Supplementary Table 3 MAF file of all patients.,,,,,,,,,,,,,,,,,,,,,,,,
Chromosome,Start_Position,End_Position,Reference_Allele,Tumor_Seq_Allele2,Tumor_Sample_Barcode,Hugo_Symbol,Variant_Classification,tx,exon,txChange,aaChange,Variant_Type,sample_id,Func.refGene,Gene.refGene,GeneDetail.refGene,ExonicFunc.refGene,AAChange.refGene,SIFT_pred,LRT_pred,MutationTaster_pred,FATHMM_pred,PROVEAN_pred,MetaSVM_pred
chr1,177913747,177913747,G,A,P137694_F,CRYZL2P-SEC16B,Silent,NM_001356500,exon14,c.C807T,p.F269F,SNP,SNVindel,exonic,CRYZL2P-SEC16B;SEC16B,NA,synonymous SNV,"SEC16B:NM_001356500:exon14:c.C807T:p.F269F,SEC16B:NM_033127:exon15:c.C1830T:p.F610F,CRYZL2P-SEC16B:NM_001356506:exon21:c.C1830T:p.F610F,CRYZL2P-SEC16B:NM_001356505:exon23:c.C1830T:p.F610F",NA,NA,NA,NA,NA,NA
chr3,183824060,183824060,C,T,P137694_F,HTR3E,Missense_Mutation,NM_001256614,exon6,c.C1148T,p.P383L,SNP,SNVindel,exonic,HTR3E,NA,nonsynonymous SNV,"HTR3E:NM_001256614:exon6:c.C1148T:p.P383L,HTR3E:NM_198314:exon6:c.C1070T:p.P357L,HTR3E:NM_182589:exon7:c.C1115T:p.P372L,HTR3E:NM_198313:exon7:c.C1025T:p.P342L,HTR3E:NM_001256613:exon8:c.C1070T:p.P357L",T,N,N,D,D,T
chr9,94493196,94493196,C,T,P137694_F,ROR2,Silent,NM_004560,exon7,c.G1179A,p.S393S,SNP,SNVindel,exonic,ROR2,NA,synonymous SNV,ROR2:NM_004560:exon7:c.G1179A:p.S393S,NA,NA,NA,NA,NA,NA
chr10,45799431,45799431,G,A,P137694_F,OR13A1,Missense_Mutation,NM_001004297,exon4,c.C440T,p.P147L,SNP,SNVindel,exonic,OR13A1,NA,nonsynonymous SNV,OR13A1:NM_001004297:exon4:c.C440T:p.P147L,D,N,D,T,D,T
chr10,76797628,76797628,T,C,P137694_F,DUPD1,Missense_Mutation,NM_001003892,exon3,c.A629G,p.Q210R,SNP,SNVindel,exonic,DUPD1,NA,nonsynonymous SNV,DUPD1:NM_001003892:exon3:c.A629G:p.Q210R,T,.,N,T,N,T
chr10,94836414,94836414,A,G,P137694_F,CYP26A1,Silent,NM_000783,exon6,c.A1113G,p.P371P,SNP,SNVindel,exonic,CYP26A1,NA,synonymous SNV,"CYP26A1:NM_000783:exon6:c.A1113G:p.P371P,CYP26A1:NM_057157:exon6:c.A906G:p.P302P",NA,NA,NA,NA,NA,NA
chr14,58563442,58563442,C,T,P137694_F,ARMH4,Missense_Mutation,NM_001001872,exon5,c.G2089A,p.V697M,SNP,SNVindel,exonic,ARMH4,NA,nonsynonymous SNV,ARMH4:NM_001001872:exon5:c.G2089A:p.V697M,D,D,D,T,N,T
chr7,97616394,97616394,G,A,P137694_F,OCM2,Missense_Mutation,NM_006188,exon3,c.C269T,p.A90V,SNP,SNVindel,exonic,OCM2,NA,nonsynonymous SNV,OCM2:NM_006188:exon3:c.C269T:p.A90V,D,D,N,T,D,T
chr9,96436080,96436080,C,T,P137694_F,PHF2,Silent,NM_005392,exon18,c.C2562T,p.V854V,SNP,SNVindel,exonic,PHF2,NA,synonymous SNV,PHF2:NM_005392:exon18:c.C2562T:p.V854V,NA,NA,NA,NA,NA,NA
chr17,76445502,76445502,C,T,P137694_F,DNAH17,Silent,NM_173628,exon69,c.G11205A,p.T3735T,SNP,SNVindel,exonic,DNAH17,NA,synonymous SNV,DNAH17:NM_173628:exon69:c.G11205A:p.T3735T,NA,NA,NA,NA,NA,NA
chr1,198711424,198711424,C,T,P137694_F,PTPRC,Silent,NM_080921,exon22,c.C2142T,p.A714A,SNP,SNVindel,exonic,PTPRC,NA,synonymous SNV,"PTPRC:NM_080921:exon22:c.C2142T:p.A714A,PTPRC:NM_002838:exon25:c.C2625T:p.A875A",NA,NA,NA,NA,NA,NA
chr12,53722299,53722299,C,T,P137694_F,SP7,Silent,NM_152860,exon2,c.G927A,p.S309S,SNP,SNVindel,exonic,SP7,NA,synonymous SNV,"SP7:NM_152860:exon2:c.G927A:p.S309S,SP7:NM_001173467:exon3:c.G927A:p.S309S,SP7:NM_001300837:exon3:c.G873A:p.S291S",NA,NA,NA,NA,NA,NA
chr14,95916404,95916404,G,A,P137694_F,SYNE3,Missense_Mutation,NM_001363692,exon7,c.C1313T,p.A438V,SNP,SNVindel,exonic,SYNE3,NA,nonsynonymous SNV,"SYNE3:NM_001363692:exon7:c.C1313T:p.A438V,SYNE3:NM_152592:exon7:c.C1313T:p.A438V",D,N,N,T,N,T
chr16,28917048,28917048,G,A,P137694_F,RABEP2,Missense_Mutation,NM_024816,exon11,c.C1468T,p.R490W,SNP,SNVindel,exonic,RABEP2,NA,nonsynonymous SNV,RABEP2:NM_024816:exon11:c.C1468T:p.R490W,D,D,D,T,D,T
chr17,5461934,5461934,C,T,P137694_F,NLRP1,Silent,NM_001033053,exon4,c.G2082A,p.L694L,SNP,SNVindel,exonic,NLRP1,NA,synonymous SNV,"NLRP1:NM_001033053:exon4:c.G2082A:p.L694L,NLRP1:NM_014922:exon4:c.G2082A:p.L694L,NLRP1:NM_033004:exon4:c.G2082A:p.L694L,NLRP1:NM_033006:exon4:c.G2082A:p.L694L,NLRP1:NM_033007:exon4:c.G2082A:p.L694L",NA,NA,NA,NA,NA,NA
chr19,8151993,8151993,C,T,P137694_F,FBN3,Missense_Mutation,NM_001321431,exon54,c.G6722A,p.R2241Q,SNP,SNVindel,exonic,FBN3,NA,nonsynonymous SNV,"FBN3:NM_001321431:exon54:c.G6722A:p.R2241Q,FBN3:NM_032447:exon54:c.G6722A:p.R2241Q",T,U,N,D,N,T
chr20,57769446,57769446,G,A,P137694_F,ZNF831,Silent,NM_178457,exon1,c.G3372A,p.P1124P,SNP,SNVindel,exonic,ZNF831,NA,synonymous SNV,ZNF831:NM_178457:exon1:c.G3372A:p.P1124P,NA,NA,NA,NA,NA,NA
chr9,86518650,86518650,G,C,P137694_F,KIF27,Missense_Mutation,NM_001271927,exon4,c.C783G,p.F261L,SNP,SNVindel,exonic,KIF27,NA,nonsynonymous SNV,"KIF27:NM_001271927:exon4:c.C783G:p.F261L,KIF27:NM_001271928:exon4:c.C783G:p.F261L,KIF27:NM_017576:exon4:c.C783G:p.F261L,KIF27:NM_001354069:exon5:c.C783G:p.F261L",T,D,D,T,N,T
chr20,13856737,13856737,C,T,P137694_F,SEL1L2,Missense_Mutation,NM_001363752,exon11,c.G658A,p.V220M,SNP,SNVindel,exonic,SEL1L2,NA,nonsynonymous SNV,"SEL1L2:NM_001363752:exon11:c.G658A:p.V220M,SEL1L2:NM_001271539:exon12:c.G1051A:p.V351M,SEL1L2:NM_025229:exon12:c.G1051A:p.V351M",D,N,N,T,N,T
chr2,24199905,24199905,G,A,P137694_F,UBXN2A,Missense_Mutation,NM_181713,exon4,c.G247A,p.D83N,SNP,SNVindel,exonic,UBXN2A,NA,nonsynonymous SNV,UBXN2A:NM_181713:exon4:c.G247A:p.D83N,D,D,D,T,D,T
chr7,103124188,103124188,C,T,P137694_F,RELN,Missense_Mutation,NM_005045,exon62,c.G10093A,p.V3365I,SNP,SNVindel,exonic,RELN,NA,nonsynonymous SNV,"RELN:NM_005045:exon62:c.G10093A:p.V3365I,RELN:NM_173054:exon62:c.G10093A:p.V3365I",T,N,D,T,N,T
chr8,3165342,3165342,C,T,P137694_F,CSMD1,Silent,NM_033225,exon25,c.G3825A,p.A1275A,SNP,SNVindel,exonic,CSMD1,NA,synonymous SNV,CSMD1:NM_033225:exon25:c.G3825A:p.A1275A,NA,NA,NA,NA,NA,NA
chr3,44598800,44598800,G,A,P137694_F,ZKSCAN7,Silent,NM_001288590,exon2,c.G261A,p.V87V,SNP,SNVindel,exonic,ZKSCAN7,NA,synonymous SNV,"ZKSCAN7:NM_001288590:exon2:c.G261A:p.V87V,ZKSCAN7:NM_001288591:exon2:c.G261A:p.V87V,ZKSCAN7:NM_018651:exon2:c.G261A:p.V87V,ZKSCAN7:NM_025169:exon2:c.G261A:p.V87V",NA,NA,NA,NA,NA,NA
chr17,79650844,79650844,G,T,P137694_F,ARL16,Silent,NM_001040025,exon1,c.C12A,p.A4A,SNP,SNVindel,exonic,ARL16,NA,synonymous SNV,ARL16:NM_001040025:exon1:c.C12A:p.A4A,NA,NA,NA,NA,NA,NA
chr20,76700,76700,G,A,P137694_F,DEFB125,Missense_Mutation,NM_153325,exon2,c.G113A,p.R38Q,SNP,SNVindel,exonic,DEFB125,NA,nonsynonymous SNV,DEFB125:NM_153325:exon2:c.G113A:p.R38Q,D,N,N,T,N,T
chr9,2717819,2717819,G,A,P137694_F,KCNV2,Missense_Mutation,NM_133497,exon1,c.G80A,p.R27H,SNP,SNVindel,exonic,KCNV2,NA,nonsynonymous SNV,KCNV2:NM_133497:exon1:c.G80A:p.R27H,D,N,N,D,N,D
chr16,2051656,2051656,C,T,P137694_F,ZNF598,Missense_Mutation,NM_178167,exon8,c.G941A,p.R314H,SNP,SNVindel,exonic,ZNF598,NA,nonsynonymous SNV,ZNF598:NM_178167:exon8:c.G941A:p.R314H,D,D,D,T,N,T
chr1,175052942,175052942,G,A,P137694_F,TNN,Missense_Mutation,NM_022093,exon5,c.G1105A,p.V369M,SNP,SNVindel,exonic,TNN,NA,nonsynonymous SNV,TNN:NM_022093:exon5:c.G1105A:p.V369M,D,N,D,T,D,T
chr17,36482628,36482628,A,G,P137694_F,GPR179,Missense_Mutation,NM_001004334,exon11,c.T6824C,p.L2275P,SNP,SNVindel,exonic,GPR179,NA,nonsynonymous SNV,GPR179:NM_001004334:exon11:c.T6824C:p.L2275P,.,N,N,.,.,T
chr9,112963497,112963497,G,A,P137694_F,C9orf152,Missense_Mutation,NM_001012993,exon2,c.C451T,p.L151F,SNP,SNVindel,exonic,C9orf152,NA,nonsynonymous SNV,C9orf152:NM_001012993:exon2:c.C451T:p.L151F,T,N,N,.,D,T
chr1,179462056,179462056,T,G,P137694_F,AXDND1,Silent,NM_144696,exon20,c.T2358G,p.T786T,SNP,SNVindel,exonic,AXDND1,NA,synonymous SNV,AXDND1:NM_144696:exon20:c.T2358G:p.T786T,NA,NA,NA,NA,NA,NA
chr20,23666597,23666597,G,A,P137694_F,CST4,Silent,NM_001899,exon3,c.C360T,p.F120F,SNP,SNVindel,exonic,CST4,NA,synonymous SNV,CST4:NM_001899:exon3:c.C360T:p.F120F,NA,NA,NA,NA,NA,NA
chr1,55068354,55068354,C,T,P137694_F,ACOT11,Missense_Mutation,NM_015547,exon10,c.C1042T,p.R348W,SNP,SNVindel,exonic,ACOT11,NA,nonsynonymous SNV,"ACOT11:NM_015547:exon10:c.C1042T:p.R348W,ACOT11:NM_147161:exon10:c.C1042T:p.R348W",D,D,D,T,D,T
chr1,227946825,227946825,A,T,P137694_F,SNAP47,Silent,NM_001323930,exon3,c.A627T,p.I209I,SNP,SNVindel,exonic,SNAP47,NA,synonymous SNV,"SNAP47:NM_001323930:exon3:c.A627T:p.I209I,SNAP47:NM_001323934:exon3:c.A627T:p.I209I,SNAP47:NM_001323935:exon3:c.A762T:p.I254I,SNAP47:NM_053052:exon3:c.A762T:p.I254I,SNAP47:NM_001323931:exon4:c.A627T:p.I209I,SNAP47:NM_001323932:exon4:c.A627T:p.I209I,SNAP47:NM_001323933:exon5:c.A627T:p.I209I",NA,NA,NA,NA,NA,NA
chr9,101984010,101984010,G,A,P137694_F,ALG2,Missense_Mutation,NM_033087,exon1,c.C167T,p.P56L,SNP,SNVindel,exonic,ALG2,NA,nonsynonymous SNV,ALG2:NM_033087:exon1:c.C167T:p.P56L,D,D,D,T,D,D
chr3,36778711,36778711,C,T,P137694_F,DCLK3,Silent,NM_033403,exon2,c.G1440A,p.P480P,SNP,SNVindel,exonic,DCLK3,NA,synonymous SNV,DCLK3:NM_033403:exon2:c.G1440A:p.P480P,NA,NA,NA,NA,NA,NA
chr10,128974585,128974585,G,A,P137694_F,INSYN2A,Silent,NM_001039762,exon4,c.C75T,p.A25A,SNP,SNVindel,exonic,INSYN2A,NA,synonymous SNV,INSYN2A:NM_001039762:exon4:c.C75T:p.A25A,NA,NA,NA,NA,NA,NA
chr14,24568323,24568323,C,T,P137694_F,PCK2,Missense_Mutation,NM_001018073,exon5,c.C730T,p.R244W,SNP,SNVindel,exonic,PCK2,NA,nonsynonymous SNV,"PCK2:NM_001018073:exon5:c.C730T:p.R244W,PCK2:NM_001291556:exon5:c.C328T:p.R110W,PCK2:NM_001308054:exon5:c.C328T:p.R110W,PCK2:NM_004563:exon5:c.C730T:p.R244W",D,D,D,T,D,T
chr1,47838652,47838652,A,G,P137694_F,CMPK1,Missense_Mutation,NM_001136140,exon2,c.A197G,p.N66S,SNP,SNVindel,exonic,CMPK1,NA,nonsynonymous SNV,"CMPK1:NM_001136140:exon2:c.A197G:p.N66S,CMPK1:NM_001366135:exon3:c.A248G:p.N83S,CMPK1:NM_016308:exon3:c.A344G:p.N115S",T,D,D,T,N,T
chrX,47918557,47918557,T,C,P137694_F,ZNF630,Missense_Mutation,NM_001037735,exon5,c.A1274G,p.H425R,SNP,SNVindel,exonic,ZNF630,NA,nonsynonymous SNV,"ZNF630:NM_001037735:exon5:c.A1274G:p.H425R,ZNF630:NM_001190255:exon5:c.A1232G:p.H411R,ZNF630:NM_001282201:exon5:c.A1274G:p.H425R,ZNF630:NM_001282202:exon5:c.A902G:p.H301R",D,.,N,T,D,T
chr8,133918963,133918963,C,T,P137694_F,TG,Missense_Mutation,NM_003235,exon17,c.C3665T,p.S1222L,SNP,SNVindel,exonic,TG,NA,nonsynonymous SNV,TG:NM_003235:exon17:c.C3665T:p.S1222L,T,N,N,T,N,T
chr11,62302559,62302559,C,T,P137694_F,AHNAK,Silent,NM_001346445,exon4,c.G258A,p.L86L,SNP,SNVindel,exonic,AHNAK,NA,synonymous SNV,"AHNAK:NM_001346445:exon4:c.G258A:p.L86L,AHNAK:NM_001346446:exon4:c.G258A:p.L86L,AHNAK:NM_001620:exon4:c.G258A:p.L86L,AHNAK:NM_024060:exon4:c.G258A:p.L86L",NA,NA,NA,NA,NA,NA
chr14,105416253,105416253,C,T,P137694_F,AHNAK2,Silent,NM_001350929,exon7,c.G5235A,p.S1745S,SNP,SNVindel,exonic,AHNAK2,NA,synonymous SNV,"AHNAK2:NM_001350929:exon7:c.G5235A:p.S1745S,AHNAK2:NM_138420:exon7:c.G5535A:p.S1845S",NA,NA,NA,NA,NA,NA
chr20,5294865,5294865,C,T,P137694_F,PROKR2,Missense_Mutation,NM_144773,exon2,c.G151A,p.A51T,SNP,SNVindel,exonic,PROKR2,NA,nonsynonymous SNV,PROKR2:NM_144773:exon2:c.G151A:p.A51T,T,D,D,T,N,T
chr7,20198953,20198953,A,G,P137694_F,MACC1,Missense_Mutation,NM_182762,exon5,c.T1031C,p.M344T,SNP,SNVindel,exonic,MACC1,NA,nonsynonymous SNV,MACC1:NM_182762:exon5:c.T1031C:p.M344T,T,D,D,T,D,T
chr1,51826853,51826853,T,C,P137694_F,EPS15,Missense_Mutation,NM_001159969,exon12,c.A1592G,p.N531S,SNP,SNVindel,exonic,EPS15,NA,nonsynonymous SNV,"EPS15:NM_001159969:exon12:c.A1592G:p.N531S,EPS15:NM_001981:exon24:c.A2534G:p.N845S",T,.,D,T,N,T
chr10,5978442,5978442,G,A,P137694_F,FBH1,Silent,NM_178150,exon20,c.G2853A,p.L951L,SNP,SNVindel,exonic,FBH1,NA,synonymous SNV,"FBH1:NM_178150:exon20:c.G2853A:p.L951L,FBH1:NM_001258452:exon21:c.G2682A:p.L894L,FBH1:NM_001258453:exon21:c.G2631A:p.L877L,FBH1:NM_032807:exon21:c.G3006A:p.L1002L",NA,NA,NA,NA,NA,NA
chr12,56755652,56755652,C,T,P137694_F,APOF,Missense_Mutation,NM_001638,exon2,c.G338A,p.R113H,SNP,SNVindel,exonic,APOF,NA,nonsynonymous SNV,APOF:NM_001638:exon2:c.G338A:p.R113H,T,N,N,T,N,T
chr14,105415731,105415731,C,T,P137694_F,AHNAK2,Silent,NM_001350929,exon7,c.G5757A,p.E1919E,SNP,SNVindel,exonic,AHNAK2,NA,synonymous SNV,"AHNAK2:NM_001350929:exon7:c.G5757A:p.E1919E,AHNAK2:NM_138420:exon7:c.G6057A:p.E2019E",NA,NA,NA,NA,NA,NA
chr1,153509895,153509895,G,A,P137694_F,S100A5,Silent,NM_002962,exon4,c.C156T,p.I52I,SNP,SNVindel,exonic,S100A5,NA,synonymous SNV,S100A5:NM_002962:exon4:c.C156T:p.I52I,NA,NA,NA,NA,NA,NA
chr17,71027782,71027782,G,A,P137694_F,SLC39A11,Silent,NM_001159770,exon4,c.C219T,p.F73F,SNP,SNVindel,exonic,SLC39A11,NA,synonymous SNV,"SLC39A11:NM_001159770:exon4:c.C219T:p.F73F,SLC39A11:NM_001352692:exon4:c.C219T:p.F73F,SLC39A11:NM_001352693:exon4:c.C219T:p.F73F,SLC39A11:NM_139177:exon4:c.C219T:p.F73F,SLC39A11:NM_001352691:exon5:c.C219T:p.F73F",NA,NA,NA,NA,NA,NA
chr11,118516453,118516453,C,T,P137694_F,PHLDB1,Silent,NM_001144759,exon16,c.C3276T,p.S1092S,SNP,SNVindel,exonic,PHLDB1,NA,synonymous SNV,"PHLDB1:NM_001144759:exon16:c.C3276T:p.S1092S,PHLDB1:NM_001144758:exon17:c.C3417T:p.S1139S,PHLDB1:NM_015157:exon18:c.C3417T:p.S1139S",NA,NA,NA,NA,NA,NA
chr1,9324078,9324078,G,A,P137694_F,H6PD,Missense_Mutation,NM_001282587,exon5,c.G1559A,p.R520H,SNP,SNVindel,exonic,H6PD,NA,nonsynonymous SNV,"H6PD:NM_001282587:exon5:c.G1559A:p.R520H,H6PD:NM_004285:exon5:c.G1526A:p.R509H",T,N,N,D,N,T
chr2,46739478,46739478,G,A,P137694_F,ATP6V1E2,Missense_Mutation,NM_001371283,exon4,c.C373T,p.L125F,SNP,SNVindel,exonic,ATP6V1E2,NA,nonsynonymous SNV,"ATP6V1E2:NM_001371283:exon4:c.C373T:p.L125F,ATP6V1E2:NM_001318063:exon5:c.C373T:p.L125F,ATP6V1E2:NM_001371281:exon5:c.C373T:p.L125F,ATP6V1E2:NM_001371282:exon5:c.C373T:p.L125F",T,N,N,.,N,T
chr2,113940279,113940279,C,T,P137694_F,PSD4,Silent,NM_012455,exon2,c.C246T,p.D82D,SNP,SNVindel,exonic,PSD4,NA,synonymous SNV,PSD4:NM_012455:exon2:c.C246T:p.D82D,NA,NA,NA,NA,NA,NA
chr2,125204489,125204489,C,T,P137694_F,CNTNAP5,Missense_Mutation,NM_001367498,exon6,c.C893T,p.T298M,SNP,SNVindel,exonic,CNTNAP5,NA,nonsynonymous SNV,"CNTNAP5:NM_001367498:exon6:c.C893T:p.T298M,CNTNAP5:NM_130773:exon6:c.C893T:p.T298M",T,N,N,T,N,T
chr2,130872791,130872791,A,G,P137694_F,POTEF,Missense_Mutation,NM_001099771,exon4,c.T632C,p.I211T,SNP,SNVindel,exonic,POTEF,NA,nonsynonymous SNV,POTEF:NM_001099771:exon4:c.T632C:p.I211T,T,N,N,T,N,T
chr2,192818506,192818506,G,A,P137694_F,TMEFF2,Silent,NM_001305134,exon9,c.C927T,p.Y309Y,SNP,SNVindel,exonic,TMEFF2,NA,synonymous SNV,"TMEFF2:NM_001305134:exon9:c.C927T:p.Y309Y,TMEFF2:NM_016192:exon9:c.C927T:p.Y309Y",NA,NA,NA,NA,NA,NA
chr3,119120905,119120905,C,T,P137694_F,ARHGAP31,Missense_Mutation,NM_020754,exon10,c.C1306T,p.R436W,SNP,SNVindel,exonic,ARHGAP31,NA,nonsynonymous SNV,ARHGAP31:NM_020754:exon10:c.C1306T:p.R436W,D,D,D,T,D,T
chr3,129020936,129020936,G,A,P137694_F,HMCES,Missense_Mutation,NM_001363881,exon5,c.G653A,p.R218Q,SNP,SNVindel,exonic,HMCES,NA,nonsynonymous SNV,"HMCES:NM_001363881:exon5:c.G653A:p.R218Q,HMCES:NM_001370345:exon5:c.G635A:p.R212Q,HMCES:NM_001006109:exon6:c.G779A:p.R260Q,HMCES:NM_001370343:exon6:c.G779A:p.R260Q,HMCES:NM_001370344:exon6:c.G779A:p.R260Q,HMCES:NM_020187:exon6:c.G779A:p.R260Q",D,D,D,.,D,T
chr3,138738723,138738723,G,A,P137694_F,PRR23B,Missense_Mutation,NM_001013650,exon1,c.C781T,p.R261C,SNP,SNVindel,exonic,PRR23B,NA,nonsynonymous SNV,PRR23B:NM_001013650:exon1:c.C781T:p.R261C,T,N,N,.,D,T
chr3,185146619,185146619,G,A,P137694_F,MAP3K13,Missense_Mutation,NM_004721,exon2,c.G250A,p.V84I,SNP,SNVindel,exonic,MAP3K13,NA,nonsynonymous SNV,"MAP3K13:NM_004721:exon2:c.G250A:p.V84I,MAP3K13:NM_001242314:exon3:c.G250A:p.V84I",D,N,D,T,N,T
chr4,2065507,2065507,G,A,P137694_F,NAT8L,Missense_Mutation,NM_178557,exon3,c.G562A,p.V188M,SNP,SNVindel,exonic,NAT8L,NA,nonsynonymous SNV,NAT8L:NM_178557:exon3:c.G562A:p.V188M,D,U,D,T,N,T
chr4,145636516,145636516,G,A,P137694_F,HHIP,Missense_Mutation,NM_022475,exon10,c.G1612A,p.G538S,SNP,SNVindel,exonic,HHIP,NA,nonsynonymous SNV,HHIP:NM_022475:exon10:c.G1612A:p.G538S,D,D,D,T,D,T
chr4,169433082,169433082,C,T,P137694_F,PALLD,Missense_Mutation,NM_001166108,exon2,c.C427T,p.R143C,SNP,SNVindel,exonic,PALLD,NA,nonsynonymous SNV,"PALLD:NM_001166108:exon2:c.C427T:p.R143C,PALLD:NM_016081:exon2:c.C427T:p.R143C",D,U,N,T,N,T
chr6,16295324,16295324,G,A,P137694_F,GMPR,Silent,NM_006877,exon9,c.G945A,p.T315T,SNP,SNVindel,exonic,GMPR,NA,synonymous SNV,GMPR:NM_006877:exon9:c.G945A:p.T315T,NA,NA,NA,NA,NA,NA
chr7,151927025,151927025,A,G,P137694_F,KMT2C,Missense_Mutation,NM_170606,exon18,c.T2959C,p.Y987H,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,D,U,D,D,D,D
chr7,151945140,151945140,C,T,P137694_F,KMT2C,Silent,NM_170606,exon14,c.G2379A,p.S793S,SNP,SNVindel,exonic,KMT2C,NA,synonymous SNV,KMT2C:NM_170606:exon14:c.G2379A:p.S793S,NA,NA,NA,NA,NA,NA
chr7,151945167,151945167,G,T,P137694_F,KMT2C,Silent,NM_170606,exon14,c.C2352A,p.S784S,SNP,SNVindel,exonic,KMT2C,NA,synonymous SNV,KMT2C:NM_170606:exon14:c.C2352A:p.S784S,NA,NA,NA,NA,NA,NA
chr7,151962134,151962134,G,T,P137694_F,KMT2C,Nonsense_Mutation,NM_170606,exon8,c.C1173A,p.C391X,SNP,SNVindel,exonic,KMT2C,NA,stopgain,KMT2C:NM_170606:exon8:c.C1173A:p.C391X,.,U,A,.,.,.
chr7,151962168,151962168,C,A,P137694_F,KMT2C,Missense_Mutation,NM_170606,exon8,c.G1139T,p.R380L,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon8:c.G1139T:p.R380L,T,U,D,D,D,D
chr7,151970859,151970859,C,T,P137694_F,KMT2C,Missense_Mutation,NM_170606,exon7,c.G943A,p.G315S,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon7:c.G943A:p.G315S,T,D,D,T,D,D
chr7,151970951,151970951,C,T,P137694_F,KMT2C,Missense_Mutation,NM_170606,exon7,c.G851A,p.R284Q,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon7:c.G851A:p.R284Q,D,N,D,T,N,T
chr8,54142295,54142295,G,A,P137694_F,OPRK1,Silent,NM_000912,exon4,c.C705T,p.F235F,SNP,SNVindel,exonic,OPRK1,NA,synonymous SNV,"OPRK1:NM_000912:exon4:c.C705T:p.F235F,OPRK1:NM_001282904:exon5:c.C438T:p.F146F",NA,NA,NA,NA,NA,NA
chr8,55539608,55539608,A,G,P137694_F,RP1,Missense_Mutation,NM_006269,exon4,c.A3166G,p.I1056V,SNP,SNVindel,exonic,RP1,NA,nonsynonymous SNV,RP1:NM_006269:exon4:c.A3166G:p.I1056V,T,N,N,T,N,T
chr8,124042882,124042882,T,C,P137694_F,DERL1,Silent,NM_001134671,exon2,c.A228G,p.L76L,SNP,SNVindel,exonic,DERL1,NA,synonymous SNV,"DERL1:NM_001134671:exon2:c.A228G:p.L76L,DERL1:NM_024295:exon2:c.A228G:p.L76L",NA,NA,NA,NA,NA,NA
chr8,144940506,144940506,C,T,P137694_F,EPPK1,Missense_Mutation,NM_031308,exon2,c.G6916A,p.A2306T,SNP,SNVindel,exonic,EPPK1,NA,nonsynonymous SNV,EPPK1:NM_031308:exon2:c.G6916A:p.A2306T,.,.,D,.,.,D
chr9,97081263,97081263,G,C,P137694_F,NUTM2F,Silent,NM_017561,exon7,c.C1755G,p.P585P,SNP,SNVindel,exonic,NUTM2F,NA,synonymous SNV,NUTM2F:NM_017561:exon7:c.C1755G:p.P585P,NA,NA,NA,NA,NA,NA
chr11,1271333,1271333,C,T,P137694_F,MUC5B,Missense_Mutation,NM_002458,exon31,c.C13223T,p.T4408M,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.C13223T:p.T4408M,T,.,N,T,N,T
chr11,2432869,2432869,C,T,P137694_F,TRPM5,Missense_Mutation,NM_014555,exon17,c.G2603A,p.R868H,SNP,SNVindel,exonic,TRPM5,NA,nonsynonymous SNV,TRPM5:NM_014555:exon17:c.G2603A:p.R868H,D,D,D,T,D,T
chr11,56344882,56344882,C,T,P137694_F,OR5M10,Missense_Mutation,NM_001004741,exon1,c.G316A,p.A106T,SNP,SNVindel,exonic,OR5M10,NA,nonsynonymous SNV,OR5M10:NM_001004741:exon1:c.G316A:p.A106T,T,.,N,T,N,T
chr11,72421462,72421462,C,T,P137694_F,ARAP1,Missense_Mutation,NM_001135190,exon8,c.G649A,p.G217R,SNP,SNVindel,exonic,ARAP1,NA,nonsynonymous SNV,"ARAP1:NM_001135190:exon8:c.G649A:p.G217R,ARAP1:NM_001369489:exon8:c.G649A:p.G217R,ARAP1:NM_015242:exon8:c.G649A:p.G217R,ARAP1:NM_001040118:exon10:c.G1384A:p.G462R",T,N,N,T,D,T
chr11,113281641,113281641,G,A,P137694_F,DRD2,Silent,NM_016574,exon7,c.C1053T,p.G351G,SNP,SNVindel,exonic,DRD2,NA,synonymous SNV,"DRD2:NM_016574:exon7:c.C1053T:p.G351G,DRD2:NM_000795:exon8:c.C1140T:p.G380G",NA,NA,NA,NA,NA,NA
chr11,123886720,123886720,A,G,P137694_F,OR10G4,Missense_Mutation,NM_001004462,exon1,c.A439G,p.T147A,SNP,SNVindel,exonic,OR10G4,NA,nonsynonymous SNV,OR10G4:NM_001004462:exon1:c.A439G:p.T147A,T,N,N,T,N,T
chr12,52844401,52844401,G,A,P137694_F,KRT6B,Missense_Mutation,NM_005555,exon2,c.C544T,p.R182W,SNP,SNVindel,exonic,KRT6B,NA,nonsynonymous SNV,KRT6B:NM_005555:exon2:c.C544T:p.R182W,D,D,D,D,D,D
chr15,90631838,90631838,C,T,P137694_F,IDH2,Missense_Mutation,NM_001290114,exon2,c.G125A,p.R42K,SNP,SNVindel,exonic,IDH2,NA,nonsynonymous SNV,"IDH2:NM_001290114:exon2:c.G125A:p.R42K,IDH2:NM_001289910:exon4:c.G359A:p.R120K,IDH2:NM_002168:exon4:c.G515A:p.R172K",D,D,D,D,D,D
chr16,162760,162760,C,T,P137694_F,NPRL3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NPRL3,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr16,55857480,55857480,C,T,P137694_F,CES1,Missense_Mutation,NM_001025194,exon4,c.G518A,p.G173D,SNP,SNVindel,exonic,CES1,NA,nonsynonymous SNV,"CES1:NM_001025194:exon4:c.G518A:p.G173D,CES1:NM_001025195:exon4:c.G521A:p.G174D,CES1:NM_001266:exon4:c.G518A:p.G173D",D,D,D,T,D,D
chr17,7577539,7577539,G,A,P137694_F,TP53,Missense_Mutation,NM_001126115,exon3,c.C346T,p.R116W,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon3:c.C346T:p.R116W,TP53:NM_001126116:exon3:c.C346T:p.R116W,TP53:NM_001126117:exon3:c.C346T:p.R116W,TP53:NM_001276697:exon3:c.C265T:p.R89W,TP53:NM_001276698:exon3:c.C265T:p.R89W,TP53:NM_001276699:exon3:c.C265T:p.R89W,TP53:NM_001126118:exon6:c.C625T:p.R209W,TP53:NM_000546:exon7:c.C742T:p.R248W,TP53:NM_001126112:exon7:c.C742T:p.R248W,TP53:NM_001126113:exon7:c.C742T:p.R248W,TP53:NM_001126114:exon7:c.C742T:p.R248W,TP53:NM_001276695:exon7:c.C625T:p.R209W,TP53:NM_001276696:exon7:c.C625T:p.R209W,TP53:NM_001276760:exon7:c.C625T:p.R209W,TP53:NM_001276761:exon7:c.C625T:p.R209W",D,D,A,D,D,D
chr17,9281920,9281920,G,A,P137694_F,STX8,Missense_Mutation,NM_004853,exon7,c.C592T,p.R198C,SNP,SNVindel,exonic,STX8,NA,nonsynonymous SNV,STX8:NM_004853:exon7:c.C592T:p.R198C,T,D,D,.,N,T
chr17,27417893,27417893,G,A,P137694_F,MYO18A,Missense_Mutation,NM_001346767,exon34,c.C5128T,p.R1710W,SNP,SNVindel,exonic,MYO18A,NA,nonsynonymous SNV,"MYO18A:NM_001346767:exon34:c.C5128T:p.R1710W,MYO18A:NM_001346768:exon35:c.C3865T:p.R1289W,MYO18A:NM_078471:exon35:c.C5239T:p.R1747W,MYO18A:NM_203318:exon35:c.C5239T:p.R1747W,MYO18A:NM_001346766:exon36:c.C5275T:p.R1759W,MYO18A:NM_001346765:exon37:c.C5296T:p.R1766W",D,D,D,D,D,D
chr19,7810766,7810766,C,T,P137694_F,CD209,Missense_Mutation,NM_001144893,exon2,c.G254A,p.R85Q,SNP,SNVindel,exonic,CD209,NA,nonsynonymous SNV,"CD209:NM_001144893:exon2:c.G254A:p.R85Q,CD209:NM_001144894:exon2:c.G254A:p.R85Q,CD209:NM_001144896:exon3:c.G314A:p.R105Q,CD209:NM_001144895:exon4:c.G386A:p.R129Q,CD209:NM_001144897:exon4:c.G386A:p.R129Q,CD209:NM_021155:exon4:c.G386A:p.R129Q",T,.,N,T,N,T
chr19,35173717,35173717,T,A,P137694_F,ZNF302,Missense_Mutation,NM_001012320,exon3,c.T45A,p.H15Q,SNP,SNVindel,exonic,ZNF302,NA,nonsynonymous SNV,"ZNF302:NM_001012320:exon3:c.T45A:p.H15Q,ZNF302:NM_001289182:exon3:c.T45A:p.H15Q,ZNF302:NM_001289183:exon3:c.T45A:p.H15Q,ZNF302:NM_001289184:exon3:c.T45A:p.H15Q,ZNF302:NM_001289185:exon3:c.T45A:p.H15Q,ZNF302:NM_001289186:exon3:c.T45A:p.H15Q,ZNF302:NM_001289187:exon3:c.T45A:p.H15Q,ZNF302:NM_001289188:exon3:c.T45A:p.H15Q,ZNF302:NM_001289189:exon3:c.T45A:p.H15Q,ZNF302:NM_001289190:exon3:c.T45A:p.H15Q,ZNF302:NM_001289191:exon3:c.T45A:p.H15Q,ZNF302:NM_001289192:exon3:c.T45A:p.H15Q,ZNF302:NM_018443:exon3:c.T45A:p.H15Q,ZNF302:NM_018675:exon3:c.T45A:p.H15Q,ZNF302:NM_001289181:exon4:c.T177A:p.H59Q",T,.,N,T,N,T
chr19,42880102,42880102,G,A,P137694_F,MEGF8,Silent,NM_001410,exon41,c.G7512A,p.P2504P,SNP,SNVindel,exonic,MEGF8,NA,synonymous SNV,"MEGF8:NM_001410:exon41:c.G7512A:p.P2504P,MEGF8:NM_001271938:exon42:c.G7713A:p.P2571P",NA,NA,NA,NA,NA,NA
chr19,55889475,55889475,C,A,P137694_F,TMEM190,Silent,NM_139172,exon5,c.C438A,p.V146V,SNP,SNVindel,exonic,TMEM190,NA,synonymous SNV,TMEM190:NM_139172:exon5:c.C438A:p.V146V,NA,NA,NA,NA,NA,NA
chr20,23667835,23667835,A,C,P137694_F,CST4,Missense_Mutation,NM_001899,exon2,c.T232G,p.F78V,SNP,SNVindel,exonic,CST4,NA,nonsynonymous SNV,CST4:NM_001899:exon2:c.T232G:p.F78V,T,N,N,T,N,T
chr22,50649090,50649090,C,T,P137694_F,SELENOO,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SELENOO,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr22,50967988,50967988,C,T,P137694_F,TYMP,Missense_Mutation,NM_001113756,exon1,c.G151A,p.E51K,SNP,SNVindel,exonic,TYMP,NA,nonsynonymous SNV,"TYMP:NM_001113756:exon1:c.G151A:p.E51K,TYMP:NM_001113755:exon2:c.G151A:p.E51K,TYMP:NM_001257988:exon2:c.G151A:p.E51K,TYMP:NM_001257989:exon2:c.G151A:p.E51K,TYMP:NM_001953:exon2:c.G151A:p.E51K",T,N,N,D,N,T
chr3,183824060,183824060,C,T,P137694_S,HTR3E,Missense_Mutation,NM_001256614,exon6,c.C1148T,p.P383L,SNP,SNVindel,exonic,HTR3E,NA,nonsynonymous SNV,"HTR3E:NM_001256614:exon6:c.C1148T:p.P383L,HTR3E:NM_198314:exon6:c.C1070T:p.P357L,HTR3E:NM_182589:exon7:c.C1115T:p.P372L,HTR3E:NM_198313:exon7:c.C1025T:p.P342L,HTR3E:NM_001256613:exon8:c.C1070T:p.P357L",T,N,N,D,D,T
chr9,94493196,94493196,C,T,P137694_S,ROR2,Silent,NM_004560,exon7,c.G1179A,p.S393S,SNP,SNVindel,exonic,ROR2,NA,synonymous SNV,ROR2:NM_004560:exon7:c.G1179A:p.S393S,NA,NA,NA,NA,NA,NA
chr10,45799431,45799431,G,A,P137694_S,OR13A1,Missense_Mutation,NM_001004297,exon4,c.C440T,p.P147L,SNP,SNVindel,exonic,OR13A1,NA,nonsynonymous SNV,OR13A1:NM_001004297:exon4:c.C440T:p.P147L,D,N,D,T,D,T
chr10,76797628,76797628,T,C,P137694_S,DUPD1,Missense_Mutation,NM_001003892,exon3,c.A629G,p.Q210R,SNP,SNVindel,exonic,DUPD1,NA,nonsynonymous SNV,DUPD1:NM_001003892:exon3:c.A629G:p.Q210R,T,.,N,T,N,T
chr10,94836414,94836414,A,G,P137694_S,CYP26A1,Silent,NM_000783,exon6,c.A1113G,p.P371P,SNP,SNVindel,exonic,CYP26A1,NA,synonymous SNV,"CYP26A1:NM_000783:exon6:c.A1113G:p.P371P,CYP26A1:NM_057157:exon6:c.A906G:p.P302P",NA,NA,NA,NA,NA,NA
chr14,58563442,58563442,C,T,P137694_S,ARMH4,Missense_Mutation,NM_001001872,exon5,c.G2089A,p.V697M,SNP,SNVindel,exonic,ARMH4,NA,nonsynonymous SNV,ARMH4:NM_001001872:exon5:c.G2089A:p.V697M,D,D,D,T,N,T
chr7,97616394,97616394,G,A,P137694_S,OCM2,Missense_Mutation,NM_006188,exon3,c.C269T,p.A90V,SNP,SNVindel,exonic,OCM2,NA,nonsynonymous SNV,OCM2:NM_006188:exon3:c.C269T:p.A90V,D,D,N,T,D,T
chr9,96436080,96436080,C,T,P137694_S,PHF2,Silent,NM_005392,exon18,c.C2562T,p.V854V,SNP,SNVindel,exonic,PHF2,NA,synonymous SNV,PHF2:NM_005392:exon18:c.C2562T:p.V854V,NA,NA,NA,NA,NA,NA
chr1,198711424,198711424,C,T,P137694_S,PTPRC,Silent,NM_080921,exon22,c.C2142T,p.A714A,SNP,SNVindel,exonic,PTPRC,NA,synonymous SNV,"PTPRC:NM_080921:exon22:c.C2142T:p.A714A,PTPRC:NM_002838:exon25:c.C2625T:p.A875A",NA,NA,NA,NA,NA,NA
chr12,53722299,53722299,C,T,P137694_S,SP7,Silent,NM_152860,exon2,c.G927A,p.S309S,SNP,SNVindel,exonic,SP7,NA,synonymous SNV,"SP7:NM_152860:exon2:c.G927A:p.S309S,SP7:NM_001173467:exon3:c.G927A:p.S309S,SP7:NM_001300837:exon3:c.G873A:p.S291S",NA,NA,NA,NA,NA,NA
chr14,95916404,95916404,G,A,P137694_S,SYNE3,Missense_Mutation,NM_001363692,exon7,c.C1313T,p.A438V,SNP,SNVindel,exonic,SYNE3,NA,nonsynonymous SNV,"SYNE3:NM_001363692:exon7:c.C1313T:p.A438V,SYNE3:NM_152592:exon7:c.C1313T:p.A438V",D,N,N,T,N,T
chr17,5461934,5461934,C,T,P137694_S,NLRP1,Silent,NM_001033053,exon4,c.G2082A,p.L694L,SNP,SNVindel,exonic,NLRP1,NA,synonymous SNV,"NLRP1:NM_001033053:exon4:c.G2082A:p.L694L,NLRP1:NM_014922:exon4:c.G2082A:p.L694L,NLRP1:NM_033004:exon4:c.G2082A:p.L694L,NLRP1:NM_033006:exon4:c.G2082A:p.L694L,NLRP1:NM_033007:exon4:c.G2082A:p.L694L",NA,NA,NA,NA,NA,NA
chr19,8151993,8151993,C,T,P137694_S,FBN3,Missense_Mutation,NM_001321431,exon54,c.G6722A,p.R2241Q,SNP,SNVindel,exonic,FBN3,NA,nonsynonymous SNV,"FBN3:NM_001321431:exon54:c.G6722A:p.R2241Q,FBN3:NM_032447:exon54:c.G6722A:p.R2241Q",T,U,N,D,N,T
chr20,57769446,57769446,G,A,P137694_S,ZNF831,Silent,NM_178457,exon1,c.G3372A,p.P1124P,SNP,SNVindel,exonic,ZNF831,NA,synonymous SNV,ZNF831:NM_178457:exon1:c.G3372A:p.P1124P,NA,NA,NA,NA,NA,NA
chr9,86518650,86518650,G,C,P137694_S,KIF27,Missense_Mutation,NM_001271927,exon4,c.C783G,p.F261L,SNP,SNVindel,exonic,KIF27,NA,nonsynonymous SNV,"KIF27:NM_001271927:exon4:c.C783G:p.F261L,KIF27:NM_001271928:exon4:c.C783G:p.F261L,KIF27:NM_017576:exon4:c.C783G:p.F261L,KIF27:NM_001354069:exon5:c.C783G:p.F261L",T,D,D,T,N,T
chr20,13856737,13856737,C,T,P137694_S,SEL1L2,Missense_Mutation,NM_001363752,exon11,c.G658A,p.V220M,SNP,SNVindel,exonic,SEL1L2,NA,nonsynonymous SNV,"SEL1L2:NM_001363752:exon11:c.G658A:p.V220M,SEL1L2:NM_001271539:exon12:c.G1051A:p.V351M,SEL1L2:NM_025229:exon12:c.G1051A:p.V351M",D,N,N,T,N,T
chr2,24199905,24199905,G,A,P137694_S,UBXN2A,Missense_Mutation,NM_181713,exon4,c.G247A,p.D83N,SNP,SNVindel,exonic,UBXN2A,NA,nonsynonymous SNV,UBXN2A:NM_181713:exon4:c.G247A:p.D83N,D,D,D,T,D,T
chr7,103124188,103124188,C,T,P137694_S,RELN,Missense_Mutation,NM_005045,exon62,c.G10093A,p.V3365I,SNP,SNVindel,exonic,RELN,NA,nonsynonymous SNV,"RELN:NM_005045:exon62:c.G10093A:p.V3365I,RELN:NM_173054:exon62:c.G10093A:p.V3365I",T,N,D,T,N,T
chr8,3165342,3165342,C,T,P137694_S,CSMD1,Silent,NM_033225,exon25,c.G3825A,p.A1275A,SNP,SNVindel,exonic,CSMD1,NA,synonymous SNV,CSMD1:NM_033225:exon25:c.G3825A:p.A1275A,NA,NA,NA,NA,NA,NA
chr3,44598800,44598800,G,A,P137694_S,ZKSCAN7,Silent,NM_001288590,exon2,c.G261A,p.V87V,SNP,SNVindel,exonic,ZKSCAN7,NA,synonymous SNV,"ZKSCAN7:NM_001288590:exon2:c.G261A:p.V87V,ZKSCAN7:NM_001288591:exon2:c.G261A:p.V87V,ZKSCAN7:NM_018651:exon2:c.G261A:p.V87V,ZKSCAN7:NM_025169:exon2:c.G261A:p.V87V",NA,NA,NA,NA,NA,NA
chr17,79650844,79650844,G,T,P137694_S,ARL16,Silent,NM_001040025,exon1,c.C12A,p.A4A,SNP,SNVindel,exonic,ARL16,NA,synonymous SNV,ARL16:NM_001040025:exon1:c.C12A:p.A4A,NA,NA,NA,NA,NA,NA
chr20,76700,76700,G,A,P137694_S,DEFB125,Missense_Mutation,NM_153325,exon2,c.G113A,p.R38Q,SNP,SNVindel,exonic,DEFB125,NA,nonsynonymous SNV,DEFB125:NM_153325:exon2:c.G113A:p.R38Q,D,N,N,T,N,T
chr9,2717819,2717819,G,A,P137694_S,KCNV2,Missense_Mutation,NM_133497,exon1,c.G80A,p.R27H,SNP,SNVindel,exonic,KCNV2,NA,nonsynonymous SNV,KCNV2:NM_133497:exon1:c.G80A:p.R27H,D,N,N,D,N,D
chr16,2051656,2051656,C,T,P137694_S,ZNF598,Missense_Mutation,NM_178167,exon8,c.G941A,p.R314H,SNP,SNVindel,exonic,ZNF598,NA,nonsynonymous SNV,ZNF598:NM_178167:exon8:c.G941A:p.R314H,D,D,D,T,N,T
chr1,175052942,175052942,G,A,P137694_S,TNN,Missense_Mutation,NM_022093,exon5,c.G1105A,p.V369M,SNP,SNVindel,exonic,TNN,NA,nonsynonymous SNV,TNN:NM_022093:exon5:c.G1105A:p.V369M,D,N,D,T,D,T
chr17,36482628,36482628,A,G,P137694_S,GPR179,Missense_Mutation,NM_001004334,exon11,c.T6824C,p.L2275P,SNP,SNVindel,exonic,GPR179,NA,nonsynonymous SNV,GPR179:NM_001004334:exon11:c.T6824C:p.L2275P,.,N,N,.,.,T
chr9,112963497,112963497,G,A,P137694_S,C9orf152,Missense_Mutation,NM_001012993,exon2,c.C451T,p.L151F,SNP,SNVindel,exonic,C9orf152,NA,nonsynonymous SNV,C9orf152:NM_001012993:exon2:c.C451T:p.L151F,T,N,N,.,D,T
chr1,70486791,70486791,C,T,P137694_S,LRRC7,Silent,NM_001350216,exon16,c.C1527T,p.D509D,SNP,SNVindel,exonic,LRRC7,NA,synonymous SNV,"LRRC7:NM_001350216:exon16:c.C1527T:p.D509D,LRRC7:NM_001366838:exon16:c.C1524T:p.D508D,LRRC7:NM_001370785:exon16:c.C1524T:p.D508D,LRRC7:NM_001330635:exon17:c.C1425T:p.D475D,LRRC7:NM_001366839:exon17:c.C1425T:p.D475D,LRRC7:NM_001366841:exon17:c.C1425T:p.D475D",D,.,D,T,N,T
chr1,179462056,179462056,T,G,P137694_S,AXDND1,Silent,NM_144696,exon20,c.T2358G,p.T786T,SNP,SNVindel,exonic,AXDND1,NA,synonymous SNV,AXDND1:NM_144696:exon20:c.T2358G:p.T786T,NA,NA,NA,NA,NA,NA
chr20,23666597,23666597,G,A,P137694_S,CST4,Silent,NM_001899,exon3,c.C360T,p.F120F,SNP,SNVindel,exonic,CST4,NA,synonymous SNV,CST4:NM_001899:exon3:c.C360T:p.F120F,NA,NA,NA,NA,NA,NA
chr1,55068354,55068354,C,T,P137694_S,ACOT11,Missense_Mutation,NM_015547,exon10,c.C1042T,p.R348W,SNP,SNVindel,exonic,ACOT11,NA,nonsynonymous SNV,"ACOT11:NM_015547:exon10:c.C1042T:p.R348W,ACOT11:NM_147161:exon10:c.C1042T:p.R348W",D,D,D,T,D,T
chr1,227946825,227946825,A,T,P137694_S,SNAP47,Silent,NM_001323930,exon3,c.A627T,p.I209I,SNP,SNVindel,exonic,SNAP47,NA,synonymous SNV,"SNAP47:NM_001323930:exon3:c.A627T:p.I209I,SNAP47:NM_001323934:exon3:c.A627T:p.I209I,SNAP47:NM_001323935:exon3:c.A762T:p.I254I,SNAP47:NM_053052:exon3:c.A762T:p.I254I,SNAP47:NM_001323931:exon4:c.A627T:p.I209I,SNAP47:NM_001323932:exon4:c.A627T:p.I209I,SNAP47:NM_001323933:exon5:c.A627T:p.I209I",NA,NA,NA,NA,NA,NA
chr9,101984010,101984010,G,A,P137694_S,ALG2,Missense_Mutation,NM_033087,exon1,c.C167T,p.P56L,SNP,SNVindel,exonic,ALG2,NA,nonsynonymous SNV,ALG2:NM_033087:exon1:c.C167T:p.P56L,D,D,D,T,D,D
chr3,36778711,36778711,C,T,P137694_S,DCLK3,Silent,NM_033403,exon2,c.G1440A,p.P480P,SNP,SNVindel,exonic,DCLK3,NA,synonymous SNV,DCLK3:NM_033403:exon2:c.G1440A:p.P480P,NA,NA,NA,NA,NA,NA
chr10,128974585,128974585,G,A,P137694_S,INSYN2A,Silent,NM_001039762,exon4,c.C75T,p.A25A,SNP,SNVindel,exonic,INSYN2A,NA,synonymous SNV,INSYN2A:NM_001039762:exon4:c.C75T:p.A25A,NA,NA,NA,NA,NA,NA
chr14,24568323,24568323,C,T,P137694_S,PCK2,Missense_Mutation,NM_001018073,exon5,c.C730T,p.R244W,SNP,SNVindel,exonic,PCK2,NA,nonsynonymous SNV,"PCK2:NM_001018073:exon5:c.C730T:p.R244W,PCK2:NM_001291556:exon5:c.C328T:p.R110W,PCK2:NM_001308054:exon5:c.C328T:p.R110W,PCK2:NM_004563:exon5:c.C730T:p.R244W",D,D,D,T,D,T
chr1,47838652,47838652,A,G,P137694_S,CMPK1,Missense_Mutation,NM_001136140,exon2,c.A197G,p.N66S,SNP,SNVindel,exonic,CMPK1,NA,nonsynonymous SNV,"CMPK1:NM_001136140:exon2:c.A197G:p.N66S,CMPK1:NM_001366135:exon3:c.A248G:p.N83S,CMPK1:NM_016308:exon3:c.A344G:p.N115S",T,D,D,T,N,T
chrX,47918557,47918557,T,C,P137694_S,ZNF630,Missense_Mutation,NM_001037735,exon5,c.A1274G,p.H425R,SNP,SNVindel,exonic,ZNF630,NA,nonsynonymous SNV,"ZNF630:NM_001037735:exon5:c.A1274G:p.H425R,ZNF630:NM_001190255:exon5:c.A1232G:p.H411R,ZNF630:NM_001282201:exon5:c.A1274G:p.H425R,ZNF630:NM_001282202:exon5:c.A902G:p.H301R",D,.,N,T,D,T
chr8,133918963,133918963,C,T,P137694_S,TG,Missense_Mutation,NM_003235,exon17,c.C3665T,p.S1222L,SNP,SNVindel,exonic,TG,NA,nonsynonymous SNV,TG:NM_003235:exon17:c.C3665T:p.S1222L,T,N,N,T,N,T
chr11,62302559,62302559,C,T,P137694_S,AHNAK,Silent,NM_001346445,exon4,c.G258A,p.L86L,SNP,SNVindel,exonic,AHNAK,NA,synonymous SNV,"AHNAK:NM_001346445:exon4:c.G258A:p.L86L,AHNAK:NM_001346446:exon4:c.G258A:p.L86L,AHNAK:NM_001620:exon4:c.G258A:p.L86L,AHNAK:NM_024060:exon4:c.G258A:p.L86L",NA,NA,NA,NA,NA,NA
chr14,105416253,105416253,C,T,P137694_S,AHNAK2,Silent,NM_001350929,exon7,c.G5235A,p.S1745S,SNP,SNVindel,exonic,AHNAK2,NA,synonymous SNV,"AHNAK2:NM_001350929:exon7:c.G5235A:p.S1745S,AHNAK2:NM_138420:exon7:c.G5535A:p.S1845S",NA,NA,NA,NA,NA,NA
chr20,5294865,5294865,C,T,P137694_S,PROKR2,Missense_Mutation,NM_144773,exon2,c.G151A,p.A51T,SNP,SNVindel,exonic,PROKR2,NA,nonsynonymous SNV,PROKR2:NM_144773:exon2:c.G151A:p.A51T,T,D,D,T,N,T
chr7,20198953,20198953,A,G,P137694_S,MACC1,Missense_Mutation,NM_182762,exon5,c.T1031C,p.M344T,SNP,SNVindel,exonic,MACC1,NA,nonsynonymous SNV,MACC1:NM_182762:exon5:c.T1031C:p.M344T,T,D,D,T,D,T
chr1,51826853,51826853,T,C,P137694_S,EPS15,Missense_Mutation,NM_001159969,exon12,c.A1592G,p.N531S,SNP,SNVindel,exonic,EPS15,NA,nonsynonymous SNV,"EPS15:NM_001159969:exon12:c.A1592G:p.N531S,EPS15:NM_001981:exon24:c.A2534G:p.N845S",T,.,D,T,N,T
chr10,5978442,5978442,G,A,P137694_S,FBH1,Silent,NM_178150,exon20,c.G2853A,p.L951L,SNP,SNVindel,exonic,FBH1,NA,synonymous SNV,"FBH1:NM_178150:exon20:c.G2853A:p.L951L,FBH1:NM_001258452:exon21:c.G2682A:p.L894L,FBH1:NM_001258453:exon21:c.G2631A:p.L877L,FBH1:NM_032807:exon21:c.G3006A:p.L1002L",NA,NA,NA,NA,NA,NA
chr12,56755652,56755652,C,T,P137694_S,APOF,Missense_Mutation,NM_001638,exon2,c.G338A,p.R113H,SNP,SNVindel,exonic,APOF,NA,nonsynonymous SNV,APOF:NM_001638:exon2:c.G338A:p.R113H,T,N,N,T,N,T
chr14,105415731,105415731,C,T,P137694_S,AHNAK2,Silent,NM_001350929,exon7,c.G5757A,p.E1919E,SNP,SNVindel,exonic,AHNAK2,NA,synonymous SNV,"AHNAK2:NM_001350929:exon7:c.G5757A:p.E1919E,AHNAK2:NM_138420:exon7:c.G6057A:p.E2019E",NA,NA,NA,NA,NA,NA
chr1,153509895,153509895,G,A,P137694_S,S100A5,Silent,NM_002962,exon4,c.C156T,p.I52I,SNP,SNVindel,exonic,S100A5,NA,synonymous SNV,S100A5:NM_002962:exon4:c.C156T:p.I52I,NA,NA,NA,NA,NA,NA
chr17,71027782,71027782,G,A,P137694_S,SLC39A11,Silent,NM_001159770,exon4,c.C219T,p.F73F,SNP,SNVindel,exonic,SLC39A11,NA,synonymous SNV,"SLC39A11:NM_001159770:exon4:c.C219T:p.F73F,SLC39A11:NM_001352692:exon4:c.C219T:p.F73F,SLC39A11:NM_001352693:exon4:c.C219T:p.F73F,SLC39A11:NM_139177:exon4:c.C219T:p.F73F,SLC39A11:NM_001352691:exon5:c.C219T:p.F73F",NA,NA,NA,NA,NA,NA
chr11,118516453,118516453,C,T,P137694_S,PHLDB1,Silent,NM_001144759,exon16,c.C3276T,p.S1092S,SNP,SNVindel,exonic,PHLDB1,NA,synonymous SNV,"PHLDB1:NM_001144759:exon16:c.C3276T:p.S1092S,PHLDB1:NM_001144758:exon17:c.C3417T:p.S1139S,PHLDB1:NM_015157:exon18:c.C3417T:p.S1139S",NA,NA,NA,NA,NA,NA
chr1,9324078,9324078,G,A,P137694_S,H6PD,Missense_Mutation,NM_001282587,exon5,c.G1559A,p.R520H,SNP,SNVindel,exonic,H6PD,NA,nonsynonymous SNV,"H6PD:NM_001282587:exon5:c.G1559A:p.R520H,H6PD:NM_004285:exon5:c.G1526A:p.R509H",T,N,N,D,N,T
chr1,22182404,22182404,G,A,P137694_S,HSPG2,Silent,NM_001291860,exon45,c.C5580T,p.A1860A,SNP,SNVindel,exonic,HSPG2,NA,synonymous SNV,"HSPG2:NM_001291860:exon45:c.C5580T:p.A1860A,HSPG2:NM_005529:exon45:c.C5577T:p.A1859A",NA,NA,NA,NA,NA,NA
chr1,155154504,155154504,C,G,P137694_S,TRIM46,Missense_Mutation,NM_001282378,exon8,c.C1387G,p.Q463E,SNP,SNVindel,exonic,TRIM46,NA,nonsynonymous SNV,"TRIM46:NM_001282378:exon8:c.C1387G:p.Q463E,TRIM46:NM_001256599:exon9:c.C1696G:p.Q566E,TRIM46:NM_001256601:exon9:c.C1726G:p.Q576E,TRIM46:NM_025058:exon9:c.C1765G:p.Q589E",T,D,D,T,N,T
chr2,46739478,46739478,G,A,P137694_S,ATP6V1E2,Missense_Mutation,NM_001371283,exon4,c.C373T,p.L125F,SNP,SNVindel,exonic,ATP6V1E2,NA,nonsynonymous SNV,"ATP6V1E2:NM_001371283:exon4:c.C373T:p.L125F,ATP6V1E2:NM_001318063:exon5:c.C373T:p.L125F,ATP6V1E2:NM_001371281:exon5:c.C373T:p.L125F,ATP6V1E2:NM_001371282:exon5:c.C373T:p.L125F",T,N,N,.,N,T
chr2,130872791,130872791,A,G,P137694_S,POTEF,Missense_Mutation,NM_001099771,exon4,c.T632C,p.I211T,SNP,SNVindel,exonic,POTEF,NA,nonsynonymous SNV,POTEF:NM_001099771:exon4:c.T632C:p.I211T,T,N,N,T,N,T
chr3,119120905,119120905,C,T,P137694_S,ARHGAP31,Missense_Mutation,NM_020754,exon10,c.C1306T,p.R436W,SNP,SNVindel,exonic,ARHGAP31,NA,nonsynonymous SNV,ARHGAP31:NM_020754:exon10:c.C1306T:p.R436W,D,D,D,T,D,T
chr3,138738723,138738723,G,A,P137694_S,PRR23B,Missense_Mutation,NM_001013650,exon1,c.C781T,p.R261C,SNP,SNVindel,exonic,PRR23B,NA,nonsynonymous SNV,PRR23B:NM_001013650:exon1:c.C781T:p.R261C,T,N,N,.,D,T
chr4,2065507,2065507,G,A,P137694_S,NAT8L,Missense_Mutation,NM_178557,exon3,c.G562A,p.V188M,SNP,SNVindel,exonic,NAT8L,NA,nonsynonymous SNV,NAT8L:NM_178557:exon3:c.G562A:p.V188M,D,U,D,T,N,T
chr4,123226034,123226034,C,T,P137694_S,KIAA1109,Nonsense_Mutation,NM_015312,exon54,c.C9568T,p.R3190X,SNP,SNVindel,exonic,KIAA1109,NA,stopgain,KIAA1109:NM_015312:exon54:c.C9568T:p.R3190X,.,D,A,.,.,.
chr4,145636516,145636516,G,A,P137694_S,HHIP,Missense_Mutation,NM_022475,exon10,c.G1612A,p.G538S,SNP,SNVindel,exonic,HHIP,NA,nonsynonymous SNV,HHIP:NM_022475:exon10:c.G1612A:p.G538S,D,D,D,T,D,T
chr5,140207965,140207965,G,C,P137694_S,PCDHA6,Missense_Mutation,NM_018909,exon1,c.G289C,p.G97R,SNP,SNVindel,exonic,PCDHA6,NA,nonsynonymous SNV,"PCDHA6:NM_018909:exon1:c.G289C:p.G97R,PCDHA6:NM_031848:exon1:c.G289C:p.G97R,PCDHA6:NM_031849:exon1:c.G289C:p.G97R",T,U,D,T,D,T
chr6,16295324,16295324,G,A,P137694_S,GMPR,Silent,NM_006877,exon9,c.G945A,p.T315T,SNP,SNVindel,exonic,GMPR,NA,synonymous SNV,GMPR:NM_006877:exon9:c.G945A:p.T315T,NA,NA,NA,NA,NA,NA
chr7,151927025,151927025,A,G,P137694_S,KMT2C,Missense_Mutation,NM_170606,exon18,c.T2959C,p.Y987H,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,D,U,D,D,D,D
chr7,151945140,151945140,C,T,P137694_S,KMT2C,Silent,NM_170606,exon14,c.G2379A,p.S793S,SNP,SNVindel,exonic,KMT2C,NA,synonymous SNV,KMT2C:NM_170606:exon14:c.G2379A:p.S793S,NA,NA,NA,NA,NA,NA
chr7,151945167,151945167,G,T,P137694_S,KMT2C,Silent,NM_170606,exon14,c.C2352A,p.S784S,SNP,SNVindel,exonic,KMT2C,NA,synonymous SNV,KMT2C:NM_170606:exon14:c.C2352A:p.S784S,NA,NA,NA,NA,NA,NA
chr7,151962134,151962134,G,T,P137694_S,KMT2C,Nonsense_Mutation,NM_170606,exon8,c.C1173A,p.C391X,SNP,SNVindel,exonic,KMT2C,NA,stopgain,KMT2C:NM_170606:exon8:c.C1173A:p.C391X,.,U,A,.,.,.
chr7,151962168,151962168,C,A,P137694_S,KMT2C,Missense_Mutation,NM_170606,exon8,c.G1139T,p.R380L,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon8:c.G1139T:p.R380L,T,U,D,D,D,D
chr7,151970859,151970859,C,T,P137694_S,KMT2C,Missense_Mutation,NM_170606,exon7,c.G943A,p.G315S,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon7:c.G943A:p.G315S,T,D,D,T,D,D
chr9,97081263,97081263,G,C,P137694_S,NUTM2F,Silent,NM_017561,exon7,c.C1755G,p.P585P,SNP,SNVindel,exonic,NUTM2F,NA,synonymous SNV,NUTM2F:NM_017561:exon7:c.C1755G:p.P585P,NA,NA,NA,NA,NA,NA
chr11,1271333,1271333,C,T,P137694_S,MUC5B,Missense_Mutation,NM_002458,exon31,c.C13223T,p.T4408M,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.C13223T:p.T4408M,T,.,N,T,N,T
chr11,56344882,56344882,C,T,P137694_S,OR5M10,Missense_Mutation,NM_001004741,exon1,c.G316A,p.A106T,SNP,SNVindel,exonic,OR5M10,NA,nonsynonymous SNV,OR5M10:NM_001004741:exon1:c.G316A:p.A106T,T,.,N,T,N,T
chr11,72421462,72421462,C,T,P137694_S,ARAP1,Missense_Mutation,NM_001135190,exon8,c.G649A,p.G217R,SNP,SNVindel,exonic,ARAP1,NA,nonsynonymous SNV,"ARAP1:NM_001135190:exon8:c.G649A:p.G217R,ARAP1:NM_001369489:exon8:c.G649A:p.G217R,ARAP1:NM_015242:exon8:c.G649A:p.G217R,ARAP1:NM_001040118:exon10:c.G1384A:p.G462R",T,N,N,T,D,T
chr11,113281641,113281641,G,A,P137694_S,DRD2,Silent,NM_016574,exon7,c.C1053T,p.G351G,SNP,SNVindel,exonic,DRD2,NA,synonymous SNV,"DRD2:NM_016574:exon7:c.C1053T:p.G351G,DRD2:NM_000795:exon8:c.C1140T:p.G380G",NA,NA,NA,NA,NA,NA
chr11,123886720,123886720,A,G,P137694_S,OR10G4,Missense_Mutation,NM_001004462,exon1,c.A439G,p.T147A,SNP,SNVindel,exonic,OR10G4,NA,nonsynonymous SNV,OR10G4:NM_001004462:exon1:c.A439G:p.T147A,T,N,N,T,N,T
chr12,3104142,3104142,C,T,P137694_S,TEAD4,Silent,NM_003213,exon3,c.C210T,p.D70D,SNP,SNVindel,exonic,TEAD4,NA,synonymous SNV,"TEAD4:NM_003213:exon3:c.C210T:p.D70D,TEAD4:NM_201441:exon3:c.C210T:p.D70D",NA,NA,NA,NA,NA,NA
chr12,52844401,52844401,G,A,P137694_S,KRT6B,Missense_Mutation,NM_005555,exon2,c.C544T,p.R182W,SNP,SNVindel,exonic,KRT6B,NA,nonsynonymous SNV,KRT6B:NM_005555:exon2:c.C544T:p.R182W,D,D,D,D,D,D
chr12,65471604,65471604,G,A,P137694_S,WIF1,Missense_Mutation,NM_007191,exon3,c.C319T,p.R107C,SNP,SNVindel,exonic,WIF1,NA,nonsynonymous SNV,WIF1:NM_007191:exon3:c.C319T:p.R107C,D,D,D,T,D,T
chr15,90631838,90631838,C,T,P137694_S,IDH2,Missense_Mutation,NM_001290114,exon2,c.G125A,p.R42K,SNP,SNVindel,exonic,IDH2,NA,nonsynonymous SNV,"IDH2:NM_001290114:exon2:c.G125A:p.R42K,IDH2:NM_001289910:exon4:c.G359A:p.R120K,IDH2:NM_002168:exon4:c.G515A:p.R172K",D,D,D,D,D,D
chr16,162760,162760,C,T,P137694_S,NPRL3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NPRL3,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr16,55857480,55857480,C,T,P137694_S,CES1,Missense_Mutation,NM_001025194,exon4,c.G518A,p.G173D,SNP,SNVindel,exonic,CES1,NA,nonsynonymous SNV,"CES1:NM_001025194:exon4:c.G518A:p.G173D,CES1:NM_001025195:exon4:c.G521A:p.G174D,CES1:NM_001266:exon4:c.G518A:p.G173D",D,D,D,T,D,D
chr17,7577539,7577539,G,A,P137694_S,TP53,Missense_Mutation,NM_001126115,exon3,c.C346T,p.R116W,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon3:c.C346T:p.R116W,TP53:NM_001126116:exon3:c.C346T:p.R116W,TP53:NM_001126117:exon3:c.C346T:p.R116W,TP53:NM_001276697:exon3:c.C265T:p.R89W,TP53:NM_001276698:exon3:c.C265T:p.R89W,TP53:NM_001276699:exon3:c.C265T:p.R89W,TP53:NM_001126118:exon6:c.C625T:p.R209W,TP53:NM_000546:exon7:c.C742T:p.R248W,TP53:NM_001126112:exon7:c.C742T:p.R248W,TP53:NM_001126113:exon7:c.C742T:p.R248W,TP53:NM_001126114:exon7:c.C742T:p.R248W,TP53:NM_001276695:exon7:c.C625T:p.R209W,TP53:NM_001276696:exon7:c.C625T:p.R209W,TP53:NM_001276760:exon7:c.C625T:p.R209W,TP53:NM_001276761:exon7:c.C625T:p.R209W",D,D,A,D,D,D
chr17,27417893,27417893,G,A,P137694_S,MYO18A,Missense_Mutation,NM_001346767,exon34,c.C5128T,p.R1710W,SNP,SNVindel,exonic,MYO18A,NA,nonsynonymous SNV,"MYO18A:NM_001346767:exon34:c.C5128T:p.R1710W,MYO18A:NM_001346768:exon35:c.C3865T:p.R1289W,MYO18A:NM_078471:exon35:c.C5239T:p.R1747W,MYO18A:NM_203318:exon35:c.C5239T:p.R1747W,MYO18A:NM_001346766:exon36:c.C5275T:p.R1759W,MYO18A:NM_001346765:exon37:c.C5296T:p.R1766W",D,D,D,D,D,D
chr19,7810766,7810766,C,T,P137694_S,CD209,Missense_Mutation,NM_001144893,exon2,c.G254A,p.R85Q,SNP,SNVindel,exonic,CD209,NA,nonsynonymous SNV,"CD209:NM_001144893:exon2:c.G254A:p.R85Q,CD209:NM_001144894:exon2:c.G254A:p.R85Q,CD209:NM_001144896:exon3:c.G314A:p.R105Q,CD209:NM_001144895:exon4:c.G386A:p.R129Q,CD209:NM_001144897:exon4:c.G386A:p.R129Q,CD209:NM_021155:exon4:c.G386A:p.R129Q",T,.,N,T,N,T
chr19,35173717,35173717,T,A,P137694_S,ZNF302,Missense_Mutation,NM_001012320,exon3,c.T45A,p.H15Q,SNP,SNVindel,exonic,ZNF302,NA,nonsynonymous SNV,"ZNF302:NM_001012320:exon3:c.T45A:p.H15Q,ZNF302:NM_001289182:exon3:c.T45A:p.H15Q,ZNF302:NM_001289183:exon3:c.T45A:p.H15Q,ZNF302:NM_001289184:exon3:c.T45A:p.H15Q,ZNF302:NM_001289185:exon3:c.T45A:p.H15Q,ZNF302:NM_001289186:exon3:c.T45A:p.H15Q,ZNF302:NM_001289187:exon3:c.T45A:p.H15Q,ZNF302:NM_001289188:exon3:c.T45A:p.H15Q,ZNF302:NM_001289189:exon3:c.T45A:p.H15Q,ZNF302:NM_001289190:exon3:c.T45A:p.H15Q,ZNF302:NM_001289191:exon3:c.T45A:p.H15Q,ZNF302:NM_001289192:exon3:c.T45A:p.H15Q,ZNF302:NM_018443:exon3:c.T45A:p.H15Q,ZNF302:NM_018675:exon3:c.T45A:p.H15Q,ZNF302:NM_001289181:exon4:c.T177A:p.H59Q",T,.,N,T,N,T
chr19,42880102,42880102,G,A,P137694_S,MEGF8,Silent,NM_001410,exon41,c.G7512A,p.P2504P,SNP,SNVindel,exonic,MEGF8,NA,synonymous SNV,"MEGF8:NM_001410:exon41:c.G7512A:p.P2504P,MEGF8:NM_001271938:exon42:c.G7713A:p.P2571P",NA,NA,NA,NA,NA,NA
chr19,48537552,48537552,C,T,P137694_S,CABP5,Missense_Mutation,NM_019855,exon5,c.G416A,p.G139E,SNP,SNVindel,exonic,CABP5,NA,nonsynonymous SNV,CABP5:NM_019855:exon5:c.G416A:p.G139E,D,D,D,T,D,T
chr19,55889475,55889475,C,A,P137694_S,TMEM190,Silent,NM_139172,exon5,c.C438A,p.V146V,SNP,SNVindel,exonic,TMEM190,NA,synonymous SNV,TMEM190:NM_139172:exon5:c.C438A:p.V146V,NA,NA,NA,NA,NA,NA
chr20,23667835,23667835,A,C,P137694_S,CST4,Missense_Mutation,NM_001899,exon2,c.T232G,p.F78V,SNP,SNVindel,exonic,CST4,NA,nonsynonymous SNV,CST4:NM_001899:exon2:c.T232G:p.F78V,T,N,N,T,N,T
chr20,47262499,47262499,G,A,P137694_S,PREX1,Silent,NM_020820,exon26,c.C3402T,p.S1134S,SNP,SNVindel,exonic,PREX1,NA,synonymous SNV,PREX1:NM_020820:exon26:c.C3402T:p.S1134S,NA,NA,NA,NA,NA,NA
chr22,50649090,50649090,C,T,P137694_S,SELENOO,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SELENOO,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr3,130287403,130287403,C,T,P176723_F,COL6A6,Missense_Mutation,NM_001102608,exon5,c.C2356T,p.R786C,SNP,SNVindel,exonic,COL6A6,NA,nonsynonymous SNV,COL6A6:NM_001102608:exon5:c.C2356T:p.R786C,T,N,N,D,N,T
chr4,76695831,76695831,C,T,P176723_F,USO1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,USO1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,33628362,33628362,C,T,P176723_F,KIAA1549L,Silent,NM_012194,exon14,c.C5055T,p.N1685N,SNP,SNVindel,exonic,KIAA1549L,NA,synonymous SNV,KIAA1549L:NM_012194:exon14:c.C5055T:p.N1685N,NA,NA,NA,NA,NA,NA
chr11,77961357,77961357,G,A,P176723_F,GAB2,Missense_Mutation,NM_012296,exon3,c.C352T,p.R118C,SNP,SNVindel,exonic,GAB2,NA,nonsynonymous SNV,"GAB2:NM_012296:exon3:c.C352T:p.R118C,GAB2:NM_080491:exon3:c.C466T:p.R156C",D,U,D,T,N,T
chr16,77353759,77353759,G,A,P176723_F,ADAMTS18,Missense_Mutation,NM_001326358,exon16,c.C2003T,p.T668M,SNP,SNVindel,exonic,ADAMTS18,NA,nonsynonymous SNV,"ADAMTS18:NM_001326358:exon16:c.C2003T:p.T668M,ADAMTS18:NM_199355:exon16:c.C2519T:p.T840M",D,D,D,T,D,T
chr22,31286876,31286876,C,T,P176723_F,OSBP2,Silent,NM_001282742,exon6,c.C417T,p.I139I,SNP,SNVindel,exonic,OSBP2,NA,synonymous SNV,"OSBP2:NM_001282742:exon6:c.C417T:p.I139I,OSBP2:NM_001282740:exon7:c.C684T:p.I228I,OSBP2:NM_001282741:exon7:c.C1011T:p.I337I,OSBP2:NM_001282739:exon8:c.C1782T:p.I594I,OSBP2:NM_030758:exon8:c.C1785T:p.I595I,OSBP2:NM_001282738:exon9:c.C1287T:p.I429I",NA,NA,NA,NA,NA,NA
chrX,107304722,107304722,C,T,P176723_F,VSIG1,Missense_Mutation,NM_001170553,exon3,c.C278T,p.T93M,SNP,SNVindel,exonic,VSIG1,NA,nonsynonymous SNV,VSIG1:NM_001170553:exon3:c.C278T:p.T93M,T,.,N,T,N,T
chr1,152285230,152285230,C,T,P176723_F,FLG,Missense_Mutation,NM_002016,exon3,c.G2132A,p.R711H,SNP,SNVindel,exonic,FLG,NA,nonsynonymous SNV,FLG:NM_002016:exon3:c.G2132A:p.R711H,T,.,N,T,N,T
chr10,72358324,72358324,G,A,P176723_F,PRF1,Missense_Mutation,NM_001083116,exon3,c.C1153T,p.R385W,SNP,SNVindel,exonic,PRF1,NA,nonsynonymous SNV,"PRF1:NM_001083116:exon3:c.C1153T:p.R385W,PRF1:NM_005041:exon3:c.C1153T:p.R385W",D,N,N,D,N,T
chr11,56185215,56185215,C,T,P176723_F,OR5R1,Missense_Mutation,NM_001004744,exon1,c.G494A,p.R165H,SNP,SNVindel,exonic,OR5R1,NA,nonsynonymous SNV,OR5R1:NM_001004744:exon1:c.G494A:p.R165H,T,.,N,T,N,T
chr16,2506732,2506732,G,A,P176723_F,CCNF,Missense_Mutation,NM_001323538,exon16,c.G1148A,p.R383Q,SNP,SNVindel,exonic,CCNF,NA,nonsynonymous SNV,"CCNF:NM_001323538:exon16:c.G1148A:p.R383Q,CCNF:NM_001761:exon17:c.G2072A:p.R691Q",T,N,N,T,N,T
chr17,76567034,76567034,G,A,P176723_F,DNAH17,Missense_Mutation,NM_173628,exon6,c.C914T,p.T305M,SNP,SNVindel,exonic,DNAH17,NA,nonsynonymous SNV,DNAH17:NM_173628:exon6:c.C914T:p.T305M,D,U,N,T,N,T
chr19,43415010,43415010,G,A,P176723_F,PSG6,Missense_Mutation,NM_001031850,exon3,c.C428T,p.S143L,SNP,SNVindel,exonic,PSG6,NA,nonsynonymous SNV,"PSG6:NM_001031850:exon3:c.C428T:p.S143L,PSG6:NM_002782:exon3:c.C428T:p.S143L",T,.,D,T,N,T
chr7,53103789,53103789,C,T,P176723_F,POM121L12,Missense_Mutation,NM_182595,exon1,c.C425T,p.A142V,SNP,SNVindel,exonic,POM121L12,NA,nonsynonymous SNV,POM121L12:NM_182595:exon1:c.C425T:p.A142V,D,.,N,T,D,T
chr11,51411931,51411931,C,T,P176723_F,OR4A5,Silent,NM_001005272,exon1,c.G465A,p.A155A,SNP,SNVindel,exonic,OR4A5,NA,synonymous SNV,OR4A5:NM_001005272:exon1:c.G465A:p.A155A,NA,NA,NA,NA,NA,NA
chr11,63585590,63585590,G,A,P176723_F,SPINDOC,Silent,NM_138471,exon2,c.G441A,p.P147P,SNP,SNVindel,exonic,SPINDOC,NA,synonymous SNV,SPINDOC:NM_138471:exon2:c.G441A:p.P147P,NA,NA,NA,NA,NA,NA
chr17,26900862,26900862,G,A,P176723_F,ALDOC,Missense_Mutation,NM_005165,exon8,c.C890T,p.A297V,SNP,SNVindel,exonic,ALDOC,NA,nonsynonymous SNV,ALDOC:NM_005165:exon8:c.C890T:p.A297V,D,D,D,D,N,D
chr17,71334847,71334847,C,T,P176723_F,SDK2,Missense_Mutation,NM_001144952,exon45,c.G6398A,p.R2133Q,SNP,SNVindel,exonic,SDK2,NA,nonsynonymous SNV,SDK2:NM_001144952:exon45:c.G6398A:p.R2133Q,D,D,D,T,N,T
chr20,31652621,31652621,C,T,P176723_F,BPIFB3,Silent,NM_182658,exon8,c.C894T,p.G298G,SNP,SNVindel,exonic,BPIFB3,NA,synonymous SNV,BPIFB3:NM_182658:exon8:c.C894T:p.G298G,NA,NA,NA,NA,NA,NA
chr6,75862112,75862112,C,T,P176723_F,COL12A1,Missense_Mutation,NM_080645,exon3,c.G160A,p.V54M,SNP,SNVindel,exonic,COL12A1,NA,nonsynonymous SNV,"COL12A1:NM_080645:exon3:c.G160A:p.V54M,COL12A1:NM_004370:exon18:c.G3652A:p.V1218M",D,D,D,D,N,T
chr8,145057659,145057659,C,G,P176723_F,PARP10,Missense_Mutation,NM_001317895,exon7,c.G2134C,p.D712H,SNP,SNVindel,exonic,PARP10,NA,nonsynonymous SNV,"PARP10:NM_001317895:exon7:c.G2134C:p.D712H,PARP10:NM_032789:exon8:c.G2098C:p.D700H",D,N,N,T,N,T
chr15,98995202,98995202,C,A,P176723_F,FAM169B,Silent,NM_182562,exon5,c.G222T,p.L74L,SNP,SNVindel,exonic,FAM169B,NA,synonymous SNV,FAM169B:NM_182562:exon5:c.G222T:p.L74L,NA,NA,NA,NA,NA,NA
chr22,43950819,43950819,G,A,P176723_F,EFCAB6,Missense_Mutation,NM_198856,exon25,c.C3122T,p.T1041M,SNP,SNVindel,exonic,EFCAB6,NA,nonsynonymous SNV,"EFCAB6:NM_198856:exon25:c.C3122T:p.T1041M,EFCAB6:NM_022785:exon27:c.C3578T:p.T1193M",D,N,N,T,N,T
chr1,36227601,36227601,C,T,P176723_F,CLSPN,Missense_Mutation,NM_001190481,exon6,c.G893A,p.R298Q,SNP,SNVindel,exonic,CLSPN,NA,nonsynonymous SNV,"CLSPN:NM_001190481:exon6:c.G893A:p.R298Q,CLSPN:NM_001330490:exon6:c.G893A:p.R298Q,CLSPN:NM_022111:exon6:c.G893A:p.R298Q",D,D,D,T,D,T
chr19,57333112,57333112,C,T,P176723_F,PEG3,Silent,NM_001146184,exon6,c.G576A,p.P192P,SNP,SNVindel,exonic,PEG3;ZIM2,NA,synonymous SNV,"PEG3:NM_001146184:exon6:c.G576A:p.P192P,PEG3:NM_001146185:exon6:c.G198A:p.P66P,PEG3:NM_001146187:exon6:c.G201A:p.P67P,PEG3:NM_001369717:exon6:c.G579A:p.P193P,PEG3:NM_001369721:exon6:c.G201A:p.P67P,PEG3:NM_001369725:exon6:c.G201A:p.P67P,PEG3:NM_001369733:exon6:c.G201A:p.P67P,PEG3:NM_001369735:exon6:c.G201A:p.P67P,PEG3:NM_001369736:exon6:c.G201A:p.P67P,ZIM2:NM_001369772:exon6:c.G201A:p.P67P,ZIM2:NM_001369773:exon6:c.G201A:p.P67P,ZIM2:NM_001369774:exon6:c.G201A:p.P67P,ZIM2:NM_015363:exon6:c.G201A:p.P67P,ZIM2:NM_001146326:exon7:c.G201A:p.P67P,ZIM2:NM_001146327:exon7:c.G201A:p.P67P,PEG3:NM_001369718:exon7:c.G579A:p.P193P,PEG3:NM_001369719:exon7:c.G579A:p.P193P,PEG3:NM_001369722:exon7:c.G201A:p.P67P,PEG3:NM_001369727:exon7:c.G201A:p.P67P,PEG3:NM_001369729:exon7:c.G201A:p.P67P,PEG3:NM_001369730:exon7:c.G201A:p.P67P,PEG3:NM_001369732:exon7:c.G201A:p.P67P,PEG3:NM_001369734:exon7:c.G201A:p.P67P,PEG3:NM_001369737:exon7:c.G201A:p.P67P,PEG3:NM_001369739:exon7:c.G201A:p.P67P,ZIM2:NM_001369770:exon7:c.G201A:p.P67P,ZIM2:NM_001369771:exon7:c.G201A:p.P67P,PEG3:NM_006210:exon7:c.G576A:p.P192P,PEG3:NM_001369723:exon8:c.G201A:p.P67P,PEG3:NM_001369726:exon8:c.G201A:p.P67P,PEG3:NM_001369728:exon8:c.G201A:p.P67P,PEG3:NM_001369731:exon8:c.G201A:p.P67P,PEG3:NM_001369738:exon8:c.G201A:p.P67P,PEG3:NM_001369720:exon9:c.G201A:p.P67P,PEG3:NM_001369724:exon9:c.G201A:p.P67P",NA,NA,NA,NA,NA,NA
chr7,142459834,142459834,C,T,P176723_F,PRSS1,Missense_Mutation,NM_002769,exon3,c.C410T,p.T137M,SNP,SNVindel,exonic,PRSS1,NA,nonsynonymous SNV,PRSS1:NM_002769:exon3:c.C410T:p.T137M,D,D,D,D,D,D
chr9,35108261,35108261,A,T,P176723_F,FAM214B,Missense_Mutation,NM_001317991,exon3,c.T11A,p.V4E,SNP,SNVindel,exonic,FAM214B,NA,nonsynonymous SNV,"FAM214B:NM_001317991:exon3:c.T11A:p.V4E,FAM214B:NM_025182:exon3:c.T11A:p.V4E",D,D,D,.,N,T
chr11,124857495,124857495,A,C,P176723_F,CCDC15,Missense_Mutation,NM_025004,exon8,c.A1373C,p.H458P,SNP,SNVindel,exonic,CCDC15,NA,nonsynonymous SNV,CCDC15:NM_025004:exon8:c.A1373C:p.H458P,T,.,N,T,N,T
chr1,228461504,228461504,G,A,P176723_F,OBSCN,Missense_Mutation,NM_001098623,exon18,c.G5171A,p.R1724H,SNP,SNVindel,exonic,OBSCN,NA,nonsynonymous SNV,"OBSCN:NM_001098623:exon18:c.G5171A:p.R1724H,OBSCN:NM_052843:exon18:c.G5171A:p.R1724H,OBSCN:NM_001271223:exon22:c.G6296A:p.R2099H",T,N,N,T,N,T
chr3,130346196,130346196,G,A,P176723_F,COL6A6,Missense_Mutation,NM_001102608,exon25,c.G4975A,p.G1659R,SNP,SNVindel,exonic,COL6A6,NA,nonsynonymous SNV,COL6A6:NM_001102608:exon25:c.G4975A:p.G1659R,D,.,N,D,D,D
chr9,123886324,123886324,C,T,P176723_F,CNTRL,Missense_Mutation,NM_001330762,exon2,c.C110T,p.T37M,SNP,SNVindel,exonic,CNTRL,NA,nonsynonymous SNV,"CNTRL:NM_001330762:exon2:c.C110T:p.T37M,CNTRL:NM_001369892:exon2:c.C110T:p.T37M,CNTRL:NM_007018:exon11:c.C1766T:p.T589M,CNTRL:NM_001369893:exon12:c.C1766T:p.T589M,CNTRL:NM_001369895:exon12:c.C1265T:p.T422M,CNTRL:NM_001369894:exon13:c.C1823T:p.T608M",T,.,D,T,N,T
chr19,9083317,9083317,G,T,P176723_F,MUC16,Missense_Mutation,NM_024690,exon1,c.C8498A,p.T2833N,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.C8498A:p.T2833N,D,.,N,T,N,T
chr20,1559075,1559075,G,A,P176723_F,SIRPB1,Silent,NM_001083910,exon2,c.C342T,p.D114D,SNP,SNVindel,exonic,SIRPB1,NA,synonymous SNV,"SIRPB1:NM_001083910:exon2:c.C342T:p.D114D,SIRPB1:NM_001330639:exon2:c.C339T:p.D113D,SIRPB1:NM_006065:exon2:c.C342T:p.D114D",NA,NA,NA,NA,NA,NA
chr1,34112263,34112263,C,T,P176723_F,CSMD2,Missense_Mutation,NM_001281956,exon29,c.G4759A,p.V1587I,SNP,SNVindel,exonic,CSMD2,NA,nonsynonymous SNV,"CSMD2:NM_001281956:exon29:c.G4759A:p.V1587I,CSMD2:NM_052896:exon29:c.G4639A:p.V1547I",T,D,D,T,N,T
chr2,234638394,234638394,A,C,P176723_F,UGT1A3,Missense_Mutation,NM_019093,exon1,c.A622C,p.M208L,SNP,SNVindel,exonic,UGT1A3,NA,nonsynonymous SNV,UGT1A3:NM_019093:exon1:c.A622C:p.M208L,T,.,D,T,N,T
chr11,16872807,16872807,G,C,P176723_F,PLEKHA7,Missense_Mutation,NM_001329630,exon8,c.C627G,p.I209M,SNP,SNVindel,exonic,PLEKHA7,NA,nonsynonymous SNV,"PLEKHA7:NM_001329630:exon8:c.C627G:p.I209M,PLEKHA7:NM_001329631:exon8:c.C627G:p.I209M,PLEKHA7:NM_175058:exon8:c.C627G:p.I209M",D,D,D,D,N,D
chr5,140625340,140625340,G,A,P176723_F,PCDHB15,Missense_Mutation,NM_018935,exon1,c.G194A,p.R65Q,SNP,SNVindel,exonic,PCDHB15,NA,nonsynonymous SNV,PCDHB15:NM_018935:exon1:c.G194A:p.R65Q,T,.,N,T,D,T
chr4,2073982,2073982,G,A,P176723_F,POLN,Silent,NM_181808,exon26,c.C2562T,p.H854H,SNP,SNVindel,exonic,POLN,NA,synonymous SNV,POLN:NM_181808:exon26:c.C2562T:p.H854H,NA,NA,NA,NA,NA,NA
chr15,25959224,25959224,G,A,P176723_F,ATP10A,Silent,NM_024490,exon10,c.C1941T,p.S647S,SNP,SNVindel,exonic,ATP10A,NA,synonymous SNV,ATP10A:NM_024490:exon10:c.C1941T:p.S647S,NA,NA,NA,NA,NA,NA
chr20,36766724,36766724,T,C,P176723_F,TGM2,Missense_Mutation,NM_001323317,exon9,c.A1163G,p.E388G,SNP,SNVindel,exonic,TGM2,NA,nonsynonymous SNV,"TGM2:NM_001323317:exon9:c.A1163G:p.E388G,TGM2:NM_001323318:exon9:c.A1226G:p.E409G,TGM2:NM_004613:exon10:c.A1406G:p.E469G,TGM2:NM_198951:exon10:c.A1406G:p.E469G,TGM2:NM_001323316:exon11:c.A1406G:p.E469G",T,N,N,T,N,T
chr2,227886828,227886828,C,T,P176723_F,COL4A4,Silent,NM_000092,exon44,c.G4152A,p.A1384A,SNP,SNVindel,exonic,COL4A4,NA,synonymous SNV,COL4A4:NM_000092:exon44:c.G4152A:p.A1384A,NA,NA,NA,NA,NA,NA
chr6,80626571,80626571,C,T,P176723_F,ELOVL4,Silent,NM_022726,exon6,c.G699A,p.T233T,SNP,SNVindel,exonic,ELOVL4,NA,synonymous SNV,ELOVL4:NM_022726:exon6:c.G699A:p.T233T,NA,NA,NA,NA,NA,NA
chr11,68343436,68343436,C,T,P176723_F,PPP6R3,Silent,NM_001352353,exon12,c.C984T,p.D328D,SNP,SNVindel,exonic,PPP6R3,NA,synonymous SNV,"PPP6R3:NM_001352353:exon12:c.C984T:p.D328D,PPP6R3:NM_001352347:exon13:c.C795T:p.D265D,PPP6R3:NM_001352351:exon13:c.C1197T:p.D399D,PPP6R3:NM_001352355:exon13:c.C1197T:p.D399D,PPP6R3:NM_001352358:exon13:c.C1317T:p.D439D,PPP6R3:NM_001352359:exon13:c.C1197T:p.D399D,PPP6R3:NM_001352361:exon13:c.C1197T:p.D399D,PPP6R3:NM_001352370:exon13:c.C1197T:p.D399D,PPP6R3:NM_001352374:exon13:c.C1197T:p.D399D,PPP6R3:NM_001164160:exon14:c.C1470T:p.D490D,PPP6R3:NM_001164161:exon14:c.C1470T:p.D490D,PPP6R3:NM_001164162:exon14:c.C1470T:p.D490D,PPP6R3:NM_001164163:exon14:c.C1470T:p.D490D,PPP6R3:NM_001164164:exon14:c.C1317T:p.D439D,PPP6R3:NM_001352350:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352352:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352356:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352357:exon14:c.C795T:p.D265D,PPP6R3:NM_001352365:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352366:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352369:exon14:c.C795T:p.D265D,PPP6R3:NM_001352373:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352377:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352378:exon14:c.C1197T:p.D399D,PPP6R3:NM_018312:exon14:c.C1317T:p.D439D,PPP6R3:NM_001352348:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352354:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352360:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352362:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352363:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352364:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352368:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352371:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352372:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352375:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352376:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352380:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352379:exon16:c.C1470T:p.D490D",NA,NA,NA,NA,NA,NA
chr1,17318282,17318282,G,A,P176723_F,ATP13A2,Missense_Mutation,NM_001141973,exon20,c.C2183T,p.T728M,SNP,SNVindel,exonic,ATP13A2,NA,nonsynonymous SNV,"ATP13A2:NM_001141973:exon20:c.C2183T:p.T728M,ATP13A2:NM_001141974:exon20:c.C2183T:p.T728M,ATP13A2:NM_022089:exon20:c.C2198T:p.T733M",D,N,N,T,D,T
chr13,114525022,114525022,G,A,P176723_F,GAS6,Silent,NM_000820,exon14,c.C1791T,p.S597S,SNP,SNVindel,exonic,GAS6,NA,synonymous SNV,GAS6:NM_000820:exon14:c.C1791T:p.S597S,NA,NA,NA,NA,NA,NA
chr17,7979002,7979002,G,A,P176723_F,ALOX12B,Missense_Mutation,NM_001139,exon12,c.C1565T,p.P522L,SNP,SNVindel,exonic,ALOX12B,NA,nonsynonymous SNV,ALOX12B:NM_001139:exon12:c.C1565T:p.P522L,D,N,N,D,D,T
chr1,11576065,11576065,C,T,P176723_F,DISP3,Silent,NM_020780,exon6,c.C1596T,p.D532D,SNP,SNVindel,exonic,DISP3,NA,synonymous SNV,DISP3:NM_020780:exon6:c.C1596T:p.D532D,NA,NA,NA,NA,NA,NA
chr22,24919647,24919647,G,A,P176723_F,UPB1,Missense_Mutation,NM_016327,exon9,c.G977A,p.R326Q,SNP,SNVindel,exonic,UPB1,NA,nonsynonymous SNV,UPB1:NM_016327:exon9:c.G977A:p.R326Q,T,D,D,D,D,D
chr4,71472089,71472089,C,T,P176723_F,AMBN,Missense_Mutation,NM_016519,exon13,c.C986T,p.P329L,SNP,SNVindel,exonic,AMBN,NA,nonsynonymous SNV,AMBN:NM_016519:exon13:c.C986T:p.P329L,D,N,N,T,D,T
chr6,24448111,24448111,C,T,P176723_F,GPLD1,Missense_Mutation,NM_001503,exon17,c.G1672A,p.D558N,SNP,SNVindel,exonic,GPLD1,NA,nonsynonymous SNV,GPLD1:NM_001503:exon17:c.G1672A:p.D558N,T,N,N,T,N,T
chr1,152284450,152284450,C,T,P176723_F,FLG,Missense_Mutation,NM_002016,exon3,c.G2912A,p.R971H,SNP,SNVindel,exonic,FLG,NA,nonsynonymous SNV,FLG:NM_002016:exon3:c.G2912A:p.R971H,T,.,N,T,N,T
chr12,51754613,51754613,C,T,P176723_F,GALNT6,Silent,NM_007210,exon7,c.G1059A,p.T353T,SNP,SNVindel,exonic,GALNT6,NA,synonymous SNV,GALNT6:NM_007210:exon7:c.G1059A:p.T353T,NA,NA,NA,NA,NA,NA
chr6,38754694,38754694,A,G,P176723_F,DNAH8,Missense_Mutation,NM_001371,exon17,c.A1898G,p.E633G,SNP,SNVindel,exonic,DNAH8,NA,nonsynonymous SNV,"DNAH8:NM_001371:exon17:c.A1898G:p.E633G,DNAH8:NM_001206927:exon18:c.A2549G:p.E850G",T,D,D,T,D,T
chr19,15465960,15465960,G,A,P176723_F,AKAP8,Silent,NM_005858,exon14,c.C1845T,p.A615A,SNP,SNVindel,exonic,AKAP8,NA,synonymous SNV,AKAP8:NM_005858:exon14:c.C1845T:p.A615A,NA,NA,NA,NA,NA,NA
chr6,123101544,123101544,C,T,P176723_F,FABP7,Missense_Mutation,NM_001319039,exon2,c.C182T,p.T61M,SNP,SNVindel,exonic,FABP7,NA,nonsynonymous SNV,"FABP7:NM_001319039:exon2:c.C182T:p.T61M,FABP7:NM_001319041:exon2:c.C182T:p.T61M,FABP7:NM_001319042:exon2:c.C170T:p.T57M,FABP7:NM_001446:exon2:c.C182T:p.T61M",D,D,D,T,D,T
chr9,19345978,19345978,G,A,P176723_F,DENND4C,Missense_Mutation,NM_017925,exon22,c.G3064A,p.E1022K,SNP,SNVindel,exonic,DENND4C,NA,nonsynonymous SNV,"DENND4C:NM_017925:exon22:c.G3064A:p.E1022K,DENND4C:NM_001330640:exon23:c.G3211A:p.E1071K",.,N,N,T,.,T
chr1,144617163,144617163,T,C,P176723_F,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr9,139008606,139008606,C,T,P176723_F,TMEM250,Silent,NM_001256526,exon2,c.G141A,p.T47T,SNP,SNVindel,exonic,TMEM250,NA,synonymous SNV,"TMEM250:NM_001256526:exon2:c.G141A:p.T47T,TMEM250:NM_152833:exon2:c.G141A:p.T47T",NA,NA,NA,NA,NA,NA
chr2,178417136,178417136,T,C,P176723_F,TTC30B,Missense_Mutation,NM_152517,exon1,c.A356G,p.Q119R,SNP,SNVindel,exonic,TTC30B,NA,nonsynonymous SNV,TTC30B:NM_152517:exon1:c.A356G:p.Q119R,T,D,D,T,D,T
chr1,12942020,12942020,T,C,P176723_F,PRAMEF4,Missense_Mutation,NM_001009611,exon3,c.A530G,p.K177R,SNP,SNVindel,exonic,PRAMEF4,NA,nonsynonymous SNV,PRAMEF4:NM_001009611:exon3:c.A530G:p.K177R,T,N,N,T,N,T
chr1,33478946,33478946,G,A,P176723_F,AK2,Missense_Mutation,NM_001319142,exon5,c.C430T,p.R144C,SNP,SNVindel,exonic,AK2,NA,nonsynonymous SNV,"AK2:NM_001319142:exon5:c.C430T:p.R144C,AK2:NM_001199199:exon6:c.C532T:p.R178C,AK2:NM_001319141:exon6:c.C556T:p.R186C,AK2:NM_001625:exon6:c.C556T:p.R186C,AK2:NM_013411:exon6:c.C556T:p.R186C,AK2:NM_001319139:exon7:c.C412T:p.R138C,AK2:NM_001319140:exon7:c.C412T:p.R138C",D,D,D,D,D,D
chr1,104122014,104122014,T,C,P176723_F,AMY2B,Silent,NM_020978,exon12,c.T1428C,p.N476N,SNP,SNVindel,exonic,AMY2B,NA,synonymous SNV,AMY2B:NM_020978:exon12:c.T1428C:p.N476N,NA,NA,NA,NA,NA,NA
chr1,152284263,152284263,G,A,P176723_F,FLG,Silent,NM_002016,exon3,c.C3099T,p.H1033H,SNP,SNVindel,exonic,FLG,NA,synonymous SNV,FLG:NM_002016:exon3:c.C3099T:p.H1033H,NA,NA,NA,NA,NA,NA
chr1,248605088,248605088,G,A,P176723_F,OR2T7,Missense_Mutation,NM_001355223,exon1,c.G671A,p.C224Y,SNP,SNVindel,exonic,OR2T7,NA,nonsynonymous SNV,OR2T7:NM_001355223:exon1:c.G671A:p.C224Y,.,.,.,.,.,.
chr2,27150238,27150238,G,A,P176723_F,DPYSL5,Missense_Mutation,NM_001253723,exon4,c.G538A,p.A180T,SNP,SNVindel,exonic,DPYSL5,NA,nonsynonymous SNV,"DPYSL5:NM_001253723:exon4:c.G538A:p.A180T,DPYSL5:NM_001253724:exon4:c.G538A:p.A180T,DPYSL5:NM_020134:exon4:c.G538A:p.A180T",T,N,N,D,N,T
chr2,48808302,48808302,G,A,P176723_F,STON1,Missense_Mutation,NM_001198594,exon1,c.G530A,p.R177Q,SNP,SNVindel,exonic,STON1;STON1-GTF2A1L,NA,nonsynonymous SNV,"STON1-GTF2A1L:NM_001198594:exon1:c.G530A:p.R177Q,STON1-GTF2A1L:NM_001198593:exon2:c.G530A:p.R177Q,STON1:NM_006873:exon2:c.G530A:p.R177Q,STON1-GTF2A1L:NM_172311:exon2:c.G530A:p.R177Q,STON1:NM_001198595:exon3:c.G530A:p.R177Q",T,N,N,T,N,T
chr2,130872871,130872871,C,T,P176723_F,POTEF,Silent,NM_001099771,exon4,c.G552A,p.G184G,SNP,SNVindel,exonic,POTEF,NA,synonymous SNV,POTEF:NM_001099771:exon4:c.G552A:p.G184G,NA,NA,NA,NA,NA,NA
chr2,220471821,220471821,C,T,P176723_F,STK11IP,Missense_Mutation,NM_052902,exon13,c.C1181T,p.T394M,SNP,SNVindel,exonic,STK11IP,NA,nonsynonymous SNV,STK11IP:NM_052902:exon13:c.C1181T:p.T394M,D,D,D,T,D,T
chr2,238280668,238280668,C,T,P176723_F,COL6A3,Missense_Mutation,NM_057166,exon6,c.G2171A,p.R724H,SNP,SNVindel,exonic,COL6A3,NA,nonsynonymous SNV,"COL6A3:NM_057166:exon6:c.G2171A:p.R724H,COL6A3:NM_057164:exon7:c.G2771A:p.R924H,COL6A3:NM_057165:exon8:c.G3374A:p.R1125H,COL6A3:NM_057167:exon8:c.G3374A:p.R1125H,COL6A3:NM_004369:exon9:c.G3992A:p.R1331H",D,D,D,T,D,D
chr3,44598729,44598729,G,A,P176723_F,ZKSCAN7,Missense_Mutation,NM_001288590,exon2,c.G190A,p.E64K,SNP,SNVindel,exonic,ZKSCAN7,NA,nonsynonymous SNV,"ZKSCAN7:NM_001288590:exon2:c.G190A:p.E64K,ZKSCAN7:NM_001288591:exon2:c.G190A:p.E64K,ZKSCAN7:NM_018651:exon2:c.G190A:p.E64K,ZKSCAN7:NM_025169:exon2:c.G190A:p.E64K",D,N,D,T,D,T
chr5,38489298,38489298,C,T,P176723_F,LIFR,Silent,NM_001127671,exon16,c.G2217A,p.S739S,SNP,SNVindel,exonic,LIFR,NA,synonymous SNV,"LIFR:NM_001127671:exon16:c.G2217A:p.S739S,LIFR:NM_001364297:exon16:c.G2217A:p.S739S,LIFR:NM_001364298:exon16:c.G2217A:p.S739S,LIFR:NM_002310:exon16:c.G2217A:p.S739S",NA,NA,NA,NA,NA,NA
chr5,140207965,140207965,G,C,P176723_F,PCDHA6,Missense_Mutation,NM_018909,exon1,c.G289C,p.G97R,SNP,SNVindel,exonic,PCDHA6,NA,nonsynonymous SNV,"PCDHA6:NM_018909:exon1:c.G289C:p.G97R,PCDHA6:NM_031848:exon1:c.G289C:p.G97R,PCDHA6:NM_031849:exon1:c.G289C:p.G97R",T,U,D,T,D,T
chr5,140214974,140214974,G,C,P176723_F,PCDHA7,Missense_Mutation,NM_018910,exon1,c.G1006C,p.V336L,SNP,SNVindel,exonic,PCDHA7,NA,nonsynonymous SNV,"PCDHA7:NM_018910:exon1:c.G1006C:p.V336L,PCDHA7:NM_031852:exon1:c.G1006C:p.V336L",T,U,N,T,N,T
chr6,46826407,46826407,C,T,P176723_F,ADGRF5,Missense_Mutation,NM_001098518,exon17,c.G3233A,p.R1078H,SNP,SNVindel,exonic,ADGRF5,NA,nonsynonymous SNV,"ADGRF5:NM_001098518:exon17:c.G3233A:p.R1078H,ADGRF5:NM_015234:exon17:c.G3233A:p.R1078H",T,N,N,T,N,T
chr6,161026093,161026093,G,T,P176723_F,LPA,Missense_Mutation,NM_005577,exon18,c.C2930A,p.A977E,SNP,SNVindel,exonic,LPA,NA,nonsynonymous SNV,LPA:NM_005577:exon18:c.C2930A:p.A977E,T,.,N,T,N,T
chr7,55211080,55211080,G,A,P176723_F,EGFR,Missense_Mutation,NM_001346897,exon3,c.G323A,p.R108K,SNP,SNVindel,exonic,EGFR,NA,nonsynonymous SNV,"EGFR:NM_001346897:exon3:c.G323A:p.R108K,EGFR:NM_001346898:exon3:c.G323A:p.R108K,EGFR:NM_001346899:exon3:c.G323A:p.R108K,EGFR:NM_001346900:exon3:c.G164A:p.R55K,EGFR:NM_005228:exon3:c.G323A:p.R108K,EGFR:NM_201282:exon3:c.G323A:p.R108K,EGFR:NM_201283:exon3:c.G323A:p.R108K,EGFR:NM_201284:exon3:c.G323A:p.R108K",D,D,D,T,N,D
chr7,142655011,142655011,C,T,P176723_F,KEL,Missense_Mutation,NM_000420,exon6,c.G575A,p.R192Q,SNP,SNVindel,exonic,KEL,NA,nonsynonymous SNV,KEL:NM_000420:exon6:c.G575A:p.R192Q,T,N,N,T,N,T
chr7,157449064,157449064,G,A,P176723_F,PTPRN2,Silent,NM_001308267,exon13,c.C2067T,p.T689T,SNP,SNVindel,exonic,PTPRN2,NA,synonymous SNV,"PTPRN2:NM_001308267:exon13:c.C2067T:p.T689T,PTPRN2:NM_130842:exon13:c.C2130T:p.T710T,PTPRN2:NM_130843:exon13:c.C2094T:p.T698T,PTPRN2:NM_001308268:exon14:c.C2250T:p.T750T,PTPRN2:NM_002847:exon14:c.C2181T:p.T727T",NA,NA,NA,NA,NA,NA
chr9,139944736,139944736,C,G,P176723_F,ENTPD2,Silent,NM_001246,exon6,c.G1029C,p.V343V,SNP,SNVindel,exonic,ENTPD2,NA,synonymous SNV,"ENTPD2:NM_001246:exon6:c.G1029C:p.V343V,ENTPD2:NM_203468:exon6:c.G1029C:p.V343V",NA,NA,NA,NA,NA,NA
chr10,84118524,84118524,G,A,P176723_F,NRG3,Missense_Mutation,NM_001010848,exon2,c.G853A,p.E285K,SNP,SNVindel,exonic,NRG3,NA,nonsynonymous SNV,"NRG3:NM_001010848:exon2:c.G853A:p.E285K,NRG3:NM_001165972:exon2:c.G853A:p.E285K,NRG3:NM_001370081:exon2:c.G853A:p.E285K,NRG3:NM_001370083:exon2:c.G853A:p.E285K,NRG3:NM_001370084:exon2:c.G853A:p.E285K,NRG3:NM_001165973:exon3:c.G190A:p.E64K,NRG3:NM_001370082:exon4:c.G286A:p.E96K",D,D,D,T,N,T
chr11,126074167,126074167,C,T,P176723_F,RPUSD4,Missense_Mutation,NM_001144827,exon6,c.G760A,p.G254S,SNP,SNVindel,exonic,RPUSD4,NA,nonsynonymous SNV,"RPUSD4:NM_001144827:exon6:c.G760A:p.G254S,RPUSD4:NM_001363516:exon6:c.G853A:p.G285S,RPUSD4:NM_032795:exon6:c.G853A:p.G285S",D,D,D,T,D,T
chr12,56994088,56994088,G,A,P176723_F,BAZ2A,Missense_Mutation,NM_001300905,exon24,c.C4789T,p.R1597W,SNP,SNVindel,exonic,BAZ2A,NA,nonsynonymous SNV,"BAZ2A:NM_001300905:exon24:c.C4789T:p.R1597W,BAZ2A:NM_013449:exon24:c.C4795T:p.R1599W,BAZ2A:NM_001351156:exon26:c.C4699T:p.R1567W",D,D,D,D,D,D
chr14,24429180,24429180,A,C,P176723_F,DHRS4,Missense_Mutation,NM_001282987,exon3,c.A376C,p.I126L,SNP,SNVindel,exonic,DHRS4,NA,nonsynonymous SNV,"DHRS4:NM_001282987:exon3:c.A376C:p.I126L,DHRS4:NM_001282989:exon3:c.A376C:p.I126L,DHRS4:NM_021004:exon3:c.A376C:p.I126L",T,N,N,T,N,T
chr15,89400022,89400022,T,C,P176723_F,ACAN,Silent,NM_001135,exon12,c.T4206C,p.T1402T,SNP,SNVindel,exonic,ACAN,NA,synonymous SNV,"ACAN:NM_001135:exon12:c.T4206C:p.T1402T,ACAN:NM_001369268:exon12:c.T4206C:p.T1402T,ACAN:NM_013227:exon12:c.T4206C:p.T1402T",NA,NA,NA,NA,NA,NA
chr15,91524890,91524890,G,A,P176723_F,PRC1,Missense_Mutation,NM_001267580,exon4,c.C388T,p.R130C,SNP,SNVindel,exonic,PRC1,NA,nonsynonymous SNV,"PRC1:NM_001267580:exon4:c.C388T:p.R130C,PRC1:NM_003981:exon5:c.C511T:p.R171C,PRC1:NM_199413:exon5:c.C511T:p.R171C",D,N,D,T,N,T
chr16,70211370,70211370,C,G,P176723_F,CLEC18C,Missense_Mutation,NM_173619,exon4,c.C443G,p.T148S,SNP,SNVindel,exonic,CLEC18C,NA,nonsynonymous SNV,CLEC18C:NM_173619:exon4:c.C443G:p.T148S,T,N,N,T,N,T
chr17,72339240,72339240,C,T,P176723_F,KIF19,Missense_Mutation,NM_153209,exon5,c.C397T,p.R133C,SNP,SNVindel,exonic,KIF19,NA,nonsynonymous SNV,KIF19:NM_153209:exon5:c.C397T:p.R133C,D,.,D,T,D,T
chr19,7810448,7810448,T,A,P176723_F,CD209,Missense_Mutation,NM_001144894,exon2,c.A572T,p.Q191L,SNP,SNVindel,exonic,CD209,NA,nonsynonymous SNV,"CD209:NM_001144894:exon2:c.A572T:p.Q191L,CD209:NM_001144896:exon3:c.A632T:p.Q211L,CD209:NM_001144897:exon4:c.A704T:p.Q235L,CD209:NM_021155:exon4:c.A704T:p.Q235L",T,.,N,T,D,T
chr19,17611569,17611569,G,A,P176723_F,SLC27A1,Missense_Mutation,NM_198580,exon10,c.G1520A,p.R507H,SNP,SNVindel,exonic,SLC27A1,NA,nonsynonymous SNV,SLC27A1:NM_198580:exon10:c.G1520A:p.R507H,D,D,D,D,D,D
chr19,35173717,35173717,T,A,P176723_F,ZNF302,Missense_Mutation,NM_001012320,exon3,c.T45A,p.H15Q,SNP,SNVindel,exonic,ZNF302,NA,nonsynonymous SNV,"ZNF302:NM_001012320:exon3:c.T45A:p.H15Q,ZNF302:NM_001289182:exon3:c.T45A:p.H15Q,ZNF302:NM_001289183:exon3:c.T45A:p.H15Q,ZNF302:NM_001289184:exon3:c.T45A:p.H15Q,ZNF302:NM_001289185:exon3:c.T45A:p.H15Q,ZNF302:NM_001289186:exon3:c.T45A:p.H15Q,ZNF302:NM_001289187:exon3:c.T45A:p.H15Q,ZNF302:NM_001289188:exon3:c.T45A:p.H15Q,ZNF302:NM_001289189:exon3:c.T45A:p.H15Q,ZNF302:NM_001289190:exon3:c.T45A:p.H15Q,ZNF302:NM_001289191:exon3:c.T45A:p.H15Q,ZNF302:NM_001289192:exon3:c.T45A:p.H15Q,ZNF302:NM_018443:exon3:c.T45A:p.H15Q,ZNF302:NM_018675:exon3:c.T45A:p.H15Q,ZNF302:NM_001289181:exon4:c.T177A:p.H59Q",T,.,N,T,N,T
chr19,55106288,55106288,A,C,P176723_F,LILRA1,Missense_Mutation,NM_001278319,exon3,c.A229C,p.I77L,SNP,SNVindel,exonic,LILRA1,NA,nonsynonymous SNV,"LILRA1:NM_001278319:exon3:c.A229C:p.I77L,LILRA1:NM_001278318:exon4:c.A229C:p.I77L,LILRA1:NM_006863:exon4:c.A229C:p.I77L",T,N,N,T,N,T
chr20,44640909,44640909,G,A,P176723_F,MMP9,Silent,NM_004994,exon7,c.G1131A,p.S377S,SNP,SNVindel,exonic,MMP9,NA,synonymous SNV,MMP9:NM_004994:exon7:c.G1131A:p.S377S,NA,NA,NA,NA,NA,NA
chr3,130287403,130287403,C,T,P176723_S,COL6A6,Missense_Mutation,NM_001102608,exon5,c.C2356T,p.R786C,SNP,SNVindel,exonic,COL6A6,NA,nonsynonymous SNV,COL6A6:NM_001102608:exon5:c.C2356T:p.R786C,T,N,N,D,N,T
chr4,76695831,76695831,C,T,P176723_S,USO1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,USO1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,77961357,77961357,G,A,P176723_S,GAB2,Missense_Mutation,NM_012296,exon3,c.C352T,p.R118C,SNP,SNVindel,exonic,GAB2,NA,nonsynonymous SNV,"GAB2:NM_012296:exon3:c.C352T:p.R118C,GAB2:NM_080491:exon3:c.C466T:p.R156C",D,U,D,T,N,T
chr16,77353759,77353759,G,A,P176723_S,ADAMTS18,Missense_Mutation,NM_001326358,exon16,c.C2003T,p.T668M,SNP,SNVindel,exonic,ADAMTS18,NA,nonsynonymous SNV,"ADAMTS18:NM_001326358:exon16:c.C2003T:p.T668M,ADAMTS18:NM_199355:exon16:c.C2519T:p.T840M",D,D,D,T,D,T
chr22,31286876,31286876,C,T,P176723_S,OSBP2,Silent,NM_001282742,exon6,c.C417T,p.I139I,SNP,SNVindel,exonic,OSBP2,NA,synonymous SNV,"OSBP2:NM_001282742:exon6:c.C417T:p.I139I,OSBP2:NM_001282740:exon7:c.C684T:p.I228I,OSBP2:NM_001282741:exon7:c.C1011T:p.I337I,OSBP2:NM_001282739:exon8:c.C1782T:p.I594I,OSBP2:NM_030758:exon8:c.C1785T:p.I595I,OSBP2:NM_001282738:exon9:c.C1287T:p.I429I",NA,NA,NA,NA,NA,NA
chrX,70782798,70782798,C,T,P176723_S,OGT,Silent,NM_181672,exon16,c.C2079T,p.S693S,SNP,SNVindel,exonic,OGT,NA,synonymous SNV,"OGT:NM_181672:exon16:c.C2079T:p.S693S,OGT:NM_181673:exon16:c.C2049T:p.S683S",NA,NA,NA,NA,NA,NA
chrX,107304722,107304722,C,T,P176723_S,VSIG1,Missense_Mutation,NM_001170553,exon3,c.C278T,p.T93M,SNP,SNVindel,exonic,VSIG1,NA,nonsynonymous SNV,VSIG1:NM_001170553:exon3:c.C278T:p.T93M,T,.,N,T,N,T
chr10,72358324,72358324,G,A,P176723_S,PRF1,Missense_Mutation,NM_001083116,exon3,c.C1153T,p.R385W,SNP,SNVindel,exonic,PRF1,NA,nonsynonymous SNV,"PRF1:NM_001083116:exon3:c.C1153T:p.R385W,PRF1:NM_005041:exon3:c.C1153T:p.R385W",D,N,N,D,N,T
chr11,56185215,56185215,C,T,P176723_S,OR5R1,Missense_Mutation,NM_001004744,exon1,c.G494A,p.R165H,SNP,SNVindel,exonic,OR5R1,NA,nonsynonymous SNV,OR5R1:NM_001004744:exon1:c.G494A:p.R165H,T,.,N,T,N,T
chr16,2506732,2506732,G,A,P176723_S,CCNF,Missense_Mutation,NM_001323538,exon16,c.G1148A,p.R383Q,SNP,SNVindel,exonic,CCNF,NA,nonsynonymous SNV,"CCNF:NM_001323538:exon16:c.G1148A:p.R383Q,CCNF:NM_001761:exon17:c.G2072A:p.R691Q",T,N,N,T,N,T
chr17,39296318,39296318,C,T,P176723_S,KRTAP4-6,Missense_Mutation,NM_030976,exon1,c.G422A,p.R141H,SNP,SNVindel,exonic,KRTAP4-6,NA,nonsynonymous SNV,KRTAP4-6:NM_030976:exon1:c.G422A:p.R141H,T,U,N,T,D,T
chr17,76567034,76567034,G,A,P176723_S,DNAH17,Missense_Mutation,NM_173628,exon6,c.C914T,p.T305M,SNP,SNVindel,exonic,DNAH17,NA,nonsynonymous SNV,DNAH17:NM_173628:exon6:c.C914T:p.T305M,D,U,N,T,N,T
chr7,53103789,53103789,C,T,P176723_S,POM121L12,Missense_Mutation,NM_182595,exon1,c.C425T,p.A142V,SNP,SNVindel,exonic,POM121L12,NA,nonsynonymous SNV,POM121L12:NM_182595:exon1:c.C425T:p.A142V,D,.,N,T,D,T
chr11,51411931,51411931,C,T,P176723_S,OR4A5,Silent,NM_001005272,exon1,c.G465A,p.A155A,SNP,SNVindel,exonic,OR4A5,NA,synonymous SNV,OR4A5:NM_001005272:exon1:c.G465A:p.A155A,NA,NA,NA,NA,NA,NA
chr11,63585590,63585590,G,A,P176723_S,SPINDOC,Silent,NM_138471,exon2,c.G441A,p.P147P,SNP,SNVindel,exonic,SPINDOC,NA,synonymous SNV,SPINDOC:NM_138471:exon2:c.G441A:p.P147P,NA,NA,NA,NA,NA,NA
chr17,26900862,26900862,G,A,P176723_S,ALDOC,Missense_Mutation,NM_005165,exon8,c.C890T,p.A297V,SNP,SNVindel,exonic,ALDOC,NA,nonsynonymous SNV,ALDOC:NM_005165:exon8:c.C890T:p.A297V,D,D,D,D,N,D
chr17,71334847,71334847,C,T,P176723_S,SDK2,Missense_Mutation,NM_001144952,exon45,c.G6398A,p.R2133Q,SNP,SNVindel,exonic,SDK2,NA,nonsynonymous SNV,SDK2:NM_001144952:exon45:c.G6398A:p.R2133Q,D,D,D,T,N,T
chr20,31652621,31652621,C,T,P176723_S,BPIFB3,Silent,NM_182658,exon8,c.C894T,p.G298G,SNP,SNVindel,exonic,BPIFB3,NA,synonymous SNV,BPIFB3:NM_182658:exon8:c.C894T:p.G298G,NA,NA,NA,NA,NA,NA
chr6,75862112,75862112,C,T,P176723_S,COL12A1,Missense_Mutation,NM_080645,exon3,c.G160A,p.V54M,SNP,SNVindel,exonic,COL12A1,NA,nonsynonymous SNV,"COL12A1:NM_080645:exon3:c.G160A:p.V54M,COL12A1:NM_004370:exon18:c.G3652A:p.V1218M",D,D,D,D,N,T
chr8,145057659,145057659,C,G,P176723_S,PARP10,Missense_Mutation,NM_001317895,exon7,c.G2134C,p.D712H,SNP,SNVindel,exonic,PARP10,NA,nonsynonymous SNV,"PARP10:NM_001317895:exon7:c.G2134C:p.D712H,PARP10:NM_032789:exon8:c.G2098C:p.D700H",D,N,N,T,N,T
chr15,98995202,98995202,C,A,P176723_S,FAM169B,Silent,NM_182562,exon5,c.G222T,p.L74L,SNP,SNVindel,exonic,FAM169B,NA,synonymous SNV,FAM169B:NM_182562:exon5:c.G222T:p.L74L,NA,NA,NA,NA,NA,NA
chr22,43950819,43950819,G,A,P176723_S,EFCAB6,Missense_Mutation,NM_198856,exon25,c.C3122T,p.T1041M,SNP,SNVindel,exonic,EFCAB6,NA,nonsynonymous SNV,"EFCAB6:NM_198856:exon25:c.C3122T:p.T1041M,EFCAB6:NM_022785:exon27:c.C3578T:p.T1193M",D,N,N,T,N,T
chr1,36227601,36227601,C,T,P176723_S,CLSPN,Missense_Mutation,NM_001190481,exon6,c.G893A,p.R298Q,SNP,SNVindel,exonic,CLSPN,NA,nonsynonymous SNV,"CLSPN:NM_001190481:exon6:c.G893A:p.R298Q,CLSPN:NM_001330490:exon6:c.G893A:p.R298Q,CLSPN:NM_022111:exon6:c.G893A:p.R298Q",D,D,D,T,D,T
chr8,27528620,27528620,A,C,P176723_S,SCARA3,Missense_Mutation,NM_016240,exon6,c.A1573C,p.K525Q,SNP,SNVindel,exonic,SCARA3,NA,nonsynonymous SNV,SCARA3:NM_016240:exon6:c.A1573C:p.K525Q,D,D,D,D,N,D
chr19,57333112,57333112,C,T,P176723_S,PEG3,Silent,NM_001146184,exon6,c.G576A,p.P192P,SNP,SNVindel,exonic,PEG3;ZIM2,NA,synonymous SNV,"PEG3:NM_001146184:exon6:c.G576A:p.P192P,PEG3:NM_001146185:exon6:c.G198A:p.P66P,PEG3:NM_001146187:exon6:c.G201A:p.P67P,PEG3:NM_001369717:exon6:c.G579A:p.P193P,PEG3:NM_001369721:exon6:c.G201A:p.P67P,PEG3:NM_001369725:exon6:c.G201A:p.P67P,PEG3:NM_001369733:exon6:c.G201A:p.P67P,PEG3:NM_001369735:exon6:c.G201A:p.P67P,PEG3:NM_001369736:exon6:c.G201A:p.P67P,ZIM2:NM_001369772:exon6:c.G201A:p.P67P,ZIM2:NM_001369773:exon6:c.G201A:p.P67P,ZIM2:NM_001369774:exon6:c.G201A:p.P67P,ZIM2:NM_015363:exon6:c.G201A:p.P67P,ZIM2:NM_001146326:exon7:c.G201A:p.P67P,ZIM2:NM_001146327:exon7:c.G201A:p.P67P,PEG3:NM_001369718:exon7:c.G579A:p.P193P,PEG3:NM_001369719:exon7:c.G579A:p.P193P,PEG3:NM_001369722:exon7:c.G201A:p.P67P,PEG3:NM_001369727:exon7:c.G201A:p.P67P,PEG3:NM_001369729:exon7:c.G201A:p.P67P,PEG3:NM_001369730:exon7:c.G201A:p.P67P,PEG3:NM_001369732:exon7:c.G201A:p.P67P,PEG3:NM_001369734:exon7:c.G201A:p.P67P,PEG3:NM_001369737:exon7:c.G201A:p.P67P,PEG3:NM_001369739:exon7:c.G201A:p.P67P,ZIM2:NM_001369770:exon7:c.G201A:p.P67P,ZIM2:NM_001369771:exon7:c.G201A:p.P67P,PEG3:NM_006210:exon7:c.G576A:p.P192P,PEG3:NM_001369723:exon8:c.G201A:p.P67P,PEG3:NM_001369726:exon8:c.G201A:p.P67P,PEG3:NM_001369728:exon8:c.G201A:p.P67P,PEG3:NM_001369731:exon8:c.G201A:p.P67P,PEG3:NM_001369738:exon8:c.G201A:p.P67P,PEG3:NM_001369720:exon9:c.G201A:p.P67P,PEG3:NM_001369724:exon9:c.G201A:p.P67P",NA,NA,NA,NA,NA,NA
chr7,142459834,142459834,C,T,P176723_S,PRSS1,Missense_Mutation,NM_002769,exon3,c.C410T,p.T137M,SNP,SNVindel,exonic,PRSS1,NA,nonsynonymous SNV,PRSS1:NM_002769:exon3:c.C410T:p.T137M,D,D,D,D,D,D
chr9,35108261,35108261,A,T,P176723_S,FAM214B,Missense_Mutation,NM_001317991,exon3,c.T11A,p.V4E,SNP,SNVindel,exonic,FAM214B,NA,nonsynonymous SNV,"FAM214B:NM_001317991:exon3:c.T11A:p.V4E,FAM214B:NM_025182:exon3:c.T11A:p.V4E",D,D,D,.,N,T
chr1,228461504,228461504,G,A,P176723_S,OBSCN,Missense_Mutation,NM_001098623,exon18,c.G5171A,p.R1724H,SNP,SNVindel,exonic,OBSCN,NA,nonsynonymous SNV,"OBSCN:NM_001098623:exon18:c.G5171A:p.R1724H,OBSCN:NM_052843:exon18:c.G5171A:p.R1724H,OBSCN:NM_001271223:exon22:c.G6296A:p.R2099H",T,N,N,T,N,T
chr3,130346196,130346196,G,A,P176723_S,COL6A6,Missense_Mutation,NM_001102608,exon25,c.G4975A,p.G1659R,SNP,SNVindel,exonic,COL6A6,NA,nonsynonymous SNV,COL6A6:NM_001102608:exon25:c.G4975A:p.G1659R,D,.,N,D,D,D
chr9,123886324,123886324,C,T,P176723_S,CNTRL,Missense_Mutation,NM_001330762,exon2,c.C110T,p.T37M,SNP,SNVindel,exonic,CNTRL,NA,nonsynonymous SNV,"CNTRL:NM_001330762:exon2:c.C110T:p.T37M,CNTRL:NM_001369892:exon2:c.C110T:p.T37M,CNTRL:NM_007018:exon11:c.C1766T:p.T589M,CNTRL:NM_001369893:exon12:c.C1766T:p.T589M,CNTRL:NM_001369895:exon12:c.C1265T:p.T422M,CNTRL:NM_001369894:exon13:c.C1823T:p.T608M",T,.,D,T,N,T
chr19,9083317,9083317,G,T,P176723_S,MUC16,Missense_Mutation,NM_024690,exon1,c.C8498A,p.T2833N,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.C8498A:p.T2833N,D,.,N,T,N,T
chr1,34112263,34112263,C,T,P176723_S,CSMD2,Missense_Mutation,NM_001281956,exon29,c.G4759A,p.V1587I,SNP,SNVindel,exonic,CSMD2,NA,nonsynonymous SNV,"CSMD2:NM_001281956:exon29:c.G4759A:p.V1587I,CSMD2:NM_052896:exon29:c.G4639A:p.V1547I",T,D,D,T,N,T
chr11,16872807,16872807,G,C,P176723_S,PLEKHA7,Missense_Mutation,NM_001329630,exon8,c.C627G,p.I209M,SNP,SNVindel,exonic,PLEKHA7,NA,nonsynonymous SNV,"PLEKHA7:NM_001329630:exon8:c.C627G:p.I209M,PLEKHA7:NM_001329631:exon8:c.C627G:p.I209M,PLEKHA7:NM_175058:exon8:c.C627G:p.I209M",D,D,D,D,N,D
chr5,140625340,140625340,G,A,P176723_S,PCDHB15,Missense_Mutation,NM_018935,exon1,c.G194A,p.R65Q,SNP,SNVindel,exonic,PCDHB15,NA,nonsynonymous SNV,PCDHB15:NM_018935:exon1:c.G194A:p.R65Q,T,.,N,T,D,T
chr15,25959224,25959224,G,A,P176723_S,ATP10A,Silent,NM_024490,exon10,c.C1941T,p.S647S,SNP,SNVindel,exonic,ATP10A,NA,synonymous SNV,ATP10A:NM_024490:exon10:c.C1941T:p.S647S,NA,NA,NA,NA,NA,NA
chr20,36766724,36766724,T,C,P176723_S,TGM2,Missense_Mutation,NM_001323317,exon9,c.A1163G,p.E388G,SNP,SNVindel,exonic,TGM2,NA,nonsynonymous SNV,"TGM2:NM_001323317:exon9:c.A1163G:p.E388G,TGM2:NM_001323318:exon9:c.A1226G:p.E409G,TGM2:NM_004613:exon10:c.A1406G:p.E469G,TGM2:NM_198951:exon10:c.A1406G:p.E469G,TGM2:NM_001323316:exon11:c.A1406G:p.E469G",T,N,N,T,N,T
chr2,227886828,227886828,C,T,P176723_S,COL4A4,Silent,NM_000092,exon44,c.G4152A,p.A1384A,SNP,SNVindel,exonic,COL4A4,NA,synonymous SNV,COL4A4:NM_000092:exon44:c.G4152A:p.A1384A,NA,NA,NA,NA,NA,NA
chr6,80626571,80626571,C,T,P176723_S,ELOVL4,Silent,NM_022726,exon6,c.G699A,p.T233T,SNP,SNVindel,exonic,ELOVL4,NA,synonymous SNV,ELOVL4:NM_022726:exon6:c.G699A:p.T233T,NA,NA,NA,NA,NA,NA
chr11,68343436,68343436,C,T,P176723_S,PPP6R3,Silent,NM_001352353,exon12,c.C984T,p.D328D,SNP,SNVindel,exonic,PPP6R3,NA,synonymous SNV,"PPP6R3:NM_001352353:exon12:c.C984T:p.D328D,PPP6R3:NM_001352347:exon13:c.C795T:p.D265D,PPP6R3:NM_001352351:exon13:c.C1197T:p.D399D,PPP6R3:NM_001352355:exon13:c.C1197T:p.D399D,PPP6R3:NM_001352358:exon13:c.C1317T:p.D439D,PPP6R3:NM_001352359:exon13:c.C1197T:p.D399D,PPP6R3:NM_001352361:exon13:c.C1197T:p.D399D,PPP6R3:NM_001352370:exon13:c.C1197T:p.D399D,PPP6R3:NM_001352374:exon13:c.C1197T:p.D399D,PPP6R3:NM_001164160:exon14:c.C1470T:p.D490D,PPP6R3:NM_001164161:exon14:c.C1470T:p.D490D,PPP6R3:NM_001164162:exon14:c.C1470T:p.D490D,PPP6R3:NM_001164163:exon14:c.C1470T:p.D490D,PPP6R3:NM_001164164:exon14:c.C1317T:p.D439D,PPP6R3:NM_001352350:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352352:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352356:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352357:exon14:c.C795T:p.D265D,PPP6R3:NM_001352365:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352366:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352369:exon14:c.C795T:p.D265D,PPP6R3:NM_001352373:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352377:exon14:c.C1470T:p.D490D,PPP6R3:NM_001352378:exon14:c.C1197T:p.D399D,PPP6R3:NM_018312:exon14:c.C1317T:p.D439D,PPP6R3:NM_001352348:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352354:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352360:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352362:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352363:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352364:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352368:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352371:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352372:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352375:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352376:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352380:exon15:c.C1470T:p.D490D,PPP6R3:NM_001352379:exon16:c.C1470T:p.D490D",NA,NA,NA,NA,NA,NA
chr1,17318282,17318282,G,A,P176723_S,ATP13A2,Missense_Mutation,NM_001141973,exon20,c.C2183T,p.T728M,SNP,SNVindel,exonic,ATP13A2,NA,nonsynonymous SNV,"ATP13A2:NM_001141973:exon20:c.C2183T:p.T728M,ATP13A2:NM_001141974:exon20:c.C2183T:p.T728M,ATP13A2:NM_022089:exon20:c.C2198T:p.T733M",D,N,N,T,D,T
chr13,114525022,114525022,G,A,P176723_S,GAS6,Silent,NM_000820,exon14,c.C1791T,p.S597S,SNP,SNVindel,exonic,GAS6,NA,synonymous SNV,GAS6:NM_000820:exon14:c.C1791T:p.S597S,NA,NA,NA,NA,NA,NA
chr17,7979002,7979002,G,A,P176723_S,ALOX12B,Missense_Mutation,NM_001139,exon12,c.C1565T,p.P522L,SNP,SNVindel,exonic,ALOX12B,NA,nonsynonymous SNV,ALOX12B:NM_001139:exon12:c.C1565T:p.P522L,D,N,N,D,D,T
chr1,11576065,11576065,C,T,P176723_S,DISP3,Silent,NM_020780,exon6,c.C1596T,p.D532D,SNP,SNVindel,exonic,DISP3,NA,synonymous SNV,DISP3:NM_020780:exon6:c.C1596T:p.D532D,NA,NA,NA,NA,NA,NA
chr22,24919647,24919647,G,A,P176723_S,UPB1,Missense_Mutation,NM_016327,exon9,c.G977A,p.R326Q,SNP,SNVindel,exonic,UPB1,NA,nonsynonymous SNV,UPB1:NM_016327:exon9:c.G977A:p.R326Q,T,D,D,D,D,D
chr4,71472089,71472089,C,T,P176723_S,AMBN,Missense_Mutation,NM_016519,exon13,c.C986T,p.P329L,SNP,SNVindel,exonic,AMBN,NA,nonsynonymous SNV,AMBN:NM_016519:exon13:c.C986T:p.P329L,D,N,N,T,D,T
chr6,24448111,24448111,C,T,P176723_S,GPLD1,Missense_Mutation,NM_001503,exon17,c.G1672A,p.D558N,SNP,SNVindel,exonic,GPLD1,NA,nonsynonymous SNV,GPLD1:NM_001503:exon17:c.G1672A:p.D558N,T,N,N,T,N,T
chr12,51754613,51754613,C,T,P176723_S,GALNT6,Silent,NM_007210,exon7,c.G1059A,p.T353T,SNP,SNVindel,exonic,GALNT6,NA,synonymous SNV,GALNT6:NM_007210:exon7:c.G1059A:p.T353T,NA,NA,NA,NA,NA,NA
chr6,38754694,38754694,A,G,P176723_S,DNAH8,Missense_Mutation,NM_001371,exon17,c.A1898G,p.E633G,SNP,SNVindel,exonic,DNAH8,NA,nonsynonymous SNV,"DNAH8:NM_001371:exon17:c.A1898G:p.E633G,DNAH8:NM_001206927:exon18:c.A2549G:p.E850G",T,D,D,T,D,T
chr19,15465960,15465960,G,A,P176723_S,AKAP8,Silent,NM_005858,exon14,c.C1845T,p.A615A,SNP,SNVindel,exonic,AKAP8,NA,synonymous SNV,AKAP8:NM_005858:exon14:c.C1845T:p.A615A,NA,NA,NA,NA,NA,NA
chr6,123101544,123101544,C,T,P176723_S,FABP7,Missense_Mutation,NM_001319039,exon2,c.C182T,p.T61M,SNP,SNVindel,exonic,FABP7,NA,nonsynonymous SNV,"FABP7:NM_001319039:exon2:c.C182T:p.T61M,FABP7:NM_001319041:exon2:c.C182T:p.T61M,FABP7:NM_001319042:exon2:c.C170T:p.T57M,FABP7:NM_001446:exon2:c.C182T:p.T61M",D,D,D,T,D,T
chr9,19345978,19345978,G,A,P176723_S,DENND4C,Missense_Mutation,NM_017925,exon22,c.G3064A,p.E1022K,SNP,SNVindel,exonic,DENND4C,NA,nonsynonymous SNV,"DENND4C:NM_017925:exon22:c.G3064A:p.E1022K,DENND4C:NM_001330640:exon23:c.G3211A:p.E1071K",.,N,N,T,.,T
chr9,139008606,139008606,C,T,P176723_S,TMEM250,Silent,NM_001256526,exon2,c.G141A,p.T47T,SNP,SNVindel,exonic,TMEM250,NA,synonymous SNV,"TMEM250:NM_001256526:exon2:c.G141A:p.T47T,TMEM250:NM_152833:exon2:c.G141A:p.T47T",NA,NA,NA,NA,NA,NA
chr2,178417136,178417136,T,C,P176723_S,TTC30B,Missense_Mutation,NM_152517,exon1,c.A356G,p.Q119R,SNP,SNVindel,exonic,TTC30B,NA,nonsynonymous SNV,TTC30B:NM_152517:exon1:c.A356G:p.Q119R,T,D,D,T,D,T
chr1,248605088,248605088,G,A,P176723_S,OR2T7,Missense_Mutation,NM_001355223,exon1,c.G671A,p.C224Y,SNP,SNVindel,exonic,OR2T7,NA,nonsynonymous SNV,OR2T7:NM_001355223:exon1:c.G671A:p.C224Y,.,.,.,.,.,.
chr2,27150238,27150238,G,A,P176723_S,DPYSL5,Missense_Mutation,NM_001253723,exon4,c.G538A,p.A180T,SNP,SNVindel,exonic,DPYSL5,NA,nonsynonymous SNV,"DPYSL5:NM_001253723:exon4:c.G538A:p.A180T,DPYSL5:NM_001253724:exon4:c.G538A:p.A180T,DPYSL5:NM_020134:exon4:c.G538A:p.A180T",T,N,N,D,N,T
chr2,48808302,48808302,G,A,P176723_S,STON1,Missense_Mutation,NM_001198594,exon1,c.G530A,p.R177Q,SNP,SNVindel,exonic,STON1;STON1-GTF2A1L,NA,nonsynonymous SNV,"STON1-GTF2A1L:NM_001198594:exon1:c.G530A:p.R177Q,STON1-GTF2A1L:NM_001198593:exon2:c.G530A:p.R177Q,STON1:NM_006873:exon2:c.G530A:p.R177Q,STON1-GTF2A1L:NM_172311:exon2:c.G530A:p.R177Q,STON1:NM_001198595:exon3:c.G530A:p.R177Q",T,N,N,T,N,T
chr2,220471821,220471821,C,T,P176723_S,STK11IP,Missense_Mutation,NM_052902,exon13,c.C1181T,p.T394M,SNP,SNVindel,exonic,STK11IP,NA,nonsynonymous SNV,STK11IP:NM_052902:exon13:c.C1181T:p.T394M,D,D,D,T,D,T
chr2,238280668,238280668,C,T,P176723_S,COL6A3,Missense_Mutation,NM_057166,exon6,c.G2171A,p.R724H,SNP,SNVindel,exonic,COL6A3,NA,nonsynonymous SNV,"COL6A3:NM_057166:exon6:c.G2171A:p.R724H,COL6A3:NM_057164:exon7:c.G2771A:p.R924H,COL6A3:NM_057165:exon8:c.G3374A:p.R1125H,COL6A3:NM_057167:exon8:c.G3374A:p.R1125H,COL6A3:NM_004369:exon9:c.G3992A:p.R1331H",D,D,D,T,D,D
chr3,44598729,44598729,G,A,P176723_S,ZKSCAN7,Missense_Mutation,NM_001288590,exon2,c.G190A,p.E64K,SNP,SNVindel,exonic,ZKSCAN7,NA,nonsynonymous SNV,"ZKSCAN7:NM_001288590:exon2:c.G190A:p.E64K,ZKSCAN7:NM_001288591:exon2:c.G190A:p.E64K,ZKSCAN7:NM_018651:exon2:c.G190A:p.E64K,ZKSCAN7:NM_025169:exon2:c.G190A:p.E64K",D,N,D,T,D,T
chr5,38489298,38489298,C,T,P176723_S,LIFR,Silent,NM_001127671,exon16,c.G2217A,p.S739S,SNP,SNVindel,exonic,LIFR,NA,synonymous SNV,"LIFR:NM_001127671:exon16:c.G2217A:p.S739S,LIFR:NM_001364297:exon16:c.G2217A:p.S739S,LIFR:NM_001364298:exon16:c.G2217A:p.S739S,LIFR:NM_002310:exon16:c.G2217A:p.S739S",NA,NA,NA,NA,NA,NA
chr5,140207965,140207965,G,C,P176723_S,PCDHA6,Missense_Mutation,NM_018909,exon1,c.G289C,p.G97R,SNP,SNVindel,exonic,PCDHA6,NA,nonsynonymous SNV,"PCDHA6:NM_018909:exon1:c.G289C:p.G97R,PCDHA6:NM_031848:exon1:c.G289C:p.G97R,PCDHA6:NM_031849:exon1:c.G289C:p.G97R",T,U,D,T,D,T
chr5,140214974,140214974,G,C,P176723_S,PCDHA7,Missense_Mutation,NM_018910,exon1,c.G1006C,p.V336L,SNP,SNVindel,exonic,PCDHA7,NA,nonsynonymous SNV,"PCDHA7:NM_018910:exon1:c.G1006C:p.V336L,PCDHA7:NM_031852:exon1:c.G1006C:p.V336L",T,U,N,T,N,T
chr5,140236983,140236983,C,T,P176723_S,PCDHA10,Silent,NM_018901,exon1,c.C1350T,p.N450N,SNP,SNVindel,exonic,PCDHA10,NA,synonymous SNV,"PCDHA10:NM_018901:exon1:c.C1350T:p.N450N,PCDHA10:NM_031859:exon1:c.C1350T:p.N450N,PCDHA10:NM_031860:exon1:c.C1350T:p.N450N",NA,NA,NA,NA,NA,NA
chr7,55211080,55211080,G,A,P176723_S,EGFR,Missense_Mutation,NM_001346897,exon3,c.G323A,p.R108K,SNP,SNVindel,exonic,EGFR,NA,nonsynonymous SNV,"EGFR:NM_001346897:exon3:c.G323A:p.R108K,EGFR:NM_001346898:exon3:c.G323A:p.R108K,EGFR:NM_001346899:exon3:c.G323A:p.R108K,EGFR:NM_001346900:exon3:c.G164A:p.R55K,EGFR:NM_005228:exon3:c.G323A:p.R108K,EGFR:NM_201282:exon3:c.G323A:p.R108K,EGFR:NM_201283:exon3:c.G323A:p.R108K,EGFR:NM_201284:exon3:c.G323A:p.R108K",D,D,D,T,N,D
chr7,142655011,142655011,C,T,P176723_S,KEL,Missense_Mutation,NM_000420,exon6,c.G575A,p.R192Q,SNP,SNVindel,exonic,KEL,NA,nonsynonymous SNV,KEL:NM_000420:exon6:c.G575A:p.R192Q,T,N,N,T,N,T
chr7,157449064,157449064,G,A,P176723_S,PTPRN2,Silent,NM_001308267,exon13,c.C2067T,p.T689T,SNP,SNVindel,exonic,PTPRN2,NA,synonymous SNV,"PTPRN2:NM_001308267:exon13:c.C2067T:p.T689T,PTPRN2:NM_130842:exon13:c.C2130T:p.T710T,PTPRN2:NM_130843:exon13:c.C2094T:p.T698T,PTPRN2:NM_001308268:exon14:c.C2250T:p.T750T,PTPRN2:NM_002847:exon14:c.C2181T:p.T727T",NA,NA,NA,NA,NA,NA
chr9,43853546,43853546,C,T,P176723_S,CNTNAP3B,Silent,NM_001201380,exon12,c.C1806T,p.S602S,SNP,SNVindel,exonic,CNTNAP3B,NA,synonymous SNV,CNTNAP3B:NM_001201380:exon12:c.C1806T:p.S602S,NA,NA,NA,NA,NA,NA
chr9,139944736,139944736,C,G,P176723_S,ENTPD2,Silent,NM_001246,exon6,c.G1029C,p.V343V,SNP,SNVindel,exonic,ENTPD2,NA,synonymous SNV,"ENTPD2:NM_001246:exon6:c.G1029C:p.V343V,ENTPD2:NM_203468:exon6:c.G1029C:p.V343V",NA,NA,NA,NA,NA,NA
chr10,84118524,84118524,G,A,P176723_S,NRG3,Missense_Mutation,NM_001010848,exon2,c.G853A,p.E285K,SNP,SNVindel,exonic,NRG3,NA,nonsynonymous SNV,"NRG3:NM_001010848:exon2:c.G853A:p.E285K,NRG3:NM_001165972:exon2:c.G853A:p.E285K,NRG3:NM_001370081:exon2:c.G853A:p.E285K,NRG3:NM_001370083:exon2:c.G853A:p.E285K,NRG3:NM_001370084:exon2:c.G853A:p.E285K,NRG3:NM_001165973:exon3:c.G190A:p.E64K,NRG3:NM_001370082:exon4:c.G286A:p.E96K",D,D,D,T,N,T
chr11,126074167,126074167,C,T,P176723_S,RPUSD4,Missense_Mutation,NM_001144827,exon6,c.G760A,p.G254S,SNP,SNVindel,exonic,RPUSD4,NA,nonsynonymous SNV,"RPUSD4:NM_001144827:exon6:c.G760A:p.G254S,RPUSD4:NM_001363516:exon6:c.G853A:p.G285S,RPUSD4:NM_032795:exon6:c.G853A:p.G285S",D,D,D,T,D,T
chr12,56994088,56994088,G,A,P176723_S,BAZ2A,Missense_Mutation,NM_001300905,exon24,c.C4789T,p.R1597W,SNP,SNVindel,exonic,BAZ2A,NA,nonsynonymous SNV,"BAZ2A:NM_001300905:exon24:c.C4789T:p.R1597W,BAZ2A:NM_013449:exon24:c.C4795T:p.R1599W,BAZ2A:NM_001351156:exon26:c.C4699T:p.R1567W",D,D,D,D,D,D
chr14,24429180,24429180,A,C,P176723_S,DHRS4,Missense_Mutation,NM_001282987,exon3,c.A376C,p.I126L,SNP,SNVindel,exonic,DHRS4,NA,nonsynonymous SNV,"DHRS4:NM_001282987:exon3:c.A376C:p.I126L,DHRS4:NM_001282989:exon3:c.A376C:p.I126L,DHRS4:NM_021004:exon3:c.A376C:p.I126L",T,N,N,T,N,T
chr15,91524890,91524890,G,A,P176723_S,PRC1,Missense_Mutation,NM_001267580,exon4,c.C388T,p.R130C,SNP,SNVindel,exonic,PRC1,NA,nonsynonymous SNV,"PRC1:NM_001267580:exon4:c.C388T:p.R130C,PRC1:NM_003981:exon5:c.C511T:p.R171C,PRC1:NM_199413:exon5:c.C511T:p.R171C",D,N,D,T,N,T
chr17,72339240,72339240,C,T,P176723_S,KIF19,Missense_Mutation,NM_153209,exon5,c.C397T,p.R133C,SNP,SNVindel,exonic,KIF19,NA,nonsynonymous SNV,KIF19:NM_153209:exon5:c.C397T:p.R133C,D,.,D,T,D,T
chr19,17611569,17611569,G,A,P176723_S,SLC27A1,Missense_Mutation,NM_198580,exon10,c.G1520A,p.R507H,SNP,SNVindel,exonic,SLC27A1,NA,nonsynonymous SNV,SLC27A1:NM_198580:exon10:c.G1520A:p.R507H,D,D,D,D,D,D
chr19,35173717,35173717,T,A,P176723_S,ZNF302,Missense_Mutation,NM_001012320,exon3,c.T45A,p.H15Q,SNP,SNVindel,exonic,ZNF302,NA,nonsynonymous SNV,"ZNF302:NM_001012320:exon3:c.T45A:p.H15Q,ZNF302:NM_001289182:exon3:c.T45A:p.H15Q,ZNF302:NM_001289183:exon3:c.T45A:p.H15Q,ZNF302:NM_001289184:exon3:c.T45A:p.H15Q,ZNF302:NM_001289185:exon3:c.T45A:p.H15Q,ZNF302:NM_001289186:exon3:c.T45A:p.H15Q,ZNF302:NM_001289187:exon3:c.T45A:p.H15Q,ZNF302:NM_001289188:exon3:c.T45A:p.H15Q,ZNF302:NM_001289189:exon3:c.T45A:p.H15Q,ZNF302:NM_001289190:exon3:c.T45A:p.H15Q,ZNF302:NM_001289191:exon3:c.T45A:p.H15Q,ZNF302:NM_001289192:exon3:c.T45A:p.H15Q,ZNF302:NM_018443:exon3:c.T45A:p.H15Q,ZNF302:NM_018675:exon3:c.T45A:p.H15Q,ZNF302:NM_001289181:exon4:c.T177A:p.H59Q",T,.,N,T,N,T
chr20,44640909,44640909,G,A,P176723_S,MMP9,Silent,NM_004994,exon7,c.G1131A,p.S377S,SNP,SNVindel,exonic,MMP9,NA,synonymous SNV,MMP9:NM_004994:exon7:c.G1131A:p.S377S,NA,NA,NA,NA,NA,NA
chrX,5811015,5811015,C,T,P176723_S,NLGN4X,Missense_Mutation,NM_001282146,exon6,c.G2294A,p.R765H,SNP,SNVindel,exonic,NLGN4X,NA,nonsynonymous SNV,"NLGN4X:NM_001282146:exon6:c.G2294A:p.R765H,NLGN4X:NM_020742:exon6:c.G2294A:p.R765H,NLGN4X:NM_181332:exon6:c.G2294A:p.R765H,NLGN4X:NM_001282145:exon7:c.G2294A:p.R765H",D,N,D,T,D,T
chr1,52704290,52704290,A,G,P197462_F,ZFYVE9,Missense_Mutation,NM_004799,exon4,c.A1201G,p.N401D,SNP,SNVindel,exonic,ZFYVE9,NA,nonsynonymous SNV,"ZFYVE9:NM_004799:exon4:c.A1201G:p.N401D,ZFYVE9:NM_007324:exon4:c.A1201G:p.N401D",D,N,N,T,N,T
chr8,37692733,37692733,G,A,P197462_F,ADGRA2,Silent,NM_032777,exon12,c.G1650A,p.P550P,SNP,SNVindel,exonic,ADGRA2,NA,synonymous SNV,ADGRA2:NM_032777:exon12:c.G1650A:p.P550P,NA,NA,NA,NA,NA,NA
chr8,143846550,143846550,C,T,P197462_F,LYNX1-SLURP2,Missense_Mutation,NM_001356372,exon2,c.G61A,p.E21K,SNP,SNVindel,exonic,LYNX1-SLURP2;SLURP2,NA,nonsynonymous SNV,"SLURP2:NM_001356372:exon2:c.G61A:p.E21K,SLURP2:NM_177458:exon2:c.G61A:p.E21K,LYNX1-SLURP2:NM_023946:exon4:c.G163A:p.E55K",T,.,N,T,N,T
chr12,4737649,4737649,C,T,P197462_F,AKAP3,Missense_Mutation,NM_001278309,exon5,c.G419A,p.R140H,SNP,SNVindel,exonic,AKAP3,NA,nonsynonymous SNV,"AKAP3:NM_001278309:exon5:c.G419A:p.R140H,AKAP3:NM_006422:exon5:c.G419A:p.R140H",T,D,D,T,N,T
chr14,20851719,20851719,G,A,P197462_F,TEP1,Silent,NM_001319035,exon24,c.C3471T,p.I1157I,SNP,SNVindel,exonic,TEP1,NA,synonymous SNV,"TEP1:NM_001319035:exon24:c.C3471T:p.I1157I,TEP1:NM_007110:exon26:c.C3795T:p.I1265I",NA,NA,NA,NA,NA,NA
chr17,11725797,11725797,C,T,P197462_F,DNAH9,Missense_Mutation,NM_001372,exon47,c.C8893T,p.R2965C,SNP,SNVindel,exonic,DNAH9,NA,nonsynonymous SNV,DNAH9:NM_001372:exon47:c.C8893T:p.R2965C,D,D,D,T,D,D
chr20,52193350,52193350,C,T,P197462_F,ZNF217,Silent,NM_006526,exon3,c.G1953A,p.P651P,SNP,SNVindel,exonic,ZNF217,NA,synonymous SNV,ZNF217:NM_006526:exon3:c.G1953A:p.P651P,NA,NA,NA,NA,NA,NA
chrX,16696535,16696535,G,A,P197462_F,CTPS2,Silent,NM_001144002,exon10,c.C1044T,p.T348T,SNP,SNVindel,exonic,CTPS2,NA,synonymous SNV,"CTPS2:NM_001144002:exon10:c.C1044T:p.T348T,CTPS2:NM_019857:exon10:c.C1044T:p.T348T,CTPS2:NM_175859:exon10:c.C1044T:p.T348T",NA,NA,NA,NA,NA,NA
chr2,218758179,218758179,C,T,P197462_F,TNS1,Missense_Mutation,NM_001308022,exon7,c.G325A,p.V109I,SNP,SNVindel,exonic,TNS1,NA,nonsynonymous SNV,"TNS1:NM_001308022:exon7:c.G325A:p.V109I,TNS1:NM_001308023:exon7:c.G325A:p.V109I,TNS1:NM_022648:exon8:c.G325A:p.V109I",D,D,D,D,N,D
chr6,138608227,138608227,C,T,P197462_F,ARFGEF3,Silent,NM_020340,exon17,c.C2802T,p.C934C,SNP,SNVindel,exonic,ARFGEF3,NA,synonymous SNV,ARFGEF3:NM_020340:exon17:c.C2802T:p.C934C,NA,NA,NA,NA,NA,NA
chr7,141720869,141720869,C,T,P197462_F,MGAM,Missense_Mutation,NM_001365693,exon5,c.C544T,p.R182C,SNP,SNVindel,exonic,MGAM,NA,nonsynonymous SNV,"MGAM:NM_001365693:exon5:c.C544T:p.R182C,MGAM:NM_004668:exon5:c.C544T:p.R182C",D,D,D,T,D,D
chr12,56092685,56092685,C,T,P197462_F,ITGA7,Silent,NM_001144996,exon6,c.G819A,p.S273S,SNP,SNVindel,exonic,ITGA7,NA,synonymous SNV,"ITGA7:NM_001144996:exon6:c.G819A:p.S273S,ITGA7:NM_001144997:exon6:c.G528A:p.S176S,ITGA7:NM_002206:exon6:c.G807A:p.S269S,ITGA7:NM_001367993:exon7:c.G480A:p.S160S",NA,NA,NA,NA,NA,NA
chr3,183961666,183961666,G,A,P197462_F,ALG3,Missense_Mutation,NM_001006941,exon6,c.C701T,p.A234V,SNP,SNVindel,exonic,ALG3,NA,nonsynonymous SNV,"ALG3:NM_001006941:exon6:c.C701T:p.A234V,ALG3:NM_005787:exon6:c.C845T:p.A282V",T,U,N,D,N,T
chr8,86242031,86242031,G,A,P197462_F,CA1,Missense_Mutation,NM_001291968,exon5,c.C217T,p.L73F,SNP,SNVindel,exonic,CA1,NA,nonsynonymous SNV,"CA1:NM_001291968:exon5:c.C217T:p.L73F,CA1:NM_001164830:exon6:c.C556T:p.L186F,CA1:NM_001291967:exon6:c.C358T:p.L120F,CA1:NM_001128831:exon7:c.C556T:p.L186F,CA1:NM_001128829:exon8:c.C556T:p.L186F,CA1:NM_001128830:exon8:c.C556T:p.L186F,CA1:NM_001738:exon8:c.C556T:p.L186F",T,N,D,T,D,T
chr10,135083961,135083961,C,T,P197462_F,ADAM8,Missense_Mutation,NM_001164490,exon15,c.G1571A,p.R524H,SNP,SNVindel,exonic,ADAM8,NA,nonsynonymous SNV,"ADAM8:NM_001164490:exon15:c.G1571A:p.R524H,ADAM8:NM_001109:exon16:c.G1688A:p.R563H,ADAM8:NM_001164489:exon16:c.G1688A:p.R563H",T,.,N,T,D,.
chr11,40135971,40135971,C,T,P197462_F,LRRC4C,Silent,NM_020929,exon5,c.G1872A,p.P624P,SNP,SNVindel,exonic,LRRC4C,NA,synonymous SNV,"LRRC4C:NM_020929:exon5:c.G1872A:p.P624P,LRRC4C:NM_001258419:exon7:c.G1872A:p.P624P",NA,NA,NA,NA,NA,NA
chr12,89864264,89864264,G,A,P197462_F,POC1B,Silent,NM_001199777,exon6,c.C558T,p.S186S,SNP,SNVindel,exonic,POC1B,NA,synonymous SNV,"POC1B:NM_001199777:exon6:c.C558T:p.S186S,POC1B:NM_172240:exon7:c.C684T:p.S228S",NA,NA,NA,NA,NA,NA
chr15,42374548,42374548,C,T,P197462_F,PLA2G4D,Missense_Mutation,NM_178034,exon9,c.G712A,p.G238R,SNP,SNVindel,exonic,PLA2G4D,NA,nonsynonymous SNV,PLA2G4D:NM_178034:exon9:c.G712A:p.G238R,T,N,N,T,N,T
chr10,16553050,16553050,G,A,P197462_F,PTER,Missense_Mutation,NM_001261838,exon4,c.G398A,p.R133H,SNP,SNVindel,exonic,PTER,NA,nonsynonymous SNV,"PTER:NM_001261838:exon4:c.G398A:p.R133H,PTER:NM_001261836:exon5:c.G845A:p.R282H,PTER:NM_001261837:exon5:c.G704A:p.R235H,PTER:NM_001001484:exon6:c.G845A:p.R282H,PTER:NM_030664:exon6:c.G845A:p.R282H",T,N,D,T,N,T
chr12,31106952,31106952,C,T,P197462_F,TSPAN11,Silent,NM_001080509,exon2,c.C27T,p.D9D,SNP,SNVindel,exonic,TSPAN11,NA,synonymous SNV,"TSPAN11:NM_001080509:exon2:c.C27T:p.D9D,TSPAN11:NM_001370302:exon2:c.C27T:p.D9D",NA,NA,NA,NA,NA,NA
chr20,40730779,40730779,G,A,P197462_F,PTPRT,Silent,NM_007050,exon26,c.C3699T,p.N1233N,SNP,SNVindel,exonic,PTPRT,NA,synonymous SNV,"PTPRT:NM_007050:exon26:c.C3699T:p.N1233N,PTPRT:NM_133170:exon27:c.C3756T:p.N1252N",NA,NA,NA,NA,NA,NA
chr3,119887047,119887047,G,A,P197462_F,GPR156,Missense_Mutation,NM_001168271,exon9,c.C1265T,p.S422L,SNP,SNVindel,exonic,GPR156,NA,nonsynonymous SNV,"GPR156:NM_001168271:exon9:c.C1265T:p.S422L,GPR156:NM_153002:exon9:c.C1277T:p.S426L",T,N,N,T,N,T
chr10,15701045,15701045,T,A,P197462_F,ITGA8,Missense_Mutation,NM_001291494,exon9,c.A856T,p.I286F,SNP,SNVindel,exonic,ITGA8,NA,nonsynonymous SNV,"ITGA8:NM_001291494:exon9:c.A856T:p.I286F,ITGA8:NM_003638:exon10:c.A901T:p.I301F",T,D,D,T,N,T
chr15,84581995,84581995,C,T,P197462_F,ADAMTSL3,Missense_Mutation,NM_001301110,exon16,c.C1852T,p.R618W,SNP,SNVindel,exonic,ADAMTSL3,NA,nonsynonymous SNV,"ADAMTSL3:NM_001301110:exon16:c.C1852T:p.R618W,ADAMTSL3:NM_207517:exon16:c.C1852T:p.R618W",D,D,D,T,D,D
chr17,8273384,8273384,G,A,P197462_F,KRBA2,Nonsense_Mutation,NM_001304947,exon2,c.C301T,p.R101X,SNP,SNVindel,exonic,KRBA2,NA,stopgain,"KRBA2:NM_001304947:exon2:c.C301T:p.R101X,KRBA2:NM_213597:exon2:c.C547T:p.R183X",.,.,D,.,.,.
chr8,75928854,75928854,G,A,P197462_F,CRISPLD1,Missense_Mutation,NM_001286777,exon5,c.G224A,p.R75Q,SNP,SNVindel,exonic,CRISPLD1,NA,nonsynonymous SNV,"CRISPLD1:NM_001286777:exon5:c.G224A:p.R75Q,CRISPLD1:NM_001286778:exon6:c.G218A:p.R73Q,CRISPLD1:NM_031461:exon7:c.G782A:p.R261Q",T,N,D,T,N,T
chr8,144875154,144875154,G,A,P197462_F,SCRIB,Missense_Mutation,NM_015356,exon29,c.C4009T,p.P1337S,SNP,SNVindel,exonic,SCRIB,NA,nonsynonymous SNV,"SCRIB:NM_015356:exon29:c.C4009T:p.P1337S,SCRIB:NM_182706:exon29:c.C4009T:p.P1337S",D,.,N,T,N,T
chr11,60708671,60708671,C,T,P197462_F,SLC15A3,Missense_Mutation,NM_016582,exon5,c.G1199A,p.R400Q,SNP,SNVindel,exonic,SLC15A3,NA,nonsynonymous SNV,SLC15A3:NM_016582:exon5:c.G1199A:p.R400Q,D,N,N,T,N,T
chr12,80889863,80889863,C,A,P197462_F,PTPRQ,Silent,NM_001145026,exon10,c.C1452A,p.I484I,SNP,SNVindel,exonic,PTPRQ,NA,synonymous SNV,PTPRQ:NM_001145026:exon10:c.C1452A:p.I484I,NA,NA,NA,NA,NA,NA
chr5,76736742,76736742,G,A,P197462_F,WDR41,Missense_Mutation,NM_018268,exon9,c.C778T,p.R260C,SNP,SNVindel,exonic,WDR41,NA,nonsynonymous SNV,WDR41:NM_018268:exon9:c.C778T:p.R260C,T,N,D,T,N,T
chr22,38481311,38481311,C,A,P197462_F,BAIAP2L2,Missense_Mutation,NM_025045,exon14,c.G1586T,p.R529L,SNP,SNVindel,exonic,BAIAP2L2,NA,nonsynonymous SNV,BAIAP2L2:NM_025045:exon14:c.G1586T:p.R529L,D,U,D,.,D,T
chrX,105891597,105891597,C,G,P197462_F,RADX,Silent,NM_001184782,exon10,c.C1668G,p.G556G,SNP,SNVindel,exonic,RADX,NA,synonymous SNV,"RADX:NM_001184782:exon10:c.C1668G:p.G556G,RADX:NM_018015:exon11:c.C1959G:p.G653G",NA,NA,NA,NA,NA,NA
chr2,86716770,86716770,A,G,P197462_F,KDM3A,Silent,NM_001146688,exon23,c.A3561G,p.E1187E,SNP,SNVindel,exonic,KDM3A,NA,synonymous SNV,"KDM3A:NM_001146688:exon23:c.A3561G:p.E1187E,KDM3A:NM_018433:exon23:c.A3561G:p.E1187E",NA,NA,NA,NA,NA,NA
chr11,4510537,4510537,C,T,P197462_F,OR52K1,Missense_Mutation,NM_001005171,exon1,c.C407T,p.T136M,SNP,SNVindel,exonic,OR52K1,NA,nonsynonymous SNV,OR52K1:NM_001005171:exon1:c.C407T:p.T136M,T,N,N,T,D,T
chr5,115783320,115783320,C,T,P197462_F,SEMA6A,Silent,NM_020796,exon19,c.G2082A,p.S694S,SNP,SNVindel,exonic,SEMA6A,NA,synonymous SNV,"SEMA6A:NM_020796:exon19:c.G2082A:p.S694S,SEMA6A:NM_001300780:exon20:c.G2133A:p.S711S",NA,NA,NA,NA,NA,NA
chr19,4512541,4512541,C,T,P197462_F,PLIN4,Silent,NM_001367868,exon5,c.G1431A,p.A477A,SNP,SNVindel,exonic,PLIN4,NA,synonymous SNV,PLIN4:NM_001367868:exon5:c.G1431A:p.A477A,NA,NA,NA,NA,NA,NA
chr2,86697366,86697366,T,A,P197462_F,KDM3A,Missense_Mutation,NM_001146688,exon11,c.T1559A,p.L520H,SNP,SNVindel,exonic,KDM3A,NA,nonsynonymous SNV,"KDM3A:NM_001146688:exon11:c.T1559A:p.L520H,KDM3A:NM_018433:exon11:c.T1559A:p.L520H",D,N,D,T,D,T
chr2,86697367,86697367,C,T,P197462_F,KDM3A,Silent,NM_001146688,exon11,c.C1560T,p.L520L,SNP,SNVindel,exonic,KDM3A,NA,synonymous SNV,"KDM3A:NM_001146688:exon11:c.C1560T:p.L520L,KDM3A:NM_018433:exon11:c.C1560T:p.L520L",NA,NA,NA,NA,NA,NA
chr12,51126212,51126212,G,A,P197462_F,DIP2B,Missense_Mutation,NM_173602,exon32,c.G3874A,p.V1292I,SNP,SNVindel,exonic,DIP2B,NA,nonsynonymous SNV,DIP2B:NM_173602:exon32:c.G3874A:p.V1292I,T,N,N,T,N,T
chr3,3030128,3030128,T,C,P197462_F,CNTN4,Silent,NM_001206956,exon5,c.T474C,p.A158A,SNP,SNVindel,exonic,CNTN4,NA,synonymous SNV,"CNTN4:NM_001206956:exon5:c.T474C:p.A158A,CNTN4:NM_175613:exon5:c.T474C:p.A158A,CNTN4:NM_001206955:exon13:c.T1458C:p.A486A,CNTN4:NM_001350095:exon14:c.T1458C:p.A486A,CNTN4:NM_175607:exon14:c.T1458C:p.A486A",NA,NA,NA,NA,NA,NA
chr7,128492997,128492997,C,T,P197462_F,FLNC,Silent,NM_001127487,exon36,c.C6021T,p.D2007D,SNP,SNVindel,exonic,FLNC,NA,synonymous SNV,"FLNC:NM_001127487:exon36:c.C6021T:p.D2007D,FLNC:NM_001458:exon37:c.C6120T:p.D2040D",NA,NA,NA,NA,NA,NA
chr2,25360314,25360314,C,T,P197462_F,EFR3B,Silent,NM_001319099,exon15,c.C1560T,p.I520I,SNP,SNVindel,exonic,EFR3B,NA,synonymous SNV,"EFR3B:NM_001319099:exon15:c.C1560T:p.I520I,EFR3B:NM_014971:exon15:c.C1665T:p.I555I",NA,NA,NA,NA,NA,NA
chr10,24908998,24908998,C,T,P197462_F,ARHGAP21,Missense_Mutation,NM_001367455,exon2,c.G1187A,p.R396Q,SNP,SNVindel,exonic,ARHGAP21,NA,nonsynonymous SNV,"ARHGAP21:NM_001367455:exon2:c.G1187A:p.R396Q,ARHGAP21:NM_001367452:exon6:c.G1355A:p.R452Q,ARHGAP21:NM_001367447:exon8:c.G1796A:p.R599Q,ARHGAP21:NM_001367451:exon8:c.G1796A:p.R599Q,ARHGAP21:NM_001367453:exon8:c.G1796A:p.R599Q,ARHGAP21:NM_001367448:exon9:c.G1826A:p.R609Q,ARHGAP21:NM_001367454:exon9:c.G1826A:p.R609Q,ARHGAP21:NM_020824:exon9:c.G1826A:p.R609Q,ARHGAP21:NM_001367449:exon10:c.G1532A:p.R511Q,ARHGAP21:NM_001367450:exon11:c.G1532A:p.R511Q",D,N,N,T,N,T
chr12,49982238,49982238,G,A,P197462_F,FAM186B,Missense_Mutation,NM_032130,exon6,c.C2533T,p.R845C,SNP,SNVindel,exonic,FAM186B,NA,nonsynonymous SNV,FAM186B:NM_032130:exon6:c.C2533T:p.R845C,T,N,N,T,D,T
chr3,128622934,128622934,A,C,P197462_F,ACAD9,Missense_Mutation,NM_014049,exon10,c.A988C,p.K330Q,SNP,SNVindel,exonic,ACAD9,NA,nonsynonymous SNV,ACAD9:NM_014049:exon10:c.A988C:p.K330Q,T,D,D,D,N,D
chr12,57870740,57870740,G,T,P197462_F,ARHGAP9,Missense_Mutation,NM_001080156,exon4,c.C325A,p.L109I,SNP,SNVindel,exonic,ARHGAP9,NA,nonsynonymous SNV,"ARHGAP9:NM_001080156:exon4:c.C325A:p.L109I,ARHGAP9:NM_001319852:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367422:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367424:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367426:exon4:c.C325A:p.L109I,ARHGAP9:NM_001080157:exon5:c.C877A:p.L293I,ARHGAP9:NM_032496:exon6:c.C877A:p.L293I,ARHGAP9:NM_001319850:exon9:c.C877A:p.L293I",T,N,N,T,N,T
chr16,23767738,23767738,G,T,P197462_F,CHP2,Missense_Mutation,NM_022097,exon5,c.G382T,p.D128Y,SNP,SNVindel,exonic,CHP2,NA,nonsynonymous SNV,CHP2:NM_022097:exon5:c.G382T:p.D128Y,D,D,D,T,D,D
chr9,13247672,13247672,G,A,P197462_F,MPDZ,Silent,NM_001261406,exon3,c.C145T,p.L49L,SNP,SNVindel,exonic,MPDZ,NA,synonymous SNV,"MPDZ:NM_001261406:exon3:c.C145T:p.L49L,MPDZ:NM_001261407:exon3:c.C145T:p.L49L,MPDZ:NM_001330637:exon3:c.C145T:p.L49L,MPDZ:NM_003829:exon3:c.C145T:p.L49L",NA,NA,NA,NA,NA,NA
chr2,100029254,100029254,C,T,P197462_F,REV1,Missense_Mutation,NM_001037872,exon13,c.G2108A,p.R703Q,SNP,SNVindel,exonic,REV1,NA,nonsynonymous SNV,"REV1:NM_001037872:exon13:c.G2108A:p.R703Q,REV1:NM_016316:exon13:c.G2111A:p.R704Q,REV1:NM_001321454:exon14:c.G2219A:p.R740Q,REV1:NM_001321455:exon14:c.G1898A:p.R633Q,REV1:NM_001321458:exon14:c.G641A:p.R214Q,REV1:NM_001321459:exon14:c.G542A:p.R181Q,REV1:NM_001321460:exon14:c.G542A:p.R181Q",T,D,D,T,N,T
chr16,67691194,67691194,C,T,P197462_F,CARMIL2,Silent,NM_001013838,exon37,c.C4170T,p.L1390L,SNP,SNVindel,exonic,CARMIL2,NA,synonymous SNV,"CARMIL2:NM_001013838:exon37:c.C4170T:p.L1390L,CARMIL2:NM_001317026:exon37:c.C3981T:p.L1327L",NA,NA,NA,NA,NA,NA
chr12,71960686,71960686,A,G,P197462_F,LGR5,Missense_Mutation,NM_001277226,exon10,c.A992G,p.Q331R,SNP,SNVindel,exonic,LGR5,NA,nonsynonymous SNV,"LGR5:NM_001277226:exon10:c.A992G:p.Q331R,LGR5:NM_001277227:exon10:c.A848G:p.Q283R,LGR5:NM_003667:exon11:c.A1064G:p.Q355R",T,N,D,T,N,T
chr2,149803531,149803531,C,T,P197462_F,KIF5C,Silent,NM_004522,exon8,c.C708T,p.S236S,SNP,SNVindel,exonic,KIF5C,NA,synonymous SNV,KIF5C:NM_004522:exon8:c.C708T:p.S236S,NA,NA,NA,NA,NA,NA
chr10,16960683,16960683,T,A,P197462_F,CUBN,Missense_Mutation,NM_001081,exon45,c.A6938T,p.Y2313F,SNP,SNVindel,exonic,CUBN,NA,nonsynonymous SNV,CUBN:NM_001081:exon45:c.A6938T:p.Y2313F,D,N,D,T,D,T
chr1,47016800,47016800,C,T,P197462_F,KNCN,Missense_Mutation,NM_001097611,exon1,c.G88A,p.G30S,SNP,SNVindel,exonic,KNCN,NA,nonsynonymous SNV,"KNCN:NM_001097611:exon1:c.G88A:p.G30S,KNCN:NM_001322255:exon1:c.G88A:p.G30S",D,.,N,T,D,T
chr1,161495338,161495338,C,A,P197462_F,HSPA6,Missense_Mutation,NM_002155,exon1,c.C890A,p.T297K,SNP,SNVindel,exonic,HSPA6,NA,nonsynonymous SNV,HSPA6:NM_002155:exon1:c.C890A:p.T297K,D,U,D,T,D,T
chr1,176903324,176903324,G,A,P197462_F,ASTN1,Missense_Mutation,NM_001286164,exon16,c.C2635T,p.R879W,SNP,SNVindel,exonic,ASTN1,NA,nonsynonymous SNV,"ASTN1:NM_001286164:exon16:c.C2635T:p.R879W,ASTN1:NM_001364856:exon16:c.C2659T:p.R887W,ASTN1:NM_004319:exon16:c.C2635T:p.R879W,ASTN1:NM_207108:exon16:c.C2635T:p.R879W",D,D,D,T,N,T
chr2,209113112,209113112,C,T,P197462_F,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,238732959,238732959,C,T,P197462_F,RBM44,Silent,NM_001080504,exon10,c.C2349T,p.S783S,SNP,SNVindel,exonic,RBM44,NA,synonymous SNV,RBM44:NM_001080504:exon10:c.C2349T:p.S783S,NA,NA,NA,NA,NA,NA
chr3,129304822,129304822,G,A,P197462_F,PLXND1,Silent,NM_015103,exon5,c.C1824T,p.S608S,SNP,SNVindel,exonic,PLXND1,NA,synonymous SNV,PLXND1:NM_015103:exon5:c.C1824T:p.S608S,NA,NA,NA,NA,NA,NA
chr3,196744089,196744089,C,T,P197462_F,MELTF,Missense_Mutation,NM_005929,exon7,c.G785A,p.R262Q,SNP,SNVindel,exonic,MELTF,NA,nonsynonymous SNV,MELTF:NM_005929:exon7:c.G785A:p.R262Q,T,N,N,T,D,T
chr5,140207965,140207965,G,C,P197462_F,PCDHA6,Missense_Mutation,NM_018909,exon1,c.G289C,p.G97R,SNP,SNVindel,exonic,PCDHA6,NA,nonsynonymous SNV,"PCDHA6:NM_018909:exon1:c.G289C:p.G97R,PCDHA6:NM_031848:exon1:c.G289C:p.G97R,PCDHA6:NM_031849:exon1:c.G289C:p.G97R",T,U,D,T,D,T
chr8,139774703,139774703,G,A,P197462_F,COL22A1,Nonsense_Mutation,NM_152888,exon17,c.C1810T,p.R604X,SNP,SNVindel,exonic,COL22A1,NA,stopgain,COL22A1:NM_152888:exon17:c.C1810T:p.R604X,.,U,A,.,.,.
chr10,73767342,73767342,G,A,P197462_F,CHST3,Missense_Mutation,NM_004273,exon3,c.G553A,p.A185T,SNP,SNVindel,exonic,CHST3,NA,nonsynonymous SNV,CHST3:NM_004273:exon3:c.G553A:p.A185T,T,N,D,D,N,D
chr10,96818189,96818189,C,T,P197462_F,CYP2C8,Missense_Mutation,NM_001198854,exon4,c.G416A,p.R139Q,SNP,SNVindel,exonic,CYP2C8,NA,nonsynonymous SNV,"CYP2C8:NM_001198854:exon4:c.G416A:p.R139Q,CYP2C8:NM_000770:exon5:c.G722A:p.R241Q,CYP2C8:NM_001198853:exon5:c.G512A:p.R171Q,CYP2C8:NM_001198855:exon6:c.G512A:p.R171Q",D,N,N,T,N,T
chr11,57472445,57472445,C,T,P197462_F,MED19,Silent,NM_001317078,exon2,c.G525A,p.P175P,SNP,SNVindel,exonic,MED19,NA,synonymous SNV,"MED19:NM_001317078:exon2:c.G525A:p.P175P,MED19:NM_153450:exon2:c.G474A:p.P158P",NA,NA,NA,NA,NA,NA
chr11,61897513,61897513,G,A,P197462_F,INCENP,Missense_Mutation,NM_001040694,exon4,c.G514A,p.G172S,SNP,SNVindel,exonic,INCENP,NA,nonsynonymous SNV,"INCENP:NM_001040694:exon4:c.G514A:p.G172S,INCENP:NM_020238:exon4:c.G514A:p.G172S",T,N,N,T,N,T
chr11,75511452,75511452,G,A,P197462_F,DGAT2,Missense_Mutation,NM_001253891,exon7,c.G937A,p.D313N,SNP,SNVindel,exonic,DGAT2,NA,nonsynonymous SNV,"DGAT2:NM_001253891:exon7:c.G937A:p.D313N,DGAT2:NM_032564:exon8:c.G1066A:p.D356N",T,D,D,T,D,T
chr12,31244748,31244748,G,A,P197462_F,DDX11,Silent,NM_001257144,exon10,c.G1185A,p.A395A,SNP,SNVindel,exonic,DDX11,NA,synonymous SNV,"DDX11:NM_001257144:exon10:c.G1185A:p.A395A,DDX11:NM_001257145:exon10:c.G1107A:p.A369A,DDX11:NM_004399:exon10:c.G1185A:p.A395A,DDX11:NM_030653:exon10:c.G1185A:p.A395A,DDX11:NM_152438:exon10:c.G1185A:p.A395A",NA,NA,NA,NA,NA,NA
chr12,44161948,44161948,C,T,P197462_F,IRAK4,Missense_Mutation,NM_016123,exon2,c.C34T,p.R12C,SNP,SNVindel,exonic,IRAK4,NA,nonsynonymous SNV,"IRAK4:NM_016123:exon2:c.C34T:p.R12C,IRAK4:NM_001114182:exon3:c.C34T:p.R12C,IRAK4:NM_001351345:exon3:c.C34T:p.R12C",D,D,D,T,D,D
chr14,20404272,20404272,G,T,P197462_F,OR4K1,Missense_Mutation,NM_001004063,exon1,c.G447T,p.W149C,SNP,SNVindel,exonic,OR4K1,NA,nonsynonymous SNV,OR4K1:NM_001004063:exon1:c.G447T:p.W149C,D,D,D,T,D,T
chr14,26917671,26917671,C,T,P197462_F,NOVA1,Missense_Mutation,NM_001366394,exon4,c.G835A,p.A279T,SNP,SNVindel,exonic,NOVA1,NA,nonsynonymous SNV,"NOVA1:NM_001366394:exon4:c.G835A:p.A279T,NOVA1:NM_001366397:exon4:c.G580A:p.A194T,NOVA1:NM_006489:exon4:c.G946A:p.A316T,NOVA1:NM_001366390:exon5:c.G580A:p.A194T,NOVA1:NM_001366392:exon5:c.G1015A:p.A339T,NOVA1:NM_001366393:exon5:c.G907A:p.A303T,NOVA1:NM_001366398:exon5:c.G652A:p.A218T,NOVA1:NM_002515:exon5:c.G1018A:p.A340T,NOVA1:NM_001366391:exon6:c.G652A:p.A218T,NOVA1:NM_001366395:exon6:c.G652A:p.A218T,NOVA1:NM_001366396:exon6:c.G652A:p.A218T",T,D,D,T,N,T
chr14,42360832,42360832,G,A,P197462_F,LRFN5,Missense_Mutation,NM_001346173,exon3,c.G1765A,p.V589M,SNP,SNVindel,exonic,LRFN5,NA,nonsynonymous SNV,"LRFN5:NM_001346173:exon3:c.G1765A:p.V589M,LRFN5:NM_152447:exon4:c.G1765A:p.V589M",T,N,D,T,N,T
chr14,102912270,102912270,G,A,P197462_F,TECPR2,Missense_Mutation,NM_001172631,exon13,c.G3061A,p.D1021N,SNP,SNVindel,exonic,TECPR2,NA,nonsynonymous SNV,"TECPR2:NM_001172631:exon13:c.G3061A:p.D1021N,TECPR2:NM_014844:exon13:c.G3061A:p.D1021N",T,N,D,T,N,T
chr15,40591069,40591069,C,T,P197462_F,PLCB2,Silent,NM_001284297,exon9,c.G780A,p.P260P,SNP,SNVindel,exonic,PLCB2,NA,synonymous SNV,"PLCB2:NM_001284297:exon9:c.G780A:p.P260P,PLCB2:NM_001284298:exon9:c.G780A:p.P260P,PLCB2:NM_004573:exon9:c.G780A:p.P260P",NA,NA,NA,NA,NA,NA
chr17,4876991,4876991,C,T,P197462_F,CAMTA2,Nonsense_Mutation,NM_001171166,exon12,c.G2096A,p.W699X,SNP,SNVindel,exonic,CAMTA2,NA,stopgain,"CAMTA2:NM_001171166:exon12:c.G2096A:p.W699X,CAMTA2:NM_001171168:exon12:c.G2087A:p.W696X,CAMTA2:NM_001171167:exon13:c.G2159A:p.W720X,CAMTA2:NM_015099:exon13:c.G2090A:p.W697X",.,D,A,.,.,.
chr17,7577538,7577538,C,T,P197462_F,TP53,Missense_Mutation,NM_001126115,exon3,c.G347A,p.R116Q,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon3:c.G347A:p.R116Q,TP53:NM_001126116:exon3:c.G347A:p.R116Q,TP53:NM_001126117:exon3:c.G347A:p.R116Q,TP53:NM_001276697:exon3:c.G266A:p.R89Q,TP53:NM_001276698:exon3:c.G266A:p.R89Q,TP53:NM_001276699:exon3:c.G266A:p.R89Q,TP53:NM_001126118:exon6:c.G626A:p.R209Q,TP53:NM_000546:exon7:c.G743A:p.R248Q,TP53:NM_001126112:exon7:c.G743A:p.R248Q,TP53:NM_001126113:exon7:c.G743A:p.R248Q,TP53:NM_001126114:exon7:c.G743A:p.R248Q,TP53:NM_001276695:exon7:c.G626A:p.R209Q,TP53:NM_001276696:exon7:c.G626A:p.R209Q,TP53:NM_001276760:exon7:c.G626A:p.R209Q,TP53:NM_001276761:exon7:c.G626A:p.R209Q",D,D,A,D,D,D
chr17,11774938,11774938,C,T,P197462_F,DNAH9,Silent,NM_001372,exon52,c.C10077T,p.N3359N,SNP,SNVindel,exonic,DNAH9,NA,synonymous SNV,DNAH9:NM_001372:exon52:c.C10077T:p.N3359N,NA,NA,NA,NA,NA,NA
chr19,33490500,33490500,C,T,P197462_F,RHPN2,Missense_Mutation,NM_033103,exon10,c.G1217A,p.R406Q,SNP,SNVindel,exonic,RHPN2,NA,nonsynonymous SNV,RHPN2:NM_033103:exon10:c.G1217A:p.R406Q,T,N,N,T,N,T
chr20,1209230,1209230,C,A,P197462_F,RAD21L1,Missense_Mutation,NM_001136566,exon2,c.C133A,p.L45I,SNP,SNVindel,exonic,RAD21L1,NA,nonsynonymous SNV,RAD21L1:NM_001136566:exon2:c.C133A:p.L45I,T,N,N,T,N,T
chr22,31137304,31137304,C,T,P197462_F,OSBP2,Silent,NM_001282739,exon2,c.C801T,p.T267T,SNP,SNVindel,exonic,OSBP2,NA,synonymous SNV,"OSBP2:NM_001282739:exon2:c.C801T:p.T267T,OSBP2:NM_030758:exon2:c.C801T:p.T267T,OSBP2:NM_001282738:exon3:c.C306T:p.T102T",NA,NA,NA,NA,NA,NA
chr22,45574145,45574145,A,G,P197462_F,NUP50,Missense_Mutation,NM_007172,exon5,c.A367G,p.T123A,SNP,SNVindel,exonic,NUP50,NA,nonsynonymous SNV,"NUP50:NM_007172:exon5:c.A367G:p.T123A,NUP50:NM_153645:exon6:c.A283G:p.T95A",T,N,N,.,N,T
chr1,52704290,52704290,A,G,P197462_S,ZFYVE9,Missense_Mutation,NM_004799,exon4,c.A1201G,p.N401D,SNP,SNVindel,exonic,ZFYVE9,NA,nonsynonymous SNV,"ZFYVE9:NM_004799:exon4:c.A1201G:p.N401D,ZFYVE9:NM_007324:exon4:c.A1201G:p.N401D",D,N,N,T,N,T
chr1,247921335,247921335,G,A,P197462_S,OR1C1,Missense_Mutation,NM_012353,exon1,c.C374T,p.A125V,SNP,SNVindel,exonic,OR1C1,NA,nonsynonymous SNV,OR1C1:NM_012353:exon1:c.C374T:p.A125V,D,.,D,T,D,T
chr2,15514777,15514777,C,T,P197462_S,NBAS,Missense_Mutation,NM_015909,exon31,c.G3658A,p.V1220I,SNP,SNVindel,exonic,NBAS,NA,nonsynonymous SNV,NBAS:NM_015909:exon31:c.G3658A:p.V1220I,T,D,N,T,N,T
chr2,73493769,73493769,G,A,P197462_S,FBXO41,Missense_Mutation,NM_001371389,exon3,c.C947T,p.A316V,SNP,SNVindel,exonic,FBXO41,NA,nonsynonymous SNV,"FBXO41:NM_001371389:exon3:c.C947T:p.A316V,FBXO41:NM_001080410:exon7:c.C947T:p.A316V",T,N,D,T,N,T
chr3,13361459,13361459,G,A,P197462_S,NUP210,Silent,NM_024923,exon37,c.C5187T,p.A1729A,SNP,SNVindel,exonic,NUP210,NA,synonymous SNV,NUP210:NM_024923:exon37:c.C5187T:p.A1729A,NA,NA,NA,NA,NA,NA
chr8,37692733,37692733,G,A,P197462_S,ADGRA2,Silent,NM_032777,exon12,c.G1650A,p.P550P,SNP,SNVindel,exonic,ADGRA2,NA,synonymous SNV,ADGRA2:NM_032777:exon12:c.G1650A:p.P550P,NA,NA,NA,NA,NA,NA
chr8,143846550,143846550,C,T,P197462_S,LYNX1-SLURP2,Missense_Mutation,NM_001356372,exon2,c.G61A,p.E21K,SNP,SNVindel,exonic,LYNX1-SLURP2;SLURP2,NA,nonsynonymous SNV,"SLURP2:NM_001356372:exon2:c.G61A:p.E21K,SLURP2:NM_177458:exon2:c.G61A:p.E21K,LYNX1-SLURP2:NM_023946:exon4:c.G163A:p.E55K",T,.,N,T,N,T
chr12,4737649,4737649,C,T,P197462_S,AKAP3,Missense_Mutation,NM_001278309,exon5,c.G419A,p.R140H,SNP,SNVindel,exonic,AKAP3,NA,nonsynonymous SNV,"AKAP3:NM_001278309:exon5:c.G419A:p.R140H,AKAP3:NM_006422:exon5:c.G419A:p.R140H",T,D,D,T,N,T
chr14,20851719,20851719,G,A,P197462_S,TEP1,Silent,NM_001319035,exon24,c.C3471T,p.I1157I,SNP,SNVindel,exonic,TEP1,NA,synonymous SNV,"TEP1:NM_001319035:exon24:c.C3471T:p.I1157I,TEP1:NM_007110:exon26:c.C3795T:p.I1265I",NA,NA,NA,NA,NA,NA
chr16,75147500,75147500,C,T,P197462_S,LDHD,Missense_Mutation,NM_153486,exon8,c.G1088A,p.R363H,SNP,SNVindel,exonic,LDHD,NA,nonsynonymous SNV,"LDHD:NM_153486:exon8:c.G1088A:p.R363H,LDHD:NM_194436:exon8:c.G1019A:p.R340H",D,N,D,D,D,D
chr17,11725797,11725797,C,T,P197462_S,DNAH9,Missense_Mutation,NM_001372,exon47,c.C8893T,p.R2965C,SNP,SNVindel,exonic,DNAH9,NA,nonsynonymous SNV,DNAH9:NM_001372:exon47:c.C8893T:p.R2965C,D,D,D,T,D,D
chr20,52193350,52193350,C,T,P197462_S,ZNF217,Silent,NM_006526,exon3,c.G1953A,p.P651P,SNP,SNVindel,exonic,ZNF217,NA,synonymous SNV,ZNF217:NM_006526:exon3:c.G1953A:p.P651P,NA,NA,NA,NA,NA,NA
chrX,16696535,16696535,G,A,P197462_S,CTPS2,Silent,NM_001144002,exon10,c.C1044T,p.T348T,SNP,SNVindel,exonic,CTPS2,NA,synonymous SNV,"CTPS2:NM_001144002:exon10:c.C1044T:p.T348T,CTPS2:NM_019857:exon10:c.C1044T:p.T348T,CTPS2:NM_175859:exon10:c.C1044T:p.T348T",NA,NA,NA,NA,NA,NA
chr2,218758179,218758179,C,T,P197462_S,TNS1,Missense_Mutation,NM_001308022,exon7,c.G325A,p.V109I,SNP,SNVindel,exonic,TNS1,NA,nonsynonymous SNV,"TNS1:NM_001308022:exon7:c.G325A:p.V109I,TNS1:NM_001308023:exon7:c.G325A:p.V109I,TNS1:NM_022648:exon8:c.G325A:p.V109I",D,D,D,D,N,D
chr7,141720869,141720869,C,T,P197462_S,MGAM,Missense_Mutation,NM_001365693,exon5,c.C544T,p.R182C,SNP,SNVindel,exonic,MGAM,NA,nonsynonymous SNV,"MGAM:NM_001365693:exon5:c.C544T:p.R182C,MGAM:NM_004668:exon5:c.C544T:p.R182C",D,D,D,T,D,D
chr12,56092685,56092685,C,T,P197462_S,ITGA7,Silent,NM_001144996,exon6,c.G819A,p.S273S,SNP,SNVindel,exonic,ITGA7,NA,synonymous SNV,"ITGA7:NM_001144996:exon6:c.G819A:p.S273S,ITGA7:NM_001144997:exon6:c.G528A:p.S176S,ITGA7:NM_002206:exon6:c.G807A:p.S269S,ITGA7:NM_001367993:exon7:c.G480A:p.S160S",NA,NA,NA,NA,NA,NA
chr3,183961666,183961666,G,A,P197462_S,ALG3,Missense_Mutation,NM_001006941,exon6,c.C701T,p.A234V,SNP,SNVindel,exonic,ALG3,NA,nonsynonymous SNV,"ALG3:NM_001006941:exon6:c.C701T:p.A234V,ALG3:NM_005787:exon6:c.C845T:p.A282V",T,U,N,D,N,T
chr8,86242031,86242031,G,A,P197462_S,CA1,Missense_Mutation,NM_001291968,exon5,c.C217T,p.L73F,SNP,SNVindel,exonic,CA1,NA,nonsynonymous SNV,"CA1:NM_001291968:exon5:c.C217T:p.L73F,CA1:NM_001164830:exon6:c.C556T:p.L186F,CA1:NM_001291967:exon6:c.C358T:p.L120F,CA1:NM_001128831:exon7:c.C556T:p.L186F,CA1:NM_001128829:exon8:c.C556T:p.L186F,CA1:NM_001128830:exon8:c.C556T:p.L186F,CA1:NM_001738:exon8:c.C556T:p.L186F",T,N,D,T,D,T
chr10,135083961,135083961,C,T,P197462_S,ADAM8,Missense_Mutation,NM_001164490,exon15,c.G1571A,p.R524H,SNP,SNVindel,exonic,ADAM8,NA,nonsynonymous SNV,"ADAM8:NM_001164490:exon15:c.G1571A:p.R524H,ADAM8:NM_001109:exon16:c.G1688A:p.R563H,ADAM8:NM_001164489:exon16:c.G1688A:p.R563H",T,.,N,T,D,.
chr11,40135971,40135971,C,T,P197462_S,LRRC4C,Silent,NM_020929,exon5,c.G1872A,p.P624P,SNP,SNVindel,exonic,LRRC4C,NA,synonymous SNV,"LRRC4C:NM_020929:exon5:c.G1872A:p.P624P,LRRC4C:NM_001258419:exon7:c.G1872A:p.P624P",NA,NA,NA,NA,NA,NA
chr12,89864264,89864264,G,A,P197462_S,POC1B,Silent,NM_001199777,exon6,c.C558T,p.S186S,SNP,SNVindel,exonic,POC1B,NA,synonymous SNV,"POC1B:NM_001199777:exon6:c.C558T:p.S186S,POC1B:NM_172240:exon7:c.C684T:p.S228S",NA,NA,NA,NA,NA,NA
chr15,42374548,42374548,C,T,P197462_S,PLA2G4D,Missense_Mutation,NM_178034,exon9,c.G712A,p.G238R,SNP,SNVindel,exonic,PLA2G4D,NA,nonsynonymous SNV,PLA2G4D:NM_178034:exon9:c.G712A:p.G238R,T,N,N,T,N,T
chr10,16553050,16553050,G,A,P197462_S,PTER,Missense_Mutation,NM_001261838,exon4,c.G398A,p.R133H,SNP,SNVindel,exonic,PTER,NA,nonsynonymous SNV,"PTER:NM_001261838:exon4:c.G398A:p.R133H,PTER:NM_001261836:exon5:c.G845A:p.R282H,PTER:NM_001261837:exon5:c.G704A:p.R235H,PTER:NM_001001484:exon6:c.G845A:p.R282H,PTER:NM_030664:exon6:c.G845A:p.R282H",T,N,D,T,N,T
chr12,31106952,31106952,C,T,P197462_S,TSPAN11,Silent,NM_001080509,exon2,c.C27T,p.D9D,SNP,SNVindel,exonic,TSPAN11,NA,synonymous SNV,"TSPAN11:NM_001080509:exon2:c.C27T:p.D9D,TSPAN11:NM_001370302:exon2:c.C27T:p.D9D",NA,NA,NA,NA,NA,NA
chr20,40730779,40730779,G,A,P197462_S,PTPRT,Silent,NM_007050,exon26,c.C3699T,p.N1233N,SNP,SNVindel,exonic,PTPRT,NA,synonymous SNV,"PTPRT:NM_007050:exon26:c.C3699T:p.N1233N,PTPRT:NM_133170:exon27:c.C3756T:p.N1252N",NA,NA,NA,NA,NA,NA
chr3,119887047,119887047,G,A,P197462_S,GPR156,Missense_Mutation,NM_001168271,exon9,c.C1265T,p.S422L,SNP,SNVindel,exonic,GPR156,NA,nonsynonymous SNV,"GPR156:NM_001168271:exon9:c.C1265T:p.S422L,GPR156:NM_153002:exon9:c.C1277T:p.S426L",T,N,N,T,N,T
chr2,113984805,113984805,G,A,P197462_S,PAX8,Missense_Mutation,NM_013953,exon8,c.C806T,p.P269L,SNP,SNVindel,exonic,PAX8,NA,nonsynonymous SNV,"PAX8:NM_013953:exon8:c.C806T:p.P269L,PAX8:NM_013952:exon10:c.C1037T:p.P346L",T,D,D,D,N,T
chr10,15701045,15701045,T,A,P197462_S,ITGA8,Missense_Mutation,NM_001291494,exon9,c.A856T,p.I286F,SNP,SNVindel,exonic,ITGA8,NA,nonsynonymous SNV,"ITGA8:NM_001291494:exon9:c.A856T:p.I286F,ITGA8:NM_003638:exon10:c.A901T:p.I301F",T,D,D,T,N,T
chr15,84581995,84581995,C,T,P197462_S,ADAMTSL3,Missense_Mutation,NM_001301110,exon16,c.C1852T,p.R618W,SNP,SNVindel,exonic,ADAMTSL3,NA,nonsynonymous SNV,"ADAMTSL3:NM_001301110:exon16:c.C1852T:p.R618W,ADAMTSL3:NM_207517:exon16:c.C1852T:p.R618W",D,D,D,T,D,D
chr17,8273384,8273384,G,A,P197462_S,KRBA2,Nonsense_Mutation,NM_001304947,exon2,c.C301T,p.R101X,SNP,SNVindel,exonic,KRBA2,NA,stopgain,"KRBA2:NM_001304947:exon2:c.C301T:p.R101X,KRBA2:NM_213597:exon2:c.C547T:p.R183X",.,.,D,.,.,.
chr8,75928854,75928854,G,A,P197462_S,CRISPLD1,Missense_Mutation,NM_001286777,exon5,c.G224A,p.R75Q,SNP,SNVindel,exonic,CRISPLD1,NA,nonsynonymous SNV,"CRISPLD1:NM_001286777:exon5:c.G224A:p.R75Q,CRISPLD1:NM_001286778:exon6:c.G218A:p.R73Q,CRISPLD1:NM_031461:exon7:c.G782A:p.R261Q",T,N,D,T,N,T
chr8,144875154,144875154,G,A,P197462_S,SCRIB,Missense_Mutation,NM_015356,exon29,c.C4009T,p.P1337S,SNP,SNVindel,exonic,SCRIB,NA,nonsynonymous SNV,"SCRIB:NM_015356:exon29:c.C4009T:p.P1337S,SCRIB:NM_182706:exon29:c.C4009T:p.P1337S",D,.,N,T,N,T
chr11,60708671,60708671,C,T,P197462_S,SLC15A3,Missense_Mutation,NM_016582,exon5,c.G1199A,p.R400Q,SNP,SNVindel,exonic,SLC15A3,NA,nonsynonymous SNV,SLC15A3:NM_016582:exon5:c.G1199A:p.R400Q,D,N,N,T,N,T
chr12,80889863,80889863,C,A,P197462_S,PTPRQ,Silent,NM_001145026,exon10,c.C1452A,p.I484I,SNP,SNVindel,exonic,PTPRQ,NA,synonymous SNV,PTPRQ:NM_001145026:exon10:c.C1452A:p.I484I,NA,NA,NA,NA,NA,NA
chr5,76736742,76736742,G,A,P197462_S,WDR41,Missense_Mutation,NM_018268,exon9,c.C778T,p.R260C,SNP,SNVindel,exonic,WDR41,NA,nonsynonymous SNV,WDR41:NM_018268:exon9:c.C778T:p.R260C,T,N,D,T,N,T
chr22,38481311,38481311,C,A,P197462_S,BAIAP2L2,Missense_Mutation,NM_025045,exon14,c.G1586T,p.R529L,SNP,SNVindel,exonic,BAIAP2L2,NA,nonsynonymous SNV,BAIAP2L2:NM_025045:exon14:c.G1586T:p.R529L,D,U,D,.,D,T
chrX,105891597,105891597,C,G,P197462_S,RADX,Silent,NM_001184782,exon10,c.C1668G,p.G556G,SNP,SNVindel,exonic,RADX,NA,synonymous SNV,"RADX:NM_001184782:exon10:c.C1668G:p.G556G,RADX:NM_018015:exon11:c.C1959G:p.G653G",NA,NA,NA,NA,NA,NA
chr2,86716770,86716770,A,G,P197462_S,KDM3A,Silent,NM_001146688,exon23,c.A3561G,p.E1187E,SNP,SNVindel,exonic,KDM3A,NA,synonymous SNV,"KDM3A:NM_001146688:exon23:c.A3561G:p.E1187E,KDM3A:NM_018433:exon23:c.A3561G:p.E1187E",NA,NA,NA,NA,NA,NA
chr11,4510537,4510537,C,T,P197462_S,OR52K1,Missense_Mutation,NM_001005171,exon1,c.C407T,p.T136M,SNP,SNVindel,exonic,OR52K1,NA,nonsynonymous SNV,OR52K1:NM_001005171:exon1:c.C407T:p.T136M,T,N,N,T,D,T
chr5,115783320,115783320,C,T,P197462_S,SEMA6A,Silent,NM_020796,exon19,c.G2082A,p.S694S,SNP,SNVindel,exonic,SEMA6A,NA,synonymous SNV,"SEMA6A:NM_020796:exon19:c.G2082A:p.S694S,SEMA6A:NM_001300780:exon20:c.G2133A:p.S711S",NA,NA,NA,NA,NA,NA
chr19,4512541,4512541,C,T,P197462_S,PLIN4,Silent,NM_001367868,exon5,c.G1431A,p.A477A,SNP,SNVindel,exonic,PLIN4,NA,synonymous SNV,PLIN4:NM_001367868:exon5:c.G1431A:p.A477A,NA,NA,NA,NA,NA,NA
chr2,86697366,86697366,T,A,P197462_S,KDM3A,Missense_Mutation,NM_001146688,exon11,c.T1559A,p.L520H,SNP,SNVindel,exonic,KDM3A,NA,nonsynonymous SNV,"KDM3A:NM_001146688:exon11:c.T1559A:p.L520H,KDM3A:NM_018433:exon11:c.T1559A:p.L520H",D,N,D,T,D,T
chr2,86697367,86697367,C,T,P197462_S,KDM3A,Silent,NM_001146688,exon11,c.C1560T,p.L520L,SNP,SNVindel,exonic,KDM3A,NA,synonymous SNV,"KDM3A:NM_001146688:exon11:c.C1560T:p.L520L,KDM3A:NM_018433:exon11:c.C1560T:p.L520L",NA,NA,NA,NA,NA,NA
chr12,51126212,51126212,G,A,P197462_S,DIP2B,Missense_Mutation,NM_173602,exon32,c.G3874A,p.V1292I,SNP,SNVindel,exonic,DIP2B,NA,nonsynonymous SNV,DIP2B:NM_173602:exon32:c.G3874A:p.V1292I,T,N,N,T,N,T
chr3,3030128,3030128,T,C,P197462_S,CNTN4,Silent,NM_001206956,exon5,c.T474C,p.A158A,SNP,SNVindel,exonic,CNTN4,NA,synonymous SNV,"CNTN4:NM_001206956:exon5:c.T474C:p.A158A,CNTN4:NM_175613:exon5:c.T474C:p.A158A,CNTN4:NM_001206955:exon13:c.T1458C:p.A486A,CNTN4:NM_001350095:exon14:c.T1458C:p.A486A,CNTN4:NM_175607:exon14:c.T1458C:p.A486A",NA,NA,NA,NA,NA,NA
chr7,128492997,128492997,C,T,P197462_S,FLNC,Silent,NM_001127487,exon36,c.C6021T,p.D2007D,SNP,SNVindel,exonic,FLNC,NA,synonymous SNV,"FLNC:NM_001127487:exon36:c.C6021T:p.D2007D,FLNC:NM_001458:exon37:c.C6120T:p.D2040D",NA,NA,NA,NA,NA,NA
chr14,65035067,65035067,G,T,P197462_S,PPP1R36,Missense_Mutation,NM_172365,exon7,c.G435T,p.R145S,SNP,SNVindel,exonic,PPP1R36,NA,nonsynonymous SNV,PPP1R36:NM_172365:exon7:c.G435T:p.R145S,T,N,D,T,N,T
chr2,25360314,25360314,C,T,P197462_S,EFR3B,Silent,NM_001319099,exon15,c.C1560T,p.I520I,SNP,SNVindel,exonic,EFR3B,NA,synonymous SNV,"EFR3B:NM_001319099:exon15:c.C1560T:p.I520I,EFR3B:NM_014971:exon15:c.C1665T:p.I555I",NA,NA,NA,NA,NA,NA
chr10,24908998,24908998,C,T,P197462_S,ARHGAP21,Missense_Mutation,NM_001367455,exon2,c.G1187A,p.R396Q,SNP,SNVindel,exonic,ARHGAP21,NA,nonsynonymous SNV,"ARHGAP21:NM_001367455:exon2:c.G1187A:p.R396Q,ARHGAP21:NM_001367452:exon6:c.G1355A:p.R452Q,ARHGAP21:NM_001367447:exon8:c.G1796A:p.R599Q,ARHGAP21:NM_001367451:exon8:c.G1796A:p.R599Q,ARHGAP21:NM_001367453:exon8:c.G1796A:p.R599Q,ARHGAP21:NM_001367448:exon9:c.G1826A:p.R609Q,ARHGAP21:NM_001367454:exon9:c.G1826A:p.R609Q,ARHGAP21:NM_020824:exon9:c.G1826A:p.R609Q,ARHGAP21:NM_001367449:exon10:c.G1532A:p.R511Q,ARHGAP21:NM_001367450:exon11:c.G1532A:p.R511Q",D,N,N,T,N,T
chr12,49982238,49982238,G,A,P197462_S,FAM186B,Missense_Mutation,NM_032130,exon6,c.C2533T,p.R845C,SNP,SNVindel,exonic,FAM186B,NA,nonsynonymous SNV,FAM186B:NM_032130:exon6:c.C2533T:p.R845C,T,N,N,T,D,T
chr3,128622934,128622934,A,C,P197462_S,ACAD9,Missense_Mutation,NM_014049,exon10,c.A988C,p.K330Q,SNP,SNVindel,exonic,ACAD9,NA,nonsynonymous SNV,ACAD9:NM_014049:exon10:c.A988C:p.K330Q,T,D,D,D,N,D
chr12,57870740,57870740,G,T,P197462_S,ARHGAP9,Missense_Mutation,NM_001080156,exon4,c.C325A,p.L109I,SNP,SNVindel,exonic,ARHGAP9,NA,nonsynonymous SNV,"ARHGAP9:NM_001080156:exon4:c.C325A:p.L109I,ARHGAP9:NM_001319852:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367422:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367424:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367426:exon4:c.C325A:p.L109I,ARHGAP9:NM_001080157:exon5:c.C877A:p.L293I,ARHGAP9:NM_032496:exon6:c.C877A:p.L293I,ARHGAP9:NM_001319850:exon9:c.C877A:p.L293I",T,N,N,T,N,T
chr16,23767738,23767738,G,T,P197462_S,CHP2,Missense_Mutation,NM_022097,exon5,c.G382T,p.D128Y,SNP,SNVindel,exonic,CHP2,NA,nonsynonymous SNV,CHP2:NM_022097:exon5:c.G382T:p.D128Y,D,D,D,T,D,D
chr9,13247672,13247672,G,A,P197462_S,MPDZ,Silent,NM_001261406,exon3,c.C145T,p.L49L,SNP,SNVindel,exonic,MPDZ,NA,synonymous SNV,"MPDZ:NM_001261406:exon3:c.C145T:p.L49L,MPDZ:NM_001261407:exon3:c.C145T:p.L49L,MPDZ:NM_001330637:exon3:c.C145T:p.L49L,MPDZ:NM_003829:exon3:c.C145T:p.L49L",NA,NA,NA,NA,NA,NA
chr2,100029254,100029254,C,T,P197462_S,REV1,Missense_Mutation,NM_001037872,exon13,c.G2108A,p.R703Q,SNP,SNVindel,exonic,REV1,NA,nonsynonymous SNV,"REV1:NM_001037872:exon13:c.G2108A:p.R703Q,REV1:NM_016316:exon13:c.G2111A:p.R704Q,REV1:NM_001321454:exon14:c.G2219A:p.R740Q,REV1:NM_001321455:exon14:c.G1898A:p.R633Q,REV1:NM_001321458:exon14:c.G641A:p.R214Q,REV1:NM_001321459:exon14:c.G542A:p.R181Q,REV1:NM_001321460:exon14:c.G542A:p.R181Q",T,D,D,T,N,T
chr16,67691194,67691194,C,T,P197462_S,CARMIL2,Silent,NM_001013838,exon37,c.C4170T,p.L1390L,SNP,SNVindel,exonic,CARMIL2,NA,synonymous SNV,"CARMIL2:NM_001013838:exon37:c.C4170T:p.L1390L,CARMIL2:NM_001317026:exon37:c.C3981T:p.L1327L",NA,NA,NA,NA,NA,NA
chr12,71960686,71960686,A,G,P197462_S,LGR5,Missense_Mutation,NM_001277226,exon10,c.A992G,p.Q331R,SNP,SNVindel,exonic,LGR5,NA,nonsynonymous SNV,"LGR5:NM_001277226:exon10:c.A992G:p.Q331R,LGR5:NM_001277227:exon10:c.A848G:p.Q283R,LGR5:NM_003667:exon11:c.A1064G:p.Q355R",T,N,D,T,N,T
chr2,149803531,149803531,C,T,P197462_S,KIF5C,Silent,NM_004522,exon8,c.C708T,p.S236S,SNP,SNVindel,exonic,KIF5C,NA,synonymous SNV,KIF5C:NM_004522:exon8:c.C708T:p.S236S,NA,NA,NA,NA,NA,NA
chr10,16960683,16960683,T,A,P197462_S,CUBN,Missense_Mutation,NM_001081,exon45,c.A6938T,p.Y2313F,SNP,SNVindel,exonic,CUBN,NA,nonsynonymous SNV,CUBN:NM_001081:exon45:c.A6938T:p.Y2313F,D,N,D,T,D,T
chr1,47016800,47016800,C,T,P197462_S,KNCN,Missense_Mutation,NM_001097611,exon1,c.G88A,p.G30S,SNP,SNVindel,exonic,KNCN,NA,nonsynonymous SNV,"KNCN:NM_001097611:exon1:c.G88A:p.G30S,KNCN:NM_001322255:exon1:c.G88A:p.G30S",D,.,N,T,D,T
chr1,161495338,161495338,C,A,P197462_S,HSPA6,Missense_Mutation,NM_002155,exon1,c.C890A,p.T297K,SNP,SNVindel,exonic,HSPA6,NA,nonsynonymous SNV,HSPA6:NM_002155:exon1:c.C890A:p.T297K,D,U,D,T,D,T
chr1,176903324,176903324,G,A,P197462_S,ASTN1,Missense_Mutation,NM_001286164,exon16,c.C2635T,p.R879W,SNP,SNVindel,exonic,ASTN1,NA,nonsynonymous SNV,"ASTN1:NM_001286164:exon16:c.C2635T:p.R879W,ASTN1:NM_001364856:exon16:c.C2659T:p.R887W,ASTN1:NM_004319:exon16:c.C2635T:p.R879W,ASTN1:NM_207108:exon16:c.C2635T:p.R879W",D,D,D,T,N,T
chr1,248112554,248112554,T,C,P197462_S,OR2L8,Missense_Mutation,NM_001001963,exon1,c.T395C,p.L132P,SNP,SNVindel,exonic,OR2L8,NA,nonsynonymous SNV,OR2L8:NM_001001963:exon1:c.T395C:p.L132P,T,N,N,T,N,T
chr2,209113112,209113112,C,T,P197462_S,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,238732959,238732959,C,T,P197462_S,RBM44,Silent,NM_001080504,exon10,c.C2349T,p.S783S,SNP,SNVindel,exonic,RBM44,NA,synonymous SNV,RBM44:NM_001080504:exon10:c.C2349T:p.S783S,NA,NA,NA,NA,NA,NA
chr3,73438996,73438996,G,A,P197462_S,PDZRN3,Missense_Mutation,NM_001303139,exon5,c.C481T,p.R161C,SNP,SNVindel,exonic,PDZRN3,NA,nonsynonymous SNV,"PDZRN3:NM_001303139:exon5:c.C481T:p.R161C,PDZRN3:NM_001303140:exon5:c.C358T:p.R120C,PDZRN3:NM_001303141:exon5:c.C553T:p.R185C,PDZRN3:NM_001303142:exon5:c.C538T:p.R180C,PDZRN3:NM_015009:exon7:c.C1387T:p.R463C",D,D,D,T,D,D
chr3,129304822,129304822,G,A,P197462_S,PLXND1,Silent,NM_015103,exon5,c.C1824T,p.S608S,SNP,SNVindel,exonic,PLXND1,NA,synonymous SNV,PLXND1:NM_015103:exon5:c.C1824T:p.S608S,NA,NA,NA,NA,NA,NA
chr3,195451810,195451810,A,C,P197462_S,MUC20,Silent,NM_001282506,exon2,c.A336C,p.T112T,SNP,SNVindel,exonic,MUC20,NA,synonymous SNV,"MUC20:NM_001282506:exon2:c.A336C:p.T112T,MUC20:NM_001291833:exon2:c.A336C:p.T112T,MUC20:NM_020790:exon2:c.A336C:p.T112T,MUC20:NM_152673:exon2:c.A336C:p.T112T",NA,NA,NA,NA,NA,NA
chr3,196744089,196744089,C,T,P197462_S,MELTF,Missense_Mutation,NM_005929,exon7,c.G785A,p.R262Q,SNP,SNVindel,exonic,MELTF,NA,nonsynonymous SNV,MELTF:NM_005929:exon7:c.G785A:p.R262Q,T,N,N,T,D,T
chr5,42719441,42719441,C,T,P197462_S,GHR,Missense_Mutation,NM_001242460,exon8,c.C1766T,p.A589V,SNP,SNVindel,exonic,GHR,NA,nonsynonymous SNV,"GHR:NM_001242460:exon8:c.C1766T:p.A589V,GHR:NM_001242406:exon9:c.C1832T:p.A611V,GHR:NM_000163:exon10:c.C1832T:p.A611V,GHR:NM_001242399:exon10:c.C1853T:p.A618V,GHR:NM_001242402:exon10:c.C1832T:p.A611V,GHR:NM_001242403:exon10:c.C1832T:p.A611V,GHR:NM_001242404:exon10:c.C1832T:p.A611V,GHR:NM_001242405:exon10:c.C1832T:p.A611V,GHR:NM_001242400:exon11:c.C1832T:p.A611V,GHR:NM_001242401:exon11:c.C1832T:p.A611V",D,D,D,T,N,T
chr5,150660599,150660599,G,A,P197462_S,SLC36A3,Missense_Mutation,NM_181774,exon9,c.C1120T,p.R374C,SNP,SNVindel,exonic,SLC36A3,NA,nonsynonymous SNV,"SLC36A3:NM_181774:exon9:c.C1120T:p.R374C,SLC36A3:NM_001145017:exon10:c.C1243T:p.R415C",D,D,D,T,D,T
chr5,176958509,176958509,G,A,P197462_S,FAM193B,Missense_Mutation,NM_001366500,exon6,c.C950T,p.P317L,SNP,SNVindel,exonic,FAM193B,NA,nonsynonymous SNV,FAM193B:NM_001366500:exon6:c.C950T:p.P317L,NA,NA,NA,NA,NA,NA
chr6,73787158,73787158,C,T,P197462_S,KCNQ5,Missense_Mutation,NM_001160130,exon4,c.C730T,p.R244C,SNP,SNVindel,exonic,KCNQ5,NA,nonsynonymous SNV,"KCNQ5:NM_001160130:exon4:c.C730T:p.R244C,KCNQ5:NM_001160132:exon4:c.C730T:p.R244C,KCNQ5:NM_001160133:exon4:c.C730T:p.R244C,KCNQ5:NM_001160134:exon4:c.C730T:p.R244C,KCNQ5:NM_019842:exon4:c.C730T:p.R244C",D,D,D,D,D,D
chr6,78173085,78173085,C,T,P197462_S,HTR1B,Silent,NM_000863,exon1,c.G36A,p.P12P,SNP,SNVindel,exonic,HTR1B,NA,synonymous SNV,HTR1B:NM_000863:exon1:c.G36A:p.P12P,NA,NA,NA,NA,NA,NA
chr8,139774703,139774703,G,A,P197462_S,COL22A1,Nonsense_Mutation,NM_152888,exon17,c.C1810T,p.R604X,SNP,SNVindel,exonic,COL22A1,NA,stopgain,COL22A1:NM_152888:exon17:c.C1810T:p.R604X,.,U,A,.,.,.
chr9,139944736,139944736,C,G,P197462_S,ENTPD2,Silent,NM_001246,exon6,c.G1029C,p.V343V,SNP,SNVindel,exonic,ENTPD2,NA,synonymous SNV,"ENTPD2:NM_001246:exon6:c.G1029C:p.V343V,ENTPD2:NM_203468:exon6:c.G1029C:p.V343V",NA,NA,NA,NA,NA,NA
chr10,15255122,15255122,C,T,P197462_S,FAM171A1,Missense_Mutation,NM_001010924,exon8,c.G2465A,p.R822Q,SNP,SNVindel,exonic,FAM171A1,NA,nonsynonymous SNV,FAM171A1:NM_001010924:exon8:c.G2465A:p.R822Q,T,N,D,T,N,T
chr10,73767342,73767342,G,A,P197462_S,CHST3,Missense_Mutation,NM_004273,exon3,c.G553A,p.A185T,SNP,SNVindel,exonic,CHST3,NA,nonsynonymous SNV,CHST3:NM_004273:exon3:c.G553A:p.A185T,T,N,D,D,N,D
chr11,1271333,1271333,C,T,P197462_S,MUC5B,Missense_Mutation,NM_002458,exon31,c.C13223T,p.T4408M,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.C13223T:p.T4408M,T,.,N,T,N,T
chr11,57472445,57472445,C,T,P197462_S,MED19,Silent,NM_001317078,exon2,c.G525A,p.P175P,SNP,SNVindel,exonic,MED19,NA,synonymous SNV,"MED19:NM_001317078:exon2:c.G525A:p.P175P,MED19:NM_153450:exon2:c.G474A:p.P158P",NA,NA,NA,NA,NA,NA
chr11,61897513,61897513,G,A,P197462_S,INCENP,Missense_Mutation,NM_001040694,exon4,c.G514A,p.G172S,SNP,SNVindel,exonic,INCENP,NA,nonsynonymous SNV,"INCENP:NM_001040694:exon4:c.G514A:p.G172S,INCENP:NM_020238:exon4:c.G514A:p.G172S",T,N,N,T,N,T
chr11,75511452,75511452,G,A,P197462_S,DGAT2,Missense_Mutation,NM_001253891,exon7,c.G937A,p.D313N,SNP,SNVindel,exonic,DGAT2,NA,nonsynonymous SNV,"DGAT2:NM_001253891:exon7:c.G937A:p.D313N,DGAT2:NM_032564:exon8:c.G1066A:p.D356N",T,D,D,T,D,T
chr12,1992139,1992139,G,A,P197462_S,CACNA2D4,Missense_Mutation,NM_172364,exon13,c.C1379T,p.A460V,SNP,SNVindel,exonic,CACNA2D4,NA,nonsynonymous SNV,CACNA2D4:NM_172364:exon13:c.C1379T:p.A460V,D,D,D,T,D,T
chr12,31244748,31244748,G,A,P197462_S,DDX11,Silent,NM_001257144,exon10,c.G1185A,p.A395A,SNP,SNVindel,exonic,DDX11,NA,synonymous SNV,"DDX11:NM_001257144:exon10:c.G1185A:p.A395A,DDX11:NM_001257145:exon10:c.G1107A:p.A369A,DDX11:NM_004399:exon10:c.G1185A:p.A395A,DDX11:NM_030653:exon10:c.G1185A:p.A395A,DDX11:NM_152438:exon10:c.G1185A:p.A395A",NA,NA,NA,NA,NA,NA
chr12,44161948,44161948,C,T,P197462_S,IRAK4,Missense_Mutation,NM_016123,exon2,c.C34T,p.R12C,SNP,SNVindel,exonic,IRAK4,NA,nonsynonymous SNV,"IRAK4:NM_016123:exon2:c.C34T:p.R12C,IRAK4:NM_001114182:exon3:c.C34T:p.R12C,IRAK4:NM_001351345:exon3:c.C34T:p.R12C",D,D,D,T,D,D
chr14,20404272,20404272,G,T,P197462_S,OR4K1,Missense_Mutation,NM_001004063,exon1,c.G447T,p.W149C,SNP,SNVindel,exonic,OR4K1,NA,nonsynonymous SNV,OR4K1:NM_001004063:exon1:c.G447T:p.W149C,D,D,D,T,D,T
chr14,26917671,26917671,C,T,P197462_S,NOVA1,Missense_Mutation,NM_001366394,exon4,c.G835A,p.A279T,SNP,SNVindel,exonic,NOVA1,NA,nonsynonymous SNV,"NOVA1:NM_001366394:exon4:c.G835A:p.A279T,NOVA1:NM_001366397:exon4:c.G580A:p.A194T,NOVA1:NM_006489:exon4:c.G946A:p.A316T,NOVA1:NM_001366390:exon5:c.G580A:p.A194T,NOVA1:NM_001366392:exon5:c.G1015A:p.A339T,NOVA1:NM_001366393:exon5:c.G907A:p.A303T,NOVA1:NM_001366398:exon5:c.G652A:p.A218T,NOVA1:NM_002515:exon5:c.G1018A:p.A340T,NOVA1:NM_001366391:exon6:c.G652A:p.A218T,NOVA1:NM_001366395:exon6:c.G652A:p.A218T,NOVA1:NM_001366396:exon6:c.G652A:p.A218T",T,D,D,T,N,T
chr14,30066894,30066894,G,A,P197462_S,PRKD1,Missense_Mutation,NM_002742,exon16,c.C2237T,p.T746I,SNP,SNVindel,exonic,PRKD1,NA,nonsynonymous SNV,"PRKD1:NM_002742:exon16:c.C2237T:p.T746I,PRKD1:NM_001330069:exon17:c.C2261T:p.T754I,PRKD1:NM_001348390:exon17:c.C1973T:p.T658I",D,D,D,D,D,D
chr14,42360832,42360832,G,A,P197462_S,LRFN5,Missense_Mutation,NM_001346173,exon3,c.G1765A,p.V589M,SNP,SNVindel,exonic,LRFN5,NA,nonsynonymous SNV,"LRFN5:NM_001346173:exon3:c.G1765A:p.V589M,LRFN5:NM_152447:exon4:c.G1765A:p.V589M",T,N,D,T,N,T
chr14,102912270,102912270,G,A,P197462_S,TECPR2,Missense_Mutation,NM_001172631,exon13,c.G3061A,p.D1021N,SNP,SNVindel,exonic,TECPR2,NA,nonsynonymous SNV,"TECPR2:NM_001172631:exon13:c.G3061A:p.D1021N,TECPR2:NM_014844:exon13:c.G3061A:p.D1021N",T,N,D,T,N,T
chr15,40591069,40591069,C,T,P197462_S,PLCB2,Silent,NM_001284297,exon9,c.G780A,p.P260P,SNP,SNVindel,exonic,PLCB2,NA,synonymous SNV,"PLCB2:NM_001284297:exon9:c.G780A:p.P260P,PLCB2:NM_001284298:exon9:c.G780A:p.P260P,PLCB2:NM_004573:exon9:c.G780A:p.P260P",NA,NA,NA,NA,NA,NA
chr15,86311280,86311280,G,A,P197462_S,KLHL25,Missense_Mutation,NM_022480,exon2,c.C1762T,p.P588S,SNP,SNVindel,exonic,KLHL25,NA,nonsynonymous SNV,KLHL25:NM_022480:exon2:c.C1762T:p.P588S,T,D,D,T,N,T
chr17,7577538,7577538,C,T,P197462_S,TP53,Missense_Mutation,NM_001126115,exon3,c.G347A,p.R116Q,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon3:c.G347A:p.R116Q,TP53:NM_001126116:exon3:c.G347A:p.R116Q,TP53:NM_001126117:exon3:c.G347A:p.R116Q,TP53:NM_001276697:exon3:c.G266A:p.R89Q,TP53:NM_001276698:exon3:c.G266A:p.R89Q,TP53:NM_001276699:exon3:c.G266A:p.R89Q,TP53:NM_001126118:exon6:c.G626A:p.R209Q,TP53:NM_000546:exon7:c.G743A:p.R248Q,TP53:NM_001126112:exon7:c.G743A:p.R248Q,TP53:NM_001126113:exon7:c.G743A:p.R248Q,TP53:NM_001126114:exon7:c.G743A:p.R248Q,TP53:NM_001276695:exon7:c.G626A:p.R209Q,TP53:NM_001276696:exon7:c.G626A:p.R209Q,TP53:NM_001276760:exon7:c.G626A:p.R209Q,TP53:NM_001276761:exon7:c.G626A:p.R209Q",D,D,A,D,D,D
chr17,11774938,11774938,C,T,P197462_S,DNAH9,Silent,NM_001372,exon52,c.C10077T,p.N3359N,SNP,SNVindel,exonic,DNAH9,NA,synonymous SNV,DNAH9:NM_001372:exon52:c.C10077T:p.N3359N,NA,NA,NA,NA,NA,NA
chr17,73830485,73830485,G,A,P197462_S,UNC13D,Missense_Mutation,NM_199242,exon23,c.C2219T,p.T740M,SNP,SNVindel,exonic,UNC13D,NA,nonsynonymous SNV,UNC13D:NM_199242:exon23:c.C2219T:p.T740M,D,D,D,T,N,D
chr19,7589892,7589892,C,T,P197462_S,MCOLN1,Missense_Mutation,NM_020533,exon2,c.C77T,p.A26V,SNP,SNVindel,exonic,MCOLN1,NA,nonsynonymous SNV,MCOLN1:NM_020533:exon2:c.C77T:p.A26V,T,N,N,D,N,T
chr19,19765378,19765378,G,A,P197462_S,ATP13A1,Missense_Mutation,NM_020410,exon13,c.C1787T,p.T596M,SNP,SNVindel,exonic,ATP13A1,NA,nonsynonymous SNV,ATP13A1:NM_020410:exon13:c.C1787T:p.T596M,T,N,D,T,N,T
chr19,33490500,33490500,C,T,P197462_S,RHPN2,Missense_Mutation,NM_033103,exon10,c.G1217A,p.R406Q,SNP,SNVindel,exonic,RHPN2,NA,nonsynonymous SNV,RHPN2:NM_033103:exon10:c.G1217A:p.R406Q,T,N,N,T,N,T
chr19,49967402,49967402,G,A,P197462_S,ALDH16A1,Missense_Mutation,NM_001145396,exon9,c.G1060A,p.V354M,SNP,SNVindel,exonic,ALDH16A1,NA,nonsynonymous SNV,"ALDH16A1:NM_001145396:exon9:c.G1060A:p.V354M,ALDH16A1:NM_153329:exon10:c.G1213A:p.V405M",T,N,N,T,N,T
chr20,1209230,1209230,C,A,P197462_S,RAD21L1,Missense_Mutation,NM_001136566,exon2,c.C133A,p.L45I,SNP,SNVindel,exonic,RAD21L1,NA,nonsynonymous SNV,RAD21L1:NM_001136566:exon2:c.C133A:p.L45I,T,N,N,T,N,T
chr20,37394936,37394936,G,A,P197462_S,ACTR5,Missense_Mutation,NM_024855,exon7,c.G1349A,p.R450Q,SNP,SNVindel,exonic,ACTR5,NA,nonsynonymous SNV,ACTR5:NM_024855:exon7:c.G1349A:p.R450Q,D,D,D,D,D,D
chr1,16891333,16891333,C,T,P237167_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,17270751,17270751,G,A,P237167_F,CROCC,Silent,NM_014675,exon14,c.G1965A,p.A655A,SNP,SNVindel,exonic,CROCC,NA,synonymous SNV,CROCC:NM_014675:exon14:c.G1965A:p.A655A,NA,NA,NA,NA,NA,NA
chr1,175086284,175086284,G,A,P237167_F,TNN,Missense_Mutation,NM_022093,exon10,c.G2329A,p.V777M,SNP,SNVindel,exonic,TNN,NA,nonsynonymous SNV,TNN:NM_022093:exon10:c.G2329A:p.V777M,D,N,D,T,N,D
chr1,207265063,207265063,A,G,P237167_F,C4BPB,Missense_Mutation,NM_000716,exon3,c.A307G,p.I103V,SNP,SNVindel,exonic,C4BPB,NA,nonsynonymous SNV,"C4BPB:NM_000716:exon3:c.A307G:p.I103V,C4BPB:NM_001017364:exon3:c.A304G:p.I102V,C4BPB:NM_001017365:exon4:c.A307G:p.I103V,C4BPB:NM_001017366:exon4:c.A304G:p.I102V,C4BPB:NM_001017367:exon4:c.A307G:p.I103V",T,N,N,T,N,T
chr1,228109615,228109615,C,T,P237167_F,WNT9A,Silent,NM_003395,exon4,c.G702A,p.A234A,SNP,SNVindel,exonic,WNT9A,NA,synonymous SNV,WNT9A:NM_003395:exon4:c.G702A:p.A234A,NA,NA,NA,NA,NA,NA
chr1,232649890,232649890,T,A,P237167_F,SIPA1L2,Missense_Mutation,NM_020808,exon1,c.A1196T,p.D399V,SNP,SNVindel,exonic,SIPA1L2,NA,nonsynonymous SNV,SIPA1L2:NM_020808:exon1:c.A1196T:p.D399V,D,D,D,D,D,D
chr2,84800622,84800622,G,A,P237167_F,DNAH6,Missense_Mutation,NM_001370,exon12,c.G1835A,p.R612H,SNP,SNVindel,exonic,DNAH6,NA,nonsynonymous SNV,DNAH6:NM_001370:exon12:c.G1835A:p.R612H,T,N,N,T,N,T
chr2,130872871,130872871,C,T,P237167_F,POTEF,Silent,NM_001099771,exon4,c.G552A,p.G184G,SNP,SNVindel,exonic,POTEF,NA,synonymous SNV,POTEF:NM_001099771:exon4:c.G552A:p.G184G,NA,NA,NA,NA,NA,NA
chr2,163256855,163256855,T,C,P237167_F,KCNH7,Missense_Mutation,NM_033272,exon10,c.A2251G,p.K751E,SNP,SNVindel,exonic,KCNH7,NA,nonsynonymous SNV,KCNH7:NM_033272:exon10:c.A2251G:p.K751E,T,D,D,D,D,D
chr2,179582354,179582354,G,C,P237167_F,TTN,Missense_Mutation,NM_133378,exon84,c.C21515G,p.T7172S,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon84:c.C21515G:p.T7172S,TTN:NM_001256850:exon85:c.C24296G:p.T8099S,TTN:NM_001267550:exon87:c.C25247G:p.T8416S",T,.,D,T,N,T
chr2,207171874,207171874,G,A,P237167_F,ZDBF2,Silent,NM_020923,exon5,c.G2622A,p.S874S,SNP,SNVindel,exonic,ZDBF2,NA,synonymous SNV,"ZDBF2:NM_020923:exon5:c.G2622A:p.S874S,ZDBF2:NM_001369654:exon6:c.G2622A:p.S874S,ZDBF2:NM_001285549:exon7:c.G2616A:p.S872S",NA,NA,NA,NA,NA,NA
chr2,209113112,209113112,C,T,P237167_F,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,227872085,227872085,G,A,P237167_F,COL4A4,Missense_Mutation,NM_000092,exon48,c.C5029T,p.R1677C,SNP,SNVindel,exonic,COL4A4,NA,nonsynonymous SNV,COL4A4:NM_000092:exon48:c.C5029T:p.R1677C,D,.,D,D,D,D
chr3,49161853,49161853,C,T,P237167_F,LAMB2,Missense_Mutation,NM_002292,exon22,c.G3302A,p.R1101Q,SNP,SNVindel,exonic,LAMB2,NA,nonsynonymous SNV,LAMB2:NM_002292:exon22:c.G3302A:p.R1101Q,T,N,N,T,N,T
chr3,97454953,97454953,A,G,P237167_F,EPHA6,Missense_Mutation,NM_001080448,exon16,c.A3119G,p.D1040G,SNP,SNVindel,exonic,EPHA6,NA,nonsynonymous SNV,EPHA6:NM_001080448:exon16:c.A3119G:p.D1040G,T,.,D,T,N,T
chr6,47846507,47846507,G,A,P237167_F,PTCHD4,Silent,NM_001013732,exon3,c.C2073T,p.S691S,SNP,SNVindel,exonic,PTCHD4,NA,synonymous SNV,PTCHD4:NM_001013732:exon3:c.C2073T:p.S691S,NA,NA,NA,NA,NA,NA
chr7,37936527,37936527,C,T,P237167_F,NME8,Nonsense_Mutation,NM_016616,exon17,c.C1600T,p.R534X,SNP,SNVindel,exonic,NME8,NA,stopgain,NME8:NM_016616:exon17:c.C1600T:p.R534X,.,N,D,.,.,.
chr7,142565775,142565775,C,T,P237167_F,EPHB6,Missense_Mutation,NM_001280795,exon9,c.C1010T,p.T337M,SNP,SNVindel,exonic,EPHB6,NA,nonsynonymous SNV,"EPHB6:NM_001280795:exon9:c.C1010T:p.T337M,EPHB6:NM_001280794:exon12:c.C1010T:p.T337M,EPHB6:NM_004445:exon13:c.C1886T:p.T629M",.,.,N,.,.,.
chr8,42176825,42176825,A,G,P237167_F,IKBKB,Missense_Mutation,NM_001190720,exon13,c.A1396G,p.M466V,SNP,SNVindel,exonic,IKBKB,NA,nonsynonymous SNV,"IKBKB:NM_001190720:exon13:c.A1396G:p.M466V,IKBKB:NM_001242778:exon13:c.A1225G:p.M409V,IKBKB:NM_001556:exon14:c.A1402G:p.M468V",D,D,D,T,N,T
chr8,144808747,144808747,G,A,P237167_F,FAM83H,Silent,NM_198488,exon5,c.C2884T,p.L962L,SNP,SNVindel,exonic,FAM83H,NA,synonymous SNV,FAM83H:NM_198488:exon5:c.C2884T:p.L962L,NA,NA,NA,NA,NA,NA
chr8,145113286,145113286,G,A,P237167_F,OPLAH,Missense_Mutation,NM_017570,exon7,c.C805T,p.R269C,SNP,SNVindel,exonic,OPLAH,NA,nonsynonymous SNV,OPLAH:NM_017570:exon7:c.C805T:p.R269C,.,D,.,.,.,T
chr10,133947007,133947007,C,T,P237167_F,JAKMIP3,Silent,NM_001105521,exon4,c.C825T,p.D275D,SNP,SNVindel,exonic,JAKMIP3,NA,synonymous SNV,"JAKMIP3:NM_001105521:exon4:c.C825T:p.D275D,JAKMIP3:NM_001323086:exon4:c.C825T:p.D275D,JAKMIP3:NM_001323087:exon4:c.C825T:p.D275D,JAKMIP3:NM_001323088:exon4:c.C825T:p.D275D,JAKMIP3:NM_001323090:exon4:c.C825T:p.D275D",NA,NA,NA,NA,NA,NA
chr11,6221345,6221345,T,C,P237167_F,OR52W1,Missense_Mutation,NM_001005178,exon1,c.T892C,p.Y298H,SNP,SNVindel,exonic,OR52W1,NA,nonsynonymous SNV,OR52W1:NM_001005178:exon1:c.T892C:p.Y298H,D,N,D,T,D,D
chr11,102663458,102663458,C,T,P237167_F,MMP1,Missense_Mutation,NM_001145938,exon7,c.G713A,p.R238H,SNP,SNVindel,exonic,MMP1,NA,nonsynonymous SNV,"MMP1:NM_001145938:exon7:c.G713A:p.R238H,MMP1:NM_002421:exon7:c.G911A:p.R304H",D,D,D,T,D,T
chr11,123901064,123901064,C,T,P237167_F,OR10G8,Silent,NM_001004464,exon1,c.C735T,p.I245I,SNP,SNVindel,exonic,OR10G8,NA,synonymous SNV,OR10G8:NM_001004464:exon1:c.C735T:p.I245I,NA,NA,NA,NA,NA,NA
chr12,49994016,49994016,C,T,P237167_F,FAM186B,Silent,NM_032130,exon4,c.G1407A,p.R469R,SNP,SNVindel,exonic,FAM186B,NA,synonymous SNV,FAM186B:NM_032130:exon4:c.G1407A:p.R469R,NA,NA,NA,NA,NA,NA
chr12,67675751,67675751,G,T,P237167_F,CAND1,Missense_Mutation,NM_018448,exon2,c.G130T,p.D44Y,SNP,SNVindel,exonic,CAND1,NA,nonsynonymous SNV,"CAND1:NM_018448:exon2:c.G130T:p.D44Y,CAND1:NM_001329674:exon3:c.G58T:p.D20Y,CAND1:NM_001329675:exon3:c.G58T:p.D20Y",D,D,D,T,D,T
chr13,20277439,20277439,G,C,P237167_F,PSPC1,Missense_Mutation,NM_001354909,exon9,c.C1448G,p.T483R,SNP,SNVindel,exonic,PSPC1,NA,nonsynonymous SNV,"PSPC1:NM_001354909:exon9:c.C1448G:p.T483R,PSPC1:NM_001042414:exon10:c.C1448G:p.T483R",T,D,D,T,N,T
chr14,21991506,21991506,T,C,P237167_F,SALL2,Missense_Mutation,NM_001364564,exon2,c.A2350G,p.R784G,SNP,SNVindel,exonic,SALL2,NA,nonsynonymous SNV,"SALL2:NM_001364564:exon2:c.A2350G:p.R784G,SALL2:NM_005407:exon2:c.A2356G:p.R786G,SALL2:NM_001291446:exon3:c.A1951G:p.R651G,SALL2:NM_001291447:exon3:c.A1945G:p.R649G",D,D,D,T,N,T
chr15,37002053,37002053,T,A,P237167_F,C15orf41,Missense_Mutation,NM_001321761,exon10,c.T625A,p.L209I,SNP,SNVindel,exonic,C15orf41,NA,nonsynonymous SNV,C15orf41:NM_001321761:exon10:c.T625A:p.L209I,T,.,D,T,N,.
chr15,94899447,94899447,T,C,P237167_F,MCTP2,Silent,NM_001159643,exon8,c.T1087C,p.L363L,SNP,SNVindel,exonic,MCTP2,NA,synonymous SNV,"MCTP2:NM_001159643:exon8:c.T1087C:p.L363L,MCTP2:NM_018349:exon8:c.T1087C:p.L363L",NA,NA,NA,NA,NA,NA
chr16,20423000,20423000,G,A,P237167_F,ACSM5,Missense_Mutation,NM_001324371,exon2,c.G194A,p.R65Q,SNP,SNVindel,exonic,ACSM5,NA,nonsynonymous SNV,"ACSM5:NM_001324371:exon2:c.G194A:p.R65Q,ACSM5:NM_001324372:exon2:c.G194A:p.R65Q,ACSM5:NM_001324373:exon2:c.G194A:p.R65Q,ACSM5:NM_017888:exon2:c.G194A:p.R65Q",T,N,P,T,N,T
chr16,21847742,21847742,A,G,P237167_F,NPIPB4,Missense_Mutation,NM_001310148,exon8,c.T1966C,p.Y656H,SNP,SNVindel,exonic,NPIPB4,NA,nonsynonymous SNV,NPIPB4:NM_001310148:exon8:c.T1966C:p.Y656H,T,.,.,T,N,T
chr17,7578235,7578235,T,C,P237167_F,TP53,Missense_Mutation,NM_001126115,exon2,c.A218G,p.Y73C,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon2:c.A218G:p.Y73C,TP53:NM_001126116:exon2:c.A218G:p.Y73C,TP53:NM_001126117:exon2:c.A218G:p.Y73C,TP53:NM_001276697:exon2:c.A137G:p.Y46C,TP53:NM_001276698:exon2:c.A137G:p.Y46C,TP53:NM_001276699:exon2:c.A137G:p.Y46C,TP53:NM_001126118:exon5:c.A497G:p.Y166C,TP53:NM_000546:exon6:c.A614G:p.Y205C,TP53:NM_001126112:exon6:c.A614G:p.Y205C,TP53:NM_001126113:exon6:c.A614G:p.Y205C,TP53:NM_001126114:exon6:c.A614G:p.Y205C,TP53:NM_001276695:exon6:c.A497G:p.Y166C,TP53:NM_001276696:exon6:c.A497G:p.Y166C,TP53:NM_001276760:exon6:c.A497G:p.Y166C,TP53:NM_001276761:exon6:c.A497G:p.Y166C",D,D,D,D,D,D
chr17,39280265,39280265,C,T,P237167_F,KRTAP4-12,Missense_Mutation,NM_031854,exon1,c.G110A,p.R37H,SNP,SNVindel,exonic,KRTAP4-12,NA,nonsynonymous SNV,KRTAP4-12:NM_031854:exon1:c.G110A:p.R37H,D,U,N,T,D,T
chr17,39643660,39643660,G,A,P237167_F,KRT36,Silent,NM_003771,exon5,c.C930T,p.I310I,SNP,SNVindel,exonic,KRT36,NA,synonymous SNV,KRT36:NM_003771:exon5:c.C930T:p.I310I,NA,NA,NA,NA,NA,NA
chr18,34324134,34324134,G,A,P237167_F,FHOD3,Missense_Mutation,NM_001281739,exon19,c.G3443A,p.G1148E,SNP,SNVindel,exonic,FHOD3,NA,nonsynonymous SNV,"FHOD3:NM_001281739:exon19:c.G3443A:p.G1148E,FHOD3:NM_025135:exon20:c.G3494A:p.G1165E,FHOD3:NM_001281740:exon23:c.G4019A:p.G1340E",D,D,D,T,D,T
chr19,37903593,37903593,T,C,P237167_F,ZNF569,Missense_Mutation,NM_001330482,exon5,c.A1490G,p.H497R,SNP,SNVindel,exonic,ZNF569,NA,nonsynonymous SNV,"ZNF569:NM_001330482:exon5:c.A1490G:p.H497R,ZNF569:NM_152484:exon6:c.A1967G:p.H656R",D,N,D,T,D,D
chr20,44044835,44044835,G,A,P237167_F,PIGT,Silent,NM_001184728,exon1,c.G39A,p.L13L,SNP,SNVindel,exonic,PIGT,NA,synonymous SNV,"PIGT:NM_001184728:exon1:c.G39A:p.L13L,PIGT:NM_001184729:exon1:c.G39A:p.L13L,PIGT:NM_001184730:exon1:c.G39A:p.L13L,PIGT:NM_015937:exon1:c.G39A:p.L13L",NA,NA,NA,NA,NA,NA
chrX,37027623,37027623,G,A,P237167_F,FAM47C,Silent,NM_001013736,exon1,c.G1140A,p.P380P,SNP,SNVindel,exonic,FAM47C,NA,synonymous SNV,FAM47C:NM_001013736:exon1:c.G1140A:p.P380P,NA,NA,NA,NA,NA,NA
chr1,17270751,17270751,G,A,P237167_S,CROCC,Silent,NM_014675,exon14,c.G1965A,p.A655A,SNP,SNVindel,exonic,CROCC,NA,synonymous SNV,CROCC:NM_014675:exon14:c.G1965A:p.A655A,NA,NA,NA,NA,NA,NA
chr1,19282581,19282581,C,T,P237167_S,IFFO2,Silent,NM_001136265,exon1,c.G246A,p.E82E,SNP,SNVindel,exonic,IFFO2,NA,synonymous SNV,IFFO2:NM_001136265:exon1:c.G246A:p.E82E,NA,NA,NA,NA,NA,NA
chr1,43108260,43108260,G,A,P237167_S,CCDC30,Silent,NM_001080850,exon13,c.G1755A,p.T585T,SNP,SNVindel,exonic,CCDC30,NA,synonymous SNV,"CCDC30:NM_001080850:exon13:c.G1755A:p.T585T,CCDC30:NM_001355226:exon15:c.G849A:p.T283T,CCDC30:NM_001355227:exon16:c.G849A:p.T283T,CCDC30:NM_001355224:exon19:c.G849A:p.T283T",NA,NA,NA,NA,NA,NA
chr1,44446831,44446831,G,T,P237167_S,B4GALT2,Missense_Mutation,NM_030587,exon2,c.G86T,p.G29V,SNP,SNVindel,exonic,B4GALT2,NA,nonsynonymous SNV,B4GALT2:NM_030587:exon2:c.G86T:p.G29V,D,.,D,T,N,T
chr1,47610407,47610407,C,T,P237167_S,CYP4A22,Silent,NM_001010969,exon8,c.C1083T,p.I361I,SNP,SNVindel,exonic,CYP4A22,NA,synonymous SNV,CYP4A22:NM_001010969:exon8:c.C1083T:p.I361I,NA,NA,NA,NA,NA,NA
chr1,55271839,55271839,G,A,P237167_S,LEXM,Missense_Mutation,NM_001110533,exon1,c.G50A,p.G17D,SNP,SNVindel,exonic,LEXM,NA,nonsynonymous SNV,"LEXM:NM_001110533:exon1:c.G50A:p.G17D,LEXM:NM_152607:exon1:c.G50A:p.G17D",T,N,N,T,N,T
chr1,150531158,150531158,C,T,P237167_S,ADAMTSL4,Silent,NM_025008,exon15,c.C2592T,p.I864I,SNP,SNVindel,exonic,ADAMTSL4,NA,synonymous SNV,ADAMTSL4:NM_025008:exon15:c.C2592T:p.I864I,NA,NA,NA,NA,NA,NA
chr1,160062760,160062760,T,C,P237167_S,IGSF8,Silent,NM_001320247,exon4,c.A1266G,p.A422A,SNP,SNVindel,exonic,IGSF8,NA,synonymous SNV,"IGSF8:NM_001320247:exon4:c.A1266G:p.A422A,IGSF8:NM_052868:exon4:c.A1266G:p.A422A,IGSF8:NM_001206665:exon5:c.A1266G:p.A422A",NA,NA,NA,NA,NA,NA
chr1,175086284,175086284,G,A,P237167_S,TNN,Missense_Mutation,NM_022093,exon10,c.G2329A,p.V777M,SNP,SNVindel,exonic,TNN,NA,nonsynonymous SNV,TNN:NM_022093:exon10:c.G2329A:p.V777M,D,N,D,T,N,D
chr1,179319480,179319480,T,C,P237167_S,SOAT1,Missense_Mutation,NM_001252511,exon13,c.T1190C,p.V397A,SNP,SNVindel,exonic,SOAT1,NA,nonsynonymous SNV,"SOAT1:NM_001252511:exon13:c.T1190C:p.V397A,SOAT1:NM_001252512:exon13:c.T1169C:p.V390A,SOAT1:NM_003101:exon14:c.T1364C:p.V455A",D,N,N,T,D,T
chr1,207265063,207265063,A,G,P237167_S,C4BPB,Missense_Mutation,NM_000716,exon3,c.A307G,p.I103V,SNP,SNVindel,exonic,C4BPB,NA,nonsynonymous SNV,"C4BPB:NM_000716:exon3:c.A307G:p.I103V,C4BPB:NM_001017364:exon3:c.A304G:p.I102V,C4BPB:NM_001017365:exon4:c.A307G:p.I103V,C4BPB:NM_001017366:exon4:c.A304G:p.I102V,C4BPB:NM_001017367:exon4:c.A307G:p.I103V",T,N,N,T,N,T
chr1,216262370,216262370,C,T,P237167_S,USH2A,Missense_Mutation,NM_206933,exon23,c.G4870A,p.D1624N,SNP,SNVindel,exonic,USH2A,NA,nonsynonymous SNV,USH2A:NM_206933:exon23:c.G4870A:p.D1624N,D,D,D,D,D,D
chr1,228109615,228109615,C,T,P237167_S,WNT9A,Silent,NM_003395,exon4,c.G702A,p.A234A,SNP,SNVindel,exonic,WNT9A,NA,synonymous SNV,WNT9A:NM_003395:exon4:c.G702A:p.A234A,NA,NA,NA,NA,NA,NA
chr1,232649890,232649890,T,A,P237167_S,SIPA1L2,Missense_Mutation,NM_020808,exon1,c.A1196T,p.D399V,SNP,SNVindel,exonic,SIPA1L2,NA,nonsynonymous SNV,SIPA1L2:NM_020808:exon1:c.A1196T:p.D399V,D,D,D,D,D,D
chr2,26703122,26703122,T,C,P237167_S,OTOF,Missense_Mutation,NM_001287489,exon16,c.A1861G,p.M621V,SNP,SNVindel,exonic,OTOF,NA,nonsynonymous SNV,"OTOF:NM_001287489:exon16:c.A1861G:p.M621V,OTOF:NM_194248:exon16:c.A1861G:p.M621V",D,D,D,D,D,D
chr2,84800622,84800622,G,A,P237167_S,DNAH6,Missense_Mutation,NM_001370,exon12,c.G1835A,p.R612H,SNP,SNVindel,exonic,DNAH6,NA,nonsynonymous SNV,DNAH6:NM_001370:exon12:c.G1835A:p.R612H,T,N,N,T,N,T
chr2,86315773,86315773,G,A,P237167_S,POLR1A,Nonsense_Mutation,NM_015425,exon6,c.C646T,p.R216X,SNP,SNVindel,exonic,POLR1A,NA,stopgain,POLR1A:NM_015425:exon6:c.C646T:p.R216X,.,D,A,.,.,.
chr2,163256855,163256855,T,C,P237167_S,KCNH7,Missense_Mutation,NM_033272,exon10,c.A2251G,p.K751E,SNP,SNVindel,exonic,KCNH7,NA,nonsynonymous SNV,KCNH7:NM_033272:exon10:c.A2251G:p.K751E,T,D,D,D,D,D
chr2,165994599,165994599,C,T,P237167_S,SCN3A,Silent,NM_001081676,exon15,c.G2034A,p.P678P,SNP,SNVindel,exonic,SCN3A,NA,synonymous SNV,"SCN3A:NM_001081676:exon15:c.G2034A:p.P678P,SCN3A:NM_001081677:exon15:c.G2034A:p.P678P,SCN3A:NM_006922:exon15:c.G2181A:p.P727P",NA,NA,NA,NA,NA,NA
chr2,179582354,179582354,G,C,P237167_S,TTN,Missense_Mutation,NM_133378,exon84,c.C21515G,p.T7172S,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon84:c.C21515G:p.T7172S,TTN:NM_001256850:exon85:c.C24296G:p.T8099S,TTN:NM_001267550:exon87:c.C25247G:p.T8416S",T,.,D,T,N,T
chr2,206480218,206480218,C,A,P237167_S,PARD3B,Missense_Mutation,NM_057177,exon22,c.C3092A,p.A1031E,SNP,SNVindel,exonic,PARD3B,NA,nonsynonymous SNV,"PARD3B:NM_057177:exon22:c.C3092A:p.A1031E,PARD3B:NM_152526:exon22:c.C3113A:p.A1038E,PARD3B:NM_205863:exon22:c.C2996A:p.A999E,PARD3B:NM_001302769:exon23:c.C3299A:p.A1100E",T,N,N,T,N,T
chr2,207171874,207171874,G,A,P237167_S,ZDBF2,Silent,NM_020923,exon5,c.G2622A,p.S874S,SNP,SNVindel,exonic,ZDBF2,NA,synonymous SNV,"ZDBF2:NM_020923:exon5:c.G2622A:p.S874S,ZDBF2:NM_001369654:exon6:c.G2622A:p.S874S,ZDBF2:NM_001285549:exon7:c.G2616A:p.S872S",NA,NA,NA,NA,NA,NA
chr2,209113112,209113112,C,T,P237167_S,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,227872085,227872085,G,A,P237167_S,COL4A4,Missense_Mutation,NM_000092,exon48,c.C5029T,p.R1677C,SNP,SNVindel,exonic,COL4A4,NA,nonsynonymous SNV,COL4A4:NM_000092:exon48:c.C5029T:p.R1677C,D,.,D,D,D,D
chr2,233246425,233246425,C,A,P237167_S,ALPP,Missense_Mutation,NM_001632,exon11,c.C1528A,p.P510T,SNP,SNVindel,exonic,ALPP,NA,nonsynonymous SNV,ALPP:NM_001632:exon11:c.C1528A:p.P510T,T,U,N,D,N,D
chr2,242441078,242441078,T,C,P237167_S,STK25,Missense_Mutation,NM_001271978,exon2,c.A76G,p.I26V,SNP,SNVindel,exonic,STK25,NA,nonsynonymous SNV,"STK25:NM_001271978:exon2:c.A76G:p.I26V,STK25:NM_001271977:exon3:c.A76G:p.I26V,STK25:NM_006374:exon3:c.A76G:p.I26V",T,N,D,T,N,T
chr2,242794874,242794874,C,T,P237167_S,PDCD1,Missense_Mutation,NM_005018,exon2,c.G335A,p.R112K,SNP,SNVindel,exonic,PDCD1,NA,nonsynonymous SNV,PDCD1:NM_005018:exon2:c.G335A:p.R112K,T,N,N,T,N,T
chr3,46758983,46758983,G,A,P237167_S,PRSS50,Missense_Mutation,NM_013270,exon2,c.C251T,p.S84L,SNP,SNVindel,exonic,PRSS50,NA,nonsynonymous SNV,PRSS50:NM_013270:exon2:c.C251T:p.S84L,T,N,N,D,N,T
chr3,49163462,49163462,G,A,P237167_S,LAMB2,Missense_Mutation,NM_002292,exon17,c.C2282T,p.P761L,SNP,SNVindel,exonic,LAMB2,NA,nonsynonymous SNV,LAMB2:NM_002292:exon17:c.C2282T:p.P761L,T,N,N,T,N,T
chr3,51690182,51690182,G,A,P237167_S,RAD54L2,Silent,NM_001322256,exon19,c.G3222A,p.T1074T,SNP,SNVindel,exonic,RAD54L2,NA,synonymous SNV,"RAD54L2:NM_001322256:exon19:c.G3222A:p.T1074T,RAD54L2:NM_001322257:exon19:c.G1989A:p.T663T,RAD54L2:NM_015106:exon20:c.G3222A:p.T1074T,RAD54L2:NM_001322253:exon21:c.G3222A:p.T1074T",NA,NA,NA,NA,NA,NA
chr3,97454953,97454953,A,G,P237167_S,EPHA6,Missense_Mutation,NM_001080448,exon16,c.A3119G,p.D1040G,SNP,SNVindel,exonic,EPHA6,NA,nonsynonymous SNV,EPHA6:NM_001080448:exon16:c.A3119G:p.D1040G,T,.,D,T,N,T
chr3,119325650,119325650,T,C,P237167_S,PLA1A,Missense_Mutation,NM_001206960,exon2,c.T103C,p.C35R,SNP,SNVindel,exonic,PLA1A,NA,nonsynonymous SNV,"PLA1A:NM_001206960:exon2:c.T103C:p.C35R,PLA1A:NM_001293225:exon2:c.T55C:p.C19R,PLA1A:NM_015900:exon2:c.T103C:p.C35R",T,D,D,D,D,D
chr3,122255094,122255094,C,T,P237167_S,PARP9,Silent,NM_001146102,exon10,c.G2106A,p.R702R,SNP,SNVindel,exonic,PARP9,NA,synonymous SNV,"PARP9:NM_001146102:exon10:c.G2106A:p.R702R,PARP9:NM_001146103:exon10:c.G2001A:p.R667R,PARP9:NM_001146104:exon10:c.G2001A:p.R667R,PARP9:NM_001146105:exon10:c.G2001A:p.R667R,PARP9:NM_001146106:exon10:c.G2001A:p.R667R,PARP9:NM_031458:exon10:c.G2106A:p.R702R",NA,NA,NA,NA,NA,NA
chr3,123066741,123066741,G,A,P237167_S,ADCY5,Silent,NM_001199642,exon3,c.C244T,p.L82L,SNP,SNVindel,exonic,ADCY5,NA,synonymous SNV,"ADCY5:NM_001199642:exon3:c.C244T:p.L82L,ADCY5:NM_183357:exon3:c.C1294T:p.L432L",NA,NA,NA,NA,NA,NA
chr3,134086531,134086531,G,A,P237167_S,AMOTL2,Silent,NM_001278683,exon3,c.C1023T,p.G341G,SNP,SNVindel,exonic,AMOTL2,NA,synonymous SNV,"AMOTL2:NM_001278683:exon3:c.C1023T:p.G341G,AMOTL2:NM_001278685:exon3:c.C849T:p.G283G,AMOTL2:NM_001363943:exon3:c.C849T:p.G283G,AMOTL2:NM_016201:exon3:c.C849T:p.G283G",NA,NA,NA,NA,NA,NA
chr3,196214327,196214327,C,T,P237167_S,RNF168,Silent,NM_152617,exon3,c.G501A,p.A167A,SNP,SNVindel,exonic,RNF168,NA,synonymous SNV,RNF168:NM_152617:exon3:c.G501A:p.A167A,NA,NA,NA,NA,NA,NA
chr4,39905664,39905664,C,T,P237167_S,PDS5A,Missense_Mutation,NM_001100399,exon12,c.G1381A,p.D461N,SNP,SNVindel,exonic,PDS5A,NA,nonsynonymous SNV,"PDS5A:NM_001100399:exon12:c.G1381A:p.D461N,PDS5A:NM_001100400:exon12:c.G1381A:p.D461N",D,D,D,.,D,D
chr4,148555049,148555049,A,G,P237167_S,TMEM184C,Missense_Mutation,NM_018241,exon9,c.A1013G,p.D338G,SNP,SNVindel,exonic,TMEM184C,NA,nonsynonymous SNV,TMEM184C:NM_018241:exon9:c.A1013G:p.D338G,D,D,D,.,D,T
chr5,1294415,1294415,G,A,P237167_S,TERT,Missense_Mutation,NM_001193376,exon2,c.C586T,p.R196C,SNP,SNVindel,exonic,TERT,NA,nonsynonymous SNV,"TERT:NM_001193376:exon2:c.C586T:p.R196C,TERT:NM_198253:exon2:c.C586T:p.R196C",T,N,N,D,N,D
chr5,13885253,13885253,C,T,P237167_S,DNAH5,Missense_Mutation,NM_001369,exon19,c.G2828A,p.R943K,SNP,SNVindel,exonic,DNAH5,NA,nonsynonymous SNV,DNAH5:NM_001369:exon19:c.G2828A:p.R943K,T,N,N,T,N,T
chr5,79752286,79752286,C,T,P237167_S,ZFYVE16,Nonsense_Mutation,NM_014733,exon12,c.C3697T,p.R1233X,SNP,SNVindel,exonic,ZFYVE16,NA,stopgain,"ZFYVE16:NM_014733:exon12:c.C3697T:p.R1233X,ZFYVE16:NM_001105251:exon13:c.C3697T:p.R1233X,ZFYVE16:NM_001284236:exon13:c.C3697T:p.R1233X,ZFYVE16:NM_001349434:exon13:c.C3697T:p.R1233X",.,D,A,.,.,.
chr5,150227869,150227869,G,A,P237167_S,IRGM,Missense_Mutation,NM_001145805,exon2,c.G184A,p.A62T,SNP,SNVindel,exonic,IRGM,NA,nonsynonymous SNV,"IRGM:NM_001145805:exon2:c.G184A:p.A62T,IRGM:NM_001346557:exon2:c.G184A:p.A62T",T,.,N,T,N,T
chr6,47846507,47846507,G,A,P237167_S,PTCHD4,Silent,NM_001013732,exon3,c.C2073T,p.S691S,SNP,SNVindel,exonic,PTCHD4,NA,synonymous SNV,PTCHD4:NM_001013732:exon3:c.C2073T:p.S691S,NA,NA,NA,NA,NA,NA
chr6,52993236,52993236,G,A,P237167_S,GCM1,Missense_Mutation,NM_003643,exon6,c.C1079T,p.A360V,SNP,SNVindel,exonic,GCM1,NA,nonsynonymous SNV,GCM1:NM_003643:exon6:c.C1079T:p.A360V,T,N,N,T,N,T
chr6,132892137,132892137,G,A,P237167_S,TAAR6,Missense_Mutation,NM_175067,exon1,c.G677A,p.R226Q,SNP,SNVindel,exonic,TAAR6,NA,nonsynonymous SNV,TAAR6:NM_175067:exon1:c.G677A:p.R226Q,T,N,N,T,N,T
chr6,139266690,139266690,T,C,P237167_S,REPS1,Missense_Mutation,NM_001128617,exon3,c.A422G,p.K141R,SNP,SNVindel,exonic,REPS1,NA,nonsynonymous SNV,"REPS1:NM_001128617:exon3:c.A422G:p.K141R,REPS1:NM_001286611:exon3:c.A422G:p.K141R,REPS1:NM_001286612:exon3:c.A422G:p.K141R,REPS1:NM_031922:exon3:c.A422G:p.K141R",T,D,D,T,N,T
chr7,29440435,29440435,G,A,P237167_S,CHN2,Silent,NM_001293071,exon5,c.G462A,p.A154A,SNP,SNVindel,exonic,CHN2,NA,synonymous SNV,"CHN2:NM_001293071:exon5:c.G462A:p.A154A,CHN2:NM_001293072:exon6:c.G522A:p.A174A,CHN2:NM_004067:exon6:c.G567A:p.A189A,CHN2:NM_001293069:exon7:c.G792A:p.A264A,CHN2:NM_001293070:exon7:c.G606A:p.A202A",NA,NA,NA,NA,NA,NA
chr7,50566861,50566861,A,G,P237167_S,DDC,Silent,NM_001242888,exon6,c.T627C,p.L209L,SNP,SNVindel,exonic,DDC,NA,synonymous SNV,"DDC:NM_001242888:exon6:c.T627C:p.L209L,DDC:NM_001242889:exon6:c.T582C:p.L194L,DDC:NM_001242886:exon7:c.T747C:p.L249L,DDC:NM_001242887:exon7:c.T717C:p.L239L,DDC:NM_000790:exon8:c.T861C:p.L287L,DDC:NM_001082971:exon8:c.T861C:p.L287L,DDC:NM_001242890:exon8:c.T861C:p.L287L",NA,NA,NA,NA,NA,NA
chr7,51132910,51132910,C,T,P237167_S,COBL,Missense_Mutation,NM_001346444,exon8,c.G1333A,p.A445T,SNP,SNVindel,exonic,COBL,NA,nonsynonymous SNV,COBL:NM_001346444:exon8:c.G1333A:p.A445T,D,.,N,.,N,T
chr7,100807206,100807206,C,T,P237167_S,VGF,Missense_Mutation,NM_003378,exon2,c.G919A,p.G307R,SNP,SNVindel,exonic,VGF,NA,nonsynonymous SNV,VGF:NM_003378:exon2:c.G919A:p.G307R,D,N,D,.,N,T
chr7,142565775,142565775,C,T,P237167_S,EPHB6,Missense_Mutation,NM_001280795,exon9,c.C1010T,p.T337M,SNP,SNVindel,exonic,EPHB6,NA,nonsynonymous SNV,"EPHB6:NM_001280795:exon9:c.C1010T:p.T337M,EPHB6:NM_001280794:exon12:c.C1010T:p.T337M,EPHB6:NM_004445:exon13:c.C1886T:p.T629M",.,.,N,.,.,.
chr8,3165908,3165908,A,G,P237167_S,CSMD1,Missense_Mutation,NM_033225,exon24,c.T3749C,p.M1250T,SNP,SNVindel,exonic,CSMD1,NA,nonsynonymous SNV,CSMD1:NM_033225:exon24:c.T3749C:p.M1250T,T,D,D,T,D,T
chr8,15588214,15588214,G,A,P237167_S,TUSC3,Missense_Mutation,NM_001356429,exon7,c.G838A,p.E280K,SNP,SNVindel,exonic,TUSC3,NA,nonsynonymous SNV,"TUSC3:NM_001356429:exon7:c.G838A:p.E280K,TUSC3:NM_006765:exon7:c.G838A:p.E280K,TUSC3:NM_178234:exon7:c.G838A:p.E280K",D,D,D,D,D,D
chr8,25265583,25265583,G,A,P237167_S,DOCK5,Silent,NM_024940,exon49,c.G5178A,p.E1726E,SNP,SNVindel,exonic,DOCK5,NA,synonymous SNV,DOCK5:NM_024940:exon49:c.G5178A:p.E1726E,NA,NA,NA,NA,NA,NA
chr8,28827947,28827947,C,T,P237167_S,HMBOX1,Silent,NM_001135726,exon3,c.C411T,p.Y137Y,SNP,SNVindel,exonic,HMBOX1,NA,synonymous SNV,"HMBOX1:NM_001135726:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324382:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324383:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324384:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324385:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324386:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324387:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324388:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324389:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324390:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324391:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324392:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324394:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324395:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001330498:exon3:c.C411T:p.Y137Y,HMBOX1:NM_001324393:exon4:c.C411T:p.Y137Y,HMBOX1:NM_024567:exon4:c.C411T:p.Y137Y",NA,NA,NA,NA,NA,NA
chr8,42176825,42176825,A,G,P237167_S,IKBKB,Missense_Mutation,NM_001190720,exon13,c.A1396G,p.M466V,SNP,SNVindel,exonic,IKBKB,NA,nonsynonymous SNV,"IKBKB:NM_001190720:exon13:c.A1396G:p.M466V,IKBKB:NM_001242778:exon13:c.A1225G:p.M409V,IKBKB:NM_001556:exon14:c.A1402G:p.M468V",D,D,D,T,N,T
chr8,108348481,108348481,G,A,P237167_S,ANGPT1,Nonsense_Mutation,NM_001146,exon3,c.C472T,p.R158X,SNP,SNVindel,exonic,ANGPT1,NA,stopgain,"ANGPT1:NM_001146:exon3:c.C472T:p.R158X,ANGPT1:NM_001199859:exon3:c.C472T:p.R158X",.,D,A,.,.,.
chr8,144378831,144378831,C,T,P237167_S,ZNF696,Missense_Mutation,NM_030895,exon3,c.C986T,p.A329V,SNP,SNVindel,exonic,ZNF696,NA,nonsynonymous SNV,ZNF696:NM_030895:exon3:c.C986T:p.A329V,D,.,N,T,D,T
chr8,144997064,144997064,G,A,P237167_S,PLEC,Missense_Mutation,NM_201378,exon31,c.C6991T,p.R2331W,SNP,SNVindel,exonic,PLEC,NA,nonsynonymous SNV,"PLEC:NM_201378:exon31:c.C6991T:p.R2331W,PLEC:NM_201379:exon31:c.C6967T:p.R2323W,PLEC:NM_201380:exon31:c.C7444T:p.R2482W,PLEC:NM_201381:exon31:c.C6937T:p.R2313W,PLEC:NM_201382:exon31:c.C7033T:p.R2345W,PLEC:NM_201383:exon31:c.C7045T:p.R2349W,PLEC:NM_201384:exon31:c.C7033T:p.R2345W,PLEC:NM_000445:exon32:c.C7114T:p.R2372W",D,U,D,T,D,T
chr8,145113286,145113286,G,A,P237167_S,OPLAH,Missense_Mutation,NM_017570,exon7,c.C805T,p.R269C,SNP,SNVindel,exonic,OPLAH,NA,nonsynonymous SNV,OPLAH:NM_017570:exon7:c.C805T:p.R269C,.,D,.,.,.,T
chr9,4662545,4662545,G,T,P237167_S,PLPP6,Missense_Mutation,NM_203453,exon1,c.G170T,p.R57L,SNP,SNVindel,exonic,PLPP6,NA,nonsynonymous SNV,PLPP6:NM_203453:exon1:c.G170T:p.R57L,D,U,D,T,N,T
chr9,34372367,34372367,C,T,P237167_S,MYORG,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MYORG,NA,unknown,UNKNOWN,.,N,N,.,.,T
chr9,118974139,118974139,G,A,P237167_S,PAPPA,Missense_Mutation,NM_002581,exon4,c.G1846A,p.G616R,SNP,SNVindel,exonic,PAPPA,NA,nonsynonymous SNV,PAPPA:NM_002581:exon4:c.G1846A:p.G616R,T,N,D,T,N,T
chr10,13708301,13708301,G,A,P237167_S,FRMD4A,Nonsense_Mutation,NM_001318338,exon7,c.C472T,p.R158X,SNP,SNVindel,exonic,FRMD4A,NA,stopgain,"FRMD4A:NM_001318338:exon7:c.C472T:p.R158X,FRMD4A:NM_001318336:exon17:c.C1447T:p.R483X,FRMD4A:NM_001318337:exon17:c.C1498T:p.R500X,FRMD4A:NM_018027:exon18:c.C1399T:p.R467X",.,D,A,.,.,.
chr10,73046515,73046515,C,G,P237167_S,UNC5B,Missense_Mutation,NM_001244889,exon5,c.C622G,p.H208D,SNP,SNVindel,exonic,UNC5B,NA,nonsynonymous SNV,"UNC5B:NM_001244889:exon5:c.C622G:p.H208D,UNC5B:NM_170744:exon5:c.C622G:p.H208D",D,D,D,T,D,T
chr10,88817448,88817448,C,T,P237167_S,GLUD1,Silent,NM_001318900,exon11,c.G1095A,p.S365S,SNP,SNVindel,exonic,GLUD1,NA,synonymous SNV,"GLUD1:NM_001318900:exon11:c.G1095A:p.S365S,GLUD1:NM_005271:exon11:c.G1494A:p.S498S,GLUD1:NM_001318904:exon12:c.G993A:p.S331S,GLUD1:NM_001318906:exon12:c.G993A:p.S331S,GLUD1:NM_001318902:exon13:c.G993A:p.S331S,GLUD1:NM_001318901:exon14:c.G993A:p.S331S,GLUD1:NM_001318905:exon14:c.G993A:p.S331S",NA,NA,NA,NA,NA,NA
chr10,119044889,119044889,C,T,P237167_S,PDZD8,Missense_Mutation,NM_173791,exon5,c.G1355A,p.S452N,SNP,SNVindel,exonic,PDZD8,NA,nonsynonymous SNV,PDZD8:NM_173791:exon5:c.G1355A:p.S452N,T,N,N,D,N,T
chr11,2909831,2909831,G,A,P237167_S,SLC22A18AS,Missense_Mutation,NM_001302862,exon3,c.C32T,p.S11F,SNP,SNVindel,exonic,SLC22A18AS,NA,nonsynonymous SNV,"SLC22A18AS:NM_001302862:exon3:c.C32T:p.S11F,SLC22A18AS:NM_007105:exon4:c.C341T:p.S114F",NA,NA,NA,NA,NA,NA
chr11,5878010,5878010,A,T,P237167_S,OR52E8,Missense_Mutation,NM_001005168,exon1,c.T923A,p.V308E,SNP,SNVindel,exonic,OR52E8,NA,nonsynonymous SNV,OR52E8:NM_001005168:exon1:c.T923A:p.V308E,D,N,D,T,D,T
chr11,6221345,6221345,T,C,P237167_S,OR52W1,Missense_Mutation,NM_001005178,exon1,c.T892C,p.Y298H,SNP,SNVindel,exonic,OR52W1,NA,nonsynonymous SNV,OR52W1:NM_001005178:exon1:c.T892C:p.Y298H,D,N,D,T,D,D
chr11,75277799,75277799,C,T,P237167_S,SERPINH1,Silent,NM_001235,exon2,c.C405T,p.Y135Y,SNP,SNVindel,exonic,SERPINH1,NA,synonymous SNV,"SERPINH1:NM_001235:exon2:c.C405T:p.Y135Y,SERPINH1:NM_001207014:exon3:c.C405T:p.Y135Y",NA,NA,NA,NA,NA,NA
chr11,102663458,102663458,C,T,P237167_S,MMP1,Missense_Mutation,NM_001145938,exon7,c.G713A,p.R238H,SNP,SNVindel,exonic,MMP1,NA,nonsynonymous SNV,"MMP1:NM_001145938:exon7:c.G713A:p.R238H,MMP1:NM_002421:exon7:c.G911A:p.R304H",D,D,D,T,D,T
chr11,123901064,123901064,C,T,P237167_S,OR10G8,Silent,NM_001004464,exon1,c.C735T,p.I245I,SNP,SNVindel,exonic,OR10G8,NA,synonymous SNV,OR10G8:NM_001004464:exon1:c.C735T:p.I245I,NA,NA,NA,NA,NA,NA
chr11,130103900,130103900,T,C,P237167_S,ZBTB44,Missense_Mutation,NM_001370222,exon5,c.A586G,p.I196V,SNP,SNVindel,exonic,ZBTB44,NA,nonsynonymous SNV,"ZBTB44:NM_001370222:exon5:c.A586G:p.I196V,ZBTB44:NM_001370219:exon6:c.A1837G:p.I613V,ZBTB44:NM_001370220:exon6:c.A1783G:p.I595V",NA,NA,NA,NA,NA,NA
chr12,6696678,6696678,C,T,P237167_S,CHD4,Missense_Mutation,NM_001297553,exon24,c.G3730A,p.D1244N,SNP,SNVindel,exonic,CHD4,NA,nonsynonymous SNV,"CHD4:NM_001297553:exon24:c.G3730A:p.D1244N,CHD4:NM_001273:exon25:c.G3751A:p.D1251N,CHD4:NM_001363606:exon25:c.G3712A:p.D1238N",T,D,D,D,N,D
chr12,49994016,49994016,C,T,P237167_S,FAM186B,Silent,NM_032130,exon4,c.G1407A,p.R469R,SNP,SNVindel,exonic,FAM186B,NA,synonymous SNV,FAM186B:NM_032130:exon4:c.G1407A:p.R469R,NA,NA,NA,NA,NA,NA
chr12,57499046,57499046,A,G,P237167_S,STAT6,Silent,NM_001178081,exon7,c.T559C,p.L187L,SNP,SNVindel,exonic,STAT6,NA,synonymous SNV,"STAT6:NM_001178081:exon7:c.T559C:p.L187L,STAT6:NM_001178080:exon8:c.T559C:p.L187L,STAT6:NM_001178078:exon9:c.T889C:p.L297L,STAT6:NM_001178079:exon9:c.T889C:p.L297L,STAT6:NM_003153:exon9:c.T889C:p.L297L",NA,NA,NA,NA,NA,NA
chr12,67675751,67675751,G,T,P237167_S,CAND1,Missense_Mutation,NM_018448,exon2,c.G130T,p.D44Y,SNP,SNVindel,exonic,CAND1,NA,nonsynonymous SNV,"CAND1:NM_018448:exon2:c.G130T:p.D44Y,CAND1:NM_001329674:exon3:c.G58T:p.D20Y,CAND1:NM_001329675:exon3:c.G58T:p.D20Y",D,D,D,T,D,T
chr12,78400868,78400868,A,C,P237167_S,NAV3,Missense_Mutation,NM_001024383,exon8,c.A1550C,p.K517T,SNP,SNVindel,exonic,NAV3,NA,nonsynonymous SNV,"NAV3:NM_001024383:exon8:c.A1550C:p.K517T,NAV3:NM_014903:exon8:c.A1550C:p.K517T",D,U,D,T,D,T
chr12,117187933,117187933,G,A,P237167_S,RNFT2,Missense_Mutation,NM_001109903,exon4,c.G371A,p.G124D,SNP,SNVindel,exonic,RNFT2,NA,nonsynonymous SNV,"RNFT2:NM_001109903:exon4:c.G371A:p.G124D,RNFT2:NM_032814:exon4:c.G371A:p.G124D",T,N,N,T,N,T
chr12,133795515,133795515,C,A,P237167_S,ANHX,Nonsense_Mutation,NM_001191054,exon9,c.G1096T,p.G366X,SNP,SNVindel,exonic,ANHX,NA,stopgain,ANHX:NM_001191054:exon9:c.G1096T:p.G366X,.,.,D,.,.,.
chr12,133795545,133795545,C,G,P237167_S,ANHX,Missense_Mutation,NM_001191054,exon9,c.G1066C,p.D356H,SNP,SNVindel,exonic,ANHX,NA,nonsynonymous SNV,ANHX:NM_001191054:exon9:c.G1066C:p.D356H,D,.,N,T,N,T
chr12,133797894,133797894,C,G,P237167_S,ANHX,Missense_Mutation,NM_001191054,exon7,c.G865C,p.E289Q,SNP,SNVindel,exonic,ANHX,NA,nonsynonymous SNV,ANHX:NM_001191054:exon7:c.G865C:p.E289Q,D,.,N,T,N,T
chr13,20277439,20277439,G,C,P237167_S,PSPC1,Missense_Mutation,NM_001354909,exon9,c.C1448G,p.T483R,SNP,SNVindel,exonic,PSPC1,NA,nonsynonymous SNV,"PSPC1:NM_001354909:exon9:c.C1448G:p.T483R,PSPC1:NM_001042414:exon10:c.C1448G:p.T483R",T,D,D,T,N,T
chr13,21395925,21395925,G,C,P237167_S,XPO4,Missense_Mutation,NM_022459,exon9,c.C1091G,p.P364R,SNP,SNVindel,exonic,XPO4,NA,nonsynonymous SNV,XPO4:NM_022459:exon9:c.C1091G:p.P364R,D,D,D,T,D,T
chr14,21991506,21991506,T,C,P237167_S,SALL2,Missense_Mutation,NM_001364564,exon2,c.A2350G,p.R784G,SNP,SNVindel,exonic,SALL2,NA,nonsynonymous SNV,"SALL2:NM_001364564:exon2:c.A2350G:p.R784G,SALL2:NM_005407:exon2:c.A2356G:p.R786G,SALL2:NM_001291446:exon3:c.A1951G:p.R651G,SALL2:NM_001291447:exon3:c.A1945G:p.R649G",D,D,D,T,N,T
chr14,74060588,74060588,T,C,P237167_S,ACOT4,Missense_Mutation,NM_152331,exon2,c.T640C,p.Y214H,SNP,SNVindel,exonic,ACOT4,NA,nonsynonymous SNV,ACOT4:NM_152331:exon2:c.T640C:p.Y214H,D,D,D,T,D,T
chr14,105752664,105752664,C,T,P237167_S,BRF1,Silent,NM_001242790,exon2,c.G234A,p.G78G,SNP,SNVindel,exonic,BRF1,NA,synonymous SNV,"BRF1:NM_001242790:exon2:c.G234A:p.G78G,BRF1:NM_001519:exon2:c.G234A:p.G78G",NA,NA,NA,NA,NA,NA
chr15,37002053,37002053,T,A,P237167_S,C15orf41,Missense_Mutation,NM_001321761,exon10,c.T625A,p.L209I,SNP,SNVindel,exonic,C15orf41,NA,nonsynonymous SNV,C15orf41:NM_001321761:exon10:c.T625A:p.L209I,T,.,D,T,N,.
chr15,45427846,45427846,G,A,P237167_S,DUOX1,Missense_Mutation,NM_175940,exon6,c.G670A,p.G224R,SNP,SNVindel,exonic,DUOX1,NA,nonsynonymous SNV,"DUOX1:NM_175940:exon6:c.G670A:p.G224R,DUOX1:NM_017434:exon7:c.G670A:p.G224R",T,N,D,T,N,T
chr15,94899447,94899447,T,C,P237167_S,MCTP2,Silent,NM_001159643,exon8,c.T1087C,p.L363L,SNP,SNVindel,exonic,MCTP2,NA,synonymous SNV,"MCTP2:NM_001159643:exon8:c.T1087C:p.L363L,MCTP2:NM_018349:exon8:c.T1087C:p.L363L",NA,NA,NA,NA,NA,NA
chr15,101972254,101972254,G,A,P237167_S,PCSK6,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PCSK6,NA,unknown,UNKNOWN,.,N,A,.,.,.
chr16,2158728,2158728,C,T,P237167_S,PKD1,Missense_Mutation,NM_000296,exon15,c.G6440A,p.R2147Q,SNP,SNVindel,exonic,PKD1,NA,nonsynonymous SNV,"PKD1:NM_000296:exon15:c.G6440A:p.R2147Q,PKD1:NM_001009944:exon15:c.G6440A:p.R2147Q",T,N,N,T,N,T
chr16,58011753,58011753,C,T,P237167_S,TEPP,Silent,NM_199046,exon2,c.C198T,p.D66D,SNP,SNVindel,exonic,TEPP,NA,synonymous SNV,"TEPP:NM_199046:exon2:c.C198T:p.D66D,TEPP:NM_199456:exon2:c.C198T:p.D66D",NA,NA,NA,NA,NA,NA
chr16,75654693,75654693,C,T,P237167_S,ADAT1,Nonsense_Mutation,NM_001324445,exon2,c.G5A,p.W2X,SNP,SNVindel,exonic,ADAT1,NA,stopgain,"ADAT1:NM_001324445:exon2:c.G5A:p.W2X,ADAT1:NM_001324449:exon2:c.G5A:p.W2X,ADAT1:NM_001324448:exon3:c.G5A:p.W2X,ADAT1:NM_012091:exon3:c.G5A:p.W2X",.,D,A,.,.,.
chr16,88779748,88779748,G,A,P237167_S,CTU2,Missense_Mutation,NM_001318513,exon7,c.G505A,p.A169T,SNP,SNVindel,exonic,CTU2,NA,nonsynonymous SNV,"CTU2:NM_001318513:exon7:c.G505A:p.A169T,CTU2:NM_001012759:exon8:c.G766A:p.A256T,CTU2:NM_001012762:exon8:c.G766A:p.A256T,CTU2:NM_001318507:exon8:c.G979A:p.A327T",T,N,N,T,N,T
chr17,6927608,6927608,G,A,P237167_S,BCL6B,Missense_Mutation,NM_181844,exon3,c.G386A,p.R129H,SNP,SNVindel,exonic,BCL6B,NA,nonsynonymous SNV,BCL6B:NM_181844:exon3:c.G386A:p.R129H,D,N,N,T,N,T
chr17,7578235,7578235,T,C,P237167_S,TP53,Missense_Mutation,NM_001126115,exon2,c.A218G,p.Y73C,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon2:c.A218G:p.Y73C,TP53:NM_001126116:exon2:c.A218G:p.Y73C,TP53:NM_001126117:exon2:c.A218G:p.Y73C,TP53:NM_001276697:exon2:c.A137G:p.Y46C,TP53:NM_001276698:exon2:c.A137G:p.Y46C,TP53:NM_001276699:exon2:c.A137G:p.Y46C,TP53:NM_001126118:exon5:c.A497G:p.Y166C,TP53:NM_000546:exon6:c.A614G:p.Y205C,TP53:NM_001126112:exon6:c.A614G:p.Y205C,TP53:NM_001126113:exon6:c.A614G:p.Y205C,TP53:NM_001126114:exon6:c.A614G:p.Y205C,TP53:NM_001276695:exon6:c.A497G:p.Y166C,TP53:NM_001276696:exon6:c.A497G:p.Y166C,TP53:NM_001276760:exon6:c.A497G:p.Y166C,TP53:NM_001276761:exon6:c.A497G:p.Y166C",D,D,D,D,D,D
chr17,30380302,30380302,G,A,P237167_S,LRRC37B,Silent,NM_052888,exon12,c.G2799A,p.R933R,SNP,SNVindel,exonic,LRRC37B,NA,synonymous SNV,"LRRC37B:NM_052888:exon12:c.G2799A:p.R933R,LRRC37B:NM_001321350:exon15:c.G2553A:p.R851R",NA,NA,NA,NA,NA,NA
chr17,39280265,39280265,C,T,P237167_S,KRTAP4-12,Missense_Mutation,NM_031854,exon1,c.G110A,p.R37H,SNP,SNVindel,exonic,KRTAP4-12,NA,nonsynonymous SNV,KRTAP4-12:NM_031854:exon1:c.G110A:p.R37H,D,U,N,T,D,T
chr17,42392648,42392648,A,G,P237167_S,RUNDC3A,Missense_Mutation,NM_001144825,exon7,c.A755G,p.H252R,SNP,SNVindel,exonic,RUNDC3A,NA,nonsynonymous SNV,"RUNDC3A:NM_001144825:exon7:c.A755G:p.H252R,RUNDC3A:NM_001144826:exon7:c.A740G:p.H247R,RUNDC3A:NM_006695:exon7:c.A755G:p.H252R",T,D,D,T,N,T
chr17,44248898,44248898,A,G,P237167_S,KANSL1,Silent,NM_001193466,exon2,c.T612C,p.G204G,SNP,SNVindel,exonic,KANSL1,NA,synonymous SNV,"KANSL1:NM_001193466:exon2:c.T612C:p.G204G,KANSL1:NM_015443:exon2:c.T612C:p.G204G,KANSL1:NM_001193465:exon3:c.T612C:p.G204G",NA,NA,NA,NA,NA,NA
chr17,58292003,58292003,C,T,P237167_S,USP32,Missense_Mutation,NM_032582,exon17,c.G2000A,p.R667H,SNP,SNVindel,exonic,USP32,NA,nonsynonymous SNV,USP32:NM_032582:exon17:c.G2000A:p.R667H,D,D,D,T,D,T
chr17,76989914,76989914,G,A,P237167_S,CANT1,Silent,NM_138793,exon4,c.C924T,p.S308S,SNP,SNVindel,exonic,CANT1,NA,synonymous SNV,"CANT1:NM_138793:exon4:c.C924T:p.S308S,CANT1:NM_001159773:exon5:c.C924T:p.S308S,CANT1:NM_001159772:exon6:c.C924T:p.S308S",NA,NA,NA,NA,NA,NA
chr18,5969537,5969537,T,A,P237167_S,L3MBTL4,Missense_Mutation,NM_001330559,exon17,c.A1469T,p.Q490L,SNP,SNVindel,exonic,L3MBTL4,NA,nonsynonymous SNV,"L3MBTL4:NM_001330559:exon17:c.A1469T:p.Q490L,L3MBTL4:NM_001365765:exon17:c.A1469T:p.Q490L,L3MBTL4:NM_001365770:exon18:c.A1496T:p.Q499L,L3MBTL4:NM_173464:exon18:c.A1496T:p.Q499L",T,U,N,T,D,T
chr18,34324134,34324134,G,A,P237167_S,FHOD3,Missense_Mutation,NM_001281739,exon19,c.G3443A,p.G1148E,SNP,SNVindel,exonic,FHOD3,NA,nonsynonymous SNV,"FHOD3:NM_001281739:exon19:c.G3443A:p.G1148E,FHOD3:NM_025135:exon20:c.G3494A:p.G1165E,FHOD3:NM_001281740:exon23:c.G4019A:p.G1340E",D,D,D,T,D,T
chr18,67833416,67833416,G,C,P237167_S,RTTN,Missense_Mutation,NM_173630,exon14,c.C1811G,p.S604C,SNP,SNVindel,exonic,RTTN,NA,nonsynonymous SNV,RTTN:NM_173630:exon14:c.C1811G:p.S604C,D,D,D,T,N,T
chr19,5867372,5867372,T,C,P237167_S,FUT5,Missense_Mutation,NM_002034,exon2,c.A365G,p.H122R,SNP,SNVindel,exonic,FUT5,NA,nonsynonymous SNV,FUT5:NM_002034:exon2:c.A365G:p.H122R,D,U,D,T,D,T
chr19,10967016,10967016,C,T,P237167_S,C19orf38,Missense_Mutation,NM_001136482,exon3,c.C416T,p.A139V,SNP,SNVindel,exonic,C19orf38,NA,nonsynonymous SNV,C19orf38:NM_001136482:exon3:c.C416T:p.A139V,T,N,N,.,N,T
chr19,12384256,12384256,C,A,P237167_S,ZNF44,Nonsense_Mutation,NM_001353551,exon4,c.G718T,p.E240X,SNP,SNVindel,exonic,ZNF44,NA,stopgain,"ZNF44:NM_001353551:exon4:c.G718T:p.E240X,ZNF44:NM_001353552:exon4:c.G478T:p.E160X,ZNF44:NM_016264:exon4:c.G814T:p.E272X,ZNF44:NM_001164276:exon5:c.G958T:p.E320X,ZNF44:NM_001353550:exon5:c.G718T:p.E240X,ZNF44:NM_001353553:exon5:c.G478T:p.E160X,ZNF44:NM_001353549:exon6:c.G718T:p.E240X",.,.,.,.,.,.
chr19,37903593,37903593,T,C,P237167_S,ZNF569,Missense_Mutation,NM_001330482,exon5,c.A1490G,p.H497R,SNP,SNVindel,exonic,ZNF569,NA,nonsynonymous SNV,"ZNF569:NM_001330482:exon5:c.A1490G:p.H497R,ZNF569:NM_152484:exon6:c.A1967G:p.H656R",D,N,D,T,D,D
chr19,40366170,40366170,C,T,P237167_S,FCGBP,Silent,NM_003890,exon30,c.G14064A,p.A4688A,SNP,SNVindel,exonic,FCGBP,NA,synonymous SNV,FCGBP:NM_003890:exon30:c.G14064A:p.A4688A,NA,NA,NA,NA,NA,NA
chr19,41838064,41838064,T,C,P237167_S,TGFB1,Missense_Mutation,NM_000660,exon6,c.A983G,p.Y328C,SNP,SNVindel,exonic,TGFB1,NA,nonsynonymous SNV,TGFB1:NM_000660:exon6:c.A983G:p.Y328C,D,D,D,D,D,D
chr19,44050240,44050240,G,A,P237167_S,XRCC1,Missense_Mutation,NM_006297,exon13,c.C1445T,p.A482V,SNP,SNVindel,exonic,XRCC1,NA,nonsynonymous SNV,XRCC1:NM_006297:exon13:c.C1445T:p.A482V,T,N,D,T,N,T
chr19,44591354,44591354,C,T,P237167_S,ZNF284,Missense_Mutation,NM_001037813,exon5,c.C1723T,p.R575C,SNP,SNVindel,exonic,ZNF284,NA,nonsynonymous SNV,ZNF284:NM_001037813:exon5:c.C1723T:p.R575C,T,.,N,T,N,T
chr19,45910436,45910436,C,T,P237167_S,CD3EAP,Missense_Mutation,NM_001297590,exon2,c.C113T,p.T38M,SNP,SNVindel,exonic,CD3EAP,NA,nonsynonymous SNV,"CD3EAP:NM_001297590:exon2:c.C113T:p.T38M,CD3EAP:NM_012099:exon2:c.C107T:p.T36M",D,N,N,T,D,T
chr19,46973136,46973136,G,A,P237167_S,PNMA8A,Missense_Mutation,NM_018215,exon2,c.C1157T,p.P386L,SNP,SNVindel,exonic,PNMA8A,NA,nonsynonymous SNV,PNMA8A:NM_018215:exon2:c.C1157T:p.P386L,T,N,N,T,D,T
chr19,51274851,51274851,A,C,P237167_S,GPR32,Missense_Mutation,NM_001506,exon1,c.A994C,p.T332P,SNP,SNVindel,exonic,GPR32,NA,nonsynonymous SNV,GPR32:NM_001506:exon1:c.A994C:p.T332P,T,.,N,T,N,T
chr19,55449552,55449552,G,A,P237167_S,NLRP7,Silent,NM_001127255,exon5,c.C1989T,p.L663L,SNP,SNVindel,exonic,NLRP7,NA,synonymous SNV,"NLRP7:NM_001127255:exon5:c.C1989T:p.L663L,NLRP7:NM_206828:exon5:c.C1989T:p.L663L",NA,NA,NA,NA,NA,NA
chr19,55899641,55899641,C,T,P237167_S,RPL28,Missense_Mutation,NM_000991,exon5,c.C355T,p.R119C,SNP,SNVindel,exonic,RPL28,NA,nonsynonymous SNV,RPL28:NM_000991:exon5:c.C355T:p.R119C,T,N,D,T,D,T
chr19,56126888,56126888,C,T,P237167_S,ZNF865,Missense_Mutation,NM_001195605,exon1,c.C1904T,p.A635V,SNP,SNVindel,exonic,ZNF865,NA,nonsynonymous SNV,ZNF865:NM_001195605:exon1:c.C1904T:p.A635V,T,.,N,T,N,.
chr20,2640389,2640389,G,C,P237167_S,IDH3B,Silent,NM_001258384,exon10,c.C966G,p.P322P,SNP,SNVindel,exonic,IDH3B,NA,synonymous SNV,"IDH3B:NM_001258384:exon10:c.C966G:p.P322P,IDH3B:NM_001330763:exon10:c.C966G:p.P322P,IDH3B:NM_006899:exon10:c.C966G:p.P322P,IDH3B:NM_174855:exon10:c.C966G:p.P322P",NA,NA,NA,NA,NA,NA
chr20,44044835,44044835,G,A,P237167_S,PIGT,Silent,NM_001184728,exon1,c.G39A,p.L13L,SNP,SNVindel,exonic,PIGT,NA,synonymous SNV,"PIGT:NM_001184728:exon1:c.G39A:p.L13L,PIGT:NM_001184729:exon1:c.G39A:p.L13L,PIGT:NM_001184730:exon1:c.G39A:p.L13L,PIGT:NM_015937:exon1:c.G39A:p.L13L",NA,NA,NA,NA,NA,NA
chr21,19725276,19725276,C,T,P237167_S,TMPRSS15,Missense_Mutation,NM_002772,exon10,c.G1115A,p.S372N,SNP,SNVindel,exonic,TMPRSS15,NA,nonsynonymous SNV,TMPRSS15:NM_002772:exon10:c.G1115A:p.S372N,T,N,N,T,N,T
chr22,18609177,18609177,C,T,P237167_S,TUBA8,Silent,NM_001193414,exon4,c.C234T,p.G78G,SNP,SNVindel,exonic,TUBA8,NA,synonymous SNV,"TUBA8:NM_001193414:exon4:c.C234T:p.G78G,TUBA8:NM_018943:exon4:c.C432T:p.G144G",NA,NA,NA,NA,NA,NA
chr22,21344753,21344753,T,C,P237167_S,LZTR1,Missense_Mutation,NM_006767,exon8,c.T730C,p.S244P,SNP,SNVindel,exonic,LZTR1,NA,nonsynonymous SNV,LZTR1:NM_006767:exon8:c.T730C:p.S244P,D,D,D,T,D,D
chr22,29704362,29704362,G,A,P237167_S,GAS2L1,Silent,NM_001278730,exon2,c.G267A,p.A89A,SNP,SNVindel,exonic,GAS2L1,NA,synonymous SNV,GAS2L1:NM_001278730:exon2:c.G267A:p.A89A,NA,NA,NA,NA,NA,NA
chr22,45601544,45601544,G,A,P237167_S,KIAA0930,Silent,NM_001009880,exon4,c.C381T,p.G127G,SNP,SNVindel,exonic,KIAA0930,NA,synonymous SNV,"KIAA0930:NM_001009880:exon4:c.C381T:p.G127G,KIAA0930:NM_015264:exon4:c.C396T:p.G132G",NA,NA,NA,NA,NA,NA
chrX,48433998,48433998,C,T,P237167_S,RBM3,Silent,NM_006743,exon3,c.C153T,p.F51F,SNP,SNVindel,exonic,RBM3,NA,synonymous SNV,RBM3:NM_006743:exon3:c.C153T:p.F51F,NA,NA,NA,NA,NA,NA
chrX,51075841,51075841,A,G,P237167_S,NUDT10,Silent,NM_001304963,exon1,c.A24G,p.T8T,SNP,SNVindel,exonic,NUDT10,NA,synonymous SNV,"NUDT10:NM_001304963:exon1:c.A24G:p.T8T,NUDT10:NM_153183:exon2:c.A24G:p.T8T",NA,NA,NA,NA,NA,NA
chrX,51075901,51075901,G,A,P237167_S,NUDT10,Silent,NM_001304963,exon1,c.G84A,p.E28E,SNP,SNVindel,exonic,NUDT10,NA,synonymous SNV,"NUDT10:NM_001304963:exon1:c.G84A:p.E28E,NUDT10:NM_153183:exon2:c.G84A:p.E28E",NA,NA,NA,NA,NA,NA
chrX,62893977,62893977,G,A,P237167_S,ARHGEF9,Nonsense_Mutation,NM_001173479,exon5,c.C706T,p.R236X,SNP,SNVindel,exonic,ARHGEF9,NA,stopgain,"ARHGEF9:NM_001173479:exon5:c.C706T:p.R236X,ARHGEF9:NM_001173480:exon5:c.C559T:p.R187X,ARHGEF9:NM_001353924:exon5:c.C685T:p.R229X,ARHGEF9:NM_001353926:exon5:c.C685T:p.R229X,ARHGEF9:NM_001353921:exon6:c.C886T:p.R296X,ARHGEF9:NM_001353922:exon6:c.C886T:p.R296X,ARHGEF9:NM_001353923:exon6:c.C904T:p.R302X,ARHGEF9:NM_001353927:exon6:c.C802T:p.R268X,ARHGEF9:NM_001353928:exon6:c.C865T:p.R289X,ARHGEF9:NM_001369032:exon6:c.C865T:p.R289X,ARHGEF9:NM_001369033:exon6:c.C802T:p.R268X,ARHGEF9:NM_001369035:exon6:c.C802T:p.R268X,ARHGEF9:NM_001369038:exon6:c.C802T:p.R268X,ARHGEF9:NM_001369039:exon6:c.C685T:p.R229X,ARHGEF9:NM_001369040:exon6:c.C685T:p.R229X,ARHGEF9:NM_001369041:exon6:c.C802T:p.R268X,ARHGEF9:NM_001369044:exon6:c.C802T:p.R268X,ARHGEF9:NM_015185:exon6:c.C865T:p.R289X,ARHGEF9:NM_001330495:exon7:c.C802T:p.R268X,ARHGEF9:NM_001369030:exon7:c.C865T:p.R289X,ARHGEF9:NM_001369031:exon7:c.C865T:p.R289X,ARHGEF9:NM_001369034:exon7:c.C802T:p.R268X,ARHGEF9:NM_001369036:exon7:c.C802T:p.R268X,ARHGEF9:NM_001369042:exon7:c.C559T:p.R187X,ARHGEF9:NM_001369043:exon7:c.C802T:p.R268X,ARHGEF9:NM_001369037:exon8:c.C802T:p.R268X,ARHGEF9:NM_001369045:exon9:c.C451T:p.R151X",.,D,A,.,.,.
chrX,71358881,71358881,C,T,P237167_S,NHSL2,Missense_Mutation,NM_001013627,exon6,c.C1483T,p.R495W,SNP,SNVindel,exonic,NHSL2,NA,nonsynonymous SNV,NHSL2:NM_001013627:exon6:c.C1483T:p.R495W,D,D,D,T,D,T
chrX,71359233,71359233,C,T,P237167_S,NHSL2,Missense_Mutation,NM_001013627,exon6,c.C1835T,p.S612L,SNP,SNVindel,exonic,NHSL2,NA,nonsynonymous SNV,NHSL2:NM_001013627:exon6:c.C1835T:p.S612L,T,N,N,T,N,T
chrX,100486731,100486731,G,A,P237167_S,DRP2,Missense_Mutation,NM_001939,exon3,c.G95A,p.R32Q,SNP,SNVindel,exonic,DRP2,NA,nonsynonymous SNV,DRP2:NM_001939:exon3:c.G95A:p.R32Q,D,N,D,T,N,T
chrX,110951259,110951259,C,T,P237167_S,ALG13,Silent,NM_001099922,exon4,c.C388T,p.L130L,SNP,SNVindel,exonic,ALG13,NA,synonymous SNV,"ALG13:NM_001099922:exon4:c.C388T:p.L130L,ALG13:NM_001257230:exon4:c.C76T:p.L26L,ALG13:NM_001257231:exon4:c.C154T:p.L52L,ALG13:NM_001257234:exon4:c.C76T:p.L26L,ALG13:NM_001257237:exon4:c.C76T:p.L26L,ALG13:NM_001324292:exon4:c.C388T:p.L130L,ALG13:NM_001324293:exon4:c.C76T:p.L26L",NA,NA,NA,NA,NA,NA
chrX,117959418,117959418,G,A,P237167_S,ZCCHC12,Missense_Mutation,NM_001312891,exon3,c.G211A,p.V71I,SNP,SNVindel,exonic,ZCCHC12,NA,nonsynonymous SNV,"ZCCHC12:NM_001312891:exon3:c.G211A:p.V71I,ZCCHC12:NM_173798:exon4:c.G211A:p.V71I",T,N,N,T,N,T
chr1,36638989,36638989,C,T,P238571_F,MAP7D1,Missense_Mutation,NM_001286365,exon5,c.C649T,p.R217W,SNP,SNVindel,exonic,MAP7D1,NA,nonsynonymous SNV,"MAP7D1:NM_001286365:exon5:c.C649T:p.R217W,MAP7D1:NM_001286366:exon5:c.C649T:p.R217W,MAP7D1:NM_018067:exon5:c.C649T:p.R217W",D,N,D,T,D,T
chr1,43687894,43687894,G,C,P238571_F,CFAP57,Missense_Mutation,NM_001195831,exon15,c.G2460C,p.K820N,SNP,SNVindel,exonic,CFAP57,NA,nonsynonymous SNV,CFAP57:NM_001195831:exon15:c.G2460C:p.K820N,T,.,N,T,N,T
chr1,112991793,112991793,A,G,P238571_F,CTTNBP2NL,Missense_Mutation,NM_018704,exon4,c.A329G,p.K110R,SNP,SNVindel,exonic,CTTNBP2NL,NA,nonsynonymous SNV,CTTNBP2NL:NM_018704:exon4:c.A329G:p.K110R,T,D,D,T,N,T
chr1,145323672,145323672,A,G,P238571_F,NBPF10,Missense_Mutation,NM_001039703,exon29,c.A3734G,p.E1245G,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon29:c.A3734G:p.E1245G,NBPF10:NM_001302371:exon29:c.A3734G:p.E1245G",.,.,.,.,.,.
chr1,146639415,146639415,T,C,P238571_F,PRKAB2,Missense_Mutation,NM_005399,exon3,c.A254G,p.E85G,SNP,SNVindel,exonic,PRKAB2,NA,nonsynonymous SNV,PRKAB2:NM_005399:exon3:c.A254G:p.E85G,T,D,D,.,N,T
chr1,148343792,148343792,C,A,P238571_F,NBPF14,Missense_Mutation,NM_001351372,exon3,c.G295T,p.V99F,SNP,SNVindel,exonic,NBPF14;NBPF19;NBPF26,NA,nonsynonymous SNV,"NBPF26:NM_001351372:exon3:c.G295T:p.V99F,NBPF14:NM_015383:exon3:c.G295T:p.V99F",.,.,.,.,.,T
chr1,193202267,193202267,A,G,P238571_F,CDC73,Silent,NM_024529,exon14,c.A1299G,p.K433K,SNP,SNVindel,exonic,CDC73,NA,synonymous SNV,CDC73:NM_024529:exon14:c.A1299G:p.K433K,NA,NA,NA,NA,NA,NA
chr1,231487237,231487237,A,G,P238571_F,SPRTN,Missense_Mutation,NM_001261462,exon3,c.A509G,p.K170R,SNP,SNVindel,exonic,SPRTN,NA,nonsynonymous SNV,"SPRTN:NM_001261462:exon3:c.A509G:p.K170R,SPRTN:NM_001010984:exon4:c.A638G:p.K213R,SPRTN:NM_032018:exon4:c.A638G:p.K213R",T,D,D,T,D,T
chr2,74885053,74885053,C,T,P238571_F,SEMA4F,Missense_Mutation,NM_004263,exon4,c.C431T,p.A144V,SNP,SNVindel,exonic,SEMA4F,NA,nonsynonymous SNV,SEMA4F:NM_004263:exon4:c.C431T:p.A144V,D,N,D,T,D,T
chr2,112536287,112536287,G,A,P238571_F,ANAPC1,Missense_Mutation,NM_022662,exon45,c.C5350T,p.P1784S,SNP,SNVindel,exonic,ANAPC1,NA,nonsynonymous SNV,ANAPC1:NM_022662:exon45:c.C5350T:p.P1784S,D,D,D,.,N,T
chr2,114257266,114257266,C,T,P238571_F,FOXD4L1,Missense_Mutation,NM_012184,exon1,c.C433T,p.R145C,SNP,SNVindel,exonic,FOXD4L1,NA,nonsynonymous SNV,FOXD4L1:NM_012184:exon1:c.C433T:p.R145C,D,U,D,D,D,D
chr2,209113112,209113112,C,T,P238571_F,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr5,134910344,134910344,C,G,P238571_F,CXCL14,Missense_Mutation,NM_004887,exon3,c.G238C,p.G80R,SNP,SNVindel,exonic,CXCL14,NA,nonsynonymous SNV,CXCL14:NM_004887:exon3:c.G238C:p.G80R,D,D,D,T,D,T
chr5,140573991,140573991,G,C,P238571_F,PCDHB10,Silent,NM_018930,exon1,c.G1866C,p.G622G,SNP,SNVindel,exonic,PCDHB10,NA,synonymous SNV,PCDHB10:NM_018930:exon1:c.G1866C:p.G622G,NA,NA,NA,NA,NA,NA
chr6,38810656,38810656,C,T,P238571_F,DNAH8,Missense_Mutation,NM_001371,exon34,c.C4171T,p.L1391F,SNP,SNVindel,exonic,DNAH8,NA,nonsynonymous SNV,"DNAH8:NM_001371:exon34:c.C4171T:p.L1391F,DNAH8:NM_001206927:exon35:c.C4822T:p.L1608F",D,D,D,T,D,T
chr6,132966641,132966641,C,T,P238571_F,TAAR1,Missense_Mutation,NM_138327,exon1,c.G502A,p.A168T,SNP,SNVindel,exonic,TAAR1,NA,nonsynonymous SNV,TAAR1:NM_138327:exon1:c.G502A:p.A168T,T,N,N,T,N,T
chr8,38678142,38678142,G,A,P238571_F,TACC1,Silent,NM_001352789,exon2,c.G795A,p.S265S,SNP,SNVindel,exonic,TACC1,NA,synonymous SNV,"TACC1:NM_001352789:exon2:c.G795A:p.S265S,TACC1:NM_001352790:exon2:c.G795A:p.S265S,TACC1:NM_001352791:exon2:c.G795A:p.S265S,TACC1:NM_001352793:exon2:c.G795A:p.S265S,TACC1:NM_001352795:exon2:c.G795A:p.S265S,TACC1:NM_001352796:exon2:c.G795A:p.S265S,TACC1:NM_001352802:exon2:c.G795A:p.S265S,TACC1:NM_001146216:exon3:c.G795A:p.S265S,TACC1:NM_001330521:exon3:c.G795A:p.S265S,TACC1:NM_001352779:exon3:c.G1380A:p.S460S,TACC1:NM_001352781:exon3:c.G1380A:p.S460S,TACC1:NM_001352782:exon3:c.G1296A:p.S432S,TACC1:NM_001352783:exon3:c.G1380A:p.S460S,TACC1:NM_001352784:exon3:c.G1296A:p.S432S,TACC1:NM_001352788:exon3:c.G795A:p.S265S,TACC1:NM_001352792:exon3:c.G795A:p.S265S,TACC1:NM_001352794:exon3:c.G795A:p.S265S,TACC1:NM_001352798:exon3:c.G795A:p.S265S,TACC1:NM_001352799:exon3:c.G795A:p.S265S,TACC1:NM_001352800:exon3:c.G1380A:p.S460S,TACC1:NM_006283:exon3:c.G1380A:p.S460S,TACC1:NM_001352785:exon4:c.G1272A:p.S424S,TACC1:NM_001352787:exon4:c.G1272A:p.S424S,TACC1:NM_001352797:exon4:c.G795A:p.S265S,TACC1:NM_001352778:exon5:c.G1428A:p.S476S,TACC1:NM_001352780:exon5:c.G1428A:p.S476S,TACC1:NM_001352786:exon5:c.G1245A:p.S415S",NA,NA,NA,NA,NA,NA
chr9,99521393,99521393,T,C,P238571_F,ZNF510,Silent,NM_001314060,exon5,c.A1533G,p.K511K,SNP,SNVindel,exonic,ZNF510,NA,synonymous SNV,"ZNF510:NM_001314060:exon5:c.A1533G:p.K511K,ZNF510:NM_001314059:exon6:c.A1719G:p.K573K,ZNF510:NM_014930:exon6:c.A1719G:p.K573K",NA,NA,NA,NA,NA,NA
chr9,137716501,137716501,G,A,P238571_F,COL5A1,Missense_Mutation,NM_000093,exon62,c.G4754A,p.R1585Q,SNP,SNVindel,exonic,COL5A1,NA,nonsynonymous SNV,"COL5A1:NM_000093:exon62:c.G4754A:p.R1585Q,COL5A1:NM_001278074:exon62:c.G4754A:p.R1585Q",D,U,D,D,D,D
chr11,59810960,59810960,T,C,P238571_F,OOSP2,Missense_Mutation,NM_173801,exon2,c.T83C,p.L28P,SNP,SNVindel,exonic,OOSP2,NA,nonsynonymous SNV,OOSP2:NM_173801:exon2:c.T83C:p.L28P,T,N,N,.,D,T
chr11,62747346,62747346,T,C,P238571_F,SLC22A6,Missense_Mutation,NM_004790,exon7,c.A1112G,p.Q371R,SNP,SNVindel,exonic,SLC22A6,NA,nonsynonymous SNV,"SLC22A6:NM_004790:exon7:c.A1112G:p.Q371R,SLC22A6:NM_153276:exon7:c.A1112G:p.Q371R,SLC22A6:NM_153277:exon7:c.A1112G:p.Q371R,SLC22A6:NM_153278:exon7:c.A1112G:p.Q371R",D,D,D,T,D,D
chr11,124266932,124266932,A,T,P238571_F,OR8B3,Missense_Mutation,NM_001005467,exon1,c.T316A,p.F106I,SNP,SNVindel,exonic,OR8B3,NA,nonsynonymous SNV,OR8B3:NM_001005467:exon1:c.T316A:p.F106I,T,D,D,T,D,T
chr12,31237585,31237585,G,T,P238571_F,DDX11,Missense_Mutation,NM_001257144,exon4,c.G462T,p.K154N,SNP,SNVindel,exonic,DDX11,NA,nonsynonymous SNV,"DDX11:NM_001257144:exon4:c.G462T:p.K154N,DDX11:NM_001257145:exon4:c.G384T:p.K128N,DDX11:NM_004399:exon4:c.G462T:p.K154N,DDX11:NM_030653:exon4:c.G462T:p.K154N,DDX11:NM_152438:exon4:c.G462T:p.K154N",T,N,N,T,N,T
chr12,33030900,33030900,C,T,P238571_F,PKP2,Missense_Mutation,NM_001005242,exon3,c.G914A,p.G305E,SNP,SNVindel,exonic,PKP2,NA,nonsynonymous SNV,"PKP2:NM_001005242:exon3:c.G914A:p.G305E,PKP2:NM_004572:exon3:c.G914A:p.G305E",D,N,N,T,N,T
chr14,20903556,20903556,G,A,P238571_F,KLHL33,Nonsense_Mutation,NM_001365790,exon2,c.C415T,p.R139X,SNP,SNVindel,exonic,KLHL33,NA,stopgain,KLHL33:NM_001365790:exon2:c.C415T:p.R139X,NA,NA,NA,NA,NA,NA
chr16,1962140,1962140,C,T,P238571_F,HS3ST6,Silent,NM_001009606,exon2,c.G480A,p.T160T,SNP,SNVindel,exonic,HS3ST6,NA,synonymous SNV,HS3ST6:NM_001009606:exon2:c.G480A:p.T160T,NA,NA,NA,NA,NA,NA
chr16,57760015,57760015,G,T,P238571_F,DRC7,Missense_Mutation,NM_001289163,exon12,c.G1599T,p.K533N,SNP,SNVindel,exonic,DRC7,NA,nonsynonymous SNV,"DRC7:NM_001289163:exon12:c.G1599T:p.K533N,DRC7:NM_032269:exon13:c.G1794T:p.K598N,DRC7:NM_001289162:exon14:c.G1794T:p.K598N",T,D,N,T,D,T
chr16,68048222,68048222,G,A,P238571_F,DPEP2NB,Missense_Mutation,NM_001282442,exon2,c.C161T,p.T54M,SNP,SNVindel,exonic,DPEP2NB,NA,nonsynonymous SNV,DPEP2NB:NM_001282442:exon2:c.C161T:p.T54M,NA,NA,NA,NA,NA,NA
chr17,4804844,4804844,C,T,P238571_F,CHRNE,Missense_Mutation,NM_000080,exon6,c.G577A,p.D193N,SNP,SNVindel,exonic,CHRNE,NA,nonsynonymous SNV,CHRNE:NM_000080:exon6:c.G577A:p.D193N,T,N,D,T,N,T
chr17,6930088,6930088,G,A,P238571_F,BCL6B,Silent,NM_181844,exon7,c.G1119A,p.T373T,SNP,SNVindel,exonic,BCL6B,NA,synonymous SNV,BCL6B:NM_181844:exon7:c.G1119A:p.T373T,NA,NA,NA,NA,NA,NA
chr17,7577120,7577120,C,T,P238571_F,TP53,Missense_Mutation,NM_001126115,exon4,c.G422A,p.R141H,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon4:c.G422A:p.R141H,TP53:NM_001126116:exon4:c.G422A:p.R141H,TP53:NM_001126117:exon4:c.G422A:p.R141H,TP53:NM_001276697:exon4:c.G341A:p.R114H,TP53:NM_001276698:exon4:c.G341A:p.R114H,TP53:NM_001276699:exon4:c.G341A:p.R114H,TP53:NM_001126118:exon7:c.G701A:p.R234H,TP53:NM_000546:exon8:c.G818A:p.R273H,TP53:NM_001126112:exon8:c.G818A:p.R273H,TP53:NM_001126113:exon8:c.G818A:p.R273H,TP53:NM_001126114:exon8:c.G818A:p.R273H,TP53:NM_001276695:exon8:c.G701A:p.R234H,TP53:NM_001276696:exon8:c.G701A:p.R234H,TP53:NM_001276760:exon8:c.G701A:p.R234H,TP53:NM_001276761:exon8:c.G701A:p.R234H",D,D,A,D,D,D
chr17,21101655,21101655,G,A,P238571_F,TMEM11,Silent,NM_003876,exon2,c.C561T,p.Y187Y,SNP,SNVindel,exonic,TMEM11,NA,synonymous SNV,TMEM11:NM_003876:exon2:c.C561T:p.Y187Y,NA,NA,NA,NA,NA,NA
chr19,4817936,4817936,G,C,P238571_F,TICAM1,Missense_Mutation,NM_182919,exon2,c.C454G,p.P152A,SNP,SNVindel,exonic,TICAM1,NA,nonsynonymous SNV,TICAM1:NM_182919:exon2:c.C454G:p.P152A,T,N,N,T,N,T
chr19,7117246,7117246,T,C,P238571_F,INSR,Missense_Mutation,NM_001079817,exon21,c.A3934G,p.M1312V,SNP,SNVindel,exonic,INSR,NA,nonsynonymous SNV,"INSR:NM_001079817:exon21:c.A3934G:p.M1312V,INSR:NM_000208:exon22:c.A3970G:p.M1324V",T,D,D,T,N,T
chr19,9058291,9058291,G,A,P238571_F,MUC16,Missense_Mutation,NM_024690,exon3,c.C29155T,p.R9719C,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon3:c.C29155T:p.R9719C,D,.,N,T,N,T
chr19,37203364,37203364,C,G,P238571_F,ZNF567,Missense_Mutation,NM_001300979,exon4,c.C86G,p.T29S,SNP,SNVindel,exonic,ZNF567,NA,nonsynonymous SNV,"ZNF567:NM_001300979:exon4:c.C86G:p.T29S,ZNF567:NM_001322913:exon4:c.C86G:p.T29S,ZNF567:NM_001322914:exon4:c.C86G:p.T29S,ZNF567:NM_001322916:exon4:c.C86G:p.T29S,ZNF567:NM_001322917:exon4:c.C86G:p.T29S,ZNF567:NM_001322919:exon4:c.C86G:p.T29S,ZNF567:NM_001322915:exon5:c.C86G:p.T29S,ZNF567:NM_001322918:exon5:c.C86G:p.T29S,ZNF567:NM_001322920:exon5:c.C86G:p.T29S",T,.,D,T,N,T
chr19,38682943,38682943,A,G,P238571_F,SIPA1L3,Missense_Mutation,NM_015073,exon17,c.A4589G,p.D1530G,SNP,SNVindel,exonic,SIPA1L3,NA,nonsynonymous SNV,SIPA1L3:NM_015073:exon17:c.A4589G:p.D1530G,T,N,D,T,N,T
chr19,39899143,39899143,G,C,P238571_F,ZFP36,Missense_Mutation,NM_003407,exon2,c.G785C,p.W262S,SNP,SNVindel,exonic,ZFP36,NA,nonsynonymous SNV,ZFP36:NM_003407:exon2:c.G785C:p.W262S,.,U,D,T,.,T
chr19,58067719,58067719,C,G,P238571_F,ZNF550,Missense_Mutation,NM_001277090,exon2,c.G34C,p.V12L,SNP,SNVindel,exonic,ZNF550,NA,nonsynonymous SNV,"ZNF550:NM_001277090:exon2:c.G34C:p.V12L,ZNF550:NM_001277091:exon2:c.G34C:p.V12L,ZNF550:NM_001277092:exon2:c.G34C:p.V12L,ZNF550:NM_001277093:exon2:c.G34C:p.V12L",T,.,N,T,N,T
chr22,29095892,29095892,C,G,P238571_F,CHEK2,Silent,NM_001349956,exon8,c.G741C,p.V247V,SNP,SNVindel,exonic,CHEK2,NA,synonymous SNV,"CHEK2:NM_001349956:exon8:c.G741C:p.V247V,CHEK2:NM_007194:exon9:c.G942C:p.V314V,CHEK2:NM_145862:exon9:c.G942C:p.V314V,CHEK2:NM_001005735:exon10:c.G1071C:p.V357V,CHEK2:NM_001257387:exon10:c.G279C:p.V93V",NA,NA,NA,NA,NA,NA
chrX,19032089,19032089,G,C,P238571_F,ADGRG2,Missense_Mutation,NM_001184835,exon13,c.C700G,p.Q234E,SNP,SNVindel,exonic,ADGRG2,NA,nonsynonymous SNV,"ADGRG2:NM_001184835:exon13:c.C700G:p.Q234E,ADGRG2:NM_001079860:exon14:c.C748G:p.Q250E,ADGRG2:NM_001184836:exon14:c.C742G:p.Q248E,ADGRG2:NM_001184837:exon14:c.C724G:p.Q242E,ADGRG2:NM_001079859:exon15:c.C772G:p.Q258E,ADGRG2:NM_001184833:exon15:c.C766G:p.Q256E,ADGRG2:NM_001079858:exon16:c.C814G:p.Q272E,ADGRG2:NM_001184834:exon16:c.C814G:p.Q272E,ADGRG2:NM_005756:exon16:c.C805G:p.Q269E",D,N,N,T,N,T
chrX,53574889,53574889,A,G,P238571_F,HUWE1,Missense_Mutation,NM_031407,exon68,c.T10381C,p.S3461P,SNP,SNVindel,exonic,HUWE1,NA,nonsynonymous SNV,HUWE1:NM_031407:exon68:c.T10381C:p.S3461P,D,N,D,T,D,T
chrX,69479077,69479077,C,T,P238571_F,P2RY4,Missense_Mutation,NM_002565,exon1,c.G398A,p.R133H,SNP,SNVindel,exonic,P2RY4,NA,nonsynonymous SNV,P2RY4:NM_002565:exon1:c.G398A:p.R133H,D,U,D,D,D,D
chrX,76938136,76938136,G,C,P238571_F,ATRX,Nonsense_Mutation,NM_138270,exon8,c.C2498G,p.S833X,SNP,SNVindel,exonic,ATRX,NA,stopgain,"ATRX:NM_138270:exon8:c.C2498G:p.S833X,ATRX:NM_000489:exon9:c.C2612G:p.S871X",.,N,A,.,.,.
chr1,23769011,23769011,G,A,P238571_S,ASAP3,Nonsense_Mutation,NM_001143778,exon5,c.C541T,p.Q181X,SNP,SNVindel,exonic,ASAP3,NA,stopgain,"ASAP3:NM_001143778:exon5:c.C541T:p.Q181X,ASAP3:NM_017707:exon6:c.C568T:p.Q190X",.,D,A,.,.,.
chr1,55166950,55166950,G,A,P238571_S,MROH7,Silent,NM_001291332,exon17,c.G1794A,p.A598A,SNP,SNVindel,exonic,MROH7,NA,synonymous SNV,"MROH7:NM_001291332:exon17:c.G1794A:p.A598A,MROH7:NM_001039464:exon19:c.G3240A:p.A1080A",NA,NA,NA,NA,NA,NA
chr1,89449222,89449222,C,T,P238571_S,RBMXL1,Silent,NM_019610,exon2,c.G288A,p.P96P,SNP,SNVindel,exonic,RBMXL1,NA,synonymous SNV,"RBMXL1:NM_019610:exon2:c.G288A:p.P96P,RBMXL1:NM_001162536:exon3:c.G288A:p.P96P",NA,NA,NA,NA,NA,NA
chr1,115151491,115151491,C,T,P238571_S,DENND2C,Missense_Mutation,NM_198459,exon7,c.G1202A,p.R401H,SNP,SNVindel,exonic,DENND2C,NA,nonsynonymous SNV,"DENND2C:NM_198459:exon7:c.G1202A:p.R401H,DENND2C:NM_001256404:exon10:c.G1373A:p.R458H",T,N,D,T,N,T
chr1,120497760,120497760,A,G,P238571_S,NOTCH2,Missense_Mutation,NM_001200001,exon13,c.T2122C,p.C708R,SNP,SNVindel,exonic,NOTCH2,NA,nonsynonymous SNV,"NOTCH2:NM_001200001:exon13:c.T2122C:p.C708R,NOTCH2:NM_024408:exon13:c.T2122C:p.C708R",D,U,D,D,D,D
chr1,145323672,145323672,A,G,P238571_S,NBPF10,Missense_Mutation,NM_001039703,exon29,c.A3734G,p.E1245G,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon29:c.A3734G:p.E1245G,NBPF10:NM_001302371:exon29:c.A3734G:p.E1245G",.,.,.,.,.,.
chr1,146639415,146639415,T,C,P238571_S,PRKAB2,Missense_Mutation,NM_005399,exon3,c.A254G,p.E85G,SNP,SNVindel,exonic,PRKAB2,NA,nonsynonymous SNV,PRKAB2:NM_005399:exon3:c.A254G:p.E85G,T,D,D,.,N,T
chr1,148343792,148343792,C,A,P238571_S,NBPF14,Missense_Mutation,NM_001351372,exon3,c.G295T,p.V99F,SNP,SNVindel,exonic,NBPF14;NBPF19;NBPF26,NA,nonsynonymous SNV,"NBPF26:NM_001351372:exon3:c.G295T:p.V99F,NBPF14:NM_015383:exon3:c.G295T:p.V99F",.,.,.,.,.,T
chr1,161162025,161162025,T,G,P238571_S,ADAMTS4,Silent,NM_001320336,exon8,c.A1917C,p.V639V,SNP,SNVindel,exonic,ADAMTS4,NA,synonymous SNV,"ADAMTS4:NM_001320336:exon8:c.A1917C:p.V639V,ADAMTS4:NM_005099:exon8:c.A1917C:p.V639V",NA,NA,NA,NA,NA,NA
chr1,193202267,193202267,A,G,P238571_S,CDC73,Silent,NM_024529,exon14,c.A1299G,p.K433K,SNP,SNVindel,exonic,CDC73,NA,synonymous SNV,CDC73:NM_024529:exon14:c.A1299G:p.K433K,NA,NA,NA,NA,NA,NA
chr1,201043650,201043650,G,A,P238571_S,CACNA1S,Missense_Mutation,NM_000069,exon14,c.C2047T,p.R683C,SNP,SNVindel,exonic,CACNA1S,NA,nonsynonymous SNV,CACNA1S:NM_000069:exon14:c.C2047T:p.R683C,D,N,D,D,D,D
chr1,215940074,215940074,A,T,P238571_S,USH2A,Missense_Mutation,NM_206933,exon56,c.T10996A,p.C3666S,SNP,SNVindel,exonic,USH2A,NA,nonsynonymous SNV,USH2A:NM_206933:exon56:c.T10996A:p.C3666S,D,U,D,T,D,T
chr1,248637443,248637443,C,T,P238571_S,OR2T3,Silent,NM_001005495,exon1,c.C792T,p.Y264Y,SNP,SNVindel,exonic,OR2T3,NA,synonymous SNV,OR2T3:NM_001005495:exon1:c.C792T:p.Y264Y,NA,NA,NA,NA,NA,NA
chr2,202359071,202359071,G,C,P238571_S,C2CD6,Missense_Mutation,NM_001168221,exon15,c.C1993G,p.H665D,SNP,SNVindel,exonic,C2CD6,NA,nonsynonymous SNV,C2CD6:NM_001168221:exon15:c.C1993G:p.H665D,T,.,N,T,N,T
chr2,209113112,209113112,C,T,P238571_S,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr3,101085578,101085578,C,T,P238571_S,SENP7,Silent,NM_001282803,exon6,c.G522A,p.E174E,SNP,SNVindel,exonic,SENP7,NA,synonymous SNV,"SENP7:NM_001282803:exon6:c.G522A:p.E174E,SENP7:NM_001077203:exon8:c.G819A:p.E273E,SENP7:NM_001282801:exon8:c.G816A:p.E272E,SENP7:NM_001282802:exon8:c.G915A:p.E305E,SENP7:NM_020654:exon9:c.G1014A:p.E338E",NA,NA,NA,NA,NA,NA
chr4,100451078,100451078,C,T,P238571_S,C4orf17,Missense_Mutation,NM_032149,exon5,c.C509T,p.T170I,SNP,SNVindel,exonic,C4orf17,NA,nonsynonymous SNV,C4orf17:NM_032149:exon5:c.C509T:p.T170I,T,D,N,T,N,T
chr5,1085381,1085381,C,T,P238571_S,SLC12A7,Missense_Mutation,NM_006598,exon7,c.G883A,p.V295I,SNP,SNVindel,exonic,SLC12A7,NA,nonsynonymous SNV,SLC12A7:NM_006598:exon7:c.G883A:p.V295I,T,D,D,D,N,D
chr5,140237769,140237769,G,A,P238571_S,PCDHA10,Silent,NM_018901,exon1,c.G2136A,p.T712T,SNP,SNVindel,exonic,PCDHA10,NA,synonymous SNV,"PCDHA10:NM_018901:exon1:c.G2136A:p.T712T,PCDHA10:NM_031859:exon1:c.G2136A:p.T712T",NA,NA,NA,NA,NA,NA
chr5,149460571,149460571,C,T,P238571_S,CSF1R,Silent,NM_001288705,exon2,c.G66A,p.V22V,SNP,SNVindel,exonic,CSF1R,NA,synonymous SNV,"CSF1R:NM_001288705:exon2:c.G66A:p.V22V,CSF1R:NM_005211:exon3:c.G66A:p.V22V,CSF1R:NM_001349736:exon4:c.G66A:p.V22V",NA,NA,NA,NA,NA,NA
chr5,176306404,176306404,C,T,P238571_S,UNC5A,Missense_Mutation,NM_133369,exon14,c.C2278T,p.R760W,SNP,SNVindel,exonic,UNC5A,NA,nonsynonymous SNV,UNC5A:NM_133369:exon14:c.C2278T:p.R760W,D,D,D,T,D,T
chr5,176830258,176830258,C,A,P238571_S,F12,Nonsense_Mutation,NM_000505,exon12,c.G1528T,p.E510X,SNP,SNVindel,exonic,F12,NA,stopgain,F12:NM_000505:exon12:c.G1528T:p.E510X,.,N,A,.,.,.
chr6,7211105,7211105,G,A,P238571_S,RREB1,Missense_Mutation,NM_001003698,exon7,c.G494A,p.R165H,SNP,SNVindel,exonic,RREB1,NA,nonsynonymous SNV,"RREB1:NM_001003698:exon7:c.G494A:p.R165H,RREB1:NM_001003699:exon7:c.G494A:p.R165H,RREB1:NM_001003700:exon7:c.G494A:p.R165H,RREB1:NM_001168344:exon7:c.G494A:p.R165H",D,D,D,T,D,T
chr6,11185662,11185662,G,C,P238571_S,NEDD9,Missense_Mutation,NM_001271033,exon6,c.C1791G,p.S597R,SNP,SNVindel,exonic,NEDD9,NA,nonsynonymous SNV,"NEDD9:NM_001271033:exon6:c.C1791G:p.S597R,NEDD9:NM_006403:exon7:c.C2238G:p.S746R,NEDD9:NM_001142393:exon8:c.C2238G:p.S746R",D,D,D,T,D,T
chr6,33543186,33543186,A,C,P238571_S,BAK1,Missense_Mutation,NM_001188,exon4,c.T239G,p.I80S,SNP,SNVindel,exonic,BAK1,NA,nonsynonymous SNV,BAK1:NM_001188:exon4:c.T239G:p.I80S,T,N,D,T,D,T
chr6,46684764,46684764,T,C,P238571_S,PLA2G7,Missense_Mutation,NM_001168357,exon3,c.A179G,p.N60S,SNP,SNVindel,exonic,PLA2G7,NA,nonsynonymous SNV,"PLA2G7:NM_001168357:exon3:c.A179G:p.N60S,PLA2G7:NM_005084:exon3:c.A179G:p.N60S",T,N,D,T,N,T
chr7,102453977,102453977,T,C,P238571_S,FBXL13,Missense_Mutation,NM_001111038,exon19,c.A1885G,p.K629E,SNP,SNVindel,exonic,FBXL13,NA,nonsynonymous SNV,"FBXL13:NM_001111038:exon19:c.A1885G:p.K629E,FBXL13:NM_001287150:exon19:c.A1936G:p.K646E,FBXL13:NM_145032:exon20:c.A2020G:p.K674E",T,N,N,T,N,T
chr7,141795484,141795484,C,T,P238571_S,MGAM,Silent,NM_004668,exon41,c.C4890T,p.G1630G,SNP,SNVindel,exonic,MGAM,NA,synonymous SNV,"MGAM:NM_004668:exon41:c.C4890T:p.G1630G,MGAM:NM_001365693:exon64:c.C7578T:p.G2526G",NA,NA,NA,NA,NA,NA
chr7,150767377,150767377,G,A,P238571_S,SLC4A2,Missense_Mutation,NM_001199693,exon9,c.G1366A,p.V456I,SNP,SNVindel,exonic,SLC4A2,NA,nonsynonymous SNV,"SLC4A2:NM_001199693:exon9:c.G1366A:p.V456I,SLC4A2:NM_001199694:exon9:c.G1351A:p.V451I,SLC4A2:NM_001199692:exon10:c.G1393A:p.V465I,SLC4A2:NM_003040:exon10:c.G1393A:p.V465I",T,D,D,T,N,T
chr8,33246514,33246514,G,A,P238571_S,FUT10,Silent,NM_032664,exon4,c.C1179T,p.T393T,SNP,SNVindel,exonic,FUT10,NA,synonymous SNV,FUT10:NM_032664:exon4:c.C1179T:p.T393T,NA,NA,NA,NA,NA,NA
chr8,144808667,144808667,T,A,P238571_S,FAM83H,Silent,NM_198488,exon5,c.A2964T,p.P988P,SNP,SNVindel,exonic,FAM83H,NA,synonymous SNV,FAM83H:NM_198488:exon5:c.A2964T:p.P988P,NA,NA,NA,NA,NA,NA
chr9,107298314,107298314,C,T,P238571_S,OR13C3,Missense_Mutation,NM_001001961,exon1,c.G781A,p.A261T,SNP,SNVindel,exonic,OR13C3,NA,nonsynonymous SNV,OR13C3:NM_001001961:exon1:c.G781A:p.A261T,T,U,N,T,N,T
chr9,111617580,111617580,C,T,P238571_S,ACTL7B,Missense_Mutation,NM_006686,exon1,c.G631A,p.E211K,SNP,SNVindel,exonic,ACTL7B,NA,nonsynonymous SNV,ACTL7B:NM_006686:exon1:c.G631A:p.E211K,D,N,D,D,D,D
chr11,31312260,31312260,C,T,P238571_S,DCDC1,Silent,NM_001367979,exon7,c.G894A,p.L298L,SNP,SNVindel,exonic,DCDC1,NA,synonymous SNV,"DCDC1:NM_001367979:exon7:c.G894A:p.L298L,DCDC1:NM_181807:exon7:c.G894A:p.L298L",NA,NA,NA,NA,NA,NA
chr11,50003137,50003137,T,C,P238571_S,OR4C12,Missense_Mutation,NM_001005270,exon1,c.A901G,p.R301G,SNP,SNVindel,exonic,OR4C12,NA,nonsynonymous SNV,OR4C12:NM_001005270:exon1:c.A901G:p.R301G,T,U,N,T,N,T
chr11,55761737,55761737,C,T,P238571_S,OR5F1,Missense_Mutation,NM_003697,exon1,c.G365A,p.R122K,SNP,SNVindel,exonic,OR5F1,NA,nonsynonymous SNV,OR5F1:NM_003697:exon1:c.G365A:p.R122K,D,.,D,T,D,D
chr11,63277315,63277315,G,A,P238571_S,LGALS12,Silent,NM_001142537,exon3,c.G321A,p.T107T,SNP,SNVindel,exonic,LGALS12,NA,synonymous SNV,"LGALS12:NM_001142537:exon3:c.G321A:p.T107T,LGALS12:NM_001142538:exon3:c.G321A:p.T107T,LGALS12:NM_001142535:exon4:c.G441A:p.T147T,LGALS12:NM_001142536:exon4:c.G438A:p.T146T,LGALS12:NM_033101:exon4:c.G438A:p.T146T",NA,NA,NA,NA,NA,NA
chr11,64504445,64504445,C,T,P238571_S,RASGRP2,Missense_Mutation,NM_001098670,exon9,c.G875A,p.R292Q,SNP,SNVindel,exonic,RASGRP2,NA,nonsynonymous SNV,"RASGRP2:NM_001098670:exon9:c.G875A:p.R292Q,RASGRP2:NM_001098671:exon9:c.G875A:p.R292Q,RASGRP2:NM_001318398:exon9:c.G440A:p.R147Q,RASGRP2:NM_153819:exon9:c.G875A:p.R292Q",T,D,D,T,N,T
chr11,124949117,124949117,G,A,P238571_S,SLC37A2,Missense_Mutation,NM_001145290,exon5,c.G424A,p.E142K,SNP,SNVindel,exonic,SLC37A2,NA,nonsynonymous SNV,"SLC37A2:NM_001145290:exon5:c.G424A:p.E142K,SLC37A2:NM_198277:exon5:c.G424A:p.E142K",T,N,N,T,N,T
chr12,31237585,31237585,G,T,P238571_S,DDX11,Missense_Mutation,NM_001257144,exon4,c.G462T,p.K154N,SNP,SNVindel,exonic,DDX11,NA,nonsynonymous SNV,"DDX11:NM_001257144:exon4:c.G462T:p.K154N,DDX11:NM_001257145:exon4:c.G384T:p.K128N,DDX11:NM_004399:exon4:c.G462T:p.K154N,DDX11:NM_030653:exon4:c.G462T:p.K154N,DDX11:NM_152438:exon4:c.G462T:p.K154N",T,N,N,T,N,T
chr12,112608238,112608238,G,A,P238571_S,HECTD4,Missense_Mutation,NM_001109662,exon69,c.C11981T,p.T3994M,SNP,SNVindel,exonic,HECTD4,NA,nonsynonymous SNV,HECTD4:NM_001109662:exon69:c.C11981T:p.T3994M,D,.,D,T,D,T
chr13,103401199,103401199,T,C,P238571_S,CCDC168,Silent,NM_001146197,exon4,c.A1848G,p.L616L,SNP,SNVindel,exonic,CCDC168,NA,synonymous SNV,CCDC168:NM_001146197:exon4:c.A1848G:p.L616L,NA,NA,NA,NA,NA,NA
chr14,24458283,24458283,G,T,P238571_S,DHRS4L2,Missense_Mutation,NM_198083,exon1,c.G127T,p.G43W,SNP,SNVindel,exonic,DHRS4L2,NA,nonsynonymous SNV,DHRS4L2:NM_198083:exon1:c.G127T:p.G43W,D,D,D,D,D,D
chr15,30905335,30905335,G,C,P238571_S,GOLGA8H,Missense_Mutation,NM_001282490,exon15,c.G1305C,p.E435D,SNP,SNVindel,exonic,GOLGA8H,NA,nonsynonymous SNV,GOLGA8H:NM_001282490:exon15:c.G1305C:p.E435D,T,.,N,D,N,.
chr16,745607,745607,T,C,P238571_S,FBXL16,Missense_Mutation,NM_153350,exon3,c.A950G,p.H317R,SNP,SNVindel,exonic,FBXL16,NA,nonsynonymous SNV,FBXL16:NM_153350:exon3:c.A950G:p.H317R,T,D,D,T,D,T
chr16,24373055,24373055,G,T,P238571_S,CACNG3,Missense_Mutation,NM_006539,exon4,c.G819T,p.K273N,SNP,SNVindel,exonic,CACNG3,NA,nonsynonymous SNV,CACNG3:NM_006539:exon4:c.G819T:p.K273N,T,D,D,T,D,T
chr16,67682876,67682876,C,T,P238571_S,CARMIL2,Silent,NM_001013838,exon17,c.C1590T,p.N530N,SNP,SNVindel,exonic,CARMIL2,NA,synonymous SNV,"CARMIL2:NM_001013838:exon17:c.C1590T:p.N530N,CARMIL2:NM_001317026:exon18:c.C1482T:p.N494N",NA,NA,NA,NA,NA,NA
chr17,4804844,4804844,C,T,P238571_S,CHRNE,Missense_Mutation,NM_000080,exon6,c.G577A,p.D193N,SNP,SNVindel,exonic,CHRNE,NA,nonsynonymous SNV,CHRNE:NM_000080:exon6:c.G577A:p.D193N,T,N,D,T,N,T
chr17,7577120,7577120,C,T,P238571_S,TP53,Missense_Mutation,NM_001126115,exon4,c.G422A,p.R141H,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon4:c.G422A:p.R141H,TP53:NM_001126116:exon4:c.G422A:p.R141H,TP53:NM_001126117:exon4:c.G422A:p.R141H,TP53:NM_001276697:exon4:c.G341A:p.R114H,TP53:NM_001276698:exon4:c.G341A:p.R114H,TP53:NM_001276699:exon4:c.G341A:p.R114H,TP53:NM_001126118:exon7:c.G701A:p.R234H,TP53:NM_000546:exon8:c.G818A:p.R273H,TP53:NM_001126112:exon8:c.G818A:p.R273H,TP53:NM_001126113:exon8:c.G818A:p.R273H,TP53:NM_001126114:exon8:c.G818A:p.R273H,TP53:NM_001276695:exon8:c.G701A:p.R234H,TP53:NM_001276696:exon8:c.G701A:p.R234H,TP53:NM_001276760:exon8:c.G701A:p.R234H,TP53:NM_001276761:exon8:c.G701A:p.R234H",D,D,A,D,D,D
chr17,7915490,7915490,C,T,P238571_S,GUCY2D,Missense_Mutation,NM_000180,exon9,c.C1778T,p.A593V,SNP,SNVindel,exonic,GUCY2D,NA,nonsynonymous SNV,GUCY2D:NM_000180:exon9:c.C1778T:p.A593V,D,N,D,T,N,T
chr17,7915491,7915491,C,T,P238571_S,GUCY2D,Silent,NM_000180,exon9,c.C1779T,p.A593A,SNP,SNVindel,exonic,GUCY2D,NA,synonymous SNV,GUCY2D:NM_000180:exon9:c.C1779T:p.A593A,NA,NA,NA,NA,NA,NA
chr17,17415962,17415962,C,T,P238571_S,PEMT,Silent,NM_001267551,exon4,c.G261A,p.T87T,SNP,SNVindel,exonic,PEMT,NA,synonymous SNV,"PEMT:NM_001267551:exon4:c.G261A:p.T87T,PEMT:NM_001267552:exon4:c.G327A:p.T109T,PEMT:NM_007169:exon4:c.G216A:p.T72T,PEMT:NM_148172:exon4:c.G327A:p.T109T,PEMT:NM_148173:exon4:c.G216A:p.T72T",NA,NA,NA,NA,NA,NA
chr17,42851930,42851930,A,G,P238571_S,ADAM11,Missense_Mutation,NM_001318933,exon13,c.A548G,p.N183S,SNP,SNVindel,exonic,ADAM11,NA,nonsynonymous SNV,"ADAM11:NM_001318933:exon13:c.A548G:p.N183S,ADAM11:NM_002390:exon13:c.A1148G:p.N383S",D,D,D,T,N,T
chr17,78280979,78280979,C,G,P238571_S,RNF213,Missense_Mutation,NM_001256071,exon13,c.C2479G,p.L827V,SNP,SNVindel,exonic,RNF213,NA,nonsynonymous SNV,"RNF213:NM_001256071:exon13:c.C2479G:p.L827V,RNF213:NM_020954:exon13:c.C2479G:p.L827V",D,N,N,T,N,T
chr18,14542693,14542693,C,T,P238571_S,POTEC,Silent,NM_001137671,exon1,c.G453A,p.K151K,SNP,SNVindel,exonic,POTEC,NA,synonymous SNV,POTEC:NM_001137671:exon1:c.G453A:p.K151K,NA,NA,NA,NA,NA,NA
chr19,9058291,9058291,G,A,P238571_S,MUC16,Missense_Mutation,NM_024690,exon3,c.C29155T,p.R9719C,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon3:c.C29155T:p.R9719C,D,.,N,T,N,T
chr19,9070331,9070331,C,T,P238571_S,MUC16,Silent,NM_024690,exon3,c.G17115A,p.A5705A,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon3:c.G17115A:p.A5705A,NA,NA,NA,NA,NA,NA
chr19,9091216,9091216,G,C,P238571_S,MUC16,Missense_Mutation,NM_024690,exon1,c.C599G,p.T200S,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.C599G:p.T200S,D,.,N,T,N,T
chr19,32083697,32083697,G,A,P238571_S,THEG5,Missense_Mutation,NM_001205273,exon2,c.G199A,p.A67T,SNP,SNVindel,exonic,THEG5,NA,nonsynonymous SNV,"THEG5:NM_001205273:exon2:c.G199A:p.A67T,THEG5:NM_001278575:exon3:c.G175A:p.A59T,THEG5:NM_001278578:exon3:c.G175A:p.A59T,THEG5:NM_001278576:exon4:c.G175A:p.A59T,THEG5:NM_001278577:exon4:c.G175A:p.A59T",NA,NA,NA,NA,NA,NA
chr19,40430352,40430352,C,T,P238571_S,FCGBP,Missense_Mutation,NM_003890,exon3,c.G1591A,p.V531I,SNP,SNVindel,exonic,FCGBP,NA,nonsynonymous SNV,FCGBP:NM_003890:exon3:c.G1591A:p.V531I,.,U,D,.,.,T
chr20,57428503,57428503,C,T,P238571_S,GNAS,Silent,NM_080425,exon1,c.C183T,p.V61V,SNP,SNVindel,exonic,GNAS,NA,synonymous SNV,GNAS:NM_080425:exon1:c.C183T:p.V61V,NA,NA,NA,NA,NA,NA
chr21,44492235,44492235,C,T,P238571_S,CBS,Silent,NM_000071,exon3,c.G69A,p.S23S,SNP,SNVindel,exonic,CBS;CBSL,NA,synonymous SNV,"CBS:NM_000071:exon3:c.G69A:p.S23S,CBS:NM_001178008:exon3:c.G69A:p.S23S,CBS:NM_001178009:exon3:c.G69A:p.S23S,CBSL:NM_001321073:exon3:c.G69A:p.S23S,CBSL:NM_001354008:exon3:c.G69A:p.S23S,CBSL:NM_001354009:exon3:c.G69A:p.S23S,CBSL:NM_001354010:exon3:c.G69A:p.S23S,CBSL:NM_001354012:exon3:c.G69A:p.S23S,CBSL:NM_001354014:exon3:c.G69A:p.S23S,CBSL:NM_001354015:exon3:c.G69A:p.S23S,CBS:NM_001320298:exon4:c.G69A:p.S23S,CBSL:NM_001354006:exon4:c.G69A:p.S23S,CBSL:NM_001354007:exon4:c.G69A:p.S23S",NA,NA,NA,NA,NA,NA
chr22,31032723,31032723,C,G,P238571_S,SLC35E4,Missense_Mutation,NM_001001479,exon1,c.C286G,p.R96G,SNP,SNVindel,exonic,SLC35E4,NA,nonsynonymous SNV,"SLC35E4:NM_001001479:exon1:c.C286G:p.R96G,SLC35E4:NM_001318370:exon1:c.C286G:p.R96G,SLC35E4:NM_001318371:exon1:c.C286G:p.R96G",T,N,N,T,N,T
chrX,76938673,76938673,G,C,P238571_S,ATRX,Nonsense_Mutation,NM_138270,exon8,c.C1961G,p.S654X,SNP,SNVindel,exonic,ATRX,NA,stopgain,"ATRX:NM_138270:exon8:c.C1961G:p.S654X,ATRX:NM_000489:exon9:c.C2075G:p.S692X",.,N,A,.,.,.
chrX,152991059,152991059,G,A,P238571_S,ABCD1,Missense_Mutation,NM_000033,exon1,c.G338A,p.R113H,SNP,SNVindel,exonic,ABCD1,NA,nonsynonymous SNV,ABCD1:NM_000033:exon1:c.G338A:p.R113H,T,N,N,D,N,T
chr1,16892277,16892277,G,A,P243757_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,16893763,16893763,T,C,P243757_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,16902844,16902844,G,T,P243757_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,144856817,144856817,T,C,P243757_F,PDE4DIP,Missense_Mutation,NM_001350520,exon36,c.A7154G,p.E2385G,SNP,SNVindel,exonic,PDE4DIP,NA,nonsynonymous SNV,"PDE4DIP:NM_001350520:exon36:c.A7154G:p.E2385G,PDE4DIP:NM_001198834:exon40:c.A6668G:p.E2223G,PDE4DIP:NM_014644:exon40:c.A6668G:p.E2223G,PDE4DIP:NM_001350522:exon41:c.A6509G:p.E2170G,PDE4DIP:NM_001198832:exon42:c.A6350G:p.E2117G,PDE4DIP:NM_001350521:exon42:c.A6962G:p.E2321G,PDE4DIP:NM_001350523:exon42:c.A6347G:p.E2116G",.,.,.,.,.,.
chr1,168161455,168161455,G,A,P243757_F,TIPRL,Missense_Mutation,NM_001031800,exon5,c.G526A,p.G176R,SNP,SNVindel,exonic,TIPRL,NA,nonsynonymous SNV,TIPRL:NM_001031800:exon5:c.G526A:p.G176R,T,.,N,.,N,T
chr1,168161459,168161459,A,G,P243757_F,TIPRL,Missense_Mutation,NM_001031800,exon5,c.A530G,p.H177R,SNP,SNVindel,exonic,TIPRL,NA,nonsynonymous SNV,TIPRL:NM_001031800:exon5:c.A530G:p.H177R,T,.,N,.,N,T
chr1,207520897,207520897,A,G,P243757_F,CD55,Missense_Mutation,NM_001300903,exon10,c.A1187G,p.H396R,SNP,SNVindel,exonic,CD55,NA,nonsynonymous SNV,CD55:NM_001300903:exon10:c.A1187G:p.H396R,NA,NA,NA,NA,NA,NA
chr2,25467448,25467448,C,A,P243757_F,DNMT3A,Missense_Mutation,NM_001320893,exon9,c.G1172T,p.G391V,SNP,SNVindel,exonic,DNMT3A,NA,nonsynonymous SNV,"DNMT3A:NM_001320893:exon9:c.G1172T:p.G391V,DNMT3A:NM_153759:exon10:c.G1061T:p.G354V,DNMT3A:NM_022552:exon14:c.G1628T:p.G543V,DNMT3A:NM_175629:exon14:c.G1628T:p.G543V",D,D,D,T,D,D
chr2,107429600,107429600,A,G,P243757_F,ST6GAL2,Nonstop_Mutation,NM_001142352,exon6,c.T1399C,p.X467R,SNP,SNVindel,exonic,ST6GAL2,NA,stoploss,ST6GAL2:NM_001142352:exon6:c.T1399C:p.X467R,.,.,N,.,.,.
chr2,163374492,163374492,C,T,P243757_F,KCNH7,Missense_Mutation,NM_033272,exon4,c.G640A,p.D214N,SNP,SNVindel,exonic,KCNH7,NA,nonsynonymous SNV,"KCNH7:NM_033272:exon4:c.G640A:p.D214N,KCNH7:NM_173162:exon4:c.G640A:p.D214N",T,D,D,D,N,D
chr2,179451259,179451259,C,T,P243757_F,TTN,Missense_Mutation,NM_003319,exon136,c.G37174A,p.G12392R,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon136:c.G37174A:p.G12392R,TTN:NM_133432:exon137:c.G37549A:p.G12517R,TTN:NM_133437:exon137:c.G37750A:p.G12584R,TTN:NM_133378:exon257:c.G56665A:p.G18889R,TTN:NM_001256850:exon258:c.G59446A:p.G19816R,TTN:NM_001267550:exon308:c.G64369A:p.G21457R",T,.,D,T,D,T
chr3,46714845,46714845,G,A,P243757_F,ALS2CL,Missense_Mutation,NM_001190707,exon22,c.C2456T,p.T819M,SNP,SNVindel,exonic,ALS2CL,NA,nonsynonymous SNV,"ALS2CL:NM_001190707:exon22:c.C2456T:p.T819M,ALS2CL:NM_147129:exon22:c.C2456T:p.T819M",T,N,N,T,N,T
chr3,58094188,58094188,C,T,P243757_F,FLNB,Nonsense_Mutation,NM_001164317,exon13,c.C1945T,p.R649X,SNP,SNVindel,exonic,FLNB,NA,stopgain,"FLNB:NM_001164317:exon13:c.C1945T:p.R649X,FLNB:NM_001164318:exon13:c.C1945T:p.R649X,FLNB:NM_001164319:exon13:c.C1945T:p.R649X,FLNB:NM_001457:exon13:c.C1945T:p.R649X",.,N,A,.,.,.
chr3,126747141,126747141,G,A,P243757_F,PLXNA1,Missense_Mutation,NM_032242,exon24,c.G4627A,p.V1543M,SNP,SNVindel,exonic,PLXNA1,NA,nonsynonymous SNV,PLXNA1:NM_032242:exon24:c.G4627A:p.V1543M,T,D,D,T,N,T
chr3,148596486,148596486,G,A,P243757_F,CPA3,Missense_Mutation,NM_001870,exon5,c.G425A,p.R142H,SNP,SNVindel,exonic,CPA3,NA,nonsynonymous SNV,CPA3:NM_001870:exon5:c.G425A:p.R142H,D,N,N,T,D,T
chr4,175898076,175898076,G,A,P243757_F,ADAM29,Nonsense_Mutation,NM_001278127,exon2,c.G1400A,p.W467X,SNP,SNVindel,exonic,ADAM29,NA,stopgain,"ADAM29:NM_001278127:exon2:c.G1400A:p.W467X,ADAM29:NM_001130705:exon3:c.G1400A:p.W467X,ADAM29:NM_001130703:exon4:c.G1400A:p.W467X,ADAM29:NM_001130704:exon4:c.G1400A:p.W467X,ADAM29:NM_014269:exon5:c.G1400A:p.W467X,ADAM29:NM_001278125:exon6:c.G1400A:p.W467X,ADAM29:NM_001278126:exon6:c.G1400A:p.W467X",.,U,D,.,.,.
chr4,190878589,190878589,A,G,P243757_F,FRG1,Missense_Mutation,NM_004477,exon6,c.A469G,p.I157V,SNP,SNVindel,exonic,FRG1,NA,nonsynonymous SNV,FRG1:NM_004477:exon6:c.A469G:p.I157V,T,D,D,T,N,T
chr7,7421206,7421206,C,T,P243757_F,COL28A1,Missense_Mutation,NM_001037763,exon28,c.G2174A,p.G725D,SNP,SNVindel,exonic,COL28A1,NA,nonsynonymous SNV,COL28A1:NM_001037763:exon28:c.G2174A:p.G725D,D,U,D,D,D,D
chr7,21946202,21946202,G,C,P243757_F,CDCA7L,Missense_Mutation,NM_001127371,exon4,c.C599G,p.T200S,SNP,SNVindel,exonic,CDCA7L,NA,nonsynonymous SNV,"CDCA7L:NM_001127371:exon4:c.C599G:p.T200S,CDCA7L:NM_018719:exon5:c.C737G:p.T246S,CDCA7L:NM_001127370:exon6:c.C635G:p.T212S",T,N,D,T,N,T
chr7,75130792,75130792,T,C,P243757_F,SPDYE5,Missense_Mutation,NM_001306141,exon6,c.T862C,p.W288R,SNP,SNVindel,exonic,SPDYE5,NA,nonsynonymous SNV,SPDYE5:NM_001306141:exon6:c.T862C:p.W288R,.,.,.,.,.,.
chr7,105190787,105190787,A,G,P243757_F,RINT1,Missense_Mutation,NM_001346603,exon6,c.A164G,p.N55S,SNP,SNVindel,exonic,RINT1,NA,nonsynonymous SNV,"RINT1:NM_001346603:exon6:c.A164G:p.N55S,RINT1:NM_001346599:exon9:c.A953G:p.N318S,RINT1:NM_001346600:exon9:c.A164G:p.N55S,RINT1:NM_001346601:exon9:c.A263G:p.N88S,RINT1:NM_021930:exon9:c.A1187G:p.N396S",T,N,N,T,N,T
chr8,11995457,11995457,A,G,P243757_F,USP17L2,Silent,NM_201402,exon1,c.T813C,p.T271T,SNP,SNVindel,exonic,USP17L2,NA,synonymous SNV,USP17L2:NM_201402:exon1:c.T813C:p.T271T,NA,NA,NA,NA,NA,NA
chr8,37555773,37555773,G,A,P243757_F,ZNF703,Missense_Mutation,NM_025069,exon2,c.G1354A,p.E452K,SNP,SNVindel,exonic,ZNF703,NA,nonsynonymous SNV,ZNF703:NM_025069:exon2:c.G1354A:p.E452K,D,D,D,T,N,T
chr8,70512927,70512927,C,T,P243757_F,SULF1,Missense_Mutation,NM_001128204,exon8,c.C824T,p.T275I,SNP,SNVindel,exonic,SULF1,NA,nonsynonymous SNV,"SULF1:NM_001128204:exon8:c.C824T:p.T275I,SULF1:NM_001128206:exon8:c.C824T:p.T275I,SULF1:NM_001128205:exon9:c.C824T:p.T275I,SULF1:NM_015170:exon9:c.C824T:p.T275I",D,D,D,D,D,D
chr8,70512938,70512938,C,T,P243757_F,SULF1,Nonsense_Mutation,NM_001128204,exon8,c.C835T,p.Q279X,SNP,SNVindel,exonic,SULF1,NA,stopgain,"SULF1:NM_001128204:exon8:c.C835T:p.Q279X,SULF1:NM_001128206:exon8:c.C835T:p.Q279X,SULF1:NM_001128205:exon9:c.C835T:p.Q279X,SULF1:NM_015170:exon9:c.C835T:p.Q279X",.,D,A,.,.,.
chr9,116931113,116931113,C,G,P243757_F,COL27A1,Missense_Mutation,NM_032888,exon3,c.C1278G,p.I426M,SNP,SNVindel,exonic,COL27A1,NA,nonsynonymous SNV,COL27A1:NM_032888:exon3:c.C1278G:p.I426M,D,.,N,D,N,T
chr9,133760871,133760871,C,T,P243757_F,ABL1,Missense_Mutation,NM_005157,exon11,c.C3194T,p.T1065M,SNP,SNVindel,exonic,ABL1,NA,nonsynonymous SNV,"ABL1:NM_005157:exon11:c.C3194T:p.T1065M,ABL1:NM_007313:exon11:c.C3251T:p.T1084M",D,D,D,T,N,T
chr11,6023495,6023495,G,A,P243757_F,OR56A4,Missense_Mutation,NM_001005179,exon1,c.C728T,p.T243M,SNP,SNVindel,exonic,OR56A4,NA,nonsynonymous SNV,OR56A4:NM_001005179:exon1:c.C728T:p.T243M,D,U,D,T,D,D
chr11,60971069,60971069,A,G,P243757_F,PGA3,Silent,NM_001079807,exon1,c.A33G,p.A11A,SNP,SNVindel,exonic,PGA3,NA,synonymous SNV,PGA3:NM_001079807:exon1:c.A33G:p.A11A,NA,NA,NA,NA,NA,NA
chr12,13103300,13103300,C,T,P243757_F,GPRC5D,Missense_Mutation,NM_018654,exon1,c.G19A,p.E7K,SNP,SNVindel,exonic,GPRC5D,NA,nonsynonymous SNV,GPRC5D:NM_018654:exon1:c.G19A:p.E7K,T,N,N,T,N,T
chr12,132241115,132241115,G,A,P243757_F,SFSWAP,Missense_Mutation,NM_001261411,exon11,c.G1646A,p.G549E,SNP,SNVindel,exonic,SFSWAP,NA,nonsynonymous SNV,"SFSWAP:NM_001261411:exon11:c.G1646A:p.G549E,SFSWAP:NM_004592:exon11:c.G1646A:p.G549E",T,N,N,T,N,T
chr15,30898153,30898153,G,A,P243757_F,GOLGA8H,Silent,NM_001282490,exon2,c.G156A,p.Q52Q,SNP,SNVindel,exonic,GOLGA8H,NA,synonymous SNV,GOLGA8H:NM_001282490:exon2:c.G156A:p.Q52Q,NA,NA,NA,NA,NA,NA
chr15,69007569,69007569,C,T,P243757_F,CORO2B,Missense_Mutation,NM_001190456,exon8,c.C871T,p.R291W,SNP,SNVindel,exonic,CORO2B,NA,nonsynonymous SNV,"CORO2B:NM_001190456:exon8:c.C871T:p.R291W,CORO2B:NM_001190457:exon8:c.C871T:p.R291W,CORO2B:NM_001324015:exon8:c.C871T:p.R291W,CORO2B:NM_006091:exon8:c.C886T:p.R296W,CORO2B:NM_001324014:exon9:c.C871T:p.R291W",D,D,D,T,D,T
chr15,81571928,81571928,C,T,P243757_F,IL16,Silent,NM_001172128,exon8,c.C894T,p.T298T,SNP,SNVindel,exonic,IL16,NA,synonymous SNV,"IL16:NM_001172128:exon8:c.C894T:p.T298T,IL16:NM_001352686:exon8:c.C1047T:p.T349T,IL16:NM_172217:exon8:c.C894T:p.T298T,IL16:NM_001352685:exon9:c.C384T:p.T128T",NA,NA,NA,NA,NA,NA
chr16,16228282,16228282,G,A,P243757_F,ABCC1,Missense_Mutation,NM_004996,exon28,c.G4042A,p.E1348K,SNP,SNVindel,exonic,ABCC1,NA,nonsynonymous SNV,ABCC1:NM_004996:exon28:c.G4042A:p.E1348K,T,N,N,D,N,T
chr16,28843647,28843647,C,T,P243757_F,ATXN2L,Silent,NM_001308230,exon11,c.C1461T,p.T487T,SNP,SNVindel,exonic,ATXN2L,NA,synonymous SNV,"ATXN2L:NM_001308230:exon11:c.C1461T:p.T487T,ATXN2L:NM_007245:exon11:c.C1443T:p.T481T,ATXN2L:NM_017492:exon11:c.C1443T:p.T481T,ATXN2L:NM_145714:exon11:c.C1443T:p.T481T,ATXN2L:NM_148414:exon11:c.C1443T:p.T481T,ATXN2L:NM_148415:exon11:c.C1443T:p.T481T,ATXN2L:NM_148416:exon11:c.C1443T:p.T481T",NA,NA,NA,NA,NA,NA
chr16,29888214,29888214,G,A,P243757_F,SEZ6L2,Missense_Mutation,NM_001114100,exon10,c.C1625T,p.T542M,SNP,SNVindel,exonic,SEZ6L2,NA,nonsynonymous SNV,"SEZ6L2:NM_001114100:exon10:c.C1625T:p.T542M,SEZ6L2:NM_001243333:exon11:c.C1835T:p.T612M,SEZ6L2:NM_001114099:exon12:c.C1757T:p.T586M,SEZ6L2:NM_001243332:exon12:c.C1967T:p.T656M,SEZ6L2:NM_012410:exon12:c.C1757T:p.T586M,SEZ6L2:NM_201575:exon12:c.C1967T:p.T656M",D,D,D,T,D,D
chr17,526780,526780,C,T,P243757_F,VPS53,Missense_Mutation,NM_018289,exon10,c.G1022A,p.G341E,SNP,SNVindel,exonic,VPS53,NA,nonsynonymous SNV,"VPS53:NM_018289:exon10:c.G1022A:p.G341E,VPS53:NM_001128159:exon11:c.G1109A:p.G370E,VPS53:NM_001366253:exon11:c.G1109A:p.G370E,VPS53:NM_001366254:exon12:c.G515A:p.G172E",T,D,D,T,N,T
chr17,7978988,7978988,C,T,P243757_F,ALOX12B,Missense_Mutation,NM_001139,exon12,c.G1579A,p.V527M,SNP,SNVindel,exonic,ALOX12B,NA,nonsynonymous SNV,ALOX12B:NM_001139:exon12:c.G1579A:p.V527M,D,D,D,D,D,D
chr17,26100237,26100237,G,A,P243757_F,NOS2,Silent,NM_000625,exon13,c.C1509T,p.D503D,SNP,SNVindel,exonic,NOS2,NA,synonymous SNV,NOS2:NM_000625:exon13:c.C1509T:p.D503D,NA,NA,NA,NA,NA,NA
chr17,33504628,33504628,C,T,P243757_F,UNC45B,Missense_Mutation,NM_001308281,exon14,c.C2017T,p.R673W,SNP,SNVindel,exonic,UNC45B,NA,nonsynonymous SNV,"UNC45B:NM_001308281:exon14:c.C2017T:p.R673W,UNC45B:NM_173167:exon16:c.C2260T:p.R754W,UNC45B:NM_001033576:exon17:c.C2254T:p.R752W,UNC45B:NM_001267052:exon17:c.C2254T:p.R752W",D,D,D,T,D,T
chr17,42114359,42114359,G,C,P243757_F,LSM12,Missense_Mutation,NM_001369484,exon5,c.C607G,p.P203A,SNP,SNVindel,exonic,LSM12,NA,nonsynonymous SNV,LSM12:NM_001369484:exon5:c.C607G:p.P203A,.,.,N,T,.,.
chr19,1432561,1432561,C,T,P243757_F,DAZAP1,Missense_Mutation,NM_001352035,exon10,c.C401T,p.P134L,SNP,SNVindel,exonic,DAZAP1,NA,nonsynonymous SNV,"DAZAP1:NM_001352035:exon10:c.C401T:p.P134L,DAZAP1:NM_001352033:exon11:c.C917T:p.P306L,DAZAP1:NM_001352034:exon11:c.C920T:p.P307L,DAZAP1:NM_018959:exon11:c.C920T:p.P307L,DAZAP1:NM_170711:exon11:c.C920T:p.P307L",D,D,D,T,N,T
chr19,3982904,3982904,G,A,P243757_F,EEF2,Silent,NM_001961,exon4,c.C513T,p.P171P,SNP,SNVindel,exonic,EEF2,NA,synonymous SNV,EEF2:NM_001961:exon4:c.C513T:p.P171P,NA,NA,NA,NA,NA,NA
chr19,17308608,17308608,C,T,P243757_F,MYO9B,Missense_Mutation,NM_001130065,exon23,c.C4054T,p.R1352C,SNP,SNVindel,exonic,MYO9B,NA,nonsynonymous SNV,"MYO9B:NM_001130065:exon23:c.C4054T:p.R1352C,MYO9B:NM_004145:exon23:c.C4054T:p.R1352C",D,N,N,D,N,T
chr19,39868216,39868216,C,T,P243757_F,SAMD4B,Missense_Mutation,NM_001303614,exon7,c.C1196T,p.A399V,SNP,SNVindel,exonic,SAMD4B,NA,nonsynonymous SNV,"SAMD4B:NM_001303614:exon7:c.C1196T:p.A399V,SAMD4B:NM_018028:exon10:c.C1196T:p.A399V",T,D,D,.,N,T
chr19,44159708,44159708,G,A,P243757_F,PLAUR,Missense_Mutation,NM_001005376,exon5,c.C490T,p.R164C,SNP,SNVindel,exonic,PLAUR,NA,nonsynonymous SNV,"PLAUR:NM_001005376:exon5:c.C490T:p.R164C,PLAUR:NM_001301037:exon5:c.C490T:p.R164C,PLAUR:NM_002659:exon5:c.C490T:p.R164C",D,N,N,T,D,T
chr20,21687685,21687685,G,T,P243757_F,PAX1,Missense_Mutation,NM_001257096,exon2,c.G896T,p.R299L,SNP,SNVindel,exonic,PAX1,NA,nonsynonymous SNV,"PAX1:NM_001257096:exon2:c.G896T:p.R299L,PAX1:NM_006192:exon2:c.G896T:p.R299L",D,D,D,D,D,D
chr21,30432950,30432950,T,G,P243757_F,CCT8,Missense_Mutation,NM_001282909,exon13,c.A1262C,p.E421A,SNP,SNVindel,exonic,CCT8,NA,nonsynonymous SNV,"CCT8:NM_001282909:exon13:c.A1262C:p.E421A,CCT8:NM_001282908:exon14:c.A1328C:p.E443A,CCT8:NM_006585:exon14:c.A1481C:p.E494A,CCT8:NM_001282907:exon15:c.A1424C:p.E475A",T,D,D,T,D,T
chr21,31864225,31864225,G,A,P243757_F,KRTAP19-3,Silent,NM_181609,exon1,c.C51T,p.G17G,SNP,SNVindel,exonic,KRTAP19-3,NA,synonymous SNV,KRTAP19-3:NM_181609:exon1:c.C51T:p.G17G,NA,NA,NA,NA,NA,NA
chr22,25010805,25010805,G,A,P243757_F,GGT1,Missense_Mutation,NM_001288833,exon6,c.G227A,p.G76E,SNP,SNVindel,exonic,GGT1,NA,nonsynonymous SNV,"GGT1:NM_001288833:exon6:c.G227A:p.G76E,GGT1:NM_013430:exon6:c.G227A:p.G76E,GGT1:NM_013421:exon7:c.G227A:p.G76E",T,D,D,T,D,T
chrX,26235454,26235454,C,T,P243757_F,MAGEB5,Silent,NM_001271752,exon2,c.C36T,p.D12D,SNP,SNVindel,exonic,MAGEB5,NA,synonymous SNV,MAGEB5:NM_001271752:exon2:c.C36T:p.D12D,NA,NA,NA,NA,NA,NA
chrX,69650930,69650930,C,G,P243757_F,GDPD2,Missense_Mutation,NM_001171192,exon13,c.C1414G,p.P472A,SNP,SNVindel,exonic,GDPD2,NA,nonsynonymous SNV,GDPD2:NM_001171192:exon13:c.C1414G:p.P472A,T,.,N,T,N,T
chr1,16902844,16902844,G,T,P243757_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,16902931,16902931,C,G,P243757_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,24409143,24409143,C,T,P243757_S,MYOM3,Missense_Mutation,NM_152372,exon17,c.G2032A,p.E678K,SNP,SNVindel,exonic,MYOM3,NA,nonsynonymous SNV,MYOM3:NM_152372:exon17:c.G2032A:p.E678K,T,D,D,T,N,T
chr1,33235505,33235505,C,T,P243757_S,KIAA1522,Missense_Mutation,NM_001198972,exon6,c.C548T,p.P183L,SNP,SNVindel,exonic,KIAA1522,NA,nonsynonymous SNV,"KIAA1522:NM_001198972:exon6:c.C548T:p.P183L,KIAA1522:NM_001369553:exon6:c.C581T:p.P194L,KIAA1522:NM_020888:exon6:c.C725T:p.P242L",D,N,N,T,D,T
chr1,109823815,109823815,G,A,P243757_S,PSRC1,Missense_Mutation,NM_001350237,exon4,c.C578T,p.T193I,SNP,SNVindel,exonic,PSRC1,NA,nonsynonymous SNV,"PSRC1:NM_001350237:exon4:c.C578T:p.T193I,PSRC1:NM_001005290:exon5:c.C578T:p.T193I,PSRC1:NM_001032291:exon5:c.C578T:p.T193I,PSRC1:NM_001350238:exon5:c.C578T:p.T193I,PSRC1:NM_001350239:exon5:c.C578T:p.T193I,PSRC1:NM_001350240:exon5:c.C578T:p.T193I,PSRC1:NM_001350241:exon5:c.C578T:p.T193I,PSRC1:NM_001350242:exon5:c.C578T:p.T193I,PSRC1:NM_001363309:exon5:c.C578T:p.T193I,PSRC1:NM_032636:exon5:c.C578T:p.T193I",T,N,N,T,D,T
chr1,152279743,152279743,C,T,P243757_S,FLG,Missense_Mutation,NM_002016,exon3,c.G7619A,p.R2540Q,SNP,SNVindel,exonic,FLG,NA,nonsynonymous SNV,FLG:NM_002016:exon3:c.G7619A:p.R2540Q,T,.,N,T,N,T
chr1,153662335,153662335,C,T,P243757_S,NPR1,Silent,NM_000906,exon19,c.C2811T,p.N937N,SNP,SNVindel,exonic,NPR1,NA,synonymous SNV,NPR1:NM_000906:exon19:c.C2811T:p.N937N,NA,NA,NA,NA,NA,NA
chr1,160192443,160192443,C,T,P243757_S,DCAF8,Missense_Mutation,NM_015726,exon11,c.G1438A,p.V480M,SNP,SNVindel,exonic,DCAF8,NA,nonsynonymous SNV,DCAF8:NM_015726:exon11:c.G1438A:p.V480M,D,U,D,T,N,T
chr1,223983773,223983773,C,T,P243757_S,TP53BP2,Missense_Mutation,NM_001031685,exon13,c.G2468A,p.S823N,SNP,SNVindel,exonic,TP53BP2,NA,nonsynonymous SNV,"TP53BP2:NM_001031685:exon13:c.G2468A:p.S823N,TP53BP2:NM_005426:exon14:c.G2081A:p.S694N",T,N,N,T,N,T
chr1,233372616,233372616,C,T,P243757_S,PCNX2,Missense_Mutation,NM_014801,exon9,c.G2333A,p.R778H,SNP,SNVindel,exonic,PCNX2,NA,nonsynonymous SNV,PCNX2:NM_014801:exon9:c.G2333A:p.R778H,D,.,D,T,N,T
chr1,241031901,241031901,C,T,P243757_S,RGS7,Missense_Mutation,NM_001282773,exon7,c.G436A,p.V146M,SNP,SNVindel,exonic,RGS7,NA,nonsynonymous SNV,"RGS7:NM_001282773:exon7:c.G436A:p.V146M,RGS7:NM_001282775:exon9:c.G595A:p.V199M,RGS7:NM_001282778:exon9:c.G595A:p.V199M,RGS7:NM_001350116:exon9:c.G517A:p.V173M,RGS7:NM_001364886:exon9:c.G595A:p.V199M,RGS7:NM_002924:exon9:c.G595A:p.V199M,RGS7:NM_001350113:exon10:c.G517A:p.V173M,RGS7:NM_001350114:exon10:c.G517A:p.V173M,RGS7:NM_001350115:exon10:c.G517A:p.V173M",D,D,D,T,D,T
chr2,25467448,25467448,C,A,P243757_S,DNMT3A,Missense_Mutation,NM_001320893,exon9,c.G1172T,p.G391V,SNP,SNVindel,exonic,DNMT3A,NA,nonsynonymous SNV,"DNMT3A:NM_001320893:exon9:c.G1172T:p.G391V,DNMT3A:NM_153759:exon10:c.G1061T:p.G354V,DNMT3A:NM_022552:exon14:c.G1628T:p.G543V,DNMT3A:NM_175629:exon14:c.G1628T:p.G543V",D,D,D,T,D,D
chr2,37443485,37443485,C,T,P243757_S,CEBPZ,Missense_Mutation,NM_005760,exon7,c.G2285A,p.R762Q,SNP,SNVindel,exonic,CEBPZ,NA,nonsynonymous SNV,CEBPZ:NM_005760:exon7:c.G2285A:p.R762Q,D,D,D,T,D,T
chr2,112615933,112615933,T,C,P243757_S,ANAPC1,Silent,NM_022662,exon11,c.A1308G,p.L436L,SNP,SNVindel,exonic,ANAPC1,NA,synonymous SNV,ANAPC1:NM_022662:exon11:c.A1308G:p.L436L,NA,NA,NA,NA,NA,NA
chr2,204281787,204281787,G,A,P243757_S,ABI2,Missense_Mutation,NM_001282927,exon8,c.G1013A,p.R338H,SNP,SNVindel,exonic,ABI2,NA,nonsynonymous SNV,"ABI2:NM_001282927:exon8:c.G1013A:p.R338H,ABI2:NM_001282926:exon9:c.G1331A:p.R444H,ABI2:NM_001282932:exon9:c.G980A:p.R327H,ABI2:NM_005759:exon9:c.G1235A:p.R412H,ABI2:NM_001282925:exon10:c.G1349A:p.R450H",D,D,N,T,D,T
chr3,4699915,4699915,C,T,P243757_S,ITPR1,Silent,NM_001168272,exon12,c.C1059T,p.F353F,SNP,SNVindel,exonic,ITPR1,NA,synonymous SNV,"ITPR1:NM_001168272:exon12:c.C1059T:p.F353F,ITPR1:NM_002222:exon12:c.C1059T:p.F353F,ITPR1:NM_001099952:exon13:c.C1104T:p.F368F",NA,NA,NA,NA,NA,NA
chr3,15094075,15094075,C,T,P243757_S,MRPS25,Missense_Mutation,NM_022497,exon4,c.G395A,p.R132Q,SNP,SNVindel,exonic,MRPS25,NA,nonsynonymous SNV,MRPS25:NM_022497:exon4:c.G395A:p.R132Q,T,N,D,.,N,T
chr3,47449436,47449436,A,T,P243757_S,PTPN23,Missense_Mutation,NM_001304482,exon13,c.A797T,p.E266V,SNP,SNVindel,exonic,PTPN23,NA,nonsynonymous SNV,"PTPN23:NM_001304482:exon13:c.A797T:p.E266V,PTPN23:NM_015466:exon14:c.A1175T:p.E392V",T,D,D,T,D,T
chr3,62189162,62189162,G,A,P243757_S,PTPRG,Missense_Mutation,NM_002841,exon12,c.G1693A,p.D565N,SNP,SNVindel,exonic,PTPRG,NA,nonsynonymous SNV,PTPRG:NM_002841:exon12:c.G1693A:p.D565N,D,N,D,T,N,T
chr3,127292478,127292478,C,T,P243757_S,TPRA1,Missense_Mutation,NM_001142646,exon9,c.G844A,p.A282T,SNP,SNVindel,exonic,TPRA1,NA,nonsynonymous SNV,"TPRA1:NM_001142646:exon9:c.G844A:p.A282T,TPRA1:NM_001353006:exon11:c.G1018A:p.A340T",D,.,D,.,N,T
chr4,3449717,3449717,G,A,P243757_S,HGFAC,Missense_Mutation,NM_001528,exon12,c.G1591A,p.A531T,SNP,SNVindel,exonic,HGFAC,NA,nonsynonymous SNV,"HGFAC:NM_001528:exon12:c.G1591A:p.A531T,HGFAC:NM_001297439:exon13:c.G1612A:p.A538T",T,N,N,D,N,T
chr4,79403050,79403050,G,A,P243757_S,FRAS1,Missense_Mutation,NM_025074,exon57,c.G8536A,p.A2846T,SNP,SNVindel,exonic,FRAS1,NA,nonsynonymous SNV,FRAS1:NM_025074:exon57:c.G8536A:p.A2846T,.,D,D,.,.,D
chr4,140811099,140811099,C,T,P243757_S,MAML3,Silent,NM_018717,exon2,c.G1491A,p.Q497Q,SNP,SNVindel,exonic,MAML3,NA,synonymous SNV,MAML3:NM_018717:exon2:c.G1491A:p.Q497Q,NA,NA,NA,NA,NA,NA
chr4,175898076,175898076,G,A,P243757_S,ADAM29,Nonsense_Mutation,NM_001278127,exon2,c.G1400A,p.W467X,SNP,SNVindel,exonic,ADAM29,NA,stopgain,"ADAM29:NM_001278127:exon2:c.G1400A:p.W467X,ADAM29:NM_001130705:exon3:c.G1400A:p.W467X,ADAM29:NM_001130703:exon4:c.G1400A:p.W467X,ADAM29:NM_001130704:exon4:c.G1400A:p.W467X,ADAM29:NM_014269:exon5:c.G1400A:p.W467X,ADAM29:NM_001278125:exon6:c.G1400A:p.W467X,ADAM29:NM_001278126:exon6:c.G1400A:p.W467X",.,U,D,.,.,.
chr5,96315595,96315595,C,T,P243757_S,LNPEP,Missense_Mutation,NM_005575,exon2,c.C773T,p.T258M,SNP,SNVindel,exonic,LNPEP,NA,nonsynonymous SNV,"LNPEP:NM_005575:exon2:c.C773T:p.T258M,LNPEP:NM_175920:exon2:c.C731T:p.T244M",T,N,N,T,N,T
chr5,112043454,112043454,C,T,P243757_S,APC,Missense_Mutation,NM_001127511,exon1,c.C40T,p.P14S,SNP,SNVindel,exonic,APC,NA,nonsynonymous SNV,"APC:NM_001127511:exon1:c.C40T:p.P14S,APC:NM_001354897:exon1:c.C40T:p.P14S,APC:NM_001354902:exon1:c.C40T:p.P14S",D,.,D,D,N,D
chr5,115628182,115628182,C,T,P243757_S,COMMD10,Missense_Mutation,NM_001308080,exon7,c.C563T,p.T188I,SNP,SNVindel,exonic,COMMD10,NA,nonsynonymous SNV,"COMMD10:NM_001308080:exon7:c.C563T:p.T188I,COMMD10:NM_016144:exon7:c.C605T:p.T202I",D,N,N,T,N,T
chr5,139936789,139936789,G,A,P243757_S,SRA1,Missense_Mutation,NM_001035235,exon2,c.C130T,p.P44S,SNP,SNVindel,exonic,SRA1,NA,nonsynonymous SNV,SRA1:NM_001035235:exon2:c.C130T:p.P44S,T,U,N,T,D,T
chr5,140502997,140502997,A,C,P243757_S,PCDHB4,Missense_Mutation,NM_018938,exon1,c.A1417C,p.S473R,SNP,SNVindel,exonic,PCDHB4,NA,nonsynonymous SNV,PCDHB4:NM_018938:exon1:c.A1417C:p.S473R,T,.,N,T,D,T
chr5,140503002,140503002,C,A,P243757_S,PCDHB4,Silent,NM_018938,exon1,c.C1422A,p.A474A,SNP,SNVindel,exonic,PCDHB4,NA,synonymous SNV,PCDHB4:NM_018938:exon1:c.C1422A:p.A474A,NA,NA,NA,NA,NA,NA
chr6,16327037,16327037,G,A,P243757_S,ATXN1,Missense_Mutation,NM_001128164,exon7,c.C1505T,p.S502L,SNP,SNVindel,exonic,ATXN1,NA,nonsynonymous SNV,"ATXN1:NM_001128164:exon7:c.C1505T:p.S502L,ATXN1:NM_000332:exon8:c.C1505T:p.S502L",D,N,N,T,N,T
chr6,35443217,35443217,G,A,P243757_S,TEAD3,Missense_Mutation,NM_003214,exon12,c.C1090T,p.R364C,SNP,SNVindel,exonic,TEAD3,NA,nonsynonymous SNV,TEAD3:NM_003214:exon12:c.C1090T:p.R364C,D,D,D,T,D,T
chr6,151670442,151670442,G,A,P243757_S,AKAP12,Missense_Mutation,NM_001370346,exon2,c.G601A,p.G201S,SNP,SNVindel,exonic,AKAP12,NA,nonsynonymous SNV,"AKAP12:NM_001370346:exon2:c.G601A:p.G201S,AKAP12:NM_144497:exon2:c.G622A:p.G208S,AKAP12:NM_005100:exon4:c.G916A:p.G306S",D,N,D,T,D,T
chr7,142459835,142459835,G,A,P243757_S,PRSS1,Silent,NM_002769,exon3,c.G411A,p.T137T,SNP,SNVindel,exonic,PRSS1,NA,synonymous SNV,PRSS1:NM_002769:exon3:c.G411A:p.T137T,NA,NA,NA,NA,NA,NA
chr7,156798487,156798487,C,T,P243757_S,MNX1,Silent,NM_001165255,exon3,c.G297A,p.E99E,SNP,SNVindel,exonic,MNX1,NA,synonymous SNV,"MNX1:NM_001165255:exon3:c.G297A:p.E99E,MNX1:NM_005515:exon3:c.G933A:p.E311E",NA,NA,NA,NA,NA,NA
chr8,10583996,10583996,C,T,P243757_S,SOX7,Missense_Mutation,NM_031439,exon2,c.G419A,p.R140Q,SNP,SNVindel,exonic,SOX7,NA,nonsynonymous SNV,SOX7:NM_031439:exon2:c.G419A:p.R140Q,T,D,D,D,N,D
chr8,100866426,100866426,G,A,P243757_S,VPS13B,Silent,NM_017890,exon56,c.G10884A,p.A3628A,SNP,SNVindel,exonic,VPS13B,NA,synonymous SNV,"VPS13B:NM_017890:exon56:c.G10884A:p.A3628A,VPS13B:NM_152564:exon56:c.G10809A:p.A3603A",NA,NA,NA,NA,NA,NA
chr8,142228449,142228449,G,A,P243757_S,SLC45A4,Silent,NM_001080431,exon4,c.C1137T,p.Y379Y,SNP,SNVindel,exonic,SLC45A4,NA,synonymous SNV,"SLC45A4:NM_001080431:exon4:c.C1137T:p.Y379Y,SLC45A4:NM_001286646:exon4:c.C1290T:p.Y430Y,SLC45A4:NM_001286648:exon4:c.C1137T:p.Y379Y",NA,NA,NA,NA,NA,NA
chr9,94985651,94985651,T,A,P243757_S,IARS,Missense_Mutation,NM_002161,exon32,c.A3530T,p.Q1177L,SNP,SNVindel,exonic,IARS,NA,nonsynonymous SNV,"IARS:NM_002161:exon32:c.A3530T:p.Q1177L,IARS:NM_013417:exon32:c.A3530T:p.Q1177L",T,D,D,T,N,T
chr9,125273375,125273375,T,A,P243757_S,OR1J2,Missense_Mutation,NM_054107,exon1,c.T295A,p.S99T,SNP,SNVindel,exonic,OR1J2,NA,nonsynonymous SNV,OR1J2:NM_054107:exon1:c.T295A:p.S99T,T,U,N,T,N,T
chr10,134679564,134679564,G,A,P243757_S,CFAP46,Missense_Mutation,NM_001200049,exon35,c.C4855T,p.R1619W,SNP,SNVindel,exonic,CFAP46,NA,nonsynonymous SNV,CFAP46:NM_001200049:exon35:c.C4855T:p.R1619W,D,.,N,T,D,T
chr11,1016105,1016105,G,A,P243757_S,MUC6,Silent,NM_005961,exon31,c.C6696T,p.T2232T,SNP,SNVindel,exonic,MUC6,NA,synonymous SNV,MUC6:NM_005961:exon31:c.C6696T:p.T2232T,NA,NA,NA,NA,NA,NA
chr11,1265872,1265872,G,A,P243757_S,MUC5B,Missense_Mutation,NM_002458,exon31,c.G7762A,p.G2588R,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.G7762A:p.G2588R,D,.,N,T,N,T
chr11,6432134,6432134,C,T,P243757_S,APBB1,Silent,NM_001164,exon2,c.G444A,p.E148E,SNP,SNVindel,exonic,APBB1,NA,synonymous SNV,"APBB1:NM_001164:exon2:c.G444A:p.E148E,APBB1:NM_145689:exon2:c.G444A:p.E148E",NA,NA,NA,NA,NA,NA
chr11,8161596,8161596,C,T,P243757_S,RIC3,Missense_Mutation,NM_001206671,exon2,c.G269A,p.G90D,SNP,SNVindel,exonic,RIC3,NA,nonsynonymous SNV,"RIC3:NM_001206671:exon2:c.G269A:p.G90D,RIC3:NM_001206672:exon2:c.G269A:p.G90D,RIC3:NM_001346691:exon2:c.G269A:p.G90D,RIC3:NM_024557:exon2:c.G269A:p.G90D,RIC3:NM_001346692:exon3:c.G122A:p.G41D,RIC3:NM_001346693:exon3:c.G122A:p.G41D,RIC3:NM_001346694:exon3:c.G122A:p.G41D",D,D,D,T,D,T
chr11,46903263,46903263,C,T,P243757_S,LRP4,Missense_Mutation,NM_002334,exon20,c.G2804A,p.S935N,SNP,SNVindel,exonic,LRP4,NA,nonsynonymous SNV,LRP4:NM_002334:exon20:c.G2804A:p.S935N,D,D,D,D,N,T
chr11,59573896,59573896,C,T,P243757_S,MRPL16,Missense_Mutation,NM_017840,exon4,c.G680A,p.R227Q,SNP,SNVindel,exonic,MRPL16,NA,nonsynonymous SNV,MRPL16:NM_017840:exon4:c.G680A:p.R227Q,T,D,D,T,N,T
chr11,62361468,62361468,G,A,P243757_S,MTA2,Missense_Mutation,NM_001330292,exon18,c.C1367T,p.A456V,SNP,SNVindel,exonic,MTA2,NA,nonsynonymous SNV,"MTA2:NM_001330292:exon18:c.C1367T:p.A456V,MTA2:NM_004739:exon18:c.C1886T:p.A629V",D,N,D,T,D,T
chr11,65352444,65352444,C,T,P243757_S,EHBP1L1,Silent,NM_001351087,exon11,c.C1041T,p.F347F,SNP,SNVindel,exonic,EHBP1L1,NA,synonymous SNV,"EHBP1L1:NM_001351087:exon11:c.C1041T:p.F347F,EHBP1L1:NM_001099409:exon12:c.C3315T:p.F1105F",NA,NA,NA,NA,NA,NA
chr11,70194495,70194495,G,A,P243757_S,PPFIA1,Missense_Mutation,NM_003626,exon16,c.G2132A,p.R711Q,SNP,SNVindel,exonic,PPFIA1,NA,nonsynonymous SNV,"PPFIA1:NM_003626:exon16:c.G2132A:p.R711Q,PPFIA1:NM_177423:exon16:c.G2132A:p.R711Q",T,D,D,T,N,T
chr11,72468865,72468865,C,T,P243757_S,STARD10,Missense_Mutation,NM_006645,exon5,c.G524A,p.S175N,SNP,SNVindel,exonic,STARD10,NA,nonsynonymous SNV,STARD10:NM_006645:exon5:c.G524A:p.S175N,T,U,D,T,N,T
chr11,78600879,78600879,G,A,P243757_S,TENM4,Silent,NM_001098816,exon9,c.C1035T,p.S345S,SNP,SNVindel,exonic,TENM4,NA,synonymous SNV,TENM4:NM_001098816:exon9:c.C1035T:p.S345S,NA,NA,NA,NA,NA,NA
chr11,118965902,118965902,C,T,P243757_S,H2AFX,Missense_Mutation,NM_002105,exon1,c.G203A,p.G68D,SNP,SNVindel,exonic,H2AFX,NA,nonsynonymous SNV,H2AFX:NM_002105:exon1:c.G203A:p.G68D,D,D,D,D,D,D
chr12,2794921,2794921,G,A,P243757_S,CACNA1C,Missense_Mutation,NM_001129837,exon43,c.G5617A,p.E1873K,SNP,SNVindel,exonic,CACNA1C,NA,nonsynonymous SNV,"CACNA1C:NM_001129837:exon43:c.G5617A:p.E1873K,CACNA1C:NM_001129838:exon43:c.G5617A:p.E1873K,CACNA1C:NM_001129839:exon43:c.G5611A:p.E1871K,CACNA1C:NM_001129846:exon43:c.G5560A:p.E1854K,CACNA1C:NM_000719:exon44:c.G5593A:p.E1865K,CACNA1C:NM_001129829:exon44:c.G5716A:p.E1906K,CACNA1C:NM_001129833:exon44:c.G5650A:p.E1884K,CACNA1C:NM_001129834:exon44:c.G5650A:p.E1884K,CACNA1C:NM_001129835:exon44:c.G5650A:p.E1884K,CACNA1C:NM_001129836:exon44:c.G5644A:p.E1882K,CACNA1C:NM_001129840:exon44:c.G5593A:p.E1865K,CACNA1C:NM_001129841:exon44:c.G5593A:p.E1865K,CACNA1C:NM_001129842:exon44:c.G5593A:p.E1865K,CACNA1C:NM_001129843:exon44:c.G5593A:p.E1865K,CACNA1C:NM_001129844:exon44:c.G5584A:p.E1862K,CACNA1C:NM_001167623:exon44:c.G5593A:p.E1865K,CACNA1C:NM_001167625:exon44:c.G5773A:p.E1925K,CACNA1C:NM_001129830:exon45:c.G5698A:p.E1900K,CACNA1C:NM_001129831:exon45:c.G5677A:p.E1893K,CACNA1C:NM_001129832:exon45:c.G5653A:p.E1885K,CACNA1C:NM_001167624:exon45:c.G5698A:p.E1900K,CACNA1C:NM_001129827:exon46:c.G5737A:p.E1913K,CACNA1C:NM_199460:exon47:c.G5842A:p.E1948K",T,N,D,T,N,T
chr12,2794937,2794937,C,T,P243757_S,CACNA1C,Missense_Mutation,NM_001129837,exon43,c.C5633T,p.T1878M,SNP,SNVindel,exonic,CACNA1C,NA,nonsynonymous SNV,"CACNA1C:NM_001129837:exon43:c.C5633T:p.T1878M,CACNA1C:NM_001129838:exon43:c.C5633T:p.T1878M,CACNA1C:NM_001129839:exon43:c.C5627T:p.T1876M,CACNA1C:NM_001129846:exon43:c.C5576T:p.T1859M,CACNA1C:NM_000719:exon44:c.C5609T:p.T1870M,CACNA1C:NM_001129829:exon44:c.C5732T:p.T1911M,CACNA1C:NM_001129833:exon44:c.C5666T:p.T1889M,CACNA1C:NM_001129834:exon44:c.C5666T:p.T1889M,CACNA1C:NM_001129835:exon44:c.C5666T:p.T1889M,CACNA1C:NM_001129836:exon44:c.C5660T:p.T1887M,CACNA1C:NM_001129840:exon44:c.C5609T:p.T1870M,CACNA1C:NM_001129841:exon44:c.C5609T:p.T1870M,CACNA1C:NM_001129842:exon44:c.C5609T:p.T1870M,CACNA1C:NM_001129843:exon44:c.C5609T:p.T1870M,CACNA1C:NM_001129844:exon44:c.C5600T:p.T1867M,CACNA1C:NM_001167623:exon44:c.C5609T:p.T1870M,CACNA1C:NM_001167625:exon44:c.C5789T:p.T1930M,CACNA1C:NM_001129830:exon45:c.C5714T:p.T1905M,CACNA1C:NM_001129831:exon45:c.C5693T:p.T1898M,CACNA1C:NM_001129832:exon45:c.C5669T:p.T1890M,CACNA1C:NM_001167624:exon45:c.C5714T:p.T1905M,CACNA1C:NM_001129827:exon46:c.C5753T:p.T1918M,CACNA1C:NM_199460:exon47:c.C5858T:p.T1953M",T,N,D,T,N,T
chr12,113319618,113319618,C,T,P243757_S,RPH3A,Silent,NM_001347955,exon14,c.C1092T,p.Y364Y,SNP,SNVindel,exonic,RPH3A,NA,synonymous SNV,"RPH3A:NM_001347955:exon14:c.C1092T:p.Y364Y,RPH3A:NM_014954:exon14:c.C1281T:p.Y427Y,RPH3A:NM_001143854:exon15:c.C1293T:p.Y431Y,RPH3A:NM_001347952:exon15:c.C1293T:p.Y431Y,RPH3A:NM_001347953:exon15:c.C1293T:p.Y431Y,RPH3A:NM_001347954:exon15:c.C1293T:p.Y431Y",NA,NA,NA,NA,NA,NA
chr12,124826371,124826371,C,T,P243757_S,NCOR2,Missense_Mutation,NM_001077261,exon35,c.G5156A,p.R1719Q,SNP,SNVindel,exonic,NCOR2,NA,nonsynonymous SNV,"NCOR2:NM_001077261:exon35:c.G5156A:p.R1719Q,NCOR2:NM_001206654:exon35:c.G5156A:p.R1719Q,NCOR2:NM_006312:exon36:c.G5186A:p.R1729Q",D,D,D,T,D,T
chr14,50319441,50319441,G,A,P243757_S,NEMF,Missense_Mutation,NM_001301732,exon1,c.C31T,p.R11C,SNP,SNVindel,exonic,NEMF,NA,nonsynonymous SNV,"NEMF:NM_001301732:exon1:c.C31T:p.R11C,NEMF:NM_004713:exon1:c.C31T:p.R11C",T,N,D,T,N,T
chr14,52781333,52781333,G,A,P243757_S,PTGER2,Missense_Mutation,NM_000956,exon1,c.G67A,p.E23K,SNP,SNVindel,exonic,PTGER2,NA,nonsynonymous SNV,PTGER2:NM_000956:exon1:c.G67A:p.E23K,T,N,D,D,N,T
chr14,75928218,75928218,G,A,P243757_S,JDP2,Silent,NM_001135047,exon3,c.G291A,p.T97T,SNP,SNVindel,exonic,JDP2,NA,synonymous SNV,"JDP2:NM_001135047:exon3:c.G291A:p.T97T,JDP2:NM_001135048:exon3:c.G291A:p.T97T,JDP2:NM_001135049:exon3:c.G324A:p.T108T,JDP2:NM_130469:exon3:c.G291A:p.T97T",NA,NA,NA,NA,NA,NA
chr14,105419446,105419446,T,G,P243757_S,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.A2042C,p.K681T,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.A2042C:p.K681T,AHNAK2:NM_138420:exon7:c.A2342C:p.K781T",T,.,N,T,D,T
chr14,105995691,105995691,G,A,P243757_S,TMEM121,Missense_Mutation,NM_001331238,exon2,c.G520A,p.G174R,SNP,SNVindel,exonic,TMEM121,NA,nonsynonymous SNV,"TMEM121:NM_001331238:exon2:c.G520A:p.G174R,TMEM121:NM_025268:exon2:c.G520A:p.G174R",D,U,D,.,D,T
chr15,27216707,27216707,C,T,P243757_S,GABRG3,Missense_Mutation,NM_001270873,exon1,c.C25T,p.L9F,SNP,SNVindel,exonic,GABRG3,NA,nonsynonymous SNV,"GABRG3:NM_001270873:exon1:c.C25T:p.L9F,GABRG3:NM_033223:exon1:c.C25T:p.L9F",T,U,N,T,N,T
chr16,3647909,3647909,C,T,P243757_S,SLX4,Missense_Mutation,NM_032444,exon6,c.G1255A,p.E419K,SNP,SNVindel,exonic,SLX4,NA,nonsynonymous SNV,SLX4:NM_032444:exon6:c.G1255A:p.E419K,D,N,N,T,D,T
chr16,57601948,57601948,C,T,P243757_S,ADGRG5,Silent,NM_001304376,exon9,c.C1002T,p.I334I,SNP,SNVindel,exonic,ADGRG5,NA,synonymous SNV,"ADGRG5:NM_001304376:exon9:c.C1002T:p.I334I,ADGRG5:NM_001318481:exon9:c.C1002T:p.I334I,ADGRG5:NM_153837:exon9:c.C1002T:p.I334I",NA,NA,NA,NA,NA,NA
chr16,70708259,70708259,C,T,P243757_S,MTSS2,Missense_Mutation,NM_138383,exon11,c.G1003A,p.A335T,SNP,SNVindel,exonic,MTSS2,NA,nonsynonymous SNV,MTSS2:NM_138383:exon11:c.G1003A:p.A335T,T,U,N,T,N,T
chr16,89258063,89258063,C,T,P243757_S,CDH15,Missense_Mutation,NM_004933,exon10,c.C1376T,p.A459V,SNP,SNVindel,exonic,CDH15,NA,nonsynonymous SNV,CDH15:NM_004933:exon10:c.C1376T:p.A459V,D,U,D,T,D,T
chr17,40839050,40839050,C,T,P243757_S,CNTNAP1,Missense_Mutation,NM_003632,exon7,c.C1030T,p.R344W,SNP,SNVindel,exonic,CNTNAP1,NA,nonsynonymous SNV,CNTNAP1:NM_003632:exon7:c.C1030T:p.R344W,D,N,N,T,D,T
chr17,74006207,74006207,C,T,P243757_S,EVPL,Missense_Mutation,NM_001320747,exon22,c.G3145A,p.G1049S,SNP,SNVindel,exonic,EVPL,NA,nonsynonymous SNV,"EVPL:NM_001320747:exon22:c.G3145A:p.G1049S,EVPL:NM_001988:exon22:c.G3079A:p.G1027S",T,N,N,T,N,T
chr18,43678175,43678175,G,A,P243757_S,ATP5F1A,Missense_Mutation,NM_001257334,exon1,c.C23T,p.A8V,SNP,SNVindel,exonic,ATP5F1A,NA,nonsynonymous SNV,"ATP5F1A:NM_001257334:exon1:c.C23T:p.A8V,ATP5F1A:NM_004046:exon1:c.C23T:p.A8V,ATP5F1A:NM_001001937:exon2:c.C23T:p.A8V",D,D,D,T,N,T
chr18,77918467,77918467,G,A,P243757_S,PARD6G,Silent,NM_032510,exon3,c.C318T,p.L106L,SNP,SNVindel,exonic,PARD6G,NA,synonymous SNV,PARD6G:NM_032510:exon3:c.C318T:p.L106L,NA,NA,NA,NA,NA,NA
chr19,1487166,1487166,C,T,P243757_S,PCSK4,Missense_Mutation,NM_017573,exon7,c.G829A,p.E277K,SNP,SNVindel,exonic,PCSK4,NA,nonsynonymous SNV,PCSK4:NM_017573:exon7:c.G829A:p.E277K,T,U,D,D,N,T
chr19,4330048,4330048,G,A,P243757_S,STAP2,Missense_Mutation,NM_001013841,exon5,c.C365T,p.P122L,SNP,SNVindel,exonic,STAP2,NA,nonsynonymous SNV,"STAP2:NM_001013841:exon5:c.C365T:p.P122L,STAP2:NM_017720:exon5:c.C365T:p.P122L",.,D,D,T,.,T
chr19,5785519,5785519,G,A,P243757_S,DUS3L,Silent,NM_001161619,exon11,c.C1029T,p.Y343Y,SNP,SNVindel,exonic,DUS3L,NA,synonymous SNV,"DUS3L:NM_001161619:exon11:c.C1029T:p.Y343Y,DUS3L:NM_020175:exon12:c.C1755T:p.Y585Y",NA,NA,NA,NA,NA,NA
chr19,11313290,11313290,C,T,P243757_S,DOCK6,Silent,NM_020812,exon42,c.G5331A,p.T1777T,SNP,SNVindel,exonic,DOCK6,NA,synonymous SNV,"DOCK6:NM_020812:exon42:c.G5331A:p.T1777T,DOCK6:NM_001367830:exon43:c.G5436A:p.T1812T",NA,NA,NA,NA,NA,NA
chr19,33490500,33490500,C,T,P243757_S,RHPN2,Missense_Mutation,NM_033103,exon10,c.G1217A,p.R406Q,SNP,SNVindel,exonic,RHPN2,NA,nonsynonymous SNV,RHPN2:NM_033103:exon10:c.G1217A:p.R406Q,T,N,N,T,N,T
chr19,42862394,42862394,G,A,P243757_S,MEGF8,Missense_Mutation,NM_001410,exon28,c.G4909A,p.E1637K,SNP,SNVindel,exonic,MEGF8,NA,nonsynonymous SNV,"MEGF8:NM_001410:exon28:c.G4909A:p.E1637K,MEGF8:NM_001271938:exon29:c.G5110A:p.E1704K",T,D,D,T,N,T
chr19,43585334,43585334,T,G,P243757_S,PSG2,Silent,NM_031246,exon2,c.A129C,p.P43P,SNP,SNVindel,exonic,PSG2,NA,synonymous SNV,PSG2:NM_031246:exon2:c.A129C:p.P43P,NA,NA,NA,NA,NA,NA
chr19,45411859,45411859,G,A,P243757_S,APOE,Silent,NM_000041,exon4,c.G306A,p.P102P,SNP,SNVindel,exonic,APOE,NA,synonymous SNV,"APOE:NM_000041:exon4:c.G306A:p.P102P,APOE:NM_001302688:exon4:c.G384A:p.P128P,APOE:NM_001302689:exon4:c.G306A:p.P102P,APOE:NM_001302690:exon4:c.G306A:p.P102P,APOE:NM_001302691:exon4:c.G306A:p.P102P",NA,NA,NA,NA,NA,NA
chr19,46915551,46915551,C,T,P243757_S,CCDC8,Missense_Mutation,NM_032040,exon1,c.G517A,p.V173I,SNP,SNVindel,exonic,CCDC8,NA,nonsynonymous SNV,CCDC8:NM_032040:exon1:c.G517A:p.V173I,D,N,N,T,N,T
chr19,48698426,48698426,G,A,P243757_S,ZSWIM9,Missense_Mutation,NM_199341,exon4,c.G1105A,p.G369S,SNP,SNVindel,exonic,ZSWIM9,NA,nonsynonymous SNV,ZSWIM9:NM_199341:exon4:c.G1105A:p.G369S,T,N,N,T,N,T
chr19,54684659,54684659,C,A,P243757_S,MBOAT7,Missense_Mutation,NM_001146056,exon4,c.G466T,p.A156S,SNP,SNVindel,exonic,MBOAT7,NA,nonsynonymous SNV,"MBOAT7:NM_001146056:exon4:c.G466T:p.A156S,MBOAT7:NM_001146083:exon5:c.G466T:p.A156S,MBOAT7:NM_001146082:exon6:c.G685T:p.A229S,MBOAT7:NM_024298:exon6:c.G685T:p.A229S",T,N,N,T,N,T
chr19,55106288,55106288,A,C,P243757_S,LILRA1,Missense_Mutation,NM_001278319,exon3,c.A229C,p.I77L,SNP,SNVindel,exonic,LILRA1,NA,nonsynonymous SNV,"LILRA1:NM_001278319:exon3:c.A229C:p.I77L,LILRA1:NM_001278318:exon4:c.A229C:p.I77L,LILRA1:NM_006863:exon4:c.A229C:p.I77L",T,N,N,T,N,T
chr20,3674187,3674187,C,T,P243757_S,SIGLEC1,Missense_Mutation,NM_001367089,exon13,c.G3415A,p.V1139I,SNP,SNVindel,exonic,SIGLEC1,NA,nonsynonymous SNV,"SIGLEC1:NM_001367089:exon13:c.G3415A:p.V1139I,SIGLEC1:NM_023068:exon14:c.G3415A:p.V1139I",D,N,N,T,N,T
chr20,62309673,62309673,C,T,P243757_S,RTEL1,Silent,NM_001283010,exon11,c.C342T,p.D114D,SNP,SNVindel,exonic,RTEL1,NA,synonymous SNV,"RTEL1:NM_001283010:exon11:c.C342T:p.D114D,RTEL1:NM_001283009:exon12:c.C1011T:p.D337D,RTEL1:NM_016434:exon12:c.C1011T:p.D337D,RTEL1:NM_032957:exon12:c.C1083T:p.D361D",NA,NA,NA,NA,NA,NA
chr20,62421523,62421523,G,A,P243757_S,ZBTB46,Silent,NM_001369741,exon2,c.C588T,p.Y196Y,SNP,SNVindel,exonic,ZBTB46,NA,synonymous SNV,"ZBTB46:NM_001369741:exon2:c.C588T:p.Y196Y,ZBTB46:NM_025224:exon2:c.C588T:p.Y196Y",NA,NA,NA,NA,NA,NA
chr22,24487726,24487726,G,A,P243757_S,CABIN1,Missense_Mutation,NM_001201429,exon23,c.G3565A,p.E1189K,SNP,SNVindel,exonic,CABIN1,NA,nonsynonymous SNV,"CABIN1:NM_001201429:exon23:c.G3565A:p.E1189K,CABIN1:NM_001199281:exon24:c.G3715A:p.E1239K,CABIN1:NM_012295:exon24:c.G3715A:p.E1239K",T,D,D,T,N,T
chr22,39441128,39441128,C,T,P243757_S,APOBEC3F,Silent,NM_145298,exon3,c.C354T,p.S118S,SNP,SNVindel,exonic,APOBEC3F,NA,synonymous SNV,APOBEC3F:NM_145298:exon3:c.C354T:p.S118S,NA,NA,NA,NA,NA,NA
chrX,26235454,26235454,C,T,P243757_S,MAGEB5,Silent,NM_001271752,exon2,c.C36T,p.D12D,SNP,SNVindel,exonic,MAGEB5,NA,synonymous SNV,MAGEB5:NM_001271752:exon2:c.C36T:p.D12D,NA,NA,NA,NA,NA,NA
chrX,51150638,51150638,G,A,P243757_S,EZHIP,Missense_Mutation,NM_203407,exon1,c.G770A,p.R257H,SNP,SNVindel,exonic,EZHIP,NA,nonsynonymous SNV,EZHIP:NM_203407:exon1:c.G770A:p.R257H,T,N,N,T,N,T
chr1,6662330,6662330,C,T,P243757_T,KLHL21,Missense_Mutation,NM_001324309,exon1,c.G548A,p.R183H,SNP,SNVindel,exonic,KLHL21,NA,nonsynonymous SNV,"KLHL21:NM_001324309:exon1:c.G548A:p.R183H,KLHL21:NM_014851:exon1:c.G548A:p.R183H",T,N,D,T,N,T
chr1,11983206,11983206,A,G,P243757_T,KIAA2013,Silent,NM_138346,exon2,c.T1374C,p.F458F,SNP,SNVindel,exonic,KIAA2013,NA,synonymous SNV,KIAA2013:NM_138346:exon2:c.T1374C:p.F458F,NA,NA,NA,NA,NA,NA
chr1,16271252,16271252,C,T,P243757_T,ZBTB17,Missense_Mutation,NM_001242884,exon7,c.G764A,p.R255Q,SNP,SNVindel,exonic,ZBTB17,NA,nonsynonymous SNV,"ZBTB17:NM_001242884:exon7:c.G764A:p.R255Q,ZBTB17:NM_001324137:exon7:c.G782A:p.R261Q,ZBTB17:NM_001324138:exon7:c.G821A:p.R274Q,ZBTB17:NM_001287603:exon8:c.G1010A:p.R337Q,ZBTB17:NM_001287604:exon8:c.G782A:p.R261Q,ZBTB17:NM_003443:exon8:c.G1010A:p.R337Q",D,N,D,T,N,T
chr1,16902844,16902844,G,T,P243757_T,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,22915534,22915534,C,T,P243757_T,EPHA8,Missense_Mutation,NM_001006943,exon5,c.C1150T,p.R384C,SNP,SNVindel,exonic,EPHA8,NA,nonsynonymous SNV,"EPHA8:NM_001006943:exon5:c.C1150T:p.R384C,EPHA8:NM_020526:exon5:c.C1150T:p.R384C",D,D,D,D,D,D
chr1,24718075,24718075,T,C,P243757_T,STPG1,Silent,NM_001199012,exon3,c.A165G,p.Q55Q,SNP,SNVindel,exonic,STPG1,NA,synonymous SNV,"STPG1:NM_001199012:exon3:c.A165G:p.Q55Q,STPG1:NM_001199013:exon3:c.A165G:p.Q55Q",NA,NA,NA,NA,NA,NA
chr1,53554640,53554640,C,T,P243757_T,SLC1A7,Missense_Mutation,NM_001287597,exon9,c.G1157A,p.R386H,SNP,SNVindel,exonic,SLC1A7,NA,nonsynonymous SNV,"SLC1A7:NM_001287597:exon9:c.G1157A:p.R386H,SLC1A7:NM_001287595:exon10:c.G1550A:p.R517H,SLC1A7:NM_006671:exon10:c.G1373A:p.R458H",D,D,D,T,D,D
chr1,107599918,107599918,C,T,P243757_T,PRMT6,Missense_Mutation,NM_018137,exon1,c.C581T,p.A194V,SNP,SNVindel,exonic,PRMT6,NA,nonsynonymous SNV,PRMT6:NM_018137:exon1:c.C581T:p.A194V,D,D,P,T,D,T
chr1,114442672,114442672,G,A,P243757_T,AP4B1,Missense_Mutation,NM_001308312,exon2,c.C464T,p.S155L,SNP,SNVindel,exonic,AP4B1,NA,nonsynonymous SNV,"AP4B1:NM_001308312:exon2:c.C464T:p.S155L,AP4B1:NM_001253852:exon5:c.C968T:p.S323L,AP4B1:NM_001253853:exon6:c.C671T:p.S224L,AP4B1:NM_006594:exon6:c.C968T:p.S323L",D,D,D,T,D,T
chr1,117659352,117659352,C,T,P243757_T,TRIM45,Missense_Mutation,NM_001145635,exon3,c.G1184A,p.R395Q,SNP,SNVindel,exonic,TRIM45,NA,nonsynonymous SNV,"TRIM45:NM_001145635:exon3:c.G1184A:p.R395Q,TRIM45:NM_025188:exon3:c.G1238A:p.R413Q",T,N,P,D,N,T
chr1,120437609,120437609,G,A,P243757_T,ADAM30,Missense_Mutation,NM_021794,exon1,c.C1351T,p.R451C,SNP,SNVindel,exonic,ADAM30,NA,nonsynonymous SNV,ADAM30:NM_021794:exon1:c.C1351T:p.R451C,D,N,N,T,D,T
chr1,147119273,147119273,G,A,P243757_T,ACP6,Silent,NM_016361,exon10,c.C1239T,p.H413H,SNP,SNVindel,exonic,ACP6,NA,synonymous SNV,ACP6:NM_016361:exon10:c.C1239T:p.H413H,NA,NA,NA,NA,NA,NA
chr1,152882610,152882610,A,G,P243757_T,IVL,Missense_Mutation,NM_005547,exon2,c.A337G,p.T113A,SNP,SNVindel,exonic,IVL,NA,nonsynonymous SNV,IVL:NM_005547:exon2:c.A337G:p.T113A,T,.,P,T,N,T
chr1,152975829,152975829,A,G,P243757_T,SPRR3,Silent,NM_001097589,exon2,c.A333G,p.E111E,SNP,SNVindel,exonic,SPRR3,NA,synonymous SNV,"SPRR3:NM_001097589:exon2:c.A333G:p.E111E,SPRR3:NM_005416:exon3:c.A333G:p.E111E",NA,NA,NA,NA,NA,NA
chr1,154744807,154744807,C,G,P243757_T,KCNN3,Silent,NM_001204087,exon3,c.G1092C,p.L364L,SNP,SNVindel,exonic,KCNN3,NA,synonymous SNV,"KCNN3:NM_001204087:exon3:c.G1092C:p.L364L,KCNN3:NM_001365837:exon3:c.G153C:p.L51L,KCNN3:NM_001365838:exon3:c.G153C:p.L51L,KCNN3:NM_002249:exon3:c.G1092C:p.L364L,KCNN3:NM_170782:exon3:c.G177C:p.L59L",NA,NA,NA,NA,NA,NA
chr1,160262345,160262345,G,A,P243757_T,COPA,Silent,NM_001098398,exon28,c.C2916T,p.Y972Y,SNP,SNVindel,exonic,COPA,NA,synonymous SNV,"COPA:NM_001098398:exon28:c.C2916T:p.Y972Y,COPA:NM_004371:exon28:c.C2889T:p.Y963Y",NA,NA,NA,NA,NA,NA
chr1,160393905,160393905,A,G,P243757_T,VANGL2,Silent,NM_020335,exon7,c.A1137G,p.K379K,SNP,SNVindel,exonic,VANGL2,NA,synonymous SNV,VANGL2:NM_020335:exon7:c.A1137G:p.K379K,NA,NA,NA,NA,NA,NA
chr1,161748056,161748056,C,T,P243757_T,ATF6,Silent,NM_007348,exon2,c.C105T,p.L35L,SNP,SNVindel,exonic,ATF6,NA,synonymous SNV,ATF6:NM_007348:exon2:c.C105T:p.L35L,NA,NA,NA,NA,NA,NA
chr1,165398115,165398115,T,C,P243757_T,RXRG,Silent,NM_006917,exon2,c.A138G,p.T46T,SNP,SNVindel,exonic,RXRG,NA,synonymous SNV,RXRG:NM_006917:exon2:c.A138G:p.T46T,NA,NA,NA,NA,NA,NA
chr1,175046789,175046789,A,G,P243757_T,TNN,Missense_Mutation,NM_022093,exon2,c.A235G,p.R79G,SNP,SNVindel,exonic,TNN,NA,nonsynonymous SNV,TNN:NM_022093:exon2:c.A235G:p.R79G,T,N,P,T,N,T
chr1,209964080,209964080,C,T,P243757_T,IRF6,Missense_Mutation,NM_001206696,exon5,c.G535A,p.V179I,SNP,SNVindel,exonic,IRF6,NA,nonsynonymous SNV,"IRF6:NM_001206696:exon5:c.G535A:p.V179I,IRF6:NM_006147:exon7:c.G820A:p.V274I",D,D,P,D,N,T
chr1,211844573,211844573,G,A,P243757_T,NEK2,Silent,NM_001204182,exon4,c.C609T,p.G203G,SNP,SNVindel,exonic,NEK2,NA,synonymous SNV,"NEK2:NM_001204182:exon4:c.C609T:p.G203G,NEK2:NM_001204183:exon4:c.C609T:p.G203G,NEK2:NM_002497:exon4:c.C609T:p.G203G",NA,NA,NA,NA,NA,NA
chr1,214564340,214564340,T,C,P243757_T,PTPN14,Silent,NM_005401,exon11,c.A978G,p.R326R,SNP,SNVindel,exonic,PTPN14,NA,synonymous SNV,PTPN14:NM_005401:exon11:c.A978G:p.R326R,NA,NA,NA,NA,NA,NA
chr1,216373186,216373186,G,A,P243757_T,USH2A,Silent,NM_007123,exon17,c.C3594T,p.Y1198Y,SNP,SNVindel,exonic,USH2A,NA,synonymous SNV,"USH2A:NM_007123:exon17:c.C3594T:p.Y1198Y,USH2A:NM_206933:exon17:c.C3594T:p.Y1198Y",NA,NA,NA,NA,NA,NA
chr1,228564884,228564884,G,A,P243757_T,OBSCN,Missense_Mutation,NM_001098623,exon101,c.G23171A,p.R7724H,SNP,SNVindel,exonic,OBSCN,NA,nonsynonymous SNV,"OBSCN:NM_001098623:exon101:c.G23171A:p.R7724H,OBSCN:NM_001271223:exon112:c.G26042A:p.R8681H",T,N,P,T,N,T
chr1,248366702,248366702,G,A,P243757_T,OR2M3,Silent,NM_001004689,exon1,c.G333A,p.E111E,SNP,SNVindel,exonic,OR2M3,NA,synonymous SNV,OR2M3:NM_001004689:exon1:c.G333A:p.E111E,NA,NA,NA,NA,NA,NA
chr2,25050977,25050977,T,C,P243757_T,ADCY3,Silent,NM_001320613,exon14,c.A2226G,p.E742E,SNP,SNVindel,exonic,ADCY3,NA,synonymous SNV,"ADCY3:NM_001320613:exon14:c.A2226G:p.E742E,ADCY3:NM_004036:exon14:c.A2226G:p.E742E",NA,NA,NA,NA,NA,NA
chr2,25467448,25467448,C,A,P243757_T,DNMT3A,Missense_Mutation,NM_001320893,exon9,c.G1172T,p.G391V,SNP,SNVindel,exonic,DNMT3A,NA,nonsynonymous SNV,"DNMT3A:NM_001320893:exon9:c.G1172T:p.G391V,DNMT3A:NM_153759:exon10:c.G1061T:p.G354V,DNMT3A:NM_022552:exon14:c.G1628T:p.G543V,DNMT3A:NM_175629:exon14:c.G1628T:p.G543V",D,D,D,T,D,D
chr2,69204629,69204629,T,C,P243757_T,GKN1,Silent,NM_019617,exon2,c.T57C,p.I19I,SNP,SNVindel,exonic,GKN1,NA,synonymous SNV,GKN1:NM_019617:exon2:c.T57C:p.I19I,NA,NA,NA,NA,NA,NA
chr2,70528827,70528827,G,A,P243757_T,FAM136A,Missense_Mutation,NM_001329752,exon1,c.C317T,p.P106L,SNP,SNVindel,exonic,FAM136A,NA,nonsynonymous SNV,"FAM136A:NM_001329752:exon1:c.C317T:p.P106L,FAM136A:NM_001329753:exon1:c.C317T:p.P106L",T,.,P,.,N,T
chr2,105858818,105858818,C,T,P243757_T,GPR45,Missense_Mutation,NM_007227,exon1,c.C503T,p.T168M,SNP,SNVindel,exonic,GPR45,NA,nonsynonymous SNV,GPR45:NM_007227:exon1:c.C503T:p.T168M,T,N,N,T,N,T
chr2,112615933,112615933,T,C,P243757_T,ANAPC1,Silent,NM_022662,exon11,c.A1308G,p.L436L,SNP,SNVindel,exonic,ANAPC1,NA,synonymous SNV,ANAPC1:NM_022662:exon11:c.A1308G:p.L436L,NA,NA,NA,NA,NA,NA
chr2,227661102,227661102,G,A,P243757_T,IRS1,Missense_Mutation,NM_005544,exon1,c.C2353T,p.R785W,SNP,SNVindel,exonic,IRS1,NA,nonsynonymous SNV,IRS1:NM_005544:exon1:c.C2353T:p.R785W,D,N,N,T,N,T
chr2,233757679,233757679,G,A,P243757_T,NGEF,Silent,NM_001114090,exon5,c.C795T,p.A265A,SNP,SNVindel,exonic,NGEF,NA,synonymous SNV,"NGEF:NM_001114090:exon5:c.C795T:p.A265A,NGEF:NM_019850:exon7:c.C1071T:p.A357A",NA,NA,NA,NA,NA,NA
chr3,10311939,10311939,C,T,P243757_T,TATDN2,Missense_Mutation,NM_014760,exon4,c.C1073T,p.P358L,SNP,SNVindel,exonic,TATDN2,NA,nonsynonymous SNV,TATDN2:NM_014760:exon4:c.C1073T:p.P358L,D,N,P,T,D,T
chr3,39185077,39185077,G,A,P243757_T,CSRNP1,Silent,NM_001320559,exon5,c.C1299T,p.S433S,SNP,SNVindel,exonic,CSRNP1,NA,synonymous SNV,"CSRNP1:NM_001320559:exon5:c.C1299T:p.S433S,CSRNP1:NM_001320560:exon5:c.C1239T:p.S413S,CSRNP1:NM_033027:exon5:c.C1239T:p.S413S",NA,NA,NA,NA,NA,NA
chr3,43074430,43074430,A,G,P243757_T,GASK1A,Silent,NM_001129908,exon2,c.A675G,p.G225G,SNP,SNVindel,exonic,GASK1A,NA,synonymous SNV,GASK1A:NM_001129908:exon2:c.A675G:p.G225G,NA,NA,NA,NA,NA,NA
chr3,49723141,49723141,A,G,P243757_T,MST1,Silent,NM_020998,exon11,c.T1275C,p.H425H,SNP,SNVindel,exonic,MST1,NA,synonymous SNV,MST1:NM_020998:exon11:c.T1275C:p.H425H,NA,NA,NA,NA,NA,NA
chr3,49742461,49742461,C,T,P243757_T,RNF123,Silent,NM_022064,exon23,c.C2004T,p.P668P,SNP,SNVindel,exonic,RNF123,NA,synonymous SNV,RNF123:NM_022064:exon23:c.C2004T:p.P668P,NA,NA,NA,NA,NA,NA
chr3,89528572,89528572,G,A,P243757_T,EPHA3,Missense_Mutation,NM_005233,exon17,c.G2872A,p.V958M,SNP,SNVindel,exonic,EPHA3,NA,nonsynonymous SNV,EPHA3:NM_005233:exon17:c.G2872A:p.V958M,D,D,D,D,N,T
chr3,101284039,101284039,G,A,P243757_T,TRMT10C,Silent,NM_017819,exon2,c.G414A,p.T138T,SNP,SNVindel,exonic,TRMT10C,NA,synonymous SNV,TRMT10C:NM_017819:exon2:c.G414A:p.T138T,NA,NA,NA,NA,NA,NA
chr3,123699299,123699299,G,A,P243757_T,ROPN1,Silent,NM_001317774,exon2,c.C30T,p.I10I,SNP,SNVindel,exonic,ROPN1,NA,synonymous SNV,"ROPN1:NM_001317774:exon2:c.C30T:p.I10I,ROPN1:NM_017578:exon3:c.C30T:p.I10I",NA,NA,NA,NA,NA,NA
chr3,129291751,129291751,T,C,P243757_T,PLXND1,Silent,NM_015103,exon14,c.A2871G,p.P957P,SNP,SNVindel,exonic,PLXND1,NA,synonymous SNV,PLXND1:NM_015103:exon14:c.A2871G:p.P957P,NA,NA,NA,NA,NA,NA
chr4,25363901,25363901,T,A,P243757_T,ZCCHC4,Missense_Mutation,NM_024936,exon10,c.T1187A,p.L396H,SNP,SNVindel,exonic,ZCCHC4,NA,nonsynonymous SNV,ZCCHC4:NM_024936:exon10:c.T1187A:p.L396H,T,N,P,T,N,T
chr4,26585881,26585881,C,T,P243757_T,TBC1D19,Silent,NM_001292054,exon1,c.C66T,p.S22S,SNP,SNVindel,exonic,TBC1D19,NA,synonymous SNV,"TBC1D19:NM_001292054:exon1:c.C66T:p.S22S,TBC1D19:NM_018317:exon1:c.C66T:p.S22S",NA,NA,NA,NA,NA,NA
chr4,47887536,47887536,T,C,P243757_T,NFXL1,Silent,NM_001278623,exon14,c.A1803G,p.A601A,SNP,SNVindel,exonic,NFXL1,NA,synonymous SNV,"NFXL1:NM_001278623:exon14:c.A1803G:p.A601A,NFXL1:NM_001278624:exon14:c.A1803G:p.A601A,NFXL1:NM_152995:exon14:c.A1803G:p.A601A",NA,NA,NA,NA,NA,NA
chr4,70146230,70146230,G,A,P243757_T,UGT2B28,Silent,NM_001207004,exon1,c.G12A,p.K4K,SNP,SNVindel,exonic,UGT2B28,NA,synonymous SNV,"UGT2B28:NM_001207004:exon1:c.G12A:p.K4K,UGT2B28:NM_053039:exon1:c.G12A:p.K4K",NA,NA,NA,NA,NA,NA
chr4,73169666,73169666,C,T,P243757_T,ADAMTS3,Missense_Mutation,NM_014243,exon17,c.G2392A,p.D798N,SNP,SNVindel,exonic,ADAMTS3,NA,nonsynonymous SNV,ADAMTS3:NM_014243:exon17:c.G2392A:p.D798N,T,D,D,T,N,T
chr4,121738049,121738049,T,C,P243757_T,PRDM5,Silent,NM_018699,exon6,c.A681G,p.L227L,SNP,SNVindel,exonic,PRDM5,NA,synonymous SNV,PRDM5:NM_018699:exon6:c.A681G:p.L227L,NA,NA,NA,NA,NA,NA
chr4,129012638,129012638,A,G,P243757_T,LARP1B,Silent,NM_001278604,exon7,c.A639G,p.A213A,SNP,SNVindel,exonic,LARP1B,NA,synonymous SNV,"LARP1B:NM_001278604:exon7:c.A639G:p.A213A,LARP1B:NM_018078:exon7:c.A639G:p.A213A,LARP1B:NM_032239:exon7:c.A639G:p.A213A,LARP1B:NM_178043:exon7:c.A639G:p.A213A",NA,NA,NA,NA,NA,NA
chr4,183664522,183664522,T,C,P243757_T,TENM3,Silent,NM_001080477,exon19,c.T3579C,p.Y1193Y,SNP,SNVindel,exonic,TENM3,NA,synonymous SNV,TENM3:NM_001080477:exon19:c.T3579C:p.Y1193Y,NA,NA,NA,NA,NA,NA
chr5,174106,174106,G,A,P243757_T,PLEKHG4B,Missense_Mutation,NM_052909,exon18,c.G4295A,p.R1432Q,SNP,SNVindel,exonic,PLEKHG4B,NA,nonsynonymous SNV,PLEKHG4B:NM_052909:exon18:c.G4295A:p.R1432Q,D,.,P,T,N,T
chr5,1074740,1074740,C,T,P243757_T,SLC12A7,Missense_Mutation,NM_006598,exon16,c.G2014A,p.A672T,SNP,SNVindel,exonic,SLC12A7,NA,nonsynonymous SNV,SLC12A7:NM_006598:exon16:c.G2014A:p.A672T,T,D,D,D,D,T
chr5,10239261,10239261,G,A,P243757_T,ATPSCKMT,Missense_Mutation,NM_001258388,exon2,c.C224T,p.T75M,SNP,SNVindel,exonic,ATPSCKMT,NA,nonsynonymous SNV,"ATPSCKMT:NM_001258388:exon2:c.C224T:p.T75M,ATPSCKMT:NM_001258389:exon2:c.C224T:p.T75M,ATPSCKMT:NM_199133:exon2:c.C224T:p.T75M",T,N,P,T,D,T
chr5,35861068,35861068,T,C,P243757_T,IL7R,Missense_Mutation,NM_002185,exon2,c.T197C,p.I66T,SNP,SNVindel,exonic,IL7R,NA,nonsynonymous SNV,IL7R:NM_002185:exon2:c.T197C:p.I66T,T,N,P,T,N,T
chr5,41008780,41008780,A,G,P243757_T,MROH2B,Missense_Mutation,NM_173489,exon33,c.T3536C,p.L1179P,SNP,SNVindel,exonic,MROH2B,NA,nonsynonymous SNV,MROH2B:NM_173489:exon33:c.T3536C:p.L1179P,T,N,P,T,N,T
chr5,79439630,79439630,G,A,P243757_T,SERINC5,Silent,NM_001174072,exon12,c.C1242T,p.Y414Y,SNP,SNVindel,exonic,SERINC5,NA,synonymous SNV,SERINC5:NM_001174072:exon12:c.C1242T:p.Y414Y,NA,NA,NA,NA,NA,NA
chr5,79966029,79966029,G,A,P243757_T,MSH3,Silent,NM_002439,exon4,c.G693A,p.P231P,SNP,SNVindel,exonic,MSH3,NA,synonymous SNV,MSH3:NM_002439:exon4:c.G693A:p.P231P,NA,NA,NA,NA,NA,NA
chr5,111066697,111066697,T,C,P243757_T,NREP,Missense_Mutation,NM_001142483,exon3,c.A128G,p.E43G,SNP,SNVindel,exonic,NREP,NA,nonsynonymous SNV,"NREP:NM_001142483:exon3:c.A128G:p.E43G,NREP:NM_001142474:exon4:c.A230G:p.E77G,NREP:NM_001142475:exon4:c.A260G:p.E87G,NREP:NM_004772:exon4:c.A128G:p.E43G,NREP:NM_001142476:exon5:c.A128G:p.E43G,NREP:NM_001142477:exon5:c.A128G:p.E43G,NREP:NM_001142478:exon5:c.A128G:p.E43G,NREP:NM_001142479:exon5:c.A128G:p.E43G,NREP:NM_001142480:exon5:c.A128G:p.E43G,NREP:NM_001142481:exon5:c.A128G:p.E43G,NREP:NM_001142482:exon5:c.A128G:p.E43G",T,N,P,T,D,T
chr5,131042203,131042203,G,A,P243757_T,FNIP1,Missense_Mutation,NM_001008738,exon8,c.C731T,p.S244F,SNP,SNVindel,exonic,FNIP1,NA,nonsynonymous SNV,"FNIP1:NM_001008738:exon8:c.C731T:p.S244F,FNIP1:NM_001346114:exon8:c.C680T:p.S227F,FNIP1:NM_001346113:exon9:c.C815T:p.S272F,FNIP1:NM_133372:exon9:c.C815T:p.S272F",T,.,D,T,D,T
chr5,140572763,140572763,C,G,P243757_T,PCDHB10,Missense_Mutation,NM_018930,exon1,c.C638G,p.T213R,SNP,SNVindel,exonic,PCDHB10,NA,nonsynonymous SNV,PCDHB10:NM_018930:exon1:c.C638G:p.T213R,D,.,P,T,D,T
chr5,157158553,157158553,C,T,P243757_T,THG1L,Silent,NM_017872,exon1,c.C105T,p.F35F,SNP,SNVindel,exonic,THG1L,NA,synonymous SNV,THG1L:NM_017872:exon1:c.C105T:p.F35F,NA,NA,NA,NA,NA,NA
chr5,169461547,169461547,C,T,P243757_T,DOCK2,Silent,NM_004946,exon35,c.C3612T,p.T1204T,SNP,SNVindel,exonic,DOCK2,NA,synonymous SNV,DOCK2:NM_004946:exon35:c.C3612T:p.T1204T,NA,NA,NA,NA,NA,NA
chr6,24653273,24653273,G,C,P243757_T,TDP2,Missense_Mutation,NM_016614,exon6,c.C745G,p.Q249E,SNP,SNVindel,exonic,TDP2,NA,nonsynonymous SNV,TDP2:NM_016614:exon6:c.C745G:p.Q249E,T,D,P,T,N,T
chr6,36393816,36393816,A,G,P243757_T,PXT1,Missense_Mutation,NM_152990,exon3,c.T44C,p.V15A,SNP,SNVindel,exonic,PXT1,NA,nonsynonymous SNV,PXT1:NM_152990:exon3:c.T44C:p.V15A,D,.,P,.,N,T
chr6,36882353,36882353,A,G,P243757_T,C6orf89,Silent,NM_152734,exon5,c.A600G,p.E200E,SNP,SNVindel,exonic,C6orf89,NA,synonymous SNV,"C6orf89:NM_152734:exon5:c.A600G:p.E200E,C6orf89:NM_001286635:exon6:c.A579G:p.E193E,C6orf89:NM_001286637:exon6:c.A261G:p.E87E,C6orf89:NM_001286636:exon7:c.A261G:p.E87E",NA,NA,NA,NA,NA,NA
chr6,38875752,38875752,A,G,P243757_T,DNAH8,Silent,NM_001371,exon63,c.A8718G,p.R2906R,SNP,SNVindel,exonic,DNAH8,NA,synonymous SNV,"DNAH8:NM_001371:exon63:c.A8718G:p.R2906R,DNAH8:NM_001206927:exon64:c.A9369G:p.R3123R",NA,NA,NA,NA,NA,NA
chr6,46802370,46802370,G,A,P243757_T,MEP1A,Silent,NM_005588,exon12,c.G1665A,p.T555T,SNP,SNVindel,exonic,MEP1A,NA,synonymous SNV,MEP1A:NM_005588:exon12:c.G1665A:p.T555T,NA,NA,NA,NA,NA,NA
chr6,46976812,46976812,T,C,P243757_T,ADGRF1,Missense_Mutation,NM_153840,exon11,c.A2359G,p.I787V,SNP,SNVindel,exonic,ADGRF1,NA,nonsynonymous SNV,ADGRF1:NM_153840:exon11:c.A2359G:p.I787V,T,N,P,T,N,T
chr6,114181294,114181294,G,A,P243757_T,MARCKS,Missense_Mutation,NM_002356,exon2,c.G538A,p.E180K,SNP,SNVindel,exonic,MARCKS,NA,nonsynonymous SNV,MARCKS:NM_002356:exon2:c.G538A:p.E180K,.,U,D,.,.,T
chr6,133105120,133105120,C,T,P243757_T,SLC18B1,Missense_Mutation,NM_052831,exon6,c.G610A,p.V204I,SNP,SNVindel,exonic,SLC18B1,NA,nonsynonymous SNV,SLC18B1:NM_052831:exon6:c.G610A:p.V204I,T,N,P,T,N,T
chr6,157803123,157803123,C,T,P243757_T,ZDHHC14,Missense_Mutation,NM_024630,exon1,c.C70T,p.P24S,SNP,SNVindel,exonic,ZDHHC14,NA,nonsynonymous SNV,"ZDHHC14:NM_024630:exon1:c.C70T:p.P24S,ZDHHC14:NM_153746:exon1:c.C70T:p.P24S",T,U,D,T,N,T
chr6,159692405,159692405,C,T,P243757_T,FNDC1,Silent,NM_032532,exon23,c.C5616T,p.I1872I,SNP,SNVindel,exonic,FNDC1,NA,synonymous SNV,FNDC1:NM_032532:exon23:c.C5616T:p.I1872I,NA,NA,NA,NA,NA,NA
chr6,166579270,166579270,C,T,P243757_T,TBXT,Missense_Mutation,NM_001366285,exon3,c.G530A,p.G177D,SNP,SNVindel,exonic,TBXT,NA,nonsynonymous SNV,"TBXT:NM_001366285:exon3:c.G530A:p.G177D,TBXT:NM_001270484:exon4:c.G530A:p.G177D,TBXT:NM_001366286:exon4:c.G530A:p.G177D,TBXT:NM_003181:exon4:c.G530A:p.G177D",D,D,P,T,D,T
chr7,635835,635835,G,A,P243757_T,PRKAR1B,Missense_Mutation,NM_001164758,exon7,c.C656T,p.T219M,SNP,SNVindel,exonic,PRKAR1B,NA,nonsynonymous SNV,"PRKAR1B:NM_001164758:exon7:c.C656T:p.T219M,PRKAR1B:NM_001164759:exon7:c.C656T:p.T219M,PRKAR1B:NM_001164760:exon7:c.C656T:p.T219M,PRKAR1B:NM_001164761:exon7:c.C656T:p.T219M,PRKAR1B:NM_001164762:exon7:c.C656T:p.T219M,PRKAR1B:NM_002735:exon7:c.C656T:p.T219M",D,U,D,D,D,D
chr7,21956405,21956405,G,A,P243757_T,CDCA7L,Silent,NM_001127371,exon2,c.C132T,p.C44C,SNP,SNVindel,exonic,CDCA7L,NA,synonymous SNV,"CDCA7L:NM_001127371:exon2:c.C132T:p.C44C,CDCA7L:NM_018719:exon2:c.C132T:p.C44C,CDCA7L:NM_001127370:exon3:c.C30T:p.C10C",NA,NA,NA,NA,NA,NA
chr7,37907304,37907304,T,C,P243757_T,NME8,Missense_Mutation,NM_016616,exon11,c.T622C,p.C208R,SNP,SNVindel,exonic,NME8,NA,nonsynonymous SNV,NME8:NM_016616:exon11:c.T622C:p.C208R,D,D,P,T,N,T
chr7,45104131,45104131,G,A,P243757_T,CCM2,Missense_Mutation,NM_001167934,exon3,c.G184A,p.V62I,SNP,SNVindel,exonic,CCM2,NA,nonsynonymous SNV,"CCM2:NM_001167934:exon3:c.G184A:p.V62I,CCM2:NM_001363459:exon3:c.G184A:p.V62I,CCM2:NM_001029835:exon4:c.G421A:p.V141I,CCM2:NM_001167935:exon4:c.G358A:p.V120I,CCM2:NM_001363458:exon4:c.G358A:p.V120I,CCM2:NM_031443:exon4:c.G358A:p.V120I",T,N,P,T,N,T
chr7,63538406,63538406,C,A,P243757_T,ZNF727,Missense_Mutation,NM_001159522,exon4,c.C979A,p.L327I,SNP,SNVindel,exonic,ZNF727,NA,nonsynonymous SNV,ZNF727:NM_001159522:exon4:c.C979A:p.L327I,.,.,N,.,.,T
chr7,76112249,76112249,A,C,P243757_T,DTX2,Silent,NM_001102596,exon2,c.A693C,p.P231P,SNP,SNVindel,exonic,DTX2,NA,synonymous SNV,"DTX2:NM_001102596:exon2:c.A693C:p.P231P,DTX2:NM_001102595:exon3:c.A693C:p.P231P,DTX2:NM_001102594:exon4:c.A693C:p.P231P,DTX2:NM_020892:exon5:c.A693C:p.P231P",NA,NA,NA,NA,NA,NA
chr7,77256713,77256713,A,G,P243757_T,PTPN12,Missense_Mutation,NM_001131009,exon12,c.A1327G,p.T443A,SNP,SNVindel,exonic,PTPN12,NA,nonsynonymous SNV,"PTPN12:NM_001131009:exon12:c.A1327G:p.T443A,PTPN12:NM_001131008:exon13:c.A1360G:p.T454A,PTPN12:NM_002835:exon13:c.A1717G:p.T573A",T,N,P,T,N,T
chr7,87092213,87092213,G,A,P243757_T,ABCB4,Silent,NM_000443,exon4,c.C147T,p.S49S,SNP,SNVindel,exonic,ABCB4,NA,synonymous SNV,"ABCB4:NM_000443:exon4:c.C147T:p.S49S,ABCB4:NM_018849:exon4:c.C147T:p.S49S,ABCB4:NM_018850:exon4:c.C147T:p.S49S",NA,NA,NA,NA,NA,NA
chr7,92734451,92734451,A,G,P243757_T,SAMD9,Silent,NM_001193307,exon2,c.T960C,p.Y320Y,SNP,SNVindel,exonic,SAMD9,NA,synonymous SNV,"SAMD9:NM_001193307:exon2:c.T960C:p.Y320Y,SAMD9:NM_017654:exon3:c.T960C:p.Y320Y",NA,NA,NA,NA,NA,NA
chr7,98650051,98650051,G,C,P243757_T,SMURF1,Silent,NM_001199847,exon7,c.C498G,p.S166S,SNP,SNVindel,exonic,SMURF1,NA,synonymous SNV,"SMURF1:NM_001199847:exon7:c.C498G:p.S166S,SMURF1:NM_020429:exon7:c.C498G:p.S166S,SMURF1:NM_181349:exon7:c.C498G:p.S166S",NA,NA,NA,NA,NA,NA
chr7,100373077,100373077,C,G,P243757_T,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,.,N,P,T,D,T
chr7,134264286,134264286,C,T,P243757_T,AKR1B15,Silent,NM_001367820,exon11,c.C1020T,p.F340F,SNP,SNVindel,exonic,AKR1B15,NA,synonymous SNV,"AKR1B15:NM_001367820:exon11:c.C1020T:p.F340F,AKR1B15:NM_001367821:exon11:c.C936T:p.F312F,AKR1B15:NM_001080538:exon12:c.C1020T:p.F340F",NA,NA,NA,NA,NA,NA
chr7,138344649,138344649,G,A,P243757_T,SVOPL,Missense_Mutation,NM_001331192,exon3,c.C157T,p.R53W,SNP,SNVindel,exonic,SVOPL,NA,nonsynonymous SNV,"SVOPL:NM_001331192:exon3:c.C157T:p.R53W,SVOPL:NM_001139456:exon5:c.C430T:p.R144W",D,.,D,T,D,D
chr7,141464765,141464765,C,T,P243757_T,TAS2R3,Silent,NM_016943,exon1,c.C807T,p.G269G,SNP,SNVindel,exonic,TAS2R3,NA,synonymous SNV,TAS2R3:NM_016943:exon1:c.C807T:p.G269G,NA,NA,NA,NA,NA,NA
chr8,11162496,11162496,A,C,P243757_T,MTMR9,Silent,NM_015458,exon4,c.A564C,p.L188L,SNP,SNVindel,exonic,MTMR9,NA,synonymous SNV,MTMR9:NM_015458:exon4:c.A564C:p.L188L,NA,NA,NA,NA,NA,NA
chr8,20110641,20110641,C,T,P243757_T,LZTS1,Silent,NM_001362884,exon3,c.G801A,p.E267E,SNP,SNVindel,exonic,LZTS1,NA,synonymous SNV,"LZTS1:NM_001362884:exon3:c.G801A:p.E267E,LZTS1:NM_021020:exon3:c.G801A:p.E267E",NA,NA,NA,NA,NA,NA
chr8,70512938,70512938,C,T,P243757_T,SULF1,Nonsense_Mutation,NM_001128204,exon8,c.C835T,p.Q279X,SNP,SNVindel,exonic,SULF1,NA,stopgain,"SULF1:NM_001128204:exon8:c.C835T:p.Q279X,SULF1:NM_001128206:exon8:c.C835T:p.Q279X,SULF1:NM_001128205:exon9:c.C835T:p.Q279X,SULF1:NM_015170:exon9:c.C835T:p.Q279X",.,D,A,.,.,.
chr8,101153024,101153024,G,A,P243757_T,FBXO43,Silent,NM_001029860,exon2,c.C1458T,p.I486I,SNP,SNVindel,exonic,FBXO43,NA,synonymous SNV,FBXO43:NM_001029860:exon2:c.C1458T:p.I486I,NA,NA,NA,NA,NA,NA
chr8,124195360,124195360,G,A,P243757_T,FAM83A,Silent,NM_001288587,exon1,c.G264A,p.A88A,SNP,SNVindel,exonic,FAM83A,NA,synonymous SNV,"FAM83A:NM_001288587:exon1:c.G264A:p.A88A,FAM83A:NM_001321630:exon1:c.G264A:p.A88A,FAM83A:NM_032899:exon2:c.G264A:p.A88A,FAM83A:NM_207006:exon2:c.G264A:p.A88A",NA,NA,NA,NA,NA,NA
chr8,132982824,132982824,A,G,P243757_T,EFR3A,Missense_Mutation,NM_001323553,exon10,c.A985G,p.N329D,SNP,SNVindel,exonic,EFR3A,NA,nonsynonymous SNV,"EFR3A:NM_001323553:exon10:c.A985G:p.N329D,EFR3A:NM_001323554:exon10:c.A985G:p.N329D,EFR3A:NM_001323555:exon10:c.A985G:p.N329D,EFR3A:NM_001323556:exon10:c.A985G:p.N329D,EFR3A:NM_001323557:exon10:c.A985G:p.N329D,EFR3A:NM_001323558:exon10:c.A1093G:p.N365D,EFR3A:NM_015137:exon10:c.A1093G:p.N365D",T,N,P,T,N,T
chr8,145535867,145535867,G,A,P243757_T,HSF1,Missense_Mutation,NM_005526,exon9,c.G1079A,p.R360Q,SNP,SNVindel,exonic,HSF1,NA,nonsynonymous SNV,HSF1:NM_005526:exon9:c.G1079A:p.R360Q,T,N,N,.,N,T
chr9,34257518,34257518,C,T,P243757_T,KIF24,Missense_Mutation,NM_194313,exon11,c.G2087A,p.R696H,SNP,SNVindel,exonic,KIF24,NA,nonsynonymous SNV,KIF24:NM_194313:exon11:c.G2087A:p.R696H,T,N,N,T,N,T
chr9,96097673,96097673,G,A,P243757_T,C9orf129,Silent,NM_001098808,exon3,c.C348T,p.G116G,SNP,SNVindel,exonic,C9orf129,NA,synonymous SNV,"C9orf129:NM_001098808:exon3:c.C348T:p.G116G,C9orf129:NM_001368813:exon3:c.C348T:p.G116G",NA,NA,NA,NA,NA,NA
chr9,107361312,107361312,T,C,P243757_T,OR13C5,Missense_Mutation,NM_001004482,exon1,c.A383G,p.N128S,SNP,SNVindel,exonic,OR13C5,NA,nonsynonymous SNV,OR13C5:NM_001004482:exon1:c.A383G:p.N128S,D,N,P,T,D,T
chr9,116136198,116136198,C,T,P243757_T,HDHD3,Missense_Mutation,NM_001304511,exon2,c.G437A,p.G146E,SNP,SNVindel,exonic,HDHD3,NA,nonsynonymous SNV,"HDHD3:NM_001304511:exon2:c.G437A:p.G146E,HDHD3:NM_031219:exon2:c.G437A:p.G146E,HDHD3:NM_001304509:exon3:c.G437A:p.G146E,HDHD3:NM_001304510:exon3:c.G437A:p.G146E",T,N,P,T,N,T
chr9,123605126,123605126,T,C,P243757_T,PSMD5,Missense_Mutation,NM_001270427,exon1,c.A62G,p.E21G,SNP,SNVindel,exonic,PSMD5,NA,nonsynonymous SNV,"PSMD5:NM_001270427:exon1:c.A62G:p.E21G,PSMD5:NM_005047:exon1:c.A62G:p.E21G",D,D,P,T,N,T
chr9,139904728,139904728,G,A,P243757_T,ABCA2,Silent,NM_001606,exon41,c.C6270T,p.N2090N,SNP,SNVindel,exonic,ABCA2,NA,synonymous SNV,"ABCA2:NM_001606:exon41:c.C6270T:p.N2090N,ABCA2:NM_212533:exon41:c.C6360T:p.N2120N",NA,NA,NA,NA,NA,NA
chr10,1061767,1061767,G,A,P243757_T,GTPBP4,Silent,NM_012341,exon16,c.G1683A,p.P561P,SNP,SNVindel,exonic,GTPBP4,NA,synonymous SNV,GTPBP4:NM_012341:exon16:c.G1683A:p.P561P,NA,NA,NA,NA,NA,NA
chr10,3172121,3172121,C,T,P243757_T,PFKP,Silent,NM_001323070,exon11,c.C993T,p.A331A,SNP,SNVindel,exonic,PFKP,NA,synonymous SNV,"PFKP:NM_001323070:exon11:c.C993T:p.A331A,PFKP:NM_001323074:exon12:c.C1146T:p.A382A,PFKP:NM_001323073:exon13:c.C1146T:p.A382A,PFKP:NM_001323068:exon16:c.C1641T:p.A547A,PFKP:NM_001323067:exon17:c.C1713T:p.A571A,PFKP:NM_001323069:exon17:c.C1287T:p.A429A,PFKP:NM_001345944:exon17:c.C1680T:p.A560A,PFKP:NM_002627:exon17:c.C1794T:p.A598A,PFKP:NM_001323071:exon18:c.C1680T:p.A560A,PFKP:NM_001323072:exon18:c.C1680T:p.A560A,PFKP:NM_001242339:exon19:c.C1770T:p.A590A",NA,NA,NA,NA,NA,NA
chr10,27508758,27508758,T,C,P243757_T,ACBD5,Silent,NM_001301252,exon4,c.A192G,p.P64P,SNP,SNVindel,exonic,ACBD5,NA,synonymous SNV,"ACBD5:NM_001301252:exon4:c.A192G:p.P64P,ACBD5:NM_001301254:exon4:c.A192G:p.P64P,ACBD5:NM_001271512:exon5:c.A513G:p.P171P,ACBD5:NM_001301251:exon5:c.A192G:p.P64P,ACBD5:NM_001301253:exon5:c.A192G:p.P64P,ACBD5:NM_001352583:exon5:c.A192G:p.P64P,ACBD5:NM_001352584:exon5:c.A192G:p.P64P,ACBD5:NM_001352587:exon5:c.A513G:p.P171P,ACBD5:NM_001042473:exon6:c.A414G:p.P138P,ACBD5:NM_001352570:exon6:c.A519G:p.P173P,ACBD5:NM_001352571:exon6:c.A546G:p.P182P,ACBD5:NM_001352572:exon6:c.A540G:p.P180P,ACBD5:NM_001352577:exon6:c.A414G:p.P138P,ACBD5:NM_001352578:exon6:c.A414G:p.P138P,ACBD5:NM_001352579:exon6:c.A414G:p.P138P,ACBD5:NM_001352582:exon6:c.A414G:p.P138P,ACBD5:NM_001352585:exon6:c.A225G:p.P75P,ACBD5:NM_001352586:exon6:c.A546G:p.P182P,ACBD5:NM_001352588:exon6:c.A519G:p.P173P,ACBD5:NM_145698:exon6:c.A519G:p.P173P,ACBD5:NM_001352568:exon7:c.A573G:p.P191P,ACBD5:NM_001352569:exon7:c.A552G:p.P184P,ACBD5:NM_001352574:exon7:c.A447G:p.P149P,ACBD5:NM_001352575:exon7:c.A447G:p.P149P,ACBD5:NM_001352576:exon7:c.A447G:p.P149P,ACBD5:NM_001352581:exon7:c.A552G:p.P184P",NA,NA,NA,NA,NA,NA
chr10,34620220,34620220,C,T,P243757_T,PARD3,Silent,NM_001184791,exon16,c.G2442A,p.S814S,SNP,SNVindel,exonic,PARD3,NA,synonymous SNV,"PARD3:NM_001184791:exon16:c.G2442A:p.S814S,PARD3:NM_001184790:exon17:c.G2397A:p.S799S,PARD3:NM_001184786:exon18:c.G2619A:p.S873S,PARD3:NM_001184788:exon18:c.G2529A:p.S843S,PARD3:NM_001184789:exon18:c.G2529A:p.S843S,PARD3:NM_001184794:exon18:c.G2529A:p.S843S,PARD3:NM_001184785:exon19:c.G2658A:p.S886S,PARD3:NM_001184787:exon19:c.G2667A:p.S889S,PARD3:NM_001184792:exon19:c.G2658A:p.S886S,PARD3:NM_001184793:exon19:c.G2565A:p.S855S,PARD3:NM_019619:exon19:c.G2667A:p.S889S",NA,NA,NA,NA,NA,NA
chr10,50819182,50819182,T,C,P243757_T,SLC18A3,Silent,NM_003055,exon1,c.T396C,p.A132A,SNP,SNVindel,exonic,SLC18A3,NA,synonymous SNV,SLC18A3:NM_003055:exon1:c.T396C:p.A132A,NA,NA,NA,NA,NA,NA
chr10,58118380,58118380,C,T,P243757_T,ZWINT,Silent,NM_001005413,exon7,c.G588A,p.P196P,SNP,SNVindel,exonic,ZWINT,NA,synonymous SNV,"ZWINT:NM_001005413:exon7:c.G588A:p.P196P,ZWINT:NM_007057:exon7:c.G729A:p.P243P,ZWINT:NM_032997:exon7:c.G729A:p.P243P",NA,NA,NA,NA,NA,NA
chr10,70992635,70992635,G,A,P243757_T,HKDC1,Silent,NM_025130,exon3,c.G342A,p.T114T,SNP,SNVindel,exonic,HKDC1,NA,synonymous SNV,HKDC1:NM_025130:exon3:c.G342A:p.T114T,NA,NA,NA,NA,NA,NA
chr10,73453978,73453978,G,A,P243757_T,CDH23,Missense_Mutation,NM_001171930,exon20,c.G2251A,p.G751R,SNP,SNVindel,exonic,CDH23,NA,nonsynonymous SNV,"CDH23:NM_001171930:exon20:c.G2251A:p.G751R,CDH23:NM_001171931:exon20:c.G2251A:p.G751R,CDH23:NM_022124:exon20:c.G2251A:p.G751R",.,D,D,.,.,T
chr10,75533448,75533448,A,G,P243757_T,FUT11,Silent,NM_001284194,exon2,c.A1209G,p.K403K,SNP,SNVindel,exonic,FUT11,NA,synonymous SNV,"FUT11:NM_001284194:exon2:c.A1209G:p.K403K,FUT11:NM_173540:exon2:c.A1209G:p.K403K",NA,NA,NA,NA,NA,NA
chr10,118228763,118228763,T,C,P243757_T,PNLIPRP3,Missense_Mutation,NM_001011709,exon9,c.T994C,p.F332L,SNP,SNVindel,exonic,PNLIPRP3,NA,nonsynonymous SNV,PNLIPRP3:NM_001011709:exon9:c.T994C:p.F332L,T,N,P,D,N,T
chr11,1265872,1265872,G,A,P243757_T,MUC5B,Missense_Mutation,NM_002458,exon31,c.G7762A,p.G2588R,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.G7762A:p.G2588R,D,.,N,T,N,T
chr11,34938265,34938265,C,T,P243757_T,PDHX,Silent,NM_001166158,exon1,c.C63T,p.P21P,SNP,SNVindel,exonic,PDHX,NA,synonymous SNV,"PDHX:NM_001166158:exon1:c.C63T:p.P21P,PDHX:NM_003477:exon1:c.C63T:p.P21P",NA,NA,NA,NA,NA,NA
chr11,34991727,34991727,T,C,P243757_T,PDHX,Silent,NM_001135024,exon7,c.T813C,p.V271V,SNP,SNVindel,exonic,PDHX,NA,synonymous SNV,"PDHX:NM_001135024:exon7:c.T813C:p.V271V,PDHX:NM_003477:exon7:c.T858C:p.V286V",NA,NA,NA,NA,NA,NA
chr11,65715210,65715210,G,A,P243757_T,TSGA10IP,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TSGA10IP,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr11,66627579,66627579,G,A,P243757_T,LRFN4,Silent,NM_024036,exon2,c.G1821A,p.R607R,SNP,SNVindel,exonic,LRFN4,NA,synonymous SNV,"LRFN4:NM_024036:exon2:c.G1821A:p.R607R,LRFN4:NM_001363524:exon3:c.G1821A:p.R607R",NA,NA,NA,NA,NA,NA
chr11,89531764,89531764,T,C,P243757_T,TRIM49,Missense_Mutation,NM_020358,exon8,c.A893G,p.N298S,SNP,SNVindel,exonic,TRIM49,NA,nonsynonymous SNV,TRIM49:NM_020358:exon8:c.A893G:p.N298S,T,.,P,T,N,T
chr11,111179054,111179054,A,G,P243757_T,COLCA2,Silent,NM_001136105,exon5,c.A357G,p.A119A,SNP,SNVindel,exonic,COLCA2,NA,synonymous SNV,"COLCA2:NM_001136105:exon5:c.A357G:p.A119A,COLCA2:NM_001271457:exon5:c.A357G:p.A119A,COLCA2:NM_001271458:exon5:c.A648G:p.A216A,COLCA2:NM_001370484:exon5:c.A357G:p.A119A",NA,NA,NA,NA,NA,NA
chr11,125479363,125479363,G,A,P243757_T,STT3A,Silent,NM_001278504,exon9,c.G720A,p.S240S,SNP,SNVindel,exonic,STT3A,NA,synonymous SNV,"STT3A:NM_001278504:exon9:c.G720A:p.S240S,STT3A:NM_152713:exon10:c.G996A:p.S332S,STT3A:NM_001278503:exon11:c.G996A:p.S332S",NA,NA,NA,NA,NA,NA
chr11,134086884,134086884,G,A,P243757_T,NCAPD3,Nonsense_Mutation,NM_015261,exon3,c.C328T,p.R110X,SNP,SNVindel,exonic,NCAPD3,NA,stopgain,NCAPD3:NM_015261:exon3:c.C328T:p.R110X,.,D,A,.,.,.
chr12,3788145,3788145,C,T,P243757_T,CRACR2A,Missense_Mutation,NM_001144958,exon6,c.G460A,p.E154K,SNP,SNVindel,exonic,CRACR2A,NA,nonsynonymous SNV,"CRACR2A:NM_001144958:exon6:c.G460A:p.E154K,CRACR2A:NM_032680:exon6:c.G460A:p.E154K",T,N,P,T,N,T
chr12,3788222,3788222,G,A,P243757_T,CRACR2A,Missense_Mutation,NM_001144958,exon6,c.C383T,p.A128V,SNP,SNVindel,exonic,CRACR2A,NA,nonsynonymous SNV,"CRACR2A:NM_001144958:exon6:c.C383T:p.A128V,CRACR2A:NM_032680:exon6:c.C383T:p.A128V",T,N,P,T,N,T
chr12,6933422,6933422,C,T,P243757_T,GPR162,Missense_Mutation,NM_019858,exon2,c.C358T,p.R120C,SNP,SNVindel,exonic,GPR162,NA,nonsynonymous SNV,GPR162:NM_019858:exon2:c.C358T:p.R120C,T,.,D,T,D,T
chr12,40702911,40702911,G,A,P243757_T,LRRK2,Missense_Mutation,NM_198578,exon30,c.G4193A,p.R1398H,SNP,SNVindel,exonic,LRRK2,NA,nonsynonymous SNV,LRRK2:NM_198578:exon30:c.G4193A:p.R1398H,T,D,P,T,N,T
chr12,52863564,52863564,C,T,P243757_T,KRT6C,Silent,NM_173086,exon7,c.G1314A,p.K438K,SNP,SNVindel,exonic,KRT6C,NA,synonymous SNV,KRT6C:NM_173086:exon7:c.G1314A:p.K438K,NA,NA,NA,NA,NA,NA
chr12,104153004,104153004,C,G,P243757_T,STAB2,Missense_Mutation,NM_017564,exon65,c.C7201G,p.L2401V,SNP,SNVindel,exonic,STAB2,NA,nonsynonymous SNV,STAB2:NM_017564:exon65:c.C7201G:p.L2401V,T,N,P,D,N,T
chr12,112616809,112616809,G,A,P243757_T,HECTD4,Silent,NM_001109662,exon64,c.C11319T,p.P3773P,SNP,SNVindel,exonic,HECTD4,NA,synonymous SNV,HECTD4:NM_001109662:exon64:c.C11319T:p.P3773P,NA,NA,NA,NA,NA,NA
chr12,117693817,117693817,G,A,P243757_T,NOS1,Missense_Mutation,NM_001204218,exon17,c.C2557T,p.P853S,SNP,SNVindel,exonic,NOS1,NA,nonsynonymous SNV,NOS1:NM_001204218:exon17:c.C2557T:p.P853S,T,.,P,T,N,T
chr12,132241115,132241115,G,A,P243757_T,SFSWAP,Missense_Mutation,NM_001261411,exon11,c.G1646A,p.G549E,SNP,SNVindel,exonic,SFSWAP,NA,nonsynonymous SNV,"SFSWAP:NM_001261411:exon11:c.G1646A:p.G549E,SFSWAP:NM_004592:exon11:c.G1646A:p.G549E",T,N,N,T,N,T
chr13,25457399,25457399,G,A,P243757_T,CENPJ,Silent,NM_018451,exon17,c.C3933T,p.N1311N,SNP,SNVindel,exonic,CENPJ,NA,synonymous SNV,CENPJ:NM_018451:exon17:c.C3933T:p.N1311N,NA,NA,NA,NA,NA,NA
chr13,31231806,31231806,T,C,P243757_T,USPL1,Missense_Mutation,NM_001321534,exon6,c.T605C,p.L202S,SNP,SNVindel,exonic,USPL1,NA,nonsynonymous SNV,"USPL1:NM_001321534:exon6:c.T605C:p.L202S,USPL1:NM_001321533:exon7:c.T605C:p.L202S,USPL1:NM_001321532:exon8:c.T1049C:p.L350S,USPL1:NM_005800:exon9:c.T1592C:p.L531S",T,N,P,T,N,T
chr14,21769164,21769164,G,A,P243757_T,RPGRIP1,Silent,NM_020366,exon3,c.G258A,p.R86R,SNP,SNVindel,exonic,RPGRIP1,NA,synonymous SNV,RPGRIP1:NM_020366:exon3:c.G258A:p.R86R,NA,NA,NA,NA,NA,NA
chr14,24587667,24587667,C,T,P243757_T,DCAF11,Silent,NM_001163484,exon7,c.C648T,p.D216D,SNP,SNVindel,exonic,DCAF11,NA,synonymous SNV,"DCAF11:NM_001163484:exon7:c.C648T:p.D216D,DCAF11:NM_025230:exon7:c.C648T:p.D216D,DCAF11:NM_181357:exon7:c.C570T:p.D190D",NA,NA,NA,NA,NA,NA
chr14,39650824,39650824,C,T,P243757_T,PNN,Silent,NM_002687,exon9,c.C1911T,p.G637G,SNP,SNVindel,exonic,PNN,NA,synonymous SNV,PNN:NM_002687:exon9:c.C1911T:p.G637G,NA,NA,NA,NA,NA,NA
chr14,52906081,52906081,T,G,P243757_T,TXNDC16,Silent,NM_001160047,exon20,c.A2020C,p.R674R,SNP,SNVindel,exonic,TXNDC16,NA,synonymous SNV,"TXNDC16:NM_001160047:exon20:c.A2020C:p.R674R,TXNDC16:NM_020784:exon20:c.A2035C:p.R679R",NA,NA,NA,NA,NA,NA
chr14,52907353,52907353,C,T,P243757_T,TXNDC16,Silent,NM_001160047,exon19,c.G1917A,p.Q639Q,SNP,SNVindel,exonic,TXNDC16,NA,synonymous SNV,"TXNDC16:NM_001160047:exon19:c.G1917A:p.Q639Q,TXNDC16:NM_020784:exon19:c.G1932A:p.Q644Q",NA,NA,NA,NA,NA,NA
chr14,52937255,52937255,C,T,P243757_T,TXNDC16,Missense_Mutation,NM_001160047,exon15,c.G1441A,p.E481K,SNP,SNVindel,exonic,TXNDC16,NA,nonsynonymous SNV,"TXNDC16:NM_001160047:exon15:c.G1441A:p.E481K,TXNDC16:NM_020784:exon15:c.G1456A:p.E486K",T,N,P,T,N,T
chr14,65246623,65246623,T,C,P243757_T,SPTB,Silent,NM_001024858,exon20,c.A4293G,p.R1431R,SNP,SNVindel,exonic,SPTB,NA,synonymous SNV,"SPTB:NM_001024858:exon20:c.A4293G:p.R1431R,SPTB:NM_001355436:exon21:c.A4293G:p.R1431R,SPTB:NM_001355437:exon21:c.A4293G:p.R1431R",NA,NA,NA,NA,NA,NA
chr14,93199080,93199080,C,T,P243757_T,LGMN,Missense_Mutation,NM_005606,exon2,c.G52A,p.V18I,SNP,SNVindel,exonic,LGMN,NA,nonsynonymous SNV,"LGMN:NM_005606:exon2:c.G52A:p.V18I,LGMN:NM_001008530:exon3:c.G52A:p.V18I,LGMN:NM_001363696:exon3:c.G52A:p.V18I,LGMN:NM_001363699:exon3:c.G52A:p.V18I",T,N,P,T,N,T
chr14,99959891,99959891,C,T,P243757_T,CCNK,Missense_Mutation,NM_001099402,exon3,c.C238T,p.R80C,SNP,SNVindel,exonic,CCNK,NA,nonsynonymous SNV,CCNK:NM_001099402:exon3:c.C238T:p.R80C,D,D,D,T,D,D
chr14,105063422,105063422,G,A,P243757_T,TMEM179,Silent,NM_001286389,exon2,c.C348T,p.F116F,SNP,SNVindel,exonic,TMEM179,NA,synonymous SNV,"TMEM179:NM_001286389:exon2:c.C348T:p.F116F,TMEM179:NM_001286390:exon2:c.C348T:p.F116F",NA,NA,NA,NA,NA,NA
chr14,105419446,105419446,T,G,P243757_T,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.A2042C,p.K681T,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.A2042C:p.K681T,AHNAK2:NM_138420:exon7:c.A2342C:p.K781T",T,.,N,T,D,T
chr14,105461067,105461067,C,T,P243757_T,CLBA1,Silent,NM_174891,exon5,c.C949T,p.L317L,SNP,SNVindel,exonic,CLBA1,NA,synonymous SNV,CLBA1:NM_174891:exon5:c.C949T:p.L317L,NA,NA,NA,NA,NA,NA
chr15,40581543,40581543,T,C,P243757_T,PLCB2,Missense_Mutation,NM_001284298,exon30,c.A3239G,p.E1080G,SNP,SNVindel,exonic,PLCB2,NA,nonsynonymous SNV,"PLCB2:NM_001284298:exon30:c.A3239G:p.E1080G,PLCB2:NM_001284297:exon31:c.A3272G:p.E1091G,PLCB2:NM_004573:exon31:c.A3284G:p.E1095G",T,N,P,T,N,T
chr15,40588824,40588824,C,T,P243757_T,PLCB2,Missense_Mutation,NM_001284297,exon15,c.G1486A,p.E496K,SNP,SNVindel,exonic,PLCB2,NA,nonsynonymous SNV,"PLCB2:NM_001284297:exon15:c.G1486A:p.E496K,PLCB2:NM_001284298:exon15:c.G1498A:p.E500K,PLCB2:NM_004573:exon15:c.G1498A:p.E500K",D,N,D,T,N,T
chr15,43819237,43819237,C,T,P243757_T,MAP1A,Missense_Mutation,NM_002373,exon4,c.C5566T,p.P1856S,SNP,SNVindel,exonic,MAP1A,NA,nonsynonymous SNV,MAP1A:NM_002373:exon4:c.C5566T:p.P1856S,D,N,D,T,N,T
chr15,52531941,52531941,A,G,P243757_T,MYO5C,Silent,NM_018728,exon21,c.T2692C,p.L898L,SNP,SNVindel,exonic,MYO5C,NA,synonymous SNV,MYO5C:NM_018728:exon21:c.T2692C:p.L898L,NA,NA,NA,NA,NA,NA
chr15,65555562,65555562,C,T,P243757_T,PARP16,Missense_Mutation,NM_001316944,exon2,c.G271A,p.G91S,SNP,SNVindel,exonic,PARP16,NA,nonsynonymous SNV,"PARP16:NM_001316944:exon2:c.G271A:p.G91S,PARP16:NM_001316943:exon4:c.G616A:p.G206S,PARP16:NM_017851:exon4:c.G616A:p.G206S",D,D,D,T,D,T
chr15,69007569,69007569,C,T,P243757_T,CORO2B,Missense_Mutation,NM_001190456,exon8,c.C871T,p.R291W,SNP,SNVindel,exonic,CORO2B,NA,nonsynonymous SNV,"CORO2B:NM_001190456:exon8:c.C871T:p.R291W,CORO2B:NM_001190457:exon8:c.C871T:p.R291W,CORO2B:NM_001324015:exon8:c.C871T:p.R291W,CORO2B:NM_006091:exon8:c.C886T:p.R296W,CORO2B:NM_001324014:exon9:c.C871T:p.R291W",D,D,D,T,D,T
chr15,70346923,70346923,C,T,P243757_T,TLE3,Silent,NM_001282982,exon14,c.G1470A,p.S490S,SNP,SNVindel,exonic,TLE3,NA,synonymous SNV,"TLE3:NM_001282982:exon14:c.G1470A:p.S490S,TLE3:NM_001105192:exon16:c.G1680A:p.S560S,TLE3:NM_001282979:exon16:c.G1665A:p.S555S,TLE3:NM_001282980:exon16:c.G1674A:p.S558S,TLE3:NM_001282981:exon16:c.G1659A:p.S553S,TLE3:NM_005078:exon16:c.G1689A:p.S563S,TLE3:NM_020908:exon16:c.G1653A:p.S551S",NA,NA,NA,NA,NA,NA
chr15,72668305,72668305,G,A,P243757_T,HEXA,Silent,NM_000520,exon1,c.C9T,p.S3S,SNP,SNVindel,exonic,HEXA,NA,synonymous SNV,"HEXA:NM_000520:exon1:c.C9T:p.S3S,HEXA:NM_001318825:exon1:c.C9T:p.S3S",NA,NA,NA,NA,NA,NA
chr15,86122654,86122654,T,C,P243757_T,AKAP13,Missense_Mutation,NM_006738,exon7,c.T1355C,p.M452T,SNP,SNVindel,exonic,AKAP13,NA,nonsynonymous SNV,"AKAP13:NM_006738:exon7:c.T1355C:p.M452T,AKAP13:NM_007200:exon7:c.T1355C:p.M452T",T,.,P,T,N,T
chr16,1536507,1536507,G,A,P243757_T,PTX4,Silent,NM_001013658,exon3,c.C855T,p.F285F,SNP,SNVindel,exonic,PTX4,NA,synonymous SNV,"PTX4:NM_001013658:exon3:c.C855T:p.F285F,PTX4:NM_001328608:exon3:c.C870T:p.F290F",D,.,D,T,N,.
chr16,2035868,2035868,C,T,P243757_T,GFER,Silent,NM_005262,exon3,c.C457T,p.L153L,SNP,SNVindel,exonic,GFER,NA,synonymous SNV,GFER:NM_005262:exon3:c.C457T:p.L153L,T,.,P,.,N,.
chr16,4790273,4790273,G,A,P243757_T,C16orf71,Silent,NM_139170,exon4,c.G396A,p.E132E,SNP,SNVindel,exonic,C16orf71,NA,synonymous SNV,C16orf71:NM_139170:exon4:c.G396A:p.E132E,NA,NA,NA,NA,NA,NA
chr16,4797457,4797457,C,T,P243757_T,C16orf71,Missense_Mutation,NM_139170,exon9,c.C1394T,p.P465L,SNP,SNVindel,exonic,C16orf71,NA,nonsynonymous SNV,C16orf71:NM_139170:exon9:c.C1394T:p.P465L,T,N,P,T,D,T
chr16,11001840,11001840,G,A,P243757_T,CIITA,Missense_Mutation,NM_000246,exon11,c.G2491A,p.G831S,SNP,SNVindel,exonic,CIITA,NA,nonsynonymous SNV,"CIITA:NM_000246:exon11:c.G2491A:p.G831S,CIITA:NM_001286402:exon11:c.G2494A:p.G832S",T,N,N,T,N,T
chr16,16196495,16196495,G,A,P243757_T,ABCC1,Missense_Mutation,NM_004996,exon20,c.G2656A,p.V886I,SNP,SNVindel,exonic,ABCC1,NA,nonsynonymous SNV,ABCC1:NM_004996:exon20:c.G2656A:p.V886I,T,N,N,D,N,T
chr16,16228282,16228282,G,A,P243757_T,ABCC1,Missense_Mutation,NM_004996,exon28,c.G4042A,p.E1348K,SNP,SNVindel,exonic,ABCC1,NA,nonsynonymous SNV,ABCC1:NM_004996:exon28:c.G4042A:p.E1348K,T,N,N,D,N,T
chr16,19127062,19127062,G,A,P243757_T,ITPRIPL2,Missense_Mutation,NM_001034841,exon1,c.G1279A,p.E427K,SNP,SNVindel,exonic,ITPRIPL2,NA,nonsynonymous SNV,ITPRIPL2:NM_001034841:exon1:c.G1279A:p.E427K,T,U,D,T,N,T
chr16,20959918,20959918,G,A,P243757_T,DNAH3,Missense_Mutation,NM_001347886,exon57,c.C11092T,p.R3698W,SNP,SNVindel,exonic,DNAH3,NA,nonsynonymous SNV,"DNAH3:NM_001347886:exon57:c.C11092T:p.R3698W,DNAH3:NM_017539:exon57:c.C11230T:p.R3744W",D,D,P,T,D,T
chr16,22237118,22237118,A,G,P243757_T,EEF2K,Missense_Mutation,NM_013302,exon2,c.A68G,p.H23R,SNP,SNVindel,exonic,EEF2K,NA,nonsynonymous SNV,EEF2K:NM_013302:exon2:c.A68G:p.H23R,T,N,P,T,N,T
chr16,30037128,30037128,A,C,P243757_T,TLCD3B,Silent,NM_001318504,exon4,c.T309G,p.G103G,SNP,SNVindel,exonic,TLCD3B,NA,synonymous SNV,"TLCD3B:NM_001318504:exon4:c.T309G:p.G103G,TLCD3B:NM_031478:exon4:c.T459G:p.G153G,TLCD3B:NM_001352173:exon5:c.T717G:p.G239G",NA,NA,NA,NA,NA,NA
chr16,55527113,55527113,G,A,P243757_T,MMP2,Silent,NM_001127891,exon9,c.G1230A,p.T410T,SNP,SNVindel,exonic,MMP2,NA,synonymous SNV,"MMP2:NM_001127891:exon9:c.G1230A:p.T410T,MMP2:NM_001302508:exon9:c.G1152A:p.T384T,MMP2:NM_001302509:exon9:c.G1152A:p.T384T,MMP2:NM_001302510:exon9:c.G1152A:p.T384T,MMP2:NM_004530:exon9:c.G1380A:p.T460T",NA,NA,NA,NA,NA,NA
chr16,57950057,57950057,G,A,P243757_T,CNGB1,Silent,NM_001286130,exon22,c.C2175T,p.N725N,SNP,SNVindel,exonic,CNGB1,NA,synonymous SNV,"CNGB1:NM_001286130:exon22:c.C2175T:p.N725N,CNGB1:NM_001297:exon22:c.C2193T:p.N731N",NA,NA,NA,NA,NA,NA
chr16,67685182,67685182,C,T,P243757_T,CARMIL2,Silent,NM_001013838,exon23,c.C2277T,p.A759A,SNP,SNVindel,exonic,CARMIL2,NA,synonymous SNV,"CARMIL2:NM_001013838:exon23:c.C2277T:p.A759A,CARMIL2:NM_001317026:exon24:c.C2169T:p.A723A",NA,NA,NA,NA,NA,NA
chr16,70500159,70500159,G,A,P243757_T,FCSK,Missense_Mutation,NM_145059,exon5,c.G410A,p.R137Q,SNP,SNVindel,exonic,FCSK,NA,nonsynonymous SNV,FCSK:NM_145059:exon5:c.G410A:p.R137Q,T,N,D,T,N,T
chr16,84229780,84229780,C,T,P243757_T,ADAD2,Missense_Mutation,NM_001145400,exon8,c.C1330T,p.R444W,SNP,SNVindel,exonic,ADAD2,NA,nonsynonymous SNV,"ADAD2:NM_001145400:exon8:c.C1330T:p.R444W,ADAD2:NM_139174:exon9:c.C1576T:p.R526W",D,D,D,D,D,D
chr17,1578939,1578939,C,T,P243757_T,PRPF8,Silent,NM_006445,exon19,c.G2847A,p.P949P,SNP,SNVindel,exonic,PRPF8,NA,synonymous SNV,PRPF8:NM_006445:exon19:c.G2847A:p.P949P,NA,NA,NA,NA,NA,NA
chr17,2203326,2203326,C,T,P243757_T,SMG6,Missense_Mutation,NM_017575,exon2,c.G721A,p.A241T,SNP,SNVindel,exonic,SMG6,NA,nonsynonymous SNV,SMG6:NM_017575:exon2:c.G721A:p.A241T,T,N,N,T,N,T
chr17,3627473,3627473,C,T,P243757_T,HASPIN,Missense_Mutation,NM_031965,exon1,c.C244T,p.R82C,SNP,SNVindel,exonic,HASPIN,NA,nonsynonymous SNV,HASPIN:NM_031965:exon1:c.C244T:p.R82C,T,N,P,T,N,T
chr17,5058808,5058808,G,A,P243757_T,USP6,Missense_Mutation,NM_004505,exon23,c.G2735A,p.R912Q,SNP,SNVindel,exonic,USP6,NA,nonsynonymous SNV,"USP6:NM_004505:exon23:c.G2735A:p.R912Q,USP6:NM_001304284:exon31:c.G2735A:p.R912Q",T,D,P,T,N,T
chr17,5991344,5991344,C,T,P243757_T,WSCD1,Silent,NM_015253,exon3,c.C462T,p.H154H,SNP,SNVindel,exonic,WSCD1,NA,synonymous SNV,WSCD1:NM_015253:exon3:c.C462T:p.H154H,NA,NA,NA,NA,NA,NA
chr17,6330068,6330068,T,C,P243757_T,AIPL1,Silent,NM_001033054,exon4,c.A462G,p.P154P,SNP,SNVindel,exonic,AIPL1,NA,synonymous SNV,"AIPL1:NM_001033054:exon4:c.A462G:p.P154P,AIPL1:NM_001033055:exon4:c.A471G:p.P157P,AIPL1:NM_001285399:exon5:c.A615G:p.P205P,AIPL1:NM_001285400:exon5:c.A585G:p.P195P,AIPL1:NM_001285402:exon5:c.A534G:p.P178P,AIPL1:NM_001285403:exon5:c.A627G:p.P209P,AIPL1:NM_014336:exon5:c.A651G:p.P217P",NA,NA,NA,NA,NA,NA
chr17,7909879,7909879,G,A,P243757_T,GUCY2D,Missense_Mutation,NM_000180,exon4,c.G1225A,p.A409T,SNP,SNVindel,exonic,GUCY2D,NA,nonsynonymous SNV,GUCY2D:NM_000180:exon4:c.G1225A:p.A409T,D,N,D,T,N,T
chr17,10253952,10253952,C,T,P243757_T,MYH13,Silent,NM_003802,exon12,c.G1065A,p.T355T,SNP,SNVindel,exonic,MYH13,NA,synonymous SNV,MYH13:NM_003802:exon12:c.G1065A:p.T355T,NA,NA,NA,NA,NA,NA
chr17,18647625,18647625,T,A,P243757_T,FBXW10,Missense_Mutation,NM_001267585,exon1,c.T68A,p.I23N,SNP,SNVindel,exonic,FBXW10,NA,nonsynonymous SNV,"FBXW10:NM_001267585:exon1:c.T68A:p.I23N,FBXW10:NM_001267586:exon1:c.T68A:p.I23N",D,U,P,T,D,T
chr17,20799119,20799119,A,G,P243757_T,CCDC144NL,Missense_Mutation,NM_001004306,exon1,c.T215C,p.L72P,SNP,SNVindel,exonic,CCDC144NL,NA,nonsynonymous SNV,CCDC144NL:NM_001004306:exon1:c.T215C:p.L72P,T,.,P,T,N,T
chr17,26100237,26100237,G,A,P243757_T,NOS2,Silent,NM_000625,exon13,c.C1509T,p.D503D,SNP,SNVindel,exonic,NOS2,NA,synonymous SNV,NOS2:NM_000625:exon13:c.C1509T:p.D503D,NA,NA,NA,NA,NA,NA
chr17,28407876,28407876,T,G,P243757_T,EFCAB5,Silent,NM_198529,exon17,c.T3303G,p.G1101G,SNP,SNVindel,exonic,EFCAB5,NA,synonymous SNV,EFCAB5:NM_198529:exon17:c.T3303G:p.G1101G,NA,NA,NA,NA,NA,NA
chr17,39619193,39619193,C,T,P243757_T,KRT32,Missense_Mutation,NM_002278,exon6,c.G1106A,p.R369Q,SNP,SNVindel,exonic,KRT32,NA,nonsynonymous SNV,KRT32:NM_002278:exon6:c.G1106A:p.R369Q,D,N,P,D,D,T
chr17,40322252,40322252,T,C,P243757_T,KCNH4,Silent,NM_012285,exon8,c.A1263G,p.S421S,SNP,SNVindel,exonic,KCNH4,NA,synonymous SNV,KCNH4:NM_012285:exon8:c.A1263G:p.S421S,NA,NA,NA,NA,NA,NA
chr17,60751527,60751527,G,A,P243757_T,MRC2,Missense_Mutation,NM_006039,exon9,c.G1565A,p.R522Q,SNP,SNVindel,exonic,MRC2,NA,nonsynonymous SNV,MRC2:NM_006039:exon9:c.G1565A:p.R522Q,T,D,D,T,N,T
chr17,65104666,65104666,T,G,P243757_T,HELZ,Silent,NM_001330447,exon30,c.A4669C,p.R1557R,SNP,SNVindel,exonic,HELZ,NA,synonymous SNV,"HELZ:NM_001330447:exon30:c.A4669C:p.R1557R,HELZ:NM_014877:exon30:c.A4666C:p.R1556R",NA,NA,NA,NA,NA,NA
chr17,74275205,74275205,G,A,P243757_T,QRICH2,Silent,NM_032134,exon14,c.C4335T,p.P1445P,SNP,SNVindel,exonic,QRICH2,NA,synonymous SNV,QRICH2:NM_032134:exon14:c.C4335T:p.P1445P,NA,NA,NA,NA,NA,NA
chr17,76503624,76503624,C,T,P243757_T,DNAH17,Silent,NM_173628,exon28,c.G4500A,p.E1500E,SNP,SNVindel,exonic,DNAH17,NA,synonymous SNV,DNAH17:NM_173628:exon28:c.G4500A:p.E1500E,NA,NA,NA,NA,NA,NA
chr17,78319136,78319136,G,A,P243757_T,RNF213,Missense_Mutation,NM_001256071,exon29,c.G7001A,p.S2334N,SNP,SNVindel,exonic,RNF213,NA,nonsynonymous SNV,RNF213:NM_001256071:exon29:c.G7001A:p.S2334N,T,N,P,T,N,T
chr18,43420177,43420177,G,A,P243757_T,SIGLEC15,Silent,NM_213602,exon5,c.G876A,p.E292E,SNP,SNVindel,exonic,SIGLEC15,NA,synonymous SNV,SIGLEC15:NM_213602:exon5:c.G876A:p.E292E,NA,NA,NA,NA,NA,NA
chr18,56587802,56587802,A,C,P243757_T,ZNF532,Missense_Mutation,NM_001318726,exon3,c.A2283C,p.E761D,SNP,SNVindel,exonic,ZNF532,NA,nonsynonymous SNV,"ZNF532:NM_001318726:exon3:c.A2283C:p.E761D,ZNF532:NM_001318727:exon3:c.A2283C:p.E761D,ZNF532:NM_001353525:exon3:c.A2283C:p.E761D,ZNF532:NM_001353528:exon3:c.A2283C:p.E761D,ZNF532:NM_001353529:exon3:c.A2283C:p.E761D,ZNF532:NM_001353532:exon3:c.A2283C:p.E761D,ZNF532:NM_001353533:exon3:c.A2283C:p.E761D,ZNF532:NM_001353534:exon3:c.A2283C:p.E761D,ZNF532:NM_001353535:exon3:c.A2283C:p.E761D,ZNF532:NM_001353536:exon3:c.A2283C:p.E761D,ZNF532:NM_001353537:exon3:c.A2283C:p.E761D,ZNF532:NM_001353538:exon3:c.A2283C:p.E761D,ZNF532:NM_001318728:exon4:c.A2283C:p.E761D,ZNF532:NM_001353526:exon4:c.A2283C:p.E761D,ZNF532:NM_001353527:exon4:c.A2283C:p.E761D,ZNF532:NM_001353530:exon4:c.A2283C:p.E761D,ZNF532:NM_001353531:exon4:c.A2283C:p.E761D,ZNF532:NM_018181:exon4:c.A2283C:p.E761D",D,D,P,T,N,T
chr18,77473127,77473127,C,T,P243757_T,CTDP1,Missense_Mutation,NM_001202504,exon7,c.C662T,p.T221M,SNP,SNVindel,exonic,CTDP1,NA,nonsynonymous SNV,"CTDP1:NM_001202504:exon7:c.C662T:p.T221M,CTDP1:NM_001318511:exon7:c.C1019T:p.T340M,CTDP1:NM_004715:exon7:c.C1019T:p.T340M,CTDP1:NM_048368:exon7:c.C1019T:p.T340M",T,N,P,T,N,T
chr18,77805856,77805856,A,C,P243757_T,RBFA,Missense_Mutation,NM_024805,exon7,c.A733C,p.N245H,SNP,SNVindel,exonic,RBFA,NA,nonsynonymous SNV,RBFA:NM_024805:exon7:c.A733C:p.N245H,T,N,P,T,D,T
chr19,9267292,9267292,G,A,P243757_T,ZNF317,Silent,NM_001190791,exon3,c.G30A,p.T10T,SNP,SNVindel,exonic,ZNF317,NA,synonymous SNV,"ZNF317:NM_001190791:exon3:c.G30A:p.T10T,ZNF317:NM_020933:exon3:c.G30A:p.T10T",NA,NA,NA,NA,NA,NA
chr19,10738639,10738639,C,T,P243757_T,SLC44A2,Silent,NM_001145056,exon4,c.C198T,p.D66D,SNP,SNVindel,exonic,SLC44A2,NA,synonymous SNV,"SLC44A2:NM_001145056:exon4:c.C198T:p.D66D,SLC44A2:NM_001363611:exon4:c.C204T:p.D68D,SLC44A2:NM_020428:exon4:c.C204T:p.D68D",NA,NA,NA,NA,NA,NA
chr19,11233887,11233887,C,T,P243757_T,LDLR,Silent,NM_001195800,exon13,c.C1674T,p.T558T,SNP,SNVindel,exonic,LDLR,NA,synonymous SNV,"LDLR:NM_001195800:exon13:c.C1674T:p.T558T,LDLR:NM_001195803:exon13:c.C1644T:p.T548T,LDLR:NM_001195799:exon14:c.C2055T:p.T685T,LDLR:NM_000527:exon15:c.C2178T:p.T726T,LDLR:NM_001195798:exon15:c.C2178T:p.T726T",NA,NA,NA,NA,NA,NA
chr19,33490500,33490500,C,T,P243757_T,RHPN2,Missense_Mutation,NM_033103,exon10,c.G1217A,p.R406Q,SNP,SNVindel,exonic,RHPN2,NA,nonsynonymous SNV,RHPN2:NM_033103:exon10:c.G1217A:p.R406Q,T,N,N,T,N,T
chr19,35450229,35450229,C,T,P243757_T,ZNF792,Missense_Mutation,NM_175872,exon4,c.G530A,p.R177Q,SNP,SNVindel,exonic,ZNF792,NA,nonsynonymous SNV,ZNF792:NM_175872:exon4:c.G530A:p.R177Q,T,.,P,T,N,T
chr19,40832371,40832371,C,T,P243757_T,C19orf47,Silent,NM_001256440,exon7,c.G573A,p.E191E,SNP,SNVindel,exonic,C19orf47,NA,synonymous SNV,"C19orf47:NM_001256440:exon7:c.G573A:p.E191E,C19orf47:NM_001256441:exon7:c.G462A:p.E154E",NA,NA,NA,NA,NA,NA
chr19,41186879,41186879,A,G,P243757_T,NUMBL,Silent,NM_001289979,exon5,c.T360C,p.C120C,SNP,SNVindel,exonic,NUMBL,NA,synonymous SNV,"NUMBL:NM_001289979:exon5:c.T360C:p.C120C,NUMBL:NM_001289980:exon5:c.T360C:p.C120C,NUMBL:NM_004756:exon6:c.T483C:p.C161C",NA,NA,NA,NA,NA,NA
chr19,45810812,45810812,G,A,P243757_T,CKM,Missense_Mutation,NM_001824,exon7,c.C874T,p.R292C,SNP,SNVindel,exonic,CKM,NA,nonsynonymous SNV,CKM:NM_001824:exon7:c.C874T:p.R292C,D,D,D,T,D,T
chr19,52115645,52115645,G,C,P243757_T,SIGLEC5,Missense_Mutation,NM_003830,exon9,c.C1495G,p.P499A,SNP,SNVindel,exonic,SIGLEC5,NA,nonsynonymous SNV,SIGLEC5:NM_003830:exon9:c.C1495G:p.P499A,T,.,P,T,D,T
chr19,55396900,55396900,A,G,P243757_T,FCAR,Silent,NM_133272,exon2,c.A288G,p.R96R,SNP,SNVindel,exonic,FCAR,NA,synonymous SNV,"FCAR:NM_133272:exon2:c.A288G:p.R96R,FCAR:NM_133273:exon2:c.A288G:p.R96R,FCAR:NM_133274:exon2:c.A288G:p.R96R,FCAR:NM_133278:exon2:c.A288G:p.R96R,FCAR:NM_002000:exon3:c.A324G:p.R108R,FCAR:NM_133269:exon3:c.A324G:p.R108R,FCAR:NM_133271:exon3:c.A324G:p.R108R",NA,NA,NA,NA,NA,NA
chr19,55693244,55693244,T,C,P243757_T,PTPRH,Missense_Mutation,NM_001161440,exon18,c.A2692G,p.I898V,SNP,SNVindel,exonic,PTPRH,NA,nonsynonymous SNV,"PTPRH:NM_001161440:exon18:c.A2692G:p.I898V,PTPRH:NM_002842:exon20:c.A3226G:p.I1076V",T,N,P,T,N,T
chr20,23584368,23584368,G,A,P243757_T,CST9,Nonsense_Mutation,NM_001008693,exon2,c.C259T,p.R87X,SNP,SNVindel,exonic,CST9,NA,stopgain,CST9:NM_001008693:exon2:c.C259T:p.R87X,.,.,D,.,.,.
chr20,34219496,34219496,T,C,P243757_T,CPNE1,Missense_Mutation,NM_001198863,exon8,c.A632G,p.Q211R,SNP,SNVindel,exonic,CPNE1,NA,nonsynonymous SNV,"CPNE1:NM_001198863:exon8:c.A632G:p.Q211R,CPNE1:NM_003915:exon8:c.A647G:p.Q216R,CPNE1:NM_152925:exon8:c.A632G:p.Q211R,CPNE1:NM_152926:exon8:c.A632G:p.Q211R,CPNE1:NM_152927:exon9:c.A632G:p.Q211R,CPNE1:NM_152928:exon9:c.A632G:p.Q211R",T,N,P,T,N,T
chr20,45242269,45242269,G,C,P243757_T,SLC13A3,Silent,NM_001193339,exon2,c.C207G,p.L69L,SNP,SNVindel,exonic,SLC13A3,NA,synonymous SNV,"SLC13A3:NM_001193339:exon2:c.C207G:p.L69L,SLC13A3:NM_022829:exon2:c.C207G:p.L69L,SLC13A3:NM_001011554:exon3:c.C66G:p.L22L,SLC13A3:NM_001193340:exon3:c.C66G:p.L22L",NA,NA,NA,NA,NA,NA
chr20,47886684,47886684,G,A,P243757_T,ZNFX1,Silent,NM_021035,exon3,c.C1665T,p.Y555Y,SNP,SNVindel,exonic,ZNFX1,NA,synonymous SNV,ZNFX1:NM_021035:exon3:c.C1665T:p.Y555Y,NA,NA,NA,NA,NA,NA
chr20,60899206,60899206,C,T,P243757_T,LAMA5,Missense_Mutation,NM_005560,exon43,c.G5698A,p.V1900M,SNP,SNVindel,exonic,LAMA5,NA,nonsynonymous SNV,LAMA5:NM_005560:exon43:c.G5698A:p.V1900M,T,U,P,T,N,T
chr21,31864225,31864225,G,A,P243757_T,KRTAP19-3,Silent,NM_181609,exon1,c.C51T,p.G17G,SNP,SNVindel,exonic,KRTAP19-3,NA,synonymous SNV,KRTAP19-3:NM_181609:exon1:c.C51T:p.G17G,NA,NA,NA,NA,NA,NA
chr21,33951068,33951068,T,C,P243757_T,C21orf59-TCP10L,Missense_Mutation,NM_144659,exon4,c.A434G,p.H145R,SNP,SNVindel,exonic,C21orf59-TCP10L;TCP10L,NA,nonsynonymous SNV,"TCP10L:NM_144659:exon4:c.A434G:p.H145R,C21orf59-TCP10L:NM_001350338:exon7:c.A956G:p.H319R",T,.,P,T,N,T
chr22,29708400,29708400,C,T,P243757_T,GAS2L1,Missense_Mutation,NM_001278730,exon6,c.C1279T,p.R427C,SNP,SNVindel,exonic,GAS2L1,NA,nonsynonymous SNV,GAS2L1:NM_001278730:exon6:c.C1279T:p.R427C,D,.,D,T,D,T
chr22,42526694,42526694,G,A,P243757_T,CYP2D6,Missense_Mutation,NM_000106,exon1,c.C100T,p.P34S,SNP,SNVindel,exonic,CYP2D6,NA,nonsynonymous SNV,"CYP2D6:NM_000106:exon1:c.C100T:p.P34S,CYP2D6:NM_001025161:exon1:c.C100T:p.P34S",D,D,P,D,D,T
chr22,44368122,44368122,A,G,P243757_T,SAMM50,Missense_Mutation,NM_015380,exon5,c.A329G,p.D110G,SNP,SNVindel,exonic,SAMM50,NA,nonsynonymous SNV,SAMM50:NM_015380:exon5:c.A329G:p.D110G,T,D,P,T,N,T
chrX,23398214,23398214,T,C,P243757_T,PTCHD1,Silent,NM_173495,exon2,c.T858C,p.C286C,SNP,SNVindel,exonic,PTCHD1,NA,synonymous SNV,PTCHD1:NM_173495:exon2:c.T858C:p.C286C,NA,NA,NA,NA,NA,NA
chrX,53279486,53279486,G,A,P243757_T,IQSEC2,Nonsense_Mutation,NM_001111125,exon5,c.C2272T,p.R758X,SNP,SNVindel,exonic,IQSEC2,NA,stopgain,"IQSEC2:NM_001111125:exon5:c.C2272T:p.R758X,IQSEC2:NM_015075:exon5:c.C1657T:p.R553X",.,D,A,.,.,.
chrX,100505498,100505498,C,T,P243757_T,DRP2,Missense_Mutation,NM_001171184,exon13,c.C1393T,p.R465C,SNP,SNVindel,exonic,DRP2,NA,nonsynonymous SNV,"DRP2:NM_001171184:exon13:c.C1393T:p.R465C,DRP2:NM_001939:exon15:c.C1627T:p.R543C",D,D,D,T,D,D
chrX,106841068,106841068,G,A,P243757_T,FRMPD3,Silent,NM_032428,exon15,c.G2058A,p.E686E,SNP,SNVindel,exonic,FRMPD3,NA,synonymous SNV,FRMPD3:NM_032428:exon15:c.G2058A:p.E686E,NA,NA,NA,NA,NA,NA
chrX,112048242,112048242,C,T,P243757_T,AMOT,Missense_Mutation,NM_001113490,exon5,c.G1709A,p.R570Q,SNP,SNVindel,exonic,AMOT,NA,nonsynonymous SNV,"AMOT:NM_001113490:exon5:c.G1709A:p.R570Q,AMOT:NM_133265:exon6:c.G482A:p.R161Q",D,D,D,T,D,T
chrX,125298690,125298690,G,A,P243757_T,DCAF12L2,Silent,NM_001013628,exon1,c.C1218T,p.C406C,SNP,SNVindel,exonic,DCAF12L2,NA,synonymous SNV,DCAF12L2:NM_001013628:exon1:c.C1218T:p.C406C,NA,NA,NA,NA,NA,NA
chrX,142967468,142967468,T,G,P243757_T,UBE2NL,Nonsense_Mutation,NM_001012989,exon1,c.T266G,p.L89X,SNP,SNVindel,exonic,UBE2NL,NA,stopgain,UBE2NL:NM_001012989:exon1:c.T266G:p.L89X,NA,NA,NA,NA,NA,NA
chrX,149013727,149013727,A,G,P243757_T,MAGEA8,Silent,NM_001166401,exon3,c.A681G,p.A227A,SNP,SNVindel,exonic,MAGEA8,NA,synonymous SNV,"MAGEA8:NM_001166401:exon3:c.A681G:p.A227A,MAGEA8:NM_005364:exon3:c.A681G:p.A227A,MAGEA8:NM_001166400:exon4:c.A681G:p.A227A",NA,NA,NA,NA,NA,NA
chrX,152770230,152770230,G,A,P243757_T,BGN,Silent,NM_001711,exon2,c.G141A,p.S47S,SNP,SNVindel,exonic,BGN,NA,synonymous SNV,BGN:NM_001711:exon2:c.G141A:p.S47S,NA,NA,NA,NA,NA,NA
chr1,216373115,216373115,G,A,P247302_F,USH2A,Missense_Mutation,NM_007123,exon17,c.C3665T,p.A1222V,SNP,SNVindel,exonic,USH2A,NA,nonsynonymous SNV,"USH2A:NM_007123:exon17:c.C3665T:p.A1222V,USH2A:NM_206933:exon17:c.C3665T:p.A1222V",T,N,D,T,N,D
chr5,33998823,33998823,G,A,P247302_F,AMACR,Missense_Mutation,NM_001167595,exon4,c.C662T,p.T221M,SNP,SNVindel,exonic,AMACR,NA,nonsynonymous SNV,"AMACR:NM_001167595:exon4:c.C662T:p.T221M,AMACR:NM_014324:exon4:c.C662T:p.T221M",D,N,D,T,N,T
chr11,102646042,102646042,G,A,P247302_F,MMP10,Nonsense_Mutation,NM_002425,exon7,c.C943T,p.R315X,SNP,SNVindel,exonic,MMP10,NA,stopgain,MMP10:NM_002425:exon7:c.C943T:p.R315X,.,D,A,.,.,.
chr12,106461531,106461531,G,A,P247302_F,NUAK1,Silent,NM_014840,exon7,c.C1035T,p.T345T,SNP,SNVindel,exonic,NUAK1,NA,synonymous SNV,NUAK1:NM_014840:exon7:c.C1035T:p.T345T,NA,NA,NA,NA,NA,NA
chr17,80019497,80019497,C,T,P247302_F,DUS1L,Missense_Mutation,NM_022156,exon7,c.G694A,p.A232T,SNP,SNVindel,exonic,DUS1L,NA,nonsynonymous SNV,DUS1L:NM_022156:exon7:c.G694A:p.A232T,D,D,D,T,D,D
chr18,21141454,21141454,T,C,P247302_F,NPC1,Silent,NM_000271,exon5,c.A501G,p.S167S,SNP,SNVindel,exonic,NPC1,NA,synonymous SNV,NPC1:NM_000271:exon5:c.A501G:p.S167S,NA,NA,NA,NA,NA,NA
chr19,48342956,48342956,C,T,P247302_F,CRX,Missense_Mutation,NM_000554,exon4,c.C632T,p.P211L,SNP,SNVindel,exonic,CRX,NA,nonsynonymous SNV,CRX:NM_000554:exon4:c.C632T:p.P211L,T,D,D,D,D,T
chrX,134947910,134947910,G,A,P247302_F,CT45A10,Nonsense_Mutation,NM_001291527,exon3,c.C415T,p.R139X,SNP,SNVindel,exonic,CT45A10,NA,stopgain,"CT45A10:NM_001291527:exon3:c.C415T:p.R139X,CT45A10:NM_001291528:exon3:c.C415T:p.R139X,CT45A10:NM_001291529:exon3:c.C415T:p.R139X,CT45A10:NM_001291530:exon3:c.C415T:p.R139X",.,U,N,.,.,.
chr1,204587181,204587181,G,A,P247302_F,LRRN2,Missense_Mutation,NM_201630,exon2,c.C1940T,p.A647V,SNP,SNVindel,exonic,LRRN2,NA,nonsynonymous SNV,"LRRN2:NM_201630:exon2:c.C1940T:p.A647V,LRRN2:NM_006338:exon3:c.C1940T:p.A647V",T,N,N,T,N,T
chr2,241679505,241679505,G,A,P247302_F,KIF1A,Missense_Mutation,NM_004321,exon35,c.C3568T,p.R1190C,SNP,SNVindel,exonic,KIF1A,NA,nonsynonymous SNV,"KIF1A:NM_004321:exon35:c.C3568T:p.R1190C,KIF1A:NM_001320705:exon36:c.C3595T:p.R1199C,KIF1A:NM_001330289:exon36:c.C3595T:p.R1199C,KIF1A:NM_001330290:exon36:c.C3670T:p.R1224C,KIF1A:NM_001244008:exon37:c.C3871T:p.R1291C",D,U,D,T,D,T
chr7,119915394,119915394,C,T,P247302_F,KCND2,Silent,NM_012281,exon1,c.C708T,p.C236C,SNP,SNVindel,exonic,KCND2,NA,synonymous SNV,KCND2:NM_012281:exon1:c.C708T:p.C236C,NA,NA,NA,NA,NA,NA
chr11,78369538,78369538,T,C,P247302_F,TENM4,Silent,NM_001098816,exon34,c.A7875G,p.S2625S,SNP,SNVindel,exonic,TENM4,NA,synonymous SNV,TENM4:NM_001098816:exon34:c.A7875G:p.S2625S,NA,NA,NA,NA,NA,NA
chr2,179480434,179480434,G,A,P247302_F,TTN,Missense_Mutation,NM_003319,exon86,c.C21199T,p.R7067C,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon86:c.C21199T:p.R7067C,TTN:NM_133432:exon87:c.C21574T:p.R7192C,TTN:NM_133437:exon87:c.C21775T:p.R7259C,TTN:NM_133378:exon207:c.C40690T:p.R13564C,TTN:NM_001256850:exon208:c.C43471T:p.R14491C,TTN:NM_001267550:exon258:c.C48394T:p.R16132C",T,.,D,T,N,T
chr16,1034771,1034771,G,A,P247302_F,SOX8,Silent,NM_014587,exon3,c.G726A,p.P242P,SNP,SNVindel,exonic,SOX8,NA,synonymous SNV,SOX8:NM_014587:exon3:c.G726A:p.P242P,NA,NA,NA,NA,NA,NA
chr16,20492206,20492206,C,T,P247302_F,ACSM2A,Missense_Mutation,NM_001308169,exon11,c.C1235T,p.T412M,SNP,SNVindel,exonic,ACSM2A,NA,nonsynonymous SNV,"ACSM2A:NM_001308169:exon11:c.C1235T:p.T412M,ACSM2A:NM_001308172:exon12:c.C1472T:p.T491M,ACSM2A:NM_001308954:exon13:c.C1472T:p.T491M",D,N,N,T,D,T
chr2,27455023,27455023,C,T,P247302_F,CAD,Missense_Mutation,NM_001306079,exon16,c.C2387T,p.P796L,SNP,SNVindel,exonic,CAD,NA,nonsynonymous SNV,"CAD:NM_001306079:exon16:c.C2387T:p.P796L,CAD:NM_004341:exon17:c.C2576T:p.P859L",D,D,D,D,D,D
chr20,23065343,23065343,C,T,P247302_F,CD93,Missense_Mutation,NM_012072,exon1,c.G1487A,p.R496H,SNP,SNVindel,exonic,CD93,NA,nonsynonymous SNV,CD93:NM_012072:exon1:c.G1487A:p.R496H,T,N,N,T,N,T
chr5,43505976,43505976,G,A,P247302_F,C5orf34,Missense_Mutation,NM_198566,exon4,c.C806T,p.S269F,SNP,SNVindel,exonic,C5orf34,NA,nonsynonymous SNV,C5orf34:NM_198566:exon4:c.C806T:p.S269F,D,N,N,T,N,T
chr10,16975121,16975121,C,T,P247302_F,CUBN,Missense_Mutation,NM_001081,exon40,c.G6089A,p.R2030Q,SNP,SNVindel,exonic,CUBN,NA,nonsynonymous SNV,CUBN:NM_001081:exon40:c.G6089A:p.R2030Q,T,N,N,T,N,T
chr5,33963850,33963850,G,A,P247302_F,SLC45A2,Silent,NM_001012509,exon3,c.C834T,p.Y278Y,SNP,SNVindel,exonic,SLC45A2,NA,synonymous SNV,"SLC45A2:NM_001012509:exon3:c.C834T:p.Y278Y,SLC45A2:NM_016180:exon3:c.C834T:p.Y278Y",NA,NA,NA,NA,NA,NA
chr1,113057615,113057615,G,A,P247302_F,WNT2B,Missense_Mutation,NM_001291880,exon2,c.G26A,p.R9Q,SNP,SNVindel,exonic,WNT2B,NA,nonsynonymous SNV,"WNT2B:NM_001291880:exon2:c.G26A:p.R9Q,WNT2B:NM_024494:exon2:c.G302A:p.R101Q,WNT2B:NM_004185:exon3:c.G245A:p.R82Q",T,D,D,T,N,T
chr8,145739024,145739024,C,T,P247302_F,RECQL4,Missense_Mutation,NM_004260,exon13,c.G2131A,p.E711K,SNP,SNVindel,exonic,RECQL4,NA,nonsynonymous SNV,RECQL4:NM_004260:exon13:c.G2131A:p.E711K,.,.,.,.,.,.
chr11,62289273,62289273,G,A,P247302_F,AHNAK,Missense_Mutation,NM_001346445,exon5,c.C12616T,p.P4206S,SNP,SNVindel,exonic,AHNAK,NA,nonsynonymous SNV,"AHNAK:NM_001346445:exon5:c.C12616T:p.P4206S,AHNAK:NM_001346446:exon5:c.C12616T:p.P4206S,AHNAK:NM_001620:exon5:c.C12616T:p.P4206S",T,D,D,T,D,T
chr8,27824045,27824045,G,A,P247302_F,SCARA5,Missense_Mutation,NM_173833,exon3,c.C127T,p.R43W,SNP,SNVindel,exonic,SCARA5,NA,nonsynonymous SNV,SCARA5:NM_173833:exon3:c.C127T:p.R43W,D,D,D,D,D,D
chr17,79650844,79650844,G,T,P247302_F,ARL16,Silent,NM_001040025,exon1,c.C12A,p.A4A,SNP,SNVindel,exonic,ARL16,NA,synonymous SNV,ARL16:NM_001040025:exon1:c.C12A:p.A4A,NA,NA,NA,NA,NA,NA
chr19,49938460,49938460,T,C,P247302_F,SLC17A7,Silent,NM_020309,exon3,c.A399G,p.P133P,SNP,SNVindel,exonic,SLC17A7,NA,synonymous SNV,SLC17A7:NM_020309:exon3:c.A399G:p.P133P,NA,NA,NA,NA,NA,NA
chr3,39228905,39228905,G,A,P247302_F,XIRP1,Missense_Mutation,NM_001198621,exon2,c.C2032T,p.R678W,SNP,SNVindel,exonic,XIRP1,NA,nonsynonymous SNV,"XIRP1:NM_001198621:exon2:c.C2032T:p.R678W,XIRP1:NM_194293:exon2:c.C2032T:p.R678W",D,N,N,T,D,T
chr11,64883976,64883976,G,A,P247302_F,ZNHIT2,Missense_Mutation,NM_014205,exon1,c.C1150T,p.R384W,SNP,SNVindel,exonic,ZNHIT2,NA,nonsynonymous SNV,ZNHIT2:NM_014205:exon1:c.C1150T:p.R384W,D,U,N,T,N,T
chr17,51901651,51901651,C,T,P247302_F,KIF2B,Silent,NM_032559,exon1,c.C1257T,p.N419N,SNP,SNVindel,exonic,KIF2B,NA,synonymous SNV,KIF2B:NM_032559:exon1:c.C1257T:p.N419N,NA,NA,NA,NA,NA,NA
chr2,234669619,234669619,C,A,P247302_F,UGT1A1,Missense_Mutation,NM_000463,exon1,c.C686A,p.P229Q,SNP,SNVindel,exonic,UGT1A1,NA,nonsynonymous SNV,UGT1A1:NM_000463:exon1:c.C686A:p.P229Q,T,.,N,T,N,T
chr6,167570961,167570961,C,T,P247302_F,GPR31,Missense_Mutation,NM_005299,exon1,c.G359A,p.R120Q,SNP,SNVindel,exonic,GPR31,NA,nonsynonymous SNV,GPR31:NM_005299:exon1:c.G359A:p.R120Q,T,U,N,T,N,T
chr16,4165069,4165069,G,A,P247302_F,ADCY9,Silent,NM_001116,exon2,c.C375T,p.F125F,SNP,SNVindel,exonic,ADCY9,NA,synonymous SNV,ADCY9:NM_001116:exon2:c.C375T:p.F125F,NA,NA,NA,NA,NA,NA
chr2,88484958,88484958,G,A,P247302_F,THNSL2,Missense_Mutation,NM_018271,exon7,c.G1189A,p.V397M,SNP,SNVindel,exonic,THNSL2,NA,nonsynonymous SNV,THNSL2:NM_018271:exon7:c.G1189A:p.V397M,D,D,D,D,N,D
chr6,35715085,35715085,G,A,P247302_F,ARMC12,Silent,NM_001286574,exon4,c.G492A,p.T164T,SNP,SNVindel,exonic,ARMC12,NA,synonymous SNV,"ARMC12:NM_001286574:exon4:c.G492A:p.T164T,ARMC12:NM_001286576:exon4:c.G492A:p.T164T,ARMC12:NM_145028:exon4:c.G573A:p.T191T",NA,NA,NA,NA,NA,NA
chr3,11372894,11372894,C,T,P247302_F,ATG7,Silent,NM_001144912,exon7,c.C642T,p.A214A,SNP,SNVindel,exonic,ATG7,NA,synonymous SNV,"ATG7:NM_001144912:exon7:c.C642T:p.A214A,ATG7:NM_001349236:exon7:c.C642T:p.A214A,ATG7:NM_001136031:exon8:c.C759T:p.A253A,ATG7:NM_001349237:exon8:c.C759T:p.A253A,ATG7:NM_006395:exon8:c.C759T:p.A253A,ATG7:NM_001349233:exon9:c.C759T:p.A253A,ATG7:NM_001349234:exon9:c.C759T:p.A253A,ATG7:NM_001349235:exon9:c.C759T:p.A253A,ATG7:NM_001349232:exon10:c.C759T:p.A253A",NA,NA,NA,NA,NA,NA
chr3,121340509,121340509,G,A,P247302_F,FBXO40,Missense_Mutation,NM_016298,exon3,c.G233A,p.R78H,SNP,SNVindel,exonic,FBXO40,NA,nonsynonymous SNV,FBXO40:NM_016298:exon3:c.G233A:p.R78H,D,D,D,T,D,T
chr17,64026031,64026031,T,A,P247302_F,CEP112,Missense_Mutation,NM_001302891,exon11,c.A1203T,p.R401S,SNP,SNVindel,exonic,CEP112,NA,nonsynonymous SNV,"CEP112:NM_001302891:exon11:c.A1203T:p.R401S,CEP112:NM_001353128:exon11:c.A1203T:p.R401S,CEP112:NM_001199165:exon13:c.A1329T:p.R443S,CEP112:NM_001353127:exon13:c.A1329T:p.R443S,CEP112:NM_001353129:exon13:c.A1332T:p.R444S",D,D,N,T,N,T
chr2,210570306,210570306,C,T,P247302_F,MAP2,Silent,NM_001363913,exon8,c.C519T,p.D173D,SNP,SNVindel,exonic,MAP2,NA,synonymous SNV,"MAP2:NM_001363913:exon8:c.C519T:p.D173D,MAP2:NM_031845:exon8:c.C519T:p.D173D,MAP2:NM_031847:exon8:c.C519T:p.D173D,MAP2:NM_001039538:exon10:c.C690T:p.D230D,MAP2:NM_001363911:exon11:c.C4575T:p.D1525D,MAP2:NM_002374:exon11:c.C4587T:p.D1529D,MAP2:NM_001363910:exon12:c.C4575T:p.D1525D",NA,NA,NA,NA,NA,NA
chr3,195513605,195513605,G,A,P247302_F,MUC4,Missense_Mutation,NM_018406,exon2,c.C4846T,p.P1616S,SNP,SNVindel,exonic,MUC4,NA,nonsynonymous SNV,MUC4:NM_018406:exon2:c.C4846T:p.P1616S,D,.,N,T,N,T
chr19,9325078,9325078,G,A,P247302_F,OR7D4,Silent,NM_001005191,exon1,c.C436T,p.L146L,SNP,SNVindel,exonic,OR7D4,NA,synonymous SNV,OR7D4:NM_001005191:exon1:c.C436T:p.L146L,NA,NA,NA,NA,NA,NA
chrX,91873533,91873533,C,T,P247302_F,PCDH11X,Missense_Mutation,NM_001168362,exon5,c.C3527T,p.P1176L,SNP,SNVindel,exonic,PCDH11X,NA,nonsynonymous SNV,"PCDH11X:NM_001168362:exon5:c.C3527T:p.P1176L,PCDH11X:NM_001168363:exon5:c.C3584T:p.P1195L,PCDH11X:NM_001168360:exon6:c.C3614T:p.P1205L,PCDH11X:NM_032969:exon6:c.C3608T:p.P1203L,PCDH11X:NM_032968:exon7:c.C3638T:p.P1213L",D,.,N,T,N,T
chr7,100679800,100679800,G,A,P247302_F,MUC17,Silent,NM_001040105,exon3,c.G5103A,p.P1701P,SNP,SNVindel,exonic,MUC17,NA,synonymous SNV,MUC17:NM_001040105:exon3:c.G5103A:p.P1701P,NA,NA,NA,NA,NA,NA
chr10,64974548,64974548,A,G,P247302_F,JMJD1C,Missense_Mutation,NM_001322254,exon6,c.T722C,p.M241T,SNP,SNVindel,exonic,JMJD1C,NA,nonsynonymous SNV,"JMJD1C:NM_001322254:exon6:c.T722C:p.M241T,JMJD1C:NM_001282948:exon7:c.T833C:p.M278T,JMJD1C:NM_001318153:exon7:c.T515C:p.M172T,JMJD1C:NM_001322252:exon7:c.T1265C:p.M422T,JMJD1C:NM_001322258:exon7:c.T722C:p.M241T,JMJD1C:NM_001318154:exon8:c.T833C:p.M278T,JMJD1C:NM_032776:exon8:c.T1379C:p.M460T",T,N,N,T,N,T
chr2,210860289,210860289,G,A,P247302_F,UNC80,Silent,NM_182587,exon63,c.G9675A,p.T3225T,SNP,SNVindel,exonic,UNC80,NA,synonymous SNV,"UNC80:NM_182587:exon63:c.G9675A:p.T3225T,UNC80:NM_032504:exon64:c.G9747A:p.T3249T",NA,NA,NA,NA,NA,NA
chr11,118516453,118516453,C,T,P247302_F,PHLDB1,Silent,NM_001144759,exon16,c.C3276T,p.S1092S,SNP,SNVindel,exonic,PHLDB1,NA,synonymous SNV,"PHLDB1:NM_001144759:exon16:c.C3276T:p.S1092S,PHLDB1:NM_001144758:exon17:c.C3417T:p.S1139S,PHLDB1:NM_015157:exon18:c.C3417T:p.S1139S",NA,NA,NA,NA,NA,NA
chr1,1571841,1571841,A,C,P247302_F,CDK11B,Missense_Mutation,NM_033487,exon16,c.T1152G,p.D384E,SNP,SNVindel,exonic,CDK11B,NA,nonsynonymous SNV,"CDK11B:NM_033487:exon16:c.T1152G:p.D384E,CDK11B:NM_033490:exon17:c.T1269G:p.D423E,CDK11B:NM_001291345:exon19:c.T1884G:p.D628E,CDK11B:NM_001787:exon19:c.T1953G:p.D651E,CDK11B:NM_033486:exon19:c.T1914G:p.D638E,CDK11B:NM_033489:exon20:c.T1812G:p.D604E",.,.,D,.,.,.
chr1,45500055,45500055,C,T,P247302_F,ZSWIM5,Missense_Mutation,NM_020883,exon11,c.G2378A,p.R793H,SNP,SNVindel,exonic,ZSWIM5,NA,nonsynonymous SNV,ZSWIM5:NM_020883:exon11:c.G2378A:p.R793H,D,D,D,T,D,T
chr1,47399670,47399670,G,T,P247302_F,CYP4A11,Silent,NM_001363587,exon7,c.C876A,p.G292G,SNP,SNVindel,exonic,CYP4A11,NA,synonymous SNV,"CYP4A11:NM_001363587:exon7:c.C876A:p.G292G,CYP4A11:NM_000778:exon9:c.C1170A:p.G390G,CYP4A11:NM_001319155:exon9:c.C1074A:p.G358G",NA,NA,NA,NA,NA,NA
chr1,225428475,225428475,C,T,P247302_F,DNAH14,Silent,NM_001367479,exon43,c.C6699T,p.Y2233Y,SNP,SNVindel,exonic,DNAH14,NA,synonymous SNV,DNAH14:NM_001367479:exon43:c.C6699T:p.Y2233Y,NA,NA,NA,NA,NA,NA
chr1,248112554,248112554,T,C,P247302_F,OR2L8,Missense_Mutation,NM_001001963,exon1,c.T395C,p.L132P,SNP,SNVindel,exonic,OR2L8,NA,nonsynonymous SNV,OR2L8:NM_001001963:exon1:c.T395C:p.L132P,T,N,N,T,N,T
chr2,58392929,58392929,G,A,P247302_F,FANCL,Silent,NM_001114636,exon8,c.C636T,p.I212I,SNP,SNVindel,exonic,FANCL,NA,synonymous SNV,"FANCL:NM_001114636:exon8:c.C636T:p.I212I,FANCL:NM_018062:exon8:c.C621T:p.I207I",NA,NA,NA,NA,NA,NA
chr2,98916675,98916675,G,A,P247302_F,VWA3B,Missense_Mutation,NM_001345864,exon19,c.G2387A,p.R796Q,SNP,SNVindel,exonic,VWA3B,NA,nonsynonymous SNV,"VWA3B:NM_001345864:exon19:c.G2387A:p.R796Q,VWA3B:NM_144992:exon25:c.G3416A:p.R1139Q",D,U,D,T,N,T
chr2,132914629,132914629,C,A,P247302_F,ANKRD30BL,Missense_Mutation,NM_001358416,exon3,c.G424T,p.V142F,SNP,SNVindel,exonic,ANKRD30BL,NA,nonsynonymous SNV,ANKRD30BL:NM_001358416:exon3:c.G424T:p.V142F,D,.,N,T,N,T
chr3,27758893,27758893,C,T,P247302_F,EOMES,Missense_Mutation,NM_001278182,exon6,c.G1786A,p.G596S,SNP,SNVindel,exonic,EOMES,NA,nonsynonymous SNV,"EOMES:NM_001278182:exon6:c.G1786A:p.G596S,EOMES:NM_001278183:exon6:c.G901A:p.G301S,EOMES:NM_005442:exon6:c.G1729A:p.G577S",T,N,D,D,N,T
chr3,44636460,44636460,C,T,P247302_F,ZNF660,Nonsense_Mutation,NM_173658,exon3,c.C775T,p.R259X,SNP,SNVindel,exonic,ZNF660,NA,stopgain,ZNF660:NM_173658:exon3:c.C775T:p.R259X,.,.,D,.,.,.
chr3,155314068,155314068,C,T,P247302_F,PLCH1,Missense_Mutation,NM_001130960,exon2,c.G143A,p.R48Q,SNP,SNVindel,exonic,PLCH1,NA,nonsynonymous SNV,"PLCH1:NM_001130960:exon2:c.G143A:p.R48Q,PLCH1:NM_001130961:exon2:c.G143A:p.R48Q,PLCH1:NM_001349250:exon2:c.G143A:p.R48Q,PLCH1:NM_014996:exon2:c.G179A:p.R60Q,PLCH1:NM_001349251:exon3:c.G179A:p.R60Q,PLCH1:NM_001349252:exon3:c.G179A:p.R60Q",T,N,D,T,N,T
chr4,44177123,44177123,G,A,P247302_F,KCTD8,Missense_Mutation,NM_198353,exon2,c.C1106T,p.P369L,SNP,SNVindel,exonic,KCTD8,NA,nonsynonymous SNV,KCTD8:NM_198353:exon2:c.C1106T:p.P369L,D,D,D,T,N,T
chr4,87653801,87653801,C,T,P247302_F,PTPN13,Silent,NM_006264,exon12,c.C1740T,p.N580N,SNP,SNVindel,exonic,PTPN13,NA,synonymous SNV,"PTPN13:NM_006264:exon12:c.C1740T:p.N580N,PTPN13:NM_080683:exon12:c.C1740T:p.N580N,PTPN13:NM_080684:exon12:c.C1740T:p.N580N,PTPN13:NM_080685:exon12:c.C1740T:p.N580N",NA,NA,NA,NA,NA,NA
chr4,175649778,175649778,G,A,P247302_F,GLRA3,Silent,NM_001042543,exon4,c.C339T,p.D113D,SNP,SNVindel,exonic,GLRA3,NA,synonymous SNV,"GLRA3:NM_001042543:exon4:c.C339T:p.D113D,GLRA3:NM_006529:exon4:c.C339T:p.D113D",NA,NA,NA,NA,NA,NA
chr5,67589188,67589188,C,T,P247302_F,PIK3R1,Silent,NM_001242466,exon3,c.C87T,p.F29F,SNP,SNVindel,exonic,PIK3R1,NA,synonymous SNV,"PIK3R1:NM_001242466:exon3:c.C87T:p.F29F,PIK3R1:NM_181504:exon4:c.C366T:p.F122F,PIK3R1:NM_181524:exon4:c.C276T:p.F92F,PIK3R1:NM_181523:exon10:c.C1176T:p.F392F",NA,NA,NA,NA,NA,NA
chr8,52370154,52370154,T,C,P247302_F,PXDNL,Missense_Mutation,NM_144651,exon9,c.A886G,p.R296G,SNP,SNVindel,exonic,PXDNL,NA,nonsynonymous SNV,PXDNL:NM_144651:exon9:c.A886G:p.R296G,T,.,N,T,N,T
chr8,105502936,105502936,C,T,P247302_F,LRP12,Missense_Mutation,NM_001135703,exon6,c.G2488A,p.E830K,SNP,SNVindel,exonic,LRP12,NA,nonsynonymous SNV,"LRP12:NM_001135703:exon6:c.G2488A:p.E830K,LRP12:NM_013437:exon7:c.G2545A:p.E849K",D,D,D,D,N,D
chr9,34725112,34725112,C,T,P247302_F,FAM205A,Missense_Mutation,NM_001141917,exon4,c.G2125A,p.A709T,SNP,SNVindel,exonic,FAM205A,NA,nonsynonymous SNV,FAM205A:NM_001141917:exon4:c.G2125A:p.A709T,D,.,N,T,N,T
chr9,43822668,43822668,C,T,P247302_F,CNTNAP3B,Missense_Mutation,NM_001201380,exon8,c.C1222T,p.L408F,SNP,SNVindel,exonic,CNTNAP3B,NA,nonsynonymous SNV,CNTNAP3B:NM_001201380:exon8:c.C1222T:p.L408F,NA,NA,NA,NA,NA,NA
chr9,43822686,43822686,C,A,P247302_F,CNTNAP3B,Missense_Mutation,NM_001201380,exon8,c.C1240A,p.R414S,SNP,SNVindel,exonic,CNTNAP3B,NA,nonsynonymous SNV,CNTNAP3B:NM_001201380:exon8:c.C1240A:p.R414S,NA,NA,NA,NA,NA,NA
chr9,43822704,43822704,G,A,P247302_F,CNTNAP3B,Missense_Mutation,NM_001201380,exon8,c.G1258A,p.V420I,SNP,SNVindel,exonic,CNTNAP3B,NA,nonsynonymous SNV,CNTNAP3B:NM_001201380:exon8:c.G1258A:p.V420I,NA,NA,NA,NA,NA,NA
chr10,117849334,117849334,C,T,P247302_F,GFRA1,Missense_Mutation,NM_001348099,exon5,c.G752A,p.R251Q,SNP,SNVindel,exonic,GFRA1,NA,nonsynonymous SNV,"GFRA1:NM_001348099:exon5:c.G752A:p.R251Q,GFRA1:NM_145793:exon7:c.G1100A:p.R367Q,GFRA1:NM_001145453:exon8:c.G1100A:p.R367Q,GFRA1:NM_001348096:exon8:c.G1100A:p.R367Q,GFRA1:NM_001348098:exon9:c.G1115A:p.R372Q,GFRA1:NM_005264:exon9:c.G1115A:p.R372Q",D,D,D,T,N,T
chr12,6705193,6705193,T,C,P247302_F,CHD4,Missense_Mutation,NM_001297553,exon12,c.A1982G,p.K661R,SNP,SNVindel,exonic,CHD4,NA,nonsynonymous SNV,"CHD4:NM_001297553:exon12:c.A1982G:p.K661R,CHD4:NM_001273:exon13:c.A2003G:p.K668R,CHD4:NM_001363606:exon13:c.A1964G:p.K655R",T,D,D,T,N,T
chr12,54793512,54793512,G,A,P247302_F,ITGA5,Missense_Mutation,NM_002205,exon27,c.C2758T,p.R920C,SNP,SNVindel,exonic,ITGA5,NA,nonsynonymous SNV,ITGA5:NM_002205:exon27:c.C2758T:p.R920C,T,N,D,T,N,T
chr12,132624677,132624677,C,T,P247302_F,DDX51,Missense_Mutation,NM_175066,exon12,c.G1741A,p.D581N,SNP,SNVindel,exonic,DDX51,NA,nonsynonymous SNV,DDX51:NM_175066:exon12:c.G1741A:p.D581N,D,D,D,T,D,T
chr13,43181003,43181003,G,A,P247302_F,TNFSF11,Silent,NM_003701,exon5,c.G903A,p.P301P,SNP,SNVindel,exonic,TNFSF11,NA,synonymous SNV,"TNFSF11:NM_003701:exon5:c.G903A:p.P301P,TNFSF11:NM_033012:exon7:c.G684A:p.P228P",NA,NA,NA,NA,NA,NA
chr14,24729695,24729695,G,A,P247302_F,TGM1,Missense_Mutation,NM_000359,exon4,c.C718T,p.R240C,SNP,SNVindel,exonic,TGM1,NA,nonsynonymous SNV,TGM1:NM_000359:exon4:c.C718T:p.R240C,D,N,N,D,N,T
chr14,39561816,39561816,C,A,P247302_F,SEC23A,Missense_Mutation,NM_006364,exon4,c.G295T,p.A99S,SNP,SNVindel,exonic,SEC23A,NA,nonsynonymous SNV,SEC23A:NM_006364:exon4:c.G295T:p.A99S,T,D,D,D,N,T
chr17,48940627,48940627,G,A,P247302_F,TOB1,Missense_Mutation,NM_001243885,exon2,c.C335T,p.P112L,SNP,SNVindel,exonic,TOB1,NA,nonsynonymous SNV,"TOB1:NM_001243885:exon2:c.C335T:p.P112L,TOB1:NM_005749:exon2:c.C752T:p.P251L,TOB1:NM_001243877:exon3:c.C752T:p.P251L",T,N,N,T,N,T
chr18,28736074,28736074,G,A,P247302_F,DSC1,Nonsense_Mutation,NM_004948,exon4,c.C403T,p.R135X,SNP,SNVindel,exonic,DSC1,NA,stopgain,"DSC1:NM_004948:exon4:c.C403T:p.R135X,DSC1:NM_024421:exon4:c.C403T:p.R135X",.,N,A,.,.,.
chr19,35173717,35173717,T,A,P247302_F,ZNF302,Missense_Mutation,NM_001012320,exon3,c.T45A,p.H15Q,SNP,SNVindel,exonic,ZNF302,NA,nonsynonymous SNV,"ZNF302:NM_001012320:exon3:c.T45A:p.H15Q,ZNF302:NM_001289182:exon3:c.T45A:p.H15Q,ZNF302:NM_001289183:exon3:c.T45A:p.H15Q,ZNF302:NM_001289184:exon3:c.T45A:p.H15Q,ZNF302:NM_001289185:exon3:c.T45A:p.H15Q,ZNF302:NM_001289186:exon3:c.T45A:p.H15Q,ZNF302:NM_001289187:exon3:c.T45A:p.H15Q,ZNF302:NM_001289188:exon3:c.T45A:p.H15Q,ZNF302:NM_001289189:exon3:c.T45A:p.H15Q,ZNF302:NM_001289190:exon3:c.T45A:p.H15Q,ZNF302:NM_001289191:exon3:c.T45A:p.H15Q,ZNF302:NM_001289192:exon3:c.T45A:p.H15Q,ZNF302:NM_018443:exon3:c.T45A:p.H15Q,ZNF302:NM_018675:exon3:c.T45A:p.H15Q,ZNF302:NM_001289181:exon4:c.T177A:p.H59Q",T,.,N,T,N,T
chr20,57767851,57767851,C,T,P247302_F,ZNF831,Missense_Mutation,NM_178457,exon1,c.C1777T,p.R593W,SNP,SNVindel,exonic,ZNF831,NA,nonsynonymous SNV,ZNF831:NM_178457:exon1:c.C1777T:p.R593W,D,.,N,T,N,T
chrX,23018432,23018432,C,T,P247302_F,DDX53,Silent,NM_182699,exon1,c.C258T,p.N86N,SNP,SNVindel,exonic,DDX53,NA,synonymous SNV,DDX53:NM_182699:exon1:c.C258T:p.N86N,NA,NA,NA,NA,NA,NA
chr1,216373115,216373115,G,A,P247302_S,USH2A,Missense_Mutation,NM_007123,exon17,c.C3665T,p.A1222V,SNP,SNVindel,exonic,USH2A,NA,nonsynonymous SNV,"USH2A:NM_007123:exon17:c.C3665T:p.A1222V,USH2A:NM_206933:exon17:c.C3665T:p.A1222V",T,N,D,T,N,D
chr2,74750592,74750592,C,T,P247302_S,DQX1,Missense_Mutation,NM_133637,exon5,c.G889A,p.V297I,SNP,SNVindel,exonic,DQX1,NA,nonsynonymous SNV,DQX1:NM_133637:exon5:c.G889A:p.V297I,T,N,N,T,N,T
chr5,33998823,33998823,G,A,P247302_S,AMACR,Missense_Mutation,NM_001167595,exon4,c.C662T,p.T221M,SNP,SNVindel,exonic,AMACR,NA,nonsynonymous SNV,"AMACR:NM_001167595:exon4:c.C662T:p.T221M,AMACR:NM_014324:exon4:c.C662T:p.T221M",D,N,D,T,N,T
chr7,142650950,142650950,C,T,P247302_S,KEL,Missense_Mutation,NM_000420,exon9,c.G1018A,p.V340M,SNP,SNVindel,exonic,KEL,NA,nonsynonymous SNV,KEL:NM_000420:exon9:c.G1018A:p.V340M,T,N,N,T,N,T
chr12,105601945,105601945,C,T,P247302_S,APPL2,Missense_Mutation,NM_001251904,exon6,c.G406A,p.A136T,SNP,SNVindel,exonic,APPL2,NA,nonsynonymous SNV,"APPL2:NM_001251904:exon6:c.G406A:p.A136T,APPL2:NM_001251905:exon6:c.G277A:p.A93T,APPL2:NM_018171:exon6:c.G406A:p.A136T",T,N,D,T,N,T
chr12,106461531,106461531,G,A,P247302_S,NUAK1,Silent,NM_014840,exon7,c.C1035T,p.T345T,SNP,SNVindel,exonic,NUAK1,NA,synonymous SNV,NUAK1:NM_014840:exon7:c.C1035T:p.T345T,NA,NA,NA,NA,NA,NA
chr17,80019497,80019497,C,T,P247302_S,DUS1L,Missense_Mutation,NM_022156,exon7,c.G694A,p.A232T,SNP,SNVindel,exonic,DUS1L,NA,nonsynonymous SNV,DUS1L:NM_022156:exon7:c.G694A:p.A232T,D,D,D,T,D,D
chr18,21141454,21141454,T,C,P247302_S,NPC1,Silent,NM_000271,exon5,c.A501G,p.S167S,SNP,SNVindel,exonic,NPC1,NA,synonymous SNV,NPC1:NM_000271:exon5:c.A501G:p.S167S,NA,NA,NA,NA,NA,NA
chr19,48342956,48342956,C,T,P247302_S,CRX,Missense_Mutation,NM_000554,exon4,c.C632T,p.P211L,SNP,SNVindel,exonic,CRX,NA,nonsynonymous SNV,CRX:NM_000554:exon4:c.C632T:p.P211L,T,D,D,D,D,T
chrX,134947910,134947910,G,A,P247302_S,CT45A10,Nonsense_Mutation,NM_001291527,exon3,c.C415T,p.R139X,SNP,SNVindel,exonic,CT45A10,NA,stopgain,"CT45A10:NM_001291527:exon3:c.C415T:p.R139X,CT45A10:NM_001291528:exon3:c.C415T:p.R139X,CT45A10:NM_001291529:exon3:c.C415T:p.R139X,CT45A10:NM_001291530:exon3:c.C415T:p.R139X",.,U,N,.,.,.
chr1,204587181,204587181,G,A,P247302_S,LRRN2,Missense_Mutation,NM_201630,exon2,c.C1940T,p.A647V,SNP,SNVindel,exonic,LRRN2,NA,nonsynonymous SNV,"LRRN2:NM_201630:exon2:c.C1940T:p.A647V,LRRN2:NM_006338:exon3:c.C1940T:p.A647V",T,N,N,T,N,T
chr2,241679505,241679505,G,A,P247302_S,KIF1A,Missense_Mutation,NM_004321,exon35,c.C3568T,p.R1190C,SNP,SNVindel,exonic,KIF1A,NA,nonsynonymous SNV,"KIF1A:NM_004321:exon35:c.C3568T:p.R1190C,KIF1A:NM_001320705:exon36:c.C3595T:p.R1199C,KIF1A:NM_001330289:exon36:c.C3595T:p.R1199C,KIF1A:NM_001330290:exon36:c.C3670T:p.R1224C,KIF1A:NM_001244008:exon37:c.C3871T:p.R1291C",D,U,D,T,D,T
chr7,119915394,119915394,C,T,P247302_S,KCND2,Silent,NM_012281,exon1,c.C708T,p.C236C,SNP,SNVindel,exonic,KCND2,NA,synonymous SNV,KCND2:NM_012281:exon1:c.C708T:p.C236C,NA,NA,NA,NA,NA,NA
chr11,78369538,78369538,T,C,P247302_S,TENM4,Silent,NM_001098816,exon34,c.A7875G,p.S2625S,SNP,SNVindel,exonic,TENM4,NA,synonymous SNV,TENM4:NM_001098816:exon34:c.A7875G:p.S2625S,NA,NA,NA,NA,NA,NA
chr2,179480434,179480434,G,A,P247302_S,TTN,Missense_Mutation,NM_003319,exon86,c.C21199T,p.R7067C,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon86:c.C21199T:p.R7067C,TTN:NM_133432:exon87:c.C21574T:p.R7192C,TTN:NM_133437:exon87:c.C21775T:p.R7259C,TTN:NM_133378:exon207:c.C40690T:p.R13564C,TTN:NM_001256850:exon208:c.C43471T:p.R14491C,TTN:NM_001267550:exon258:c.C48394T:p.R16132C",T,.,D,T,N,T
chr16,1034771,1034771,G,A,P247302_S,SOX8,Silent,NM_014587,exon3,c.G726A,p.P242P,SNP,SNVindel,exonic,SOX8,NA,synonymous SNV,SOX8:NM_014587:exon3:c.G726A:p.P242P,NA,NA,NA,NA,NA,NA
chr16,20492206,20492206,C,T,P247302_S,ACSM2A,Missense_Mutation,NM_001308169,exon11,c.C1235T,p.T412M,SNP,SNVindel,exonic,ACSM2A,NA,nonsynonymous SNV,"ACSM2A:NM_001308169:exon11:c.C1235T:p.T412M,ACSM2A:NM_001308172:exon12:c.C1472T:p.T491M,ACSM2A:NM_001308954:exon13:c.C1472T:p.T491M",D,N,N,T,D,T
chr20,60895885,60895885,G,A,P247302_S,LAMA5,Silent,NM_005560,exon49,c.C6558T,p.P2186P,SNP,SNVindel,exonic,LAMA5,NA,synonymous SNV,LAMA5:NM_005560:exon49:c.C6558T:p.P2186P,NA,NA,NA,NA,NA,NA
chr1,26075787,26075787,C,T,P247302_S,MAN1C1,Silent,NM_001289010,exon4,c.C795T,p.I265I,SNP,SNVindel,exonic,MAN1C1,NA,synonymous SNV,"MAN1C1:NM_001289010:exon4:c.C795T:p.I265I,MAN1C1:NM_020379:exon4:c.C795T:p.I265I",NA,NA,NA,NA,NA,NA
chr2,27455023,27455023,C,T,P247302_S,CAD,Missense_Mutation,NM_001306079,exon16,c.C2387T,p.P796L,SNP,SNVindel,exonic,CAD,NA,nonsynonymous SNV,"CAD:NM_001306079:exon16:c.C2387T:p.P796L,CAD:NM_004341:exon17:c.C2576T:p.P859L",D,D,D,D,D,D
chr20,23065343,23065343,C,T,P247302_S,CD93,Missense_Mutation,NM_012072,exon1,c.G1487A,p.R496H,SNP,SNVindel,exonic,CD93,NA,nonsynonymous SNV,CD93:NM_012072:exon1:c.G1487A:p.R496H,T,N,N,T,N,T
chr5,43505976,43505976,G,A,P247302_S,C5orf34,Missense_Mutation,NM_198566,exon4,c.C806T,p.S269F,SNP,SNVindel,exonic,C5orf34,NA,nonsynonymous SNV,C5orf34:NM_198566:exon4:c.C806T:p.S269F,D,N,N,T,N,T
chr10,16975121,16975121,C,T,P247302_S,CUBN,Missense_Mutation,NM_001081,exon40,c.G6089A,p.R2030Q,SNP,SNVindel,exonic,CUBN,NA,nonsynonymous SNV,CUBN:NM_001081:exon40:c.G6089A:p.R2030Q,T,N,N,T,N,T
chr5,33963850,33963850,G,A,P247302_S,SLC45A2,Silent,NM_001012509,exon3,c.C834T,p.Y278Y,SNP,SNVindel,exonic,SLC45A2,NA,synonymous SNV,"SLC45A2:NM_001012509:exon3:c.C834T:p.Y278Y,SLC45A2:NM_016180:exon3:c.C834T:p.Y278Y",NA,NA,NA,NA,NA,NA
chr1,113057615,113057615,G,A,P247302_S,WNT2B,Missense_Mutation,NM_001291880,exon2,c.G26A,p.R9Q,SNP,SNVindel,exonic,WNT2B,NA,nonsynonymous SNV,"WNT2B:NM_001291880:exon2:c.G26A:p.R9Q,WNT2B:NM_024494:exon2:c.G302A:p.R101Q,WNT2B:NM_004185:exon3:c.G245A:p.R82Q",T,D,D,T,N,T
chr8,145739024,145739024,C,T,P247302_S,RECQL4,Missense_Mutation,NM_004260,exon13,c.G2131A,p.E711K,SNP,SNVindel,exonic,RECQL4,NA,nonsynonymous SNV,RECQL4:NM_004260:exon13:c.G2131A:p.E711K,.,.,.,.,.,.
chr11,62289273,62289273,G,A,P247302_S,AHNAK,Missense_Mutation,NM_001346445,exon5,c.C12616T,p.P4206S,SNP,SNVindel,exonic,AHNAK,NA,nonsynonymous SNV,"AHNAK:NM_001346445:exon5:c.C12616T:p.P4206S,AHNAK:NM_001346446:exon5:c.C12616T:p.P4206S,AHNAK:NM_001620:exon5:c.C12616T:p.P4206S",T,D,D,T,D,T
chr8,27824045,27824045,G,A,P247302_S,SCARA5,Missense_Mutation,NM_173833,exon3,c.C127T,p.R43W,SNP,SNVindel,exonic,SCARA5,NA,nonsynonymous SNV,SCARA5:NM_173833:exon3:c.C127T:p.R43W,D,D,D,D,D,D
chr17,79650844,79650844,G,T,P247302_S,ARL16,Silent,NM_001040025,exon1,c.C12A,p.A4A,SNP,SNVindel,exonic,ARL16,NA,synonymous SNV,ARL16:NM_001040025:exon1:c.C12A:p.A4A,NA,NA,NA,NA,NA,NA
chr19,49938460,49938460,T,C,P247302_S,SLC17A7,Silent,NM_020309,exon3,c.A399G,p.P133P,SNP,SNVindel,exonic,SLC17A7,NA,synonymous SNV,SLC17A7:NM_020309:exon3:c.A399G:p.P133P,NA,NA,NA,NA,NA,NA
chr3,10128928,10128928,C,T,P247302_S,FANCD2,Missense_Mutation,NM_001018115,exon34,c.C3446T,p.A1149V,SNP,SNVindel,exonic,FANCD2,NA,nonsynonymous SNV,"FANCD2:NM_001018115:exon34:c.C3446T:p.A1149V,FANCD2:NM_001319984:exon34:c.C3446T:p.A1149V,FANCD2:NM_033084:exon34:c.C3446T:p.A1149V",T,N,N,T,N,T
chr3,39228905,39228905,G,A,P247302_S,XIRP1,Missense_Mutation,NM_001198621,exon2,c.C2032T,p.R678W,SNP,SNVindel,exonic,XIRP1,NA,nonsynonymous SNV,"XIRP1:NM_001198621:exon2:c.C2032T:p.R678W,XIRP1:NM_194293:exon2:c.C2032T:p.R678W",D,N,N,T,D,T
chr11,64883976,64883976,G,A,P247302_S,ZNHIT2,Missense_Mutation,NM_014205,exon1,c.C1150T,p.R384W,SNP,SNVindel,exonic,ZNHIT2,NA,nonsynonymous SNV,ZNHIT2:NM_014205:exon1:c.C1150T:p.R384W,D,U,N,T,N,T
chr17,51901651,51901651,C,T,P247302_S,KIF2B,Silent,NM_032559,exon1,c.C1257T,p.N419N,SNP,SNVindel,exonic,KIF2B,NA,synonymous SNV,KIF2B:NM_032559:exon1:c.C1257T:p.N419N,NA,NA,NA,NA,NA,NA
chr2,234669619,234669619,C,A,P247302_S,UGT1A1,Missense_Mutation,NM_000463,exon1,c.C686A,p.P229Q,SNP,SNVindel,exonic,UGT1A1,NA,nonsynonymous SNV,UGT1A1:NM_000463:exon1:c.C686A:p.P229Q,T,.,N,T,N,T
chr6,167570961,167570961,C,T,P247302_S,GPR31,Missense_Mutation,NM_005299,exon1,c.G359A,p.R120Q,SNP,SNVindel,exonic,GPR31,NA,nonsynonymous SNV,GPR31:NM_005299:exon1:c.G359A:p.R120Q,T,U,N,T,N,T
chr16,4165069,4165069,G,A,P247302_S,ADCY9,Silent,NM_001116,exon2,c.C375T,p.F125F,SNP,SNVindel,exonic,ADCY9,NA,synonymous SNV,ADCY9:NM_001116:exon2:c.C375T:p.F125F,NA,NA,NA,NA,NA,NA
chr2,88484958,88484958,G,A,P247302_S,THNSL2,Missense_Mutation,NM_018271,exon7,c.G1189A,p.V397M,SNP,SNVindel,exonic,THNSL2,NA,nonsynonymous SNV,THNSL2:NM_018271:exon7:c.G1189A:p.V397M,D,D,D,D,N,D
chr6,35715085,35715085,G,A,P247302_S,ARMC12,Silent,NM_001286574,exon4,c.G492A,p.T164T,SNP,SNVindel,exonic,ARMC12,NA,synonymous SNV,"ARMC12:NM_001286574:exon4:c.G492A:p.T164T,ARMC12:NM_001286576:exon4:c.G492A:p.T164T,ARMC12:NM_145028:exon4:c.G573A:p.T191T",NA,NA,NA,NA,NA,NA
chr3,11372894,11372894,C,T,P247302_S,ATG7,Silent,NM_001144912,exon7,c.C642T,p.A214A,SNP,SNVindel,exonic,ATG7,NA,synonymous SNV,"ATG7:NM_001144912:exon7:c.C642T:p.A214A,ATG7:NM_001349236:exon7:c.C642T:p.A214A,ATG7:NM_001136031:exon8:c.C759T:p.A253A,ATG7:NM_001349237:exon8:c.C759T:p.A253A,ATG7:NM_006395:exon8:c.C759T:p.A253A,ATG7:NM_001349233:exon9:c.C759T:p.A253A,ATG7:NM_001349234:exon9:c.C759T:p.A253A,ATG7:NM_001349235:exon9:c.C759T:p.A253A,ATG7:NM_001349232:exon10:c.C759T:p.A253A",NA,NA,NA,NA,NA,NA
chr3,121340509,121340509,G,A,P247302_S,FBXO40,Missense_Mutation,NM_016298,exon3,c.G233A,p.R78H,SNP,SNVindel,exonic,FBXO40,NA,nonsynonymous SNV,FBXO40:NM_016298:exon3:c.G233A:p.R78H,D,D,D,T,D,T
chr11,130319265,130319265,G,C,P247302_S,ADAMTS15,Missense_Mutation,NM_139055,exon1,c.G397C,p.E133Q,SNP,SNVindel,exonic,ADAMTS15,NA,nonsynonymous SNV,ADAMTS15:NM_139055:exon1:c.G397C:p.E133Q,D,.,D,T,N,T
chr17,64026031,64026031,T,A,P247302_S,CEP112,Missense_Mutation,NM_001302891,exon11,c.A1203T,p.R401S,SNP,SNVindel,exonic,CEP112,NA,nonsynonymous SNV,"CEP112:NM_001302891:exon11:c.A1203T:p.R401S,CEP112:NM_001353128:exon11:c.A1203T:p.R401S,CEP112:NM_001199165:exon13:c.A1329T:p.R443S,CEP112:NM_001353127:exon13:c.A1329T:p.R443S,CEP112:NM_001353129:exon13:c.A1332T:p.R444S",D,D,N,T,N,T
chr2,210570306,210570306,C,T,P247302_S,MAP2,Silent,NM_001363913,exon8,c.C519T,p.D173D,SNP,SNVindel,exonic,MAP2,NA,synonymous SNV,"MAP2:NM_001363913:exon8:c.C519T:p.D173D,MAP2:NM_031845:exon8:c.C519T:p.D173D,MAP2:NM_031847:exon8:c.C519T:p.D173D,MAP2:NM_001039538:exon10:c.C690T:p.D230D,MAP2:NM_001363911:exon11:c.C4575T:p.D1525D,MAP2:NM_002374:exon11:c.C4587T:p.D1529D,MAP2:NM_001363910:exon12:c.C4575T:p.D1525D",NA,NA,NA,NA,NA,NA
chr16,2226328,2226328,C,T,P247302_S,TRAF7,Silent,NM_032271,exon20,c.C1941T,p.T647T,SNP,SNVindel,exonic,TRAF7,NA,synonymous SNV,TRAF7:NM_032271:exon20:c.C1941T:p.T647T,NA,NA,NA,NA,NA,NA
chr19,9325078,9325078,G,A,P247302_S,OR7D4,Silent,NM_001005191,exon1,c.C436T,p.L146L,SNP,SNVindel,exonic,OR7D4,NA,synonymous SNV,OR7D4:NM_001005191:exon1:c.C436T:p.L146L,NA,NA,NA,NA,NA,NA
chr12,57870740,57870740,G,T,P247302_S,ARHGAP9,Missense_Mutation,NM_001080156,exon4,c.C325A,p.L109I,SNP,SNVindel,exonic,ARHGAP9,NA,nonsynonymous SNV,"ARHGAP9:NM_001080156:exon4:c.C325A:p.L109I,ARHGAP9:NM_001319852:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367422:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367424:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367426:exon4:c.C325A:p.L109I,ARHGAP9:NM_001080157:exon5:c.C877A:p.L293I,ARHGAP9:NM_032496:exon6:c.C877A:p.L293I,ARHGAP9:NM_001319850:exon9:c.C877A:p.L293I",T,N,N,T,N,T
chrX,91873533,91873533,C,T,P247302_S,PCDH11X,Missense_Mutation,NM_001168362,exon5,c.C3527T,p.P1176L,SNP,SNVindel,exonic,PCDH11X,NA,nonsynonymous SNV,"PCDH11X:NM_001168362:exon5:c.C3527T:p.P1176L,PCDH11X:NM_001168363:exon5:c.C3584T:p.P1195L,PCDH11X:NM_001168360:exon6:c.C3614T:p.P1205L,PCDH11X:NM_032969:exon6:c.C3608T:p.P1203L,PCDH11X:NM_032968:exon7:c.C3638T:p.P1213L",D,.,N,T,N,T
chr10,64974548,64974548,A,G,P247302_S,JMJD1C,Missense_Mutation,NM_001322254,exon6,c.T722C,p.M241T,SNP,SNVindel,exonic,JMJD1C,NA,nonsynonymous SNV,"JMJD1C:NM_001322254:exon6:c.T722C:p.M241T,JMJD1C:NM_001282948:exon7:c.T833C:p.M278T,JMJD1C:NM_001318153:exon7:c.T515C:p.M172T,JMJD1C:NM_001322252:exon7:c.T1265C:p.M422T,JMJD1C:NM_001322258:exon7:c.T722C:p.M241T,JMJD1C:NM_001318154:exon8:c.T833C:p.M278T,JMJD1C:NM_032776:exon8:c.T1379C:p.M460T",T,N,N,T,N,T
chr2,210860289,210860289,G,A,P247302_S,UNC80,Silent,NM_182587,exon63,c.G9675A,p.T3225T,SNP,SNVindel,exonic,UNC80,NA,synonymous SNV,"UNC80:NM_182587:exon63:c.G9675A:p.T3225T,UNC80:NM_032504:exon64:c.G9747A:p.T3249T",NA,NA,NA,NA,NA,NA
chr11,118516453,118516453,C,T,P247302_S,PHLDB1,Silent,NM_001144759,exon16,c.C3276T,p.S1092S,SNP,SNVindel,exonic,PHLDB1,NA,synonymous SNV,"PHLDB1:NM_001144759:exon16:c.C3276T:p.S1092S,PHLDB1:NM_001144758:exon17:c.C3417T:p.S1139S,PHLDB1:NM_015157:exon18:c.C3417T:p.S1139S",NA,NA,NA,NA,NA,NA
chr1,1325635,1325635,C,T,P247302_S,CCNL2,Silent,NM_001350497,exon7,c.G315A,p.S105S,SNP,SNVindel,exonic,CCNL2,NA,synonymous SNV,"CCNL2:NM_001350497:exon7:c.G315A:p.S105S,CCNL2:NM_030937:exon8:c.G981A:p.S327S,CCNL2:NM_001320153:exon9:c.G315A:p.S105S,CCNL2:NM_001320155:exon9:c.G315A:p.S105S,CCNL2:NM_001350498:exon9:c.G315A:p.S105S,CCNL2:NM_001350499:exon10:c.G588A:p.S196S,CCNL2:NM_001350500:exon10:c.G588A:p.S196S",T,.,D,.,N,T
chr1,1571841,1571841,A,C,P247302_S,CDK11B,Missense_Mutation,NM_033487,exon16,c.T1152G,p.D384E,SNP,SNVindel,exonic,CDK11B,NA,nonsynonymous SNV,"CDK11B:NM_033487:exon16:c.T1152G:p.D384E,CDK11B:NM_033490:exon17:c.T1269G:p.D423E,CDK11B:NM_001291345:exon19:c.T1884G:p.D628E,CDK11B:NM_001787:exon19:c.T1953G:p.D651E,CDK11B:NM_033486:exon19:c.T1914G:p.D638E,CDK11B:NM_033489:exon20:c.T1812G:p.D604E",.,.,D,.,.,.
chr1,12836078,12836078,G,A,P247302_S,PRAMEF12,Missense_Mutation,NM_001080830,exon2,c.G680A,p.G227D,SNP,SNVindel,exonic,PRAMEF12,NA,nonsynonymous SNV,PRAMEF12:NM_001080830:exon2:c.G680A:p.G227D,D,N,N,T,D,T
chr1,35921739,35921739,G,A,P247302_S,KIAA0319L,Nonsense_Mutation,NM_024874,exon10,c.C1531T,p.Q511X,SNP,SNVindel,exonic,KIAA0319L,NA,stopgain,KIAA0319L:NM_024874:exon10:c.C1531T:p.Q511X,.,D,A,.,.,.
chr1,45500055,45500055,C,T,P247302_S,ZSWIM5,Missense_Mutation,NM_020883,exon11,c.G2378A,p.R793H,SNP,SNVindel,exonic,ZSWIM5,NA,nonsynonymous SNV,ZSWIM5:NM_020883:exon11:c.G2378A:p.R793H,D,D,D,T,D,T
chr1,47399670,47399670,G,T,P247302_S,CYP4A11,Silent,NM_001363587,exon7,c.C876A,p.G292G,SNP,SNVindel,exonic,CYP4A11,NA,synonymous SNV,"CYP4A11:NM_001363587:exon7:c.C876A:p.G292G,CYP4A11:NM_000778:exon9:c.C1170A:p.G390G,CYP4A11:NM_001319155:exon9:c.C1074A:p.G358G",NA,NA,NA,NA,NA,NA
chr1,57333290,57333290,G,A,P247302_S,C8A,Missense_Mutation,NM_000562,exon2,c.G86A,p.R29K,SNP,SNVindel,exonic,C8A,NA,nonsynonymous SNV,C8A:NM_000562:exon2:c.G86A:p.R29K,T,N,N,T,N,T
chr1,94140341,94140341,C,T,P247302_S,BCAR3,Missense_Mutation,NM_001261409,exon2,c.G146A,p.G49D,SNP,SNVindel,exonic,BCAR3,NA,nonsynonymous SNV,"BCAR3:NM_001261409:exon2:c.G146A:p.G49D,BCAR3:NM_003567:exon2:c.G146A:p.G49D,BCAR3:NM_001261408:exon4:c.G146A:p.G49D",D,D,D,T,N,T
chr1,202880303,202880303,G,A,P247302_S,KLHL12,Missense_Mutation,NM_001303051,exon5,c.C710T,p.A237V,SNP,SNVindel,exonic,KLHL12,NA,nonsynonymous SNV,"KLHL12:NM_001303051:exon5:c.C710T:p.A237V,KLHL12:NM_001303109:exon5:c.C596T:p.A199V,KLHL12:NM_021633:exon5:c.C596T:p.A199V",D,D,D,T,D,D
chr1,225428475,225428475,C,T,P247302_S,DNAH14,Silent,NM_001367479,exon43,c.C6699T,p.Y2233Y,SNP,SNVindel,exonic,DNAH14,NA,synonymous SNV,DNAH14:NM_001367479:exon43:c.C6699T:p.Y2233Y,NA,NA,NA,NA,NA,NA
chr1,236912558,236912558,G,A,P247302_S,ACTN2,Silent,NM_001103,exon14,c.G1650A,p.E550E,SNP,SNVindel,exonic,ACTN2,NA,synonymous SNV,"ACTN2:NM_001103:exon14:c.G1650A:p.E550E,ACTN2:NM_001278343:exon14:c.G1650A:p.E550E,ACTN2:NM_001278344:exon16:c.G1026A:p.E342E",NA,NA,NA,NA,NA,NA
chr1,248112554,248112554,T,C,P247302_S,OR2L8,Missense_Mutation,NM_001001963,exon1,c.T395C,p.L132P,SNP,SNVindel,exonic,OR2L8,NA,nonsynonymous SNV,OR2L8:NM_001001963:exon1:c.T395C:p.L132P,T,N,N,T,N,T
chr2,27459352,27459352,C,T,P247302_S,CAD,Silent,NM_001306079,exon25,c.C4086T,p.P1362P,SNP,SNVindel,exonic,CAD,NA,synonymous SNV,"CAD:NM_001306079:exon25:c.C4086T:p.P1362P,CAD:NM_004341:exon26:c.C4275T:p.P1425P",NA,NA,NA,NA,NA,NA
chr2,58392929,58392929,G,A,P247302_S,FANCL,Silent,NM_001114636,exon8,c.C636T,p.I212I,SNP,SNVindel,exonic,FANCL,NA,synonymous SNV,"FANCL:NM_001114636:exon8:c.C636T:p.I212I,FANCL:NM_018062:exon8:c.C621T:p.I207I",NA,NA,NA,NA,NA,NA
chr2,97007437,97007437,C,T,P247302_S,NCAPH,Missense_Mutation,NM_001281710,exon2,c.C44T,p.A15V,SNP,SNVindel,exonic,NCAPH,NA,nonsynonymous SNV,"NCAPH:NM_001281710:exon2:c.C44T:p.A15V,NCAPH:NM_015341:exon2:c.C77T:p.A26V",T,N,N,T,N,T
chr2,98916675,98916675,G,A,P247302_S,VWA3B,Missense_Mutation,NM_001345864,exon19,c.G2387A,p.R796Q,SNP,SNVindel,exonic,VWA3B,NA,nonsynonymous SNV,"VWA3B:NM_001345864:exon19:c.G2387A:p.R796Q,VWA3B:NM_144992:exon25:c.G3416A:p.R1139Q",D,U,D,T,N,T
chr2,108489230,108489230,G,A,P247302_S,RGPD4,Silent,NM_182588,exon20,c.G4770A,p.Q1590Q,SNP,SNVindel,exonic,RGPD4,NA,synonymous SNV,RGPD4:NM_182588:exon20:c.G4770A:p.Q1590Q,NA,NA,NA,NA,NA,NA
chr2,132914629,132914629,C,A,P247302_S,ANKRD30BL,Missense_Mutation,NM_001358416,exon3,c.G424T,p.V142F,SNP,SNVindel,exonic,ANKRD30BL,NA,nonsynonymous SNV,ANKRD30BL:NM_001358416:exon3:c.G424T:p.V142F,D,.,N,T,N,T
chr2,179396259,179396259,G,A,P247302_S,TTN,Missense_Mutation,NM_003319,exon186,c.C77888T,p.T25963M,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon186:c.C77888T:p.T25963M,TTN:NM_133432:exon187:c.C78263T:p.T26088M,TTN:NM_133437:exon187:c.C78464T:p.T26155M,TTN:NM_133378:exon307:c.C97379T:p.T32460M,TTN:NM_001256850:exon308:c.C100160T:p.T33387M,TTN:NM_001267550:exon358:c.C105083T:p.T35028M",T,.,D,T,D,D
chr2,206870180,206870180,C,T,P247302_S,INO80D,Missense_Mutation,NM_017759,exon11,c.G1996A,p.E666K,SNP,SNVindel,exonic,INO80D,NA,nonsynonymous SNV,INO80D:NM_017759:exon11:c.G1996A:p.E666K,T,D,D,T,N,T
chr2,227659772,227659772,G,A,P247302_S,IRS1,Missense_Mutation,NM_005544,exon1,c.C3683T,p.A1228V,SNP,SNVindel,exonic,IRS1,NA,nonsynonymous SNV,IRS1:NM_005544:exon1:c.C3683T:p.A1228V,D,N,N,T,N,T
chr3,27758893,27758893,C,T,P247302_S,EOMES,Missense_Mutation,NM_001278182,exon6,c.G1786A,p.G596S,SNP,SNVindel,exonic,EOMES,NA,nonsynonymous SNV,"EOMES:NM_001278182:exon6:c.G1786A:p.G596S,EOMES:NM_001278183:exon6:c.G901A:p.G301S,EOMES:NM_005442:exon6:c.G1729A:p.G577S",T,N,D,D,N,T
chr3,37151183,37151183,G,A,P247302_S,LRRFIP2,Silent,NM_001348297,exon9,c.C432T,p.S144S,SNP,SNVindel,exonic,LRRFIP2,NA,synonymous SNV,"LRRFIP2:NM_001348297:exon9:c.C432T:p.S144S,LRRFIP2:NM_006309:exon10:c.C525T:p.S175S",NA,NA,NA,NA,NA,NA
chr3,44636460,44636460,C,T,P247302_S,ZNF660,Nonsense_Mutation,NM_173658,exon3,c.C775T,p.R259X,SNP,SNVindel,exonic,ZNF660,NA,stopgain,ZNF660:NM_173658:exon3:c.C775T:p.R259X,.,.,D,.,.,.
chr3,47467065,47467065,G,A,P247302_S,SCAP,Missense_Mutation,NM_001320044,exon5,c.C182T,p.A61V,SNP,SNVindel,exonic,SCAP,NA,nonsynonymous SNV,"SCAP:NM_001320044:exon5:c.C182T:p.A61V,SCAP:NM_012235:exon8:c.C947T:p.A316V",D,D,D,D,D,D
chr3,65346898,65346898,C,T,P247302_S,MAGI1,Missense_Mutation,NM_001033057,exon22,c.G3610A,p.G1204R,SNP,SNVindel,exonic,MAGI1,NA,nonsynonymous SNV,"MAGI1:NM_001033057:exon22:c.G3610A:p.G1204R,MAGI1:NM_001365903:exon23:c.G3700A:p.G1234R,MAGI1:NM_001365904:exon23:c.G3697A:p.G1233R,MAGI1:NM_001365905:exon23:c.G3700A:p.G1234R,MAGI1:NM_004742:exon23:c.G3697A:p.G1233R,MAGI1:NM_015520:exon23:c.G3694A:p.G1232R",D,D,D,T,D,T
chr3,147128086,147128086,G,A,P247302_S,ZIC1,Missense_Mutation,NM_003412,exon1,c.G187A,p.A63T,SNP,SNVindel,exonic,ZIC1,NA,nonsynonymous SNV,ZIC1:NM_003412:exon1:c.G187A:p.A63T,D,D,D,D,N,D
chr3,155314068,155314068,C,T,P247302_S,PLCH1,Missense_Mutation,NM_001130960,exon2,c.G143A,p.R48Q,SNP,SNVindel,exonic,PLCH1,NA,nonsynonymous SNV,"PLCH1:NM_001130960:exon2:c.G143A:p.R48Q,PLCH1:NM_001130961:exon2:c.G143A:p.R48Q,PLCH1:NM_001349250:exon2:c.G143A:p.R48Q,PLCH1:NM_014996:exon2:c.G179A:p.R60Q,PLCH1:NM_001349251:exon3:c.G179A:p.R60Q,PLCH1:NM_001349252:exon3:c.G179A:p.R60Q",T,N,D,T,N,T
chr4,8607830,8607830,G,A,P247302_S,CPZ,Missense_Mutation,NM_003652,exon4,c.G791A,p.R264H,SNP,SNVindel,exonic,CPZ,NA,nonsynonymous SNV,"CPZ:NM_003652:exon4:c.G791A:p.R264H,CPZ:NM_001014447:exon5:c.G824A:p.R275H,CPZ:NM_001014448:exon5:c.G413A:p.R138H",D,U,D,T,D,T
chr4,24839827,24839827,G,A,P247302_S,CCDC149,Missense_Mutation,NM_001130726,exon5,c.C440T,p.A147V,SNP,SNVindel,exonic,CCDC149,NA,nonsynonymous SNV,"CCDC149:NM_001130726:exon5:c.C440T:p.A147V,CCDC149:NM_001330643:exon5:c.C440T:p.A147V,CCDC149:NM_001330644:exon6:c.C275T:p.A92V,CCDC149:NM_173463:exon6:c.C440T:p.A147V",T,D,D,.,D,T
chr4,38775165,38775165,C,T,P247302_S,TLR10,Missense_Mutation,NM_001017388,exon2,c.G2047A,p.V683I,SNP,SNVindel,exonic,TLR10,NA,nonsynonymous SNV,"TLR10:NM_001017388:exon2:c.G2047A:p.V683I,TLR10:NM_001195106:exon3:c.G2047A:p.V683I,TLR10:NM_001195107:exon3:c.G2047A:p.V683I,TLR10:NM_001195108:exon3:c.G2005A:p.V669I,TLR10:NM_030956:exon4:c.G2047A:p.V683I",T,N,N,T,N,T
chr4,44177123,44177123,G,A,P247302_S,KCTD8,Missense_Mutation,NM_198353,exon2,c.C1106T,p.P369L,SNP,SNVindel,exonic,KCTD8,NA,nonsynonymous SNV,KCTD8:NM_198353:exon2:c.C1106T:p.P369L,D,D,D,T,N,T
chr4,78695757,78695757,G,A,P247302_S,CNOT6L,Silent,NM_001286790,exon3,c.C241T,p.L81L,SNP,SNVindel,exonic,CNOT6L,NA,synonymous SNV,"CNOT6L:NM_001286790:exon3:c.C241T:p.L81L,CNOT6L:NM_001365006:exon3:c.C226T:p.L76L,CNOT6L:NM_001365007:exon3:c.C226T:p.L76L,CNOT6L:NM_144571:exon3:c.C241T:p.L81L",NA,NA,NA,NA,NA,NA
chr4,153251936,153251936,C,T,P247302_S,FBXW7,Missense_Mutation,NM_001013415,exon6,c.G716A,p.R239K,SNP,SNVindel,exonic,FBXW7,NA,nonsynonymous SNV,"FBXW7:NM_001013415:exon6:c.G716A:p.R239K,FBXW7:NM_018315:exon6:c.G830A:p.R277K,FBXW7:NM_033632:exon7:c.G1070A:p.R357K,FBXW7:NM_001349798:exon9:c.G1070A:p.R357K",D,D,D,T,N,T
chr4,175649778,175649778,G,A,P247302_S,GLRA3,Silent,NM_001042543,exon4,c.C339T,p.D113D,SNP,SNVindel,exonic,GLRA3,NA,synonymous SNV,"GLRA3:NM_001042543:exon4:c.C339T:p.D113D,GLRA3:NM_006529:exon4:c.C339T:p.D113D",NA,NA,NA,NA,NA,NA
chr5,67589188,67589188,C,T,P247302_S,PIK3R1,Silent,NM_001242466,exon3,c.C87T,p.F29F,SNP,SNVindel,exonic,PIK3R1,NA,synonymous SNV,"PIK3R1:NM_001242466:exon3:c.C87T:p.F29F,PIK3R1:NM_181504:exon4:c.C366T:p.F122F,PIK3R1:NM_181524:exon4:c.C276T:p.F92F,PIK3R1:NM_181523:exon10:c.C1176T:p.F392F",NA,NA,NA,NA,NA,NA
chr5,127681064,127681064,G,A,P247302_S,FBN2,Missense_Mutation,NM_001999,exon24,c.C3202T,p.R1068W,SNP,SNVindel,exonic,FBN2,NA,nonsynonymous SNV,FBN2:NM_001999:exon24:c.C3202T:p.R1068W,D,N,D,D,D,D
chr5,140175978,140175978,G,A,P247302_S,PCDHA2,Missense_Mutation,NM_018905,exon1,c.G1429A,p.V477M,SNP,SNVindel,exonic,PCDHA2,NA,nonsynonymous SNV,"PCDHA2:NM_018905:exon1:c.G1429A:p.V477M,PCDHA2:NM_031495:exon1:c.G1429A:p.V477M,PCDHA2:NM_031496:exon1:c.G1429A:p.V477M",D,U,D,T,D,T
chr5,180376262,180376262,G,A,P247302_S,BTNL8,Missense_Mutation,NM_001159707,exon6,c.G511A,p.A171T,SNP,SNVindel,exonic,BTNL8,NA,nonsynonymous SNV,"BTNL8:NM_001159707:exon6:c.G511A:p.A171T,BTNL8:NM_001159708:exon6:c.G968A:p.R323H,BTNL8:NM_001159710:exon6:c.G307A:p.A103T,BTNL8:NM_001040462:exon7:c.G859A:p.A287T,BTNL8:NM_001159709:exon7:c.G484A:p.A162T,BTNL8:NM_024850:exon7:c.G989A:p.R330H",D,.,N,T,D,T
chr6,25466140,25466140,G,A,P247302_S,CARMIL1,Silent,NM_001173977,exon9,c.G654A,p.Q218Q,SNP,SNVindel,exonic,CARMIL1,NA,synonymous SNV,"CARMIL1:NM_001173977:exon9:c.G654A:p.Q218Q,CARMIL1:NM_017640:exon9:c.G654A:p.Q218Q",NA,NA,NA,NA,NA,NA
chr6,149395109,149395109,C,T,P247302_S,UST,Missense_Mutation,NM_005715,exon8,c.C1078T,p.R360C,SNP,SNVindel,exonic,UST,NA,nonsynonymous SNV,UST:NM_005715:exon8:c.C1078T:p.R360C,D,D,D,T,D,T
chr6,152560706,152560706,C,T,P247302_S,SYNE1,Missense_Mutation,NM_033071,exon107,c.G19816A,p.A6606T,SNP,SNVindel,exonic,SYNE1,NA,nonsynonymous SNV,"SYNE1:NM_033071:exon107:c.G19816A:p.A6606T,SYNE1:NM_182961:exon108:c.G20029A:p.A6677T",D,D,D,T,D,T
chr6,160952868,160952868,C,T,P247302_S,LPA,Missense_Mutation,NM_005577,exon39,c.G6016A,p.G2006R,SNP,SNVindel,exonic,LPA,NA,nonsynonymous SNV,LPA:NM_005577:exon39:c.G6016A:p.G2006R,D,.,D,D,D,D
chr7,48147020,48147020,G,A,P247302_S,UPP1,Missense_Mutation,NM_001287429,exon5,c.G298A,p.E100K,SNP,SNVindel,exonic,UPP1,NA,nonsynonymous SNV,"UPP1:NM_001287429:exon5:c.G298A:p.E100K,UPP1:NM_001287430:exon5:c.G298A:p.E100K,UPP1:NM_001287428:exon6:c.G298A:p.E100K,UPP1:NM_003364:exon8:c.G709A:p.E237K,UPP1:NM_001287426:exon9:c.G709A:p.E237K,UPP1:NM_001362774:exon9:c.G709A:p.E237K",T,N,N,D,N,T
chr7,53103741,53103741,G,A,P247302_S,POM121L12,Missense_Mutation,NM_182595,exon1,c.G377A,p.R126H,SNP,SNVindel,exonic,POM121L12,NA,nonsynonymous SNV,POM121L12:NM_182595:exon1:c.G377A:p.R126H,T,.,N,T,N,T
chr7,76828847,76828847,G,A,P247302_S,FGL2,Silent,NM_006682,exon1,c.C264T,p.I88I,SNP,SNVindel,exonic,FGL2,NA,synonymous SNV,FGL2:NM_006682:exon1:c.C264T:p.I88I,NA,NA,NA,NA,NA,NA
chr7,92762501,92762501,G,A,P247302_S,SAMD9L,Silent,NM_001303500,exon4,c.C2784T,p.L928L,SNP,SNVindel,exonic,SAMD9L,NA,synonymous SNV,"SAMD9L:NM_001303500:exon4:c.C2784T:p.L928L,SAMD9L:NM_001350083:exon4:c.C2784T:p.L928L,SAMD9L:NM_001303496:exon5:c.C2784T:p.L928L,SAMD9L:NM_001303498:exon5:c.C2784T:p.L928L,SAMD9L:NM_001350085:exon5:c.C2784T:p.L928L,SAMD9L:NM_152703:exon5:c.C2784T:p.L928L,SAMD9L:NM_001303497:exon6:c.C2784T:p.L928L,SAMD9L:NM_001350082:exon6:c.C2784T:p.L928L,SAMD9L:NM_001350084:exon6:c.C2784T:p.L928L",NA,NA,NA,NA,NA,NA
chr7,111540490,111540490,G,A,P247302_S,DOCK4,Missense_Mutation,NM_001363540,exon15,c.C1420T,p.P474S,SNP,SNVindel,exonic,DOCK4,NA,nonsynonymous SNV,"DOCK4:NM_001363540:exon15:c.C1420T:p.P474S,DOCK4:NM_014705:exon15:c.C1420T:p.P474S",T,D,D,T,N,T
chr7,138822600,138822600,G,A,P247302_S,TTC26,Missense_Mutation,NM_001144920,exon3,c.G149A,p.R50H,SNP,SNVindel,exonic,TTC26,NA,nonsynonymous SNV,"TTC26:NM_001144920:exon3:c.G149A:p.R50H,TTC26:NM_001287512:exon3:c.G149A:p.R50H,TTC26:NM_001321740:exon3:c.G149A:p.R50H,TTC26:NM_001321741:exon3:c.G149A:p.R50H,TTC26:NM_001321742:exon3:c.G149A:p.R50H,TTC26:NM_024926:exon3:c.G149A:p.R50H",T,D,D,T,D,T
chr8,22141694,22141694,G,A,P247302_S,PIWIL2,Missense_Mutation,NM_001135721,exon6,c.G652A,p.G218R,SNP,SNVindel,exonic,PIWIL2,NA,nonsynonymous SNV,"PIWIL2:NM_001135721:exon6:c.G652A:p.G218R,PIWIL2:NM_001330480:exon6:c.G652A:p.G218R,PIWIL2:NM_018068:exon6:c.G652A:p.G218R",D,D,D,T,D,T
chr8,39525630,39525630,C,T,P247302_S,ADAM18,Silent,NM_001320313,exon13,c.C1368T,p.G456G,SNP,SNVindel,exonic,ADAM18,NA,synonymous SNV,"ADAM18:NM_001320313:exon13:c.C1368T:p.G456G,ADAM18:NM_014237:exon14:c.C1440T:p.G480G",NA,NA,NA,NA,NA,NA
chr8,52370154,52370154,T,C,P247302_S,PXDNL,Missense_Mutation,NM_144651,exon9,c.A886G,p.R296G,SNP,SNVindel,exonic,PXDNL,NA,nonsynonymous SNV,PXDNL:NM_144651:exon9:c.A886G:p.R296G,T,.,N,T,N,T
chr9,34725112,34725112,C,T,P247302_S,FAM205A,Missense_Mutation,NM_001141917,exon4,c.G2125A,p.A709T,SNP,SNVindel,exonic,FAM205A,NA,nonsynonymous SNV,FAM205A:NM_001141917:exon4:c.G2125A:p.A709T,D,.,N,T,N,T
chr9,43822668,43822668,C,T,P247302_S,CNTNAP3B,Missense_Mutation,NM_001201380,exon8,c.C1222T,p.L408F,SNP,SNVindel,exonic,CNTNAP3B,NA,nonsynonymous SNV,CNTNAP3B:NM_001201380:exon8:c.C1222T:p.L408F,NA,NA,NA,NA,NA,NA
chr9,43822686,43822686,C,A,P247302_S,CNTNAP3B,Missense_Mutation,NM_001201380,exon8,c.C1240A,p.R414S,SNP,SNVindel,exonic,CNTNAP3B,NA,nonsynonymous SNV,CNTNAP3B:NM_001201380:exon8:c.C1240A:p.R414S,NA,NA,NA,NA,NA,NA
chr9,43822704,43822704,G,A,P247302_S,CNTNAP3B,Missense_Mutation,NM_001201380,exon8,c.G1258A,p.V420I,SNP,SNVindel,exonic,CNTNAP3B,NA,nonsynonymous SNV,CNTNAP3B:NM_001201380:exon8:c.G1258A:p.V420I,NA,NA,NA,NA,NA,NA
chr9,139361517,139361517,C,T,P247302_S,SEC16A,Missense_Mutation,NM_001276418,exon5,c.G3821A,p.R1274H,SNP,SNVindel,exonic,SEC16A,NA,nonsynonymous SNV,"SEC16A:NM_001276418:exon5:c.G3821A:p.R1274H,SEC16A:NM_014866:exon6:c.G3821A:p.R1274H",D,D,N,T,N,T
chr9,139944736,139944736,C,G,P247302_S,ENTPD2,Silent,NM_001246,exon6,c.G1029C,p.V343V,SNP,SNVindel,exonic,ENTPD2,NA,synonymous SNV,"ENTPD2:NM_001246:exon6:c.G1029C:p.V343V,ENTPD2:NM_203468:exon6:c.G1029C:p.V343V",NA,NA,NA,NA,NA,NA
chr9,139983368,139983368,G,A,P247302_S,MAN1B1,Missense_Mutation,NM_016219,exon3,c.G376A,p.A126T,SNP,SNVindel,exonic,MAN1B1,NA,nonsynonymous SNV,MAN1B1:NM_016219:exon3:c.G376A:p.A126T,T,U,N,T,N,T
chr10,6525542,6525542,C,T,P247302_S,PRKCQ,Missense_Mutation,NM_001282645,exon10,c.G664A,p.E222K,SNP,SNVindel,exonic,PRKCQ,NA,nonsynonymous SNV,"PRKCQ:NM_001282645:exon10:c.G664A:p.E222K,PRKCQ:NM_001323266:exon10:c.G664A:p.E222K,PRKCQ:NM_001242413:exon11:c.G1039A:p.E347K,PRKCQ:NM_001282644:exon11:c.G931A:p.E311K,PRKCQ:NM_001323265:exon11:c.G1039A:p.E347K,PRKCQ:NM_001323267:exon11:c.G931A:p.E311K,PRKCQ:NM_006257:exon11:c.G1039A:p.E347K",T,N,D,T,N,T
chr10,117849334,117849334,C,T,P247302_S,GFRA1,Missense_Mutation,NM_001348099,exon5,c.G752A,p.R251Q,SNP,SNVindel,exonic,GFRA1,NA,nonsynonymous SNV,"GFRA1:NM_001348099:exon5:c.G752A:p.R251Q,GFRA1:NM_145793:exon7:c.G1100A:p.R367Q,GFRA1:NM_001145453:exon8:c.G1100A:p.R367Q,GFRA1:NM_001348096:exon8:c.G1100A:p.R367Q,GFRA1:NM_001348098:exon9:c.G1115A:p.R372Q,GFRA1:NM_005264:exon9:c.G1115A:p.R372Q",D,D,D,T,N,T
chr11,2338683,2338683,G,A,P247302_S,TSPAN32,Missense_Mutation,NM_139022,exon9,c.G829A,p.G277S,SNP,SNVindel,exonic,TSPAN32,NA,nonsynonymous SNV,TSPAN32:NM_139022:exon9:c.G829A:p.G277S,D,.,N,T,N,T
chr11,68542898,68542898,G,A,P247302_S,CPT1A,Silent,NM_001031847,exon13,c.C1461T,p.Y487Y,SNP,SNVindel,exonic,CPT1A,NA,synonymous SNV,"CPT1A:NM_001031847:exon13:c.C1461T:p.Y487Y,CPT1A:NM_001876:exon13:c.C1461T:p.Y487Y",NA,NA,NA,NA,NA,NA
chr11,102098268,102098268,G,A,P247302_S,YAP1,Missense_Mutation,NM_001282098,exon6,c.G1082A,p.R361Q,SNP,SNVindel,exonic,YAP1,NA,nonsynonymous SNV,"YAP1:NM_001282098:exon6:c.G1082A:p.R361Q,YAP1:NM_006106:exon6:c.G1070A:p.R357Q,YAP1:NM_001195044:exon7:c.G1184A:p.R395Q,YAP1:NM_001282097:exon7:c.G1118A:p.R373Q,YAP1:NM_001282099:exon7:c.G1130A:p.R377Q,YAP1:NM_001282100:exon7:c.G1196A:p.R399Q,YAP1:NM_001130145:exon8:c.G1232A:p.R411Q,YAP1:NM_001195045:exon8:c.G698A:p.R233Q,YAP1:NM_001282101:exon8:c.G1244A:p.R415Q",T,D,D,T,N,T
chr11,103908634,103908634,C,T,P247302_S,DDI1,Missense_Mutation,NM_001001711,exon1,c.C1084T,p.P362S,SNP,SNVindel,exonic,DDI1,NA,nonsynonymous SNV,DDI1:NM_001001711:exon1:c.C1084T:p.P362S,T,D,D,T,N,T
chr11,108040720,108040720,C,T,P247302_S,NPAT,Missense_Mutation,NM_001321307,exon14,c.G2836A,p.V946I,SNP,SNVindel,exonic,NPAT,NA,nonsynonymous SNV,"NPAT:NM_001321307:exon14:c.G2836A:p.V946I,NPAT:NM_002519:exon14:c.G2836A:p.V946I",D,D,D,T,N,T
chr11,119027100,119027100,G,A,P247302_S,ABCG4,Missense_Mutation,NM_001142505,exon7,c.G748A,p.G250S,SNP,SNVindel,exonic,ABCG4,NA,nonsynonymous SNV,"ABCG4:NM_001142505:exon7:c.G748A:p.G250S,ABCG4:NM_001348191:exon7:c.G748A:p.G250S,ABCG4:NM_022169:exon7:c.G748A:p.G250S,ABCG4:NM_001348192:exon8:c.G565A:p.G189S",.,D,D,.,.,D
chr12,1023284,1023284,G,A,P247302_S,RAD52,Missense_Mutation,NM_001297421,exon9,c.C740T,p.T247I,SNP,SNVindel,exonic,RAD52,NA,nonsynonymous SNV,"RAD52:NM_001297421:exon9:c.C740T:p.T247I,RAD52:NM_001297419:exon11:c.C971T:p.T324I,RAD52:NM_134424:exon11:c.C971T:p.T324I",D,N,N,T,N,T
chr12,2764386,2764386,C,T,P247302_S,CACNA1C,Missense_Mutation,NM_001129837,exon33,c.C4181T,p.A1394V,SNP,SNVindel,exonic,CACNA1C,NA,nonsynonymous SNV,"CACNA1C:NM_001129837:exon33:c.C4181T:p.A1394V,CACNA1C:NM_001129838:exon33:c.C4181T:p.A1394V,CACNA1C:NM_001129839:exon33:c.C4175T:p.A1392V,CACNA1C:NM_001129846:exon33:c.C4181T:p.A1394V,CACNA1C:NM_001167625:exon33:c.C4181T:p.A1394V,CACNA1C:NM_000719:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001129829:exon34:c.C4280T:p.A1427V,CACNA1C:NM_001129830:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001129833:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001129834:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001129835:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001129836:exon34:c.C4265T:p.A1422V,CACNA1C:NM_001129840:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001129841:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001129842:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001129843:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001129844:exon34:c.C4205T:p.A1402V,CACNA1C:NM_001167623:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001167624:exon34:c.C4214T:p.A1405V,CACNA1C:NM_001129831:exon35:c.C4298T:p.A1433V,CACNA1C:NM_001129832:exon35:c.C4274T:p.A1425V,CACNA1C:NM_001129827:exon36:c.C4358T:p.A1453V,CACNA1C:NM_199460:exon36:c.C4358T:p.A1453V",D,D,D,D,D,D
chr12,6705193,6705193,T,C,P247302_S,CHD4,Missense_Mutation,NM_001297553,exon12,c.A1982G,p.K661R,SNP,SNVindel,exonic,CHD4,NA,nonsynonymous SNV,"CHD4:NM_001297553:exon12:c.A1982G:p.K661R,CHD4:NM_001273:exon13:c.A2003G:p.K668R,CHD4:NM_001363606:exon13:c.A1964G:p.K655R",T,D,D,T,N,T
chr12,54793512,54793512,G,A,P247302_S,ITGA5,Missense_Mutation,NM_002205,exon27,c.C2758T,p.R920C,SNP,SNVindel,exonic,ITGA5,NA,nonsynonymous SNV,ITGA5:NM_002205:exon27:c.C2758T:p.R920C,T,N,D,T,N,T
chr12,58127841,58127841,C,T,P247302_S,AGAP2,Missense_Mutation,NM_001122772,exon5,c.G1517A,p.G506E,SNP,SNVindel,exonic,AGAP2,NA,nonsynonymous SNV,"AGAP2:NM_001122772:exon5:c.G1517A:p.G506E,AGAP2:NM_014770:exon5:c.G509A:p.G170E",T,N,D,T,N,T
chr12,89745744,89745744,C,T,P247302_S,DUSP6,Missense_Mutation,NM_001946,exon1,c.G73A,p.E25K,SNP,SNVindel,exonic,DUSP6,NA,nonsynonymous SNV,"DUSP6:NM_001946:exon1:c.G73A:p.E25K,DUSP6:NM_022652:exon1:c.G73A:p.E25K",T,D,D,T,N,T
chr12,132624677,132624677,C,T,P247302_S,DDX51,Missense_Mutation,NM_175066,exon12,c.G1741A,p.D581N,SNP,SNVindel,exonic,DDX51,NA,nonsynonymous SNV,DDX51:NM_175066:exon12:c.G1741A:p.D581N,D,D,D,T,D,T
chr13,36229746,36229746,G,A,P247302_S,NBEA,Nonsense_Mutation,NM_001204197,exon14,c.G1538A,p.W513X,SNP,SNVindel,exonic,NBEA,NA,stopgain,"NBEA:NM_001204197:exon14:c.G1538A:p.W513X,NBEA:NM_015678:exon54:c.G8159A:p.W2720X",.,D,A,.,.,.
chr13,43181003,43181003,G,A,P247302_S,TNFSF11,Silent,NM_003701,exon5,c.G903A,p.P301P,SNP,SNVindel,exonic,TNFSF11,NA,synonymous SNV,"TNFSF11:NM_003701:exon5:c.G903A:p.P301P,TNFSF11:NM_033012:exon7:c.G684A:p.P228P",NA,NA,NA,NA,NA,NA
chr14,24729695,24729695,G,A,P247302_S,TGM1,Missense_Mutation,NM_000359,exon4,c.C718T,p.R240C,SNP,SNVindel,exonic,TGM1,NA,nonsynonymous SNV,TGM1:NM_000359:exon4:c.C718T:p.R240C,D,N,N,D,N,T
chr14,39561816,39561816,C,A,P247302_S,SEC23A,Missense_Mutation,NM_006364,exon4,c.G295T,p.A99S,SNP,SNVindel,exonic,SEC23A,NA,nonsynonymous SNV,SEC23A:NM_006364:exon4:c.G295T:p.A99S,T,D,D,D,N,T
chr15,28502228,28502228,C,T,P247302_S,HERC2,Silent,NM_004667,exon17,c.G2496A,p.T832T,SNP,SNVindel,exonic,HERC2,NA,synonymous SNV,HERC2:NM_004667:exon17:c.G2496A:p.T832T,NA,NA,NA,NA,NA,NA
chr15,43109245,43109245,G,A,P247302_S,TTBK2,Silent,NM_173500,exon7,c.C588T,p.N196N,SNP,SNVindel,exonic,TTBK2,NA,synonymous SNV,TTBK2:NM_173500:exon7:c.C588T:p.N196N,NA,NA,NA,NA,NA,NA
chr15,90431850,90431850,G,A,P247302_S,AP3S2,Missense_Mutation,NM_005829,exon3,c.C176T,p.S59F,SNP,SNVindel,exonic,AP3S2;ARPIN-AP3S2,NA,nonsynonymous SNV,"AP3S2:NM_005829:exon3:c.C176T:p.S59F,ARPIN-AP3S2:NM_001199058:exon7:c.C779T:p.S260F",D,N,D,T,D,T
chr16,920820,920820,G,A,P247302_S,LMF1,Missense_Mutation,NM_001352019,exon8,c.C814T,p.P272S,SNP,SNVindel,exonic,LMF1,NA,nonsynonymous SNV,"LMF1:NM_001352019:exon8:c.C814T:p.P272S,LMF1:NM_001352020:exon8:c.C1141T:p.P381S,LMF1:NM_001352021:exon8:c.C490T:p.P164S,LMF1:NM_022773:exon8:c.C1141T:p.P381S,LMF1:NM_001352017:exon9:c.C490T:p.P164S,LMF1:NM_001352018:exon9:c.C742T:p.P248S",D,D,D,T,D,T
chr17,4457340,4457340,G,A,P247302_S,MYBBP1A,Missense_Mutation,NM_001105538,exon4,c.C427T,p.L143F,SNP,SNVindel,exonic,MYBBP1A,NA,nonsynonymous SNV,"MYBBP1A:NM_001105538:exon4:c.C427T:p.L143F,MYBBP1A:NM_014520:exon4:c.C427T:p.L143F",D,D,D,T,D,T
chr17,7578253,7578253,C,T,P247302_S,TP53,Missense_Mutation,NM_001126115,exon2,c.G200A,p.G67E,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon2:c.G200A:p.G67E,TP53:NM_001126116:exon2:c.G200A:p.G67E,TP53:NM_001126117:exon2:c.G200A:p.G67E,TP53:NM_001276697:exon2:c.G119A:p.G40E,TP53:NM_001276698:exon2:c.G119A:p.G40E,TP53:NM_001276699:exon2:c.G119A:p.G40E,TP53:NM_001126118:exon5:c.G479A:p.G160E,TP53:NM_000546:exon6:c.G596A:p.G199E,TP53:NM_001126112:exon6:c.G596A:p.G199E,TP53:NM_001126113:exon6:c.G596A:p.G199E,TP53:NM_001126114:exon6:c.G596A:p.G199E,TP53:NM_001276695:exon6:c.G479A:p.G160E,TP53:NM_001276696:exon6:c.G479A:p.G160E,TP53:NM_001276760:exon6:c.G479A:p.G160E,TP53:NM_001276761:exon6:c.G479A:p.G160E",D,D,D,D,D,D
chr17,7578395,7578395,G,A,P247302_S,TP53,Missense_Mutation,NM_001126115,exon1,c.C139T,p.H47Y,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon1:c.C139T:p.H47Y,TP53:NM_001126116:exon1:c.C139T:p.H47Y,TP53:NM_001126117:exon1:c.C139T:p.H47Y,TP53:NM_001276697:exon1:c.C58T:p.H20Y,TP53:NM_001276698:exon1:c.C58T:p.H20Y,TP53:NM_001276699:exon1:c.C58T:p.H20Y,TP53:NM_001126118:exon4:c.C418T:p.H140Y,TP53:NM_000546:exon5:c.C535T:p.H179Y,TP53:NM_001126112:exon5:c.C535T:p.H179Y,TP53:NM_001126113:exon5:c.C535T:p.H179Y,TP53:NM_001126114:exon5:c.C535T:p.H179Y,TP53:NM_001276695:exon5:c.C418T:p.H140Y,TP53:NM_001276696:exon5:c.C418T:p.H140Y,TP53:NM_001276760:exon5:c.C418T:p.H140Y,TP53:NM_001276761:exon5:c.C418T:p.H140Y",D,D,D,D,D,D
chr17,26965653,26965653,G,A,P247302_S,KIAA0100,Missense_Mutation,NM_001363826,exon11,c.C808T,p.P270S,SNP,SNVindel,exonic,KIAA0100,NA,nonsynonymous SNV,"KIAA0100:NM_001363826:exon11:c.C808T:p.P270S,KIAA0100:NM_001363827:exon11:c.C232T:p.P78S,KIAA0100:NM_001321560:exon12:c.C1237T:p.P413S,KIAA0100:NM_014680:exon12:c.C1237T:p.P413S",D,D,D,T,D,T
chr17,45993985,45993985,C,T,P247302_S,SP2,Missense_Mutation,NM_003110,exon3,c.C548T,p.P183L,SNP,SNVindel,exonic,SP2,NA,nonsynonymous SNV,SP2:NM_003110:exon3:c.C548T:p.P183L,T,D,D,T,N,T
chr17,48940627,48940627,G,A,P247302_S,TOB1,Missense_Mutation,NM_001243885,exon2,c.C335T,p.P112L,SNP,SNVindel,exonic,TOB1,NA,nonsynonymous SNV,"TOB1:NM_001243885:exon2:c.C335T:p.P112L,TOB1:NM_005749:exon2:c.C752T:p.P251L,TOB1:NM_001243877:exon3:c.C752T:p.P251L",T,N,N,T,N,T
chr17,61498217,61498217,G,A,P247302_S,TANC2,Missense_Mutation,NM_025185,exon26,c.G4874A,p.S1625N,SNP,SNVindel,exonic,TANC2,NA,nonsynonymous SNV,TANC2:NM_025185:exon26:c.G4874A:p.S1625N,D,D,D,T,N,T
chr17,62487002,62487002,G,A,P247302_S,POLG2,Missense_Mutation,NM_007215,exon4,c.C880T,p.P294S,SNP,SNVindel,exonic,POLG2,NA,nonsynonymous SNV,POLG2:NM_007215:exon4:c.C880T:p.P294S,D,D,D,D,D,D
chr17,73228994,73228994,G,A,P247302_S,NUP85,Missense_Mutation,NM_001303276,exon14,c.G1307A,p.R436H,SNP,SNVindel,exonic,NUP85,NA,nonsynonymous SNV,"NUP85:NM_001303276:exon14:c.G1307A:p.R436H,NUP85:NM_001330472:exon14:c.G1310A:p.R437H,NUP85:NM_024844:exon15:c.G1445A:p.R482H",D,D,D,.,D,T
chr18,28736074,28736074,G,A,P247302_S,DSC1,Nonsense_Mutation,NM_004948,exon4,c.C403T,p.R135X,SNP,SNVindel,exonic,DSC1,NA,stopgain,"DSC1:NM_004948:exon4:c.C403T:p.R135X,DSC1:NM_024421:exon4:c.C403T:p.R135X",.,N,A,.,.,.
chr19,3273915,3273915,G,A,P247302_S,CELF5,Missense_Mutation,NM_001172673,exon3,c.G388A,p.G130R,SNP,SNVindel,exonic,CELF5,NA,nonsynonymous SNV,"CELF5:NM_001172673:exon3:c.G388A:p.G130R,CELF5:NM_021938:exon3:c.G388A:p.G130R",T,D,D,T,D,T
chr19,6731903,6731903,C,T,P247302_S,GPR108,Silent,NM_001080452,exon14,c.G1299A,p.K433K,SNP,SNVindel,exonic,GPR108,NA,synonymous SNV,"GPR108:NM_001080452:exon14:c.G1299A:p.K433K,GPR108:NM_020171:exon14:c.G573A:p.K191K",NA,NA,NA,NA,NA,NA
chr19,7550782,7550782,C,T,P247302_S,PEX11G,Missense_Mutation,NM_001270539,exon2,c.G191A,p.R64Q,SNP,SNVindel,exonic,PEX11G,NA,nonsynonymous SNV,"PEX11G:NM_001270539:exon2:c.G191A:p.R64Q,PEX11G:NM_080662:exon2:c.G191A:p.R64Q",D,D,D,T,D,D
chr19,35173717,35173717,T,A,P247302_S,ZNF302,Missense_Mutation,NM_001012320,exon3,c.T45A,p.H15Q,SNP,SNVindel,exonic,ZNF302,NA,nonsynonymous SNV,"ZNF302:NM_001012320:exon3:c.T45A:p.H15Q,ZNF302:NM_001289182:exon3:c.T45A:p.H15Q,ZNF302:NM_001289183:exon3:c.T45A:p.H15Q,ZNF302:NM_001289184:exon3:c.T45A:p.H15Q,ZNF302:NM_001289185:exon3:c.T45A:p.H15Q,ZNF302:NM_001289186:exon3:c.T45A:p.H15Q,ZNF302:NM_001289187:exon3:c.T45A:p.H15Q,ZNF302:NM_001289188:exon3:c.T45A:p.H15Q,ZNF302:NM_001289189:exon3:c.T45A:p.H15Q,ZNF302:NM_001289190:exon3:c.T45A:p.H15Q,ZNF302:NM_001289191:exon3:c.T45A:p.H15Q,ZNF302:NM_001289192:exon3:c.T45A:p.H15Q,ZNF302:NM_018443:exon3:c.T45A:p.H15Q,ZNF302:NM_018675:exon3:c.T45A:p.H15Q,ZNF302:NM_001289181:exon4:c.T177A:p.H59Q",T,.,N,T,N,T
chr19,36365684,36365684,G,T,P247302_S,APLP1,Silent,NM_001024807,exon10,c.G1257T,p.A419A,SNP,SNVindel,exonic,APLP1,NA,synonymous SNV,"APLP1:NM_001024807:exon10:c.G1257T:p.A419A,APLP1:NM_005166:exon10:c.G1257T:p.A419A",NA,NA,NA,NA,NA,NA
chr19,53855364,53855364,C,T,P247302_S,ZNF845,Missense_Mutation,NM_138374,exon4,c.C1436T,p.T479I,SNP,SNVindel,exonic,ZNF845,NA,nonsynonymous SNV,"ZNF845:NM_138374:exon4:c.C1436T:p.T479I,ZNF845:NM_001321522:exon5:c.C1436T:p.T479I,ZNF845:NM_001321523:exon5:c.C1436T:p.T479I,ZNF845:NM_001321524:exon5:c.C1436T:p.T479I",T,.,N,T,D,T
chr19,58017855,58017855,G,A,P247302_S,ZNF773,Missense_Mutation,NM_001304334,exon4,c.G389A,p.R130K,SNP,SNVindel,exonic,ZNF773,NA,nonsynonymous SNV,"ZNF773:NM_001304334:exon4:c.G389A:p.R130K,ZNF773:NM_198542:exon4:c.G392A:p.R131K",T,.,N,T,N,T
chr20,5294612,5294612,C,T,P247302_S,PROKR2,Missense_Mutation,NM_144773,exon2,c.G404A,p.R135H,SNP,SNVindel,exonic,PROKR2,NA,nonsynonymous SNV,PROKR2:NM_144773:exon2:c.G404A:p.R135H,D,D,D,T,D,T
chr20,5294904,5294904,C,T,P247302_S,PROKR2,Missense_Mutation,NM_144773,exon2,c.G112A,p.D38N,SNP,SNVindel,exonic,PROKR2,NA,nonsynonymous SNV,PROKR2:NM_144773:exon2:c.G112A:p.D38N,T,D,D,T,N,T
chr20,18576812,18576812,G,A,P247302_S,DTD1,Silent,NM_001318043,exon3,c.G297A,p.T99T,SNP,SNVindel,exonic,DTD1,NA,synonymous SNV,"DTD1:NM_001318043:exon3:c.G297A:p.T99T,DTD1:NM_080820:exon3:c.G297A:p.T99T",NA,NA,NA,NA,NA,NA
chr20,19679252,19679252,C,T,P247302_S,SLC24A3,Silent,NM_020689,exon15,c.C1647T,p.N549N,SNP,SNVindel,exonic,SLC24A3,NA,synonymous SNV,SLC24A3:NM_020689:exon15:c.C1647T:p.N549N,NA,NA,NA,NA,NA,NA
chr20,48273211,48273211,G,A,P247302_S,B4GALT5,Silent,NM_004776,exon2,c.C144T,p.A48A,SNP,SNVindel,exonic,B4GALT5,NA,synonymous SNV,B4GALT5:NM_004776:exon2:c.C144T:p.A48A,NA,NA,NA,NA,NA,NA
chr20,57767851,57767851,C,T,P247302_S,ZNF831,Missense_Mutation,NM_178457,exon1,c.C1777T,p.R593W,SNP,SNVindel,exonic,ZNF831,NA,nonsynonymous SNV,ZNF831:NM_178457:exon1:c.C1777T:p.R593W,D,.,N,T,N,T
chr20,62705663,62705663,G,A,P247302_S,RGS19,Missense_Mutation,NM_001039467,exon5,c.C296T,p.A99V,SNP,SNVindel,exonic,RGS19,NA,nonsynonymous SNV,"RGS19:NM_001039467:exon5:c.C296T:p.A99V,RGS19:NM_005873:exon5:c.C296T:p.A99V",T,D,D,T,D,T
chr21,38877655,38877655,C,T,P247302_S,DYRK1A,Nonsense_Mutation,NM_001347723,exon9,c.C1195T,p.R399X,SNP,SNVindel,exonic,DYRK1A,NA,stopgain,"DYRK1A:NM_001347723:exon9:c.C1195T:p.R399X,DYRK1A:NM_130436:exon9:c.C1282T:p.R428X,DYRK1A:NM_130438:exon9:c.C1309T:p.R437X,DYRK1A:NM_001347721:exon10:c.C1282T:p.R428X,DYRK1A:NM_001347722:exon10:c.C1282T:p.R428X,DYRK1A:NM_001396:exon10:c.C1309T:p.R437X,DYRK1A:NM_101395:exon11:c.C1309T:p.R437X",.,D,A,.,.,.
chr22,38120335,38120335,A,G,P247302_S,TRIOBP,Missense_Mutation,NM_001039141,exon7,c.A1772G,p.N591S,SNP,SNVindel,exonic,TRIOBP,NA,nonsynonymous SNV,TRIOBP:NM_001039141:exon7:c.A1772G:p.N591S,T,.,N,T,N,T
chrX,8434311,8434311,A,G,P247302_S,VCX3B,Missense_Mutation,NM_001001888,exon3,c.A628G,p.M210V,SNP,SNVindel,exonic,VCX3B,NA,nonsynonymous SNV,VCX3B:NM_001001888:exon3:c.A628G:p.M210V,T,.,N,T,N,T
chrX,47045016,47045016,C,T,P247302_S,RBM10,Missense_Mutation,NM_001204466,exon19,c.C2111T,p.S704L,SNP,SNVindel,exonic,RBM10,NA,nonsynonymous SNV,"RBM10:NM_001204466:exon19:c.C2111T:p.S704L,RBM10:NM_152856:exon19:c.C2108T:p.S703L,RBM10:NM_001204467:exon20:c.C2339T:p.S780L,RBM10:NM_001204468:exon20:c.C2537T:p.S846L,RBM10:NM_005676:exon20:c.C2342T:p.S781L",D,D,D,T,D,D
chrX,53225887,53225887,G,A,P247302_S,KDM5C,Missense_Mutation,NM_001146702,exon17,c.C2761T,p.H921Y,SNP,SNVindel,exonic,KDM5C,NA,nonsynonymous SNV,"KDM5C:NM_001146702:exon17:c.C2761T:p.H921Y,KDM5C:NM_001282622:exon19:c.C2959T:p.H987Y,KDM5C:NM_001353978:exon19:c.C2962T:p.H988Y,KDM5C:NM_001353979:exon19:c.C2959T:p.H987Y,KDM5C:NM_001353981:exon19:c.C2962T:p.H988Y,KDM5C:NM_001353982:exon19:c.C2959T:p.H987Y,KDM5C:NM_001353984:exon19:c.C2962T:p.H988Y,KDM5C:NM_004187:exon19:c.C2962T:p.H988Y",T,D,N,T,N,T
chrX,53576425,53576425,C,T,P247302_S,HUWE1,Missense_Mutation,NM_031407,exon67,c.G9530A,p.G3177E,SNP,SNVindel,exonic,HUWE1,NA,nonsynonymous SNV,HUWE1:NM_031407:exon67:c.G9530A:p.G3177E,T,D,D,T,D,T
chrX,101971137,101971137,C,T,P247302_S,ARMCX5-GPRASP2,Missense_Mutation,NM_001184875,exon4,c.C1340T,p.A447V,SNP,SNVindel,exonic,ARMCX5-GPRASP2;GPRASP2,NA,nonsynonymous SNV,"GPRASP2:NM_001184875:exon4:c.C1340T:p.A447V,GPRASP2:NM_138437:exon4:c.C1340T:p.A447V,GPRASP2:NM_001004051:exon5:c.C1340T:p.A447V,GPRASP2:NM_001184874:exon5:c.C1340T:p.A447V,GPRASP2:NM_001184876:exon5:c.C1340T:p.A447V,ARMCX5-GPRASP2:NM_001199818:exon7:c.C1340T:p.A447V",T,N,D,T,N,T
chrX,107381181,107381181,G,A,P247302_S,ATG4A,Missense_Mutation,NM_001321288,exon8,c.G464A,p.G155D,SNP,SNVindel,exonic,ATG4A,NA,nonsynonymous SNV,"ATG4A:NM_001321288:exon8:c.G464A:p.G155D,ATG4A:NM_052936:exon8:c.G695A:p.G232D,ATG4A:NM_001321287:exon9:c.G464A:p.G155D,ATG4A:NM_001321290:exon9:c.G179A:p.G60D,ATG4A:NM_178271:exon9:c.G464A:p.G155D",D,D,D,D,D,D
chrX,150908083,150908083,C,T,P247302_S,CNGA2,Nonsense_Mutation,NM_005140,exon4,c.C253T,p.R85X,SNP,SNVindel,exonic,CNGA2,NA,stopgain,CNGA2:NM_005140:exon4:c.C253T:p.R85X,.,N,A,.,.,.
chr1,1139542,1139542,G,A,P258689_F,TNFRSF18,Missense_Mutation,NM_004195,exon4,c.C473T,p.P158L,SNP,SNVindel,exonic,TNFRSF18,NA,nonsynonymous SNV,"TNFRSF18:NM_004195:exon4:c.C473T:p.P158L,TNFRSF18:NM_148902:exon4:c.C473T:p.P158L",T,.,N,T,N,T
chr1,16891340,16891340,T,A,P258689_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,17742999,17742999,C,T,P258689_F,RCC2,Missense_Mutation,NM_001136204,exon7,c.G1003A,p.V335M,SNP,SNVindel,exonic,RCC2,NA,nonsynonymous SNV,"RCC2:NM_001136204:exon7:c.G1003A:p.V335M,RCC2:NM_018715:exon8:c.G1003A:p.V335M",D,D,D,D,N,D
chr1,156018404,156018404,C,T,P258689_F,UBQLN4,Missense_Mutation,NM_001304342,exon5,c.G728A,p.R243Q,SNP,SNVindel,exonic,UBQLN4,NA,nonsynonymous SNV,"UBQLN4:NM_001304342:exon5:c.G728A:p.R243Q,UBQLN4:NM_020131:exon5:c.G788A:p.R263Q",D,N,D,T,D,T
chr2,20453700,20453700,C,T,P258689_F,PUM2,Silent,NM_001282790,exon18,c.G2709A,p.Q903Q,SNP,SNVindel,exonic,PUM2,NA,synonymous SNV,"PUM2:NM_001282790:exon18:c.G2709A:p.Q903Q,PUM2:NM_001282752:exon19:c.G2778A:p.Q926Q,PUM2:NM_001282791:exon19:c.G2541A:p.Q847Q,PUM2:NM_001352920:exon19:c.G2715A:p.Q905Q,PUM2:NM_001352923:exon19:c.G2715A:p.Q905Q,PUM2:NM_001352925:exon19:c.G2709A:p.Q903Q,PUM2:NM_001352926:exon19:c.G2709A:p.Q903Q,PUM2:NM_001352927:exon19:c.G2709A:p.Q903Q,PUM2:NM_001352928:exon19:c.G2709A:p.Q903Q,PUM2:NM_001352930:exon19:c.G2268A:p.Q756Q,PUM2:NM_001352917:exon20:c.G2952A:p.Q984Q,PUM2:NM_001352918:exon20:c.G2946A:p.Q982Q,PUM2:NM_001352919:exon20:c.G2946A:p.Q982Q,PUM2:NM_001352929:exon20:c.G2541A:p.Q847Q,PUM2:NM_015317:exon20:c.G2946A:p.Q982Q",NA,NA,NA,NA,NA,NA
chr2,74709686,74709686,C,T,P258689_F,CCDC142,Silent,NM_001365575,exon1,c.G279A,p.A93A,SNP,SNVindel,exonic,CCDC142,NA,synonymous SNV,"CCDC142:NM_001365575:exon1:c.G279A:p.A93A,CCDC142:NM_032779:exon1:c.G279A:p.A93A",NA,NA,NA,NA,NA,NA
chr2,112614429,112614429,G,A,P258689_F,ANAPC1,Nonsense_Mutation,NM_022662,exon12,c.C1393T,p.Q465X,SNP,SNVindel,exonic,ANAPC1,NA,stopgain,ANAPC1:NM_022662:exon12:c.C1393T:p.Q465X,.,U,P,.,.,.
chr2,218999803,218999803,C,T,P258689_F,CXCR2,Silent,NM_001557,exon3,c.C279T,p.A93A,SNP,SNVindel,exonic,CXCR2,NA,synonymous SNV,"CXCR2:NM_001557:exon3:c.C279T:p.A93A,CXCR2:NM_001168298:exon4:c.C279T:p.A93A",NA,NA,NA,NA,NA,NA
chr2,220412368,220412368,G,A,P258689_F,TMEM198,Missense_Mutation,NM_001005209,exon3,c.G307A,p.G103R,SNP,SNVindel,exonic,TMEM198,NA,nonsynonymous SNV,"TMEM198:NM_001005209:exon3:c.G307A:p.G103R,TMEM198:NM_001303098:exon4:c.G307A:p.G103R",D,D,D,.,D,D
chr3,25824867,25824867,T,G,P258689_F,NGLY1,Silent,NM_001145293,exon1,c.A15C,p.A5A,SNP,SNVindel,exonic,NGLY1,NA,synonymous SNV,"NGLY1:NM_001145293:exon1:c.A15C:p.A5A,NGLY1:NM_001145295:exon1:c.A15C:p.A5A,NGLY1:NM_018297:exon1:c.A15C:p.A5A",NA,NA,NA,NA,NA,NA
chr4,3769051,3769051,C,T,P258689_F,ADRA2C,Missense_Mutation,NM_000683,exon1,c.C718T,p.R240C,SNP,SNVindel,exonic,ADRA2C,NA,nonsynonymous SNV,ADRA2C:NM_000683:exon1:c.C718T:p.R240C,D,.,D,T,D,T
chr4,6302496,6302496,A,G,P258689_F,WFS1,Missense_Mutation,NM_001145853,exon8,c.A974G,p.N325S,SNP,SNVindel,exonic,WFS1,NA,nonsynonymous SNV,"WFS1:NM_001145853:exon8:c.A974G:p.N325S,WFS1:NM_006005:exon8:c.A974G:p.N325S",D,D,D,D,N,T
chr4,138442415,138442415,C,T,P258689_F,PCDH18,Missense_Mutation,NM_001300828,exon4,c.G3173A,p.S1058N,SNP,SNVindel,exonic,PCDH18,NA,nonsynonymous SNV,"PCDH18:NM_001300828:exon4:c.G3173A:p.S1058N,PCDH18:NM_019035:exon4:c.G3176A:p.S1059N",T,D,N,T,N,T
chr5,140176467,140176467,G,A,P258689_F,PCDHA2,Missense_Mutation,NM_018905,exon1,c.G1918A,p.A640T,SNP,SNVindel,exonic,PCDHA2,NA,nonsynonymous SNV,"PCDHA2:NM_018905:exon1:c.G1918A:p.A640T,PCDHA2:NM_031495:exon1:c.G1918A:p.A640T,PCDHA2:NM_031496:exon1:c.G1918A:p.A640T",T,N,D,T,N,T
chr5,178409992,178409992,G,A,P258689_F,GRM6,Silent,NM_000843,exon10,c.C2355T,p.I785I,SNP,SNVindel,exonic,GRM6,NA,synonymous SNV,GRM6:NM_000843:exon10:c.C2355T:p.I785I,NA,NA,NA,NA,NA,NA
chr6,36339304,36339304,C,T,P258689_F,ETV7,Missense_Mutation,NM_001207041,exon3,c.G14A,p.R5K,SNP,SNVindel,exonic,ETV7,NA,nonsynonymous SNV,"ETV7:NM_001207041:exon3:c.G14A:p.R5K,ETV7:NM_001207036:exon4:c.G302A:p.R101K,ETV7:NM_001207039:exon4:c.G302A:p.R101K,ETV7:NM_001207040:exon4:c.G224A:p.R75K,ETV7:NM_001207035:exon5:c.G467A:p.R156K,ETV7:NM_001207037:exon5:c.G290A:p.R97K,ETV7:NM_016135:exon5:c.G467A:p.R156K",T,U,N,T,N,T
chr6,168377029,168377029,G,A,P258689_F,HGC6.3,Missense_Mutation,NM_001129895,exon1,c.C304T,p.P102S,SNP,SNVindel,exonic,HGC6.3,NA,nonsynonymous SNV,HGC6.3:NM_001129895:exon1:c.C304T:p.P102S,NA,NA,NA,NA,NA,NA
chr7,1488296,1488296,G,A,P258689_F,MICALL2,Silent,NM_182924,exon3,c.C294T,p.Y98Y,SNP,SNVindel,exonic,MICALL2,NA,synonymous SNV,MICALL2:NM_182924:exon3:c.C294T:p.Y98Y,NA,NA,NA,NA,NA,NA
chr7,22196435,22196435,C,T,P258689_F,RAPGEF5,Silent,NM_001367600,exon6,c.G720A,p.T240T,SNP,SNVindel,exonic,RAPGEF5,NA,synonymous SNV,"RAPGEF5:NM_001367600:exon6:c.G720A:p.T240T,RAPGEF5:NM_001367601:exon6:c.G720A:p.T240T,RAPGEF5:NM_001367603:exon6:c.G720A:p.T240T,RAPGEF5:NM_001367602:exon9:c.G384A:p.T128T,RAPGEF5:NM_012294:exon16:c.G1629A:p.T543T",NA,NA,NA,NA,NA,NA
chr7,27788149,27788149,A,G,P258689_F,TAX1BP1,Silent,NM_001079864,exon2,c.A6G,p.T2T,SNP,SNVindel,exonic,TAX1BP1,NA,synonymous SNV,"TAX1BP1:NM_001079864:exon2:c.A6G:p.T2T,TAX1BP1:NM_001206901:exon2:c.A6G:p.T2T,TAX1BP1:NM_001362794:exon2:c.A6G:p.T2T,TAX1BP1:NM_001362795:exon2:c.A6G:p.T2T,TAX1BP1:NM_006024:exon2:c.A6G:p.T2T",NA,NA,NA,NA,NA,NA
chr8,71039170,71039170,A,T,P258689_F,NCOA2,Missense_Mutation,NM_001321711,exon18,c.T3587A,p.M1196K,SNP,SNVindel,exonic,NCOA2,NA,nonsynonymous SNV,"NCOA2:NM_001321711:exon18:c.T3587A:p.M1196K,NCOA2:NM_001321712:exon18:c.T3587A:p.M1196K,NCOA2:NM_001321713:exon18:c.T3332A:p.M1111K,NCOA2:NM_001321703:exon19:c.T3794A:p.M1265K,NCOA2:NM_001321707:exon19:c.T3794A:p.M1265K,NCOA2:NM_006540:exon19:c.T3794A:p.M1265K",D,D,D,T,D,T
chr8,95412590,95412590,T,C,P258689_F,RAD54B,Missense_Mutation,NM_001205263,exon5,c.A494G,p.Y165C,SNP,SNVindel,exonic,RAD54B,NA,nonsynonymous SNV,"RAD54B:NM_001205263:exon5:c.A494G:p.Y165C,RAD54B:NM_012415:exon7:c.A1046G:p.Y349C",D,D,D,D,D,D
chr8,125570048,125570048,A,C,P258689_F,MTSS1,Silent,NM_001363294,exon11,c.T1101G,p.L367L,SNP,SNVindel,exonic,MTSS1,NA,synonymous SNV,"MTSS1:NM_001363294:exon11:c.T1101G:p.L367L,MTSS1:NM_001363295:exon11:c.T1104G:p.L368L,MTSS1:NM_014751:exon11:c.T1104G:p.L368L,MTSS1:NM_001282971:exon12:c.T1116G:p.L372L",NA,NA,NA,NA,NA,NA
chr9,39103904,39103904,G,A,P258689_F,CNTNAP3,Silent,NM_033655,exon16,c.C2373T,p.F791F,SNP,SNVindel,exonic,CNTNAP3,NA,synonymous SNV,CNTNAP3:NM_033655:exon16:c.C2373T:p.F791F,NA,NA,NA,NA,NA,NA
chr9,117139740,117139740,C,T,P258689_F,AKNA,Missense_Mutation,NM_001317950,exon3,c.G347A,p.R116H,SNP,SNVindel,exonic,AKNA,NA,nonsynonymous SNV,"AKNA:NM_001317950:exon3:c.G347A:p.R116H,AKNA:NM_030767:exon3:c.G347A:p.R116H",T,N,N,T,N,T
chr9,131600032,131600032,G,A,P258689_F,KYAT1,Silent,NM_001122672,exon5,c.C349T,p.L117L,SNP,SNVindel,exonic,KYAT1,NA,synonymous SNV,"KYAT1:NM_001122672:exon5:c.C349T:p.L117L,KYAT1:NM_001122671:exon6:c.C499T:p.L167L,KYAT1:NM_001352989:exon6:c.C499T:p.L167L,KYAT1:NM_001352991:exon6:c.C499T:p.L167L,KYAT1:NM_001352993:exon6:c.C499T:p.L167L,KYAT1:NM_001352999:exon6:c.C325T:p.L109L,KYAT1:NM_004059:exon6:c.C499T:p.L167L,KYAT1:NM_001352988:exon7:c.C499T:p.L167L,KYAT1:NM_001352990:exon7:c.C499T:p.L167L,KYAT1:NM_001352992:exon7:c.C499T:p.L167L,KYAT1:NM_001352997:exon7:c.C601T:p.L201L,KYAT1:NM_001352998:exon7:c.C601T:p.L201L,KYAT1:NM_001287390:exon8:c.C781T:p.L261L,KYAT1:NM_001352994:exon8:c.C781T:p.L261L,KYAT1:NM_001352995:exon8:c.C778T:p.L260L,KYAT1:NM_001352996:exon8:c.C778T:p.L260L",NA,NA,NA,NA,NA,NA
chr9,139934277,139934277,C,A,P258689_F,NPDC1,Missense_Mutation,NM_015392,exon9,c.G925T,p.A309S,SNP,SNVindel,exonic,NPDC1,NA,nonsynonymous SNV,NPDC1:NM_015392:exon9:c.G925T:p.A309S,T,N,N,.,N,T
chr11,55433246,55433246,G,T,P258689_F,OR4C6,Missense_Mutation,NM_001004704,exon1,c.G604T,p.G202W,SNP,SNVindel,exonic,OR4C6,NA,nonsynonymous SNV,OR4C6:NM_001004704:exon1:c.G604T:p.G202W,D,N,N,T,D,T
chr11,99827606,99827606,T,C,P258689_F,CNTN5,Missense_Mutation,NM_175566,exon5,c.T520C,p.S174P,SNP,SNVindel,exonic,CNTN5,NA,nonsynonymous SNV,"CNTN5:NM_175566:exon5:c.T520C:p.S174P,CNTN5:NM_001243270:exon7:c.T742C:p.S248P,CNTN5:NM_001243271:exon8:c.T742C:p.S248P,CNTN5:NM_014361:exon8:c.T742C:p.S248P",D,D,D,T,D,T
chr12,32875562,32875562,G,A,P258689_F,DNM1L,Silent,NM_001278466,exon6,c.G465A,p.S155S,SNP,SNVindel,exonic,DNM1L,NA,synonymous SNV,"DNM1L:NM_001278466:exon6:c.G465A:p.S155S,DNM1L:NM_001278463:exon9:c.G1074A:p.S358S,DNM1L:NM_005690:exon9:c.G1074A:p.S358S,DNM1L:NM_012062:exon9:c.G1074A:p.S358S,DNM1L:NM_012063:exon9:c.G1074A:p.S358S,DNM1L:NM_001278464:exon10:c.G1113A:p.S371S,DNM1L:NM_001278465:exon10:c.G1113A:p.S371S,DNM1L:NM_001330380:exon10:c.G1113A:p.S371S",NA,NA,NA,NA,NA,NA
chr12,96641182,96641182,T,C,P258689_F,ELK3,Silent,NM_005230,exon3,c.T672C,p.S224S,SNP,SNVindel,exonic,ELK3,NA,synonymous SNV,ELK3:NM_005230:exon3:c.T672C:p.S224S,NA,NA,NA,NA,NA,NA
chr12,96974867,96974867,G,A,P258689_F,CFAP54,Missense_Mutation,NM_001306084,exon22,c.G3059A,p.R1020Q,SNP,SNVindel,exonic,CFAP54,NA,nonsynonymous SNV,"CFAP54:NM_001306084:exon22:c.G3059A:p.R1020Q,CFAP54:NM_001367885:exon22:c.G3059A:p.R1020Q",T,.,D,.,N,T
chr12,113444249,113444249,C,T,P258689_F,OAS2,Silent,NM_002535,exon8,c.C1500T,p.P500P,SNP,SNVindel,exonic,OAS2,NA,synonymous SNV,"OAS2:NM_002535:exon8:c.C1500T:p.P500P,OAS2:NM_016817:exon8:c.C1500T:p.P500P",NA,NA,NA,NA,NA,NA
chr12,119588853,119588853,G,A,P258689_F,SRRM4,Missense_Mutation,NM_194286,exon10,c.G1108A,p.E370K,SNP,SNVindel,exonic,SRRM4,NA,nonsynonymous SNV,SRRM4:NM_194286:exon10:c.G1108A:p.E370K,T,N,N,T,N,T
chr14,75535991,75535991,G,A,P258689_F,ACYP1,Missense_Mutation,NM_001302617,exon1,c.C4T,p.P2S,SNP,SNVindel,exonic,ACYP1,NA,nonsynonymous SNV,ACYP1:NM_001302617:exon1:c.C4T:p.P2S,D,.,N,.,N,T
chr15,43044773,43044773,C,T,P258689_F,TTBK2,Missense_Mutation,NM_173500,exon14,c.G2671A,p.G891S,SNP,SNVindel,exonic,TTBK2,NA,nonsynonymous SNV,TTBK2:NM_173500:exon14:c.G2671A:p.G891S,T,N,N,T,N,T
chr15,62176329,62176329,C,G,P258689_F,VPS13C,Missense_Mutation,NM_017684,exon66,c.G9352C,p.E3118Q,SNP,SNVindel,exonic,VPS13C,NA,nonsynonymous SNV,"VPS13C:NM_017684:exon66:c.G9352C:p.E3118Q,VPS13C:NM_018080:exon66:c.G9352C:p.E3118Q,VPS13C:NM_001018088:exon68:c.G9481C:p.E3161Q,VPS13C:NM_020821:exon68:c.G9481C:p.E3161Q",T,D,D,T,N,T
chr15,90631838,90631838,C,T,P258689_F,IDH2,Missense_Mutation,NM_001290114,exon2,c.G125A,p.R42K,SNP,SNVindel,exonic,IDH2,NA,nonsynonymous SNV,"IDH2:NM_001290114:exon2:c.G125A:p.R42K,IDH2:NM_001289910:exon4:c.G359A:p.R120K,IDH2:NM_002168:exon4:c.G515A:p.R172K",D,D,D,D,D,D
chr16,29394696,29394696,A,G,P258689_F,NPIPB11,Silent,NM_001310137,exon8,c.T1557C,p.S519S,SNP,SNVindel,exonic,NPIPB11,NA,synonymous SNV,NPIPB11:NM_001310137:exon8:c.T1557C:p.S519S,NA,NA,NA,NA,NA,NA
chr16,30034698,30034698,C,A,P258689_F,C16orf92,Missense_Mutation,NM_001109659,exon1,c.C37A,p.L13M,SNP,SNVindel,exonic,C16orf92,NA,nonsynonymous SNV,"C16orf92:NM_001109659:exon1:c.C37A:p.L13M,C16orf92:NM_001109660:exon1:c.C23A:p.A8D,C16orf92:NM_001353379:exon1:c.C37A:p.L13M",D,N,N,T,N,T
chr17,5358559,5358559,G,A,P258689_F,DHX33,Silent,NM_001199699,exon5,c.C549T,p.I183I,SNP,SNVindel,exonic,DHX33,NA,synonymous SNV,"DHX33:NM_001199699:exon5:c.C549T:p.I183I,DHX33:NM_020162:exon6:c.C1068T:p.I356I",NA,NA,NA,NA,NA,NA
chr17,7578242,7578242,C,A,P258689_F,TP53,Missense_Mutation,NM_001126115,exon2,c.G211T,p.V71L,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon2:c.G211T:p.V71L,TP53:NM_001126116:exon2:c.G211T:p.V71L,TP53:NM_001126117:exon2:c.G211T:p.V71L,TP53:NM_001276697:exon2:c.G130T:p.V44L,TP53:NM_001276698:exon2:c.G130T:p.V44L,TP53:NM_001276699:exon2:c.G130T:p.V44L,TP53:NM_001126118:exon5:c.G490T:p.V164L,TP53:NM_000546:exon6:c.G607T:p.V203L,TP53:NM_001126112:exon6:c.G607T:p.V203L,TP53:NM_001126113:exon6:c.G607T:p.V203L,TP53:NM_001126114:exon6:c.G607T:p.V203L,TP53:NM_001276695:exon6:c.G490T:p.V164L,TP53:NM_001276696:exon6:c.G490T:p.V164L,TP53:NM_001276760:exon6:c.G490T:p.V164L,TP53:NM_001276761:exon6:c.G490T:p.V164L",D,D,N,D,N,D
chr18,72997851,72997851,C,T,P258689_F,TSHZ1,Silent,NM_001308210,exon2,c.C489T,p.C163C,SNP,SNVindel,exonic,TSHZ1,NA,synonymous SNV,"TSHZ1:NM_001308210:exon2:c.C489T:p.C163C,TSHZ1:NM_005786:exon2:c.C354T:p.C118C",NA,NA,NA,NA,NA,NA
chr19,1621892,1621892,C,T,P258689_F,TCF3,Silent,NM_001136139,exon11,c.G900A,p.T300T,SNP,SNVindel,exonic,TCF3,NA,synonymous SNV,"TCF3:NM_001136139:exon11:c.G900A:p.T300T,TCF3:NM_001351778:exon11:c.G900A:p.T300T,TCF3:NM_001351779:exon11:c.G900A:p.T300T,TCF3:NM_003200:exon11:c.G900A:p.T300T",NA,NA,NA,NA,NA,NA
chr19,5893244,5893244,G,T,P258689_F,NDUFA11,Missense_Mutation,NM_001193375,exon4,c.C371A,p.P124H,SNP,SNVindel,exonic,NDUFA11,NA,nonsynonymous SNV,NDUFA11:NM_001193375:exon4:c.C371A:p.P124H,D,.,N,T,N,T
chr19,8550629,8550629,G,A,P258689_F,HNRNPM,Silent,NM_001297418,exon12,c.G912A,p.L304L,SNP,SNVindel,exonic,HNRNPM,NA,synonymous SNV,"HNRNPM:NM_001297418:exon12:c.G912A:p.L304L,HNRNPM:NM_005968:exon14:c.G1317A:p.L439L,HNRNPM:NM_031203:exon15:c.G1200A:p.L400L",NA,NA,NA,NA,NA,NA
chr19,43585334,43585334,T,G,P258689_F,PSG2,Silent,NM_031246,exon2,c.A129C,p.P43P,SNP,SNVindel,exonic,PSG2,NA,synonymous SNV,PSG2:NM_031246:exon2:c.A129C:p.P43P,NA,NA,NA,NA,NA,NA
chr19,49362214,49362214,G,A,P258689_F,PLEKHA4,Missense_Mutation,NM_001161354,exon8,c.C875T,p.S292F,SNP,SNVindel,exonic,PLEKHA4,NA,nonsynonymous SNV,"PLEKHA4:NM_001161354:exon8:c.C875T:p.S292F,PLEKHA4:NM_020904:exon8:c.C875T:p.S292F",D,N,D,T,N,T
chr19,49573831,49573831,C,T,P258689_F,KCNA7,Missense_Mutation,NM_031886,exon2,c.G860A,p.R287H,SNP,SNVindel,exonic,KCNA7,NA,nonsynonymous SNV,KCNA7:NM_031886:exon2:c.G860A:p.R287H,D,D,D,D,D,D
chr19,51274851,51274851,A,C,P258689_F,GPR32,Missense_Mutation,NM_001506,exon1,c.A994C,p.T332P,SNP,SNVindel,exonic,GPR32,NA,nonsynonymous SNV,GPR32:NM_001506:exon1:c.A994C:p.T332P,T,.,N,T,N,T
chr19,53958271,53958271,T,G,P258689_F,ZNF761,Missense_Mutation,NM_001289951,exon6,c.T510G,p.D170E,SNP,SNVindel,exonic,ZNF761;ZNF765-ZNF761,NA,nonsynonymous SNV,"ZNF761:NM_001289951:exon6:c.T510G:p.D170E,ZNF761:NM_001289952:exon6:c.T510G:p.D170E,ZNF761:NM_001008401:exon7:c.T510G:p.D170E,ZNF765-ZNF761:NM_001350496:exon14:c.T510G:p.D170E",.,.,.,.,.,.
chr19,54745682,54745682,C,T,P258689_F,LILRA6,Missense_Mutation,NM_001081450,exon4,c.G428A,p.R143Q,SNP,SNVindel,exonic,LILRA6;LILRB3,NA,nonsynonymous SNV,"LILRB3:NM_001081450:exon4:c.G428A:p.R143Q,LILRB3:NM_001320960:exon4:c.G428A:p.R143Q,LILRA6:NM_001360167:exon4:c.G428A:p.R143Q,LILRB3:NM_006864:exon4:c.G428A:p.R143Q,LILRA6:NM_024318:exon4:c.G419A:p.R140Q",NA,NA,NA,NA,NA,NA
chr19,55494508,55494508,G,A,P258689_F,NLRP2,Missense_Mutation,NM_001174082,exon5,c.G1376A,p.R459H,SNP,SNVindel,exonic,NLRP2,NA,nonsynonymous SNV,"NLRP2:NM_001174082:exon5:c.G1376A:p.R459H,NLRP2:NM_001174081:exon6:c.G1442A:p.R481H,NLRP2:NM_001348003:exon6:c.G1433A:p.R478H,NLRP2:NM_017852:exon6:c.G1442A:p.R481H,NLRP2:NM_001174083:exon7:c.G1373A:p.R458H",T,N,N,T,N,T
chr20,33328308,33328308,C,T,P258689_F,NCOA6,Missense_Mutation,NM_014071,exon11,c.G5752A,p.V1918I,SNP,SNVindel,exonic,NCOA6,NA,nonsynonymous SNV,"NCOA6:NM_014071:exon11:c.G5752A:p.V1918I,NCOA6:NM_001318240:exon12:c.G5752A:p.V1918I",D,N,D,T,N,T
chr20,58567447,58567447,A,G,P258689_F,CDH26,Missense_Mutation,NM_177980,exon10,c.A1298G,p.H433R,SNP,SNVindel,exonic,CDH26,NA,nonsynonymous SNV,CDH26:NM_177980:exon10:c.A1298G:p.H433R,T,N,N,T,N,T
chr22,26829959,26829959,G,A,P258689_F,ASPHD2,Silent,NM_020437,exon2,c.G378A,p.L126L,SNP,SNVindel,exonic,ASPHD2,NA,synonymous SNV,ASPHD2:NM_020437:exon2:c.G378A:p.L126L,NA,NA,NA,NA,NA,NA
chrX,9936006,9936006,G,A,P258689_F,CLDN34,Silent,NM_001195081,exon1,c.G609A,p.P203P,SNP,SNVindel,exonic,CLDN34,NA,synonymous SNV,CLDN34:NM_001195081:exon1:c.G609A:p.P203P,NA,NA,NA,NA,NA,NA
chrX,11135501,11135501,G,A,P258689_F,HCCS,Missense_Mutation,NM_001122608,exon4,c.G367A,p.E123K,SNP,SNVindel,exonic,HCCS,NA,nonsynonymous SNV,"HCCS:NM_001122608:exon4:c.G367A:p.E123K,HCCS:NM_001171991:exon4:c.G367A:p.E123K,HCCS:NM_005333:exon4:c.G367A:p.E123K",T,D,D,D,N,D
chrX,76875920,76875920,G,A,P258689_F,ATRX,Nonsense_Mutation,NM_138270,exon19,c.C5101T,p.R1701X,SNP,SNVindel,exonic,ATRX,NA,stopgain,"ATRX:NM_138270:exon19:c.C5101T:p.R1701X,ATRX:NM_000489:exon20:c.C5215T:p.R1739X",.,N,A,.,.,.
chrX,79278684,79278684,C,T,P258689_F,TBX22,Silent,NM_016954,exon2,c.C301T,p.L101L,SNP,SNVindel,exonic,TBX22,NA,synonymous SNV,"TBX22:NM_016954:exon2:c.C301T:p.L101L,TBX22:NM_001109878:exon3:c.C301T:p.L101L",NA,NA,NA,NA,NA,NA
chrX,100625053,100625053,T,C,P258689_F,BTK,Silent,NM_000061,exon5,c.A324G,p.E108E,SNP,SNVindel,exonic,BTK,NA,synonymous SNV,"BTK:NM_000061:exon5:c.A324G:p.E108E,BTK:NM_001287344:exon5:c.A426G:p.E142E,BTK:NM_001287345:exon6:c.A324G:p.E108E",NA,NA,NA,NA,NA,NA
chr1,44468305,44468305,G,A,P258689_S,SLC6A9,Missense_Mutation,NM_001328628,exon4,c.C542T,p.T181M,SNP,SNVindel,exonic,SLC6A9,NA,nonsynonymous SNV,"SLC6A9:NM_001328628:exon4:c.C542T:p.T181M,SLC6A9:NM_001328626:exon5:c.C404T:p.T135M,SLC6A9:NM_001328627:exon5:c.C674T:p.T225M,SLC6A9:NM_001328630:exon5:c.C404T:p.T135M,SLC6A9:NM_001261380:exon6:c.C749T:p.T250M,SLC6A9:NM_006934:exon6:c.C794T:p.T265M,SLC6A9:NM_001024845:exon7:c.C737T:p.T246M,SLC6A9:NM_001328629:exon7:c.C737T:p.T246M,SLC6A9:NM_201649:exon7:c.C956T:p.T319M",D,D,D,T,D,D
chr1,156642627,156642627,C,T,P258689_S,NES,Silent,NM_006617,exon4,c.G1353A,p.R451R,SNP,SNVindel,exonic,NES,NA,synonymous SNV,NES:NM_006617:exon4:c.G1353A:p.R451R,NA,NA,NA,NA,NA,NA
chr2,109371471,109371471,A,G,P258689_S,RANBP2,Silent,NM_006267,exon16,c.A2313G,p.A771A,SNP,SNVindel,exonic,RANBP2,NA,synonymous SNV,RANBP2:NM_006267:exon16:c.A2313G:p.A771A,NA,NA,NA,NA,NA,NA
chr2,131096751,131096751,C,T,P258689_S,CCDC115,Missense_Mutation,NM_001321118,exon5,c.G470A,p.R157Q,SNP,SNVindel,exonic,CCDC115,NA,nonsynonymous SNV,"CCDC115:NM_001321118:exon5:c.G470A:p.R157Q,CCDC115:NM_001321119:exon5:c.G341A:p.R114Q,CCDC115:NM_032357:exon5:c.G485A:p.R162Q",T,N,N,D,N,D
chr2,197987379,197987379,C,T,P258689_S,ANKRD44,Missense_Mutation,NM_001195144,exon7,c.G688A,p.V230M,SNP,SNVindel,exonic,ANKRD44,NA,nonsynonymous SNV,"ANKRD44:NM_001195144:exon7:c.G688A:p.V230M,ANKRD44:NM_001367495:exon7:c.G688A:p.V230M,ANKRD44:NM_001367496:exon7:c.G688A:p.V230M,ANKRD44:NM_001367497:exon7:c.G688A:p.V230M,ANKRD44:NM_153697:exon7:c.G688A:p.V230M",D,D,D,T,N,T
chr3,17051579,17051579,G,A,P258689_S,PLCL2,Silent,NM_015184,exon2,c.G363A,p.R121R,SNP,SNVindel,exonic,PLCL2,NA,synonymous SNV,PLCL2:NM_015184:exon2:c.G363A:p.R121R,NA,NA,NA,NA,NA,NA
chr3,47823180,47823180,C,T,P258689_S,SMARCC1,Silent,NM_003074,exon1,c.G108A,p.G36G,SNP,SNVindel,exonic,SMARCC1,NA,synonymous SNV,SMARCC1:NM_003074:exon1:c.G108A:p.G36G,NA,NA,NA,NA,NA,NA
chr3,151131015,151131015,G,A,P258689_S,MED12L,Missense_Mutation,NM_053002,exon40,c.G6124A,p.V2042M,SNP,SNVindel,exonic,MED12L,NA,nonsynonymous SNV,MED12L:NM_053002:exon40:c.G6124A:p.V2042M,D,N,D,T,N,T
chr4,9213756,9213756,G,A,P258689_S,USP17L10,Silent,NM_001256852,exon1,c.G1374A,p.T458T,SNP,SNVindel,exonic,USP17L10,NA,synonymous SNV,USP17L10:NM_001256852:exon1:c.G1374A:p.T458T,NA,NA,NA,NA,NA,NA
chr4,190874255,190874255,A,T,P258689_S,FRG1,Missense_Mutation,NM_004477,exon4,c.A292T,p.T98S,SNP,SNVindel,exonic,FRG1,NA,nonsynonymous SNV,FRG1:NM_004477:exon4:c.A292T:p.T98S,D,D,D,T,D,T
chr5,137848578,137848578,G,A,P258689_S,ETF1,Missense_Mutation,NM_001282185,exon5,c.C565T,p.R189W,SNP,SNVindel,exonic,ETF1,NA,nonsynonymous SNV,"ETF1:NM_001282185:exon5:c.C565T:p.R189W,ETF1:NM_001256302:exon6:c.C508T:p.R170W,ETF1:NM_001291974:exon6:c.C508T:p.R170W,ETF1:NM_001364160:exon6:c.C508T:p.R170W,ETF1:NM_004730:exon6:c.C607T:p.R203W,ETF1:NM_001291975:exon7:c.C508T:p.R170W",D,D,D,T,D,T
chr6,26124607,26124607,G,A,P258689_S,HIST1H2AC,Silent,NM_003512,exon1,c.G147A,p.P49P,SNP,SNVindel,exonic,HIST1H2AC,NA,synonymous SNV,HIST1H2AC:NM_003512:exon1:c.G147A:p.P49P,NA,NA,NA,NA,NA,NA
chr7,100854898,100854898,G,A,P258689_S,PLOD3,Silent,NM_001084,exon12,c.C1332T,p.Y444Y,SNP,SNVindel,exonic,PLOD3,NA,synonymous SNV,PLOD3:NM_001084:exon12:c.C1332T:p.Y444Y,NA,NA,NA,NA,NA,NA
chr8,7830565,7830565,T,A,P258689_S,USP17L8,Missense_Mutation,NM_001256872,exon1,c.A211T,p.S71C,SNP,SNVindel,exonic,USP17L8,NA,nonsynonymous SNV,USP17L8:NM_001256872:exon1:c.A211T:p.S71C,.,.,.,.,.,.
chr8,7830590,7830590,A,G,P258689_S,USP17L8,Silent,NM_001256872,exon1,c.T186C,p.L62L,SNP,SNVindel,exonic,USP17L8,NA,synonymous SNV,USP17L8:NM_001256872:exon1:c.T186C:p.L62L,NA,NA,NA,NA,NA,NA
chr8,145009402,145009402,G,A,P258689_S,PLEC,Missense_Mutation,NM_201378,exon7,c.C640T,p.R214W,SNP,SNVindel,exonic,PLEC,NA,nonsynonymous SNV,"PLEC:NM_201378:exon7:c.C640T:p.R214W,PLEC:NM_201379:exon7:c.C616T:p.R206W,PLEC:NM_201380:exon7:c.C1093T:p.R365W,PLEC:NM_201381:exon7:c.C586T:p.R196W,PLEC:NM_201382:exon7:c.C682T:p.R228W,PLEC:NM_201383:exon7:c.C694T:p.R232W,PLEC:NM_201384:exon7:c.C682T:p.R228W,PLEC:NM_000445:exon8:c.C763T:p.R255W",D,U,D,D,D,D
chr8,146033227,146033227,G,A,P258689_S,ZNF517,Missense_Mutation,NM_001317936,exon5,c.G905A,p.R302H,SNP,SNVindel,exonic,ZNF517,NA,nonsynonymous SNV,"ZNF517:NM_001317936:exon5:c.G905A:p.R302H,ZNF517:NM_213605:exon5:c.G926A:p.R309H",D,.,N,T,D,T
chr9,39103904,39103904,G,A,P258689_S,CNTNAP3,Silent,NM_033655,exon16,c.C2373T,p.F791F,SNP,SNVindel,exonic,CNTNAP3,NA,synonymous SNV,CNTNAP3:NM_033655:exon16:c.C2373T:p.F791F,NA,NA,NA,NA,NA,NA
chr10,69299322,69299322,G,A,P258689_S,CTNNA3,Missense_Mutation,NM_001127384,exon4,c.C398T,p.T133M,SNP,SNVindel,exonic,CTNNA3,NA,nonsynonymous SNV,"CTNNA3:NM_001127384:exon4:c.C398T:p.T133M,CTNNA3:NM_013266:exon4:c.C398T:p.T133M,CTNNA3:NM_001291133:exon5:c.C434T:p.T145M",D,D,D,T,D,T
chr11,96074881,96074881,C,T,P258689_S,MAML2,Missense_Mutation,NM_032427,exon1,c.G179A,p.R60Q,SNP,SNVindel,exonic,MAML2,NA,nonsynonymous SNV,MAML2:NM_032427:exon1:c.G179A:p.R60Q,T,.,D,T,N,T
chr13,25478088,25478088,C,T,P258689_S,CENPJ,Missense_Mutation,NM_018451,exon8,c.G2801A,p.R934Q,SNP,SNVindel,exonic,CENPJ,NA,nonsynonymous SNV,CENPJ:NM_018451:exon8:c.G2801A:p.R934Q,T,N,N,T,N,T
chr16,8891786,8891786,C,T,P258689_S,PMM2,Missense_Mutation,NM_000303,exon1,c.C47T,p.T16I,SNP,SNVindel,exonic,PMM2,NA,nonsynonymous SNV,PMM2:NM_000303:exon1:c.C47T:p.T16I,D,D,D,D,D,D
chr16,29394696,29394696,A,G,P258689_S,NPIPB11,Silent,NM_001310137,exon8,c.T1557C,p.S519S,SNP,SNVindel,exonic,NPIPB11,NA,synonymous SNV,NPIPB11:NM_001310137:exon8:c.T1557C:p.S519S,NA,NA,NA,NA,NA,NA
chr17,38821333,38821333,G,A,P258689_S,KRT222,Missense_Mutation,NM_152349,exon1,c.C19T,p.L7F,SNP,SNVindel,exonic,KRT222,NA,nonsynonymous SNV,KRT222:NM_152349:exon1:c.C19T:p.L7F,D,U,D,D,D,D
chr17,39432066,39432066,G,T,P258689_S,KRTAP9-7,Silent,NM_001277332,exon1,c.G117T,p.V39V,SNP,SNVindel,exonic,KRTAP9-7,NA,synonymous SNV,KRTAP9-7:NM_001277332:exon1:c.G117T:p.V39V,NA,NA,NA,NA,NA,NA
chr18,21492714,21492714,G,A,P258689_S,LAMA3,Missense_Mutation,NM_001127718,exon18,c.G2203A,p.E735K,SNP,SNVindel,exonic,LAMA3,NA,nonsynonymous SNV,"LAMA3:NM_001127718:exon18:c.G2203A:p.E735K,LAMA3:NM_000227:exon19:c.G2371A:p.E791K,LAMA3:NM_001127717:exon55:c.G7030A:p.E2344K,LAMA3:NM_198129:exon56:c.G7198A:p.E2400K",D,.,D,T,N,T
chr18,47093980,47093980,G,A,P258689_S,LIPG,Missense_Mutation,NM_001308006,exon3,c.G448A,p.D150N,SNP,SNVindel,exonic,LIPG,NA,nonsynonymous SNV,"LIPG:NM_001308006:exon3:c.G448A:p.D150N,LIPG:NM_006033:exon3:c.G448A:p.D150N",T,N,N,D,N,T
chr19,3527647,3527647,C,T,P258689_S,FZR1,Silent,NM_001136198,exon6,c.C489T,p.S163S,SNP,SNVindel,exonic,FZR1,NA,synonymous SNV,"FZR1:NM_001136198:exon6:c.C489T:p.S163S,FZR1:NM_016263:exon7:c.C489T:p.S163S",NA,NA,NA,NA,NA,NA
chr19,36037710,36037710,G,A,P258689_S,TMEM147,Missense_Mutation,NM_001242597,exon3,c.G197A,p.R66H,SNP,SNVindel,exonic,TMEM147,NA,nonsynonymous SNV,"TMEM147:NM_001242597:exon3:c.G197A:p.R66H,TMEM147:NM_032635:exon4:c.G344A:p.R115H",D,D,D,T,D,T
chr19,50805015,50805015,G,A,P258689_S,MYH14,Missense_Mutation,NM_024729,exon38,c.G5444A,p.R1815Q,SNP,SNVindel,exonic,MYH14,NA,nonsynonymous SNV,"MYH14:NM_024729:exon38:c.G5444A:p.R1815Q,MYH14:NM_001077186:exon39:c.G5468A:p.R1823Q,MYH14:NM_001145809:exon40:c.G5567A:p.R1856Q",T,.,N,D,N,T
chr19,51274851,51274851,A,C,P258689_S,GPR32,Missense_Mutation,NM_001506,exon1,c.A994C,p.T332P,SNP,SNVindel,exonic,GPR32,NA,nonsynonymous SNV,GPR32:NM_001506:exon1:c.A994C:p.T332P,T,.,N,T,N,T
chr19,54745682,54745682,C,T,P258689_S,LILRA6,Missense_Mutation,NM_001081450,exon4,c.G428A,p.R143Q,SNP,SNVindel,exonic,LILRA6;LILRB3,NA,nonsynonymous SNV,"LILRB3:NM_001081450:exon4:c.G428A:p.R143Q,LILRB3:NM_001320960:exon4:c.G428A:p.R143Q,LILRA6:NM_001360167:exon4:c.G428A:p.R143Q,LILRB3:NM_006864:exon4:c.G428A:p.R143Q,LILRA6:NM_024318:exon4:c.G419A:p.R140Q",NA,NA,NA,NA,NA,NA
chr20,33337349,33337349,C,T,P258689_S,NCOA6,Silent,NM_001242539,exon7,c.G2649A,p.T883T,SNP,SNVindel,exonic,NCOA6,NA,synonymous SNV,"NCOA6:NM_001242539:exon7:c.G2649A:p.T883T,NCOA6:NM_014071:exon9:c.G2649A:p.T883T,NCOA6:NM_001318240:exon10:c.G2649A:p.T883T",NA,NA,NA,NA,NA,NA
chr21,45655221,45655221,C,T,P258689_S,ICOSLG,Missense_Mutation,NM_001283051,exon3,c.G280A,p.V94M,SNP,SNVindel,exonic,ICOSLG;LOC102723996,NA,nonsynonymous SNV,"ICOSLG:NM_001283051:exon3:c.G280A:p.V94M,ICOSLG:NM_001283050:exon4:c.G631A:p.V211M,ICOSLG:NM_001283052:exon4:c.G376A:p.V126M,LOC102723996:NM_001363770:exon4:c.G631A:p.V211M,ICOSLG:NM_001365759:exon4:c.G550A:p.V184M,ICOSLG:NM_015259:exon4:c.G631A:p.V211M",T,N,N,T,N,T
chr21,46020542,46020542,T,C,P258689_S,KRTAP10-7,Silent,NM_198689,exon1,c.T21C,p.S7S,SNP,SNVindel,exonic,KRTAP10-7,NA,synonymous SNV,KRTAP10-7:NM_198689:exon1:c.T21C:p.S7S,NA,NA,NA,NA,NA,NA
chr22,51042596,51042596,C,T,P258689_S,MAPK8IP2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MAPK8IP2,NA,unknown,UNKNOWN,D,D,D,T,N,T
chr1,1288693,1288693,C,T,P270959_F,MXRA8,Silent,NM_001282585,exon10,c.G1341A,p.P447P,SNP,SNVindel,exonic,MXRA8,NA,synonymous SNV,MXRA8:NM_001282585:exon10:c.G1341A:p.P447P,NA,NA,NA,NA,NA,NA
chr1,6680153,6680153,C,T,P270959_F,PHF13,Silent,NM_153812,exon3,c.C432T,p.A144A,SNP,SNVindel,exonic,PHF13,NA,synonymous SNV,PHF13:NM_153812:exon3:c.C432T:p.A144A,NA,NA,NA,NA,NA,NA
chr1,6680228,6680228,G,A,P270959_F,PHF13,Silent,NM_153812,exon3,c.G507A,p.S169S,SNP,SNVindel,exonic,PHF13,NA,synonymous SNV,PHF13:NM_153812:exon3:c.G507A:p.S169S,NA,NA,NA,NA,NA,NA
chr1,7724467,7724467,C,T,P270959_F,CAMTA1,Silent,NM_001349608,exon8,c.C1770T,p.D590D,SNP,SNVindel,exonic,CAMTA1,NA,synonymous SNV,"CAMTA1:NM_001349608:exon8:c.C1770T:p.D590D,CAMTA1:NM_001349612:exon8:c.C1770T:p.D590D,CAMTA1:NM_001349609:exon9:c.C1860T:p.D620D,CAMTA1:NM_001349610:exon9:c.C1860T:p.D620D,CAMTA1:NM_015215:exon9:c.C1860T:p.D620D",NA,NA,NA,NA,NA,NA
chr1,9322374,9322374,G,A,P270959_F,H6PD,Silent,NM_001282587,exon4,c.G1035A,p.T345T,SNP,SNVindel,exonic,H6PD,NA,synonymous SNV,"H6PD:NM_001282587:exon4:c.G1035A:p.T345T,H6PD:NM_004285:exon4:c.G1002A:p.T334T",NA,NA,NA,NA,NA,NA
chr1,9416289,9416289,C,T,P270959_F,SPSB1,Silent,NM_025106,exon2,c.C339T,p.A113A,SNP,SNVindel,exonic,SPSB1,NA,synonymous SNV,SPSB1:NM_025106:exon2:c.C339T:p.A113A,NA,NA,NA,NA,NA,NA
chr1,11562063,11562063,G,A,P270959_F,DISP3,Silent,NM_020780,exon2,c.G1014A,p.S338S,SNP,SNVindel,exonic,DISP3,NA,synonymous SNV,DISP3:NM_020780:exon2:c.G1014A:p.S338S,NA,NA,NA,NA,NA,NA
chr1,12248871,12248871,G,A,P270959_F,TNFRSF1B,Missense_Mutation,NM_001066,exon2,c.G97A,p.A33T,SNP,SNVindel,exonic,TNFRSF1B,NA,nonsynonymous SNV,TNFRSF1B:NM_001066:exon2:c.G97A:p.A33T,T,N,N,D,N,T
chr1,18704816,18704816,C,T,P270959_F,IGSF21,Missense_Mutation,NM_032880,exon10,c.C1400T,p.T467M,SNP,SNVindel,exonic,IGSF21,NA,nonsynonymous SNV,IGSF21:NM_032880:exon10:c.C1400T:p.T467M,D,D,D,T,N,T
chr1,24779951,24779951,C,T,P270959_F,NIPAL3,Silent,NM_001322860,exon4,c.C111T,p.N37N,SNP,SNVindel,exonic,NIPAL3,NA,synonymous SNV,"NIPAL3:NM_001322860:exon4:c.C111T:p.N37N,NIPAL3:NM_001322861:exon4:c.C111T:p.N37N,NIPAL3:NM_001322859:exon5:c.C111T:p.N37N,NIPAL3:NM_001322864:exon6:c.C591T:p.N197N,NIPAL3:NM_001322854:exon7:c.C594T:p.N198N,NIPAL3:NM_001322857:exon7:c.C594T:p.N198N,NIPAL3:NM_001322863:exon7:c.C348T:p.N116N,NIPAL3:NM_001322865:exon7:c.C594T:p.N198N,NIPAL3:NM_001322866:exon7:c.C567T:p.N189N,NIPAL3:NM_001322868:exon7:c.C594T:p.N198N,NIPAL3:NM_020448:exon7:c.C594T:p.N198N,NIPAL3:NM_001322855:exon8:c.C594T:p.N198N,NIPAL3:NM_001322856:exon8:c.C594T:p.N198N,NIPAL3:NM_001322858:exon8:c.C111T:p.N37N,NIPAL3:NM_001322862:exon8:c.C348T:p.N116N,NIPAL3:NM_001330409:exon8:c.C594T:p.N198N",NA,NA,NA,NA,NA,NA
chr1,24779986,24779986,C,T,P270959_F,NIPAL3,Missense_Mutation,NM_001322860,exon4,c.C146T,p.A49V,SNP,SNVindel,exonic,NIPAL3,NA,nonsynonymous SNV,"NIPAL3:NM_001322860:exon4:c.C146T:p.A49V,NIPAL3:NM_001322861:exon4:c.C146T:p.A49V,NIPAL3:NM_001322859:exon5:c.C146T:p.A49V,NIPAL3:NM_001322864:exon6:c.C626T:p.A209V,NIPAL3:NM_001322854:exon7:c.C629T:p.A210V,NIPAL3:NM_001322857:exon7:c.C629T:p.A210V,NIPAL3:NM_001322863:exon7:c.C383T:p.A128V,NIPAL3:NM_001322865:exon7:c.C629T:p.A210V,NIPAL3:NM_001322866:exon7:c.C602T:p.A201V,NIPAL3:NM_001322868:exon7:c.C629T:p.A210V,NIPAL3:NM_020448:exon7:c.C629T:p.A210V,NIPAL3:NM_001322855:exon8:c.C629T:p.A210V,NIPAL3:NM_001322856:exon8:c.C629T:p.A210V,NIPAL3:NM_001322858:exon8:c.C146T:p.A49V,NIPAL3:NM_001322862:exon8:c.C383T:p.A128V,NIPAL3:NM_001330409:exon8:c.C629T:p.A210V",D,D,D,D,D,D
chr1,24861758,24861758,C,T,P270959_F,RCAN3,Silent,NM_001251980,exon4,c.C687T,p.C229C,SNP,SNVindel,exonic,RCAN3,NA,synonymous SNV,"RCAN3:NM_001251980:exon4:c.C687T:p.C229C,RCAN3:NM_001251981:exon4:c.C543T:p.C181C,RCAN3:NM_001251983:exon4:c.C342T:p.C114C,RCAN3:NM_001251984:exon4:c.C342T:p.C114C,RCAN3:NM_001251977:exon5:c.C717T:p.C239C,RCAN3:NM_001251978:exon5:c.C717T:p.C239C,RCAN3:NM_001251979:exon5:c.C717T:p.C239C,RCAN3:NM_013441:exon5:c.C717T:p.C239C",NA,NA,NA,NA,NA,NA
chr1,27089741,27089741,C,T,P270959_F,ARID1A,Silent,NM_006015,exon8,c.C2697T,p.V899V,SNP,SNVindel,exonic,ARID1A,NA,synonymous SNV,"ARID1A:NM_006015:exon8:c.C2697T:p.V899V,ARID1A:NM_139135:exon8:c.C2697T:p.V899V",NA,NA,NA,NA,NA,NA
chr1,27618738,27618738,C,T,P270959_F,WDTC1,Missense_Mutation,NM_001276252,exon7,c.C512T,p.S171L,SNP,SNVindel,exonic,WDTC1,NA,nonsynonymous SNV,"WDTC1:NM_001276252:exon7:c.C512T:p.S171L,WDTC1:NM_015023:exon7:c.C512T:p.S171L",D,D,D,T,N,T
chr1,28476561,28476561,C,T,P270959_F,PTAFR,Silent,NM_000952,exon2,c.G972A,p.T324T,SNP,SNVindel,exonic,PTAFR,NA,synonymous SNV,"PTAFR:NM_000952:exon2:c.G972A:p.T324T,PTAFR:NM_001164722:exon2:c.G972A:p.T324T,PTAFR:NM_001164721:exon3:c.G972A:p.T324T,PTAFR:NM_001164723:exon3:c.G972A:p.T324T",NA,NA,NA,NA,NA,NA
chr1,32658016,32658016,G,A,P270959_F,TXLNA,Silent,NM_175852,exon7,c.G1068A,p.Q356Q,SNP,SNVindel,exonic,TXLNA,NA,synonymous SNV,TXLNA:NM_175852:exon7:c.G1068A:p.Q356Q,NA,NA,NA,NA,NA,NA
chr1,32745576,32745576,C,T,P270959_F,LCK,Silent,NM_001330468,exon10,c.C1023T,p.N341N,SNP,SNVindel,exonic,LCK,NA,synonymous SNV,"LCK:NM_001330468:exon10:c.C1023T:p.N341N,LCK:NM_001042771:exon11:c.C1176T:p.N392N,LCK:NM_005356:exon11:c.C1176T:p.N392N",NA,NA,NA,NA,NA,NA
chr1,33820732,33820732,G,A,P270959_F,PHC2,Missense_Mutation,NM_001330488,exon6,c.C1012T,p.R338W,SNP,SNVindel,exonic,PHC2,NA,nonsynonymous SNV,"PHC2:NM_001330488:exon6:c.C1012T:p.R338W,PHC2:NM_198040:exon7:c.C1099T:p.R367W",D,N,D,T,N,T
chr1,34209004,34209004,C,T,P270959_F,CSMD2,Missense_Mutation,NM_001281956,exon14,c.G2050A,p.V684I,SNP,SNVindel,exonic,CSMD2,NA,nonsynonymous SNV,"CSMD2:NM_001281956:exon14:c.G2050A:p.V684I,CSMD2:NM_052896:exon14:c.G1930A:p.V644I",T,N,N,T,N,T
chr1,36028231,36028231,T,A,P270959_F,NCDN,Missense_Mutation,NM_001014841,exon4,c.T1331A,p.L444H,SNP,SNVindel,exonic,NCDN,NA,nonsynonymous SNV,"NCDN:NM_001014841:exon4:c.T1331A:p.L444H,NCDN:NM_014284:exon4:c.T1382A:p.L461H,NCDN:NM_001014839:exon5:c.T1382A:p.L461H",D,D,D,T,D,T
chr1,36367134,36367134,G,A,P270959_F,AGO1,Silent,NM_001317123,exon9,c.G855A,p.S285S,SNP,SNVindel,exonic,AGO1,NA,synonymous SNV,"AGO1:NM_001317123:exon9:c.G855A:p.S285S,AGO1:NM_012199:exon9:c.G1080A:p.S360S",NA,NA,NA,NA,NA,NA
chr1,36553608,36553608,C,T,P270959_F,TEKT2,Missense_Mutation,NM_014466,exon10,c.C1114T,p.R372W,SNP,SNVindel,exonic,TEKT2,NA,nonsynonymous SNV,TEKT2:NM_014466:exon10:c.C1114T:p.R372W,D,N,D,T,D,T
chr1,38082233,38082233,C,T,P270959_F,RSPO1,Missense_Mutation,NM_001242908,exon4,c.G209A,p.R70H,SNP,SNVindel,exonic,RSPO1,NA,nonsynonymous SNV,"RSPO1:NM_001242908:exon4:c.G209A:p.R70H,RSPO1:NM_001242909:exon4:c.G128A:p.R43H,RSPO1:NM_001242910:exon4:c.G209A:p.R70H,RSPO1:NM_001038633:exon5:c.G209A:p.R70H",D,D,D,T,D,D
chr1,51753908,51753908,C,T,P270959_F,TTC39A,Missense_Mutation,NM_001297667,exon6,c.G386A,p.R129Q,SNP,SNVindel,exonic,TTC39A,NA,nonsynonymous SNV,"TTC39A:NM_001297667:exon6:c.G386A:p.R129Q,TTC39A:NM_001297666:exon7:c.G587A:p.R196Q,TTC39A:NM_001080494:exon18:c.G1658A:p.R553Q,TTC39A:NM_001144832:exon18:c.G1667A:p.R556Q,TTC39A:NM_001297663:exon18:c.G1655A:p.R552Q,TTC39A:NM_001297664:exon18:c.G1574A:p.R525Q,TTC39A:NM_001297665:exon18:c.G1763A:p.R588Q",D,D,D,T,D,D
chr1,51771694,51771694,C,T,P270959_F,TTC39A,Silent,NM_001080494,exon7,c.G546A,p.P182P,SNP,SNVindel,exonic,TTC39A,NA,synonymous SNV,"TTC39A:NM_001080494:exon7:c.G546A:p.P182P,TTC39A:NM_001144832:exon7:c.G555A:p.P185P,TTC39A:NM_001297662:exon7:c.G648A:p.P216P,TTC39A:NM_001297663:exon7:c.G543A:p.P181P,TTC39A:NM_001297664:exon7:c.G462A:p.P154P,TTC39A:NM_001297665:exon7:c.G651A:p.P217P",NA,NA,NA,NA,NA,NA
chr1,52275032,52275032,C,T,P270959_F,NRDC,Missense_Mutation,NM_001101662,exon17,c.G1945A,p.E649K,SNP,SNVindel,exonic,NRDC,NA,nonsynonymous SNV,"NRDC:NM_001101662:exon17:c.G1945A:p.E649K,NRDC:NM_001242361:exon19:c.G1753A:p.E585K,NRDC:NM_002525:exon19:c.G2149A:p.E717K",D,N,D,T,N,T
chr1,53153792,53153792,G,A,P270959_F,COA7,Missense_Mutation,NM_023077,exon3,c.C296T,p.A99V,SNP,SNVindel,exonic,COA7,NA,nonsynonymous SNV,COA7:NM_023077:exon3:c.C296T:p.A99V,T,D,D,T,D,T
chr1,63063399,63063399,A,G,P270959_F,ANGPTL3,Silent,NM_014495,exon1,c.A162G,p.G54G,SNP,SNVindel,exonic,ANGPTL3,NA,synonymous SNV,ANGPTL3:NM_014495:exon1:c.A162G:p.G54G,NA,NA,NA,NA,NA,NA
chr1,70501844,70501844,A,G,P270959_F,LRRC7,Missense_Mutation,NM_001350216,exon19,c.A2039G,p.E680G,SNP,SNVindel,exonic,LRRC7,NA,nonsynonymous SNV,"LRRC7:NM_001350216:exon19:c.A2039G:p.E680G,LRRC7:NM_001366838:exon19:c.A2036G:p.E679G,LRRC7:NM_001370785:exon19:c.A2036G:p.E679G,LRRC7:NM_001330635:exon20:c.A1937G:p.E646G,LRRC7:NM_001366839:exon20:c.A1937G:p.E646G,LRRC7:NM_001366841:exon20:c.A1937G:p.E646G",D,D,D,T,D,T
chr1,82408978,82408978,C,T,P270959_F,ADGRL2,Silent,NM_001297705,exon5,c.C723T,p.G241G,SNP,SNVindel,exonic,ADGRL2,NA,synonymous SNV,"ADGRL2:NM_001297705:exon5:c.C723T:p.G241G,ADGRL2:NM_001297706:exon5:c.C723T:p.G241G,ADGRL2:NM_001330645:exon5:c.C723T:p.G241G,ADGRL2:NM_001350699:exon5:c.C723T:p.G241G,ADGRL2:NM_001366009:exon5:c.C723T:p.G241G,ADGRL2:NM_012302:exon5:c.C723T:p.G241G,ADGRL2:NM_001297704:exon6:c.C723T:p.G241G,ADGRL2:NM_001350698:exon6:c.C735T:p.G245G,ADGRL2:NM_001366002:exon6:c.C723T:p.G241G,ADGRL2:NM_001366005:exon6:c.C735T:p.G245G,ADGRL2:NM_001366006:exon6:c.C735T:p.G245G,ADGRL2:NM_001366007:exon6:c.C735T:p.G245G,ADGRL2:NM_001366008:exon9:c.C735T:p.G245G,ADGRL2:NM_001366003:exon11:c.C735T:p.G245G,ADGRL2:NM_001366004:exon11:c.C735T:p.G245G",NA,NA,NA,NA,NA,NA
chr1,89299067,89299067,G,T,P270959_F,PKN2,Missense_Mutation,NM_001320707,exon21,c.G2747T,p.R916M,SNP,SNVindel,exonic,PKN2,NA,nonsynonymous SNV,"PKN2:NM_001320707:exon21:c.G2747T:p.R916M,PKN2:NM_001320708:exon21:c.G2420T:p.R807M,PKN2:NM_001320709:exon22:c.G2843T:p.R948M,PKN2:NM_006256:exon22:c.G2891T:p.R964M",D,U,D,T,D,T
chr1,91404172,91404172,G,A,P270959_F,ZNF644,Silent,NM_201269,exon3,c.C2739T,p.N913N,SNP,SNVindel,exonic,ZNF644,NA,synonymous SNV,ZNF644:NM_201269:exon3:c.C2739T:p.N913N,NA,NA,NA,NA,NA,NA
chr1,91406281,91406281,A,G,P270959_F,ZNF644,Silent,NM_201269,exon3,c.T630C,p.S210S,SNP,SNVindel,exonic,ZNF644,NA,synonymous SNV,ZNF644:NM_201269:exon3:c.T630C:p.S210S,NA,NA,NA,NA,NA,NA
chr1,93645632,93645632,G,T,P270959_F,TMED5,Silent,NM_001167830,exon1,c.C168A,p.A56A,SNP,SNVindel,exonic,TMED5,NA,synonymous SNV,"TMED5:NM_001167830:exon1:c.C168A:p.A56A,TMED5:NM_016040:exon1:c.C168A:p.A56A",NA,NA,NA,NA,NA,NA
chr1,100696384,100696384,C,T,P270959_F,DBT,Missense_Mutation,NM_001918,exon4,c.G338A,p.R113H,SNP,SNVindel,exonic,DBT,NA,nonsynonymous SNV,DBT:NM_001918:exon4:c.G338A:p.R113H,D,D,D,T,D,T
chr1,110170835,110170835,A,G,P270959_F,AMPD2,Missense_Mutation,NM_001308170,exon9,c.A1148G,p.E383G,SNP,SNVindel,exonic,AMPD2,NA,nonsynonymous SNV,"AMPD2:NM_001308170:exon9:c.A1148G:p.E383G,AMPD2:NM_001257361:exon10:c.A1019G:p.E340G,AMPD2:NM_004037:exon10:c.A1211G:p.E404G,AMPD2:NM_139156:exon10:c.A1130G:p.E377G,AMPD2:NM_001368809:exon11:c.A1211G:p.E404G",D,D,D,D,D,D
chr1,115130017,115130017,G,A,P270959_F,DENND2C,Missense_Mutation,NM_198459,exon17,c.C2575T,p.R859W,SNP,SNVindel,exonic,DENND2C,NA,nonsynonymous SNV,"DENND2C:NM_198459:exon17:c.C2575T:p.R859W,DENND2C:NM_001256404:exon20:c.C2746T:p.R916W",D,D,D,T,D,T
chr1,116675825,116675825,C,T,P270959_F,MAB21L3,Missense_Mutation,NM_152367,exon7,c.C928T,p.R310C,SNP,SNVindel,exonic,MAB21L3,NA,nonsynonymous SNV,MAB21L3:NM_152367:exon7:c.C928T:p.R310C,D,D,D,T,D,T
chr1,120461161,120461161,G,A,P270959_F,NOTCH2,Nonsense_Mutation,NM_024408,exon32,c.C5797T,p.R1933X,SNP,SNVindel,exonic,NOTCH2,NA,stopgain,NOTCH2:NM_024408:exon32:c.C5797T:p.R1933X,.,U,A,.,.,.
chr1,146758149,146758149,C,T,P270959_F,CHD1L,Silent,NM_001256338,exon12,c.C1581T,p.A527A,SNP,SNVindel,exonic,CHD1L,NA,synonymous SNV,"CHD1L:NM_001256338:exon12:c.C1581T:p.A527A,CHD1L:NM_001256337:exon13:c.C1350T:p.A450A,CHD1L:NM_001348454:exon13:c.C1737T:p.A579A,CHD1L:NM_001348456:exon13:c.C1350T:p.A450A,CHD1L:NM_001348463:exon14:c.C1350T:p.A450A,CHD1L:NM_001348466:exon14:c.C1350T:p.A450A,CHD1L:NM_001348459:exon16:c.C1350T:p.A450A,CHD1L:NM_001348461:exon16:c.C1350T:p.A450A,CHD1L:NM_001348464:exon16:c.C1350T:p.A450A,CHD1L:NM_001256336:exon17:c.C1893T:p.A631A,CHD1L:NM_001348453:exon17:c.C1854T:p.A618A,CHD1L:NM_001348455:exon17:c.C1704T:p.A568A,CHD1L:NM_001348457:exon17:c.C1350T:p.A450A,CHD1L:NM_001348458:exon17:c.C1350T:p.A450A,CHD1L:NM_001348460:exon17:c.C1350T:p.A450A,CHD1L:NM_001348465:exon17:c.C1350T:p.A450A,CHD1L:NM_001348452:exon18:c.C1977T:p.A659A,CHD1L:NM_001348462:exon18:c.C1350T:p.A450A,CHD1L:NM_004284:exon18:c.C2193T:p.A731A,CHD1L:NM_024568:exon18:c.C1854T:p.A618A,CHD1L:NM_001348451:exon19:c.C1977T:p.A659A",NA,NA,NA,NA,NA,NA
chr1,151260174,151260174,G,A,P270959_F,ZNF687,Silent,NM_001304764,exon2,c.G1407A,p.S469S,SNP,SNVindel,exonic,ZNF687,NA,synonymous SNV,"ZNF687:NM_001304764:exon2:c.G1407A:p.S469S,ZNF687:NM_020832:exon2:c.G1407A:p.S469S,ZNF687:NM_001304763:exon3:c.G1407A:p.S469S",NA,NA,NA,NA,NA,NA
chr1,152323975,152323975,C,A,P270959_F,FLG2,Missense_Mutation,NM_001014342,exon3,c.G6287T,p.R2096M,SNP,SNVindel,exonic,FLG2,NA,nonsynonymous SNV,FLG2:NM_001014342:exon3:c.G6287T:p.R2096M,T,.,N,T,N,T
chr1,153914577,153914577,C,T,P270959_F,DENND4B,Missense_Mutation,NM_001367466,exon6,c.G856A,p.A286T,SNP,SNVindel,exonic,DENND4B,NA,nonsynonymous SNV,"DENND4B:NM_001367466:exon6:c.G856A:p.A286T,DENND4B:NM_014856:exon6:c.G823A:p.A275T",D,.,D,T,D,T
chr1,153932975,153932975,C,T,P270959_F,SLC39A1,Missense_Mutation,NM_001271957,exon4,c.G574A,p.V192M,SNP,SNVindel,exonic,SLC39A1,NA,nonsynonymous SNV,"SLC39A1:NM_001271957:exon4:c.G574A:p.V192M,SLC39A1:NM_001271958:exon4:c.G574A:p.V192M,SLC39A1:NM_001271959:exon4:c.G574A:p.V192M,SLC39A1:NM_001271960:exon5:c.G574A:p.V192M,SLC39A1:NM_014437:exon5:c.G574A:p.V192M",D,D,D,T,N,T
chr1,155408738,155408738,A,C,P270959_F,ASH1L,Silent,NM_001366177,exon5,c.T5208G,p.A1736A,SNP,SNVindel,exonic,ASH1L,NA,synonymous SNV,"ASH1L:NM_001366177:exon5:c.T5208G:p.A1736A,ASH1L:NM_018489:exon5:c.T5208G:p.A1736A",NA,NA,NA,NA,NA,NA
chr1,155899133,155899133,G,A,P270959_F,KHDC4,Nonsense_Mutation,NM_014949,exon4,c.C418T,p.R140X,SNP,SNVindel,exonic,KHDC4,NA,stopgain,KHDC4:NM_014949:exon4:c.C418T:p.R140X,.,D,A,.,.,.
chr1,158152887,158152887,G,A,P270959_F,CD1D,Missense_Mutation,NM_001766,exon5,c.G827A,p.G276D,SNP,SNVindel,exonic,CD1D,NA,nonsynonymous SNV,CD1D:NM_001766:exon5:c.G827A:p.G276D,T,N,N,T,D,T
chr1,160012317,160012317,C,T,P270959_F,KCNJ10,Silent,NM_002241,exon2,c.G6A,p.T2T,SNP,SNVindel,exonic,KCNJ10,NA,synonymous SNV,KCNJ10:NM_002241:exon2:c.G6A:p.T2T,NA,NA,NA,NA,NA,NA
chr1,161010422,161010422,C,T,P270959_F,USF1,Missense_Mutation,NM_001276373,exon9,c.G658A,p.V220M,SNP,SNVindel,exonic,USF1,NA,nonsynonymous SNV,"USF1:NM_001276373:exon9:c.G658A:p.V220M,USF1:NM_007122:exon9:c.G658A:p.V220M,USF1:NM_207005:exon9:c.G481A:p.V161M",T,D,D,D,N,D
chr1,162337001,162337001,G,A,P270959_F,NOS1AP,Missense_Mutation,NM_001126060,exon2,c.G380A,p.R127H,SNP,SNVindel,exonic,NOS1AP,NA,nonsynonymous SNV,"NOS1AP:NM_001126060:exon2:c.G380A:p.R127H,NOS1AP:NM_001164757:exon10:c.G1250A:p.R417H,NOS1AP:NM_014697:exon10:c.G1265A:p.R422H",T,N,N,T,N,T
chr1,173772147,173772147,C,T,P270959_F,CENPL,Missense_Mutation,NM_001171182,exon4,c.G917A,p.R306H,SNP,SNVindel,exonic,CENPL,NA,nonsynonymous SNV,"CENPL:NM_001171182:exon4:c.G917A:p.R306H,CENPL:NM_033319:exon5:c.G917A:p.R306H,CENPL:NM_001127181:exon6:c.G1055A:p.R352H",D,D,D,T,N,T
chr1,175048612,175048612,C,T,P270959_F,TNN,Missense_Mutation,NM_022093,exon3,c.C553T,p.R185C,SNP,SNVindel,exonic,TNN,NA,nonsynonymous SNV,TNN:NM_022093:exon3:c.C553T:p.R185C,D,N,N,T,D,T
chr1,175348729,175348729,A,G,P270959_F,TNR,Missense_Mutation,NM_001328635,exon9,c.T923C,p.V308A,SNP,SNVindel,exonic,TNR,NA,nonsynonymous SNV,"TNR:NM_001328635:exon9:c.T923C:p.V308A,TNR:NM_003285:exon9:c.T1922C:p.V641A",D,N,D,T,D,T
chr1,176681009,176681009,T,C,P270959_F,PAPPA2,Silent,NM_020318,exon12,c.T3690C,p.R1230R,SNP,SNVindel,exonic,PAPPA2,NA,synonymous SNV,PAPPA2:NM_020318:exon12:c.T3690C:p.R1230R,NA,NA,NA,NA,NA,NA
chr1,179057167,179057167,G,A,P270959_F,TOR3A,Missense_Mutation,NM_022371,exon4,c.G761A,p.R254H,SNP,SNVindel,exonic,TOR3A,NA,nonsynonymous SNV,TOR3A:NM_022371:exon4:c.G761A:p.R254H,T,N,N,T,N,T
chr1,181680149,181680149,G,A,P270959_F,CACNA1E,Missense_Mutation,NM_000721,exon8,c.G1115A,p.R372H,SNP,SNVindel,exonic,CACNA1E,NA,nonsynonymous SNV,"CACNA1E:NM_000721:exon8:c.G1115A:p.R372H,CACNA1E:NM_001205293:exon8:c.G1115A:p.R372H,CACNA1E:NM_001205294:exon8:c.G1115A:p.R372H",D,N,D,D,D,D
chr1,181695289,181695289,C,A,P270959_F,CACNA1E,Missense_Mutation,NM_000721,exon18,c.C2231A,p.P744H,SNP,SNVindel,exonic,CACNA1E,NA,nonsynonymous SNV,"CACNA1E:NM_000721:exon18:c.C2231A:p.P744H,CACNA1E:NM_001205293:exon18:c.C2231A:p.P744H,CACNA1E:NM_001205294:exon18:c.C2231A:p.P744H",T,N,D,D,D,T
chr1,182353640,182353640,C,T,P270959_F,GLUL,Missense_Mutation,NM_001033044,exon7,c.G1022A,p.R341H,SNP,SNVindel,exonic,GLUL,NA,nonsynonymous SNV,"GLUL:NM_001033044:exon7:c.G1022A:p.R341H,GLUL:NM_001033056:exon7:c.G1022A:p.R341H,GLUL:NM_002065:exon8:c.G1022A:p.R341H",D,N,D,D,D,D
chr1,182353844,182353844,G,A,P270959_F,GLUL,Missense_Mutation,NM_001033044,exon7,c.C818T,p.A273V,SNP,SNVindel,exonic,GLUL,NA,nonsynonymous SNV,"GLUL:NM_001033044:exon7:c.C818T:p.A273V,GLUL:NM_001033056:exon7:c.C818T:p.A273V,GLUL:NM_002065:exon8:c.C818T:p.A273V",D,N,D,D,D,D
chr1,206821196,206821196,G,T,P270959_F,DYRK3,Missense_Mutation,NM_003582,exon3,c.G653T,p.G218V,SNP,SNVindel,exonic,DYRK3,NA,nonsynonymous SNV,"DYRK3:NM_003582:exon3:c.G653T:p.G218V,DYRK3:NM_001004023:exon4:c.G593T:p.G198V",D,D,D,D,D,D
chr1,207520798,207520798,T,G,P270959_F,CD55,Missense_Mutation,NM_001300903,exon10,c.T1088G,p.V363G,SNP,SNVindel,exonic,CD55,NA,nonsynonymous SNV,CD55:NM_001300903:exon10:c.T1088G:p.V363G,NA,NA,NA,NA,NA,NA
chr1,208215569,208215569,G,T,P270959_F,PLXNA2,Missense_Mutation,NM_025179,exon22,c.C4160A,p.A1387D,SNP,SNVindel,exonic,PLXNA2,NA,nonsynonymous SNV,PLXNA2:NM_025179:exon22:c.C4160A:p.A1387D,D,D,D,T,D,T
chr1,209791834,209791834,G,A,P270959_F,LAMB3,Missense_Mutation,NM_001017402,exon18,c.C2872T,p.R958C,SNP,SNVindel,exonic,LAMB3,NA,nonsynonymous SNV,"LAMB3:NM_001017402:exon18:c.C2872T:p.R958C,LAMB3:NM_000228:exon19:c.C2872T:p.R958C,LAMB3:NM_001127641:exon19:c.C2872T:p.R958C",D,N,N,T,D,T
chr1,220808856,220808856,C,T,P270959_F,MARK1,Missense_Mutation,NM_001286128,exon11,c.C1195T,p.R399C,SNP,SNVindel,exonic,MARK1,NA,nonsynonymous SNV,"MARK1:NM_001286128:exon11:c.C1195T:p.R399C,MARK1:NM_001286124:exon12:c.C1261T:p.R421C,MARK1:NM_001286126:exon12:c.C1261T:p.R421C,MARK1:NM_018650:exon12:c.C1261T:p.R421C",D,D,D,T,D,D
chr1,223408439,223408439,C,T,P270959_F,SUSD4,Missense_Mutation,NM_001037175,exon6,c.G728A,p.G243E,SNP,SNVindel,exonic,SUSD4,NA,nonsynonymous SNV,SUSD4:NM_001037175:exon6:c.G728A:p.G243E,D,.,N,T,N,T
chr1,228112049,228112049,G,A,P270959_F,WNT9A,Silent,NM_003395,exon3,c.C405T,p.H135H,SNP,SNVindel,exonic,WNT9A,NA,synonymous SNV,WNT9A:NM_003395:exon3:c.C405T:p.H135H,NA,NA,NA,NA,NA,NA
chr1,228475531,228475531,T,C,P270959_F,OBSCN,Silent,NM_001098623,exon36,c.T9681C,p.G3227G,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon36:c.T9681C:p.G3227G,OBSCN:NM_052843:exon36:c.T9681C:p.G3227G,OBSCN:NM_001271223:exon41:c.T10968C:p.G3656G",NA,NA,NA,NA,NA,NA
chr1,228556527,228556527,C,T,P270959_F,OBSCN,Silent,NM_001098623,exon89,c.C19872T,p.Y6624Y,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon89:c.C19872T:p.Y6624Y,OBSCN:NM_001271223:exon100:c.C22743T:p.Y7581Y",NA,NA,NA,NA,NA,NA
chr1,229772285,229772285,C,T,P270959_F,URB2,Missense_Mutation,NM_001314021,exon4,c.C1925T,p.S642L,SNP,SNVindel,exonic,URB2,NA,nonsynonymous SNV,"URB2:NM_001314021:exon4:c.C1925T:p.S642L,URB2:NM_014777:exon4:c.C1925T:p.S642L",T,N,N,T,N,T
chr1,248084511,248084511,T,C,P270959_F,OR2T8,Silent,NM_001005522,exon1,c.T192C,p.L64L,SNP,SNVindel,exonic,OR2T8,NA,synonymous SNV,OR2T8:NM_001005522:exon1:c.T192C:p.L64L,NA,NA,NA,NA,NA,NA
chr1,248737657,248737657,A,G,P270959_F,OR2T34,Silent,NM_001001821,exon1,c.T402C,p.P134P,SNP,SNVindel,exonic,OR2T34,NA,synonymous SNV,OR2T34:NM_001001821:exon1:c.T402C:p.P134P,NA,NA,NA,NA,NA,NA
chr2,10560259,10560259,C,T,P270959_F,HPCAL1,Nonsense_Mutation,NM_001258357,exon3,c.C376T,p.Q126X,SNP,SNVindel,exonic,HPCAL1,NA,stopgain,"HPCAL1:NM_001258357:exon3:c.C376T:p.Q126X,HPCAL1:NM_001258358:exon3:c.C376T:p.Q126X,HPCAL1:NM_001258359:exon3:c.C376T:p.Q126X,HPCAL1:NM_002149:exon3:c.C376T:p.Q126X,HPCAL1:NM_134421:exon4:c.C376T:p.Q126X",.,D,A,.,.,.
chr2,17836517,17836517,C,T,P270959_F,VSNL1,Silent,NM_001366805,exon3,c.C216T,p.G72G,SNP,SNVindel,exonic,VSNL1,NA,synonymous SNV,"VSNL1:NM_001366805:exon3:c.C216T:p.G72G,VSNL1:NM_001366803:exon4:c.C432T:p.G144G,VSNL1:NM_001366806:exon4:c.C432T:p.G144G,VSNL1:NM_003385:exon4:c.C432T:p.G144G",NA,NA,NA,NA,NA,NA
chr2,20818765,20818765,G,A,P270959_F,HS1BP3,Silent,NM_022460,exon7,c.C1161T,p.A387A,SNP,SNVindel,exonic,HS1BP3,NA,synonymous SNV,HS1BP3:NM_022460:exon7:c.C1161T:p.A387A,NA,NA,NA,NA,NA,NA
chr2,21230763,21230763,C,T,P270959_F,APOB,Missense_Mutation,NM_000384,exon26,c.G8977A,p.D2993N,SNP,SNVindel,exonic,APOB,NA,nonsynonymous SNV,APOB:NM_000384:exon26:c.G8977A:p.D2993N,D,N,N,T,N,T
chr2,26407123,26407123,G,A,P270959_F,GAREM2,Missense_Mutation,NM_001191033,exon3,c.G175A,p.E59K,SNP,SNVindel,exonic,GAREM2,NA,nonsynonymous SNV,"GAREM2:NM_001191033:exon3:c.G175A:p.E59K,GAREM2:NM_001168241:exon4:c.G406A:p.E136K",D,D,D,T,D,T
chr2,27315223,27315223,G,A,P270959_F,KHK,Missense_Mutation,NM_000221,exon2,c.G116A,p.R39H,SNP,SNVindel,exonic,KHK,NA,nonsynonymous SNV,"KHK:NM_000221:exon2:c.G116A:p.R39H,KHK:NM_006488:exon2:c.G116A:p.R39H",D,D,D,T,D,D
chr2,27463197,27463197,G,A,P270959_F,CAD,Missense_Mutation,NM_001306079,exon34,c.G5372A,p.R1791Q,SNP,SNVindel,exonic,CAD,NA,nonsynonymous SNV,"CAD:NM_001306079:exon34:c.G5372A:p.R1791Q,CAD:NM_004341:exon35:c.G5561A:p.R1854Q",T,D,D,D,N,D
chr2,29551246,29551246,C,T,P270959_F,ALK,Missense_Mutation,NM_004304,exon6,c.G1384A,p.A462T,SNP,SNVindel,exonic,ALK,NA,nonsynonymous SNV,ALK:NM_004304:exon6:c.G1384A:p.A462T,T,N,N,D,N,T
chr2,32664597,32664597,G,A,P270959_F,BIRC6,Missense_Mutation,NM_016252,exon16,c.G3653A,p.R1218H,SNP,SNVindel,exonic,BIRC6,NA,nonsynonymous SNV,BIRC6:NM_016252:exon16:c.G3653A:p.R1218H,D,D,D,T,D,D
chr2,37468831,37468831,G,T,P270959_F,NDUFAF7,Missense_Mutation,NM_001350025,exon4,c.G438T,p.K146N,SNP,SNVindel,exonic,NDUFAF7,NA,nonsynonymous SNV,"NDUFAF7:NM_001350025:exon4:c.G438T:p.K146N,NDUFAF7:NM_001350024:exon5:c.G519T:p.K173N,NDUFAF7:NM_144736:exon5:c.G519T:p.K173N",T,N,N,T,N,T
chr2,55253344,55253344,C,T,P270959_F,RTN4,Missense_Mutation,NM_001321859,exon3,c.G1273A,p.V425M,SNP,SNVindel,exonic,RTN4,NA,nonsynonymous SNV,"RTN4:NM_001321859:exon3:c.G1273A:p.V425M,RTN4:NM_001321860:exon3:c.G1273A:p.V425M,RTN4:NM_001321861:exon3:c.G1273A:p.V425M,RTN4:NM_001321862:exon3:c.G1273A:p.V425M,RTN4:NM_001321863:exon3:c.G1273A:p.V425M,RTN4:NM_020532:exon3:c.G1891A:p.V631M,RTN4:NM_207521:exon3:c.G1273A:p.V425M,RTN4:NM_001321904:exon4:c.G1273A:p.V425M",D,N,N,T,N,T
chr2,74042530,74042530,G,A,P270959_F,C2orf78,Missense_Mutation,NM_001080474,exon3,c.G1180A,p.D394N,SNP,SNVindel,exonic,C2orf78,NA,nonsynonymous SNV,"C2orf78:NM_001080474:exon3:c.G1180A:p.D394N,C2orf78:NM_001353344:exon3:c.G1180A:p.D394N",D,N,D,.,D,D
chr2,76975983,76975983,G,A,P270959_F,LRRTM4,Silent,NM_001330370,exon3,c.C1614T,p.Y538Y,SNP,SNVindel,exonic,LRRTM4,NA,synonymous SNV,"LRRTM4:NM_001330370:exon3:c.C1614T:p.Y538Y,LRRTM4:NM_001134745:exon4:c.C1611T:p.Y537Y,LRRTM4:NM_001282924:exon4:c.C1611T:p.Y537Y",NA,NA,NA,NA,NA,NA
chr2,88409984,88409984,G,A,P270959_F,SMYD1,Missense_Mutation,NM_001330364,exon9,c.G1387A,p.E463K,SNP,SNVindel,exonic,SMYD1,NA,nonsynonymous SNV,"SMYD1:NM_001330364:exon9:c.G1387A:p.E463K,SMYD1:NM_198274:exon10:c.G1426A:p.E476K",D,D,D,T,N,T
chr2,88482262,88482262,G,A,P270959_F,THNSL2,Missense_Mutation,NM_001244678,exon4,c.G373A,p.V125M,SNP,SNVindel,exonic,THNSL2,NA,nonsynonymous SNV,"THNSL2:NM_001244678:exon4:c.G373A:p.V125M,THNSL2:NM_018271:exon5:c.G847A:p.V283M,THNSL2:NM_001244676:exon6:c.G847A:p.V283M",D,N,N,D,N,D
chr2,96970563,96970563,C,T,P270959_F,SNRNP200,Missense_Mutation,NM_014014,exon2,c.G89A,p.R30Q,SNP,SNVindel,exonic,SNRNP200,NA,nonsynonymous SNV,SNRNP200:NM_014014:exon2:c.G89A:p.R30Q,D,D,D,T,N,T
chr2,97278652,97278652,G,A,P270959_F,KANSL3,Missense_Mutation,NM_001349262,exon5,c.C131T,p.P44L,SNP,SNVindel,exonic,KANSL3,NA,nonsynonymous SNV,"KANSL3:NM_001349262:exon5:c.C131T:p.P44L,KANSL3:NM_001349260:exon6:c.C197T:p.P66L,KANSL3:NM_001115016:exon7:c.C815T:p.P272L,KANSL3:NM_001349256:exon7:c.C815T:p.P272L,KANSL3:NM_001349257:exon7:c.C815T:p.P272L,KANSL3:NM_001349258:exon7:c.C815T:p.P272L,KANSL3:NM_001349259:exon7:c.C554T:p.P185L,KANSL3:NM_001349261:exon7:c.C131T:p.P44L",D,D,D,T,D,T
chr2,105859267,105859267,G,A,P270959_F,GPR45,Missense_Mutation,NM_007227,exon1,c.G952A,p.V318I,SNP,SNVindel,exonic,GPR45,NA,nonsynonymous SNV,GPR45:NM_007227:exon1:c.G952A:p.V318I,T,D,D,T,N,T
chr2,106002866,106002866,G,A,P270959_F,FHL2,Silent,NM_001318894,exon2,c.C108T,p.F36F,SNP,SNVindel,exonic,FHL2,NA,synonymous SNV,"FHL2:NM_001318894:exon2:c.C108T:p.F36F,FHL2:NM_001318896:exon2:c.C108T:p.F36F,FHL2:NM_001450:exon2:c.C108T:p.F36F,FHL2:NM_201557:exon2:c.C108T:p.F36F,FHL2:NM_001039492:exon3:c.C108T:p.F36F,FHL2:NM_001318895:exon3:c.C108T:p.F36F,FHL2:NM_201555:exon4:c.C108T:p.F36F",NA,NA,NA,NA,NA,NA
chr2,106782522,106782522,C,T,P270959_F,UXS1,Missense_Mutation,NM_001253875,exon2,c.G112A,p.V38I,SNP,SNVindel,exonic,UXS1,NA,nonsynonymous SNV,"UXS1:NM_001253875:exon2:c.G112A:p.V38I,UXS1:NM_025076:exon2:c.G112A:p.V38I",T,N,D,D,N,T
chr2,111907683,111907683,C,T,P270959_F,BCL2L11,Missense_Mutation,NM_001204106,exon3,c.C187T,p.R63W,SNP,SNVindel,exonic,BCL2L11,NA,nonsynonymous SNV,"BCL2L11:NM_001204106:exon3:c.C187T:p.R63W,BCL2L11:NM_001204107:exon3:c.C187T:p.R63W,BCL2L11:NM_001204108:exon3:c.C457T:p.R153W,BCL2L11:NM_001204110:exon3:c.C187T:p.R63W,BCL2L11:NM_138621:exon3:c.C457T:p.R153W,BCL2L11:NM_138622:exon3:c.C457T:p.R153W,BCL2L11:NM_207003:exon3:c.C187T:p.R63W,BCL2L11:NM_006538:exon4:c.C277T:p.R93W,BCL2L11:NM_138623:exon4:c.C277T:p.R93W",D,D,D,.,D,T
chr2,120918529,120918529,C,T,P270959_F,EPB41L5,Silent,NM_001184937,exon21,c.C1866T,p.A622A,SNP,SNVindel,exonic,EPB41L5,NA,synonymous SNV,"EPB41L5:NM_001184937:exon21:c.C1866T:p.A622A,EPB41L5:NM_001330310:exon21:c.C1866T:p.A622A,EPB41L5:NM_020909:exon21:c.C1866T:p.A622A",NA,NA,NA,NA,NA,NA
chr2,128412405,128412405,G,A,P270959_F,LIMS2,Silent,NM_001161403,exon3,c.C237T,p.C79C,SNP,SNVindel,exonic,LIMS2,NA,synonymous SNV,"LIMS2:NM_001161403:exon3:c.C237T:p.C79C,LIMS2:NM_001161404:exon3:c.C222T:p.C74C,LIMS2:NM_017980:exon3:c.C309T:p.C103C,LIMS2:NM_001136037:exon4:c.C303T:p.C101C",NA,NA,NA,NA,NA,NA
chr2,128886632,128886632,G,A,P270959_F,UGGT1,Missense_Mutation,NM_020120,exon13,c.G1256A,p.R419Q,SNP,SNVindel,exonic,UGGT1,NA,nonsynonymous SNV,UGGT1:NM_020120:exon13:c.G1256A:p.R419Q,D,D,D,T,N,T
chr2,131116539,131116539,G,A,P270959_F,PTPN18,Missense_Mutation,NM_014369,exon2,c.G193A,p.V65M,SNP,SNVindel,exonic,PTPN18,NA,nonsynonymous SNV,PTPN18:NM_014369:exon2:c.G193A:p.V65M,D,N,D,D,N,D
chr2,132021811,132021811,C,T,P270959_F,POTEE,Missense_Mutation,NM_001083538,exon15,c.C2783T,p.A928V,SNP,SNVindel,exonic,POTEE,NA,nonsynonymous SNV,POTEE:NM_001083538:exon15:c.C2783T:p.A928V,D,.,D,D,N,D
chr2,132021908,132021908,G,A,P270959_F,POTEE,Silent,NM_001083538,exon15,c.G2880A,p.A960A,SNP,SNVindel,exonic,POTEE,NA,synonymous SNV,POTEE:NM_001083538:exon15:c.G2880A:p.A960A,NA,NA,NA,NA,NA,NA
chr2,135215721,135215721,C,T,P270959_F,TMEM163,Missense_Mutation,NM_030923,exon7,c.G691A,p.V231M,SNP,SNVindel,exonic,TMEM163,NA,nonsynonymous SNV,TMEM163:NM_030923:exon7:c.G691A:p.V231M,D,D,D,T,N,T
chr2,157185874,157185874,G,A,P270959_F,NR4A2,Silent,NM_006186,exon3,c.C825T,p.Y275Y,SNP,SNVindel,exonic,NR4A2,NA,synonymous SNV,"NR4A2:NM_006186:exon3:c.C825T:p.Y275Y,NR4A2:NM_173173:exon3:c.C636T:p.Y212Y",NA,NA,NA,NA,NA,NA
chr2,159481794,159481794,G,A,P270959_F,PKP4,Silent,NM_001005476,exon7,c.G1008A,p.S336S,SNP,SNVindel,exonic,PKP4,NA,synonymous SNV,"PKP4:NM_001005476:exon7:c.G1008A:p.S336S,PKP4:NM_001304969:exon7:c.G1008A:p.S336S,PKP4:NM_001304971:exon7:c.G1008A:p.S336S,PKP4:NM_003628:exon7:c.G1008A:p.S336S",NA,NA,NA,NA,NA,NA
chr2,168106126,168106126,A,C,P270959_F,XIRP2,Missense_Mutation,NM_001199144,exon7,c.A7558C,p.T2520P,SNP,SNVindel,exonic,XIRP2,NA,nonsynonymous SNV,"XIRP2:NM_001199144:exon7:c.A7558C:p.T2520P,XIRP2:NM_152381:exon9:c.A8224C:p.T2742P",D,N,N,T,N,T
chr2,174228081,174228081,G,A,P270959_F,CDCA7,Missense_Mutation,NM_145810,exon3,c.G275A,p.R92H,SNP,SNVindel,exonic,CDCA7,NA,nonsynonymous SNV,"CDCA7:NM_145810:exon3:c.G275A:p.R92H,CDCA7:NM_031942:exon4:c.G512A:p.R171H",D,N,N,T,N,T
chr2,179610900,179610900,G,A,P270959_F,TTN,Silent,NM_133379,exon46,c.C16227T,p.P5409P,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,TTN:NM_133379:exon46:c.C16227T:p.P5409P,NA,NA,NA,NA,NA,NA
chr2,183621194,183621194,C,T,P270959_F,DNAJC10,Missense_Mutation,NM_001271581,exon17,c.C1669T,p.R557W,SNP,SNVindel,exonic,DNAJC10,NA,nonsynonymous SNV,"DNAJC10:NM_001271581:exon17:c.C1669T:p.R557W,DNAJC10:NM_018981:exon18:c.C1807T:p.R603W",D,D,D,T,D,T
chr2,186666592,186666592,T,C,P270959_F,FSIP2,Missense_Mutation,NM_173651,exon17,c.T12559C,p.S4187P,SNP,SNVindel,exonic,FSIP2,NA,nonsynonymous SNV,FSIP2:NM_173651:exon17:c.T12559C:p.S4187P,D,.,N,T,D,T
chr2,189871078,189871078,G,A,P270959_F,COL3A1,Missense_Mutation,NM_000090,exon43,c.G3101A,p.R1034H,SNP,SNVindel,exonic,COL3A1,NA,nonsynonymous SNV,COL3A1:NM_000090:exon43:c.G3101A:p.R1034H,D,N,D,D,D,D
chr2,190531922,190531922,C,T,P270959_F,ASNSD1,Missense_Mutation,NM_001353497,exon3,c.C1064T,p.A355V,SNP,SNVindel,exonic,ASNSD1,NA,nonsynonymous SNV,"ASNSD1:NM_001353497:exon3:c.C1064T:p.A355V,ASNSD1:NM_019048:exon4:c.C1064T:p.A355V",D,D,D,T,D,T
chr2,201369584,201369584,C,T,P270959_F,KCTD18,Missense_Mutation,NM_001321547,exon3,c.G259A,p.A87T,SNP,SNVindel,exonic,KCTD18,NA,nonsynonymous SNV,"KCTD18:NM_001321547:exon3:c.G259A:p.A87T,KCTD18:NM_152387:exon3:c.G259A:p.A87T",D,D,D,T,N,D
chr2,201507488,201507488,G,A,P270959_F,AOX1,Silent,NM_001159,exon25,c.G2811A,p.T937T,SNP,SNVindel,exonic,AOX1,NA,synonymous SNV,AOX1:NM_001159:exon25:c.G2811A:p.T937T,NA,NA,NA,NA,NA,NA
chr2,201524002,201524002,G,A,P270959_F,AOX1,Missense_Mutation,NM_001159,exon28,c.G3286A,p.G1096S,SNP,SNVindel,exonic,AOX1,NA,nonsynonymous SNV,AOX1:NM_001159:exon28:c.G3286A:p.G1096S,D,D,D,T,D,T
chr2,201846033,201846033,C,T,P270959_F,FAM126B,Missense_Mutation,NM_001321618,exon11,c.G1553A,p.R518Q,SNP,SNVindel,exonic,FAM126B,NA,nonsynonymous SNV,"FAM126B:NM_001321618:exon11:c.G1553A:p.R518Q,FAM126B:NM_001321621:exon11:c.G1553A:p.R518Q,FAM126B:NM_001321619:exon12:c.G1553A:p.R518Q,FAM126B:NM_001321624:exon12:c.G1721A:p.R574Q,FAM126B:NM_173822:exon12:c.G1553A:p.R518Q,FAM126B:NM_001321622:exon13:c.G1553A:p.R518Q,FAM126B:NM_001321623:exon13:c.G1721A:p.R574Q,FAM126B:NM_001321625:exon13:c.G1721A:p.R574Q,FAM126B:NM_001321626:exon13:c.G1721A:p.R574Q,FAM126B:NM_001321629:exon13:c.G1307A:p.R436Q,FAM126B:NM_001321627:exon14:c.G1475A:p.R492Q,FAM126B:NM_001321628:exon14:c.G1475A:p.R492Q",D,D,D,D,N,D
chr2,202609063,202609063,G,A,P270959_F,ALS2,Silent,NM_020919,exon10,c.C2088T,p.H696H,SNP,SNVindel,exonic,ALS2,NA,synonymous SNV,ALS2:NM_020919:exon10:c.C2088T:p.H696H,NA,NA,NA,NA,NA,NA
chr2,203395675,203395675,G,A,P270959_F,BMPR2,Missense_Mutation,NM_001204,exon8,c.G1126A,p.E376K,SNP,SNVindel,exonic,BMPR2,NA,nonsynonymous SNV,BMPR2:NM_001204:exon8:c.G1126A:p.E376K,D,D,D,T,D,T
chr2,206869670,206869670,G,A,P270959_F,INO80D,Missense_Mutation,NM_017759,exon11,c.C2506T,p.P836S,SNP,SNVindel,exonic,INO80D,NA,nonsynonymous SNV,INO80D:NM_017759:exon11:c.C2506T:p.P836S,D,D,D,T,N,T
chr2,209113112,209113112,C,T,P270959_F,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,210588343,210588343,G,A,P270959_F,MAP2,Missense_Mutation,NM_031847,exon10,c.G1030A,p.D344N,SNP,SNVindel,exonic,MAP2,NA,nonsynonymous SNV,"MAP2:NM_031847:exon10:c.G1030A:p.D344N,MAP2:NM_001039538:exon12:c.G1201A:p.D401N",D,.,D,D,D,D
chr2,216271855,216271855,C,T,P270959_F,FN1,Missense_Mutation,NM_001306129,exon18,c.G2708A,p.R903H,SNP,SNVindel,exonic,FN1,NA,nonsynonymous SNV,"FN1:NM_001306129:exon18:c.G2708A:p.R903H,FN1:NM_001306130:exon18:c.G2708A:p.R903H,FN1:NM_001306131:exon18:c.G2708A:p.R903H,FN1:NM_001306132:exon18:c.G2708A:p.R903H,FN1:NM_001365517:exon18:c.G2708A:p.R903H,FN1:NM_001365518:exon18:c.G2708A:p.R903H,FN1:NM_001365519:exon18:c.G2708A:p.R903H,FN1:NM_001365520:exon18:c.G2708A:p.R903H,FN1:NM_001365521:exon18:c.G2708A:p.R903H,FN1:NM_001365522:exon18:c.G2708A:p.R903H,FN1:NM_001365523:exon18:c.G2708A:p.R903H,FN1:NM_001365524:exon18:c.G2708A:p.R903H,FN1:NM_002026:exon18:c.G2708A:p.R903H,FN1:NM_212474:exon18:c.G2708A:p.R903H,FN1:NM_212476:exon18:c.G2708A:p.R903H,FN1:NM_212478:exon18:c.G2708A:p.R903H,FN1:NM_212482:exon18:c.G2708A:p.R903H",T,D,N,T,N,T
chr2,220421390,220421390,G,A,P270959_F,OBSL1,Silent,NM_001173431,exon13,c.C4122T,p.G1374G,SNP,SNVindel,exonic,OBSL1,NA,synonymous SNV,"OBSL1:NM_001173431:exon13:c.C4122T:p.G1374G,OBSL1:NM_015311:exon13:c.C4122T:p.G1374G",NA,NA,NA,NA,NA,NA
chr2,220428332,220428332,C,T,P270959_F,OBSL1,Missense_Mutation,NM_001173408,exon7,c.G2425A,p.V809M,SNP,SNVindel,exonic,OBSL1,NA,nonsynonymous SNV,"OBSL1:NM_001173408:exon7:c.G2425A:p.V809M,OBSL1:NM_001173431:exon7:c.G2425A:p.V809M,OBSL1:NM_015311:exon7:c.G2425A:p.V809M",D,.,N,T,N,T
chr2,222298992,222298992,C,T,P270959_F,EPHA4,Missense_Mutation,NM_001304537,exon13,c.G2213A,p.R738Q,SNP,SNVindel,exonic,EPHA4,NA,nonsynonymous SNV,"EPHA4:NM_001304537:exon13:c.G2213A:p.R738Q,EPHA4:NM_001363748:exon14:c.G2366A:p.R789Q,EPHA4:NM_004438:exon14:c.G2366A:p.R789Q,EPHA4:NM_001304536:exon15:c.G2366A:p.R789Q",D,D,D,D,D,D
chr2,227663361,227663361,G,A,P270959_F,IRS1,Silent,NM_005544,exon1,c.C94T,p.L32L,SNP,SNVindel,exonic,IRS1,NA,synonymous SNV,IRS1:NM_005544:exon1:c.C94T:p.L32L,NA,NA,NA,NA,NA,NA
chr2,233274326,233274326,G,A,P270959_F,ALPG,Missense_Mutation,NM_031313,exon11,c.G1343A,p.G448E,SNP,SNVindel,exonic,ALPG,NA,nonsynonymous SNV,ALPG:NM_031313:exon11:c.G1343A:p.G448E,T,N,N,D,N,T
chr2,234835265,234835265,C,T,P270959_F,TRPM8,Missense_Mutation,NM_024080,exon2,c.C83T,p.A28V,SNP,SNVindel,exonic,TRPM8,NA,nonsynonymous SNV,TRPM8:NM_024080:exon2:c.C83T:p.A28V,T,N,N,T,N,T
chr2,238249727,238249727,G,A,P270959_F,COL6A3,Missense_Mutation,NM_057166,exon35,c.C6011T,p.A2004V,SNP,SNVindel,exonic,COL6A3,NA,nonsynonymous SNV,"COL6A3:NM_057166:exon35:c.C6011T:p.A2004V,COL6A3:NM_057167:exon37:c.C7214T:p.A2405V,COL6A3:NM_004369:exon38:c.C7832T:p.A2611V",T,N,D,D,N,D
chr2,238274409,238274409,C,T,P270959_F,COL6A3,Missense_Mutation,NM_057166,exon9,c.G3949A,p.V1317I,SNP,SNVindel,exonic,COL6A3,NA,nonsynonymous SNV,"COL6A3:NM_057166:exon9:c.G3949A:p.V1317I,COL6A3:NM_057167:exon11:c.G5152A:p.V1718I,COL6A3:NM_004369:exon12:c.G5770A:p.V1924I",T,N,N,T,N,T
chr2,241661245,241661245,G,A,P270959_F,KIF1A,Silent,NM_004321,exon42,c.C4419T,p.C1473C,SNP,SNVindel,exonic,KIF1A,NA,synonymous SNV,"KIF1A:NM_004321:exon42:c.C4419T:p.C1473C,KIF1A:NM_001320705:exon43:c.C4446T:p.C1482C,KIF1A:NM_001330290:exon43:c.C4521T:p.C1507C,KIF1A:NM_001244008:exon44:c.C4722T:p.C1574C,KIF1A:NM_001330289:exon44:c.C4473T:p.C1491C",NA,NA,NA,NA,NA,NA
chr2,242572541,242572541,G,A,P270959_F,THAP4,Missense_Mutation,NM_015963,exon2,c.C1031T,p.S344L,SNP,SNVindel,exonic,THAP4,NA,nonsynonymous SNV,THAP4:NM_015963:exon2:c.C1031T:p.S344L,D,N,D,D,N,D
chr3,12977834,12977834,C,T,P270959_F,IQSEC1,Missense_Mutation,NM_001134382,exon3,c.G682A,p.A228T,SNP,SNVindel,exonic,IQSEC1,NA,nonsynonymous SNV,"IQSEC1:NM_001134382:exon3:c.G682A:p.A228T,IQSEC1:NM_001330619:exon3:c.G358A:p.A120T,IQSEC1:NM_014869:exon3:c.G724A:p.A242T",T,D,D,T,N,T
chr3,14697068,14697068,C,T,P270959_F,CCDC174,Silent,NM_016474,exon3,c.C180T,p.G60G,SNP,SNVindel,exonic,CCDC174,NA,synonymous SNV,CCDC174:NM_016474:exon3:c.C180T:p.G60G,NA,NA,NA,NA,NA,NA
chr3,14860896,14860896,C,T,P270959_F,FGD5,Silent,NM_001320276,exon1,c.C318T,p.G106G,SNP,SNVindel,exonic,FGD5,NA,synonymous SNV,"FGD5:NM_001320276:exon1:c.C318T:p.G106G,FGD5:NM_152536:exon1:c.C318T:p.G106G",NA,NA,NA,NA,NA,NA
chr3,14862572,14862572,C,T,P270959_F,FGD5,Missense_Mutation,NM_001320276,exon1,c.C1994T,p.T665M,SNP,SNVindel,exonic,FGD5,NA,nonsynonymous SNV,"FGD5:NM_001320276:exon1:c.C1994T:p.T665M,FGD5:NM_152536:exon1:c.C1994T:p.T665M",D,N,D,T,D,D
chr3,15064843,15064843,A,C,P270959_F,NR2C2,Missense_Mutation,NM_001291694,exon6,c.A693C,p.K231N,SNP,SNVindel,exonic,NR2C2,NA,nonsynonymous SNV,"NR2C2:NM_001291694:exon6:c.A693C:p.K231N,NR2C2:NM_003298:exon7:c.A750C:p.K250N",T,D,D,D,N,T
chr3,33135495,33135495,G,A,P270959_F,TMPPE,Missense_Mutation,NM_001039770,exon2,c.C193T,p.R65C,SNP,SNVindel,exonic,TMPPE,NA,nonsynonymous SNV,TMPPE:NM_001039770:exon2:c.C193T:p.R65C,D,N,D,.,N,T
chr3,38307621,38307621,C,T,P270959_F,SLC22A13,Silent,NM_004256,exon1,c.C270T,p.P90P,SNP,SNVindel,exonic,SLC22A13,NA,synonymous SNV,SLC22A13:NM_004256:exon1:c.C270T:p.P90P,NA,NA,NA,NA,NA,NA
chr3,38592951,38592951,G,A,P270959_F,SCN5A,Nonsense_Mutation,NM_001099405,exon27,c.C4858T,p.R1620X,SNP,SNVindel,exonic,SCN5A,NA,stopgain,"SCN5A:NM_001099405:exon27:c.C4858T:p.R1620X,SCN5A:NM_001160161:exon27:c.C4750T:p.R1584X,SCN5A:NM_001354701:exon27:c.C4855T:p.R1619X,SCN5A:NM_000335:exon28:c.C4909T:p.R1637X,SCN5A:NM_001099404:exon28:c.C4912T:p.R1638X,SCN5A:NM_001160160:exon28:c.C4813T:p.R1605X,SCN5A:NM_198056:exon28:c.C4912T:p.R1638X",.,D,D,.,.,.
chr3,39230193,39230193,G,A,P270959_F,XIRP1,Silent,NM_001198621,exon2,c.C744T,p.G248G,SNP,SNVindel,exonic,XIRP1,NA,synonymous SNV,"XIRP1:NM_001198621:exon2:c.C744T:p.G248G,XIRP1:NM_194293:exon2:c.C744T:p.G248G",NA,NA,NA,NA,NA,NA
chr3,45954631,45954631,T,C,P270959_F,LZTFL1,Missense_Mutation,NM_001276379,exon2,c.A8G,p.N3S,SNP,SNVindel,exonic,LZTFL1,NA,nonsynonymous SNV,LZTFL1:NM_001276379:exon2:c.A8G:p.N3S,D,.,N,T,N,T
chr3,47098909,47098909,C,T,P270959_F,SETD2,Missense_Mutation,NM_001349370,exon14,c.G6233A,p.R2078Q,SNP,SNVindel,exonic,SETD2,NA,nonsynonymous SNV,"SETD2:NM_001349370:exon14:c.G6233A:p.R2078Q,SETD2:NM_014159:exon15:c.G6365A:p.R2122Q",D,D,D,T,D,T
chr3,47158213,47158213,G,A,P270959_F,SETD2,Nonsense_Mutation,NM_001349370,exon3,c.C4354T,p.R1452X,SNP,SNVindel,exonic,SETD2,NA,stopgain,"SETD2:NM_001349370:exon3:c.C4354T:p.R1452X,SETD2:NM_014159:exon4:c.C4486T:p.R1496X",.,D,A,.,.,.
chr3,47449946,47449946,C,T,P270959_F,PTPN23,Silent,NM_001304482,exon14,c.C918T,p.P306P,SNP,SNVindel,exonic,PTPN23,NA,synonymous SNV,"PTPN23:NM_001304482:exon14:c.C918T:p.P306P,PTPN23:NM_015466:exon15:c.C1296T:p.P432P",NA,NA,NA,NA,NA,NA
chr3,48511127,48511127,G,A,P270959_F,SHISA5,Missense_Mutation,NM_001272082,exon2,c.C121T,p.P41S,SNP,SNVindel,exonic,SHISA5,NA,nonsynonymous SNV,"SHISA5:NM_001272082:exon2:c.C121T:p.P41S,SHISA5:NM_001272083:exon2:c.C121T:p.P41S,SHISA5:NM_001272065:exon4:c.C409T:p.P137S,SHISA5:NM_001272066:exon4:c.C337T:p.P113S,SHISA5:NM_001272067:exon4:c.C337T:p.P113S,SHISA5:NM_016479:exon4:c.C430T:p.P144S,SHISA5:NM_001272068:exon5:c.C337T:p.P113S",D,D,D,T,N,T
chr3,49662655,49662655,G,A,P270959_F,BSN,Missense_Mutation,NM_003458,exon2,c.G472A,p.V158I,SNP,SNVindel,exonic,BSN,NA,nonsynonymous SNV,BSN:NM_003458:exon2:c.G472A:p.V158I,D,D,D,T,N,T
chr3,51897237,51897237,C,T,P270959_F,IQCF2,Missense_Mutation,NM_203424,exon3,c.C346T,p.R116C,SNP,SNVindel,exonic,IQCF2,NA,nonsynonymous SNV,IQCF2:NM_203424:exon3:c.C346T:p.R116C,D,N,N,T,D,T
chr3,52263102,52263102,C,T,P270959_F,TWF2,Missense_Mutation,NM_007284,exon9,c.G998A,p.R333Q,SNP,SNVindel,exonic,TWF2,NA,nonsynonymous SNV,TWF2:NM_007284:exon9:c.G998A:p.R333Q,D,.,D,T,D,T
chr3,52361932,52361932,C,T,P270959_F,DNAH1,Missense_Mutation,NM_015512,exon6,c.C773T,p.P258L,SNP,SNVindel,exonic,DNAH1,NA,nonsynonymous SNV,DNAH1:NM_015512:exon6:c.C773T:p.P258L,T,N,D,T,D,T
chr3,52379567,52379567,G,A,P270959_F,DNAH1,Missense_Mutation,NM_015512,exon10,c.G1501A,p.V501M,SNP,SNVindel,exonic,DNAH1,NA,nonsynonymous SNV,DNAH1:NM_015512:exon10:c.G1501A:p.V501M,T,D,N,T,N,T
chr3,52469783,52469783,C,T,P270959_F,SEMA3G,Missense_Mutation,NM_020163,exon16,c.G2185A,p.V729M,SNP,SNVindel,exonic,SEMA3G,NA,nonsynonymous SNV,SEMA3G:NM_020163:exon16:c.G2185A:p.V729M,T,N,N,T,N,T
chr3,52597433,52597433,C,T,P270959_F,PBRM1,Missense_Mutation,NM_001350075,exon25,c.G3952A,p.E1318K,SNP,SNVindel,exonic,PBRM1,NA,nonsynonymous SNV,"PBRM1:NM_001350075:exon25:c.G3952A:p.E1318K,PBRM1:NM_018313:exon25:c.G3877A:p.E1293K,PBRM1:NM_001366071:exon26:c.G4015A:p.E1339K,PBRM1:NM_001366072:exon26:c.G4015A:p.E1339K,PBRM1:NM_001366073:exon26:c.G4006A:p.E1336K,PBRM1:NM_001366076:exon26:c.G3955A:p.E1319K,PBRM1:NM_181042:exon26:c.G3952A:p.E1318K,PBRM1:NM_001350079:exon27:c.G3940A:p.E1314K,PBRM1:NM_001366070:exon27:c.G4060A:p.E1354K,PBRM1:NM_001366074:exon27:c.G4003A:p.E1335K,PBRM1:NM_001366075:exon27:c.G3985A:p.E1329K,PBRM1:NM_001350074:exon28:c.G4060A:p.E1354K,PBRM1:NM_001350076:exon28:c.G4057A:p.E1353K,PBRM1:NM_001350078:exon28:c.G4060A:p.E1354K,PBRM1:NM_001350077:exon29:c.G4051A:p.E1351K",T,D,D,T,N,T
chr3,52831902,52831902,G,A,P270959_F,ITIH3,Missense_Mutation,NM_002217,exon6,c.G619A,p.D207N,SNP,SNVindel,exonic,ITIH3,NA,nonsynonymous SNV,ITIH3:NM_002217:exon6:c.G619A:p.D207N,T,D,D,T,N,T
chr3,52864617,52864617,G,A,P270959_F,ITIH4,Silent,NM_001166449,exon1,c.C42T,p.L14L,SNP,SNVindel,exonic,ITIH4,NA,synonymous SNV,"ITIH4:NM_001166449:exon1:c.C42T:p.L14L,ITIH4:NM_002218:exon1:c.C42T:p.L14L",NA,NA,NA,NA,NA,NA
chr3,58494661,58494661,G,A,P270959_F,ACOX2,Missense_Mutation,NM_003500,exon14,c.C1942T,p.R648C,SNP,SNVindel,exonic,ACOX2,NA,nonsynonymous SNV,ACOX2:NM_003500:exon14:c.C1942T:p.R648C,D,N,D,T,D,T
chr3,64142994,64142994,G,A,P270959_F,PRICKLE2,Silent,NM_001370528,exon5,c.C444T,p.R148R,SNP,SNVindel,exonic,PRICKLE2,NA,synonymous SNV,"PRICKLE2:NM_001370528:exon5:c.C444T:p.R148R,PRICKLE2:NM_198859:exon5:c.C444T:p.R148R",NA,NA,NA,NA,NA,NA
chr3,72427569,72427569,G,A,P270959_F,RYBP,Silent,NM_012234,exon4,c.C624T,p.G208G,SNP,SNVindel,exonic,RYBP,NA,synonymous SNV,RYBP:NM_012234:exon4:c.C624T:p.G208G,NA,NA,NA,NA,NA,NA
chr3,73438996,73438996,G,A,P270959_F,PDZRN3,Missense_Mutation,NM_001303139,exon5,c.C481T,p.R161C,SNP,SNVindel,exonic,PDZRN3,NA,nonsynonymous SNV,"PDZRN3:NM_001303139:exon5:c.C481T:p.R161C,PDZRN3:NM_001303140:exon5:c.C358T:p.R120C,PDZRN3:NM_001303141:exon5:c.C553T:p.R185C,PDZRN3:NM_001303142:exon5:c.C538T:p.R180C,PDZRN3:NM_015009:exon7:c.C1387T:p.R463C",D,D,D,T,D,D
chr3,87311353,87311353,C,T,P270959_F,POU1F1,Missense_Mutation,NM_000306,exon4,c.G472A,p.A158T,SNP,SNVindel,exonic,POU1F1,NA,nonsynonymous SNV,"POU1F1:NM_000306:exon4:c.G472A:p.A158T,POU1F1:NM_001122757:exon4:c.G550A:p.A184T",D,D,D,D,D,D
chr3,97806445,97806445,C,T,P270959_F,OR5AC2,Silent,NM_054106,exon1,c.C429T,p.S143S,SNP,SNVindel,exonic,OR5AC2,NA,synonymous SNV,OR5AC2:NM_054106:exon1:c.C429T:p.S143S,NA,NA,NA,NA,NA,NA
chr3,100553554,100553554,C,T,P270959_F,ABI3BP,Missense_Mutation,NM_001349330,exon24,c.G1913A,p.R638H,SNP,SNVindel,exonic,ABI3BP,NA,nonsynonymous SNV,"ABI3BP:NM_001349330:exon24:c.G1913A:p.R638H,ABI3BP:NM_001349331:exon25:c.G1991A:p.R664H,ABI3BP:NM_001349329:exon26:c.G2063A:p.R688H,ABI3BP:NM_001365642:exon28:c.G2204A:p.R735H,ABI3BP:NM_001365643:exon29:c.G2276A:p.R759H",D,.,D,T,N,T
chr3,113517230,113517230,G,A,P270959_F,ATP6V1A,Silent,NM_001690,exon12,c.G1431A,p.T477T,SNP,SNVindel,exonic,ATP6V1A,NA,synonymous SNV,ATP6V1A:NM_001690:exon12:c.G1431A:p.T477T,NA,NA,NA,NA,NA,NA
chr3,121304887,121304887,C,T,P270959_F,ARGFX,Nonsense_Mutation,NM_001012659,exon5,c.C388T,p.R130X,SNP,SNVindel,exonic,ARGFX,NA,stopgain,ARGFX:NM_001012659:exon5:c.C388T:p.R130X,.,N,D,.,.,.
chr3,121345737,121345737,C,T,P270959_F,FBXO40,Nonsense_Mutation,NM_016298,exon4,c.C2110T,p.R704X,SNP,SNVindel,exonic,FBXO40,NA,stopgain,FBXO40:NM_016298:exon4:c.C2110T:p.R704X,.,N,N,.,.,.
chr3,126261320,126261320,C,T,P270959_F,CHST13,Missense_Mutation,NM_152889,exon3,c.C925T,p.R309W,SNP,SNVindel,exonic,CHST13,NA,nonsynonymous SNV,CHST13:NM_152889:exon3:c.C925T:p.R309W,D,U,N,T,D,T
chr3,126349658,126349658,C,T,P270959_F,TXNRD3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TXNRD3,NA,unknown,UNKNOWN,D,D,.,T,D,D
chr3,128664697,128664697,G,A,P270959_F,KIAA1257,Missense_Mutation,NM_001348520,exon9,c.C602T,p.A201V,SNP,SNVindel,exonic,KIAA1257,NA,nonsynonymous SNV,"KIAA1257:NM_001348520:exon9:c.C602T:p.A201V,KIAA1257:NM_001348521:exon10:c.C506T:p.A169V",T,N,N,.,N,T
chr3,136701008,136701008,C,T,P270959_F,IL20RB,Silent,NM_144717,exon3,c.C222T,p.Y74Y,SNP,SNVindel,exonic,IL20RB,NA,synonymous SNV,IL20RB:NM_144717:exon3:c.C222T:p.Y74Y,NA,NA,NA,NA,NA,NA
chr3,137742531,137742531,C,T,P270959_F,CLDN18,Silent,NM_001002026,exon2,c.C252T,p.I84I,SNP,SNVindel,exonic,CLDN18,NA,synonymous SNV,"CLDN18:NM_001002026:exon2:c.C252T:p.I84I,CLDN18:NM_016369:exon2:c.C252T:p.I84I",NA,NA,NA,NA,NA,NA
chr3,138341122,138341122,C,T,P270959_F,FAIM,Silent,NM_001033032,exon3,c.C204T,p.D68D,SNP,SNVindel,exonic,FAIM,NA,synonymous SNV,"FAIM:NM_001033032:exon3:c.C204T:p.D68D,FAIM:NM_018147:exon3:c.C204T:p.D68D,FAIM:NM_001033030:exon4:c.C306T:p.D102D,FAIM:NM_001033031:exon4:c.C270T:p.D90D",NA,NA,NA,NA,NA,NA
chr3,139102271,139102271,G,A,P270959_F,COPB2,Nonsense_Mutation,NM_004766,exon2,c.C10T,p.R4X,SNP,SNVindel,exonic,COPB2,NA,stopgain,COPB2:NM_004766:exon2:c.C10T:p.R4X,.,D,A,.,.,.
chr3,141161852,141161852,G,A,P270959_F,ZBTB38,Missense_Mutation,NM_001350100,exon4,c.G622A,p.V208I,SNP,SNVindel,exonic,ZBTB38,NA,nonsynonymous SNV,"ZBTB38:NM_001350100:exon4:c.G622A:p.V208I,ZBTB38:NM_001350099:exon6:c.G622A:p.V208I,ZBTB38:NM_001080412:exon8:c.G622A:p.V208I",D,N,N,T,N,T
chr3,142681152,142681152,C,T,P270959_F,PAQR9,Missense_Mutation,NM_198504,exon1,c.G1027A,p.A343T,SNP,SNVindel,exonic,PAQR9,NA,nonsynonymous SNV,PAQR9:NM_198504:exon1:c.G1027A:p.A343T,T,N,N,T,N,T
chr3,149700447,149700447,G,A,P270959_F,TMEM183B,Nonsense_Mutation,NM_001079809,exon1,c.C649T,p.R217X,SNP,SNVindel,exonic,TMEM183B,NA,stopgain,TMEM183B:NM_001079809:exon1:c.C649T:p.R217X,NA,NA,NA,NA,NA,NA
chr3,149701061,149701061,C,T,P270959_F,TMEM183B,Missense_Mutation,NM_001079809,exon1,c.G35A,p.R12H,SNP,SNVindel,exonic,TMEM183B,NA,nonsynonymous SNV,TMEM183B:NM_001079809:exon1:c.G35A:p.R12H,NA,NA,NA,NA,NA,NA
chr3,154146651,154146651,A,G,P270959_F,GPR149,Missense_Mutation,NM_001038705,exon1,c.T754C,p.S252P,SNP,SNVindel,exonic,GPR149,NA,nonsynonymous SNV,GPR149:NM_001038705:exon1:c.T754C:p.S252P,T,N,N,T,N,T
chr3,164716358,164716358,G,A,P270959_F,SI,Nonsense_Mutation,NM_001041,exon38,c.C4510T,p.R1504X,SNP,SNVindel,exonic,SI,NA,stopgain,SI:NM_001041:exon38:c.C4510T:p.R1504X,.,N,A,.,.,.
chr3,164727122,164727122,G,A,P270959_F,SI,Missense_Mutation,NM_001041,exon35,c.C4124T,p.A1375V,SNP,SNVindel,exonic,SI,NA,nonsynonymous SNV,SI:NM_001041:exon35:c.C4124T:p.A1375V,T,N,N,D,N,T
chr3,169847102,169847102,C,T,P270959_F,PHC3,Silent,NM_001308116,exon8,c.G1122A,p.P374P,SNP,SNVindel,exonic,PHC3,NA,synonymous SNV,"PHC3:NM_001308116:exon8:c.G1122A:p.P374P,PHC3:NM_024947:exon8:c.G1158A:p.P386P",NA,NA,NA,NA,NA,NA
chr3,170716931,170716931,G,A,P270959_F,SLC2A2,Nonsense_Mutation,NM_001278658,exon8,c.C736T,p.R246X,SNP,SNVindel,exonic,SLC2A2,NA,stopgain,"SLC2A2:NM_001278658:exon8:c.C736T:p.R246X,SLC2A2:NM_001278659:exon8:c.C574T:p.R192X,SLC2A2:NM_000340:exon9:c.C1093T:p.R365X",.,D,A,.,.,.
chr3,170945994,170945994,G,A,P270959_F,TNIK,Missense_Mutation,NM_001161560,exon3,c.C140T,p.T47M,SNP,SNVindel,exonic,TNIK,NA,nonsynonymous SNV,"TNIK:NM_001161560:exon3:c.C140T:p.T47M,TNIK:NM_001161561:exon3:c.C140T:p.T47M,TNIK:NM_001161562:exon3:c.C140T:p.T47M,TNIK:NM_001161563:exon3:c.C140T:p.T47M,TNIK:NM_001161564:exon3:c.C140T:p.T47M,TNIK:NM_001161565:exon3:c.C140T:p.T47M,TNIK:NM_001161566:exon3:c.C140T:p.T47M,TNIK:NM_015028:exon3:c.C140T:p.T47M",D,D,D,T,D,T
chr3,172058987,172058987,G,A,P270959_F,FNDC3B,Missense_Mutation,NM_001135095,exon17,c.G1937A,p.R646Q,SNP,SNVindel,exonic,FNDC3B,NA,nonsynonymous SNV,"FNDC3B:NM_001135095:exon17:c.G1937A:p.R646Q,FNDC3B:NM_022763:exon17:c.G1937A:p.R646Q",D,D,D,T,D,D
chr3,178936092,178936092,A,G,P270959_F,PIK3CA,Missense_Mutation,NM_006218,exon10,c.A1634G,p.E545G,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon10:c.A1634G:p.E545G,D,D,D,T,D,T
chr3,184071898,184071898,C,T,P270959_F,CLCN2,Missense_Mutation,NM_001171088,exon14,c.G1580A,p.G527D,SNP,SNVindel,exonic,CLCN2,NA,nonsynonymous SNV,"CLCN2:NM_001171088:exon14:c.G1580A:p.G527D,CLCN2:NM_001171087:exon15:c.G1661A:p.G554D,CLCN2:NM_001171089:exon15:c.G1712A:p.G571D,CLCN2:NM_004366:exon15:c.G1712A:p.G571D",T,D,D,D,D,D
chr3,185636222,185636222,G,A,P270959_F,TRA2B,Missense_Mutation,NM_001243879,exon7,c.C487T,p.R163W,SNP,SNVindel,exonic,TRA2B,NA,nonsynonymous SNV,"TRA2B:NM_001243879:exon7:c.C487T:p.R163W,TRA2B:NM_004593:exon8:c.C787T:p.R263W",D,D,D,T,D,T
chr3,185775263,185775263,C,T,P270959_F,ETV5,Missense_Mutation,NM_004454,exon10,c.G988A,p.D330N,SNP,SNVindel,exonic,ETV5,NA,nonsynonymous SNV,ETV5:NM_004454:exon10:c.G988A:p.D330N,T,D,D,T,N,T
chr3,190321920,190321920,G,A,P270959_F,IL1RAP,Missense_Mutation,NM_001167929,exon3,c.G68A,p.R23H,SNP,SNVindel,exonic,IL1RAP,NA,nonsynonymous SNV,"IL1RAP:NM_001167929:exon3:c.G68A:p.R23H,IL1RAP:NM_001167930:exon3:c.G68A:p.R23H,IL1RAP:NM_001364879:exon3:c.G68A:p.R23H,IL1RAP:NM_001364880:exon3:c.G68A:p.R23H,IL1RAP:NM_001167931:exon4:c.G68A:p.R23H,IL1RAP:NM_001364881:exon4:c.G68A:p.R23H,IL1RAP:NM_002182:exon4:c.G68A:p.R23H,IL1RAP:NM_134470:exon4:c.G68A:p.R23H,IL1RAP:NM_001167928:exon5:c.G68A:p.R23H",T,D,D,T,N,T
chr3,191179196,191179196,C,T,P270959_F,PYDC2,Missense_Mutation,NM_001083308,exon1,c.C245T,p.T82M,SNP,SNVindel,exonic,PYDC2,NA,nonsynonymous SNV,PYDC2:NM_001083308:exon1:c.C245T:p.T82M,T,.,N,T,N,T
chr3,195975189,195975189,G,A,P270959_F,PCYT1A,Nonsense_Mutation,NM_001312673,exon4,c.C223T,p.R75X,SNP,SNVindel,exonic,PCYT1A,NA,stopgain,"PCYT1A:NM_001312673:exon4:c.C223T:p.R75X,PCYT1A:NM_005017:exon5:c.C223T:p.R75X",.,D,A,.,.,.
chr4,1019088,1019088,T,A,P270959_F,FGFRL1,Missense_Mutation,NM_021923,exon6,c.T1468A,p.S490T,SNP,SNVindel,exonic,FGFRL1,NA,nonsynonymous SNV,"FGFRL1:NM_021923:exon6:c.T1468A:p.S490T,FGFRL1:NM_001004356:exon7:c.T1468A:p.S490T,FGFRL1:NM_001004358:exon7:c.T1468A:p.S490T,FGFRL1:NM_001370296:exon7:c.T1468A:p.S490T",D,N,D,T,N,T
chr4,1332284,1332284,C,T,P270959_F,MAEA,Missense_Mutation,NM_001297431,exon6,c.C770T,p.A257V,SNP,SNVindel,exonic,MAEA,NA,nonsynonymous SNV,"MAEA:NM_001297431:exon6:c.C770T:p.A257V,MAEA:NM_001297430:exon7:c.C770T:p.A257V,MAEA:NM_005882:exon7:c.C851T:p.A284V,MAEA:NM_001017405:exon8:c.C974T:p.A325V,MAEA:NM_001297432:exon8:c.C971T:p.A324V,MAEA:NM_001297433:exon8:c.C830T:p.A277V",D,D,D,T,D,T
chr4,6925475,6925475,G,A,P270959_F,TBC1D14,Missense_Mutation,NM_001113361,exon2,c.G359A,p.R120Q,SNP,SNVindel,exonic,TBC1D14,NA,nonsynonymous SNV,"TBC1D14:NM_001113361:exon2:c.G359A:p.R120Q,TBC1D14:NM_020773:exon2:c.G359A:p.R120Q",T,N,N,T,N,T
chr4,10079446,10079446,G,A,P270959_F,WDR1,Silent,NM_005112,exon10,c.C1080T,p.D360D,SNP,SNVindel,exonic,WDR1,NA,synonymous SNV,"WDR1:NM_005112:exon10:c.C1080T:p.D360D,WDR1:NM_017491:exon13:c.C1500T:p.D500D",NA,NA,NA,NA,NA,NA
chr4,30723406,30723406,A,C,P270959_F,PCDH7,Missense_Mutation,NM_001173523,exon1,c.A362C,p.Q121P,SNP,SNVindel,exonic,PCDH7,NA,nonsynonymous SNV,"PCDH7:NM_001173523:exon1:c.A362C:p.Q121P,PCDH7:NM_002589:exon1:c.A362C:p.Q121P,PCDH7:NM_032456:exon1:c.A362C:p.Q121P,PCDH7:NM_032457:exon1:c.A362C:p.Q121P",D,.,D,T,N,T
chr4,30724220,30724220,G,T,P270959_F,PCDH7,Missense_Mutation,NM_001173523,exon1,c.G1176T,p.Q392H,SNP,SNVindel,exonic,PCDH7,NA,nonsynonymous SNV,"PCDH7:NM_001173523:exon1:c.G1176T:p.Q392H,PCDH7:NM_002589:exon1:c.G1176T:p.Q392H,PCDH7:NM_032456:exon1:c.G1176T:p.Q392H,PCDH7:NM_032457:exon1:c.G1176T:p.Q392H",D,.,D,T,N,T
chr4,40245120,40245120,C,T,P270959_F,RHOH,Silent,NM_001278363,exon3,c.C114T,p.Y38Y,SNP,SNVindel,exonic,RHOH,NA,synonymous SNV,"RHOH:NM_001278363:exon3:c.C114T:p.Y38Y,RHOH:NM_001278367:exon3:c.C114T:p.Y38Y,RHOH:NM_001278368:exon3:c.C114T:p.Y38Y,RHOH:NM_001278369:exon3:c.C114T:p.Y38Y,RHOH:NM_004310:exon3:c.C114T:p.Y38Y,RHOH:NM_001278359:exon4:c.C114T:p.Y38Y,RHOH:NM_001278360:exon4:c.C114T:p.Y38Y,RHOH:NM_001278361:exon4:c.C114T:p.Y38Y,RHOH:NM_001278362:exon4:c.C114T:p.Y38Y,RHOH:NM_001278365:exon4:c.C114T:p.Y38Y,RHOH:NM_001278366:exon4:c.C114T:p.Y38Y,RHOH:NM_001278364:exon5:c.C114T:p.Y38Y",NA,NA,NA,NA,NA,NA
chr4,40351405,40351405,C,T,P270959_F,CHRNA9,Missense_Mutation,NM_017581,exon4,c.C872T,p.P291L,SNP,SNVindel,exonic,CHRNA9,NA,nonsynonymous SNV,CHRNA9:NM_017581:exon4:c.C872T:p.P291L,D,D,D,D,D,D
chr4,66217142,66217142,G,C,P270959_F,EPHA5,Missense_Mutation,NM_001281766,exon13,c.C2410G,p.L804V,SNP,SNVindel,exonic,EPHA5,NA,nonsynonymous SNV,"EPHA5:NM_001281766:exon13:c.C2410G:p.L804V,EPHA5:NM_182472:exon13:c.C2407G:p.L803V,EPHA5:NM_001281765:exon14:c.C2476G:p.L826V,EPHA5:NM_001281767:exon14:c.C2476G:p.L826V,EPHA5:NM_001318761:exon14:c.C2269G:p.L757V,EPHA5:NM_004439:exon14:c.C2473G:p.L825V",D,D,D,D,N,D
chr4,68925057,68925057,A,G,P270959_F,TMPRSS11F,Missense_Mutation,NM_207407,exon9,c.T1145C,p.I382T,SNP,SNVindel,exonic,TMPRSS11F,NA,nonsynonymous SNV,TMPRSS11F:NM_207407:exon9:c.T1145C:p.I382T,T,N,D,D,N,T
chr4,70156481,70156481,C,T,P270959_F,UGT2B28,Missense_Mutation,NM_053039,exon5,c.C1262T,p.S421L,SNP,SNVindel,exonic,UGT2B28,NA,nonsynonymous SNV,UGT2B28:NM_053039:exon5:c.C1262T:p.S421L,D,U,N,T,D,T
chr4,74021744,74021744,G,A,P270959_F,ANKRD17,Missense_Mutation,NM_001286771,exon4,c.C505T,p.L169F,SNP,SNVindel,exonic,ANKRD17,NA,nonsynonymous SNV,"ANKRD17:NM_001286771:exon4:c.C505T:p.L169F,ANKRD17:NM_015574:exon4:c.C844T:p.L282F,ANKRD17:NM_032217:exon4:c.C844T:p.L282F,ANKRD17:NM_198889:exon4:c.C844T:p.L282F",D,D,D,T,D,T
chr4,76797614,76797614,G,A,P270959_F,PPEF2,Silent,NM_006239,exon11,c.C1146T,p.D382D,SNP,SNVindel,exonic,PPEF2,NA,synonymous SNV,PPEF2:NM_006239:exon11:c.C1146T:p.D382D,NA,NA,NA,NA,NA,NA
chr4,77662513,77662513,C,T,P270959_F,SHROOM3,Missense_Mutation,NM_020859,exon5,c.C3187T,p.R1063C,SNP,SNVindel,exonic,SHROOM3,NA,nonsynonymous SNV,SHROOM3:NM_020859:exon5:c.C3187T:p.R1063C,D,N,D,T,D,T
chr4,77662664,77662664,G,A,P270959_F,SHROOM3,Missense_Mutation,NM_020859,exon5,c.G3338A,p.R1113H,SNP,SNVindel,exonic,SHROOM3,NA,nonsynonymous SNV,SHROOM3:NM_020859:exon5:c.G3338A:p.R1113H,D,N,N,T,N,T
chr4,79176444,79176444,G,A,P270959_F,FRAS1,Missense_Mutation,NM_001166133,exon6,c.G518A,p.R173Q,SNP,SNVindel,exonic,FRAS1,NA,nonsynonymous SNV,"FRAS1:NM_001166133:exon6:c.G518A:p.R173Q,FRAS1:NM_025074:exon6:c.G518A:p.R173Q",T,N,N,T,N,T
chr4,81207508,81207508,G,T,P270959_F,FGF5,Missense_Mutation,NM_001291812,exon3,c.G60T,p.R20S,SNP,SNVindel,exonic,FGF5,NA,nonsynonymous SNV,"FGF5:NM_001291812:exon3:c.G60T:p.R20S,FGF5:NM_004464:exon3:c.G489T:p.R163S",D,D,D,T,D,D
chr4,82125829,82125829,C,T,P270959_F,PRKG2,Missense_Mutation,NM_001282485,exon2,c.G373A,p.V125M,SNP,SNVindel,exonic,PRKG2,NA,nonsynonymous SNV,"PRKG2:NM_001282485:exon2:c.G373A:p.V125M,PRKG2:NM_001363401:exon2:c.G373A:p.V125M,PRKG2:NM_006259:exon2:c.G373A:p.V125M",D,D,D,T,N,D
chr4,83411361,83411361,C,T,P270959_F,TMEM150C,Missense_Mutation,NM_001080506,exon7,c.G394A,p.G132R,SNP,SNVindel,exonic,TMEM150C,NA,nonsynonymous SNV,"TMEM150C:NM_001080506:exon7:c.G394A:p.G132R,TMEM150C:NM_001353454:exon7:c.G484A:p.G162R,TMEM150C:NM_001353455:exon7:c.G394A:p.G132R",D,.,D,T,D,T
chr4,91389425,91389425,C,T,P270959_F,CCSER1,Silent,NM_001145065,exon5,c.C1644T,p.A548A,SNP,SNVindel,exonic,CCSER1,NA,synonymous SNV,"CCSER1:NM_001145065:exon5:c.C1644T:p.A548A,CCSER1:NM_207491:exon5:c.C1644T:p.A548A",NA,NA,NA,NA,NA,NA
chr4,100203666,100203666,G,A,P270959_F,ADH1A,Missense_Mutation,NM_000667,exon6,c.C665T,p.A222V,SNP,SNVindel,exonic,ADH1A,NA,nonsynonymous SNV,ADH1A:NM_000667:exon6:c.C665T:p.A222V,D,N,N,T,D,T
chr4,106763279,106763279,C,T,P270959_F,GSTCD,Nonsense_Mutation,NM_001031720,exon11,c.C1753T,p.R585X,SNP,SNVindel,exonic,GSTCD,NA,stopgain,"GSTCD:NM_001031720:exon11:c.C1753T:p.R585X,GSTCD:NM_001370181:exon11:c.C1753T:p.R585X,GSTCD:NM_024751:exon11:c.C1492T:p.R498X",.,D,D,.,.,.
chr4,110605703,110605703,G,A,P270959_F,MCUB,Silent,NM_017918,exon6,c.G717A,p.T239T,SNP,SNVindel,exonic,MCUB,NA,synonymous SNV,MCUB:NM_017918:exon6:c.G717A:p.T239T,NA,NA,NA,NA,NA,NA
chr4,120107310,120107310,C,T,P270959_F,MYOZ2,Silent,NM_016599,exon6,c.C750T,p.T250T,SNP,SNVindel,exonic,MYOZ2,NA,synonymous SNV,MYOZ2:NM_016599:exon6:c.C750T:p.T250T,NA,NA,NA,NA,NA,NA
chr4,123664308,123664308,C,T,P270959_F,BBS12,Missense_Mutation,NM_152618,exon2,c.C1261T,p.R421C,SNP,SNVindel,exonic,BBS12,NA,nonsynonymous SNV,"BBS12:NM_152618:exon2:c.C1261T:p.R421C,BBS12:NM_001178007:exon3:c.C1261T:p.R421C",T,N,N,T,N,T
chr4,128694665,128694665,C,T,P270959_F,SLC25A31,Missense_Mutation,NM_031291,exon6,c.C884T,p.A295V,SNP,SNVindel,exonic,SLC25A31,NA,nonsynonymous SNV,SLC25A31:NM_031291:exon6:c.C884T:p.A295V,D,D,D,D,D,D
chr4,148985621,148985621,G,A,P270959_F,ARHGAP10,Silent,NM_024605,exon22,c.G2235A,p.S745S,SNP,SNVindel,exonic,ARHGAP10,NA,synonymous SNV,ARHGAP10:NM_024605:exon22:c.G2235A:p.S745S,NA,NA,NA,NA,NA,NA
chr4,153247194,153247194,C,T,P270959_F,FBXW7,Silent,NM_001013415,exon9,c.G1254A,p.T418T,SNP,SNVindel,exonic,FBXW7,NA,synonymous SNV,"FBXW7:NM_001013415:exon9:c.G1254A:p.T418T,FBXW7:NM_018315:exon9:c.G1368A:p.T456T,FBXW7:NM_033632:exon10:c.G1608A:p.T536T,FBXW7:NM_001349798:exon12:c.G1608A:p.T536T",NA,NA,NA,NA,NA,NA
chr4,158281097,158281097,C,T,P270959_F,GRIA2,Missense_Mutation,NM_000826,exon13,c.C2093T,p.A698V,SNP,SNVindel,exonic,GRIA2,NA,nonsynonymous SNV,"GRIA2:NM_000826:exon13:c.C2093T:p.A698V,GRIA2:NM_001083619:exon13:c.C2093T:p.A698V,GRIA2:NM_001083620:exon13:c.C1952T:p.A651V",D,D,D,T,D,T
chr4,169433082,169433082,C,T,P270959_F,PALLD,Missense_Mutation,NM_001166108,exon2,c.C427T,p.R143C,SNP,SNVindel,exonic,PALLD,NA,nonsynonymous SNV,"PALLD:NM_001166108:exon2:c.C427T:p.R143C,PALLD:NM_016081:exon2:c.C427T:p.R143C",D,U,N,T,N,T
chr4,170028151,170028151,G,A,P270959_F,SH3RF1,Missense_Mutation,NM_020870,exon11,c.C2345T,p.T782M,SNP,SNVindel,exonic,SH3RF1,NA,nonsynonymous SNV,SH3RF1:NM_020870:exon11:c.C2345T:p.T782M,D,N,N,T,N,T
chr4,183714328,183714328,C,T,P270959_F,TENM3,Missense_Mutation,NM_001080477,exon26,c.C6503T,p.A2168V,SNP,SNVindel,exonic,TENM3,NA,nonsynonymous SNV,TENM3:NM_001080477:exon26:c.C6503T:p.A2168V,T,.,D,D,D,D
chr4,187131752,187131752,G,A,P270959_F,CYP4V2,Missense_Mutation,NM_207352,exon11,c.G1535A,p.G512D,SNP,SNVindel,exonic,CYP4V2,NA,nonsynonymous SNV,CYP4V2:NM_207352:exon11:c.G1535A:p.G512D,D,D,D,T,D,D
chr4,187539784,187539784,G,A,P270959_F,FAT1,Silent,NM_005245,exon10,c.C7956T,p.S2652S,SNP,SNVindel,exonic,FAT1,NA,synonymous SNV,FAT1:NM_005245:exon10:c.C7956T:p.S2652S,NA,NA,NA,NA,NA,NA
chr5,5464499,5464499,G,A,P270959_F,ICE1,Nonsense_Mutation,NM_015325,exon13,c.G5052A,p.W1684X,SNP,SNVindel,exonic,ICE1,NA,stopgain,ICE1:NM_015325:exon13:c.G5052A:p.W1684X,.,.,A,.,.,.
chr5,9054362,9054362,G,A,P270959_F,SEMA5A,Silent,NM_003966,exon19,c.C2526T,p.G842G,SNP,SNVindel,exonic,SEMA5A,NA,synonymous SNV,SEMA5A:NM_003966:exon19:c.C2526T:p.G842G,NA,NA,NA,NA,NA,NA
chr5,14297212,14297212,C,T,P270959_F,TRIO,Missense_Mutation,NM_007118,exon7,c.C1208T,p.S403L,SNP,SNVindel,exonic,TRIO,NA,nonsynonymous SNV,TRIO:NM_007118:exon7:c.C1208T:p.S403L,T,D,D,T,D,T
chr5,32088279,32088279,C,T,P270959_F,PDZD2,Silent,NM_178140,exon20,c.C4725T,p.D1575D,SNP,SNVindel,exonic,PDZD2,NA,synonymous SNV,PDZD2:NM_178140:exon20:c.C4725T:p.D1575D,NA,NA,NA,NA,NA,NA
chr5,33535015,33535015,T,G,P270959_F,ADAMTS12,Missense_Mutation,NM_001324512,exon21,c.A4274C,p.D1425A,SNP,SNVindel,exonic,ADAMTS12,NA,nonsynonymous SNV,"ADAMTS12:NM_001324512:exon21:c.A4274C:p.D1425A,ADAMTS12:NM_030955:exon23:c.A4529C:p.D1510A",T,N,N,T,D,T
chr5,33881281,33881281,C,T,P270959_F,ADAMTS12,Silent,NM_001324511,exon2,c.G432A,p.T144T,SNP,SNVindel,exonic,ADAMTS12,NA,synonymous SNV,"ADAMTS12:NM_001324511:exon2:c.G432A:p.T144T,ADAMTS12:NM_001324512:exon2:c.G432A:p.T144T,ADAMTS12:NM_030955:exon2:c.G432A:p.T144T",NA,NA,NA,NA,NA,NA
chr5,36064400,36064400,G,A,P270959_F,UGT3A2,Silent,NM_174914,exon2,c.C147T,p.H49H,SNP,SNVindel,exonic,UGT3A2,NA,synonymous SNV,UGT3A2:NM_174914:exon2:c.C147T:p.H49H,NA,NA,NA,NA,NA,NA
chr5,40958247,40958247,G,A,P270959_F,C7,Missense_Mutation,NM_000587,exon11,c.G1373A,p.R458Q,SNP,SNVindel,exonic,C7,NA,nonsynonymous SNV,C7:NM_000587:exon11:c.G1373A:p.R458Q,T,N,N,T,N,T
chr5,43246015,43246015,G,A,P270959_F,NIM1K,Silent,NM_153361,exon2,c.G138A,p.T46T,SNP,SNVindel,exonic,NIM1K,NA,synonymous SNV,NIM1K:NM_153361:exon2:c.G138A:p.T46T,NA,NA,NA,NA,NA,NA
chr5,53815350,53815350,C,T,P270959_F,SNX18,Missense_Mutation,NM_001102575,exon1,c.C1568T,p.A523V,SNP,SNVindel,exonic,SNX18,NA,nonsynonymous SNV,"SNX18:NM_001102575:exon1:c.C1568T:p.A523V,SNX18:NM_001145427:exon1:c.C1568T:p.A523V,SNX18:NM_052870:exon1:c.C1568T:p.A523V",T,D,D,T,N,T
chr5,61661169,61661169,C,T,P270959_F,KIF2A,Missense_Mutation,NM_001098511,exon15,c.C1567T,p.R523C,SNP,SNVindel,exonic,KIF2A,NA,nonsynonymous SNV,"KIF2A:NM_001098511:exon15:c.C1567T:p.R523C,KIF2A:NM_001243953:exon15:c.C1510T:p.R504C,KIF2A:NM_004520:exon15:c.C1567T:p.R523C,KIF2A:NM_001243952:exon16:c.C1507T:p.R503C",D,D,D,T,D,D
chr5,64020321,64020321,C,T,P270959_F,SREK1IP1,Missense_Mutation,NM_173829,exon5,c.G358A,p.E120K,SNP,SNVindel,exonic,SREK1IP1,NA,nonsynonymous SNV,SREK1IP1:NM_173829:exon5:c.G358A:p.E120K,T,N,D,.,N,T
chr5,74060891,74060891,G,A,P270959_F,GFM2,Missense_Mutation,NM_001281302,exon2,c.C41T,p.T14M,SNP,SNVindel,exonic,GFM2,NA,nonsynonymous SNV,GFM2:NM_001281302:exon2:c.C41T:p.T14M,NA,NA,NA,NA,NA,NA
chr5,75427925,75427925,A,G,P270959_F,SV2C,Missense_Mutation,NM_001297716,exon2,c.A350G,p.Y117C,SNP,SNVindel,exonic,SV2C,NA,nonsynonymous SNV,"SV2C:NM_001297716:exon2:c.A350G:p.Y117C,SV2C:NM_014979:exon2:c.A350G:p.Y117C",T,N,N,T,N,T
chr5,76733214,76733214,C,T,P270959_F,WDR41,Missense_Mutation,NM_018268,exon11,c.G1040A,p.R347H,SNP,SNVindel,exonic,WDR41,NA,nonsynonymous SNV,WDR41:NM_018268:exon11:c.G1040A:p.R347H,D,D,D,T,D,D
chr5,79025024,79025024,C,T,P270959_F,CMYA5,Missense_Mutation,NM_153610,exon2,c.C436T,p.R146C,SNP,SNVindel,exonic,CMYA5,NA,nonsynonymous SNV,CMYA5:NM_153610:exon2:c.C436T:p.R146C,D,N,N,T,D,T
chr5,95728928,95728928,G,A,P270959_F,PCSK1,Missense_Mutation,NM_000439,exon14,c.C2039T,p.P680L,SNP,SNVindel,exonic,PCSK1,NA,nonsynonymous SNV,"PCSK1:NM_000439:exon14:c.C2039T:p.P680L,PCSK1:NM_001177875:exon14:c.C1898T:p.P633L",T,N,N,T,N,T
chr5,111481635,111481635,C,T,P270959_F,EPB41L4A,Missense_Mutation,NM_001347887,exon23,c.G1993A,p.A665T,SNP,SNVindel,exonic,EPB41L4A,NA,nonsynonymous SNV,EPB41L4A:NM_001347887:exon23:c.G1993A:p.A665T,NA,NA,NA,NA,NA,NA
chr5,127522204,127522204,C,T,P270959_F,SLC12A2,Nonsense_Mutation,NM_001256461,exon26,c.C3472T,p.R1158X,SNP,SNVindel,exonic,SLC12A2,NA,stopgain,"SLC12A2:NM_001256461:exon26:c.C3472T:p.R1158X,SLC12A2:NM_001046:exon27:c.C3520T:p.R1174X",.,D,D,.,.,.
chr5,130883783,130883783,C,T,P270959_F,RAPGEF6,Missense_Mutation,NM_001164386,exon6,c.G452A,p.R151H,SNP,SNVindel,exonic,RAPGEF6,NA,nonsynonymous SNV,"RAPGEF6:NM_001164386:exon6:c.G452A:p.R151H,RAPGEF6:NM_001164387:exon6:c.G452A:p.R151H,RAPGEF6:NM_001164388:exon6:c.G452A:p.R151H,RAPGEF6:NM_001164389:exon6:c.G452A:p.R151H,RAPGEF6:NM_001164390:exon6:c.G452A:p.R151H,RAPGEF6:NM_016340:exon6:c.G452A:p.R151H",D,D,N,T,N,T
chr5,131924420,131924420,C,T,P270959_F,RAD50,Nonsense_Mutation,NM_005732,exon8,c.C1093T,p.R365X,SNP,SNVindel,exonic,RAD50,NA,stopgain,RAD50:NM_005732:exon8:c.C1093T:p.R365X,.,D,A,.,.,.
chr5,133536123,133536123,C,T,P270959_F,PPP2CA,Missense_Mutation,NM_001355019,exon5,c.G446A,p.R149Q,SNP,SNVindel,exonic,PPP2CA,NA,nonsynonymous SNV,"PPP2CA:NM_001355019:exon5:c.G446A:p.R149Q,PPP2CA:NM_002715:exon5:c.G641A:p.R214Q",D,D,D,T,D,D
chr5,136328255,136328255,G,A,P270959_F,SPOCK1,Silent,NM_004598,exon7,c.C624T,p.S208S,SNP,SNVindel,exonic,SPOCK1,NA,synonymous SNV,SPOCK1:NM_004598:exon7:c.C624T:p.S208S,NA,NA,NA,NA,NA,NA
chr5,139889634,139889634,G,A,P270959_F,ANKHD1,Silent,NM_017747,exon22,c.G3972A,p.K1324K,SNP,SNVindel,exonic,ANKHD1;ANKHD1-EIF4EBP3,NA,synonymous SNV,"ANKHD1:NM_017747:exon22:c.G3972A:p.K1324K,ANKHD1-EIF4EBP3:NM_020690:exon22:c.G3972A:p.K1324K",NA,NA,NA,NA,NA,NA
chr5,140502925,140502925,G,A,P270959_F,PCDHB4,Missense_Mutation,NM_018938,exon1,c.G1345A,p.A449T,SNP,SNVindel,exonic,PCDHB4,NA,nonsynonymous SNV,PCDHB4:NM_018938:exon1:c.G1345A:p.A449T,T,.,N,T,N,T
chr5,140553607,140553607,C,T,P270959_F,PCDHB7,Silent,NM_018940,exon1,c.C1191T,p.V397V,SNP,SNVindel,exonic,PCDHB7,NA,synonymous SNV,PCDHB7:NM_018940:exon1:c.C1191T:p.V397V,NA,NA,NA,NA,NA,NA
chr5,140782613,140782613,C,T,P270959_F,PCDHGA9,Missense_Mutation,NM_018921,exon1,c.C94T,p.R32C,SNP,SNVindel,exonic,PCDHGA9,NA,nonsynonymous SNV,"PCDHGA9:NM_018921:exon1:c.C94T:p.R32C,PCDHGA9:NM_032089:exon1:c.C94T:p.R32C",.,.,D,T,.,.
chr5,141517373,141517373,G,A,P270959_F,NDFIP1,Missense_Mutation,NM_030571,exon5,c.G445A,p.A149T,SNP,SNVindel,exonic,NDFIP1,NA,nonsynonymous SNV,NDFIP1:NM_030571:exon5:c.G445A:p.A149T,D,D,D,.,D,D
chr5,149502730,149502730,G,A,P270959_F,PDGFRB,Silent,NM_001355016,exon14,c.C1866T,p.Y622Y,SNP,SNVindel,exonic,PDGFRB,NA,synonymous SNV,"PDGFRB:NM_001355016:exon14:c.C1866T:p.Y622Y,PDGFRB:NM_001355017:exon15:c.C1575T:p.Y525Y,PDGFRB:NM_002609:exon15:c.C2058T:p.Y686Y",NA,NA,NA,NA,NA,NA
chr5,149998089,149998089,G,A,P270959_F,SYNPO,Missense_Mutation,NM_001166208,exon2,c.G160A,p.D54N,SNP,SNVindel,exonic,SYNPO,NA,nonsynonymous SNV,"SYNPO:NM_001166208:exon2:c.G160A:p.D54N,SYNPO:NM_001166209:exon2:c.G160A:p.D54N",T,N,N,T,N,T
chr5,150891949,150891949,G,A,P270959_F,FAT2,Silent,NM_001447,exon20,c.C11682T,p.G3894G,SNP,SNVindel,exonic,FAT2,NA,synonymous SNV,FAT2:NM_001447:exon20:c.C11682T:p.G3894G,NA,NA,NA,NA,NA,NA
chr5,156589832,156589832,C,T,P270959_F,FAM71B,Missense_Mutation,NM_130899,exon2,c.G1444A,p.E482K,SNP,SNVindel,exonic,FAM71B,NA,nonsynonymous SNV,FAM71B:NM_130899:exon2:c.G1444A:p.E482K,T,N,N,T,N,T
chr5,156590194,156590194,G,A,P270959_F,FAM71B,Missense_Mutation,NM_130899,exon2,c.C1082T,p.A361V,SNP,SNVindel,exonic,FAM71B,NA,nonsynonymous SNV,FAM71B:NM_130899:exon2:c.C1082T:p.A361V,T,N,N,T,N,T
chr5,157078618,157078618,C,T,P270959_F,SOX30,Missense_Mutation,NM_007017,exon1,c.G469A,p.E157K,SNP,SNVindel,exonic,SOX30,NA,nonsynonymous SNV,"SOX30:NM_007017:exon1:c.G469A:p.E157K,SOX30:NM_178424:exon1:c.G469A:p.E157K",D,N,N,D,N,D
chr5,176305346,176305346,C,T,P270959_F,UNC5A,Silent,NM_133369,exon12,c.C1971T,p.H657H,SNP,SNVindel,exonic,UNC5A,NA,synonymous SNV,UNC5A:NM_133369:exon12:c.C1971T:p.H657H,NA,NA,NA,NA,NA,NA
chr5,178460273,178460273,C,T,P270959_F,ZNF879,Missense_Mutation,NM_001353374,exon4,c.C1324T,p.R442W,SNP,SNVindel,exonic,ZNF879,NA,nonsynonymous SNV,"ZNF879:NM_001353374:exon4:c.C1324T:p.R442W,ZNF879:NM_001136116:exon5:c.C1324T:p.R442W,ZNF879:NM_001353372:exon5:c.C1324T:p.R442W,ZNF879:NM_001353373:exon5:c.C1324T:p.R442W",D,.,N,T,D,T
chr5,178555009,178555009,G,A,P270959_F,ADAMTS2,Silent,NM_014244,exon17,c.C2568T,p.Y856Y,SNP,SNVindel,exonic,ADAMTS2,NA,synonymous SNV,ADAMTS2:NM_014244:exon17:c.C2568T:p.Y856Y,NA,NA,NA,NA,NA,NA
chr5,179564646,179564646,G,A,P270959_F,RASGEF1C,Missense_Mutation,NM_175062,exon3,c.C244T,p.R82W,SNP,SNVindel,exonic,RASGEF1C,NA,nonsynonymous SNV,RASGEF1C:NM_175062:exon3:c.C244T:p.R82W,D,D,D,T,D,T
chr6,12123103,12123103,G,A,P270959_F,HIVEP1,Silent,NM_002114,exon4,c.G3075A,p.T1025T,SNP,SNVindel,exonic,HIVEP1,NA,synonymous SNV,HIVEP1:NM_002114:exon4:c.G3075A:p.T1025T,NA,NA,NA,NA,NA,NA
chr6,12164097,12164097,C,T,P270959_F,HIVEP1,Silent,NM_002114,exon9,c.C7560T,p.V2520V,SNP,SNVindel,exonic,HIVEP1,NA,synonymous SNV,HIVEP1:NM_002114:exon9:c.C7560T:p.V2520V,NA,NA,NA,NA,NA,NA
chr6,16145286,16145286,C,T,P270959_F,MYLIP,Missense_Mutation,NM_013262,exon6,c.C986T,p.A329V,SNP,SNVindel,exonic,MYLIP,NA,nonsynonymous SNV,MYLIP:NM_013262:exon6:c.C986T:p.A329V,T,D,D,D,N,T
chr6,24278352,24278352,C,T,P270959_F,DCDC2,Missense_Mutation,NM_016356,exon7,c.G847A,p.V283M,SNP,SNVindel,exonic,DCDC2,NA,nonsynonymous SNV,"DCDC2:NM_016356:exon7:c.G847A:p.V283M,DCDC2:NM_001195610:exon8:c.G847A:p.V283M",T,N,N,T,N,T
chr6,24564507,24564507,A,C,P270959_F,KIAA0319,Missense_Mutation,NM_001252328,exon11,c.T587G,p.V196G,SNP,SNVindel,exonic,KIAA0319,NA,nonsynonymous SNV,"KIAA0319:NM_001252328:exon11:c.T587G:p.V196G,KIAA0319:NM_001168376:exon14:c.T2219G:p.V740G,KIAA0319:NM_001350404:exon14:c.T2336G:p.V779G,KIAA0319:NM_001350405:exon14:c.T2255G:p.V752G,KIAA0319:NM_001350406:exon14:c.T2219G:p.V740G,KIAA0319:NM_001168375:exon15:c.T2354G:p.V785G,KIAA0319:NM_001168377:exon15:c.T2354G:p.V785G,KIAA0319:NM_001350403:exon15:c.T2354G:p.V785G,KIAA0319:NM_001350407:exon15:c.T2354G:p.V785G,KIAA0319:NM_001350408:exon15:c.T2354G:p.V785G,KIAA0319:NM_014809:exon15:c.T2354G:p.V785G,KIAA0319:NM_001168374:exon16:c.T2327G:p.V776G,KIAA0319:NM_001350409:exon16:c.T1898G:p.V633G,KIAA0319:NM_001350410:exon16:c.T1898G:p.V633G",T,N,N,T,D,T
chr6,33634925,33634925,C,T,P270959_F,ITPR3,Missense_Mutation,NM_002224,exon15,c.C1571T,p.A524V,SNP,SNVindel,exonic,ITPR3,NA,nonsynonymous SNV,ITPR3:NM_002224:exon15:c.C1571T:p.A524V,D,D,D,D,D,D
chr6,42196191,42196191,G,A,P270959_F,TRERF1,Silent,NM_001297573,exon18,c.C3555T,p.D1185D,SNP,SNVindel,exonic,TRERF1,NA,synonymous SNV,"TRERF1:NM_001297573:exon18:c.C3555T:p.D1185D,TRERF1:NM_033502:exon18:c.C3495T:p.D1165D",NA,NA,NA,NA,NA,NA
chr6,45870921,45870921,G,A,P270959_F,CLIC5,Silent,NM_001114086,exon6,c.C1137T,p.N379N,SNP,SNVindel,exonic,CLIC5,NA,synonymous SNV,"CLIC5:NM_001114086:exon6:c.C1137T:p.N379N,CLIC5:NM_001370649:exon6:c.C543T:p.N181N,CLIC5:NM_016929:exon6:c.C660T:p.N220N,CLIC5:NM_001370650:exon7:c.C1137T:p.N379N",NA,NA,NA,NA,NA,NA
chr6,65523310,65523310,C,T,P270959_F,EYS,Missense_Mutation,NM_001142800,exon22,c.G3404A,p.G1135E,SNP,SNVindel,exonic,EYS,NA,nonsynonymous SNV,"EYS:NM_001142800:exon22:c.G3404A:p.G1135E,EYS:NM_001292009:exon22:c.G3404A:p.G1135E",D,D,N,D,D,D
chr6,65622472,65622472,C,T,P270959_F,EYS,Missense_Mutation,NM_001142800,exon16,c.G2546A,p.R849H,SNP,SNVindel,exonic,EYS,NA,nonsynonymous SNV,"EYS:NM_001142800:exon16:c.G2546A:p.R849H,EYS:NM_001292009:exon16:c.G2546A:p.R849H",T,N,N,D,N,T
chr6,90347523,90347523,G,A,P270959_F,LYRM2,Missense_Mutation,NM_020466,exon2,c.C124T,p.R42C,SNP,SNVindel,exonic,LYRM2,NA,nonsynonymous SNV,LYRM2:NM_020466:exon2:c.C124T:p.R42C,T,D,D,T,D,D
chr6,102516376,102516376,C,T,P270959_F,GRIK2,Missense_Mutation,NM_021956,exon16,c.C2717T,p.T906I,SNP,SNVindel,exonic,GRIK2,NA,nonsynonymous SNV,GRIK2:NM_021956:exon16:c.C2717T:p.T906I,D,D,D,T,N,T
chr6,111912830,111912830,G,T,P270959_F,TRAF3IP2,Missense_Mutation,NM_001164281,exon2,c.C460A,p.H154N,SNP,SNVindel,exonic,TRAF3IP2,NA,nonsynonymous SNV,"TRAF3IP2:NM_001164281:exon2:c.C460A:p.H154N,TRAF3IP2:NM_147686:exon2:c.C460A:p.H154N,TRAF3IP2:NM_147200:exon3:c.C487A:p.H163N",D,N,D,T,N,T
chr6,116861573,116861573,C,T,P270959_F,TRAPPC3L,Missense_Mutation,NM_001139444,exon3,c.G193A,p.V65M,SNP,SNVindel,exonic,TRAPPC3L,NA,nonsynonymous SNV,TRAPPC3L:NM_001139444:exon3:c.G193A:p.V65M,T,D,D,T,N,T
chr6,118015304,118015304,C,T,P270959_F,NUS1,Missense_Mutation,NM_138459,exon3,c.C652T,p.P218S,SNP,SNVindel,exonic,NUS1,NA,nonsynonymous SNV,NUS1:NM_138459:exon3:c.C652T:p.P218S,T,N,N,T,N,T
chr6,147123030,147123030,G,A,P270959_F,ADGB,Silent,NM_024694,exon35,c.G4701A,p.A1567A,SNP,SNVindel,exonic,ADGB,NA,synonymous SNV,ADGB:NM_024694:exon35:c.G4701A:p.A1567A,NA,NA,NA,NA,NA,NA
chr6,157527926,157527926,G,A,P270959_F,ARID1B,Missense_Mutation,NM_001363725,exon18,c.G3521A,p.R1174Q,SNP,SNVindel,exonic,ARID1B,NA,nonsynonymous SNV,"ARID1B:NM_001363725:exon18:c.G3521A:p.R1174Q,ARID1B:NM_017519:exon19:c.G5612A:p.R1871Q,ARID1B:NM_001346813:exon20:c.G5771A:p.R1924Q,ARID1B:NM_020732:exon20:c.G5651A:p.R1884Q",D,D,D,T,N,T
chr6,161470796,161470796,G,A,P270959_F,MAP3K4,Missense_Mutation,NM_001301072,exon3,c.G1492A,p.E498K,SNP,SNVindel,exonic,MAP3K4,NA,nonsynonymous SNV,"MAP3K4:NM_001301072:exon3:c.G1492A:p.E498K,MAP3K4:NM_001363582:exon3:c.G1492A:p.E498K,MAP3K4:NM_005922:exon3:c.G1492A:p.E498K,MAP3K4:NM_006724:exon3:c.G1492A:p.E498K",T,N,N,T,N,T
chr7,894593,894593,C,T,P270959_F,SUN1,Missense_Mutation,NM_001171944,exon9,c.C991T,p.R331C,SNP,SNVindel,exonic,SUN1,NA,nonsynonymous SNV,"SUN1:NM_001171944:exon9:c.C991T:p.R331C,SUN1:NM_001367708:exon10:c.C733T:p.R245C,SUN1:NM_025154:exon10:c.C1051T:p.R351C,SUN1:NM_001130965:exon11:c.C1300T:p.R434C,SUN1:NM_001367639:exon11:c.C841T:p.R281C,SUN1:NM_001367648:exon11:c.C1162T:p.R388C,SUN1:NM_001367660:exon11:c.C1117T:p.R373C,SUN1:NM_001367662:exon11:c.C1147T:p.R383C,SUN1:NM_001367670:exon11:c.C1150T:p.R384C,SUN1:NM_001367671:exon11:c.C1147T:p.R383C,SUN1:NM_001367686:exon11:c.C1132T:p.R378C,SUN1:NM_001367633:exon12:c.C1300T:p.R434C,SUN1:NM_001367642:exon12:c.C1285T:p.R429C,SUN1:NM_001367644:exon12:c.C1231T:p.R411C,SUN1:NM_001367645:exon12:c.C1261T:p.R421C,SUN1:NM_001367653:exon12:c.C1300T:p.R434C,SUN1:NM_001367658:exon12:c.C586T:p.R196C,SUN1:NM_001367665:exon12:c.C1297T:p.R433C,SUN1:NM_001367667:exon12:c.C1261T:p.R421C,SUN1:NM_001367669:exon12:c.C1327T:p.R443C,SUN1:NM_001367672:exon12:c.C1267T:p.R423C,SUN1:NM_001367679:exon12:c.C1258T:p.R420C,SUN1:NM_001367680:exon12:c.C1234T:p.R412C,SUN1:NM_001367681:exon12:c.C1348T:p.R450C,SUN1:NM_001367689:exon12:c.C1261T:p.R421C,SUN1:NM_001367694:exon12:c.C1297T:p.R433C,SUN1:NM_001367695:exon12:c.C1222T:p.R408C,SUN1:NM_001367701:exon12:c.C1201T:p.R401C,SUN1:NM_001367702:exon12:c.C1312T:p.R438C,SUN1:NM_001367704:exon12:c.C1312T:p.R438C,SUN1:NM_001367634:exon13:c.C1300T:p.R434C,SUN1:NM_001367635:exon13:c.C949T:p.R317C,SUN1:NM_001367638:exon13:c.C1408T:p.R470C,SUN1:NM_001367640:exon13:c.C1480T:p.R494C,SUN1:NM_001367646:exon13:c.C1429T:p.R477C,SUN1:NM_001367647:exon13:c.C1342T:p.R448C,SUN1:NM_001367649:exon13:c.C1345T:p.R449C,SUN1:NM_001367664:exon13:c.C1411T:p.R471C,SUN1:NM_001367668:exon13:c.C1342T:p.R448C,SUN1:NM_001367673:exon13:c.C1432T:p.R478C,SUN1:NM_001367674:exon13:c.C1498T:p.R500C,SUN1:NM_001367675:exon13:c.C1450T:p.R484C,SUN1:NM_001367676:exon13:c.C1483T:p.R495C,SUN1:NM_001367683:exon13:c.C1384T:p.R462C,SUN1:NM_001367684:exon13:c.C1459T:p.R487C,SUN1:NM_001367685:exon13:c.C1411T:p.R471C,SUN1:NM_001367688:exon13:c.C1381T:p.R461C,SUN1:NM_001367696:exon13:c.C1378T:p.R460C,SUN1:NM_001367700:exon13:c.C1510T:p.R504C,SUN1:NM_001367706:exon13:c.C1432T:p.R478C,SUN1:NM_001367636:exon14:c.C1540T:p.R514C,SUN1:NM_001367641:exon14:c.C1582T:p.R528C,SUN1:NM_001367643:exon14:c.C1492T:p.R498C,SUN1:NM_001367651:exon14:c.C1714T:p.R572C,SUN1:NM_001367655:exon14:c.C1510T:p.R504C,SUN1:NM_001367666:exon14:c.C1543T:p.R515C,SUN1:NM_001367677:exon14:c.C1606T:p.R536C,SUN1:NM_001367682:exon14:c.C1582T:p.R528C,SUN1:NM_001367690:exon14:c.C1591T:p.R531C,SUN1:NM_001367691:exon14:c.C1540T:p.R514C,SUN1:NM_001367692:exon14:c.C1609T:p.R537C,SUN1:NM_001367693:exon14:c.C1495T:p.R499C,SUN1:NM_001367697:exon14:c.C1495T:p.R499C,SUN1:NM_001367698:exon14:c.C1579T:p.R527C,SUN1:NM_001367678:exon15:c.C1690T:p.R564C,SUN1:NM_001367687:exon15:c.C1690T:p.R564C,SUN1:NM_001367699:exon15:c.C1690T:p.R564C,SUN1:NM_001367703:exon15:c.C1693T:p.R565C,SUN1:NM_001367705:exon15:c.C1693T:p.R565C",D,D,D,T,D,T
chr7,2108915,2108915,C,T,P270959_F,MAD1L1,Missense_Mutation,NM_001304524,exon10,c.G856A,p.G286S,SNP,SNVindel,exonic,MAD1L1,NA,nonsynonymous SNV,"MAD1L1:NM_001304524:exon10:c.G856A:p.G286S,MAD1L1:NM_001304523:exon11:c.G1132A:p.G378S,MAD1L1:NM_001013836:exon12:c.G1132A:p.G378S,MAD1L1:NM_001013837:exon12:c.G1132A:p.G378S,MAD1L1:NM_003550:exon12:c.G1132A:p.G378S",T,N,N,T,N,T
chr7,5401542,5401542,G,A,P270959_F,TNRC18,Silent,NM_001080495,exon13,c.C4518T,p.R1506R,SNP,SNVindel,exonic,TNRC18,NA,synonymous SNV,TNRC18:NM_001080495:exon13:c.C4518T:p.R1506R,NA,NA,NA,NA,NA,NA
chr7,5680984,5680984,C,T,P270959_F,RNF216,Missense_Mutation,NM_207111,exon15,c.G2183A,p.R728H,SNP,SNVindel,exonic,RNF216,NA,nonsynonymous SNV,"RNF216:NM_207111:exon15:c.G2183A:p.R728H,RNF216:NM_207116:exon15:c.G2012A:p.R671H",D,D,D,T,N,T
chr7,12263989,12263989,G,A,P270959_F,TMEM106B,Missense_Mutation,NM_001134232,exon4,c.G419A,p.R140H,SNP,SNVindel,exonic,TMEM106B,NA,nonsynonymous SNV,"TMEM106B:NM_001134232:exon4:c.G419A:p.R140H,TMEM106B:NM_018374:exon5:c.G419A:p.R140H",T,N,N,T,N,T
chr7,17379046,17379046,G,T,P270959_F,AHR,Missense_Mutation,NM_001621,exon10,c.G1597T,p.D533Y,SNP,SNVindel,exonic,AHR,NA,nonsynonymous SNV,AHR:NM_001621:exon10:c.G1597T:p.D533Y,D,D,D,T,D,T
chr7,18631224,18631224,A,G,P270959_F,HDAC9,Silent,NM_001204147,exon4,c.A399G,p.G133G,SNP,SNVindel,exonic,HDAC9,NA,synonymous SNV,"HDAC9:NM_001204147:exon4:c.A399G:p.G133G,HDAC9:NM_001204148:exon4:c.A408G:p.G136G,HDAC9:NM_058176:exon4:c.A492G:p.G164G,HDAC9:NM_178425:exon4:c.A501G:p.G167G,HDAC9:NM_001204145:exon5:c.A492G:p.G164G,HDAC9:NM_001204146:exon5:c.A501G:p.G167G,HDAC9:NM_001321874:exon5:c.A501G:p.G167G,HDAC9:NM_001321875:exon5:c.A507G:p.G169G,HDAC9:NM_001321876:exon5:c.A501G:p.G167G,HDAC9:NM_001321877:exon5:c.A501G:p.G167G,HDAC9:NM_001321878:exon5:c.A492G:p.G164G,HDAC9:NM_001321879:exon5:c.A501G:p.G167G,HDAC9:NM_001321884:exon5:c.A501G:p.G167G,HDAC9:NM_001321885:exon5:c.A516G:p.G172G,HDAC9:NM_001321888:exon5:c.A492G:p.G164G,HDAC9:NM_001321890:exon5:c.A492G:p.G164G,HDAC9:NM_001321891:exon5:c.A492G:p.G164G,HDAC9:NM_001321895:exon5:c.A501G:p.G167G,HDAC9:NM_001321898:exon5:c.A516G:p.G172G,HDAC9:NM_001321900:exon5:c.A492G:p.G164G,HDAC9:NM_001321901:exon5:c.A501G:p.G167G,HDAC9:NM_001321902:exon5:c.A501G:p.G167G,HDAC9:NM_014707:exon5:c.A492G:p.G164G,HDAC9:NM_178423:exon5:c.A492G:p.G164G,HDAC9:NM_001321868:exon6:c.A558G:p.G186G,HDAC9:NM_001321869:exon6:c.A567G:p.G189G,HDAC9:NM_001321870:exon6:c.A558G:p.G186G,HDAC9:NM_001321871:exon6:c.A573G:p.G191G,HDAC9:NM_001321872:exon6:c.A567G:p.G189G,HDAC9:NM_001321873:exon6:c.A567G:p.G189G,HDAC9:NM_001321886:exon6:c.A399G:p.G133G,HDAC9:NM_001321887:exon6:c.A408G:p.G136G,HDAC9:NM_001321889:exon6:c.A408G:p.G136G,HDAC9:NM_001321893:exon6:c.A492G:p.G164G,HDAC9:NM_001321894:exon6:c.A501G:p.G167G,HDAC9:NM_001321896:exon6:c.A408G:p.G136G,HDAC9:NM_001321897:exon6:c.A501G:p.G167G,HDAC9:NM_001321899:exon6:c.A501G:p.G167G,HDAC9:NM_001204144:exon7:c.A618G:p.G206G",NA,NA,NA,NA,NA,NA
chr7,20782555,20782555,G,A,P270959_F,ABCB5,Missense_Mutation,NM_178559,exon16,c.G1745A,p.R582H,SNP,SNVindel,exonic,ABCB5,NA,nonsynonymous SNV,"ABCB5:NM_178559:exon16:c.G1745A:p.R582H,ABCB5:NM_001163941:exon25:c.G3080A:p.R1027H",D,D,D,D,D,D
chr7,23349013,23349013,G,T,P270959_F,MALSU1,Nonsense_Mutation,NM_138446,exon4,c.G556T,p.E186X,SNP,SNVindel,exonic,MALSU1,NA,stopgain,MALSU1:NM_138446:exon4:c.G556T:p.E186X,.,D,D,.,.,.
chr7,24874302,24874302,G,A,P270959_F,OSBPL3,Missense_Mutation,NM_145322,exon12,c.C1348T,p.P450S,SNP,SNVindel,exonic,OSBPL3,NA,nonsynonymous SNV,"OSBPL3:NM_145322:exon12:c.C1348T:p.P450S,OSBPL3:NM_145320:exon13:c.C1456T:p.P486S,OSBPL3:NM_145321:exon13:c.C1441T:p.P481S,OSBPL3:NM_015550:exon15:c.C1549T:p.P517S",D,D,D,T,D,T
chr7,28844102,28844102,C,T,P270959_F,CREB5,Missense_Mutation,NM_001011666,exon4,c.C572T,p.S191L,SNP,SNVindel,exonic,CREB5,NA,nonsynonymous SNV,"CREB5:NM_001011666:exon4:c.C572T:p.S191L,CREB5:NM_182899:exon7:c.C890T:p.S297L,CREB5:NM_004904:exon8:c.C968T:p.S323L,CREB5:NM_182898:exon8:c.C989T:p.S330L",D,D,D,T,N,T
chr7,30490847,30490847,C,T,P270959_F,NOD1,Missense_Mutation,NM_001354849,exon6,c.G2186A,p.R729H,SNP,SNVindel,exonic,NOD1,NA,nonsynonymous SNV,"NOD1:NM_001354849:exon6:c.G2186A:p.R729H,NOD1:NM_006092:exon6:c.G2186A:p.R729H",T,N,N,T,N,T
chr7,34118518,34118518,C,T,P270959_F,BMPER,Silent,NM_001365308,exon12,c.C1128T,p.D376D,SNP,SNVindel,exonic,BMPER,NA,synonymous SNV,"BMPER:NM_001365308:exon12:c.C1128T:p.D376D,BMPER:NM_133468:exon13:c.C1128T:p.D376D",NA,NA,NA,NA,NA,NA
chr7,42085026,42085026,G,A,P270959_F,GLI3,Silent,NM_000168,exon6,c.C783T,p.A261A,SNP,SNVindel,exonic,GLI3,NA,synonymous SNV,GLI3:NM_000168:exon6:c.C783T:p.A261A,NA,NA,NA,NA,NA,NA
chr7,47479100,47479100,G,A,P270959_F,TNS3,Silent,NM_022748,exon6,c.C135T,p.H45H,SNP,SNVindel,exonic,TNS3,NA,synonymous SNV,TNS3:NM_022748:exon6:c.C135T:p.H45H,NA,NA,NA,NA,NA,NA
chr7,47944068,47944068,C,T,P270959_F,PKD1L1,Nonsense_Mutation,NM_138295,exon12,c.G1838A,p.W613X,SNP,SNVindel,exonic,PKD1L1,NA,stopgain,PKD1L1:NM_138295:exon12:c.G1838A:p.W613X,.,N,A,.,.,.
chr7,50367350,50367350,G,A,P270959_F,IKZF1,Missense_Mutation,NM_001220767,exon2,c.G157A,p.V53M,SNP,SNVindel,exonic,IKZF1,NA,nonsynonymous SNV,"IKZF1:NM_001220767:exon2:c.G157A:p.V53M,IKZF1:NM_001220768:exon2:c.G157A:p.V53M,IKZF1:NM_001220770:exon2:c.G157A:p.V53M,IKZF1:NM_001220771:exon2:c.G157A:p.V53M,IKZF1:NM_001291840:exon2:c.G157A:p.V53M,IKZF1:NM_001291841:exon2:c.G157A:p.V53M,IKZF1:NM_001291842:exon2:c.G157A:p.V53M,IKZF1:NM_001291843:exon2:c.G157A:p.V53M,IKZF1:NM_001291844:exon2:c.G157A:p.V53M,IKZF1:NM_001220765:exon3:c.G157A:p.V53M,IKZF1:NM_001291837:exon3:c.G157A:p.V53M,IKZF1:NM_001291838:exon3:c.G157A:p.V53M,IKZF1:NM_001291839:exon3:c.G157A:p.V53M,IKZF1:NM_001291845:exon3:c.G157A:p.V53M,IKZF1:NM_001291846:exon3:c.G157A:p.V53M,IKZF1:NM_001291847:exon3:c.G157A:p.V53M,IKZF1:NM_006060:exon3:c.G157A:p.V53M",T,N,N,T,N,T
chr7,50595892,50595892,C,T,P270959_F,DDC,Silent,NM_001242888,exon4,c.G423A,p.A141A,SNP,SNVindel,exonic,DDC,NA,synonymous SNV,"DDC:NM_001242888:exon4:c.G423A:p.A141A,DDC:NM_001242886:exon5:c.G543A:p.A181A,DDC:NM_000790:exon6:c.G657A:p.A219A,DDC:NM_001082971:exon6:c.G657A:p.A219A,DDC:NM_001242890:exon6:c.G657A:p.A219A",NA,NA,NA,NA,NA,NA
chr7,72754662,72754662,G,A,P270959_F,FKBP6,Missense_Mutation,NM_001281304,exon5,c.G521A,p.R174Q,SNP,SNVindel,exonic,FKBP6,NA,nonsynonymous SNV,"FKBP6:NM_001281304:exon5:c.G521A:p.R174Q,FKBP6:NM_001362789:exon5:c.G476A:p.R159Q,FKBP6:NM_001135211:exon6:c.G596A:p.R199Q,FKBP6:NM_003602:exon6:c.G611A:p.R204Q",T,N,N,T,N,T
chr7,86415854,86415854,G,A,P270959_F,GRM3,Missense_Mutation,NM_000840,exon3,c.G746A,p.R249H,SNP,SNVindel,exonic,GRM3,NA,nonsynonymous SNV,"GRM3:NM_000840:exon3:c.G746A:p.R249H,GRM3:NM_001363522:exon3:c.G746A:p.R249H",D,D,D,D,N,D
chr7,87808373,87808373,G,A,P270959_F,ADAM22,Silent,NM_001324418,exon27,c.G2424A,p.S808S,SNP,SNVindel,exonic,ADAM22,NA,synonymous SNV,"ADAM22:NM_001324418:exon27:c.G2424A:p.S808S,ADAM22:NM_001324419:exon27:c.G2421A:p.S807S,ADAM22:NM_001324420:exon27:c.G2424A:p.S808S",NA,NA,NA,NA,NA,NA
chr7,94292879,94292879,G,A,P270959_F,PEG10,Missense_Mutation,NM_001040152,exon2,c.G11A,p.R4Q,SNP,SNVindel,exonic,PEG10,NA,nonsynonymous SNV,"PEG10:NM_001040152:exon2:c.G11A:p.R4Q,PEG10:NM_001172438:exon2:c.G239A:p.R80Q,PEG10:NM_001184962:exon2:c.G113A:p.R38Q",D,.,N,T,N,T
chr7,96635412,96635412,A,G,P270959_F,DLX6,Silent,NM_005222,exon1,c.A123G,p.Q41Q,SNP,SNVindel,exonic,DLX6,NA,synonymous SNV,DLX6:NM_005222:exon1:c.A123G:p.Q41Q,NA,NA,NA,NA,NA,NA
chr7,97860574,97860574,G,A,P270959_F,TECPR1,Missense_Mutation,NM_015395,exon14,c.C2086T,p.R696C,SNP,SNVindel,exonic,TECPR1,NA,nonsynonymous SNV,TECPR1:NM_015395:exon14:c.C2086T:p.R696C,T,N,D,T,D,T
chr7,98581869,98581869,G,A,P270959_F,TRRAP,Missense_Mutation,NM_003496,exon59,c.G9101A,p.R3034Q,SNP,SNVindel,exonic,TRRAP,NA,nonsynonymous SNV,"TRRAP:NM_003496:exon59:c.G9101A:p.R3034Q,TRRAP:NM_001244580:exon60:c.G9188A:p.R3063Q",D,D,D,T,D,D
chr7,99317998,99317998,C,T,P270959_F,CYP3A7,Missense_Mutation,NM_000765,exon4,c.G256A,p.D86N,SNP,SNVindel,exonic,CYP3A7;CYP3A7-CYP3A51P,NA,nonsynonymous SNV,"CYP3A7:NM_000765:exon4:c.G256A:p.D86N,CYP3A7-CYP3A51P:NM_001256497:exon4:c.G256A:p.D86N",D,D,D,T,D,D
chr7,99700562,99700562,C,T,P270959_F,AP4M1,Silent,NM_001363671,exon4,c.C351T,p.Y117Y,SNP,SNVindel,exonic,AP4M1,NA,synonymous SNV,"AP4M1:NM_001363671:exon4:c.C351T:p.Y117Y,AP4M1:NM_004722:exon4:c.C330T:p.Y110Y",NA,NA,NA,NA,NA,NA
chr7,100645769,100645769,G,A,P270959_F,MUC12,Silent,NM_001164462,exon2,c.G11925A,p.T3975T,SNP,SNVindel,exonic,MUC12,NA,synonymous SNV,MUC12:NM_001164462:exon2:c.G11925A:p.T3975T,NA,NA,NA,NA,NA,NA
chr7,102604046,102604046,G,A,P270959_F,FBXL13,Missense_Mutation,NM_001111038,exon8,c.C658T,p.R220C,SNP,SNVindel,exonic,FBXL13,NA,nonsynonymous SNV,"FBXL13:NM_001111038:exon8:c.C658T:p.R220C,FBXL13:NM_001287150:exon8:c.C658T:p.R220C,FBXL13:NM_145032:exon8:c.C658T:p.R220C",D,D,D,T,D,T
chr7,107596022,107596022,C,T,P270959_F,LAMB1,Missense_Mutation,NM_002291,exon21,c.G2744A,p.R915H,SNP,SNVindel,exonic,LAMB1,NA,nonsynonymous SNV,LAMB1:NM_002291:exon21:c.G2744A:p.R915H,D,.,D,T,D,D
chr7,111368567,111368567,G,A,P270959_F,DOCK4,Silent,NM_014705,exon52,c.C5664T,p.G1888G,SNP,SNVindel,exonic,DOCK4,NA,synonymous SNV,"DOCK4:NM_014705:exon52:c.C5664T:p.G1888G,DOCK4:NM_001363540:exon53:c.C5691T:p.G1897G",NA,NA,NA,NA,NA,NA
chr7,128505223,128505223,C,T,P270959_F,ATP6V1F,Missense_Mutation,NM_001198909,exon2,c.C208T,p.R70C,SNP,SNVindel,exonic,ATP6V1F,NA,nonsynonymous SNV,ATP6V1F:NM_001198909:exon2:c.C208T:p.R70C,D,.,N,T,N,T
chr7,134819602,134819602,G,A,P270959_F,AGBL3,Missense_Mutation,NM_001367814,exon6,c.G241A,p.G81S,SNP,SNVindel,exonic,AGBL3,NA,nonsynonymous SNV,AGBL3:NM_001367814:exon6:c.G241A:p.G81S,NA,NA,NA,NA,NA,NA
chr7,142570171,142570171,C,T,P270959_F,TRPV6,Missense_Mutation,NM_018646,exon14,c.G1969A,p.G657R,SNP,SNVindel,exonic,TRPV6,NA,nonsynonymous SNV,TRPV6:NM_018646:exon14:c.G1969A:p.G657R,D,D,D,T,D,D
chr7,142964771,142964771,C,T,P270959_F,GSTK1,Missense_Mutation,NM_001143679,exon5,c.C650T,p.T217M,SNP,SNVindel,exonic,GSTK1,NA,nonsynonymous SNV,"GSTK1:NM_001143679:exon5:c.C650T:p.T217M,GSTK1:NM_001143680:exon5:c.C446T:p.T149M,GSTK1:NM_001143681:exon5:c.C353T:p.T118M,GSTK1:NM_015917:exon6:c.C482T:p.T161M",D,D,N,.,N,T
chr7,143039159,143039159,C,T,P270959_F,CLCN1,Nonsense_Mutation,NM_000083,exon15,c.C1720T,p.Q574X,SNP,SNVindel,exonic,CLCN1,NA,stopgain,CLCN1:NM_000083:exon15:c.C1720T:p.Q574X,.,D,A,.,.,.
chr7,149171666,149171666,G,A,P270959_F,ZNF746,Missense_Mutation,NM_001163474,exon7,c.C1747T,p.R583C,SNP,SNVindel,exonic,ZNF746,NA,nonsynonymous SNV,"ZNF746:NM_001163474:exon7:c.C1747T:p.R583C,ZNF746:NM_001363517:exon7:c.C1789T:p.R597C,ZNF746:NM_152557:exon7:c.C1744T:p.R582C",T,D,D,T,N,T
chr7,150776670,150776670,T,A,P270959_F,FASTK,Missense_Mutation,NM_001258461,exon2,c.A422T,p.D141V,SNP,SNVindel,exonic,FASTK,NA,nonsynonymous SNV,"FASTK:NM_001258461:exon2:c.A422T:p.D141V,FASTK:NM_006712:exon2:c.A422T:p.D141V",T,N,D,T,N,T
chr7,150817156,150817156,G,A,P270959_F,AGAP3,Missense_Mutation,NM_001042535,exon8,c.G1052A,p.R351H,SNP,SNVindel,exonic,AGAP3,NA,nonsynonymous SNV,"AGAP3:NM_001042535:exon8:c.G1052A:p.R351H,AGAP3:NM_001281300:exon8:c.G368A:p.R123H,AGAP3:NM_001308305:exon8:c.G1592A:p.R531H,AGAP3:NM_001350102:exon8:c.G1052A:p.R351H,AGAP3:NM_031946:exon8:c.G1052A:p.R351H",T,U,D,T,N,T
chr7,152522194,152522194,G,A,P270959_F,ACTR3B,Missense_Mutation,NM_001350943,exon7,c.G674A,p.R225H,SNP,SNVindel,exonic,ACTR3B,NA,nonsynonymous SNV,"ACTR3B:NM_001350943:exon7:c.G674A:p.R225H,ACTR3B:NM_001350940:exon8:c.G674A:p.R225H,ACTR3B:NM_001350941:exon8:c.G674A:p.R225H,ACTR3B:NM_001350946:exon8:c.G674A:p.R225H,ACTR3B:NM_001040135:exon9:c.G938A:p.R313H,ACTR3B:NM_001350942:exon9:c.G674A:p.R225H,ACTR3B:NM_001350944:exon9:c.G938A:p.R313H,ACTR3B:NM_001350945:exon9:c.G551A:p.R184H,ACTR3B:NM_020445:exon9:c.G938A:p.R313H",D,U,D,T,D,T
chr8,2037867,2037867,G,A,P270959_F,MYOM2,Missense_Mutation,NM_003970,exon15,c.G1681A,p.A561T,SNP,SNVindel,exonic,MYOM2,NA,nonsynonymous SNV,MYOM2:NM_003970:exon15:c.G1681A:p.A561T,T,D,D,T,N,T
chr8,18393374,18393374,G,A,P270959_F,PSD3,Missense_Mutation,NM_206909,exon13,c.C1421T,p.S474L,SNP,SNVindel,exonic,PSD3,NA,nonsynonymous SNV,"PSD3:NM_206909:exon13:c.C1421T:p.S474L,PSD3:NM_001362819:exon15:c.C2924T:p.S975L,PSD3:NM_015310:exon16:c.C3023T:p.S1008L",D,U,D,T,D,T
chr8,19316022,19316022,G,T,P270959_F,CSGALNACT1,Missense_Mutation,NM_001354497,exon3,c.C766A,p.L256I,SNP,SNVindel,exonic,CSGALNACT1,NA,nonsynonymous SNV,"CSGALNACT1:NM_001354497:exon3:c.C766A:p.L256I,CSGALNACT1:NM_001354476:exon4:c.C766A:p.L256I,CSGALNACT1:NM_001354483:exon4:c.C766A:p.L256I,CSGALNACT1:NM_001354490:exon4:c.C766A:p.L256I,CSGALNACT1:NM_001354492:exon4:c.C766A:p.L256I,CSGALNACT1:NM_001130518:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354475:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354477:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354481:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354484:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354485:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354487:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354488:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354489:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354494:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354495:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354496:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354498:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354499:exon5:c.C766A:p.L256I,CSGALNACT1:NM_018371:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354480:exon6:c.C766A:p.L256I,CSGALNACT1:NM_001354491:exon6:c.C766A:p.L256I",T,N,D,T,N,T
chr8,21767339,21767339,G,T,P270959_F,DOK2,Missense_Mutation,NM_001317800,exon3,c.C260A,p.A87D,SNP,SNVindel,exonic,DOK2,NA,nonsynonymous SNV,"DOK2:NM_001317800:exon3:c.C260A:p.A87D,DOK2:NM_201349:exon4:c.C260A:p.A87D,DOK2:NM_003974:exon5:c.C722A:p.A241D",D,D,D,D,D,D
chr8,21844747,21844747,G,A,P270959_F,XPO7,Missense_Mutation,NM_001362802,exon13,c.G1607A,p.R536H,SNP,SNVindel,exonic,XPO7,NA,nonsynonymous SNV,"XPO7:NM_001362802:exon13:c.G1607A:p.R536H,XPO7:NM_001100161:exon14:c.G1700A:p.R567H,XPO7:NM_015024:exon14:c.G1673A:p.R558H",D,D,D,T,D,T
chr8,23005998,23005998,G,A,P270959_F,TNFRSF10D,Missense_Mutation,NM_003840,exon3,c.C323T,p.A108V,SNP,SNVindel,exonic,TNFRSF10D,NA,nonsynonymous SNV,TNFRSF10D:NM_003840:exon3:c.C323T:p.A108V,T,U,N,D,N,T
chr8,27288461,27288461,C,T,P270959_F,PTK2B,Silent,NM_173175,exon8,c.C738T,p.C246C,SNP,SNVindel,exonic,PTK2B,NA,synonymous SNV,"PTK2B:NM_173175:exon8:c.C738T:p.C246C,PTK2B:NM_173176:exon8:c.C738T:p.C246C,PTK2B:NM_004103:exon9:c.C738T:p.C246C,PTK2B:NM_173174:exon13:c.C738T:p.C246C",NA,NA,NA,NA,NA,NA
chr8,28196933,28196933,G,A,P270959_F,PNOC,Missense_Mutation,NM_001284244,exon2,c.G311A,p.R104H,SNP,SNVindel,exonic,PNOC,NA,nonsynonymous SNV,"PNOC:NM_001284244:exon2:c.G311A:p.R104H,PNOC:NM_006228:exon3:c.G503A:p.R168H",D,N,D,T,N,D
chr8,28214261,28214261,G,A,P270959_F,ZNF395,Missense_Mutation,NM_018660,exon4,c.C509T,p.A170V,SNP,SNVindel,exonic,ZNF395,NA,nonsynonymous SNV,ZNF395:NM_018660:exon4:c.C509T:p.A170V,D,D,D,D,D,D
chr8,37914777,37914777,C,T,P270959_F,EIF4EBP1,Silent,NM_004095,exon2,c.C324T,p.G108G,SNP,SNVindel,exonic,EIF4EBP1,NA,synonymous SNV,EIF4EBP1:NM_004095:exon2:c.C324T:p.G108G,NA,NA,NA,NA,NA,NA
chr8,38139034,38139034,C,T,P270959_F,NSD3,Missense_Mutation,NM_023034,exon20,c.G3569A,p.R1190Q,SNP,SNVindel,exonic,NSD3,NA,nonsynonymous SNV,NSD3:NM_023034:exon20:c.G3569A:p.R1190Q,T,U,D,T,N,T
chr8,48686853,48686853,G,A,P270959_F,PRKDC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PRKDC,NA,unknown,UNKNOWN,.,D,D,.,.,T
chr8,55060085,55060085,C,T,P270959_F,MRPL15,Nonsense_Mutation,NM_014175,exon5,c.C697T,p.R233X,SNP,SNVindel,exonic,MRPL15,NA,stopgain,MRPL15:NM_014175:exon5:c.C697T:p.R233X,.,D,D,.,.,.
chr8,67970439,67970439,C,T,P270959_F,COPS5,Missense_Mutation,NM_006837,exon3,c.G386A,p.R129H,SNP,SNVindel,exonic,COPS5,NA,nonsynonymous SNV,COPS5:NM_006837:exon3:c.G386A:p.R129H,D,D,D,T,D,D
chr8,74464498,74464498,G,A,P270959_F,STAU2,Missense_Mutation,NM_001164383,exon8,c.C763T,p.R255C,SNP,SNVindel,exonic,STAU2,NA,nonsynonymous SNV,"STAU2:NM_001164383:exon8:c.C763T:p.R255C,STAU2:NM_001164385:exon10:c.C1165T:p.R389C,STAU2:NM_001164382:exon11:c.C967T:p.R323C,STAU2:NM_001164384:exon11:c.C1183T:p.R395C,STAU2:NM_001164381:exon12:c.C1183T:p.R395C,STAU2:NM_014393:exon12:c.C1183T:p.R395C,STAU2:NM_001164380:exon13:c.C1279T:p.R427C",D,D,D,T,D,T
chr8,77775451,77775451,T,A,P270959_F,ZFHX4,Silent,NM_024721,exon11,c.T9501A,p.P3167P,SNP,SNVindel,exonic,ZFHX4,NA,synonymous SNV,ZFHX4:NM_024721:exon11:c.T9501A:p.P3167P,NA,NA,NA,NA,NA,NA
chr8,94772156,94772156,T,G,P270959_F,TMEM67,Missense_Mutation,NM_001142301,exon4,c.T98G,p.L33R,SNP,SNVindel,exonic,TMEM67,NA,nonsynonymous SNV,TMEM67:NM_001142301:exon4:c.T98G:p.L33R,T,.,N,D,N,T
chr8,98155324,98155324,T,C,P270959_F,CPQ,Silent,NM_016134,exon8,c.T1332C,p.D444D,SNP,SNVindel,exonic,CPQ,NA,synonymous SNV,CPQ:NM_016134:exon8:c.T1332C:p.D444D,NA,NA,NA,NA,NA,NA
chr8,99440341,99440341,G,A,P270959_F,KCNS2,Missense_Mutation,NM_020697,exon2,c.G134A,p.R45H,SNP,SNVindel,exonic,KCNS2,NA,nonsynonymous SNV,KCNS2:NM_020697:exon2:c.G134A:p.R45H,D,D,D,T,D,D
chr8,100168820,100168820,G,A,P270959_F,VPS13B,Missense_Mutation,NM_015243,exon15,c.G2057A,p.R686Q,SNP,SNVindel,exonic,VPS13B,NA,nonsynonymous SNV,"VPS13B:NM_015243:exon15:c.G2057A:p.R686Q,VPS13B:NM_017890:exon15:c.G2057A:p.R686Q,VPS13B:NM_152564:exon15:c.G2057A:p.R686Q",T,D,D,T,N,T
chr8,104412767,104412767,C,A,P270959_F,SLC25A32,Missense_Mutation,NM_030780,exon7,c.G820T,p.G274C,SNP,SNVindel,exonic,SLC25A32,NA,nonsynonymous SNV,SLC25A32:NM_030780:exon7:c.G820T:p.G274C,D,D,D,D,D,D
chr8,124265917,124265917,C,T,P270959_F,ZHX1,Missense_Mutation,NM_001017926,exon3,c.G2270A,p.R757H,SNP,SNVindel,exonic,ZHX1,NA,nonsynonymous SNV,"ZHX1:NM_001017926:exon3:c.G2270A:p.R757H,ZHX1:NM_007222:exon3:c.G2270A:p.R757H",D,D,D,T,N,T
chr8,130789733,130789733,C,T,P270959_F,GSDMC,Missense_Mutation,NM_031415,exon2,c.G101A,p.R34H,SNP,SNVindel,exonic,GSDMC,NA,nonsynonymous SNV,GSDMC:NM_031415:exon2:c.G101A:p.R34H,T,N,N,T,N,T
chr8,133187703,133187703,G,A,P270959_F,KCNQ3,Silent,NM_001204824,exon5,c.C570T,p.G190G,SNP,SNVindel,exonic,KCNQ3,NA,synonymous SNV,"KCNQ3:NM_001204824:exon5:c.C570T:p.G190G,KCNQ3:NM_004519:exon5:c.C930T:p.G310G",NA,NA,NA,NA,NA,NA
chr8,133925498,133925498,G,A,P270959_F,TG,Missense_Mutation,NM_003235,exon20,c.G4366A,p.G1456R,SNP,SNVindel,exonic,TG,NA,nonsynonymous SNV,TG:NM_003235:exon20:c.G4366A:p.G1456R,T,N,N,D,N,T
chr8,134474174,134474174,G,A,P270959_F,ST3GAL1,Nonsense_Mutation,NM_003033,exon8,c.C793T,p.R265X,SNP,SNVindel,exonic,ST3GAL1,NA,stopgain,"ST3GAL1:NM_003033:exon8:c.C793T:p.R265X,ST3GAL1:NM_173344:exon9:c.C793T:p.R265X",.,D,A,.,.,.
chr8,134488072,134488072,C,T,P270959_F,ST3GAL1,Missense_Mutation,NM_003033,exon4,c.G196A,p.G66R,SNP,SNVindel,exonic,ST3GAL1,NA,nonsynonymous SNV,"ST3GAL1:NM_003033:exon4:c.G196A:p.G66R,ST3GAL1:NM_173344:exon5:c.G196A:p.G66R",T,N,N,T,N,T
chr8,144660026,144660026,G,A,P270959_F,NAPRT,Missense_Mutation,NM_001286829,exon2,c.C314T,p.T105M,SNP,SNVindel,exonic,NAPRT,NA,nonsynonymous SNV,"NAPRT:NM_001286829:exon2:c.C314T:p.T105M,NAPRT:NM_001363145:exon2:c.C314T:p.T105M,NAPRT:NM_145201:exon2:c.C314T:p.T105M",D,D,D,T,D,T
chr8,144995358,144995358,C,A,P270959_F,PLEC,Silent,NM_201378,exon32,c.G8589T,p.T2863T,SNP,SNVindel,exonic,PLEC,NA,synonymous SNV,"PLEC:NM_201378:exon32:c.G8589T:p.T2863T,PLEC:NM_201379:exon32:c.G8565T:p.T2855T,PLEC:NM_201380:exon32:c.G9042T:p.T3014T,PLEC:NM_201381:exon32:c.G8535T:p.T2845T,PLEC:NM_201382:exon32:c.G8631T:p.T2877T,PLEC:NM_201383:exon32:c.G8643T:p.T2881T,PLEC:NM_201384:exon32:c.G8631T:p.T2877T,PLEC:NM_000445:exon33:c.G8712T:p.T2904T",NA,NA,NA,NA,NA,NA
chr8,145737573,145737573,G,A,P270959_F,RECQL4,Missense_Mutation,NM_004260,exon19,c.C3190T,p.R1064C,SNP,SNVindel,exonic,RECQL4,NA,nonsynonymous SNV,RECQL4:NM_004260:exon19:c.C3190T:p.R1064C,.,.,.,.,.,.
chr8,145737592,145737592,G,A,P270959_F,RECQL4,Silent,NM_004260,exon19,c.C3171T,p.G1057G,SNP,SNVindel,exonic,RECQL4,NA,synonymous SNV,RECQL4:NM_004260:exon19:c.C3171T:p.G1057G,NA,NA,NA,NA,NA,NA
chr9,396870,396870,A,G,P270959_F,DOCK8,Missense_Mutation,NM_001190458,exon23,c.A2756G,p.D919G,SNP,SNVindel,exonic,DOCK8,NA,nonsynonymous SNV,"DOCK8:NM_001190458:exon23:c.A2756G:p.D919G,DOCK8:NM_001193536:exon24:c.A2852G:p.D951G,DOCK8:NM_203447:exon25:c.A3056G:p.D1019G",D,D,D,T,D,T
chr9,2829887,2829887,G,A,P270959_F,PUM3,Missense_Mutation,NM_014878,exon8,c.C739T,p.R247W,SNP,SNVindel,exonic,PUM3,NA,nonsynonymous SNV,PUM3:NM_014878:exon8:c.C739T:p.R247W,D,D,D,T,D,T
chr9,4844608,4844608,G,A,P270959_F,RCL1,Missense_Mutation,NM_001286701,exon3,c.G236A,p.G79D,SNP,SNVindel,exonic,RCL1,NA,nonsynonymous SNV,"RCL1:NM_001286701:exon3:c.G236A:p.G79D,RCL1:NM_001286699:exon5:c.G320A:p.G107D,RCL1:NM_001286700:exon6:c.G320A:p.G107D,RCL1:NM_005772:exon7:c.G794A:p.G265D",T,D,D,.,N,T
chr9,21971110,21971110,T,C,P270959_F,CDKN2A,Missense_Mutation,NM_000077,exon2,c.A248G,p.H83R,SNP,SNVindel,exonic,CDKN2A,NA,nonsynonymous SNV,"CDKN2A:NM_000077:exon2:c.A248G:p.H83R,CDKN2A:NM_001195132:exon2:c.A248G:p.H83R,CDKN2A:NM_001363763:exon2:c.A95G:p.H32R",D,.,D,T,D,D
chr9,21971120,21971120,G,A,P270959_F,CDKN2A,Nonsense_Mutation,NM_000077,exon2,c.C238T,p.R80X,SNP,SNVindel,exonic,CDKN2A,NA,stopgain,"CDKN2A:NM_000077:exon2:c.C238T:p.R80X,CDKN2A:NM_001195132:exon2:c.C238T:p.R80X,CDKN2A:NM_001363763:exon2:c.C85T:p.R29X",T,N,A,D,D,T
chr9,32526153,32526153,C,T,P270959_F,DDX58,Silent,NM_014314,exon1,c.G12A,p.E4E,SNP,SNVindel,exonic,DDX58,NA,synonymous SNV,DDX58:NM_014314:exon1:c.G12A:p.E4E,NA,NA,NA,NA,NA,NA
chr9,32541439,32541439,C,T,P270959_F,TOPORS,Silent,NM_001195622,exon2,c.G2889A,p.S963S,SNP,SNVindel,exonic,TOPORS,NA,synonymous SNV,"TOPORS:NM_001195622:exon2:c.G2889A:p.S963S,TOPORS:NM_005802:exon3:c.G3084A:p.S1028S",NA,NA,NA,NA,NA,NA
chr9,34257426,34257426,C,T,P270959_F,KIF24,Missense_Mutation,NM_194313,exon11,c.G2179A,p.A727T,SNP,SNVindel,exonic,KIF24,NA,nonsynonymous SNV,KIF24:NM_194313:exon11:c.G2179A:p.A727T,T,N,N,T,N,T
chr9,34311094,34311094,C,T,P270959_F,KIF24,Missense_Mutation,NM_194313,exon2,c.G251A,p.R84H,SNP,SNVindel,exonic,KIF24,NA,nonsynonymous SNV,KIF24:NM_194313:exon2:c.G251A:p.R84H,T,N,N,T,N,T
chr9,35095359,35095359,C,T,P270959_F,PIGO,Silent,NM_032634,exon2,c.G204A,p.S68S,SNP,SNVindel,exonic,PIGO,NA,synonymous SNV,"PIGO:NM_032634:exon2:c.G204A:p.S68S,PIGO:NM_152850:exon2:c.G204A:p.S68S,PIGO:NM_001201484:exon3:c.G204A:p.S68S",NA,NA,NA,NA,NA,NA
chr9,36353182,36353182,C,A,P270959_F,RNF38,Missense_Mutation,NM_194329,exon6,c.G906T,p.E302D,SNP,SNVindel,exonic,RNF38,NA,nonsynonymous SNV,"RNF38:NM_194329:exon6:c.G906T:p.E302D,RNF38:NM_194332:exon6:c.G807T:p.E269D,RNF38:NM_022781:exon7:c.G1056T:p.E352D,RNF38:NM_194328:exon7:c.G807T:p.E269D,RNF38:NM_194330:exon7:c.G807T:p.E269D",T,D,D,T,N,T
chr9,37537381,37537381,C,T,P270959_F,FBXO10,Missense_Mutation,NM_012166,exon3,c.G1145A,p.R382H,SNP,SNVindel,exonic,FBXO10,NA,nonsynonymous SNV,FBXO10:NM_012166:exon3:c.G1145A:p.R382H,D,N,D,T,N,T
chr9,37740128,37740128,G,A,P270959_F,FRMPD1,Missense_Mutation,NM_001371223,exon15,c.G1603A,p.V535I,SNP,SNVindel,exonic,FRMPD1,NA,nonsynonymous SNV,"FRMPD1:NM_001371223:exon15:c.G1603A:p.V535I,FRMPD1:NM_001371225:exon15:c.G1603A:p.V535I,FRMPD1:NM_014907:exon15:c.G1603A:p.V535I,FRMPD1:NM_001371224:exon16:c.G1603A:p.V535I",T,N,N,T,N,T
chr9,72064599,72064599,C,T,P270959_F,APBA1,Silent,NM_001163,exon10,c.G2082A,p.A694A,SNP,SNVindel,exonic,APBA1,NA,synonymous SNV,APBA1:NM_001163:exon10:c.G2082A:p.A694A,NA,NA,NA,NA,NA,NA
chr9,74360082,74360082,G,A,P270959_F,CEMIP2,Missense_Mutation,NM_001135820,exon4,c.C886T,p.R296W,SNP,SNVindel,exonic,CEMIP2,NA,nonsynonymous SNV,"CEMIP2:NM_001135820:exon4:c.C886T:p.R296W,CEMIP2:NM_013390:exon4:c.C886T:p.R296W",D,D,N,T,D,T
chr9,74365129,74365129,C,T,P270959_F,CEMIP2,Missense_Mutation,NM_001135820,exon2,c.G161A,p.R54Q,SNP,SNVindel,exonic,CEMIP2,NA,nonsynonymous SNV,"CEMIP2:NM_001135820:exon2:c.G161A:p.R54Q,CEMIP2:NM_013390:exon2:c.G161A:p.R54Q",T,N,N,T,N,T
chr9,79852980,79852980,G,A,P270959_F,VPS13A,Missense_Mutation,NM_001018037,exon18,c.G1658A,p.R553H,SNP,SNVindel,exonic,VPS13A,NA,nonsynonymous SNV,"VPS13A:NM_001018037:exon18:c.G1658A:p.R553H,VPS13A:NM_001018038:exon18:c.G1658A:p.R553H,VPS13A:NM_015186:exon18:c.G1658A:p.R553H,VPS13A:NM_033305:exon18:c.G1658A:p.R553H",T,N,N,T,N,T
chr9,91616465,91616465,G,A,P270959_F,S1PR3,Missense_Mutation,NM_005226,exon2,c.G350A,p.S117N,SNP,SNVindel,exonic,S1PR3,NA,nonsynonymous SNV,S1PR3:NM_005226:exon2:c.G350A:p.S117N,D,D,D,T,N,T
chr9,93639988,93639988,C,T,P270959_F,SYK,Silent,NM_001135052,exon9,c.C1248T,p.C416C,SNP,SNVindel,exonic,SYK,NA,synonymous SNV,"SYK:NM_001135052:exon9:c.C1248T:p.C416C,SYK:NM_001174168:exon9:c.C1248T:p.C416C,SYK:NM_001174167:exon10:c.C1317T:p.C439C,SYK:NM_003177:exon10:c.C1317T:p.C439C",NA,NA,NA,NA,NA,NA
chr9,95263287,95263287,C,T,P270959_F,ECM2,Silent,NM_001197295,exon9,c.G1587A,p.P529P,SNP,SNVindel,exonic,ECM2,NA,synonymous SNV,"ECM2:NM_001197295:exon9:c.G1587A:p.P529P,ECM2:NM_001197296:exon9:c.G1587A:p.P529P,ECM2:NM_001393:exon9:c.G1653A:p.P551P",NA,NA,NA,NA,NA,NA
chr9,98220571,98220571,C,T,P270959_F,PTCH1,Silent,NM_001354918,exon17,c.G2736A,p.P912P,SNP,SNVindel,exonic,PTCH1,NA,synonymous SNV,"PTCH1:NM_001354918:exon17:c.G2736A:p.P912P,PTCH1:NM_000264:exon18:c.G2892A:p.P964P,PTCH1:NM_001083602:exon18:c.G2694A:p.P898P,PTCH1:NM_001083603:exon18:c.G2889A:p.P963P,PTCH1:NM_001083604:exon18:c.G2439A:p.P813P,PTCH1:NM_001083605:exon18:c.G2439A:p.P813P,PTCH1:NM_001083606:exon18:c.G2439A:p.P813P,PTCH1:NM_001083607:exon18:c.G2439A:p.P813P",NA,NA,NA,NA,NA,NA
chr9,99580849,99580849,A,C,P270959_F,ZNF782,Missense_Mutation,NM_001346993,exon4,c.T1384G,p.S462A,SNP,SNVindel,exonic,ZNF782,NA,nonsynonymous SNV,"ZNF782:NM_001346993:exon4:c.T1384G:p.S462A,ZNF782:NM_001346995:exon4:c.T1060G:p.S354A,ZNF782:NM_001346991:exon5:c.T1456G:p.S486A,ZNF782:NM_001001662:exon6:c.T1456G:p.S486A",T,N,N,T,N,T
chr9,103204360,103204360,G,A,P270959_F,MSANTD3,Missense_Mutation,NM_001198812,exon1,c.G140A,p.R47H,SNP,SNVindel,exonic,MSANTD3;MSANTD3-TMEFF1,NA,nonsynonymous SNV,"MSANTD3-TMEFF1:NM_001198812:exon1:c.G140A:p.R47H,MSANTD3:NM_001198805:exon2:c.G140A:p.R47H,MSANTD3:NM_001198806:exon2:c.G140A:p.R47H,MSANTD3:NM_001198807:exon2:c.G140A:p.R47H,MSANTD3:NM_080655:exon2:c.G140A:p.R47H",D,.,D,.,N,T
chr9,104133567,104133567,G,A,P270959_F,BAAT,Silent,NM_001127610,exon2,c.C120T,p.N40N,SNP,SNVindel,exonic,BAAT,NA,synonymous SNV,"BAAT:NM_001127610:exon2:c.C120T:p.N40N,BAAT:NM_001701:exon2:c.C120T:p.N40N",NA,NA,NA,NA,NA,NA
chr9,112144692,112144692,G,A,P270959_F,PTPN3,Silent,NM_001145372,exon13,c.C1422T,p.Y474Y,SNP,SNVindel,exonic,PTPN3,NA,synonymous SNV,"PTPN3:NM_001145372:exon13:c.C1422T:p.Y474Y,PTPN3:NM_001145371:exon14:c.C1557T:p.Y519Y,PTPN3:NM_001145370:exon18:c.C1890T:p.Y630Y,PTPN3:NM_001145369:exon19:c.C2025T:p.Y675Y,PTPN3:NM_001145368:exon23:c.C2283T:p.Y761Y,PTPN3:NM_002829:exon24:c.C2418T:p.Y806Y",NA,NA,NA,NA,NA,NA
chr9,112145795,112145795,C,T,P270959_F,PTPN3,Missense_Mutation,NM_001145372,exon12,c.G1294A,p.V432I,SNP,SNVindel,exonic,PTPN3,NA,nonsynonymous SNV,"PTPN3:NM_001145372:exon12:c.G1294A:p.V432I,PTPN3:NM_001145371:exon13:c.G1429A:p.V477I,PTPN3:NM_001145370:exon17:c.G1762A:p.V588I,PTPN3:NM_001145369:exon18:c.G1897A:p.V633I,PTPN3:NM_001145368:exon22:c.G2155A:p.V719I,PTPN3:NM_002829:exon23:c.G2290A:p.V764I",T,N,N,T,N,T
chr9,114304041,114304041,G,A,P270959_F,ZNF483,Missense_Mutation,NM_133464,exon6,c.G826A,p.G276S,SNP,SNVindel,exonic,ZNF483,NA,nonsynonymous SNV,ZNF483:NM_133464:exon6:c.G826A:p.G276S,T,N,N,T,N,T
chr9,114500705,114500705,C,T,P270959_F,SHOC1,Silent,NM_001080551,exon8,c.G963A,p.K321K,SNP,SNVindel,exonic,SHOC1,NA,synonymous SNV,"SHOC1:NM_001080551:exon8:c.G963A:p.K321K,SHOC1:NM_173521:exon10:c.G1080A:p.K360K",NA,NA,NA,NA,NA,NA
chr9,115649687,115649687,G,A,P270959_F,SLC46A2,Missense_Mutation,NM_033051,exon2,c.C1136T,p.A379V,SNP,SNVindel,exonic,SLC46A2,NA,nonsynonymous SNV,SLC46A2:NM_033051:exon2:c.C1136T:p.A379V,T,D,D,T,N,T
chr9,116823774,116823774,G,A,P270959_F,AMBP,Silent,NM_001633,exon8,c.C783T,p.Y261Y,SNP,SNVindel,exonic,AMBP,NA,synonymous SNV,AMBP:NM_001633:exon8:c.C783T:p.Y261Y,NA,NA,NA,NA,NA,NA
chr9,118997754,118997754,C,T,P270959_F,PAPPA,Missense_Mutation,NM_002581,exon7,c.C2570T,p.T857M,SNP,SNVindel,exonic,PAPPA,NA,nonsynonymous SNV,PAPPA:NM_002581:exon7:c.C2570T:p.T857M,D,D,D,T,D,T
chr9,120053673,120053673,C,T,P270959_F,ASTN2,Missense_Mutation,NM_001365068,exon2,c.G562A,p.A188T,SNP,SNVindel,exonic,ASTN2,NA,nonsynonymous SNV,"ASTN2:NM_001365068:exon2:c.G562A:p.A188T,ASTN2:NM_001365069:exon2:c.G562A:p.A188T,ASTN2:NM_014010:exon2:c.G562A:p.A188T",T,N,D,T,N,T
chr9,124091559,124091559,C,T,P270959_F,GSN,Missense_Mutation,NM_000177,exon15,c.C2084T,p.T695M,SNP,SNVindel,exonic,GSN,NA,nonsynonymous SNV,"GSN:NM_000177:exon15:c.C2084T:p.T695M,GSN:NM_001127662:exon15:c.C1931T:p.T644M,GSN:NM_001258029:exon15:c.C1982T:p.T661M,GSN:NM_001258030:exon15:c.C1955T:p.T652M,GSN:NM_001353078:exon15:c.C1277T:p.T426M,GSN:NM_001353055:exon16:c.C1931T:p.T644M,GSN:NM_001353057:exon16:c.C1931T:p.T644M,GSN:NM_001353062:exon16:c.C1931T:p.T644M,GSN:NM_001353063:exon16:c.C1964T:p.T655M,GSN:NM_001353067:exon16:c.C1964T:p.T655M,GSN:NM_001353075:exon16:c.C1964T:p.T655M,GSN:NM_001353077:exon16:c.C1964T:p.T655M,GSN:NM_198252:exon16:c.C1931T:p.T644M,GSN:NM_001127663:exon17:c.C2039T:p.T680M,GSN:NM_001127664:exon17:c.C1931T:p.T644M,GSN:NM_001127665:exon17:c.C1931T:p.T644M,GSN:NM_001127666:exon17:c.C1964T:p.T655M,GSN:NM_001127667:exon17:c.C1964T:p.T655M,GSN:NM_001353056:exon17:c.C1931T:p.T644M,GSN:NM_001353058:exon17:c.C1931T:p.T644M,GSN:NM_001353059:exon17:c.C1931T:p.T644M,GSN:NM_001353060:exon17:c.C1931T:p.T644M,GSN:NM_001353061:exon17:c.C1931T:p.T644M,GSN:NM_001353070:exon17:c.C1964T:p.T655M,GSN:NM_001353076:exon17:c.C2003T:p.T668M,GSN:NM_001353064:exon18:c.C1964T:p.T655M,GSN:NM_001353065:exon18:c.C1964T:p.T655M,GSN:NM_001353066:exon18:c.C1964T:p.T655M,GSN:NM_001353068:exon18:c.C1964T:p.T655M,GSN:NM_001353069:exon18:c.C1964T:p.T655M,GSN:NM_001353071:exon18:c.C1964T:p.T655M,GSN:NM_001353072:exon18:c.C1964T:p.T655M,GSN:NM_001353074:exon18:c.C1964T:p.T655M,GSN:NM_001353073:exon19:c.C1964T:p.T655M,GSN:NM_001353053:exon24:c.C1931T:p.T644M,GSN:NM_001353054:exon24:c.C1931T:p.T644M",D,D,D,T,N,T
chr9,130932382,130932382,G,A,P270959_F,CIZ1,Missense_Mutation,NM_001257976,exon11,c.C1645T,p.P549S,SNP,SNVindel,exonic,CIZ1,NA,nonsynonymous SNV,"CIZ1:NM_001257976:exon11:c.C1645T:p.P549S,CIZ1:NM_001131016:exon12:c.C1948T:p.P650S,CIZ1:NM_001131018:exon12:c.C1708T:p.P570S,CIZ1:NM_001257975:exon12:c.C2038T:p.P680S,CIZ1:NM_012127:exon12:c.C1948T:p.P650S,CIZ1:NM_001131015:exon13:c.C1780T:p.P594S,CIZ1:NM_001131017:exon13:c.C1765T:p.P589S",D,D,D,T,N,T
chr9,131021358,131021358,G,A,P270959_F,GOLGA2,Missense_Mutation,NM_001366246,exon20,c.C1984T,p.R662C,SNP,SNVindel,exonic,GOLGA2,NA,nonsynonymous SNV,"GOLGA2:NM_001366246:exon20:c.C1984T:p.R662C,GOLGA2:NM_004486:exon20:c.C1984T:p.R662C,GOLGA2:NM_001366244:exon21:c.C2065T:p.R689C",D,N,N,T,D,T
chr9,131396553,131396553,G,A,P270959_F,WDR34,Missense_Mutation,NM_052844,exon8,c.C1324T,p.R442C,SNP,SNVindel,exonic,WDR34,NA,nonsynonymous SNV,WDR34:NM_052844:exon8:c.C1324T:p.R442C,T,D,D,T,D,T
chr9,132637846,132637846,G,A,P270959_F,USP20,Silent,NM_001008563,exon21,c.G2226A,p.P742P,SNP,SNVindel,exonic,USP20,NA,synonymous SNV,"USP20:NM_001008563:exon21:c.G2226A:p.P742P,USP20:NM_001110303:exon21:c.G2226A:p.P742P,USP20:NM_006676:exon21:c.G2226A:p.P742P",NA,NA,NA,NA,NA,NA
chr9,133945220,133945220,G,A,P270959_F,LAMC3,Missense_Mutation,NM_006059,exon17,c.G3052A,p.A1018T,SNP,SNVindel,exonic,LAMC3,NA,nonsynonymous SNV,LAMC3:NM_006059:exon17:c.G3052A:p.A1018T,T,N,N,T,N,T
chr9,134501550,134501550,G,A,P270959_F,RAPGEF1,Silent,NM_001304275,exon10,c.C1461T,p.D487D,SNP,SNVindel,exonic,RAPGEF1,NA,synonymous SNV,"RAPGEF1:NM_001304275:exon10:c.C1461T:p.D487D,RAPGEF1:NM_005312:exon10:c.C1410T:p.D470D,RAPGEF1:NM_198679:exon10:c.C1464T:p.D488D",NA,NA,NA,NA,NA,NA
chr9,138837833,138837833,G,A,P270959_F,UBAC1,Silent,NM_016172,exon6,c.C555T,p.D185D,SNP,SNVindel,exonic,UBAC1,NA,synonymous SNV,UBAC1:NM_016172:exon6:c.C555T:p.D185D,NA,NA,NA,NA,NA,NA
chr9,138903586,138903586,C,T,P270959_F,NACC2,Missense_Mutation,NM_144653,exon6,c.G1540A,p.V514M,SNP,SNVindel,exonic,NACC2,NA,nonsynonymous SNV,NACC2:NM_144653:exon6:c.G1540A:p.V514M,D,N,N,T,N,T
chr9,139100847,139100847,G,A,P270959_F,QSOX2,Silent,NM_181701,exon12,c.C1824T,p.S608S,SNP,SNVindel,exonic,QSOX2,NA,synonymous SNV,QSOX2:NM_181701:exon12:c.C1824T:p.S608S,NA,NA,NA,NA,NA,NA
chr9,139412366,139412366,C,T,P270959_F,NOTCH1,Missense_Mutation,NM_017617,exon8,c.G1279A,p.G427S,SNP,SNVindel,exonic,NOTCH1,NA,nonsynonymous SNV,NOTCH1:NM_017617:exon8:c.G1279A:p.G427S,D,D,D,D,D,D
chr9,139911032,139911032,G,A,P270959_F,ABCA2,Missense_Mutation,NM_001606,exon20,c.C2917T,p.R973C,SNP,SNVindel,exonic,ABCA2,NA,nonsynonymous SNV,"ABCA2:NM_001606:exon20:c.C2917T:p.R973C,ABCA2:NM_212533:exon20:c.C3007T:p.R1003C",T,U,D,D,N,D
chr9,140108287,140108287,G,A,P270959_F,NDOR1,Missense_Mutation,NM_001144026,exon4,c.G367A,p.A123T,SNP,SNVindel,exonic,NDOR1,NA,nonsynonymous SNV,"NDOR1:NM_001144026:exon4:c.G367A:p.A123T,NDOR1:NM_001144027:exon4:c.G367A:p.A123T,NDOR1:NM_001144028:exon4:c.G367A:p.A123T,NDOR1:NM_014434:exon4:c.G367A:p.A123T",T,D,D,T,N,T
chr9,140331138,140331138,T,C,P270959_F,ENTPD8,Silent,NM_001033113,exon6,c.A621G,p.G207G,SNP,SNVindel,exonic,ENTPD8,NA,synonymous SNV,"ENTPD8:NM_001033113:exon6:c.A621G:p.G207G,ENTPD8:NM_198585:exon6:c.A621G:p.G207G",D,.,D,T,N,T
chr9,140358794,140358794,C,T,P270959_F,PNPLA7,Missense_Mutation,NM_152286,exon26,c.G3079A,p.E1027K,SNP,SNVindel,exonic,PNPLA7,NA,nonsynonymous SNV,"PNPLA7:NM_152286:exon26:c.G3079A:p.E1027K,PNPLA7:NM_001098537:exon27:c.G3154A:p.E1052K",D,N,D,T,D,D
chr9,140361906,140361906,C,T,P270959_F,PNPLA7,Missense_Mutation,NM_152286,exon25,c.G2827A,p.V943I,SNP,SNVindel,exonic,PNPLA7,NA,nonsynonymous SNV,"PNPLA7:NM_152286:exon25:c.G2827A:p.V943I,PNPLA7:NM_001098537:exon26:c.G2902A:p.V968I",T,N,N,T,N,T
chr9,140646848,140646848,C,T,P270959_F,EHMT1,Silent,NM_001354259,exon6,c.C1143T,p.D381D,SNP,SNVindel,exonic,EHMT1,NA,synonymous SNV,"EHMT1:NM_001354259:exon6:c.C1143T:p.D381D,EHMT1:NM_001354612:exon6:c.C1143T:p.D381D,EHMT1:NM_001145527:exon7:c.C1236T:p.D412D,EHMT1:NM_001354263:exon7:c.C1215T:p.D405D,EHMT1:NM_001354611:exon7:c.C1236T:p.D412D,EHMT1:NM_024757:exon7:c.C1236T:p.D412D",NA,NA,NA,NA,NA,NA
chr10,3145991,3145991,G,A,P270959_F,PFKP,Missense_Mutation,NM_001323067,exon5,c.G394A,p.V132M,SNP,SNVindel,exonic,PFKP,NA,nonsynonymous SNV,"PFKP:NM_001323067:exon5:c.G394A:p.V132M,PFKP:NM_001323068:exon5:c.G475A:p.V159M,PFKP:NM_001345944:exon5:c.G361A:p.V121M,PFKP:NM_002627:exon5:c.G475A:p.V159M,PFKP:NM_001323071:exon6:c.G361A:p.V121M,PFKP:NM_001323072:exon6:c.G361A:p.V121M,PFKP:NM_001242339:exon7:c.G451A:p.V151M",D,N,N,T,N,T
chr10,13702543,13702543,C,A,P270959_F,FRMD4A,Missense_Mutation,NM_001318338,exon9,c.G744T,p.Q248H,SNP,SNVindel,exonic,FRMD4A,NA,nonsynonymous SNV,"FRMD4A:NM_001318338:exon9:c.G744T:p.Q248H,FRMD4A:NM_001318336:exon19:c.G1719T:p.Q573H,FRMD4A:NM_001318337:exon19:c.G1770T:p.Q590H,FRMD4A:NM_018027:exon20:c.G1671T:p.Q557H",D,D,D,D,N,T
chr10,15600119,15600119,T,C,P270959_F,ITGA8,Missense_Mutation,NM_001291494,exon25,c.A2675G,p.D892G,SNP,SNVindel,exonic,ITGA8,NA,nonsynonymous SNV,"ITGA8:NM_001291494:exon25:c.A2675G:p.D892G,ITGA8:NM_003638:exon26:c.A2720G:p.D907G",T,N,D,T,D,T
chr10,27702349,27702349,C,T,P270959_F,PTCHD3,Silent,NM_001034842,exon1,c.G831A,p.T277T,SNP,SNVindel,exonic,PTCHD3,NA,synonymous SNV,PTCHD3:NM_001034842:exon1:c.G831A:p.T277T,NA,NA,NA,NA,NA,NA
chr10,29784039,29784039,C,T,P270959_F,SVIL,Missense_Mutation,NM_003174,exon17,c.G2458A,p.V820I,SNP,SNVindel,exonic,SVIL,NA,nonsynonymous SNV,"SVIL:NM_003174:exon17:c.G2458A:p.V820I,SVIL:NM_001323600:exon18:c.G2554A:p.V852I,SVIL:NM_021738:exon19:c.G3736A:p.V1246I,SVIL:NM_001323599:exon20:c.G2806A:p.V936I",T,D,D,T,N,T
chr10,31137721,31137721,C,T,P270959_F,ZNF438,Missense_Mutation,NM_001143767,exon5,c.G1613A,p.R538Q,SNP,SNVindel,exonic,ZNF438,NA,nonsynonymous SNV,"ZNF438:NM_001143767:exon5:c.G1613A:p.R538Q,ZNF438:NM_001143768:exon6:c.G1613A:p.R538Q,ZNF438:NM_001143766:exon7:c.G1613A:p.R538Q,ZNF438:NM_001143769:exon7:c.G1466A:p.R489Q,ZNF438:NM_001143771:exon7:c.G1583A:p.R528Q,ZNF438:NM_182755:exon7:c.G1613A:p.R538Q,ZNF438:NM_001143770:exon8:c.G1583A:p.R528Q",T,D,D,T,N,T
chr10,43089401,43089401,C,G,P270959_F,ZNF33B,Missense_Mutation,NM_001305033,exon4,c.G1018C,p.E340Q,SNP,SNVindel,exonic,ZNF33B,NA,nonsynonymous SNV,"ZNF33B:NM_001305033:exon4:c.G1018C:p.E340Q,ZNF33B:NM_001305036:exon5:c.G661C:p.E221Q,ZNF33B:NM_001305037:exon5:c.G661C:p.E221Q,ZNF33B:NM_001305038:exon5:c.G661C:p.E221Q,ZNF33B:NM_006955:exon5:c.G997C:p.E333Q,ZNF33B:NM_001305035:exon6:c.G661C:p.E221Q,ZNF33B:NM_001305039:exon6:c.G661C:p.E221Q,ZNF33B:NM_001305040:exon7:c.G661C:p.E221Q",T,N,N,T,N,T
chr10,46999186,46999186,C,T,P270959_F,GPRIN2,Silent,NM_014696,exon3,c.C306T,p.G102G,SNP,SNVindel,exonic,GPRIN2,NA,synonymous SNV,GPRIN2:NM_014696:exon3:c.C306T:p.G102G,NA,NA,NA,NA,NA,NA
chr10,48383856,48383856,C,T,P270959_F,RBP3,Missense_Mutation,NM_002900,exon3,c.G3376A,p.A1126T,SNP,SNVindel,exonic,RBP3,NA,nonsynonymous SNV,RBP3:NM_002900:exon3:c.G3376A:p.A1126T,.,.,.,.,.,.
chr10,49654543,49654543,C,T,P270959_F,ARHGAP22,Missense_Mutation,NM_001256026,exon8,c.G1718A,p.R573Q,SNP,SNVindel,exonic,ARHGAP22,NA,nonsynonymous SNV,"ARHGAP22:NM_001256026:exon8:c.G1718A:p.R573Q,ARHGAP22:NM_001347735:exon9:c.G1859A:p.R620Q,ARHGAP22:NM_001256024:exon10:c.G2036A:p.R679Q,ARHGAP22:NM_001256025:exon10:c.G2006A:p.R669Q,ARHGAP22:NM_021226:exon10:c.G1988A:p.R663Q,ARHGAP22:NM_001347738:exon11:c.G2006A:p.R669Q",T,D,D,T,D,T
chr10,50122041,50122041,C,T,P270959_F,LRRC18,Missense_Mutation,NM_001006939,exon1,c.G160A,p.E54K,SNP,SNVindel,exonic,LRRC18,NA,nonsynonymous SNV,LRRC18:NM_001006939:exon1:c.G160A:p.E54K,T,D,D,T,N,T
chr10,50178246,50178246,C,T,P270959_F,WDFY4,Missense_Mutation,NM_020945,exon57,c.C8840T,p.T2947M,SNP,SNVindel,exonic,WDFY4,NA,nonsynonymous SNV,WDFY4:NM_020945:exon57:c.C8840T:p.T2947M,T,N,N,T,N,T
chr10,55839127,55839127,A,T,P270959_F,PCDH15,Silent,NM_001142765,exon15,c.T1842A,p.I614I,SNP,SNVindel,exonic,PCDH15,NA,synonymous SNV,"PCDH15:NM_001142765:exon15:c.T1842A:p.I614I,PCDH15:NM_001142767:exon16:c.T1944A:p.I648I,PCDH15:NM_001142768:exon16:c.T1989A:p.I663I,PCDH15:NM_001142773:exon16:c.T1989A:p.I663I,PCDH15:NM_001142764:exon17:c.T2055A:p.I685I,PCDH15:NM_001142766:exon17:c.T2055A:p.I685I,PCDH15:NM_001354420:exon17:c.T2055A:p.I685I,PCDH15:NM_001354429:exon17:c.T2055A:p.I685I,PCDH15:NM_001354430:exon17:c.T2055A:p.I685I,PCDH15:NM_033056:exon17:c.T2055A:p.I685I,PCDH15:NM_001142763:exon18:c.T2070A:p.I690I,PCDH15:NM_001354411:exon18:c.T2076A:p.I692I,PCDH15:NM_001354404:exon19:c.T1989A:p.I663I",NA,NA,NA,NA,NA,NA
chr10,61832248,61832248,G,A,P270959_F,ANK3,Silent,NM_020987,exon37,c.C8391T,p.N2797N,SNP,SNVindel,exonic,ANK3,NA,synonymous SNV,ANK3:NM_020987:exon37:c.C8391T:p.N2797N,NA,NA,NA,NA,NA,NA
chr10,69366755,69366755,C,T,P270959_F,CTNNA3,Missense_Mutation,NM_001127384,exon3,c.G152A,p.R51H,SNP,SNVindel,exonic,CTNNA3,NA,nonsynonymous SNV,"CTNNA3:NM_001127384:exon3:c.G152A:p.R51H,CTNNA3:NM_013266:exon3:c.G152A:p.R51H,CTNNA3:NM_001291133:exon4:c.G188A:p.R63H",D,N,D,T,D,T
chr10,72434674,72434674,C,T,P270959_F,ADAMTS14,Missense_Mutation,NM_080722,exon2,c.C445T,p.R149W,SNP,SNVindel,exonic,ADAMTS14,NA,nonsynonymous SNV,"ADAMTS14:NM_080722:exon2:c.C445T:p.R149W,ADAMTS14:NM_139155:exon2:c.C445T:p.R149W",T,N,N,T,N,T
chr10,73558150,73558150,C,T,P270959_F,CDH23,Missense_Mutation,NM_001171933,exon3,c.C149T,p.T50M,SNP,SNVindel,exonic,CDH23,NA,nonsynonymous SNV,"CDH23:NM_001171933:exon3:c.C149T:p.T50M,CDH23:NM_001171934:exon3:c.C149T:p.T50M,CDH23:NM_022124:exon48:c.C6869T:p.T2290M",D,D,D,T,N,T
chr10,75157961,75157961,C,T,P270959_F,ANXA7,Silent,NM_001320879,exon2,c.G117A,p.G39G,SNP,SNVindel,exonic,ANXA7,NA,synonymous SNV,"ANXA7:NM_001320879:exon2:c.G117A:p.G39G,ANXA7:NM_001320880:exon2:c.G117A:p.G39G,ANXA7:NM_001156:exon3:c.G237A:p.G79G,ANXA7:NM_004034:exon3:c.G237A:p.G79G",NA,NA,NA,NA,NA,NA
chr10,76788894,76788894,G,A,P270959_F,KAT6B,Missense_Mutation,NM_001370135,exon10,c.G1969A,p.E657K,SNP,SNVindel,exonic,KAT6B,NA,nonsynonymous SNV,"KAT6B:NM_001370135:exon10:c.G1969A:p.E657K,KAT6B:NM_001370133:exon11:c.G2623A:p.E875K,KAT6B:NM_001370134:exon12:c.G2227A:p.E743K,KAT6B:NM_001370143:exon15:c.G3247A:p.E1083K,KAT6B:NM_001370144:exon16:c.G3247A:p.E1083K,KAT6B:NM_001370132:exon17:c.G3274A:p.E1092K,KAT6B:NM_001370141:exon17:c.G3436A:p.E1146K,KAT6B:NM_001370142:exon17:c.G3436A:p.E1146K,KAT6B:NM_001256468:exon18:c.G3763A:p.E1255K,KAT6B:NM_001256469:exon18:c.G3436A:p.E1146K,KAT6B:NM_001370136:exon18:c.G4312A:p.E1438K,KAT6B:NM_001370137:exon18:c.G4312A:p.E1438K,KAT6B:NM_001370138:exon18:c.G3763A:p.E1255K,KAT6B:NM_001370139:exon18:c.G3436A:p.E1146K,KAT6B:NM_001370140:exon18:c.G3436A:p.E1146K,KAT6B:NM_012330:exon18:c.G4312A:p.E1438K",T,N,N,T,N,T
chr10,81052057,81052057,G,A,P270959_F,ZMIZ1,Missense_Mutation,NM_020338,exon11,c.G901A,p.A301T,SNP,SNVindel,exonic,ZMIZ1,NA,nonsynonymous SNV,ZMIZ1:NM_020338:exon11:c.G901A:p.A301T,D,U,D,T,D,T
chr10,94834680,94834680,C,T,P270959_F,CYP26A1,Nonsense_Mutation,NM_000783,exon3,c.C559T,p.R187X,SNP,SNVindel,exonic,CYP26A1,NA,stopgain,"CYP26A1:NM_000783:exon3:c.C559T:p.R187X,CYP26A1:NM_057157:exon3:c.C352T:p.R118X",.,D,A,.,.,.
chr10,95556874,95556874,C,T,P270959_F,LGI1,Nonsense_Mutation,NM_001308276,exon6,c.C844T,p.R282X,SNP,SNVindel,exonic,LGI1,NA,stopgain,"LGI1:NM_001308276:exon6:c.C844T:p.R282X,LGI1:NM_005097:exon8:c.C988T:p.R330X",.,D,D,.,.,.
chr10,97371014,97371014,G,A,P270959_F,ALDH18A1,Silent,NM_001323419,exon13,c.C1473T,p.D491D,SNP,SNVindel,exonic,ALDH18A1,NA,synonymous SNV,"ALDH18A1:NM_001323419:exon13:c.C1473T:p.D491D,ALDH18A1:NM_001323412:exon15:c.C1776T:p.D592D,ALDH18A1:NM_001323416:exon15:c.C1776T:p.D592D,ALDH18A1:NM_001323417:exon15:c.C2004T:p.D668D,ALDH18A1:NM_001323418:exon15:c.C1770T:p.D590D,ALDH18A1:NM_001017423:exon16:c.C2103T:p.D701D,ALDH18A1:NM_001323413:exon16:c.C2109T:p.D703D,ALDH18A1:NM_001323414:exon16:c.C2109T:p.D703D,ALDH18A1:NM_001323415:exon16:c.C2103T:p.D701D,ALDH18A1:NM_002860:exon16:c.C2109T:p.D703D",NA,NA,NA,NA,NA,NA
chr10,99228851,99228851,G,A,P270959_F,MMS19,Missense_Mutation,NM_001289403,exon11,c.C806T,p.T269M,SNP,SNVindel,exonic,MMS19,NA,nonsynonymous SNV,"MMS19:NM_001289403:exon11:c.C806T:p.T269M,MMS19:NM_001289404:exon11:c.C461T:p.T154M,MMS19:NM_001351357:exon11:c.C461T:p.T154M,MMS19:NM_022362:exon12:c.C935T:p.T312M,MMS19:NM_001289405:exon13:c.C935T:p.T312M,MMS19:NM_001351356:exon13:c.C1052T:p.T351M",D,D,D,T,N,T
chr10,101464346,101464346,G,A,P270959_F,ENTPD7,Missense_Mutation,NM_001349963,exon13,c.G1721A,p.R574Q,SNP,SNVindel,exonic,ENTPD7,NA,nonsynonymous SNV,"ENTPD7:NM_001349963:exon13:c.G1721A:p.R574Q,ENTPD7:NM_020354:exon13:c.G1721A:p.R574Q,ENTPD7:NM_001349962:exon14:c.G1727A:p.R576Q",D,D,D,T,N,T
chr10,102295760,102295760,G,A,P270959_F,HIF1AN,Silent,NM_017902,exon1,c.G45A,p.E15E,SNP,SNVindel,exonic,HIF1AN,NA,synonymous SNV,HIF1AN:NM_017902:exon1:c.G45A:p.E15E,NA,NA,NA,NA,NA,NA
chr10,102988279,102988279,C,T,P270959_F,LBX1,Silent,NM_006562,exon1,c.G294A,p.G98G,SNP,SNVindel,exonic,LBX1,NA,synonymous SNV,LBX1:NM_006562:exon1:c.G294A:p.G98G,NA,NA,NA,NA,NA,NA
chr10,104162035,104162035,G,A,P270959_F,NFKB2,Missense_Mutation,NM_001261403,exon22,c.G2602A,p.G868R,SNP,SNVindel,exonic,NFKB2,NA,nonsynonymous SNV,"NFKB2:NM_001261403:exon22:c.G2602A:p.G868R,NFKB2:NM_001322935:exon22:c.G2479A:p.G827R,NFKB2:NM_001077494:exon23:c.G2605A:p.G869R,NFKB2:NM_001288724:exon23:c.G2602A:p.G868R,NFKB2:NM_001322934:exon23:c.G2605A:p.G869R,NFKB2:NM_002502:exon23:c.G2602A:p.G868R",D,N,D,T,D,T
chr10,118628196,118628196,C,T,P270959_F,ENO4,Silent,NM_001242699,exon8,c.C1026T,p.H342H,SNP,SNVindel,exonic,ENO4,NA,synonymous SNV,ENO4:NM_001242699:exon8:c.C1026T:p.H342H,NA,NA,NA,NA,NA,NA
chr10,127843811,127843811,G,A,P270959_F,ADAM12,Silent,NM_001288973,exon4,c.C324T,p.L108L,SNP,SNVindel,exonic,ADAM12,NA,synonymous SNV,"ADAM12:NM_001288973:exon4:c.C324T:p.L108L,ADAM12:NM_001288974:exon4:c.C324T:p.L108L,ADAM12:NM_001288975:exon4:c.C324T:p.L108L,ADAM12:NM_003474:exon4:c.C324T:p.L108L,ADAM12:NM_021641:exon4:c.C324T:p.L108L",NA,NA,NA,NA,NA,NA
chr10,135203147,135203147,G,A,P270959_F,PAOX,Missense_Mutation,NM_152911,exon6,c.G1288A,p.A430T,SNP,SNVindel,exonic,PAOX,NA,nonsynonymous SNV,PAOX:NM_152911:exon6:c.G1288A:p.A430T,T,N,D,D,N,D
chr10,135347330,135347330,C,T,P270959_F,CYP2E1,Missense_Mutation,NM_000773,exon6,c.C896T,p.A299V,SNP,SNVindel,exonic,CYP2E1,NA,nonsynonymous SNV,CYP2E1:NM_000773:exon6:c.C896T:p.A299V,D,D,D,T,D,D
chr11,428749,428749,G,A,P270959_F,ANO9,Silent,NM_001347882,exon11,c.C561T,p.T187T,SNP,SNVindel,exonic,ANO9,NA,synonymous SNV,"ANO9:NM_001347882:exon11:c.C561T:p.T187T,ANO9:NM_001012302:exon12:c.C993T:p.T331T",NA,NA,NA,NA,NA,NA
chr11,1015932,1015932,G,A,P270959_F,MUC6,Missense_Mutation,NM_005961,exon31,c.C6869T,p.S2290L,SNP,SNVindel,exonic,MUC6,NA,nonsynonymous SNV,MUC6:NM_005961:exon31:c.C6869T:p.S2290L,D,.,N,T,N,T
chr11,1263012,1263012,G,A,P270959_F,MUC5B,Silent,NM_002458,exon31,c.G4902A,p.T1634T,SNP,SNVindel,exonic,MUC5B,NA,synonymous SNV,MUC5B:NM_002458:exon31:c.G4902A:p.T1634T,NA,NA,NA,NA,NA,NA
chr11,1271499,1271499,C,T,P270959_F,MUC5B,Silent,NM_002458,exon31,c.C13389T,p.T4463T,SNP,SNVindel,exonic,MUC5B,NA,synonymous SNV,MUC5B:NM_002458:exon31:c.C13389T:p.T4463T,NA,NA,NA,NA,NA,NA
chr11,1272427,1272427,T,C,P270959_F,MUC5B,Missense_Mutation,NM_002458,exon31,c.T14317C,p.S4773P,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.T14317C:p.S4773P,T,.,N,T,N,T
chr11,10822630,10822630,C,T,P270959_F,EIF4G2,Missense_Mutation,NM_001042559,exon14,c.G1304A,p.S435N,SNP,SNVindel,exonic,EIF4G2,NA,nonsynonymous SNV,"EIF4G2:NM_001042559:exon14:c.G1304A:p.S435N,EIF4G2:NM_001172705:exon15:c.G1418A:p.S473N,EIF4G2:NM_001418:exon15:c.G1418A:p.S473N",T,D,.,T,N,T
chr11,13514021,13514021,G,A,P270959_F,PTH,Silent,NM_000315,exon3,c.C279T,p.S93S,SNP,SNVindel,exonic,PTH,NA,synonymous SNV,"PTH:NM_000315:exon3:c.C279T:p.S93S,PTH:NM_001316352:exon3:c.C375T:p.S125S",NA,NA,NA,NA,NA,NA
chr11,15257178,15257178,C,T,P270959_F,INSC,Silent,NM_001278316,exon8,c.C1075T,p.L359L,SNP,SNVindel,exonic,INSC,NA,synonymous SNV,"INSC:NM_001278316:exon8:c.C1075T:p.L359L,INSC:NM_001278313:exon9:c.C1201T:p.L401L,INSC:NM_001278315:exon9:c.C1201T:p.L401L,INSC:NM_001031853:exon10:c.C1342T:p.L448L,INSC:NM_001042536:exon10:c.C1201T:p.L401L,INSC:NM_001278314:exon10:c.C1306T:p.L436L",NA,NA,NA,NA,NA,NA
chr11,18195223,18195223,G,A,P270959_F,MRGPRX4,Silent,NM_054032,exon1,c.G420A,p.A140A,SNP,SNVindel,exonic,MRGPRX4,NA,synonymous SNV,MRGPRX4:NM_054032:exon1:c.G420A:p.A140A,NA,NA,NA,NA,NA,NA
chr11,20968970,20968970,G,A,P270959_F,NELL1,Missense_Mutation,NM_001288714,exon10,c.G989A,p.R330H,SNP,SNVindel,exonic,NELL1,NA,nonsynonymous SNV,"NELL1:NM_001288714:exon10:c.G989A:p.R330H,NELL1:NM_006157:exon11:c.G1160A:p.R387H,NELL1:NM_201551:exon11:c.G1160A:p.R387H,NELL1:NM_001288713:exon12:c.G1244A:p.R415H",D,N,N,T,N,T
chr11,45248756,45248756,C,T,P270959_F,PRDM11,Silent,NM_001256695,exon8,c.C2580T,p.D860D,SNP,SNVindel,exonic,PRDM11,NA,synonymous SNV,PRDM11:NM_001256695:exon8:c.C2580T:p.D860D,NA,NA,NA,NA,NA,NA
chr11,45671747,45671747,G,A,P270959_F,CHST1,Missense_Mutation,NM_003654,exon4,c.C727T,p.R243C,SNP,SNVindel,exonic,CHST1,NA,nonsynonymous SNV,CHST1:NM_003654:exon4:c.C727T:p.R243C,D,D,D,T,D,D
chr11,45945780,45945780,G,A,P270959_F,LARGE2,Nonsense_Mutation,NM_001300721,exon4,c.G444A,p.W148X,SNP,SNVindel,exonic,LARGE2,NA,stopgain,"LARGE2:NM_001300721:exon4:c.G444A:p.W148X,LARGE2:NM_152312:exon4:c.G444A:p.W148X,LARGE2:NM_001300722:exon5:c.G351A:p.W117X",.,D,A,.,.,.
chr11,58972233,58972233,G,A,P270959_F,DTX4,Missense_Mutation,NM_001300727,exon9,c.G1393A,p.V465I,SNP,SNVindel,exonic,DTX4,NA,nonsynonymous SNV,"DTX4:NM_001300727:exon9:c.G1393A:p.V465I,DTX4:NM_015177:exon9:c.G1711A:p.V571I",D,D,D,T,N,T
chr11,59480631,59480631,G,A,P270959_F,OR10V1,Missense_Mutation,NM_001005324,exon1,c.C688T,p.R230W,SNP,SNVindel,exonic,OR10V1,NA,nonsynonymous SNV,OR10V1:NM_001005324:exon1:c.C688T:p.R230W,D,N,N,T,D,T
chr11,61541486,61541486,C,T,P270959_F,MYRF,Missense_Mutation,NM_001127392,exon8,c.C1163T,p.S388L,SNP,SNVindel,exonic,MYRF,NA,nonsynonymous SNV,"MYRF:NM_001127392:exon8:c.C1163T:p.S388L,MYRF:NM_013279:exon8:c.C1136T:p.S379L",D,D,D,T,D,T
chr11,61981209,61981209,C,T,P270959_F,SCGB2A1,Silent,NM_002407,exon3,c.C255T,p.Y85Y,SNP,SNVindel,exonic,SCGB2A1,NA,synonymous SNV,SCGB2A1:NM_002407:exon3:c.C255T:p.Y85Y,NA,NA,NA,NA,NA,NA
chr11,62294980,62294980,A,G,P270959_F,AHNAK,Silent,NM_001346445,exon5,c.T6909C,p.P2303P,SNP,SNVindel,exonic,AHNAK,NA,synonymous SNV,"AHNAK:NM_001346445:exon5:c.T6909C:p.P2303P,AHNAK:NM_001346446:exon5:c.T6909C:p.P2303P,AHNAK:NM_001620:exon5:c.T6909C:p.P2303P",NA,NA,NA,NA,NA,NA
chr11,64082688,64082688,C,T,P270959_F,ESRRA,Missense_Mutation,NM_001282450,exon6,c.C958T,p.R320W,SNP,SNVindel,exonic,ESRRA,NA,nonsynonymous SNV,"ESRRA:NM_001282450:exon6:c.C958T:p.R320W,ESRRA:NM_001282451:exon6:c.C955T:p.R319W,ESRRA:NM_004451:exon6:c.C958T:p.R320W",D,D,D,D,D,D
chr11,64621868,64621868,G,A,P270959_F,EHD1,Silent,NM_006795,exon5,c.C1542T,p.G514G,SNP,SNVindel,exonic,EHD1,NA,synonymous SNV,"EHD1:NM_006795:exon5:c.C1542T:p.G514G,EHD1:NM_001282445:exon6:c.C1584T:p.G528G,EHD1:NM_001282444:exon7:c.C1542T:p.G514G",NA,NA,NA,NA,NA,NA
chr11,64678511,64678511,G,A,P270959_F,ATG2A,Missense_Mutation,NM_001367971,exon10,c.C1465T,p.R489W,SNP,SNVindel,exonic,ATG2A,NA,nonsynonymous SNV,"ATG2A:NM_001367971:exon10:c.C1465T:p.R489W,ATG2A:NM_001367972:exon10:c.C1465T:p.R489W,ATG2A:NM_015104:exon10:c.C1465T:p.R489W",D,D,D,T,D,T
chr11,65341036,65341036,C,T,P270959_F,FAM89B,Missense_Mutation,NM_001098785,exon2,c.C494T,p.P165L,SNP,SNVindel,exonic,FAM89B,NA,nonsynonymous SNV,"FAM89B:NM_001098785:exon2:c.C494T:p.P165L,FAM89B:NM_152832:exon2:c.C455T:p.P152L",D,N,D,.,D,T
chr11,66050584,66050584,C,A,P270959_F,CNIH2,Missense_Mutation,NM_182553,exon4,c.C277A,p.L93I,SNP,SNVindel,exonic,CNIH2,NA,nonsynonymous SNV,CNIH2:NM_182553:exon4:c.C277A:p.L93I,T,D,D,T,N,T
chr11,66625486,66625486,G,A,P270959_F,LRFN4,Missense_Mutation,NM_024036,exon1,c.G271A,p.A91T,SNP,SNVindel,exonic,LRFN4,NA,nonsynonymous SNV,"LRFN4:NM_024036:exon1:c.G271A:p.A91T,LRFN4:NM_001363524:exon2:c.G271A:p.A91T",T,N,D,T,N,T
chr11,67049402,67049402,C,T,P270959_F,GRK2,Silent,NM_001619,exon11,c.C936T,p.F312F,SNP,SNVindel,exonic,GRK2,NA,synonymous SNV,GRK2:NM_001619:exon11:c.C936T:p.F312F,NA,NA,NA,NA,NA,NA
chr11,70263177,70263177,C,T,P270959_F,CTTN,Silent,NM_001184740,exon8,c.C516T,p.S172S,SNP,SNVindel,exonic,CTTN,NA,synonymous SNV,"CTTN:NM_001184740:exon8:c.C516T:p.S172S,CTTN:NM_005231:exon8:c.C516T:p.S172S,CTTN:NM_138565:exon8:c.C516T:p.S172S",NA,NA,NA,NA,NA,NA
chr11,70332338,70332338,C,T,P270959_F,SHANK2,Missense_Mutation,NM_133266,exon10,c.G2296A,p.E766K,SNP,SNVindel,exonic,SHANK2,NA,nonsynonymous SNV,SHANK2:NM_133266:exon10:c.G2296A:p.E766K,T,N,N,T,N,T
chr11,71189451,71189451,C,T,P270959_F,NADSYN1,Missense_Mutation,NM_018161,exon10,c.C809T,p.T270M,SNP,SNVindel,exonic,NADSYN1,NA,nonsynonymous SNV,NADSYN1:NM_018161:exon10:c.C809T:p.T270M,D,N,D,D,D,D
chr11,73744710,73744710,G,A,P270959_F,C2CD3,Silent,NM_001286577,exon31,c.C6495T,p.G2165G,SNP,SNVindel,exonic,C2CD3,NA,synonymous SNV,C2CD3:NM_001286577:exon31:c.C6495T:p.G2165G,NA,NA,NA,NA,NA,NA
chr11,75439139,75439139,G,A,P270959_F,MOGAT2,Silent,NM_025098,exon4,c.G600A,p.T200T,SNP,SNVindel,exonic,MOGAT2,NA,synonymous SNV,MOGAT2:NM_025098:exon4:c.G600A:p.T200T,NA,NA,NA,NA,NA,NA
chr11,76814207,76814207,C,T,P270959_F,OMP,Missense_Mutation,NM_006189,exon1,c.C322T,p.R108C,SNP,SNVindel,exonic,OMP,NA,nonsynonymous SNV,OMP:NM_006189:exon1:c.C322T:p.R108C,D,.,D,T,D,T
chr11,85347173,85347173,C,T,P270959_F,TMEM126B,Missense_Mutation,NM_001256547,exon4,c.C455T,p.A152V,SNP,SNVindel,exonic,TMEM126B,NA,nonsynonymous SNV,"TMEM126B:NM_001256547:exon4:c.C455T:p.A152V,TMEM126B:NM_001350393:exon4:c.C368T:p.A123V,TMEM126B:NM_018480:exon5:c.C593T:p.A198V,TMEM126B:NM_001193537:exon6:c.C533T:p.A178V,TMEM126B:NM_001193538:exon6:c.C503T:p.A168V,TMEM126B:NM_001256546:exon6:c.C503T:p.A168V",T,N,N,T,N,T
chr11,86519219,86519219,C,T,P270959_F,PRSS23,Silent,NM_001293179,exon2,c.C534T,p.H178H,SNP,SNVindel,exonic,PRSS23,NA,synonymous SNV,"PRSS23:NM_001293179:exon2:c.C534T:p.H178H,PRSS23:NM_001293180:exon2:c.C534T:p.H178H,PRSS23:NM_007173:exon2:c.C534T:p.H178H",NA,NA,NA,NA,NA,NA
chr11,87882925,87882925,T,C,P270959_F,RAB38,Missense_Mutation,NM_022337,exon2,c.A401G,p.D134G,SNP,SNVindel,exonic,RAB38,NA,nonsynonymous SNV,RAB38:NM_022337:exon2:c.A401G:p.D134G,T,D,D,T,D,T
chr11,89447443,89447443,C,T,P270959_F,TRIM77,Silent,NM_001146162,exon3,c.C591T,p.H197H,SNP,SNVindel,exonic,TRIM77,NA,synonymous SNV,TRIM77:NM_001146162:exon3:c.C591T:p.H197H,NA,NA,NA,NA,NA,NA
chr11,94924617,94924617,C,T,P270959_F,SESN3,Missense_Mutation,NM_001271594,exon3,c.G59A,p.R20H,SNP,SNVindel,exonic,SESN3,NA,nonsynonymous SNV,"SESN3:NM_001271594:exon3:c.G59A:p.R20H,SESN3:NM_144665:exon3:c.G293A:p.R98H",T,D,D,T,N,T
chr11,103093785,103093785,C,A,P270959_F,DYNC2H1,Missense_Mutation,NM_001080463,exon59,c.C9323A,p.P3108H,SNP,SNVindel,exonic,DYNC2H1,NA,nonsynonymous SNV,"DYNC2H1:NM_001080463:exon59:c.C9323A:p.P3108H,DYNC2H1:NM_001377:exon59:c.C9323A:p.P3108H",D,D,D,D,D,D
chr11,117282877,117282877,G,A,P270959_F,CEP164,Missense_Mutation,NM_001271933,exon32,c.G4361A,p.R1454H,SNP,SNVindel,exonic,CEP164,NA,nonsynonymous SNV,"CEP164:NM_001271933:exon32:c.G4361A:p.R1454H,CEP164:NM_014956:exon33:c.G4376A:p.R1459H",T,N,N,T,N,T
chr11,117376257,117376257,G,A,P270959_F,DSCAML1,Silent,NM_001367904,exon9,c.C1974T,p.S658S,SNP,SNVindel,exonic,DSCAML1,NA,synonymous SNV,"DSCAML1:NM_001367904:exon9:c.C1974T:p.S658S,DSCAML1:NM_020693:exon9:c.C1974T:p.S658S",NA,NA,NA,NA,NA,NA
chr11,117864102,117864102,C,T,P270959_F,IL10RA,Missense_Mutation,NM_001558,exon4,c.C514T,p.R172C,SNP,SNVindel,exonic,IL10RA,NA,nonsynonymous SNV,IL10RA:NM_001558:exon4:c.C514T:p.R172C,D,N,D,T,D,T
chr11,118261449,118261449,G,A,P270959_F,UBE4A,Missense_Mutation,NM_001204077,exon18,c.G2846A,p.R949Q,SNP,SNVindel,exonic,UBE4A,NA,nonsynonymous SNV,"UBE4A:NM_001204077:exon18:c.G2846A:p.R949Q,UBE4A:NM_004788:exon18:c.G2867A:p.R956Q",T,D,D,T,N,T
chr11,118984616,118984616,G,A,P270959_F,C2CD2L,Missense_Mutation,NM_001290474,exon12,c.G1541A,p.R514H,SNP,SNVindel,exonic,C2CD2L,NA,nonsynonymous SNV,"C2CD2L:NM_001290474:exon12:c.G1541A:p.R514H,C2CD2L:NM_014807:exon12:c.G1544A:p.R515H",D,D,D,T,D,T
chr11,120180222,120180222,G,A,P270959_F,POU2F3,Missense_Mutation,NM_001244682,exon10,c.G1001A,p.R334Q,SNP,SNVindel,exonic,POU2F3,NA,nonsynonymous SNV,"POU2F3:NM_001244682:exon10:c.G1001A:p.R334Q,POU2F3:NM_014352:exon10:c.G995A:p.R332Q",.,D,D,.,.,D
chr11,121477655,121477655,C,T,P270959_F,SORL1,Missense_Mutation,NM_003105,exon36,c.C5050T,p.R1684C,SNP,SNVindel,exonic,SORL1,NA,nonsynonymous SNV,SORL1:NM_003105:exon36:c.C5050T:p.R1684C,T,D,D,T,N,T
chr11,123513328,123513328,G,A,P270959_F,SCN3B,Missense_Mutation,NM_018400,exon3,c.C271T,p.R91C,SNP,SNVindel,exonic,SCN3B,NA,nonsynonymous SNV,"SCN3B:NM_018400:exon3:c.C271T:p.R91C,SCN3B:NM_001040151:exon4:c.C271T:p.R91C",D,D,D,T,D,D
chr11,126176524,126176524,G,A,P270959_F,DCPS,Silent,NM_001350236,exon2,c.G282A,p.T94T,SNP,SNVindel,exonic,DCPS,NA,synonymous SNV,"DCPS:NM_001350236:exon2:c.G282A:p.T94T,DCPS:NM_014026:exon2:c.G261A:p.T87T",NA,NA,NA,NA,NA,NA
chr11,126213259,126213259,G,A,P270959_F,DCPS,Missense_Mutation,NM_001350236,exon5,c.G715A,p.D239N,SNP,SNVindel,exonic,DCPS,NA,nonsynonymous SNV,"DCPS:NM_001350236:exon5:c.G715A:p.D239N,DCPS:NM_014026:exon5:c.G694A:p.D232N",D,D,D,D,D,D
chr11,129739935,129739935,G,A,P270959_F,NFRKB,Silent,NM_006165,exon22,c.C3060T,p.F1020F,SNP,SNVindel,exonic,NFRKB,NA,synonymous SNV,"NFRKB:NM_006165:exon22:c.C3060T:p.F1020F,NFRKB:NM_001143835:exon24:c.C2985T:p.F995F",NA,NA,NA,NA,NA,NA
chr11,130343298,130343298,C,T,P270959_F,ADAMTS15,Missense_Mutation,NM_139055,exon8,c.C2435T,p.P812L,SNP,SNVindel,exonic,ADAMTS15,NA,nonsynonymous SNV,ADAMTS15:NM_139055:exon8:c.C2435T:p.P812L,T,.,D,T,N,T
chr12,4919993,4919993,C,A,P270959_F,KCNA6,Silent,NM_002235,exon1,c.C786A,p.P262P,SNP,SNVindel,exonic,KCNA6,NA,synonymous SNV,KCNA6:NM_002235:exon1:c.C786A:p.P262P,NA,NA,NA,NA,NA,NA
chr12,6128463,6128463,C,T,P270959_F,VWF,Missense_Mutation,NM_000552,exon28,c.G4121A,p.R1374H,SNP,SNVindel,exonic,VWF,NA,nonsynonymous SNV,VWF:NM_000552:exon28:c.G4121A:p.R1374H,D,D,D,D,N,D
chr12,6702752,6702752,C,T,P270959_F,CHD4,Missense_Mutation,NM_001297553,exon15,c.G2323A,p.A775T,SNP,SNVindel,exonic,CHD4,NA,nonsynonymous SNV,"CHD4:NM_001297553:exon15:c.G2323A:p.A775T,CHD4:NM_001273:exon16:c.G2344A:p.A782T,CHD4:NM_001363606:exon16:c.G2305A:p.A769T",D,D,D,D,D,D
chr12,6954961,6954961,G,A,P270959_F,GNB3,Missense_Mutation,NM_001297571,exon9,c.G908A,p.R303H,SNP,SNVindel,exonic,GNB3,NA,nonsynonymous SNV,"GNB3:NM_001297571:exon9:c.G908A:p.R303H,GNB3:NM_002075:exon9:c.G911A:p.R304H",T,D,D,T,D,T
chr12,12982484,12982484,G,A,P270959_F,DDX47,Missense_Mutation,NM_201224,exon11,c.G1217A,p.R406H,SNP,SNVindel,exonic,DDX47,NA,nonsynonymous SNV,"DDX47:NM_201224:exon11:c.G1217A:p.R406H,DDX47:NM_016355:exon12:c.G1364A:p.R455H",D,N,N,T,N,T
chr12,19413914,19413914,G,A,P270959_F,PLEKHA5,Missense_Mutation,NM_001256787,exon5,c.G245A,p.R82H,SNP,SNVindel,exonic,PLEKHA5,NA,nonsynonymous SNV,"PLEKHA5:NM_001256787:exon5:c.G245A:p.R82H,PLEKHA5:NM_001143821:exon7:c.G569A:p.R190H,PLEKHA5:NM_001256470:exon7:c.G569A:p.R190H,PLEKHA5:NM_019012:exon7:c.G569A:p.R190H",D,D,D,T,D,T
chr12,31256844,31256844,C,T,P270959_F,DDX11,Silent,NM_001257144,exon27,c.C2790T,p.G930G,SNP,SNVindel,exonic,DDX11,NA,synonymous SNV,"DDX11:NM_001257144:exon27:c.C2790T:p.G930G,DDX11:NM_152438:exon27:c.C2790T:p.G930G",NA,NA,NA,NA,NA,NA
chr12,31562304,31562304,C,T,P270959_F,DENND5B,Missense_Mutation,NM_144973,exon14,c.G2696A,p.R899Q,SNP,SNVindel,exonic,DENND5B,NA,nonsynonymous SNV,"DENND5B:NM_144973:exon14:c.G2696A:p.R899Q,DENND5B:NM_001308339:exon16:c.G2801A:p.R934Q",D,D,D,T,D,T
chr12,40838042,40838042,A,C,P270959_F,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,49496262,49496262,C,T,P270959_F,LMBR1L,Missense_Mutation,NM_001352162,exon7,c.G584A,p.R195H,SNP,SNVindel,exonic,LMBR1L,NA,nonsynonymous SNV,"LMBR1L:NM_001352162:exon7:c.G584A:p.R195H,LMBR1L:NM_001352167:exon7:c.G134A:p.R45H,LMBR1L:NM_001352163:exon8:c.G377A:p.R126H,LMBR1L:NM_001352164:exon8:c.G377A:p.R126H,LMBR1L:NM_001352166:exon8:c.G377A:p.R126H,LMBR1L:NM_001352168:exon8:c.G134A:p.R45H,LMBR1L:NM_001300751:exon9:c.G758A:p.R253H,LMBR1L:NM_001352161:exon9:c.G758A:p.R253H,LMBR1L:NM_001352165:exon9:c.G377A:p.R126H,LMBR1L:NM_018113:exon9:c.G758A:p.R253H,LMBR1L:NM_001300750:exon10:c.G743A:p.R248H",D,N,D,T,D,T
chr12,49919805,49919805,C,T,P270959_F,SPATS2,Missense_Mutation,NM_001293286,exon13,c.C1405T,p.R469W,SNP,SNVindel,exonic,SPATS2,NA,nonsynonymous SNV,"SPATS2:NM_001293286:exon13:c.C1405T:p.R469W,SPATS2:NM_023071:exon14:c.C1405T:p.R469W,SPATS2:NM_001293285:exon15:c.C1405T:p.R469W",D,N,D,.,N,T
chr12,49994259,49994259,C,T,P270959_F,FAM186B,Silent,NM_032130,exon4,c.G1164A,p.G388G,SNP,SNVindel,exonic,FAM186B,NA,synonymous SNV,FAM186B:NM_032130:exon4:c.G1164A:p.G388G,NA,NA,NA,NA,NA,NA
chr12,50452649,50452649,T,A,P270959_F,ASIC1,Missense_Mutation,NM_001095,exon2,c.T100A,p.F34I,SNP,SNVindel,exonic,ASIC1,NA,nonsynonymous SNV,"ASIC1:NM_001095:exon2:c.T100A:p.F34I,ASIC1:NM_020039:exon2:c.T100A:p.F34I",D,D,D,T,D,T
chr12,52841059,52841059,C,T,P270959_F,KRT6B,Missense_Mutation,NM_005555,exon9,c.G1610A,p.G537D,SNP,SNVindel,exonic,KRT6B,NA,nonsynonymous SNV,KRT6B:NM_005555:exon9:c.G1610A:p.G537D,T,D,D,D,N,D
chr12,52938505,52938505,G,A,P270959_F,KRT71,Silent,NM_033448,exon9,c.C1383T,p.G461G,SNP,SNVindel,exonic,KRT71,NA,synonymous SNV,KRT71:NM_033448:exon9:c.C1383T:p.G461G,NA,NA,NA,NA,NA,NA
chr12,56332729,56332729,C,T,P270959_F,DGKA,Nonsense_Mutation,NM_001345,exon7,c.C430T,p.R144X,SNP,SNVindel,exonic,DGKA,NA,stopgain,"DGKA:NM_001345:exon7:c.C430T:p.R144X,DGKA:NM_001351033:exon7:c.C430T:p.R144X,DGKA:NM_001351035:exon7:c.C544T:p.R182X,DGKA:NM_001351036:exon7:c.C7T:p.R3X,DGKA:NM_001351037:exon7:c.C7T:p.R3X,DGKA:NM_201444:exon7:c.C430T:p.R144X,DGKA:NM_201554:exon7:c.C430T:p.R144X,DGKA:NM_001351034:exon8:c.C430T:p.R144X,DGKA:NM_201445:exon8:c.C430T:p.R144X",.,D,A,.,.,.
chr12,56992710,56992710,G,A,P270959_F,BAZ2A,Missense_Mutation,NM_001300905,exon28,c.C5488T,p.R1830C,SNP,SNVindel,exonic,BAZ2A,NA,nonsynonymous SNV,"BAZ2A:NM_001300905:exon28:c.C5488T:p.R1830C,BAZ2A:NM_013449:exon28:c.C5494T:p.R1832C,BAZ2A:NM_001351156:exon30:c.C5398T:p.R1800C",D,D,D,T,D,T
chr12,57106613,57106613,C,T,P270959_F,NACA,Missense_Mutation,NM_001113201,exon7,c.G590A,p.R197Q,SNP,SNVindel,exonic,NACA,NA,nonsynonymous SNV,"NACA:NM_001113201:exon7:c.G590A:p.R197Q,NACA:NM_001113202:exon7:c.G590A:p.R197Q,NACA:NM_001320193:exon7:c.G590A:p.R197Q,NACA:NM_001320194:exon7:c.G590A:p.R197Q,NACA:NM_005594:exon7:c.G590A:p.R197Q,NACA:NM_001365896:exon8:c.G6179A:p.R2060Q,NACA:NM_001113203:exon10:c.G2720A:p.R907Q",T,D,D,T,D,T
chr12,57860101,57860101,C,T,P270959_F,GLI1,Missense_Mutation,NM_001160045,exon6,c.C457T,p.P153S,SNP,SNVindel,exonic,GLI1,NA,nonsynonymous SNV,"GLI1:NM_001160045:exon6:c.C457T:p.P153S,GLI1:NM_001167609:exon7:c.C718T:p.P240S,GLI1:NM_005269:exon8:c.C841T:p.P281S",D,D,D,D,D,D
chr12,58001299,58001299,G,A,P270959_F,DTX3,Missense_Mutation,NM_001286245,exon4,c.G662A,p.R221Q,SNP,SNVindel,exonic,DTX3,NA,nonsynonymous SNV,"DTX3:NM_001286245:exon4:c.G662A:p.R221Q,DTX3:NM_001286246:exon4:c.G653A:p.R218Q,DTX3:NM_178502:exon5:c.G653A:p.R218Q",T,N,N,T,N,T
chr12,58022562,58022562,G,A,P270959_F,B4GALNT1,Silent,NM_001276468,exon7,c.C771T,p.D257D,SNP,SNVindel,exonic,B4GALNT1,NA,synonymous SNV,"B4GALNT1:NM_001276468:exon7:c.C771T:p.D257D,B4GALNT1:NM_001478:exon8:c.C936T:p.D312D",NA,NA,NA,NA,NA,NA
chr12,58090074,58090074,G,A,P270959_F,OS9,Missense_Mutation,NM_001261423,exon4,c.G320A,p.R107H,SNP,SNVindel,exonic,OS9,NA,nonsynonymous SNV,"OS9:NM_001261423:exon4:c.G320A:p.R107H,OS9:NM_001017956:exon5:c.G497A:p.R166H,OS9:NM_001017957:exon5:c.G497A:p.R166H,OS9:NM_001017958:exon5:c.G497A:p.R166H,OS9:NM_001261420:exon5:c.G497A:p.R166H,OS9:NM_006812:exon5:c.G497A:p.R166H",D,D,D,T,D,T
chr12,64609657,64609657,G,A,P270959_F,C12orf66,Missense_Mutation,NM_001300940,exon2,c.C322T,p.R108C,SNP,SNVindel,exonic,C12orf66,NA,nonsynonymous SNV,"C12orf66:NM_001300940:exon2:c.C322T:p.R108C,C12orf66:NM_001300941:exon2:c.C163T:p.R55C,C12orf66:NM_152440:exon2:c.C322T:p.R108C",T,D,D,T,N,T
chr12,66788073,66788073,G,C,P270959_F,GRIP1,Missense_Mutation,NM_001178074,exon16,c.C1888G,p.P630A,SNP,SNVindel,exonic,GRIP1,NA,nonsynonymous SNV,"GRIP1:NM_001178074:exon16:c.C1888G:p.P630A,GRIP1:NM_001366723:exon16:c.C1963G:p.P655A,GRIP1:NM_001366724:exon16:c.C1966G:p.P656A,GRIP1:NM_021150:exon16:c.C1888G:p.P630A,GRIP1:NM_001366722:exon17:c.C2044G:p.P682A",D,D,D,T,D,T
chr12,66850035,66850035,G,A,P270959_F,GRIP1,Missense_Mutation,NM_001366722,exon10,c.C1130T,p.T377M,SNP,SNVindel,exonic,GRIP1,NA,nonsynonymous SNV,GRIP1:NM_001366722:exon10:c.C1130T:p.T377M,D,N,D,T,N,T
chr12,77423975,77423975,G,A,P270959_F,E2F7,Missense_Mutation,NM_203394,exon10,c.C1520T,p.T507M,SNP,SNVindel,exonic,E2F7,NA,nonsynonymous SNV,E2F7:NM_203394:exon10:c.C1520T:p.T507M,D,N,N,T,N,T
chr12,81688767,81688767,G,A,P270959_F,PPFIA2,Silent,NM_001220479,exon14,c.C1473T,p.N491N,SNP,SNVindel,exonic,PPFIA2,NA,synonymous SNV,"PPFIA2:NM_001220479:exon14:c.C1473T:p.N491N,PPFIA2:NM_001220480:exon15:c.C423T:p.N141N,PPFIA2:NM_001220478:exon20:c.C2475T:p.N825N,PPFIA2:NM_001220477:exon21:c.C2550T:p.N850N,PPFIA2:NM_001282536:exon21:c.C2313T:p.N771N,PPFIA2:NM_001220473:exon23:c.C2772T:p.N924N,PPFIA2:NM_001220474:exon23:c.C2727T:p.N909N,PPFIA2:NM_001220475:exon23:c.C2772T:p.N924N,PPFIA2:NM_001220476:exon23:c.C2772T:p.N924N,PPFIA2:NM_003625:exon24:c.C2772T:p.N924N",NA,NA,NA,NA,NA,NA
chr12,101581284,101581284,G,A,P270959_F,SLC5A8,Silent,NM_145913,exon7,c.C843T,p.Y281Y,SNP,SNVindel,exonic,SLC5A8,NA,synonymous SNV,SLC5A8:NM_145913:exon7:c.C843T:p.Y281Y,NA,NA,NA,NA,NA,NA
chr12,102040599,102040599,A,G,P270959_F,MYBPC1,Missense_Mutation,NM_001254722,exon9,c.A871G,p.T291A,SNP,SNVindel,exonic,MYBPC1,NA,nonsynonymous SNV,"MYBPC1:NM_001254722:exon9:c.A871G:p.T291A,MYBPC1:NM_001254720:exon10:c.A913G:p.T305A,MYBPC1:NM_001254721:exon10:c.A892G:p.T298A,MYBPC1:NM_001254723:exon10:c.A910G:p.T304A,MYBPC1:NM_001254718:exon11:c.A949G:p.T317A,MYBPC1:NM_001254719:exon11:c.A949G:p.T317A,MYBPC1:NM_206820:exon11:c.A949G:p.T317A,MYBPC1:NM_206821:exon11:c.A949G:p.T317A,MYBPC1:NM_002465:exon13:c.A1024G:p.T342A,MYBPC1:NM_206819:exon13:c.A1024G:p.T342A",T,N,D,T,N,T
chr12,104496821,104496821,C,T,P270959_F,HCFC2,Missense_Mutation,NM_013320,exon15,c.C2149T,p.R717C,SNP,SNVindel,exonic,HCFC2,NA,nonsynonymous SNV,HCFC2:NM_013320:exon15:c.C2149T:p.R717C,D,D,D,T,D,T
chr12,106460791,106460791,C,T,P270959_F,NUAK1,Missense_Mutation,NM_014840,exon7,c.G1775A,p.R592H,SNP,SNVindel,exonic,NUAK1,NA,nonsynonymous SNV,NUAK1:NM_014840:exon7:c.G1775A:p.R592H,T,D,D,T,N,T
chr12,106461681,106461681,G,T,P270959_F,NUAK1,Silent,NM_014840,exon7,c.C885A,p.A295A,SNP,SNVindel,exonic,NUAK1,NA,synonymous SNV,NUAK1:NM_014840:exon7:c.C885A:p.A295A,NA,NA,NA,NA,NA,NA
chr12,107395705,107395705,T,C,P270959_F,CRY1,Silent,NM_004075,exon4,c.A432G,p.G144G,SNP,SNVindel,exonic,CRY1,NA,synonymous SNV,CRY1:NM_004075:exon4:c.A432G:p.G144G,NA,NA,NA,NA,NA,NA
chr12,109210929,109210929,G,A,P270959_F,SSH1,Missense_Mutation,NM_001161331,exon4,c.C319T,p.R107C,SNP,SNVindel,exonic,SSH1,NA,nonsynonymous SNV,"SSH1:NM_001161331:exon4:c.C319T:p.R107C,SSH1:NM_001161330:exon5:c.C286T:p.R96C,SSH1:NM_018984:exon5:c.C286T:p.R96C",D,D,D,T,D,T
chr12,111078285,111078285,C,A,P270959_F,TCTN1,Missense_Mutation,NM_001082537,exon8,c.C941A,p.A314D,SNP,SNVindel,exonic,TCTN1,NA,nonsynonymous SNV,"TCTN1:NM_001082537:exon8:c.C941A:p.A314D,TCTN1:NM_001082538:exon8:c.C941A:p.A314D,TCTN1:NM_001173975:exon8:c.C773A:p.A258D,TCTN1:NM_001319680:exon8:c.C941A:p.A314D,TCTN1:NM_024549:exon8:c.C899A:p.A300D,TCTN1:NM_001173976:exon9:c.C761A:p.A254D,TCTN1:NM_001319681:exon9:c.C407A:p.A136D",T,N,N,D,N,T
chr12,111078867,111078867,C,T,P270959_F,TCTN1,Silent,NM_001082537,exon9,c.C1017T,p.V339V,SNP,SNVindel,exonic,TCTN1,NA,synonymous SNV,"TCTN1:NM_001082537:exon9:c.C1017T:p.V339V,TCTN1:NM_001082538:exon9:c.C1017T:p.V339V,TCTN1:NM_001173975:exon9:c.C849T:p.V283V,TCTN1:NM_001319680:exon9:c.C1017T:p.V339V,TCTN1:NM_024549:exon9:c.C975T:p.V325V,TCTN1:NM_001173976:exon10:c.C837T:p.V279V,TCTN1:NM_001319681:exon10:c.C483T:p.V161V",NA,NA,NA,NA,NA,NA
chr12,112148161,112148161,A,G,P270959_F,ACAD10,Missense_Mutation,NM_001136538,exon6,c.A775G,p.R259G,SNP,SNVindel,exonic,ACAD10,NA,nonsynonymous SNV,ACAD10:NM_001136538:exon6:c.A775G:p.R259G,D,.,N,T,N,T
chr12,113610189,113610189,G,A,P270959_F,DDX54,Silent,NM_001111322,exon11,c.C1248T,p.P416P,SNP,SNVindel,exonic,DDX54,NA,synonymous SNV,"DDX54:NM_001111322:exon11:c.C1248T:p.P416P,DDX54:NM_024072:exon11:c.C1248T:p.P416P",NA,NA,NA,NA,NA,NA
chr12,120750294,120750294,G,A,P270959_F,SIRT4,Missense_Mutation,NM_012240,exon3,c.G533A,p.R178Q,SNP,SNVindel,exonic,SIRT4,NA,nonsynonymous SNV,SIRT4:NM_012240:exon3:c.G533A:p.R178Q,D,D,D,T,D,T
chr12,122255426,122255426,C,T,P270959_F,SETD1B,Missense_Mutation,NM_001353345,exon8,c.C3128T,p.A1043V,SNP,SNVindel,exonic,SETD1B,NA,nonsynonymous SNV,SETD1B:NM_001353345:exon8:c.C3128T:p.A1043V,.,.,N,.,.,.
chr12,122284816,122284816,G,A,P270959_F,HPD,Silent,NM_002150,exon11,c.C783T,p.G261G,SNP,SNVindel,exonic,HPD,NA,synonymous SNV,"HPD:NM_002150:exon11:c.C783T:p.G261G,HPD:NM_001171993:exon13:c.C666T:p.G222G",NA,NA,NA,NA,NA,NA
chr12,122292610,122292610,G,A,P270959_F,HPD,Missense_Mutation,NM_002150,exon7,c.C413T,p.T138M,SNP,SNVindel,exonic,HPD,NA,nonsynonymous SNV,"HPD:NM_002150:exon7:c.C413T:p.T138M,HPD:NM_001171993:exon9:c.C296T:p.T99M",D,D,D,T,D,D
chr13,28901686,28901686,C,T,P270959_F,FLT1,Silent,NM_002019,exon20,c.G2709A,p.G903G,SNP,SNVindel,exonic,FLT1,NA,synonymous SNV,FLT1:NM_002019:exon20:c.G2709A:p.G903G,NA,NA,NA,NA,NA,NA
chr13,46717525,46717525,G,A,P270959_F,LCP1,Missense_Mutation,NM_002298,exon12,c.C1268T,p.A423V,SNP,SNVindel,exonic,LCP1,NA,nonsynonymous SNV,LCP1:NM_002298:exon12:c.C1268T:p.A423V,D,D,D,D,D,D
chr13,52991255,52991255,G,A,P270959_F,VPS36,Silent,NM_001282168,exon12,c.C900T,p.G300G,SNP,SNVindel,exonic,VPS36,NA,synonymous SNV,"VPS36:NM_001282168:exon12:c.C900T:p.G300G,VPS36:NM_001282169:exon12:c.C753T:p.G251G,VPS36:NM_016075:exon12:c.C927T:p.G309G",NA,NA,NA,NA,NA,NA
chr13,95735425,95735425,C,T,P270959_F,ABCC4,Silent,NM_001301829,exon20,c.G2514A,p.T838T,SNP,SNVindel,exonic,ABCC4,NA,synonymous SNV,"ABCC4:NM_001301829:exon20:c.G2514A:p.T838T,ABCC4:NM_005845:exon21:c.G2655A:p.T885T",NA,NA,NA,NA,NA,NA
chr13,99540738,99540738,G,A,P270959_F,DOCK9,Missense_Mutation,NM_001130049,exon17,c.C1856T,p.T619M,SNP,SNVindel,exonic,DOCK9,NA,nonsynonymous SNV,"DOCK9:NM_001130049:exon17:c.C1856T:p.T619M,DOCK9:NM_001130050:exon17:c.C1853T:p.T618M,DOCK9:NM_001366677:exon17:c.C1889T:p.T630M,DOCK9:NM_001366679:exon17:c.C1853T:p.T618M,DOCK9:NM_001366680:exon17:c.C1853T:p.T618M,DOCK9:NM_001366681:exon17:c.C1853T:p.T618M,DOCK9:NM_001366682:exon17:c.C1853T:p.T618M,DOCK9:NM_001366683:exon17:c.C1853T:p.T618M,DOCK9:NM_001366684:exon17:c.C1853T:p.T618M",D,N,D,T,D,T
chr13,101742277,101742277,C,T,P270959_F,NALCN,Missense_Mutation,NM_001350750,exon28,c.G3223A,p.A1075T,SNP,SNVindel,exonic,NALCN,NA,nonsynonymous SNV,"NALCN:NM_001350750:exon28:c.G3223A:p.A1075T,NALCN:NM_001350751:exon28:c.G3223A:p.A1075T,NALCN:NM_001350749:exon29:c.G3310A:p.A1104T,NALCN:NM_052867:exon29:c.G3310A:p.A1104T,NALCN:NM_001350748:exon30:c.G3397A:p.A1133T",D,D,D,D,D,D
chr13,111532339,111532339,A,G,P270959_F,ANKRD10,Missense_Mutation,NM_017664,exon6,c.T908C,p.L303S,SNP,SNVindel,exonic,ANKRD10,NA,nonsynonymous SNV,ANKRD10:NM_017664:exon6:c.T908C:p.L303S,T,N,D,T,N,T
chr13,114304805,114304805,G,A,P270959_F,ATP4B,Silent,NM_000705,exon6,c.C630T,p.L210L,SNP,SNVindel,exonic,ATP4B,NA,synonymous SNV,ATP4B:NM_000705:exon6:c.C630T:p.L210L,NA,NA,NA,NA,NA,NA
chr14,21541280,21541280,C,T,P270959_F,ARHGEF40,Missense_Mutation,NM_018071,exon2,c.C80T,p.T27I,SNP,SNVindel,exonic,ARHGEF40,NA,nonsynonymous SNV,ARHGEF40:NM_018071:exon2:c.C80T:p.T27I,T,N,D,T,N,T
chr14,21544563,21544563,G,A,P270959_F,ARHGEF40,Missense_Mutation,NM_018071,exon6,c.G1784A,p.R595H,SNP,SNVindel,exonic,ARHGEF40,NA,nonsynonymous SNV,ARHGEF40:NM_018071:exon6:c.G1784A:p.R595H,D,D,D,T,D,T
chr14,21825473,21825473,A,G,P270959_F,SUPT16H,Missense_Mutation,NM_007192,exon22,c.T2543C,p.V848A,SNP,SNVindel,exonic,SUPT16H,NA,nonsynonymous SNV,SUPT16H:NM_007192:exon22:c.T2543C:p.V848A,D,D,D,.,D,D
chr14,23282151,23282151,C,T,P270959_F,SLC7A7,Missense_Mutation,NM_001126105,exon3,c.G457A,p.A153T,SNP,SNVindel,exonic,SLC7A7,NA,nonsynonymous SNV,"SLC7A7:NM_001126105:exon3:c.G457A:p.A153T,SLC7A7:NM_001126106:exon3:c.G457A:p.A153T",T,N,D,D,N,T
chr14,23415800,23415800,G,A,P270959_F,HAUS4,Silent,NM_001166270,exon9,c.C891T,p.T297T,SNP,SNVindel,exonic,HAUS4,NA,synonymous SNV,"HAUS4:NM_001166270:exon9:c.C891T:p.T297T,HAUS4:NM_001166269:exon10:c.C1026T:p.T342T,HAUS4:NM_017815:exon10:c.C1026T:p.T342T",NA,NA,NA,NA,NA,NA
chr14,51089941,51089941,A,G,P270959_F,ATL1,Missense_Mutation,NM_015915,exon11,c.A1094G,p.D365G,SNP,SNVindel,exonic,ATL1,NA,nonsynonymous SNV,"ATL1:NM_015915:exon11:c.A1094G:p.D365G,ATL1:NM_181598:exon11:c.A1094G:p.D365G,ATL1:NM_001127713:exon12:c.A1094G:p.D365G",D,D,D,T,D,T
chr14,51375611,51375611,T,C,P270959_F,PYGL,Missense_Mutation,NM_001163940,exon17,c.A2138G,p.D713G,SNP,SNVindel,exonic,PYGL,NA,nonsynonymous SNV,"PYGL:NM_001163940:exon17:c.A2138G:p.D713G,PYGL:NM_002863:exon18:c.A2240G:p.D747G",T,N,D,D,N,T
chr14,64682064,64682064,C,T,P270959_F,SYNE2,Missense_Mutation,NM_182913,exon2,c.C296T,p.A99V,SNP,SNVindel,exonic,SYNE2,NA,nonsynonymous SNV,"SYNE2:NM_182913:exon2:c.C296T:p.A99V,SYNE2:NM_182914:exon107:c.C19394T:p.A6465V",T,N,D,T,N,T
chr14,65008283,65008283,G,A,P270959_F,HSPA2,Missense_Mutation,NM_021979,exon1,c.G716A,p.R239H,SNP,SNVindel,exonic,HSPA2,NA,nonsynonymous SNV,HSPA2:NM_021979:exon1:c.G716A:p.R239H,D,U,D,T,D,T
chr14,65544747,65544747,C,T,P270959_F,MAX,Missense_Mutation,NM_145112,exon3,c.G152A,p.R51Q,SNP,SNVindel,exonic,MAX,NA,nonsynonymous SNV,"MAX:NM_145112:exon3:c.G152A:p.R51Q,MAX:NM_002382:exon4:c.G179A:p.R60Q,MAX:NM_145113:exon4:c.G179A:p.R60Q",D,D,D,D,D,D
chr14,69925187,69925187,C,T,P270959_F,SLC39A9,Silent,NM_001252148,exon6,c.C732T,p.G244G,SNP,SNVindel,exonic,SLC39A9,NA,synonymous SNV,"SLC39A9:NM_001252148:exon6:c.C732T:p.G244G,SLC39A9:NM_001330185:exon6:c.C603T:p.G201G,SLC39A9:NM_001252151:exon7:c.C447T:p.G149G,SLC39A9:NM_018375:exon7:c.C801T:p.G267G,SLC39A9:NM_001252152:exon8:c.C447T:p.G149G",NA,NA,NA,NA,NA,NA
chr14,70478229,70478229,C,T,P270959_F,SMOC1,Silent,NM_001034852,exon9,c.C885T,p.D295D,SNP,SNVindel,exonic,SMOC1,NA,synonymous SNV,"SMOC1:NM_001034852:exon9:c.C885T:p.D295D,SMOC1:NM_022137:exon9:c.C885T:p.D295D",NA,NA,NA,NA,NA,NA
chr14,72196948,72196948,G,A,P270959_F,SIPA1L1,Silent,NM_001284246,exon17,c.G4791A,p.T1597T,SNP,SNVindel,exonic,SIPA1L1,NA,synonymous SNV,"SIPA1L1:NM_001284246:exon17:c.G4791A:p.T1597T,SIPA1L1:NM_001284247:exon20:c.G4854A:p.T1618T,SIPA1L1:NM_001354287:exon20:c.G4791A:p.T1597T,SIPA1L1:NM_001354288:exon20:c.G4791A:p.T1597T,SIPA1L1:NM_001354289:exon20:c.G3309A:p.T1103T,SIPA1L1:NM_001354285:exon21:c.G4854A:p.T1618T,SIPA1L1:NM_001354286:exon21:c.G4791A:p.T1597T,SIPA1L1:NM_001284245:exon22:c.G4791A:p.T1597T,SIPA1L1:NM_015556:exon23:c.G4854A:p.T1618T",NA,NA,NA,NA,NA,NA
chr14,73739210,73739210,C,T,P270959_F,PAPLN,Silent,NM_001365906,exon26,c.C3675T,p.T1225T,SNP,SNVindel,exonic,PAPLN,NA,synonymous SNV,"PAPLN:NM_001365906:exon26:c.C3675T:p.T1225T,PAPLN:NM_001365907:exon26:c.C3627T:p.T1209T,PAPLN:NM_173462:exon26:c.C3594T:p.T1198T",NA,NA,NA,NA,NA,NA
chr14,88967211,88967211,C,T,P270959_F,PTPN21,Missense_Mutation,NM_007039,exon8,c.G680A,p.S227N,SNP,SNVindel,exonic,PTPN21,NA,nonsynonymous SNV,PTPN21:NM_007039:exon8:c.G680A:p.S227N,T,D,D,D,N,T
chr14,91700974,91700974,C,T,P270959_F,GPR68,Missense_Mutation,NM_001177676,exon2,c.G421A,p.V141I,SNP,SNVindel,exonic,GPR68,NA,nonsynonymous SNV,"GPR68:NM_001177676:exon2:c.G421A:p.V141I,GPR68:NM_003485:exon2:c.G421A:p.V141I,GPR68:NM_001348437:exon3:c.G421A:p.V141I",T,N,N,T,N,T
chr14,101348667,101348667,C,T,P270959_F,RTL1,Missense_Mutation,NM_001134888,exon1,c.G2459A,p.R820H,SNP,SNVindel,exonic,RTL1,NA,nonsynonymous SNV,RTL1:NM_001134888:exon1:c.G2459A:p.R820H,D,N,N,T,D,T
chr14,104642971,104642971,A,C,P270959_F,KIF26A,Missense_Mutation,NM_015656,exon12,c.A3846C,p.R1282S,SNP,SNVindel,exonic,KIF26A,NA,nonsynonymous SNV,KIF26A:NM_015656:exon12:c.A3846C:p.R1282S,D,.,D,D,D,D
chr14,105177971,105177971,G,A,P270959_F,INF2,Silent,NM_001031714,exon16,c.G2424A,p.A808A,SNP,SNVindel,exonic,INF2,NA,synonymous SNV,"INF2:NM_001031714:exon16:c.G2424A:p.A808A,INF2:NM_022489:exon16:c.G2424A:p.A808A",NA,NA,NA,NA,NA,NA
chr14,105936475,105936475,C,T,P270959_F,MTA1,Missense_Mutation,NM_004689,exon21,c.C2071T,p.R691C,SNP,SNVindel,exonic,MTA1,NA,nonsynonymous SNV,MTA1:NM_004689:exon21:c.C2071T:p.R691C,D,N,D,T,N,T
chr15,23890346,23890346,C,T,P270959_F,MAGEL2,Silent,NM_019066,exon1,c.G2544A,p.S848S,SNP,SNVindel,exonic,MAGEL2,NA,synonymous SNV,MAGEL2:NM_019066:exon1:c.G2544A:p.S848S,NA,NA,NA,NA,NA,NA
chr15,27128557,27128557,G,A,P270959_F,GABRA5,Missense_Mutation,NM_000810,exon6,c.G350A,p.R117H,SNP,SNVindel,exonic,GABRA5,NA,nonsynonymous SNV,"GABRA5:NM_000810:exon6:c.G350A:p.R117H,GABRA5:NM_001165037:exon6:c.G350A:p.R117H",D,D,D,T,N,T
chr15,28273126,28273126,G,A,P270959_F,OCA2,Nonsense_Mutation,NM_000275,exon4,c.C406T,p.R136X,SNP,SNVindel,exonic,OCA2,NA,stopgain,"OCA2:NM_000275:exon4:c.C406T:p.R136X,OCA2:NM_001300984:exon4:c.C406T:p.R136X",.,N,A,.,.,.
chr15,28483301,28483301,G,A,P270959_F,HERC2,Missense_Mutation,NM_004667,exon25,c.C3811T,p.R1271W,SNP,SNVindel,exonic,HERC2,NA,nonsynonymous SNV,HERC2:NM_004667:exon25:c.C3811T:p.R1271W,D,D,D,T,D,D
chr15,28506050,28506050,A,G,P270959_F,HERC2,Missense_Mutation,NM_004667,exon16,c.T2189C,p.V730A,SNP,SNVindel,exonic,HERC2,NA,nonsynonymous SNV,HERC2:NM_004667:exon16:c.T2189C:p.V730A,D,D,D,D,D,D
chr15,32935876,32935876,G,A,P270959_F,ARHGAP11A-SCG5,Missense_Mutation,NM_001144757,exon2,c.G83A,p.S28N,SNP,SNVindel,exonic,ARHGAP11A-SCG5;SCG5,NA,nonsynonymous SNV,"SCG5:NM_001144757:exon2:c.G83A:p.S28N,SCG5:NM_003020:exon2:c.G83A:p.S28N,ARHGAP11A-SCG5:NM_001368319:exon10:c.G1325A:p.S442N",T,N,D,.,N,T
chr15,40005772,40005772,C,T,P270959_F,FSIP1,Missense_Mutation,NM_001324338,exon10,c.G1061A,p.R354H,SNP,SNVindel,exonic,FSIP1,NA,nonsynonymous SNV,"FSIP1:NM_001324338:exon10:c.G1061A:p.R354H,FSIP1:NM_152597:exon10:c.G1061A:p.R354H",T,N,P,T,N,T
chr15,41276054,41276054,C,G,P270959_F,INO80,Silent,NM_017553,exon34,c.G4143C,p.L1381L,SNP,SNVindel,exonic,INO80,NA,synonymous SNV,INO80:NM_017553:exon34:c.G4143C:p.L1381L,NA,NA,NA,NA,NA,NA
chr15,42981734,42981734,C,T,P270959_F,STARD9,Missense_Mutation,NM_020759,exon23,c.C7958T,p.T2653M,SNP,SNVindel,exonic,STARD9,NA,nonsynonymous SNV,STARD9:NM_020759:exon23:c.C7958T:p.T2653M,T,N,N,T,N,T
chr15,43008924,43008924,G,A,P270959_F,STARD9,Missense_Mutation,NM_020759,exon27,c.G13334A,p.R4445Q,SNP,SNVindel,exonic,STARD9,NA,nonsynonymous SNV,STARD9:NM_020759:exon27:c.G13334A:p.R4445Q,T,.,N,T,N,T
chr15,43621779,43621779,G,A,P270959_F,LCMT2,Silent,NM_014793,exon1,c.C909T,p.C303C,SNP,SNVindel,exonic,LCMT2,NA,synonymous SNV,LCMT2:NM_014793:exon1:c.C909T:p.C303C,NA,NA,NA,NA,NA,NA
chr15,44961558,44961558,C,T,P270959_F,PATL2,Silent,NM_001330283,exon10,c.G417A,p.P139P,SNP,SNVindel,exonic,PATL2,NA,synonymous SNV,"PATL2:NM_001330283:exon10:c.G417A:p.P139P,PATL2:NM_001145112:exon11:c.G984A:p.P328P",NA,NA,NA,NA,NA,NA
chr15,49031107,49031107,G,A,P270959_F,CEP152,Missense_Mutation,NM_014985,exon26,c.C4304T,p.P1435L,SNP,SNVindel,exonic,CEP152,NA,nonsynonymous SNV,"CEP152:NM_014985:exon26:c.C4304T:p.P1435L,CEP152:NM_001194998:exon27:c.C4472T:p.P1491L",T,N,N,T,N,T
chr15,52245403,52245403,G,A,P270959_F,LEO1,Silent,NM_001286430,exon6,c.C1218T,p.G406G,SNP,SNVindel,exonic,LEO1,NA,synonymous SNV,"LEO1:NM_001286430:exon6:c.C1218T:p.G406G,LEO1:NM_001323903:exon8:c.C1398T:p.G466G,LEO1:NM_001323904:exon8:c.C1398T:p.G466G,LEO1:NM_138792:exon8:c.C1398T:p.G466G",NA,NA,NA,NA,NA,NA
chr15,57809145,57809145,C,T,P270959_F,CGNL1,Silent,NM_032866,exon9,c.C2571T,p.G857G,SNP,SNVindel,exonic,CGNL1,NA,synonymous SNV,"CGNL1:NM_032866:exon9:c.C2571T:p.G857G,CGNL1:NM_001252335:exon10:c.C2571T:p.G857G",NA,NA,NA,NA,NA,NA
chr15,64792055,64792055,C,T,P270959_F,ZNF609,Missense_Mutation,NM_015042,exon1,c.C437T,p.A146V,SNP,SNVindel,exonic,ZNF609,NA,nonsynonymous SNV,ZNF609:NM_015042:exon1:c.C437T:p.A146V,T,N,D,T,N,T
chr15,65490660,65490660,C,T,P270959_F,CILP,Missense_Mutation,NM_003613,exon9,c.G1964A,p.R655Q,SNP,SNVindel,exonic,CILP,NA,nonsynonymous SNV,CILP:NM_003613:exon9:c.G1964A:p.R655Q,T,N,D,T,D,T
chr15,65622154,65622154,G,A,P270959_F,IGDCC3,Missense_Mutation,NM_004884,exon12,c.C1907T,p.T636M,SNP,SNVindel,exonic,IGDCC3,NA,nonsynonymous SNV,IGDCC3:NM_004884:exon12:c.C1907T:p.T636M,D,N,N,T,N,T
chr15,73562533,73562533,G,A,P270959_F,NEO1,Missense_Mutation,NM_001172623,exon17,c.G2677A,p.V893I,SNP,SNVindel,exonic,NEO1,NA,nonsynonymous SNV,"NEO1:NM_001172623:exon17:c.G2677A:p.V893I,NEO1:NM_001172624:exon17:c.G2677A:p.V893I,NEO1:NM_002499:exon17:c.G2677A:p.V893I",T,N,D,T,N,T
chr15,74425198,74425198,G,A,P270959_F,ISLR2,Missense_Mutation,NM_020851,exon3,c.G103A,p.A35T,SNP,SNVindel,exonic,ISLR2,NA,nonsynonymous SNV,"ISLR2:NM_020851:exon3:c.G103A:p.A35T,ISLR2:NM_001130136:exon4:c.G103A:p.A35T,ISLR2:NM_001130137:exon4:c.G103A:p.A35T,ISLR2:NM_001130138:exon4:c.G103A:p.A35T",T,D,D,T,N,T
chr15,75188569,75188569,C,T,P270959_F,MPI,Silent,NM_001289156,exon5,c.C597T,p.I199I,SNP,SNVindel,exonic,MPI,NA,synonymous SNV,"MPI:NM_001289156:exon5:c.C597T:p.I199I,MPI:NM_001289157:exon5:c.C564T:p.I188I,MPI:NM_001289155:exon6:c.C747T:p.I249I,MPI:NM_001330372:exon6:c.C687T:p.I229I,MPI:NM_002435:exon6:c.C747T:p.I249I",NA,NA,NA,NA,NA,NA
chr15,78909415,78909415,G,A,P270959_F,CHRNA3,Missense_Mutation,NM_000743,exon4,c.C328T,p.R110C,SNP,SNVindel,exonic,CHRNA3,NA,nonsynonymous SNV,"CHRNA3:NM_000743:exon4:c.C328T:p.R110C,CHRNA3:NM_001166694:exon4:c.C328T:p.R110C",D,D,D,T,D,D
chr15,79291123,79291123,G,A,P270959_F,RASGRF1,Missense_Mutation,NM_153815,exon5,c.C487T,p.R163C,SNP,SNVindel,exonic,RASGRF1,NA,nonsynonymous SNV,"RASGRF1:NM_153815:exon5:c.C487T:p.R163C,RASGRF1:NM_001145648:exon18:c.C2791T:p.R931C,RASGRF1:NM_002891:exon19:c.C2839T:p.R947C",D,D,D,T,D,T
chr15,80872806,80872806,G,A,P270959_F,ARNT2,Silent,NM_014862,exon16,c.G1668A,p.T556T,SNP,SNVindel,exonic,ARNT2,NA,synonymous SNV,ARNT2:NM_014862:exon16:c.G1668A:p.T556T,NA,NA,NA,NA,NA,NA
chr15,81295075,81295075,C,T,P270959_F,TLNRD1,Nonsense_Mutation,NM_022566,exon1,c.C463T,p.R155X,SNP,SNVindel,exonic,TLNRD1,NA,stopgain,TLNRD1:NM_022566:exon1:c.C463T:p.R155X,.,D,D,.,.,.
chr15,81636343,81636343,G,A,P270959_F,TMC3,Missense_Mutation,NM_001080532,exon14,c.C1562T,p.A521V,SNP,SNVindel,exonic,TMC3,NA,nonsynonymous SNV,TMC3:NM_001080532:exon14:c.C1562T:p.A521V,T,D,D,T,N,T
chr15,83350313,83350313,C,T,P270959_F,AP3B2,Missense_Mutation,NM_001278511,exon4,c.G284A,p.R95H,SNP,SNVindel,exonic,AP3B2,NA,nonsynonymous SNV,"AP3B2:NM_001278511:exon4:c.G284A:p.R95H,AP3B2:NM_001278512:exon5:c.G380A:p.R127H,AP3B2:NM_004644:exon5:c.G380A:p.R127H",D,D,D,T,D,T
chr15,89074317,89074317,C,T,P270959_F,DET1,Missense_Mutation,NM_001144074,exon2,c.G620A,p.R207H,SNP,SNVindel,exonic,DET1,NA,nonsynonymous SNV,"DET1:NM_001144074:exon2:c.G620A:p.R207H,DET1:NM_001321596:exon3:c.G620A:p.R207H,DET1:NM_017996:exon3:c.G653A:p.R218H,DET1:NM_001321594:exon4:c.G518A:p.R173H",D,D,D,.,D,T
chr15,90195907,90195907,G,A,P270959_F,KIF7,Silent,NM_198525,exon2,c.C255T,p.G85G,SNP,SNVindel,exonic,KIF7,NA,synonymous SNV,KIF7:NM_198525:exon2:c.C255T:p.G85G,NA,NA,NA,NA,NA,NA
chr15,90631834,90631834,G,A,P270959_F,IDH2,Silent,NM_001290114,exon2,c.C129T,p.H43H,SNP,SNVindel,exonic,IDH2,NA,synonymous SNV,"IDH2:NM_001290114:exon2:c.C129T:p.H43H,IDH2:NM_001289910:exon4:c.C363T:p.H121H,IDH2:NM_002168:exon4:c.C519T:p.H173H",NA,NA,NA,NA,NA,NA
chr15,92706274,92706274,A,G,P270959_F,SLCO3A1,Missense_Mutation,NM_013272,exon10,c.A2042G,p.D681G,SNP,SNVindel,exonic,SLCO3A1,NA,nonsynonymous SNV,SLCO3A1:NM_013272:exon10:c.A2042G:p.D681G,T,N,D,T,N,T
chr15,99472873,99472873,G,A,P270959_F,IGF1R,Missense_Mutation,NM_000875,exon14,c.G2869A,p.V957I,SNP,SNVindel,exonic,IGF1R,NA,nonsynonymous SNV,"IGF1R:NM_000875:exon14:c.G2869A:p.V957I,IGF1R:NM_001291858:exon14:c.G2866A:p.V956I",T,N,D,T,N,T
chr15,100801811,100801811,G,A,P270959_F,ADAMTS17,Missense_Mutation,NM_139057,exon6,c.C904T,p.R302W,SNP,SNVindel,exonic,ADAMTS17,NA,nonsynonymous SNV,ADAMTS17:NM_139057:exon6:c.C904T:p.R302W,D,D,D,D,D,D
chr16,457489,457489,C,T,P270959_F,DECR2,Missense_Mutation,NM_020664,exon4,c.C266T,p.A89V,SNP,SNVindel,exonic,DECR2,NA,nonsynonymous SNV,DECR2:NM_020664:exon4:c.C266T:p.A89V,T,N,N,T,N,T
chr16,553023,553023,G,A,P270959_F,RAB11FIP3,Missense_Mutation,NM_001142272,exon5,c.G391A,p.A131T,SNP,SNVindel,exonic,RAB11FIP3,NA,nonsynonymous SNV,"RAB11FIP3:NM_001142272:exon5:c.G391A:p.A131T,RAB11FIP3:NM_014700:exon7:c.G1321A:p.A441T,RAB11FIP3:NM_001370401:exon8:c.G1456A:p.A486T",T,.,N,.,N,T
chr16,706871,706871,C,T,P270959_F,WDR90,Missense_Mutation,NM_145294,exon19,c.C2342T,p.T781M,SNP,SNVindel,exonic,WDR90,NA,nonsynonymous SNV,WDR90:NM_145294:exon19:c.C2342T:p.T781M,D,U,N,T,N,T
chr16,733058,733058,C,T,P270959_F,JMJD8,Silent,NM_001323920,exon7,c.G519A,p.T173T,SNP,SNVindel,exonic,JMJD8,NA,synonymous SNV,"JMJD8:NM_001323920:exon7:c.G519A:p.T173T,JMJD8:NM_001323922:exon7:c.G519A:p.T173T,JMJD8:NM_001005920:exon8:c.G609A:p.T203T,JMJD8:NM_001323918:exon8:c.G609A:p.T203T",NA,NA,NA,NA,NA,NA
chr16,745508,745508,C,A,P270959_F,FBXL16,Missense_Mutation,NM_153350,exon3,c.G1049T,p.S350I,SNP,SNVindel,exonic,FBXL16,NA,nonsynonymous SNV,FBXL16:NM_153350:exon3:c.G1049T:p.S350I,T,D,D,T,N,T
chr16,2226129,2226129,C,T,P270959_F,TRAF7,Missense_Mutation,NM_032271,exon19,c.C1826T,p.S609L,SNP,SNVindel,exonic,TRAF7,NA,nonsynonymous SNV,TRAF7:NM_032271:exon19:c.C1826T:p.S609L,T,D,D,T,N,T
chr16,2334964,2334964,C,T,P270959_F,ABCA3,Silent,NM_001089,exon24,c.G3519A,p.T1173T,SNP,SNVindel,exonic,ABCA3,NA,synonymous SNV,ABCA3:NM_001089:exon24:c.G3519A:p.T1173T,NA,NA,NA,NA,NA,NA
chr16,2816762,2816762,G,A,P270959_F,SRRM2,Missense_Mutation,NM_016333,exon11,c.G6233A,p.R2078H,SNP,SNVindel,exonic,SRRM2,NA,nonsynonymous SNV,SRRM2:NM_016333:exon11:c.G6233A:p.R2078H,.,D,D,T,N,T
chr16,3170105,3170105,G,A,P270959_F,ZNF205,Missense_Mutation,NM_001042428,exon7,c.G1444A,p.G482S,SNP,SNVindel,exonic,ZNF205,NA,nonsynonymous SNV,"ZNF205:NM_001042428:exon7:c.G1444A:p.G482S,ZNF205:NM_001278158:exon7:c.G1444A:p.G482S,ZNF205:NM_003456:exon7:c.G1444A:p.G482S",D,D,D,T,D,T
chr16,4016811,4016811,G,A,P270959_F,ADCY9,Silent,NM_001116,exon11,c.C3027T,p.H1009H,SNP,SNVindel,exonic,ADCY9,NA,synonymous SNV,ADCY9:NM_001116:exon11:c.C3027T:p.H1009H,NA,NA,NA,NA,NA,NA
chr16,4242840,4242840,G,A,P270959_F,SRL,Missense_Mutation,NM_001098814,exon6,c.C736T,p.R246C,SNP,SNVindel,exonic,SRL,NA,nonsynonymous SNV,"SRL:NM_001098814:exon6:c.C736T:p.R246C,SRL:NM_001323667:exon7:c.C610T:p.R204C,SRL:NM_001323668:exon7:c.C610T:p.R204C",D,U,D,D,D,D
chr16,4245694,4245694,C,T,P270959_F,SRL,Missense_Mutation,NM_001098814,exon5,c.G470A,p.R157H,SNP,SNVindel,exonic,SRL,NA,nonsynonymous SNV,"SRL:NM_001098814:exon5:c.G470A:p.R157H,SRL:NM_001323667:exon6:c.G344A:p.R115H,SRL:NM_001323668:exon6:c.G344A:p.R115H",T,U,D,D,N,D
chr16,4731563,4731563,G,A,P270959_F,MGRN1,Missense_Mutation,NM_001142289,exon12,c.G1078A,p.V360I,SNP,SNVindel,exonic,MGRN1,NA,nonsynonymous SNV,"MGRN1:NM_001142289:exon12:c.G1078A:p.V360I,MGRN1:NM_001142291:exon12:c.G1078A:p.V360I,MGRN1:NM_001142290:exon13:c.G1144A:p.V382I,MGRN1:NM_015246:exon13:c.G1144A:p.V382I",T,N,N,T,N,T
chr16,11856531,11856531,G,A,P270959_F,ZC3H7A,Missense_Mutation,NM_014153,exon17,c.C2075T,p.A692V,SNP,SNVindel,exonic,ZC3H7A,NA,nonsynonymous SNV,ZC3H7A:NM_014153:exon17:c.C2075T:p.A692V,T,N,N,T,N,T
chr16,15141313,15141313,G,A,P270959_F,NTAN1,Silent,NM_001270767,exon2,c.C30T,p.H10H,SNP,SNVindel,exonic,NTAN1,NA,synonymous SNV,"NTAN1:NM_001270767:exon2:c.C30T:p.H10H,NTAN1:NM_001270766:exon3:c.C30T:p.H10H,NTAN1:NM_173474:exon4:c.C345T:p.H115H",NA,NA,NA,NA,NA,NA
chr16,19451505,19451505,G,A,P270959_F,TMC5,Missense_Mutation,NM_001105248,exon3,c.G145A,p.G49S,SNP,SNVindel,exonic,TMC5,NA,nonsynonymous SNV,"TMC5:NM_001105248:exon3:c.G145A:p.G49S,TMC5:NM_001105249:exon3:c.G145A:p.G49S,TMC5:NM_001261841:exon3:c.G145A:p.G49S,TMC5:NM_001308161:exon3:c.G145A:p.G49S",T,N,N,T,N,T
chr16,19883671,19883671,G,A,P270959_F,GPRC5B,Missense_Mutation,NM_001304771,exon2,c.C890T,p.A297V,SNP,SNVindel,exonic,GPRC5B,NA,nonsynonymous SNV,"GPRC5B:NM_001304771:exon2:c.C890T:p.A297V,GPRC5B:NM_016235:exon2:c.C497T:p.A166V",D,D,D,D,D,T
chr16,21212704,21212704,G,A,P270959_F,ZP2,Silent,NM_001290104,exon15,c.C1653T,p.N551N,SNP,SNVindel,exonic,ZP2,NA,synonymous SNV,"ZP2:NM_001290104:exon15:c.C1653T:p.N551N,ZP2:NM_003460:exon15:c.C1680T:p.N560N",NA,NA,NA,NA,NA,NA
chr16,22144356,22144356,G,A,P270959_F,VWA3A,Missense_Mutation,NM_173615,exon20,c.G2008A,p.A670T,SNP,SNVindel,exonic,VWA3A,NA,nonsynonymous SNV,VWA3A:NM_173615:exon20:c.G2008A:p.A670T,T,N,N,T,N,T
chr16,27221794,27221794,C,T,P270959_F,KDM8,Missense_Mutation,NM_001145348,exon2,c.C464T,p.A155V,SNP,SNVindel,exonic,KDM8,NA,nonsynonymous SNV,"KDM8:NM_001145348:exon2:c.C464T:p.A155V,KDM8:NM_024773:exon2:c.C350T:p.A117V",T,N,D,T,N,T
chr16,30393499,30393499,C,T,P270959_F,SEPTIN1,Silent,NM_001365977,exon3,c.G111A,p.G37G,SNP,SNVindel,exonic,SEPTIN1,NA,synonymous SNV,"SEPTIN1:NM_001365977:exon3:c.G111A:p.G37G,SEPTIN1:NM_052838:exon4:c.G111A:p.G37G",NA,NA,NA,NA,NA,NA
chr16,30616202,30616202,G,A,P270959_F,ZNF689,Missense_Mutation,NM_138447,exon3,c.C886T,p.R296C,SNP,SNVindel,exonic,ZNF689,NA,nonsynonymous SNV,ZNF689:NM_138447:exon3:c.C886T:p.R296C,D,D,D,T,D,T
chr16,30779838,30779838,C,T,P270959_F,RNF40,Nonsense_Mutation,NM_001207034,exon11,c.C1666T,p.R556X,SNP,SNVindel,exonic,RNF40,NA,stopgain,"RNF40:NM_001207034:exon11:c.C1666T:p.R556X,RNF40:NM_001207033:exon13:c.C1966T:p.R656X,RNF40:NM_001286572:exon13:c.C1966T:p.R656X,RNF40:NM_014771:exon13:c.C1966T:p.R656X",.,N,A,.,.,.
chr16,31335782,31335782,G,A,P270959_F,ITGAM,Missense_Mutation,NM_000632,exon17,c.G2065A,p.A689T,SNP,SNVindel,exonic,ITGAM,NA,nonsynonymous SNV,"ITGAM:NM_000632:exon17:c.G2065A:p.A689T,ITGAM:NM_001145808:exon17:c.G2068A:p.A690T",D,.,N,T,D,T
chr16,31414917,31414917,G,A,P270959_F,ITGAD,Missense_Mutation,NM_001318185,exon7,c.G655A,p.V219I,SNP,SNVindel,exonic,ITGAD,NA,nonsynonymous SNV,"ITGAD:NM_001318185:exon7:c.G655A:p.V219I,ITGAD:NM_005353:exon7:c.G655A:p.V219I",T,.,N,T,N,T
chr16,48125076,48125076,C,T,P270959_F,ABCC12,Silent,NM_033226,exon23,c.G3240A,p.T1080T,SNP,SNVindel,exonic,ABCC12,NA,synonymous SNV,ABCC12:NM_033226:exon23:c.G3240A:p.T1080T,NA,NA,NA,NA,NA,NA
chr16,57284324,57284324,C,T,P270959_F,ARL2BP,Missense_Mutation,NM_012106,exon5,c.C295T,p.H99Y,SNP,SNVindel,exonic,ARL2BP,NA,nonsynonymous SNV,ARL2BP:NM_012106:exon5:c.C295T:p.H99Y,D,U,D,T,N,T
chr16,58438631,58438631,T,C,P270959_F,GINS3,Nonstop_Mutation,NM_001126130,exon2,c.T415C,p.X139R,SNP,SNVindel,exonic,GINS3,NA,stoploss,"GINS3:NM_001126130:exon2:c.T415C:p.X139R,GINS3:NM_022770:exon3:c.T649C:p.X217R,GINS3:NM_001126129:exon4:c.T766C:p.X256R",.,.,N,.,.,.
chr16,66434745,66434745,G,A,P270959_F,CDH5,Missense_Mutation,NM_001795,exon11,c.G1663A,p.V555M,SNP,SNVindel,exonic,CDH5,NA,nonsynonymous SNV,CDH5:NM_001795:exon11:c.G1663A:p.V555M,D,.,D,T,N,T
chr16,66919605,66919605,G,A,P270959_F,PDP2,Missense_Mutation,NM_001329929,exon2,c.G1418A,p.R473Q,SNP,SNVindel,exonic,PDP2,NA,nonsynonymous SNV,"PDP2:NM_001329929:exon2:c.G1418A:p.R473Q,PDP2:NM_001329930:exon2:c.G1418A:p.R473Q,PDP2:NM_001329931:exon2:c.G1418A:p.R473Q,PDP2:NM_001329934:exon2:c.G1418A:p.R473Q,PDP2:NM_020786:exon2:c.G1418A:p.R473Q,PDP2:NM_001329928:exon3:c.G1418A:p.R473Q,PDP2:NM_001329932:exon3:c.G1418A:p.R473Q,PDP2:NM_001329933:exon3:c.G1418A:p.R473Q",D,D,N,T,N,T
chr16,67270476,67270476,C,T,P270959_F,FHOD1,Missense_Mutation,NM_001318202,exon11,c.G1303A,p.E435K,SNP,SNVindel,exonic,FHOD1,NA,nonsynonymous SNV,"FHOD1:NM_001318202:exon11:c.G1303A:p.E435K,FHOD1:NM_013241:exon11:c.G1303A:p.E435K",D,N,D,T,N,T
chr16,68024020,68024020,G,A,P270959_F,DPEP2,Silent,NM_001324159,exon6,c.C450T,p.G150G,SNP,SNVindel,exonic,DPEP2,NA,synonymous SNV,"DPEP2:NM_001324159:exon6:c.C450T:p.G150G,DPEP2:NM_001369657:exon7:c.C924T:p.G308G,DPEP2:NM_022355:exon8:c.C924T:p.G308G",NA,NA,NA,NA,NA,NA
chr16,68714935,68714935,C,T,P270959_F,CDH3,Missense_Mutation,NM_001317196,exon7,c.C767T,p.T256M,SNP,SNVindel,exonic,CDH3,NA,nonsynonymous SNV,"CDH3:NM_001317196:exon7:c.C767T:p.T256M,CDH3:NM_001317195:exon8:c.C932T:p.T311M,CDH3:NM_001793:exon8:c.C932T:p.T311M",D,D,D,T,D,T
chr16,68941442,68941442,C,T,P270959_F,TANGO6,Silent,NM_024562,exon10,c.C1764T,p.C588C,SNP,SNVindel,exonic,TANGO6,NA,synonymous SNV,TANGO6:NM_024562:exon10:c.C1764T:p.C588C,NA,NA,NA,NA,NA,NA
chr16,70390147,70390147,G,A,P270959_F,DDX19A,Missense_Mutation,NM_001320522,exon4,c.G290A,p.R97Q,SNP,SNVindel,exonic,DDX19A,NA,nonsynonymous SNV,"DDX19A:NM_001320522:exon4:c.G290A:p.R97Q,DDX19A:NM_018332:exon4:c.G290A:p.R97Q",T,D,D,T,N,T
chr16,77770606,77770606,T,G,P270959_F,NUDT7,Silent,NM_001243657,exon4,c.T408G,p.P136P,SNP,SNVindel,exonic,NUDT7,NA,synonymous SNV,NUDT7:NM_001243657:exon4:c.T408G:p.P136P,NA,NA,NA,NA,NA,NA
chr16,84050213,84050213,G,A,P270959_F,SLC38A8,Missense_Mutation,NM_001080442,exon8,c.C1073T,p.T358M,SNP,SNVindel,exonic,SLC38A8,NA,nonsynonymous SNV,SLC38A8:NM_001080442:exon8:c.C1073T:p.T358M,D,D,D,T,D,T
chr16,84514226,84514226,G,A,P270959_F,MEAK7,Missense_Mutation,NM_020947,exon7,c.C1166T,p.T389M,SNP,SNVindel,exonic,MEAK7,NA,nonsynonymous SNV,MEAK7:NM_020947:exon7:c.C1166T:p.T389M,D,D,D,T,D,D
chr16,84695337,84695337,C,T,P270959_F,KLHL36,Silent,NM_001303451,exon4,c.C1260T,p.R420R,SNP,SNVindel,exonic,KLHL36,NA,synonymous SNV,"KLHL36:NM_001303451:exon4:c.C1260T:p.R420R,KLHL36:NM_024731:exon5:c.C1449T:p.R483R",NA,NA,NA,NA,NA,NA
chr16,88599343,88599343,G,T,P270959_F,ZFPM1,Missense_Mutation,NM_153813,exon9,c.G1189T,p.D397Y,SNP,SNVindel,exonic,ZFPM1,NA,nonsynonymous SNV,ZFPM1:NM_153813:exon9:c.G1189T:p.D397Y,D,U,D,T,D,T
chr16,89598338,89598338,C,T,P270959_F,SPG7,Silent,NM_001363850,exon8,c.C1014T,p.G338G,SNP,SNVindel,exonic,SPG7,NA,synonymous SNV,"SPG7:NM_001363850:exon8:c.C1014T:p.G338G,SPG7:NM_003119:exon8:c.C1014T:p.G338G,SPG7:NM_199367:exon8:c.C1014T:p.G338G",NA,NA,NA,NA,NA,NA
chr16,89962463,89962463,C,T,P270959_F,TCF25,Missense_Mutation,NM_014972,exon9,c.C994T,p.R332W,SNP,SNVindel,exonic,TCF25,NA,nonsynonymous SNV,TCF25:NM_014972:exon9:c.C994T:p.R332W,D,D,D,.,D,D
chr16,90102917,90102917,G,A,P270959_F,GAS8,Missense_Mutation,NM_001286208,exon5,c.G103A,p.E35K,SNP,SNVindel,exonic,GAS8,NA,nonsynonymous SNV,"GAS8:NM_001286208:exon5:c.G103A:p.E35K,GAS8:NM_001286205:exon6:c.G430A:p.E144K,GAS8:NM_001286209:exon6:c.G604A:p.E202K,GAS8:NM_001481:exon6:c.G679A:p.E227K",D,D,D,T,D,T
chr16,90109623,90109623,G,A,P270959_F,GAS8,Missense_Mutation,NM_001286208,exon10,c.G731A,p.R244H,SNP,SNVindel,exonic,GAS8,NA,nonsynonymous SNV,"GAS8:NM_001286208:exon10:c.G731A:p.R244H,GAS8:NM_001286205:exon11:c.G1058A:p.R353H,GAS8:NM_001286209:exon11:c.G1232A:p.R411H,GAS8:NM_001481:exon11:c.G1307A:p.R436H",D,N,D,T,D,T
chr17,1637421,1637421,G,A,P270959_F,WDR81,Missense_Mutation,NM_001163673,exon7,c.G1481A,p.R494H,SNP,SNVindel,exonic,WDR81,NA,nonsynonymous SNV,"WDR81:NM_001163673:exon7:c.G1481A:p.R494H,WDR81:NM_001163809:exon7:c.G5090A:p.R1697H,WDR81:NM_001163811:exon7:c.G1409A:p.R470H,WDR81:NM_152348:exon8:c.G1937A:p.R646H",D,N,D,D,D,D
chr17,1960135,1960135,G,A,P270959_F,HIC1,Missense_Mutation,NM_001098202,exon2,c.G208A,p.A70T,SNP,SNVindel,exonic,HIC1,NA,nonsynonymous SNV,"HIC1:NM_001098202:exon2:c.G208A:p.A70T,HIC1:NM_006497:exon2:c.G151A:p.A51T",T,.,N,T,N,T
chr17,3195374,3195374,G,A,P270959_F,OR3A1,Missense_Mutation,NM_002550,exon1,c.C503T,p.T168M,SNP,SNVindel,exonic,OR3A1,NA,nonsynonymous SNV,OR3A1:NM_002550:exon1:c.C503T:p.T168M,T,D,N,T,N,T
chr17,3920918,3920918,C,T,P270959_F,ZZEF1,Missense_Mutation,NM_015113,exon48,c.G7748A,p.R2583H,SNP,SNVindel,exonic,ZZEF1,NA,nonsynonymous SNV,ZZEF1:NM_015113:exon48:c.G7748A:p.R2583H,D,D,D,T,N,T
chr17,3955402,3955402,G,A,P270959_F,ZZEF1,Silent,NM_015113,exon35,c.C5463T,p.D1821D,SNP,SNVindel,exonic,ZZEF1,NA,synonymous SNV,ZZEF1:NM_015113:exon35:c.C5463T:p.D1821D,NA,NA,NA,NA,NA,NA
chr17,4578423,4578423,A,T,P270959_F,PELP1,Missense_Mutation,NM_014389,exon11,c.T1225A,p.W409R,SNP,SNVindel,exonic,PELP1,NA,nonsynonymous SNV,"PELP1:NM_014389:exon11:c.T1225A:p.W409R,PELP1:NM_001278241:exon12:c.T784A:p.W262R",D,D,D,T,D,T
chr17,4711403,4711403,A,G,P270959_F,PLD2,Silent,NM_001243108,exon3,c.A234G,p.G78G,SNP,SNVindel,exonic,PLD2,NA,synonymous SNV,"PLD2:NM_001243108:exon3:c.A234G:p.G78G,PLD2:NM_002663:exon3:c.A234G:p.G78G",NA,NA,NA,NA,NA,NA
chr17,7144749,7144749,C,T,P270959_F,GABARAP,Missense_Mutation,NM_007278,exon3,c.G200A,p.R67Q,SNP,SNVindel,exonic,GABARAP,NA,nonsynonymous SNV,GABARAP:NM_007278:exon3:c.G200A:p.R67Q,D,D,D,T,D,T
chr17,7404927,7404927,G,A,P270959_F,POLR2A,Missense_Mutation,NM_000937,exon14,c.G2228A,p.R743H,SNP,SNVindel,exonic,POLR2A,NA,nonsynonymous SNV,POLR2A:NM_000937:exon14:c.G2228A:p.R743H,.,D,D,.,.,T
chr17,7479998,7479998,C,T,P270959_F,EIF4A1,Missense_Mutation,NM_001204510,exon5,c.C502T,p.R168W,SNP,SNVindel,exonic,EIF4A1,NA,nonsynonymous SNV,"EIF4A1:NM_001204510:exon5:c.C502T:p.R168W,EIF4A1:NM_001416:exon5:c.C502T:p.R168W",D,D,D,T,D,T
chr17,7534615,7534615,G,A,P270959_F,SHBG,Missense_Mutation,NM_001040,exon4,c.G491A,p.R164H,SNP,SNVindel,exonic,SHBG,NA,nonsynonymous SNV,"SHBG:NM_001040:exon4:c.G491A:p.R164H,SHBG:NM_001146279:exon4:c.G491A:p.R164H,SHBG:NM_001146280:exon4:c.G491A:p.R164H,SHBG:NM_001146281:exon4:c.G491A:p.R164H,SHBG:NM_001289113:exon4:c.G317A:p.R106H,SHBG:NM_001289114:exon4:c.G317A:p.R106H,SHBG:NM_001289115:exon4:c.G317A:p.R106H,SHBG:NM_001289116:exon4:c.G143A:p.R48H",T,N,N,T,N,T
chr17,7577121,7577121,G,A,P270959_F,TP53,Missense_Mutation,NM_001126115,exon4,c.C421T,p.R141C,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon4:c.C421T:p.R141C,TP53:NM_001126116:exon4:c.C421T:p.R141C,TP53:NM_001126117:exon4:c.C421T:p.R141C,TP53:NM_001276697:exon4:c.C340T:p.R114C,TP53:NM_001276698:exon4:c.C340T:p.R114C,TP53:NM_001276699:exon4:c.C340T:p.R114C,TP53:NM_001126118:exon7:c.C700T:p.R234C,TP53:NM_000546:exon8:c.C817T:p.R273C,TP53:NM_001126112:exon8:c.C817T:p.R273C,TP53:NM_001126113:exon8:c.C817T:p.R273C,TP53:NM_001126114:exon8:c.C817T:p.R273C,TP53:NM_001276695:exon8:c.C700T:p.R234C,TP53:NM_001276696:exon8:c.C700T:p.R234C,TP53:NM_001276760:exon8:c.C700T:p.R234C,TP53:NM_001276761:exon8:c.C700T:p.R234C",D,D,D,D,D,D
chr17,7643207,7643207,G,A,P270959_F,DNAH2,Missense_Mutation,NM_020877,exon9,c.G1327A,p.G443R,SNP,SNVindel,exonic,DNAH2,NA,nonsynonymous SNV,"DNAH2:NM_020877:exon9:c.G1327A:p.G443R,DNAH2:NM_001303270:exon11:c.G1573A:p.G525R",T,N,N,T,N,T
chr17,7646587,7646587,G,A,P270959_F,DNAH2,Silent,NM_001303270,exon14,c.G2277A,p.S759S,SNP,SNVindel,exonic,DNAH2,NA,synonymous SNV,DNAH2:NM_001303270:exon14:c.G2277A:p.S759S,NA,NA,NA,NA,NA,NA
chr17,7794346,7794346,C,T,P270959_F,CHD3,Missense_Mutation,NM_001005271,exon4,c.C650T,p.T217M,SNP,SNVindel,exonic,CHD3,NA,nonsynonymous SNV,"CHD3:NM_001005271:exon4:c.C650T:p.T217M,CHD3:NM_001005273:exon4:c.C473T:p.T158M,CHD3:NM_005852:exon4:c.C473T:p.T158M",D,D,D,D,D,D
chr17,10427806,10427806,G,A,P270959_F,MYH2,Missense_Mutation,NM_001100112,exon35,c.C5152T,p.R1718C,SNP,SNVindel,exonic,MYH2,NA,nonsynonymous SNV,"MYH2:NM_001100112:exon35:c.C5152T:p.R1718C,MYH2:NM_017534:exon35:c.C5152T:p.R1718C",D,U,D,T,D,D
chr17,10728759,10728759,G,A,P270959_F,PIRT,Silent,NM_001101387,exon2,c.C204T,p.F68F,SNP,SNVindel,exonic,PIRT,NA,synonymous SNV,PIRT:NM_001101387:exon2:c.C204T:p.F68F,NA,NA,NA,NA,NA,NA
chr17,12916587,12916587,G,A,P270959_F,ELAC2,Missense_Mutation,NM_001165962,exon6,c.C496T,p.R166W,SNP,SNVindel,exonic,ELAC2,NA,nonsynonymous SNV,"ELAC2:NM_001165962:exon6:c.C496T:p.R166W,ELAC2:NM_018127:exon6:c.C496T:p.R166W,ELAC2:NM_173717:exon6:c.C496T:p.R166W",D,D,D,T,D,T
chr17,17719789,17719789,G,A,P270959_F,SREBF1,Missense_Mutation,NM_001321096,exon10,c.C1957T,p.H653Y,SNP,SNVindel,exonic,SREBF1,NA,nonsynonymous SNV,"SREBF1:NM_001321096:exon10:c.C1957T:p.H653Y,SREBF1:NM_004176:exon10:c.C2029T:p.H677Y,SREBF1:NM_001005291:exon11:c.C2119T:p.H707Y",D,D,D,T,D,T
chr17,17722689,17722689,G,A,P270959_F,SREBF1,Missense_Mutation,NM_001321096,exon4,c.C719T,p.A240V,SNP,SNVindel,exonic,SREBF1,NA,nonsynonymous SNV,"SREBF1:NM_001321096:exon4:c.C719T:p.A240V,SREBF1:NM_004176:exon4:c.C791T:p.A264V,SREBF1:NM_001005291:exon5:c.C881T:p.A294V",D,N,D,T,N,T
chr17,18042885,18042885,G,A,P270959_F,MYO15A,Missense_Mutation,NM_016239,exon18,c.G5171A,p.R1724H,SNP,SNVindel,exonic,MYO15A,NA,nonsynonymous SNV,MYO15A:NM_016239:exon18:c.G5171A:p.R1724H,T,.,D,D,D,D
chr17,18138848,18138848,C,T,P270959_F,LLGL1,Missense_Mutation,NM_004140,exon11,c.C1349T,p.T450M,SNP,SNVindel,exonic,LLGL1,NA,nonsynonymous SNV,LLGL1:NM_004140:exon11:c.C1349T:p.T450M,D,D,D,T,D,T
chr17,26089848,26089848,C,T,P270959_F,NOS2,Missense_Mutation,NM_000625,exon22,c.G2776A,p.A926T,SNP,SNVindel,exonic,NOS2,NA,nonsynonymous SNV,NOS2:NM_000625:exon22:c.G2776A:p.A926T,D,D,D,T,D,T
chr17,26101303,26101303,A,G,P270959_F,NOS2,Missense_Mutation,NM_000625,exon12,c.T1456C,p.S486P,SNP,SNVindel,exonic,NOS2,NA,nonsynonymous SNV,NOS2:NM_000625:exon12:c.T1456C:p.S486P,D,N,D,T,D,T
chr17,28320268,28320268,C,T,P270959_F,EFCAB5,Missense_Mutation,NM_001145053,exon5,c.C685T,p.R229W,SNP,SNVindel,exonic,EFCAB5,NA,nonsynonymous SNV,"EFCAB5:NM_001145053:exon5:c.C685T:p.R229W,EFCAB5:NM_198529:exon5:c.C853T:p.R285W",D,D,N,T,D,T
chr17,28400169,28400169,A,T,P270959_F,EFCAB5,Silent,NM_001145053,exon14,c.A2481T,p.G827G,SNP,SNVindel,exonic,EFCAB5,NA,synonymous SNV,EFCAB5:NM_001145053:exon14:c.A2481T:p.G827G,NA,NA,NA,NA,NA,NA
chr17,36482957,36482957,C,T,P270959_F,GPR179,Silent,NM_001004334,exon11,c.G6495A,p.T2165T,SNP,SNVindel,exonic,GPR179,NA,synonymous SNV,GPR179:NM_001004334:exon11:c.G6495A:p.T2165T,NA,NA,NA,NA,NA,NA
chr17,37074920,37074920,C,T,P270959_F,LASP1,Silent,NM_001271608,exon6,c.C507T,p.D169D,SNP,SNVindel,exonic,LASP1,NA,synonymous SNV,"LASP1:NM_001271608:exon6:c.C507T:p.D169D,LASP1:NM_006148:exon7:c.C675T:p.D225D",NA,NA,NA,NA,NA,NA
chr17,38146392,38146392,C,T,P270959_F,PSMD3,Missense_Mutation,NM_002809,exon6,c.C923T,p.T308M,SNP,SNVindel,exonic,PSMD3,NA,nonsynonymous SNV,PSMD3:NM_002809:exon6:c.C923T:p.T308M,D,D,D,T,N,T
chr17,38323817,38323817,G,A,P270959_F,CASC3,Missense_Mutation,NM_007359,exon9,c.G1603A,p.A535T,SNP,SNVindel,exonic,CASC3,NA,nonsynonymous SNV,CASC3:NM_007359:exon9:c.G1603A:p.A535T,D,N,D,.,N,T
chr17,38793775,38793775,G,A,P270959_F,SMARCE1,Missense_Mutation,NM_003079,exon5,c.C206T,p.P69L,SNP,SNVindel,exonic,SMARCE1,NA,nonsynonymous SNV,SMARCE1:NM_003079:exon5:c.C206T:p.P69L,D,D,D,D,D,D
chr17,39521652,39521652,C,T,P270959_F,KRT33B,Missense_Mutation,NM_002279,exon4,c.G742A,p.A248T,SNP,SNVindel,exonic,KRT33B,NA,nonsynonymous SNV,KRT33B:NM_002279:exon4:c.G742A:p.A248T,T,N,N,D,N,T
chr17,40646370,40646370,C,T,P270959_F,ATP6V0A1,Missense_Mutation,NM_001130020,exon12,c.C1214T,p.T405M,SNP,SNVindel,exonic,ATP6V0A1,NA,nonsynonymous SNV,"ATP6V0A1:NM_001130020:exon12:c.C1214T:p.T405M,ATP6V0A1:NM_001130021:exon12:c.C1193T:p.T398M,ATP6V0A1:NM_005177:exon12:c.C1193T:p.T398M",D,D,D,D,D,D
chr17,41180656,41180656,G,A,P270959_F,RND2,Missense_Mutation,NM_005440,exon5,c.G643A,p.E215K,SNP,SNVindel,exonic,RND2,NA,nonsynonymous SNV,RND2:NM_005440:exon5:c.G643A:p.E215K,.,N,D,T,.,T
chr17,41891401,41891401,C,A,P270959_F,MPP3,Missense_Mutation,NM_001330233,exon16,c.G1308T,p.Q436H,SNP,SNVindel,exonic,MPP3,NA,nonsynonymous SNV,"MPP3:NM_001330233:exon16:c.G1308T:p.Q436H,MPP3:NM_001932:exon16:c.G1233T:p.Q411H,MPP3:NM_001353080:exon17:c.G1257T:p.Q419H",T,D,D,T,N,T
chr17,41959740,41959740,C,T,P270959_F,MPP2,Missense_Mutation,NM_001278371,exon5,c.G560A,p.R187H,SNP,SNVindel,exonic,MPP2,NA,nonsynonymous SNV,"MPP2:NM_001278371:exon5:c.G560A:p.R187H,MPP2:NM_001278373:exon5:c.G560A:p.R187H,MPP2:NM_001278374:exon5:c.G176A:p.R59H,MPP2:NM_001278375:exon5:c.G560A:p.R187H,MPP2:NM_001278376:exon5:c.G644A:p.R215H,MPP2:NM_001278370:exon6:c.G728A:p.R243H,MPP2:NM_005374:exon6:c.G593A:p.R198H,MPP2:NM_001278372:exon7:c.G665A:p.R222H,MPP2:NM_001278381:exon7:c.G593A:p.R198H",D,.,D,T,N,T
chr17,42268123,42268123,G,A,P270959_F,TMUB2,Nonsense_Mutation,NM_001353173,exon3,c.G797A,p.W266X,SNP,SNVindel,exonic,TMUB2,NA,stopgain,"TMUB2:NM_001353173:exon3:c.G797A:p.W266X,TMUB2:NM_001353175:exon3:c.G797A:p.W266X,TMUB2:NM_001353181:exon3:c.G857A:p.W286X,TMUB2:NM_001353182:exon3:c.G797A:p.W266X,TMUB2:NM_001353183:exon3:c.G797A:p.W266X,TMUB2:NM_001353184:exon3:c.G857A:p.W286X,TMUB2:NM_001353190:exon3:c.G797A:p.W266X,TMUB2:NM_024107:exon3:c.G797A:p.W266X,TMUB2:NM_177441:exon3:c.G797A:p.W266X,TMUB2:NM_001076674:exon4:c.G857A:p.W286X,TMUB2:NM_001353174:exon4:c.G686A:p.W229X,TMUB2:NM_001353177:exon4:c.G857A:p.W286X,TMUB2:NM_001353178:exon4:c.G797A:p.W266X,TMUB2:NM_001353180:exon4:c.G830A:p.W277X,TMUB2:NM_001353188:exon4:c.G797A:p.W266X,TMUB2:NM_001353189:exon4:c.G830A:p.W277X,TMUB2:NM_001353176:exon5:c.G797A:p.W266X,TMUB2:NM_001353187:exon5:c.G719A:p.W240X,TMUB2:NM_001353191:exon5:c.G797A:p.W266X,TMUB2:NM_001330235:exon6:c.G686A:p.W229X,TMUB2:NM_001353185:exon6:c.G719A:p.W240X",.,D,D,.,.,.
chr17,42328845,42328845,C,T,P270959_F,SLC4A1,Missense_Mutation,NM_000342,exon18,c.G2423A,p.R808H,SNP,SNVindel,exonic,SLC4A1,NA,nonsynonymous SNV,SLC4A1:NM_000342:exon18:c.G2423A:p.R808H,D,D,D,D,D,D
chr17,42390512,42390512,C,T,P270959_F,RUNDC3A,Silent,NM_001144825,exon3,c.C264T,p.D88D,SNP,SNVindel,exonic,RUNDC3A,NA,synonymous SNV,"RUNDC3A:NM_001144825:exon3:c.C264T:p.D88D,RUNDC3A:NM_001144826:exon3:c.C249T:p.D83D,RUNDC3A:NM_006695:exon3:c.C264T:p.D88D",NA,NA,NA,NA,NA,NA
chr17,43247077,43247077,C,T,P270959_F,HEXIM2,Silent,NM_001303436,exon3,c.C828T,p.A276A,SNP,SNVindel,exonic,HEXIM2,NA,synonymous SNV,"HEXIM2:NM_001303436:exon3:c.C828T:p.A276A,HEXIM2:NM_001303438:exon3:c.C762T:p.A254A,HEXIM2:NM_001303439:exon3:c.C762T:p.A254A,HEXIM2:NM_001303440:exon3:c.C762T:p.A254A,HEXIM2:NM_001303442:exon3:c.C762T:p.A254A,HEXIM2:NM_001303444:exon3:c.C762T:p.A254A,HEXIM2:NM_001303437:exon4:c.C762T:p.A254A,HEXIM2:NM_001303441:exon4:c.C762T:p.A254A,HEXIM2:NM_001303443:exon4:c.C762T:p.A254A,HEXIM2:NM_144608:exon4:c.C762T:p.A254A",NA,NA,NA,NA,NA,NA
chr17,48216821,48216821,G,A,P270959_F,PPP1R9B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PPP1R9B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,48252765,48252765,C,T,P270959_F,SGCA,Silent,NM_001135697,exon7,c.C759T,p.S253S,SNP,SNVindel,exonic,SGCA,NA,synonymous SNV,"SGCA:NM_001135697:exon7:c.C759T:p.S253S,SGCA:NM_000023:exon9:c.C1131T:p.S377S",NA,NA,NA,NA,NA,NA
chr17,56833491,56833491,T,C,P270959_F,PPM1E,Missense_Mutation,NM_014906,exon1,c.T133C,p.S45P,SNP,SNVindel,exonic,PPM1E,NA,nonsynonymous SNV,PPM1E:NM_014906:exon1:c.T133C:p.S45P,T,.,P,T,N,T
chr17,57288907,57288907,C,T,P270959_F,SMG8,Nonsense_Mutation,NM_018149,exon1,c.C1495T,p.R499X,SNP,SNVindel,exonic,SMG8,NA,stopgain,SMG8:NM_018149:exon1:c.C1495T:p.R499X,.,D,A,.,.,.
chr17,57743920,57743920,G,A,P270959_F,CLTC,Missense_Mutation,NM_001288653,exon12,c.G1874A,p.G625D,SNP,SNVindel,exonic,CLTC,NA,nonsynonymous SNV,"CLTC:NM_001288653:exon12:c.G1874A:p.G625D,CLTC:NM_004859:exon12:c.G1862A:p.G621D",D,D,D,T,D,T
chr17,59560616,59560616,C,T,P270959_F,TBX4,Silent,NM_018488,exon8,c.C1377T,p.S459S,SNP,SNVindel,exonic,TBX4,NA,synonymous SNV,"TBX4:NM_018488:exon8:c.C1377T:p.S459S,TBX4:NM_001321120:exon9:c.C1380T:p.S460S",NA,NA,NA,NA,NA,NA
chr17,61623128,61623128,T,C,P270959_F,KCNH6,Silent,NM_001278919,exon13,c.T2742C,p.H914H,SNP,SNVindel,exonic,KCNH6,NA,synonymous SNV,"KCNH6:NM_001278919:exon13:c.T2742C:p.H914H,KCNH6:NM_001278920:exon13:c.T2373C:p.H791H,KCNH6:NM_030779:exon14:c.T2850C:p.H950H,KCNH6:NM_173092:exon14:c.T2583C:p.H861H",NA,NA,NA,NA,NA,NA
chr17,61912089,61912089,G,A,P270959_F,SMARCD2,Silent,NM_001098426,exon6,c.C795T,p.Y265Y,SNP,SNVindel,exonic,SMARCD2,NA,synonymous SNV,"SMARCD2:NM_001098426:exon6:c.C795T:p.Y265Y,SMARCD2:NM_001330439:exon6:c.C570T:p.Y190Y,SMARCD2:NM_001330440:exon6:c.C651T:p.Y217Y",NA,NA,NA,NA,NA,NA
chr17,62018349,62018349,C,T,P270959_F,SCN4A,Missense_Mutation,NM_000334,exon24,c.G5293A,p.A1765T,SNP,SNVindel,exonic,SCN4A,NA,nonsynonymous SNV,SCN4A:NM_000334:exon24:c.G5293A:p.A1765T,T,N,D,D,N,D
chr17,71383975,71383975,C,A,P270959_F,SDK2,Missense_Mutation,NM_001144952,exon30,c.G4394T,p.R1465M,SNP,SNVindel,exonic,SDK2,NA,nonsynonymous SNV,SDK2:NM_001144952:exon30:c.G4394T:p.R1465M,D,D,D,T,D,T
chr17,71452145,71452145,C,T,P270959_F,SDK2,Missense_Mutation,NM_001144952,exon4,c.G379A,p.G127R,SNP,SNVindel,exonic,SDK2,NA,nonsynonymous SNV,SDK2:NM_001144952:exon4:c.G379A:p.G127R,D,U,D,T,D,D
chr17,73234461,73234461,G,A,P270959_F,GGA3,Missense_Mutation,NM_001291642,exon14,c.C1705T,p.R569W,SNP,SNVindel,exonic,GGA3,NA,nonsynonymous SNV,"GGA3:NM_001291642:exon14:c.C1705T:p.R569W,GGA3:NM_014001:exon16:c.C1972T:p.R658W,GGA3:NM_001172703:exon17:c.C1855T:p.R619W,GGA3:NM_138619:exon17:c.C2071T:p.R691W,GGA3:NM_001291641:exon18:c.C1855T:p.R619W",.,D,D,T,.,T
chr17,73237095,73237095,C,T,P270959_F,GGA3,Silent,NM_001291642,exon8,c.G624A,p.A208A,SNP,SNVindel,exonic,GGA3,NA,synonymous SNV,"GGA3:NM_001291642:exon8:c.G624A:p.A208A,GGA3:NM_001172704:exon10:c.G624A:p.A208A,GGA3:NM_014001:exon10:c.G891A:p.A297A,GGA3:NM_001172703:exon11:c.G774A:p.A258A,GGA3:NM_138619:exon11:c.G990A:p.A330A,GGA3:NM_001291641:exon12:c.G774A:p.A258A",NA,NA,NA,NA,NA,NA
chr17,73493220,73493220,G,A,P270959_F,TMEM94,Silent,NM_001321148,exon25,c.G3378A,p.P1126P,SNP,SNVindel,exonic,TMEM94,NA,synonymous SNV,"TMEM94:NM_001321148:exon25:c.G3378A:p.P1126P,TMEM94:NM_001351203:exon25:c.G3375A:p.P1125P,TMEM94:NM_001321149:exon26:c.G3360A:p.P1120P,TMEM94:NM_001351202:exon26:c.G3300A:p.P1100P,TMEM94:NM_014738:exon26:c.G3348A:p.P1116P",NA,NA,NA,NA,NA,NA
chr17,74004357,74004357,C,T,P270959_F,EVPL,Silent,NM_001320747,exon22,c.G4995A,p.A1665A,SNP,SNVindel,exonic,EVPL,NA,synonymous SNV,"EVPL:NM_001320747:exon22:c.G4995A:p.A1665A,EVPL:NM_001988:exon22:c.G4929A:p.A1643A",NA,NA,NA,NA,NA,NA
chr17,74274101,74274101,C,T,P270959_F,QRICH2,Missense_Mutation,NM_032134,exon15,c.G4588A,p.A1530T,SNP,SNVindel,exonic,QRICH2,NA,nonsynonymous SNV,QRICH2:NM_032134:exon15:c.G4588A:p.A1530T,T,.,N,T,N,T
chr17,74288232,74288232,C,T,P270959_F,QRICH2,Missense_Mutation,NM_032134,exon4,c.G2078A,p.R693H,SNP,SNVindel,exonic,QRICH2,NA,nonsynonymous SNV,QRICH2:NM_032134:exon4:c.G2078A:p.R693H,T,.,N,T,N,T
chr17,76446421,76446421,C,T,P270959_F,DNAH17,Missense_Mutation,NM_173628,exon68,c.G10955A,p.R3652H,SNP,SNVindel,exonic,DNAH17,NA,nonsynonymous SNV,DNAH17:NM_173628:exon68:c.G10955A:p.R3652H,.,D,D,T,.,D
chr17,76795758,76795758,C,T,P270959_F,USP36,Missense_Mutation,NM_001321291,exon18,c.G3115A,p.G1039R,SNP,SNVindel,exonic,USP36,NA,nonsynonymous SNV,USP36:NM_001321291:exon18:c.G3115A:p.G1039R,D,D,D,T,D,T
chr17,76989812,76989812,G,A,P270959_F,CANT1,Silent,NM_138793,exon4,c.C1026T,p.H342H,SNP,SNVindel,exonic,CANT1,NA,synonymous SNV,"CANT1:NM_138793:exon4:c.C1026T:p.H342H,CANT1:NM_001159773:exon5:c.C1026T:p.H342H,CANT1:NM_001159772:exon6:c.C1026T:p.H342H",NA,NA,NA,NA,NA,NA
chr17,79496140,79496140,C,T,P270959_F,FSCN2,Missense_Mutation,NM_001077182,exon1,c.C583T,p.R195C,SNP,SNVindel,exonic,FSCN2,NA,nonsynonymous SNV,"FSCN2:NM_001077182:exon1:c.C583T:p.R195C,FSCN2:NM_012418:exon1:c.C583T:p.R195C",D,N,D,T,D,T
chr17,79496291,79496291,G,A,P270959_F,FSCN2,Missense_Mutation,NM_001077182,exon1,c.G734A,p.R245Q,SNP,SNVindel,exonic,FSCN2,NA,nonsynonymous SNV,"FSCN2:NM_001077182:exon1:c.G734A:p.R245Q,FSCN2:NM_012418:exon1:c.G734A:p.R245Q",T,D,N,T,N,T
chr17,79954416,79954416,C,T,P270959_F,ASPSCR1,Silent,NM_001330528,exon6,c.C396T,p.R132R,SNP,SNVindel,exonic,ASPSCR1,NA,synonymous SNV,"ASPSCR1:NM_001330528:exon6:c.C396T:p.R132R,ASPSCR1:NM_001251888:exon7:c.C627T:p.R209R,ASPSCR1:NM_024083:exon7:c.C627T:p.R209R",NA,NA,NA,NA,NA,NA
chr18,48173,48173,G,A,P270959_F,TUBB8B,Silent,NM_001358689,exon4,c.C552T,p.N184N,SNP,SNVindel,exonic,TUBB8B,NA,synonymous SNV,TUBB8B:NM_001358689:exon4:c.C552T:p.N184N,NA,NA,NA,NA,NA,NA
chr18,6985318,6985318,A,G,P270959_F,LAMA1,Missense_Mutation,NM_005559,exon39,c.T5578C,p.S1860P,SNP,SNVindel,exonic,LAMA1,NA,nonsynonymous SNV,LAMA1:NM_005559:exon39:c.T5578C:p.S1860P,T,N,D,T,D,T
chr18,8718523,8718523,C,T,P270959_F,MTCL1,Silent,NM_015210,exon3,c.C75T,p.R25R,SNP,SNVindel,exonic,MTCL1,NA,synonymous SNV,MTCL1:NM_015210:exon3:c.C75T:p.R25R,NA,NA,NA,NA,NA,NA
chr18,13826089,13826089,G,A,P270959_F,MC5R,Missense_Mutation,NM_005913,exon2,c.G325A,p.A109T,SNP,SNVindel,exonic,MC5R,NA,nonsynonymous SNV,MC5R:NM_005913:exon2:c.G325A:p.A109T,T,N,N,T,N,T
chr18,19383967,19383967,G,A,P270959_F,MIB1,Missense_Mutation,NM_020774,exon10,c.G1471A,p.E491K,SNP,SNVindel,exonic,MIB1,NA,nonsynonymous SNV,MIB1:NM_020774:exon10:c.G1471A:p.E491K,D,D,D,T,D,T
chr18,33780014,33780014,G,A,P270959_F,MOCOS,Missense_Mutation,NM_017947,exon4,c.G668A,p.R223Q,SNP,SNVindel,exonic,MOCOS,NA,nonsynonymous SNV,MOCOS:NM_017947:exon4:c.G668A:p.R223Q,T,N,N,T,N,T
chr18,43224075,43224075,G,A,P270959_F,SLC14A2,Missense_Mutation,NM_007163,exon10,c.G1301A,p.R434H,SNP,SNVindel,exonic,SLC14A2,NA,nonsynonymous SNV,"SLC14A2:NM_007163:exon10:c.G1301A:p.R434H,SLC14A2:NM_001242692:exon11:c.G1301A:p.R434H,SLC14A2:NM_001371319:exon14:c.G1301A:p.R434H",D,D,D,T,N,T
chr18,43481010,43481010,C,T,P270959_F,EPG5,Missense_Mutation,NM_020964,exon26,c.G4597A,p.A1533T,SNP,SNVindel,exonic,EPG5,NA,nonsynonymous SNV,EPG5:NM_020964:exon26:c.G4597A:p.A1533T,T,.,N,T,N,T
chr18,45567056,45567056,G,A,P270959_F,ZBTB7C,Silent,NM_001039360,exon2,c.C423T,p.D141D,SNP,SNVindel,exonic,ZBTB7C,NA,synonymous SNV,"ZBTB7C:NM_001039360:exon2:c.C423T:p.D141D,ZBTB7C:NM_001318841:exon4:c.C423T:p.D141D,ZBTB7C:NM_001371286:exon4:c.C423T:p.D141D,ZBTB7C:NM_001371288:exon4:c.C423T:p.D141D,ZBTB7C:NM_001371285:exon5:c.C423T:p.D141D,ZBTB7C:NM_001371287:exon5:c.C423T:p.D141D,ZBTB7C:NM_001371284:exon6:c.C423T:p.D141D,ZBTB7C:NM_001371291:exon6:c.C423T:p.D141D,ZBTB7C:NM_001371290:exon9:c.C423T:p.D141D",NA,NA,NA,NA,NA,NA
chr18,46284568,46284568,A,G,P270959_F,CTIF,Missense_Mutation,NM_014772,exon8,c.A863G,p.D288G,SNP,SNVindel,exonic,CTIF,NA,nonsynonymous SNV,"CTIF:NM_014772:exon8:c.A863G:p.D288G,CTIF:NM_001142397:exon9:c.A863G:p.D288G",T,N,N,T,N,T
chr18,50683829,50683829,G,A,P270959_F,DCC,Silent,NM_005215,exon8,c.G1365A,p.A455A,SNP,SNVindel,exonic,DCC,NA,synonymous SNV,DCC:NM_005215:exon8:c.G1365A:p.A455A,NA,NA,NA,NA,NA,NA
chr18,57136796,57136796,C,T,P270959_F,CCBE1,Silent,NM_133459,exon4,c.G309A,p.T103T,SNP,SNVindel,exonic,CCBE1,NA,synonymous SNV,CCBE1:NM_133459:exon4:c.G309A:p.T103T,NA,NA,NA,NA,NA,NA
chr18,60646612,60646612,C,T,P270959_F,PHLPP1,Missense_Mutation,NM_194449,exon17,c.C5102T,p.P1701L,SNP,SNVindel,exonic,PHLPP1,NA,nonsynonymous SNV,PHLPP1:NM_194449:exon17:c.C5102T:p.P1701L,D,.,N,T,N,T
chr18,72343478,72343478,T,C,P270959_F,ZNF407,Missense_Mutation,NM_001146189,exon1,c.T503C,p.F168S,SNP,SNVindel,exonic,ZNF407,NA,nonsynonymous SNV,"ZNF407:NM_001146189:exon1:c.T503C:p.F168S,ZNF407:NM_001146190:exon1:c.T503C:p.F168S,ZNF407:NM_017757:exon1:c.T503C:p.F168S",T,U,N,T,N,T
chr18,73000151,73000151,C,T,P270959_F,TSHZ1,Missense_Mutation,NM_001308210,exon2,c.C2789T,p.S930L,SNP,SNVindel,exonic,TSHZ1,NA,nonsynonymous SNV,"TSHZ1:NM_001308210:exon2:c.C2789T:p.S930L,TSHZ1:NM_005786:exon2:c.C2654T:p.S885L",D,D,D,T,D,T
chr18,74627675,74627675,C,T,P270959_F,ZNF236,Missense_Mutation,NM_001306089,exon19,c.C3134T,p.A1045V,SNP,SNVindel,exonic,ZNF236,NA,nonsynonymous SNV,"ZNF236:NM_001306089:exon19:c.C3134T:p.A1045V,ZNF236:NM_007345:exon19:c.C3128T:p.A1043V",T,D,D,T,N,T
chr18,74980669,74980669,C,T,P270959_F,GALR1,Silent,NM_001480,exon3,c.C861T,p.T287T,SNP,SNVindel,exonic,GALR1,NA,synonymous SNV,GALR1:NM_001480:exon3:c.C861T:p.T287T,NA,NA,NA,NA,NA,NA
chr18,76754515,76754515,G,A,P270959_F,SALL3,Missense_Mutation,NM_171999,exon2,c.G2524A,p.A842T,SNP,SNVindel,exonic,SALL3,NA,nonsynonymous SNV,SALL3:NM_171999:exon2:c.G2524A:p.A842T,D,D,D,T,D,T
chr19,2877710,2877710,A,G,P270959_F,ZNF556,Missense_Mutation,NM_001300843,exon4,c.A751G,p.M251V,SNP,SNVindel,exonic,ZNF556,NA,nonsynonymous SNV,"ZNF556:NM_001300843:exon4:c.A751G:p.M251V,ZNF556:NM_024967:exon4:c.A754G:p.M252V",T,.,N,T,N,T
chr19,3784172,3784172,C,T,P270959_F,MATK,Silent,NM_139354,exon4,c.G189A,p.A63A,SNP,SNVindel,exonic,MATK,NA,synonymous SNV,"MATK:NM_139354:exon4:c.G189A:p.A63A,MATK:NM_002378:exon5:c.G315A:p.A105A,MATK:NM_139355:exon5:c.G312A:p.A104A",NA,NA,NA,NA,NA,NA
chr19,3784366,3784366,G,A,P270959_F,MATK,Silent,NM_139354,exon3,c.C93T,p.G31G,SNP,SNVindel,exonic,MATK,NA,synonymous SNV,"MATK:NM_139354:exon3:c.C93T:p.G31G,MATK:NM_002378:exon4:c.C219T:p.G73G,MATK:NM_139355:exon4:c.C216T:p.G72G",NA,NA,NA,NA,NA,NA
chr19,4682839,4682839,C,T,P270959_F,DPP9,Silent,NM_139159,exon20,c.G2343A,p.A781A,SNP,SNVindel,exonic,DPP9,NA,synonymous SNV,DPP9:NM_139159:exon20:c.G2343A:p.A781A,NA,NA,NA,NA,NA,NA
chr19,4944234,4944234,G,A,P270959_F,UHRF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,UHRF1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,5699087,5699087,G,A,P270959_F,LONP1,Missense_Mutation,NM_001276480,exon10,c.C1048T,p.R350C,SNP,SNVindel,exonic,LONP1,NA,nonsynonymous SNV,"LONP1:NM_001276480:exon10:c.C1048T:p.R350C,LONP1:NM_004793:exon10:c.C1636T:p.R546C,LONP1:NM_001276479:exon11:c.C1444T:p.R482C",D,D,D,D,D,D
chr19,6468079,6468079,C,A,P270959_F,DENND1C,Missense_Mutation,NM_001290331,exon21,c.G1710T,p.E570D,SNP,SNVindel,exonic,DENND1C,NA,nonsynonymous SNV,"DENND1C:NM_001290331:exon21:c.G1710T:p.E570D,DENND1C:NM_024898:exon23:c.G1842T:p.E614D",T,N,N,T,N,T
chr19,6534980,6534980,G,A,P270959_F,TNFSF9,Missense_Mutation,NM_003811,exon3,c.G668A,p.R223H,SNP,SNVindel,exonic,TNFSF9,NA,nonsynonymous SNV,TNFSF9:NM_003811:exon3:c.G668A:p.R223H,T,N,N,D,N,T
chr19,7443305,7443305,C,T,P270959_F,ARHGEF18,Silent,NM_001367823,exon6,c.C567T,p.C189C,SNP,SNVindel,exonic,ARHGEF18,NA,synonymous SNV,ARHGEF18:NM_001367823:exon6:c.C567T:p.C189C,NA,NA,NA,NA,NA,NA
chr19,7591451,7591451,C,T,P270959_F,MCOLN1,Missense_Mutation,NM_020533,exon3,c.C364T,p.R122W,SNP,SNVindel,exonic,MCOLN1,NA,nonsynonymous SNV,MCOLN1:NM_020533:exon3:c.C364T:p.R122W,D,N,D,T,D,T
chr19,7606468,7606468,C,T,P270959_F,PNPLA6,Missense_Mutation,NM_001166114,exon9,c.C1066T,p.R356W,SNP,SNVindel,exonic,PNPLA6,NA,nonsynonymous SNV,"PNPLA6:NM_001166114:exon9:c.C1066T:p.R356W,PNPLA6:NM_001166111:exon11:c.C1093T:p.R365W,PNPLA6:NM_001166112:exon12:c.C949T:p.R317W,PNPLA6:NM_001166113:exon12:c.C949T:p.R317W,PNPLA6:NM_006702:exon12:c.C949T:p.R317W",D,D,D,T,D,T
chr19,7965356,7965356,G,A,P270959_F,LRRC8E,Missense_Mutation,NM_001268285,exon2,c.G1562A,p.R521Q,SNP,SNVindel,exonic,LRRC8E,NA,nonsynonymous SNV,"LRRC8E:NM_001268285:exon2:c.G1562A:p.R521Q,LRRC8E:NM_025061:exon3:c.G1949A:p.R650Q,LRRC8E:NM_001268284:exon4:c.G1949A:p.R650Q",T,D,D,T,N,T
chr19,8467070,8467070,G,A,P270959_F,RAB11B,Missense_Mutation,NM_004218,exon3,c.G337A,p.A113T,SNP,SNVindel,exonic,RAB11B,NA,nonsynonymous SNV,RAB11B:NM_004218:exon3:c.G337A:p.A113T,T,D,D,T,D,T
chr19,8808484,8808484,G,A,P270959_F,ACTL9,Missense_Mutation,NM_178525,exon1,c.C568T,p.R190C,SNP,SNVindel,exonic,ACTL9,NA,nonsynonymous SNV,ACTL9:NM_178525:exon1:c.C568T:p.R190C,D,N,D,D,D,D
chr19,9271415,9271415,C,T,P270959_F,ZNF317,Missense_Mutation,NM_001190791,exon6,c.C998T,p.T333M,SNP,SNVindel,exonic,ZNF317,NA,nonsynonymous SNV,"ZNF317:NM_001190791:exon6:c.C998T:p.T333M,ZNF317:NM_020933:exon7:c.C1094T:p.T365M",D,N,N,T,N,T
chr19,9297084,9297084,T,C,P270959_F,OR7D2,Silent,NM_175883,exon1,c.T627C,p.F209F,SNP,SNVindel,exonic,OR7D2,NA,synonymous SNV,OR7D2:NM_175883:exon1:c.T627C:p.F209F,NA,NA,NA,NA,NA,NA
chr19,9525082,9525082,T,A,P270959_F,ZNF266,Silent,NM_001370390,exon8,c.A519T,p.G173G,SNP,SNVindel,exonic,ZNF266,NA,synonymous SNV,"ZNF266:NM_001370390:exon8:c.A519T:p.G173G,ZNF266:NM_001370379:exon9:c.A519T:p.G173G,ZNF266:NM_001370380:exon9:c.A519T:p.G173G,ZNF266:NM_001370385:exon9:c.A720T:p.G240G,ZNF266:NM_001370388:exon9:c.A519T:p.G173G,ZNF266:NM_001370396:exon9:c.A519T:p.G173G,ZNF266:NM_001370376:exon10:c.A519T:p.G173G,ZNF266:NM_001370381:exon10:c.A519T:p.G173G,ZNF266:NM_001370382:exon10:c.A519T:p.G173G,ZNF266:NM_001370384:exon10:c.A720T:p.G240G,ZNF266:NM_001370389:exon10:c.A519T:p.G173G,ZNF266:NM_001370391:exon10:c.A519T:p.G173G,ZNF266:NM_001370398:exon10:c.A519T:p.G173G,ZNF266:NM_001370399:exon10:c.A519T:p.G173G,ZNF266:NM_001271314:exon11:c.A519T:p.G173G,ZNF266:NM_001370374:exon11:c.A720T:p.G240G,ZNF266:NM_001370375:exon11:c.A720T:p.G240G,ZNF266:NM_001370383:exon11:c.A519T:p.G173G,ZNF266:NM_001370386:exon11:c.A519T:p.G173G,ZNF266:NM_001370387:exon11:c.A519T:p.G173G,ZNF266:NM_001370392:exon11:c.A519T:p.G173G,ZNF266:NM_001370393:exon11:c.A519T:p.G173G,ZNF266:NM_001370394:exon11:c.A519T:p.G173G,ZNF266:NM_001370395:exon11:c.A519T:p.G173G,ZNF266:NM_001370400:exon11:c.A519T:p.G173G,ZNF266:NM_006631:exon11:c.A519T:p.G173G,ZNF266:NM_001370377:exon12:c.A519T:p.G173G,ZNF266:NM_001370378:exon12:c.A519T:p.G173G,ZNF266:NM_001370397:exon12:c.A519T:p.G173G",NA,NA,NA,NA,NA,NA
chr19,10394918,10394918,G,A,P270959_F,ICAM1,Missense_Mutation,NM_000201,exon4,c.G847A,p.E283K,SNP,SNVindel,exonic,ICAM1,NA,nonsynonymous SNV,ICAM1:NM_000201:exon4:c.G847A:p.E283K,D,N,N,T,D,T
chr19,11096968,11096968,G,A,P270959_F,SMARCA4,Silent,NM_001128845,exon3,c.G459A,p.P153P,SNP,SNVindel,exonic,SMARCA4,NA,synonymous SNV,"SMARCA4:NM_001128845:exon3:c.G459A:p.P153P,SMARCA4:NM_001128846:exon3:c.G459A:p.P153P,SMARCA4:NM_001128848:exon3:c.G459A:p.P153P,SMARCA4:NM_001128847:exon4:c.G459A:p.P153P,SMARCA4:NM_001128849:exon4:c.G459A:p.P153P,SMARCA4:NM_003072:exon4:c.G459A:p.P153P,SMARCA4:NM_001128844:exon5:c.G459A:p.P153P",NA,NA,NA,NA,NA,NA
chr19,11338100,11338100,G,A,P270959_F,DOCK6,Silent,NM_020812,exon24,c.C2868T,p.R956R,SNP,SNVindel,exonic,DOCK6,NA,synonymous SNV,"DOCK6:NM_020812:exon24:c.C2868T:p.R956R,DOCK6:NM_001367830:exon25:c.C2973T:p.R991R",NA,NA,NA,NA,NA,NA
chr19,11537006,11537006,G,A,P270959_F,CCDC151,Silent,NM_001302454,exon5,c.C741T,p.R247R,SNP,SNVindel,exonic,CCDC151,NA,synonymous SNV,"CCDC151:NM_001302454:exon5:c.C741T:p.R247R,CCDC151:NM_001302453:exon7:c.C759T:p.R253R,CCDC151:NM_145045:exon7:c.C921T:p.R307R",NA,NA,NA,NA,NA,NA
chr19,12774251,12774251,C,T,P270959_F,MAN2B1,Silent,NM_000528,exon6,c.G789A,p.P263P,SNP,SNVindel,exonic,MAN2B1,NA,synonymous SNV,"MAN2B1:NM_000528:exon6:c.G789A:p.P263P,MAN2B1:NM_001173498:exon6:c.G789A:p.P263P",NA,NA,NA,NA,NA,NA
chr19,12788131,12788131,G,A,P270959_F,DHPS,Missense_Mutation,NM_001206974,exon6,c.C632T,p.P211L,SNP,SNVindel,exonic,DHPS,NA,nonsynonymous SNV,"DHPS:NM_001206974:exon6:c.C632T:p.P211L,DHPS:NM_001369691:exon6:c.C758T:p.P253L,DHPS:NM_001369692:exon6:c.C758T:p.P253L,DHPS:NM_001369693:exon6:c.C209T:p.P70L,DHPS:NM_001930:exon6:c.C758T:p.P253L,DHPS:NM_013406:exon6:c.C758T:p.P253L",D,N,D,T,D,T
chr19,12975736,12975736,G,A,P270959_F,MAST1,Missense_Mutation,NM_014975,exon13,c.G1480A,p.V494M,SNP,SNVindel,exonic,MAST1,NA,nonsynonymous SNV,MAST1:NM_014975:exon13:c.G1480A:p.V494M,D,D,D,T,D,T
chr19,13346463,13346463,G,A,P270959_F,CACNA1A,Missense_Mutation,NM_001127221,exon32,c.C5035T,p.R1679C,SNP,SNVindel,exonic,CACNA1A,NA,nonsynonymous SNV,"CACNA1A:NM_001127221:exon32:c.C5035T:p.R1679C,CACNA1A:NM_001127222:exon32:c.C5032T:p.R1678C",D,D,D,D,D,D
chr19,15366352,15366352,C,T,P270959_F,BRD4,Silent,NM_001330384,exon10,c.G1803A,p.S601S,SNP,SNVindel,exonic,BRD4,NA,synonymous SNV,"BRD4:NM_001330384:exon10:c.G1803A:p.S601S,BRD4:NM_014299:exon10:c.G1803A:p.S601S,BRD4:NM_058243:exon10:c.G1803A:p.S601S",NA,NA,NA,NA,NA,NA
chr19,16504805,16504805,C,T,P270959_F,EPS15L1,Silent,NM_001258374,exon18,c.G1923A,p.P641P,SNP,SNVindel,exonic,EPS15L1,NA,synonymous SNV,"EPS15L1:NM_001258374:exon18:c.G1923A:p.P641P,EPS15L1:NM_001258375:exon18:c.G1923A:p.P641P,EPS15L1:NM_021235:exon18:c.G1923A:p.P641P",NA,NA,NA,NA,NA,NA
chr19,18120830,18120830,C,T,P270959_F,ARRDC2,Silent,NM_001025604,exon5,c.C816T,p.H272H,SNP,SNVindel,exonic,ARRDC2,NA,synonymous SNV,"ARRDC2:NM_001025604:exon5:c.C816T:p.H272H,ARRDC2:NM_001286826:exon5:c.C831T:p.H277H,ARRDC2:NM_015683:exon5:c.C831T:p.H277H",NA,NA,NA,NA,NA,NA
chr19,18572479,18572479,C,T,P270959_F,ELL,Missense_Mutation,NM_006532,exon5,c.G653A,p.R218Q,SNP,SNVindel,exonic,ELL,NA,nonsynonymous SNV,ELL:NM_006532:exon5:c.G653A:p.R218Q,D,D,D,T,N,T
chr19,19767902,19767902,C,T,P270959_F,ATP13A1,Silent,NM_020410,exon5,c.G807A,p.T269T,SNP,SNVindel,exonic,ATP13A1,NA,synonymous SNV,ATP13A1:NM_020410:exon5:c.G807A:p.T269T,NA,NA,NA,NA,NA,NA
chr19,21910056,21910056,G,C,P270959_F,ZNF100,Missense_Mutation,NM_001351672,exon3,c.C413G,p.A138G,SNP,SNVindel,exonic,ZNF100,NA,nonsynonymous SNV,"ZNF100:NM_001351672:exon3:c.C413G:p.A138G,ZNF100:NM_001351670:exon4:c.C959G:p.A320G,ZNF100:NM_001351671:exon4:c.C755G:p.A252G,ZNF100:NM_001351669:exon5:c.C1055G:p.A352G,ZNF100:NM_173531:exon5:c.C1058G:p.A353G",D,.,N,T,D,T
chr19,21910064,21910064,A,G,P270959_F,ZNF100,Silent,NM_001351672,exon3,c.T405C,p.C135C,SNP,SNVindel,exonic,ZNF100,NA,synonymous SNV,"ZNF100:NM_001351672:exon3:c.T405C:p.C135C,ZNF100:NM_001351670:exon4:c.T951C:p.C317C,ZNF100:NM_001351671:exon4:c.T747C:p.C249C,ZNF100:NM_001351669:exon5:c.T1047C:p.C349C,ZNF100:NM_173531:exon5:c.T1050C:p.C350C",NA,NA,NA,NA,NA,NA
chr19,33355081,33355081,G,A,P270959_F,SLC7A9,Silent,NM_001126335,exon4,c.C399T,p.S133S,SNP,SNVindel,exonic,SLC7A9,NA,synonymous SNV,"SLC7A9:NM_001126335:exon4:c.C399T:p.S133S,SLC7A9:NM_001243036:exon4:c.C399T:p.S133S,SLC7A9:NM_014270:exon4:c.C399T:p.S133S",NA,NA,NA,NA,NA,NA
chr19,33464178,33464178,C,T,P270959_F,FAAP24,Missense_Mutation,NM_152266,exon2,c.C76T,p.R26C,SNP,SNVindel,exonic,FAAP24,NA,nonsynonymous SNV,FAAP24:NM_152266:exon2:c.C76T:p.R26C,.,D,D,T,.,T
chr19,34869857,34869857,A,C,P270959_F,GPI,Missense_Mutation,NM_001289790,exon6,c.A568C,p.T190P,SNP,SNVindel,exonic,GPI,NA,nonsynonymous SNV,"GPI:NM_001289790:exon6:c.A568C:p.T190P,GPI:NM_000175:exon7:c.A652C:p.T218P,GPI:NM_001184722:exon7:c.A685C:p.T229P,GPI:NM_001329911:exon7:c.A652C:p.T218P,GPI:NM_001289789:exon8:c.A769C:p.T257P,GPI:NM_001329909:exon8:c.A652C:p.T218P,GPI:NM_001329910:exon8:c.A652C:p.T218P",D,D,D,D,D,D
chr19,36831976,36831976,G,A,P270959_F,ZFP14,Missense_Mutation,NM_001297619,exon5,c.C755T,p.T252M,SNP,SNVindel,exonic,ZFP14,NA,nonsynonymous SNV,"ZFP14:NM_001297619:exon5:c.C755T:p.T252M,ZFP14:NM_020917:exon5:c.C752T:p.T251M",D,D,D,T,D,T
chr19,39008205,39008205,G,A,P270959_F,RYR1,Missense_Mutation,NM_000540,exon66,c.G9892A,p.A3298T,SNP,SNVindel,exonic,RYR1,NA,nonsynonymous SNV,"RYR1:NM_000540:exon66:c.G9892A:p.A3298T,RYR1:NM_001042723:exon66:c.G9892A:p.A3298T",T,U,N,D,N,D
chr19,39123280,39123280,A,G,P270959_F,EIF3K,Missense_Mutation,NM_001308393,exon6,c.A200G,p.D67G,SNP,SNVindel,exonic,EIF3K,NA,nonsynonymous SNV,"EIF3K:NM_001308393:exon6:c.A200G:p.D67G,EIF3K:NM_013234:exon6:c.A461G:p.D154G",T,D,D,.,D,T
chr19,39221821,39221821,C,T,P270959_F,CAPN12,Missense_Mutation,NM_144691,exon19,c.G2000A,p.R667H,SNP,SNVindel,exonic,CAPN12,NA,nonsynonymous SNV,CAPN12:NM_144691:exon19:c.G2000A:p.R667H,D,D,D,T,D,T
chr19,39907551,39907551,C,T,P270959_F,PLEKHG2,Missense_Mutation,NM_001351693,exon7,c.C478T,p.R160C,SNP,SNVindel,exonic,PLEKHG2,NA,nonsynonymous SNV,"PLEKHG2:NM_001351693:exon7:c.C478T:p.R160C,PLEKHG2:NM_001351694:exon7:c.C655T:p.R219C,PLEKHG2:NM_022835:exon7:c.C655T:p.R219C",T,D,D,T,D,T
chr19,39976420,39976420,C,T,P270959_F,TIMM50,Silent,NM_001329559,exon5,c.C126T,p.T42T,SNP,SNVindel,exonic,TIMM50,NA,synonymous SNV,"TIMM50:NM_001329559:exon5:c.C126T:p.T42T,TIMM50:NM_001001563:exon6:c.C465T:p.T155T",NA,NA,NA,NA,NA,NA
chr19,40368736,40368736,C,T,P270959_F,FCGBP,Silent,NM_003890,exon28,c.G12612A,p.T4204T,SNP,SNVindel,exonic,FCGBP,NA,synonymous SNV,FCGBP:NM_003890:exon28:c.G12612A:p.T4204T,NA,NA,NA,NA,NA,NA
chr19,40895470,40895470,G,A,P270959_F,HIPK4,Missense_Mutation,NM_144685,exon1,c.C340T,p.R114C,SNP,SNVindel,exonic,HIPK4,NA,nonsynonymous SNV,HIPK4:NM_144685:exon1:c.C340T:p.R114C,D,D,D,T,D,T
chr19,41040036,41040036,G,A,P270959_F,SPTBN4,Missense_Mutation,NM_025213,exon3,c.G173A,p.R58Q,SNP,SNVindel,exonic,SPTBN4,NA,nonsynonymous SNV,"SPTBN4:NM_025213:exon3:c.G173A:p.R58Q,SPTBN4:NM_020971:exon20:c.G4145A:p.R1382Q",T,D,N,T,N,T
chr19,41135350,41135350,C,T,P270959_F,LTBP4,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LTBP4,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,42301880,42301880,C,T,P270959_F,CEACAM3,Nonsense_Mutation,NM_001277163,exon2,c.C424T,p.Q142X,SNP,SNVindel,exonic,CEACAM3,NA,stopgain,"CEACAM3:NM_001277163:exon2:c.C424T:p.Q142X,CEACAM3:NM_001815:exon2:c.C424T:p.Q142X",.,.,A,.,.,.
chr19,42729449,42729449,G,A,P270959_F,ZNF526,Silent,NM_001314033,exon3,c.G894A,p.P298P,SNP,SNVindel,exonic,ZNF526,NA,synonymous SNV,"ZNF526:NM_001314033:exon3:c.G894A:p.P298P,ZNF526:NM_133444:exon3:c.G894A:p.P298P",NA,NA,NA,NA,NA,NA
chr19,42744268,42744268,C,T,P270959_F,GSK3A,Missense_Mutation,NM_019884,exon2,c.G310A,p.V104I,SNP,SNVindel,exonic,GSK3A,NA,nonsynonymous SNV,GSK3A:NM_019884:exon2:c.G310A:p.V104I,T,N,D,T,N,T
chr19,42818459,42818459,G,A,P270959_F,TMEM145,Silent,NM_001366910,exon2,c.G156A,p.S52S,SNP,SNVindel,exonic,TMEM145,NA,synonymous SNV,"TMEM145:NM_001366910:exon2:c.G156A:p.S52S,TMEM145:NM_173633:exon2:c.G156A:p.S52S",NA,NA,NA,NA,NA,NA
chr19,43430676,43430676,G,A,P270959_F,PSG7,Missense_Mutation,NM_001206650,exon3,c.C536T,p.T179M,SNP,SNVindel,exonic,PSG7,NA,nonsynonymous SNV,"PSG7:NM_001206650:exon3:c.C536T:p.T179M,PSG7:NM_001290042:exon4:c.C359T:p.T120M",.,.,.,.,.,.
chr19,43858105,43858105,C,T,P270959_F,CD177,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CD177,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,44278519,44278519,G,A,P270959_F,KCNN4,Missense_Mutation,NM_002250,exon3,c.C508T,p.R170C,SNP,SNVindel,exonic,KCNN4,NA,nonsynonymous SNV,KCNN4:NM_002250:exon3:c.C508T:p.R170C,D,D,D,D,D,D
chr19,47951365,47951365,G,A,P270959_F,SLC8A2,Silent,NM_015063,exon4,c.C1464T,p.G488G,SNP,SNVindel,exonic,SLC8A2,NA,synonymous SNV,SLC8A2:NM_015063:exon4:c.C1464T:p.G488G,NA,NA,NA,NA,NA,NA
chr19,47960421,47960421,C,T,P270959_F,SLC8A2,Missense_Mutation,NM_015063,exon3,c.G1106A,p.R369H,SNP,SNVindel,exonic,SLC8A2,NA,nonsynonymous SNV,SLC8A2:NM_015063:exon3:c.G1106A:p.R369H,D,N,D,T,D,T
chr19,48244640,48244640,G,A,P270959_F,EHD2,Missense_Mutation,NM_014601,exon6,c.G1583A,p.R528H,SNP,SNVindel,exonic,EHD2,NA,nonsynonymous SNV,EHD2:NM_014601:exon6:c.G1583A:p.R528H,T,N,N,T,N,T
chr19,48790081,48790081,G,A,P270959_F,ZNF114,Silent,NM_001331097,exon6,c.G1200A,p.S400S,SNP,SNVindel,exonic,ZNF114,NA,synonymous SNV,"ZNF114:NM_001331097:exon6:c.G1200A:p.S400S,ZNF114:NM_001331098:exon6:c.G1338A:p.S446S,ZNF114:NM_001369811:exon6:c.G1200A:p.S400S,ZNF114:NM_001369812:exon6:c.G1200A:p.S400S,ZNF114:NM_153608:exon6:c.G1200A:p.S400S",NA,NA,NA,NA,NA,NA
chr19,49425646,49425646,C,T,P270959_F,NUCB1,Missense_Mutation,NM_006184,exon13,c.C1351T,p.R451W,SNP,SNVindel,exonic,NUCB1,NA,nonsynonymous SNV,NUCB1:NM_006184:exon13:c.C1351T:p.R451W,D,N,N,T,N,T
chr19,49658233,49658233,G,A,P270959_F,HRC,Missense_Mutation,NM_002152,exon1,c.C262T,p.R88C,SNP,SNVindel,exonic,HRC,NA,nonsynonymous SNV,HRC:NM_002152:exon1:c.C262T:p.R88C,D,.,N,T,N,T
chr19,50905094,50905094,C,T,P270959_F,POLD1,Missense_Mutation,NM_001308632,exon3,c.C376T,p.R126C,SNP,SNVindel,exonic,POLD1,NA,nonsynonymous SNV,"POLD1:NM_001308632:exon3:c.C376T:p.R126C,POLD1:NM_001256849:exon4:c.C376T:p.R126C,POLD1:NM_002691:exon4:c.C376T:p.R126C",D,N,D,T,D,T
chr19,50957350,50957350,C,T,P270959_F,MYBPC2,Missense_Mutation,NM_004533,exon17,c.C1823T,p.A608V,SNP,SNVindel,exonic,MYBPC2,NA,nonsynonymous SNV,MYBPC2:NM_004533:exon17:c.C1823T:p.A608V,T,U,D,T,D,T
chr19,51506994,51506994,G,A,P270959_F,KLK9,Missense_Mutation,NM_012315,exon4,c.C569T,p.A190V,SNP,SNVindel,exonic,KLK9,NA,nonsynonymous SNV,KLK9:NM_012315:exon4:c.C569T:p.A190V,.,.,D,D,.,D
chr19,53952853,53952853,A,G,P270959_F,ZNF761,Missense_Mutation,NM_001289953,exon3,c.A104G,p.D35G,SNP,SNVindel,exonic,ZNF761;ZNF765-ZNF761,NA,nonsynonymous SNV,"ZNF761:NM_001289953:exon3:c.A104G:p.D35G,ZNF761:NM_001289951:exon4:c.A104G:p.D35G,ZNF761:NM_001289952:exon4:c.A104G:p.D35G,ZNF761:NM_001008401:exon5:c.A104G:p.D35G,ZNF765-ZNF761:NM_001350496:exon12:c.A104G:p.D35G",.,.,.,.,.,.
chr19,53989974,53989974,A,G,P270959_F,ZNF813,Missense_Mutation,NM_001004301,exon3,c.A104G,p.D35G,SNP,SNVindel,exonic,ZNF813,NA,nonsynonymous SNV,ZNF813:NM_001004301:exon3:c.A104G:p.D35G,D,.,N,T,D,T
chr19,54819011,54819011,C,T,P270959_F,LILRA5,Silent,NM_181985,exon5,c.G699A,p.P233P,SNP,SNVindel,exonic,LILRA5,NA,synonymous SNV,"LILRA5:NM_181985:exon5:c.G699A:p.P233P,LILRA5:NM_021250:exon6:c.G735A:p.P245P",NA,NA,NA,NA,NA,NA
chr19,54849712,54849712,C,T,P270959_F,LILRA4,Missense_Mutation,NM_012276,exon3,c.G310A,p.A104T,SNP,SNVindel,exonic,LILRA4,NA,nonsynonymous SNV,LILRA4:NM_012276:exon3:c.G310A:p.A104T,T,N,N,T,N,T
chr19,55494085,55494085,C,T,P270959_F,NLRP2,Missense_Mutation,NM_001174082,exon5,c.C953T,p.A318V,SNP,SNVindel,exonic,NLRP2,NA,nonsynonymous SNV,"NLRP2:NM_001174082:exon5:c.C953T:p.A318V,NLRP2:NM_001174081:exon6:c.C1019T:p.A340V,NLRP2:NM_001348003:exon6:c.C1010T:p.A337V,NLRP2:NM_017852:exon6:c.C1019T:p.A340V,NLRP2:NM_001174083:exon7:c.C950T:p.A317V",D,.,N,T,D,T
chr19,55994405,55994405,G,A,P270959_F,ZNF628,Silent,NM_033113,exon3,c.G1845A,p.T615T,SNP,SNVindel,exonic,ZNF628,NA,synonymous SNV,ZNF628:NM_033113:exon3:c.G1845A:p.T615T,NA,NA,NA,NA,NA,NA
chr19,56599957,56599957,C,T,P270959_F,ZNF787,Missense_Mutation,NM_001002836,exon3,c.G584A,p.R195H,SNP,SNVindel,exonic,ZNF787,NA,nonsynonymous SNV,ZNF787:NM_001002836:exon3:c.G584A:p.R195H,.,.,N,.,.,T
chr19,57061472,57061472,C,T,P270959_F,ZFP28,Missense_Mutation,NM_001308440,exon6,c.C724T,p.R242C,SNP,SNVindel,exonic,ZFP28,NA,nonsynonymous SNV,"ZFP28:NM_001308440:exon6:c.C724T:p.R242C,ZFP28:NM_020828:exon6:c.C724T:p.R242C",D,N,N,T,N,T
chr19,58213070,58213070,G,A,P270959_F,ZNF154,Missense_Mutation,NM_001085384,exon3,c.C1247T,p.T416M,SNP,SNVindel,exonic,ZNF154,NA,nonsynonymous SNV,ZNF154:NM_001085384:exon3:c.C1247T:p.T416M,D,.,N,T,N,T
chr20,2736394,2736394,C,T,P270959_F,EBF4,Silent,NM_001110514,exon16,c.C1650T,p.S550S,SNP,SNVindel,exonic,EBF4,NA,synonymous SNV,EBF4:NM_001110514:exon16:c.C1650T:p.S550S,NA,NA,NA,NA,NA,NA
chr20,3147403,3147403,C,T,P270959_F,LZTS3,Missense_Mutation,NM_001282533,exon3,c.G407A,p.R136H,SNP,SNVindel,exonic,LZTS3,NA,nonsynonymous SNV,"LZTS3:NM_001282533:exon3:c.G407A:p.R136H,LZTS3:NM_001365618:exon3:c.G407A:p.R136H,LZTS3:NM_001367609:exon3:c.G497A:p.R166H",T,D,D,T,N,T
chr20,3804834,3804834,C,T,P270959_F,AP5S1,Missense_Mutation,NM_001204446,exon3,c.C493T,p.R165C,SNP,SNVindel,exonic,AP5S1,NA,nonsynonymous SNV,"AP5S1:NM_001204446:exon3:c.C493T:p.R165C,AP5S1:NM_001204447:exon3:c.C493T:p.R165C,AP5S1:NM_018347:exon3:c.C493T:p.R165C",D,N,D,.,D,T
chr20,4771209,4771209,C,T,P270959_F,RASSF2,Missense_Mutation,NM_170774,exon6,c.G425A,p.R142H,SNP,SNVindel,exonic,RASSF2,NA,nonsynonymous SNV,"RASSF2:NM_170774:exon6:c.G425A:p.R142H,RASSF2:NM_014737:exon7:c.G425A:p.R142H",D,D,D,T,D,T
chr20,5753615,5753615,G,A,P270959_F,SHLD1,Missense_Mutation,NM_001303479,exon2,c.G104A,p.S35N,SNP,SNVindel,exonic,SHLD1,NA,nonsynonymous SNV,"SHLD1:NM_001303479:exon2:c.G104A:p.S35N,SHLD1:NM_152504:exon2:c.G104A:p.S35N,SHLD1:NM_001303477:exon3:c.G104A:p.S35N",T,N,N,T,N,T
chr20,5965573,5965573,G,A,P270959_F,MCM8,Missense_Mutation,NM_001281522,exon14,c.G1739A,p.R580H,SNP,SNVindel,exonic,MCM8,NA,nonsynonymous SNV,"MCM8:NM_001281522:exon14:c.G1739A:p.R580H,MCM8:NM_001281520:exon15:c.G1880A:p.R627H,MCM8:NM_001281521:exon15:c.G2000A:p.R667H,MCM8:NM_032485:exon15:c.G1880A:p.R627H,MCM8:NM_182802:exon15:c.G1832A:p.R611H",D,D,D,T,N,T
chr20,8639213,8639213,G,A,P270959_F,PLCB1,Missense_Mutation,NM_015192,exon9,c.G724A,p.V242I,SNP,SNVindel,exonic,PLCB1,NA,nonsynonymous SNV,"PLCB1:NM_015192:exon9:c.G724A:p.V242I,PLCB1:NM_182734:exon9:c.G724A:p.V242I",T,D,D,T,N,T
chr20,8696945,8696945,C,T,P270959_F,PLCB1,Nonsense_Mutation,NM_015192,exon13,c.C1285T,p.R429X,SNP,SNVindel,exonic,PLCB1,NA,stopgain,"PLCB1:NM_015192:exon13:c.C1285T:p.R429X,PLCB1:NM_182734:exon13:c.C1285T:p.R429X",.,D,A,.,.,.
chr20,13090818,13090818,C,T,P270959_F,SPTLC3,Missense_Mutation,NM_018327,exon7,c.C886T,p.R296C,SNP,SNVindel,exonic,SPTLC3,NA,nonsynonymous SNV,"SPTLC3:NM_018327:exon7:c.C886T:p.R296C,SPTLC3:NM_001349945:exon8:c.C886T:p.R296C",D,D,D,D,D,D
chr20,23667808,23667808,C,T,P270959_F,CST4,Missense_Mutation,NM_001899,exon2,c.G259A,p.V87I,SNP,SNVindel,exonic,CST4,NA,nonsynonymous SNV,CST4:NM_001899:exon2:c.G259A:p.V87I,T,N,N,T,N,T
chr20,30584610,30584610,G,A,P270959_F,XKR7,Missense_Mutation,NM_001011718,exon3,c.G1090A,p.V364M,SNP,SNVindel,exonic,XKR7,NA,nonsynonymous SNV,XKR7:NM_001011718:exon3:c.G1090A:p.V364M,.,N,D,.,.,T
chr20,31984567,31984567,C,A,P270959_F,CDK5RAP1,Missense_Mutation,NM_001278167,exon2,c.G304T,p.V102F,SNP,SNVindel,exonic,CDK5RAP1,NA,nonsynonymous SNV,"CDK5RAP1:NM_001278167:exon2:c.G304T:p.V102F,CDK5RAP1:NM_001278168:exon2:c.G304T:p.V102F,CDK5RAP1:NM_001278169:exon2:c.G223T:p.V75F,CDK5RAP1:NM_001365728:exon2:c.G304T:p.V102F,CDK5RAP1:NM_016082:exon2:c.G307T:p.V103F,CDK5RAP1:NM_016408:exon2:c.G304T:p.V102F",T,D,D,.,D,T
chr20,33045245,33045245,C,T,P270959_F,ITCH,Nonsense_Mutation,NM_001257138,exon12,c.C931T,p.R311X,SNP,SNVindel,exonic,ITCH,NA,stopgain,"ITCH:NM_001257138:exon12:c.C931T:p.R311X,ITCH:NM_001324198:exon13:c.C1261T:p.R421X,ITCH:NM_031483:exon13:c.C1261T:p.R421X,ITCH:NM_001257137:exon14:c.C1384T:p.R462X,ITCH:NM_001324197:exon14:c.C1384T:p.R462X",.,D,A,.,.,.
chr20,33337979,33337979,C,T,P270959_F,NCOA6,Silent,NM_001242539,exon7,c.G2019A,p.S673S,SNP,SNVindel,exonic,NCOA6,NA,synonymous SNV,"NCOA6:NM_001242539:exon7:c.G2019A:p.S673S,NCOA6:NM_014071:exon9:c.G2019A:p.S673S,NCOA6:NM_001318240:exon10:c.G2019A:p.S673S",NA,NA,NA,NA,NA,NA
chr20,33703692,33703692,C,T,P270959_F,EDEM2,Silent,NM_001145025,exon10,c.G1170A,p.S390S,SNP,SNVindel,exonic,EDEM2;MMP24-AS1-EDEM2,NA,synonymous SNV,"EDEM2:NM_001145025:exon10:c.G1170A:p.S390S,EDEM2:NM_018217:exon11:c.G1281A:p.S427S,MMP24-AS1-EDEM2:NM_001355008:exon15:c.G1158A:p.S386S",NA,NA,NA,NA,NA,NA
chr20,43030028,43030028,A,C,P270959_F,HNF4A,Missense_Mutation,NM_000457,exon1,c.A16C,p.T6P,SNP,SNVindel,exonic,HNF4A,NA,nonsynonymous SNV,"HNF4A:NM_000457:exon1:c.A16C:p.T6P,HNF4A:NM_178849:exon1:c.A16C:p.T6P,HNF4A:NM_178850:exon1:c.A16C:p.T6P",T,.,D,D,N,T
chr20,43108895,43108895,C,T,P270959_F,TTPAL,Nonsense_Mutation,NM_001039199,exon2,c.C256T,p.R86X,SNP,SNVindel,exonic,TTPAL,NA,stopgain,"TTPAL:NM_001039199:exon2:c.C256T:p.R86X,TTPAL:NM_001261839:exon2:c.C256T:p.R86X,TTPAL:NM_024331:exon3:c.C256T:p.R86X",.,D,A,.,.,.
chr20,46292273,46292273,G,A,P270959_F,SULF2,Silent,NM_001161841,exon16,c.C2151T,p.N717N,SNP,SNVindel,exonic,SULF2,NA,synonymous SNV,"SULF2:NM_001161841:exon16:c.C2151T:p.N717N,SULF2:NM_018837:exon16:c.C2151T:p.N717N,SULF2:NM_198596:exon16:c.C2151T:p.N717N",NA,NA,NA,NA,NA,NA
chr20,47733750,47733750,G,A,P270959_F,STAU1,Silent,NM_001322927,exon10,c.C1320T,p.N440N,SNP,SNVindel,exonic,STAU1,NA,synonymous SNV,"STAU1:NM_001322927:exon10:c.C1320T:p.N440N,STAU1:NM_017454:exon10:c.C1302T:p.N434N,STAU1:NM_001319134:exon11:c.C1320T:p.N440N,STAU1:NM_001322930:exon11:c.C1545T:p.N515N,STAU1:NM_001322932:exon11:c.C1563T:p.N521N,STAU1:NM_017452:exon11:c.C1302T:p.N434N,STAU1:NM_001037328:exon12:c.C1320T:p.N440N,STAU1:NM_001322933:exon12:c.C1563T:p.N521N,STAU1:NM_004602:exon12:c.C1302T:p.N434N,STAU1:NM_017453:exon12:c.C1545T:p.N515N,STAU1:NM_001319135:exon13:c.C1545T:p.N515N,STAU1:NM_001322928:exon13:c.C1440T:p.N480N,STAU1:NM_001322929:exon13:c.C1545T:p.N515N,STAU1:NM_001322931:exon14:c.C1422T:p.N474N",NA,NA,NA,NA,NA,NA
chr20,49621046,49621046,G,A,P270959_F,KCNG1,Missense_Mutation,NM_002237,exon3,c.C1072T,p.R358C,SNP,SNVindel,exonic,KCNG1,NA,nonsynonymous SNV,KCNG1:NM_002237:exon3:c.C1072T:p.R358C,D,D,D,D,D,D
chr20,60883769,60883769,C,T,P270959_F,ADRM1,Silent,NM_001281437,exon9,c.C1059T,p.G353G,SNP,SNVindel,exonic,ADRM1,NA,synonymous SNV,"ADRM1:NM_001281437:exon9:c.C1059T:p.G353G,ADRM1:NM_001281438:exon9:c.C1059T:p.G353G,ADRM1:NM_007002:exon10:c.C1176T:p.G392G,ADRM1:NM_175573:exon10:c.C1176T:p.G392G",NA,NA,NA,NA,NA,NA
chr20,60887366,60887366,G,A,P270959_F,LAMA5,Missense_Mutation,NM_005560,exon69,c.C9367T,p.R3123C,SNP,SNVindel,exonic,LAMA5,NA,nonsynonymous SNV,LAMA5:NM_005560:exon69:c.C9367T:p.R3123C,D,D,D,T,D,T
chr20,62196178,62196178,G,A,P270959_F,HELZ2,Missense_Mutation,NM_033405,exon3,c.C2290T,p.R764C,SNP,SNVindel,exonic,HELZ2,NA,nonsynonymous SNV,"HELZ2:NM_033405:exon3:c.C2290T:p.R764C,HELZ2:NM_001037335:exon9:c.C3997T:p.R1333C",T,N,N,T,N,T
chr21,33697563,33697563,G,A,P270959_F,URB1,Silent,NM_014825,exon31,c.C5097T,p.G1699G,SNP,SNVindel,exonic,URB1,NA,synonymous SNV,URB1:NM_014825:exon31:c.C5097T:p.G1699G,NA,NA,NA,NA,NA,NA
chr21,34923487,34923487,G,A,P270959_F,SON,Silent,NM_001291411,exon3,c.G1950A,p.A650A,SNP,SNVindel,exonic,SON,NA,synonymous SNV,"SON:NM_001291411:exon3:c.G1950A:p.A650A,SON:NM_032195:exon3:c.G1950A:p.A650A,SON:NM_138927:exon3:c.G1950A:p.A650A",NA,NA,NA,NA,NA,NA
chr21,35144467,35144467,G,A,P270959_F,ITSN1,Missense_Mutation,NM_001001132,exon12,c.G1145A,p.R382H,SNP,SNVindel,exonic,ITSN1,NA,nonsynonymous SNV,"ITSN1:NM_001001132:exon12:c.G1145A:p.R382H,ITSN1:NM_001331008:exon12:c.G1145A:p.R382H,ITSN1:NM_001331009:exon12:c.G1145A:p.R382H,ITSN1:NM_001331010:exon12:c.G1145A:p.R382H,ITSN1:NM_001331011:exon12:c.G1145A:p.R382H,ITSN1:NM_001331012:exon12:c.G1034A:p.R345H,ITSN1:NM_003024:exon12:c.G1145A:p.R382H",D,D,D,T,D,T
chr21,43161373,43161373,G,A,P270959_F,RIPK4,Silent,NM_020639,exon8,c.C1980T,p.G660G,SNP,SNVindel,exonic,RIPK4,NA,synonymous SNV,RIPK4:NM_020639:exon8:c.C1980T:p.G660G,NA,NA,NA,NA,NA,NA
chr21,43533711,43533711,C,A,P270959_F,UMODL1,Silent,NM_001199527,exon12,c.C2301A,p.V767V,SNP,SNVindel,exonic,UMODL1,NA,synonymous SNV,"UMODL1:NM_001199527:exon12:c.C2301A:p.V767V,UMODL1:NM_173568:exon12:c.C2517A:p.V839V,UMODL1:NM_001004416:exon13:c.C2133A:p.V711V,UMODL1:NM_001199528:exon13:c.C1917A:p.V639V",NA,NA,NA,NA,NA,NA
chr21,44450064,44450064,G,A,P270959_F,PKNOX1,Silent,NM_001286258,exon10,c.G813A,p.S271S,SNP,SNVindel,exonic,PKNOX1,NA,synonymous SNV,"PKNOX1:NM_001286258:exon10:c.G813A:p.S271S,PKNOX1:NM_001320694:exon11:c.G1161A:p.S387S,PKNOX1:NM_004571:exon11:c.G1164A:p.S388S",NA,NA,NA,NA,NA,NA
chr21,45110316,45110316,G,A,P270959_F,RRP1B,Missense_Mutation,NM_015056,exon14,c.G2014A,p.V672I,SNP,SNVindel,exonic,RRP1B,NA,nonsynonymous SNV,RRP1B:NM_015056:exon14:c.G2014A:p.V672I,.,N,N,T,N,T
chr21,47630622,47630622,C,T,P270959_F,LSS,Missense_Mutation,NM_001145437,exon11,c.G934A,p.A312T,SNP,SNVindel,exonic,LSS,NA,nonsynonymous SNV,"LSS:NM_001145437:exon11:c.G934A:p.A312T,LSS:NM_001001438:exon12:c.G1174A:p.A392T,LSS:NM_001145436:exon12:c.G1141A:p.A381T,LSS:NM_002340:exon12:c.G1174A:p.A392T",T,N,D,T,N,T
chr21,47836417,47836417,C,T,P270959_F,PCNT,Silent,NM_001315529,exon30,c.C6231T,p.S2077S,SNP,SNVindel,exonic,PCNT,NA,synonymous SNV,"PCNT:NM_001315529:exon30:c.C6231T:p.S2077S,PCNT:NM_006031:exon30:c.C6585T:p.S2195S",NA,NA,NA,NA,NA,NA
chr22,17449202,17449202,C,T,P270959_F,GAB4,Missense_Mutation,NM_001366857,exon3,c.G550A,p.V184I,SNP,SNVindel,exonic,GAB4,NA,nonsynonymous SNV,"GAB4:NM_001366857:exon3:c.G550A:p.V184I,GAB4:NM_001037814:exon5:c.G1009A:p.V337I",T,N,N,T,N,T
chr22,18210150,18210150,G,A,P270959_F,BCL2L13,Silent,NM_001270733,exon2,c.G468A,p.P156P,SNP,SNVindel,exonic,BCL2L13,NA,synonymous SNV,"BCL2L13:NM_001270733:exon2:c.G468A:p.P156P,BCL2L13:NM_001270727:exon5:c.G1236A:p.P412P,BCL2L13:NM_001270730:exon5:c.G822A:p.P274P,BCL2L13:NM_001270726:exon6:c.G1380A:p.P460P,BCL2L13:NM_001270729:exon6:c.G822A:p.P274P,BCL2L13:NM_001270731:exon6:c.G822A:p.P274P,BCL2L13:NM_015367:exon7:c.G1308A:p.P436P",NA,NA,NA,NA,NA,NA
chr22,18609386,18609386,G,A,P270959_F,TUBA8,Missense_Mutation,NM_001193414,exon4,c.G443A,p.R148H,SNP,SNVindel,exonic,TUBA8,NA,nonsynonymous SNV,"TUBA8:NM_001193414:exon4:c.G443A:p.R148H,TUBA8:NM_018943:exon4:c.G641A:p.R214H",D,D,D,T,D,T
chr22,22035670,22035670,C,T,P270959_F,PPIL2,Silent,NM_001317996,exon7,c.C378T,p.Y126Y,SNP,SNVindel,exonic,PPIL2,NA,synonymous SNV,"PPIL2:NM_001317996:exon7:c.C378T:p.Y126Y,PPIL2:NM_014337:exon7:c.C378T:p.Y126Y,PPIL2:NM_148175:exon7:c.C378T:p.Y126Y,PPIL2:NM_148176:exon7:c.C378T:p.Y126Y",NA,NA,NA,NA,NA,NA
chr22,29834909,29834909,C,T,P270959_F,RFPL1,Silent,NM_021026,exon1,c.C129T,p.C43C,SNP,SNVindel,exonic,RFPL1,NA,synonymous SNV,RFPL1:NM_021026:exon1:c.C129T:p.C43C,NA,NA,NA,NA,NA,NA
chr22,32109994,32109994,G,A,P270959_F,PRR14L,Silent,NM_173566,exon4,c.C3831T,p.C1277C,SNP,SNVindel,exonic,PRR14L,NA,synonymous SNV,PRR14L:NM_173566:exon4:c.C3831T:p.C1277C,NA,NA,NA,NA,NA,NA
chr22,32992684,32992684,T,C,P270959_F,SYN3,Silent,NM_133633,exon6,c.A750G,p.G250G,SNP,SNVindel,exonic,SYN3,NA,synonymous SNV,"SYN3:NM_133633:exon6:c.A750G:p.G250G,SYN3:NM_001135774:exon7:c.A747G:p.G249G,SYN3:NM_001369907:exon7:c.A750G:p.G250G,SYN3:NM_001369908:exon7:c.A750G:p.G250G,SYN3:NM_001369909:exon7:c.A747G:p.G249G,SYN3:NM_001369910:exon7:c.A747G:p.G249G,SYN3:NM_003490:exon7:c.A750G:p.G250G",NA,NA,NA,NA,NA,NA
chr22,33733727,33733727,G,A,P270959_F,LARGE1,Missense_Mutation,NM_001362951,exon10,c.C1192T,p.R398C,SNP,SNVindel,exonic,LARGE1,NA,nonsynonymous SNV,"LARGE1:NM_001362951:exon10:c.C1192T:p.R398C,LARGE1:NM_001362953:exon10:c.C1192T:p.R398C,LARGE1:NM_133642:exon10:c.C1192T:p.R398C,LARGE1:NM_001362949:exon11:c.C1192T:p.R398C,LARGE1:NM_004737:exon11:c.C1192T:p.R398C",D,D,D,T,D,T
chr22,38046696,38046696,C,T,P270959_F,SH3BP1,Missense_Mutation,NM_001350055,exon16,c.C1562T,p.P521L,SNP,SNVindel,exonic,SH3BP1,NA,nonsynonymous SNV,"SH3BP1:NM_001350055:exon16:c.C1562T:p.P521L,SH3BP1:NM_018957:exon16:c.C1562T:p.P521L",T,N,N,T,N,T
chr22,38477277,38477277,G,A,P270959_F,SLC16A8,Silent,NM_013356,exon4,c.C768T,p.Y256Y,SNP,SNVindel,exonic,SLC16A8,NA,synonymous SNV,SLC16A8:NM_013356:exon4:c.C768T:p.Y256Y,NA,NA,NA,NA,NA,NA
chr22,39994228,39994228,C,T,P270959_F,CACNA1I,Silent,NM_001003406,exon2,c.C309T,p.D103D,SNP,SNVindel,exonic,CACNA1I,NA,synonymous SNV,"CACNA1I:NM_001003406:exon2:c.C309T:p.D103D,CACNA1I:NM_021096:exon2:c.C309T:p.D103D",NA,NA,NA,NA,NA,NA
chr22,40417597,40417597,C,T,P270959_F,FAM83F,Silent,NM_138435,exon4,c.C1083T,p.G361G,SNP,SNVindel,exonic,FAM83F,NA,synonymous SNV,FAM83F:NM_138435:exon4:c.C1083T:p.G361G,NA,NA,NA,NA,NA,NA
chr22,40814926,40814926,C,T,P270959_F,MRTFA,Missense_Mutation,NM_001282660,exon9,c.G1516A,p.G506R,SNP,SNVindel,exonic,MRTFA,NA,nonsynonymous SNV,"MRTFA:NM_001282660:exon9:c.G1516A:p.G506R,MRTFA:NM_001318139:exon10:c.G1621A:p.G541R,MRTFA:NM_001282661:exon11:c.G1666A:p.G556R,MRTFA:NM_001282662:exon12:c.G1816A:p.G606R,MRTFA:NM_020831:exon12:c.G1816A:p.G606R",T,N,N,T,N,T
chr22,41623236,41623236,C,T,P270959_F,L3MBTL2,Silent,NM_031488,exon14,c.C1731T,p.Y577Y,SNP,SNVindel,exonic,L3MBTL2,NA,synonymous SNV,L3MBTL2:NM_031488:exon14:c.C1731T:p.Y577Y,NA,NA,NA,NA,NA,NA
chr22,42539458,42539458,G,A,P270959_F,CYP2D7,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CYP2D7,NA,unknown,UNKNOWN,.,D,.,.,.,T
chr22,44514942,44514942,G,A,P270959_F,PARVB,Missense_Mutation,NM_001243385,exon4,c.G187A,p.V63M,SNP,SNVindel,exonic,PARVB,NA,nonsynonymous SNV,"PARVB:NM_001243385:exon4:c.G187A:p.V63M,PARVB:NM_001243386:exon4:c.G142A:p.V48M,PARVB:NM_013327:exon4:c.G298A:p.V100M,PARVB:NM_001003828:exon5:c.G397A:p.V133M",T,N,D,T,N,T
chr22,45204966,45204966,A,G,P270959_F,ARHGAP8,Missense_Mutation,NM_001017526,exon5,c.A380G,p.Y127C,SNP,SNVindel,exonic,ARHGAP8,NA,nonsynonymous SNV,ARHGAP8:NM_001017526:exon5:c.A380G:p.Y127C,T,.,N,T,N,T
chr22,47091174,47091174,T,C,P270959_F,CERK,Missense_Mutation,NM_022766,exon9,c.A982G,p.T328A,SNP,SNVindel,exonic,CERK,NA,nonsynonymous SNV,CERK:NM_022766:exon9:c.A982G:p.T328A,T,D,N,T,D,T
chr22,50018190,50018190,C,T,P270959_F,C22orf34,Missense_Mutation,NM_001289922,exon4,c.G271A,p.A91T,SNP,SNVindel,exonic,C22orf34,NA,nonsynonymous SNV,C22orf34:NM_001289922:exon4:c.G271A:p.A91T,NA,NA,NA,NA,NA,NA
chr22,50900834,50900834,G,T,P270959_F,SBF1,Silent,NM_001365819,exon19,c.C2199A,p.R733R,SNP,SNVindel,exonic,SBF1,NA,synonymous SNV,"SBF1:NM_001365819:exon19:c.C2199A:p.R733R,SBF1:NM_002972:exon19:c.C2196A:p.R732R",NA,NA,NA,NA,NA,NA
chr22,50962590,50962590,C,A,P270959_F,SCO2,Missense_Mutation,NM_001169109,exon2,c.G251T,p.R84M,SNP,SNVindel,exonic,SCO2,NA,nonsynonymous SNV,"SCO2:NM_001169109:exon2:c.G251T:p.R84M,SCO2:NM_001169110:exon2:c.G251T:p.R84M,SCO2:NM_001169111:exon2:c.G251T:p.R84M,SCO2:NM_005138:exon2:c.G251T:p.R84M",D,N,N,D,N,T
chr22,51016272,51016272,G,A,P270959_F,CPT1B,Missense_Mutation,NM_001145137,exon1,c.C73T,p.R25W,SNP,SNVindel,exonic,CPT1B,NA,nonsynonymous SNV,"CPT1B:NM_001145137:exon1:c.C73T:p.R25W,CPT1B:NM_001145134:exon2:c.C73T:p.R25W,CPT1B:NM_001145135:exon2:c.C73T:p.R25W,CPT1B:NM_004377:exon2:c.C73T:p.R25W,CPT1B:NM_152245:exon2:c.C73T:p.R25W,CPT1B:NM_152246:exon2:c.C73T:p.R25W",D,N,D,D,D,D
chrX,3242357,3242357,T,G,P270959_F,MXRA5,Missense_Mutation,NM_015419,exon5,c.A1369C,p.T457P,SNP,SNVindel,exonic,MXRA5,NA,nonsynonymous SNV,MXRA5:NM_015419:exon5:c.A1369C:p.T457P,D,U,N,T,D,T
chrX,3261792,3261792,G,A,P270959_F,MXRA5,Missense_Mutation,NM_015419,exon2,c.C83T,p.P28L,SNP,SNVindel,exonic,MXRA5,NA,nonsynonymous SNV,MXRA5:NM_015419:exon2:c.C83T:p.P28L,D,U,D,T,D,T
chrX,6069349,6069349,G,A,P270959_F,NLGN4X,Silent,NM_001282146,exon2,c.C159T,p.G53G,SNP,SNVindel,exonic,NLGN4X,NA,synonymous SNV,"NLGN4X:NM_001282146:exon2:c.C159T:p.G53G,NLGN4X:NM_020742:exon2:c.C159T:p.G53G,NLGN4X:NM_181332:exon2:c.C159T:p.G53G,NLGN4X:NM_001282145:exon3:c.C159T:p.G53G",NA,NA,NA,NA,NA,NA
chrX,9900453,9900453,C,T,P270959_F,SHROOM2,Nonsense_Mutation,NM_001649,exon6,c.C3130T,p.R1044X,SNP,SNVindel,exonic,SHROOM2,NA,stopgain,SHROOM2:NM_001649:exon6:c.C3130T:p.R1044X,.,U,A,.,.,.
chrX,9914724,9914724,A,G,P270959_F,SHROOM2,Missense_Mutation,NM_001320663,exon6,c.A1103G,p.E368G,SNP,SNVindel,exonic,SHROOM2,NA,nonsynonymous SNV,"SHROOM2:NM_001320663:exon6:c.A1103G:p.E368G,SHROOM2:NM_001320664:exon6:c.A1100G:p.E367G,SHROOM2:NM_001649:exon10:c.A4598G:p.E1533G",D,D,D,T,D,T
chrX,12712556,12712556,G,A,P270959_F,FRMPD4,Missense_Mutation,NM_001368400,exon8,c.G796A,p.E266K,SNP,SNVindel,exonic,FRMPD4,NA,nonsynonymous SNV,"FRMPD4:NM_001368400:exon8:c.G796A:p.E266K,FRMPD4:NM_001368396:exon9:c.G922A:p.E308K,FRMPD4:NM_001368397:exon9:c.G916A:p.E306K,FRMPD4:NM_001368399:exon9:c.G907A:p.E303K,FRMPD4:NM_014728:exon9:c.G916A:p.E306K,FRMPD4:NM_001368401:exon10:c.G892A:p.E298K,FRMPD4:NM_001368402:exon10:c.G892A:p.E298K,FRMPD4:NM_001368395:exon11:c.G1027A:p.E343K,FRMPD4:NM_001368398:exon11:c.G1027A:p.E343K",D,D,D,T,D,D
chrX,17743740,17743740,G,A,P270959_F,NHS,Missense_Mutation,NM_001291868,exon6,c.G920A,p.R307Q,SNP,SNVindel,exonic,NHS,NA,nonsynonymous SNV,"NHS:NM_001291868:exon6:c.G920A:p.R307Q,NHS:NM_198270:exon6:c.G1451A:p.R484Q,NHS:NM_001136024:exon7:c.G983A:p.R328Q,NHS:NM_001291867:exon7:c.G1514A:p.R505Q",D,N,D,T,N,T
chrX,17750558,17750558,G,A,P270959_F,NHS,Missense_Mutation,NM_001291868,exon8,c.G4336A,p.D1446N,SNP,SNVindel,exonic,NHS,NA,nonsynonymous SNV,"NHS:NM_001291868:exon8:c.G4336A:p.D1446N,NHS:NM_198270:exon8:c.G4867A:p.D1623N,NHS:NM_001136024:exon9:c.G4399A:p.D1467N,NHS:NM_001291867:exon9:c.G4930A:p.D1644N",D,D,D,T,N,T
chrX,34149891,34149891,G,C,P270959_F,FAM47A,Missense_Mutation,NM_203408,exon1,c.C505G,p.Q169E,SNP,SNVindel,exonic,FAM47A,NA,nonsynonymous SNV,FAM47A:NM_203408:exon1:c.C505G:p.Q169E,T,.,N,T,N,T
chrX,40597496,40597496,G,A,P270959_F,MED14OS,Missense_Mutation,NM_001289773,exon2,c.G394A,p.A132T,SNP,SNVindel,exonic,MED14OS,NA,nonsynonymous SNV,MED14OS:NM_001289773:exon2:c.G394A:p.A132T,NA,NA,NA,NA,NA,NA
chrX,46359911,46359911,A,G,P270959_F,ZNF674,Silent,NM_001039891,exon6,c.T1113C,p.S371S,SNP,SNVindel,exonic,ZNF674,NA,synonymous SNV,"ZNF674:NM_001039891:exon6:c.T1113C:p.S371S,ZNF674:NM_001146291:exon6:c.T1095C:p.S365S,ZNF674:NM_001190417:exon6:c.T1098C:p.S366S",NA,NA,NA,NA,NA,NA
chrX,46434427,46434427,G,A,P270959_F,CHST7,Missense_Mutation,NM_019886,exon1,c.G1061A,p.R354H,SNP,SNVindel,exonic,CHST7,NA,nonsynonymous SNV,CHST7:NM_019886:exon1:c.G1061A:p.R354H,D,U,D,D,N,D
chrX,47045889,47045889,G,A,P270959_F,RBM10,Missense_Mutation,NM_001204466,exon23,c.G2453A,p.R818Q,SNP,SNVindel,exonic,RBM10,NA,nonsynonymous SNV,"RBM10:NM_001204466:exon23:c.G2453A:p.R818Q,RBM10:NM_152856:exon23:c.G2450A:p.R817Q,RBM10:NM_001204467:exon24:c.G2681A:p.R894Q,RBM10:NM_001204468:exon24:c.G2879A:p.R960Q,RBM10:NM_005676:exon24:c.G2684A:p.R895Q",T,N,D,T,N,T
chrX,48460542,48460542,C,T,P270959_F,WDR13,Missense_Mutation,NM_001166426,exon6,c.C826T,p.R276W,SNP,SNVindel,exonic,WDR13,NA,nonsynonymous SNV,"WDR13:NM_001166426:exon6:c.C826T:p.R276W,WDR13:NM_017883:exon7:c.C1102T:p.R368W,WDR13:NM_001347217:exon8:c.C1102T:p.R368W,WDR13:NM_001347219:exon8:c.C826T:p.R276W",D,D,D,T,D,T
chrX,48826586,48826586,C,T,P270959_F,KCND1,Silent,NM_004979,exon1,c.G93A,p.P31P,SNP,SNVindel,exonic,KCND1,NA,synonymous SNV,KCND1:NM_004979:exon1:c.G93A:p.P31P,NA,NA,NA,NA,NA,NA
chrX,49032440,49032440,C,T,P270959_F,PRICKLE3,Missense_Mutation,NM_001307979,exon9,c.G1226A,p.R409H,SNP,SNVindel,exonic,PRICKLE3,NA,nonsynonymous SNV,"PRICKLE3:NM_001307979:exon9:c.G1226A:p.R409H,PRICKLE3:NM_006150:exon9:c.G1430A:p.R477H",.,N,N,T,.,T
chrX,50339895,50339895,C,T,P270959_F,SHROOM4,Missense_Mutation,NM_020717,exon9,c.G4282A,p.V1428M,SNP,SNVindel,exonic,SHROOM4,NA,nonsynonymous SNV,SHROOM4:NM_020717:exon9:c.G4282A:p.V1428M,D,N,D,T,N,T
chrX,53657924,53657924,C,A,P270959_F,HUWE1,Missense_Mutation,NM_031407,exon12,c.G825T,p.Q275H,SNP,SNVindel,exonic,HUWE1,NA,nonsynonymous SNV,HUWE1:NM_031407:exon12:c.G825T:p.Q275H,D,N,D,T,D,T
chrX,54824600,54824600,G,A,P270959_F,ITIH6,Missense_Mutation,NM_198510,exon1,c.C44T,p.T15I,SNP,SNVindel,exonic,ITIH6,NA,nonsynonymous SNV,ITIH6:NM_198510:exon1:c.C44T:p.T15I,T,U,N,T,N,T
chrX,54949559,54949559,C,A,P270959_F,TRO,Silent,NM_001039705,exon3,c.C594A,p.T198T,SNP,SNVindel,exonic,TRO,NA,synonymous SNV,"TRO:NM_001039705:exon3:c.C594A:p.T198T,TRO:NM_016157:exon3:c.C594A:p.T198T,TRO:NM_177556:exon3:c.C594A:p.T198T",NA,NA,NA,NA,NA,NA
chrX,55033537,55033537,A,G,P270959_F,APEX2,Missense_Mutation,NM_001271748,exon5,c.A713G,p.D238G,SNP,SNVindel,exonic,APEX2,NA,nonsynonymous SNV,"APEX2:NM_001271748:exon5:c.A713G:p.D238G,APEX2:NM_014481:exon6:c.A1226G:p.D409G",T,N,N,T,N,T
chrX,57475116,57475116,T,C,P270959_F,FAAH2,Missense_Mutation,NM_001353840,exon9,c.T1268C,p.V423A,SNP,SNVindel,exonic,FAAH2,NA,nonsynonymous SNV,"FAAH2:NM_001353840:exon9:c.T1268C:p.V423A,FAAH2:NM_001353841:exon9:c.T1178C:p.V393A,FAAH2:NM_174912:exon10:c.T1388C:p.V463A",T,U,N,T,N,T
chrX,66765332,66765332,A,G,P270959_F,AR,Missense_Mutation,NM_000044,exon1,c.A344G,p.Q115R,SNP,SNVindel,exonic,AR,NA,nonsynonymous SNV,"AR:NM_000044:exon1:c.A344G:p.Q115R,AR:NM_001348061:exon1:c.A344G:p.Q115R,AR:NM_001348063:exon1:c.A344G:p.Q115R,AR:NM_001348064:exon1:c.A344G:p.Q115R",D,N,N,D,N,D
chrX,69595196,69595196,C,T,P270959_F,KIF4A,Missense_Mutation,NM_012310,exon17,c.C1921T,p.R641W,SNP,SNVindel,exonic,KIF4A,NA,nonsynonymous SNV,KIF4A:NM_012310:exon17:c.C1921T:p.R641W,T,N,D,T,D,T
chrX,69649449,69649449,T,C,P270959_F,GDPD2,Missense_Mutation,NM_001171191,exon9,c.T806C,p.L269P,SNP,SNVindel,exonic,GDPD2,NA,nonsynonymous SNV,"GDPD2:NM_001171191:exon9:c.T806C:p.L269P,GDPD2:NM_001171193:exon10:c.T806C:p.L269P,GDPD2:NM_001171192:exon11:c.T1043C:p.L348P,GDPD2:NM_017711:exon11:c.T1043C:p.L348P",T,N,D,T,N,T
chrX,73524446,73524446,C,T,P270959_F,ZCCHC13,Silent,NM_203303,exon1,c.C345T,p.C115C,SNP,SNVindel,exonic,ZCCHC13,NA,synonymous SNV,ZCCHC13:NM_203303:exon1:c.C345T:p.C115C,NA,NA,NA,NA,NA,NA
chrX,100667926,100667926,T,C,P270959_F,HNRNPH2,Missense_Mutation,NM_001032393,exon2,c.T950C,p.V317A,SNP,SNVindel,exonic,HNRNPH2,NA,nonsynonymous SNV,"HNRNPH2:NM_001032393:exon2:c.T950C:p.V317A,HNRNPH2:NM_019597:exon2:c.T950C:p.V317A",D,D,D,T,D,T
chrX,101911444,101911444,C,G,P270959_F,GPRASP1,Missense_Mutation,NM_001099411,exon3,c.C2603G,p.T868S,SNP,SNVindel,exonic,GPRASP1,NA,nonsynonymous SNV,"GPRASP1:NM_001099411:exon3:c.C2603G:p.T868S,GPRASP1:NM_001099410:exon4:c.C2603G:p.T868S,GPRASP1:NM_014710:exon5:c.C2603G:p.T868S,GPRASP1:NM_001184727:exon6:c.C2603G:p.T868S",D,.,N,T,N,T
chrX,105161580,105161580,C,T,P270959_F,NRK,Missense_Mutation,NM_198465,exon16,c.C2428T,p.R810W,SNP,SNVindel,exonic,NRK,NA,nonsynonymous SNV,NRK:NM_198465:exon16:c.C2428T:p.R810W,D,N,N,T,N,T
chrX,107977304,107977304,A,G,P270959_F,IRS4,Silent,NM_003604,exon1,c.T2271C,p.S757S,SNP,SNVindel,exonic,IRS4,NA,synonymous SNV,IRS4:NM_003604:exon1:c.T2271C:p.S757S,NA,NA,NA,NA,NA,NA
chrX,107977339,107977339,T,C,P270959_F,IRS4,Missense_Mutation,NM_003604,exon1,c.A2236G,p.M746V,SNP,SNVindel,exonic,IRS4,NA,nonsynonymous SNV,IRS4:NM_003604:exon1:c.A2236G:p.M746V,D,D,D,T,N,T
chrX,107978572,107978572,C,T,P270959_F,IRS4,Missense_Mutation,NM_003604,exon1,c.G1003A,p.E335K,SNP,SNVindel,exonic,IRS4,NA,nonsynonymous SNV,IRS4:NM_003604:exon1:c.G1003A:p.E335K,D,N,D,T,D,T
chrX,117959892,117959892,C,T,P270959_F,ZCCHC12,Missense_Mutation,NM_001312891,exon3,c.C685T,p.R229W,SNP,SNVindel,exonic,ZCCHC12,NA,nonsynonymous SNV,"ZCCHC12:NM_001312891:exon3:c.C685T:p.R229W,ZCCHC12:NM_173798:exon4:c.C685T:p.R229W",T,.,N,T,N,T
chrX,118370383,118370383,C,T,P270959_F,PGRMC1,Silent,NM_001282621,exon1,c.C57T,p.G19G,SNP,SNVindel,exonic,PGRMC1,NA,synonymous SNV,"PGRMC1:NM_001282621:exon1:c.C57T:p.G19G,PGRMC1:NM_006667:exon1:c.C57T:p.G19G",NA,NA,NA,NA,NA,NA
chrX,123514499,123514499,G,A,P270959_F,TENM1,Missense_Mutation,NM_014253,exon31,c.C8065T,p.R2689W,SNP,SNVindel,exonic,TENM1,NA,nonsynonymous SNV,"TENM1:NM_014253:exon31:c.C8065T:p.R2689W,TENM1:NM_001163278:exon32:c.C8086T:p.R2696W,TENM1:NM_001163279:exon32:c.C8083T:p.R2695W",D,D,D,D,D,D
chrX,125685427,125685427,C,T,P270959_F,DCAF12L1,Missense_Mutation,NM_178470,exon1,c.G1165A,p.A389T,SNP,SNVindel,exonic,DCAF12L1,NA,nonsynonymous SNV,DCAF12L1:NM_178470:exon1:c.G1165A:p.A389T,T,N,N,T,N,T
chrX,129771276,129771276,A,G,P270959_F,ENOX2,Missense_Mutation,NM_001281736,exon10,c.T1238C,p.V413A,SNP,SNVindel,exonic,ENOX2,NA,nonsynonymous SNV,"ENOX2:NM_001281736:exon10:c.T1238C:p.V413A,ENOX2:NM_006375:exon11:c.T1238C:p.V413A,ENOX2:NM_182314:exon12:c.T1325C:p.V442A",T,N,N,T,N,T
chrX,130217891,130217891,G,A,P270959_F,ARHGAP36,Missense_Mutation,NM_001330651,exon3,c.G95A,p.R32H,SNP,SNVindel,exonic,ARHGAP36,NA,nonsynonymous SNV,"ARHGAP36:NM_001330651:exon3:c.G95A:p.R32H,ARHGAP36:NM_001282607:exon4:c.G467A:p.R156H,ARHGAP36:NM_144967:exon4:c.G503A:p.R168H",D,N,N,T,N,T
chrX,147062971,147062971,C,T,P270959_F,FMR1NB,Missense_Mutation,NM_152578,exon1,c.C49T,p.R17C,SNP,SNVindel,exonic,FMR1NB,NA,nonsynonymous SNV,FMR1NB:NM_152578:exon1:c.C49T:p.R17C,D,.,N,T,D,T
chrX,148797557,148797557,T,C,P270959_F,MAGEA11,Silent,NM_001011544,exon5,c.T324C,p.G108G,SNP,SNVindel,exonic,MAGEA11,NA,synonymous SNV,"MAGEA11:NM_001011544:exon5:c.T324C:p.G108G,MAGEA11:NM_005366:exon5:c.T411C:p.G137G",NA,NA,NA,NA,NA,NA
chrX,153041490,153041490,C,T,P270959_F,PLXNB3,Missense_Mutation,NM_005393,exon27,c.C4550T,p.T1517M,SNP,SNVindel,exonic,PLXNB3,NA,nonsynonymous SNV,"PLXNB3:NM_005393:exon27:c.C4550T:p.T1517M,PLXNB3:NM_001163257:exon28:c.C4619T:p.T1540M",D,N,D,T,D,T
chrX,153629242,153629242,T,C,P270959_F,RPL10,Missense_Mutation,NM_001256577,exon6,c.T529C,p.Y177H,SNP,SNVindel,exonic,RPL10,NA,nonsynonymous SNV,RPL10:NM_001256577:exon6:c.T529C:p.Y177H,D,.,N,.,N,T
chrX,153760934,153760934,C,T,P270959_F,G6PD,Missense_Mutation,NM_000402,exon10,c.G1225A,p.D409N,SNP,SNVindel,exonic,G6PD,NA,nonsynonymous SNV,"G6PD:NM_000402:exon10:c.G1225A:p.D409N,G6PD:NM_001042351:exon10:c.G1135A:p.D379N,G6PD:NM_001360016:exon10:c.G1135A:p.D379N",T,D,D,D,D,D
chrX,154020455,154020455,G,A,P270959_F,MPP1,Nonsense_Mutation,NM_001166461,exon2,c.C208T,p.R70X,SNP,SNVindel,exonic,MPP1,NA,stopgain,"MPP1:NM_001166461:exon2:c.C208T:p.R70X,MPP1:NM_002436:exon2:c.C208T:p.R70X,MPP1:NM_001166462:exon3:c.C118T:p.R40X",.,D,A,.,.,.
chr1,892651,892651,C,T,P270959_S,NOC2L,Missense_Mutation,NM_015658,exon3,c.G182A,p.R61Q,SNP,SNVindel,exonic,NOC2L,NA,nonsynonymous SNV,NOC2L:NM_015658:exon3:c.G182A:p.R61Q,T,N,N,T,N,T
chr1,1288693,1288693,C,T,P270959_S,MXRA8,Silent,NM_001282585,exon10,c.G1341A,p.P447P,SNP,SNVindel,exonic,MXRA8,NA,synonymous SNV,MXRA8:NM_001282585:exon10:c.G1341A:p.P447P,NA,NA,NA,NA,NA,NA
chr1,1459703,1459703,C,T,P270959_S,ATAD3A,Silent,NM_001170535,exon11,c.C1140T,p.D380D,SNP,SNVindel,exonic,ATAD3A,NA,synonymous SNV,"ATAD3A:NM_001170535:exon11:c.C1140T:p.D380D,ATAD3A:NM_001170536:exon11:c.C903T:p.D301D,ATAD3A:NM_018188:exon11:c.C1284T:p.D428D",NA,NA,NA,NA,NA,NA
chr1,1635750,1635750,C,T,P270959_S,CDK11A,Missense_Mutation,NM_001313896,exon15,c.G1607A,p.R536Q,SNP,SNVindel,exonic,CDK11A,NA,nonsynonymous SNV,"CDK11A:NM_001313896:exon15:c.G1607A:p.R536Q,CDK11A:NM_001313982:exon15:c.G1595A:p.R532Q,CDK11A:NM_024011:exon15:c.G1598A:p.R533Q,CDK11A:NM_033529:exon15:c.G1568A:p.R523Q",D,N,D,T,N,T
chr1,1638926,1638926,G,A,P270959_S,CDK11A,Silent,NM_001313896,exon11,c.C1176T,p.G392G,SNP,SNVindel,exonic,CDK11A,NA,synonymous SNV,"CDK11A:NM_001313896:exon11:c.C1176T:p.G392G,CDK11A:NM_001313982:exon11:c.C1164T:p.G388G,CDK11A:NM_024011:exon11:c.C1167T:p.G389G,CDK11A:NM_033529:exon11:c.C1137T:p.G379G",NA,NA,NA,NA,NA,NA
chr1,1857264,1857264,C,A,P270959_S,CFAP74,Missense_Mutation,NM_001304360,exon33,c.G4062T,p.M1354I,SNP,SNVindel,exonic,CFAP74,NA,nonsynonymous SNV,CFAP74:NM_001304360:exon33:c.G4062T:p.M1354I,.,D,.,.,.,T
chr1,6680153,6680153,C,T,P270959_S,PHF13,Silent,NM_153812,exon3,c.C432T,p.A144A,SNP,SNVindel,exonic,PHF13,NA,synonymous SNV,PHF13:NM_153812:exon3:c.C432T:p.A144A,NA,NA,NA,NA,NA,NA
chr1,6680228,6680228,G,A,P270959_S,PHF13,Silent,NM_153812,exon3,c.G507A,p.S169S,SNP,SNVindel,exonic,PHF13,NA,synonymous SNV,PHF13:NM_153812:exon3:c.G507A:p.S169S,NA,NA,NA,NA,NA,NA
chr1,7724467,7724467,C,T,P270959_S,CAMTA1,Silent,NM_001349608,exon8,c.C1770T,p.D590D,SNP,SNVindel,exonic,CAMTA1,NA,synonymous SNV,"CAMTA1:NM_001349608:exon8:c.C1770T:p.D590D,CAMTA1:NM_001349612:exon8:c.C1770T:p.D590D,CAMTA1:NM_001349609:exon9:c.C1860T:p.D620D,CAMTA1:NM_001349610:exon9:c.C1860T:p.D620D,CAMTA1:NM_015215:exon9:c.C1860T:p.D620D",NA,NA,NA,NA,NA,NA
chr1,8418817,8418817,C,T,P270959_S,RERE,Missense_Mutation,NM_001042682,exon10,c.G2116A,p.A706T,SNP,SNVindel,exonic,RERE,NA,nonsynonymous SNV,"RERE:NM_001042682:exon10:c.G2116A:p.A706T,RERE:NM_001042681:exon20:c.G3778A:p.A1260T,RERE:NM_012102:exon21:c.G3778A:p.A1260T",D,.,D,D,D,D
chr1,9322374,9322374,G,A,P270959_S,H6PD,Silent,NM_001282587,exon4,c.G1035A,p.T345T,SNP,SNVindel,exonic,H6PD,NA,synonymous SNV,"H6PD:NM_001282587:exon4:c.G1035A:p.T345T,H6PD:NM_004285:exon4:c.G1002A:p.T334T",NA,NA,NA,NA,NA,NA
chr1,9416289,9416289,C,T,P270959_S,SPSB1,Silent,NM_025106,exon2,c.C339T,p.A113A,SNP,SNVindel,exonic,SPSB1,NA,synonymous SNV,SPSB1:NM_025106:exon2:c.C339T:p.A113A,NA,NA,NA,NA,NA,NA
chr1,11106734,11106734,C,T,P270959_S,MASP2,Silent,NM_006610,exon3,c.G291A,p.T97T,SNP,SNVindel,exonic,MASP2,NA,synonymous SNV,"MASP2:NM_006610:exon3:c.G291A:p.T97T,MASP2:NM_139208:exon3:c.G291A:p.T97T",NA,NA,NA,NA,NA,NA
chr1,11562063,11562063,G,A,P270959_S,DISP3,Silent,NM_020780,exon2,c.G1014A,p.S338S,SNP,SNVindel,exonic,DISP3,NA,synonymous SNV,DISP3:NM_020780:exon2:c.G1014A:p.S338S,NA,NA,NA,NA,NA,NA
chr1,12023603,12023603,A,C,P270959_S,PLOD1,Missense_Mutation,NM_000302,exon11,c.A1112C,p.Q371P,SNP,SNVindel,exonic,PLOD1,NA,nonsynonymous SNV,"PLOD1:NM_000302:exon11:c.A1112C:p.Q371P,PLOD1:NM_001316320:exon12:c.A1253C:p.Q418P",T,N,D,D,D,D
chr1,12248871,12248871,G,A,P270959_S,TNFRSF1B,Missense_Mutation,NM_001066,exon2,c.G97A,p.A33T,SNP,SNVindel,exonic,TNFRSF1B,NA,nonsynonymous SNV,TNFRSF1B:NM_001066:exon2:c.G97A:p.A33T,T,N,N,D,N,T
chr1,12907873,12907873,C,A,P270959_S,HNRNPCL1,Silent,NM_001146181,exon1,c.G270T,p.V90V,SNP,SNVindel,exonic,HNRNPCL1;HNRNPCL3;HNRNPCL4,NA,synonymous SNV,"HNRNPCL3:NM_001146181:exon1:c.G270T:p.V90V,HNRNPCL4:NM_001302551:exon1:c.G270T:p.V90V,HNRNPCL1:NM_001013631:exon2:c.G270T:p.V90V",NA,NA,NA,NA,NA,NA
chr1,16271197,16271197,C,T,P270959_S,ZBTB17,Silent,NM_001242884,exon7,c.G819A,p.T273T,SNP,SNVindel,exonic,ZBTB17,NA,synonymous SNV,"ZBTB17:NM_001242884:exon7:c.G819A:p.T273T,ZBTB17:NM_001324137:exon7:c.G837A:p.T279T,ZBTB17:NM_001324138:exon7:c.G876A:p.T292T,ZBTB17:NM_001287603:exon8:c.G1065A:p.T355T,ZBTB17:NM_001287604:exon8:c.G837A:p.T279T,ZBTB17:NM_003443:exon8:c.G1065A:p.T355T",NA,NA,NA,NA,NA,NA
chr1,17296853,17296853,G,A,P270959_S,CROCC,Missense_Mutation,NM_014675,exon34,c.G5557A,p.A1853T,SNP,SNVindel,exonic,CROCC,NA,nonsynonymous SNV,CROCC:NM_014675:exon34:c.G5557A:p.A1853T,T,.,D,T,N,T
chr1,18704816,18704816,C,T,P270959_S,IGSF21,Missense_Mutation,NM_032880,exon10,c.C1400T,p.T467M,SNP,SNVindel,exonic,IGSF21,NA,nonsynonymous SNV,IGSF21:NM_032880:exon10:c.C1400T:p.T467M,D,D,D,T,N,T
chr1,22211126,22211126,C,T,P270959_S,HSPG2,Missense_Mutation,NM_001291860,exon13,c.G1552A,p.A518T,SNP,SNVindel,exonic,HSPG2,NA,nonsynonymous SNV,"HSPG2:NM_001291860:exon13:c.G1552A:p.A518T,HSPG2:NM_005529:exon13:c.G1549A:p.A517T",T,N,N,T,N,T
chr1,22923904,22923904,C,T,P270959_S,EPHA8,Missense_Mutation,NM_020526,exon10,c.C1865T,p.A622V,SNP,SNVindel,exonic,EPHA8,NA,nonsynonymous SNV,EPHA8:NM_020526:exon10:c.C1865T:p.A622V,D,D,D,T,D,T
chr1,23417741,23417741,C,T,P270959_S,LUZP1,Missense_Mutation,NM_001142546,exon3,c.G3014A,p.R1005H,SNP,SNVindel,exonic,LUZP1,NA,nonsynonymous SNV,"LUZP1:NM_001142546:exon3:c.G3014A:p.R1005H,LUZP1:NM_033631:exon4:c.G3014A:p.R1005H",T,N,N,T,N,T
chr1,24779986,24779986,C,T,P270959_S,NIPAL3,Missense_Mutation,NM_001322860,exon4,c.C146T,p.A49V,SNP,SNVindel,exonic,NIPAL3,NA,nonsynonymous SNV,"NIPAL3:NM_001322860:exon4:c.C146T:p.A49V,NIPAL3:NM_001322861:exon4:c.C146T:p.A49V,NIPAL3:NM_001322859:exon5:c.C146T:p.A49V,NIPAL3:NM_001322864:exon6:c.C626T:p.A209V,NIPAL3:NM_001322854:exon7:c.C629T:p.A210V,NIPAL3:NM_001322857:exon7:c.C629T:p.A210V,NIPAL3:NM_001322863:exon7:c.C383T:p.A128V,NIPAL3:NM_001322865:exon7:c.C629T:p.A210V,NIPAL3:NM_001322866:exon7:c.C602T:p.A201V,NIPAL3:NM_001322868:exon7:c.C629T:p.A210V,NIPAL3:NM_020448:exon7:c.C629T:p.A210V,NIPAL3:NM_001322855:exon8:c.C629T:p.A210V,NIPAL3:NM_001322856:exon8:c.C629T:p.A210V,NIPAL3:NM_001322858:exon8:c.C146T:p.A49V,NIPAL3:NM_001322862:exon8:c.C383T:p.A128V,NIPAL3:NM_001330409:exon8:c.C629T:p.A210V",D,D,D,D,D,D
chr1,25715474,25715474,C,T,P270959_S,RHCE,Missense_Mutation,NM_138617,exon4,c.G617A,p.C206Y,SNP,SNVindel,exonic,RHCE,NA,nonsynonymous SNV,"RHCE:NM_138617:exon4:c.G617A:p.C206Y,RHCE:NM_001330430:exon6:c.G932A:p.C311Y,RHCE:NM_020485:exon6:c.G932A:p.C311Y,RHCE:NM_138618:exon6:c.G932A:p.C311Y",T,N,N,T,D,T
chr1,25715490,25715490,T,C,P270959_S,RHCE,Missense_Mutation,NM_138617,exon4,c.A601G,p.I201V,SNP,SNVindel,exonic,RHCE,NA,nonsynonymous SNV,"RHCE:NM_138617:exon4:c.A601G:p.I201V,RHCE:NM_001330430:exon6:c.A916G:p.I306V,RHCE:NM_020485:exon6:c.A916G:p.I306V,RHCE:NM_138618:exon6:c.A916G:p.I306V",T,N,D,T,N,T
chr1,26104753,26104753,C,T,P270959_S,MAN1C1,Missense_Mutation,NM_001289010,exon9,c.C1415T,p.A472V,SNP,SNVindel,exonic,MAN1C1,NA,nonsynonymous SNV,"MAN1C1:NM_001289010:exon9:c.C1415T:p.A472V,MAN1C1:NM_020379:exon9:c.C1415T:p.A472V",T,N,N,T,N,T
chr1,27087555,27087555,G,A,P270959_S,ARID1A,Missense_Mutation,NM_006015,exon5,c.G2129A,p.R710H,SNP,SNVindel,exonic,ARID1A,NA,nonsynonymous SNV,"ARID1A:NM_006015:exon5:c.G2129A:p.R710H,ARID1A:NM_139135:exon5:c.G2129A:p.R710H",D,D,D,T,D,T
chr1,27089741,27089741,C,T,P270959_S,ARID1A,Silent,NM_006015,exon8,c.C2697T,p.V899V,SNP,SNVindel,exonic,ARID1A,NA,synonymous SNV,"ARID1A:NM_006015:exon8:c.C2697T:p.V899V,ARID1A:NM_139135:exon8:c.C2697T:p.V899V",NA,NA,NA,NA,NA,NA
chr1,27106999,27106999,G,A,P270959_S,ARID1A,Missense_Mutation,NM_006015,exon20,c.G6610A,p.A2204T,SNP,SNVindel,exonic,ARID1A,NA,nonsynonymous SNV,"ARID1A:NM_006015:exon20:c.G6610A:p.A2204T,ARID1A:NM_139135:exon20:c.G5959A:p.A1987T",T,D,D,T,N,T
chr1,27618738,27618738,C,T,P270959_S,WDTC1,Missense_Mutation,NM_001276252,exon7,c.C512T,p.S171L,SNP,SNVindel,exonic,WDTC1,NA,nonsynonymous SNV,"WDTC1:NM_001276252:exon7:c.C512T:p.S171L,WDTC1:NM_015023:exon7:c.C512T:p.S171L",D,D,D,T,N,T
chr1,27736596,27736596,G,A,P270959_S,WASF2,Missense_Mutation,NM_006990,exon8,c.C929T,p.P310L,SNP,SNVindel,exonic,WASF2,NA,nonsynonymous SNV,WASF2:NM_006990:exon8:c.C929T:p.P310L,.,N,D,.,.,T
chr1,32658016,32658016,G,A,P270959_S,TXLNA,Silent,NM_175852,exon7,c.G1068A,p.Q356Q,SNP,SNVindel,exonic,TXLNA,NA,synonymous SNV,TXLNA:NM_175852:exon7:c.G1068A:p.Q356Q,NA,NA,NA,NA,NA,NA
chr1,32745576,32745576,C,T,P270959_S,LCK,Silent,NM_001330468,exon10,c.C1023T,p.N341N,SNP,SNVindel,exonic,LCK,NA,synonymous SNV,"LCK:NM_001330468:exon10:c.C1023T:p.N341N,LCK:NM_001042771:exon11:c.C1176T:p.N392N,LCK:NM_005356:exon11:c.C1176T:p.N392N",NA,NA,NA,NA,NA,NA
chr1,33772375,33772375,G,A,P270959_S,A3GALT2,Missense_Mutation,NM_001080438,exon5,c.C1015T,p.R339W,SNP,SNVindel,exonic,A3GALT2,NA,nonsynonymous SNV,A3GALT2:NM_001080438:exon5:c.C1015T:p.R339W,.,.,.,.,.,.
chr1,33820732,33820732,G,A,P270959_S,PHC2,Missense_Mutation,NM_001330488,exon6,c.C1012T,p.R338W,SNP,SNVindel,exonic,PHC2,NA,nonsynonymous SNV,"PHC2:NM_001330488:exon6:c.C1012T:p.R338W,PHC2:NM_198040:exon7:c.C1099T:p.R367W",D,N,D,T,N,T
chr1,34209004,34209004,C,T,P270959_S,CSMD2,Missense_Mutation,NM_001281956,exon14,c.G2050A,p.V684I,SNP,SNVindel,exonic,CSMD2,NA,nonsynonymous SNV,"CSMD2:NM_001281956:exon14:c.G2050A:p.V684I,CSMD2:NM_052896:exon14:c.G1930A:p.V644I",T,N,N,T,N,T
chr1,36028231,36028231,T,A,P270959_S,NCDN,Missense_Mutation,NM_001014841,exon4,c.T1331A,p.L444H,SNP,SNVindel,exonic,NCDN,NA,nonsynonymous SNV,"NCDN:NM_001014841:exon4:c.T1331A:p.L444H,NCDN:NM_014284:exon4:c.T1382A:p.L461H,NCDN:NM_001014839:exon5:c.T1382A:p.L461H",D,D,D,T,D,T
chr1,36367134,36367134,G,A,P270959_S,AGO1,Silent,NM_001317123,exon9,c.G855A,p.S285S,SNP,SNVindel,exonic,AGO1,NA,synonymous SNV,"AGO1:NM_001317123:exon9:c.G855A:p.S285S,AGO1:NM_012199:exon9:c.G1080A:p.S360S",NA,NA,NA,NA,NA,NA
chr1,36553608,36553608,C,T,P270959_S,TEKT2,Missense_Mutation,NM_014466,exon10,c.C1114T,p.R372W,SNP,SNVindel,exonic,TEKT2,NA,nonsynonymous SNV,TEKT2:NM_014466:exon10:c.C1114T:p.R372W,D,N,D,T,D,T
chr1,36645559,36645559,C,T,P270959_S,MAP7D1,Silent,NM_001286365,exon15,c.C2292T,p.N764N,SNP,SNVindel,exonic,MAP7D1,NA,synonymous SNV,"MAP7D1:NM_001286365:exon15:c.C2292T:p.N764N,MAP7D1:NM_018067:exon16:c.C2406T:p.N802N,MAP7D1:NM_001286366:exon17:c.C2307T:p.N769N",NA,NA,NA,NA,NA,NA
chr1,38082233,38082233,C,T,P270959_S,RSPO1,Missense_Mutation,NM_001242908,exon4,c.G209A,p.R70H,SNP,SNVindel,exonic,RSPO1,NA,nonsynonymous SNV,"RSPO1:NM_001242908:exon4:c.G209A:p.R70H,RSPO1:NM_001242909:exon4:c.G128A:p.R43H,RSPO1:NM_001242910:exon4:c.G209A:p.R70H,RSPO1:NM_001038633:exon5:c.G209A:p.R70H",D,D,D,T,D,D
chr1,40916715,40916715,C,T,P270959_S,ZFP69B,Missense_Mutation,NM_023070,exon1,c.C82T,p.R28W,SNP,SNVindel,exonic,ZFP69B,NA,nonsynonymous SNV,"ZFP69B:NM_023070:exon1:c.C82T:p.R28W,ZFP69B:NM_001369565:exon2:c.C82T:p.R28W",T,.,N,T,N,T
chr1,43868953,43868953,G,A,P270959_S,SZT2,Missense_Mutation,NM_001365999,exon2,c.G133A,p.A45T,SNP,SNVindel,exonic,SZT2,NA,nonsynonymous SNV,"SZT2:NM_001365999:exon2:c.G133A:p.A45T,SZT2:NM_015284:exon2:c.G133A:p.A45T",T,.,D,.,N,T
chr1,43895470,43895470,C,T,P270959_S,SZT2,Silent,NM_015284,exon28,c.C4092T,p.C1364C,SNP,SNVindel,exonic,SZT2,NA,synonymous SNV,"SZT2:NM_015284:exon28:c.C4092T:p.C1364C,SZT2:NM_001365999:exon29:c.C4263T:p.C1421C",NA,NA,NA,NA,NA,NA
chr1,46165662,46165662,A,G,P270959_S,IPP,Silent,NM_005897,exon9,c.T1731C,p.C577C,SNP,SNVindel,exonic,IPP,NA,synonymous SNV,IPP:NM_005897:exon9:c.T1731C:p.C577C,NA,NA,NA,NA,NA,NA
chr1,46500262,46500262,C,T,P270959_S,MAST2,Silent,NM_001319245,exon29,c.C3918T,p.S1306S,SNP,SNVindel,exonic,MAST2,NA,synonymous SNV,"MAST2:NM_001319245:exon29:c.C3918T:p.S1306S,MAST2:NM_001324321:exon29:c.C3459T:p.S1153S,MAST2:NM_015112:exon29:c.C3921T:p.S1307S,MAST2:NM_001324320:exon30:c.C3942T:p.S1314S",NA,NA,NA,NA,NA,NA
chr1,47048959,47048959,C,A,P270959_S,MKNK1,Missense_Mutation,NM_001135553,exon3,c.G41T,p.R14M,SNP,SNVindel,exonic,MKNK1,NA,nonsynonymous SNV,"MKNK1:NM_001135553:exon3:c.G41T:p.R14M,MKNK1:NM_003684:exon3:c.G41T:p.R14M,MKNK1:NM_198973:exon3:c.G41T:p.R14M",D,D,D,T,N,T
chr1,51753908,51753908,C,T,P270959_S,TTC39A,Missense_Mutation,NM_001297667,exon6,c.G386A,p.R129Q,SNP,SNVindel,exonic,TTC39A,NA,nonsynonymous SNV,"TTC39A:NM_001297667:exon6:c.G386A:p.R129Q,TTC39A:NM_001297666:exon7:c.G587A:p.R196Q,TTC39A:NM_001080494:exon18:c.G1658A:p.R553Q,TTC39A:NM_001144832:exon18:c.G1667A:p.R556Q,TTC39A:NM_001297663:exon18:c.G1655A:p.R552Q,TTC39A:NM_001297664:exon18:c.G1574A:p.R525Q,TTC39A:NM_001297665:exon18:c.G1763A:p.R588Q",D,D,D,T,D,D
chr1,51771694,51771694,C,T,P270959_S,TTC39A,Silent,NM_001080494,exon7,c.G546A,p.P182P,SNP,SNVindel,exonic,TTC39A,NA,synonymous SNV,"TTC39A:NM_001080494:exon7:c.G546A:p.P182P,TTC39A:NM_001144832:exon7:c.G555A:p.P185P,TTC39A:NM_001297662:exon7:c.G648A:p.P216P,TTC39A:NM_001297663:exon7:c.G543A:p.P181P,TTC39A:NM_001297664:exon7:c.G462A:p.P154P,TTC39A:NM_001297665:exon7:c.G651A:p.P217P",NA,NA,NA,NA,NA,NA
chr1,51864819,51864819,G,T,P270959_S,EPS15,Missense_Mutation,NM_001159969,exon8,c.C995A,p.P332H,SNP,SNVindel,exonic,EPS15,NA,nonsynonymous SNV,"EPS15:NM_001159969:exon8:c.C995A:p.P332H,EPS15:NM_001981:exon20:c.C1937A:p.P646H",D,.,D,T,D,T
chr1,52275032,52275032,C,T,P270959_S,NRDC,Missense_Mutation,NM_001101662,exon17,c.G1945A,p.E649K,SNP,SNVindel,exonic,NRDC,NA,nonsynonymous SNV,"NRDC:NM_001101662:exon17:c.G1945A:p.E649K,NRDC:NM_001242361:exon19:c.G1753A:p.E585K,NRDC:NM_002525:exon19:c.G2149A:p.E717K",D,N,D,T,N,T
chr1,53153792,53153792,G,A,P270959_S,COA7,Missense_Mutation,NM_023077,exon3,c.C296T,p.A99V,SNP,SNVindel,exonic,COA7,NA,nonsynonymous SNV,COA7:NM_023077:exon3:c.C296T:p.A99V,T,D,D,T,D,T
chr1,55145076,55145076,G,A,P270959_S,MROH7,Silent,NM_001291332,exon10,c.G744A,p.S248S,SNP,SNVindel,exonic,MROH7,NA,synonymous SNV,"MROH7:NM_001291332:exon10:c.G744A:p.S248S,MROH7:NM_001039464:exon12:c.G2190A:p.S730S",NA,NA,NA,NA,NA,NA
chr1,63063399,63063399,A,G,P270959_S,ANGPTL3,Silent,NM_014495,exon1,c.A162G,p.G54G,SNP,SNVindel,exonic,ANGPTL3,NA,synonymous SNV,ANGPTL3:NM_014495:exon1:c.A162G:p.G54G,NA,NA,NA,NA,NA,NA
chr1,67205028,67205028,A,G,P270959_S,SGIP1,Missense_Mutation,NM_001308203,exon19,c.A1451G,p.Q484R,SNP,SNVindel,exonic,SGIP1,NA,nonsynonymous SNV,"SGIP1:NM_001308203:exon19:c.A1451G:p.Q484R,SGIP1:NM_001350218:exon20:c.A1469G:p.Q490R,SGIP1:NM_001350217:exon22:c.A2054G:p.Q685R,SGIP1:NM_032291:exon22:c.A2042G:p.Q681R",T,N,D,T,N,T
chr1,70501844,70501844,A,G,P270959_S,LRRC7,Missense_Mutation,NM_001350216,exon19,c.A2039G,p.E680G,SNP,SNVindel,exonic,LRRC7,NA,nonsynonymous SNV,"LRRC7:NM_001350216:exon19:c.A2039G:p.E680G,LRRC7:NM_001366838:exon19:c.A2036G:p.E679G,LRRC7:NM_001370785:exon19:c.A2036G:p.E679G,LRRC7:NM_001330635:exon20:c.A1937G:p.E646G,LRRC7:NM_001366839:exon20:c.A1937G:p.E646G,LRRC7:NM_001366841:exon20:c.A1937G:p.E646G",D,D,D,T,D,T
chr1,82408978,82408978,C,T,P270959_S,ADGRL2,Silent,NM_001297705,exon5,c.C723T,p.G241G,SNP,SNVindel,exonic,ADGRL2,NA,synonymous SNV,"ADGRL2:NM_001297705:exon5:c.C723T:p.G241G,ADGRL2:NM_001297706:exon5:c.C723T:p.G241G,ADGRL2:NM_001330645:exon5:c.C723T:p.G241G,ADGRL2:NM_001350699:exon5:c.C723T:p.G241G,ADGRL2:NM_001366009:exon5:c.C723T:p.G241G,ADGRL2:NM_012302:exon5:c.C723T:p.G241G,ADGRL2:NM_001297704:exon6:c.C723T:p.G241G,ADGRL2:NM_001350698:exon6:c.C735T:p.G245G,ADGRL2:NM_001366002:exon6:c.C723T:p.G241G,ADGRL2:NM_001366005:exon6:c.C735T:p.G245G,ADGRL2:NM_001366006:exon6:c.C735T:p.G245G,ADGRL2:NM_001366007:exon6:c.C735T:p.G245G,ADGRL2:NM_001366008:exon9:c.C735T:p.G245G,ADGRL2:NM_001366003:exon11:c.C735T:p.G245G,ADGRL2:NM_001366004:exon11:c.C735T:p.G245G",NA,NA,NA,NA,NA,NA
chr1,86048677,86048677,G,A,P270959_S,CCN1,Silent,NM_001554,exon5,c.G1098A,p.A366A,SNP,SNVindel,exonic,CCN1,NA,synonymous SNV,CCN1:NM_001554:exon5:c.G1098A:p.A366A,NA,NA,NA,NA,NA,NA
chr1,91404172,91404172,G,A,P270959_S,ZNF644,Silent,NM_201269,exon3,c.C2739T,p.N913N,SNP,SNVindel,exonic,ZNF644,NA,synonymous SNV,ZNF644:NM_201269:exon3:c.C2739T:p.N913N,NA,NA,NA,NA,NA,NA
chr1,91406281,91406281,A,G,P270959_S,ZNF644,Silent,NM_201269,exon3,c.T630C,p.S210S,SNP,SNVindel,exonic,ZNF644,NA,synonymous SNV,ZNF644:NM_201269:exon3:c.T630C:p.S210S,NA,NA,NA,NA,NA,NA
chr1,93645632,93645632,G,T,P270959_S,TMED5,Silent,NM_001167830,exon1,c.C168A,p.A56A,SNP,SNVindel,exonic,TMED5,NA,synonymous SNV,"TMED5:NM_001167830:exon1:c.C168A:p.A56A,TMED5:NM_016040:exon1:c.C168A:p.A56A",NA,NA,NA,NA,NA,NA
chr1,95609464,95609464,A,T,P270959_S,TLCD4,Missense_Mutation,NM_001199679,exon2,c.A7T,p.I3F,SNP,SNVindel,exonic,TLCD4;TLCD4-RWDD3,NA,nonsynonymous SNV,"TLCD4:NM_001199679:exon2:c.A7T:p.I3F,TLCD4-RWDD3:NM_001199691:exon2:c.A7T:p.I3F,TLCD4:NM_152487:exon2:c.A7T:p.I3F",T,N,.,.,N,T
chr1,100626105,100626105,G,A,P270959_S,LRRC39,Nonsense_Mutation,NM_001256387,exon3,c.C136T,p.R46X,SNP,SNVindel,exonic,LRRC39,NA,stopgain,"LRRC39:NM_001256387:exon3:c.C136T:p.R46X,LRRC39:NM_001256385:exon4:c.C136T:p.R46X,LRRC39:NM_001256386:exon4:c.C136T:p.R46X,LRRC39:NM_144620:exon4:c.C136T:p.R46X",.,D,A,.,.,.
chr1,100696384,100696384,C,T,P270959_S,DBT,Missense_Mutation,NM_001918,exon4,c.G338A,p.R113H,SNP,SNVindel,exonic,DBT,NA,nonsynonymous SNV,DBT:NM_001918:exon4:c.G338A:p.R113H,D,D,D,T,D,T
chr1,110170835,110170835,A,G,P270959_S,AMPD2,Missense_Mutation,NM_001308170,exon9,c.A1148G,p.E383G,SNP,SNVindel,exonic,AMPD2,NA,nonsynonymous SNV,"AMPD2:NM_001308170:exon9:c.A1148G:p.E383G,AMPD2:NM_001257361:exon10:c.A1019G:p.E340G,AMPD2:NM_004037:exon10:c.A1211G:p.E404G,AMPD2:NM_139156:exon10:c.A1130G:p.E377G,AMPD2:NM_001368809:exon11:c.A1211G:p.E404G",D,D,D,D,D,D
chr1,111962293,111962293,G,A,P270959_S,OVGP1,Missense_Mutation,NM_002557,exon9,c.C959T,p.P320L,SNP,SNVindel,exonic,OVGP1,NA,nonsynonymous SNV,OVGP1:NM_002557:exon9:c.C959T:p.P320L,D,D,D,T,D,T
chr1,112042842,112042842,A,G,P270959_S,ADORA3,Silent,NM_000677,exon2,c.T687C,p.A229A,SNP,SNVindel,exonic,ADORA3,NA,synonymous SNV,"ADORA3:NM_000677:exon2:c.T687C:p.A229A,ADORA3:NM_001302679:exon2:c.T252C:p.A84A",NA,NA,NA,NA,NA,NA
chr1,114201741,114201741,C,T,P270959_S,MAGI3,Missense_Mutation,NM_001142782,exon16,c.C2669T,p.P890L,SNP,SNVindel,exonic,MAGI3,NA,nonsynonymous SNV,"MAGI3:NM_001142782:exon16:c.C2669T:p.P890L,MAGI3:NM_152900:exon16:c.C2669T:p.P890L",D,D,D,T,D,T
chr1,115118306,115118306,G,A,P270959_S,BCAS2,Silent,NM_005872,exon4,c.C324T,p.N108N,SNP,SNVindel,exonic,BCAS2,NA,synonymous SNV,BCAS2:NM_005872:exon4:c.C324T:p.N108N,NA,NA,NA,NA,NA,NA
chr1,115130017,115130017,G,A,P270959_S,DENND2C,Missense_Mutation,NM_198459,exon17,c.C2575T,p.R859W,SNP,SNVindel,exonic,DENND2C,NA,nonsynonymous SNV,"DENND2C:NM_198459:exon17:c.C2575T:p.R859W,DENND2C:NM_001256404:exon20:c.C2746T:p.R916W",D,D,D,T,D,T
chr1,116675825,116675825,C,T,P270959_S,MAB21L3,Missense_Mutation,NM_152367,exon7,c.C928T,p.R310C,SNP,SNVindel,exonic,MAB21L3,NA,nonsynonymous SNV,MAB21L3:NM_152367:exon7:c.C928T:p.R310C,D,D,D,T,D,T
chr1,120378786,120378786,C,T,P270959_S,NBPF7,Silent,NM_001047980,exon7,c.G960A,p.P320P,SNP,SNVindel,exonic,NBPF7,NA,synonymous SNV,NBPF7:NM_001047980:exon7:c.G960A:p.P320P,NA,NA,NA,NA,NA,NA
chr1,146758149,146758149,C,T,P270959_S,CHD1L,Silent,NM_001256338,exon12,c.C1581T,p.A527A,SNP,SNVindel,exonic,CHD1L,NA,synonymous SNV,"CHD1L:NM_001256338:exon12:c.C1581T:p.A527A,CHD1L:NM_001256337:exon13:c.C1350T:p.A450A,CHD1L:NM_001348454:exon13:c.C1737T:p.A579A,CHD1L:NM_001348456:exon13:c.C1350T:p.A450A,CHD1L:NM_001348463:exon14:c.C1350T:p.A450A,CHD1L:NM_001348466:exon14:c.C1350T:p.A450A,CHD1L:NM_001348459:exon16:c.C1350T:p.A450A,CHD1L:NM_001348461:exon16:c.C1350T:p.A450A,CHD1L:NM_001348464:exon16:c.C1350T:p.A450A,CHD1L:NM_001256336:exon17:c.C1893T:p.A631A,CHD1L:NM_001348453:exon17:c.C1854T:p.A618A,CHD1L:NM_001348455:exon17:c.C1704T:p.A568A,CHD1L:NM_001348457:exon17:c.C1350T:p.A450A,CHD1L:NM_001348458:exon17:c.C1350T:p.A450A,CHD1L:NM_001348460:exon17:c.C1350T:p.A450A,CHD1L:NM_001348465:exon17:c.C1350T:p.A450A,CHD1L:NM_001348452:exon18:c.C1977T:p.A659A,CHD1L:NM_001348462:exon18:c.C1350T:p.A450A,CHD1L:NM_004284:exon18:c.C2193T:p.A731A,CHD1L:NM_024568:exon18:c.C1854T:p.A618A,CHD1L:NM_001348451:exon19:c.C1977T:p.A659A",NA,NA,NA,NA,NA,NA
chr1,151260174,151260174,G,A,P270959_S,ZNF687,Silent,NM_001304764,exon2,c.G1407A,p.S469S,SNP,SNVindel,exonic,ZNF687,NA,synonymous SNV,"ZNF687:NM_001304764:exon2:c.G1407A:p.S469S,ZNF687:NM_020832:exon2:c.G1407A:p.S469S,ZNF687:NM_001304763:exon3:c.G1407A:p.S469S",NA,NA,NA,NA,NA,NA
chr1,152323975,152323975,C,A,P270959_S,FLG2,Missense_Mutation,NM_001014342,exon3,c.G6287T,p.R2096M,SNP,SNVindel,exonic,FLG2,NA,nonsynonymous SNV,FLG2:NM_001014342:exon3:c.G6287T:p.R2096M,T,.,N,T,N,T
chr1,153914577,153914577,C,T,P270959_S,DENND4B,Missense_Mutation,NM_001367466,exon6,c.G856A,p.A286T,SNP,SNVindel,exonic,DENND4B,NA,nonsynonymous SNV,"DENND4B:NM_001367466:exon6:c.G856A:p.A286T,DENND4B:NM_014856:exon6:c.G823A:p.A275T",D,.,D,T,D,T
chr1,153932975,153932975,C,T,P270959_S,SLC39A1,Missense_Mutation,NM_001271957,exon4,c.G574A,p.V192M,SNP,SNVindel,exonic,SLC39A1,NA,nonsynonymous SNV,"SLC39A1:NM_001271957:exon4:c.G574A:p.V192M,SLC39A1:NM_001271958:exon4:c.G574A:p.V192M,SLC39A1:NM_001271959:exon4:c.G574A:p.V192M,SLC39A1:NM_001271960:exon5:c.G574A:p.V192M,SLC39A1:NM_014437:exon5:c.G574A:p.V192M",D,D,D,T,N,T
chr1,158059394,158059394,C,T,P270959_S,KIRREL1,Missense_Mutation,NM_001286349,exon7,c.C847T,p.R283W,SNP,SNVindel,exonic,KIRREL1,NA,nonsynonymous SNV,"KIRREL1:NM_001286349:exon7:c.C847T:p.R283W,KIRREL1:NM_018240:exon9:c.C1147T:p.R383W",D,N,D,T,D,T
chr1,158152887,158152887,G,A,P270959_S,CD1D,Missense_Mutation,NM_001766,exon5,c.G827A,p.G276D,SNP,SNVindel,exonic,CD1D,NA,nonsynonymous SNV,CD1D:NM_001766:exon5:c.G827A:p.G276D,T,N,N,T,D,T
chr1,159175867,159175867,C,T,P270959_S,ACKR1,Missense_Mutation,NM_001122951,exon2,c.C644T,p.A215V,SNP,SNVindel,exonic,ACKR1,NA,nonsynonymous SNV,"ACKR1:NM_001122951:exon2:c.C644T:p.A215V,ACKR1:NM_002036:exon2:c.C638T:p.A213V",T,U,N,T,N,T
chr1,160012317,160012317,C,T,P270959_S,KCNJ10,Silent,NM_002241,exon2,c.G6A,p.T2T,SNP,SNVindel,exonic,KCNJ10,NA,synonymous SNV,KCNJ10:NM_002241:exon2:c.G6A:p.T2T,NA,NA,NA,NA,NA,NA
chr1,161010422,161010422,C,T,P270959_S,USF1,Missense_Mutation,NM_001276373,exon9,c.G658A,p.V220M,SNP,SNVindel,exonic,USF1,NA,nonsynonymous SNV,"USF1:NM_001276373:exon9:c.G658A:p.V220M,USF1:NM_007122:exon9:c.G658A:p.V220M,USF1:NM_207005:exon9:c.G481A:p.V161M",T,D,D,D,N,D
chr1,161279682,161279682,G,A,P270959_S,MPZ,Missense_Mutation,NM_000530,exon1,c.C14T,p.A5V,SNP,SNVindel,exonic,MPZ,NA,nonsynonymous SNV,MPZ:NM_000530:exon1:c.C14T:p.A5V,T,N,N,D,N,D
chr1,169796918,169796918,C,T,P270959_S,C1orf112,Missense_Mutation,NM_001366773,exon10,c.C95T,p.S32F,SNP,SNVindel,exonic,C1orf112,NA,nonsynonymous SNV,"C1orf112:NM_001366773:exon10:c.C95T:p.S32F,C1orf112:NM_001320048:exon11:c.C659T:p.S220F,C1orf112:NM_001366768:exon11:c.C977T:p.S326F,C1orf112:NM_001366772:exon11:c.C95T:p.S32F,C1orf112:NM_001363739:exon12:c.C95T:p.S32F,C1orf112:NM_001366769:exon12:c.C1238T:p.S413F,C1orf112:NM_001366770:exon12:c.C1238T:p.S413F,C1orf112:NM_001320047:exon13:c.C1064T:p.S355F,C1orf112:NM_001366771:exon13:c.C95T:p.S32F",D,D,D,T,D,T
chr1,171310638,171310638,G,A,P270959_S,FMO4,Missense_Mutation,NM_002022,exon10,c.G1337A,p.S446N,SNP,SNVindel,exonic,FMO4,NA,nonsynonymous SNV,FMO4:NM_002022:exon10:c.G1337A:p.S446N,T,N,N,T,N,T
chr1,173772147,173772147,C,T,P270959_S,CENPL,Missense_Mutation,NM_001171182,exon4,c.G917A,p.R306H,SNP,SNVindel,exonic,CENPL,NA,nonsynonymous SNV,"CENPL:NM_001171182:exon4:c.G917A:p.R306H,CENPL:NM_033319:exon5:c.G917A:p.R306H,CENPL:NM_001127181:exon6:c.G1055A:p.R352H",D,D,D,T,N,T
chr1,175048612,175048612,C,T,P270959_S,TNN,Missense_Mutation,NM_022093,exon3,c.C553T,p.R185C,SNP,SNVindel,exonic,TNN,NA,nonsynonymous SNV,TNN:NM_022093:exon3:c.C553T:p.R185C,D,N,N,T,D,T
chr1,175348729,175348729,A,G,P270959_S,TNR,Missense_Mutation,NM_001328635,exon9,c.T923C,p.V308A,SNP,SNVindel,exonic,TNR,NA,nonsynonymous SNV,"TNR:NM_001328635:exon9:c.T923C:p.V308A,TNR:NM_003285:exon9:c.T1922C:p.V641A",D,N,D,T,D,T
chr1,176681009,176681009,T,C,P270959_S,PAPPA2,Silent,NM_020318,exon12,c.T3690C,p.R1230R,SNP,SNVindel,exonic,PAPPA2,NA,synonymous SNV,PAPPA2:NM_020318:exon12:c.T3690C:p.R1230R,NA,NA,NA,NA,NA,NA
chr1,179057167,179057167,G,A,P270959_S,TOR3A,Missense_Mutation,NM_022371,exon4,c.G761A,p.R254H,SNP,SNVindel,exonic,TOR3A,NA,nonsynonymous SNV,TOR3A:NM_022371:exon4:c.G761A:p.R254H,T,N,N,T,N,T
chr1,179989455,179989455,C,G,P270959_S,CEP350,Missense_Mutation,NM_014810,exon12,c.C2546G,p.A849G,SNP,SNVindel,exonic,CEP350,NA,nonsynonymous SNV,CEP350:NM_014810:exon12:c.C2546G:p.A849G,T,D,D,T,N,T
chr1,181680149,181680149,G,A,P270959_S,CACNA1E,Missense_Mutation,NM_000721,exon8,c.G1115A,p.R372H,SNP,SNVindel,exonic,CACNA1E,NA,nonsynonymous SNV,"CACNA1E:NM_000721:exon8:c.G1115A:p.R372H,CACNA1E:NM_001205293:exon8:c.G1115A:p.R372H,CACNA1E:NM_001205294:exon8:c.G1115A:p.R372H",D,N,D,D,D,D
chr1,182353640,182353640,C,T,P270959_S,GLUL,Missense_Mutation,NM_001033044,exon7,c.G1022A,p.R341H,SNP,SNVindel,exonic,GLUL,NA,nonsynonymous SNV,"GLUL:NM_001033044:exon7:c.G1022A:p.R341H,GLUL:NM_001033056:exon7:c.G1022A:p.R341H,GLUL:NM_002065:exon8:c.G1022A:p.R341H",D,N,D,D,D,D
chr1,182353844,182353844,G,A,P270959_S,GLUL,Missense_Mutation,NM_001033044,exon7,c.C818T,p.A273V,SNP,SNVindel,exonic,GLUL,NA,nonsynonymous SNV,"GLUL:NM_001033044:exon7:c.C818T:p.A273V,GLUL:NM_001033056:exon7:c.C818T:p.A273V,GLUL:NM_002065:exon8:c.C818T:p.A273V",D,N,D,D,D,D
chr1,182922200,182922200,G,A,P270959_S,SHCBP1L,Silent,NM_030933,exon1,c.C69T,p.G23G,SNP,SNVindel,exonic,SHCBP1L,NA,synonymous SNV,SHCBP1L:NM_030933:exon1:c.C69T:p.G23G,NA,NA,NA,NA,NA,NA
chr1,193150553,193150553,T,A,P270959_S,B3GALT2,Missense_Mutation,NM_003783,exon2,c.A140T,p.D47V,SNP,SNVindel,exonic,B3GALT2,NA,nonsynonymous SNV,B3GALT2:NM_003783:exon2:c.A140T:p.D47V,T,N,D,T,N,T
chr1,198248097,198248097,T,C,P270959_S,NEK7,Silent,NM_133494,exon7,c.T495C,p.A165A,SNP,SNVindel,exonic,NEK7,NA,synonymous SNV,NEK7:NM_133494:exon7:c.T495C:p.A165A,NA,NA,NA,NA,NA,NA
chr1,201932860,201932860,C,A,P270959_S,TIMM17A,Missense_Mutation,NM_006335,exon4,c.C307A,p.L103M,SNP,SNVindel,exonic,TIMM17A,NA,nonsynonymous SNV,TIMM17A:NM_006335:exon4:c.C307A:p.L103M,D,D,D,T,N,T
chr1,205498663,205498663,G,A,P270959_S,CDK18,Missense_Mutation,NM_002596,exon13,c.G1193A,p.G398D,SNP,SNVindel,exonic,CDK18,NA,nonsynonymous SNV,"CDK18:NM_002596:exon13:c.G1193A:p.G398D,CDK18:NM_212502:exon13:c.G1193A:p.G398D,CDK18:NM_212503:exon13:c.G1283A:p.G428D",D,D,D,T,D,D
chr1,208215569,208215569,G,T,P270959_S,PLXNA2,Missense_Mutation,NM_025179,exon22,c.C4160A,p.A1387D,SNP,SNVindel,exonic,PLXNA2,NA,nonsynonymous SNV,PLXNA2:NM_025179:exon22:c.C4160A:p.A1387D,D,D,D,T,D,T
chr1,209791834,209791834,G,A,P270959_S,LAMB3,Missense_Mutation,NM_001017402,exon18,c.C2872T,p.R958C,SNP,SNVindel,exonic,LAMB3,NA,nonsynonymous SNV,"LAMB3:NM_001017402:exon18:c.C2872T:p.R958C,LAMB3:NM_000228:exon19:c.C2872T:p.R958C,LAMB3:NM_001127641:exon19:c.C2872T:p.R958C",D,N,N,T,D,T
chr1,220808856,220808856,C,T,P270959_S,MARK1,Missense_Mutation,NM_001286128,exon11,c.C1195T,p.R399C,SNP,SNVindel,exonic,MARK1,NA,nonsynonymous SNV,"MARK1:NM_001286128:exon11:c.C1195T:p.R399C,MARK1:NM_001286124:exon12:c.C1261T:p.R421C,MARK1:NM_001286126:exon12:c.C1261T:p.R421C,MARK1:NM_018650:exon12:c.C1261T:p.R421C",D,D,D,T,D,D
chr1,226127553,226127553,C,T,P270959_S,LEFTY2,Missense_Mutation,NM_003240,exon2,c.G400A,p.G134R,SNP,SNVindel,exonic,LEFTY2,NA,nonsynonymous SNV,"LEFTY2:NM_003240:exon2:c.G400A:p.G134R,LEFTY2:NM_001172425:exon3:c.G298A:p.G100R",T,N,N,T,N,T
chr1,228112049,228112049,G,A,P270959_S,WNT9A,Silent,NM_003395,exon3,c.C405T,p.H135H,SNP,SNVindel,exonic,WNT9A,NA,synonymous SNV,WNT9A:NM_003395:exon3:c.C405T:p.H135H,NA,NA,NA,NA,NA,NA
chr1,228404898,228404898,G,A,P270959_S,OBSCN,Silent,NM_001098623,exon8,c.G2562A,p.R854R,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon8:c.G2562A:p.R854R,OBSCN:NM_001271223:exon8:c.G2562A:p.R854R,OBSCN:NM_052843:exon8:c.G2562A:p.R854R",NA,NA,NA,NA,NA,NA
chr1,228475531,228475531,T,C,P270959_S,OBSCN,Silent,NM_001098623,exon36,c.T9681C,p.G3227G,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon36:c.T9681C:p.G3227G,OBSCN:NM_052843:exon36:c.T9681C:p.G3227G,OBSCN:NM_001271223:exon41:c.T10968C:p.G3656G",NA,NA,NA,NA,NA,NA
chr1,228556527,228556527,C,T,P270959_S,OBSCN,Silent,NM_001098623,exon89,c.C19872T,p.Y6624Y,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon89:c.C19872T:p.Y6624Y,OBSCN:NM_001271223:exon100:c.C22743T:p.Y7581Y",NA,NA,NA,NA,NA,NA
chr1,229772285,229772285,C,T,P270959_S,URB2,Missense_Mutation,NM_001314021,exon4,c.C1925T,p.S642L,SNP,SNVindel,exonic,URB2,NA,nonsynonymous SNV,"URB2:NM_001314021:exon4:c.C1925T:p.S642L,URB2:NM_014777:exon4:c.C1925T:p.S642L",T,N,N,T,N,T
chr1,237880534,237880534,C,T,P270959_S,RYR2,Missense_Mutation,NM_001035,exon72,c.C10360T,p.R3454C,SNP,SNVindel,exonic,RYR2,NA,nonsynonymous SNV,RYR2:NM_001035:exon72:c.C10360T:p.R3454C,D,D,D,D,D,D
chr2,17836517,17836517,C,T,P270959_S,VSNL1,Silent,NM_001366805,exon3,c.C216T,p.G72G,SNP,SNVindel,exonic,VSNL1,NA,synonymous SNV,"VSNL1:NM_001366805:exon3:c.C216T:p.G72G,VSNL1:NM_001366803:exon4:c.C432T:p.G144G,VSNL1:NM_001366806:exon4:c.C432T:p.G144G,VSNL1:NM_003385:exon4:c.C432T:p.G144G",NA,NA,NA,NA,NA,NA
chr2,21230763,21230763,C,T,P270959_S,APOB,Missense_Mutation,NM_000384,exon26,c.G8977A,p.D2993N,SNP,SNVindel,exonic,APOB,NA,nonsynonymous SNV,APOB:NM_000384:exon26:c.G8977A:p.D2993N,D,N,N,T,N,T
chr2,21233996,21233996,C,A,P270959_S,APOB,Missense_Mutation,NM_000384,exon26,c.G5744T,p.G1915V,SNP,SNVindel,exonic,APOB,NA,nonsynonymous SNV,APOB:NM_000384:exon26:c.G5744T:p.G1915V,D,D,D,T,D,T
chr2,24248321,24248321,G,A,P270959_S,MFSD2B,Missense_Mutation,NM_001346880,exon14,c.G1510A,p.A504T,SNP,SNVindel,exonic,MFSD2B,NA,nonsynonymous SNV,MFSD2B:NM_001346880:exon14:c.G1510A:p.A504T,D,U,N,T,N,T
chr2,26407123,26407123,G,A,P270959_S,GAREM2,Missense_Mutation,NM_001191033,exon3,c.G175A,p.E59K,SNP,SNVindel,exonic,GAREM2,NA,nonsynonymous SNV,"GAREM2:NM_001191033:exon3:c.G175A:p.E59K,GAREM2:NM_001168241:exon4:c.G406A:p.E136K",D,D,D,T,D,T
chr2,27315223,27315223,G,A,P270959_S,KHK,Missense_Mutation,NM_000221,exon2,c.G116A,p.R39H,SNP,SNVindel,exonic,KHK,NA,nonsynonymous SNV,"KHK:NM_000221:exon2:c.G116A:p.R39H,KHK:NM_006488:exon2:c.G116A:p.R39H",D,D,D,T,D,D
chr2,29462669,29462669,C,T,P270959_S,ALK,Silent,NM_004304,exon13,c.G2232A,p.G744G,SNP,SNVindel,exonic,ALK,NA,synonymous SNV,ALK:NM_004304:exon13:c.G2232A:p.G744G,NA,NA,NA,NA,NA,NA
chr2,32664597,32664597,G,A,P270959_S,BIRC6,Missense_Mutation,NM_016252,exon16,c.G3653A,p.R1218H,SNP,SNVindel,exonic,BIRC6,NA,nonsynonymous SNV,BIRC6:NM_016252:exon16:c.G3653A:p.R1218H,D,D,D,T,D,D
chr2,36740858,36740858,C,T,P270959_S,CRIM1,Missense_Mutation,NM_016441,exon11,c.C1940T,p.A647V,SNP,SNVindel,exonic,CRIM1,NA,nonsynonymous SNV,CRIM1:NM_016441:exon11:c.C1940T:p.A647V,T,N,N,T,N,T
chr2,70780882,70780882,T,C,P270959_S,TGFA,Silent,NM_001099691,exon1,c.A18G,p.G6G,SNP,SNVindel,exonic,TGFA,NA,synonymous SNV,"TGFA:NM_001099691:exon1:c.A18G:p.G6G,TGFA:NM_003236:exon1:c.A18G:p.G6G",NA,NA,NA,NA,NA,NA
chr2,71351364,71351364,G,T,P270959_S,MCEE,Missense_Mutation,NM_032601,exon2,c.C350A,p.A117D,SNP,SNVindel,exonic,MCEE,NA,nonsynonymous SNV,MCEE:NM_032601:exon2:c.C350A:p.A117D,T,N,D,T,N,T
chr2,74042530,74042530,G,A,P270959_S,C2orf78,Missense_Mutation,NM_001080474,exon3,c.G1180A,p.D394N,SNP,SNVindel,exonic,C2orf78,NA,nonsynonymous SNV,"C2orf78:NM_001080474:exon3:c.G1180A:p.D394N,C2orf78:NM_001353344:exon3:c.G1180A:p.D394N",D,N,D,.,D,D
chr2,74779590,74779590,C,T,P270959_S,LOXL3,Missense_Mutation,NM_001289164,exon2,c.G172A,p.V58M,SNP,SNVindel,exonic,LOXL3,NA,nonsynonymous SNV,"LOXL3:NM_001289164:exon2:c.G172A:p.V58M,LOXL3:NM_032603:exon2:c.G172A:p.V58M",D,D,D,T,N,D
chr2,75891812,75891812,A,T,P270959_S,GCFC2,Missense_Mutation,NM_001201334,exon17,c.T1819A,p.S607T,SNP,SNVindel,exonic,GCFC2,NA,nonsynonymous SNV,"GCFC2:NM_001201334:exon17:c.T1819A:p.S607T,GCFC2:NM_003203:exon17:c.T2326A:p.S776T",T,N,N,T,N,T
chr2,84928371,84928371,C,T,P270959_S,DNAH6,Missense_Mutation,NM_001370,exon49,c.C7969T,p.R2657C,SNP,SNVindel,exonic,DNAH6,NA,nonsynonymous SNV,DNAH6:NM_001370:exon49:c.C7969T:p.R2657C,D,.,D,T,D,D
chr2,88409984,88409984,G,A,P270959_S,SMYD1,Missense_Mutation,NM_001330364,exon9,c.G1387A,p.E463K,SNP,SNVindel,exonic,SMYD1,NA,nonsynonymous SNV,"SMYD1:NM_001330364:exon9:c.G1387A:p.E463K,SMYD1:NM_198274:exon10:c.G1426A:p.E476K",D,D,D,T,N,T
chr2,88482262,88482262,G,A,P270959_S,THNSL2,Missense_Mutation,NM_001244678,exon4,c.G373A,p.V125M,SNP,SNVindel,exonic,THNSL2,NA,nonsynonymous SNV,"THNSL2:NM_001244678:exon4:c.G373A:p.V125M,THNSL2:NM_018271:exon5:c.G847A:p.V283M,THNSL2:NM_001244676:exon6:c.G847A:p.V283M",D,N,N,D,N,D
chr2,96970563,96970563,C,T,P270959_S,SNRNP200,Missense_Mutation,NM_014014,exon2,c.G89A,p.R30Q,SNP,SNVindel,exonic,SNRNP200,NA,nonsynonymous SNV,SNRNP200:NM_014014:exon2:c.G89A:p.R30Q,D,D,D,T,N,T
chr2,97278652,97278652,G,A,P270959_S,KANSL3,Missense_Mutation,NM_001349262,exon5,c.C131T,p.P44L,SNP,SNVindel,exonic,KANSL3,NA,nonsynonymous SNV,"KANSL3:NM_001349262:exon5:c.C131T:p.P44L,KANSL3:NM_001349260:exon6:c.C197T:p.P66L,KANSL3:NM_001115016:exon7:c.C815T:p.P272L,KANSL3:NM_001349256:exon7:c.C815T:p.P272L,KANSL3:NM_001349257:exon7:c.C815T:p.P272L,KANSL3:NM_001349258:exon7:c.C815T:p.P272L,KANSL3:NM_001349259:exon7:c.C554T:p.P185L,KANSL3:NM_001349261:exon7:c.C131T:p.P44L",D,D,D,T,D,T
chr2,103121794,103121794,C,T,P270959_S,SLC9A4,Silent,NM_001011552,exon4,c.C1062T,p.F354F,SNP,SNVindel,exonic,SLC9A4,NA,synonymous SNV,SLC9A4:NM_001011552:exon4:c.C1062T:p.F354F,NA,NA,NA,NA,NA,NA
chr2,105859267,105859267,G,A,P270959_S,GPR45,Missense_Mutation,NM_007227,exon1,c.G952A,p.V318I,SNP,SNVindel,exonic,GPR45,NA,nonsynonymous SNV,GPR45:NM_007227:exon1:c.G952A:p.V318I,T,D,D,T,N,T
chr2,106002866,106002866,G,A,P270959_S,FHL2,Silent,NM_001318894,exon2,c.C108T,p.F36F,SNP,SNVindel,exonic,FHL2,NA,synonymous SNV,"FHL2:NM_001318894:exon2:c.C108T:p.F36F,FHL2:NM_001318896:exon2:c.C108T:p.F36F,FHL2:NM_001450:exon2:c.C108T:p.F36F,FHL2:NM_201557:exon2:c.C108T:p.F36F,FHL2:NM_001039492:exon3:c.C108T:p.F36F,FHL2:NM_001318895:exon3:c.C108T:p.F36F,FHL2:NM_201555:exon4:c.C108T:p.F36F",NA,NA,NA,NA,NA,NA
chr2,106782522,106782522,C,T,P270959_S,UXS1,Missense_Mutation,NM_001253875,exon2,c.G112A,p.V38I,SNP,SNVindel,exonic,UXS1,NA,nonsynonymous SNV,"UXS1:NM_001253875:exon2:c.G112A:p.V38I,UXS1:NM_025076:exon2:c.G112A:p.V38I",T,N,D,D,N,T
chr2,111907683,111907683,C,T,P270959_S,BCL2L11,Missense_Mutation,NM_001204106,exon3,c.C187T,p.R63W,SNP,SNVindel,exonic,BCL2L11,NA,nonsynonymous SNV,"BCL2L11:NM_001204106:exon3:c.C187T:p.R63W,BCL2L11:NM_001204107:exon3:c.C187T:p.R63W,BCL2L11:NM_001204108:exon3:c.C457T:p.R153W,BCL2L11:NM_001204110:exon3:c.C187T:p.R63W,BCL2L11:NM_138621:exon3:c.C457T:p.R153W,BCL2L11:NM_138622:exon3:c.C457T:p.R153W,BCL2L11:NM_207003:exon3:c.C187T:p.R63W,BCL2L11:NM_006538:exon4:c.C277T:p.R93W,BCL2L11:NM_138623:exon4:c.C277T:p.R93W",D,D,D,.,D,T
chr2,120918529,120918529,C,T,P270959_S,EPB41L5,Silent,NM_001184937,exon21,c.C1866T,p.A622A,SNP,SNVindel,exonic,EPB41L5,NA,synonymous SNV,"EPB41L5:NM_001184937:exon21:c.C1866T:p.A622A,EPB41L5:NM_001330310:exon21:c.C1866T:p.A622A,EPB41L5:NM_020909:exon21:c.C1866T:p.A622A",NA,NA,NA,NA,NA,NA
chr2,128412405,128412405,G,A,P270959_S,LIMS2,Silent,NM_001161403,exon3,c.C237T,p.C79C,SNP,SNVindel,exonic,LIMS2,NA,synonymous SNV,"LIMS2:NM_001161403:exon3:c.C237T:p.C79C,LIMS2:NM_001161404:exon3:c.C222T:p.C74C,LIMS2:NM_017980:exon3:c.C309T:p.C103C,LIMS2:NM_001136037:exon4:c.C303T:p.C101C",NA,NA,NA,NA,NA,NA
chr2,128886632,128886632,G,A,P270959_S,UGGT1,Missense_Mutation,NM_020120,exon13,c.G1256A,p.R419Q,SNP,SNVindel,exonic,UGGT1,NA,nonsynonymous SNV,UGGT1:NM_020120:exon13:c.G1256A:p.R419Q,D,D,D,T,N,T
chr2,131116539,131116539,G,A,P270959_S,PTPN18,Missense_Mutation,NM_014369,exon2,c.G193A,p.V65M,SNP,SNVindel,exonic,PTPN18,NA,nonsynonymous SNV,PTPN18:NM_014369:exon2:c.G193A:p.V65M,D,N,D,D,N,D
chr2,131414372,131414372,G,A,P270959_S,POTEJ,Missense_Mutation,NM_001277083,exon15,c.G2039A,p.C680Y,SNP,SNVindel,exonic,POTEJ,NA,nonsynonymous SNV,POTEJ:NM_001277083:exon15:c.G2039A:p.C680Y,D,.,N,D,D,D
chr2,132021811,132021811,C,T,P270959_S,POTEE,Missense_Mutation,NM_001083538,exon15,c.C2783T,p.A928V,SNP,SNVindel,exonic,POTEE,NA,nonsynonymous SNV,POTEE:NM_001083538:exon15:c.C2783T:p.A928V,D,.,D,D,N,D
chr2,132021908,132021908,G,A,P270959_S,POTEE,Silent,NM_001083538,exon15,c.G2880A,p.A960A,SNP,SNVindel,exonic,POTEE,NA,synonymous SNV,POTEE:NM_001083538:exon15:c.G2880A:p.A960A,NA,NA,NA,NA,NA,NA
chr2,135215721,135215721,C,T,P270959_S,TMEM163,Missense_Mutation,NM_030923,exon7,c.G691A,p.V231M,SNP,SNVindel,exonic,TMEM163,NA,nonsynonymous SNV,TMEM163:NM_030923:exon7:c.G691A:p.V231M,D,D,D,T,N,T
chr2,152226603,152226603,A,G,P270959_S,TNFAIP6,Missense_Mutation,NM_007115,exon4,c.A464G,p.Y155C,SNP,SNVindel,exonic,TNFAIP6,NA,nonsynonymous SNV,TNFAIP6:NM_007115:exon4:c.A464G:p.Y155C,D,D,D,T,N,D
chr2,157185874,157185874,G,A,P270959_S,NR4A2,Silent,NM_006186,exon3,c.C825T,p.Y275Y,SNP,SNVindel,exonic,NR4A2,NA,synonymous SNV,"NR4A2:NM_006186:exon3:c.C825T:p.Y275Y,NR4A2:NM_173173:exon3:c.C636T:p.Y212Y",NA,NA,NA,NA,NA,NA
chr2,158626898,158626898,T,C,P270959_S,ACVR1,Missense_Mutation,NM_001105,exon7,c.A772G,p.R258G,SNP,SNVindel,exonic,ACVR1,NA,nonsynonymous SNV,"ACVR1:NM_001105:exon7:c.A772G:p.R258G,ACVR1:NM_001111067:exon7:c.A772G:p.R258G,ACVR1:NM_001347663:exon7:c.A772G:p.R258G,ACVR1:NM_001347664:exon8:c.A772G:p.R258G,ACVR1:NM_001347665:exon8:c.A772G:p.R258G,ACVR1:NM_001347666:exon8:c.A772G:p.R258G,ACVR1:NM_001347667:exon8:c.A772G:p.R258G",D,D,D,D,D,D
chr2,159481794,159481794,G,A,P270959_S,PKP4,Silent,NM_001005476,exon7,c.G1008A,p.S336S,SNP,SNVindel,exonic,PKP4,NA,synonymous SNV,"PKP4:NM_001005476:exon7:c.G1008A:p.S336S,PKP4:NM_001304969:exon7:c.G1008A:p.S336S,PKP4:NM_001304971:exon7:c.G1008A:p.S336S,PKP4:NM_003628:exon7:c.G1008A:p.S336S",NA,NA,NA,NA,NA,NA
chr2,168106126,168106126,A,C,P270959_S,XIRP2,Missense_Mutation,NM_001199144,exon7,c.A7558C,p.T2520P,SNP,SNVindel,exonic,XIRP2,NA,nonsynonymous SNV,"XIRP2:NM_001199144:exon7:c.A7558C:p.T2520P,XIRP2:NM_152381:exon9:c.A8224C:p.T2742P",D,N,N,T,N,T
chr2,170417137,170417137,C,T,P270959_S,FASTKD1,Missense_Mutation,NM_001322048,exon4,c.G662A,p.R221H,SNP,SNVindel,exonic,FASTKD1,NA,nonsynonymous SNV,"FASTKD1:NM_001322048:exon4:c.G662A:p.R221H,FASTKD1:NM_001322049:exon4:c.G662A:p.R221H,FASTKD1:NM_001281476:exon5:c.G731A:p.R244H,FASTKD1:NM_001322046:exon5:c.G731A:p.R244H,FASTKD1:NM_024622:exon5:c.G731A:p.R244H",T,N,N,T,N,T
chr2,174228081,174228081,G,A,P270959_S,CDCA7,Missense_Mutation,NM_145810,exon3,c.G275A,p.R92H,SNP,SNVindel,exonic,CDCA7,NA,nonsynonymous SNV,"CDCA7:NM_145810:exon3:c.G275A:p.R92H,CDCA7:NM_031942:exon4:c.G512A:p.R171H",D,N,N,T,N,T
chr2,178096160,178096160,T,G,P270959_S,NFE2L2,Missense_Mutation,NM_001313902,exon4,c.A1081C,p.N361H,SNP,SNVindel,exonic,NFE2L2,NA,nonsynonymous SNV,"NFE2L2:NM_001313902:exon4:c.A1081C:p.N361H,NFE2L2:NM_001145412:exon5:c.A1123C:p.N375H,NFE2L2:NM_001145413:exon5:c.A1102C:p.N368H,NFE2L2:NM_001313900:exon5:c.A1123C:p.N375H,NFE2L2:NM_001313901:exon5:c.A1123C:p.N375H,NFE2L2:NM_001313903:exon5:c.A952C:p.N318H,NFE2L2:NM_001313904:exon5:c.A871C:p.N291H,NFE2L2:NM_006164:exon5:c.A1171C:p.N391H",D,N,N,T,N,T
chr2,179478573,179478573,G,A,P270959_S,TTN,Silent,NM_003319,exon91,c.C22242T,p.G7414G,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon91:c.C22242T:p.G7414G,TTN:NM_133432:exon92:c.C22617T:p.G7539G,TTN:NM_133437:exon92:c.C22818T:p.G7606G,TTN:NM_133378:exon212:c.C41733T:p.G13911G,TTN:NM_001256850:exon213:c.C44514T:p.G14838G,TTN:NM_001267550:exon263:c.C49437T:p.G16479G",NA,NA,NA,NA,NA,NA
chr2,183621194,183621194,C,T,P270959_S,DNAJC10,Missense_Mutation,NM_001271581,exon17,c.C1669T,p.R557W,SNP,SNVindel,exonic,DNAJC10,NA,nonsynonymous SNV,"DNAJC10:NM_001271581:exon17:c.C1669T:p.R557W,DNAJC10:NM_018981:exon18:c.C1807T:p.R603W",D,D,D,T,D,T
chr2,186666592,186666592,T,C,P270959_S,FSIP2,Missense_Mutation,NM_173651,exon17,c.T12559C,p.S4187P,SNP,SNVindel,exonic,FSIP2,NA,nonsynonymous SNV,FSIP2:NM_173651:exon17:c.T12559C:p.S4187P,D,.,N,T,D,T
chr2,189871078,189871078,G,A,P270959_S,COL3A1,Missense_Mutation,NM_000090,exon43,c.G3101A,p.R1034H,SNP,SNVindel,exonic,COL3A1,NA,nonsynonymous SNV,COL3A1:NM_000090:exon43:c.G3101A:p.R1034H,D,N,D,D,D,D
chr2,189916127,189916127,A,G,P270959_S,COL5A2,Silent,NM_000393,exon42,c.T2850C,p.H950H,SNP,SNVindel,exonic,COL5A2,NA,synonymous SNV,COL5A2:NM_000393:exon42:c.T2850C:p.H950H,NA,NA,NA,NA,NA,NA
chr2,190531922,190531922,C,T,P270959_S,ASNSD1,Missense_Mutation,NM_001353497,exon3,c.C1064T,p.A355V,SNP,SNVindel,exonic,ASNSD1,NA,nonsynonymous SNV,"ASNSD1:NM_001353497:exon3:c.C1064T:p.A355V,ASNSD1:NM_019048:exon4:c.C1064T:p.A355V",D,D,D,T,D,T
chr2,196801440,196801440,A,G,P270959_S,DNAH7,Missense_Mutation,NM_018897,exon20,c.T3155C,p.L1052P,SNP,SNVindel,exonic,DNAH7,NA,nonsynonymous SNV,DNAH7:NM_018897:exon20:c.T3155C:p.L1052P,T,D,D,T,D,T
chr2,201369584,201369584,C,T,P270959_S,KCTD18,Missense_Mutation,NM_001321547,exon3,c.G259A,p.A87T,SNP,SNVindel,exonic,KCTD18,NA,nonsynonymous SNV,"KCTD18:NM_001321547:exon3:c.G259A:p.A87T,KCTD18:NM_152387:exon3:c.G259A:p.A87T",D,D,D,T,N,D
chr2,201524002,201524002,G,A,P270959_S,AOX1,Missense_Mutation,NM_001159,exon28,c.G3286A,p.G1096S,SNP,SNVindel,exonic,AOX1,NA,nonsynonymous SNV,AOX1:NM_001159:exon28:c.G3286A:p.G1096S,D,D,D,T,D,T
chr2,201846033,201846033,C,T,P270959_S,FAM126B,Missense_Mutation,NM_001321618,exon11,c.G1553A,p.R518Q,SNP,SNVindel,exonic,FAM126B,NA,nonsynonymous SNV,"FAM126B:NM_001321618:exon11:c.G1553A:p.R518Q,FAM126B:NM_001321621:exon11:c.G1553A:p.R518Q,FAM126B:NM_001321619:exon12:c.G1553A:p.R518Q,FAM126B:NM_001321624:exon12:c.G1721A:p.R574Q,FAM126B:NM_173822:exon12:c.G1553A:p.R518Q,FAM126B:NM_001321622:exon13:c.G1553A:p.R518Q,FAM126B:NM_001321623:exon13:c.G1721A:p.R574Q,FAM126B:NM_001321625:exon13:c.G1721A:p.R574Q,FAM126B:NM_001321626:exon13:c.G1721A:p.R574Q,FAM126B:NM_001321629:exon13:c.G1307A:p.R436Q,FAM126B:NM_001321627:exon14:c.G1475A:p.R492Q,FAM126B:NM_001321628:exon14:c.G1475A:p.R492Q",D,D,D,D,N,D
chr2,202609063,202609063,G,A,P270959_S,ALS2,Silent,NM_020919,exon10,c.C2088T,p.H696H,SNP,SNVindel,exonic,ALS2,NA,synonymous SNV,ALS2:NM_020919:exon10:c.C2088T:p.H696H,NA,NA,NA,NA,NA,NA
chr2,203395675,203395675,G,A,P270959_S,BMPR2,Missense_Mutation,NM_001204,exon8,c.G1126A,p.E376K,SNP,SNVindel,exonic,BMPR2,NA,nonsynonymous SNV,BMPR2:NM_001204:exon8:c.G1126A:p.E376K,D,D,D,T,D,T
chr2,206869670,206869670,G,A,P270959_S,INO80D,Missense_Mutation,NM_017759,exon11,c.C2506T,p.P836S,SNP,SNVindel,exonic,INO80D,NA,nonsynonymous SNV,INO80D:NM_017759:exon11:c.C2506T:p.P836S,D,D,D,T,N,T
chr2,209113112,209113112,C,T,P270959_S,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,209200863,209200863,T,G,P270959_S,PIKFYVE,Missense_Mutation,NM_015040,exon27,c.T4459G,p.F1487V,SNP,SNVindel,exonic,PIKFYVE,NA,nonsynonymous SNV,PIKFYVE:NM_015040:exon27:c.T4459G:p.F1487V,T,D,D,T,N,T
chr2,210588343,210588343,G,A,P270959_S,MAP2,Missense_Mutation,NM_031847,exon10,c.G1030A,p.D344N,SNP,SNVindel,exonic,MAP2,NA,nonsynonymous SNV,"MAP2:NM_031847:exon10:c.G1030A:p.D344N,MAP2:NM_001039538:exon12:c.G1201A:p.D401N",D,.,D,D,D,D
chr2,216271855,216271855,C,T,P270959_S,FN1,Missense_Mutation,NM_001306129,exon18,c.G2708A,p.R903H,SNP,SNVindel,exonic,FN1,NA,nonsynonymous SNV,"FN1:NM_001306129:exon18:c.G2708A:p.R903H,FN1:NM_001306130:exon18:c.G2708A:p.R903H,FN1:NM_001306131:exon18:c.G2708A:p.R903H,FN1:NM_001306132:exon18:c.G2708A:p.R903H,FN1:NM_001365517:exon18:c.G2708A:p.R903H,FN1:NM_001365518:exon18:c.G2708A:p.R903H,FN1:NM_001365519:exon18:c.G2708A:p.R903H,FN1:NM_001365520:exon18:c.G2708A:p.R903H,FN1:NM_001365521:exon18:c.G2708A:p.R903H,FN1:NM_001365522:exon18:c.G2708A:p.R903H,FN1:NM_001365523:exon18:c.G2708A:p.R903H,FN1:NM_001365524:exon18:c.G2708A:p.R903H,FN1:NM_002026:exon18:c.G2708A:p.R903H,FN1:NM_212474:exon18:c.G2708A:p.R903H,FN1:NM_212476:exon18:c.G2708A:p.R903H,FN1:NM_212478:exon18:c.G2708A:p.R903H,FN1:NM_212482:exon18:c.G2708A:p.R903H",T,D,N,T,N,T
chr2,218713164,218713164,C,T,P270959_S,TNS1,Silent,NM_001308022,exon16,c.G1701A,p.A567A,SNP,SNVindel,exonic,TNS1,NA,synonymous SNV,"TNS1:NM_001308022:exon16:c.G1701A:p.A567A,TNS1:NM_001308023:exon16:c.G1701A:p.A567A,TNS1:NM_022648:exon17:c.G1701A:p.A567A",NA,NA,NA,NA,NA,NA
chr2,220357500,220357500,G,A,P270959_S,SPEG,Missense_Mutation,NM_005876,exon41,c.G9796A,p.G3266S,SNP,SNVindel,exonic,SPEG,NA,nonsynonymous SNV,SPEG:NM_005876:exon41:c.G9796A:p.G3266S,T,N,N,T,N,T
chr2,220421390,220421390,G,A,P270959_S,OBSL1,Silent,NM_001173431,exon13,c.C4122T,p.G1374G,SNP,SNVindel,exonic,OBSL1,NA,synonymous SNV,"OBSL1:NM_001173431:exon13:c.C4122T:p.G1374G,OBSL1:NM_015311:exon13:c.C4122T:p.G1374G",NA,NA,NA,NA,NA,NA
chr2,220428332,220428332,C,T,P270959_S,OBSL1,Missense_Mutation,NM_001173408,exon7,c.G2425A,p.V809M,SNP,SNVindel,exonic,OBSL1,NA,nonsynonymous SNV,"OBSL1:NM_001173408:exon7:c.G2425A:p.V809M,OBSL1:NM_001173431:exon7:c.G2425A:p.V809M,OBSL1:NM_015311:exon7:c.G2425A:p.V809M",D,.,N,T,N,T
chr2,222298992,222298992,C,T,P270959_S,EPHA4,Missense_Mutation,NM_001304537,exon13,c.G2213A,p.R738Q,SNP,SNVindel,exonic,EPHA4,NA,nonsynonymous SNV,"EPHA4:NM_001304537:exon13:c.G2213A:p.R738Q,EPHA4:NM_001363748:exon14:c.G2366A:p.R789Q,EPHA4:NM_004438:exon14:c.G2366A:p.R789Q,EPHA4:NM_001304536:exon15:c.G2366A:p.R789Q",D,D,D,D,D,D
chr2,227954648,227954648,G,A,P270959_S,COL4A4,Silent,NM_000092,exon21,c.C1395T,p.P465P,SNP,SNVindel,exonic,COL4A4,NA,synonymous SNV,COL4A4:NM_000092:exon21:c.C1395T:p.P465P,NA,NA,NA,NA,NA,NA
chr2,232393458,232393458,G,A,P270959_S,NMUR1,Missense_Mutation,NM_006056,exon2,c.C274T,p.R92C,SNP,SNVindel,exonic,NMUR1,NA,nonsynonymous SNV,NMUR1:NM_006056:exon2:c.C274T:p.R92C,D,N,D,T,D,T
chr2,233274326,233274326,G,A,P270959_S,ALPG,Missense_Mutation,NM_031313,exon11,c.G1343A,p.G448E,SNP,SNVindel,exonic,ALPG,NA,nonsynonymous SNV,ALPG:NM_031313:exon11:c.G1343A:p.G448E,T,N,N,D,N,T
chr2,233635766,233635766,T,C,P270959_S,KCNJ13,Missense_Mutation,NM_001172417,exon2,c.A67G,p.I23V,SNP,SNVindel,exonic,KCNJ13,NA,nonsynonymous SNV,"KCNJ13:NM_001172417:exon2:c.A67G:p.I23V,KCNJ13:NM_002242:exon2:c.A307G:p.I103V",T,D,D,D,N,D
chr2,233660900,233660900,G,A,P270959_S,GIGYF2,Nonsense_Mutation,NM_001103148,exon13,c.G1590A,p.W530X,SNP,SNVindel,exonic,GIGYF2,NA,stopgain,"GIGYF2:NM_001103148:exon13:c.G1590A:p.W530X,GIGYF2:NM_001103146:exon14:c.G1608A:p.W536X,GIGYF2:NM_001103147:exon16:c.G1671A:p.W557X,GIGYF2:NM_015575:exon16:c.G1608A:p.W536X",.,D,A,.,.,.
chr2,234835265,234835265,C,T,P270959_S,TRPM8,Missense_Mutation,NM_024080,exon2,c.C83T,p.A28V,SNP,SNVindel,exonic,TRPM8,NA,nonsynonymous SNV,TRPM8:NM_024080:exon2:c.C83T:p.A28V,T,N,N,T,N,T
chr2,238249727,238249727,G,A,P270959_S,COL6A3,Missense_Mutation,NM_057166,exon35,c.C6011T,p.A2004V,SNP,SNVindel,exonic,COL6A3,NA,nonsynonymous SNV,"COL6A3:NM_057166:exon35:c.C6011T:p.A2004V,COL6A3:NM_057167:exon37:c.C7214T:p.A2405V,COL6A3:NM_004369:exon38:c.C7832T:p.A2611V",T,N,D,D,N,D
chr2,238274409,238274409,C,T,P270959_S,COL6A3,Missense_Mutation,NM_057166,exon9,c.G3949A,p.V1317I,SNP,SNVindel,exonic,COL6A3,NA,nonsynonymous SNV,"COL6A3:NM_057166:exon9:c.G3949A:p.V1317I,COL6A3:NM_057167:exon11:c.G5152A:p.V1718I,COL6A3:NM_004369:exon12:c.G5770A:p.V1924I",T,N,N,T,N,T
chr2,241661245,241661245,G,A,P270959_S,KIF1A,Silent,NM_004321,exon42,c.C4419T,p.C1473C,SNP,SNVindel,exonic,KIF1A,NA,synonymous SNV,"KIF1A:NM_004321:exon42:c.C4419T:p.C1473C,KIF1A:NM_001320705:exon43:c.C4446T:p.C1482C,KIF1A:NM_001330290:exon43:c.C4521T:p.C1507C,KIF1A:NM_001244008:exon44:c.C4722T:p.C1574C,KIF1A:NM_001330289:exon44:c.C4473T:p.C1491C",NA,NA,NA,NA,NA,NA
chr2,241827816,241827816,G,A,P270959_S,MAB21L4,Missense_Mutation,NM_001085437,exon4,c.C1144T,p.R382C,SNP,SNVindel,exonic,MAB21L4,NA,nonsynonymous SNV,"MAB21L4:NM_001085437:exon4:c.C1144T:p.R382C,MAB21L4:NM_001282921:exon4:c.C697T:p.R233C,MAB21L4:NM_024861:exon4:c.C640T:p.R214C",T,N,N,T,N,T
chr2,241905769,241905769,C,T,P270959_S,CROCC2,Silent,NM_001351305,exon25,c.C4089T,p.T1363T,SNP,SNVindel,exonic,CROCC2,NA,synonymous SNV,CROCC2:NM_001351305:exon25:c.C4089T:p.T1363T,NA,NA,NA,NA,NA,NA
chr3,12977834,12977834,C,T,P270959_S,IQSEC1,Missense_Mutation,NM_001134382,exon3,c.G682A,p.A228T,SNP,SNVindel,exonic,IQSEC1,NA,nonsynonymous SNV,"IQSEC1:NM_001134382:exon3:c.G682A:p.A228T,IQSEC1:NM_001330619:exon3:c.G358A:p.A120T,IQSEC1:NM_014869:exon3:c.G724A:p.A242T",T,D,D,T,N,T
chr3,14697068,14697068,C,T,P270959_S,CCDC174,Silent,NM_016474,exon3,c.C180T,p.G60G,SNP,SNVindel,exonic,CCDC174,NA,synonymous SNV,CCDC174:NM_016474:exon3:c.C180T:p.G60G,NA,NA,NA,NA,NA,NA
chr3,14860896,14860896,C,T,P270959_S,FGD5,Silent,NM_001320276,exon1,c.C318T,p.G106G,SNP,SNVindel,exonic,FGD5,NA,synonymous SNV,"FGD5:NM_001320276:exon1:c.C318T:p.G106G,FGD5:NM_152536:exon1:c.C318T:p.G106G",NA,NA,NA,NA,NA,NA
chr3,14862572,14862572,C,T,P270959_S,FGD5,Missense_Mutation,NM_001320276,exon1,c.C1994T,p.T665M,SNP,SNVindel,exonic,FGD5,NA,nonsynonymous SNV,"FGD5:NM_001320276:exon1:c.C1994T:p.T665M,FGD5:NM_152536:exon1:c.C1994T:p.T665M",D,N,D,T,D,D
chr3,15064843,15064843,A,C,P270959_S,NR2C2,Missense_Mutation,NM_001291694,exon6,c.A693C,p.K231N,SNP,SNVindel,exonic,NR2C2,NA,nonsynonymous SNV,"NR2C2:NM_001291694:exon6:c.A693C:p.K231N,NR2C2:NM_003298:exon7:c.A750C:p.K250N",T,D,D,D,N,T
chr3,19295297,19295297,T,C,P270959_S,KCNH8,Silent,NM_144633,exon2,c.T228C,p.N76N,SNP,SNVindel,exonic,KCNH8,NA,synonymous SNV,KCNH8:NM_144633:exon2:c.T228C:p.N76N,NA,NA,NA,NA,NA,NA
chr3,33135495,33135495,G,A,P270959_S,TMPPE,Missense_Mutation,NM_001039770,exon2,c.C193T,p.R65C,SNP,SNVindel,exonic,TMPPE,NA,nonsynonymous SNV,TMPPE:NM_001039770:exon2:c.C193T:p.R65C,D,N,D,.,N,T
chr3,33552234,33552234,G,A,P270959_S,CLASP2,Missense_Mutation,NM_001207044,exon31,c.C3497T,p.A1166V,SNP,SNVindel,exonic,CLASP2,NA,nonsynonymous SNV,"CLASP2:NM_001207044:exon31:c.C3497T:p.A1166V,CLASP2:NM_001365633:exon34:c.C4094T:p.A1365V,CLASP2:NM_001365634:exon34:c.C4091T:p.A1364V,CLASP2:NM_001365630:exon35:c.C4142T:p.A1381V,CLASP2:NM_001365631:exon36:c.C4133T:p.A1378V,CLASP2:NM_001365632:exon36:c.C4130T:p.A1377V,CLASP2:NM_001365627:exon37:c.C4196T:p.A1399V,CLASP2:NM_015097:exon37:c.C4160T:p.A1387V,CLASP2:NM_001365628:exon38:c.C4220T:p.A1407V,CLASP2:NM_001365629:exon38:c.C4217T:p.A1406V",T,D,D,T,N,T
chr3,38040511,38040511,C,T,P270959_S,VILL,Missense_Mutation,NM_001370265,exon6,c.C442T,p.R148W,SNP,SNVindel,exonic,VILL,NA,nonsynonymous SNV,"VILL:NM_001370265:exon6:c.C442T:p.R148W,VILL:NM_001370264:exon7:c.C541T:p.R181W,VILL:NM_015873:exon9:c.C1051T:p.R351W",D,N,N,T,N,T
chr3,42244369,42244369,G,A,P270959_S,TRAK1,Silent,NM_001265610,exon12,c.G1647A,p.P549P,SNP,SNVindel,exonic,TRAK1,NA,synonymous SNV,TRAK1:NM_001265610:exon12:c.G1647A:p.P549P,NA,NA,NA,NA,NA,NA
chr3,42799777,42799777,T,C,P270959_S,CCDC13,Missense_Mutation,NM_144719,exon2,c.A61G,p.M21V,SNP,SNVindel,exonic,CCDC13,NA,nonsynonymous SNV,CCDC13:NM_144719:exon2:c.A61G:p.M21V,T,D,N,T,N,T
chr3,43389711,43389711,C,A,P270959_S,SNRK,Missense_Mutation,NM_001330750,exon5,c.C1342A,p.L448I,SNP,SNVindel,exonic,SNRK,NA,nonsynonymous SNV,"SNRK:NM_001330750:exon5:c.C1342A:p.L448I,SNRK:NM_001100594:exon6:c.C1960A:p.L654I,SNRK:NM_017719:exon7:c.C1960A:p.L654I",D,D,D,T,N,T
chr3,44442738,44442738,A,G,P270959_S,TCAIM,Missense_Mutation,NM_001282913,exon10,c.A1162G,p.I388V,SNP,SNVindel,exonic,TCAIM,NA,nonsynonymous SNV,"TCAIM:NM_001282913:exon10:c.A1162G:p.I388V,TCAIM:NM_001282914:exon10:c.A730G:p.I244V,TCAIM:NM_001282915:exon10:c.A730G:p.I244V,TCAIM:NM_173826:exon10:c.A1162G:p.I388V",T,N,D,T,N,T
chr3,45954631,45954631,T,C,P270959_S,LZTFL1,Missense_Mutation,NM_001276379,exon2,c.A8G,p.N3S,SNP,SNVindel,exonic,LZTFL1,NA,nonsynonymous SNV,LZTFL1:NM_001276379:exon2:c.A8G:p.N3S,D,.,N,T,N,T
chr3,47158213,47158213,G,A,P270959_S,SETD2,Nonsense_Mutation,NM_001349370,exon3,c.C4354T,p.R1452X,SNP,SNVindel,exonic,SETD2,NA,stopgain,"SETD2:NM_001349370:exon3:c.C4354T:p.R1452X,SETD2:NM_014159:exon4:c.C4486T:p.R1496X",.,D,A,.,.,.
chr3,47449946,47449946,C,T,P270959_S,PTPN23,Silent,NM_001304482,exon14,c.C918T,p.P306P,SNP,SNVindel,exonic,PTPN23,NA,synonymous SNV,"PTPN23:NM_001304482:exon14:c.C918T:p.P306P,PTPN23:NM_015466:exon15:c.C1296T:p.P432P",NA,NA,NA,NA,NA,NA
chr3,49662655,49662655,G,A,P270959_S,BSN,Missense_Mutation,NM_003458,exon2,c.G472A,p.V158I,SNP,SNVindel,exonic,BSN,NA,nonsynonymous SNV,BSN:NM_003458:exon2:c.G472A:p.V158I,D,D,D,T,N,T
chr3,49723547,49723547,G,A,P270959_S,MST1,Silent,NM_020998,exon9,c.C1095T,p.R365R,SNP,SNVindel,exonic,MST1,NA,synonymous SNV,MST1:NM_020998:exon9:c.C1095T:p.R365R,NA,NA,NA,NA,NA,NA
chr3,50225252,50225252,G,A,P270959_S,SEMA3F,Missense_Mutation,NM_001318798,exon18,c.G1765A,p.V589I,SNP,SNVindel,exonic,SEMA3F,NA,nonsynonymous SNV,"SEMA3F:NM_001318798:exon18:c.G1765A:p.V589I,SEMA3F:NM_001318800:exon18:c.G1969A:p.V657I,SEMA3F:NM_004186:exon19:c.G2062A:p.V688I",D,N,N,T,N,T
chr3,51475669,51475669,A,G,P270959_S,DCAF1,Missense_Mutation,NM_001349171,exon6,c.T512C,p.V171A,SNP,SNVindel,exonic,DCAF1,NA,nonsynonymous SNV,"DCAF1:NM_001349171:exon6:c.T512C:p.V171A,DCAF1:NM_001171904:exon7:c.T755C:p.V252A,DCAF1:NM_001349170:exon7:c.T758C:p.V253A,DCAF1:NM_001349168:exon8:c.T758C:p.V253A,DCAF1:NM_014703:exon8:c.T758C:p.V253A,DCAF1:NM_001349169:exon9:c.T758C:p.V253A",.,N,D,.,.,T
chr3,51897237,51897237,C,T,P270959_S,IQCF2,Missense_Mutation,NM_203424,exon3,c.C346T,p.R116C,SNP,SNVindel,exonic,IQCF2,NA,nonsynonymous SNV,IQCF2:NM_203424:exon3:c.C346T:p.R116C,D,N,N,T,D,T
chr3,52263102,52263102,C,T,P270959_S,TWF2,Missense_Mutation,NM_007284,exon9,c.G998A,p.R333Q,SNP,SNVindel,exonic,TWF2,NA,nonsynonymous SNV,TWF2:NM_007284:exon9:c.G998A:p.R333Q,D,.,D,T,D,T
chr3,52379567,52379567,G,A,P270959_S,DNAH1,Missense_Mutation,NM_015512,exon10,c.G1501A,p.V501M,SNP,SNVindel,exonic,DNAH1,NA,nonsynonymous SNV,DNAH1:NM_015512:exon10:c.G1501A:p.V501M,T,D,N,T,N,T
chr3,52469783,52469783,C,T,P270959_S,SEMA3G,Missense_Mutation,NM_020163,exon16,c.G2185A,p.V729M,SNP,SNVindel,exonic,SEMA3G,NA,nonsynonymous SNV,SEMA3G:NM_020163:exon16:c.G2185A:p.V729M,T,N,N,T,N,T
chr3,52597433,52597433,C,T,P270959_S,PBRM1,Missense_Mutation,NM_001350075,exon25,c.G3952A,p.E1318K,SNP,SNVindel,exonic,PBRM1,NA,nonsynonymous SNV,"PBRM1:NM_001350075:exon25:c.G3952A:p.E1318K,PBRM1:NM_018313:exon25:c.G3877A:p.E1293K,PBRM1:NM_001366071:exon26:c.G4015A:p.E1339K,PBRM1:NM_001366072:exon26:c.G4015A:p.E1339K,PBRM1:NM_001366073:exon26:c.G4006A:p.E1336K,PBRM1:NM_001366076:exon26:c.G3955A:p.E1319K,PBRM1:NM_181042:exon26:c.G3952A:p.E1318K,PBRM1:NM_001350079:exon27:c.G3940A:p.E1314K,PBRM1:NM_001366070:exon27:c.G4060A:p.E1354K,PBRM1:NM_001366074:exon27:c.G4003A:p.E1335K,PBRM1:NM_001366075:exon27:c.G3985A:p.E1329K,PBRM1:NM_001350074:exon28:c.G4060A:p.E1354K,PBRM1:NM_001350076:exon28:c.G4057A:p.E1353K,PBRM1:NM_001350078:exon28:c.G4060A:p.E1354K,PBRM1:NM_001350077:exon29:c.G4051A:p.E1351K",T,D,D,T,N,T
chr3,52831902,52831902,G,A,P270959_S,ITIH3,Missense_Mutation,NM_002217,exon6,c.G619A,p.D207N,SNP,SNVindel,exonic,ITIH3,NA,nonsynonymous SNV,ITIH3:NM_002217:exon6:c.G619A:p.D207N,T,D,D,T,N,T
chr3,53274311,53274311,G,A,P270959_S,TKT,Silent,NM_001064,exon4,c.C393T,p.A131A,SNP,SNVindel,exonic,TKT,NA,synonymous SNV,"TKT:NM_001064:exon4:c.C393T:p.A131A,TKT:NM_001135055:exon4:c.C393T:p.A131A,TKT:NM_001258028:exon4:c.C393T:p.A131A",NA,NA,NA,NA,NA,NA
chr3,58494661,58494661,G,A,P270959_S,ACOX2,Missense_Mutation,NM_003500,exon14,c.C1942T,p.R648C,SNP,SNVindel,exonic,ACOX2,NA,nonsynonymous SNV,ACOX2:NM_003500:exon14:c.C1942T:p.R648C,D,N,D,T,D,T
chr3,63813342,63813342,C,T,P270959_S,C3orf49,Missense_Mutation,NM_001355236,exon3,c.C511T,p.R171W,SNP,SNVindel,exonic,C3orf49,NA,nonsynonymous SNV,C3orf49:NM_001355236:exon3:c.C511T:p.R171W,D,N,N,.,D,T
chr3,64142994,64142994,G,A,P270959_S,PRICKLE2,Silent,NM_001370528,exon5,c.C444T,p.R148R,SNP,SNVindel,exonic,PRICKLE2,NA,synonymous SNV,"PRICKLE2:NM_001370528:exon5:c.C444T:p.R148R,PRICKLE2:NM_198859:exon5:c.C444T:p.R148R",NA,NA,NA,NA,NA,NA
chr3,72427569,72427569,G,A,P270959_S,RYBP,Silent,NM_012234,exon4,c.C624T,p.G208G,SNP,SNVindel,exonic,RYBP,NA,synonymous SNV,RYBP:NM_012234:exon4:c.C624T:p.G208G,NA,NA,NA,NA,NA,NA
chr3,73438996,73438996,G,A,P270959_S,PDZRN3,Missense_Mutation,NM_001303139,exon5,c.C481T,p.R161C,SNP,SNVindel,exonic,PDZRN3,NA,nonsynonymous SNV,"PDZRN3:NM_001303139:exon5:c.C481T:p.R161C,PDZRN3:NM_001303140:exon5:c.C358T:p.R120C,PDZRN3:NM_001303141:exon5:c.C553T:p.R185C,PDZRN3:NM_001303142:exon5:c.C538T:p.R180C,PDZRN3:NM_015009:exon7:c.C1387T:p.R463C",D,D,D,T,D,D
chr3,81754677,81754677,G,A,P270959_S,GBE1,Silent,NM_000158,exon2,c.C231T,p.G77G,SNP,SNVindel,exonic,GBE1,NA,synonymous SNV,GBE1:NM_000158:exon2:c.C231T:p.G77G,NA,NA,NA,NA,NA,NA
chr3,87311353,87311353,C,T,P270959_S,POU1F1,Missense_Mutation,NM_000306,exon4,c.G472A,p.A158T,SNP,SNVindel,exonic,POU1F1,NA,nonsynonymous SNV,"POU1F1:NM_000306:exon4:c.G472A:p.A158T,POU1F1:NM_001122757:exon4:c.G550A:p.A184T",D,D,D,D,D,D
chr3,97806445,97806445,C,T,P270959_S,OR5AC2,Silent,NM_054106,exon1,c.C429T,p.S143S,SNP,SNVindel,exonic,OR5AC2,NA,synonymous SNV,OR5AC2:NM_054106:exon1:c.C429T:p.S143S,NA,NA,NA,NA,NA,NA
chr3,100553554,100553554,C,T,P270959_S,ABI3BP,Missense_Mutation,NM_001349330,exon24,c.G1913A,p.R638H,SNP,SNVindel,exonic,ABI3BP,NA,nonsynonymous SNV,"ABI3BP:NM_001349330:exon24:c.G1913A:p.R638H,ABI3BP:NM_001349331:exon25:c.G1991A:p.R664H,ABI3BP:NM_001349329:exon26:c.G2063A:p.R688H,ABI3BP:NM_001365642:exon28:c.G2204A:p.R735H,ABI3BP:NM_001365643:exon29:c.G2276A:p.R759H",D,.,D,T,N,T
chr3,108363311,108363311,C,A,P270959_S,DZIP3,Missense_Mutation,NM_014648,exon14,c.C1442A,p.P481H,SNP,SNVindel,exonic,DZIP3,NA,nonsynonymous SNV,DZIP3:NM_014648:exon14:c.C1442A:p.P481H,D,N,D,T,N,T
chr3,113517230,113517230,G,A,P270959_S,ATP6V1A,Silent,NM_001690,exon12,c.G1431A,p.T477T,SNP,SNVindel,exonic,ATP6V1A,NA,synonymous SNV,ATP6V1A:NM_001690:exon12:c.G1431A:p.T477T,NA,NA,NA,NA,NA,NA
chr3,121304887,121304887,C,T,P270959_S,ARGFX,Nonsense_Mutation,NM_001012659,exon5,c.C388T,p.R130X,SNP,SNVindel,exonic,ARGFX,NA,stopgain,ARGFX:NM_001012659:exon5:c.C388T:p.R130X,.,N,D,.,.,.
chr3,121345737,121345737,C,T,P270959_S,FBXO40,Nonsense_Mutation,NM_016298,exon4,c.C2110T,p.R704X,SNP,SNVindel,exonic,FBXO40,NA,stopgain,FBXO40:NM_016298:exon4:c.C2110T:p.R704X,.,N,N,.,.,.
chr3,123019101,123019101,G,A,P270959_S,ADCY5,Silent,NM_001199642,exon15,c.C1716T,p.S572S,SNP,SNVindel,exonic,ADCY5,NA,synonymous SNV,"ADCY5:NM_001199642:exon15:c.C1716T:p.S572S,ADCY5:NM_183357:exon15:c.C2766T:p.S922S",NA,NA,NA,NA,NA,NA
chr3,126261320,126261320,C,T,P270959_S,CHST13,Missense_Mutation,NM_152889,exon3,c.C925T,p.R309W,SNP,SNVindel,exonic,CHST13,NA,nonsynonymous SNV,CHST13:NM_152889:exon3:c.C925T:p.R309W,D,U,N,T,D,T
chr3,126349658,126349658,C,T,P270959_S,TXNRD3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TXNRD3,NA,unknown,UNKNOWN,D,D,.,T,D,D
chr3,127783763,127783763,G,T,P270959_S,SEC61A1,Silent,NM_013336,exon8,c.G660T,p.L220L,SNP,SNVindel,exonic,SEC61A1,NA,synonymous SNV,SEC61A1:NM_013336:exon8:c.G660T:p.L220L,NA,NA,NA,NA,NA,NA
chr3,127788410,127788410,G,A,P270959_S,SEC61A1,Missense_Mutation,NM_013336,exon12,c.G1336A,p.G446R,SNP,SNVindel,exonic,SEC61A1,NA,nonsynonymous SNV,SEC61A1:NM_013336:exon12:c.G1336A:p.G446R,D,N,D,.,D,D
chr3,128664697,128664697,G,A,P270959_S,KIAA1257,Missense_Mutation,NM_001348520,exon9,c.C602T,p.A201V,SNP,SNVindel,exonic,KIAA1257,NA,nonsynonymous SNV,"KIAA1257:NM_001348520:exon9:c.C602T:p.A201V,KIAA1257:NM_001348521:exon10:c.C506T:p.A169V",T,N,N,.,N,T
chr3,129305047,129305047,G,A,P270959_S,PLXND1,Silent,NM_015103,exon4,c.C1689T,p.D563D,SNP,SNVindel,exonic,PLXND1,NA,synonymous SNV,PLXND1:NM_015103:exon4:c.C1689T:p.D563D,NA,NA,NA,NA,NA,NA
chr3,133347231,133347231,C,T,P270959_S,TOPBP1,Missense_Mutation,NM_001363889,exon16,c.G2764A,p.A922T,SNP,SNVindel,exonic,TOPBP1,NA,nonsynonymous SNV,"TOPBP1:NM_001363889:exon16:c.G2764A:p.A922T,TOPBP1:NM_007027:exon16:c.G2779A:p.A927T",T,D,D,T,N,D
chr3,134911509,134911509,G,A,P270959_S,EPHB1,Silent,NM_004441,exon11,c.G1974A,p.S658S,SNP,SNVindel,exonic,EPHB1,NA,synonymous SNV,EPHB1:NM_004441:exon11:c.G1974A:p.S658S,NA,NA,NA,NA,NA,NA
chr3,136701008,136701008,C,T,P270959_S,IL20RB,Silent,NM_144717,exon3,c.C222T,p.Y74Y,SNP,SNVindel,exonic,IL20RB,NA,synonymous SNV,IL20RB:NM_144717:exon3:c.C222T:p.Y74Y,NA,NA,NA,NA,NA,NA
chr3,137783471,137783471,T,C,P270959_S,DZIP1L,Missense_Mutation,NM_173543,exon15,c.A2141G,p.Q714R,SNP,SNVindel,exonic,DZIP1L,NA,nonsynonymous SNV,DZIP1L:NM_173543:exon15:c.A2141G:p.Q714R,T,N,N,T,N,T
chr3,138341122,138341122,C,T,P270959_S,FAIM,Silent,NM_001033032,exon3,c.C204T,p.D68D,SNP,SNVindel,exonic,FAIM,NA,synonymous SNV,"FAIM:NM_001033032:exon3:c.C204T:p.D68D,FAIM:NM_018147:exon3:c.C204T:p.D68D,FAIM:NM_001033030:exon4:c.C306T:p.D102D,FAIM:NM_001033031:exon4:c.C270T:p.D90D",NA,NA,NA,NA,NA,NA
chr3,138762752,138762752,C,T,P270959_S,PRR23C,Silent,NM_001134657,exon1,c.G711A,p.P237P,SNP,SNVindel,exonic,PRR23C,NA,synonymous SNV,PRR23C:NM_001134657:exon1:c.G711A:p.P237P,NA,NA,NA,NA,NA,NA
chr3,139102271,139102271,G,A,P270959_S,COPB2,Nonsense_Mutation,NM_004766,exon2,c.C10T,p.R4X,SNP,SNVindel,exonic,COPB2,NA,stopgain,COPB2:NM_004766:exon2:c.C10T:p.R4X,.,D,A,.,.,.
chr3,142681152,142681152,C,T,P270959_S,PAQR9,Missense_Mutation,NM_198504,exon1,c.G1027A,p.A343T,SNP,SNVindel,exonic,PAQR9,NA,nonsynonymous SNV,PAQR9:NM_198504:exon1:c.G1027A:p.A343T,T,N,N,T,N,T
chr3,149700447,149700447,G,A,P270959_S,TMEM183B,Nonsense_Mutation,NM_001079809,exon1,c.C649T,p.R217X,SNP,SNVindel,exonic,TMEM183B,NA,stopgain,TMEM183B:NM_001079809:exon1:c.C649T:p.R217X,NA,NA,NA,NA,NA,NA
chr3,149701061,149701061,C,T,P270959_S,TMEM183B,Missense_Mutation,NM_001079809,exon1,c.G35A,p.R12H,SNP,SNVindel,exonic,TMEM183B,NA,nonsynonymous SNV,TMEM183B:NM_001079809:exon1:c.G35A:p.R12H,NA,NA,NA,NA,NA,NA
chr3,154146651,154146651,A,G,P270959_S,GPR149,Missense_Mutation,NM_001038705,exon1,c.T754C,p.S252P,SNP,SNVindel,exonic,GPR149,NA,nonsynonymous SNV,GPR149:NM_001038705:exon1:c.T754C:p.S252P,T,N,N,T,N,T
chr3,164727122,164727122,G,A,P270959_S,SI,Missense_Mutation,NM_001041,exon35,c.C4124T,p.A1375V,SNP,SNVindel,exonic,SI,NA,nonsynonymous SNV,SI:NM_001041:exon35:c.C4124T:p.A1375V,T,N,N,D,N,T
chr3,169847102,169847102,C,T,P270959_S,PHC3,Silent,NM_001308116,exon8,c.G1122A,p.P374P,SNP,SNVindel,exonic,PHC3,NA,synonymous SNV,"PHC3:NM_001308116:exon8:c.G1122A:p.P374P,PHC3:NM_024947:exon8:c.G1158A:p.P386P",NA,NA,NA,NA,NA,NA
chr3,170716931,170716931,G,A,P270959_S,SLC2A2,Nonsense_Mutation,NM_001278658,exon8,c.C736T,p.R246X,SNP,SNVindel,exonic,SLC2A2,NA,stopgain,"SLC2A2:NM_001278658:exon8:c.C736T:p.R246X,SLC2A2:NM_001278659:exon8:c.C574T:p.R192X,SLC2A2:NM_000340:exon9:c.C1093T:p.R365X",.,D,A,.,.,.
chr3,170945994,170945994,G,A,P270959_S,TNIK,Missense_Mutation,NM_001161560,exon3,c.C140T,p.T47M,SNP,SNVindel,exonic,TNIK,NA,nonsynonymous SNV,"TNIK:NM_001161560:exon3:c.C140T:p.T47M,TNIK:NM_001161561:exon3:c.C140T:p.T47M,TNIK:NM_001161562:exon3:c.C140T:p.T47M,TNIK:NM_001161563:exon3:c.C140T:p.T47M,TNIK:NM_001161564:exon3:c.C140T:p.T47M,TNIK:NM_001161565:exon3:c.C140T:p.T47M,TNIK:NM_001161566:exon3:c.C140T:p.T47M,TNIK:NM_015028:exon3:c.C140T:p.T47M",D,D,D,T,D,T
chr3,172058987,172058987,G,A,P270959_S,FNDC3B,Missense_Mutation,NM_001135095,exon17,c.G1937A,p.R646Q,SNP,SNVindel,exonic,FNDC3B,NA,nonsynonymous SNV,"FNDC3B:NM_001135095:exon17:c.G1937A:p.R646Q,FNDC3B:NM_022763:exon17:c.G1937A:p.R646Q",D,D,D,T,D,D
chr3,173322839,173322839,G,A,P270959_S,NLGN1,Missense_Mutation,NM_001365923,exon2,c.G451A,p.E151K,SNP,SNVindel,exonic,NLGN1,NA,nonsynonymous SNV,"NLGN1:NM_001365923:exon2:c.G451A:p.E151K,NLGN1:NM_001365924:exon2:c.G451A:p.E151K,NLGN1:NM_001365925:exon2:c.G451A:p.E151K,NLGN1:NM_001365926:exon2:c.G451A:p.E151K,NLGN1:NM_001365927:exon2:c.G451A:p.E151K,NLGN1:NM_001365928:exon2:c.G451A:p.E151K,NLGN1:NM_001365929:exon2:c.G451A:p.E151K,NLGN1:NM_001365930:exon2:c.G451A:p.E151K,NLGN1:NM_001365931:exon2:c.G451A:p.E151K,NLGN1:NM_001365932:exon2:c.G451A:p.E151K,NLGN1:NM_001365933:exon2:c.G451A:p.E151K,NLGN1:NM_001365934:exon2:c.G451A:p.E151K,NLGN1:NM_001365935:exon2:c.G451A:p.E151K,NLGN1:NM_001365936:exon2:c.G451A:p.E151K,NLGN1:NM_014932:exon3:c.G451A:p.E151K",D,D,D,D,D,D
chr3,178936092,178936092,A,G,P270959_S,PIK3CA,Missense_Mutation,NM_006218,exon10,c.A1634G,p.E545G,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon10:c.A1634G:p.E545G,D,D,D,T,D,T
chr3,178952074,178952074,G,A,P270959_S,PIK3CA,Missense_Mutation,NM_006218,exon21,c.G3129A,p.M1043I,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon21:c.G3129A:p.M1043I,D,D,D,T,N,T
chr3,185636222,185636222,G,A,P270959_S,TRA2B,Missense_Mutation,NM_001243879,exon7,c.C487T,p.R163W,SNP,SNVindel,exonic,TRA2B,NA,nonsynonymous SNV,"TRA2B:NM_001243879:exon7:c.C487T:p.R163W,TRA2B:NM_004593:exon8:c.C787T:p.R263W",D,D,D,T,D,T
chr3,186390618,186390618,C,T,P270959_S,HRG,Missense_Mutation,NM_000412,exon5,c.C601T,p.R201W,SNP,SNVindel,exonic,HRG,NA,nonsynonymous SNV,HRG:NM_000412:exon5:c.C601T:p.R201W,D,D,N,T,D,T
chr3,190321920,190321920,G,A,P270959_S,IL1RAP,Missense_Mutation,NM_001167929,exon3,c.G68A,p.R23H,SNP,SNVindel,exonic,IL1RAP,NA,nonsynonymous SNV,"IL1RAP:NM_001167929:exon3:c.G68A:p.R23H,IL1RAP:NM_001167930:exon3:c.G68A:p.R23H,IL1RAP:NM_001364879:exon3:c.G68A:p.R23H,IL1RAP:NM_001364880:exon3:c.G68A:p.R23H,IL1RAP:NM_001167931:exon4:c.G68A:p.R23H,IL1RAP:NM_001364881:exon4:c.G68A:p.R23H,IL1RAP:NM_002182:exon4:c.G68A:p.R23H,IL1RAP:NM_134470:exon4:c.G68A:p.R23H,IL1RAP:NM_001167928:exon5:c.G68A:p.R23H",T,D,D,T,N,T
chr3,194080720,194080720,G,A,P270959_S,LRRC15,Silent,NM_130830,exon2,c.C1053T,p.N351N,SNP,SNVindel,exonic,LRRC15,NA,synonymous SNV,"LRRC15:NM_130830:exon2:c.C1053T:p.N351N,LRRC15:NM_001135057:exon3:c.C1071T:p.N357N",NA,NA,NA,NA,NA,NA
chr3,195975189,195975189,G,A,P270959_S,PCYT1A,Nonsense_Mutation,NM_001312673,exon4,c.C223T,p.R75X,SNP,SNVindel,exonic,PCYT1A,NA,stopgain,"PCYT1A:NM_001312673:exon4:c.C223T:p.R75X,PCYT1A:NM_005017:exon5:c.C223T:p.R75X",.,D,A,.,.,.
chr4,1332284,1332284,C,T,P270959_S,MAEA,Missense_Mutation,NM_001297431,exon6,c.C770T,p.A257V,SNP,SNVindel,exonic,MAEA,NA,nonsynonymous SNV,"MAEA:NM_001297431:exon6:c.C770T:p.A257V,MAEA:NM_001297430:exon7:c.C770T:p.A257V,MAEA:NM_005882:exon7:c.C851T:p.A284V,MAEA:NM_001017405:exon8:c.C974T:p.A325V,MAEA:NM_001297432:exon8:c.C971T:p.A324V,MAEA:NM_001297433:exon8:c.C830T:p.A277V",D,D,D,T,D,T
chr4,6588848,6588848,G,A,P270959_S,MAN2B2,Missense_Mutation,NM_001292038,exon4,c.G517A,p.G173S,SNP,SNVindel,exonic,MAN2B2,NA,nonsynonymous SNV,"MAN2B2:NM_001292038:exon4:c.G517A:p.G173S,MAN2B2:NM_015274:exon4:c.G517A:p.G173S",D,N,N,T,N,T
chr4,6925475,6925475,G,A,P270959_S,TBC1D14,Missense_Mutation,NM_001113361,exon2,c.G359A,p.R120Q,SNP,SNVindel,exonic,TBC1D14,NA,nonsynonymous SNV,"TBC1D14:NM_001113361:exon2:c.G359A:p.R120Q,TBC1D14:NM_020773:exon2:c.G359A:p.R120Q",T,N,N,T,N,T
chr4,8602930,8602930,C,T,P270959_S,CPZ,Missense_Mutation,NM_003652,exon2,c.C169T,p.R57W,SNP,SNVindel,exonic,CPZ,NA,nonsynonymous SNV,"CPZ:NM_003652:exon2:c.C169T:p.R57W,CPZ:NM_001014447:exon3:c.C202T:p.R68W",T,N,D,T,N,T
chr4,15067979,15067979,G,A,P270959_S,CPEB2,Missense_Mutation,NM_001177384,exon10,c.G2975A,p.R992H,SNP,SNVindel,exonic,CPEB2,NA,nonsynonymous SNV,"CPEB2:NM_001177384:exon10:c.G2975A:p.R992H,CPEB2:NM_182646:exon10:c.G2966A:p.R989H,CPEB2:NM_001177381:exon11:c.G2999A:p.R1000H,CPEB2:NM_001177383:exon11:c.G2990A:p.R997H,CPEB2:NM_182485:exon11:c.G3056A:p.R1019H,CPEB2:NM_001177382:exon12:c.G3080A:p.R1027H",D,D,D,T,D,T
chr4,15689343,15689343,C,T,P270959_S,FAM200B,Missense_Mutation,NM_001145191,exon2,c.C743T,p.A248V,SNP,SNVindel,exonic,FAM200B,NA,nonsynonymous SNV,FAM200B:NM_001145191:exon2:c.C743T:p.A248V,T,.,N,T,N,T
chr4,30723406,30723406,A,C,P270959_S,PCDH7,Missense_Mutation,NM_001173523,exon1,c.A362C,p.Q121P,SNP,SNVindel,exonic,PCDH7,NA,nonsynonymous SNV,"PCDH7:NM_001173523:exon1:c.A362C:p.Q121P,PCDH7:NM_002589:exon1:c.A362C:p.Q121P,PCDH7:NM_032456:exon1:c.A362C:p.Q121P,PCDH7:NM_032457:exon1:c.A362C:p.Q121P",D,.,D,T,N,T
chr4,30724220,30724220,G,T,P270959_S,PCDH7,Missense_Mutation,NM_001173523,exon1,c.G1176T,p.Q392H,SNP,SNVindel,exonic,PCDH7,NA,nonsynonymous SNV,"PCDH7:NM_001173523:exon1:c.G1176T:p.Q392H,PCDH7:NM_002589:exon1:c.G1176T:p.Q392H,PCDH7:NM_032456:exon1:c.G1176T:p.Q392H,PCDH7:NM_032457:exon1:c.G1176T:p.Q392H",D,.,D,T,N,T
chr4,40245120,40245120,C,T,P270959_S,RHOH,Silent,NM_001278363,exon3,c.C114T,p.Y38Y,SNP,SNVindel,exonic,RHOH,NA,synonymous SNV,"RHOH:NM_001278363:exon3:c.C114T:p.Y38Y,RHOH:NM_001278367:exon3:c.C114T:p.Y38Y,RHOH:NM_001278368:exon3:c.C114T:p.Y38Y,RHOH:NM_001278369:exon3:c.C114T:p.Y38Y,RHOH:NM_004310:exon3:c.C114T:p.Y38Y,RHOH:NM_001278359:exon4:c.C114T:p.Y38Y,RHOH:NM_001278360:exon4:c.C114T:p.Y38Y,RHOH:NM_001278361:exon4:c.C114T:p.Y38Y,RHOH:NM_001278362:exon4:c.C114T:p.Y38Y,RHOH:NM_001278365:exon4:c.C114T:p.Y38Y,RHOH:NM_001278366:exon4:c.C114T:p.Y38Y,RHOH:NM_001278364:exon5:c.C114T:p.Y38Y",NA,NA,NA,NA,NA,NA
chr4,40351405,40351405,C,T,P270959_S,CHRNA9,Missense_Mutation,NM_017581,exon4,c.C872T,p.P291L,SNP,SNVindel,exonic,CHRNA9,NA,nonsynonymous SNV,CHRNA9:NM_017581:exon4:c.C872T:p.P291L,D,D,D,D,D,D
chr4,54280858,54280858,C,T,P270959_S,FIP1L1,Nonsense_Mutation,NM_001134937,exon10,c.C847T,p.R283X,SNP,SNVindel,exonic,FIP1L1,NA,stopgain,"FIP1L1:NM_001134937:exon10:c.C847T:p.R283X,FIP1L1:NM_030917:exon11:c.C892T:p.R298X",.,D,A,.,.,.
chr4,57377385,57377385,A,G,P270959_S,ARL9,Missense_Mutation,NM_001363794,exon2,c.A314G,p.D105G,SNP,SNVindel,exonic,ARL9,NA,nonsynonymous SNV,ARL9:NM_001363794:exon2:c.A314G:p.D105G,NA,NA,NA,NA,NA,NA
chr4,66467589,66467589,C,T,P270959_S,EPHA5,Missense_Mutation,NM_001281765,exon3,c.G680A,p.R227H,SNP,SNVindel,exonic,EPHA5,NA,nonsynonymous SNV,"EPHA5:NM_001281765:exon3:c.G680A:p.R227H,EPHA5:NM_001281766:exon3:c.G680A:p.R227H,EPHA5:NM_001281767:exon3:c.G680A:p.R227H,EPHA5:NM_001318761:exon3:c.G473A:p.R158H,EPHA5:NM_004439:exon3:c.G680A:p.R227H,EPHA5:NM_182472:exon3:c.G680A:p.R227H",D,D,D,T,D,T
chr4,68925057,68925057,A,G,P270959_S,TMPRSS11F,Missense_Mutation,NM_207407,exon9,c.T1145C,p.I382T,SNP,SNVindel,exonic,TMPRSS11F,NA,nonsynonymous SNV,TMPRSS11F:NM_207407:exon9:c.T1145C:p.I382T,T,N,D,D,N,T
chr4,70156481,70156481,C,T,P270959_S,UGT2B28,Missense_Mutation,NM_053039,exon5,c.C1262T,p.S421L,SNP,SNVindel,exonic,UGT2B28,NA,nonsynonymous SNV,UGT2B28:NM_053039:exon5:c.C1262T:p.S421L,D,U,N,T,D,T
chr4,71099872,71099872,G,A,P270959_S,FDCSP,Missense_Mutation,NM_152997,exon4,c.G226A,p.A76T,SNP,SNVindel,exonic,FDCSP,NA,nonsynonymous SNV,FDCSP:NM_152997:exon4:c.G226A:p.A76T,T,N,N,.,N,T
chr4,76797614,76797614,G,A,P270959_S,PPEF2,Silent,NM_006239,exon11,c.C1146T,p.D382D,SNP,SNVindel,exonic,PPEF2,NA,synonymous SNV,PPEF2:NM_006239:exon11:c.C1146T:p.D382D,NA,NA,NA,NA,NA,NA
chr4,77662513,77662513,C,T,P270959_S,SHROOM3,Missense_Mutation,NM_020859,exon5,c.C3187T,p.R1063C,SNP,SNVindel,exonic,SHROOM3,NA,nonsynonymous SNV,SHROOM3:NM_020859:exon5:c.C3187T:p.R1063C,D,N,D,T,D,T
chr4,77662664,77662664,G,A,P270959_S,SHROOM3,Missense_Mutation,NM_020859,exon5,c.G3338A,p.R1113H,SNP,SNVindel,exonic,SHROOM3,NA,nonsynonymous SNV,SHROOM3:NM_020859:exon5:c.G3338A:p.R1113H,D,N,N,T,N,T
chr4,79176444,79176444,G,A,P270959_S,FRAS1,Missense_Mutation,NM_001166133,exon6,c.G518A,p.R173Q,SNP,SNVindel,exonic,FRAS1,NA,nonsynonymous SNV,"FRAS1:NM_001166133:exon6:c.G518A:p.R173Q,FRAS1:NM_025074:exon6:c.G518A:p.R173Q",T,N,N,T,N,T
chr4,81207508,81207508,G,T,P270959_S,FGF5,Missense_Mutation,NM_001291812,exon3,c.G60T,p.R20S,SNP,SNVindel,exonic,FGF5,NA,nonsynonymous SNV,"FGF5:NM_001291812:exon3:c.G60T:p.R20S,FGF5:NM_004464:exon3:c.G489T:p.R163S",D,D,D,T,D,D
chr4,82125829,82125829,C,T,P270959_S,PRKG2,Missense_Mutation,NM_001282485,exon2,c.G373A,p.V125M,SNP,SNVindel,exonic,PRKG2,NA,nonsynonymous SNV,"PRKG2:NM_001282485:exon2:c.G373A:p.V125M,PRKG2:NM_001363401:exon2:c.G373A:p.V125M,PRKG2:NM_006259:exon2:c.G373A:p.V125M",D,D,D,T,N,D
chr4,83411361,83411361,C,T,P270959_S,TMEM150C,Missense_Mutation,NM_001080506,exon7,c.G394A,p.G132R,SNP,SNVindel,exonic,TMEM150C,NA,nonsynonymous SNV,"TMEM150C:NM_001080506:exon7:c.G394A:p.G132R,TMEM150C:NM_001353454:exon7:c.G484A:p.G162R,TMEM150C:NM_001353455:exon7:c.G394A:p.G132R",D,.,D,T,D,T
chr4,83417256,83417256,C,T,P270959_S,TMEM150C,Missense_Mutation,NM_001080506,exon6,c.G328A,p.A110T,SNP,SNVindel,exonic,TMEM150C,NA,nonsynonymous SNV,"TMEM150C:NM_001080506:exon6:c.G328A:p.A110T,TMEM150C:NM_001353454:exon6:c.G418A:p.A140T,TMEM150C:NM_001353455:exon6:c.G328A:p.A110T",T,.,D,T,N,T
chr4,85525445,85525445,C,T,P270959_S,CDS1,Missense_Mutation,NM_001263,exon2,c.C167T,p.S56F,SNP,SNVindel,exonic,CDS1,NA,nonsynonymous SNV,CDS1:NM_001263:exon2:c.C167T:p.S56F,D,D,D,T,N,T
chr4,89034655,89034655,A,T,P270959_S,ABCG2,Missense_Mutation,NM_001257386,exon9,c.T994A,p.L332I,SNP,SNVindel,exonic,ABCG2,NA,nonsynonymous SNV,"ABCG2:NM_001257386:exon9:c.T994A:p.L332I,ABCG2:NM_001348986:exon9:c.T994A:p.L332I,ABCG2:NM_001348987:exon9:c.T988A:p.L330I,ABCG2:NM_001348989:exon9:c.T994A:p.L332I,ABCG2:NM_004827:exon9:c.T994A:p.L332I,ABCG2:NM_001348985:exon10:c.T994A:p.L332I,ABCG2:NM_001348988:exon10:c.T994A:p.L332I",T,N,D,D,N,T
chr4,100203666,100203666,G,A,P270959_S,ADH1A,Missense_Mutation,NM_000667,exon6,c.C665T,p.A222V,SNP,SNVindel,exonic,ADH1A,NA,nonsynonymous SNV,ADH1A:NM_000667:exon6:c.C665T:p.A222V,D,N,N,T,D,T
chr4,100470492,100470492,T,C,P270959_S,TRMT10A,Missense_Mutation,NM_001134665,exon8,c.A773G,p.Y258C,SNP,SNVindel,exonic,TRMT10A,NA,nonsynonymous SNV,"TRMT10A:NM_001134665:exon8:c.A773G:p.Y258C,TRMT10A:NM_001134666:exon8:c.A773G:p.Y258C,TRMT10A:NM_152292:exon8:c.A773G:p.Y258C",D,D,D,T,D,T
chr4,106763279,106763279,C,T,P270959_S,GSTCD,Nonsense_Mutation,NM_001031720,exon11,c.C1753T,p.R585X,SNP,SNVindel,exonic,GSTCD,NA,stopgain,"GSTCD:NM_001031720:exon11:c.C1753T:p.R585X,GSTCD:NM_001370181:exon11:c.C1753T:p.R585X,GSTCD:NM_024751:exon11:c.C1492T:p.R498X",.,D,D,.,.,.
chr4,110605703,110605703,G,A,P270959_S,MCUB,Silent,NM_017918,exon6,c.G717A,p.T239T,SNP,SNVindel,exonic,MCUB,NA,synonymous SNV,MCUB:NM_017918:exon6:c.G717A:p.T239T,NA,NA,NA,NA,NA,NA
chr4,123664308,123664308,C,T,P270959_S,BBS12,Missense_Mutation,NM_152618,exon2,c.C1261T,p.R421C,SNP,SNVindel,exonic,BBS12,NA,nonsynonymous SNV,"BBS12:NM_152618:exon2:c.C1261T:p.R421C,BBS12:NM_001178007:exon3:c.C1261T:p.R421C",T,N,N,T,N,T
chr4,128694665,128694665,C,T,P270959_S,SLC25A31,Missense_Mutation,NM_031291,exon6,c.C884T,p.A295V,SNP,SNVindel,exonic,SLC25A31,NA,nonsynonymous SNV,SLC25A31:NM_031291:exon6:c.C884T:p.A295V,D,D,D,D,D,D
chr4,148985621,148985621,G,A,P270959_S,ARHGAP10,Silent,NM_024605,exon22,c.G2235A,p.S745S,SNP,SNVindel,exonic,ARHGAP10,NA,synonymous SNV,ARHGAP10:NM_024605:exon22:c.G2235A:p.S745S,NA,NA,NA,NA,NA,NA
chr4,153247194,153247194,C,T,P270959_S,FBXW7,Silent,NM_001013415,exon9,c.G1254A,p.T418T,SNP,SNVindel,exonic,FBXW7,NA,synonymous SNV,"FBXW7:NM_001013415:exon9:c.G1254A:p.T418T,FBXW7:NM_018315:exon9:c.G1368A:p.T456T,FBXW7:NM_033632:exon10:c.G1608A:p.T536T,FBXW7:NM_001349798:exon12:c.G1608A:p.T536T",NA,NA,NA,NA,NA,NA
chr4,169433082,169433082,C,T,P270959_S,PALLD,Missense_Mutation,NM_001166108,exon2,c.C427T,p.R143C,SNP,SNVindel,exonic,PALLD,NA,nonsynonymous SNV,"PALLD:NM_001166108:exon2:c.C427T:p.R143C,PALLD:NM_016081:exon2:c.C427T:p.R143C",D,U,N,T,N,T
chr4,170028151,170028151,G,A,P270959_S,SH3RF1,Missense_Mutation,NM_020870,exon11,c.C2345T,p.T782M,SNP,SNVindel,exonic,SH3RF1,NA,nonsynonymous SNV,SH3RF1:NM_020870:exon11:c.C2345T:p.T782M,D,N,N,T,N,T
chr4,186560088,186560088,C,T,P270959_S,SORBS2,Silent,NM_001145671,exon12,c.G1044A,p.P348P,SNP,SNVindel,exonic,SORBS2,NA,synonymous SNV,"SORBS2:NM_001145671:exon12:c.G1044A:p.P348P,SORBS2:NM_001145673:exon12:c.G1323A:p.P441P",NA,NA,NA,NA,NA,NA
chr4,187131752,187131752,G,A,P270959_S,CYP4V2,Missense_Mutation,NM_207352,exon11,c.G1535A,p.G512D,SNP,SNVindel,exonic,CYP4V2,NA,nonsynonymous SNV,CYP4V2:NM_207352:exon11:c.G1535A:p.G512D,D,D,D,T,D,D
chr4,187539784,187539784,G,A,P270959_S,FAT1,Silent,NM_005245,exon10,c.C7956T,p.S2652S,SNP,SNVindel,exonic,FAT1,NA,synonymous SNV,FAT1:NM_005245:exon10:c.C7956T:p.S2652S,NA,NA,NA,NA,NA,NA
chr5,5464499,5464499,G,A,P270959_S,ICE1,Nonsense_Mutation,NM_015325,exon13,c.G5052A,p.W1684X,SNP,SNVindel,exonic,ICE1,NA,stopgain,ICE1:NM_015325:exon13:c.G5052A:p.W1684X,.,.,A,.,.,.
chr5,9054362,9054362,G,A,P270959_S,SEMA5A,Silent,NM_003966,exon19,c.C2526T,p.G842G,SNP,SNVindel,exonic,SEMA5A,NA,synonymous SNV,SEMA5A:NM_003966:exon19:c.C2526T:p.G842G,NA,NA,NA,NA,NA,NA
chr5,14297212,14297212,C,T,P270959_S,TRIO,Missense_Mutation,NM_007118,exon7,c.C1208T,p.S403L,SNP,SNVindel,exonic,TRIO,NA,nonsynonymous SNV,TRIO:NM_007118:exon7:c.C1208T:p.S403L,T,D,D,T,D,T
chr5,21817205,21817205,A,C,P270959_S,CDH12,Missense_Mutation,NM_001364109,exon4,c.T179G,p.I60S,SNP,SNVindel,exonic,CDH12,NA,nonsynonymous SNV,"CDH12:NM_001364109:exon4:c.T179G:p.I60S,CDH12:NM_001317227:exon6:c.T851G:p.I284S,CDH12:NM_001317228:exon6:c.T731G:p.I244S,CDH12:NM_001364107:exon7:c.T851G:p.I284S,CDH12:NM_001364108:exon7:c.T851G:p.I284S,CDH12:NM_001364104:exon8:c.T851G:p.I284S,CDH12:NM_001364106:exon9:c.T851G:p.I284S,CDH12:NM_004061:exon9:c.T851G:p.I284S,CDH12:NM_001364105:exon10:c.T851G:p.I284S",T,N,D,T,D,T
chr5,32088279,32088279,C,T,P270959_S,PDZD2,Silent,NM_178140,exon20,c.C4725T,p.D1575D,SNP,SNVindel,exonic,PDZD2,NA,synonymous SNV,PDZD2:NM_178140:exon20:c.C4725T:p.D1575D,NA,NA,NA,NA,NA,NA
chr5,33535015,33535015,T,G,P270959_S,ADAMTS12,Missense_Mutation,NM_001324512,exon21,c.A4274C,p.D1425A,SNP,SNVindel,exonic,ADAMTS12,NA,nonsynonymous SNV,"ADAMTS12:NM_001324512:exon21:c.A4274C:p.D1425A,ADAMTS12:NM_030955:exon23:c.A4529C:p.D1510A",T,N,N,T,D,T
chr5,33658333,33658333,C,T,P270959_S,ADAMTS12,Silent,NM_001324512,exon7,c.G1146A,p.S382S,SNP,SNVindel,exonic,ADAMTS12,NA,synonymous SNV,"ADAMTS12:NM_001324512:exon7:c.G1146A:p.S382S,ADAMTS12:NM_030955:exon7:c.G1146A:p.S382S",NA,NA,NA,NA,NA,NA
chr5,33881281,33881281,C,T,P270959_S,ADAMTS12,Silent,NM_001324511,exon2,c.G432A,p.T144T,SNP,SNVindel,exonic,ADAMTS12,NA,synonymous SNV,"ADAMTS12:NM_001324511:exon2:c.G432A:p.T144T,ADAMTS12:NM_001324512:exon2:c.G432A:p.T144T,ADAMTS12:NM_030955:exon2:c.G432A:p.T144T",NA,NA,NA,NA,NA,NA
chr5,36064400,36064400,G,A,P270959_S,UGT3A2,Silent,NM_174914,exon2,c.C147T,p.H49H,SNP,SNVindel,exonic,UGT3A2,NA,synonymous SNV,UGT3A2:NM_174914:exon2:c.C147T:p.H49H,NA,NA,NA,NA,NA,NA
chr5,36066890,36066890,A,G,P270959_S,UGT3A2,Translation_Start_Site,NM_001168316,exon1,c.T2C,p.M1?,SNP,SNVindel,exonic,UGT3A2,NA,startloss,"UGT3A2:NM_001168316:exon1:c.T2C:p.M1?,UGT3A2:NM_174914:exon1:c.T2C:p.M1?",D,U,D,T,N,T
chr5,41807470,41807470,C,T,P270959_S,OXCT1,Missense_Mutation,NM_001364303,exon4,c.G245A,p.R82H,SNP,SNVindel,exonic,OXCT1,NA,nonsynonymous SNV,"OXCT1:NM_001364303:exon4:c.G245A:p.R82H,OXCT1:NM_000436:exon8:c.G803A:p.R268H,OXCT1:NM_001364300:exon8:c.G824A:p.R275H,OXCT1:NM_001364301:exon8:c.G797A:p.R266H,OXCT1:NM_001364302:exon8:c.G803A:p.R268H,OXCT1:NM_001364299:exon9:c.G824A:p.R275H",D,N,D,T,D,D
chr5,43246015,43246015,G,A,P270959_S,NIM1K,Silent,NM_153361,exon2,c.G138A,p.T46T,SNP,SNVindel,exonic,NIM1K,NA,synonymous SNV,NIM1K:NM_153361:exon2:c.G138A:p.T46T,NA,NA,NA,NA,NA,NA
chr5,59481411,59481411,G,T,P270959_S,PDE4D,Silent,NM_001165899,exon2,c.C15A,p.T5T,SNP,SNVindel,exonic,PDE4D,NA,synonymous SNV,"PDE4D:NM_001165899:exon2:c.C15A:p.T5T,PDE4D:NM_001364599:exon2:c.C15A:p.T5T,PDE4D:NM_001364600:exon2:c.C15A:p.T5T",NA,NA,NA,NA,NA,NA
chr5,75427925,75427925,A,G,P270959_S,SV2C,Missense_Mutation,NM_001297716,exon2,c.A350G,p.Y117C,SNP,SNVindel,exonic,SV2C,NA,nonsynonymous SNV,"SV2C:NM_001297716:exon2:c.A350G:p.Y117C,SV2C:NM_014979:exon2:c.A350G:p.Y117C",T,N,N,T,N,T
chr5,76733214,76733214,C,T,P270959_S,WDR41,Missense_Mutation,NM_018268,exon11,c.G1040A,p.R347H,SNP,SNVindel,exonic,WDR41,NA,nonsynonymous SNV,WDR41:NM_018268:exon11:c.G1040A:p.R347H,D,D,D,T,D,D
chr5,92923700,92923700,G,A,P270959_S,NR2F1,Missense_Mutation,NM_005654,exon2,c.G541A,p.G181S,SNP,SNVindel,exonic,NR2F1,NA,nonsynonymous SNV,NR2F1:NM_005654:exon2:c.G541A:p.G181S,T,N,D,D,D,D
chr5,95728928,95728928,G,A,P270959_S,PCSK1,Missense_Mutation,NM_000439,exon14,c.C2039T,p.P680L,SNP,SNVindel,exonic,PCSK1,NA,nonsynonymous SNV,"PCSK1:NM_000439:exon14:c.C2039T:p.P680L,PCSK1:NM_001177875:exon14:c.C1898T:p.P633L",T,N,N,T,N,T
chr5,111481635,111481635,C,T,P270959_S,EPB41L4A,Missense_Mutation,NM_001347887,exon23,c.G1993A,p.A665T,SNP,SNVindel,exonic,EPB41L4A,NA,nonsynonymous SNV,EPB41L4A:NM_001347887:exon23:c.G1993A:p.A665T,NA,NA,NA,NA,NA,NA
chr5,130883783,130883783,C,T,P270959_S,RAPGEF6,Missense_Mutation,NM_001164386,exon6,c.G452A,p.R151H,SNP,SNVindel,exonic,RAPGEF6,NA,nonsynonymous SNV,"RAPGEF6:NM_001164386:exon6:c.G452A:p.R151H,RAPGEF6:NM_001164387:exon6:c.G452A:p.R151H,RAPGEF6:NM_001164388:exon6:c.G452A:p.R151H,RAPGEF6:NM_001164389:exon6:c.G452A:p.R151H,RAPGEF6:NM_001164390:exon6:c.G452A:p.R151H,RAPGEF6:NM_016340:exon6:c.G452A:p.R151H",D,D,N,T,N,T
chr5,133536123,133536123,C,T,P270959_S,PPP2CA,Missense_Mutation,NM_001355019,exon5,c.G446A,p.R149Q,SNP,SNVindel,exonic,PPP2CA,NA,nonsynonymous SNV,"PPP2CA:NM_001355019:exon5:c.G446A:p.R149Q,PPP2CA:NM_002715:exon5:c.G641A:p.R214Q",D,D,D,T,D,D
chr5,134705832,134705832,G,A,P270959_S,H2AFY,Missense_Mutation,NM_001040158,exon3,c.C173T,p.A58V,SNP,SNVindel,exonic,H2AFY,NA,nonsynonymous SNV,"H2AFY:NM_001040158:exon3:c.C173T:p.A58V,H2AFY:NM_004893:exon3:c.C173T:p.A58V,H2AFY:NM_138609:exon3:c.C173T:p.A58V,H2AFY:NM_138610:exon3:c.C173T:p.A58V",D,D,D,T,D,D
chr5,136324175,136324175,A,G,P270959_S,SPOCK1,Silent,NM_004598,exon8,c.T864C,p.C288C,SNP,SNVindel,exonic,SPOCK1,NA,synonymous SNV,SPOCK1:NM_004598:exon8:c.T864C:p.C288C,NA,NA,NA,NA,NA,NA
chr5,136328255,136328255,G,A,P270959_S,SPOCK1,Silent,NM_004598,exon7,c.C624T,p.S208S,SNP,SNVindel,exonic,SPOCK1,NA,synonymous SNV,SPOCK1:NM_004598:exon7:c.C624T:p.S208S,NA,NA,NA,NA,NA,NA
chr5,139889634,139889634,G,A,P270959_S,ANKHD1,Silent,NM_017747,exon22,c.G3972A,p.K1324K,SNP,SNVindel,exonic,ANKHD1;ANKHD1-EIF4EBP3,NA,synonymous SNV,"ANKHD1:NM_017747:exon22:c.G3972A:p.K1324K,ANKHD1-EIF4EBP3:NM_020690:exon22:c.G3972A:p.K1324K",NA,NA,NA,NA,NA,NA
chr5,140202639,140202639,C,T,P270959_S,PCDHA5,Missense_Mutation,NM_018908,exon1,c.C1279T,p.R427W,SNP,SNVindel,exonic,PCDHA5,NA,nonsynonymous SNV,"PCDHA5:NM_018908:exon1:c.C1279T:p.R427W,PCDHA5:NM_031501:exon1:c.C1279T:p.R427W",D,.,N,T,D,T
chr5,140255271,140255271,G,A,P270959_S,PCDHA12,Missense_Mutation,NM_018903,exon1,c.G214A,p.G72R,SNP,SNVindel,exonic,PCDHA12,NA,nonsynonymous SNV,"PCDHA12:NM_018903:exon1:c.G214A:p.G72R,PCDHA12:NM_031864:exon1:c.G214A:p.G72R",T,.,N,T,N,T
chr5,140553607,140553607,C,T,P270959_S,PCDHB7,Silent,NM_018940,exon1,c.C1191T,p.V397V,SNP,SNVindel,exonic,PCDHB7,NA,synonymous SNV,PCDHB7:NM_018940:exon1:c.C1191T:p.V397V,NA,NA,NA,NA,NA,NA
chr5,140559337,140559337,C,T,P270959_S,PCDHB8,Silent,NM_019120,exon1,c.C1722T,p.T574T,SNP,SNVindel,exonic,PCDHB8,NA,synonymous SNV,PCDHB8:NM_019120:exon1:c.C1722T:p.T574T,NA,NA,NA,NA,NA,NA
chr5,140589968,140589968,C,T,P270959_S,PCDHB12,Missense_Mutation,NM_018932,exon1,c.C1489T,p.H497Y,SNP,SNVindel,exonic,PCDHB12,NA,nonsynonymous SNV,PCDHB12:NM_018932:exon1:c.C1489T:p.H497Y,D,.,N,T,D,T
chr5,140699209,140699209,C,T,P270959_S,TAF7,Missense_Mutation,NM_005642,exon1,c.G403A,p.G135R,SNP,SNVindel,exonic,TAF7,NA,nonsynonymous SNV,TAF7:NM_005642:exon1:c.G403A:p.G135R,D,D,D,D,D,D
chr5,140725378,140725378,C,T,P270959_S,PCDHGA3,Missense_Mutation,NM_018916,exon1,c.C1778T,p.A593V,SNP,SNVindel,exonic,PCDHGA3,NA,nonsynonymous SNV,"PCDHGA3:NM_018916:exon1:c.C1778T:p.A593V,PCDHGA3:NM_032011:exon1:c.C1778T:p.A593V",D,U,D,T,D,D
chr5,140782613,140782613,C,T,P270959_S,PCDHGA9,Missense_Mutation,NM_018921,exon1,c.C94T,p.R32C,SNP,SNVindel,exonic,PCDHGA9,NA,nonsynonymous SNV,"PCDHGA9:NM_018921:exon1:c.C94T:p.R32C,PCDHGA9:NM_032089:exon1:c.C94T:p.R32C",.,.,D,T,.,.
chr5,140799044,140799044,C,T,P270959_S,PCDHGB7,Missense_Mutation,NM_018927,exon1,c.C1618T,p.P540S,SNP,SNVindel,exonic,PCDHGB7,NA,nonsynonymous SNV,"PCDHGB7:NM_018927:exon1:c.C1618T:p.P540S,PCDHGB7:NM_032101:exon1:c.C1618T:p.P540S",D,U,D,T,D,T
chr5,141517373,141517373,G,A,P270959_S,NDFIP1,Missense_Mutation,NM_030571,exon5,c.G445A,p.A149T,SNP,SNVindel,exonic,NDFIP1,NA,nonsynonymous SNV,NDFIP1:NM_030571:exon5:c.G445A:p.A149T,D,D,D,.,D,D
chr5,149435874,149435874,C,T,P270959_S,CSF1R,Missense_Mutation,NM_001288705,exon17,c.G2350A,p.V784M,SNP,SNVindel,exonic,CSF1R,NA,nonsynonymous SNV,"CSF1R:NM_001288705:exon17:c.G2350A:p.V784M,CSF1R:NM_005211:exon18:c.G2350A:p.V784M,CSF1R:NM_001349736:exon19:c.G2350A:p.V784M",D,D,D,D,N,D
chr5,149502730,149502730,G,A,P270959_S,PDGFRB,Silent,NM_001355016,exon14,c.C1866T,p.Y622Y,SNP,SNVindel,exonic,PDGFRB,NA,synonymous SNV,"PDGFRB:NM_001355016:exon14:c.C1866T:p.Y622Y,PDGFRB:NM_001355017:exon15:c.C1575T:p.Y525Y,PDGFRB:NM_002609:exon15:c.C2058T:p.Y686Y",NA,NA,NA,NA,NA,NA
chr5,149998089,149998089,G,A,P270959_S,SYNPO,Missense_Mutation,NM_001166208,exon2,c.G160A,p.D54N,SNP,SNVindel,exonic,SYNPO,NA,nonsynonymous SNV,"SYNPO:NM_001166208:exon2:c.G160A:p.D54N,SYNPO:NM_001166209:exon2:c.G160A:p.D54N",T,N,N,T,N,T
chr5,150911166,150911166,G,A,P270959_S,FAT2,Missense_Mutation,NM_001447,exon13,c.C9793T,p.R3265C,SNP,SNVindel,exonic,FAT2,NA,nonsynonymous SNV,FAT2:NM_001447:exon13:c.C9793T:p.R3265C,D,D,D,T,D,T
chr5,150911167,150911167,G,A,P270959_S,FAT2,Silent,NM_001447,exon13,c.C9792T,p.F3264F,SNP,SNVindel,exonic,FAT2,NA,synonymous SNV,FAT2:NM_001447:exon13:c.C9792T:p.F3264F,NA,NA,NA,NA,NA,NA
chr5,151131300,151131300,G,T,P270959_S,ATOX1,Missense_Mutation,NM_004045,exon2,c.C47A,p.A16D,SNP,SNVindel,exonic,ATOX1,NA,nonsynonymous SNV,ATOX1:NM_004045:exon2:c.C47A:p.A16D,D,D,D,D,D,D
chr5,156381441,156381441,G,T,P270959_S,TIMD4,Missense_Mutation,NM_001146726,exon2,c.C385A,p.L129M,SNP,SNVindel,exonic,TIMD4,NA,nonsynonymous SNV,"TIMD4:NM_001146726:exon2:c.C385A:p.L129M,TIMD4:NM_138379:exon2:c.C385A:p.L129M",D,N,N,T,N,T
chr5,156590194,156590194,G,A,P270959_S,FAM71B,Missense_Mutation,NM_130899,exon2,c.C1082T,p.A361V,SNP,SNVindel,exonic,FAM71B,NA,nonsynonymous SNV,FAM71B:NM_130899:exon2:c.C1082T:p.A361V,T,N,N,T,N,T
chr5,157078618,157078618,C,T,P270959_S,SOX30,Missense_Mutation,NM_007017,exon1,c.G469A,p.E157K,SNP,SNVindel,exonic,SOX30,NA,nonsynonymous SNV,"SOX30:NM_007017:exon1:c.G469A:p.E157K,SOX30:NM_178424:exon1:c.G469A:p.E157K",D,N,N,D,N,D
chr5,176305346,176305346,C,T,P270959_S,UNC5A,Silent,NM_133369,exon12,c.C1971T,p.H657H,SNP,SNVindel,exonic,UNC5A,NA,synonymous SNV,UNC5A:NM_133369:exon12:c.C1971T:p.H657H,NA,NA,NA,NA,NA,NA
chr5,176518739,176518739,C,T,P270959_S,FGFR4,Silent,NM_022963,exon5,c.C657T,p.R219R,SNP,SNVindel,exonic,FGFR4,NA,synonymous SNV,"FGFR4:NM_022963:exon5:c.C657T:p.R219R,FGFR4:NM_001291980:exon6:c.C657T:p.R219R,FGFR4:NM_001354984:exon6:c.C657T:p.R219R,FGFR4:NM_002011:exon6:c.C657T:p.R219R,FGFR4:NM_213647:exon6:c.C657T:p.R219R",NA,NA,NA,NA,NA,NA
chr5,176665503,176665503,C,T,P270959_S,NSD1,Missense_Mutation,NM_022455,exon7,c.C4187T,p.T1396M,SNP,SNVindel,exonic,NSD1,NA,nonsynonymous SNV,"NSD1:NM_022455:exon7:c.C4187T:p.T1396M,NSD1:NM_001365684:exon8:c.C3380T:p.T1127M,NSD1:NM_172349:exon8:c.C3380T:p.T1127M",D,N,N,D,N,D
chr5,176707727,176707727,A,G,P270959_S,NSD1,Silent,NM_022455,exon18,c.A5784G,p.G1928G,SNP,SNVindel,exonic,NSD1,NA,synonymous SNV,"NSD1:NM_022455:exon18:c.A5784G:p.G1928G,NSD1:NM_001365684:exon19:c.A4977G:p.G1659G,NSD1:NM_172349:exon19:c.A4977G:p.G1659G",NA,NA,NA,NA,NA,NA
chr5,176797998,176797998,A,G,P270959_S,RGS14,Missense_Mutation,NM_001366617,exon11,c.A1223G,p.H408R,SNP,SNVindel,exonic,RGS14,NA,nonsynonymous SNV,"RGS14:NM_001366617:exon11:c.A1223G:p.H408R,RGS14:NM_001366618:exon11:c.A1223G:p.H408R,RGS14:NM_006480:exon11:c.A1220G:p.H407R",D,D,D,T,D,T
chr5,177673423,177673423,G,A,P270959_S,COL23A1,Missense_Mutation,NM_173465,exon23,c.C1328T,p.A443V,SNP,SNVindel,exonic,COL23A1,NA,nonsynonymous SNV,COL23A1:NM_173465:exon23:c.C1328T:p.A443V,T,N,N,D,N,T
chr5,178460273,178460273,C,T,P270959_S,ZNF879,Missense_Mutation,NM_001353374,exon4,c.C1324T,p.R442W,SNP,SNVindel,exonic,ZNF879,NA,nonsynonymous SNV,"ZNF879:NM_001353374:exon4:c.C1324T:p.R442W,ZNF879:NM_001136116:exon5:c.C1324T:p.R442W,ZNF879:NM_001353372:exon5:c.C1324T:p.R442W,ZNF879:NM_001353373:exon5:c.C1324T:p.R442W",D,.,N,T,D,T
chr5,178555009,178555009,G,A,P270959_S,ADAMTS2,Silent,NM_014244,exon17,c.C2568T,p.Y856Y,SNP,SNVindel,exonic,ADAMTS2,NA,synonymous SNV,ADAMTS2:NM_014244:exon17:c.C2568T:p.Y856Y,NA,NA,NA,NA,NA,NA
chr5,179564646,179564646,G,A,P270959_S,RASGEF1C,Missense_Mutation,NM_175062,exon3,c.C244T,p.R82W,SNP,SNVindel,exonic,RASGEF1C,NA,nonsynonymous SNV,RASGEF1C:NM_175062:exon3:c.C244T:p.R82W,D,D,D,T,D,T
chr5,180219617,180219617,G,A,P270959_S,MGAT1,Missense_Mutation,NM_001114619,exon2,c.C355T,p.R119W,SNP,SNVindel,exonic,MGAT1,NA,nonsynonymous SNV,"MGAT1:NM_001114619:exon2:c.C355T:p.R119W,MGAT1:NM_001114620:exon2:c.C355T:p.R119W,MGAT1:NM_001364382:exon2:c.C355T:p.R119W,MGAT1:NM_001364383:exon2:c.C355T:p.R119W,MGAT1:NM_001364389:exon2:c.C355T:p.R119W,MGAT1:NM_001364390:exon2:c.C355T:p.R119W,MGAT1:NM_001364392:exon2:c.C355T:p.R119W,MGAT1:NM_002406:exon2:c.C355T:p.R119W,MGAT1:NM_001114617:exon3:c.C355T:p.R119W,MGAT1:NM_001114618:exon3:c.C355T:p.R119W,MGAT1:NM_001364377:exon3:c.C355T:p.R119W,MGAT1:NM_001364379:exon3:c.C355T:p.R119W,MGAT1:NM_001364380:exon3:c.C355T:p.R119W,MGAT1:NM_001364381:exon3:c.C355T:p.R119W,MGAT1:NM_001364384:exon3:c.C355T:p.R119W,MGAT1:NM_001364386:exon3:c.C355T:p.R119W,MGAT1:NM_001364387:exon3:c.C355T:p.R119W,MGAT1:NM_001364391:exon3:c.C355T:p.R119W,MGAT1:NM_001364393:exon3:c.C355T:p.R119W,MGAT1:NM_001364394:exon3:c.C355T:p.R119W,MGAT1:NM_001364395:exon3:c.C355T:p.R119W,MGAT1:NM_001364385:exon4:c.C355T:p.R119W,MGAT1:NM_001364388:exon4:c.C355T:p.R119W",D,N,D,D,D,D
chr6,12123103,12123103,G,A,P270959_S,HIVEP1,Silent,NM_002114,exon4,c.G3075A,p.T1025T,SNP,SNVindel,exonic,HIVEP1,NA,synonymous SNV,HIVEP1:NM_002114:exon4:c.G3075A:p.T1025T,NA,NA,NA,NA,NA,NA
chr6,12164360,12164360,G,A,P270959_S,HIVEP1,Missense_Mutation,NM_002114,exon9,c.G7823A,p.R2608Q,SNP,SNVindel,exonic,HIVEP1,NA,nonsynonymous SNV,HIVEP1:NM_002114:exon9:c.G7823A:p.R2608Q,T,N,N,T,N,T
chr6,16145286,16145286,C,T,P270959_S,MYLIP,Missense_Mutation,NM_013262,exon6,c.C986T,p.A329V,SNP,SNVindel,exonic,MYLIP,NA,nonsynonymous SNV,MYLIP:NM_013262:exon6:c.C986T:p.A329V,T,D,D,D,N,T
chr6,33634925,33634925,C,T,P270959_S,ITPR3,Missense_Mutation,NM_002224,exon15,c.C1571T,p.A524V,SNP,SNVindel,exonic,ITPR3,NA,nonsynonymous SNV,ITPR3:NM_002224:exon15:c.C1571T:p.A524V,D,D,D,D,D,D
chr6,38950178,38950178,T,C,P270959_S,DNAH8,Silent,NM_001371,exon85,c.T12240C,p.A4080A,SNP,SNVindel,exonic,DNAH8,NA,synonymous SNV,"DNAH8:NM_001371:exon85:c.T12240C:p.A4080A,DNAH8:NM_001206927:exon86:c.T12891C:p.A4297A",NA,NA,NA,NA,NA,NA
chr6,40399635,40399635,G,A,P270959_S,LRFN2,Silent,NM_020737,exon2,c.C1218T,p.S406S,SNP,SNVindel,exonic,LRFN2,NA,synonymous SNV,LRFN2:NM_020737:exon2:c.C1218T:p.S406S,NA,NA,NA,NA,NA,NA
chr6,41162419,41162419,T,C,P270959_S,TREML2,Missense_Mutation,NM_024807,exon3,c.A529G,p.R177G,SNP,SNVindel,exonic,TREML2,NA,nonsynonymous SNV,TREML2:NM_024807:exon3:c.A529G:p.R177G,D,N,N,T,N,T
chr6,42196191,42196191,G,A,P270959_S,TRERF1,Silent,NM_001297573,exon18,c.C3555T,p.D1185D,SNP,SNVindel,exonic,TRERF1,NA,synonymous SNV,"TRERF1:NM_001297573:exon18:c.C3555T:p.D1185D,TRERF1:NM_033502:exon18:c.C3495T:p.D1165D",NA,NA,NA,NA,NA,NA
chr6,43154008,43154008,C,A,P270959_S,CUL9,Missense_Mutation,NM_015089,exon4,c.C1066A,p.P356T,SNP,SNVindel,exonic,CUL9,NA,nonsynonymous SNV,CUL9:NM_015089:exon4:c.C1066A:p.P356T,D,N,D,T,N,T
chr6,43171181,43171181,T,C,P270959_S,CUL9,Silent,NM_015089,exon19,c.T3876C,p.G1292G,SNP,SNVindel,exonic,CUL9,NA,synonymous SNV,CUL9:NM_015089:exon19:c.T3876C:p.G1292G,NA,NA,NA,NA,NA,NA
chr6,45870921,45870921,G,A,P270959_S,CLIC5,Silent,NM_001114086,exon6,c.C1137T,p.N379N,SNP,SNVindel,exonic,CLIC5,NA,synonymous SNV,"CLIC5:NM_001114086:exon6:c.C1137T:p.N379N,CLIC5:NM_001370649:exon6:c.C543T:p.N181N,CLIC5:NM_016929:exon6:c.C660T:p.N220N,CLIC5:NM_001370650:exon7:c.C1137T:p.N379N",NA,NA,NA,NA,NA,NA
chr6,46424489,46424489,C,T,P270959_S,RCAN2,Silent,NM_001251973,exon2,c.G225A,p.K75K,SNP,SNVindel,exonic,RCAN2,NA,synonymous SNV,"RCAN2:NM_001251973:exon2:c.G225A:p.K75K,RCAN2:NM_001251974:exon2:c.G225A:p.K75K",NA,NA,NA,NA,NA,NA
chr6,56846640,56846640,C,A,P270959_S,BEND6,Missense_Mutation,NM_001318539,exon2,c.C32A,p.T11N,SNP,SNVindel,exonic,BEND6,NA,nonsynonymous SNV,"BEND6:NM_001318539:exon2:c.C32A:p.T11N,BEND6:NM_152731:exon2:c.C32A:p.T11N",D,N,N,.,D,T
chr6,65622472,65622472,C,T,P270959_S,EYS,Missense_Mutation,NM_001142800,exon16,c.G2546A,p.R849H,SNP,SNVindel,exonic,EYS,NA,nonsynonymous SNV,"EYS:NM_001142800:exon16:c.G2546A:p.R849H,EYS:NM_001292009:exon16:c.G2546A:p.R849H",T,N,N,D,N,T
chr6,79724851,79724851,A,G,P270959_S,PHIP,Missense_Mutation,NM_017934,exon15,c.T1472C,p.V491A,SNP,SNVindel,exonic,PHIP,NA,nonsynonymous SNV,PHIP:NM_017934:exon15:c.T1472C:p.V491A,T,D,D,T,D,T
chr6,83728712,83728712,G,A,P270959_S,UBE3D,Silent,NM_001350603,exon7,c.C429T,p.C143C,SNP,SNVindel,exonic,UBE3D,NA,synonymous SNV,"UBE3D:NM_001350603:exon7:c.C429T:p.C143C,UBE3D:NM_001304437:exon8:c.C894T:p.C298C,UBE3D:NM_198920:exon8:c.C990T:p.C330C,UBE3D:NM_001350602:exon9:c.C894T:p.C298C,UBE3D:NM_001350604:exon9:c.C429T:p.C143C",NA,NA,NA,NA,NA,NA
chr6,83849759,83849759,C,T,P270959_S,DOP1A,Missense_Mutation,NM_001199942,exon22,c.C5134T,p.L1712F,SNP,SNVindel,exonic,DOP1A,NA,nonsynonymous SNV,"DOP1A:NM_001199942:exon22:c.C5134T:p.L1712F,DOP1A:NM_015018:exon22:c.C5161T:p.L1721F",D,D,D,T,D,T
chr6,87969736,87969736,A,T,P270959_S,ZNF292,Missense_Mutation,NM_015021,exon8,c.A6389T,p.N2130I,SNP,SNVindel,exonic,ZNF292,NA,nonsynonymous SNV,"ZNF292:NM_015021:exon8:c.A6389T:p.N2130I,ZNF292:NM_001351444:exon9:c.A5969T:p.N1990I",D,D,D,T,D,T
chr6,90347523,90347523,G,A,P270959_S,LYRM2,Missense_Mutation,NM_020466,exon2,c.C124T,p.R42C,SNP,SNVindel,exonic,LYRM2,NA,nonsynonymous SNV,LYRM2:NM_020466:exon2:c.C124T:p.R42C,T,D,D,T,D,D
chr6,102516376,102516376,C,T,P270959_S,GRIK2,Missense_Mutation,NM_021956,exon16,c.C2717T,p.T906I,SNP,SNVindel,exonic,GRIK2,NA,nonsynonymous SNV,GRIK2:NM_021956:exon16:c.C2717T:p.T906I,D,D,D,T,N,T
chr6,118015304,118015304,C,T,P270959_S,NUS1,Missense_Mutation,NM_138459,exon3,c.C652T,p.P218S,SNP,SNVindel,exonic,NUS1,NA,nonsynonymous SNV,NUS1:NM_138459:exon3:c.C652T:p.P218S,T,N,N,T,N,T
chr6,138656308,138656308,G,A,P270959_S,ARFGEF3,Missense_Mutation,NM_020340,exon33,c.G6325A,p.A2109T,SNP,SNVindel,exonic,ARFGEF3,NA,nonsynonymous SNV,ARFGEF3:NM_020340:exon33:c.G6325A:p.A2109T,D,N,N,T,N,T
chr6,146276053,146276053,T,C,P270959_S,SHPRH,Missense_Mutation,NM_001042683,exon2,c.A406G,p.R136G,SNP,SNVindel,exonic,SHPRH,NA,nonsynonymous SNV,"SHPRH:NM_001042683:exon2:c.A406G:p.R136G,SHPRH:NM_001370327:exon2:c.A406G:p.R136G,SHPRH:NM_173082:exon2:c.A406G:p.R136G",D,D,D,T,N,T
chr6,161470796,161470796,G,A,P270959_S,MAP3K4,Missense_Mutation,NM_001301072,exon3,c.G1492A,p.E498K,SNP,SNVindel,exonic,MAP3K4,NA,nonsynonymous SNV,"MAP3K4:NM_001301072:exon3:c.G1492A:p.E498K,MAP3K4:NM_001363582:exon3:c.G1492A:p.E498K,MAP3K4:NM_005922:exon3:c.G1492A:p.E498K,MAP3K4:NM_006724:exon3:c.G1492A:p.E498K",T,N,N,T,N,T
chr6,167550182,167550182,G,A,P270959_S,CCR6,Missense_Mutation,NM_004367,exon3,c.G464A,p.R155Q,SNP,SNVindel,exonic,CCR6,NA,nonsynonymous SNV,"CCR6:NM_004367:exon3:c.G464A:p.R155Q,CCR6:NM_031409:exon3:c.G464A:p.R155Q",D,U,D,T,N,T
chr6,168312131,168312131,G,A,P270959_S,AFDN,Missense_Mutation,NM_001207008,exon14,c.G1951A,p.V651I,SNP,SNVindel,exonic,AFDN,NA,nonsynonymous SNV,"AFDN:NM_001207008:exon14:c.G1951A:p.V651I,AFDN:NM_001366321:exon14:c.G1957A:p.V653I,AFDN:NM_001040000:exon15:c.G1999A:p.V667I,AFDN:NM_001291964:exon15:c.G1876A:p.V626I,AFDN:NM_001366319:exon15:c.G1999A:p.V667I,AFDN:NM_001366320:exon15:c.G1999A:p.V667I",T,N,D,T,N,T
chr6,168999660,168999660,G,A,P270959_S,SMOC2,Missense_Mutation,NM_001166412,exon8,c.G800A,p.R267H,SNP,SNVindel,exonic,SMOC2,NA,nonsynonymous SNV,"SMOC2:NM_001166412:exon8:c.G800A:p.R267H,SMOC2:NM_022138:exon8:c.G833A:p.R278H",D,D,D,T,D,T
chr7,894593,894593,C,T,P270959_S,SUN1,Missense_Mutation,NM_001171944,exon9,c.C991T,p.R331C,SNP,SNVindel,exonic,SUN1,NA,nonsynonymous SNV,"SUN1:NM_001171944:exon9:c.C991T:p.R331C,SUN1:NM_001367708:exon10:c.C733T:p.R245C,SUN1:NM_025154:exon10:c.C1051T:p.R351C,SUN1:NM_001130965:exon11:c.C1300T:p.R434C,SUN1:NM_001367639:exon11:c.C841T:p.R281C,SUN1:NM_001367648:exon11:c.C1162T:p.R388C,SUN1:NM_001367660:exon11:c.C1117T:p.R373C,SUN1:NM_001367662:exon11:c.C1147T:p.R383C,SUN1:NM_001367670:exon11:c.C1150T:p.R384C,SUN1:NM_001367671:exon11:c.C1147T:p.R383C,SUN1:NM_001367686:exon11:c.C1132T:p.R378C,SUN1:NM_001367633:exon12:c.C1300T:p.R434C,SUN1:NM_001367642:exon12:c.C1285T:p.R429C,SUN1:NM_001367644:exon12:c.C1231T:p.R411C,SUN1:NM_001367645:exon12:c.C1261T:p.R421C,SUN1:NM_001367653:exon12:c.C1300T:p.R434C,SUN1:NM_001367658:exon12:c.C586T:p.R196C,SUN1:NM_001367665:exon12:c.C1297T:p.R433C,SUN1:NM_001367667:exon12:c.C1261T:p.R421C,SUN1:NM_001367669:exon12:c.C1327T:p.R443C,SUN1:NM_001367672:exon12:c.C1267T:p.R423C,SUN1:NM_001367679:exon12:c.C1258T:p.R420C,SUN1:NM_001367680:exon12:c.C1234T:p.R412C,SUN1:NM_001367681:exon12:c.C1348T:p.R450C,SUN1:NM_001367689:exon12:c.C1261T:p.R421C,SUN1:NM_001367694:exon12:c.C1297T:p.R433C,SUN1:NM_001367695:exon12:c.C1222T:p.R408C,SUN1:NM_001367701:exon12:c.C1201T:p.R401C,SUN1:NM_001367702:exon12:c.C1312T:p.R438C,SUN1:NM_001367704:exon12:c.C1312T:p.R438C,SUN1:NM_001367634:exon13:c.C1300T:p.R434C,SUN1:NM_001367635:exon13:c.C949T:p.R317C,SUN1:NM_001367638:exon13:c.C1408T:p.R470C,SUN1:NM_001367640:exon13:c.C1480T:p.R494C,SUN1:NM_001367646:exon13:c.C1429T:p.R477C,SUN1:NM_001367647:exon13:c.C1342T:p.R448C,SUN1:NM_001367649:exon13:c.C1345T:p.R449C,SUN1:NM_001367664:exon13:c.C1411T:p.R471C,SUN1:NM_001367668:exon13:c.C1342T:p.R448C,SUN1:NM_001367673:exon13:c.C1432T:p.R478C,SUN1:NM_001367674:exon13:c.C1498T:p.R500C,SUN1:NM_001367675:exon13:c.C1450T:p.R484C,SUN1:NM_001367676:exon13:c.C1483T:p.R495C,SUN1:NM_001367683:exon13:c.C1384T:p.R462C,SUN1:NM_001367684:exon13:c.C1459T:p.R487C,SUN1:NM_001367685:exon13:c.C1411T:p.R471C,SUN1:NM_001367688:exon13:c.C1381T:p.R461C,SUN1:NM_001367696:exon13:c.C1378T:p.R460C,SUN1:NM_001367700:exon13:c.C1510T:p.R504C,SUN1:NM_001367706:exon13:c.C1432T:p.R478C,SUN1:NM_001367636:exon14:c.C1540T:p.R514C,SUN1:NM_001367641:exon14:c.C1582T:p.R528C,SUN1:NM_001367643:exon14:c.C1492T:p.R498C,SUN1:NM_001367651:exon14:c.C1714T:p.R572C,SUN1:NM_001367655:exon14:c.C1510T:p.R504C,SUN1:NM_001367666:exon14:c.C1543T:p.R515C,SUN1:NM_001367677:exon14:c.C1606T:p.R536C,SUN1:NM_001367682:exon14:c.C1582T:p.R528C,SUN1:NM_001367690:exon14:c.C1591T:p.R531C,SUN1:NM_001367691:exon14:c.C1540T:p.R514C,SUN1:NM_001367692:exon14:c.C1609T:p.R537C,SUN1:NM_001367693:exon14:c.C1495T:p.R499C,SUN1:NM_001367697:exon14:c.C1495T:p.R499C,SUN1:NM_001367698:exon14:c.C1579T:p.R527C,SUN1:NM_001367678:exon15:c.C1690T:p.R564C,SUN1:NM_001367687:exon15:c.C1690T:p.R564C,SUN1:NM_001367699:exon15:c.C1690T:p.R564C,SUN1:NM_001367703:exon15:c.C1693T:p.R565C,SUN1:NM_001367705:exon15:c.C1693T:p.R565C",D,D,D,T,D,T
chr7,2108915,2108915,C,T,P270959_S,MAD1L1,Missense_Mutation,NM_001304524,exon10,c.G856A,p.G286S,SNP,SNVindel,exonic,MAD1L1,NA,nonsynonymous SNV,"MAD1L1:NM_001304524:exon10:c.G856A:p.G286S,MAD1L1:NM_001304523:exon11:c.G1132A:p.G378S,MAD1L1:NM_001013836:exon12:c.G1132A:p.G378S,MAD1L1:NM_001013837:exon12:c.G1132A:p.G378S,MAD1L1:NM_003550:exon12:c.G1132A:p.G378S",T,N,N,T,N,T
chr7,11676349,11676349,G,A,P270959_S,THSD7A,Missense_Mutation,NM_015204,exon2,c.C430T,p.L144F,SNP,SNVindel,exonic,THSD7A,NA,nonsynonymous SNV,THSD7A:NM_015204:exon2:c.C430T:p.L144F,T,U,N,T,N,T
chr7,12263989,12263989,G,A,P270959_S,TMEM106B,Missense_Mutation,NM_001134232,exon4,c.G419A,p.R140H,SNP,SNVindel,exonic,TMEM106B,NA,nonsynonymous SNV,"TMEM106B:NM_001134232:exon4:c.G419A:p.R140H,TMEM106B:NM_018374:exon5:c.G419A:p.R140H",T,N,N,T,N,T
chr7,17379046,17379046,G,T,P270959_S,AHR,Missense_Mutation,NM_001621,exon10,c.G1597T,p.D533Y,SNP,SNVindel,exonic,AHR,NA,nonsynonymous SNV,AHR:NM_001621:exon10:c.G1597T:p.D533Y,D,D,D,T,D,T
chr7,18631224,18631224,A,G,P270959_S,HDAC9,Silent,NM_001204147,exon4,c.A399G,p.G133G,SNP,SNVindel,exonic,HDAC9,NA,synonymous SNV,"HDAC9:NM_001204147:exon4:c.A399G:p.G133G,HDAC9:NM_001204148:exon4:c.A408G:p.G136G,HDAC9:NM_058176:exon4:c.A492G:p.G164G,HDAC9:NM_178425:exon4:c.A501G:p.G167G,HDAC9:NM_001204145:exon5:c.A492G:p.G164G,HDAC9:NM_001204146:exon5:c.A501G:p.G167G,HDAC9:NM_001321874:exon5:c.A501G:p.G167G,HDAC9:NM_001321875:exon5:c.A507G:p.G169G,HDAC9:NM_001321876:exon5:c.A501G:p.G167G,HDAC9:NM_001321877:exon5:c.A501G:p.G167G,HDAC9:NM_001321878:exon5:c.A492G:p.G164G,HDAC9:NM_001321879:exon5:c.A501G:p.G167G,HDAC9:NM_001321884:exon5:c.A501G:p.G167G,HDAC9:NM_001321885:exon5:c.A516G:p.G172G,HDAC9:NM_001321888:exon5:c.A492G:p.G164G,HDAC9:NM_001321890:exon5:c.A492G:p.G164G,HDAC9:NM_001321891:exon5:c.A492G:p.G164G,HDAC9:NM_001321895:exon5:c.A501G:p.G167G,HDAC9:NM_001321898:exon5:c.A516G:p.G172G,HDAC9:NM_001321900:exon5:c.A492G:p.G164G,HDAC9:NM_001321901:exon5:c.A501G:p.G167G,HDAC9:NM_001321902:exon5:c.A501G:p.G167G,HDAC9:NM_014707:exon5:c.A492G:p.G164G,HDAC9:NM_178423:exon5:c.A492G:p.G164G,HDAC9:NM_001321868:exon6:c.A558G:p.G186G,HDAC9:NM_001321869:exon6:c.A567G:p.G189G,HDAC9:NM_001321870:exon6:c.A558G:p.G186G,HDAC9:NM_001321871:exon6:c.A573G:p.G191G,HDAC9:NM_001321872:exon6:c.A567G:p.G189G,HDAC9:NM_001321873:exon6:c.A567G:p.G189G,HDAC9:NM_001321886:exon6:c.A399G:p.G133G,HDAC9:NM_001321887:exon6:c.A408G:p.G136G,HDAC9:NM_001321889:exon6:c.A408G:p.G136G,HDAC9:NM_001321893:exon6:c.A492G:p.G164G,HDAC9:NM_001321894:exon6:c.A501G:p.G167G,HDAC9:NM_001321896:exon6:c.A408G:p.G136G,HDAC9:NM_001321897:exon6:c.A501G:p.G167G,HDAC9:NM_001321899:exon6:c.A501G:p.G167G,HDAC9:NM_001204144:exon7:c.A618G:p.G206G",NA,NA,NA,NA,NA,NA
chr7,20782555,20782555,G,A,P270959_S,ABCB5,Missense_Mutation,NM_178559,exon16,c.G1745A,p.R582H,SNP,SNVindel,exonic,ABCB5,NA,nonsynonymous SNV,"ABCB5:NM_178559:exon16:c.G1745A:p.R582H,ABCB5:NM_001163941:exon25:c.G3080A:p.R1027H",D,D,D,D,D,D
chr7,23349013,23349013,G,T,P270959_S,MALSU1,Nonsense_Mutation,NM_138446,exon4,c.G556T,p.E186X,SNP,SNVindel,exonic,MALSU1,NA,stopgain,MALSU1:NM_138446:exon4:c.G556T:p.E186X,.,D,D,.,.,.
chr7,24874302,24874302,G,A,P270959_S,OSBPL3,Missense_Mutation,NM_145322,exon12,c.C1348T,p.P450S,SNP,SNVindel,exonic,OSBPL3,NA,nonsynonymous SNV,"OSBPL3:NM_145322:exon12:c.C1348T:p.P450S,OSBPL3:NM_145320:exon13:c.C1456T:p.P486S,OSBPL3:NM_145321:exon13:c.C1441T:p.P481S,OSBPL3:NM_015550:exon15:c.C1549T:p.P517S",D,D,D,T,D,T
chr7,28844102,28844102,C,T,P270959_S,CREB5,Missense_Mutation,NM_001011666,exon4,c.C572T,p.S191L,SNP,SNVindel,exonic,CREB5,NA,nonsynonymous SNV,"CREB5:NM_001011666:exon4:c.C572T:p.S191L,CREB5:NM_182899:exon7:c.C890T:p.S297L,CREB5:NM_004904:exon8:c.C968T:p.S323L,CREB5:NM_182898:exon8:c.C989T:p.S330L",D,D,D,T,N,T
chr7,30490847,30490847,C,T,P270959_S,NOD1,Missense_Mutation,NM_001354849,exon6,c.G2186A,p.R729H,SNP,SNVindel,exonic,NOD1,NA,nonsynonymous SNV,"NOD1:NM_001354849:exon6:c.G2186A:p.R729H,NOD1:NM_006092:exon6:c.G2186A:p.R729H",T,N,N,T,N,T
chr7,42085026,42085026,G,A,P270959_S,GLI3,Silent,NM_000168,exon6,c.C783T,p.A261A,SNP,SNVindel,exonic,GLI3,NA,synonymous SNV,GLI3:NM_000168:exon6:c.C783T:p.A261A,NA,NA,NA,NA,NA,NA
chr7,43918148,43918148,C,T,P270959_S,URGCP,Missense_Mutation,NM_017920,exon5,c.G887A,p.R296Q,SNP,SNVindel,exonic,URGCP,NA,nonsynonymous SNV,"URGCP:NM_017920:exon5:c.G887A:p.R296Q,URGCP:NM_001077663:exon6:c.G914A:p.R305Q,URGCP:NM_001077664:exon6:c.G785A:p.R262Q,URGCP:NM_001290075:exon6:c.G785A:p.R262Q,URGCP:NM_001290076:exon7:c.G785A:p.R262Q",D,D,D,T,D,T
chr7,44153489,44153489,C,T,P270959_S,AEBP1,Missense_Mutation,NM_001129,exon21,c.C3106T,p.R1036W,SNP,SNVindel,exonic,AEBP1,NA,nonsynonymous SNV,AEBP1:NM_001129:exon21:c.C3106T:p.R1036W,D,N,N,D,N,D
chr7,47479100,47479100,G,A,P270959_S,TNS3,Silent,NM_022748,exon6,c.C135T,p.H45H,SNP,SNVindel,exonic,TNS3,NA,synonymous SNV,TNS3:NM_022748:exon6:c.C135T:p.H45H,NA,NA,NA,NA,NA,NA
chr7,47944068,47944068,C,T,P270959_S,PKD1L1,Nonsense_Mutation,NM_138295,exon12,c.G1838A,p.W613X,SNP,SNVindel,exonic,PKD1L1,NA,stopgain,PKD1L1:NM_138295:exon12:c.G1838A:p.W613X,.,N,A,.,.,.
chr7,72754662,72754662,G,A,P270959_S,FKBP6,Missense_Mutation,NM_001281304,exon5,c.G521A,p.R174Q,SNP,SNVindel,exonic,FKBP6,NA,nonsynonymous SNV,"FKBP6:NM_001281304:exon5:c.G521A:p.R174Q,FKBP6:NM_001362789:exon5:c.G476A:p.R159Q,FKBP6:NM_001135211:exon6:c.G596A:p.R199Q,FKBP6:NM_003602:exon6:c.G611A:p.R204Q",T,N,N,T,N,T
chr7,73245868,73245868,G,A,P270959_S,CLDN4,Missense_Mutation,NM_001305,exon1,c.G337A,p.A113T,SNP,SNVindel,exonic,CLDN4,NA,nonsynonymous SNV,CLDN4:NM_001305:exon1:c.G337A:p.A113T,T,N,N,D,N,T
chr7,76826058,76826058,G,A,P270959_S,FGL2,Silent,NM_006682,exon2,c.C858T,p.N286N,SNP,SNVindel,exonic,FGL2,NA,synonymous SNV,FGL2:NM_006682:exon2:c.C858T:p.N286N,NA,NA,NA,NA,NA,NA
chr7,86415854,86415854,G,A,P270959_S,GRM3,Missense_Mutation,NM_000840,exon3,c.G746A,p.R249H,SNP,SNVindel,exonic,GRM3,NA,nonsynonymous SNV,"GRM3:NM_000840:exon3:c.G746A:p.R249H,GRM3:NM_001363522:exon3:c.G746A:p.R249H",D,D,D,D,N,D
chr7,87808373,87808373,G,A,P270959_S,ADAM22,Silent,NM_001324418,exon27,c.G2424A,p.S808S,SNP,SNVindel,exonic,ADAM22,NA,synonymous SNV,"ADAM22:NM_001324418:exon27:c.G2424A:p.S808S,ADAM22:NM_001324419:exon27:c.G2421A:p.S807S,ADAM22:NM_001324420:exon27:c.G2424A:p.S808S",NA,NA,NA,NA,NA,NA
chr7,94292879,94292879,G,A,P270959_S,PEG10,Missense_Mutation,NM_001040152,exon2,c.G11A,p.R4Q,SNP,SNVindel,exonic,PEG10,NA,nonsynonymous SNV,"PEG10:NM_001040152:exon2:c.G11A:p.R4Q,PEG10:NM_001172438:exon2:c.G239A:p.R80Q,PEG10:NM_001184962:exon2:c.G113A:p.R38Q",D,.,N,T,N,T
chr7,97860574,97860574,G,A,P270959_S,TECPR1,Missense_Mutation,NM_015395,exon14,c.C2086T,p.R696C,SNP,SNVindel,exonic,TECPR1,NA,nonsynonymous SNV,TECPR1:NM_015395:exon14:c.C2086T:p.R696C,T,N,D,T,D,T
chr7,99317998,99317998,C,T,P270959_S,CYP3A7,Missense_Mutation,NM_000765,exon4,c.G256A,p.D86N,SNP,SNVindel,exonic,CYP3A7;CYP3A7-CYP3A51P,NA,nonsynonymous SNV,"CYP3A7:NM_000765:exon4:c.G256A:p.D86N,CYP3A7-CYP3A51P:NM_001256497:exon4:c.G256A:p.D86N",D,D,D,T,D,D
chr7,100171679,100171679,C,T,P270959_S,ZASP,Silent,NM_001289933,exon1,c.G501A,p.P167P,SNP,SNVindel,exonic,ZASP,NA,synonymous SNV,ZASP:NM_001289933:exon1:c.G501A:p.P167P,NA,NA,NA,NA,NA,NA
chr7,100645769,100645769,G,A,P270959_S,MUC12,Silent,NM_001164462,exon2,c.G11925A,p.T3975T,SNP,SNVindel,exonic,MUC12,NA,synonymous SNV,MUC12:NM_001164462:exon2:c.G11925A:p.T3975T,NA,NA,NA,NA,NA,NA
chr7,102087052,102087052,C,T,P270959_S,ORAI2,Silent,NM_001271819,exon3,c.C87T,p.A29A,SNP,SNVindel,exonic,ORAI2,NA,synonymous SNV,"ORAI2:NM_001271819:exon3:c.C87T:p.A29A,ORAI2:NM_032831:exon3:c.C318T:p.A106A,ORAI2:NM_001126340:exon4:c.C318T:p.A106A,ORAI2:NM_001271818:exon4:c.C318T:p.A106A",NA,NA,NA,NA,NA,NA
chr7,102604046,102604046,G,A,P270959_S,FBXL13,Missense_Mutation,NM_001111038,exon8,c.C658T,p.R220C,SNP,SNVindel,exonic,FBXL13,NA,nonsynonymous SNV,"FBXL13:NM_001111038:exon8:c.C658T:p.R220C,FBXL13:NM_001287150:exon8:c.C658T:p.R220C,FBXL13:NM_145032:exon8:c.C658T:p.R220C",D,D,D,T,D,T
chr7,107336397,107336397,G,T,P270959_S,SLC26A4,Missense_Mutation,NM_000441,exon13,c.G1457T,p.C486F,SNP,SNVindel,exonic,SLC26A4,NA,nonsynonymous SNV,SLC26A4:NM_000441:exon13:c.G1457T:p.C486F,T,D,D,D,D,D
chr7,107596022,107596022,C,T,P270959_S,LAMB1,Missense_Mutation,NM_002291,exon21,c.G2744A,p.R915H,SNP,SNVindel,exonic,LAMB1,NA,nonsynonymous SNV,LAMB1:NM_002291:exon21:c.G2744A:p.R915H,D,.,D,T,D,D
chr7,128494569,128494569,G,A,P270959_S,FLNC,Missense_Mutation,NM_001127487,exon40,c.G6731A,p.R2244H,SNP,SNVindel,exonic,FLNC,NA,nonsynonymous SNV,"FLNC:NM_001127487:exon40:c.G6731A:p.R2244H,FLNC:NM_001458:exon41:c.G6830A:p.R2277H",T,D,D,D,D,D
chr7,132169593,132169593,T,C,P270959_S,PLXNA4,Silent,NM_181775,exon5,c.A1551G,p.V517V,SNP,SNVindel,exonic,PLXNA4,NA,synonymous SNV,PLXNA4:NM_181775:exon5:c.A1551G:p.V517V,NA,NA,NA,NA,NA,NA
chr7,142570171,142570171,C,T,P270959_S,TRPV6,Missense_Mutation,NM_018646,exon14,c.G1969A,p.G657R,SNP,SNVindel,exonic,TRPV6,NA,nonsynonymous SNV,TRPV6:NM_018646:exon14:c.G1969A:p.G657R,D,D,D,T,D,D
chr7,142643320,142643320,C,T,P270959_S,KEL,Missense_Mutation,NM_000420,exon11,c.G1288A,p.A430T,SNP,SNVindel,exonic,KEL,NA,nonsynonymous SNV,KEL:NM_000420:exon11:c.G1288A:p.A430T,T,N,N,D,N,T
chr7,143085598,143085598,C,T,P270959_S,ZYX,Silent,NM_001362783,exon6,c.C1068T,p.C356C,SNP,SNVindel,exonic,ZYX,NA,synonymous SNV,"ZYX:NM_001362783:exon6:c.C1068T:p.C356C,ZYX:NM_001010972:exon7:c.C1161T:p.C387C,ZYX:NM_003461:exon7:c.C1161T:p.C387C",NA,NA,NA,NA,NA,NA
chr7,149171666,149171666,G,A,P270959_S,ZNF746,Missense_Mutation,NM_001163474,exon7,c.C1747T,p.R583C,SNP,SNVindel,exonic,ZNF746,NA,nonsynonymous SNV,"ZNF746:NM_001163474:exon7:c.C1747T:p.R583C,ZNF746:NM_001363517:exon7:c.C1789T:p.R597C,ZNF746:NM_152557:exon7:c.C1744T:p.R582C",T,D,D,T,N,T
chr7,150647303,150647303,C,T,P270959_S,KCNH2,Missense_Mutation,NM_001204798,exon5,c.G1331A,p.R444Q,SNP,SNVindel,exonic,KCNH2,NA,nonsynonymous SNV,"KCNH2:NM_001204798:exon5:c.G1331A:p.R444Q,KCNH2:NM_172057:exon5:c.G1331A:p.R444Q,KCNH2:NM_000238:exon9:c.G2351A:p.R784Q,KCNH2:NM_172056:exon9:c.G2351A:p.R784Q",D,D,D,D,D,D
chr7,150746054,150746054,G,A,P270959_S,ASIC3,Missense_Mutation,NM_004769,exon1,c.G82A,p.G28R,SNP,SNVindel,exonic,ASIC3,NA,nonsynonymous SNV,"ASIC3:NM_004769:exon1:c.G82A:p.G28R,ASIC3:NM_020321:exon1:c.G82A:p.G28R,ASIC3:NM_020322:exon1:c.G82A:p.G28R",D,U,D,T,D,D
chr7,150776670,150776670,T,A,P270959_S,FASTK,Missense_Mutation,NM_001258461,exon2,c.A422T,p.D141V,SNP,SNVindel,exonic,FASTK,NA,nonsynonymous SNV,"FASTK:NM_001258461:exon2:c.A422T:p.D141V,FASTK:NM_006712:exon2:c.A422T:p.D141V",T,N,D,T,N,T
chr7,150817156,150817156,G,A,P270959_S,AGAP3,Missense_Mutation,NM_001042535,exon8,c.G1052A,p.R351H,SNP,SNVindel,exonic,AGAP3,NA,nonsynonymous SNV,"AGAP3:NM_001042535:exon8:c.G1052A:p.R351H,AGAP3:NM_001281300:exon8:c.G368A:p.R123H,AGAP3:NM_001308305:exon8:c.G1592A:p.R531H,AGAP3:NM_001350102:exon8:c.G1052A:p.R351H,AGAP3:NM_031946:exon8:c.G1052A:p.R351H",T,U,D,T,N,T
chr7,152522194,152522194,G,A,P270959_S,ACTR3B,Missense_Mutation,NM_001350943,exon7,c.G674A,p.R225H,SNP,SNVindel,exonic,ACTR3B,NA,nonsynonymous SNV,"ACTR3B:NM_001350943:exon7:c.G674A:p.R225H,ACTR3B:NM_001350940:exon8:c.G674A:p.R225H,ACTR3B:NM_001350941:exon8:c.G674A:p.R225H,ACTR3B:NM_001350946:exon8:c.G674A:p.R225H,ACTR3B:NM_001040135:exon9:c.G938A:p.R313H,ACTR3B:NM_001350942:exon9:c.G674A:p.R225H,ACTR3B:NM_001350944:exon9:c.G938A:p.R313H,ACTR3B:NM_001350945:exon9:c.G551A:p.R184H,ACTR3B:NM_020445:exon9:c.G938A:p.R313H",D,U,D,T,D,T
chr8,2037867,2037867,G,A,P270959_S,MYOM2,Missense_Mutation,NM_003970,exon15,c.G1681A,p.A561T,SNP,SNVindel,exonic,MYOM2,NA,nonsynonymous SNV,MYOM2:NM_003970:exon15:c.G1681A:p.A561T,T,D,D,T,N,T
chr8,4494966,4494966,C,T,P270959_S,CSMD1,Missense_Mutation,NM_033225,exon2,c.G200A,p.R67H,SNP,SNVindel,exonic,CSMD1,NA,nonsynonymous SNV,CSMD1:NM_033225:exon2:c.G200A:p.R67H,T,.,N,T,N,T
chr8,18393374,18393374,G,A,P270959_S,PSD3,Missense_Mutation,NM_206909,exon13,c.C1421T,p.S474L,SNP,SNVindel,exonic,PSD3,NA,nonsynonymous SNV,"PSD3:NM_206909:exon13:c.C1421T:p.S474L,PSD3:NM_001362819:exon15:c.C2924T:p.S975L,PSD3:NM_015310:exon16:c.C3023T:p.S1008L",D,U,D,T,D,T
chr8,19316022,19316022,G,T,P270959_S,CSGALNACT1,Missense_Mutation,NM_001354497,exon3,c.C766A,p.L256I,SNP,SNVindel,exonic,CSGALNACT1,NA,nonsynonymous SNV,"CSGALNACT1:NM_001354497:exon3:c.C766A:p.L256I,CSGALNACT1:NM_001354476:exon4:c.C766A:p.L256I,CSGALNACT1:NM_001354483:exon4:c.C766A:p.L256I,CSGALNACT1:NM_001354490:exon4:c.C766A:p.L256I,CSGALNACT1:NM_001354492:exon4:c.C766A:p.L256I,CSGALNACT1:NM_001130518:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354475:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354477:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354481:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354484:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354485:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354487:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354488:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354489:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354494:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354495:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354496:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354498:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354499:exon5:c.C766A:p.L256I,CSGALNACT1:NM_018371:exon5:c.C766A:p.L256I,CSGALNACT1:NM_001354480:exon6:c.C766A:p.L256I,CSGALNACT1:NM_001354491:exon6:c.C766A:p.L256I",T,N,D,T,N,T
chr8,21767339,21767339,G,T,P270959_S,DOK2,Missense_Mutation,NM_001317800,exon3,c.C260A,p.A87D,SNP,SNVindel,exonic,DOK2,NA,nonsynonymous SNV,"DOK2:NM_001317800:exon3:c.C260A:p.A87D,DOK2:NM_201349:exon4:c.C260A:p.A87D,DOK2:NM_003974:exon5:c.C722A:p.A241D",D,D,D,D,D,D
chr8,21844747,21844747,G,A,P270959_S,XPO7,Missense_Mutation,NM_001362802,exon13,c.G1607A,p.R536H,SNP,SNVindel,exonic,XPO7,NA,nonsynonymous SNV,"XPO7:NM_001362802:exon13:c.G1607A:p.R536H,XPO7:NM_001100161:exon14:c.G1700A:p.R567H,XPO7:NM_015024:exon14:c.G1673A:p.R558H",D,D,D,T,D,T
chr8,22473074,22473074,G,A,P270959_S,CCAR2,Missense_Mutation,NM_001363068,exon12,c.G1342A,p.A448T,SNP,SNVindel,exonic,CCAR2,NA,nonsynonymous SNV,"CCAR2:NM_001363068:exon12:c.G1342A:p.A448T,CCAR2:NM_001363069:exon12:c.G1342A:p.A448T,CCAR2:NM_021174:exon12:c.G1342A:p.A448T",T,N,N,T,N,T
chr8,27288461,27288461,C,T,P270959_S,PTK2B,Silent,NM_173175,exon8,c.C738T,p.C246C,SNP,SNVindel,exonic,PTK2B,NA,synonymous SNV,"PTK2B:NM_173175:exon8:c.C738T:p.C246C,PTK2B:NM_173176:exon8:c.C738T:p.C246C,PTK2B:NM_004103:exon9:c.C738T:p.C246C,PTK2B:NM_173174:exon13:c.C738T:p.C246C",NA,NA,NA,NA,NA,NA
chr8,28196933,28196933,G,A,P270959_S,PNOC,Missense_Mutation,NM_001284244,exon2,c.G311A,p.R104H,SNP,SNVindel,exonic,PNOC,NA,nonsynonymous SNV,"PNOC:NM_001284244:exon2:c.G311A:p.R104H,PNOC:NM_006228:exon3:c.G503A:p.R168H",D,N,D,T,N,D
chr8,28827943,28827943,G,A,P270959_S,HMBOX1,Missense_Mutation,NM_001135726,exon3,c.G407A,p.R136H,SNP,SNVindel,exonic,HMBOX1,NA,nonsynonymous SNV,"HMBOX1:NM_001135726:exon3:c.G407A:p.R136H,HMBOX1:NM_001324382:exon3:c.G407A:p.R136H,HMBOX1:NM_001324383:exon3:c.G407A:p.R136H,HMBOX1:NM_001324384:exon3:c.G407A:p.R136H,HMBOX1:NM_001324385:exon3:c.G407A:p.R136H,HMBOX1:NM_001324386:exon3:c.G407A:p.R136H,HMBOX1:NM_001324387:exon3:c.G407A:p.R136H,HMBOX1:NM_001324388:exon3:c.G407A:p.R136H,HMBOX1:NM_001324389:exon3:c.G407A:p.R136H,HMBOX1:NM_001324390:exon3:c.G407A:p.R136H,HMBOX1:NM_001324391:exon3:c.G407A:p.R136H,HMBOX1:NM_001324392:exon3:c.G407A:p.R136H,HMBOX1:NM_001324394:exon3:c.G407A:p.R136H,HMBOX1:NM_001324395:exon3:c.G407A:p.R136H,HMBOX1:NM_001330498:exon3:c.G407A:p.R136H,HMBOX1:NM_001324393:exon4:c.G407A:p.R136H,HMBOX1:NM_024567:exon4:c.G407A:p.R136H",T,D,D,T,N,T
chr8,28929767,28929767,C,T,P270959_S,KIF13B,Missense_Mutation,NM_015254,exon39,c.G4588A,p.D1530N,SNP,SNVindel,exonic,KIF13B,NA,nonsynonymous SNV,KIF13B:NM_015254:exon39:c.G4588A:p.D1530N,D,N,N,T,N,T
chr8,33451220,33451220,C,T,P270959_S,DUSP26,Silent,NM_001305116,exon2,c.G267A,p.T89T,SNP,SNVindel,exonic,DUSP26,NA,synonymous SNV,"DUSP26:NM_001305116:exon2:c.G267A:p.T89T,DUSP26:NM_001305115:exon3:c.G267A:p.T89T,DUSP26:NM_024025:exon3:c.G267A:p.T89T",NA,NA,NA,NA,NA,NA
chr8,37555815,37555815,C,T,P270959_S,ZNF703,Missense_Mutation,NM_025069,exon2,c.C1396T,p.P466S,SNP,SNVindel,exonic,ZNF703,NA,nonsynonymous SNV,ZNF703:NM_025069:exon2:c.C1396T:p.P466S,T,D,D,T,D,T
chr8,37914777,37914777,C,T,P270959_S,EIF4EBP1,Silent,NM_004095,exon2,c.C324T,p.G108G,SNP,SNVindel,exonic,EIF4EBP1,NA,synonymous SNV,EIF4EBP1:NM_004095:exon2:c.C324T:p.G108G,NA,NA,NA,NA,NA,NA
chr8,38139034,38139034,C,T,P270959_S,NSD3,Missense_Mutation,NM_023034,exon20,c.G3569A,p.R1190Q,SNP,SNVindel,exonic,NSD3,NA,nonsynonymous SNV,NSD3:NM_023034:exon20:c.G3569A:p.R1190Q,T,U,D,T,N,T
chr8,41573332,41573332,G,A,P270959_S,ANK1,Silent,NM_000037,exon14,c.C1440T,p.I480I,SNP,SNVindel,exonic,ANK1,NA,synonymous SNV,"ANK1:NM_000037:exon14:c.C1440T:p.I480I,ANK1:NM_001142446:exon14:c.C1539T:p.I513I,ANK1:NM_020475:exon14:c.C1440T:p.I480I,ANK1:NM_020476:exon14:c.C1440T:p.I480I,ANK1:NM_020477:exon14:c.C1440T:p.I480I",NA,NA,NA,NA,NA,NA
chr8,48733292,48733292,C,T,P270959_S,PRKDC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PRKDC,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr8,55060085,55060085,C,T,P270959_S,MRPL15,Nonsense_Mutation,NM_014175,exon5,c.C697T,p.R233X,SNP,SNVindel,exonic,MRPL15,NA,stopgain,MRPL15:NM_014175:exon5:c.C697T:p.R233X,.,D,D,.,.,.
chr8,67970439,67970439,C,T,P270959_S,COPS5,Missense_Mutation,NM_006837,exon3,c.G386A,p.R129H,SNP,SNVindel,exonic,COPS5,NA,nonsynonymous SNV,COPS5:NM_006837:exon3:c.G386A:p.R129H,D,D,D,T,D,D
chr8,71036158,71036158,G,A,P270959_S,NCOA2,Silent,NM_001321711,exon20,c.C4047T,p.S1349S,SNP,SNVindel,exonic,NCOA2,NA,synonymous SNV,"NCOA2:NM_001321711:exon20:c.C4047T:p.S1349S,NCOA2:NM_001321712:exon20:c.C4047T:p.S1349S,NCOA2:NM_001321713:exon20:c.C3792T:p.S1264S,NCOA2:NM_001321703:exon21:c.C4254T:p.S1418S,NCOA2:NM_001321707:exon21:c.C4254T:p.S1418S,NCOA2:NM_006540:exon21:c.C4254T:p.S1418S",NA,NA,NA,NA,NA,NA
chr8,72156862,72156862,T,C,P270959_S,EYA1,Silent,NM_172058,exon11,c.A1116G,p.T372T,SNP,SNVindel,exonic,EYA1,NA,synonymous SNV,"EYA1:NM_172058:exon11:c.A1116G:p.T372T,EYA1:NM_000503:exon12:c.A1116G:p.T372T,EYA1:NM_001288574:exon12:c.A1098G:p.T366T,EYA1:NM_001288575:exon12:c.A750G:p.T250T,EYA1:NM_001370333:exon13:c.A1203G:p.T401T,EYA1:NM_001370334:exon14:c.A1116G:p.T372T,EYA1:NM_001370335:exon15:c.A1116G:p.T372T",NA,NA,NA,NA,NA,NA
chr8,74464498,74464498,G,A,P270959_S,STAU2,Missense_Mutation,NM_001164383,exon8,c.C763T,p.R255C,SNP,SNVindel,exonic,STAU2,NA,nonsynonymous SNV,"STAU2:NM_001164383:exon8:c.C763T:p.R255C,STAU2:NM_001164385:exon10:c.C1165T:p.R389C,STAU2:NM_001164382:exon11:c.C967T:p.R323C,STAU2:NM_001164384:exon11:c.C1183T:p.R395C,STAU2:NM_001164381:exon12:c.C1183T:p.R395C,STAU2:NM_014393:exon12:c.C1183T:p.R395C,STAU2:NM_001164380:exon13:c.C1279T:p.R427C",D,D,D,T,D,T
chr8,82441717,82441717,C,A,P270959_S,FABP12,Nonsense_Mutation,NM_001105281,exon2,c.G202T,p.G68X,SNP,SNVindel,exonic,FABP12,NA,stopgain,FABP12:NM_001105281:exon2:c.G202T:p.G68X,.,N,A,.,.,.
chr8,98155324,98155324,T,C,P270959_S,CPQ,Silent,NM_016134,exon8,c.T1332C,p.D444D,SNP,SNVindel,exonic,CPQ,NA,synonymous SNV,CPQ:NM_016134:exon8:c.T1332C:p.D444D,NA,NA,NA,NA,NA,NA
chr8,99019387,99019387,C,T,P270959_S,MATN2,Missense_Mutation,NM_001317748,exon8,c.C1259T,p.T420M,SNP,SNVindel,exonic,MATN2,NA,nonsynonymous SNV,"MATN2:NM_001317748:exon8:c.C1259T:p.T420M,MATN2:NM_002380:exon9:c.C1382T:p.T461M,MATN2:NM_030583:exon9:c.C1382T:p.T461M",D,D,D,D,N,D
chr8,99440341,99440341,G,A,P270959_S,KCNS2,Missense_Mutation,NM_020697,exon2,c.G134A,p.R45H,SNP,SNVindel,exonic,KCNS2,NA,nonsynonymous SNV,KCNS2:NM_020697:exon2:c.G134A:p.R45H,D,D,D,T,D,D
chr8,100168820,100168820,G,A,P270959_S,VPS13B,Missense_Mutation,NM_015243,exon15,c.G2057A,p.R686Q,SNP,SNVindel,exonic,VPS13B,NA,nonsynonymous SNV,"VPS13B:NM_015243:exon15:c.G2057A:p.R686Q,VPS13B:NM_017890:exon15:c.G2057A:p.R686Q,VPS13B:NM_152564:exon15:c.G2057A:p.R686Q",T,D,D,T,N,T
chr8,100977647,100977647,T,C,P270959_S,RGS22,Silent,NM_001286693,exon22,c.A2988G,p.K996K,SNP,SNVindel,exonic,RGS22,NA,synonymous SNV,"RGS22:NM_001286693:exon22:c.A2988G:p.K996K,RGS22:NM_001286692:exon24:c.A3495G:p.K1165K,RGS22:NM_015668:exon24:c.A3531G:p.K1177K",NA,NA,NA,NA,NA,NA
chr8,104412767,104412767,C,A,P270959_S,SLC25A32,Missense_Mutation,NM_030780,exon7,c.G820T,p.G274C,SNP,SNVindel,exonic,SLC25A32,NA,nonsynonymous SNV,SLC25A32:NM_030780:exon7:c.G820T:p.G274C,D,D,D,D,D,D
chr8,124265917,124265917,C,T,P270959_S,ZHX1,Missense_Mutation,NM_001017926,exon3,c.G2270A,p.R757H,SNP,SNVindel,exonic,ZHX1,NA,nonsynonymous SNV,"ZHX1:NM_001017926:exon3:c.G2270A:p.R757H,ZHX1:NM_007222:exon3:c.G2270A:p.R757H",D,D,D,T,N,T
chr8,125565583,125565583,G,A,P270959_S,MTSS1,Missense_Mutation,NM_001363300,exon13,c.C1723T,p.R575W,SNP,SNVindel,exonic,MTSS1,NA,nonsynonymous SNV,"MTSS1:NM_001363300:exon13:c.C1723T:p.R575W,MTSS1:NM_001363301:exon13:c.C1720T:p.R574W,MTSS1:NM_001363302:exon13:c.C1672T:p.R558W,MTSS1:NM_001282974:exon14:c.C1843T:p.R615W,MTSS1:NM_001363294:exon14:c.C1915T:p.R639W,MTSS1:NM_001363295:exon14:c.C1867T:p.R623W,MTSS1:NM_001363298:exon14:c.C1840T:p.R614W,MTSS1:NM_001363299:exon14:c.C1735T:p.R579W,MTSS1:NM_014751:exon14:c.C1918T:p.R640W,MTSS1:NM_001282971:exon15:c.C1930T:p.R644W,MTSS1:NM_001363296:exon15:c.C1855T:p.R619W,MTSS1:NM_001363297:exon15:c.C1852T:p.R618W",T,N,N,T,N,T
chr8,130789733,130789733,C,T,P270959_S,GSDMC,Missense_Mutation,NM_031415,exon2,c.G101A,p.R34H,SNP,SNVindel,exonic,GSDMC,NA,nonsynonymous SNV,GSDMC:NM_031415:exon2:c.G101A:p.R34H,T,N,N,T,N,T
chr8,131955667,131955667,G,A,P270959_S,ADCY8,Missense_Mutation,NM_001115,exon4,c.C1283T,p.T428M,SNP,SNVindel,exonic,ADCY8,NA,nonsynonymous SNV,ADCY8:NM_001115:exon4:c.C1283T:p.T428M,T,D,D,D,N,T
chr8,133187703,133187703,G,A,P270959_S,KCNQ3,Silent,NM_001204824,exon5,c.C570T,p.G190G,SNP,SNVindel,exonic,KCNQ3,NA,synonymous SNV,"KCNQ3:NM_001204824:exon5:c.C570T:p.G190G,KCNQ3:NM_004519:exon5:c.C930T:p.G310G",NA,NA,NA,NA,NA,NA
chr8,133925498,133925498,G,A,P270959_S,TG,Missense_Mutation,NM_003235,exon20,c.G4366A,p.G1456R,SNP,SNVindel,exonic,TG,NA,nonsynonymous SNV,TG:NM_003235:exon20:c.G4366A:p.G1456R,T,N,N,D,N,T
chr8,134474174,134474174,G,A,P270959_S,ST3GAL1,Nonsense_Mutation,NM_003033,exon8,c.C793T,p.R265X,SNP,SNVindel,exonic,ST3GAL1,NA,stopgain,"ST3GAL1:NM_003033:exon8:c.C793T:p.R265X,ST3GAL1:NM_173344:exon9:c.C793T:p.R265X",.,D,A,.,.,.
chr8,143546222,143546222,C,T,P270959_S,ADGRB1,Silent,NM_001702,exon2,c.C663T,p.G221G,SNP,SNVindel,exonic,ADGRB1,NA,synonymous SNV,ADGRB1:NM_001702:exon2:c.C663T:p.G221G,NA,NA,NA,NA,NA,NA
chr8,143996314,143996314,T,C,P270959_S,CYP11B2,Silent,NM_000498,exon4,c.A606G,p.L202L,SNP,SNVindel,exonic,CYP11B2,NA,synonymous SNV,CYP11B2:NM_000498:exon4:c.A606G:p.L202L,NA,NA,NA,NA,NA,NA
chr8,144463793,144463793,G,A,P270959_S,RHPN1,Missense_Mutation,NM_052924,exon13,c.G1540A,p.V514I,SNP,SNVindel,exonic,RHPN1,NA,nonsynonymous SNV,RHPN1:NM_052924:exon13:c.G1540A:p.V514I,T,N,N,T,N,T
chr8,144660026,144660026,G,A,P270959_S,NAPRT,Missense_Mutation,NM_001286829,exon2,c.C314T,p.T105M,SNP,SNVindel,exonic,NAPRT,NA,nonsynonymous SNV,"NAPRT:NM_001286829:exon2:c.C314T:p.T105M,NAPRT:NM_001363145:exon2:c.C314T:p.T105M,NAPRT:NM_145201:exon2:c.C314T:p.T105M",D,D,D,T,D,T
chr8,144946704,144946704,C,T,P270959_S,EPPK1,Missense_Mutation,NM_031308,exon2,c.G718A,p.G240R,SNP,SNVindel,exonic,EPPK1,NA,nonsynonymous SNV,EPPK1:NM_031308:exon2:c.G718A:p.G240R,.,.,N,.,.,T
chr8,144995358,144995358,C,A,P270959_S,PLEC,Silent,NM_201378,exon32,c.G8589T,p.T2863T,SNP,SNVindel,exonic,PLEC,NA,synonymous SNV,"PLEC:NM_201378:exon32:c.G8589T:p.T2863T,PLEC:NM_201379:exon32:c.G8565T:p.T2855T,PLEC:NM_201380:exon32:c.G9042T:p.T3014T,PLEC:NM_201381:exon32:c.G8535T:p.T2845T,PLEC:NM_201382:exon32:c.G8631T:p.T2877T,PLEC:NM_201383:exon32:c.G8643T:p.T2881T,PLEC:NM_201384:exon32:c.G8631T:p.T2877T,PLEC:NM_000445:exon33:c.G8712T:p.T2904T",NA,NA,NA,NA,NA,NA
chr8,145161062,145161062,C,T,P270959_S,MAF1,Missense_Mutation,NM_032272,exon4,c.C296T,p.T99M,SNP,SNVindel,exonic,MAF1,NA,nonsynonymous SNV,MAF1:NM_032272:exon4:c.C296T:p.T99M,D,D,D,T,D,T
chr8,145577133,145577133,C,T,P270959_S,TMEM249,Missense_Mutation,NM_001252404,exon4,c.G488A,p.R163Q,SNP,SNVindel,exonic,TMEM249,NA,nonsynonymous SNV,"TMEM249:NM_001252404:exon4:c.G488A:p.R163Q,TMEM249:NM_001252402:exon5:c.G583A:p.D195N,TMEM249:NM_001280561:exon6:c.G583A:p.D195N",D,.,N,.,D,T
chr8,145737573,145737573,G,A,P270959_S,RECQL4,Missense_Mutation,NM_004260,exon19,c.C3190T,p.R1064C,SNP,SNVindel,exonic,RECQL4,NA,nonsynonymous SNV,RECQL4:NM_004260:exon19:c.C3190T:p.R1064C,.,.,.,.,.,.
chr8,145737592,145737592,G,A,P270959_S,RECQL4,Silent,NM_004260,exon19,c.C3171T,p.G1057G,SNP,SNVindel,exonic,RECQL4,NA,synonymous SNV,RECQL4:NM_004260:exon19:c.C3171T:p.G1057G,NA,NA,NA,NA,NA,NA
chr9,396870,396870,A,G,P270959_S,DOCK8,Missense_Mutation,NM_001190458,exon23,c.A2756G,p.D919G,SNP,SNVindel,exonic,DOCK8,NA,nonsynonymous SNV,"DOCK8:NM_001190458:exon23:c.A2756G:p.D919G,DOCK8:NM_001193536:exon24:c.A2852G:p.D951G,DOCK8:NM_203447:exon25:c.A3056G:p.D1019G",D,D,D,T,D,T
chr9,2829887,2829887,G,A,P270959_S,PUM3,Missense_Mutation,NM_014878,exon8,c.C739T,p.R247W,SNP,SNVindel,exonic,PUM3,NA,nonsynonymous SNV,PUM3:NM_014878:exon8:c.C739T:p.R247W,D,D,D,T,D,T
chr9,4844608,4844608,G,A,P270959_S,RCL1,Missense_Mutation,NM_001286701,exon3,c.G236A,p.G79D,SNP,SNVindel,exonic,RCL1,NA,nonsynonymous SNV,"RCL1:NM_001286701:exon3:c.G236A:p.G79D,RCL1:NM_001286699:exon5:c.G320A:p.G107D,RCL1:NM_001286700:exon6:c.G320A:p.G107D,RCL1:NM_005772:exon7:c.G794A:p.G265D",T,D,D,.,N,T
chr9,7103747,7103747,C,T,P270959_S,KDM4C,Silent,NM_001304340,exon16,c.C1722T,p.Y574Y,SNP,SNVindel,exonic,KDM4C,NA,synonymous SNV,"KDM4C:NM_001304340:exon16:c.C1722T:p.Y574Y,KDM4C:NM_001304339:exon18:c.C2487T:p.Y829Y,KDM4C:NM_001353997:exon18:c.C2487T:p.Y829Y,KDM4C:NM_015061:exon18:c.C2487T:p.Y829Y,KDM4C:NM_001353999:exon19:c.C1176T:p.Y392Y,KDM4C:NM_001354000:exon19:c.C1176T:p.Y392Y,KDM4C:NM_001354001:exon19:c.C1176T:p.Y392Y",NA,NA,NA,NA,NA,NA
chr9,18950805,18950805,G,A,P270959_S,SAXO1,Missense_Mutation,NM_001287050,exon2,c.C169T,p.R57W,SNP,SNVindel,exonic,SAXO1,NA,nonsynonymous SNV,"SAXO1:NM_001287050:exon2:c.C169T:p.R57W,SAXO1:NM_153707:exon2:c.C169T:p.R57W",T,N,N,T,N,T
chr9,21971110,21971110,T,C,P270959_S,CDKN2A,Missense_Mutation,NM_000077,exon2,c.A248G,p.H83R,SNP,SNVindel,exonic,CDKN2A,NA,nonsynonymous SNV,"CDKN2A:NM_000077:exon2:c.A248G:p.H83R,CDKN2A:NM_001195132:exon2:c.A248G:p.H83R,CDKN2A:NM_001363763:exon2:c.A95G:p.H32R",D,.,D,T,D,D
chr9,21971120,21971120,G,A,P270959_S,CDKN2A,Nonsense_Mutation,NM_000077,exon2,c.C238T,p.R80X,SNP,SNVindel,exonic,CDKN2A,NA,stopgain,"CDKN2A:NM_000077:exon2:c.C238T:p.R80X,CDKN2A:NM_001195132:exon2:c.C238T:p.R80X,CDKN2A:NM_001363763:exon2:c.C85T:p.R29X",T,N,A,D,D,T
chr9,32526153,32526153,C,T,P270959_S,DDX58,Silent,NM_014314,exon1,c.G12A,p.E4E,SNP,SNVindel,exonic,DDX58,NA,synonymous SNV,DDX58:NM_014314:exon1:c.G12A:p.E4E,NA,NA,NA,NA,NA,NA
chr9,32541439,32541439,C,T,P270959_S,TOPORS,Silent,NM_001195622,exon2,c.G2889A,p.S963S,SNP,SNVindel,exonic,TOPORS,NA,synonymous SNV,"TOPORS:NM_001195622:exon2:c.G2889A:p.S963S,TOPORS:NM_005802:exon3:c.G3084A:p.S1028S",NA,NA,NA,NA,NA,NA
chr9,33113458,33113458,C,T,P270959_S,B4GALT1,Silent,NM_001497,exon6,c.G1191A,p.P397P,SNP,SNVindel,exonic,B4GALT1,NA,synonymous SNV,B4GALT1:NM_001497:exon6:c.G1191A:p.P397P,NA,NA,NA,NA,NA,NA
chr9,34257426,34257426,C,T,P270959_S,KIF24,Missense_Mutation,NM_194313,exon11,c.G2179A,p.A727T,SNP,SNVindel,exonic,KIF24,NA,nonsynonymous SNV,KIF24:NM_194313:exon11:c.G2179A:p.A727T,T,N,N,T,N,T
chr9,34311094,34311094,C,T,P270959_S,KIF24,Missense_Mutation,NM_194313,exon2,c.G251A,p.R84H,SNP,SNVindel,exonic,KIF24,NA,nonsynonymous SNV,KIF24:NM_194313:exon2:c.G251A:p.R84H,T,N,N,T,N,T
chr9,35095359,35095359,C,T,P270959_S,PIGO,Silent,NM_032634,exon2,c.G204A,p.S68S,SNP,SNVindel,exonic,PIGO,NA,synonymous SNV,"PIGO:NM_032634:exon2:c.G204A:p.S68S,PIGO:NM_152850:exon2:c.G204A:p.S68S,PIGO:NM_001201484:exon3:c.G204A:p.S68S",NA,NA,NA,NA,NA,NA
chr9,35739405,35739405,G,A,P270959_S,GBA2,Missense_Mutation,NM_001330660,exon10,c.C1594T,p.R532C,SNP,SNVindel,exonic,GBA2,NA,nonsynonymous SNV,"GBA2:NM_001330660:exon10:c.C1594T:p.R532C,GBA2:NM_020944:exon10:c.C1594T:p.R532C",D,D,D,.,D,T
chr9,35842594,35842594,C,T,P270959_S,TMEM8B,Silent,NM_001363622,exon5,c.C159T,p.F53F,SNP,SNVindel,exonic,TMEM8B,NA,synonymous SNV,"TMEM8B:NM_001363622:exon5:c.C159T:p.F53F,TMEM8B:NM_001042590:exon6:c.C1515T:p.F505F,TMEM8B:NM_001363620:exon6:c.C1515T:p.F505F,TMEM8B:NM_001042589:exon7:c.C159T:p.F53F,TMEM8B:NM_001363621:exon7:c.C159T:p.F53F,TMEM8B:NM_016446:exon7:c.C159T:p.F53F",NA,NA,NA,NA,NA,NA
chr9,36353182,36353182,C,A,P270959_S,RNF38,Missense_Mutation,NM_194329,exon6,c.G906T,p.E302D,SNP,SNVindel,exonic,RNF38,NA,nonsynonymous SNV,"RNF38:NM_194329:exon6:c.G906T:p.E302D,RNF38:NM_194332:exon6:c.G807T:p.E269D,RNF38:NM_022781:exon7:c.G1056T:p.E352D,RNF38:NM_194328:exon7:c.G807T:p.E269D,RNF38:NM_194330:exon7:c.G807T:p.E269D",T,D,D,T,N,T
chr9,37537381,37537381,C,T,P270959_S,FBXO10,Missense_Mutation,NM_012166,exon3,c.G1145A,p.R382H,SNP,SNVindel,exonic,FBXO10,NA,nonsynonymous SNV,FBXO10:NM_012166:exon3:c.G1145A:p.R382H,D,N,D,T,N,T
chr9,37740128,37740128,G,A,P270959_S,FRMPD1,Missense_Mutation,NM_001371223,exon15,c.G1603A,p.V535I,SNP,SNVindel,exonic,FRMPD1,NA,nonsynonymous SNV,"FRMPD1:NM_001371223:exon15:c.G1603A:p.V535I,FRMPD1:NM_001371225:exon15:c.G1603A:p.V535I,FRMPD1:NM_014907:exon15:c.G1603A:p.V535I,FRMPD1:NM_001371224:exon16:c.G1603A:p.V535I",T,N,N,T,N,T
chr9,72064599,72064599,C,T,P270959_S,APBA1,Silent,NM_001163,exon10,c.G2082A,p.A694A,SNP,SNVindel,exonic,APBA1,NA,synonymous SNV,APBA1:NM_001163:exon10:c.G2082A:p.A694A,NA,NA,NA,NA,NA,NA
chr9,74365129,74365129,C,T,P270959_S,CEMIP2,Missense_Mutation,NM_001135820,exon2,c.G161A,p.R54Q,SNP,SNVindel,exonic,CEMIP2,NA,nonsynonymous SNV,"CEMIP2:NM_001135820:exon2:c.G161A:p.R54Q,CEMIP2:NM_013390:exon2:c.G161A:p.R54Q",T,N,N,T,N,T
chr9,75366846,75366846,A,G,P270959_S,TMC1,Missense_Mutation,NM_138691,exon11,c.A616G,p.T206A,SNP,SNVindel,exonic,TMC1,NA,nonsynonymous SNV,TMC1:NM_138691:exon11:c.A616G:p.T206A,T,D,D,T,D,T
chr9,75387442,75387442,T,C,P270959_S,TMC1,Silent,NM_138691,exon13,c.T855C,p.I285I,SNP,SNVindel,exonic,TMC1,NA,synonymous SNV,TMC1:NM_138691:exon13:c.T855C:p.I285I,NA,NA,NA,NA,NA,NA
chr9,79634954,79634954,G,A,P270959_S,FOXB2,Silent,NM_001013735,exon1,c.G384A,p.P128P,SNP,SNVindel,exonic,FOXB2,NA,synonymous SNV,FOXB2:NM_001013735:exon1:c.G384A:p.P128P,NA,NA,NA,NA,NA,NA
chr9,79852980,79852980,G,A,P270959_S,VPS13A,Missense_Mutation,NM_001018037,exon18,c.G1658A,p.R553H,SNP,SNVindel,exonic,VPS13A,NA,nonsynonymous SNV,"VPS13A:NM_001018037:exon18:c.G1658A:p.R553H,VPS13A:NM_001018038:exon18:c.G1658A:p.R553H,VPS13A:NM_015186:exon18:c.G1658A:p.R553H,VPS13A:NM_033305:exon18:c.G1658A:p.R553H",T,N,N,T,N,T
chr9,93639988,93639988,C,T,P270959_S,SYK,Silent,NM_001135052,exon9,c.C1248T,p.C416C,SNP,SNVindel,exonic,SYK,NA,synonymous SNV,"SYK:NM_001135052:exon9:c.C1248T:p.C416C,SYK:NM_001174168:exon9:c.C1248T:p.C416C,SYK:NM_001174167:exon10:c.C1317T:p.C439C,SYK:NM_003177:exon10:c.C1317T:p.C439C",NA,NA,NA,NA,NA,NA
chr9,94495516,94495516,C,T,P270959_S,ROR2,Silent,NM_001318204,exon6,c.G825A,p.P275P,SNP,SNVindel,exonic,ROR2,NA,synonymous SNV,"ROR2:NM_001318204:exon6:c.G825A:p.P275P,ROR2:NM_004560:exon6:c.G825A:p.P275P",NA,NA,NA,NA,NA,NA
chr9,95263287,95263287,C,T,P270959_S,ECM2,Silent,NM_001197295,exon9,c.G1587A,p.P529P,SNP,SNVindel,exonic,ECM2,NA,synonymous SNV,"ECM2:NM_001197295:exon9:c.G1587A:p.P529P,ECM2:NM_001197296:exon9:c.G1587A:p.P529P,ECM2:NM_001393:exon9:c.G1653A:p.P551P",NA,NA,NA,NA,NA,NA
chr9,101904938,101904938,C,T,P270959_S,TGFBR1,Missense_Mutation,NM_001130916,exon4,c.C695T,p.T232M,SNP,SNVindel,exonic,TGFBR1,NA,nonsynonymous SNV,"TGFBR1:NM_001130916:exon4:c.C695T:p.T232M,TGFBR1:NM_001306210:exon5:c.C938T:p.T313M,TGFBR1:NM_004612:exon5:c.C926T:p.T309M",D,D,D,D,N,D
chr9,102595041,102595041,G,T,P270959_S,NR4A3,Missense_Mutation,NM_006981,exon4,c.G1022T,p.R341L,SNP,SNVindel,exonic,NR4A3,NA,nonsynonymous SNV,"NR4A3:NM_006981:exon4:c.G1022T:p.R341L,NR4A3:NM_173199:exon4:c.G1022T:p.R341L,NR4A3:NM_173200:exon5:c.G1055T:p.R352L",D,D,D,D,D,D
chr9,103204360,103204360,G,A,P270959_S,MSANTD3,Missense_Mutation,NM_001198812,exon1,c.G140A,p.R47H,SNP,SNVindel,exonic,MSANTD3;MSANTD3-TMEFF1,NA,nonsynonymous SNV,"MSANTD3-TMEFF1:NM_001198812:exon1:c.G140A:p.R47H,MSANTD3:NM_001198805:exon2:c.G140A:p.R47H,MSANTD3:NM_001198806:exon2:c.G140A:p.R47H,MSANTD3:NM_001198807:exon2:c.G140A:p.R47H,MSANTD3:NM_080655:exon2:c.G140A:p.R47H",D,.,D,.,N,T
chr9,104133567,104133567,G,A,P270959_S,BAAT,Silent,NM_001127610,exon2,c.C120T,p.N40N,SNP,SNVindel,exonic,BAAT,NA,synonymous SNV,"BAAT:NM_001127610:exon2:c.C120T:p.N40N,BAAT:NM_001701:exon2:c.C120T:p.N40N",NA,NA,NA,NA,NA,NA
chr9,109771902,109771902,G,A,P270959_S,ZNF462,Silent,NM_001347997,exon12,c.G4671A,p.A1557A,SNP,SNVindel,exonic,ZNF462,NA,synonymous SNV,"ZNF462:NM_001347997:exon12:c.G4671A:p.A1557A,ZNF462:NM_021224:exon12:c.G7266A:p.A2422A",NA,NA,NA,NA,NA,NA
chr9,112144692,112144692,G,A,P270959_S,PTPN3,Silent,NM_001145372,exon13,c.C1422T,p.Y474Y,SNP,SNVindel,exonic,PTPN3,NA,synonymous SNV,"PTPN3:NM_001145372:exon13:c.C1422T:p.Y474Y,PTPN3:NM_001145371:exon14:c.C1557T:p.Y519Y,PTPN3:NM_001145370:exon18:c.C1890T:p.Y630Y,PTPN3:NM_001145369:exon19:c.C2025T:p.Y675Y,PTPN3:NM_001145368:exon23:c.C2283T:p.Y761Y,PTPN3:NM_002829:exon24:c.C2418T:p.Y806Y",NA,NA,NA,NA,NA,NA
chr9,112145795,112145795,C,T,P270959_S,PTPN3,Missense_Mutation,NM_001145372,exon12,c.G1294A,p.V432I,SNP,SNVindel,exonic,PTPN3,NA,nonsynonymous SNV,"PTPN3:NM_001145372:exon12:c.G1294A:p.V432I,PTPN3:NM_001145371:exon13:c.G1429A:p.V477I,PTPN3:NM_001145370:exon17:c.G1762A:p.V588I,PTPN3:NM_001145369:exon18:c.G1897A:p.V633I,PTPN3:NM_001145368:exon22:c.G2155A:p.V719I,PTPN3:NM_002829:exon23:c.G2290A:p.V764I",T,N,N,T,N,T
chr9,114304041,114304041,G,A,P270959_S,ZNF483,Missense_Mutation,NM_133464,exon6,c.G826A,p.G276S,SNP,SNVindel,exonic,ZNF483,NA,nonsynonymous SNV,ZNF483:NM_133464:exon6:c.G826A:p.G276S,T,N,N,T,N,T
chr9,114500705,114500705,C,T,P270959_S,SHOC1,Silent,NM_001080551,exon8,c.G963A,p.K321K,SNP,SNVindel,exonic,SHOC1,NA,synonymous SNV,"SHOC1:NM_001080551:exon8:c.G963A:p.K321K,SHOC1:NM_173521:exon10:c.G1080A:p.K360K",NA,NA,NA,NA,NA,NA
chr9,115649687,115649687,G,A,P270959_S,SLC46A2,Missense_Mutation,NM_033051,exon2,c.C1136T,p.A379V,SNP,SNVindel,exonic,SLC46A2,NA,nonsynonymous SNV,SLC46A2:NM_033051:exon2:c.C1136T:p.A379V,T,D,D,T,N,T
chr9,115931687,115931687,T,G,P270959_S,FKBP15,Missense_Mutation,NM_015258,exon26,c.A3302C,p.D1101A,SNP,SNVindel,exonic,FKBP15,NA,nonsynonymous SNV,FKBP15:NM_015258:exon26:c.A3302C:p.D1101A,D,.,N,T,N,T
chr9,116029649,116029649,C,T,P270959_S,CDC26,Missense_Mutation,NM_139286,exon4,c.G152A,p.S51N,SNP,SNVindel,exonic,CDC26,NA,nonsynonymous SNV,CDC26:NM_139286:exon4:c.G152A:p.S51N,T,N,N,.,N,T
chr9,116151931,116151931,C,T,P270959_S,ALAD,Missense_Mutation,NM_001317745,exon8,c.G638A,p.R213H,SNP,SNVindel,exonic,ALAD,NA,nonsynonymous SNV,"ALAD:NM_001317745:exon8:c.G638A:p.R213H,ALAD:NM_000031:exon9:c.G662A:p.R221H,ALAD:NM_001003945:exon9:c.G749A:p.R250H",D,D,D,D,D,D
chr9,116823774,116823774,G,A,P270959_S,AMBP,Silent,NM_001633,exon8,c.C783T,p.Y261Y,SNP,SNVindel,exonic,AMBP,NA,synonymous SNV,AMBP:NM_001633:exon8:c.C783T:p.Y261Y,NA,NA,NA,NA,NA,NA
chr9,118997754,118997754,C,T,P270959_S,PAPPA,Missense_Mutation,NM_002581,exon7,c.C2570T,p.T857M,SNP,SNVindel,exonic,PAPPA,NA,nonsynonymous SNV,PAPPA:NM_002581:exon7:c.C2570T:p.T857M,D,D,D,T,D,T
chr9,120053673,120053673,C,T,P270959_S,ASTN2,Missense_Mutation,NM_001365068,exon2,c.G562A,p.A188T,SNP,SNVindel,exonic,ASTN2,NA,nonsynonymous SNV,"ASTN2:NM_001365068:exon2:c.G562A:p.A188T,ASTN2:NM_001365069:exon2:c.G562A:p.A188T,ASTN2:NM_014010:exon2:c.G562A:p.A188T",T,N,D,T,N,T
chr9,124091559,124091559,C,T,P270959_S,GSN,Missense_Mutation,NM_000177,exon15,c.C2084T,p.T695M,SNP,SNVindel,exonic,GSN,NA,nonsynonymous SNV,"GSN:NM_000177:exon15:c.C2084T:p.T695M,GSN:NM_001127662:exon15:c.C1931T:p.T644M,GSN:NM_001258029:exon15:c.C1982T:p.T661M,GSN:NM_001258030:exon15:c.C1955T:p.T652M,GSN:NM_001353078:exon15:c.C1277T:p.T426M,GSN:NM_001353055:exon16:c.C1931T:p.T644M,GSN:NM_001353057:exon16:c.C1931T:p.T644M,GSN:NM_001353062:exon16:c.C1931T:p.T644M,GSN:NM_001353063:exon16:c.C1964T:p.T655M,GSN:NM_001353067:exon16:c.C1964T:p.T655M,GSN:NM_001353075:exon16:c.C1964T:p.T655M,GSN:NM_001353077:exon16:c.C1964T:p.T655M,GSN:NM_198252:exon16:c.C1931T:p.T644M,GSN:NM_001127663:exon17:c.C2039T:p.T680M,GSN:NM_001127664:exon17:c.C1931T:p.T644M,GSN:NM_001127665:exon17:c.C1931T:p.T644M,GSN:NM_001127666:exon17:c.C1964T:p.T655M,GSN:NM_001127667:exon17:c.C1964T:p.T655M,GSN:NM_001353056:exon17:c.C1931T:p.T644M,GSN:NM_001353058:exon17:c.C1931T:p.T644M,GSN:NM_001353059:exon17:c.C1931T:p.T644M,GSN:NM_001353060:exon17:c.C1931T:p.T644M,GSN:NM_001353061:exon17:c.C1931T:p.T644M,GSN:NM_001353070:exon17:c.C1964T:p.T655M,GSN:NM_001353076:exon17:c.C2003T:p.T668M,GSN:NM_001353064:exon18:c.C1964T:p.T655M,GSN:NM_001353065:exon18:c.C1964T:p.T655M,GSN:NM_001353066:exon18:c.C1964T:p.T655M,GSN:NM_001353068:exon18:c.C1964T:p.T655M,GSN:NM_001353069:exon18:c.C1964T:p.T655M,GSN:NM_001353071:exon18:c.C1964T:p.T655M,GSN:NM_001353072:exon18:c.C1964T:p.T655M,GSN:NM_001353074:exon18:c.C1964T:p.T655M,GSN:NM_001353073:exon19:c.C1964T:p.T655M,GSN:NM_001353053:exon24:c.C1931T:p.T644M,GSN:NM_001353054:exon24:c.C1931T:p.T644M",D,D,D,T,N,T
chr9,124967007,124967007,G,A,P270959_S,LHX6,Silent,NM_001348190,exon8,c.C1020T,p.G340G,SNP,SNVindel,exonic,LHX6,NA,synonymous SNV,"LHX6:NM_001348190:exon8:c.C1020T:p.G340G,LHX6:NM_001242333:exon9:c.C1074T:p.G358G,LHX6:NM_199160:exon9:c.C1107T:p.G369G",NA,NA,NA,NA,NA,NA
chr9,130932382,130932382,G,A,P270959_S,CIZ1,Missense_Mutation,NM_001257976,exon11,c.C1645T,p.P549S,SNP,SNVindel,exonic,CIZ1,NA,nonsynonymous SNV,"CIZ1:NM_001257976:exon11:c.C1645T:p.P549S,CIZ1:NM_001131016:exon12:c.C1948T:p.P650S,CIZ1:NM_001131018:exon12:c.C1708T:p.P570S,CIZ1:NM_001257975:exon12:c.C2038T:p.P680S,CIZ1:NM_012127:exon12:c.C1948T:p.P650S,CIZ1:NM_001131015:exon13:c.C1780T:p.P594S,CIZ1:NM_001131017:exon13:c.C1765T:p.P589S",D,D,D,T,N,T
chr9,131021358,131021358,G,A,P270959_S,GOLGA2,Missense_Mutation,NM_001366246,exon20,c.C1984T,p.R662C,SNP,SNVindel,exonic,GOLGA2,NA,nonsynonymous SNV,"GOLGA2:NM_001366246:exon20:c.C1984T:p.R662C,GOLGA2:NM_004486:exon20:c.C1984T:p.R662C,GOLGA2:NM_001366244:exon21:c.C2065T:p.R689C",D,N,N,T,D,T
chr9,131402985,131402985,G,A,P270959_S,WDR34,Silent,NM_052844,exon2,c.C420T,p.T140T,SNP,SNVindel,exonic,WDR34,NA,synonymous SNV,WDR34:NM_052844:exon2:c.C420T:p.T140T,NA,NA,NA,NA,NA,NA
chr9,132637846,132637846,G,A,P270959_S,USP20,Silent,NM_001008563,exon21,c.G2226A,p.P742P,SNP,SNVindel,exonic,USP20,NA,synonymous SNV,"USP20:NM_001008563:exon21:c.G2226A:p.P742P,USP20:NM_001110303:exon21:c.G2226A:p.P742P,USP20:NM_006676:exon21:c.G2226A:p.P742P",NA,NA,NA,NA,NA,NA
chr9,133945220,133945220,G,A,P270959_S,LAMC3,Missense_Mutation,NM_006059,exon17,c.G3052A,p.A1018T,SNP,SNVindel,exonic,LAMC3,NA,nonsynonymous SNV,LAMC3:NM_006059:exon17:c.G3052A:p.A1018T,T,N,N,T,N,T
chr9,134501550,134501550,G,A,P270959_S,RAPGEF1,Silent,NM_001304275,exon10,c.C1461T,p.D487D,SNP,SNVindel,exonic,RAPGEF1,NA,synonymous SNV,"RAPGEF1:NM_001304275:exon10:c.C1461T:p.D487D,RAPGEF1:NM_005312:exon10:c.C1410T:p.D470D,RAPGEF1:NM_198679:exon10:c.C1464T:p.D488D",NA,NA,NA,NA,NA,NA
chr9,136513089,136513089,C,T,P270959_S,DBH,Silent,NM_000787,exon6,c.C1146T,p.T382T,SNP,SNVindel,exonic,DBH,NA,synonymous SNV,DBH:NM_000787:exon6:c.C1146T:p.T382T,NA,NA,NA,NA,NA,NA
chr9,138837833,138837833,G,A,P270959_S,UBAC1,Silent,NM_016172,exon6,c.C555T,p.D185D,SNP,SNVindel,exonic,UBAC1,NA,synonymous SNV,UBAC1:NM_016172:exon6:c.C555T:p.D185D,NA,NA,NA,NA,NA,NA
chr9,139100847,139100847,G,A,P270959_S,QSOX2,Silent,NM_181701,exon12,c.C1824T,p.S608S,SNP,SNVindel,exonic,QSOX2,NA,synonymous SNV,QSOX2:NM_181701:exon12:c.C1824T:p.S608S,NA,NA,NA,NA,NA,NA
chr9,139412366,139412366,C,T,P270959_S,NOTCH1,Missense_Mutation,NM_017617,exon8,c.G1279A,p.G427S,SNP,SNVindel,exonic,NOTCH1,NA,nonsynonymous SNV,NOTCH1:NM_017617:exon8:c.G1279A:p.G427S,D,D,D,D,D,D
chr9,140040308,140040308,C,T,P270959_S,GRIN1,Missense_Mutation,NM_000832,exon3,c.C524T,p.A175V,SNP,SNVindel,exonic,GRIN1,NA,nonsynonymous SNV,"GRIN1:NM_000832:exon3:c.C524T:p.A175V,GRIN1:NM_001185090:exon3:c.C524T:p.A175V,GRIN1:NM_001185091:exon3:c.C524T:p.A175V,GRIN1:NM_007327:exon3:c.C524T:p.A175V,GRIN1:NM_021569:exon3:c.C524T:p.A175V",D,U,D,D,N,D
chr9,140108287,140108287,G,A,P270959_S,NDOR1,Missense_Mutation,NM_001144026,exon4,c.G367A,p.A123T,SNP,SNVindel,exonic,NDOR1,NA,nonsynonymous SNV,"NDOR1:NM_001144026:exon4:c.G367A:p.A123T,NDOR1:NM_001144027:exon4:c.G367A:p.A123T,NDOR1:NM_001144028:exon4:c.G367A:p.A123T,NDOR1:NM_014434:exon4:c.G367A:p.A123T",T,D,D,T,N,T
chr9,140123183,140123183,G,A,P270959_S,RNF224,Missense_Mutation,NM_001190228,exon3,c.G116A,p.R39H,SNP,SNVindel,exonic,RNF224,NA,nonsynonymous SNV,RNF224:NM_001190228:exon3:c.G116A:p.R39H,D,.,D,D,D,D
chr9,140331138,140331138,T,C,P270959_S,ENTPD8,Silent,NM_001033113,exon6,c.A621G,p.G207G,SNP,SNVindel,exonic,ENTPD8,NA,synonymous SNV,"ENTPD8:NM_001033113:exon6:c.A621G:p.G207G,ENTPD8:NM_198585:exon6:c.A621G:p.G207G",D,.,D,T,N,T
chr9,140358794,140358794,C,T,P270959_S,PNPLA7,Missense_Mutation,NM_152286,exon26,c.G3079A,p.E1027K,SNP,SNVindel,exonic,PNPLA7,NA,nonsynonymous SNV,"PNPLA7:NM_152286:exon26:c.G3079A:p.E1027K,PNPLA7:NM_001098537:exon27:c.G3154A:p.E1052K",D,N,D,T,D,D
chr9,140361906,140361906,C,T,P270959_S,PNPLA7,Missense_Mutation,NM_152286,exon25,c.G2827A,p.V943I,SNP,SNVindel,exonic,PNPLA7,NA,nonsynonymous SNV,"PNPLA7:NM_152286:exon25:c.G2827A:p.V943I,PNPLA7:NM_001098537:exon26:c.G2902A:p.V968I",T,N,N,T,N,T
chr9,140646848,140646848,C,T,P270959_S,EHMT1,Silent,NM_001354259,exon6,c.C1143T,p.D381D,SNP,SNVindel,exonic,EHMT1,NA,synonymous SNV,"EHMT1:NM_001354259:exon6:c.C1143T:p.D381D,EHMT1:NM_001354612:exon6:c.C1143T:p.D381D,EHMT1:NM_001145527:exon7:c.C1236T:p.D412D,EHMT1:NM_001354263:exon7:c.C1215T:p.D405D,EHMT1:NM_001354611:exon7:c.C1236T:p.D412D,EHMT1:NM_024757:exon7:c.C1236T:p.D412D",NA,NA,NA,NA,NA,NA
chr10,3145991,3145991,G,A,P270959_S,PFKP,Missense_Mutation,NM_001323067,exon5,c.G394A,p.V132M,SNP,SNVindel,exonic,PFKP,NA,nonsynonymous SNV,"PFKP:NM_001323067:exon5:c.G394A:p.V132M,PFKP:NM_001323068:exon5:c.G475A:p.V159M,PFKP:NM_001345944:exon5:c.G361A:p.V121M,PFKP:NM_002627:exon5:c.G475A:p.V159M,PFKP:NM_001323071:exon6:c.G361A:p.V121M,PFKP:NM_001323072:exon6:c.G361A:p.V121M,PFKP:NM_001242339:exon7:c.G451A:p.V151M",D,N,N,T,N,T
chr10,5540984,5540984,C,T,P270959_S,CALML5,Missense_Mutation,NM_017422,exon1,c.G418A,p.A140T,SNP,SNVindel,exonic,CALML5,NA,nonsynonymous SNV,CALML5:NM_017422:exon1:c.G418A:p.A140T,D,N,N,T,N,T
chr10,13702543,13702543,C,A,P270959_S,FRMD4A,Missense_Mutation,NM_001318338,exon9,c.G744T,p.Q248H,SNP,SNVindel,exonic,FRMD4A,NA,nonsynonymous SNV,"FRMD4A:NM_001318338:exon9:c.G744T:p.Q248H,FRMD4A:NM_001318336:exon19:c.G1719T:p.Q573H,FRMD4A:NM_001318337:exon19:c.G1770T:p.Q590H,FRMD4A:NM_018027:exon20:c.G1671T:p.Q557H",D,D,D,D,N,T
chr10,14867497,14867497,C,A,P270959_S,CDNF,Missense_Mutation,NM_001029954,exon3,c.G366T,p.Q122H,SNP,SNVindel,exonic,CDNF,NA,nonsynonymous SNV,CDNF:NM_001029954:exon3:c.G366T:p.Q122H,D,D,D,.,D,D
chr10,15600119,15600119,T,C,P270959_S,ITGA8,Missense_Mutation,NM_001291494,exon25,c.A2675G,p.D892G,SNP,SNVindel,exonic,ITGA8,NA,nonsynonymous SNV,"ITGA8:NM_001291494:exon25:c.A2675G:p.D892G,ITGA8:NM_003638:exon26:c.A2720G:p.D907G",T,N,D,T,D,T
chr10,27702349,27702349,C,T,P270959_S,PTCHD3,Silent,NM_001034842,exon1,c.G831A,p.T277T,SNP,SNVindel,exonic,PTCHD3,NA,synonymous SNV,PTCHD3:NM_001034842:exon1:c.G831A:p.T277T,NA,NA,NA,NA,NA,NA
chr10,31137721,31137721,C,T,P270959_S,ZNF438,Missense_Mutation,NM_001143767,exon5,c.G1613A,p.R538Q,SNP,SNVindel,exonic,ZNF438,NA,nonsynonymous SNV,"ZNF438:NM_001143767:exon5:c.G1613A:p.R538Q,ZNF438:NM_001143768:exon6:c.G1613A:p.R538Q,ZNF438:NM_001143766:exon7:c.G1613A:p.R538Q,ZNF438:NM_001143769:exon7:c.G1466A:p.R489Q,ZNF438:NM_001143771:exon7:c.G1583A:p.R528Q,ZNF438:NM_182755:exon7:c.G1613A:p.R538Q,ZNF438:NM_001143770:exon8:c.G1583A:p.R528Q",T,D,D,T,N,T
chr10,48383856,48383856,C,T,P270959_S,RBP3,Missense_Mutation,NM_002900,exon3,c.G3376A,p.A1126T,SNP,SNVindel,exonic,RBP3,NA,nonsynonymous SNV,RBP3:NM_002900:exon3:c.G3376A:p.A1126T,.,.,.,.,.,.
chr10,49654543,49654543,C,T,P270959_S,ARHGAP22,Missense_Mutation,NM_001256026,exon8,c.G1718A,p.R573Q,SNP,SNVindel,exonic,ARHGAP22,NA,nonsynonymous SNV,"ARHGAP22:NM_001256026:exon8:c.G1718A:p.R573Q,ARHGAP22:NM_001347735:exon9:c.G1859A:p.R620Q,ARHGAP22:NM_001256024:exon10:c.G2036A:p.R679Q,ARHGAP22:NM_001256025:exon10:c.G2006A:p.R669Q,ARHGAP22:NM_021226:exon10:c.G1988A:p.R663Q,ARHGAP22:NM_001347738:exon11:c.G2006A:p.R669Q",T,D,D,T,D,T
chr10,50122041,50122041,C,T,P270959_S,LRRC18,Missense_Mutation,NM_001006939,exon1,c.G160A,p.E54K,SNP,SNVindel,exonic,LRRC18,NA,nonsynonymous SNV,LRRC18:NM_001006939:exon1:c.G160A:p.E54K,T,D,D,T,N,T
chr10,50178246,50178246,C,T,P270959_S,WDFY4,Missense_Mutation,NM_020945,exon57,c.C8840T,p.T2947M,SNP,SNVindel,exonic,WDFY4,NA,nonsynonymous SNV,WDFY4:NM_020945:exon57:c.C8840T:p.T2947M,T,N,N,T,N,T
chr10,51585064,51585064,A,T,P270959_S,NCOA4,Missense_Mutation,NM_001145262,exon8,c.A1163T,p.D388V,SNP,SNVindel,exonic,NCOA4,NA,nonsynonymous SNV,"NCOA4:NM_001145262:exon8:c.A1163T:p.D388V,NCOA4:NM_001145263:exon8:c.A1163T:p.D388V,NCOA4:NM_005437:exon8:c.A1163T:p.D388V,NCOA4:NM_001145260:exon9:c.A1211T:p.D404V,NCOA4:NM_001145261:exon9:c.A1211T:p.D404V",NA,NA,NA,NA,NA,NA
chr10,61832248,61832248,G,A,P270959_S,ANK3,Silent,NM_020987,exon37,c.C8391T,p.N2797N,SNP,SNVindel,exonic,ANK3,NA,synonymous SNV,ANK3:NM_020987:exon37:c.C8391T:p.N2797N,NA,NA,NA,NA,NA,NA
chr10,73558150,73558150,C,T,P270959_S,CDH23,Missense_Mutation,NM_001171933,exon3,c.C149T,p.T50M,SNP,SNVindel,exonic,CDH23,NA,nonsynonymous SNV,"CDH23:NM_001171933:exon3:c.C149T:p.T50M,CDH23:NM_001171934:exon3:c.C149T:p.T50M,CDH23:NM_022124:exon48:c.C6869T:p.T2290M",D,D,D,T,N,T
chr10,73828039,73828039,C,T,P270959_S,SPOCK2,Silent,NM_001244950,exon6,c.G495A,p.A165A,SNP,SNVindel,exonic,SPOCK2,NA,synonymous SNV,"SPOCK2:NM_001244950:exon6:c.G495A:p.A165A,SPOCK2:NM_014767:exon7:c.G495A:p.A165A",NA,NA,NA,NA,NA,NA
chr10,81052057,81052057,G,A,P270959_S,ZMIZ1,Missense_Mutation,NM_020338,exon11,c.G901A,p.A301T,SNP,SNVindel,exonic,ZMIZ1,NA,nonsynonymous SNV,ZMIZ1:NM_020338:exon11:c.G901A:p.A301T,D,U,D,T,D,T
chr10,92503400,92503400,G,A,P270959_S,HTR7,Missense_Mutation,NM_019859,exon3,c.C1343T,p.P448L,SNP,SNVindel,exonic,HTR7,NA,nonsynonymous SNV,HTR7:NM_019859:exon3:c.C1343T:p.P448L,T,N,N,T,N,T
chr10,94834680,94834680,C,T,P270959_S,CYP26A1,Nonsense_Mutation,NM_000783,exon3,c.C559T,p.R187X,SNP,SNVindel,exonic,CYP26A1,NA,stopgain,"CYP26A1:NM_000783:exon3:c.C559T:p.R187X,CYP26A1:NM_057157:exon3:c.C352T:p.R118X",.,D,A,.,.,.
chr10,95556874,95556874,C,T,P270959_S,LGI1,Nonsense_Mutation,NM_001308276,exon6,c.C844T,p.R282X,SNP,SNVindel,exonic,LGI1,NA,stopgain,"LGI1:NM_001308276:exon6:c.C844T:p.R282X,LGI1:NM_005097:exon8:c.C988T:p.R330X",.,D,D,.,.,.
chr10,97174324,97174324,G,A,P270959_S,SORBS1,Missense_Mutation,NM_001290296,exon6,c.C710T,p.P237L,SNP,SNVindel,exonic,SORBS1,NA,nonsynonymous SNV,"SORBS1:NM_001290296:exon6:c.C710T:p.P237L,SORBS1:NM_001034954:exon7:c.C737T:p.P246L,SORBS1:NM_001034955:exon7:c.C737T:p.P246L,SORBS1:NM_001034956:exon7:c.C530T:p.P177L,SORBS1:NM_015385:exon8:c.C641T:p.P214L,SORBS1:NM_001290294:exon9:c.C737T:p.P246L",T,N,D,T,D,T
chr10,97371014,97371014,G,A,P270959_S,ALDH18A1,Silent,NM_001323419,exon13,c.C1473T,p.D491D,SNP,SNVindel,exonic,ALDH18A1,NA,synonymous SNV,"ALDH18A1:NM_001323419:exon13:c.C1473T:p.D491D,ALDH18A1:NM_001323412:exon15:c.C1776T:p.D592D,ALDH18A1:NM_001323416:exon15:c.C1776T:p.D592D,ALDH18A1:NM_001323417:exon15:c.C2004T:p.D668D,ALDH18A1:NM_001323418:exon15:c.C1770T:p.D590D,ALDH18A1:NM_001017423:exon16:c.C2103T:p.D701D,ALDH18A1:NM_001323413:exon16:c.C2109T:p.D703D,ALDH18A1:NM_001323414:exon16:c.C2109T:p.D703D,ALDH18A1:NM_001323415:exon16:c.C2103T:p.D701D,ALDH18A1:NM_002860:exon16:c.C2109T:p.D703D",NA,NA,NA,NA,NA,NA
chr10,99228851,99228851,G,A,P270959_S,MMS19,Missense_Mutation,NM_001289403,exon11,c.C806T,p.T269M,SNP,SNVindel,exonic,MMS19,NA,nonsynonymous SNV,"MMS19:NM_001289403:exon11:c.C806T:p.T269M,MMS19:NM_001289404:exon11:c.C461T:p.T154M,MMS19:NM_001351357:exon11:c.C461T:p.T154M,MMS19:NM_022362:exon12:c.C935T:p.T312M,MMS19:NM_001289405:exon13:c.C935T:p.T312M,MMS19:NM_001351356:exon13:c.C1052T:p.T351M",D,D,D,T,N,T
chr10,100995470,100995470,A,G,P270959_S,HPSE2,Silent,NM_001166244,exon1,c.T90C,p.A30A,SNP,SNVindel,exonic,HPSE2,NA,synonymous SNV,"HPSE2:NM_001166244:exon1:c.T90C:p.A30A,HPSE2:NM_001166245:exon1:c.T90C:p.A30A,HPSE2:NM_001166246:exon1:c.T90C:p.A30A,HPSE2:NM_021828:exon1:c.T90C:p.A30A",NA,NA,NA,NA,NA,NA
chr10,101464346,101464346,G,A,P270959_S,ENTPD7,Missense_Mutation,NM_001349963,exon13,c.G1721A,p.R574Q,SNP,SNVindel,exonic,ENTPD7,NA,nonsynonymous SNV,"ENTPD7:NM_001349963:exon13:c.G1721A:p.R574Q,ENTPD7:NM_020354:exon13:c.G1721A:p.R574Q,ENTPD7:NM_001349962:exon14:c.G1727A:p.R576Q",D,D,D,T,N,T
chr10,102566309,102566309,C,T,P270959_S,PAX2,Missense_Mutation,NM_000278,exon6,c.C739T,p.R247C,SNP,SNVindel,exonic,PAX2,NA,nonsynonymous SNV,"PAX2:NM_000278:exon6:c.C739T:p.R247C,PAX2:NM_003988:exon6:c.C739T:p.R247C,PAX2:NM_003989:exon6:c.C739T:p.R247C,PAX2:NM_001304569:exon7:c.C832T:p.R278C,PAX2:NM_003987:exon7:c.C808T:p.R270C,PAX2:NM_003990:exon7:c.C808T:p.R270C",D,D,D,D,D,D
chr10,102763332,102763332,G,A,P270959_S,LZTS2,Silent,NM_001318099,exon3,c.G477A,p.P159P,SNP,SNVindel,exonic,LZTS2,NA,synonymous SNV,"LZTS2:NM_001318099:exon3:c.G477A:p.P159P,LZTS2:NM_001318100:exon3:c.G477A:p.P159P,LZTS2:NM_032429:exon3:c.G477A:p.P159P",NA,NA,NA,NA,NA,NA
chr10,102988279,102988279,C,T,P270959_S,LBX1,Silent,NM_006562,exon1,c.G294A,p.G98G,SNP,SNVindel,exonic,LBX1,NA,synonymous SNV,LBX1:NM_006562:exon1:c.G294A:p.G98G,NA,NA,NA,NA,NA,NA
chr10,105907664,105907664,C,T,P270959_S,CFAP43,Silent,NM_025145,exon29,c.G3753A,p.R1251R,SNP,SNVindel,exonic,CFAP43,NA,synonymous SNV,CFAP43:NM_025145:exon29:c.G3753A:p.R1251R,NA,NA,NA,NA,NA,NA
chr10,115804722,115804722,C,A,P270959_S,ADRB1,Silent,NM_000684,exon1,c.C831A,p.P277P,SNP,SNVindel,exonic,ADRB1,NA,synonymous SNV,ADRB1:NM_000684:exon1:c.C831A:p.P277P,NA,NA,NA,NA,NA,NA
chr10,116085741,116085741,T,C,P270959_S,AFAP1L2,Missense_Mutation,NM_001287824,exon5,c.A374G,p.H125R,SNP,SNVindel,exonic,AFAP1L2,NA,nonsynonymous SNV,AFAP1L2:NM_001287824:exon5:c.A374G:p.H125R,NA,NA,NA,NA,NA,NA
chr10,118385521,118385521,G,A,P270959_S,PNLIPRP2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PNLIPRP2,NA,unknown,UNKNOWN,.,N,N,D,.,T
chr10,118628196,118628196,C,T,P270959_S,ENO4,Silent,NM_001242699,exon8,c.C1026T,p.H342H,SNP,SNVindel,exonic,ENO4,NA,synonymous SNV,ENO4:NM_001242699:exon8:c.C1026T:p.H342H,NA,NA,NA,NA,NA,NA
chr10,127843811,127843811,G,A,P270959_S,ADAM12,Silent,NM_001288973,exon4,c.C324T,p.L108L,SNP,SNVindel,exonic,ADAM12,NA,synonymous SNV,"ADAM12:NM_001288973:exon4:c.C324T:p.L108L,ADAM12:NM_001288974:exon4:c.C324T:p.L108L,ADAM12:NM_001288975:exon4:c.C324T:p.L108L,ADAM12:NM_003474:exon4:c.C324T:p.L108L,ADAM12:NM_021641:exon4:c.C324T:p.L108L",NA,NA,NA,NA,NA,NA
chr10,128796483,128796483,T,C,P270959_S,DOCK1,Missense_Mutation,NM_001290223,exon8,c.T737C,p.L246P,SNP,SNVindel,exonic,DOCK1,NA,nonsynonymous SNV,"DOCK1:NM_001290223:exon8:c.T737C:p.L246P,DOCK1:NM_001380:exon8:c.T737C:p.L246P",D,D,D,T,D,D
chr10,128973834,128973834,C,T,P270959_S,INSYN2A,Missense_Mutation,NM_001039762,exon4,c.G826A,p.A276T,SNP,SNVindel,exonic,INSYN2A,NA,nonsynonymous SNV,INSYN2A:NM_001039762:exon4:c.G826A:p.A276T,T,N,N,T,N,T
chr10,135203147,135203147,G,A,P270959_S,PAOX,Missense_Mutation,NM_152911,exon6,c.G1288A,p.A430T,SNP,SNVindel,exonic,PAOX,NA,nonsynonymous SNV,PAOX:NM_152911:exon6:c.G1288A:p.A430T,T,N,D,D,N,D
chr10,135347330,135347330,C,T,P270959_S,CYP2E1,Missense_Mutation,NM_000773,exon6,c.C896T,p.A299V,SNP,SNVindel,exonic,CYP2E1,NA,nonsynonymous SNV,CYP2E1:NM_000773:exon6:c.C896T:p.A299V,D,D,D,T,D,D
chr11,428749,428749,G,A,P270959_S,ANO9,Silent,NM_001347882,exon11,c.C561T,p.T187T,SNP,SNVindel,exonic,ANO9,NA,synonymous SNV,"ANO9:NM_001347882:exon11:c.C561T:p.T187T,ANO9:NM_001012302:exon12:c.C993T:p.T331T",NA,NA,NA,NA,NA,NA
chr11,552631,552631,G,A,P270959_S,LRRC56,Missense_Mutation,NM_198075,exon13,c.G1244A,p.R415Q,SNP,SNVindel,exonic,LRRC56,NA,nonsynonymous SNV,LRRC56:NM_198075:exon13:c.G1244A:p.R415Q,T,N,N,T,N,T
chr11,1015932,1015932,G,A,P270959_S,MUC6,Missense_Mutation,NM_005961,exon31,c.C6869T,p.S2290L,SNP,SNVindel,exonic,MUC6,NA,nonsynonymous SNV,MUC6:NM_005961:exon31:c.C6869T:p.S2290L,D,.,N,T,N,T
chr11,1265872,1265872,G,A,P270959_S,MUC5B,Missense_Mutation,NM_002458,exon31,c.G7762A,p.G2588R,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.G7762A:p.G2588R,D,.,N,T,N,T
chr11,1272427,1272427,T,C,P270959_S,MUC5B,Missense_Mutation,NM_002458,exon31,c.T14317C,p.S4773P,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.T14317C:p.S4773P,T,.,N,T,N,T
chr11,3047941,3047941,G,A,P270959_S,CARS,Missense_Mutation,NM_001751,exon9,c.C869T,p.A290V,SNP,SNVindel,exonic,CARS,NA,nonsynonymous SNV,"CARS:NM_001751:exon9:c.C869T:p.A290V,CARS:NM_139273:exon9:c.C869T:p.A290V,CARS:NM_001014437:exon10:c.C1118T:p.A373V,CARS:NM_001194997:exon10:c.C1118T:p.A373V",D,D,D,T,D,T
chr11,5798988,5798988,G,T,P270959_S,OR52N5,Missense_Mutation,NM_001001922,exon1,c.C877A,p.L293I,SNP,SNVindel,exonic,OR52N5,NA,nonsynonymous SNV,OR52N5:NM_001001922:exon1:c.C877A:p.L293I,T,.,N,T,N,T
chr11,6644599,6644599,G,A,P270959_S,DCHS1,Nonsense_Mutation,NM_003737,exon21,c.C8308T,p.R2770X,SNP,SNVindel,exonic,DCHS1,NA,stopgain,DCHS1:NM_003737:exon21:c.C8308T:p.R2770X,.,N,D,.,.,.
chr11,6648891,6648891,G,A,P270959_S,DCHS1,Silent,NM_003737,exon14,c.C5379T,p.D1793D,SNP,SNVindel,exonic,DCHS1,NA,synonymous SNV,DCHS1:NM_003737:exon14:c.C5379T:p.D1793D,NA,NA,NA,NA,NA,NA
chr11,13514021,13514021,G,A,P270959_S,PTH,Silent,NM_000315,exon3,c.C279T,p.S93S,SNP,SNVindel,exonic,PTH,NA,synonymous SNV,"PTH:NM_000315:exon3:c.C279T:p.S93S,PTH:NM_001316352:exon3:c.C375T:p.S125S",NA,NA,NA,NA,NA,NA
chr11,18195223,18195223,G,A,P270959_S,MRGPRX4,Silent,NM_054032,exon1,c.G420A,p.A140A,SNP,SNVindel,exonic,MRGPRX4,NA,synonymous SNV,MRGPRX4:NM_054032:exon1:c.G420A:p.A140A,NA,NA,NA,NA,NA,NA
chr11,20968970,20968970,G,A,P270959_S,NELL1,Missense_Mutation,NM_001288714,exon10,c.G989A,p.R330H,SNP,SNVindel,exonic,NELL1,NA,nonsynonymous SNV,"NELL1:NM_001288714:exon10:c.G989A:p.R330H,NELL1:NM_006157:exon11:c.G1160A:p.R387H,NELL1:NM_201551:exon11:c.G1160A:p.R387H,NELL1:NM_001288713:exon12:c.G1244A:p.R415H",D,N,N,T,N,T
chr11,44129668,44129668,G,A,P270959_S,EXT2,Missense_Mutation,NM_000401,exon2,c.G505A,p.A169T,SNP,SNVindel,exonic,EXT2,NA,nonsynonymous SNV,"EXT2:NM_000401:exon2:c.G505A:p.A169T,EXT2:NM_001178083:exon2:c.G406A:p.A136T,EXT2:NM_207122:exon2:c.G406A:p.A136T",T,D,D,D,N,D
chr11,45248321,45248321,C,A,P270959_S,PRDM11,Silent,NM_001256695,exon8,c.C2145A,p.A715A,SNP,SNVindel,exonic,PRDM11,NA,synonymous SNV,PRDM11:NM_001256695:exon8:c.C2145A:p.A715A,NA,NA,NA,NA,NA,NA
chr11,45248756,45248756,C,T,P270959_S,PRDM11,Silent,NM_001256695,exon8,c.C2580T,p.D860D,SNP,SNVindel,exonic,PRDM11,NA,synonymous SNV,PRDM11:NM_001256695:exon8:c.C2580T:p.D860D,NA,NA,NA,NA,NA,NA
chr11,45671747,45671747,G,A,P270959_S,CHST1,Missense_Mutation,NM_003654,exon4,c.C727T,p.R243C,SNP,SNVindel,exonic,CHST1,NA,nonsynonymous SNV,CHST1:NM_003654:exon4:c.C727T:p.R243C,D,D,D,T,D,D
chr11,46686441,46686441,G,A,P270959_S,ATG13,Missense_Mutation,NM_001205120,exon11,c.G832A,p.V278I,SNP,SNVindel,exonic,ATG13,NA,nonsynonymous SNV,"ATG13:NM_001205120:exon11:c.G832A:p.V278I,ATG13:NM_001346335:exon11:c.G805A:p.V269I,ATG13:NM_001346358:exon11:c.G247A:p.V83I,ATG13:NM_001142673:exon12:c.G832A:p.V278I,ATG13:NM_001205119:exon12:c.G931A:p.V311I,ATG13:NM_001346317:exon12:c.G904A:p.V302I,ATG13:NM_001346324:exon12:c.G832A:p.V278I,ATG13:NM_001346326:exon12:c.G832A:p.V278I,ATG13:NM_001346327:exon12:c.G832A:p.V278I,ATG13:NM_001346334:exon12:c.G805A:p.V269I,ATG13:NM_001346336:exon12:c.G805A:p.V269I,ATG13:NM_001346337:exon12:c.G805A:p.V269I,ATG13:NM_001346338:exon12:c.G832A:p.V278I,ATG13:NM_001346340:exon12:c.G832A:p.V278I,ATG13:NM_001346357:exon12:c.G247A:p.V83I,ATG13:NM_001346359:exon12:c.G247A:p.V83I,ATG13:NM_001346311:exon13:c.G931A:p.V311I,ATG13:NM_001346312:exon13:c.G931A:p.V311I,ATG13:NM_001346318:exon13:c.G904A:p.V302I,ATG13:NM_001346320:exon13:c.G832A:p.V278I,ATG13:NM_001346323:exon13:c.G832A:p.V278I,ATG13:NM_001346325:exon13:c.G832A:p.V278I,ATG13:NM_001346328:exon13:c.G832A:p.V278I,ATG13:NM_001346330:exon13:c.G832A:p.V278I,ATG13:NM_001346331:exon13:c.G832A:p.V278I,ATG13:NM_001346313:exon14:c.G931A:p.V311I,ATG13:NM_001346314:exon14:c.G931A:p.V311I,ATG13:NM_001346316:exon14:c.G931A:p.V311I,ATG13:NM_001346319:exon14:c.G832A:p.V278I,ATG13:NM_001346321:exon14:c.G832A:p.V278I,ATG13:NM_001346322:exon14:c.G832A:p.V278I,ATG13:NM_001346329:exon14:c.G832A:p.V278I,ATG13:NM_001346333:exon14:c.G805A:p.V269I,ATG13:NM_001346315:exon15:c.G931A:p.V311I,ATG13:NM_001346332:exon15:c.G832A:p.V278I",T,N,D,.,N,T
chr11,57982333,57982333,C,T,P270959_S,OR1S1,Silent,NM_001004458,exon1,c.C117T,p.L39L,SNP,SNVindel,exonic,OR1S1,NA,synonymous SNV,OR1S1:NM_001004458:exon1:c.C117T:p.L39L,NA,NA,NA,NA,NA,NA
chr11,58972233,58972233,G,A,P270959_S,DTX4,Missense_Mutation,NM_001300727,exon9,c.G1393A,p.V465I,SNP,SNVindel,exonic,DTX4,NA,nonsynonymous SNV,"DTX4:NM_001300727:exon9:c.G1393A:p.V465I,DTX4:NM_015177:exon9:c.G1711A:p.V571I",D,D,D,T,N,T
chr11,59480631,59480631,G,A,P270959_S,OR10V1,Missense_Mutation,NM_001005324,exon1,c.C688T,p.R230W,SNP,SNVindel,exonic,OR10V1,NA,nonsynonymous SNV,OR10V1:NM_001005324:exon1:c.C688T:p.R230W,D,N,N,T,D,T
chr11,60702097,60702097,C,T,P270959_S,TMEM132A,Missense_Mutation,NM_017870,exon9,c.C1700T,p.T567M,SNP,SNVindel,exonic,TMEM132A,NA,nonsynonymous SNV,"TMEM132A:NM_017870:exon9:c.C1700T:p.T567M,TMEM132A:NM_178031:exon9:c.C1697T:p.T566M",D,N,N,T,N,T
chr11,61981209,61981209,C,T,P270959_S,SCGB2A1,Silent,NM_002407,exon3,c.C255T,p.Y85Y,SNP,SNVindel,exonic,SCGB2A1,NA,synonymous SNV,SCGB2A1:NM_002407:exon3:c.C255T:p.Y85Y,NA,NA,NA,NA,NA,NA
chr11,62439447,62439447,G,T,P270959_S,UQCC3,Missense_Mutation,NM_001085372,exon2,c.G143T,p.R48M,SNP,SNVindel,exonic,UQCC3,NA,nonsynonymous SNV,UQCC3:NM_001085372:exon2:c.G143T:p.R48M,T,N,N,.,N,T
chr11,63987932,63987932,G,A,P270959_S,FERMT3,Missense_Mutation,NM_031471,exon12,c.G1336A,p.A446T,SNP,SNVindel,exonic,FERMT3,NA,nonsynonymous SNV,"FERMT3:NM_031471:exon12:c.G1336A:p.A446T,FERMT3:NM_178443:exon12:c.G1348A:p.A450T",D,D,D,T,D,T
chr11,64082688,64082688,C,T,P270959_S,ESRRA,Missense_Mutation,NM_001282450,exon6,c.C958T,p.R320W,SNP,SNVindel,exonic,ESRRA,NA,nonsynonymous SNV,"ESRRA:NM_001282450:exon6:c.C958T:p.R320W,ESRRA:NM_001282451:exon6:c.C955T:p.R319W,ESRRA:NM_004451:exon6:c.C958T:p.R320W",D,D,D,D,D,D
chr11,64621868,64621868,G,A,P270959_S,EHD1,Silent,NM_006795,exon5,c.C1542T,p.G514G,SNP,SNVindel,exonic,EHD1,NA,synonymous SNV,"EHD1:NM_006795:exon5:c.C1542T:p.G514G,EHD1:NM_001282445:exon6:c.C1584T:p.G528G,EHD1:NM_001282444:exon7:c.C1542T:p.G514G",NA,NA,NA,NA,NA,NA
chr11,64678511,64678511,G,A,P270959_S,ATG2A,Missense_Mutation,NM_001367971,exon10,c.C1465T,p.R489W,SNP,SNVindel,exonic,ATG2A,NA,nonsynonymous SNV,"ATG2A:NM_001367971:exon10:c.C1465T:p.R489W,ATG2A:NM_001367972:exon10:c.C1465T:p.R489W,ATG2A:NM_015104:exon10:c.C1465T:p.R489W",D,D,D,T,D,T
chr11,64876219,64876219,C,T,P270959_S,VPS51,Missense_Mutation,NM_013265,exon5,c.C1276T,p.R426C,SNP,SNVindel,exonic,VPS51,NA,nonsynonymous SNV,VPS51:NM_013265:exon5:c.C1276T:p.R426C,D,D,D,.,D,T
chr11,65341036,65341036,C,T,P270959_S,FAM89B,Missense_Mutation,NM_001098785,exon2,c.C494T,p.P165L,SNP,SNVindel,exonic,FAM89B,NA,nonsynonymous SNV,"FAM89B:NM_001098785:exon2:c.C494T:p.P165L,FAM89B:NM_152832:exon2:c.C455T:p.P152L",D,N,D,.,D,T
chr11,66050584,66050584,C,A,P270959_S,CNIH2,Missense_Mutation,NM_182553,exon4,c.C277A,p.L93I,SNP,SNVindel,exonic,CNIH2,NA,nonsynonymous SNV,CNIH2:NM_182553:exon4:c.C277A:p.L93I,T,D,D,T,N,T
chr11,66625486,66625486,G,A,P270959_S,LRFN4,Missense_Mutation,NM_024036,exon1,c.G271A,p.A91T,SNP,SNVindel,exonic,LRFN4,NA,nonsynonymous SNV,"LRFN4:NM_024036:exon1:c.G271A:p.A91T,LRFN4:NM_001363524:exon2:c.G271A:p.A91T",T,N,D,T,N,T
chr11,66743096,66743096,G,T,P270959_S,C11orf86,Missense_Mutation,NM_001136485,exon1,c.G263T,p.R88M,SNP,SNVindel,exonic,C11orf86,NA,nonsynonymous SNV,"C11orf86:NM_001136485:exon1:c.G263T:p.R88M,C11orf86:NM_001353554:exon1:c.G263T:p.R88M",D,N,N,.,D,T
chr11,67049402,67049402,C,T,P270959_S,GRK2,Silent,NM_001619,exon11,c.C936T,p.F312F,SNP,SNVindel,exonic,GRK2,NA,synonymous SNV,GRK2:NM_001619:exon11:c.C936T:p.F312F,NA,NA,NA,NA,NA,NA
chr11,68773516,68773516,C,T,P270959_S,MRGPRF,Missense_Mutation,NM_001098515,exon3,c.G262A,p.A88T,SNP,SNVindel,exonic,MRGPRF,NA,nonsynonymous SNV,"MRGPRF:NM_001098515:exon3:c.G262A:p.A88T,MRGPRF:NM_145015:exon3:c.G262A:p.A88T",T,D,D,T,D,D
chr11,70263177,70263177,C,T,P270959_S,CTTN,Silent,NM_001184740,exon8,c.C516T,p.S172S,SNP,SNVindel,exonic,CTTN,NA,synonymous SNV,"CTTN:NM_001184740:exon8:c.C516T:p.S172S,CTTN:NM_005231:exon8:c.C516T:p.S172S,CTTN:NM_138565:exon8:c.C516T:p.S172S",NA,NA,NA,NA,NA,NA
chr11,70332338,70332338,C,T,P270959_S,SHANK2,Missense_Mutation,NM_133266,exon10,c.G2296A,p.E766K,SNP,SNVindel,exonic,SHANK2,NA,nonsynonymous SNV,SHANK2:NM_133266:exon10:c.G2296A:p.E766K,T,N,N,T,N,T
chr11,71189451,71189451,C,T,P270959_S,NADSYN1,Missense_Mutation,NM_018161,exon10,c.C809T,p.T270M,SNP,SNVindel,exonic,NADSYN1,NA,nonsynonymous SNV,NADSYN1:NM_018161:exon10:c.C809T:p.T270M,D,N,D,D,D,D
chr11,73744710,73744710,G,A,P270959_S,C2CD3,Silent,NM_001286577,exon31,c.C6495T,p.G2165G,SNP,SNVindel,exonic,C2CD3,NA,synonymous SNV,C2CD3:NM_001286577:exon31:c.C6495T:p.G2165G,NA,NA,NA,NA,NA,NA
chr11,74904351,74904351,G,A,P270959_S,SLCO2B1,Silent,NM_001145212,exon6,c.G732A,p.A244A,SNP,SNVindel,exonic,SLCO2B1,NA,synonymous SNV,"SLCO2B1:NM_001145212:exon6:c.G732A:p.A244A,SLCO2B1:NM_001145211:exon9:c.G1098A:p.A366A,SLCO2B1:NM_007256:exon9:c.G1164A:p.A388A",NA,NA,NA,NA,NA,NA
chr11,76814207,76814207,C,T,P270959_S,OMP,Missense_Mutation,NM_006189,exon1,c.C322T,p.R108C,SNP,SNVindel,exonic,OMP,NA,nonsynonymous SNV,OMP:NM_006189:exon1:c.C322T:p.R108C,D,.,D,T,D,T
chr11,76910631,76910631,G,A,P270959_S,MYO7A,Silent,NM_000260,exon35,c.G4620A,p.A1540A,SNP,SNVindel,exonic,MYO7A,NA,synonymous SNV,MYO7A:NM_000260:exon35:c.G4620A:p.A1540A,NA,NA,NA,NA,NA,NA
chr11,77728241,77728241,C,T,P270959_S,KCTD14,Missense_Mutation,NM_023930,exon2,c.G166A,p.G56S,SNP,SNVindel,exonic,KCTD14,NA,nonsynonymous SNV,"KCTD14:NM_023930:exon2:c.G166A:p.G56S,KCTD14:NM_001282406:exon3:c.G76A:p.G26S",D,N,D,T,N,T
chr11,85347173,85347173,C,T,P270959_S,TMEM126B,Missense_Mutation,NM_001256547,exon4,c.C455T,p.A152V,SNP,SNVindel,exonic,TMEM126B,NA,nonsynonymous SNV,"TMEM126B:NM_001256547:exon4:c.C455T:p.A152V,TMEM126B:NM_001350393:exon4:c.C368T:p.A123V,TMEM126B:NM_018480:exon5:c.C593T:p.A198V,TMEM126B:NM_001193537:exon6:c.C533T:p.A178V,TMEM126B:NM_001193538:exon6:c.C503T:p.A168V,TMEM126B:NM_001256546:exon6:c.C503T:p.A168V",T,N,N,T,N,T
chr11,86519219,86519219,C,T,P270959_S,PRSS23,Silent,NM_001293179,exon2,c.C534T,p.H178H,SNP,SNVindel,exonic,PRSS23,NA,synonymous SNV,"PRSS23:NM_001293179:exon2:c.C534T:p.H178H,PRSS23:NM_001293180:exon2:c.C534T:p.H178H,PRSS23:NM_007173:exon2:c.C534T:p.H178H",NA,NA,NA,NA,NA,NA
chr11,87882925,87882925,T,C,P270959_S,RAB38,Missense_Mutation,NM_022337,exon2,c.A401G,p.D134G,SNP,SNVindel,exonic,RAB38,NA,nonsynonymous SNV,RAB38:NM_022337:exon2:c.A401G:p.D134G,T,D,D,T,D,T
chr11,89447443,89447443,C,T,P270959_S,TRIM77,Silent,NM_001146162,exon3,c.C591T,p.H197H,SNP,SNVindel,exonic,TRIM77,NA,synonymous SNV,TRIM77:NM_001146162:exon3:c.C591T:p.H197H,NA,NA,NA,NA,NA,NA
chr11,103093785,103093785,C,A,P270959_S,DYNC2H1,Missense_Mutation,NM_001080463,exon59,c.C9323A,p.P3108H,SNP,SNVindel,exonic,DYNC2H1,NA,nonsynonymous SNV,"DYNC2H1:NM_001080463:exon59:c.C9323A:p.P3108H,DYNC2H1:NM_001377:exon59:c.C9323A:p.P3108H",D,D,D,D,D,D
chr11,108121751,108121751,A,T,P270959_S,ATM,Missense_Mutation,NM_000051,exon10,c.A1559T,p.D520V,SNP,SNVindel,exonic,ATM,NA,nonsynonymous SNV,"ATM:NM_000051:exon10:c.A1559T:p.D520V,ATM:NM_001351834:exon11:c.A1559T:p.D520V",D,D,D,T,D,T
chr11,117282877,117282877,G,A,P270959_S,CEP164,Missense_Mutation,NM_001271933,exon32,c.G4361A,p.R1454H,SNP,SNVindel,exonic,CEP164,NA,nonsynonymous SNV,"CEP164:NM_001271933:exon32:c.G4361A:p.R1454H,CEP164:NM_014956:exon33:c.G4376A:p.R1459H",T,N,N,T,N,T
chr11,117376257,117376257,G,A,P270959_S,DSCAML1,Silent,NM_001367904,exon9,c.C1974T,p.S658S,SNP,SNVindel,exonic,DSCAML1,NA,synonymous SNV,"DSCAML1:NM_001367904:exon9:c.C1974T:p.S658S,DSCAML1:NM_020693:exon9:c.C1974T:p.S658S",NA,NA,NA,NA,NA,NA
chr11,117864102,117864102,C,T,P270959_S,IL10RA,Missense_Mutation,NM_001558,exon4,c.C514T,p.R172C,SNP,SNVindel,exonic,IL10RA,NA,nonsynonymous SNV,IL10RA:NM_001558:exon4:c.C514T:p.R172C,D,N,D,T,D,T
chr11,119993733,119993733,G,A,P270959_S,TRIM29,Missense_Mutation,NM_001330382,exon5,c.C581T,p.T194M,SNP,SNVindel,exonic,TRIM29,NA,nonsynonymous SNV,"TRIM29:NM_001330382:exon5:c.C581T:p.T194M,TRIM29:NM_012101:exon5:c.C1364T:p.T455M",T,N,N,T,N,T
chr11,120180222,120180222,G,A,P270959_S,POU2F3,Missense_Mutation,NM_001244682,exon10,c.G1001A,p.R334Q,SNP,SNVindel,exonic,POU2F3,NA,nonsynonymous SNV,"POU2F3:NM_001244682:exon10:c.G1001A:p.R334Q,POU2F3:NM_014352:exon10:c.G995A:p.R332Q",.,D,D,.,.,D
chr11,123513328,123513328,G,A,P270959_S,SCN3B,Missense_Mutation,NM_018400,exon3,c.C271T,p.R91C,SNP,SNVindel,exonic,SCN3B,NA,nonsynonymous SNV,"SCN3B:NM_018400:exon3:c.C271T:p.R91C,SCN3B:NM_001040151:exon4:c.C271T:p.R91C",D,D,D,T,D,D
chr11,124951337,124951337,G,A,P270959_S,SLC37A2,Missense_Mutation,NM_001145290,exon8,c.G715A,p.A239T,SNP,SNVindel,exonic,SLC37A2,NA,nonsynonymous SNV,"SLC37A2:NM_001145290:exon8:c.G715A:p.A239T,SLC37A2:NM_198277:exon8:c.G715A:p.A239T",T,N,N,T,N,T
chr11,126176524,126176524,G,A,P270959_S,DCPS,Silent,NM_001350236,exon2,c.G282A,p.T94T,SNP,SNVindel,exonic,DCPS,NA,synonymous SNV,"DCPS:NM_001350236:exon2:c.G282A:p.T94T,DCPS:NM_014026:exon2:c.G261A:p.T87T",NA,NA,NA,NA,NA,NA
chr11,126213259,126213259,G,A,P270959_S,DCPS,Missense_Mutation,NM_001350236,exon5,c.G715A,p.D239N,SNP,SNVindel,exonic,DCPS,NA,nonsynonymous SNV,"DCPS:NM_001350236:exon5:c.G715A:p.D239N,DCPS:NM_014026:exon5:c.G694A:p.D232N",D,D,D,D,D,D
chr11,128773278,128773278,C,T,P270959_S,C11orf45,Missense_Mutation,NM_001256088,exon3,c.G265A,p.G89S,SNP,SNVindel,exonic,C11orf45,NA,nonsynonymous SNV,"C11orf45:NM_001256088:exon3:c.G265A:p.G89S,C11orf45:NM_001369160:exon3:c.G208A:p.G70S,C11orf45:NM_145013:exon3:c.G265A:p.G89S",D,.,N,.,D,T
chr11,134074822,134074822,C,T,P270959_S,NCAPD3,Missense_Mutation,NM_015261,exon9,c.G1061A,p.R354H,SNP,SNVindel,exonic,NCAPD3,NA,nonsynonymous SNV,NCAPD3:NM_015261:exon9:c.G1061A:p.R354H,D,N,N,T,N,T
chr12,2676739,2676739,G,A,P270959_S,CACNA1C,Silent,NM_000719,exon13,c.G1674A,p.T558T,SNP,SNVindel,exonic,CACNA1C,NA,synonymous SNV,"CACNA1C:NM_000719:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129827:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129829:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129830:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129831:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129832:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129833:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129834:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129835:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129836:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129837:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129838:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129839:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129840:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129841:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129842:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129843:exon13:c.G1674A:p.T558T,CACNA1C:NM_001129844:exon13:c.G1665A:p.T555T,CACNA1C:NM_001129846:exon13:c.G1674A:p.T558T,CACNA1C:NM_001167623:exon13:c.G1674A:p.T558T,CACNA1C:NM_001167624:exon13:c.G1674A:p.T558T,CACNA1C:NM_001167625:exon13:c.G1674A:p.T558T,CACNA1C:NM_199460:exon13:c.G1674A:p.T558T",NA,NA,NA,NA,NA,NA
chr12,6128463,6128463,C,T,P270959_S,VWF,Missense_Mutation,NM_000552,exon28,c.G4121A,p.R1374H,SNP,SNVindel,exonic,VWF,NA,nonsynonymous SNV,VWF:NM_000552:exon28:c.G4121A:p.R1374H,D,D,D,D,N,D
chr12,6702752,6702752,C,T,P270959_S,CHD4,Missense_Mutation,NM_001297553,exon15,c.G2323A,p.A775T,SNP,SNVindel,exonic,CHD4,NA,nonsynonymous SNV,"CHD4:NM_001297553:exon15:c.G2323A:p.A775T,CHD4:NM_001273:exon16:c.G2344A:p.A782T,CHD4:NM_001363606:exon16:c.G2305A:p.A769T",D,D,D,D,D,D
chr12,6954961,6954961,G,A,P270959_S,GNB3,Missense_Mutation,NM_001297571,exon9,c.G908A,p.R303H,SNP,SNVindel,exonic,GNB3,NA,nonsynonymous SNV,"GNB3:NM_001297571:exon9:c.G908A:p.R303H,GNB3:NM_002075:exon9:c.G911A:p.R304H",T,D,D,T,D,T
chr12,7069904,7069904,T,C,P270959_S,PTPN6,Silent,NM_080549,exon15,c.T1752C,p.G584G,SNP,SNVindel,exonic,PTPN6,NA,synonymous SNV,PTPN6:NM_080549:exon15:c.T1752C:p.G584G,NA,NA,NA,NA,NA,NA
chr12,12982484,12982484,G,A,P270959_S,DDX47,Missense_Mutation,NM_201224,exon11,c.G1217A,p.R406H,SNP,SNVindel,exonic,DDX47,NA,nonsynonymous SNV,"DDX47:NM_201224:exon11:c.G1217A:p.R406H,DDX47:NM_016355:exon12:c.G1364A:p.R455H",D,N,N,T,N,T
chr12,27081682,27081682,G,A,P270959_S,INTS13,Missense_Mutation,NM_018164,exon4,c.C457T,p.R153C,SNP,SNVindel,exonic,INTS13,NA,nonsynonymous SNV,INTS13:NM_018164:exon4:c.C457T:p.R153C,D,D,D,T,N,T
chr12,31116856,31116856,C,T,P270959_S,TSPAN11,Silent,NM_001370301,exon2,c.C150T,p.S50S,SNP,SNVindel,exonic,TSPAN11,NA,synonymous SNV,"TSPAN11:NM_001370301:exon2:c.C150T:p.S50S,TSPAN11:NM_001080509:exon3:c.C180T:p.S60S,TSPAN11:NM_001370302:exon3:c.C180T:p.S60S",NA,NA,NA,NA,NA,NA
chr12,31256844,31256844,C,T,P270959_S,DDX11,Silent,NM_001257144,exon27,c.C2790T,p.G930G,SNP,SNVindel,exonic,DDX11,NA,synonymous SNV,"DDX11:NM_001257144:exon27:c.C2790T:p.G930G,DDX11:NM_152438:exon27:c.C2790T:p.G930G",NA,NA,NA,NA,NA,NA
chr12,31562304,31562304,C,T,P270959_S,DENND5B,Missense_Mutation,NM_144973,exon14,c.G2696A,p.R899Q,SNP,SNVindel,exonic,DENND5B,NA,nonsynonymous SNV,"DENND5B:NM_144973:exon14:c.G2696A:p.R899Q,DENND5B:NM_001308339:exon16:c.G2801A:p.R934Q",D,D,D,T,D,T
chr12,32735290,32735290,A,T,P270959_S,FGD4,Silent,NM_001330373,exon3,c.A210T,p.P70P,SNP,SNVindel,exonic,FGD4,NA,synonymous SNV,"FGD4:NM_001330373:exon3:c.A210T:p.P70P,FGD4:NM_001330374:exon3:c.A210T:p.P70P,FGD4:NM_001304480:exon4:c.A825T:p.P275P,FGD4:NM_001304481:exon4:c.A744T:p.P248P,FGD4:NM_001370298:exon4:c.A981T:p.P327P,FGD4:NM_139241:exon4:c.A489T:p.P163P",NA,NA,NA,NA,NA,NA
chr12,40838042,40838042,A,C,P270959_S,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,48192395,48192395,G,A,P270959_S,HDAC7,Missense_Mutation,NM_001308090,exon3,c.C248T,p.P83L,SNP,SNVindel,exonic,HDAC7,NA,nonsynonymous SNV,"HDAC7:NM_001308090:exon3:c.C248T:p.P83L,HDAC7:NM_001098416:exon4:c.C299T:p.P100L,HDAC7:NM_001368046:exon4:c.C299T:p.P100L,HDAC7:NM_015401:exon4:c.C299T:p.P100L",D,N,N,T,N,T
chr12,49360065,49360065,C,T,P270959_S,WNT10B,Missense_Mutation,NM_003394,exon5,c.G983A,p.G328E,SNP,SNVindel,exonic,WNT10B,NA,nonsynonymous SNV,WNT10B:NM_003394:exon5:c.G983A:p.G328E,D,D,D,D,D,D
chr12,49919805,49919805,C,T,P270959_S,SPATS2,Missense_Mutation,NM_001293286,exon13,c.C1405T,p.R469W,SNP,SNVindel,exonic,SPATS2,NA,nonsynonymous SNV,"SPATS2:NM_001293286:exon13:c.C1405T:p.R469W,SPATS2:NM_023071:exon14:c.C1405T:p.R469W,SPATS2:NM_001293285:exon15:c.C1405T:p.R469W",D,N,D,.,N,T
chr12,49949663,49949663,T,C,P270959_S,KCNH3,Silent,NM_001314030,exon12,c.T2217C,p.A739A,SNP,SNVindel,exonic,KCNH3,NA,synonymous SNV,"KCNH3:NM_001314030:exon12:c.T2217C:p.A739A,KCNH3:NM_012284:exon12:c.T2397C:p.A799A",NA,NA,NA,NA,NA,NA
chr12,49994259,49994259,C,T,P270959_S,FAM186B,Silent,NM_032130,exon4,c.G1164A,p.G388G,SNP,SNVindel,exonic,FAM186B,NA,synonymous SNV,FAM186B:NM_032130:exon4:c.G1164A:p.G388G,NA,NA,NA,NA,NA,NA
chr12,50452649,50452649,T,A,P270959_S,ASIC1,Missense_Mutation,NM_001095,exon2,c.T100A,p.F34I,SNP,SNVindel,exonic,ASIC1,NA,nonsynonymous SNV,"ASIC1:NM_001095:exon2:c.T100A:p.F34I,ASIC1:NM_020039:exon2:c.T100A:p.F34I",D,D,D,T,D,T
chr12,51695873,51695873,G,A,P270959_S,BIN2,Silent,NM_001290007,exon5,c.C261T,p.Y87Y,SNP,SNVindel,exonic,BIN2,NA,synonymous SNV,"BIN2:NM_001290007:exon5:c.C261T:p.Y87Y,BIN2:NM_001364779:exon5:c.C339T:p.Y113Y,BIN2:NM_001364780:exon5:c.C339T:p.Y113Y,BIN2:NM_001364781:exon5:c.C339T:p.Y113Y,BIN2:NM_016293:exon5:c.C339T:p.Y113Y",NA,NA,NA,NA,NA,NA
chr12,56332729,56332729,C,T,P270959_S,DGKA,Nonsense_Mutation,NM_001345,exon7,c.C430T,p.R144X,SNP,SNVindel,exonic,DGKA,NA,stopgain,"DGKA:NM_001345:exon7:c.C430T:p.R144X,DGKA:NM_001351033:exon7:c.C430T:p.R144X,DGKA:NM_001351035:exon7:c.C544T:p.R182X,DGKA:NM_001351036:exon7:c.C7T:p.R3X,DGKA:NM_001351037:exon7:c.C7T:p.R3X,DGKA:NM_201444:exon7:c.C430T:p.R144X,DGKA:NM_201554:exon7:c.C430T:p.R144X,DGKA:NM_001351034:exon8:c.C430T:p.R144X,DGKA:NM_201445:exon8:c.C430T:p.R144X",.,D,A,.,.,.
chr12,57106613,57106613,C,T,P270959_S,NACA,Missense_Mutation,NM_001113201,exon7,c.G590A,p.R197Q,SNP,SNVindel,exonic,NACA,NA,nonsynonymous SNV,"NACA:NM_001113201:exon7:c.G590A:p.R197Q,NACA:NM_001113202:exon7:c.G590A:p.R197Q,NACA:NM_001320193:exon7:c.G590A:p.R197Q,NACA:NM_001320194:exon7:c.G590A:p.R197Q,NACA:NM_005594:exon7:c.G590A:p.R197Q,NACA:NM_001365896:exon8:c.G6179A:p.R2060Q,NACA:NM_001113203:exon10:c.G2720A:p.R907Q",T,D,D,T,D,T
chr12,57860101,57860101,C,T,P270959_S,GLI1,Missense_Mutation,NM_001160045,exon6,c.C457T,p.P153S,SNP,SNVindel,exonic,GLI1,NA,nonsynonymous SNV,"GLI1:NM_001160045:exon6:c.C457T:p.P153S,GLI1:NM_001167609:exon7:c.C718T:p.P240S,GLI1:NM_005269:exon8:c.C841T:p.P281S",D,D,D,D,D,D
chr12,58001299,58001299,G,A,P270959_S,DTX3,Missense_Mutation,NM_001286245,exon4,c.G662A,p.R221Q,SNP,SNVindel,exonic,DTX3,NA,nonsynonymous SNV,"DTX3:NM_001286245:exon4:c.G662A:p.R221Q,DTX3:NM_001286246:exon4:c.G653A:p.R218Q,DTX3:NM_178502:exon5:c.G653A:p.R218Q",T,N,N,T,N,T
chr12,58022562,58022562,G,A,P270959_S,B4GALNT1,Silent,NM_001276468,exon7,c.C771T,p.D257D,SNP,SNVindel,exonic,B4GALNT1,NA,synonymous SNV,"B4GALNT1:NM_001276468:exon7:c.C771T:p.D257D,B4GALNT1:NM_001478:exon8:c.C936T:p.D312D",NA,NA,NA,NA,NA,NA
chr12,58089589,58089589,C,T,P270959_S,OS9,Silent,NM_001261423,exon2,c.C189T,p.F63F,SNP,SNVindel,exonic,OS9,NA,synonymous SNV,"OS9:NM_001261423:exon2:c.C189T:p.F63F,OS9:NM_001017956:exon3:c.C366T:p.F122F,OS9:NM_001017957:exon3:c.C366T:p.F122F,OS9:NM_001017958:exon3:c.C366T:p.F122F,OS9:NM_001261420:exon3:c.C366T:p.F122F,OS9:NM_001261421:exon3:c.C366T:p.F122F,OS9:NM_001261422:exon3:c.C366T:p.F122F,OS9:NM_006812:exon3:c.C366T:p.F122F",NA,NA,NA,NA,NA,NA
chr12,58090074,58090074,G,A,P270959_S,OS9,Missense_Mutation,NM_001261423,exon4,c.G320A,p.R107H,SNP,SNVindel,exonic,OS9,NA,nonsynonymous SNV,"OS9:NM_001261423:exon4:c.G320A:p.R107H,OS9:NM_001017956:exon5:c.G497A:p.R166H,OS9:NM_001017957:exon5:c.G497A:p.R166H,OS9:NM_001017958:exon5:c.G497A:p.R166H,OS9:NM_001261420:exon5:c.G497A:p.R166H,OS9:NM_006812:exon5:c.G497A:p.R166H",D,D,D,T,D,T
chr12,64609657,64609657,G,A,P270959_S,C12orf66,Missense_Mutation,NM_001300940,exon2,c.C322T,p.R108C,SNP,SNVindel,exonic,C12orf66,NA,nonsynonymous SNV,"C12orf66:NM_001300940:exon2:c.C322T:p.R108C,C12orf66:NM_001300941:exon2:c.C163T:p.R55C,C12orf66:NM_152440:exon2:c.C322T:p.R108C",T,D,D,T,N,T
chr12,66788073,66788073,G,C,P270959_S,GRIP1,Missense_Mutation,NM_001178074,exon16,c.C1888G,p.P630A,SNP,SNVindel,exonic,GRIP1,NA,nonsynonymous SNV,"GRIP1:NM_001178074:exon16:c.C1888G:p.P630A,GRIP1:NM_001366723:exon16:c.C1963G:p.P655A,GRIP1:NM_001366724:exon16:c.C1966G:p.P656A,GRIP1:NM_021150:exon16:c.C1888G:p.P630A,GRIP1:NM_001366722:exon17:c.C2044G:p.P682A",D,D,D,T,D,T
chr12,68051084,68051084,C,T,P270959_S,DYRK2,Missense_Mutation,NM_003583,exon2,c.C178T,p.R60W,SNP,SNVindel,exonic,DYRK2,NA,nonsynonymous SNV,"DYRK2:NM_003583:exon2:c.C178T:p.R60W,DYRK2:NM_006482:exon3:c.C397T:p.R133W",D,D,D,T,N,T
chr12,81688767,81688767,G,A,P270959_S,PPFIA2,Silent,NM_001220479,exon14,c.C1473T,p.N491N,SNP,SNVindel,exonic,PPFIA2,NA,synonymous SNV,"PPFIA2:NM_001220479:exon14:c.C1473T:p.N491N,PPFIA2:NM_001220480:exon15:c.C423T:p.N141N,PPFIA2:NM_001220478:exon20:c.C2475T:p.N825N,PPFIA2:NM_001220477:exon21:c.C2550T:p.N850N,PPFIA2:NM_001282536:exon21:c.C2313T:p.N771N,PPFIA2:NM_001220473:exon23:c.C2772T:p.N924N,PPFIA2:NM_001220474:exon23:c.C2727T:p.N909N,PPFIA2:NM_001220475:exon23:c.C2772T:p.N924N,PPFIA2:NM_001220476:exon23:c.C2772T:p.N924N,PPFIA2:NM_003625:exon24:c.C2772T:p.N924N",NA,NA,NA,NA,NA,NA
chr12,101720911,101720911,T,A,P270959_S,UTP20,Missense_Mutation,NM_014503,exon26,c.T3094A,p.S1032T,SNP,SNVindel,exonic,UTP20,NA,nonsynonymous SNV,UTP20:NM_014503:exon26:c.T3094A:p.S1032T,T,D,D,T,N,T
chr12,102040599,102040599,A,G,P270959_S,MYBPC1,Missense_Mutation,NM_001254722,exon9,c.A871G,p.T291A,SNP,SNVindel,exonic,MYBPC1,NA,nonsynonymous SNV,"MYBPC1:NM_001254722:exon9:c.A871G:p.T291A,MYBPC1:NM_001254720:exon10:c.A913G:p.T305A,MYBPC1:NM_001254721:exon10:c.A892G:p.T298A,MYBPC1:NM_001254723:exon10:c.A910G:p.T304A,MYBPC1:NM_001254718:exon11:c.A949G:p.T317A,MYBPC1:NM_001254719:exon11:c.A949G:p.T317A,MYBPC1:NM_206820:exon11:c.A949G:p.T317A,MYBPC1:NM_206821:exon11:c.A949G:p.T317A,MYBPC1:NM_002465:exon13:c.A1024G:p.T342A,MYBPC1:NM_206819:exon13:c.A1024G:p.T342A",T,N,D,T,N,T
chr12,106460791,106460791,C,T,P270959_S,NUAK1,Missense_Mutation,NM_014840,exon7,c.G1775A,p.R592H,SNP,SNVindel,exonic,NUAK1,NA,nonsynonymous SNV,NUAK1:NM_014840:exon7:c.G1775A:p.R592H,T,D,D,T,N,T
chr12,106461681,106461681,G,T,P270959_S,NUAK1,Silent,NM_014840,exon7,c.C885A,p.A295A,SNP,SNVindel,exonic,NUAK1,NA,synonymous SNV,NUAK1:NM_014840:exon7:c.C885A:p.A295A,NA,NA,NA,NA,NA,NA
chr12,107395705,107395705,T,C,P270959_S,CRY1,Silent,NM_004075,exon4,c.A432G,p.G144G,SNP,SNVindel,exonic,CRY1,NA,synonymous SNV,CRY1:NM_004075:exon4:c.A432G:p.G144G,NA,NA,NA,NA,NA,NA
chr12,108133177,108133177,G,A,P270959_S,PRDM4,Silent,NM_012406,exon11,c.C2076T,p.H692H,SNP,SNVindel,exonic,PRDM4,NA,synonymous SNV,PRDM4:NM_012406:exon11:c.C2076T:p.H692H,NA,NA,NA,NA,NA,NA
chr12,108685994,108685994,C,T,P270959_S,CMKLR1,Missense_Mutation,NM_001142344,exon3,c.G746A,p.R249H,SNP,SNVindel,exonic,CMKLR1,NA,nonsynonymous SNV,"CMKLR1:NM_001142344:exon3:c.G746A:p.R249H,CMKLR1:NM_001142345:exon3:c.G746A:p.R249H,CMKLR1:NM_004072:exon3:c.G740A:p.R247H,CMKLR1:NM_001142343:exon4:c.G746A:p.R249H",D,N,N,T,D,T
chr12,109210929,109210929,G,A,P270959_S,SSH1,Missense_Mutation,NM_001161331,exon4,c.C319T,p.R107C,SNP,SNVindel,exonic,SSH1,NA,nonsynonymous SNV,"SSH1:NM_001161331:exon4:c.C319T:p.R107C,SSH1:NM_001161330:exon5:c.C286T:p.R96C,SSH1:NM_018984:exon5:c.C286T:p.R96C",D,D,D,T,D,T
chr12,110427583,110427583,C,T,P270959_S,GIT2,Missense_Mutation,NM_001135213,exon3,c.G211A,p.G71S,SNP,SNVindel,exonic,GIT2,NA,nonsynonymous SNV,"GIT2:NM_001135213:exon3:c.G211A:p.G71S,GIT2:NM_001135214:exon3:c.G211A:p.G71S,GIT2:NM_001330153:exon3:c.G211A:p.G71S,GIT2:NM_001330154:exon3:c.G211A:p.G71S,GIT2:NM_014776:exon3:c.G211A:p.G71S,GIT2:NM_057169:exon3:c.G211A:p.G71S,GIT2:NM_057170:exon3:c.G211A:p.G71S,GIT2:NM_139201:exon3:c.G211A:p.G71S",D,D,D,T,D,T
chr12,110819574,110819574,C,T,P270959_S,ANAPC7,Missense_Mutation,NM_001137664,exon8,c.G1217A,p.R406H,SNP,SNVindel,exonic,ANAPC7,NA,nonsynonymous SNV,"ANAPC7:NM_001137664:exon8:c.G1217A:p.R406H,ANAPC7:NM_016238:exon8:c.G1217A:p.R406H",D,D,D,T,D,T
chr12,111078285,111078285,C,A,P270959_S,TCTN1,Missense_Mutation,NM_001082537,exon8,c.C941A,p.A314D,SNP,SNVindel,exonic,TCTN1,NA,nonsynonymous SNV,"TCTN1:NM_001082537:exon8:c.C941A:p.A314D,TCTN1:NM_001082538:exon8:c.C941A:p.A314D,TCTN1:NM_001173975:exon8:c.C773A:p.A258D,TCTN1:NM_001319680:exon8:c.C941A:p.A314D,TCTN1:NM_024549:exon8:c.C899A:p.A300D,TCTN1:NM_001173976:exon9:c.C761A:p.A254D,TCTN1:NM_001319681:exon9:c.C407A:p.A136D",T,N,N,D,N,T
chr12,113382404,113382404,G,A,P270959_S,OAS3,Missense_Mutation,NM_006187,exon3,c.G584A,p.R195H,SNP,SNVindel,exonic,OAS3,NA,nonsynonymous SNV,OAS3:NM_006187:exon3:c.G584A:p.R195H,D,.,N,T,N,T
chr12,113610189,113610189,G,A,P270959_S,DDX54,Silent,NM_001111322,exon11,c.C1248T,p.P416P,SNP,SNVindel,exonic,DDX54,NA,synonymous SNV,"DDX54:NM_001111322:exon11:c.C1248T:p.P416P,DDX54:NM_024072:exon11:c.C1248T:p.P416P",NA,NA,NA,NA,NA,NA
chr12,122255426,122255426,C,T,P270959_S,SETD1B,Missense_Mutation,NM_001353345,exon8,c.C3128T,p.A1043V,SNP,SNVindel,exonic,SETD1B,NA,nonsynonymous SNV,SETD1B:NM_001353345:exon8:c.C3128T:p.A1043V,.,.,N,.,.,.
chr12,122284816,122284816,G,A,P270959_S,HPD,Silent,NM_002150,exon11,c.C783T,p.G261G,SNP,SNVindel,exonic,HPD,NA,synonymous SNV,"HPD:NM_002150:exon11:c.C783T:p.G261G,HPD:NM_001171993:exon13:c.C666T:p.G222G",NA,NA,NA,NA,NA,NA
chr12,122292610,122292610,G,A,P270959_S,HPD,Missense_Mutation,NM_002150,exon7,c.C413T,p.T138M,SNP,SNVindel,exonic,HPD,NA,nonsynonymous SNV,"HPD:NM_002150:exon7:c.C413T:p.T138M,HPD:NM_001171993:exon9:c.C296T:p.T99M",D,D,D,T,D,D
chr12,124071403,124071403,G,A,P270959_S,TMED2,Missense_Mutation,NM_001321445,exon2,c.G290A,p.R97Q,SNP,SNVindel,exonic,TMED2,NA,nonsynonymous SNV,"TMED2:NM_001321445:exon2:c.G290A:p.R97Q,TMED2:NM_006815:exon2:c.G290A:p.R97Q",T,D,D,T,N,T
chr12,129293370,129293370,C,A,P270959_S,SLC15A4,Silent,NM_145648,exon5,c.G1221T,p.V407V,SNP,SNVindel,exonic,SLC15A4,NA,synonymous SNV,SLC15A4:NM_145648:exon5:c.G1221T:p.V407V,NA,NA,NA,NA,NA,NA
chr12,130647807,130647807,G,A,P270959_S,FZD10,Missense_Mutation,NM_007197,exon1,c.G320A,p.R107Q,SNP,SNVindel,exonic,FZD10,NA,nonsynonymous SNV,FZD10:NM_007197:exon1:c.G320A:p.R107Q,T,U,D,D,N,D
chr12,132212965,132212965,C,T,P270959_S,SFSWAP,Missense_Mutation,NM_001261411,exon7,c.C1073T,p.T358M,SNP,SNVindel,exonic,SFSWAP,NA,nonsynonymous SNV,"SFSWAP:NM_001261411:exon7:c.C1073T:p.T358M,SFSWAP:NM_004592:exon7:c.C1073T:p.T358M",D,N,N,T,N,T
chr12,132502116,132502116,C,T,P270959_S,EP400,Silent,NM_015409,exon20,c.C3960T,p.N1320N,SNP,SNVindel,exonic,EP400,NA,synonymous SNV,EP400:NM_015409:exon20:c.C3960T:p.N1320N,NA,NA,NA,NA,NA,NA
chr12,133363342,133363342,G,A,P270959_S,GOLGA3,Missense_Mutation,NM_001172557,exon14,c.C2843T,p.A948V,SNP,SNVindel,exonic,GOLGA3,NA,nonsynonymous SNV,"GOLGA3:NM_001172557:exon14:c.C2843T:p.A948V,GOLGA3:NM_005895:exon14:c.C2843T:p.A948V",T,N,N,T,N,T
chr13,21361625,21361625,G,A,P270959_S,XPO4,Missense_Mutation,NM_022459,exon21,c.C3160T,p.L1054F,SNP,SNVindel,exonic,XPO4,NA,nonsynonymous SNV,XPO4:NM_022459:exon21:c.C3160T:p.L1054F,D,D,D,T,D,D
chr13,28901686,28901686,C,T,P270959_S,FLT1,Silent,NM_002019,exon20,c.G2709A,p.G903G,SNP,SNVindel,exonic,FLT1,NA,synonymous SNV,FLT1:NM_002019:exon20:c.G2709A:p.G903G,NA,NA,NA,NA,NA,NA
chr13,40175258,40175258,C,T,P270959_S,LHFPL6,Nonsense_Mutation,NM_005780,exon2,c.G96A,p.W32X,SNP,SNVindel,exonic,LHFPL6,NA,stopgain,LHFPL6:NM_005780:exon2:c.G96A:p.W32X,.,D,A,.,.,.
chr13,41767515,41767515,G,A,P270959_S,KBTBD7,Silent,NM_032138,exon1,c.C879T,p.D293D,SNP,SNVindel,exonic,KBTBD7,NA,synonymous SNV,KBTBD7:NM_032138:exon1:c.C879T:p.D293D,NA,NA,NA,NA,NA,NA
chr13,46717525,46717525,G,A,P270959_S,LCP1,Missense_Mutation,NM_002298,exon12,c.C1268T,p.A423V,SNP,SNVindel,exonic,LCP1,NA,nonsynonymous SNV,LCP1:NM_002298:exon12:c.C1268T:p.A423V,D,D,D,D,D,D
chr13,52515218,52515218,G,A,P270959_S,ATP7B,Silent,NM_001005918,exon12,c.C2934T,p.D978D,SNP,SNVindel,exonic,ATP7B,NA,synonymous SNV,"ATP7B:NM_001005918:exon12:c.C2934T:p.D978D,ATP7B:NM_001330579:exon14:c.C3303T:p.D1101D,ATP7B:NM_001330578:exon15:c.C3321T:p.D1107D,ATP7B:NM_000053:exon16:c.C3555T:p.D1185D,ATP7B:NM_001243182:exon17:c.C3222T:p.D1074D",NA,NA,NA,NA,NA,NA
chr13,52586561,52586561,G,A,P270959_S,ALG11,Missense_Mutation,NM_001004127,exon1,c.G7A,p.A3T,SNP,SNVindel,exonic,ALG11,NA,nonsynonymous SNV,ALG11:NM_001004127:exon1:c.G7A:p.A3T,T,N,N,T,D,T
chr13,52991255,52991255,G,A,P270959_S,VPS36,Silent,NM_001282168,exon12,c.C900T,p.G300G,SNP,SNVindel,exonic,VPS36,NA,synonymous SNV,"VPS36:NM_001282168:exon12:c.C900T:p.G300G,VPS36:NM_001282169:exon12:c.C753T:p.G251G,VPS36:NM_016075:exon12:c.C927T:p.G309G",NA,NA,NA,NA,NA,NA
chr13,99540738,99540738,G,A,P270959_S,DOCK9,Missense_Mutation,NM_001130049,exon17,c.C1856T,p.T619M,SNP,SNVindel,exonic,DOCK9,NA,nonsynonymous SNV,"DOCK9:NM_001130049:exon17:c.C1856T:p.T619M,DOCK9:NM_001130050:exon17:c.C1853T:p.T618M,DOCK9:NM_001366677:exon17:c.C1889T:p.T630M,DOCK9:NM_001366679:exon17:c.C1853T:p.T618M,DOCK9:NM_001366680:exon17:c.C1853T:p.T618M,DOCK9:NM_001366681:exon17:c.C1853T:p.T618M,DOCK9:NM_001366682:exon17:c.C1853T:p.T618M,DOCK9:NM_001366683:exon17:c.C1853T:p.T618M,DOCK9:NM_001366684:exon17:c.C1853T:p.T618M",D,N,D,T,D,T
chr13,101742277,101742277,C,T,P270959_S,NALCN,Missense_Mutation,NM_001350750,exon28,c.G3223A,p.A1075T,SNP,SNVindel,exonic,NALCN,NA,nonsynonymous SNV,"NALCN:NM_001350750:exon28:c.G3223A:p.A1075T,NALCN:NM_001350751:exon28:c.G3223A:p.A1075T,NALCN:NM_001350749:exon29:c.G3310A:p.A1104T,NALCN:NM_052867:exon29:c.G3310A:p.A1104T,NALCN:NM_001350748:exon30:c.G3397A:p.A1133T",D,D,D,D,D,D
chr13,113210371,113210371,G,A,P270959_S,TUBGCP3,Missense_Mutation,NM_001286277,exon6,c.C686T,p.T229M,SNP,SNVindel,exonic,TUBGCP3,NA,nonsynonymous SNV,"TUBGCP3:NM_001286277:exon6:c.C686T:p.T229M,TUBGCP3:NM_001286278:exon6:c.C716T:p.T239M,TUBGCP3:NM_001286279:exon6:c.C716T:p.T239M,TUBGCP3:NM_006322:exon6:c.C716T:p.T239M",T,N,N,T,N,T
chr13,114304805,114304805,G,A,P270959_S,ATP4B,Silent,NM_000705,exon6,c.C630T,p.L210L,SNP,SNVindel,exonic,ATP4B,NA,synonymous SNV,ATP4B:NM_000705:exon6:c.C630T:p.L210L,NA,NA,NA,NA,NA,NA
chr14,20586079,20586079,T,C,P270959_S,OR4K17,Missense_Mutation,NM_001004715,exon1,c.T430C,p.C144R,SNP,SNVindel,exonic,OR4K17,NA,nonsynonymous SNV,OR4K17:NM_001004715:exon1:c.T430C:p.C144R,D,U,N,T,D,T
chr14,21162164,21162164,G,A,P270959_S,ANG,Silent,NM_001097577,exon2,c.G441A,p.P147P,SNP,SNVindel,exonic,ANG,NA,synonymous SNV,"ANG:NM_001097577:exon2:c.G441A:p.P147P,ANG:NM_001145:exon2:c.G441A:p.P147P",NA,NA,NA,NA,NA,NA
chr14,21544563,21544563,G,A,P270959_S,ARHGEF40,Missense_Mutation,NM_018071,exon6,c.G1784A,p.R595H,SNP,SNVindel,exonic,ARHGEF40,NA,nonsynonymous SNV,ARHGEF40:NM_018071:exon6:c.G1784A:p.R595H,D,D,D,T,D,T
chr14,21825473,21825473,A,G,P270959_S,SUPT16H,Missense_Mutation,NM_007192,exon22,c.T2543C,p.V848A,SNP,SNVindel,exonic,SUPT16H,NA,nonsynonymous SNV,SUPT16H:NM_007192:exon22:c.T2543C:p.V848A,D,D,D,.,D,D
chr14,21884038,21884038,C,T,P270959_S,CHD8,Missense_Mutation,NM_001170629,exon6,c.G1745A,p.R582Q,SNP,SNVindel,exonic,CHD8,NA,nonsynonymous SNV,"CHD8:NM_001170629:exon6:c.G1745A:p.R582Q,CHD8:NM_020920:exon6:c.G908A:p.R303Q",D,D,D,T,D,T
chr14,23282151,23282151,C,T,P270959_S,SLC7A7,Missense_Mutation,NM_001126105,exon3,c.G457A,p.A153T,SNP,SNVindel,exonic,SLC7A7,NA,nonsynonymous SNV,"SLC7A7:NM_001126105:exon3:c.G457A:p.A153T,SLC7A7:NM_001126106:exon3:c.G457A:p.A153T",T,N,D,D,N,T
chr14,23415800,23415800,G,A,P270959_S,HAUS4,Silent,NM_001166270,exon9,c.C891T,p.T297T,SNP,SNVindel,exonic,HAUS4,NA,synonymous SNV,"HAUS4:NM_001166270:exon9:c.C891T:p.T297T,HAUS4:NM_001166269:exon10:c.C1026T:p.T342T,HAUS4:NM_017815:exon10:c.C1026T:p.T342T",NA,NA,NA,NA,NA,NA
chr14,23502839,23502839,C,T,P270959_S,PSMB5,Silent,NM_001144932,exon2,c.G243A,p.A81A,SNP,SNVindel,exonic,PSMB5,NA,synonymous SNV,"PSMB5:NM_001144932:exon2:c.G243A:p.A81A,PSMB5:NM_002797:exon2:c.G243A:p.A81A",NA,NA,NA,NA,NA,NA
chr14,51375611,51375611,T,C,P270959_S,PYGL,Missense_Mutation,NM_001163940,exon17,c.A2138G,p.D713G,SNP,SNVindel,exonic,PYGL,NA,nonsynonymous SNV,"PYGL:NM_001163940:exon17:c.A2138G:p.D713G,PYGL:NM_002863:exon18:c.A2240G:p.D747G",T,N,D,D,N,T
chr14,64470048,64470048,G,A,P270959_S,SYNE2,Missense_Mutation,NM_015180,exon30,c.G4397A,p.R1466Q,SNP,SNVindel,exonic,SYNE2,NA,nonsynonymous SNV,"SYNE2:NM_015180:exon30:c.G4397A:p.R1466Q,SYNE2:NM_182914:exon30:c.G4397A:p.R1466Q",D,D,D,T,D,T
chr14,64682064,64682064,C,T,P270959_S,SYNE2,Missense_Mutation,NM_182913,exon2,c.C296T,p.A99V,SNP,SNVindel,exonic,SYNE2,NA,nonsynonymous SNV,"SYNE2:NM_182913:exon2:c.C296T:p.A99V,SYNE2:NM_182914:exon107:c.C19394T:p.A6465V",T,N,D,T,N,T
chr14,65008283,65008283,G,A,P270959_S,HSPA2,Missense_Mutation,NM_021979,exon1,c.G716A,p.R239H,SNP,SNVindel,exonic,HSPA2,NA,nonsynonymous SNV,HSPA2:NM_021979:exon1:c.G716A:p.R239H,D,U,D,T,D,T
chr14,65210375,65210375,T,C,P270959_S,PLEKHG3,Missense_Mutation,NM_001308147,exon17,c.T3614C,p.V1205A,SNP,SNVindel,exonic,PLEKHG3,NA,nonsynonymous SNV,PLEKHG3:NM_001308147:exon17:c.T3614C:p.V1205A,D,D,D,T,D,T
chr14,65544747,65544747,C,T,P270959_S,MAX,Missense_Mutation,NM_145112,exon3,c.G152A,p.R51Q,SNP,SNVindel,exonic,MAX,NA,nonsynonymous SNV,"MAX:NM_145112:exon3:c.G152A:p.R51Q,MAX:NM_002382:exon4:c.G179A:p.R60Q,MAX:NM_145113:exon4:c.G179A:p.R60Q",D,D,D,D,D,D
chr14,69925187,69925187,C,T,P270959_S,SLC39A9,Silent,NM_001252148,exon6,c.C732T,p.G244G,SNP,SNVindel,exonic,SLC39A9,NA,synonymous SNV,"SLC39A9:NM_001252148:exon6:c.C732T:p.G244G,SLC39A9:NM_001330185:exon6:c.C603T:p.G201G,SLC39A9:NM_001252151:exon7:c.C447T:p.G149G,SLC39A9:NM_018375:exon7:c.C801T:p.G267G,SLC39A9:NM_001252152:exon8:c.C447T:p.G149G",NA,NA,NA,NA,NA,NA
chr14,70478229,70478229,C,T,P270959_S,SMOC1,Silent,NM_001034852,exon9,c.C885T,p.D295D,SNP,SNVindel,exonic,SMOC1,NA,synonymous SNV,"SMOC1:NM_001034852:exon9:c.C885T:p.D295D,SMOC1:NM_022137:exon9:c.C885T:p.D295D",NA,NA,NA,NA,NA,NA
chr14,71542932,71542932,G,A,P270959_S,PCNX1,Silent,NM_001308160,exon26,c.G4800A,p.S1600S,SNP,SNVindel,exonic,PCNX1,NA,synonymous SNV,"PCNX1:NM_001308160:exon26:c.G4800A:p.S1600S,PCNX1:NM_014982:exon28:c.G5133A:p.S1711S",NA,NA,NA,NA,NA,NA
chr14,73739210,73739210,C,T,P270959_S,PAPLN,Silent,NM_001365906,exon26,c.C3675T,p.T1225T,SNP,SNVindel,exonic,PAPLN,NA,synonymous SNV,"PAPLN:NM_001365906:exon26:c.C3675T:p.T1225T,PAPLN:NM_001365907:exon26:c.C3627T:p.T1209T,PAPLN:NM_173462:exon26:c.C3594T:p.T1198T",NA,NA,NA,NA,NA,NA
chr14,88967211,88967211,C,T,P270959_S,PTPN21,Missense_Mutation,NM_007039,exon8,c.G680A,p.S227N,SNP,SNVindel,exonic,PTPN21,NA,nonsynonymous SNV,PTPN21:NM_007039:exon8:c.G680A:p.S227N,T,D,D,D,N,T
chr14,91739992,91739992,A,T,P270959_S,CCDC88C,Silent,NM_001080414,exon30,c.T5064A,p.T1688T,SNP,SNVindel,exonic,CCDC88C,NA,synonymous SNV,CCDC88C:NM_001080414:exon30:c.T5064A:p.T1688T,NA,NA,NA,NA,NA,NA
chr14,93399178,93399178,C,T,P270959_S,CHGA,Silent,NM_001301690,exon6,c.C819T,p.S273S,SNP,SNVindel,exonic,CHGA,NA,synonymous SNV,"CHGA:NM_001301690:exon6:c.C819T:p.S273S,CHGA:NM_001275:exon7:c.C1272T:p.S424S",NA,NA,NA,NA,NA,NA
chr14,101348667,101348667,C,T,P270959_S,RTL1,Missense_Mutation,NM_001134888,exon1,c.G2459A,p.R820H,SNP,SNVindel,exonic,RTL1,NA,nonsynonymous SNV,RTL1:NM_001134888:exon1:c.G2459A:p.R820H,D,N,N,T,D,T
chr14,103352548,103352548,C,A,P270959_S,TRAF3,Missense_Mutation,NM_003300,exon6,c.C593A,p.P198H,SNP,SNVindel,exonic,TRAF3,NA,nonsynonymous SNV,"TRAF3:NM_003300:exon6:c.C593A:p.P198H,TRAF3:NM_145725:exon7:c.C593A:p.P198H,TRAF3:NM_145726:exon7:c.C593A:p.P198H",D,D,D,T,D,T
chr14,104642971,104642971,A,C,P270959_S,KIF26A,Missense_Mutation,NM_015656,exon12,c.A3846C,p.R1282S,SNP,SNVindel,exonic,KIF26A,NA,nonsynonymous SNV,KIF26A:NM_015656:exon12:c.A3846C:p.R1282S,D,.,D,D,D,D
chr14,105055100,105055100,C,T,P270959_S,C14orf180,Missense_Mutation,NM_001008404,exon5,c.C463T,p.R155C,SNP,SNVindel,exonic,C14orf180,NA,nonsynonymous SNV,"C14orf180:NM_001008404:exon5:c.C463T:p.R155C,C14orf180:NM_001286399:exon5:c.C419T:p.A140V,C14orf180:NM_001286400:exon5:c.C463T:p.R155C",D,N,D,.,D,T
chr14,105177971,105177971,G,A,P270959_S,INF2,Silent,NM_001031714,exon16,c.G2424A,p.A808A,SNP,SNVindel,exonic,INF2,NA,synonymous SNV,"INF2:NM_001031714:exon16:c.G2424A:p.A808A,INF2:NM_022489:exon16:c.G2424A:p.A808A",NA,NA,NA,NA,NA,NA
chr14,105409874,105409874,T,C,P270959_S,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.A11614G,p.K3872E,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.A11614G:p.K3872E,AHNAK2:NM_138420:exon7:c.A11914G:p.K3972E",D,.,N,T,D,T
chr14,105614456,105614456,C,T,P270959_S,JAG2,Missense_Mutation,NM_145159,exon16,c.G2131A,p.V711I,SNP,SNVindel,exonic,JAG2,NA,nonsynonymous SNV,"JAG2:NM_145159:exon16:c.G2131A:p.V711I,JAG2:NM_002226:exon17:c.G2245A:p.V749I",T,N,N,D,N,T
chr14,105936475,105936475,C,T,P270959_S,MTA1,Missense_Mutation,NM_004689,exon21,c.C2071T,p.R691C,SNP,SNVindel,exonic,MTA1,NA,nonsynonymous SNV,MTA1:NM_004689:exon21:c.C2071T:p.R691C,D,N,D,T,N,T
chr15,28273126,28273126,G,A,P270959_S,OCA2,Nonsense_Mutation,NM_000275,exon4,c.C406T,p.R136X,SNP,SNVindel,exonic,OCA2,NA,stopgain,"OCA2:NM_000275:exon4:c.C406T:p.R136X,OCA2:NM_001300984:exon4:c.C406T:p.R136X",.,N,A,.,.,.
chr15,28370192,28370192,G,A,P270959_S,HERC2,Missense_Mutation,NM_004667,exon84,c.C12950T,p.S4317L,SNP,SNVindel,exonic,HERC2,NA,nonsynonymous SNV,HERC2:NM_004667:exon84:c.C12950T:p.S4317L,D,D,D,T,D,D
chr15,28483301,28483301,G,A,P270959_S,HERC2,Missense_Mutation,NM_004667,exon25,c.C3811T,p.R1271W,SNP,SNVindel,exonic,HERC2,NA,nonsynonymous SNV,HERC2:NM_004667:exon25:c.C3811T:p.R1271W,D,D,D,T,D,D
chr15,28506050,28506050,A,G,P270959_S,HERC2,Missense_Mutation,NM_004667,exon16,c.T2189C,p.V730A,SNP,SNVindel,exonic,HERC2,NA,nonsynonymous SNV,HERC2:NM_004667:exon16:c.T2189C:p.V730A,D,D,D,D,D,D
chr15,40594499,40594499,C,T,P270959_S,PLCB2,Missense_Mutation,NM_001284297,exon5,c.G424A,p.A142T,SNP,SNVindel,exonic,PLCB2,NA,nonsynonymous SNV,"PLCB2:NM_001284297:exon5:c.G424A:p.A142T,PLCB2:NM_001284298:exon5:c.G424A:p.A142T,PLCB2:NM_001284299:exon5:c.G424A:p.A142T,PLCB2:NM_004573:exon5:c.G424A:p.A142T",T,N,D,T,N,T
chr15,40662193,40662193,G,A,P270959_S,DISP2,Missense_Mutation,NM_033510,exon8,c.G3880A,p.V1294I,SNP,SNVindel,exonic,DISP2,NA,nonsynonymous SNV,DISP2:NM_033510:exon8:c.G3880A:p.V1294I,T,D,N,T,N,T
chr15,41276054,41276054,C,G,P270959_S,INO80,Silent,NM_017553,exon34,c.G4143C,p.L1381L,SNP,SNVindel,exonic,INO80,NA,synonymous SNV,INO80:NM_017553:exon34:c.G4143C:p.L1381L,NA,NA,NA,NA,NA,NA
chr15,42292427,42292427,G,A,P270959_S,PLA2G4E,Missense_Mutation,NM_001206670,exon8,c.C727T,p.R243W,SNP,SNVindel,exonic,PLA2G4E,NA,nonsynonymous SNV,PLA2G4E:NM_001206670:exon8:c.C727T:p.R243W,T,U,N,T,N,T
chr15,42981734,42981734,C,T,P270959_S,STARD9,Missense_Mutation,NM_020759,exon23,c.C7958T,p.T2653M,SNP,SNVindel,exonic,STARD9,NA,nonsynonymous SNV,STARD9:NM_020759:exon23:c.C7958T:p.T2653M,T,N,N,T,N,T
chr15,43008924,43008924,G,A,P270959_S,STARD9,Missense_Mutation,NM_020759,exon27,c.G13334A,p.R4445Q,SNP,SNVindel,exonic,STARD9,NA,nonsynonymous SNV,STARD9:NM_020759:exon27:c.G13334A:p.R4445Q,T,.,N,T,N,T
chr15,43621779,43621779,G,A,P270959_S,LCMT2,Silent,NM_014793,exon1,c.C909T,p.C303C,SNP,SNVindel,exonic,LCMT2,NA,synonymous SNV,LCMT2:NM_014793:exon1:c.C909T:p.C303C,NA,NA,NA,NA,NA,NA
chr15,44961558,44961558,C,T,P270959_S,PATL2,Silent,NM_001330283,exon10,c.G417A,p.P139P,SNP,SNVindel,exonic,PATL2,NA,synonymous SNV,"PATL2:NM_001330283:exon10:c.G417A:p.P139P,PATL2:NM_001145112:exon11:c.G984A:p.P328P",NA,NA,NA,NA,NA,NA
chr15,49031107,49031107,G,A,P270959_S,CEP152,Missense_Mutation,NM_014985,exon26,c.C4304T,p.P1435L,SNP,SNVindel,exonic,CEP152,NA,nonsynonymous SNV,"CEP152:NM_014985:exon26:c.C4304T:p.P1435L,CEP152:NM_001194998:exon27:c.C4472T:p.P1491L",T,N,N,T,N,T
chr15,56134297,56134297,C,T,P270959_S,NEDD4,Missense_Mutation,NM_198400,exon12,c.G2714A,p.R905Q,SNP,SNVindel,exonic,NEDD4,NA,nonsynonymous SNV,"NEDD4:NM_198400:exon12:c.G2714A:p.R905Q,NEDD4:NM_001284340:exon14:c.G2879A:p.R960Q,NEDD4:NM_001284338:exon15:c.G2930A:p.R977Q,NEDD4:NM_001284339:exon15:c.G2882A:p.R961Q,NEDD4:NM_001329212:exon19:c.G1232A:p.R411Q,NEDD4:NM_006154:exon19:c.G1673A:p.R558Q",T,D,D,T,D,T
chr15,64792055,64792055,C,T,P270959_S,ZNF609,Missense_Mutation,NM_015042,exon1,c.C437T,p.A146V,SNP,SNVindel,exonic,ZNF609,NA,nonsynonymous SNV,ZNF609:NM_015042:exon1:c.C437T:p.A146V,T,N,D,T,N,T
chr15,65490660,65490660,C,T,P270959_S,CILP,Missense_Mutation,NM_003613,exon9,c.G1964A,p.R655Q,SNP,SNVindel,exonic,CILP,NA,nonsynonymous SNV,CILP:NM_003613:exon9:c.G1964A:p.R655Q,T,N,D,T,D,T
chr15,65681660,65681660,G,A,P270959_S,IGDCC4,Missense_Mutation,NM_020962,exon14,c.C2498T,p.P833L,SNP,SNVindel,exonic,IGDCC4,NA,nonsynonymous SNV,IGDCC4:NM_020962:exon14:c.C2498T:p.P833L,D,D,D,T,D,T
chr15,73562533,73562533,G,A,P270959_S,NEO1,Missense_Mutation,NM_001172623,exon17,c.G2677A,p.V893I,SNP,SNVindel,exonic,NEO1,NA,nonsynonymous SNV,"NEO1:NM_001172623:exon17:c.G2677A:p.V893I,NEO1:NM_001172624:exon17:c.G2677A:p.V893I,NEO1:NM_002499:exon17:c.G2677A:p.V893I",T,N,D,T,N,T
chr15,74180825,74180825,G,A,P270959_S,TBC1D21,Missense_Mutation,NM_001286434,exon9,c.G841A,p.V281M,SNP,SNVindel,exonic,TBC1D21,NA,nonsynonymous SNV,"TBC1D21:NM_001286434:exon9:c.G841A:p.V281M,TBC1D21:NM_153356:exon10:c.G949A:p.V317M",T,N,N,T,N,T
chr15,74425198,74425198,G,A,P270959_S,ISLR2,Missense_Mutation,NM_020851,exon3,c.G103A,p.A35T,SNP,SNVindel,exonic,ISLR2,NA,nonsynonymous SNV,"ISLR2:NM_020851:exon3:c.G103A:p.A35T,ISLR2:NM_001130136:exon4:c.G103A:p.A35T,ISLR2:NM_001130137:exon4:c.G103A:p.A35T,ISLR2:NM_001130138:exon4:c.G103A:p.A35T",T,D,D,T,N,T
chr15,75188569,75188569,C,T,P270959_S,MPI,Silent,NM_001289156,exon5,c.C597T,p.I199I,SNP,SNVindel,exonic,MPI,NA,synonymous SNV,"MPI:NM_001289156:exon5:c.C597T:p.I199I,MPI:NM_001289157:exon5:c.C564T:p.I188I,MPI:NM_001289155:exon6:c.C747T:p.I249I,MPI:NM_001330372:exon6:c.C687T:p.I229I,MPI:NM_002435:exon6:c.C747T:p.I249I",NA,NA,NA,NA,NA,NA
chr15,81636343,81636343,G,A,P270959_S,TMC3,Missense_Mutation,NM_001080532,exon14,c.C1562T,p.A521V,SNP,SNVindel,exonic,TMC3,NA,nonsynonymous SNV,TMC3:NM_001080532:exon14:c.C1562T:p.A521V,T,D,D,T,N,T
chr15,83350313,83350313,C,T,P270959_S,AP3B2,Missense_Mutation,NM_001278511,exon4,c.G284A,p.R95H,SNP,SNVindel,exonic,AP3B2,NA,nonsynonymous SNV,"AP3B2:NM_001278511:exon4:c.G284A:p.R95H,AP3B2:NM_001278512:exon5:c.G380A:p.R127H,AP3B2:NM_004644:exon5:c.G380A:p.R127H",D,D,D,T,D,T
chr15,84581936,84581936,C,T,P270959_S,ADAMTSL3,Missense_Mutation,NM_001301110,exon16,c.C1793T,p.T598M,SNP,SNVindel,exonic,ADAMTSL3,NA,nonsynonymous SNV,"ADAMTSL3:NM_001301110:exon16:c.C1793T:p.T598M,ADAMTSL3:NM_207517:exon16:c.C1793T:p.T598M",D,N,D,T,D,T
chr15,89074317,89074317,C,T,P270959_S,DET1,Missense_Mutation,NM_001144074,exon2,c.G620A,p.R207H,SNP,SNVindel,exonic,DET1,NA,nonsynonymous SNV,"DET1:NM_001144074:exon2:c.G620A:p.R207H,DET1:NM_001321596:exon3:c.G620A:p.R207H,DET1:NM_017996:exon3:c.G653A:p.R218H,DET1:NM_001321594:exon4:c.G518A:p.R173H",D,D,D,.,D,T
chr15,90195907,90195907,G,A,P270959_S,KIF7,Silent,NM_198525,exon2,c.C255T,p.G85G,SNP,SNVindel,exonic,KIF7,NA,synonymous SNV,KIF7:NM_198525:exon2:c.C255T:p.G85G,NA,NA,NA,NA,NA,NA
chr15,90631834,90631834,G,A,P270959_S,IDH2,Silent,NM_001290114,exon2,c.C129T,p.H43H,SNP,SNVindel,exonic,IDH2,NA,synonymous SNV,"IDH2:NM_001290114:exon2:c.C129T:p.H43H,IDH2:NM_001289910:exon4:c.C363T:p.H121H,IDH2:NM_002168:exon4:c.C519T:p.H173H",NA,NA,NA,NA,NA,NA
chr15,92706274,92706274,A,G,P270959_S,SLCO3A1,Missense_Mutation,NM_013272,exon10,c.A2042G,p.D681G,SNP,SNVindel,exonic,SLCO3A1,NA,nonsynonymous SNV,SLCO3A1:NM_013272:exon10:c.A2042G:p.D681G,T,N,D,T,N,T
chr15,99472873,99472873,G,A,P270959_S,IGF1R,Missense_Mutation,NM_000875,exon14,c.G2869A,p.V957I,SNP,SNVindel,exonic,IGF1R,NA,nonsynonymous SNV,"IGF1R:NM_000875:exon14:c.G2869A:p.V957I,IGF1R:NM_001291858:exon14:c.G2866A:p.V956I",T,N,D,T,N,T
chr16,553023,553023,G,A,P270959_S,RAB11FIP3,Missense_Mutation,NM_001142272,exon5,c.G391A,p.A131T,SNP,SNVindel,exonic,RAB11FIP3,NA,nonsynonymous SNV,"RAB11FIP3:NM_001142272:exon5:c.G391A:p.A131T,RAB11FIP3:NM_014700:exon7:c.G1321A:p.A441T,RAB11FIP3:NM_001370401:exon8:c.G1456A:p.A486T",T,.,N,.,N,T
chr16,601613,601613,C,T,P270959_S,CAPN15,Missense_Mutation,NM_005632,exon9,c.C2294T,p.P765L,SNP,SNVindel,exonic,CAPN15,NA,nonsynonymous SNV,CAPN15:NM_005632:exon9:c.C2294T:p.P765L,D,D,D,T,D,T
chr16,630970,630970,C,T,P270959_S,PIGQ,Missense_Mutation,NM_004204,exon9,c.C1529T,p.A510V,SNP,SNVindel,exonic,PIGQ,NA,nonsynonymous SNV,"PIGQ:NM_004204:exon9:c.C1529T:p.A510V,PIGQ:NM_148920:exon9:c.C1529T:p.A510V",T,D,D,T,N,T
chr16,706871,706871,C,T,P270959_S,WDR90,Missense_Mutation,NM_145294,exon19,c.C2342T,p.T781M,SNP,SNVindel,exonic,WDR90,NA,nonsynonymous SNV,WDR90:NM_145294:exon19:c.C2342T:p.T781M,D,U,N,T,N,T
chr16,712017,712017,G,A,P270959_S,WDR90,Missense_Mutation,NM_145294,exon32,c.G3991A,p.G1331S,SNP,SNVindel,exonic,WDR90,NA,nonsynonymous SNV,WDR90:NM_145294:exon32:c.G3991A:p.G1331S,T,N,N,T,N,T
chr16,733058,733058,C,T,P270959_S,JMJD8,Silent,NM_001323920,exon7,c.G519A,p.T173T,SNP,SNVindel,exonic,JMJD8,NA,synonymous SNV,"JMJD8:NM_001323920:exon7:c.G519A:p.T173T,JMJD8:NM_001323922:exon7:c.G519A:p.T173T,JMJD8:NM_001005920:exon8:c.G609A:p.T203T,JMJD8:NM_001323918:exon8:c.G609A:p.T203T",NA,NA,NA,NA,NA,NA
chr16,745508,745508,C,A,P270959_S,FBXL16,Missense_Mutation,NM_153350,exon3,c.G1049T,p.S350I,SNP,SNVindel,exonic,FBXL16,NA,nonsynonymous SNV,FBXL16:NM_153350:exon3:c.G1049T:p.S350I,T,D,D,T,N,T
chr16,815568,815568,G,A,P270959_S,MSLN,Missense_Mutation,NM_013404,exon9,c.G746A,p.R249Q,SNP,SNVindel,exonic,MSLN,NA,nonsynonymous SNV,"MSLN:NM_013404:exon9:c.G746A:p.R249Q,MSLN:NM_001177355:exon10:c.G746A:p.R249Q,MSLN:NM_005823:exon10:c.G746A:p.R249Q",T,N,N,T,N,T
chr16,1020869,1020869,C,T,P270959_S,LMF1,Missense_Mutation,NM_001352020,exon1,c.G112A,p.A38T,SNP,SNVindel,exonic,LMF1,NA,nonsynonymous SNV,"LMF1:NM_001352020:exon1:c.G112A:p.A38T,LMF1:NM_022773:exon1:c.G112A:p.A38T",T,N,N,T,N,T
chr16,2024652,2024652,C,T,P270959_S,TBL3,Silent,NM_006453,exon5,c.C351T,p.F117F,SNP,SNVindel,exonic,TBL3,NA,synonymous SNV,TBL3:NM_006453:exon5:c.C351T:p.F117F,NA,NA,NA,NA,NA,NA
chr16,2052580,2052580,G,A,P270959_S,ZNF598,Missense_Mutation,NM_178167,exon6,c.C619T,p.R207C,SNP,SNVindel,exonic,ZNF598,NA,nonsynonymous SNV,ZNF598:NM_178167:exon6:c.C619T:p.R207C,D,D,D,T,D,T
chr16,2160861,2160861,C,T,P270959_S,PKD1,Missense_Mutation,NM_000296,exon15,c.G4307A,p.R1436Q,SNP,SNVindel,exonic,PKD1,NA,nonsynonymous SNV,"PKD1:NM_000296:exon15:c.G4307A:p.R1436Q,PKD1:NM_001009944:exon15:c.G4307A:p.R1436Q",T,N,N,T,N,T
chr16,2226129,2226129,C,T,P270959_S,TRAF7,Missense_Mutation,NM_032271,exon19,c.C1826T,p.S609L,SNP,SNVindel,exonic,TRAF7,NA,nonsynonymous SNV,TRAF7:NM_032271:exon19:c.C1826T:p.S609L,T,D,D,T,N,T
chr16,2334964,2334964,C,T,P270959_S,ABCA3,Silent,NM_001089,exon24,c.G3519A,p.T1173T,SNP,SNVindel,exonic,ABCA3,NA,synonymous SNV,ABCA3:NM_001089:exon24:c.G3519A:p.T1173T,NA,NA,NA,NA,NA,NA
chr16,2816762,2816762,G,A,P270959_S,SRRM2,Missense_Mutation,NM_016333,exon11,c.G6233A,p.R2078H,SNP,SNVindel,exonic,SRRM2,NA,nonsynonymous SNV,SRRM2:NM_016333:exon11:c.G6233A:p.R2078H,.,D,D,T,N,T
chr16,3170105,3170105,G,A,P270959_S,ZNF205,Missense_Mutation,NM_001042428,exon7,c.G1444A,p.G482S,SNP,SNVindel,exonic,ZNF205,NA,nonsynonymous SNV,"ZNF205:NM_001042428:exon7:c.G1444A:p.G482S,ZNF205:NM_001278158:exon7:c.G1444A:p.G482S,ZNF205:NM_003456:exon7:c.G1444A:p.G482S",D,D,D,T,D,T
chr16,4016811,4016811,G,A,P270959_S,ADCY9,Silent,NM_001116,exon11,c.C3027T,p.H1009H,SNP,SNVindel,exonic,ADCY9,NA,synonymous SNV,ADCY9:NM_001116:exon11:c.C3027T:p.H1009H,NA,NA,NA,NA,NA,NA
chr16,4242840,4242840,G,A,P270959_S,SRL,Missense_Mutation,NM_001098814,exon6,c.C736T,p.R246C,SNP,SNVindel,exonic,SRL,NA,nonsynonymous SNV,"SRL:NM_001098814:exon6:c.C736T:p.R246C,SRL:NM_001323667:exon7:c.C610T:p.R204C,SRL:NM_001323668:exon7:c.C610T:p.R204C",D,U,D,D,D,D
chr16,4245694,4245694,C,T,P270959_S,SRL,Missense_Mutation,NM_001098814,exon5,c.G470A,p.R157H,SNP,SNVindel,exonic,SRL,NA,nonsynonymous SNV,"SRL:NM_001098814:exon5:c.G470A:p.R157H,SRL:NM_001323667:exon6:c.G344A:p.R115H,SRL:NM_001323668:exon6:c.G344A:p.R115H",T,U,D,D,N,D
chr16,4731563,4731563,G,A,P270959_S,MGRN1,Missense_Mutation,NM_001142289,exon12,c.G1078A,p.V360I,SNP,SNVindel,exonic,MGRN1,NA,nonsynonymous SNV,"MGRN1:NM_001142289:exon12:c.G1078A:p.V360I,MGRN1:NM_001142291:exon12:c.G1078A:p.V360I,MGRN1:NM_001142290:exon13:c.G1144A:p.V382I,MGRN1:NM_015246:exon13:c.G1144A:p.V382I",T,N,N,T,N,T
chr16,5140266,5140266,G,A,P270959_S,EEF2KMT,Silent,NM_001289029,exon4,c.C378T,p.S126S,SNP,SNVindel,exonic,EEF2KMT,NA,synonymous SNV,"EEF2KMT:NM_001289029:exon4:c.C378T:p.S126S,EEF2KMT:NM_201598:exon5:c.C459T:p.S153S,EEF2KMT:NM_201400:exon6:c.C561T:p.S187S",NA,NA,NA,NA,NA,NA
chr16,11785668,11785668,C,T,P270959_S,TXNDC11,Missense_Mutation,NM_001324025,exon6,c.G22A,p.V8M,SNP,SNVindel,exonic,TXNDC11,NA,nonsynonymous SNV,"TXNDC11:NM_001324025:exon6:c.G22A:p.V8M,TXNDC11:NM_001324022:exon7:c.G736A:p.V246M,TXNDC11:NM_001324024:exon7:c.G22A:p.V8M,TXNDC11:NM_015914:exon8:c.G1378A:p.V460M,TXNDC11:NM_001303447:exon9:c.G1459A:p.V487M",T,N,N,T,N,T
chr16,11856531,11856531,G,A,P270959_S,ZC3H7A,Missense_Mutation,NM_014153,exon17,c.C2075T,p.A692V,SNP,SNVindel,exonic,ZC3H7A,NA,nonsynonymous SNV,ZC3H7A:NM_014153:exon17:c.C2075T:p.A692V,T,N,N,T,N,T
chr16,15141313,15141313,G,A,P270959_S,NTAN1,Silent,NM_001270767,exon2,c.C30T,p.H10H,SNP,SNVindel,exonic,NTAN1,NA,synonymous SNV,"NTAN1:NM_001270767:exon2:c.C30T:p.H10H,NTAN1:NM_001270766:exon3:c.C30T:p.H10H,NTAN1:NM_173474:exon4:c.C345T:p.H115H",NA,NA,NA,NA,NA,NA
chr16,19451505,19451505,G,A,P270959_S,TMC5,Missense_Mutation,NM_001105248,exon3,c.G145A,p.G49S,SNP,SNVindel,exonic,TMC5,NA,nonsynonymous SNV,"TMC5:NM_001105248:exon3:c.G145A:p.G49S,TMC5:NM_001105249:exon3:c.G145A:p.G49S,TMC5:NM_001261841:exon3:c.G145A:p.G49S,TMC5:NM_001308161:exon3:c.G145A:p.G49S",T,N,N,T,N,T
chr16,19883671,19883671,G,A,P270959_S,GPRC5B,Missense_Mutation,NM_001304771,exon2,c.C890T,p.A297V,SNP,SNVindel,exonic,GPRC5B,NA,nonsynonymous SNV,"GPRC5B:NM_001304771:exon2:c.C890T:p.A297V,GPRC5B:NM_016235:exon2:c.C497T:p.A166V",D,D,D,D,D,T
chr16,21212704,21212704,G,A,P270959_S,ZP2,Silent,NM_001290104,exon15,c.C1653T,p.N551N,SNP,SNVindel,exonic,ZP2,NA,synonymous SNV,"ZP2:NM_001290104:exon15:c.C1653T:p.N551N,ZP2:NM_003460:exon15:c.C1680T:p.N560N",NA,NA,NA,NA,NA,NA
chr16,22144356,22144356,G,A,P270959_S,VWA3A,Missense_Mutation,NM_173615,exon20,c.G2008A,p.A670T,SNP,SNVindel,exonic,VWA3A,NA,nonsynonymous SNV,VWA3A:NM_173615:exon20:c.G2008A:p.A670T,T,N,N,T,N,T
chr16,27221794,27221794,C,T,P270959_S,KDM8,Missense_Mutation,NM_001145348,exon2,c.C464T,p.A155V,SNP,SNVindel,exonic,KDM8,NA,nonsynonymous SNV,"KDM8:NM_001145348:exon2:c.C464T:p.A155V,KDM8:NM_024773:exon2:c.C350T:p.A117V",T,N,D,T,N,T
chr16,28950059,28950059,C,T,P270959_S,CD19,Missense_Mutation,NM_001178098,exon13,c.C1552T,p.R518W,SNP,SNVindel,exonic,CD19,NA,nonsynonymous SNV,"CD19:NM_001178098:exon13:c.C1552T:p.R518W,CD19:NM_001770:exon13:c.C1549T:p.R517W",D,N,N,T,D,T
chr16,30393499,30393499,C,T,P270959_S,SEPTIN1,Silent,NM_001365977,exon3,c.G111A,p.G37G,SNP,SNVindel,exonic,SEPTIN1,NA,synonymous SNV,"SEPTIN1:NM_001365977:exon3:c.G111A:p.G37G,SEPTIN1:NM_052838:exon4:c.G111A:p.G37G",NA,NA,NA,NA,NA,NA
chr16,30616202,30616202,G,A,P270959_S,ZNF689,Missense_Mutation,NM_138447,exon3,c.C886T,p.R296C,SNP,SNVindel,exonic,ZNF689,NA,nonsynonymous SNV,ZNF689:NM_138447:exon3:c.C886T:p.R296C,D,D,D,T,D,T
chr16,30779838,30779838,C,T,P270959_S,RNF40,Nonsense_Mutation,NM_001207034,exon11,c.C1666T,p.R556X,SNP,SNVindel,exonic,RNF40,NA,stopgain,"RNF40:NM_001207034:exon11:c.C1666T:p.R556X,RNF40:NM_001207033:exon13:c.C1966T:p.R656X,RNF40:NM_001286572:exon13:c.C1966T:p.R656X,RNF40:NM_014771:exon13:c.C1966T:p.R656X",.,N,A,.,.,.
chr16,31335782,31335782,G,A,P270959_S,ITGAM,Missense_Mutation,NM_000632,exon17,c.G2065A,p.A689T,SNP,SNVindel,exonic,ITGAM,NA,nonsynonymous SNV,"ITGAM:NM_000632:exon17:c.G2065A:p.A689T,ITGAM:NM_001145808:exon17:c.G2068A:p.A690T",D,.,N,T,D,T
chr16,48125076,48125076,C,T,P270959_S,ABCC12,Silent,NM_033226,exon23,c.G3240A,p.T1080T,SNP,SNVindel,exonic,ABCC12,NA,synonymous SNV,ABCC12:NM_033226:exon23:c.G3240A:p.T1080T,NA,NA,NA,NA,NA,NA
chr16,56536253,56536253,G,T,P270959_S,BBS2,Silent,NM_031885,exon9,c.C1056A,p.L352L,SNP,SNVindel,exonic,BBS2,NA,synonymous SNV,BBS2:NM_031885:exon9:c.C1056A:p.L352L,NA,NA,NA,NA,NA,NA
chr16,56906321,56906321,C,T,P270959_S,SLC12A3,Missense_Mutation,NM_000339,exon7,c.C911T,p.T304M,SNP,SNVindel,exonic,SLC12A3,NA,nonsynonymous SNV,"SLC12A3:NM_000339:exon7:c.C911T:p.T304M,SLC12A3:NM_001126107:exon7:c.C908T:p.T303M,SLC12A3:NM_001126108:exon7:c.C911T:p.T304M",D,D,D,D,D,D
chr16,57059356,57059356,G,A,P270959_S,NLRC5,Silent,NM_032206,exon5,c.G501A,p.G167G,SNP,SNVindel,exonic,NLRC5,NA,synonymous SNV,"NLRC5:NM_032206:exon5:c.G501A:p.G167G,NLRC5:NM_001330552:exon6:c.G501A:p.G167G",NA,NA,NA,NA,NA,NA
chr16,57284324,57284324,C,T,P270959_S,ARL2BP,Missense_Mutation,NM_012106,exon5,c.C295T,p.H99Y,SNP,SNVindel,exonic,ARL2BP,NA,nonsynonymous SNV,ARL2BP:NM_012106:exon5:c.C295T:p.H99Y,D,U,D,T,N,T
chr16,66670389,66670389,C,T,P270959_S,CMTM4,Silent,NM_178818,exon2,c.G282A,p.A94A,SNP,SNVindel,exonic,CMTM4,NA,synonymous SNV,"CMTM4:NM_178818:exon2:c.G282A:p.A94A,CMTM4:NM_181521:exon2:c.G282A:p.A94A",NA,NA,NA,NA,NA,NA
chr16,66919605,66919605,G,A,P270959_S,PDP2,Missense_Mutation,NM_001329929,exon2,c.G1418A,p.R473Q,SNP,SNVindel,exonic,PDP2,NA,nonsynonymous SNV,"PDP2:NM_001329929:exon2:c.G1418A:p.R473Q,PDP2:NM_001329930:exon2:c.G1418A:p.R473Q,PDP2:NM_001329931:exon2:c.G1418A:p.R473Q,PDP2:NM_001329934:exon2:c.G1418A:p.R473Q,PDP2:NM_020786:exon2:c.G1418A:p.R473Q,PDP2:NM_001329928:exon3:c.G1418A:p.R473Q,PDP2:NM_001329932:exon3:c.G1418A:p.R473Q,PDP2:NM_001329933:exon3:c.G1418A:p.R473Q",D,D,N,T,N,T
chr16,67719352,67719352,G,A,P270959_S,GFOD2,Silent,NM_001243650,exon2,c.C267T,p.P89P,SNP,SNVindel,exonic,GFOD2,NA,synonymous SNV,GFOD2:NM_001243650:exon2:c.C267T:p.P89P,NA,NA,NA,NA,NA,NA
chr16,68024020,68024020,G,A,P270959_S,DPEP2,Silent,NM_001324159,exon6,c.C450T,p.G150G,SNP,SNVindel,exonic,DPEP2,NA,synonymous SNV,"DPEP2:NM_001324159:exon6:c.C450T:p.G150G,DPEP2:NM_001369657:exon7:c.C924T:p.G308G,DPEP2:NM_022355:exon8:c.C924T:p.G308G",NA,NA,NA,NA,NA,NA
chr16,68714935,68714935,C,T,P270959_S,CDH3,Missense_Mutation,NM_001317196,exon7,c.C767T,p.T256M,SNP,SNVindel,exonic,CDH3,NA,nonsynonymous SNV,"CDH3:NM_001317196:exon7:c.C767T:p.T256M,CDH3:NM_001317195:exon8:c.C932T:p.T311M,CDH3:NM_001793:exon8:c.C932T:p.T311M",D,D,D,T,D,T
chr16,68941442,68941442,C,T,P270959_S,TANGO6,Silent,NM_024562,exon10,c.C1764T,p.C588C,SNP,SNVindel,exonic,TANGO6,NA,synonymous SNV,TANGO6:NM_024562:exon10:c.C1764T:p.C588C,NA,NA,NA,NA,NA,NA
chr16,70190398,70190398,C,T,P270959_S,PDPR,Silent,NM_001322118,exon17,c.C1956T,p.R652R,SNP,SNVindel,exonic,PDPR,NA,synonymous SNV,"PDPR:NM_001322118:exon17:c.C1956T:p.R652R,PDPR:NM_001322119:exon17:c.C1050T:p.R350R,PDPR:NM_001322117:exon19:c.C2256T:p.R752R,PDPR:NM_017990:exon19:c.C2256T:p.R752R",NA,NA,NA,NA,NA,NA
chr16,70889175,70889175,C,T,P270959_S,HYDIN,Missense_Mutation,NM_001270974,exon73,c.G12299A,p.R4100K,SNP,SNVindel,exonic,HYDIN,NA,nonsynonymous SNV,HYDIN:NM_001270974:exon73:c.G12299A:p.R4100K,T,U,N,T,N,T
chr16,72141583,72141583,C,T,P270959_S,DHX38,Missense_Mutation,NM_014003,exon21,c.C2849T,p.P950L,SNP,SNVindel,exonic,DHX38,NA,nonsynonymous SNV,DHX38:NM_014003:exon21:c.C2849T:p.P950L,D,D,D,T,D,D
chr16,84215860,84215860,T,C,P270959_S,TAF1C,Silent,NM_001243156,exon7,c.A669G,p.T223T,SNP,SNVindel,exonic,TAF1C,NA,synonymous SNV,"TAF1C:NM_001243156:exon7:c.A669G:p.T223T,TAF1C:NM_005679:exon7:c.A669G:p.T223T,TAF1C:NM_139353:exon7:c.A468G:p.T156T",NA,NA,NA,NA,NA,NA
chr16,88497373,88497373,C,T,P270959_S,ZNF469,Silent,NM_001367624,exon1,c.C3495T,p.P1165P,SNP,SNVindel,exonic,ZNF469,NA,synonymous SNV,ZNF469:NM_001367624:exon1:c.C3495T:p.P1165P,NA,NA,NA,NA,NA,NA
chr16,88599343,88599343,G,T,P270959_S,ZFPM1,Missense_Mutation,NM_153813,exon9,c.G1189T,p.D397Y,SNP,SNVindel,exonic,ZFPM1,NA,nonsynonymous SNV,ZFPM1:NM_153813:exon9:c.G1189T:p.D397Y,D,U,D,T,D,T
chr16,89256759,89256759,C,T,P270959_S,CDH15,Missense_Mutation,NM_004933,exon8,c.C1087T,p.R363C,SNP,SNVindel,exonic,CDH15,NA,nonsynonymous SNV,CDH15:NM_004933:exon8:c.C1087T:p.R363C,D,U,N,T,N,T
chr16,89598338,89598338,C,T,P270959_S,SPG7,Silent,NM_001363850,exon8,c.C1014T,p.G338G,SNP,SNVindel,exonic,SPG7,NA,synonymous SNV,"SPG7:NM_001363850:exon8:c.C1014T:p.G338G,SPG7:NM_003119:exon8:c.C1014T:p.G338G,SPG7:NM_199367:exon8:c.C1014T:p.G338G",NA,NA,NA,NA,NA,NA
chr16,89603268,89603268,C,T,P270959_S,SPG7,Missense_Mutation,NM_199367,exon10,c.C1420T,p.R474W,SNP,SNVindel,exonic,SPG7,NA,nonsynonymous SNV,SPG7:NM_199367:exon10:c.C1420T:p.R474W,T,.,N,D,N,T
chr16,89962463,89962463,C,T,P270959_S,TCF25,Missense_Mutation,NM_014972,exon9,c.C994T,p.R332W,SNP,SNVindel,exonic,TCF25,NA,nonsynonymous SNV,TCF25:NM_014972:exon9:c.C994T:p.R332W,D,D,D,.,D,D
chr16,90109623,90109623,G,A,P270959_S,GAS8,Missense_Mutation,NM_001286208,exon10,c.G731A,p.R244H,SNP,SNVindel,exonic,GAS8,NA,nonsynonymous SNV,"GAS8:NM_001286208:exon10:c.G731A:p.R244H,GAS8:NM_001286205:exon11:c.G1058A:p.R353H,GAS8:NM_001286209:exon11:c.G1232A:p.R411H,GAS8:NM_001481:exon11:c.G1307A:p.R436H",D,N,D,T,D,T
chr17,1494178,1494178,G,A,P270959_S,SLC43A2,Silent,NM_001284499,exon5,c.C585T,p.C195C,SNP,SNVindel,exonic,SLC43A2,NA,synonymous SNV,"SLC43A2:NM_001284499:exon5:c.C585T:p.C195C,SLC43A2:NM_001284498:exon9:c.C996T:p.C332C,SLC43A2:NM_001321364:exon9:c.C996T:p.C332C,SLC43A2:NM_001321365:exon9:c.C996T:p.C332C,SLC43A2:NM_152346:exon9:c.C996T:p.C332C",NA,NA,NA,NA,NA,NA
chr17,1637421,1637421,G,A,P270959_S,WDR81,Missense_Mutation,NM_001163673,exon7,c.G1481A,p.R494H,SNP,SNVindel,exonic,WDR81,NA,nonsynonymous SNV,"WDR81:NM_001163673:exon7:c.G1481A:p.R494H,WDR81:NM_001163809:exon7:c.G5090A:p.R1697H,WDR81:NM_001163811:exon7:c.G1409A:p.R470H,WDR81:NM_152348:exon8:c.G1937A:p.R646H",D,N,D,D,D,D
chr17,1960135,1960135,G,A,P270959_S,HIC1,Missense_Mutation,NM_001098202,exon2,c.G208A,p.A70T,SNP,SNVindel,exonic,HIC1,NA,nonsynonymous SNV,"HIC1:NM_001098202:exon2:c.G208A:p.A70T,HIC1:NM_006497:exon2:c.G151A:p.A51T",T,.,N,T,N,T
chr17,2290471,2290471,G,A,P270959_S,MNT,Silent,NM_020310,exon6,c.C1473T,p.I491I,SNP,SNVindel,exonic,MNT,NA,synonymous SNV,MNT:NM_020310:exon6:c.C1473T:p.I491I,NA,NA,NA,NA,NA,NA
chr17,2597527,2597527,G,A,P270959_S,CLUH,Missense_Mutation,NM_001366661,exon18,c.C2981T,p.A994V,SNP,SNVindel,exonic,CLUH,NA,nonsynonymous SNV,"CLUH:NM_001366661:exon18:c.C2981T:p.A994V,CLUH:NM_001366662:exon18:c.C2864T:p.A955V,CLUH:NM_015229:exon18:c.C2978T:p.A993V",T,D,D,T,N,T
chr17,3629371,3629371,C,T,P270959_S,HASPIN,Silent,NM_031965,exon1,c.C2142T,p.D714D,SNP,SNVindel,exonic,HASPIN,NA,synonymous SNV,HASPIN:NM_031965:exon1:c.C2142T:p.D714D,NA,NA,NA,NA,NA,NA
chr17,3854680,3854680,G,A,P270959_S,ATP2A3,Missense_Mutation,NM_005173,exon5,c.C328T,p.R110C,SNP,SNVindel,exonic,ATP2A3,NA,nonsynonymous SNV,"ATP2A3:NM_005173:exon5:c.C328T:p.R110C,ATP2A3:NM_174953:exon5:c.C328T:p.R110C,ATP2A3:NM_174954:exon5:c.C328T:p.R110C,ATP2A3:NM_174955:exon5:c.C328T:p.R110C,ATP2A3:NM_174956:exon5:c.C328T:p.R110C,ATP2A3:NM_174957:exon5:c.C328T:p.R110C,ATP2A3:NM_174958:exon5:c.C328T:p.R110C",D,N,D,D,D,D
chr17,3920918,3920918,C,T,P270959_S,ZZEF1,Missense_Mutation,NM_015113,exon48,c.G7748A,p.R2583H,SNP,SNVindel,exonic,ZZEF1,NA,nonsynonymous SNV,ZZEF1:NM_015113:exon48:c.G7748A:p.R2583H,D,D,D,T,N,T
chr17,3955402,3955402,G,A,P270959_S,ZZEF1,Silent,NM_015113,exon35,c.C5463T,p.D1821D,SNP,SNVindel,exonic,ZZEF1,NA,synonymous SNV,ZZEF1:NM_015113:exon35:c.C5463T:p.D1821D,NA,NA,NA,NA,NA,NA
chr17,4578423,4578423,A,T,P270959_S,PELP1,Missense_Mutation,NM_014389,exon11,c.T1225A,p.W409R,SNP,SNVindel,exonic,PELP1,NA,nonsynonymous SNV,"PELP1:NM_014389:exon11:c.T1225A:p.W409R,PELP1:NM_001278241:exon12:c.T784A:p.W262R",D,D,D,T,D,T
chr17,6329127,6329127,G,A,P270959_S,AIPL1,Missense_Mutation,NM_001033054,exon5,c.C619T,p.R207C,SNP,SNVindel,exonic,AIPL1,NA,nonsynonymous SNV,"AIPL1:NM_001033054:exon5:c.C619T:p.R207C,AIPL1:NM_001033055:exon5:c.C628T:p.R210C,AIPL1:NM_001285399:exon6:c.C772T:p.R258C,AIPL1:NM_001285400:exon6:c.C742T:p.R248C,AIPL1:NM_001285401:exon6:c.C736T:p.R246C,AIPL1:NM_001285402:exon6:c.C691T:p.R231C,AIPL1:NM_014336:exon6:c.C808T:p.R270C",D,D,D,D,D,D
chr17,6978411,6978411,C,T,P270959_S,CLEC10A,Missense_Mutation,NM_001330070,exon9,c.G832A,p.E278K,SNP,SNVindel,exonic,CLEC10A,NA,nonsynonymous SNV,"CLEC10A:NM_001330070:exon9:c.G832A:p.E278K,CLEC10A:NM_006344:exon9:c.G841A:p.E281K,CLEC10A:NM_182906:exon9:c.G913A:p.E305K",D,D,D,T,D,T
chr17,7144749,7144749,C,T,P270959_S,GABARAP,Missense_Mutation,NM_007278,exon3,c.G200A,p.R67Q,SNP,SNVindel,exonic,GABARAP,NA,nonsynonymous SNV,GABARAP:NM_007278:exon3:c.G200A:p.R67Q,D,D,D,T,D,T
chr17,7221232,7221232,C,T,P270959_S,NEURL4,Silent,NM_001005408,exon26,c.G4074A,p.P1358P,SNP,SNVindel,exonic,NEURL4,NA,synonymous SNV,"NEURL4:NM_001005408:exon26:c.G4074A:p.P1358P,NEURL4:NM_032442:exon26:c.G4080A:p.P1360P",NA,NA,NA,NA,NA,NA
chr17,7404927,7404927,G,A,P270959_S,POLR2A,Missense_Mutation,NM_000937,exon14,c.G2228A,p.R743H,SNP,SNVindel,exonic,POLR2A,NA,nonsynonymous SNV,POLR2A:NM_000937:exon14:c.G2228A:p.R743H,.,D,D,.,.,T
chr17,7479998,7479998,C,T,P270959_S,EIF4A1,Missense_Mutation,NM_001204510,exon5,c.C502T,p.R168W,SNP,SNVindel,exonic,EIF4A1,NA,nonsynonymous SNV,"EIF4A1:NM_001204510:exon5:c.C502T:p.R168W,EIF4A1:NM_001416:exon5:c.C502T:p.R168W",D,D,D,T,D,T
chr17,7534615,7534615,G,A,P270959_S,SHBG,Missense_Mutation,NM_001040,exon4,c.G491A,p.R164H,SNP,SNVindel,exonic,SHBG,NA,nonsynonymous SNV,"SHBG:NM_001040:exon4:c.G491A:p.R164H,SHBG:NM_001146279:exon4:c.G491A:p.R164H,SHBG:NM_001146280:exon4:c.G491A:p.R164H,SHBG:NM_001146281:exon4:c.G491A:p.R164H,SHBG:NM_001289113:exon4:c.G317A:p.R106H,SHBG:NM_001289114:exon4:c.G317A:p.R106H,SHBG:NM_001289115:exon4:c.G317A:p.R106H,SHBG:NM_001289116:exon4:c.G143A:p.R48H",T,N,N,T,N,T
chr17,7577121,7577121,G,A,P270959_S,TP53,Missense_Mutation,NM_001126115,exon4,c.C421T,p.R141C,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon4:c.C421T:p.R141C,TP53:NM_001126116:exon4:c.C421T:p.R141C,TP53:NM_001126117:exon4:c.C421T:p.R141C,TP53:NM_001276697:exon4:c.C340T:p.R114C,TP53:NM_001276698:exon4:c.C340T:p.R114C,TP53:NM_001276699:exon4:c.C340T:p.R114C,TP53:NM_001126118:exon7:c.C700T:p.R234C,TP53:NM_000546:exon8:c.C817T:p.R273C,TP53:NM_001126112:exon8:c.C817T:p.R273C,TP53:NM_001126113:exon8:c.C817T:p.R273C,TP53:NM_001126114:exon8:c.C817T:p.R273C,TP53:NM_001276695:exon8:c.C700T:p.R234C,TP53:NM_001276696:exon8:c.C700T:p.R234C,TP53:NM_001276760:exon8:c.C700T:p.R234C,TP53:NM_001276761:exon8:c.C700T:p.R234C",D,D,D,D,D,D
chr17,7643207,7643207,G,A,P270959_S,DNAH2,Missense_Mutation,NM_020877,exon9,c.G1327A,p.G443R,SNP,SNVindel,exonic,DNAH2,NA,nonsynonymous SNV,"DNAH2:NM_020877:exon9:c.G1327A:p.G443R,DNAH2:NM_001303270:exon11:c.G1573A:p.G525R",T,N,N,T,N,T
chr17,7646587,7646587,G,A,P270959_S,DNAH2,Silent,NM_001303270,exon14,c.G2277A,p.S759S,SNP,SNVindel,exonic,DNAH2,NA,synonymous SNV,DNAH2:NM_001303270:exon14:c.G2277A:p.S759S,NA,NA,NA,NA,NA,NA
chr17,7794346,7794346,C,T,P270959_S,CHD3,Missense_Mutation,NM_001005271,exon4,c.C650T,p.T217M,SNP,SNVindel,exonic,CHD3,NA,nonsynonymous SNV,"CHD3:NM_001005271:exon4:c.C650T:p.T217M,CHD3:NM_001005273:exon4:c.C473T:p.T158M,CHD3:NM_005852:exon4:c.C473T:p.T158M",D,D,D,D,D,D
chr17,8224208,8224208,A,G,P270959_S,ARHGEF15,Missense_Mutation,NM_025014,exon16,c.A2423G,p.E808G,SNP,SNVindel,exonic,ARHGEF15,NA,nonsynonymous SNV,"ARHGEF15:NM_025014:exon16:c.A2423G:p.E808G,ARHGEF15:NM_173728:exon16:c.A2423G:p.E808G",D,D,D,T,D,T
chr17,8296509,8296509,G,A,P270959_S,RNF222,Missense_Mutation,NM_001146684,exon3,c.C271T,p.P91S,SNP,SNVindel,exonic,RNF222,NA,nonsynonymous SNV,RNF222:NM_001146684:exon3:c.C271T:p.P91S,D,D,D,.,N,T
chr17,10427806,10427806,G,A,P270959_S,MYH2,Missense_Mutation,NM_001100112,exon35,c.C5152T,p.R1718C,SNP,SNVindel,exonic,MYH2,NA,nonsynonymous SNV,"MYH2:NM_001100112:exon35:c.C5152T:p.R1718C,MYH2:NM_017534:exon35:c.C5152T:p.R1718C",D,U,D,T,D,D
chr17,10728759,10728759,G,A,P270959_S,PIRT,Silent,NM_001101387,exon2,c.C204T,p.F68F,SNP,SNVindel,exonic,PIRT,NA,synonymous SNV,PIRT:NM_001101387:exon2:c.C204T:p.F68F,NA,NA,NA,NA,NA,NA
chr17,12916587,12916587,G,A,P270959_S,ELAC2,Missense_Mutation,NM_001165962,exon6,c.C496T,p.R166W,SNP,SNVindel,exonic,ELAC2,NA,nonsynonymous SNV,"ELAC2:NM_001165962:exon6:c.C496T:p.R166W,ELAC2:NM_018127:exon6:c.C496T:p.R166W,ELAC2:NM_173717:exon6:c.C496T:p.R166W",D,D,D,T,D,T
chr17,15974830,15974830,G,A,P270959_S,NCOR1,Missense_Mutation,NM_001190440,exon29,c.C4093T,p.R1365C,SNP,SNVindel,exonic,NCOR1,NA,nonsynonymous SNV,"NCOR1:NM_001190440:exon29:c.C4093T:p.R1365C,NCOR1:NM_006311:exon30:c.C4045T:p.R1349C",D,D,D,T,D,T
chr17,17719789,17719789,G,A,P270959_S,SREBF1,Missense_Mutation,NM_001321096,exon10,c.C1957T,p.H653Y,SNP,SNVindel,exonic,SREBF1,NA,nonsynonymous SNV,"SREBF1:NM_001321096:exon10:c.C1957T:p.H653Y,SREBF1:NM_004176:exon10:c.C2029T:p.H677Y,SREBF1:NM_001005291:exon11:c.C2119T:p.H707Y",D,D,D,T,D,T
chr17,17722689,17722689,G,A,P270959_S,SREBF1,Missense_Mutation,NM_001321096,exon4,c.C719T,p.A240V,SNP,SNVindel,exonic,SREBF1,NA,nonsynonymous SNV,"SREBF1:NM_001321096:exon4:c.C719T:p.A240V,SREBF1:NM_004176:exon4:c.C791T:p.A264V,SREBF1:NM_001005291:exon5:c.C881T:p.A294V",D,N,D,T,N,T
chr17,18042885,18042885,G,A,P270959_S,MYO15A,Missense_Mutation,NM_016239,exon18,c.G5171A,p.R1724H,SNP,SNVindel,exonic,MYO15A,NA,nonsynonymous SNV,MYO15A:NM_016239:exon18:c.G5171A:p.R1724H,T,.,D,D,D,D
chr17,18138848,18138848,C,T,P270959_S,LLGL1,Missense_Mutation,NM_004140,exon11,c.C1349T,p.T450M,SNP,SNVindel,exonic,LLGL1,NA,nonsynonymous SNV,LLGL1:NM_004140:exon11:c.C1349T:p.T450M,D,D,D,T,D,T
chr17,19584971,19584971,C,T,P270959_S,SLC47A2,Missense_Mutation,NM_001099646,exon14,c.G1177A,p.G393R,SNP,SNVindel,exonic,SLC47A2,NA,nonsynonymous SNV,"SLC47A2:NM_001099646:exon14:c.G1177A:p.G393R,SLC47A2:NM_152908:exon14:c.G1285A:p.G429R,SLC47A2:NM_001256663:exon15:c.G1219A:p.G407R",D,D,N,T,D,T
chr17,26089848,26089848,C,T,P270959_S,NOS2,Missense_Mutation,NM_000625,exon22,c.G2776A,p.A926T,SNP,SNVindel,exonic,NOS2,NA,nonsynonymous SNV,NOS2:NM_000625:exon22:c.G2776A:p.A926T,D,D,D,T,D,T
chr17,26101303,26101303,A,G,P270959_S,NOS2,Missense_Mutation,NM_000625,exon12,c.T1456C,p.S486P,SNP,SNVindel,exonic,NOS2,NA,nonsynonymous SNV,NOS2:NM_000625:exon12:c.T1456C:p.S486P,D,N,D,T,D,T
chr17,26696982,26696982,G,A,P270959_S,VTN,Silent,NM_000638,exon2,c.C150T,p.C50C,SNP,SNVindel,exonic,VTN,NA,synonymous SNV,VTN:NM_000638:exon2:c.C150T:p.C50C,NA,NA,NA,NA,NA,NA
chr17,26969030,26969030,G,A,P270959_S,KIAA0100,Missense_Mutation,NM_001363826,exon6,c.C214T,p.R72W,SNP,SNVindel,exonic,KIAA0100,NA,nonsynonymous SNV,"KIAA0100:NM_001363826:exon6:c.C214T:p.R72W,KIAA0100:NM_001321560:exon7:c.C643T:p.R215W,KIAA0100:NM_001321561:exon7:c.C643T:p.R215W,KIAA0100:NM_014680:exon7:c.C643T:p.R215W",T,N,N,T,N,T
chr17,27613225,27613225,C,A,P270959_S,NUFIP2,Missense_Mutation,NM_020772,exon2,c.G1787T,p.S596I,SNP,SNVindel,exonic,NUFIP2,NA,nonsynonymous SNV,NUFIP2:NM_020772:exon2:c.G1787T:p.S596I,D,D,D,.,N,T
chr17,28320268,28320268,C,T,P270959_S,EFCAB5,Missense_Mutation,NM_001145053,exon5,c.C685T,p.R229W,SNP,SNVindel,exonic,EFCAB5,NA,nonsynonymous SNV,"EFCAB5:NM_001145053:exon5:c.C685T:p.R229W,EFCAB5:NM_198529:exon5:c.C853T:p.R285W",D,D,N,T,D,T
chr17,28400169,28400169,A,T,P270959_S,EFCAB5,Silent,NM_001145053,exon14,c.A2481T,p.G827G,SNP,SNVindel,exonic,EFCAB5,NA,synonymous SNV,EFCAB5:NM_001145053:exon14:c.A2481T:p.G827G,NA,NA,NA,NA,NA,NA
chr17,34100375,34100375,C,T,P270959_S,MMP28,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MMP28,NA,unknown,UNKNOWN,.,N,.,T,.,T
chr17,35478408,35478408,A,T,P270959_S,ACACA,Missense_Mutation,NM_198837,exon48,c.T5858A,p.I1953N,SNP,SNVindel,exonic,ACACA,NA,nonsynonymous SNV,"ACACA:NM_198837:exon48:c.T5858A:p.I1953N,ACACA:NM_198838:exon49:c.T5798A:p.I1933N,ACACA:NM_198834:exon50:c.T6143A:p.I2048N,ACACA:NM_198836:exon50:c.T6032A:p.I2011N,ACACA:NM_198839:exon54:c.T6032A:p.I2011N",.,D,D,.,.,T
chr17,36482957,36482957,C,T,P270959_S,GPR179,Silent,NM_001004334,exon11,c.G6495A,p.T2165T,SNP,SNVindel,exonic,GPR179,NA,synonymous SNV,GPR179:NM_001004334:exon11:c.G6495A:p.T2165T,NA,NA,NA,NA,NA,NA
chr17,37074920,37074920,C,T,P270959_S,LASP1,Silent,NM_001271608,exon6,c.C507T,p.D169D,SNP,SNVindel,exonic,LASP1,NA,synonymous SNV,"LASP1:NM_001271608:exon6:c.C507T:p.D169D,LASP1:NM_006148:exon7:c.C675T:p.D225D",NA,NA,NA,NA,NA,NA
chr17,38146392,38146392,C,T,P270959_S,PSMD3,Missense_Mutation,NM_002809,exon6,c.C923T,p.T308M,SNP,SNVindel,exonic,PSMD3,NA,nonsynonymous SNV,PSMD3:NM_002809:exon6:c.C923T:p.T308M,D,D,D,T,N,T
chr17,38323817,38323817,G,A,P270959_S,CASC3,Missense_Mutation,NM_007359,exon9,c.G1603A,p.A535T,SNP,SNVindel,exonic,CASC3,NA,nonsynonymous SNV,CASC3:NM_007359:exon9:c.G1603A:p.A535T,D,N,D,.,N,T
chr17,38548864,38548864,G,A,P270959_S,TOP2A,Nonsense_Mutation,NM_001067,exon30,c.C3937T,p.R1313X,SNP,SNVindel,exonic,TOP2A,NA,stopgain,TOP2A:NM_001067:exon30:c.C3937T:p.R1313X,.,D,A,.,.,.
chr17,38793775,38793775,G,A,P270959_S,SMARCE1,Missense_Mutation,NM_003079,exon5,c.C206T,p.P69L,SNP,SNVindel,exonic,SMARCE1,NA,nonsynonymous SNV,SMARCE1:NM_003079:exon5:c.C206T:p.P69L,D,D,D,D,D,D
chr17,39432066,39432066,G,T,P270959_S,KRTAP9-7,Silent,NM_001277332,exon1,c.G117T,p.V39V,SNP,SNVindel,exonic,KRTAP9-7,NA,synonymous SNV,KRTAP9-7:NM_001277332:exon1:c.G117T:p.V39V,NA,NA,NA,NA,NA,NA
chr17,39521652,39521652,C,T,P270959_S,KRT33B,Missense_Mutation,NM_002279,exon4,c.G742A,p.A248T,SNP,SNVindel,exonic,KRT33B,NA,nonsynonymous SNV,KRT33B:NM_002279:exon4:c.G742A:p.A248T,T,N,N,D,N,T
chr17,40175842,40175842,G,A,P270959_S,NKIRAS2,Silent,NM_001001349,exon4,c.G507A,p.T169T,SNP,SNVindel,exonic,NKIRAS2,NA,synonymous SNV,"NKIRAS2:NM_001001349:exon4:c.G507A:p.T169T,NKIRAS2:NM_001144927:exon4:c.G507A:p.T169T,NKIRAS2:NM_001144928:exon4:c.G339A:p.T113T,NKIRAS2:NM_017595:exon4:c.G507A:p.T169T",NA,NA,NA,NA,NA,NA
chr17,40646370,40646370,C,T,P270959_S,ATP6V0A1,Missense_Mutation,NM_001130020,exon12,c.C1214T,p.T405M,SNP,SNVindel,exonic,ATP6V0A1,NA,nonsynonymous SNV,"ATP6V0A1:NM_001130020:exon12:c.C1214T:p.T405M,ATP6V0A1:NM_001130021:exon12:c.C1193T:p.T398M,ATP6V0A1:NM_005177:exon12:c.C1193T:p.T398M",D,D,D,D,D,D
chr17,40705464,40705464,C,T,P270959_S,HSD17B1,Silent,NM_000413,exon3,c.C273T,p.N91N,SNP,SNVindel,exonic,HSD17B1,NA,synonymous SNV,"HSD17B1:NM_000413:exon3:c.C273T:p.N91N,HSD17B1:NM_001330219:exon3:c.C273T:p.N91N",NA,NA,NA,NA,NA,NA
chr17,41180656,41180656,G,A,P270959_S,RND2,Missense_Mutation,NM_005440,exon5,c.G643A,p.E215K,SNP,SNVindel,exonic,RND2,NA,nonsynonymous SNV,RND2:NM_005440:exon5:c.G643A:p.E215K,.,N,D,T,.,T
chr17,41891401,41891401,C,A,P270959_S,MPP3,Missense_Mutation,NM_001330233,exon16,c.G1308T,p.Q436H,SNP,SNVindel,exonic,MPP3,NA,nonsynonymous SNV,"MPP3:NM_001330233:exon16:c.G1308T:p.Q436H,MPP3:NM_001932:exon16:c.G1233T:p.Q411H,MPP3:NM_001353080:exon17:c.G1257T:p.Q419H",T,D,D,T,N,T
chr17,41959740,41959740,C,T,P270959_S,MPP2,Missense_Mutation,NM_001278371,exon5,c.G560A,p.R187H,SNP,SNVindel,exonic,MPP2,NA,nonsynonymous SNV,"MPP2:NM_001278371:exon5:c.G560A:p.R187H,MPP2:NM_001278373:exon5:c.G560A:p.R187H,MPP2:NM_001278374:exon5:c.G176A:p.R59H,MPP2:NM_001278375:exon5:c.G560A:p.R187H,MPP2:NM_001278376:exon5:c.G644A:p.R215H,MPP2:NM_001278370:exon6:c.G728A:p.R243H,MPP2:NM_005374:exon6:c.G593A:p.R198H,MPP2:NM_001278372:exon7:c.G665A:p.R222H,MPP2:NM_001278381:exon7:c.G593A:p.R198H",D,.,D,T,N,T
chr17,42328845,42328845,C,T,P270959_S,SLC4A1,Missense_Mutation,NM_000342,exon18,c.G2423A,p.R808H,SNP,SNVindel,exonic,SLC4A1,NA,nonsynonymous SNV,SLC4A1:NM_000342:exon18:c.G2423A:p.R808H,D,D,D,D,D,D
chr17,42390512,42390512,C,T,P270959_S,RUNDC3A,Silent,NM_001144825,exon3,c.C264T,p.D88D,SNP,SNVindel,exonic,RUNDC3A,NA,synonymous SNV,"RUNDC3A:NM_001144825:exon3:c.C264T:p.D88D,RUNDC3A:NM_001144826:exon3:c.C249T:p.D83D,RUNDC3A:NM_006695:exon3:c.C264T:p.D88D",NA,NA,NA,NA,NA,NA
chr17,43247077,43247077,C,T,P270959_S,HEXIM2,Silent,NM_001303436,exon3,c.C828T,p.A276A,SNP,SNVindel,exonic,HEXIM2,NA,synonymous SNV,"HEXIM2:NM_001303436:exon3:c.C828T:p.A276A,HEXIM2:NM_001303438:exon3:c.C762T:p.A254A,HEXIM2:NM_001303439:exon3:c.C762T:p.A254A,HEXIM2:NM_001303440:exon3:c.C762T:p.A254A,HEXIM2:NM_001303442:exon3:c.C762T:p.A254A,HEXIM2:NM_001303444:exon3:c.C762T:p.A254A,HEXIM2:NM_001303437:exon4:c.C762T:p.A254A,HEXIM2:NM_001303441:exon4:c.C762T:p.A254A,HEXIM2:NM_001303443:exon4:c.C762T:p.A254A,HEXIM2:NM_144608:exon4:c.C762T:p.A254A",NA,NA,NA,NA,NA,NA
chr17,43344492,43344492,G,A,P270959_S,MAP3K14,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MAP3K14,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,45299177,45299177,G,A,P270959_S,MYL4,Missense_Mutation,NM_002476,exon4,c.G443A,p.G148D,SNP,SNVindel,exonic,MYL4,NA,nonsynonymous SNV,"MYL4:NM_002476:exon4:c.G443A:p.G148D,MYL4:NM_001002841:exon5:c.G443A:p.G148D",D,D,D,D,D,D
chr17,45745554,45745554,C,T,P270959_S,KPNB1,Silent,NM_001276453,exon9,c.C567T,p.D189D,SNP,SNVindel,exonic,KPNB1,NA,synonymous SNV,"KPNB1:NM_001276453:exon9:c.C567T:p.D189D,KPNB1:NM_002265:exon10:c.C1002T:p.D334D",NA,NA,NA,NA,NA,NA
chr17,47590239,47590239,C,T,P270959_S,NGFR,Silent,NM_002507,exon6,c.C1152T,p.R384R,SNP,SNVindel,exonic,NGFR,NA,synonymous SNV,NGFR:NM_002507:exon6:c.C1152T:p.R384R,NA,NA,NA,NA,NA,NA
chr17,48216821,48216821,G,A,P270959_S,PPP1R9B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PPP1R9B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,57288907,57288907,C,T,P270959_S,SMG8,Nonsense_Mutation,NM_018149,exon1,c.C1495T,p.R499X,SNP,SNVindel,exonic,SMG8,NA,stopgain,SMG8:NM_018149:exon1:c.C1495T:p.R499X,.,D,A,.,.,.
chr17,57743920,57743920,G,A,P270959_S,CLTC,Missense_Mutation,NM_001288653,exon12,c.G1874A,p.G625D,SNP,SNVindel,exonic,CLTC,NA,nonsynonymous SNV,"CLTC:NM_001288653:exon12:c.G1874A:p.G625D,CLTC:NM_004859:exon12:c.G1862A:p.G621D",D,D,D,T,D,T
chr17,59482668,59482668,G,A,P270959_S,TBX2,Missense_Mutation,NM_005994,exon6,c.G1157A,p.S386N,SNP,SNVindel,exonic,TBX2,NA,nonsynonymous SNV,TBX2:NM_005994:exon6:c.G1157A:p.S386N,D,N,D,D,N,D
chr17,59560616,59560616,C,T,P270959_S,TBX4,Silent,NM_018488,exon8,c.C1377T,p.S459S,SNP,SNVindel,exonic,TBX4,NA,synonymous SNV,"TBX4:NM_018488:exon8:c.C1377T:p.S459S,TBX4:NM_001321120:exon9:c.C1380T:p.S460S",NA,NA,NA,NA,NA,NA
chr17,60744178,60744178,G,A,P270959_S,MRC2,Missense_Mutation,NM_006039,exon5,c.G920A,p.G307E,SNP,SNVindel,exonic,MRC2,NA,nonsynonymous SNV,MRC2:NM_006039:exon5:c.G920A:p.G307E,D,D,D,T,N,T
chr17,61623128,61623128,T,C,P270959_S,KCNH6,Silent,NM_001278919,exon13,c.T2742C,p.H914H,SNP,SNVindel,exonic,KCNH6,NA,synonymous SNV,"KCNH6:NM_001278919:exon13:c.T2742C:p.H914H,KCNH6:NM_001278920:exon13:c.T2373C:p.H791H,KCNH6:NM_030779:exon14:c.T2850C:p.H950H,KCNH6:NM_173092:exon14:c.T2583C:p.H861H",NA,NA,NA,NA,NA,NA
chr17,61912089,61912089,G,A,P270959_S,SMARCD2,Silent,NM_001098426,exon6,c.C795T,p.Y265Y,SNP,SNVindel,exonic,SMARCD2,NA,synonymous SNV,"SMARCD2:NM_001098426:exon6:c.C795T:p.Y265Y,SMARCD2:NM_001330439:exon6:c.C570T:p.Y190Y,SMARCD2:NM_001330440:exon6:c.C651T:p.Y217Y",NA,NA,NA,NA,NA,NA
chr17,61995206,61995206,C,T,P270959_S,GH1,Missense_Mutation,NM_022560,exon3,c.G250A,p.A84T,SNP,SNVindel,exonic,GH1,NA,nonsynonymous SNV,"GH1:NM_022560:exon3:c.G250A:p.A84T,GH1:NM_000515:exon4:c.G370A:p.A124T,GH1:NM_022559:exon4:c.G325A:p.A109T",T,N,D,D,N,T
chr17,62018349,62018349,C,T,P270959_S,SCN4A,Missense_Mutation,NM_000334,exon24,c.G5293A,p.A1765T,SNP,SNVindel,exonic,SCN4A,NA,nonsynonymous SNV,SCN4A:NM_000334:exon24:c.G5293A:p.A1765T,T,N,D,D,N,D
chr17,63534451,63534451,C,T,P270959_S,AXIN2,Missense_Mutation,NM_001363813,exon5,c.G1070A,p.R357H,SNP,SNVindel,exonic,AXIN2,NA,nonsynonymous SNV,"AXIN2:NM_001363813:exon5:c.G1070A:p.R357H,AXIN2:NM_004655:exon5:c.G1070A:p.R357H",T,D,D,D,D,D
chr17,66416407,66416407,G,A,P270959_S,ARSG,Missense_Mutation,NM_001267727,exon12,c.G1381A,p.D461N,SNP,SNVindel,exonic,ARSG,NA,nonsynonymous SNV,"ARSG:NM_001267727:exon12:c.G1381A:p.D461N,ARSG:NM_001352899:exon12:c.G1381A:p.D461N,ARSG:NM_001352900:exon12:c.G1381A:p.D461N,ARSG:NM_001352901:exon12:c.G1381A:p.D461N,ARSG:NM_001352902:exon12:c.G1381A:p.D461N,ARSG:NM_001352903:exon12:c.G1378A:p.D460N,ARSG:NM_001352904:exon12:c.G1378A:p.D460N,ARSG:NM_001352905:exon12:c.G1378A:p.D460N,ARSG:NM_001352906:exon12:c.G1378A:p.D460N,ARSG:NM_001352907:exon12:c.G1378A:p.D460N,ARSG:NM_014960:exon12:c.G1381A:p.D461N",.,D,D,D,.,D
chr17,71383975,71383975,C,A,P270959_S,SDK2,Missense_Mutation,NM_001144952,exon30,c.G4394T,p.R1465M,SNP,SNVindel,exonic,SDK2,NA,nonsynonymous SNV,SDK2:NM_001144952:exon30:c.G4394T:p.R1465M,D,D,D,T,D,T
chr17,71412023,71412023,G,A,P270959_S,SDK2,Silent,NM_001144952,exon17,c.C2295T,p.I765I,SNP,SNVindel,exonic,SDK2,NA,synonymous SNV,SDK2:NM_001144952:exon17:c.C2295T:p.I765I,NA,NA,NA,NA,NA,NA
chr17,71452145,71452145,C,T,P270959_S,SDK2,Missense_Mutation,NM_001144952,exon4,c.G379A,p.G127R,SNP,SNVindel,exonic,SDK2,NA,nonsynonymous SNV,SDK2:NM_001144952:exon4:c.G379A:p.G127R,D,U,D,T,D,D
chr17,73234461,73234461,G,A,P270959_S,GGA3,Missense_Mutation,NM_001291642,exon14,c.C1705T,p.R569W,SNP,SNVindel,exonic,GGA3,NA,nonsynonymous SNV,"GGA3:NM_001291642:exon14:c.C1705T:p.R569W,GGA3:NM_014001:exon16:c.C1972T:p.R658W,GGA3:NM_001172703:exon17:c.C1855T:p.R619W,GGA3:NM_138619:exon17:c.C2071T:p.R691W,GGA3:NM_001291641:exon18:c.C1855T:p.R619W",.,D,D,T,.,T
chr17,73493220,73493220,G,A,P270959_S,TMEM94,Silent,NM_001321148,exon25,c.G3378A,p.P1126P,SNP,SNVindel,exonic,TMEM94,NA,synonymous SNV,"TMEM94:NM_001321148:exon25:c.G3378A:p.P1126P,TMEM94:NM_001351203:exon25:c.G3375A:p.P1125P,TMEM94:NM_001321149:exon26:c.G3360A:p.P1120P,TMEM94:NM_001351202:exon26:c.G3300A:p.P1100P,TMEM94:NM_014738:exon26:c.G3348A:p.P1116P",NA,NA,NA,NA,NA,NA
chr17,73609250,73609250,G,A,P270959_S,MYO15B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MYO15B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,74274101,74274101,C,T,P270959_S,QRICH2,Missense_Mutation,NM_032134,exon15,c.G4588A,p.A1530T,SNP,SNVindel,exonic,QRICH2,NA,nonsynonymous SNV,QRICH2:NM_032134:exon15:c.G4588A:p.A1530T,T,.,N,T,N,T
chr17,74289331,74289331,G,A,P270959_S,QRICH2,Missense_Mutation,NM_032134,exon4,c.C979T,p.R327C,SNP,SNVindel,exonic,QRICH2,NA,nonsynonymous SNV,QRICH2:NM_032134:exon4:c.C979T:p.R327C,T,.,N,T,N,T
chr17,76446421,76446421,C,T,P270959_S,DNAH17,Missense_Mutation,NM_173628,exon68,c.G10955A,p.R3652H,SNP,SNVindel,exonic,DNAH17,NA,nonsynonymous SNV,DNAH17:NM_173628:exon68:c.G10955A:p.R3652H,.,D,D,T,.,D
chr17,76989812,76989812,G,A,P270959_S,CANT1,Silent,NM_138793,exon4,c.C1026T,p.H342H,SNP,SNVindel,exonic,CANT1,NA,synonymous SNV,"CANT1:NM_138793:exon4:c.C1026T:p.H342H,CANT1:NM_001159773:exon5:c.C1026T:p.H342H,CANT1:NM_001159772:exon6:c.C1026T:p.H342H",NA,NA,NA,NA,NA,NA
chr17,77111578,77111578,G,A,P270959_S,RBFOX3,Missense_Mutation,NM_001350453,exon3,c.C220T,p.P74S,SNP,SNVindel,exonic,RBFOX3,NA,nonsynonymous SNV,"RBFOX3:NM_001350453:exon3:c.C220T:p.P74S,RBFOX3:NM_001350451:exon4:c.C220T:p.P74S,RBFOX3:NM_001082575:exon5:c.C220T:p.P74S",.,D,D,T,.,T
chr17,79496140,79496140,C,T,P270959_S,FSCN2,Missense_Mutation,NM_001077182,exon1,c.C583T,p.R195C,SNP,SNVindel,exonic,FSCN2,NA,nonsynonymous SNV,"FSCN2:NM_001077182:exon1:c.C583T:p.R195C,FSCN2:NM_012418:exon1:c.C583T:p.R195C",D,N,D,T,D,T
chr17,79496291,79496291,G,A,P270959_S,FSCN2,Missense_Mutation,NM_001077182,exon1,c.G734A,p.R245Q,SNP,SNVindel,exonic,FSCN2,NA,nonsynonymous SNV,"FSCN2:NM_001077182:exon1:c.G734A:p.R245Q,FSCN2:NM_012418:exon1:c.G734A:p.R245Q",T,D,N,T,N,T
chr17,79954416,79954416,C,T,P270959_S,ASPSCR1,Silent,NM_001330528,exon6,c.C396T,p.R132R,SNP,SNVindel,exonic,ASPSCR1,NA,synonymous SNV,"ASPSCR1:NM_001330528:exon6:c.C396T:p.R132R,ASPSCR1:NM_001251888:exon7:c.C627T:p.R209R,ASPSCR1:NM_024083:exon7:c.C627T:p.R209R",NA,NA,NA,NA,NA,NA
chr17,80043552,80043552,C,T,P270959_S,FASN,Missense_Mutation,NM_004104,exon23,c.G3928A,p.A1310T,SNP,SNVindel,exonic,FASN,NA,nonsynonymous SNV,FASN:NM_004104:exon23:c.G3928A:p.A1310T,T,N,N,T,N,T
chr18,48173,48173,G,A,P270959_S,TUBB8B,Silent,NM_001358689,exon4,c.C552T,p.N184N,SNP,SNVindel,exonic,TUBB8B,NA,synonymous SNV,TUBB8B:NM_001358689:exon4:c.C552T:p.N184N,NA,NA,NA,NA,NA,NA
chr18,627320,627320,A,G,P270959_S,CLUL1,Missense_Mutation,NM_001318522,exon5,c.A647G,p.H216R,SNP,SNVindel,exonic,CLUL1,NA,nonsynonymous SNV,"CLUL1:NM_001318522:exon5:c.A647G:p.H216R,CLUL1:NM_014410:exon5:c.A647G:p.H216R,CLUL1:NM_199167:exon5:c.A647G:p.H216R,CLUL1:NM_001289036:exon7:c.A803G:p.H268R",T,N,N,T,N,T
chr18,6958589,6958589,C,T,P270959_S,LAMA1,Silent,NM_005559,exon55,c.G7851A,p.T2617T,SNP,SNVindel,exonic,LAMA1,NA,synonymous SNV,LAMA1:NM_005559:exon55:c.G7851A:p.T2617T,NA,NA,NA,NA,NA,NA
chr18,6985318,6985318,A,G,P270959_S,LAMA1,Missense_Mutation,NM_005559,exon39,c.T5578C,p.S1860P,SNP,SNVindel,exonic,LAMA1,NA,nonsynonymous SNV,LAMA1:NM_005559:exon39:c.T5578C:p.S1860P,T,N,D,T,D,T
chr18,8718523,8718523,C,T,P270959_S,MTCL1,Silent,NM_015210,exon3,c.C75T,p.R25R,SNP,SNVindel,exonic,MTCL1,NA,synonymous SNV,MTCL1:NM_015210:exon3:c.C75T:p.R25R,NA,NA,NA,NA,NA,NA
chr18,13826089,13826089,G,A,P270959_S,MC5R,Missense_Mutation,NM_005913,exon2,c.G325A,p.A109T,SNP,SNVindel,exonic,MC5R,NA,nonsynonymous SNV,MC5R:NM_005913:exon2:c.G325A:p.A109T,T,N,N,T,N,T
chr18,21426412,21426412,G,A,P270959_S,LAMA3,Missense_Mutation,NM_001127717,exon31,c.G3871A,p.V1291I,SNP,SNVindel,exonic,LAMA3,NA,nonsynonymous SNV,"LAMA3:NM_001127717:exon31:c.G3871A:p.V1291I,LAMA3:NM_198129:exon31:c.G3871A:p.V1291I",T,.,D,T,N,T
chr18,23598329,23598329,A,G,P270959_S,SS18,Missense_Mutation,NM_005637,exon10,c.T1153C,p.Y385H,SNP,SNVindel,exonic,SS18,NA,nonsynonymous SNV,"SS18:NM_005637:exon10:c.T1153C:p.Y385H,SS18:NM_001007559:exon11:c.T1246C:p.Y416H,SS18:NM_001308201:exon11:c.T1177C:p.Y393H",D,D,D,T,N,T
chr18,29118774,29118774,T,C,P270959_S,DSG2,Missense_Mutation,NM_001943,exon12,c.T1712C,p.L571P,SNP,SNVindel,exonic,DSG2,NA,nonsynonymous SNV,DSG2:NM_001943:exon12:c.T1712C:p.L571P,D,N,D,T,D,T
chr18,33780014,33780014,G,A,P270959_S,MOCOS,Missense_Mutation,NM_017947,exon4,c.G668A,p.R223Q,SNP,SNVindel,exonic,MOCOS,NA,nonsynonymous SNV,MOCOS:NM_017947:exon4:c.G668A:p.R223Q,T,N,N,T,N,T
chr18,34850845,34850845,C,T,P270959_S,CELF4,Missense_Mutation,NM_001025087,exon8,c.G982A,p.V328M,SNP,SNVindel,exonic,CELF4,NA,nonsynonymous SNV,"CELF4:NM_001025087:exon8:c.G982A:p.V328M,CELF4:NM_001025088:exon8:c.G979A:p.V327M,CELF4:NM_001025089:exon8:c.G955A:p.V319M,CELF4:NM_001330603:exon8:c.G982A:p.V328M,CELF4:NM_001353695:exon8:c.G952A:p.V318M,CELF4:NM_001353696:exon8:c.G982A:p.V328M,CELF4:NM_001353697:exon8:c.G952A:p.V318M,CELF4:NM_001353698:exon8:c.G982A:p.V328M,CELF4:NM_001353699:exon8:c.G952A:p.V318M,CELF4:NM_001353700:exon8:c.G955A:p.V319M,CELF4:NM_001353702:exon8:c.G979A:p.V327M,CELF4:NM_001353703:exon8:c.G955A:p.V319M,CELF4:NM_001353705:exon8:c.G949A:p.V317M,CELF4:NM_001353706:exon8:c.G949A:p.V317M,CELF4:NM_001353707:exon8:c.G952A:p.V318M,CELF4:NM_001353708:exon8:c.G985A:p.V329M,CELF4:NM_001353709:exon8:c.G952A:p.V318M,CELF4:NM_001353710:exon8:c.G955A:p.V319M,CELF4:NM_001353711:exon8:c.G949A:p.V317M,CELF4:NM_001353712:exon8:c.G979A:p.V327M,CELF4:NM_001353713:exon8:c.G952A:p.V318M,CELF4:NM_001353714:exon8:c.G952A:p.V318M,CELF4:NM_001353715:exon8:c.G955A:p.V319M,CELF4:NM_001353716:exon8:c.G979A:p.V327M,CELF4:NM_001353717:exon8:c.G955A:p.V319M,CELF4:NM_001353718:exon8:c.G982A:p.V328M,CELF4:NM_001353719:exon8:c.G955A:p.V319M,CELF4:NM_001353720:exon8:c.G955A:p.V319M,CELF4:NM_001353721:exon8:c.G952A:p.V318M,CELF4:NM_001353722:exon8:c.G949A:p.V317M,CELF4:NM_001353723:exon8:c.G982A:p.V328M,CELF4:NM_001353724:exon8:c.G985A:p.V329M,CELF4:NM_001353725:exon8:c.G949A:p.V317M,CELF4:NM_001353726:exon8:c.G952A:p.V318M,CELF4:NM_001353727:exon8:c.G952A:p.V318M,CELF4:NM_001353728:exon8:c.G952A:p.V318M,CELF4:NM_001353729:exon8:c.G982A:p.V328M,CELF4:NM_001353730:exon8:c.G982A:p.V328M,CELF4:NM_001353731:exon8:c.G985A:p.V329M,CELF4:NM_001353732:exon8:c.G952A:p.V318M,CELF4:NM_001353733:exon8:c.G949A:p.V317M,CELF4:NM_001353734:exon8:c.G985A:p.V329M,CELF4:NM_001353735:exon8:c.G952A:p.V318M,CELF4:NM_001353736:exon8:c.G985A:p.V329M,CELF4:NM_001353737:exon8:c.G982A:p.V328M,CELF4:NM_001353738:exon8:c.G982A:p.V328M,CELF4:NM_001353739:exon8:c.G949A:p.V317M,CELF4:NM_001353740:exon8:c.G985A:p.V329M,CELF4:NM_001353741:exon8:c.G952A:p.V318M,CELF4:NM_001353742:exon8:c.G982A:p.V328M,CELF4:NM_001353743:exon8:c.G985A:p.V329M,CELF4:NM_001353744:exon8:c.G985A:p.V329M,CELF4:NM_001353745:exon8:c.G982A:p.V328M,CELF4:NM_001353746:exon8:c.G982A:p.V328M,CELF4:NM_001353747:exon8:c.G982A:p.V328M,CELF4:NM_001353748:exon8:c.G955A:p.V319M,CELF4:NM_001353749:exon8:c.G982A:p.V328M,CELF4:NM_001353750:exon8:c.G952A:p.V318M,CELF4:NM_001353751:exon8:c.G985A:p.V329M,CELF4:NM_001353752:exon8:c.G952A:p.V318M,CELF4:NM_001353753:exon8:c.G952A:p.V318M,CELF4:NM_001353754:exon8:c.G979A:p.V327M,CELF4:NM_001353755:exon8:c.G949A:p.V317M,CELF4:NM_001353756:exon8:c.G613A:p.V205M,CELF4:NM_001353757:exon8:c.G586A:p.V196M,CELF4:NM_001353758:exon8:c.G583A:p.V195M,CELF4:NM_001353759:exon8:c.G583A:p.V195M,CELF4:NM_001353760:exon8:c.G586A:p.V196M,CELF4:NM_001353761:exon8:c.G613A:p.V205M,CELF4:NM_020180:exon8:c.G985A:p.V329M",T,D,D,T,N,T
chr18,43224075,43224075,G,A,P270959_S,SLC14A2,Missense_Mutation,NM_007163,exon10,c.G1301A,p.R434H,SNP,SNVindel,exonic,SLC14A2,NA,nonsynonymous SNV,"SLC14A2:NM_007163:exon10:c.G1301A:p.R434H,SLC14A2:NM_001242692:exon11:c.G1301A:p.R434H,SLC14A2:NM_001371319:exon14:c.G1301A:p.R434H",D,D,D,T,N,T
chr18,43481010,43481010,C,T,P270959_S,EPG5,Missense_Mutation,NM_020964,exon26,c.G4597A,p.A1533T,SNP,SNVindel,exonic,EPG5,NA,nonsynonymous SNV,EPG5:NM_020964:exon26:c.G4597A:p.A1533T,T,.,N,T,N,T
chr18,45567056,45567056,G,A,P270959_S,ZBTB7C,Silent,NM_001039360,exon2,c.C423T,p.D141D,SNP,SNVindel,exonic,ZBTB7C,NA,synonymous SNV,"ZBTB7C:NM_001039360:exon2:c.C423T:p.D141D,ZBTB7C:NM_001318841:exon4:c.C423T:p.D141D,ZBTB7C:NM_001371286:exon4:c.C423T:p.D141D,ZBTB7C:NM_001371288:exon4:c.C423T:p.D141D,ZBTB7C:NM_001371285:exon5:c.C423T:p.D141D,ZBTB7C:NM_001371287:exon5:c.C423T:p.D141D,ZBTB7C:NM_001371284:exon6:c.C423T:p.D141D,ZBTB7C:NM_001371291:exon6:c.C423T:p.D141D,ZBTB7C:NM_001371290:exon9:c.C423T:p.D141D",NA,NA,NA,NA,NA,NA
chr18,46284568,46284568,A,G,P270959_S,CTIF,Missense_Mutation,NM_014772,exon8,c.A863G,p.D288G,SNP,SNVindel,exonic,CTIF,NA,nonsynonymous SNV,"CTIF:NM_014772:exon8:c.A863G:p.D288G,CTIF:NM_001142397:exon9:c.A863G:p.D288G",T,N,N,T,N,T
chr18,50683829,50683829,G,A,P270959_S,DCC,Silent,NM_005215,exon8,c.G1365A,p.A455A,SNP,SNVindel,exonic,DCC,NA,synonymous SNV,DCC:NM_005215:exon8:c.G1365A:p.A455A,NA,NA,NA,NA,NA,NA
chr18,55315803,55315803,G,A,P270959_S,ATP8B1,Missense_Mutation,NM_005603,exon28,c.C3673T,p.R1225C,SNP,SNVindel,exonic,ATP8B1,NA,nonsynonymous SNV,ATP8B1:NM_005603:exon28:c.C3673T:p.R1225C,D,D,D,T,D,T
chr18,57136796,57136796,C,T,P270959_S,CCBE1,Silent,NM_133459,exon4,c.G309A,p.T103T,SNP,SNVindel,exonic,CCBE1,NA,synonymous SNV,CCBE1:NM_133459:exon4:c.G309A:p.T103T,NA,NA,NA,NA,NA,NA
chr18,58039343,58039343,G,A,P270959_S,MC4R,Silent,NM_005912,exon1,c.C240T,p.Y80Y,SNP,SNVindel,exonic,MC4R,NA,synonymous SNV,MC4R:NM_005912:exon1:c.C240T:p.Y80Y,NA,NA,NA,NA,NA,NA
chr18,60036045,60036045,A,G,P270959_S,TNFRSF11A,Missense_Mutation,NM_001278268,exon9,c.A853G,p.M285V,SNP,SNVindel,exonic,TNFRSF11A,NA,nonsynonymous SNV,"TNFRSF11A:NM_001278268:exon9:c.A853G:p.M285V,TNFRSF11A:NM_003839:exon9:c.A895G:p.M299V",.,N,N,T,.,T
chr18,72343478,72343478,T,C,P270959_S,ZNF407,Missense_Mutation,NM_001146189,exon1,c.T503C,p.F168S,SNP,SNVindel,exonic,ZNF407,NA,nonsynonymous SNV,"ZNF407:NM_001146189:exon1:c.T503C:p.F168S,ZNF407:NM_001146190:exon1:c.T503C:p.F168S,ZNF407:NM_017757:exon1:c.T503C:p.F168S",T,U,N,T,N,T
chr18,72776226,72776226,G,A,P270959_S,ZNF407,Silent,NM_017757,exon8,c.G6549A,p.P2183P,SNP,SNVindel,exonic,ZNF407,NA,synonymous SNV,ZNF407:NM_017757:exon8:c.G6549A:p.P2183P,NA,NA,NA,NA,NA,NA
chr18,74627675,74627675,C,T,P270959_S,ZNF236,Missense_Mutation,NM_001306089,exon19,c.C3134T,p.A1045V,SNP,SNVindel,exonic,ZNF236,NA,nonsynonymous SNV,"ZNF236:NM_001306089:exon19:c.C3134T:p.A1045V,ZNF236:NM_007345:exon19:c.C3128T:p.A1043V",T,D,D,T,N,T
chr18,76754515,76754515,G,A,P270959_S,SALL3,Missense_Mutation,NM_171999,exon2,c.G2524A,p.A842T,SNP,SNVindel,exonic,SALL3,NA,nonsynonymous SNV,SALL3:NM_171999:exon2:c.G2524A:p.A842T,D,D,D,T,D,T
chr19,1054604,1054604,C,T,P270959_S,ABCA7,Silent,NM_019112,exon28,c.C3762T,p.L1254L,SNP,SNVindel,exonic,ABCA7,NA,synonymous SNV,ABCA7:NM_019112:exon28:c.C3762T:p.L1254L,NA,NA,NA,NA,NA,NA
chr19,1440080,1440080,G,A,P270959_S,RPS15,Missense_Mutation,NM_001018,exon3,c.G152A,p.R51Q,SNP,SNVindel,exonic,RPS15,NA,nonsynonymous SNV,"RPS15:NM_001018:exon3:c.G152A:p.R51Q,RPS15:NM_001308226:exon3:c.G173A:p.R58Q",.,U,D,.,.,T
chr19,1469916,1469916,T,C,P270959_S,APC2,Missense_Mutation,NM_001351273,exon14,c.T6613C,p.S2205P,SNP,SNVindel,exonic,APC2,NA,nonsynonymous SNV,"APC2:NM_001351273:exon14:c.T6613C:p.S2205P,APC2:NM_005883:exon15:c.T6616C:p.S2206P",D,U,D,D,N,D
chr19,2290885,2290885,G,A,P270959_S,LINGO3,Silent,NM_001101391,exon2,c.C891T,p.R297R,SNP,SNVindel,exonic,LINGO3,NA,synonymous SNV,LINGO3:NM_001101391:exon2:c.C891T:p.R297R,NA,NA,NA,NA,NA,NA
chr19,2339175,2339175,C,T,P270959_S,SPPL2B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SPPL2B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,2877710,2877710,A,G,P270959_S,ZNF556,Missense_Mutation,NM_001300843,exon4,c.A751G,p.M251V,SNP,SNVindel,exonic,ZNF556,NA,nonsynonymous SNV,"ZNF556:NM_001300843:exon4:c.A751G:p.M251V,ZNF556:NM_024967:exon4:c.A754G:p.M252V",T,.,N,T,N,T
chr19,3113378,3113378,C,T,P270959_S,GNA11,Silent,NM_002067,exon3,c.C372T,p.F124F,SNP,SNVindel,exonic,GNA11,NA,synonymous SNV,GNA11:NM_002067:exon3:c.C372T:p.F124F,NA,NA,NA,NA,NA,NA
chr19,3282177,3282177,C,T,P270959_S,CELF5,Silent,NM_001172673,exon7,c.C804T,p.P268P,SNP,SNVindel,exonic,CELF5,NA,synonymous SNV,"CELF5:NM_001172673:exon7:c.C804T:p.P268P,CELF5:NM_021938:exon7:c.C804T:p.P268P",NA,NA,NA,NA,NA,NA
chr19,3784172,3784172,C,T,P270959_S,MATK,Silent,NM_139354,exon4,c.G189A,p.A63A,SNP,SNVindel,exonic,MATK,NA,synonymous SNV,"MATK:NM_139354:exon4:c.G189A:p.A63A,MATK:NM_002378:exon5:c.G315A:p.A105A,MATK:NM_139355:exon5:c.G312A:p.A104A",NA,NA,NA,NA,NA,NA
chr19,3784366,3784366,G,A,P270959_S,MATK,Silent,NM_139354,exon3,c.C93T,p.G31G,SNP,SNVindel,exonic,MATK,NA,synonymous SNV,"MATK:NM_139354:exon3:c.C93T:p.G31G,MATK:NM_002378:exon4:c.C219T:p.G73G,MATK:NM_139355:exon4:c.C216T:p.G72G",NA,NA,NA,NA,NA,NA
chr19,4682839,4682839,C,T,P270959_S,DPP9,Silent,NM_139159,exon20,c.G2343A,p.A781A,SNP,SNVindel,exonic,DPP9,NA,synonymous SNV,DPP9:NM_139159:exon20:c.G2343A:p.A781A,NA,NA,NA,NA,NA,NA
chr19,4793031,4793031,A,G,P270959_S,FEM1A,Missense_Mutation,NM_018708,exon1,c.A1165G,p.T389A,SNP,SNVindel,exonic,FEM1A,NA,nonsynonymous SNV,FEM1A:NM_018708:exon1:c.A1165G:p.T389A,D,U,D,T,D,T
chr19,4944234,4944234,G,A,P270959_S,UHRF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,UHRF1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,5664422,5664422,G,A,P270959_S,SAFB,Missense_Mutation,NM_001320571,exon15,c.G1832A,p.R611K,SNP,SNVindel,exonic,SAFB,NA,nonsynonymous SNV,"SAFB:NM_001320571:exon15:c.G1832A:p.R611K,SAFB:NM_001201340:exon16:c.G2099A:p.R700K,SAFB:NM_001201338:exon17:c.G2306A:p.R769K,SAFB:NM_001201339:exon17:c.G2303A:p.R768K,SAFB:NM_001320572:exon17:c.G2303A:p.R768K,SAFB:NM_002967:exon17:c.G2306A:p.R769K",D,D,D,T,N,T
chr19,6468079,6468079,C,A,P270959_S,DENND1C,Missense_Mutation,NM_001290331,exon21,c.G1710T,p.E570D,SNP,SNVindel,exonic,DENND1C,NA,nonsynonymous SNV,"DENND1C:NM_001290331:exon21:c.G1710T:p.E570D,DENND1C:NM_024898:exon23:c.G1842T:p.E614D",T,N,N,T,N,T
chr19,6534980,6534980,G,A,P270959_S,TNFSF9,Missense_Mutation,NM_003811,exon3,c.G668A,p.R223H,SNP,SNVindel,exonic,TNFSF9,NA,nonsynonymous SNV,TNFSF9:NM_003811:exon3:c.G668A:p.R223H,T,N,N,D,N,T
chr19,7591451,7591451,C,T,P270959_S,MCOLN1,Missense_Mutation,NM_020533,exon3,c.C364T,p.R122W,SNP,SNVindel,exonic,MCOLN1,NA,nonsynonymous SNV,MCOLN1:NM_020533:exon3:c.C364T:p.R122W,D,N,D,T,D,T
chr19,7606468,7606468,C,T,P270959_S,PNPLA6,Missense_Mutation,NM_001166114,exon9,c.C1066T,p.R356W,SNP,SNVindel,exonic,PNPLA6,NA,nonsynonymous SNV,"PNPLA6:NM_001166114:exon9:c.C1066T:p.R356W,PNPLA6:NM_001166111:exon11:c.C1093T:p.R365W,PNPLA6:NM_001166112:exon12:c.C949T:p.R317W,PNPLA6:NM_001166113:exon12:c.C949T:p.R317W,PNPLA6:NM_006702:exon12:c.C949T:p.R317W",D,D,D,T,D,T
chr19,7916437,7916437,C,T,P270959_S,EVI5L,Missense_Mutation,NM_001159944,exon7,c.C871T,p.R291W,SNP,SNVindel,exonic,EVI5L,NA,nonsynonymous SNV,"EVI5L:NM_001159944:exon7:c.C871T:p.R291W,EVI5L:NM_145245:exon7:c.C871T:p.R291W",D,D,D,T,D,D
chr19,7965356,7965356,G,A,P270959_S,LRRC8E,Missense_Mutation,NM_001268285,exon2,c.G1562A,p.R521Q,SNP,SNVindel,exonic,LRRC8E,NA,nonsynonymous SNV,"LRRC8E:NM_001268285:exon2:c.G1562A:p.R521Q,LRRC8E:NM_025061:exon3:c.G1949A:p.R650Q,LRRC8E:NM_001268284:exon4:c.G1949A:p.R650Q",T,D,D,T,N,T
chr19,8467070,8467070,G,A,P270959_S,RAB11B,Missense_Mutation,NM_004218,exon3,c.G337A,p.A113T,SNP,SNVindel,exonic,RAB11B,NA,nonsynonymous SNV,RAB11B:NM_004218:exon3:c.G337A:p.A113T,T,D,D,T,D,T
chr19,8808484,8808484,G,A,P270959_S,ACTL9,Missense_Mutation,NM_178525,exon1,c.C568T,p.R190C,SNP,SNVindel,exonic,ACTL9,NA,nonsynonymous SNV,ACTL9:NM_178525:exon1:c.C568T:p.R190C,D,N,D,D,D,D
chr19,9271415,9271415,C,T,P270959_S,ZNF317,Missense_Mutation,NM_001190791,exon6,c.C998T,p.T333M,SNP,SNVindel,exonic,ZNF317,NA,nonsynonymous SNV,"ZNF317:NM_001190791:exon6:c.C998T:p.T333M,ZNF317:NM_020933:exon7:c.C1094T:p.T365M",D,N,N,T,N,T
chr19,9297084,9297084,T,C,P270959_S,OR7D2,Silent,NM_175883,exon1,c.T627C,p.F209F,SNP,SNVindel,exonic,OR7D2,NA,synonymous SNV,OR7D2:NM_175883:exon1:c.T627C:p.F209F,NA,NA,NA,NA,NA,NA
chr19,9525082,9525082,T,A,P270959_S,ZNF266,Silent,NM_001370390,exon8,c.A519T,p.G173G,SNP,SNVindel,exonic,ZNF266,NA,synonymous SNV,"ZNF266:NM_001370390:exon8:c.A519T:p.G173G,ZNF266:NM_001370379:exon9:c.A519T:p.G173G,ZNF266:NM_001370380:exon9:c.A519T:p.G173G,ZNF266:NM_001370385:exon9:c.A720T:p.G240G,ZNF266:NM_001370388:exon9:c.A519T:p.G173G,ZNF266:NM_001370396:exon9:c.A519T:p.G173G,ZNF266:NM_001370376:exon10:c.A519T:p.G173G,ZNF266:NM_001370381:exon10:c.A519T:p.G173G,ZNF266:NM_001370382:exon10:c.A519T:p.G173G,ZNF266:NM_001370384:exon10:c.A720T:p.G240G,ZNF266:NM_001370389:exon10:c.A519T:p.G173G,ZNF266:NM_001370391:exon10:c.A519T:p.G173G,ZNF266:NM_001370398:exon10:c.A519T:p.G173G,ZNF266:NM_001370399:exon10:c.A519T:p.G173G,ZNF266:NM_001271314:exon11:c.A519T:p.G173G,ZNF266:NM_001370374:exon11:c.A720T:p.G240G,ZNF266:NM_001370375:exon11:c.A720T:p.G240G,ZNF266:NM_001370383:exon11:c.A519T:p.G173G,ZNF266:NM_001370386:exon11:c.A519T:p.G173G,ZNF266:NM_001370387:exon11:c.A519T:p.G173G,ZNF266:NM_001370392:exon11:c.A519T:p.G173G,ZNF266:NM_001370393:exon11:c.A519T:p.G173G,ZNF266:NM_001370394:exon11:c.A519T:p.G173G,ZNF266:NM_001370395:exon11:c.A519T:p.G173G,ZNF266:NM_001370400:exon11:c.A519T:p.G173G,ZNF266:NM_006631:exon11:c.A519T:p.G173G,ZNF266:NM_001370377:exon12:c.A519T:p.G173G,ZNF266:NM_001370378:exon12:c.A519T:p.G173G,ZNF266:NM_001370397:exon12:c.A519T:p.G173G",NA,NA,NA,NA,NA,NA
chr19,10394918,10394918,G,A,P270959_S,ICAM1,Missense_Mutation,NM_000201,exon4,c.G847A,p.E283K,SNP,SNVindel,exonic,ICAM1,NA,nonsynonymous SNV,ICAM1:NM_000201:exon4:c.G847A:p.E283K,D,N,N,T,D,T
chr19,11096968,11096968,G,A,P270959_S,SMARCA4,Silent,NM_001128845,exon3,c.G459A,p.P153P,SNP,SNVindel,exonic,SMARCA4,NA,synonymous SNV,"SMARCA4:NM_001128845:exon3:c.G459A:p.P153P,SMARCA4:NM_001128846:exon3:c.G459A:p.P153P,SMARCA4:NM_001128848:exon3:c.G459A:p.P153P,SMARCA4:NM_001128847:exon4:c.G459A:p.P153P,SMARCA4:NM_001128849:exon4:c.G459A:p.P153P,SMARCA4:NM_003072:exon4:c.G459A:p.P153P,SMARCA4:NM_001128844:exon5:c.G459A:p.P153P",NA,NA,NA,NA,NA,NA
chr19,11537006,11537006,G,A,P270959_S,CCDC151,Silent,NM_001302454,exon5,c.C741T,p.R247R,SNP,SNVindel,exonic,CCDC151,NA,synonymous SNV,"CCDC151:NM_001302454:exon5:c.C741T:p.R247R,CCDC151:NM_001302453:exon7:c.C759T:p.R253R,CCDC151:NM_145045:exon7:c.C921T:p.R307R",NA,NA,NA,NA,NA,NA
chr19,12774251,12774251,C,T,P270959_S,MAN2B1,Silent,NM_000528,exon6,c.G789A,p.P263P,SNP,SNVindel,exonic,MAN2B1,NA,synonymous SNV,"MAN2B1:NM_000528:exon6:c.G789A:p.P263P,MAN2B1:NM_001173498:exon6:c.G789A:p.P263P",NA,NA,NA,NA,NA,NA
chr19,12788131,12788131,G,A,P270959_S,DHPS,Missense_Mutation,NM_001206974,exon6,c.C632T,p.P211L,SNP,SNVindel,exonic,DHPS,NA,nonsynonymous SNV,"DHPS:NM_001206974:exon6:c.C632T:p.P211L,DHPS:NM_001369691:exon6:c.C758T:p.P253L,DHPS:NM_001369692:exon6:c.C758T:p.P253L,DHPS:NM_001369693:exon6:c.C209T:p.P70L,DHPS:NM_001930:exon6:c.C758T:p.P253L,DHPS:NM_013406:exon6:c.C758T:p.P253L",D,N,D,T,D,T
chr19,13080695,13080695,T,C,P270959_S,DAND5,Missense_Mutation,NM_152654,exon1,c.T221C,p.M74T,SNP,SNVindel,exonic,DAND5,NA,nonsynonymous SNV,DAND5:NM_152654:exon1:c.T221C:p.M74T,T,N,N,T,N,T
chr19,13346463,13346463,G,A,P270959_S,CACNA1A,Missense_Mutation,NM_001127221,exon32,c.C5035T,p.R1679C,SNP,SNVindel,exonic,CACNA1A,NA,nonsynonymous SNV,"CACNA1A:NM_001127221:exon32:c.C5035T:p.R1679C,CACNA1A:NM_001127222:exon32:c.C5032T:p.R1678C",D,D,D,D,D,D
chr19,15224576,15224576,G,A,P270959_S,SYDE1,Silent,NM_001300910,exon8,c.G1809A,p.L603L,SNP,SNVindel,exonic,SYDE1,NA,synonymous SNV,"SYDE1:NM_001300910:exon8:c.G1809A:p.L603L,SYDE1:NM_033025:exon8:c.G2010A:p.L670L",NA,NA,NA,NA,NA,NA
chr19,15366352,15366352,C,T,P270959_S,BRD4,Silent,NM_001330384,exon10,c.G1803A,p.S601S,SNP,SNVindel,exonic,BRD4,NA,synonymous SNV,"BRD4:NM_001330384:exon10:c.G1803A:p.S601S,BRD4:NM_014299:exon10:c.G1803A:p.S601S,BRD4:NM_058243:exon10:c.G1803A:p.S601S",NA,NA,NA,NA,NA,NA
chr19,15484088,15484088,G,T,P270959_S,AKAP8,Silent,NM_005858,exon5,c.C435A,p.P145P,SNP,SNVindel,exonic,AKAP8,NA,synonymous SNV,AKAP8:NM_005858:exon5:c.C435A:p.P145P,NA,NA,NA,NA,NA,NA
chr19,15571026,15571026,T,C,P270959_S,RASAL3,Missense_Mutation,NM_001348027,exon6,c.A650G,p.E217G,SNP,SNVindel,exonic,RASAL3,NA,nonsynonymous SNV,"RASAL3:NM_001348027:exon6:c.A650G:p.E217G,RASAL3:NM_022904:exon6:c.A650G:p.E217G",D,U,N,T,N,T
chr19,15839267,15839267,A,G,P270959_S,OR10H2,Silent,NM_013939,exon1,c.A414G,p.P138P,SNP,SNVindel,exonic,OR10H2,NA,synonymous SNV,OR10H2:NM_013939:exon1:c.A414G:p.P138P,NA,NA,NA,NA,NA,NA
chr19,16504805,16504805,C,T,P270959_S,EPS15L1,Silent,NM_001258374,exon18,c.G1923A,p.P641P,SNP,SNVindel,exonic,EPS15L1,NA,synonymous SNV,"EPS15L1:NM_001258374:exon18:c.G1923A:p.P641P,EPS15L1:NM_001258375:exon18:c.G1923A:p.P641P,EPS15L1:NM_021235:exon18:c.G1923A:p.P641P",NA,NA,NA,NA,NA,NA
chr19,17442203,17442203,G,A,P270959_S,ANO8,Missense_Mutation,NM_020959,exon6,c.C604T,p.R202C,SNP,SNVindel,exonic,ANO8,NA,nonsynonymous SNV,ANO8:NM_020959:exon6:c.C604T:p.R202C,D,D,D,T,D,T
chr19,17740995,17740995,C,T,P270959_S,UNC13A,Missense_Mutation,NM_001080421,exon29,c.G3628A,p.D1210N,SNP,SNVindel,exonic,UNC13A,NA,nonsynonymous SNV,UNC13A:NM_001080421:exon29:c.G3628A:p.D1210N,T,U,D,T,D,T
chr19,17881328,17881328,G,A,P270959_S,FCHO1,Missense_Mutation,NM_001161359,exon6,c.G281A,p.R94H,SNP,SNVindel,exonic,FCHO1,NA,nonsynonymous SNV,"FCHO1:NM_001161359:exon6:c.G281A:p.R94H,FCHO1:NM_001161358:exon7:c.G431A:p.R144H,FCHO1:NM_001161357:exon8:c.G431A:p.R144H,FCHO1:NM_015122:exon8:c.G431A:p.R144H",D,N,D,T,D,T
chr19,18377337,18377337,G,A,P270959_S,IQCN,Missense_Mutation,NM_001145304,exon3,c.C1013T,p.T338I,SNP,SNVindel,exonic,IQCN,NA,nonsynonymous SNV,"IQCN:NM_001145304:exon3:c.C1013T:p.T338I,IQCN:NM_001145305:exon3:c.C875T:p.T292I,IQCN:NM_025249:exon3:c.C1013T:p.T338I",D,N,N,T,N,T
chr19,18572479,18572479,C,T,P270959_S,ELL,Missense_Mutation,NM_006532,exon5,c.G653A,p.R218Q,SNP,SNVindel,exonic,ELL,NA,nonsynonymous SNV,ELL:NM_006532:exon5:c.G653A:p.R218Q,D,D,D,T,N,T
chr19,18685779,18685779,G,A,P270959_S,UBA52,Missense_Mutation,NM_001321022,exon3,c.G203A,p.R68H,SNP,SNVindel,exonic,UBA52,NA,nonsynonymous SNV,"UBA52:NM_001321022:exon3:c.G203A:p.R68H,UBA52:NM_001033930:exon4:c.G290A:p.R97H,UBA52:NM_001321017:exon4:c.G290A:p.R97H,UBA52:NM_001321018:exon4:c.G290A:p.R97H,UBA52:NM_001321019:exon4:c.G290A:p.R97H,UBA52:NM_001321020:exon4:c.G290A:p.R97H,UBA52:NM_001321021:exon4:c.G311A:p.R104H,UBA52:NM_003333:exon4:c.G290A:p.R97H",D,D,D,T,D,D
chr19,19033245,19033245,C,T,P270959_S,DDX49,Silent,NM_019070,exon5,c.C558T,p.S186S,SNP,SNVindel,exonic,DDX49,NA,synonymous SNV,DDX49:NM_019070:exon5:c.C558T:p.S186S,NA,NA,NA,NA,NA,NA
chr19,19106039,19106039,C,A,P270959_S,SUGP2,Silent,NM_001017392,exon9,c.G3042T,p.L1014L,SNP,SNVindel,exonic,SUGP2,NA,synonymous SNV,"SUGP2:NM_001017392:exon9:c.G3042T:p.L1014L,SUGP2:NM_001321697:exon9:c.G3042T:p.L1014L,SUGP2:NM_001321698:exon9:c.G3084T:p.L1028L,SUGP2:NM_001321699:exon9:c.G3084T:p.L1028L,SUGP2:NM_001352071:exon9:c.G3042T:p.L1014L,SUGP2:NM_014884:exon9:c.G3042T:p.L1014L",NA,NA,NA,NA,NA,NA
chr19,19451657,19451657,C,T,P270959_S,MAU2,Missense_Mutation,NM_015329,exon6,c.C554T,p.A185V,SNP,SNVindel,exonic,MAU2,NA,nonsynonymous SNV,MAU2:NM_015329:exon6:c.C554T:p.A185V,T,D,D,.,N,T
chr19,19767902,19767902,C,T,P270959_S,ATP13A1,Silent,NM_020410,exon5,c.G807A,p.T269T,SNP,SNVindel,exonic,ATP13A1,NA,synonymous SNV,ATP13A1:NM_020410:exon5:c.G807A:p.T269T,NA,NA,NA,NA,NA,NA
chr19,33355081,33355081,G,A,P270959_S,SLC7A9,Silent,NM_001126335,exon4,c.C399T,p.S133S,SNP,SNVindel,exonic,SLC7A9,NA,synonymous SNV,"SLC7A9:NM_001126335:exon4:c.C399T:p.S133S,SLC7A9:NM_001243036:exon4:c.C399T:p.S133S,SLC7A9:NM_014270:exon4:c.C399T:p.S133S",NA,NA,NA,NA,NA,NA
chr19,33464178,33464178,C,T,P270959_S,FAAP24,Missense_Mutation,NM_152266,exon2,c.C76T,p.R26C,SNP,SNVindel,exonic,FAAP24,NA,nonsynonymous SNV,FAAP24:NM_152266:exon2:c.C76T:p.R26C,.,D,D,T,.,T
chr19,34869857,34869857,A,C,P270959_S,GPI,Missense_Mutation,NM_001289790,exon6,c.A568C,p.T190P,SNP,SNVindel,exonic,GPI,NA,nonsynonymous SNV,"GPI:NM_001289790:exon6:c.A568C:p.T190P,GPI:NM_000175:exon7:c.A652C:p.T218P,GPI:NM_001184722:exon7:c.A685C:p.T229P,GPI:NM_001329911:exon7:c.A652C:p.T218P,GPI:NM_001289789:exon8:c.A769C:p.T257P,GPI:NM_001329909:exon8:c.A652C:p.T218P,GPI:NM_001329910:exon8:c.A652C:p.T218P",D,D,D,D,D,D
chr19,36110636,36110636,C,T,P270959_S,HAUS5,Missense_Mutation,NM_015302,exon15,c.C1382T,p.T461M,SNP,SNVindel,exonic,HAUS5,NA,nonsynonymous SNV,HAUS5:NM_015302:exon15:c.C1382T:p.T461M,D,N,D,T,N,T
chr19,37239868,37239868,G,A,P270959_S,ZNF850,Missense_Mutation,NM_001267779,exon4,c.C1978T,p.R660W,SNP,SNVindel,exonic,ZNF850,NA,nonsynonymous SNV,"ZNF850:NM_001267779:exon4:c.C1978T:p.R660W,ZNF850:NM_001193552:exon5:c.C2074T:p.R692W",.,.,D,T,.,.
chr19,38696782,38696782,C,T,P270959_S,SIPA1L3,Missense_Mutation,NM_015073,exon22,c.C5248T,p.R1750W,SNP,SNVindel,exonic,SIPA1L3,NA,nonsynonymous SNV,SIPA1L3:NM_015073:exon22:c.C5248T:p.R1750W,T,D,D,D,D,T
chr19,39008205,39008205,G,A,P270959_S,RYR1,Missense_Mutation,NM_000540,exon66,c.G9892A,p.A3298T,SNP,SNVindel,exonic,RYR1,NA,nonsynonymous SNV,"RYR1:NM_000540:exon66:c.G9892A:p.A3298T,RYR1:NM_001042723:exon66:c.G9892A:p.A3298T",T,U,N,D,N,D
chr19,39123280,39123280,A,G,P270959_S,EIF3K,Missense_Mutation,NM_001308393,exon6,c.A200G,p.D67G,SNP,SNVindel,exonic,EIF3K,NA,nonsynonymous SNV,"EIF3K:NM_001308393:exon6:c.A200G:p.D67G,EIF3K:NM_013234:exon6:c.A461G:p.D154G",T,D,D,.,D,T
chr19,39221821,39221821,C,T,P270959_S,CAPN12,Missense_Mutation,NM_144691,exon19,c.G2000A,p.R667H,SNP,SNVindel,exonic,CAPN12,NA,nonsynonymous SNV,CAPN12:NM_144691:exon19:c.G2000A:p.R667H,D,D,D,T,D,T
chr19,39735556,39735556,C,T,P270959_S,IFNL3,Missense_Mutation,NM_172139,exon1,c.G52A,p.V18M,SNP,SNVindel,exonic,IFNL3,NA,nonsynonymous SNV,"IFNL3:NM_172139:exon1:c.G52A:p.V18M,IFNL3:NM_001346937:exon2:c.G64A:p.V22M",T,N,N,T,N,T
chr19,39907551,39907551,C,T,P270959_S,PLEKHG2,Missense_Mutation,NM_001351693,exon7,c.C478T,p.R160C,SNP,SNVindel,exonic,PLEKHG2,NA,nonsynonymous SNV,"PLEKHG2:NM_001351693:exon7:c.C478T:p.R160C,PLEKHG2:NM_001351694:exon7:c.C655T:p.R219C,PLEKHG2:NM_022835:exon7:c.C655T:p.R219C",T,D,D,T,D,T
chr19,39976420,39976420,C,T,P270959_S,TIMM50,Silent,NM_001329559,exon5,c.C126T,p.T42T,SNP,SNVindel,exonic,TIMM50,NA,synonymous SNV,"TIMM50:NM_001329559:exon5:c.C126T:p.T42T,TIMM50:NM_001001563:exon6:c.C465T:p.T155T",NA,NA,NA,NA,NA,NA
chr19,39998085,39998085,C,T,P270959_S,DLL3,Silent,NM_016941,exon7,c.C1500T,p.L500L,SNP,SNVindel,exonic,DLL3,NA,synonymous SNV,"DLL3:NM_016941:exon7:c.C1500T:p.L500L,DLL3:NM_203486:exon7:c.C1500T:p.L500L",NA,NA,NA,NA,NA,NA
chr19,40368736,40368736,C,T,P270959_S,FCGBP,Silent,NM_003890,exon28,c.G12612A,p.T4204T,SNP,SNVindel,exonic,FCGBP,NA,synonymous SNV,FCGBP:NM_003890:exon28:c.G12612A:p.T4204T,NA,NA,NA,NA,NA,NA
chr19,40895470,40895470,G,A,P270959_S,HIPK4,Missense_Mutation,NM_144685,exon1,c.C340T,p.R114C,SNP,SNVindel,exonic,HIPK4,NA,nonsynonymous SNV,HIPK4:NM_144685:exon1:c.C340T:p.R114C,D,D,D,T,D,T
chr19,41040036,41040036,G,A,P270959_S,SPTBN4,Missense_Mutation,NM_025213,exon3,c.G173A,p.R58Q,SNP,SNVindel,exonic,SPTBN4,NA,nonsynonymous SNV,"SPTBN4:NM_025213:exon3:c.G173A:p.R58Q,SPTBN4:NM_020971:exon20:c.G4145A:p.R1382Q",T,D,N,T,N,T
chr19,41135350,41135350,C,T,P270959_S,LTBP4,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LTBP4,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,41704744,41704744,C,T,P270959_S,CYP2S1,Missense_Mutation,NM_030622,exon5,c.C785T,p.S262L,SNP,SNVindel,exonic,CYP2S1,NA,nonsynonymous SNV,CYP2S1:NM_030622:exon5:c.C785T:p.S262L,D,U,N,T,D,T
chr19,42090755,42090755,G,T,P270959_S,CEACAM21,Silent,NM_001098506,exon4,c.G756T,p.V252V,SNP,SNVindel,exonic,CEACAM21,NA,synonymous SNV,"CEACAM21:NM_001098506:exon4:c.G756T:p.V252V,CEACAM21:NM_001290113:exon4:c.G369T:p.V123V,CEACAM21:NM_033543:exon4:c.G753T:p.V251V,CEACAM21:NM_001288773:exon5:c.G372T:p.V124V",NA,NA,NA,NA,NA,NA
chr19,42301880,42301880,C,T,P270959_S,CEACAM3,Nonsense_Mutation,NM_001277163,exon2,c.C424T,p.Q142X,SNP,SNVindel,exonic,CEACAM3,NA,stopgain,"CEACAM3:NM_001277163:exon2:c.C424T:p.Q142X,CEACAM3:NM_001815:exon2:c.C424T:p.Q142X",.,.,A,.,.,.
chr19,42341383,42341383,G,A,P270959_S,LYPD4,Missense_Mutation,NM_001291419,exon5,c.C470T,p.A157V,SNP,SNVindel,exonic,LYPD4,NA,nonsynonymous SNV,"LYPD4:NM_001291419:exon5:c.C470T:p.A157V,LYPD4:NM_173506:exon5:c.C575T:p.A192V",T,N,D,T,N,T
chr19,42703613,42703613,G,A,P270959_S,DEDD2,Missense_Mutation,NM_001270614,exon5,c.C958T,p.R320W,SNP,SNVindel,exonic,DEDD2,NA,nonsynonymous SNV,"DEDD2:NM_001270614:exon5:c.C958T:p.R320W,DEDD2:NM_001270615:exon5:c.C943T:p.R315W,DEDD2:NM_133328:exon5:c.C958T:p.R320W",.,U,N,.,.,T
chr19,42729449,42729449,G,A,P270959_S,ZNF526,Silent,NM_001314033,exon3,c.G894A,p.P298P,SNP,SNVindel,exonic,ZNF526,NA,synonymous SNV,"ZNF526:NM_001314033:exon3:c.G894A:p.P298P,ZNF526:NM_133444:exon3:c.G894A:p.P298P",NA,NA,NA,NA,NA,NA
chr19,42818459,42818459,G,A,P270959_S,TMEM145,Silent,NM_001366910,exon2,c.G156A,p.S52S,SNP,SNVindel,exonic,TMEM145,NA,synonymous SNV,"TMEM145:NM_001366910:exon2:c.G156A:p.S52S,TMEM145:NM_173633:exon2:c.G156A:p.S52S",NA,NA,NA,NA,NA,NA
chr19,42911385,42911385,C,T,P270959_S,LIPE,Missense_Mutation,NM_005357,exon6,c.G2078A,p.R693H,SNP,SNVindel,exonic,LIPE,NA,nonsynonymous SNV,LIPE:NM_005357:exon6:c.G2078A:p.R693H,D,N,D,T,D,T
chr19,43858105,43858105,C,T,P270959_S,CD177,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CD177,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,44117682,44117682,C,T,P270959_S,SRRM5,Missense_Mutation,NM_001145641,exon1,c.C1409T,p.A470V,SNP,SNVindel,exonic,SRRM5,NA,nonsynonymous SNV,SRRM5:NM_001145641:exon1:c.C1409T:p.A470V,T,.,N,.,N,T
chr19,44278519,44278519,G,A,P270959_S,KCNN4,Missense_Mutation,NM_002250,exon3,c.C508T,p.R170C,SNP,SNVindel,exonic,KCNN4,NA,nonsynonymous SNV,KCNN4:NM_002250:exon3:c.C508T:p.R170C,D,D,D,D,D,D
chr19,45998117,45998117,C,T,P270959_S,RTN2,Missense_Mutation,NM_005619,exon3,c.G226A,p.G76R,SNP,SNVindel,exonic,RTN2,NA,nonsynonymous SNV,"RTN2:NM_005619:exon3:c.G226A:p.G76R,RTN2:NM_206900:exon3:c.G226A:p.G76R",D,N,D,T,N,T
chr19,46282591,46282591,G,A,P270959_S,DMPK,Silent,NM_001288765,exon2,c.C96T,p.D32D,SNP,SNVindel,exonic,DMPK,NA,synonymous SNV,"DMPK:NM_001288765:exon2:c.C96T:p.D32D,DMPK:NM_001081563:exon3:c.C393T:p.D131D,DMPK:NM_001081560:exon4:c.C363T:p.D121D,DMPK:NM_001081562:exon4:c.C363T:p.D121D,DMPK:NM_001288766:exon4:c.C363T:p.D121D,DMPK:NM_004409:exon4:c.C363T:p.D121D,DMPK:NM_001288764:exon5:c.C441T:p.D147D",NA,NA,NA,NA,NA,NA
chr19,46319398,46319398,C,T,P270959_S,SYMPK,Missense_Mutation,NM_004819,exon26,c.G3398A,p.R1133Q,SNP,SNVindel,exonic,SYMPK,NA,nonsynonymous SNV,SYMPK:NM_004819:exon26:c.G3398A:p.R1133Q,D,N,N,.,N,T
chr19,47126874,47126874,G,A,P270959_S,PTGIR,Silent,NM_000960,exon2,c.C609T,p.N203N,SNP,SNVindel,exonic,PTGIR,NA,synonymous SNV,PTGIR:NM_000960:exon2:c.C609T:p.N203N,NA,NA,NA,NA,NA,NA
chr19,47951365,47951365,G,A,P270959_S,SLC8A2,Silent,NM_015063,exon4,c.C1464T,p.G488G,SNP,SNVindel,exonic,SLC8A2,NA,synonymous SNV,SLC8A2:NM_015063:exon4:c.C1464T:p.G488G,NA,NA,NA,NA,NA,NA
chr19,47960421,47960421,C,T,P270959_S,SLC8A2,Missense_Mutation,NM_015063,exon3,c.G1106A,p.R369H,SNP,SNVindel,exonic,SLC8A2,NA,nonsynonymous SNV,SLC8A2:NM_015063:exon3:c.G1106A:p.R369H,D,N,D,T,D,T
chr19,48244640,48244640,G,A,P270959_S,EHD2,Missense_Mutation,NM_014601,exon6,c.G1583A,p.R528H,SNP,SNVindel,exonic,EHD2,NA,nonsynonymous SNV,EHD2:NM_014601:exon6:c.G1583A:p.R528H,T,N,N,T,N,T
chr19,48790081,48790081,G,A,P270959_S,ZNF114,Silent,NM_001331097,exon6,c.G1200A,p.S400S,SNP,SNVindel,exonic,ZNF114,NA,synonymous SNV,"ZNF114:NM_001331097:exon6:c.G1200A:p.S400S,ZNF114:NM_001331098:exon6:c.G1338A:p.S446S,ZNF114:NM_001369811:exon6:c.G1200A:p.S400S,ZNF114:NM_001369812:exon6:c.G1200A:p.S400S,ZNF114:NM_153608:exon6:c.G1200A:p.S400S",NA,NA,NA,NA,NA,NA
chr19,49129528,49129528,C,T,P270959_S,SPHK2,Silent,NM_001204160,exon2,c.C312T,p.A104A,SNP,SNVindel,exonic,SPHK2,NA,synonymous SNV,"SPHK2:NM_001204160:exon2:c.C312T:p.A104A,SPHK2:NM_001204158:exon3:c.C243T:p.A81A,SPHK2:NM_001204159:exon3:c.C420T:p.A140A,SPHK2:NM_020126:exon3:c.C420T:p.A140A",NA,NA,NA,NA,NA,NA
chr19,49425646,49425646,C,T,P270959_S,NUCB1,Missense_Mutation,NM_006184,exon13,c.C1351T,p.R451W,SNP,SNVindel,exonic,NUCB1,NA,nonsynonymous SNV,NUCB1:NM_006184:exon13:c.C1351T:p.R451W,D,N,N,T,N,T
chr19,49657845,49657845,C,T,P270959_S,HRC,Missense_Mutation,NM_002152,exon1,c.G650A,p.R217Q,SNP,SNVindel,exonic,HRC,NA,nonsynonymous SNV,HRC:NM_002152:exon1:c.G650A:p.R217Q,T,.,N,T,N,T
chr19,50308928,50308928,G,A,P270959_S,AP2A1,Missense_Mutation,NM_130787,exon20,c.G2479A,p.A827T,SNP,SNVindel,exonic,AP2A1,NA,nonsynonymous SNV,"AP2A1:NM_130787:exon20:c.G2479A:p.A827T,AP2A1:NM_014203:exon21:c.G2545A:p.A849T",T,N,N,T,N,T
chr19,50905094,50905094,C,T,P270959_S,POLD1,Missense_Mutation,NM_001308632,exon3,c.C376T,p.R126C,SNP,SNVindel,exonic,POLD1,NA,nonsynonymous SNV,"POLD1:NM_001308632:exon3:c.C376T:p.R126C,POLD1:NM_001256849:exon4:c.C376T:p.R126C,POLD1:NM_002691:exon4:c.C376T:p.R126C",D,N,D,T,D,T
chr19,50957350,50957350,C,T,P270959_S,MYBPC2,Missense_Mutation,NM_004533,exon17,c.C1823T,p.A608V,SNP,SNVindel,exonic,MYBPC2,NA,nonsynonymous SNV,MYBPC2:NM_004533:exon17:c.C1823T:p.A608V,T,U,D,T,D,T
chr19,51506994,51506994,G,A,P270959_S,KLK9,Missense_Mutation,NM_012315,exon4,c.C569T,p.A190V,SNP,SNVindel,exonic,KLK9,NA,nonsynonymous SNV,KLK9:NM_012315:exon4:c.C569T:p.A190V,.,.,D,D,.,D
chr19,52090913,52090913,G,A,P270959_S,ZNF175,Silent,NM_007147,exon5,c.G1329A,p.G443G,SNP,SNVindel,exonic,ZNF175,NA,synonymous SNV,ZNF175:NM_007147:exon5:c.G1329A:p.G443G,NA,NA,NA,NA,NA,NA
chr19,53855217,53855217,G,A,P270959_S,ZNF845,Missense_Mutation,NM_138374,exon4,c.G1289A,p.R430H,SNP,SNVindel,exonic,ZNF845,NA,nonsynonymous SNV,"ZNF845:NM_138374:exon4:c.G1289A:p.R430H,ZNF845:NM_001321522:exon5:c.G1289A:p.R430H,ZNF845:NM_001321523:exon5:c.G1289A:p.R430H,ZNF845:NM_001321524:exon5:c.G1289A:p.R430H",T,.,N,T,N,T
chr19,53952853,53952853,A,G,P270959_S,ZNF761,Missense_Mutation,NM_001289953,exon3,c.A104G,p.D35G,SNP,SNVindel,exonic,ZNF761;ZNF765-ZNF761,NA,nonsynonymous SNV,"ZNF761:NM_001289953:exon3:c.A104G:p.D35G,ZNF761:NM_001289951:exon4:c.A104G:p.D35G,ZNF761:NM_001289952:exon4:c.A104G:p.D35G,ZNF761:NM_001008401:exon5:c.A104G:p.D35G,ZNF765-ZNF761:NM_001350496:exon12:c.A104G:p.D35G",.,.,.,.,.,.
chr19,53989974,53989974,A,G,P270959_S,ZNF813,Missense_Mutation,NM_001004301,exon3,c.A104G,p.D35G,SNP,SNVindel,exonic,ZNF813,NA,nonsynonymous SNV,ZNF813:NM_001004301:exon3:c.A104G:p.D35G,D,.,N,T,D,T
chr19,54496290,54496290,G,T,P270959_S,CACNG6,Silent,NM_031897,exon1,c.G159T,p.A53A,SNP,SNVindel,exonic,CACNG6,NA,synonymous SNV,"CACNG6:NM_031897:exon1:c.G159T:p.A53A,CACNG6:NM_145814:exon1:c.G159T:p.A53A,CACNG6:NM_145815:exon1:c.G159T:p.A53A",NA,NA,NA,NA,NA,NA
chr19,54819011,54819011,C,T,P270959_S,LILRA5,Silent,NM_181985,exon5,c.G699A,p.P233P,SNP,SNVindel,exonic,LILRA5,NA,synonymous SNV,"LILRA5:NM_181985:exon5:c.G699A:p.P233P,LILRA5:NM_021250:exon6:c.G735A:p.P245P",NA,NA,NA,NA,NA,NA
chr19,54849712,54849712,C,T,P270959_S,LILRA4,Missense_Mutation,NM_012276,exon3,c.G310A,p.A104T,SNP,SNVindel,exonic,LILRA4,NA,nonsynonymous SNV,LILRA4:NM_012276:exon3:c.G310A:p.A104T,T,N,N,T,N,T
chr19,55494085,55494085,C,T,P270959_S,NLRP2,Missense_Mutation,NM_001174082,exon5,c.C953T,p.A318V,SNP,SNVindel,exonic,NLRP2,NA,nonsynonymous SNV,"NLRP2:NM_001174082:exon5:c.C953T:p.A318V,NLRP2:NM_001174081:exon6:c.C1019T:p.A340V,NLRP2:NM_001348003:exon6:c.C1010T:p.A337V,NLRP2:NM_017852:exon6:c.C1019T:p.A340V,NLRP2:NM_001174083:exon7:c.C950T:p.A317V",D,.,N,T,D,T
chr19,55994405,55994405,G,A,P270959_S,ZNF628,Silent,NM_033113,exon3,c.G1845A,p.T615T,SNP,SNVindel,exonic,ZNF628,NA,synonymous SNV,ZNF628:NM_033113:exon3:c.G1845A:p.T615T,NA,NA,NA,NA,NA,NA
chr19,57061472,57061472,C,T,P270959_S,ZFP28,Missense_Mutation,NM_001308440,exon6,c.C724T,p.R242C,SNP,SNVindel,exonic,ZFP28,NA,nonsynonymous SNV,"ZFP28:NM_001308440:exon6:c.C724T:p.R242C,ZFP28:NM_020828:exon6:c.C724T:p.R242C",D,N,N,T,N,T
chr19,59025574,59025574,G,A,P270959_S,ZBTB45,Silent,NM_001316978,exon3,c.C1383T,p.C461C,SNP,SNVindel,exonic,ZBTB45,NA,synonymous SNV,"ZBTB45:NM_001316978:exon3:c.C1383T:p.C461C,ZBTB45:NM_001316979:exon3:c.C1383T:p.C461C,ZBTB45:NM_001316980:exon3:c.C1383T:p.C461C,ZBTB45:NM_001316981:exon3:c.C1383T:p.C461C,ZBTB45:NM_001316982:exon3:c.C1383T:p.C461C,ZBTB45:NM_032792:exon3:c.C1383T:p.C461C",NA,NA,NA,NA,NA,NA
chr20,1293323,1293323,G,A,P270959_S,SDCBP2,Silent,NM_015685,exon2,c.C213T,p.D71D,SNP,SNVindel,exonic,SDCBP2,NA,synonymous SNV,"SDCBP2:NM_015685:exon2:c.C213T:p.D71D,SDCBP2:NM_001199784:exon6:c.C468T:p.D156D,SDCBP2:NM_080489:exon6:c.C468T:p.D156D",NA,NA,NA,NA,NA,NA
chr20,2736394,2736394,C,T,P270959_S,EBF4,Silent,NM_001110514,exon16,c.C1650T,p.S550S,SNP,SNVindel,exonic,EBF4,NA,synonymous SNV,EBF4:NM_001110514:exon16:c.C1650T:p.S550S,NA,NA,NA,NA,NA,NA
chr20,3553543,3553543,G,A,P270959_S,ATRN,Silent,NM_001207047,exon12,c.G1689A,p.A563A,SNP,SNVindel,exonic,ATRN,NA,synonymous SNV,"ATRN:NM_001207047:exon12:c.G1689A:p.A563A,ATRN:NM_001323332:exon12:c.G2037A:p.A679A,ATRN:NM_139321:exon12:c.G2037A:p.A679A,ATRN:NM_139322:exon12:c.G2037A:p.A679A",NA,NA,NA,NA,NA,NA
chr20,3804834,3804834,C,T,P270959_S,AP5S1,Missense_Mutation,NM_001204446,exon3,c.C493T,p.R165C,SNP,SNVindel,exonic,AP5S1,NA,nonsynonymous SNV,"AP5S1:NM_001204446:exon3:c.C493T:p.R165C,AP5S1:NM_001204447:exon3:c.C493T:p.R165C,AP5S1:NM_018347:exon3:c.C493T:p.R165C",D,N,D,.,D,T
chr20,4771209,4771209,C,T,P270959_S,RASSF2,Missense_Mutation,NM_170774,exon6,c.G425A,p.R142H,SNP,SNVindel,exonic,RASSF2,NA,nonsynonymous SNV,"RASSF2:NM_170774:exon6:c.G425A:p.R142H,RASSF2:NM_014737:exon7:c.G425A:p.R142H",D,D,D,T,D,T
chr20,5753615,5753615,G,A,P270959_S,SHLD1,Missense_Mutation,NM_001303479,exon2,c.G104A,p.S35N,SNP,SNVindel,exonic,SHLD1,NA,nonsynonymous SNV,"SHLD1:NM_001303479:exon2:c.G104A:p.S35N,SHLD1:NM_152504:exon2:c.G104A:p.S35N,SHLD1:NM_001303477:exon3:c.G104A:p.S35N",T,N,N,T,N,T
chr20,8696945,8696945,C,T,P270959_S,PLCB1,Nonsense_Mutation,NM_015192,exon13,c.C1285T,p.R429X,SNP,SNVindel,exonic,PLCB1,NA,stopgain,"PLCB1:NM_015192:exon13:c.C1285T:p.R429X,PLCB1:NM_182734:exon13:c.C1285T:p.R429X",.,D,A,.,.,.
chr20,9417737,9417737,G,A,P270959_S,PLCB4,Missense_Mutation,NM_000933,exon26,c.G2666A,p.S889N,SNP,SNVindel,exonic,PLCB4,NA,nonsynonymous SNV,"PLCB4:NM_000933:exon26:c.G2666A:p.S889N,PLCB4:NM_182797:exon27:c.G2666A:p.S889N,PLCB4:NM_001172646:exon29:c.G2702A:p.S901N",T,D,D,T,N,T
chr20,21142998,21142998,G,A,P270959_S,KIZ,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,KIZ,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr20,23667808,23667808,C,T,P270959_S,CST4,Missense_Mutation,NM_001899,exon2,c.G259A,p.V87I,SNP,SNVindel,exonic,CST4,NA,nonsynonymous SNV,CST4:NM_001899:exon2:c.G259A:p.V87I,T,N,N,T,N,T
chr20,30584610,30584610,G,A,P270959_S,XKR7,Missense_Mutation,NM_001011718,exon3,c.G1090A,p.V364M,SNP,SNVindel,exonic,XKR7,NA,nonsynonymous SNV,XKR7:NM_001011718:exon3:c.G1090A:p.V364M,.,N,D,.,.,T
chr20,31984567,31984567,C,A,P270959_S,CDK5RAP1,Missense_Mutation,NM_001278167,exon2,c.G304T,p.V102F,SNP,SNVindel,exonic,CDK5RAP1,NA,nonsynonymous SNV,"CDK5RAP1:NM_001278167:exon2:c.G304T:p.V102F,CDK5RAP1:NM_001278168:exon2:c.G304T:p.V102F,CDK5RAP1:NM_001278169:exon2:c.G223T:p.V75F,CDK5RAP1:NM_001365728:exon2:c.G304T:p.V102F,CDK5RAP1:NM_016082:exon2:c.G307T:p.V103F,CDK5RAP1:NM_016408:exon2:c.G304T:p.V102F",T,D,D,.,D,T
chr20,33045245,33045245,C,T,P270959_S,ITCH,Nonsense_Mutation,NM_001257138,exon12,c.C931T,p.R311X,SNP,SNVindel,exonic,ITCH,NA,stopgain,"ITCH:NM_001257138:exon12:c.C931T:p.R311X,ITCH:NM_001324198:exon13:c.C1261T:p.R421X,ITCH:NM_031483:exon13:c.C1261T:p.R421X,ITCH:NM_001257137:exon14:c.C1384T:p.R462X,ITCH:NM_001324197:exon14:c.C1384T:p.R462X",.,D,A,.,.,.
chr20,33582110,33582110,C,T,P270959_S,MYH7B,Missense_Mutation,NM_020884,exon27,c.C2732T,p.A911V,SNP,SNVindel,exonic,MYH7B,NA,nonsynonymous SNV,MYH7B:NM_020884:exon27:c.C2732T:p.A911V,T,N,D,D,N,D
chr20,33586973,33586973,A,G,P270959_S,MYH7B,Silent,NM_020884,exon36,c.A4431G,p.V1477V,SNP,SNVindel,exonic,MYH7B,NA,synonymous SNV,MYH7B:NM_020884:exon36:c.A4431G:p.V1477V,NA,NA,NA,NA,NA,NA
chr20,36993302,36993302,C,T,P270959_S,LBP,Missense_Mutation,NM_004139,exon8,c.C817T,p.H273Y,SNP,SNVindel,exonic,LBP,NA,nonsynonymous SNV,LBP:NM_004139:exon8:c.C817T:p.H273Y,D,N,N,T,D,T
chr20,37353463,37353463,T,G,P270959_S,SLC32A1,Silent,NM_080552,exon1,c.T96G,p.G32G,SNP,SNVindel,exonic,SLC32A1,NA,synonymous SNV,SLC32A1:NM_080552:exon1:c.T96G:p.G32G,NA,NA,NA,NA,NA,NA
chr20,37400424,37400424,G,A,P270959_S,ACTR5,Missense_Mutation,NM_024855,exon9,c.G1789A,p.A597T,SNP,SNVindel,exonic,ACTR5,NA,nonsynonymous SNV,ACTR5:NM_024855:exon9:c.G1789A:p.A597T,D,N,N,D,N,T
chr20,42343897,42343897,C,A,P270959_S,MYBL2,Silent,NM_001278610,exon12,c.C1876A,p.R626R,SNP,SNVindel,exonic,MYBL2,NA,synonymous SNV,"MYBL2:NM_001278610:exon12:c.C1876A:p.R626R,MYBL2:NM_002466:exon13:c.C1948A:p.R650R",NA,NA,NA,NA,NA,NA
chr20,43030028,43030028,A,C,P270959_S,HNF4A,Missense_Mutation,NM_000457,exon1,c.A16C,p.T6P,SNP,SNVindel,exonic,HNF4A,NA,nonsynonymous SNV,"HNF4A:NM_000457:exon1:c.A16C:p.T6P,HNF4A:NM_178849:exon1:c.A16C:p.T6P,HNF4A:NM_178850:exon1:c.A16C:p.T6P",T,.,D,D,N,T
chr20,46292273,46292273,G,A,P270959_S,SULF2,Silent,NM_001161841,exon16,c.C2151T,p.N717N,SNP,SNVindel,exonic,SULF2,NA,synonymous SNV,"SULF2:NM_001161841:exon16:c.C2151T:p.N717N,SULF2:NM_018837:exon16:c.C2151T:p.N717N,SULF2:NM_198596:exon16:c.C2151T:p.N717N",NA,NA,NA,NA,NA,NA
chr20,47733750,47733750,G,A,P270959_S,STAU1,Silent,NM_001322927,exon10,c.C1320T,p.N440N,SNP,SNVindel,exonic,STAU1,NA,synonymous SNV,"STAU1:NM_001322927:exon10:c.C1320T:p.N440N,STAU1:NM_017454:exon10:c.C1302T:p.N434N,STAU1:NM_001319134:exon11:c.C1320T:p.N440N,STAU1:NM_001322930:exon11:c.C1545T:p.N515N,STAU1:NM_001322932:exon11:c.C1563T:p.N521N,STAU1:NM_017452:exon11:c.C1302T:p.N434N,STAU1:NM_001037328:exon12:c.C1320T:p.N440N,STAU1:NM_001322933:exon12:c.C1563T:p.N521N,STAU1:NM_004602:exon12:c.C1302T:p.N434N,STAU1:NM_017453:exon12:c.C1545T:p.N515N,STAU1:NM_001319135:exon13:c.C1545T:p.N515N,STAU1:NM_001322928:exon13:c.C1440T:p.N480N,STAU1:NM_001322929:exon13:c.C1545T:p.N515N,STAU1:NM_001322931:exon14:c.C1422T:p.N474N",NA,NA,NA,NA,NA,NA
chr20,49621046,49621046,G,A,P270959_S,KCNG1,Missense_Mutation,NM_002237,exon3,c.C1072T,p.R358C,SNP,SNVindel,exonic,KCNG1,NA,nonsynonymous SNV,KCNG1:NM_002237:exon3:c.C1072T:p.R358C,D,D,D,D,D,D
chr20,57766659,57766659,G,A,P270959_S,ZNF831,Silent,NM_178457,exon1,c.G585A,p.T195T,SNP,SNVindel,exonic,ZNF831,NA,synonymous SNV,ZNF831:NM_178457:exon1:c.G585A:p.T195T,NA,NA,NA,NA,NA,NA
chr20,60883769,60883769,C,T,P270959_S,ADRM1,Silent,NM_001281437,exon9,c.C1059T,p.G353G,SNP,SNVindel,exonic,ADRM1,NA,synonymous SNV,"ADRM1:NM_001281437:exon9:c.C1059T:p.G353G,ADRM1:NM_001281438:exon9:c.C1059T:p.G353G,ADRM1:NM_007002:exon10:c.C1176T:p.G392G,ADRM1:NM_175573:exon10:c.C1176T:p.G392G",NA,NA,NA,NA,NA,NA
chr20,60887366,60887366,G,A,P270959_S,LAMA5,Missense_Mutation,NM_005560,exon69,c.C9367T,p.R3123C,SNP,SNVindel,exonic,LAMA5,NA,nonsynonymous SNV,LAMA5:NM_005560:exon69:c.C9367T:p.R3123C,D,D,D,T,D,T
chr20,62046351,62046351,G,T,P270959_S,KCNQ2,Missense_Mutation,NM_004518,exon11,c.C1346A,p.P449H,SNP,SNVindel,exonic,KCNQ2,NA,nonsynonymous SNV,"KCNQ2:NM_004518:exon11:c.C1346A:p.P449H,KCNQ2:NM_172106:exon12:c.C1376A:p.P459H,KCNQ2:NM_172108:exon12:c.C1340A:p.P447H,KCNQ2:NM_172107:exon13:c.C1430A:p.P477H",D,D,D,D,D,D
chr20,62166308,62166308,G,A,P270959_S,PTK6,Missense_Mutation,NM_005975,exon2,c.C335T,p.A112V,SNP,SNVindel,exonic,PTK6,NA,nonsynonymous SNV,PTK6:NM_005975:exon2:c.C335T:p.A112V,.,N,N,.,.,T
chr20,62187663,62187663,C,T,P270959_S,FNDC11,Missense_Mutation,NM_001319152,exon2,c.C647T,p.A216V,SNP,SNVindel,exonic,FNDC11,NA,nonsynonymous SNV,"FNDC11:NM_001319152:exon2:c.C647T:p.A216V,FNDC11:NM_001319153:exon2:c.C647T:p.A216V,FNDC11:NM_024059:exon2:c.C647T:p.A216V",D,N,N,.,N,T
chr20,62196178,62196178,G,A,P270959_S,HELZ2,Missense_Mutation,NM_033405,exon3,c.C2290T,p.R764C,SNP,SNVindel,exonic,HELZ2,NA,nonsynonymous SNV,"HELZ2:NM_033405:exon3:c.C2290T:p.R764C,HELZ2:NM_001037335:exon9:c.C3997T:p.R1333C",T,N,N,T,N,T
chr21,31655176,31655176,A,G,P270959_S,KRTAP24-1,Silent,NM_001085455,exon1,c.T75C,p.Y25Y,SNP,SNVindel,exonic,KRTAP24-1,NA,synonymous SNV,KRTAP24-1:NM_001085455:exon1:c.T75C:p.Y25Y,NA,NA,NA,NA,NA,NA
chr21,31802772,31802772,G,A,P270959_S,KRTAP13-4,Missense_Mutation,NM_181600,exon1,c.G179A,p.S60N,SNP,SNVindel,exonic,KRTAP13-4,NA,nonsynonymous SNV,KRTAP13-4:NM_181600:exon1:c.G179A:p.S60N,T,N,N,T,N,T
chr21,33697563,33697563,G,A,P270959_S,URB1,Silent,NM_014825,exon31,c.C5097T,p.G1699G,SNP,SNVindel,exonic,URB1,NA,synonymous SNV,URB1:NM_014825:exon31:c.C5097T:p.G1699G,NA,NA,NA,NA,NA,NA
chr21,35144467,35144467,G,A,P270959_S,ITSN1,Missense_Mutation,NM_001001132,exon12,c.G1145A,p.R382H,SNP,SNVindel,exonic,ITSN1,NA,nonsynonymous SNV,"ITSN1:NM_001001132:exon12:c.G1145A:p.R382H,ITSN1:NM_001331008:exon12:c.G1145A:p.R382H,ITSN1:NM_001331009:exon12:c.G1145A:p.R382H,ITSN1:NM_001331010:exon12:c.G1145A:p.R382H,ITSN1:NM_001331011:exon12:c.G1145A:p.R382H,ITSN1:NM_001331012:exon12:c.G1034A:p.R345H,ITSN1:NM_003024:exon12:c.G1145A:p.R382H",D,D,D,T,D,T
chr21,43161373,43161373,G,A,P270959_S,RIPK4,Silent,NM_020639,exon8,c.C1980T,p.G660G,SNP,SNVindel,exonic,RIPK4,NA,synonymous SNV,RIPK4:NM_020639:exon8:c.C1980T:p.G660G,NA,NA,NA,NA,NA,NA
chr21,43533711,43533711,C,A,P270959_S,UMODL1,Silent,NM_001199527,exon12,c.C2301A,p.V767V,SNP,SNVindel,exonic,UMODL1,NA,synonymous SNV,"UMODL1:NM_001199527:exon12:c.C2301A:p.V767V,UMODL1:NM_173568:exon12:c.C2517A:p.V839V,UMODL1:NM_001004416:exon13:c.C2133A:p.V711V,UMODL1:NM_001199528:exon13:c.C1917A:p.V639V",NA,NA,NA,NA,NA,NA
chr21,47630622,47630622,C,T,P270959_S,LSS,Missense_Mutation,NM_001145437,exon11,c.G934A,p.A312T,SNP,SNVindel,exonic,LSS,NA,nonsynonymous SNV,"LSS:NM_001145437:exon11:c.G934A:p.A312T,LSS:NM_001001438:exon12:c.G1174A:p.A392T,LSS:NM_001145436:exon12:c.G1141A:p.A381T,LSS:NM_002340:exon12:c.G1174A:p.A392T",T,N,D,T,N,T
chr21,47849984,47849984,C,T,P270959_S,PCNT,Missense_Mutation,NM_001315529,exon36,c.C7397T,p.T2466M,SNP,SNVindel,exonic,PCNT,NA,nonsynonymous SNV,"PCNT:NM_001315529:exon36:c.C7397T:p.T2466M,PCNT:NM_006031:exon36:c.C7751T:p.T2584M",D,.,N,T,D,T
chr22,17449202,17449202,C,T,P270959_S,GAB4,Missense_Mutation,NM_001366857,exon3,c.G550A,p.V184I,SNP,SNVindel,exonic,GAB4,NA,nonsynonymous SNV,"GAB4:NM_001366857:exon3:c.G550A:p.V184I,GAB4:NM_001037814:exon5:c.G1009A:p.V337I",T,N,N,T,N,T
chr22,18210150,18210150,G,A,P270959_S,BCL2L13,Silent,NM_001270733,exon2,c.G468A,p.P156P,SNP,SNVindel,exonic,BCL2L13,NA,synonymous SNV,"BCL2L13:NM_001270733:exon2:c.G468A:p.P156P,BCL2L13:NM_001270727:exon5:c.G1236A:p.P412P,BCL2L13:NM_001270730:exon5:c.G822A:p.P274P,BCL2L13:NM_001270726:exon6:c.G1380A:p.P460P,BCL2L13:NM_001270729:exon6:c.G822A:p.P274P,BCL2L13:NM_001270731:exon6:c.G822A:p.P274P,BCL2L13:NM_015367:exon7:c.G1308A:p.P436P",NA,NA,NA,NA,NA,NA
chr22,18300493,18300493,C,T,P270959_S,MICAL3,Missense_Mutation,NM_015241,exon26,c.G4934A,p.R1645H,SNP,SNVindel,exonic,MICAL3,NA,nonsynonymous SNV,MICAL3:NM_015241:exon26:c.G4934A:p.R1645H,T,N,N,T,N,T
chr22,18609386,18609386,G,A,P270959_S,TUBA8,Missense_Mutation,NM_001193414,exon4,c.G443A,p.R148H,SNP,SNVindel,exonic,TUBA8,NA,nonsynonymous SNV,"TUBA8:NM_001193414:exon4:c.G443A:p.R148H,TUBA8:NM_018943:exon4:c.G641A:p.R214H",D,D,D,T,D,T
chr22,20796589,20796589,C,T,P270959_S,KLHL22,Missense_Mutation,NM_032775,exon7,c.G1676A,p.R559H,SNP,SNVindel,exonic,KLHL22,NA,nonsynonymous SNV,KLHL22:NM_032775:exon7:c.G1676A:p.R559H,D,D,D,T,N,T
chr22,21402234,21402234,G,A,P270959_S,LRRC74B,Missense_Mutation,NM_001291006,exon3,c.G344A,p.R115Q,SNP,SNVindel,exonic,LRRC74B,NA,nonsynonymous SNV,LRRC74B:NM_001291006:exon3:c.G344A:p.R115Q,T,.,D,T,N,T
chr22,28194052,28194052,G,A,P270959_S,MN1,Missense_Mutation,NM_002430,exon1,c.C2480T,p.A827V,SNP,SNVindel,exonic,MN1,NA,nonsynonymous SNV,MN1:NM_002430:exon1:c.C2480T:p.A827V,D,D,D,T,D,T
chr22,29834909,29834909,C,T,P270959_S,RFPL1,Silent,NM_021026,exon1,c.C129T,p.C43C,SNP,SNVindel,exonic,RFPL1,NA,synonymous SNV,RFPL1:NM_021026:exon1:c.C129T:p.C43C,NA,NA,NA,NA,NA,NA
chr22,30387620,30387620,G,A,P270959_S,MTMR3,Missense_Mutation,NM_021090,exon7,c.G421A,p.A141T,SNP,SNVindel,exonic,MTMR3,NA,nonsynonymous SNV,"MTMR3:NM_021090:exon7:c.G421A:p.A141T,MTMR3:NM_153050:exon7:c.G421A:p.A141T,MTMR3:NM_153051:exon7:c.G421A:p.A141T",T,D,D,D,N,D
chr22,31032656,31032656,G,A,P270959_S,SLC35E4,Silent,NM_001001479,exon1,c.G219A,p.V73V,SNP,SNVindel,exonic,SLC35E4,NA,synonymous SNV,"SLC35E4:NM_001001479:exon1:c.G219A:p.V73V,SLC35E4:NM_001318370:exon1:c.G219A:p.V73V,SLC35E4:NM_001318371:exon1:c.G219A:p.V73V",NA,NA,NA,NA,NA,NA
chr22,32109994,32109994,G,A,P270959_S,PRR14L,Silent,NM_173566,exon4,c.C3831T,p.C1277C,SNP,SNVindel,exonic,PRR14L,NA,synonymous SNV,PRR14L:NM_173566:exon4:c.C3831T:p.C1277C,NA,NA,NA,NA,NA,NA
chr22,32992684,32992684,T,C,P270959_S,SYN3,Silent,NM_133633,exon6,c.A750G,p.G250G,SNP,SNVindel,exonic,SYN3,NA,synonymous SNV,"SYN3:NM_133633:exon6:c.A750G:p.G250G,SYN3:NM_001135774:exon7:c.A747G:p.G249G,SYN3:NM_001369907:exon7:c.A750G:p.G250G,SYN3:NM_001369908:exon7:c.A750G:p.G250G,SYN3:NM_001369909:exon7:c.A747G:p.G249G,SYN3:NM_001369910:exon7:c.A747G:p.G249G,SYN3:NM_003490:exon7:c.A750G:p.G250G",NA,NA,NA,NA,NA,NA
chr22,33733727,33733727,G,A,P270959_S,LARGE1,Missense_Mutation,NM_001362951,exon10,c.C1192T,p.R398C,SNP,SNVindel,exonic,LARGE1,NA,nonsynonymous SNV,"LARGE1:NM_001362951:exon10:c.C1192T:p.R398C,LARGE1:NM_001362953:exon10:c.C1192T:p.R398C,LARGE1:NM_133642:exon10:c.C1192T:p.R398C,LARGE1:NM_001362949:exon11:c.C1192T:p.R398C,LARGE1:NM_004737:exon11:c.C1192T:p.R398C",D,D,D,T,D,T
chr22,35809908,35809908,C,T,P270959_S,MCM5,Silent,NM_006739,exon9,c.C1132T,p.L378L,SNP,SNVindel,exonic,MCM5,NA,synonymous SNV,MCM5:NM_006739:exon9:c.C1132T:p.L378L,NA,NA,NA,NA,NA,NA
chr22,37330023,37330023,G,T,P270959_S,CSF2RB,Missense_Mutation,NM_000395,exon10,c.G1302T,p.W434C,SNP,SNVindel,exonic,CSF2RB,NA,nonsynonymous SNV,CSF2RB:NM_000395:exon10:c.G1302T:p.W434C,D,D,D,D,D,D
chr22,38046696,38046696,C,T,P270959_S,SH3BP1,Missense_Mutation,NM_001350055,exon16,c.C1562T,p.P521L,SNP,SNVindel,exonic,SH3BP1,NA,nonsynonymous SNV,"SH3BP1:NM_001350055:exon16:c.C1562T:p.P521L,SH3BP1:NM_018957:exon16:c.C1562T:p.P521L",T,N,N,T,N,T
chr22,38477277,38477277,G,A,P270959_S,SLC16A8,Silent,NM_013356,exon4,c.C768T,p.Y256Y,SNP,SNVindel,exonic,SLC16A8,NA,synonymous SNV,SLC16A8:NM_013356:exon4:c.C768T:p.Y256Y,NA,NA,NA,NA,NA,NA
chr22,38823528,38823528,A,G,P270959_S,KCNJ4,Missense_Mutation,NM_004981,exon2,c.T610C,p.W204R,SNP,SNVindel,exonic,KCNJ4,NA,nonsynonymous SNV,"KCNJ4:NM_004981:exon2:c.T610C:p.W204R,KCNJ4:NM_152868:exon2:c.T610C:p.W204R",D,D,D,D,D,D
chr22,39262495,39262495,C,T,P270959_S,CBX6,Missense_Mutation,NM_001303494,exon5,c.G904A,p.E302K,SNP,SNVindel,exonic,CBX6,NA,nonsynonymous SNV,"CBX6:NM_001303494:exon5:c.G904A:p.E302K,CBX6:NM_014292:exon5:c.G958A:p.E320K",D,N,D,.,N,T
chr22,39811644,39811644,C,T,P270959_S,TAB1,Missense_Mutation,NM_006116,exon3,c.C310T,p.R104C,SNP,SNVindel,exonic,TAB1,NA,nonsynonymous SNV,"TAB1:NM_006116:exon3:c.C310T:p.R104C,TAB1:NM_153497:exon3:c.C310T:p.R104C",D,D,D,T,D,T
chr22,39994228,39994228,C,T,P270959_S,CACNA1I,Silent,NM_001003406,exon2,c.C309T,p.D103D,SNP,SNVindel,exonic,CACNA1I,NA,synonymous SNV,"CACNA1I:NM_001003406:exon2:c.C309T:p.D103D,CACNA1I:NM_021096:exon2:c.C309T:p.D103D",NA,NA,NA,NA,NA,NA
chr22,40417597,40417597,C,T,P270959_S,FAM83F,Silent,NM_138435,exon4,c.C1083T,p.G361G,SNP,SNVindel,exonic,FAM83F,NA,synonymous SNV,FAM83F:NM_138435:exon4:c.C1083T:p.G361G,NA,NA,NA,NA,NA,NA
chr22,41623236,41623236,C,T,P270959_S,L3MBTL2,Silent,NM_031488,exon14,c.C1731T,p.Y577Y,SNP,SNVindel,exonic,L3MBTL2,NA,synonymous SNV,L3MBTL2:NM_031488:exon14:c.C1731T:p.Y577Y,NA,NA,NA,NA,NA,NA
chr22,41752470,41752470,C,T,P270959_S,ZC3H7B,Missense_Mutation,NM_017590,exon21,c.C2507T,p.A836V,SNP,SNVindel,exonic,ZC3H7B,NA,nonsynonymous SNV,ZC3H7B:NM_017590:exon21:c.C2507T:p.A836V,D,D,D,T,N,T
chr22,42539458,42539458,G,A,P270959_S,CYP2D7,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CYP2D7,NA,unknown,UNKNOWN,.,D,.,.,.,T
chr22,44514942,44514942,G,A,P270959_S,PARVB,Missense_Mutation,NM_001243385,exon4,c.G187A,p.V63M,SNP,SNVindel,exonic,PARVB,NA,nonsynonymous SNV,"PARVB:NM_001243385:exon4:c.G187A:p.V63M,PARVB:NM_001243386:exon4:c.G142A:p.V48M,PARVB:NM_013327:exon4:c.G298A:p.V100M,PARVB:NM_001003828:exon5:c.G397A:p.V133M",T,N,D,T,N,T
chr22,47091174,47091174,T,C,P270959_S,CERK,Missense_Mutation,NM_022766,exon9,c.A982G,p.T328A,SNP,SNVindel,exonic,CERK,NA,nonsynonymous SNV,CERK:NM_022766:exon9:c.A982G:p.T328A,T,D,N,T,D,T
chr22,50018190,50018190,C,T,P270959_S,C22orf34,Missense_Mutation,NM_001289922,exon4,c.G271A,p.A91T,SNP,SNVindel,exonic,C22orf34,NA,nonsynonymous SNV,C22orf34:NM_001289922:exon4:c.G271A:p.A91T,NA,NA,NA,NA,NA,NA
chr22,50316957,50316957,C,T,P270959_S,CRELD2,Missense_Mutation,NM_001284318,exon7,c.C764T,p.T255M,SNP,SNVindel,exonic,CRELD2,NA,nonsynonymous SNV,"CRELD2:NM_001284318:exon7:c.C764T:p.T255M,CRELD2:NM_024324:exon7:c.C764T:p.T255M,CRELD2:NM_001135101:exon8:c.C911T:p.T304M",T,N,N,D,N,T
chr22,50356739,50356739,C,T,P270959_S,PIM3,Silent,NM_001001852,exon6,c.C945T,p.D315D,SNP,SNVindel,exonic,PIM3,NA,synonymous SNV,PIM3:NM_001001852:exon6:c.C945T:p.D315D,NA,NA,NA,NA,NA,NA
chr22,50962590,50962590,C,A,P270959_S,SCO2,Missense_Mutation,NM_001169109,exon2,c.G251T,p.R84M,SNP,SNVindel,exonic,SCO2,NA,nonsynonymous SNV,"SCO2:NM_001169109:exon2:c.G251T:p.R84M,SCO2:NM_001169110:exon2:c.G251T:p.R84M,SCO2:NM_001169111:exon2:c.G251T:p.R84M,SCO2:NM_005138:exon2:c.G251T:p.R84M",D,N,N,D,N,T
chrX,3242357,3242357,T,G,P270959_S,MXRA5,Missense_Mutation,NM_015419,exon5,c.A1369C,p.T457P,SNP,SNVindel,exonic,MXRA5,NA,nonsynonymous SNV,MXRA5:NM_015419:exon5:c.A1369C:p.T457P,D,U,N,T,D,T
chrX,3261792,3261792,G,A,P270959_S,MXRA5,Missense_Mutation,NM_015419,exon2,c.C83T,p.P28L,SNP,SNVindel,exonic,MXRA5,NA,nonsynonymous SNV,MXRA5:NM_015419:exon2:c.C83T:p.P28L,D,U,D,T,D,T
chrX,6069349,6069349,G,A,P270959_S,NLGN4X,Silent,NM_001282146,exon2,c.C159T,p.G53G,SNP,SNVindel,exonic,NLGN4X,NA,synonymous SNV,"NLGN4X:NM_001282146:exon2:c.C159T:p.G53G,NLGN4X:NM_020742:exon2:c.C159T:p.G53G,NLGN4X:NM_181332:exon2:c.C159T:p.G53G,NLGN4X:NM_001282145:exon3:c.C159T:p.G53G",NA,NA,NA,NA,NA,NA
chrX,8504935,8504935,C,A,P270959_S,ANOS1,Missense_Mutation,NM_000216,exon11,c.G1498T,p.V500L,SNP,SNVindel,exonic,ANOS1,NA,nonsynonymous SNV,ANOS1:NM_000216:exon11:c.G1498T:p.V500L,D,D,D,T,N,T
chrX,8504959,8504959,G,A,P270959_S,ANOS1,Silent,NM_000216,exon11,c.C1474T,p.L492L,SNP,SNVindel,exonic,ANOS1,NA,synonymous SNV,ANOS1:NM_000216:exon11:c.C1474T:p.L492L,NA,NA,NA,NA,NA,NA
chrX,9900453,9900453,C,T,P270959_S,SHROOM2,Nonsense_Mutation,NM_001649,exon6,c.C3130T,p.R1044X,SNP,SNVindel,exonic,SHROOM2,NA,stopgain,SHROOM2:NM_001649:exon6:c.C3130T:p.R1044X,.,U,A,.,.,.
chrX,17743740,17743740,G,A,P270959_S,NHS,Missense_Mutation,NM_001291868,exon6,c.G920A,p.R307Q,SNP,SNVindel,exonic,NHS,NA,nonsynonymous SNV,"NHS:NM_001291868:exon6:c.G920A:p.R307Q,NHS:NM_198270:exon6:c.G1451A:p.R484Q,NHS:NM_001136024:exon7:c.G983A:p.R328Q,NHS:NM_001291867:exon7:c.G1514A:p.R505Q",D,N,D,T,N,T
chrX,17750558,17750558,G,A,P270959_S,NHS,Missense_Mutation,NM_001291868,exon8,c.G4336A,p.D1446N,SNP,SNVindel,exonic,NHS,NA,nonsynonymous SNV,"NHS:NM_001291868:exon8:c.G4336A:p.D1446N,NHS:NM_198270:exon8:c.G4867A:p.D1623N,NHS:NM_001136024:exon9:c.G4399A:p.D1467N,NHS:NM_001291867:exon9:c.G4930A:p.D1644N",D,D,D,T,N,T
chrX,19410195,19410195,C,T,P270959_S,MAP3K15,Missense_Mutation,NM_001001671,exon18,c.G2356A,p.G786R,SNP,SNVindel,exonic,MAP3K15,NA,nonsynonymous SNV,MAP3K15:NM_001001671:exon18:c.G2356A:p.G786R,D,D,P,T,D,T
chrX,20153857,20153857,T,C,P270959_S,EIF1AX,Missense_Mutation,NM_001412,exon3,c.A203G,p.K68R,SNP,SNVindel,exonic,EIF1AX,NA,nonsynonymous SNV,EIF1AX:NM_001412:exon3:c.A203G:p.K68R,T,.,D,T,N,T
chrX,34149891,34149891,G,C,P270959_S,FAM47A,Missense_Mutation,NM_203408,exon1,c.C505G,p.Q169E,SNP,SNVindel,exonic,FAM47A,NA,nonsynonymous SNV,FAM47A:NM_203408:exon1:c.C505G:p.Q169E,T,.,N,T,N,T
chrX,38024056,38024056,C,T,P270959_S,SRPX,Missense_Mutation,NM_001170750,exon4,c.G559A,p.E187K,SNP,SNVindel,exonic,SRPX,NA,nonsynonymous SNV,"SRPX:NM_001170750:exon4:c.G559A:p.E187K,SRPX:NM_001170751:exon4:c.G442A:p.E148K,SRPX:NM_001170752:exon5:c.G619A:p.E207K,SRPX:NM_006307:exon5:c.G619A:p.E207K",T,D,D,T,N,T
chrX,40597496,40597496,G,A,P270959_S,MED14OS,Missense_Mutation,NM_001289773,exon2,c.G394A,p.A132T,SNP,SNVindel,exonic,MED14OS,NA,nonsynonymous SNV,MED14OS:NM_001289773:exon2:c.G394A:p.A132T,NA,NA,NA,NA,NA,NA
chrX,46359911,46359911,A,G,P270959_S,ZNF674,Silent,NM_001039891,exon6,c.T1113C,p.S371S,SNP,SNVindel,exonic,ZNF674,NA,synonymous SNV,"ZNF674:NM_001039891:exon6:c.T1113C:p.S371S,ZNF674:NM_001146291:exon6:c.T1095C:p.S365S,ZNF674:NM_001190417:exon6:c.T1098C:p.S366S",NA,NA,NA,NA,NA,NA
chrX,46434427,46434427,G,A,P270959_S,CHST7,Missense_Mutation,NM_019886,exon1,c.G1061A,p.R354H,SNP,SNVindel,exonic,CHST7,NA,nonsynonymous SNV,CHST7:NM_019886:exon1:c.G1061A:p.R354H,D,U,D,D,N,D
chrX,48460542,48460542,C,T,P270959_S,WDR13,Missense_Mutation,NM_001166426,exon6,c.C826T,p.R276W,SNP,SNVindel,exonic,WDR13,NA,nonsynonymous SNV,"WDR13:NM_001166426:exon6:c.C826T:p.R276W,WDR13:NM_017883:exon7:c.C1102T:p.R368W,WDR13:NM_001347217:exon8:c.C1102T:p.R368W,WDR13:NM_001347219:exon8:c.C826T:p.R276W",D,D,D,T,D,T
chrX,48759759,48759759,G,A,P270959_S,PQBP1,Missense_Mutation,NM_001167992,exon4,c.G242A,p.R81Q,SNP,SNVindel,exonic,PQBP1,NA,nonsynonymous SNV,"PQBP1:NM_001167992:exon4:c.G242A:p.R81Q,PQBP1:NM_005710:exon4:c.G542A:p.R181Q,PQBP1:NM_001032381:exon5:c.G542A:p.R181Q,PQBP1:NM_001032382:exon5:c.G542A:p.R181Q,PQBP1:NM_001032383:exon5:c.G542A:p.R181Q,PQBP1:NM_001032384:exon5:c.G542A:p.R181Q,PQBP1:NM_001167989:exon5:c.G542A:p.R181Q,PQBP1:NM_001167990:exon5:c.G518A:p.R173Q",D,D,D,T,N,T
chrX,48826586,48826586,C,T,P270959_S,KCND1,Silent,NM_004979,exon1,c.G93A,p.P31P,SNP,SNVindel,exonic,KCND1,NA,synonymous SNV,KCND1:NM_004979:exon1:c.G93A:p.P31P,NA,NA,NA,NA,NA,NA
chrX,49032440,49032440,C,T,P270959_S,PRICKLE3,Missense_Mutation,NM_001307979,exon9,c.G1226A,p.R409H,SNP,SNVindel,exonic,PRICKLE3,NA,nonsynonymous SNV,"PRICKLE3:NM_001307979:exon9:c.G1226A:p.R409H,PRICKLE3:NM_006150:exon9:c.G1430A:p.R477H",.,N,N,T,.,T
chrX,51075901,51075901,G,A,P270959_S,NUDT10,Silent,NM_001304963,exon1,c.G84A,p.E28E,SNP,SNVindel,exonic,NUDT10,NA,synonymous SNV,"NUDT10:NM_001304963:exon1:c.G84A:p.E28E,NUDT10:NM_153183:exon2:c.G84A:p.E28E",NA,NA,NA,NA,NA,NA
chrX,53657924,53657924,C,A,P270959_S,HUWE1,Missense_Mutation,NM_031407,exon12,c.G825T,p.Q275H,SNP,SNVindel,exonic,HUWE1,NA,nonsynonymous SNV,HUWE1:NM_031407:exon12:c.G825T:p.Q275H,D,N,D,T,D,T
chrX,54319333,54319333,G,A,P270959_S,WNK3,Silent,NM_001002838,exon10,c.C2025T,p.V675V,SNP,SNVindel,exonic,WNK3,NA,synonymous SNV,"WNK3:NM_001002838:exon10:c.C2025T:p.V675V,WNK3:NM_020922:exon10:c.C2025T:p.V675V",NA,NA,NA,NA,NA,NA
chrX,54949559,54949559,C,A,P270959_S,TRO,Silent,NM_001039705,exon3,c.C594A,p.T198T,SNP,SNVindel,exonic,TRO,NA,synonymous SNV,"TRO:NM_001039705:exon3:c.C594A:p.T198T,TRO:NM_016157:exon3:c.C594A:p.T198T,TRO:NM_177556:exon3:c.C594A:p.T198T",NA,NA,NA,NA,NA,NA
chrX,55033537,55033537,A,G,P270959_S,APEX2,Missense_Mutation,NM_001271748,exon5,c.A713G,p.D238G,SNP,SNVindel,exonic,APEX2,NA,nonsynonymous SNV,"APEX2:NM_001271748:exon5:c.A713G:p.D238G,APEX2:NM_014481:exon6:c.A1226G:p.D409G",T,N,N,T,N,T
chrX,55247040,55247040,C,T,P270959_S,PAGE5,Missense_Mutation,NM_130467,exon1,c.C8T,p.A3V,SNP,SNVindel,exonic,PAGE5,NA,nonsynonymous SNV,PAGE5:NM_130467:exon1:c.C8T:p.A3V,D,.,N,T,N,T
chrX,57021305,57021305,T,C,P270959_S,SPIN3,Missense_Mutation,NM_001010862,exon2,c.A76G,p.T26A,SNP,SNVindel,exonic,SPIN3,NA,nonsynonymous SNV,SPIN3:NM_001010862:exon2:c.A76G:p.T26A,T,.,N,T,N,T
chrX,57475116,57475116,T,C,P270959_S,FAAH2,Missense_Mutation,NM_001353840,exon9,c.T1268C,p.V423A,SNP,SNVindel,exonic,FAAH2,NA,nonsynonymous SNV,"FAAH2:NM_001353840:exon9:c.T1268C:p.V423A,FAAH2:NM_001353841:exon9:c.T1178C:p.V393A,FAAH2:NM_174912:exon10:c.T1388C:p.V463A",T,U,N,T,N,T
chrX,66765332,66765332,A,G,P270959_S,AR,Missense_Mutation,NM_000044,exon1,c.A344G,p.Q115R,SNP,SNVindel,exonic,AR,NA,nonsynonymous SNV,"AR:NM_000044:exon1:c.A344G:p.Q115R,AR:NM_001348061:exon1:c.A344G:p.Q115R,AR:NM_001348063:exon1:c.A344G:p.Q115R,AR:NM_001348064:exon1:c.A344G:p.Q115R",D,N,N,D,N,D
chrX,69595196,69595196,C,T,P270959_S,KIF4A,Missense_Mutation,NM_012310,exon17,c.C1921T,p.R641W,SNP,SNVindel,exonic,KIF4A,NA,nonsynonymous SNV,KIF4A:NM_012310:exon17:c.C1921T:p.R641W,T,N,D,T,D,T
chrX,73524446,73524446,C,T,P270959_S,ZCCHC13,Silent,NM_203303,exon1,c.C345T,p.C115C,SNP,SNVindel,exonic,ZCCHC13,NA,synonymous SNV,ZCCHC13:NM_203303:exon1:c.C345T:p.C115C,NA,NA,NA,NA,NA,NA
chrX,91091005,91091005,G,A,P270959_S,PCDH11X,Missense_Mutation,NM_001168360,exon1,c.G502A,p.V168I,SNP,SNVindel,exonic,PCDH11X,NA,nonsynonymous SNV,"PCDH11X:NM_001168360:exon1:c.G502A:p.V168I,PCDH11X:NM_001168361:exon1:c.G502A:p.V168I,PCDH11X:NM_001168362:exon1:c.G502A:p.V168I,PCDH11X:NM_001168363:exon1:c.G502A:p.V168I,PCDH11X:NM_032968:exon1:c.G502A:p.V168I,PCDH11X:NM_032969:exon1:c.G502A:p.V168I",T,N,N,T,N,T
chrX,106846480,106846480,G,A,P270959_S,FRMPD3,Silent,NM_032428,exon16,c.G5310A,p.Q1770Q,SNP,SNVindel,exonic,FRMPD3,NA,synonymous SNV,FRMPD3:NM_032428:exon16:c.G5310A:p.Q1770Q,NA,NA,NA,NA,NA,NA
chrX,107422653,107422653,C,T,P270959_S,COL4A6,Missense_Mutation,NM_001287759,exon26,c.G2147A,p.R716H,SNP,SNVindel,exonic,COL4A6,NA,nonsynonymous SNV,"COL4A6:NM_001287759:exon26:c.G2147A:p.R716H,COL4A6:NM_001287760:exon26:c.G2147A:p.R716H,COL4A6:NM_001847:exon26:c.G2150A:p.R717H,COL4A6:NM_033641:exon26:c.G2147A:p.R716H,COL4A6:NM_001287758:exon27:c.G2198A:p.R733H",D,N,D,D,D,D
chrX,107977304,107977304,A,G,P270959_S,IRS4,Silent,NM_003604,exon1,c.T2271C,p.S757S,SNP,SNVindel,exonic,IRS4,NA,synonymous SNV,IRS4:NM_003604:exon1:c.T2271C:p.S757S,NA,NA,NA,NA,NA,NA
chrX,107977339,107977339,T,C,P270959_S,IRS4,Missense_Mutation,NM_003604,exon1,c.A2236G,p.M746V,SNP,SNVindel,exonic,IRS4,NA,nonsynonymous SNV,IRS4:NM_003604:exon1:c.A2236G:p.M746V,D,D,D,T,N,T
chrX,117959892,117959892,C,T,P270959_S,ZCCHC12,Missense_Mutation,NM_001312891,exon3,c.C685T,p.R229W,SNP,SNVindel,exonic,ZCCHC12,NA,nonsynonymous SNV,"ZCCHC12:NM_001312891:exon3:c.C685T:p.R229W,ZCCHC12:NM_173798:exon4:c.C685T:p.R229W",T,.,N,T,N,T
chrX,119054483,119054483,T,C,P270959_S,AKAP14,Silent,NM_001008534,exon6,c.T327C,p.V109V,SNP,SNVindel,exonic,AKAP14,NA,synonymous SNV,"AKAP14:NM_001008534:exon6:c.T327C:p.V109V,AKAP14:NM_178813:exon7:c.T507C:p.V169V",NA,NA,NA,NA,NA,NA
chrX,119388377,119388377,A,G,P270959_S,ZBTB33,Silent,NM_006777,exon2,c.A1107G,p.G369G,SNP,SNVindel,exonic,ZBTB33,NA,synonymous SNV,"ZBTB33:NM_006777:exon2:c.A1107G:p.G369G,ZBTB33:NM_001184742:exon3:c.A1107G:p.G369G",NA,NA,NA,NA,NA,NA
chrX,123514499,123514499,G,A,P270959_S,TENM1,Missense_Mutation,NM_014253,exon31,c.C8065T,p.R2689W,SNP,SNVindel,exonic,TENM1,NA,nonsynonymous SNV,"TENM1:NM_014253:exon31:c.C8065T:p.R2689W,TENM1:NM_001163278:exon32:c.C8086T:p.R2696W,TENM1:NM_001163279:exon32:c.C8083T:p.R2695W",D,D,D,D,D,D
chrX,125685427,125685427,C,T,P270959_S,DCAF12L1,Missense_Mutation,NM_178470,exon1,c.G1165A,p.A389T,SNP,SNVindel,exonic,DCAF12L1,NA,nonsynonymous SNV,DCAF12L1:NM_178470:exon1:c.G1165A:p.A389T,T,N,N,T,N,T
chrX,129150016,129150016,C,T,P270959_S,BCORL1,Nonsense_Mutation,NM_001184772,exon3,c.C3268T,p.R1090X,SNP,SNVindel,exonic,BCORL1,NA,stopgain,"BCORL1:NM_001184772:exon3:c.C3268T:p.R1090X,BCORL1:NM_021946:exon3:c.C3268T:p.R1090X",.,N,A,.,.,.
chrX,129518492,129518492,G,A,P270959_S,GPR119,Silent,NM_178471,exon1,c.C930T,p.A310A,SNP,SNVindel,exonic,GPR119,NA,synonymous SNV,GPR119:NM_178471:exon1:c.C930T:p.A310A,NA,NA,NA,NA,NA,NA
chrX,132160384,132160384,C,T,P270959_S,USP26,Missense_Mutation,NM_031907,exon1,c.G1865A,p.R622K,SNP,SNVindel,exonic,USP26,NA,nonsynonymous SNV,USP26:NM_031907:exon1:c.G1865A:p.R622K,T,N,N,T,N,T
chrX,134185955,134185955,C,T,P270959_S,RTL8A,Missense_Mutation,NM_001078172,exon1,c.G184A,p.A62T,SNP,SNVindel,exonic,RTL8A,NA,nonsynonymous SNV,"RTL8A:NM_001078172:exon1:c.G184A:p.A62T,RTL8A:NM_001134321:exon1:c.G184A:p.A62T",T,N,N,T,N,T
chrX,138643824,138643824,T,A,P270959_S,F9,Missense_Mutation,NM_001313913,exon7,c.T866A,p.L289Q,SNP,SNVindel,exonic,F9,NA,nonsynonymous SNV,"F9:NM_001313913:exon7:c.T866A:p.L289Q,F9:NM_000133:exon8:c.T980A:p.L327Q",D,D,N,D,D,D
chrX,144905207,144905207,C,A,P270959_S,SLITRK2,Missense_Mutation,NM_001144009,exon2,c.C1264A,p.L422M,SNP,SNVindel,exonic,SLITRK2,NA,nonsynonymous SNV,"SLITRK2:NM_001144009:exon2:c.C1264A:p.L422M,SLITRK2:NM_001144006:exon3:c.C1264A:p.L422M,SLITRK2:NM_001144008:exon3:c.C1264A:p.L422M,SLITRK2:NM_001144010:exon3:c.C1264A:p.L422M,SLITRK2:NM_001144003:exon5:c.C1264A:p.L422M,SLITRK2:NM_001144004:exon5:c.C1264A:p.L422M,SLITRK2:NM_001144005:exon5:c.C1264A:p.L422M,SLITRK2:NM_032539:exon5:c.C1264A:p.L422M",D,D,D,T,N,T
chrX,147062971,147062971,C,T,P270959_S,FMR1NB,Missense_Mutation,NM_152578,exon1,c.C49T,p.R17C,SNP,SNVindel,exonic,FMR1NB,NA,nonsynonymous SNV,FMR1NB:NM_152578:exon1:c.C49T:p.R17C,D,.,N,T,D,T
chrX,148797557,148797557,T,C,P270959_S,MAGEA11,Silent,NM_001011544,exon5,c.T324C,p.G108G,SNP,SNVindel,exonic,MAGEA11,NA,synonymous SNV,"MAGEA11:NM_001011544:exon5:c.T324C:p.G108G,MAGEA11:NM_005366:exon5:c.T411C:p.G137G",NA,NA,NA,NA,NA,NA
chrX,152686628,152686628,G,A,P270959_S,ZFP92,Missense_Mutation,NM_001136273,exon4,c.G793A,p.A265T,SNP,SNVindel,exonic,ZFP92,NA,nonsynonymous SNV,ZFP92:NM_001136273:exon4:c.G793A:p.A265T,.,.,N,T,.,.
chrX,152807273,152807273,C,A,P270959_S,ATP2B3,Missense_Mutation,NM_001001344,exon3,c.C553A,p.L185M,SNP,SNVindel,exonic,ATP2B3,NA,nonsynonymous SNV,"ATP2B3:NM_001001344:exon3:c.C553A:p.L185M,ATP2B3:NM_021949:exon3:c.C553A:p.L185M",D,N,D,D,N,D
chrX,153041490,153041490,C,T,P270959_S,PLXNB3,Missense_Mutation,NM_005393,exon27,c.C4550T,p.T1517M,SNP,SNVindel,exonic,PLXNB3,NA,nonsynonymous SNV,"PLXNB3:NM_005393:exon27:c.C4550T:p.T1517M,PLXNB3:NM_001163257:exon28:c.C4619T:p.T1540M",D,N,D,T,D,T
chrX,153284224,153284224,G,T,P270959_S,IRAK1,Missense_Mutation,NM_001025242,exon5,c.C555A,p.S185R,SNP,SNVindel,exonic,IRAK1,NA,nonsynonymous SNV,"IRAK1:NM_001025242:exon5:c.C555A:p.S185R,IRAK1:NM_001025243:exon5:c.C555A:p.S185R,IRAK1:NM_001569:exon5:c.C555A:p.S185R",D,N,N,T,N,T
chrX,153760934,153760934,C,T,P270959_S,G6PD,Missense_Mutation,NM_000402,exon10,c.G1225A,p.D409N,SNP,SNVindel,exonic,G6PD,NA,nonsynonymous SNV,"G6PD:NM_000402:exon10:c.G1225A:p.D409N,G6PD:NM_001042351:exon10:c.G1135A:p.D379N,G6PD:NM_001360016:exon10:c.G1135A:p.D379N",T,D,D,D,D,D
chrX,153881648,153881648,C,T,P270959_S,CTAG2,Missense_Mutation,NM_020994,exon1,c.G142A,p.A48T,SNP,SNVindel,exonic,CTAG2,NA,nonsynonymous SNV,"CTAG2:NM_020994:exon1:c.G142A:p.A48T,CTAG2:NM_172377:exon1:c.G142A:p.A48T",D,.,N,T,N,T
chrX,154020455,154020455,G,A,P270959_S,MPP1,Nonsense_Mutation,NM_001166461,exon2,c.C208T,p.R70X,SNP,SNVindel,exonic,MPP1,NA,stopgain,"MPP1:NM_001166461:exon2:c.C208T:p.R70X,MPP1:NM_002436:exon2:c.C208T:p.R70X,MPP1:NM_001166462:exon3:c.C118T:p.R40X",.,D,A,.,.,.
chr1,16902931,16902931,C,G,P277337_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,19612722,19612722,G,A,P277337_F,AKR7A3,Missense_Mutation,NM_012067,exon2,c.C359T,p.P120L,SNP,SNVindel,exonic,AKR7A3,NA,nonsynonymous SNV,AKR7A3:NM_012067:exon2:c.C359T:p.P120L,D,D,D,T,D,T
chr1,32741615,32741615,C,T,P277337_F,LCK,Silent,NM_001042771,exon7,c.C582T,p.S194S,SNP,SNVindel,exonic,LCK,NA,synonymous SNV,"LCK:NM_001042771:exon7:c.C582T:p.S194S,LCK:NM_001330468:exon7:c.C582T:p.S194S,LCK:NM_005356:exon7:c.C582T:p.S194S",NA,NA,NA,NA,NA,NA
chr1,86904716,86904716,T,C,P277337_F,CLCA2,Missense_Mutation,NM_006536,exon7,c.T1130C,p.V377A,SNP,SNVindel,exonic,CLCA2,NA,nonsynonymous SNV,CLCA2:NM_006536:exon7:c.T1130C:p.V377A,T,N,N,T,N,T
chr1,158735892,158735892,A,G,P277337_F,OR6N1,Missense_Mutation,NM_001005185,exon1,c.T581C,p.I194T,SNP,SNVindel,exonic,OR6N1,NA,nonsynonymous SNV,OR6N1:NM_001005185:exon1:c.T581C:p.I194T,T,N,P,T,N,T
chr1,167096614,167096614,C,T,P277337_F,DUSP27,Missense_Mutation,NM_001080426,exon6,c.C2246T,p.P749L,SNP,SNVindel,exonic,DUSP27,NA,nonsynonymous SNV,DUSP27:NM_001080426:exon6:c.C2246T:p.P749L,T,N,N,T,N,T
chr1,233091418,233091418,C,T,P277337_F,NTPCR,Silent,NM_001329452,exon2,c.C150T,p.F50F,SNP,SNVindel,exonic,NTPCR,NA,synonymous SNV,"NTPCR:NM_001329452:exon2:c.C150T:p.F50F,NTPCR:NM_001329453:exon2:c.C150T:p.F50F,NTPCR:NM_032324:exon2:c.C150T:p.F50F",NA,NA,NA,NA,NA,NA
chr1,245849176,245849176,G,A,P277337_F,KIF26B,Missense_Mutation,NM_018012,exon12,c.G2891A,p.R964Q,SNP,SNVindel,exonic,KIF26B,NA,nonsynonymous SNV,KIF26B:NM_018012:exon12:c.G2891A:p.R964Q,T,.,N,T,N,T
chr1,247836121,247836121,T,G,P277337_F,OR13G1,Missense_Mutation,NM_001005487,exon1,c.A223C,p.I75L,SNP,SNVindel,exonic,OR13G1,NA,nonsynonymous SNV,OR13G1:NM_001005487:exon1:c.A223C:p.I75L,T,N,N,T,N,T
chr2,36704181,36704181,G,A,P277337_F,CRIM1,Missense_Mutation,NM_016441,exon6,c.G1141A,p.V381M,SNP,SNVindel,exonic,CRIM1,NA,nonsynonymous SNV,CRIM1:NM_016441:exon6:c.G1141A:p.V381M,T,N,D,T,N,T
chr2,45640334,45640334,T,C,P277337_F,SRBD1,Missense_Mutation,NM_018079,exon19,c.A2432G,p.K811R,SNP,SNVindel,exonic,SRBD1,NA,nonsynonymous SNV,SRBD1:NM_018079:exon19:c.A2432G:p.K811R,D,D,P,T,N,T
chr2,209025579,209025579,C,T,P277337_F,CRYGA,Silent,NM_014617,exon3,c.G474A,p.G158G,SNP,SNVindel,exonic,CRYGA,NA,synonymous SNV,CRYGA:NM_014617:exon3:c.G474A:p.G158G,NA,NA,NA,NA,NA,NA
chr2,209113112,209113112,C,T,P277337_F,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,220498006,220498006,G,A,P277337_F,SLC4A3,Missense_Mutation,NM_001326559,exon10,c.G1369A,p.D457N,SNP,SNVindel,exonic,SLC4A3,NA,nonsynonymous SNV,"SLC4A3:NM_001326559:exon10:c.G1369A:p.D457N,SLC4A3:NM_005070:exon10:c.G1288A:p.D430N,SLC4A3:NM_201574:exon10:c.G1369A:p.D457N",D,D,D,T,D,D
chr2,233103337,233103337,C,T,P277337_F,DIS3L2,Silent,NM_001257281,exon11,c.C1299T,p.S433S,SNP,SNVindel,exonic,DIS3L2,NA,synonymous SNV,"DIS3L2:NM_001257281:exon11:c.C1299T:p.S433S,DIS3L2:NM_152383:exon11:c.C1299T:p.S433S",NA,NA,NA,NA,NA,NA
chr3,44308593,44308593,G,A,P277337_F,TOPAZ1,Missense_Mutation,NM_001145030,exon6,c.G3125A,p.R1042H,SNP,SNVindel,exonic,TOPAZ1,NA,nonsynonymous SNV,TOPAZ1:NM_001145030:exon6:c.G3125A:p.R1042H,T,.,N,T,N,T
chr4,69885662,69885662,G,A,P277337_F,UGT2B10,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,UGT2B10,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr4,165962194,165962194,C,T,P277337_F,TRIM60,Nonsense_Mutation,NM_152620,exon3,c.C970T,p.R324X,SNP,SNVindel,exonic,TRIM60,NA,stopgain,"TRIM60:NM_152620:exon3:c.C970T:p.R324X,TRIM60:NM_001258025:exon4:c.C970T:p.R324X",.,U,D,.,.,.
chr5,148388435,148388435,C,T,P277337_F,SH3TC2,Missense_Mutation,NM_024577,exon15,c.G3457A,p.A1153T,SNP,SNVindel,exonic,SH3TC2,NA,nonsynonymous SNV,SH3TC2:NM_024577:exon15:c.G3457A:p.A1153T,T,D,D,T,N,T
chr6,46656943,46656943,C,T,P277337_F,TDRD6,Missense_Mutation,NM_001010870,exon1,c.C1078T,p.R360W,SNP,SNVindel,exonic,TDRD6,NA,nonsynonymous SNV,"TDRD6:NM_001010870:exon1:c.C1078T:p.R360W,TDRD6:NM_001168359:exon1:c.C1078T:p.R360W",D,N,D,T,D,T
chr6,149778021,149778021,G,A,P277337_F,ZC3H12D,Missense_Mutation,NM_207360,exon4,c.C461T,p.A154V,SNP,SNVindel,exonic,ZC3H12D,NA,nonsynonymous SNV,ZC3H12D:NM_207360:exon4:c.C461T:p.A154V,D,N,N,T,N,T
chr6,152652461,152652461,G,A,P277337_F,SYNE1,Silent,NM_033071,exon77,c.C13146T,p.S4382S,SNP,SNVindel,exonic,SYNE1,NA,synonymous SNV,"SYNE1:NM_033071:exon77:c.C13146T:p.S4382S,SYNE1:NM_182961:exon78:c.C13359T:p.S4453S",NA,NA,NA,NA,NA,NA
chr7,2294787,2294787,G,A,P277337_F,SNX8,Silent,NM_013321,exon11,c.C1302T,p.N434N,SNP,SNVindel,exonic,SNX8,NA,synonymous SNV,SNX8:NM_013321:exon11:c.C1302T:p.N434N,NA,NA,NA,NA,NA,NA
chr7,93063574,93063574,G,T,P277337_F,CALCR,Nonsense_Mutation,NM_001164738,exon12,c.C1182A,p.C394X,SNP,SNVindel,exonic,CALCR,NA,stopgain,"CALCR:NM_001164738:exon12:c.C1182A:p.C394X,CALCR:NM_001742:exon13:c.C1182A:p.C394X,CALCR:NM_001164737:exon15:c.C1230A:p.C410X",.,.,D,.,.,.
chr7,142572878,142572878,C,T,P277337_F,TRPV6,Missense_Mutation,NM_018646,exon9,c.G1282A,p.G428R,SNP,SNVindel,exonic,TRPV6,NA,nonsynonymous SNV,TRPV6:NM_018646:exon9:c.G1282A:p.G428R,D,D,D,D,D,D
chr8,94776156,94776156,G,T,P277337_F,TMEM67,Missense_Mutation,NM_153704,exon4,c.G493T,p.A165S,SNP,SNVindel,exonic,TMEM67,NA,nonsynonymous SNV,"TMEM67:NM_153704:exon4:c.G493T:p.A165S,TMEM67:NM_001142301:exon5:c.G250T:p.A84S",T,N,N,D,N,T
chr9,21206569,21206569,C,A,P277337_F,IFNA10,Silent,NM_002171,exon1,c.G528T,p.S176S,SNP,SNVindel,exonic,IFNA10,NA,synonymous SNV,IFNA10:NM_002171:exon1:c.G528T:p.S176S,NA,NA,NA,NA,NA,NA
chr9,136290691,136290691,C,T,P277337_F,ADAMTS13,Missense_Mutation,NM_139025,exon4,c.C373T,p.R125W,SNP,SNVindel,exonic,ADAMTS13,NA,nonsynonymous SNV,"ADAMTS13:NM_139025:exon4:c.C373T:p.R125W,ADAMTS13:NM_139026:exon4:c.C373T:p.R125W,ADAMTS13:NM_139027:exon4:c.C373T:p.R125W",D,.,N,D,D,D
chr9,139401233,139401233,C,T,P277337_F,NOTCH1,Missense_Mutation,NM_017617,exon23,c.G3836A,p.R1279H,SNP,SNVindel,exonic,NOTCH1,NA,nonsynonymous SNV,NOTCH1:NM_017617:exon23:c.G3836A:p.R1279H,T,D,D,T,N,T
chr10,112541496,112541496,G,A,P277337_F,RBM20,Missense_Mutation,NM_001134363,exon2,c.G1129A,p.G377S,SNP,SNVindel,exonic,RBM20,NA,nonsynonymous SNV,RBM20:NM_001134363:exon2:c.G1129A:p.G377S,T,N,N,D,N,T
chr10,125557566,125557566,C,T,P277337_F,CPXM2,Missense_Mutation,NM_198148,exon6,c.G815A,p.R272H,SNP,SNVindel,exonic,CPXM2,NA,nonsynonymous SNV,CPXM2:NM_198148:exon6:c.G815A:p.R272H,D,D,D,D,D,D
chr11,55681456,55681456,G,A,P277337_F,OR5W2,Silent,NM_001001960,exon1,c.C603T,p.T201T,SNP,SNVindel,exonic,OR5W2,NA,synonymous SNV,OR5W2:NM_001001960:exon1:c.C603T:p.T201T,NA,NA,NA,NA,NA,NA
chr11,70002021,70002021,G,A,P277337_F,ANO1,Missense_Mutation,NM_018043,exon15,c.G1430A,p.R477H,SNP,SNVindel,exonic,ANO1,NA,nonsynonymous SNV,ANO1:NM_018043:exon15:c.G1430A:p.R477H,T,N,D,T,N,T
chr11,94278355,94278355,G,T,P277337_F,FUT4,Missense_Mutation,NM_002033,exon1,c.G1056T,p.R352S,SNP,SNVindel,exonic,FUT4,NA,nonsynonymous SNV,FUT4:NM_002033:exon1:c.G1056T:p.R352S,T,U,N,T,N,T
chr12,3600793,3600793,T,C,P277337_F,PRMT8,Translation_Start_Site,NM_019854,exon1,c.T2C,p.M1?,SNP,SNVindel,exonic,PRMT8,NA,startloss,PRMT8:NM_019854:exon1:c.T2C:p.M1?,D,D,D,T,N,T
chr12,27648711,27648711,G,A,P277337_F,SMCO2,Silent,NM_001145010,exon8,c.G756A,p.T252T,SNP,SNVindel,exonic,SMCO2,NA,synonymous SNV,SMCO2:NM_001145010:exon8:c.G756A:p.T252T,NA,NA,NA,NA,NA,NA
chr12,49938140,49938140,C,T,P277337_F,KCNH3,Silent,NM_001314030,exon7,c.C984T,p.S328S,SNP,SNVindel,exonic,KCNH3,NA,synonymous SNV,"KCNH3:NM_001314030:exon7:c.C984T:p.S328S,KCNH3:NM_012284:exon7:c.C1164T:p.S388S",NA,NA,NA,NA,NA,NA
chr12,121442009,121442009,C,T,P277337_F,C12orf43,Missense_Mutation,NM_001286197,exon5,c.G640A,p.E214K,SNP,SNVindel,exonic,C12orf43,NA,nonsynonymous SNV,"C12orf43:NM_001286197:exon5:c.G640A:p.E214K,C12orf43:NM_001286191:exon6:c.G829A:p.E277K,C12orf43:NM_001286192:exon6:c.G739A:p.E247K,C12orf43:NM_001286195:exon6:c.G706A:p.E236K,C12orf43:NM_001286196:exon6:c.G703A:p.E235K,C12orf43:NM_022895:exon6:c.G736A:p.E246K,C12orf43:NM_001286198:exon7:c.G613A:p.E205K",T,N,N,T,N,T
chr13,26788779,26788779,G,A,P277337_F,RNF6,Missense_Mutation,NM_005977,exon5,c.C1240T,p.R414W,SNP,SNVindel,exonic,RNF6,NA,nonsynonymous SNV,"RNF6:NM_005977:exon5:c.C1240T:p.R414W,RNF6:NM_183043:exon5:c.C1240T:p.R414W,RNF6:NM_183044:exon5:c.C1240T:p.R414W",D,D,D,T,D,T
chr14,20249285,20249285,C,G,P277337_F,OR4M1,Silent,NM_001005500,exon1,c.C804G,p.S268S,SNP,SNVindel,exonic,OR4M1,NA,synonymous SNV,OR4M1:NM_001005500:exon1:c.C804G:p.S268S,NA,NA,NA,NA,NA,NA
chr14,23884594,23884594,G,A,P277337_F,MYH7,Missense_Mutation,NM_000257,exon36,c.C5279T,p.T1760M,SNP,SNVindel,exonic,MYH7,NA,nonsynonymous SNV,MYH7:NM_000257:exon36:c.C5279T:p.T1760M,D,.,D,T,D,D
chr15,44961571,44961571,T,C,P277337_F,PATL2,Missense_Mutation,NM_001330283,exon10,c.A404G,p.Y135C,SNP,SNVindel,exonic,PATL2,NA,nonsynonymous SNV,"PATL2:NM_001330283:exon10:c.A404G:p.Y135C,PATL2:NM_001145112:exon11:c.A971G:p.Y324C",T,.,N,T,N,T
chr15,48902987,48902987,G,A,P277337_F,FBN1,Missense_Mutation,NM_000138,exon4,c.C284T,p.S95L,SNP,SNVindel,exonic,FBN1,NA,nonsynonymous SNV,FBN1:NM_000138:exon4:c.C284T:p.S95L,T,D,D,D,N,D
chr15,75499747,75499747,G,A,P277337_F,C15orf39,Missense_Mutation,NM_015492,exon2,c.G1358A,p.R453Q,SNP,SNVindel,exonic,C15orf39,NA,nonsynonymous SNV,C15orf39:NM_015492:exon2:c.G1358A:p.R453Q,T,N,N,T,N,T
chr15,83218285,83218285,C,T,P277337_F,CPEB1,Missense_Mutation,NM_001079535,exon7,c.G1099A,p.A367T,SNP,SNVindel,exonic,CPEB1,NA,nonsynonymous SNV,"CPEB1:NM_001079535:exon7:c.G1099A:p.A367T,CPEB1:NM_001288820:exon7:c.G646A:p.A216T,CPEB1:NM_001079533:exon8:c.G1114A:p.A372T,CPEB1:NM_001079534:exon8:c.G1099A:p.A367T,CPEB1:NM_001365248:exon8:c.G1099A:p.A367T,CPEB1:NM_001365249:exon8:c.G1099A:p.A367T,CPEB1:NM_001365250:exon8:c.G1114A:p.A372T,CPEB1:NM_001288819:exon9:c.G1099A:p.A367T,CPEB1:NM_001365243:exon9:c.G1339A:p.A447T,CPEB1:NM_001365244:exon9:c.G1099A:p.A367T,CPEB1:NM_001365245:exon9:c.G1099A:p.A367T,CPEB1:NM_001365246:exon9:c.G1099A:p.A367T,CPEB1:NM_001365247:exon9:c.G1099A:p.A367T,CPEB1:NM_030594:exon9:c.G1324A:p.A442T,CPEB1:NM_001365240:exon10:c.G1405A:p.A469T,CPEB1:NM_001365241:exon10:c.G1405A:p.A469T,CPEB1:NM_001365242:exon10:c.G1405A:p.A469T",.,U,D,.,.,T
chr15,90335522,90335522,G,A,P277337_F,ANPEP,Silent,NM_001150,exon18,c.C2397T,p.N799N,SNP,SNVindel,exonic,ANPEP,NA,synonymous SNV,ANPEP:NM_001150:exon18:c.C2397T:p.N799N,NA,NA,NA,NA,NA,NA
chr15,101109856,101109856,G,A,P277337_F,LINS1,Missense_Mutation,NM_001040616,exon7,c.C1861T,p.R621W,SNP,SNVindel,exonic,LINS1,NA,nonsynonymous SNV,"LINS1:NM_001040616:exon7:c.C1861T:p.R621W,LINS1:NM_001352508:exon7:c.C1708T:p.R570W,LINS1:NM_001352507:exon8:c.C1114T:p.R372W",D,N,N,T,N,T
chr16,81390480,81390480,C,T,P277337_F,GAN,Nonsense_Mutation,NM_022041,exon4,c.C724T,p.R242X,SNP,SNVindel,exonic,GAN,NA,stopgain,GAN:NM_022041:exon4:c.C724T:p.R242X,.,D,A,.,.,.
chr17,7579312,7579312,C,T,P277337_F,TP53,Silent,NM_001126118,exon3,c.G258A,p.T86T,SNP,SNVindel,exonic,TP53,NA,synonymous SNV,"TP53:NM_001126118:exon3:c.G258A:p.T86T,TP53:NM_000546:exon4:c.G375A:p.T125T,TP53:NM_001126112:exon4:c.G375A:p.T125T,TP53:NM_001126113:exon4:c.G375A:p.T125T,TP53:NM_001126114:exon4:c.G375A:p.T125T,TP53:NM_001276695:exon4:c.G258A:p.T86T,TP53:NM_001276696:exon4:c.G258A:p.T86T,TP53:NM_001276760:exon4:c.G258A:p.T86T,TP53:NM_001276761:exon4:c.G258A:p.T86T",NA,NA,NA,NA,NA,NA
chr17,16593836,16593836,C,T,P277337_F,CCDC144A,Missense_Mutation,NM_014695,exon1,c.C122T,p.P41L,SNP,SNVindel,exonic,CCDC144A,NA,nonsynonymous SNV,CCDC144A:NM_014695:exon1:c.C122T:p.P41L,T,.,N,T,N,T
chr17,40818168,40818168,G,A,P277337_F,TUBG2,Missense_Mutation,NM_016437,exon9,c.G907A,p.V303M,SNP,SNVindel,exonic,TUBG2,NA,nonsynonymous SNV,"TUBG2:NM_016437:exon9:c.G907A:p.V303M,TUBG2:NM_001320509:exon10:c.G934A:p.V312M",T,D,D,T,N,T
chr18,12699056,12699056,G,A,P277337_F,CEP76,Missense_Mutation,NM_024899,exon4,c.C442T,p.R148C,SNP,SNVindel,exonic,CEP76,NA,nonsynonymous SNV,CEP76:NM_024899:exon4:c.C442T:p.R148C,D,D,D,T,D,D
chr18,44146330,44146330,C,T,P277337_F,LOXHD1,Missense_Mutation,NM_144612,exon17,c.G2327A,p.R776H,SNP,SNVindel,exonic,LOXHD1,NA,nonsynonymous SNV,LOXHD1:NM_144612:exon17:c.G2327A:p.R776H,T,N,N,T,N,T
chr19,3731940,3731940,C,T,P277337_F,TJP3,Silent,NM_001267560,exon6,c.C621T,p.G207G,SNP,SNVindel,exonic,TJP3,NA,synonymous SNV,"TJP3:NM_001267560:exon6:c.C621T:p.G207G,TJP3:NM_001267561:exon6:c.C648T:p.G216G",NA,NA,NA,NA,NA,NA
chr19,8056649,8056649,G,A,P277337_F,ELAVL1,Silent,NM_001419,exon2,c.C51T,p.I17I,SNP,SNVindel,exonic,ELAVL1,NA,synonymous SNV,ELAVL1:NM_001419:exon2:c.C51T:p.I17I,NA,NA,NA,NA,NA,NA
chr19,13988235,13988235,C,T,P277337_F,NANOS3,Missense_Mutation,NM_001098622,exon1,c.C173T,p.P58L,SNP,SNVindel,exonic,NANOS3,NA,nonsynonymous SNV,NANOS3:NM_001098622:exon1:c.C173T:p.P58L,T,U,D,T,N,T
chr19,45992160,45992160,C,T,P277337_F,RTN2,Silent,NM_206901,exon3,c.G306A,p.A102A,SNP,SNVindel,exonic,RTN2,NA,synonymous SNV,"RTN2:NM_206901:exon3:c.G306A:p.A102A,RTN2:NM_206900:exon6:c.G1107A:p.A369A,RTN2:NM_005619:exon7:c.G1326A:p.A442A",NA,NA,NA,NA,NA,NA
chr20,16359525,16359525,C,T,P277337_F,KIF16B,Missense_Mutation,NM_001199865,exon19,c.G3122A,p.S1041N,SNP,SNVindel,exonic,KIF16B,NA,nonsynonymous SNV,"KIF16B:NM_001199865:exon19:c.G3122A:p.S1041N,KIF16B:NM_001199866:exon19:c.G3122A:p.S1041N,KIF16B:NM_024704:exon19:c.G3122A:p.S1041N",T,N,N,T,N,T
chr20,44599913,44599913,G,A,P277337_F,ZNF335,Missense_Mutation,NM_022095,exon2,c.C137T,p.P46L,SNP,SNVindel,exonic,ZNF335,NA,nonsynonymous SNV,ZNF335:NM_022095:exon2:c.C137T:p.P46L,D,D,D,T,N,T
chr20,44685863,44685863,C,T,P277337_F,SLC12A5,Silent,NM_001134771,exon25,c.C3249T,p.I1083I,SNP,SNVindel,exonic,SLC12A5,NA,synonymous SNV,"SLC12A5:NM_001134771:exon25:c.C3249T:p.I1083I,SLC12A5:NM_020708:exon25:c.C3180T:p.I1060I",NA,NA,NA,NA,NA,NA
chr20,45192095,45192095,G,A,P277337_F,SLC13A3,Silent,NM_001193339,exon11,c.C1440T,p.N480N,SNP,SNVindel,exonic,SLC13A3,NA,synonymous SNV,"SLC13A3:NM_001193339:exon11:c.C1440T:p.N480N,SLC13A3:NM_001193340:exon12:c.C1344T:p.N448N,SLC13A3:NM_001193342:exon12:c.C1296T:p.N432N,SLC13A3:NM_022829:exon12:c.C1590T:p.N530N,SLC13A3:NM_001011554:exon13:c.C1449T:p.N483N",NA,NA,NA,NA,NA,NA
chr20,55906934,55906934,C,T,P277337_F,SPO11,Silent,NM_012444,exon2,c.C177T,p.I59I,SNP,SNVindel,exonic,SPO11,NA,synonymous SNV,SPO11:NM_012444:exon2:c.C177T:p.I59I,NA,NA,NA,NA,NA,NA
chr20,61834850,61834850,C,T,P277337_F,YTHDF1,Missense_Mutation,NM_017798,exon4,c.G442A,p.G148R,SNP,SNVindel,exonic,YTHDF1,NA,nonsynonymous SNV,YTHDF1:NM_017798:exon4:c.G442A:p.G148R,T,D,D,T,N,T
chr21,34911477,34911477,C,T,P277337_F,GART,Missense_Mutation,NM_000819,exon2,c.G145A,p.A49T,SNP,SNVindel,exonic,GART,NA,nonsynonymous SNV,"GART:NM_000819:exon2:c.G145A:p.A49T,GART:NM_001136005:exon2:c.G145A:p.A49T,GART:NM_001136006:exon2:c.G145A:p.A49T,GART:NM_175085:exon2:c.G145A:p.A49T",T,D,D,T,N,T
chr21,43735491,43735491,C,T,P277337_F,TFF3,Silent,NM_003226,exon1,c.G36A,p.T12T,SNP,SNVindel,exonic,TFF3,NA,synonymous SNV,TFF3:NM_003226:exon1:c.G36A:p.T12T,NA,NA,NA,NA,NA,NA
chr22,35729433,35729433,G,A,P277337_F,TOM1,Missense_Mutation,NM_001135730,exon9,c.G835A,p.D279N,SNP,SNVindel,exonic,TOM1,NA,nonsynonymous SNV,"TOM1:NM_001135730:exon9:c.G835A:p.D279N,TOM1:NM_001135729:exon10:c.G871A:p.D291N,TOM1:NM_001135732:exon10:c.G970A:p.D324N,TOM1:NM_005488:exon10:c.G970A:p.D324N",D,N,D,T,D,T
chrX,76778730,76778730,C,T,P277337_F,ATRX,Silent,NM_138270,exon30,c.G6735A,p.K2245K,SNP,SNVindel,exonic,ATRX,NA,synonymous SNV,"ATRX:NM_138270:exon30:c.G6735A:p.K2245K,ATRX:NM_000489:exon31:c.G6849A:p.K2283K",NA,NA,NA,NA,NA,NA
chrX,111914349,111914349,G,A,P277337_F,LHFPL1,Silent,NM_178175,exon2,c.C270T,p.A90A,SNP,SNVindel,exonic,LHFPL1,NA,synonymous SNV,LHFPL1:NM_178175:exon2:c.C270T:p.A90A,NA,NA,NA,NA,NA,NA
chrX,117162412,117162412,A,T,P277337_F,KLHL13,Missense_Mutation,NM_001168301,exon2,c.T25A,p.L9M,SNP,SNVindel,exonic,KLHL13,NA,nonsynonymous SNV,"KLHL13:NM_001168301:exon2:c.T25A:p.L9M,KLHL13:NM_001168302:exon2:c.T25A:p.L9M",T,.,D,T,N,T
chr1,16902931,16902931,C,G,P277337_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,115323112,115323112,C,T,P277337_S,SIKE1,Silent,NM_001102396,exon1,c.G117A,p.R39R,SNP,SNVindel,exonic,SIKE1,NA,synonymous SNV,"SIKE1:NM_001102396:exon1:c.G117A:p.R39R,SIKE1:NM_025073:exon1:c.G117A:p.R39R",NA,NA,NA,NA,NA,NA
chr1,161168404,161168404,C,T,P277337_S,ADAMTS4,Missense_Mutation,NM_001320336,exon1,c.G14A,p.G5D,SNP,SNVindel,exonic,ADAMTS4,NA,nonsynonymous SNV,"ADAMTS4:NM_001320336:exon1:c.G14A:p.G5D,ADAMTS4:NM_005099:exon1:c.G14A:p.G5D",T,N,N,T,N,T
chr1,229462495,229462495,G,A,P277337_S,CCSAP,Missense_Mutation,NM_145257,exon3,c.C626T,p.P209L,SNP,SNVindel,exonic,CCSAP,NA,nonsynonymous SNV,CCSAP:NM_145257:exon3:c.C626T:p.P209L,D,N,N,T,D,T
chr1,230492798,230492798,G,C,P277337_S,PGBD5,Missense_Mutation,NM_001258311,exon2,c.C601G,p.L201V,SNP,SNVindel,exonic,PGBD5,NA,nonsynonymous SNV,PGBD5:NM_001258311:exon2:c.C601G:p.L201V,T,D,N,T,N,T
chr1,230492799,230492799,G,A,P277337_S,PGBD5,Silent,NM_001258311,exon2,c.C600T,p.A200A,SNP,SNVindel,exonic,PGBD5,NA,synonymous SNV,PGBD5:NM_001258311:exon2:c.C600T:p.A200A,NA,NA,NA,NA,NA,NA
chr1,240519199,240519199,A,G,P277337_S,FMN2,Missense_Mutation,NM_020066,exon14,c.A4849G,p.I1617V,SNP,SNVindel,exonic,FMN2,NA,nonsynonymous SNV,"FMN2:NM_020066:exon14:c.A4849G:p.I1617V,FMN2:NM_001305424:exon15:c.A4861G:p.I1621V",T,D,N,T,N,T
chr2,3518607,3518607,G,A,P277337_S,ADI1,Missense_Mutation,NM_001306077,exon1,c.C74T,p.T25I,SNP,SNVindel,exonic,ADI1,NA,nonsynonymous SNV,ADI1:NM_001306077:exon1:c.C74T:p.T25I,T,.,N,.,N,T
chr2,62067193,62067193,C,T,P277337_S,FAM161A,Missense_Mutation,NM_001201543,exon3,c.G946A,p.E316K,SNP,SNVindel,exonic,FAM161A,NA,nonsynonymous SNV,"FAM161A:NM_001201543:exon3:c.G946A:p.E316K,FAM161A:NM_032180:exon3:c.G946A:p.E316K",T,N,N,T,N,T
chr2,159660870,159660870,C,T,P277337_S,DAPL1,Silent,NM_001017920,exon2,c.C135T,p.F45F,SNP,SNVindel,exonic,DAPL1,NA,synonymous SNV,DAPL1:NM_001017920:exon2:c.C135T:p.F45F,NA,NA,NA,NA,NA,NA
chr2,206641143,206641143,G,A,P277337_S,NRP2,Missense_Mutation,NM_018534,exon16,c.G2614A,p.D872N,SNP,SNVindel,exonic,NRP2,NA,nonsynonymous SNV,"NRP2:NM_018534:exon16:c.G2614A:p.D872N,NRP2:NM_201267:exon16:c.G2599A:p.D867N",D,.,D,D,N,D
chr2,209113112,209113112,C,T,P277337_S,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,227661241,227661241,C,T,P277337_S,IRS1,Silent,NM_005544,exon1,c.G2214A,p.V738V,SNP,SNVindel,exonic,IRS1,NA,synonymous SNV,IRS1:NM_005544:exon1:c.G2214A:p.V738V,NA,NA,NA,NA,NA,NA
chr2,233103337,233103337,C,T,P277337_S,DIS3L2,Silent,NM_001257281,exon11,c.C1299T,p.S433S,SNP,SNVindel,exonic,DIS3L2,NA,synonymous SNV,"DIS3L2:NM_001257281:exon11:c.C1299T:p.S433S,DIS3L2:NM_152383:exon11:c.C1299T:p.S433S",NA,NA,NA,NA,NA,NA
chr2,234113148,234113148,G,A,P277337_S,INPP5D,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,INPP5D,NA,unknown,UNKNOWN,T,N,N,D,N,T
chr3,32933249,32933249,C,T,P277337_S,TRIM71,Silent,NM_001039111,exon4,c.C2553T,p.P851P,SNP,SNVindel,exonic,TRIM71,NA,synonymous SNV,TRIM71:NM_001039111:exon4:c.C2553T:p.P851P,NA,NA,NA,NA,NA,NA
chr3,52414088,52414088,C,T,P277337_S,DNAH1,Silent,NM_015512,exon48,c.C7545T,p.Y2515Y,SNP,SNVindel,exonic,DNAH1,NA,synonymous SNV,DNAH1:NM_015512:exon48:c.C7545T:p.Y2515Y,NA,NA,NA,NA,NA,NA
chr3,52727519,52727519,A,G,P277337_S,GNL3,Missense_Mutation,NM_014366,exon12,c.A1283G,p.N428S,SNP,SNVindel,exonic,GNL3,NA,nonsynonymous SNV,"GNL3:NM_014366:exon12:c.A1283G:p.N428S,GNL3:NM_206825:exon12:c.A1247G:p.N416S,GNL3:NM_206826:exon12:c.A1247G:p.N416S",D,D,N,T,N,T
chr3,113672900,113672900,C,T,P277337_S,ZDHHC23,Missense_Mutation,NM_001320466,exon3,c.C515T,p.A172V,SNP,SNVindel,exonic,ZDHHC23,NA,nonsynonymous SNV,"ZDHHC23:NM_001320466:exon3:c.C515T:p.A172V,ZDHHC23:NM_001320467:exon3:c.C515T:p.A172V,ZDHHC23:NM_001320468:exon3:c.C515T:p.A172V,ZDHHC23:NM_001363952:exon3:c.C515T:p.A172V,ZDHHC23:NM_173570:exon3:c.C515T:p.A172V",T,N,D,T,N,T
chr3,183963104,183963104,G,A,P277337_S,ALG3,Missense_Mutation,NM_001006941,exon4,c.C343T,p.R115C,SNP,SNVindel,exonic,ALG3,NA,nonsynonymous SNV,"ALG3:NM_001006941:exon4:c.C343T:p.R115C,ALG3:NM_005787:exon4:c.C487T:p.R163C",D,U,D,D,D,D
chr4,169098923,169098923,G,A,P277337_S,ANXA10,Silent,NM_007193,exon7,c.G513A,p.A171A,SNP,SNVindel,exonic,ANXA10,NA,synonymous SNV,ANXA10:NM_007193:exon7:c.G513A:p.A171A,NA,NA,NA,NA,NA,NA
chr5,5186344,5186344,G,A,P277337_S,ADAMTS16,Missense_Mutation,NM_139056,exon5,c.G943A,p.V315M,SNP,SNVindel,exonic,ADAMTS16,NA,nonsynonymous SNV,ADAMTS16:NM_139056:exon5:c.G943A:p.V315M,D,D,D,T,D,T
chr5,132197395,132197395,C,T,P277337_S,GDF9,Silent,NM_005260,exon2,c.G1251A,p.P417P,SNP,SNVindel,exonic,GDF9,NA,synonymous SNV,"GDF9:NM_005260:exon2:c.G1251A:p.P417P,GDF9:NM_001288824:exon3:c.G987A:p.P329P,GDF9:NM_001288825:exon4:c.G987A:p.P329P,GDF9:NM_001288826:exon4:c.G987A:p.P329P,GDF9:NM_001288827:exon4:c.G987A:p.P329P,GDF9:NM_001288828:exon4:c.G987A:p.P329P",NA,NA,NA,NA,NA,NA
chr5,148388435,148388435,C,T,P277337_S,SH3TC2,Missense_Mutation,NM_024577,exon15,c.G3457A,p.A1153T,SNP,SNVindel,exonic,SH3TC2,NA,nonsynonymous SNV,SH3TC2:NM_024577:exon15:c.G3457A:p.A1153T,T,D,D,T,N,T
chr5,167933777,167933777,T,C,P277337_S,RARS,Silent,NM_002887,exon11,c.T1287C,p.Y429Y,SNP,SNVindel,exonic,RARS,NA,synonymous SNV,RARS:NM_002887:exon11:c.T1287C:p.Y429Y,NA,NA,NA,NA,NA,NA
chr6,26393138,26393138,C,T,P277337_S,BTN2A2,Silent,NM_001197239,exon6,c.C885T,p.V295V,SNP,SNVindel,exonic,BTN2A2,NA,synonymous SNV,"BTN2A2:NM_001197239:exon6:c.C885T:p.V295V,BTN2A2:NM_181531:exon7:c.C1167T:p.V389V,BTN2A2:NM_001197237:exon8:c.C1515T:p.V505V,BTN2A2:NM_006995:exon8:c.C1515T:p.V505V",NA,NA,NA,NA,NA,NA
chr6,41738748,41738748,C,A,P277337_S,FRS3,Missense_Mutation,NM_006653,exon7,c.G1088T,p.G363V,SNP,SNVindel,exonic,FRS3,NA,nonsynonymous SNV,FRS3:NM_006653:exon7:c.G1088T:p.G363V,D,D,N,T,N,T
chr6,152679666,152679666,C,T,P277337_S,SYNE1,Missense_Mutation,NM_033071,exon66,c.G10471A,p.V3491I,SNP,SNVindel,exonic,SYNE1,NA,nonsynonymous SNV,"SYNE1:NM_033071:exon66:c.G10471A:p.V3491I,SYNE1:NM_182961:exon66:c.G10450A:p.V3484I",T,N,D,T,N,T
chr6,168352353,168352353,A,C,P277337_S,AFDN,Missense_Mutation,NM_001207008,exon28,c.A4247C,p.K1416T,SNP,SNVindel,exonic,AFDN,NA,nonsynonymous SNV,"AFDN:NM_001207008:exon28:c.A4247C:p.K1416T,AFDN:NM_001040000:exon29:c.A4298C:p.K1433T,AFDN:NM_001291964:exon29:c.A4175C:p.K1392T,AFDN:NM_001366319:exon29:c.A4298C:p.K1433T,AFDN:NM_001366320:exon29:c.A4298C:p.K1433T,AFDN:NM_001366321:exon29:c.A4277C:p.K1426T",D,D,D,T,N,T
chr7,142641427,142641427,G,A,P277337_S,KEL,Nonsense_Mutation,NM_000420,exon13,c.C1474T,p.R492X,SNP,SNVindel,exonic,KEL,NA,stopgain,KEL:NM_000420:exon13:c.C1474T:p.R492X,.,N,A,.,.,.
chr7,151927025,151927025,A,G,P277337_S,KMT2C,Missense_Mutation,NM_170606,exon18,c.T2959C,p.Y987H,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,D,U,D,D,D,D
chr8,92231140,92231140,T,A,P277337_S,LRRC69,Missense_Mutation,NM_001354470,exon4,c.T488A,p.L163Q,SNP,SNVindel,exonic,LRRC69,NA,nonsynonymous SNV,"LRRC69:NM_001354470:exon4:c.T488A:p.L163Q,LRRC69:NM_001129890:exon8:c.T956A:p.L319Q",T,U,N,T,N,T
chr8,145140031,145140031,C,T,P277337_S,GPAA1,Missense_Mutation,NM_003801,exon9,c.C1250T,p.P417L,SNP,SNVindel,exonic,GPAA1,NA,nonsynonymous SNV,GPAA1:NM_003801:exon9:c.C1250T:p.P417L,T,N,N,.,N,T
chr9,97349643,97349643,G,A,P277337_S,FBP2,Silent,NM_003837,exon2,c.C279T,p.C93C,SNP,SNVindel,exonic,FBP2,NA,synonymous SNV,FBP2:NM_003837:exon2:c.C279T:p.C93C,NA,NA,NA,NA,NA,NA
chr9,114521537,114521537,A,G,P277337_S,SHOC1,Missense_Mutation,NM_001080551,exon1,c.T32C,p.I11T,SNP,SNVindel,exonic,SHOC1,NA,nonsynonymous SNV,SHOC1:NM_001080551:exon1:c.T32C:p.I11T,D,.,N,T,N,T
chr9,139410107,139410107,G,A,P277337_S,NOTCH1,Silent,NM_017617,exon11,c.C1731T,p.Y577Y,SNP,SNVindel,exonic,NOTCH1,NA,synonymous SNV,NOTCH1:NM_017617:exon11:c.C1731T:p.Y577Y,NA,NA,NA,NA,NA,NA
chr10,101567146,101567146,G,A,P277337_S,ABCC2,Silent,NM_000392,exon12,c.G1536A,p.L512L,SNP,SNVindel,exonic,ABCC2,NA,synonymous SNV,ABCC2:NM_000392:exon12:c.G1536A:p.L512L,NA,NA,NA,NA,NA,NA
chr11,10786120,10786120,G,A,P277337_S,CTR9,Missense_Mutation,NM_001346279,exon12,c.G1439A,p.R480H,SNP,SNVindel,exonic,CTR9,NA,nonsynonymous SNV,"CTR9:NM_001346279:exon12:c.G1439A:p.R480H,CTR9:NM_014633:exon12:c.G1439A:p.R480H",T,D,D,T,N,T
chr11,63884829,63884829,C,T,P277337_S,FLRT1,Missense_Mutation,NM_013280,exon2,c.C1090T,p.R364W,SNP,SNVindel,exonic,FLRT1,NA,nonsynonymous SNV,FLRT1:NM_013280:exon2:c.C1090T:p.R364W,D,D,D,T,D,T
chr11,67396504,67396504,G,A,P277337_S,NUDT8,Silent,NM_001243750,exon2,c.C213T,p.C71C,SNP,SNVindel,exonic,NUDT8,NA,synonymous SNV,"NUDT8:NM_001243750:exon2:c.C213T:p.C71C,NUDT8:NM_181843:exon2:c.C213T:p.C71C",NA,NA,NA,NA,NA,NA
chr12,9020541,9020541,G,A,P277337_S,A2ML1,Missense_Mutation,NM_001282424,exon19,c.G2348A,p.R783H,SNP,SNVindel,exonic,A2ML1,NA,nonsynonymous SNV,"A2ML1:NM_001282424:exon19:c.G2348A:p.R783H,A2ML1:NM_144670:exon30:c.G3821A:p.R1274H",T,N,N,T,N,T
chr13,38320186,38320186,G,T,P277337_S,TRPC4,Missense_Mutation,NM_001135955,exon3,c.C785A,p.S262Y,SNP,SNVindel,exonic,TRPC4,NA,nonsynonymous SNV,"TRPC4:NM_001135955:exon3:c.C785A:p.S262Y,TRPC4:NM_001135956:exon3:c.C785A:p.S262Y,TRPC4:NM_001135957:exon3:c.C785A:p.S262Y,TRPC4:NM_003306:exon3:c.C785A:p.S262Y,TRPC4:NM_016179:exon3:c.C785A:p.S262Y",D,D,D,T,D,D
chr13,51825775,51825775,G,A,P277337_S,FAM124A,Missense_Mutation,NM_001242312,exon3,c.G272A,p.R91Q,SNP,SNVindel,exonic,FAM124A,NA,nonsynonymous SNV,"FAM124A:NM_001242312:exon3:c.G272A:p.R91Q,FAM124A:NM_001330522:exon3:c.G272A:p.R91Q,FAM124A:NM_145019:exon4:c.G380A:p.R127Q",T,N,N,T,N,T
chr14,20249285,20249285,C,G,P277337_S,OR4M1,Silent,NM_001005500,exon1,c.C804G,p.S268S,SNP,SNVindel,exonic,OR4M1,NA,synonymous SNV,OR4M1:NM_001005500:exon1:c.C804G:p.S268S,NA,NA,NA,NA,NA,NA
chr14,20295845,20295845,C,T,P277337_S,OR4N2,Missense_Mutation,NM_001004723,exon2,c.C238T,p.R80W,SNP,SNVindel,exonic,OR4N2,NA,nonsynonymous SNV,OR4N2:NM_001004723:exon2:c.C238T:p.R80W,D,N,N,T,D,T
chr14,24601674,24601674,C,T,P277337_S,FITM1,Missense_Mutation,NM_203402,exon2,c.C521T,p.A174V,SNP,SNVindel,exonic,FITM1,NA,nonsynonymous SNV,FITM1:NM_203402:exon2:c.C521T:p.A174V,T,D,D,.,D,T
chr14,61115638,61115638,C,T,P277337_S,SIX1,Silent,NM_005982,exon1,c.G270A,p.A90A,SNP,SNVindel,exonic,SIX1,NA,synonymous SNV,SIX1:NM_005982:exon1:c.G270A:p.A90A,NA,NA,NA,NA,NA,NA
chr15,44961571,44961571,T,C,P277337_S,PATL2,Missense_Mutation,NM_001330283,exon10,c.A404G,p.Y135C,SNP,SNVindel,exonic,PATL2,NA,nonsynonymous SNV,"PATL2:NM_001330283:exon10:c.A404G:p.Y135C,PATL2:NM_001145112:exon11:c.A971G:p.Y324C",T,.,N,T,N,T
chr15,74241902,74241902,T,A,P277337_S,LOXL1,Missense_Mutation,NM_005576,exon6,c.T1705A,p.C569S,SNP,SNVindel,exonic,LOXL1,NA,nonsynonymous SNV,LOXL1:NM_005576:exon6:c.T1705A:p.C569S,D,D,D,T,D,T
chr15,74284547,74284547,C,T,P277337_S,STOML1,Silent,NM_001256672,exon1,c.G18A,p.G6G,SNP,SNVindel,exonic,STOML1,NA,synonymous SNV,"STOML1:NM_001256672:exon1:c.G18A:p.G6G,STOML1:NM_001256673:exon1:c.G18A:p.G6G,STOML1:NM_001256674:exon1:c.G18A:p.G6G,STOML1:NM_001256675:exon1:c.G18A:p.G6G,STOML1:NM_004809:exon1:c.G18A:p.G6G",NA,NA,NA,NA,NA,NA
chr15,83218285,83218285,C,T,P277337_S,CPEB1,Missense_Mutation,NM_001079535,exon7,c.G1099A,p.A367T,SNP,SNVindel,exonic,CPEB1,NA,nonsynonymous SNV,"CPEB1:NM_001079535:exon7:c.G1099A:p.A367T,CPEB1:NM_001288820:exon7:c.G646A:p.A216T,CPEB1:NM_001079533:exon8:c.G1114A:p.A372T,CPEB1:NM_001079534:exon8:c.G1099A:p.A367T,CPEB1:NM_001365248:exon8:c.G1099A:p.A367T,CPEB1:NM_001365249:exon8:c.G1099A:p.A367T,CPEB1:NM_001365250:exon8:c.G1114A:p.A372T,CPEB1:NM_001288819:exon9:c.G1099A:p.A367T,CPEB1:NM_001365243:exon9:c.G1339A:p.A447T,CPEB1:NM_001365244:exon9:c.G1099A:p.A367T,CPEB1:NM_001365245:exon9:c.G1099A:p.A367T,CPEB1:NM_001365246:exon9:c.G1099A:p.A367T,CPEB1:NM_001365247:exon9:c.G1099A:p.A367T,CPEB1:NM_030594:exon9:c.G1324A:p.A442T,CPEB1:NM_001365240:exon10:c.G1405A:p.A469T,CPEB1:NM_001365241:exon10:c.G1405A:p.A469T,CPEB1:NM_001365242:exon10:c.G1405A:p.A469T",.,U,D,.,.,T
chr15,85384127,85384127,G,A,P277337_S,ALPK3,Silent,NM_020778,exon5,c.G2223A,p.T741T,SNP,SNVindel,exonic,ALPK3,NA,synonymous SNV,ALPK3:NM_020778:exon5:c.G2223A:p.T741T,NA,NA,NA,NA,NA,NA
chr16,1412482,1412482,C,T,P277337_S,GNPTG,Missense_Mutation,NM_032520,exon8,c.C556T,p.R186W,SNP,SNVindel,exonic,GNPTG,NA,nonsynonymous SNV,GNPTG:NM_032520:exon8:c.C556T:p.R186W,D,N,N,D,N,T
chr16,3017907,3017907,G,A,P277337_S,KREMEN2,Missense_Mutation,NM_001253725,exon8,c.G1079A,p.G360E,SNP,SNVindel,exonic,KREMEN2,NA,nonsynonymous SNV,"KREMEN2:NM_001253725:exon8:c.G1079A:p.G360E,KREMEN2:NM_024507:exon8:c.G1196A:p.G399E",D,U,D,T,N,T
chr16,30991060,30991060,C,T,P277337_S,SETD1A,Missense_Mutation,NM_014712,exon14,c.C3953T,p.P1318L,SNP,SNVindel,exonic,SETD1A,NA,nonsynonymous SNV,SETD1A:NM_014712:exon14:c.C3953T:p.P1318L,T,N,N,D,N,T
chr16,48174672,48174672,T,C,P277337_S,ABCC12,Missense_Mutation,NM_033226,exon4,c.A583G,p.K195E,SNP,SNVindel,exonic,ABCC12,NA,nonsynonymous SNV,ABCC12:NM_033226:exon4:c.A583G:p.K195E,D,D,D,D,N,D
chr16,48329926,48329926,G,C,P277337_S,LONP2,Missense_Mutation,NM_001300948,exon8,c.G1252C,p.V418L,SNP,SNVindel,exonic,LONP2,NA,nonsynonymous SNV,"LONP2:NM_001300948:exon8:c.G1252C:p.V418L,LONP2:NM_001348078:exon9:c.G1384C:p.V462L,LONP2:NM_031490:exon9:c.G1384C:p.V462L",D,D,D,T,D,T
chr17,7579312,7579312,C,T,P277337_S,TP53,Silent,NM_001126118,exon3,c.G258A,p.T86T,SNP,SNVindel,exonic,TP53,NA,synonymous SNV,"TP53:NM_001126118:exon3:c.G258A:p.T86T,TP53:NM_000546:exon4:c.G375A:p.T125T,TP53:NM_001126112:exon4:c.G375A:p.T125T,TP53:NM_001126113:exon4:c.G375A:p.T125T,TP53:NM_001126114:exon4:c.G375A:p.T125T,TP53:NM_001276695:exon4:c.G258A:p.T86T,TP53:NM_001276696:exon4:c.G258A:p.T86T,TP53:NM_001276760:exon4:c.G258A:p.T86T,TP53:NM_001276761:exon4:c.G258A:p.T86T",NA,NA,NA,NA,NA,NA
chr17,34072315,34072315,G,A,P277337_S,GAS2L2,Missense_Mutation,NM_139285,exon6,c.C2201T,p.A734V,SNP,SNVindel,exonic,GAS2L2,NA,nonsynonymous SNV,GAS2L2:NM_139285:exon6:c.C2201T:p.A734V,.,N,N,T,.,T
chr17,34097246,34097246,G,A,P277337_S,MMP28,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MMP28,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,71434257,71434257,G,A,P277337_S,SDK2,Silent,NM_001144952,exon7,c.C762T,p.D254D,SNP,SNVindel,exonic,SDK2,NA,synonymous SNV,SDK2:NM_001144952:exon7:c.C762T:p.D254D,NA,NA,NA,NA,NA,NA
chr18,66344197,66344197,C,G,P277337_S,TMX3,Missense_Mutation,NM_001350516,exon14,c.G915C,p.K305N,SNP,SNVindel,exonic,TMX3,NA,nonsynonymous SNV,"TMX3:NM_001350516:exon14:c.G915C:p.K305N,TMX3:NM_001350514:exon15:c.G1257C:p.K419N,TMX3:NM_001350515:exon15:c.G915C:p.K305N,TMX3:NM_019022:exon16:c.G1338C:p.K446N,TMX3:NM_001350517:exon17:c.G915C:p.K305N",D,D,D,T,N,T
chr19,7685309,7685309,C,T,P277337_S,XAB2,Silent,NM_020196,exon16,c.G2118A,p.T706T,SNP,SNVindel,exonic,XAB2,NA,synonymous SNV,XAB2:NM_020196:exon16:c.G2118A:p.T706T,NA,NA,NA,NA,NA,NA
chr19,11547255,11547255,G,A,P277337_S,PRKCSH,Missense_Mutation,NM_001289102,exon2,c.G125A,p.G42D,SNP,SNVindel,exonic,PRKCSH,NA,nonsynonymous SNV,"PRKCSH:NM_001289102:exon2:c.G125A:p.G42D,PRKCSH:NM_001001329:exon3:c.G125A:p.G42D,PRKCSH:NM_001289103:exon3:c.G125A:p.G42D,PRKCSH:NM_001289104:exon3:c.G125A:p.G42D,PRKCSH:NM_002743:exon3:c.G125A:p.G42D",.,D,D,D,.,D
chr19,35760526,35760526,T,G,P277337_S,USF2,Missense_Mutation,NM_001321150,exon3,c.T152G,p.I51S,SNP,SNVindel,exonic,USF2,NA,nonsynonymous SNV,"USF2:NM_001321150:exon3:c.T152G:p.I51S,USF2:NM_003367:exon3:c.T152G:p.I51S,USF2:NM_207291:exon3:c.T152G:p.I51S",D,U,D,D,D,D
chr19,39361577,39361577,C,T,P277337_S,RINL,Silent,NM_001195833,exon8,c.G657A,p.P219P,SNP,SNVindel,exonic,RINL,NA,synonymous SNV,"RINL:NM_001195833:exon8:c.G657A:p.P219P,RINL:NM_198445:exon8:c.G315A:p.P105P",NA,NA,NA,NA,NA,NA
chr19,54647982,54647982,G,A,P277337_S,CNOT3,Missense_Mutation,NM_014516,exon7,c.G397A,p.D133N,SNP,SNVindel,exonic,CNOT3,NA,nonsynonymous SNV,CNOT3:NM_014516:exon7:c.G397A:p.D133N,D,D,D,T,D,T
chr19,56126727,56126727,C,T,P277337_S,ZNF865,Silent,NM_001195605,exon1,c.C1743T,p.P581P,SNP,SNVindel,exonic,ZNF865,NA,synonymous SNV,ZNF865:NM_001195605:exon1:c.C1743T:p.P581P,NA,NA,NA,NA,NA,NA
chr20,55906934,55906934,C,T,P277337_S,SPO11,Silent,NM_012444,exon2,c.C177T,p.I59I,SNP,SNVindel,exonic,SPO11,NA,synonymous SNV,SPO11:NM_012444:exon2:c.C177T:p.I59I,NA,NA,NA,NA,NA,NA
chr21,34166661,34166661,G,A,P277337_S,C21orf62,Silent,NM_001162496,exon2,c.C72T,p.T24T,SNP,SNVindel,exonic,C21orf62,NA,synonymous SNV,"C21orf62:NM_001162496:exon2:c.C72T:p.T24T,C21orf62:NM_019596:exon3:c.C72T:p.T24T,C21orf62:NM_001162495:exon4:c.C72T:p.T24T",NA,NA,NA,NA,NA,NA
chr21,44840920,44840920,G,A,P277337_S,SIK1,Missense_Mutation,NM_001320643,exon7,c.C718T,p.R240C,SNP,SNVindel,exonic,SIK1;SIK1B,NA,nonsynonymous SNV,"SIK1B:NM_001320643:exon7:c.C718T:p.R240C,SIK1:NM_173354:exon7:c.C718T:p.R240C",.,.,.,.,.,.
chr22,17584417,17584417,G,A,P277337_S,IL17RA,Missense_Mutation,NM_001289905,exon8,c.G796A,p.V266I,SNP,SNVindel,exonic,IL17RA,NA,nonsynonymous SNV,"IL17RA:NM_001289905:exon8:c.G796A:p.V266I,IL17RA:NM_014339:exon8:c.G796A:p.V266I",T,N,N,T,N,T
chr22,17600401,17600401,G,A,P277337_S,TMEM121B,Silent,NM_031890,exon1,c.C1617T,p.S539S,SNP,SNVindel,exonic,TMEM121B,NA,synonymous SNV,"TMEM121B:NM_031890:exon1:c.C1617T:p.S539S,TMEM121B:NM_001163079:exon2:c.C552T:p.S184S",NA,NA,NA,NA,NA,NA
chr22,21157531,21157531,G,T,P277337_S,PI4KA,Silent,NM_001362863,exon12,c.C1473A,p.I491I,SNP,SNVindel,exonic,PI4KA,NA,synonymous SNV,"PI4KA:NM_001362863:exon12:c.C1473A:p.I491I,PI4KA:NM_001362862:exon13:c.C1539A:p.I513I,PI4KA:NM_058004:exon13:c.C1539A:p.I513I",NA,NA,NA,NA,NA,NA
chr22,37328832,37328832,C,T,P277337_S,CSF2RB,Silent,NM_000395,exon9,c.C1038T,p.N346N,SNP,SNVindel,exonic,CSF2RB,NA,synonymous SNV,CSF2RB:NM_000395:exon9:c.C1038T:p.N346N,NA,NA,NA,NA,NA,NA
chr22,50876706,50876706,C,T,P277337_S,PPP6R2,Missense_Mutation,NM_001242899,exon17,c.C1865T,p.A622V,SNP,SNVindel,exonic,PPP6R2,NA,nonsynonymous SNV,"PPP6R2:NM_001242899:exon17:c.C1865T:p.A622V,PPP6R2:NM_001242900:exon17:c.C1862T:p.A621V,PPP6R2:NM_001351644:exon17:c.C1862T:p.A621V,PPP6R2:NM_001351646:exon17:c.C1859T:p.A620V,PPP6R2:NM_001351648:exon17:c.C1376T:p.A459V,PPP6R2:NM_014678:exon17:c.C1862T:p.A621V,PPP6R2:NM_001242898:exon18:c.C1943T:p.A648V,PPP6R2:NM_001351641:exon18:c.C1946T:p.A649V,PPP6R2:NM_001351642:exon18:c.C1943T:p.A648V,PPP6R2:NM_001351645:exon18:c.C1862T:p.A621V,PPP6R2:NM_001351647:exon18:c.C1457T:p.A486V,PPP6R2:NM_001351643:exon19:c.C1943T:p.A648V,PPP6R2:NM_001365836:exon20:c.C1943T:p.A648V",T,N,D,T,N,T
chrX,70389469,70389469,A,T,P277337_S,NLGN3,Missense_Mutation,NM_001166660,exon6,c.A1949T,p.D650V,SNP,SNVindel,exonic,NLGN3,NA,nonsynonymous SNV,"NLGN3:NM_001166660:exon6:c.A1949T:p.D650V,NLGN3:NM_001321276:exon7:c.A1658T:p.D553V,NLGN3:NM_018977:exon7:c.A2009T:p.D670V,NLGN3:NM_181303:exon8:c.A2069T:p.D690V",T,N,D,T,N,T
chrX,76778730,76778730,C,T,P277337_S,ATRX,Silent,NM_138270,exon30,c.G6735A,p.K2245K,SNP,SNVindel,exonic,ATRX,NA,synonymous SNV,"ATRX:NM_138270:exon30:c.G6735A:p.K2245K,ATRX:NM_000489:exon31:c.G6849A:p.K2283K",NA,NA,NA,NA,NA,NA
chrX,152937379,152937379,C,T,P277337_S,PNCK,Missense_Mutation,NM_001039582,exon5,c.G619A,p.V207I,SNP,SNVindel,exonic,PNCK,NA,nonsynonymous SNV,"PNCK:NM_001039582:exon5:c.G619A:p.V207I,PNCK:NM_001135740:exon5:c.G421A:p.V141I,PNCK:NM_001366976:exon5:c.G370A:p.V124I,PNCK:NM_001366977:exon5:c.G370A:p.V124I,PNCK:NM_001366978:exon5:c.G370A:p.V124I,PNCK:NM_001366979:exon5:c.G370A:p.V124I,PNCK:NM_001366980:exon5:c.G370A:p.V124I,PNCK:NM_001366975:exon6:c.G370A:p.V124I",T,D,D,T,N,T
chr1,16891333,16891333,C,T,P286189_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,145323690,145323690,A,G,P286189_F,NBPF10,Missense_Mutation,NM_001039703,exon29,c.A3752G,p.D1251G,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon29:c.A3752G:p.D1251G,NBPF10:NM_001302371:exon29:c.A3752G:p.D1251G",.,.,.,.,.,.
chr1,182025753,182025753,G,A,P286189_F,ZNF648,Missense_Mutation,NM_001009992,exon2,c.C1393T,p.R465C,SNP,SNVindel,exonic,ZNF648,NA,nonsynonymous SNV,ZNF648:NM_001009992:exon2:c.C1393T:p.R465C,D,.,D,T,D,T
chr2,130902399,130902399,T,C,P286189_F,CCDC74B,Silent,NM_001258307,exon1,c.A171G,p.L57L,SNP,SNVindel,exonic,CCDC74B,NA,synonymous SNV,"CCDC74B:NM_001258307:exon1:c.A171G:p.L57L,CCDC74B:NM_207310:exon1:c.A171G:p.L57L",NA,NA,NA,NA,NA,NA
chr2,240946766,240946766,T,C,P286189_F,NDUFA10,Silent,NM_001322019,exon7,c.A771G,p.Q257Q,SNP,SNVindel,exonic,NDUFA10,NA,synonymous SNV,"NDUFA10:NM_001322019:exon7:c.A771G:p.Q257Q,NDUFA10:NM_001322020:exon7:c.A771G:p.Q257Q,NDUFA10:NM_004544:exon7:c.A771G:p.Q257Q",D,.,P,D,N,T
chr4,9212403,9212403,C,G,P286189_F,USP17L10,Nonsense_Mutation,NM_001256852,exon1,c.C21G,p.Y7X,SNP,SNVindel,exonic,USP17L10,NA,stopgain,USP17L10:NM_001256852:exon1:c.C21G:p.Y7X,.,.,A,.,.,.
chr6,41617444,41617444,C,T,P286189_F,MDFI,Missense_Mutation,NM_001300805,exon3,c.C164T,p.A55V,SNP,SNVindel,exonic,MDFI,NA,nonsynonymous SNV,"MDFI:NM_001300805:exon3:c.C164T:p.A55V,MDFI:NM_001300806:exon3:c.C347T:p.A116V,MDFI:NM_005586:exon4:c.C347T:p.A116V,MDFI:NM_001300804:exon5:c.C347T:p.A116V",T,N,N,.,N,T
chr7,44046934,44046934,G,A,P286189_F,SPDYE1,Missense_Mutation,NM_175064,exon5,c.G700A,p.G234R,SNP,SNVindel,exonic,SPDYE1,NA,nonsynonymous SNV,SPDYE1:NM_175064:exon5:c.G700A:p.G234R,D,N,N,.,D,T
chr9,136677305,136677305,G,A,P286189_F,VAV2,Silent,NM_001134398,exon5,c.C483T,p.C161C,SNP,SNVindel,exonic,VAV2,NA,synonymous SNV,"VAV2:NM_001134398:exon5:c.C483T:p.C161C,VAV2:NM_003371:exon5:c.C483T:p.C161C",NA,NA,NA,NA,NA,NA
chr11,320606,320606,G,T,P286189_F,IFITM3,Missense_Mutation,NM_021034,exon1,c.C208A,p.P70T,SNP,SNVindel,exonic,IFITM3,NA,nonsynonymous SNV,IFITM3:NM_021034:exon1:c.C208A:p.P70T,T,.,N,T,N,T
chr11,320649,320649,G,A,P286189_F,IFITM3,Silent,NM_021034,exon1,c.C165T,p.P55P,SNP,SNVindel,exonic,IFITM3,NA,synonymous SNV,IFITM3:NM_021034:exon1:c.C165T:p.P55P,NA,NA,NA,NA,NA,NA
chr11,75431197,75431197,G,T,P286189_F,MOGAT2,Missense_Mutation,NM_025098,exon2,c.G252T,p.K84N,SNP,SNVindel,exonic,MOGAT2,NA,nonsynonymous SNV,MOGAT2:NM_025098:exon2:c.G252T:p.K84N,D,N,N,T,D,T
chr11,123893801,123893801,A,G,P286189_F,OR10G9,Missense_Mutation,NM_001001953,exon1,c.A82G,p.I28V,SNP,SNVindel,exonic,OR10G9,NA,nonsynonymous SNV,OR10G9:NM_001001953:exon1:c.A82G:p.I28V,T,N,N,T,N,T
chr15,85787825,85787825,C,T,P286189_F,GOLGA6L3,Missense_Mutation,NM_001310153,exon6,c.C604T,p.R202C,SNP,SNVindel,exonic,GOLGA6L3,NA,nonsynonymous SNV,GOLGA6L3:NM_001310153:exon6:c.C604T:p.R202C,NA,NA,NA,NA,NA,NA
chr16,337085,337085,C,T,P286189_F,PDIA2,Missense_Mutation,NM_006849,exon11,c.C1550T,p.S517F,SNP,SNVindel,exonic,PDIA2,NA,nonsynonymous SNV,PDIA2:NM_006849:exon11:c.C1550T:p.S517F,D,N,N,T,N,T
chr16,57690437,57690437,G,A,P286189_F,ADGRG1,Missense_Mutation,NM_001145773,exon9,c.G1090A,p.G364R,SNP,SNVindel,exonic,ADGRG1,NA,nonsynonymous SNV,"ADGRG1:NM_001145773:exon9:c.G1090A:p.G364R,ADGRG1:NM_001290142:exon9:c.G565A:p.G189R,ADGRG1:NM_001290143:exon9:c.G550A:p.G184R,ADGRG1:NM_001290144:exon9:c.G550A:p.G184R,ADGRG1:NM_001370429:exon9:c.G1075A:p.G359R,ADGRG1:NM_001370430:exon9:c.G1075A:p.G359R,ADGRG1:NM_001370432:exon9:c.G1075A:p.G359R,ADGRG1:NM_001370433:exon9:c.G1090A:p.G364R,ADGRG1:NM_001370435:exon9:c.G1075A:p.G359R,ADGRG1:NM_001370438:exon9:c.G1075A:p.G359R,ADGRG1:NM_001370439:exon9:c.G1075A:p.G359R,ADGRG1:NM_001370441:exon9:c.G1072A:p.G358R,ADGRG1:NM_001370454:exon9:c.G550A:p.G184R,ADGRG1:NM_201525:exon9:c.G1075A:p.G359R,ADGRG1:NM_001145770:exon10:c.G1075A:p.G359R,ADGRG1:NM_001145771:exon10:c.G1075A:p.G359R,ADGRG1:NM_001145772:exon10:c.G1075A:p.G359R,ADGRG1:NM_001145774:exon10:c.G1075A:p.G359R,ADGRG1:NM_001370428:exon10:c.G1075A:p.G359R,ADGRG1:NM_001370431:exon10:c.G1075A:p.G359R,ADGRG1:NM_001370434:exon10:c.G1072A:p.G358R,ADGRG1:NM_001370436:exon10:c.G1075A:p.G359R,ADGRG1:NM_001370437:exon10:c.G1075A:p.G359R,ADGRG1:NM_001370440:exon10:c.G1075A:p.G359R,ADGRG1:NM_001370442:exon10:c.G919A:p.G307R,ADGRG1:NM_001370451:exon10:c.G550A:p.G184R,ADGRG1:NM_001370453:exon10:c.G550A:p.G184R,ADGRG1:NM_005682:exon10:c.G1075A:p.G359R,ADGRG1:NM_201524:exon10:c.G1075A:p.G359R",D,D,D,T,D,D
chr16,75513142,75513142,T,C,P286189_F,CHST6,Silent,NM_021615,exon3,c.A585G,p.L195L,SNP,SNVindel,exonic,CHST6,NA,synonymous SNV,CHST6:NM_021615:exon3:c.A585G:p.L195L,NA,NA,NA,NA,NA,NA
chr17,39262247,39262247,T,G,P286189_F,KRTAP4-9,Missense_Mutation,NM_001146041,exon1,c.T607G,p.L203V,SNP,SNVindel,exonic,KRTAP4-9;LOC100996750,NA,nonsynonymous SNV,"KRTAP4-9:NM_001146041:exon1:c.T607G:p.L203V,LOC100996750:NM_001365252:exon3:c.T592G:p.L198V",T,.,N,T,N,T
chr17,39262255,39262255,T,C,P286189_F,KRTAP4-9,Silent,NM_001146041,exon1,c.T615C,p.C205C,SNP,SNVindel,exonic,KRTAP4-9;LOC100996750,NA,synonymous SNV,"KRTAP4-9:NM_001146041:exon1:c.T615C:p.C205C,LOC100996750:NM_001365252:exon3:c.T600C:p.C200C",NA,NA,NA,NA,NA,NA
chr18,70205435,70205435,C,A,P286189_F,CBLN2,Silent,NM_182511,exon5,c.G651T,p.S217S,SNP,SNVindel,exonic,CBLN2,NA,synonymous SNV,CBLN2:NM_182511:exon5:c.G651T:p.S217S,NA,NA,NA,NA,NA,NA
chr1,12170191,12170191,G,A,P286189_S,TNFRSF8,Silent,NM_001281430,exon5,c.G273A,p.Q91Q,SNP,SNVindel,exonic,TNFRSF8,NA,synonymous SNV,"TNFRSF8:NM_001281430:exon5:c.G273A:p.Q91Q,TNFRSF8:NM_001243:exon6:c.G606A:p.Q202Q",NA,NA,NA,NA,NA,NA
chr1,16891333,16891333,C,T,P286189_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,36564732,36564732,G,A,P286189_S,COL8A2,Missense_Mutation,NM_001294347,exon4,c.C355T,p.P119S,SNP,SNVindel,exonic,COL8A2,NA,nonsynonymous SNV,"COL8A2:NM_001294347:exon4:c.C355T:p.P119S,COL8A2:NM_005202:exon4:c.C550T:p.P184S",D,D,D,D,N,D
chr1,55165997,55165997,C,T,P286189_S,MROH7,Missense_Mutation,NM_001291332,exon16,c.C1522T,p.L508F,SNP,SNVindel,exonic,MROH7,NA,nonsynonymous SNV,"MROH7:NM_001291332:exon16:c.C1522T:p.L508F,MROH7:NM_001039464:exon18:c.C2968T:p.L990F",T,N,D,T,N,T
chr1,86591511,86591511,T,C,P286189_S,COL24A1,Missense_Mutation,NM_152890,exon3,c.A508G,p.I170V,SNP,SNVindel,exonic,COL24A1,NA,nonsynonymous SNV,COL24A1:NM_152890:exon3:c.A508G:p.I170V,T,N,N,T,N,T
chr1,144621504,144621504,T,G,P286189_S,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,150131295,150131295,C,T,P286189_S,PLEKHO1,Silent,NM_001304723,exon5,c.C291T,p.C97C,SNP,SNVindel,exonic,PLEKHO1,NA,synonymous SNV,"PLEKHO1:NM_001304723:exon5:c.C291T:p.C97C,PLEKHO1:NM_001304724:exon5:c.C258T:p.C86C,PLEKHO1:NM_001304722:exon6:c.C291T:p.C97C,PLEKHO1:NM_016274:exon6:c.C807T:p.C269C",NA,NA,NA,NA,NA,NA
chr1,155264437,155264437,C,A,P286189_S,PKLR,Missense_Mutation,NM_000298,exon6,c.G801T,p.Q267H,SNP,SNVindel,exonic,PKLR,NA,nonsynonymous SNV,"PKLR:NM_000298:exon6:c.G801T:p.Q267H,PKLR:NM_181871:exon6:c.G708T:p.Q236H",D,D,D,D,N,D
chr1,155264438,155264438,T,C,P286189_S,PKLR,Missense_Mutation,NM_000298,exon6,c.A800G,p.Q267R,SNP,SNVindel,exonic,PKLR,NA,nonsynonymous SNV,"PKLR:NM_000298:exon6:c.A800G:p.Q267R,PKLR:NM_181871:exon6:c.A707G:p.Q236R",D,D,D,D,N,D
chr1,156893859,156893859,C,T,P286189_S,LRRC71,Silent,NM_144702,exon2,c.C279T,p.P93P,SNP,SNVindel,exonic,LRRC71,NA,synonymous SNV,LRRC71:NM_144702:exon2:c.C279T:p.P93P,NA,NA,NA,NA,NA,NA
chr1,167400929,167400929,G,C,P286189_S,CD247,Missense_Mutation,NM_000734,exon8,c.C481G,p.P161A,SNP,SNVindel,exonic,CD247,NA,nonsynonymous SNV,"CD247:NM_000734:exon8:c.C481G:p.P161A,CD247:NM_198053:exon8:c.C484G:p.P162A",T,.,D,.,D,T
chr1,169694885,169694885,T,A,P286189_S,SELE,Nonstop_Mutation,NM_000450,exon13,c.A1833T,p.X611Y,SNP,SNVindel,exonic,SELE,NA,stoploss,SELE:NM_000450:exon13:c.A1833T:p.X611Y,.,.,N,.,.,.
chr1,175049431,175049431,A,T,P286189_S,TNN,Missense_Mutation,NM_022093,exon4,c.A917T,p.Q306L,SNP,SNVindel,exonic,TNN,NA,nonsynonymous SNV,TNN:NM_022093:exon4:c.A917T:p.Q306L,D,N,D,T,D,T
chr1,202104890,202104890,G,A,P286189_S,ARL8A,Missense_Mutation,NM_001256129,exon4,c.C317T,p.A106V,SNP,SNVindel,exonic,ARL8A,NA,nonsynonymous SNV,"ARL8A:NM_001256129:exon4:c.C317T:p.A106V,ARL8A:NM_138795:exon4:c.C317T:p.A106V",T,D,D,D,N,T
chr1,223567626,223567626,C,T,P286189_S,CCDC185,Missense_Mutation,NM_152610,exon1,c.C809T,p.A270V,SNP,SNVindel,exonic,CCDC185,NA,nonsynonymous SNV,CCDC185:NM_152610:exon1:c.C809T:p.A270V,D,.,N,T,N,T
chr1,225458512,225458512,T,A,P286189_S,DNAH14,Missense_Mutation,NM_001367479,exon50,c.T7615A,p.F2539I,SNP,SNVindel,exonic,DNAH14,NA,nonsynonymous SNV,DNAH14:NM_001367479:exon50:c.T7615A:p.F2539I,D,.,N,T,D,T
chr1,241798838,241798838,C,A,P286189_S,CHML,Missense_Mutation,NM_001821,exon1,c.G231T,p.Q77H,SNP,SNVindel,exonic,CHML,NA,nonsynonymous SNV,CHML:NM_001821:exon1:c.G231T:p.Q77H,D,U,D,T,N,T
chr2,15449301,15449301,T,C,P286189_S,NBAS,Silent,NM_015909,exon39,c.A4653G,p.L1551L,SNP,SNVindel,exonic,NBAS,NA,synonymous SNV,NBAS:NM_015909:exon39:c.A4653G:p.L1551L,NA,NA,NA,NA,NA,NA
chr2,73717344,73717344,A,G,P286189_S,ALMS1,Missense_Mutation,NM_015120,exon10,c.A8255G,p.H2752R,SNP,SNVindel,exonic,ALMS1,NA,nonsynonymous SNV,ALMS1:NM_015120:exon10:c.A8255G:p.H2752R,.,N,N,.,.,T
chr2,178879084,178879084,G,T,P286189_S,PDE11A,Missense_Mutation,NM_016953,exon2,c.C1016A,p.A339D,SNP,SNVindel,exonic,PDE11A,NA,nonsynonymous SNV,"PDE11A:NM_016953:exon2:c.C1016A:p.A339D,PDE11A:NM_001077197:exon3:c.C266A:p.A89D",D,D,D,T,D,D
chr2,179770168,179770168,T,A,P286189_S,CCDC141,Missense_Mutation,NM_001316745,exon8,c.A1153T,p.S385C,SNP,SNVindel,exonic,CCDC141,NA,nonsynonymous SNV,"CCDC141:NM_001316745:exon8:c.A1153T:p.S385C,CCDC141:NM_173648:exon8:c.A1153T:p.S385C",D,.,N,T,D,T
chr2,240946766,240946766,T,C,P286189_S,NDUFA10,Silent,NM_001322019,exon7,c.A771G,p.Q257Q,SNP,SNVindel,exonic,NDUFA10,NA,synonymous SNV,"NDUFA10:NM_001322019:exon7:c.A771G:p.Q257Q,NDUFA10:NM_001322020:exon7:c.A771G:p.Q257Q,NDUFA10:NM_004544:exon7:c.A771G:p.Q257Q",D,.,P,D,N,T
chr3,10442751,10442751,G,A,P286189_S,ATP2B2,Missense_Mutation,NM_001001331,exon5,c.C667T,p.P223S,SNP,SNVindel,exonic,ATP2B2,NA,nonsynonymous SNV,"ATP2B2:NM_001001331:exon5:c.C667T:p.P223S,ATP2B2:NM_001330611:exon5:c.C667T:p.P223S,ATP2B2:NM_001363862:exon5:c.C667T:p.P223S,ATP2B2:NM_001683:exon5:c.C667T:p.P223S,ATP2B2:NM_001353564:exon6:c.C667T:p.P223S",D,D,D,D,D,D
chr3,98518483,98518483,C,T,P286189_S,DCBLD2,Silent,NM_080927,exon16,c.G2061A,p.G687G,SNP,SNVindel,exonic,DCBLD2,NA,synonymous SNV,DCBLD2:NM_080927:exon16:c.G2061A:p.G687G,NA,NA,NA,NA,NA,NA
chr3,125844532,125844532,G,T,P286189_S,ALDH1L1,Missense_Mutation,NM_001270365,exon13,c.C1424A,p.P475H,SNP,SNVindel,exonic,ALDH1L1,NA,nonsynonymous SNV,"ALDH1L1:NM_001270365:exon13:c.C1424A:p.P475H,ALDH1L1:NM_001270364:exon15:c.C1757A:p.P586H,ALDH1L1:NM_012190:exon15:c.C1727A:p.P576H",D,D,D,T,D,D
chr3,145924486,145924486,A,T,P286189_S,PLSCR4,Missense_Mutation,NM_001177304,exon3,c.T136A,p.Y46N,SNP,SNVindel,exonic,PLSCR4,NA,nonsynonymous SNV,"PLSCR4:NM_001177304:exon3:c.T136A:p.Y46N,PLSCR4:NM_001128305:exon4:c.T181A:p.Y61N,PLSCR4:NM_001128306:exon4:c.T181A:p.Y61N,PLSCR4:NM_020353:exon4:c.T181A:p.Y61N,PLSCR4:NM_001128304:exon6:c.T181A:p.Y61N",T,N,N,T,N,T
chr3,150601490,150601490,C,A,P286189_S,MINDY4B,Missense_Mutation,NM_001351281,exon9,c.G894T,p.R298S,SNP,SNVindel,exonic,MINDY4B,NA,nonsynonymous SNV,MINDY4B:NM_001351281:exon9:c.G894T:p.R298S,NA,NA,NA,NA,NA,NA
chr3,150601504,150601504,C,A,P286189_S,MINDY4B,Missense_Mutation,NM_001351281,exon9,c.G880T,p.G294C,SNP,SNVindel,exonic,MINDY4B,NA,nonsynonymous SNV,MINDY4B:NM_001351281:exon9:c.G880T:p.G294C,NA,NA,NA,NA,NA,NA
chr3,151164177,151164177,A,G,P286189_S,IGSF10,Missense_Mutation,NM_178822,exon4,c.T3592C,p.F1198L,SNP,SNVindel,exonic,IGSF10,NA,nonsynonymous SNV,IGSF10:NM_178822:exon4:c.T3592C:p.F1198L,T,N,N,T,N,T
chr4,9212403,9212403,C,G,P286189_S,USP17L10,Nonsense_Mutation,NM_001256852,exon1,c.C21G,p.Y7X,SNP,SNVindel,exonic,USP17L10,NA,stopgain,USP17L10:NM_001256852:exon1:c.C21G:p.Y7X,.,.,A,.,.,.
chr5,7861320,7861320,A,T,P286189_S,FASTKD3,Missense_Mutation,NM_024091,exon6,c.T1826A,p.L609Q,SNP,SNVindel,exonic,FASTKD3,NA,nonsynonymous SNV,FASTKD3:NM_024091:exon6:c.T1826A:p.L609Q,D,D,D,T,D,T
chr5,39364559,39364559,G,C,P286189_S,C9,Missense_Mutation,NM_001737,exon1,c.C8G,p.A3G,SNP,SNVindel,exonic,C9,NA,nonsynonymous SNV,C9:NM_001737:exon1:c.C8G:p.A3G,T,N,N,T,N,T
chr5,43446558,43446558,T,C,P286189_S,TMEM267,Silent,NM_022483,exon3,c.A414G,p.K138K,SNP,SNVindel,exonic,TMEM267,NA,synonymous SNV,TMEM267:NM_022483:exon3:c.A414G:p.K138K,NA,NA,NA,NA,NA,NA
chr5,76749733,76749733,T,C,P286189_S,WDR41,Silent,NM_018268,exon6,c.A432G,p.R144R,SNP,SNVindel,exonic,WDR41,NA,synonymous SNV,WDR41:NM_018268:exon6:c.A432G:p.R144R,NA,NA,NA,NA,NA,NA
chr5,107684149,107684149,G,A,P286189_S,FBXL17,Missense_Mutation,NM_001163315,exon4,c.C1457T,p.A486V,SNP,SNVindel,exonic,FBXL17,NA,nonsynonymous SNV,FBXL17:NM_001163315:exon4:c.C1457T:p.A486V,T,D,D,T,D,T
chr5,132648347,132648347,G,A,P286189_S,FSTL4,Silent,NM_015082,exon6,c.C726T,p.F242F,SNP,SNVindel,exonic,FSTL4,NA,synonymous SNV,FSTL4:NM_015082:exon6:c.C726T:p.F242F,NA,NA,NA,NA,NA,NA
chr5,169812418,169812418,C,T,P286189_S,KCNMB1,Missense_Mutation,NM_004137,exon2,c.G34A,p.G12R,SNP,SNVindel,exonic,KCNMB1,NA,nonsynonymous SNV,KCNMB1:NM_004137:exon2:c.G34A:p.G12R,D,D,D,T,D,T
chr5,176396012,176396012,C,A,P286189_S,UIMC1,Missense_Mutation,NM_001199298,exon6,c.G744T,p.Q248H,SNP,SNVindel,exonic,UIMC1,NA,nonsynonymous SNV,"UIMC1:NM_001199298:exon6:c.G744T:p.Q248H,UIMC1:NM_016290:exon6:c.G744T:p.Q248H,UIMC1:NM_001199297:exon7:c.G744T:p.Q248H",D,N,D,T,N,T
chr6,7584449,7584449,A,T,P286189_S,DSP,Missense_Mutation,NM_001008844,exon24,c.A5157T,p.R1719S,SNP,SNVindel,exonic,DSP,NA,nonsynonymous SNV,"DSP:NM_001008844:exon24:c.A5157T:p.R1719S,DSP:NM_001319034:exon24:c.A5625T:p.R1875S,DSP:NM_004415:exon24:c.A6954T:p.R2318S",D,D,D,T,N,T
chr6,26027409,26027409,C,T,P286189_S,HIST1H4B,Silent,NM_003544,exon1,c.G72A,p.R24R,SNP,SNVindel,exonic,HIST1H4B,NA,synonymous SNV,HIST1H4B:NM_003544:exon1:c.G72A:p.R24R,NA,NA,NA,NA,NA,NA
chr6,41617444,41617444,C,T,P286189_S,MDFI,Missense_Mutation,NM_001300805,exon3,c.C164T,p.A55V,SNP,SNVindel,exonic,MDFI,NA,nonsynonymous SNV,"MDFI:NM_001300805:exon3:c.C164T:p.A55V,MDFI:NM_001300806:exon3:c.C347T:p.A116V,MDFI:NM_005586:exon4:c.C347T:p.A116V,MDFI:NM_001300804:exon5:c.C347T:p.A116V",T,N,N,.,N,T
chr6,46658550,46658550,C,T,P286189_S,TDRD6,Silent,NM_001010870,exon1,c.C2685T,p.P895P,SNP,SNVindel,exonic,TDRD6,NA,synonymous SNV,"TDRD6:NM_001010870:exon1:c.C2685T:p.P895P,TDRD6:NM_001168359:exon1:c.C2685T:p.P895P",NA,NA,NA,NA,NA,NA
chr6,128319935,128319935,A,G,P286189_S,PTPRK,Missense_Mutation,NM_001135648,exon16,c.T2609C,p.V870A,SNP,SNVindel,exonic,PTPRK,NA,nonsynonymous SNV,"PTPRK:NM_001135648:exon16:c.T2609C:p.V870A,PTPRK:NM_001291984:exon16:c.T2606C:p.V869A,PTPRK:NM_002844:exon16:c.T2609C:p.V870A,PTPRK:NM_001291981:exon18:c.T2657C:p.V886A",D,D,D,T,D,T
chr7,1538442,1538442,C,G,P286189_S,INTS1,Missense_Mutation,NM_001080453,exon9,c.G1184C,p.C395S,SNP,SNVindel,exonic,INTS1,NA,nonsynonymous SNV,INTS1:NM_001080453:exon9:c.G1184C:p.C395S,D,D,D,T,D,T
chr7,4201450,4201450,A,G,P286189_S,SDK1,Missense_Mutation,NM_001079653,exon6,c.A223G,p.T75A,SNP,SNVindel,exonic,SDK1,NA,nonsynonymous SNV,"SDK1:NM_001079653:exon6:c.A223G:p.T75A,SDK1:NM_152744:exon32:c.A4762G:p.T1588A",D,D,N,T,D,T
chr7,30491611,30491611,G,C,P286189_S,NOD1,Missense_Mutation,NM_001354849,exon6,c.C1422G,p.S474R,SNP,SNVindel,exonic,NOD1,NA,nonsynonymous SNV,"NOD1:NM_001354849:exon6:c.C1422G:p.S474R,NOD1:NM_006092:exon6:c.C1422G:p.S474R",D,N,N,T,N,T
chr7,45717647,45717647,C,T,P286189_S,ADCY1,Silent,NM_021116,exon9,c.C1785T,p.V595V,SNP,SNVindel,exonic,ADCY1,NA,synonymous SNV,ADCY1:NM_021116:exon9:c.C1785T:p.V595V,NA,NA,NA,NA,NA,NA
chr7,72242492,72242492,C,T,P286189_S,TYW1B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TYW1B,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr7,81667474,81667474,T,G,P286189_S,CACNA2D1,Missense_Mutation,NM_000722,exon11,c.A957C,p.K319N,SNP,SNVindel,exonic,CACNA2D1,NA,nonsynonymous SNV,"CACNA2D1:NM_000722:exon11:c.A957C:p.K319N,CACNA2D1:NM_001366867:exon11:c.A957C:p.K319N",D,D,D,T,D,T
chr8,10467513,10467513,T,A,P286189_S,RP1L1,Missense_Mutation,NM_178857,exon4,c.A4095T,p.E1365D,SNP,SNVindel,exonic,RP1L1,NA,nonsynonymous SNV,RP1L1:NM_178857:exon4:c.A4095T:p.E1365D,D,.,N,T,N,T
chr8,77767457,77767457,T,C,P286189_S,ZFHX4,Missense_Mutation,NM_024721,exon10,c.T8300C,p.L2767P,SNP,SNVindel,exonic,ZFHX4,NA,nonsynonymous SNV,ZFHX4:NM_024721:exon10:c.T8300C:p.L2767P,D,U,D,T,D,T
chr8,113697862,113697862,A,G,P286189_S,CSMD3,Missense_Mutation,NM_001363185,exon13,c.T1865C,p.I622T,SNP,SNVindel,exonic,CSMD3,NA,nonsynonymous SNV,"CSMD3:NM_001363185:exon13:c.T1865C:p.I622T,CSMD3:NM_052900:exon14:c.T1943C:p.I648T,CSMD3:NM_198123:exon15:c.T2255C:p.I752T,CSMD3:NM_198124:exon16:c.T2135C:p.I712T",T,D,D,T,D,T
chr8,121426338,121426338,T,C,P286189_S,MRPL13,Missense_Mutation,NM_014078,exon6,c.A407G,p.D136G,SNP,SNVindel,exonic,MRPL13,NA,nonsynonymous SNV,MRPL13:NM_014078:exon6:c.A407G:p.D136G,T,D,D,.,D,T
chr8,141799625,141799625,C,A,P286189_S,PTK2,Missense_Mutation,NM_001352746,exon10,c.G615T,p.K205N,SNP,SNVindel,exonic,PTK2,NA,nonsynonymous SNV,"PTK2:NM_001352746:exon10:c.G615T:p.K205N,PTK2:NM_001352742:exon11:c.G723T:p.K241N,PTK2:NM_001352744:exon11:c.G678T:p.K226N,PTK2:NM_001352745:exon11:c.G678T:p.K226N,PTK2:NM_001316342:exon12:c.G786T:p.K262N,PTK2:NM_001352728:exon12:c.G1017T:p.K339N,PTK2:NM_001352729:exon12:c.G1017T:p.K339N,PTK2:NM_001352730:exon12:c.G786T:p.K262N,PTK2:NM_001352732:exon12:c.G786T:p.K262N,PTK2:NM_001352733:exon12:c.G786T:p.K262N,PTK2:NM_001352734:exon12:c.G786T:p.K262N,PTK2:NM_001352735:exon12:c.G723T:p.K241N,PTK2:NM_001352738:exon12:c.G786T:p.K262N,PTK2:NM_001352741:exon12:c.G786T:p.K262N,PTK2:NM_001352694:exon13:c.G1125T:p.K375N,PTK2:NM_001352696:exon13:c.G786T:p.K262N,PTK2:NM_001352700:exon13:c.G1125T:p.K375N,PTK2:NM_001352706:exon13:c.G1125T:p.K375N,PTK2:NM_001352711:exon13:c.G1122T:p.K374N,PTK2:NM_001352713:exon13:c.G1125T:p.K375N,PTK2:NM_001352715:exon13:c.G1125T:p.K375N,PTK2:NM_001352716:exon13:c.G1017T:p.K339N,PTK2:NM_001352720:exon13:c.G1125T:p.K375N,PTK2:NM_001352721:exon13:c.G1125T:p.K375N,PTK2:NM_001352726:exon13:c.G1017T:p.K339N,PTK2:NM_001352727:exon13:c.G1125T:p.K375N,PTK2:NM_001352731:exon13:c.G786T:p.K262N,PTK2:NM_001352737:exon13:c.G786T:p.K262N,PTK2:NM_001352739:exon13:c.G786T:p.K262N,PTK2:NM_001352740:exon13:c.G786T:p.K262N,PTK2:NM_001352743:exon13:c.G786T:p.K262N,PTK2:NM_001352748:exon13:c.G1125T:p.K375N,PTK2:NM_001199649:exon14:c.G1125T:p.K375N,PTK2:NM_001352695:exon14:c.G1125T:p.K375N,PTK2:NM_001352698:exon14:c.G1164T:p.K388N,PTK2:NM_001352699:exon14:c.G1125T:p.K375N,PTK2:NM_001352701:exon14:c.G1125T:p.K375N,PTK2:NM_001352702:exon14:c.G1125T:p.K375N,PTK2:NM_001352703:exon14:c.G1125T:p.K375N,PTK2:NM_001352704:exon14:c.G1125T:p.K375N,PTK2:NM_001352705:exon14:c.G1164T:p.K388N,PTK2:NM_001352707:exon14:c.G1125T:p.K375N,PTK2:NM_001352708:exon14:c.G1125T:p.K375N,PTK2:NM_001352709:exon14:c.G1125T:p.K375N,PTK2:NM_001352710:exon14:c.G1125T:p.K375N,PTK2:NM_001352714:exon14:c.G1125T:p.K375N,PTK2:NM_001352717:exon14:c.G1125T:p.K375N,PTK2:NM_001352718:exon14:c.G1125T:p.K375N,PTK2:NM_001352719:exon14:c.G1125T:p.K375N,PTK2:NM_001352722:exon14:c.G1125T:p.K375N,PTK2:NM_001352723:exon14:c.G1125T:p.K375N,PTK2:NM_001352724:exon14:c.G1125T:p.K375N,PTK2:NM_001352736:exon14:c.G822T:p.K274N,PTK2:NM_005607:exon14:c.G1191T:p.K397N,PTK2:NM_153831:exon14:c.G1125T:p.K375N,PTK2:NM_001352712:exon15:c.G1125T:p.K375N,PTK2:NM_001352725:exon15:c.G1125T:p.K375N,PTK2:NM_001352697:exon16:c.G1257T:p.K419N",T,D,D,T,N,T
chr9,24545558,24545558,C,T,P286189_S,IZUMO3,Silent,NM_001271706,exon1,c.G90A,p.E30E,SNP,SNVindel,exonic,IZUMO3,NA,synonymous SNV,"IZUMO3:NM_001271706:exon1:c.G90A:p.E30E,IZUMO3:NM_001365008:exon1:c.G90A:p.E30E",NA,NA,NA,NA,NA,NA
chr9,112969736,112969736,G,A,P286189_S,C9orf152,Silent,NM_001012993,exon1,c.C124T,p.L42L,SNP,SNVindel,exonic,C9orf152,NA,synonymous SNV,C9orf152:NM_001012993:exon1:c.C124T:p.L42L,NA,NA,NA,NA,NA,NA
chr9,125273253,125273253,C,T,P286189_S,OR1J2,Missense_Mutation,NM_054107,exon1,c.C173T,p.P58L,SNP,SNVindel,exonic,OR1J2,NA,nonsynonymous SNV,OR1J2:NM_054107:exon1:c.C173T:p.P58L,D,U,D,T,D,T
chr9,136303367,136303367,C,A,P286189_S,ADAMTS13,Missense_Mutation,NM_139025,exon14,c.C1586A,p.T529K,SNP,SNVindel,exonic,ADAMTS13,NA,nonsynonymous SNV,"ADAMTS13:NM_139025:exon14:c.C1586A:p.T529K,ADAMTS13:NM_139026:exon14:c.C1493A:p.T498K,ADAMTS13:NM_139027:exon14:c.C1586A:p.T529K",T,.,N,T,N,T
chr9,140147730,140147730,A,G,P286189_S,STPG3,Missense_Mutation,NM_001256699,exon6,c.A976G,p.T326A,SNP,SNVindel,exonic,STPG3,NA,nonsynonymous SNV,"STPG3:NM_001256699:exon6:c.A976G:p.T326A,STPG3:NM_001256700:exon6:c.A811G:p.T271A",D,.,N,T,N,T
chr10,15183554,15183554,C,G,P286189_S,NMT2,Missense_Mutation,NM_001308295,exon2,c.G31C,p.V11L,SNP,SNVindel,exonic,NMT2,NA,nonsynonymous SNV,"NMT2:NM_001308295:exon2:c.G31C:p.V11L,NMT2:NM_004808:exon2:c.G113C:p.S38T",D,D,D,T,N,T
chr10,49450250,49450250,A,T,P286189_S,FRMPD2,Missense_Mutation,NM_001318191,exon3,c.T449A,p.L150H,SNP,SNVindel,exonic,FRMPD2,NA,nonsynonymous SNV,"FRMPD2:NM_001318191:exon3:c.T449A:p.L150H,FRMPD2:NM_001018071:exon5:c.T521A:p.L174H",T,.,N,T,D,T
chr10,55568472,55568472,C,T,P286189_S,PCDH15,Missense_Mutation,NM_001354411,exon35,c.G5332A,p.G1778S,SNP,SNVindel,exonic,PCDH15,NA,nonsynonymous SNV,PCDH15:NM_001354411:exon35:c.G5332A:p.G1778S,D,.,D,T,N,T
chr10,126086567,126086567,C,T,P286189_S,OAT,Missense_Mutation,NM_001322971,exon8,c.G943A,p.E315K,SNP,SNVindel,exonic,OAT,NA,nonsynonymous SNV,"OAT:NM_001322971:exon8:c.G943A:p.E315K,OAT:NM_001171814:exon9:c.G850A:p.E284K,OAT:NM_000274:exon10:c.G1264A:p.E422K,OAT:NM_001322965:exon10:c.G1264A:p.E422K,OAT:NM_001322974:exon10:c.G664A:p.E222K,OAT:NM_001322966:exon11:c.G1264A:p.E422K,OAT:NM_001322967:exon11:c.G1264A:p.E422K,OAT:NM_001322969:exon11:c.G1264A:p.E422K,OAT:NM_001322968:exon12:c.G1264A:p.E422K,OAT:NM_001322970:exon12:c.G1264A:p.E422K",T,D,D,D,N,T
chr11,1268304,1268304,A,G,P286189_S,MUC5B,Silent,NM_002458,exon31,c.A10194G,p.T3398T,SNP,SNVindel,exonic,MUC5B,NA,synonymous SNV,MUC5B:NM_002458:exon31:c.A10194G:p.T3398T,NA,NA,NA,NA,NA,NA
chr11,6568099,6568099,A,G,P286189_S,DNHD1,Missense_Mutation,NM_144666,exon21,c.A5930G,p.Q1977R,SNP,SNVindel,exonic,DNHD1,NA,nonsynonymous SNV,DNHD1:NM_144666:exon21:c.A5930G:p.Q1977R,D,N,D,T,D,T
chr11,66331617,66331617,C,A,P286189_S,CTSF,Missense_Mutation,NM_003793,exon12,c.G1322T,p.R441L,SNP,SNVindel,exonic,CTSF,NA,nonsynonymous SNV,CTSF:NM_003793:exon12:c.G1322T:p.R441L,D,D,D,D,D,T
chr11,78600940,78600940,C,T,P286189_S,TENM4,Missense_Mutation,NM_001098816,exon9,c.G974A,p.R325Q,SNP,SNVindel,exonic,TENM4,NA,nonsynonymous SNV,TENM4:NM_001098816:exon9:c.G974A:p.R325Q,D,D,D,T,D,T
chr11,89891357,89891357,C,A,P286189_S,NAALAD2,Silent,NM_001300930,exon7,c.C841A,p.R281R,SNP,SNVindel,exonic,NAALAD2,NA,synonymous SNV,"NAALAD2:NM_001300930:exon7:c.C841A:p.R281R,NAALAD2:NM_005467:exon7:c.C841A:p.R281R",NA,NA,NA,NA,NA,NA
chr11,89891358,89891358,G,A,P286189_S,NAALAD2,Missense_Mutation,NM_001300930,exon7,c.G842A,p.R281Q,SNP,SNVindel,exonic,NAALAD2,NA,nonsynonymous SNV,"NAALAD2:NM_001300930:exon7:c.G842A:p.R281Q,NAALAD2:NM_005467:exon7:c.G842A:p.R281Q",T,N,D,T,N,T
chr11,113679881,113679881,G,T,P286189_S,USP28,Missense_Mutation,NM_001346268,exon13,c.C1069A,p.Q357K,SNP,SNVindel,exonic,USP28,NA,nonsynonymous SNV,"USP28:NM_001346268:exon13:c.C1069A:p.Q357K,USP28:NM_001301029:exon15:c.C1693A:p.Q565K,USP28:NM_001346260:exon15:c.C1696A:p.Q566K,USP28:NM_001346261:exon15:c.C1693A:p.Q565K,USP28:NM_001346264:exon15:c.C1069A:p.Q357K,USP28:NM_001346267:exon15:c.C1069A:p.Q357K,USP28:NM_001346253:exon16:c.C1990A:p.Q664K,USP28:NM_001346257:exon16:c.C1990A:p.Q664K,USP28:NM_001346259:exon16:c.C1990A:p.Q664K,USP28:NM_001346262:exon16:c.C1693A:p.Q565K,USP28:NM_001346263:exon16:c.C1207A:p.Q403K,USP28:NM_001346269:exon16:c.C1012A:p.Q338K,USP28:NM_001346272:exon16:c.C1012A:p.Q338K,USP28:NM_001346252:exon17:c.C2068A:p.Q690K,USP28:NM_001346254:exon17:c.C2071A:p.Q691K,USP28:NM_001346258:exon17:c.C2068A:p.Q690K,USP28:NM_020886:exon17:c.C2068A:p.Q690K,USP28:NM_001346255:exon18:c.C2059A:p.Q687K,USP28:NM_001346265:exon18:c.C1012A:p.Q338K,USP28:NM_001346271:exon18:c.C1012A:p.Q338K,USP28:NM_001346270:exon19:c.C1012A:p.Q338K",T,D,D,T,N,T
chr11,130281432,130281432,C,T,P286189_S,ADAMTS8,Missense_Mutation,NM_007037,exon6,c.G1630A,p.G544R,SNP,SNVindel,exonic,ADAMTS8,NA,nonsynonymous SNV,ADAMTS8:NM_007037:exon6:c.G1630A:p.G544R,D,D,D,T,D,T
chr12,39997747,39997747,T,A,P286189_S,ABCD2,Silent,NM_005164,exon5,c.A1467T,p.A489A,SNP,SNVindel,exonic,ABCD2,NA,synonymous SNV,ABCD2:NM_005164:exon5:c.A1467T:p.A489A,NA,NA,NA,NA,NA,NA
chr12,43777775,43777775,A,T,P286189_S,ADAMTS20,Silent,NM_025003,exon30,c.T4458A,p.S1486S,SNP,SNVindel,exonic,ADAMTS20,NA,synonymous SNV,ADAMTS20:NM_025003:exon30:c.T4458A:p.S1486S,NA,NA,NA,NA,NA,NA
chr12,52215919,52215919,T,A,P286189_S,FIGNL2,Missense_Mutation,NM_001013690,exon2,c.A279T,p.K93N,SNP,SNVindel,exonic,FIGNL2,NA,nonsynonymous SNV,FIGNL2:NM_001013690:exon2:c.A279T:p.K93N,NA,NA,NA,NA,NA,NA
chr12,57033771,57033771,A,G,P286189_S,ATP5F1B,Missense_Mutation,NM_001686,exon8,c.T1280C,p.I427T,SNP,SNVindel,exonic,ATP5F1B,NA,nonsynonymous SNV,ATP5F1B:NM_001686:exon8:c.T1280C:p.I427T,T,D,D,T,N,T
chr12,90028608,90028608,C,A,P286189_S,ATP2B1,Missense_Mutation,NM_001366530,exon4,c.G536T,p.G179V,SNP,SNVindel,exonic,ATP2B1,NA,nonsynonymous SNV,"ATP2B1:NM_001366530:exon4:c.G536T:p.G179V,ATP2B1:NM_001001323:exon5:c.G734T:p.G245V,ATP2B1:NM_001366521:exon5:c.G734T:p.G245V,ATP2B1:NM_001366522:exon5:c.G734T:p.G245V,ATP2B1:NM_001366523:exon5:c.G734T:p.G245V,ATP2B1:NM_001366524:exon5:c.G734T:p.G245V,ATP2B1:NM_001366525:exon5:c.G734T:p.G245V,ATP2B1:NM_001366526:exon5:c.G734T:p.G245V,ATP2B1:NM_001366527:exon5:c.G734T:p.G245V,ATP2B1:NM_001366528:exon5:c.G734T:p.G245V,ATP2B1:NM_001366529:exon5:c.G734T:p.G245V,ATP2B1:NM_001682:exon5:c.G734T:p.G245V,ATP2B1:NM_001366520:exon6:c.G734T:p.G245V",D,D,D,D,D,D
chr12,104697771,104697771,A,T,P286189_S,EID3,Missense_Mutation,NM_001008394,exon1,c.A59T,p.E20V,SNP,SNVindel,exonic,EID3,NA,nonsynonymous SNV,EID3:NM_001008394:exon1:c.A59T:p.E20V,D,.,N,T,N,T
chr12,109292542,109292542,A,G,P286189_S,DAO,Silent,NM_001917,exon9,c.A783G,p.E261E,SNP,SNVindel,exonic,DAO,NA,synonymous SNV,DAO:NM_001917:exon9:c.A783G:p.E261E,NA,NA,NA,NA,NA,NA
chr13,24797405,24797405,C,T,P286189_S,SPATA13,Missense_Mutation,NM_001166271,exon2,c.C338T,p.S113F,SNP,SNVindel,exonic,SPATA13,NA,nonsynonymous SNV,"SPATA13:NM_001166271:exon2:c.C338T:p.S113F,SPATA13:NM_001286792:exon4:c.C524T:p.S175F",D,U,D,D,N,D
chr13,42874057,42874057,G,T,P286189_S,AKAP11,Missense_Mutation,NM_016248,exon8,c.G1175T,p.G392V,SNP,SNVindel,exonic,AKAP11,NA,nonsynonymous SNV,AKAP11:NM_016248:exon8:c.G1175T:p.G392V,D,N,D,T,N,T
chr13,52509795,52509795,C,A,P286189_S,ATP7B,Missense_Mutation,NM_001005918,exon16,c.G3437T,p.W1146L,SNP,SNVindel,exonic,ATP7B,NA,nonsynonymous SNV,"ATP7B:NM_001005918:exon16:c.G3437T:p.W1146L,ATP7B:NM_001330579:exon18:c.G3806T:p.W1269L,ATP7B:NM_001330578:exon19:c.G3824T:p.W1275L,ATP7B:NM_000053:exon20:c.G4058T:p.W1353L,ATP7B:NM_001243182:exon21:c.G3725T:p.W1242L",D,D,D,D,D,D
chr13,84454055,84454055,G,A,P286189_S,SLITRK1,Missense_Mutation,NM_052910,exon1,c.C1588T,p.P530S,SNP,SNVindel,exonic,SLITRK1,NA,nonsynonymous SNV,"SLITRK1:NM_052910:exon1:c.C1588T:p.P530S,SLITRK1:NM_001281503:exon2:c.C1588T:p.P530S",D,D,D,T,D,T
chr14,20692417,20692417,A,G,P286189_S,OR11H6,Silent,NM_001004480,exon1,c.A549G,p.Q183Q,SNP,SNVindel,exonic,OR11H6,NA,synonymous SNV,OR11H6:NM_001004480:exon1:c.A549G:p.Q183Q,NA,NA,NA,NA,NA,NA
chr14,24458283,24458283,G,T,P286189_S,DHRS4L2,Missense_Mutation,NM_198083,exon1,c.G127T,p.G43W,SNP,SNVindel,exonic,DHRS4L2,NA,nonsynonymous SNV,DHRS4L2:NM_198083:exon1:c.G127T:p.G43W,D,D,D,D,D,D
chr14,59930912,59930912,C,T,P286189_S,GPR135,Missense_Mutation,NM_022571,exon1,c.G1033A,p.G345R,SNP,SNVindel,exonic,GPR135,NA,nonsynonymous SNV,GPR135:NM_022571:exon1:c.G1033A:p.G345R,T,U,D,T,D,D
chr14,63246638,63246638,C,A,P286189_S,KCNH5,Missense_Mutation,NM_139318,exon10,c.G1827T,p.K609N,SNP,SNVindel,exonic,KCNH5,NA,nonsynonymous SNV,KCNH5:NM_139318:exon10:c.G1827T:p.K609N,D,D,D,D,D,D
chr14,76045514,76045514,C,G,P286189_S,FLVCR2,Missense_Mutation,NM_017791,exon1,c.C199G,p.P67A,SNP,SNVindel,exonic,FLVCR2,NA,nonsynonymous SNV,FLVCR2:NM_017791:exon1:c.C199G:p.P67A,T,N,N,T,N,T
chr14,76957877,76957877,C,T,P286189_S,ESRRB,Missense_Mutation,NM_004452,exon8,c.C875T,p.S292L,SNP,SNVindel,exonic,ESRRB,NA,nonsynonymous SNV,ESRRB:NM_004452:exon8:c.C875T:p.S292L,D,D,D,D,D,D
chr14,77686393,77686393,C,T,P286189_S,TMEM63C,Missense_Mutation,NM_020431,exon5,c.C275T,p.P92L,SNP,SNVindel,exonic,TMEM63C,NA,nonsynonymous SNV,TMEM63C:NM_020431:exon5:c.C275T:p.P92L,D,D,D,T,D,T
chr14,96784100,96784100,G,T,P286189_S,ATG2B,Missense_Mutation,NM_018036,exon19,c.C2972A,p.A991D,SNP,SNVindel,exonic,ATG2B,NA,nonsynonymous SNV,ATG2B:NM_018036:exon19:c.C2972A:p.A991D,D,U,D,T,D,T
chr15,27572102,27572102,A,C,P286189_S,GABRG3,Silent,NM_001270873,exon4,c.A417C,p.A139A,SNP,SNVindel,exonic,GABRG3,NA,synonymous SNV,"GABRG3:NM_001270873:exon4:c.A417C:p.A139A,GABRG3:NM_033223:exon4:c.A417C:p.A139A",NA,NA,NA,NA,NA,NA
chr15,32738694,32738694,G,A,P286189_S,GOLGA8O,Missense_Mutation,NM_001277308,exon15,c.C1349T,p.P450L,SNP,SNVindel,exonic,GOLGA8O,NA,nonsynonymous SNV,GOLGA8O:NM_001277308:exon15:c.C1349T:p.P450L,T,.,N,T,N,T
chr15,42178509,42178509,A,G,P286189_S,SPTBN5,Missense_Mutation,NM_016642,exon7,c.T944C,p.V315A,SNP,SNVindel,exonic,SPTBN5,NA,nonsynonymous SNV,SPTBN5:NM_016642:exon7:c.T944C:p.V315A,T,N,N,T,N,T
chr15,43022940,43022940,C,T,P286189_S,CDAN1,Missense_Mutation,NM_138477,exon14,c.G2030A,p.R677Q,SNP,SNVindel,exonic,CDAN1,NA,nonsynonymous SNV,CDAN1:NM_138477:exon14:c.G2030A:p.R677Q,D,N,N,D,N,T
chr15,52539194,52539194,G,T,P286189_S,MYO5C,Nonsense_Mutation,NM_018728,exon16,c.C1899A,p.Y633X,SNP,SNVindel,exonic,MYO5C,NA,stopgain,MYO5C:NM_018728:exon16:c.C1899A:p.Y633X,.,N,A,.,.,.
chr15,75044170,75044170,A,G,P286189_S,CYP1A2,Missense_Mutation,NM_000761,exon4,c.A1017G,p.I339M,SNP,SNVindel,exonic,CYP1A2,NA,nonsynonymous SNV,CYP1A2:NM_000761:exon4:c.A1017G:p.I339M,D,N,N,T,N,T
chr15,80189244,80189244,C,G,P286189_S,MTHFS,Silent,NM_006441,exon1,c.G87C,p.R29R,SNP,SNVindel,exonic,MTHFS,NA,synonymous SNV,MTHFS:NM_006441:exon1:c.G87C:p.R29R,NA,NA,NA,NA,NA,NA
chr16,111834,111834,G,A,P286189_S,RHBDF1,Silent,NM_022450,exon8,c.C1170T,p.S390S,SNP,SNVindel,exonic,RHBDF1,NA,synonymous SNV,RHBDF1:NM_022450:exon8:c.C1170T:p.S390S,NA,NA,NA,NA,NA,NA
chr16,2647712,2647712,A,T,P286189_S,PDPK1,Missense_Mutation,NM_031268,exon11,c.A1234T,p.I412F,SNP,SNVindel,exonic,PDPK1,NA,nonsynonymous SNV,"PDPK1:NM_031268:exon11:c.A1234T:p.I412F,PDPK1:NM_002613:exon14:c.A1615T:p.I539F",D,U,D,T,D,T
chr16,4387431,4387431,T,C,P286189_S,GLIS2,Missense_Mutation,NM_032575,exon6,c.T1481C,p.V494A,SNP,SNVindel,exonic,GLIS2,NA,nonsynonymous SNV,"GLIS2:NM_032575:exon6:c.T1481C:p.V494A,GLIS2:NM_001318918:exon8:c.T1481C:p.V494A",D,D,N,T,N,T
chr16,22545979,22545979,C,G,P286189_S,NPIPB5,Missense_Mutation,NM_001135865,exon7,c.C1675G,p.P559A,SNP,SNVindel,exonic,NPIPB5,NA,nonsynonymous SNV,NPIPB5:NM_001135865:exon7:c.C1675G:p.P559A,D,.,N,T,N,T
chr16,30795146,30795146,T,C,P286189_S,ZNF629,Missense_Mutation,NM_001080417,exon3,c.A503G,p.H168R,SNP,SNVindel,exonic,ZNF629,NA,nonsynonymous SNV,"ZNF629:NM_001080417:exon3:c.A503G:p.H168R,ZNF629:NM_001345970:exon3:c.A461G:p.H154R",D,D,D,D,D,D
chr16,87921834,87921834,C,T,P286189_S,CA5A,Silent,NM_001739,exon7,c.G819A,p.E273E,SNP,SNVindel,exonic,CA5A,NA,synonymous SNV,CA5A:NM_001739:exon7:c.G819A:p.E273E,NA,NA,NA,NA,NA,NA
chr17,7163789,7163789,T,C,P286189_S,CLDN7,Silent,NM_001307,exon4,c.A540G,p.A180A,SNP,SNVindel,exonic,CLDN7,NA,synonymous SNV,"CLDN7:NM_001307:exon4:c.A540G:p.A180A,CLDN7:NM_001185022:exon5:c.A540G:p.A180A",NA,NA,NA,NA,NA,NA
chr17,9830078,9830078,G,A,P286189_S,GAS7,Silent,NM_003644,exon6,c.C474T,p.S158S,SNP,SNVindel,exonic,GAS7,NA,synonymous SNV,"GAS7:NM_003644:exon6:c.C474T:p.S158S,GAS7:NM_001130831:exon10:c.C702T:p.S234S,GAS7:NM_201432:exon10:c.C714T:p.S238S,GAS7:NM_201433:exon10:c.C894T:p.S298S",NA,NA,NA,NA,NA,NA
chr17,26851876,26851876,A,G,P286189_S,FOXN1,Missense_Mutation,NM_003593,exon2,c.A479G,p.E160G,SNP,SNVindel,exonic,FOXN1,NA,nonsynonymous SNV,"FOXN1:NM_003593:exon2:c.A479G:p.E160G,FOXN1:NM_001369369:exon3:c.A479G:p.E160G",T,D,N,D,N,T
chr17,47219484,47219484,C,T,P286189_S,B4GALNT2,Silent,NM_001159387,exon3,c.C303T,p.L101L,SNP,SNVindel,exonic,B4GALNT2,NA,synonymous SNV,"B4GALNT2:NM_001159387:exon3:c.C303T:p.L101L,B4GALNT2:NM_001159388:exon3:c.C225T:p.L75L,B4GALNT2:NM_153446:exon3:c.C483T:p.L161L",NA,NA,NA,NA,NA,NA
chr17,47300034,47300034,G,A,P286189_S,ABI3,Missense_Mutation,NM_001135186,exon8,c.G1040A,p.G347E,SNP,SNVindel,exonic,ABI3,NA,nonsynonymous SNV,"ABI3:NM_001135186:exon8:c.G1040A:p.G347E,ABI3:NM_016428:exon8:c.G1058A:p.G353E",T,N,N,T,N,T
chr17,76568812,76568812,G,C,P286189_S,DNAH17,Missense_Mutation,NM_173628,exon3,c.C510G,p.S170R,SNP,SNVindel,exonic,DNAH17,NA,nonsynonymous SNV,DNAH17:NM_173628:exon3:c.C510G:p.S170R,T,.,N,T,N,T
chr17,78319834,78319834,C,T,P286189_S,RNF213,Missense_Mutation,NM_001256071,exon29,c.C7699T,p.R2567W,SNP,SNVindel,exonic,RNF213,NA,nonsynonymous SNV,RNF213:NM_001256071:exon29:c.C7699T:p.R2567W,D,D,D,T,D,T
chr18,8796349,8796349,G,A,P286189_S,MTCL1,Silent,NM_015210,exon9,c.G2130A,p.E710E,SNP,SNVindel,exonic,MTCL1,NA,synonymous SNV,MTCL1:NM_015210:exon9:c.G2130A:p.E710E,NA,NA,NA,NA,NA,NA
chr19,2757761,2757761,C,T,P286189_S,SGTA,Missense_Mutation,NM_003021,exon10,c.G757A,p.G253S,SNP,SNVindel,exonic,SGTA,NA,nonsynonymous SNV,SGTA:NM_003021:exon10:c.G757A:p.G253S,T,U,D,T,N,T
chr19,7534856,7534856,G,A,P286189_S,ARHGEF18,Missense_Mutation,NM_001130955,exon18,c.G3128A,p.R1043Q,SNP,SNVindel,exonic,ARHGEF18,NA,nonsynonymous SNV,"ARHGEF18:NM_001130955:exon18:c.G3128A:p.R1043Q,ARHGEF18:NM_001367824:exon19:c.G2816A:p.R939Q,ARHGEF18:NM_015318:exon19:c.G2816A:p.R939Q,ARHGEF18:NM_001367823:exon28:c.G3854A:p.R1285Q",D,N,N,T,N,T
chr19,8203433,8203433,G,A,P286189_S,FBN3,Missense_Mutation,NM_001321431,exon9,c.C881T,p.A294V,SNP,SNVindel,exonic,FBN3,NA,nonsynonymous SNV,"FBN3:NM_001321431:exon9:c.C881T:p.A294V,FBN3:NM_032447:exon9:c.C881T:p.A294V",T,U,N,D,N,T
chr19,11453708,11453708,T,C,P286189_S,TMEM205,Missense_Mutation,NM_198536,exon3,c.A353G,p.Q118R,SNP,SNVindel,exonic,TMEM205,NA,nonsynonymous SNV,"TMEM205:NM_198536:exon3:c.A353G:p.Q118R,TMEM205:NM_001145416:exon4:c.A353G:p.Q118R,TMEM205:NM_001321112:exon4:c.A353G:p.Q118R,TMEM205:NM_001321113:exon4:c.A353G:p.Q118R,TMEM205:NM_001321114:exon4:c.A353G:p.Q118R,TMEM205:NM_033408:exon4:c.A353G:p.Q118R",T,U,D,.,N,T
chr19,19115070,19115070,T,C,P286189_S,SUGP2,Missense_Mutation,NM_001017392,exon7,c.A2836G,p.T946A,SNP,SNVindel,exonic,SUGP2,NA,nonsynonymous SNV,"SUGP2:NM_001017392:exon7:c.A2836G:p.T946A,SUGP2:NM_001321697:exon7:c.A2836G:p.T946A,SUGP2:NM_001321698:exon7:c.A2878G:p.T960A,SUGP2:NM_001321699:exon7:c.A2878G:p.T960A,SUGP2:NM_001352071:exon7:c.A2836G:p.T946A,SUGP2:NM_014884:exon7:c.A2836G:p.T946A",T,N,N,T,N,T
chr19,19749111,19749111,C,T,P286189_S,GMIP,Missense_Mutation,NM_001288998,exon9,c.G646A,p.A216T,SNP,SNVindel,exonic,GMIP,NA,nonsynonymous SNV,"GMIP:NM_001288998:exon9:c.G646A:p.A216T,GMIP:NM_001288999:exon9:c.G646A:p.A216T,GMIP:NM_016573:exon9:c.G646A:p.A216T",D,N,D,T,D,T
chr19,38572661,38572661,G,A,P286189_S,SIPA1L3,Silent,NM_015073,exon3,c.G456A,p.Q152Q,SNP,SNVindel,exonic,SIPA1L3,NA,synonymous SNV,SIPA1L3:NM_015073:exon3:c.G456A:p.Q152Q,NA,NA,NA,NA,NA,NA
chr19,51509746,51509746,A,G,P286189_S,KLK9,Missense_Mutation,NM_012315,exon3,c.T434C,p.I145T,SNP,SNVindel,exonic,KLK9,NA,nonsynonymous SNV,KLK9:NM_012315:exon3:c.T434C:p.I145T,.,.,D,D,.,D
chr20,55033439,55033439,C,T,P286189_S,CASS4,Missense_Mutation,NM_001164115,exon5,c.C686T,p.P229L,SNP,SNVindel,exonic,CASS4,NA,nonsynonymous SNV,"CASS4:NM_001164115:exon5:c.C686T:p.P229L,CASS4:NM_001164114:exon6:c.C1835T:p.P612L,CASS4:NM_020356:exon6:c.C1997T:p.P666L,CASS4:NM_001164116:exon7:c.C1997T:p.P666L",D,N,N,T,D,T
chr21,43913121,43913121,C,T,P286189_S,RSPH1,Silent,NM_080860,exon2,c.G123A,p.G41G,SNP,SNVindel,exonic,RSPH1,NA,synonymous SNV,RSPH1:NM_080860:exon2:c.G123A:p.G41G,NA,NA,NA,NA,NA,NA
chr21,45970642,45970642,G,A,P286189_S,KRTAP10-2,Missense_Mutation,NM_198693,exon1,c.C700T,p.L234F,SNP,SNVindel,exonic,KRTAP10-2,NA,nonsynonymous SNV,KRTAP10-2:NM_198693:exon1:c.C700T:p.L234F,D,.,N,T,D,T
chr21,45993651,45993651,A,T,P286189_S,KRTAP10-4,Missense_Mutation,NM_198687,exon1,c.A16T,p.S6C,SNP,SNVindel,exonic,KRTAP10-4,NA,nonsynonymous SNV,KRTAP10-4:NM_198687:exon1:c.A16T:p.S6C,D,.,D,T,D,T
chr22,26299742,26299742,C,T,P286189_S,MYO18B,Missense_Mutation,NM_001318245,exon31,c.C5095T,p.L1699F,SNP,SNVindel,exonic,MYO18B,NA,nonsynonymous SNV,"MYO18B:NM_001318245:exon31:c.C5095T:p.L1699F,MYO18B:NM_032608:exon31:c.C5092T:p.L1698F",D,N,N,D,N,T
chr22,41634440,41634440,G,C,P286189_S,CHADL,Missense_Mutation,NM_138481,exon3,c.C636G,p.S212R,SNP,SNVindel,exonic,CHADL,NA,nonsynonymous SNV,CHADL:NM_138481:exon3:c.C636G:p.S212R,T,D,D,T,N,T
chrX,27839539,27839539,C,T,P286189_S,MAGEB10,Missense_Mutation,NM_182506,exon3,c.C116T,p.P39L,SNP,SNVindel,exonic,MAGEB10,NA,nonsynonymous SNV,MAGEB10:NM_182506:exon3:c.C116T:p.P39L,T,.,N,T,D,T
chrX,53239872,53239872,A,C,P286189_S,KDM5C,Missense_Mutation,NM_001146702,exon9,c.T1368G,p.I456M,SNP,SNVindel,exonic,KDM5C,NA,nonsynonymous SNV,"KDM5C:NM_001146702:exon9:c.T1368G:p.I456M,KDM5C:NM_001282622:exon11:c.T1566G:p.I522M,KDM5C:NM_001353978:exon11:c.T1569G:p.I523M,KDM5C:NM_001353979:exon11:c.T1566G:p.I522M,KDM5C:NM_001353981:exon11:c.T1569G:p.I523M,KDM5C:NM_001353982:exon11:c.T1566G:p.I522M,KDM5C:NM_001353984:exon11:c.T1569G:p.I523M,KDM5C:NM_004187:exon11:c.T1569G:p.I523M",D,D,D,T,D,D
chrX,71353941,71353941,A,C,P286189_S,NHSL2,Missense_Mutation,NM_001013627,exon3,c.A437C,p.E146A,SNP,SNVindel,exonic,NHSL2,NA,nonsynonymous SNV,NHSL2:NM_001013627:exon3:c.A437C:p.E146A,NA,NA,NA,NA,NA,NA
chr1,11591668,11591668,G,A,P286189_T,DISP3,Silent,NM_020780,exon17,c.G3276A,p.K1092K,SNP,SNVindel,exonic,DISP3,NA,synonymous SNV,DISP3:NM_020780:exon17:c.G3276A:p.K1092K,NA,NA,NA,NA,NA,NA
chr1,16891333,16891333,C,T,P286189_T,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,21937992,21937992,A,G,P286189_T,RAP1GAP,Missense_Mutation,NM_001145658,exon13,c.T988C,p.F330L,SNP,SNVindel,exonic,RAP1GAP,NA,nonsynonymous SNV,"RAP1GAP:NM_001145658:exon13:c.T988C:p.F330L,RAP1GAP:NM_002885:exon13:c.T796C:p.F266L,RAP1GAP:NM_001145657:exon14:c.T796C:p.F266L,RAP1GAP:NM_001330383:exon14:c.T796C:p.F266L,RAP1GAP:NM_001350524:exon15:c.T796C:p.F266L,RAP1GAP:NM_001350525:exon15:c.T796C:p.F266L,RAP1GAP:NM_001350527:exon15:c.T796C:p.F266L,RAP1GAP:NM_001350528:exon15:c.T796C:p.F266L,RAP1GAP:NM_001350526:exon16:c.T796C:p.F266L",D,D,D,D,D,D
chr1,39766003,39766003,T,C,P286189_T,MACF1,Missense_Mutation,NM_012090,exon21,c.T2618C,p.V873A,SNP,SNVindel,exonic,MACF1,NA,nonsynonymous SNV,MACF1:NM_012090:exon21:c.T2618C:p.V873A,D,.,N,T,D,D
chr1,43889936,43889936,G,T,P286189_T,SZT2,Missense_Mutation,NM_001365999,exon16,c.G2304T,p.L768F,SNP,SNVindel,exonic,SZT2,NA,nonsynonymous SNV,"SZT2:NM_001365999:exon16:c.G2304T:p.L768F,SZT2:NM_015284:exon16:c.G2304T:p.L768F",D,.,D,.,N,.
chr1,46073330,46073330,T,C,P286189_T,NASP,Silent,NM_001195193,exon4,c.T555C,p.D185D,SNP,SNVindel,exonic,NASP,NA,synonymous SNV,"NASP:NM_001195193:exon4:c.T555C:p.D185D,NASP:NM_002482:exon6:c.T747C:p.D249D",NA,NA,NA,NA,NA,NA
chr1,52486681,52486681,A,C,P286189_T,TXNDC12,Missense_Mutation,NM_015913,exon7,c.T443G,p.V148G,SNP,SNVindel,exonic,TXNDC12,NA,nonsynonymous SNV,TXNDC12:NM_015913:exon7:c.T443G:p.V148G,D,N,D,T,D,T
chr1,54511453,54511453,G,A,P286189_T,TMEM59,Missense_Mutation,NM_001305043,exon3,c.C302T,p.T101I,SNP,SNVindel,exonic,TMEM59,NA,nonsynonymous SNV,"TMEM59:NM_001305043:exon3:c.C302T:p.T101I,TMEM59:NM_001305066:exon3:c.C302T:p.T101I,TMEM59:NM_004872:exon3:c.C302T:p.T101I",T,N,D,T,N,T
chr1,92181817,92181817,T,A,P286189_T,TGFBR3,Silent,NM_001195683,exon12,c.A1839T,p.P613P,SNP,SNVindel,exonic,TGFBR3,NA,synonymous SNV,"TGFBR3:NM_001195683:exon12:c.A1839T:p.P613P,TGFBR3:NM_003243:exon12:c.A1842T:p.P614P,TGFBR3:NM_001195684:exon13:c.A1839T:p.P613P",NA,NA,NA,NA,NA,NA
chr1,111854850,111854850,G,A,P286189_T,CHIA,Missense_Mutation,NM_201653,exon4,c.G94A,p.A32T,SNP,SNVindel,exonic,CHIA,NA,nonsynonymous SNV,CHIA:NM_201653:exon4:c.G94A:p.A32T,D,U,D,T,N,T
chr1,144621504,144621504,T,G,P286189_T,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,155020562,155020562,C,A,P286189_T,DCST1,Nonsense_Mutation,NM_001143687,exon15,c.C1710A,p.Y570X,SNP,SNVindel,exonic,DCST1,NA,stopgain,"DCST1:NM_001143687:exon15:c.C1710A:p.Y570X,DCST1:NM_152494:exon16:c.C1785A:p.Y595X",.,D,A,.,.,.
chr1,179820044,179820044,A,G,P286189_T,TOR1AIP2,Silent,NM_001349936,exon4,c.T489C,p.S163S,SNP,SNVindel,exonic,TOR1AIP2,NA,synonymous SNV,"TOR1AIP2:NM_001349936:exon4:c.T489C:p.S163S,TOR1AIP2:NM_145034:exon4:c.T489C:p.S163S,TOR1AIP2:NM_001199260:exon5:c.T489C:p.S163S,TOR1AIP2:NM_001349934:exon5:c.T489C:p.S163S,TOR1AIP2:NM_001349937:exon5:c.T489C:p.S163S,TOR1AIP2:NM_001349935:exon6:c.T489C:p.S163S",NA,NA,NA,NA,NA,NA
chr1,197480968,197480968,C,T,P286189_T,DENND1B,Missense_Mutation,NM_001195215,exon22,c.G1705A,p.G569R,SNP,SNVindel,exonic,DENND1B,NA,nonsynonymous SNV,DENND1B:NM_001195215:exon22:c.G1705A:p.G569R,T,U,.,T,N,T
chr1,200978003,200978003,G,A,P286189_T,KIF21B,Missense_Mutation,NM_001252100,exon3,c.C341T,p.P114L,SNP,SNVindel,exonic,KIF21B,NA,nonsynonymous SNV,"KIF21B:NM_001252100:exon3:c.C341T:p.P114L,KIF21B:NM_001252102:exon3:c.C341T:p.P114L,KIF21B:NM_001252103:exon3:c.C341T:p.P114L,KIF21B:NM_017596:exon3:c.C341T:p.P114L",D,D,D,T,D,D
chr2,11355044,11355044,A,G,P286189_T,ROCK2,Missense_Mutation,NM_001321643,exon16,c.T1600C,p.F534L,SNP,SNVindel,exonic,ROCK2,NA,nonsynonymous SNV,"ROCK2:NM_001321643:exon16:c.T1600C:p.F534L,ROCK2:NM_004850:exon16:c.T1858C:p.F620L",T,D,N,T,N,T
chr2,26596494,26596494,G,A,P286189_T,SELENOI,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SELENOI,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr2,31610725,31610725,G,T,P286189_T,XDH,Missense_Mutation,NM_000379,exon8,c.C603A,p.F201L,SNP,SNVindel,exonic,XDH,NA,nonsynonymous SNV,XDH:NM_000379:exon8:c.C603A:p.F201L,D,D,D,T,D,T
chr2,37873391,37873391,C,T,P286189_T,CDC42EP3,Missense_Mutation,NM_001270436,exon2,c.G340A,p.G114R,SNP,SNVindel,exonic,CDC42EP3,NA,nonsynonymous SNV,"CDC42EP3:NM_001270436:exon2:c.G340A:p.G114R,CDC42EP3:NM_001270437:exon2:c.G340A:p.G114R,CDC42EP3:NM_001270438:exon2:c.G340A:p.G114R,CDC42EP3:NM_006449:exon2:c.G340A:p.G114R",D,D,D,T,D,T
chr2,44507931,44507931,C,T,P286189_T,SLC3A1,Silent,NM_000341,exon2,c.C507T,p.S169S,SNP,SNVindel,exonic,SLC3A1,NA,synonymous SNV,SLC3A1:NM_000341:exon2:c.C507T:p.S169S,NA,NA,NA,NA,NA,NA
chr2,99443467,99443467,G,T,P286189_T,KIAA1211L,Silent,NM_207362,exon6,c.C706A,p.R236R,SNP,SNVindel,exonic,KIAA1211L,NA,synonymous SNV,KIAA1211L:NM_207362:exon6:c.C706A:p.R236R,NA,NA,NA,NA,NA,NA
chr2,103414424,103414424,T,C,P286189_T,TMEM182,Missense_Mutation,NM_001321345,exon4,c.T146C,p.L49P,SNP,SNVindel,exonic,TMEM182,NA,nonsynonymous SNV,"TMEM182:NM_001321345:exon4:c.T146C:p.L49P,TMEM182:NM_144632:exon4:c.T434C:p.L145P,TMEM182:NM_001321344:exon5:c.T305C:p.L102P,TMEM182:NM_001321343:exon6:c.T305C:p.L102P",D,D,D,T,D,D
chr2,111411073,111411073,T,A,P286189_T,BUB1,Missense_Mutation,NM_001278616,exon16,c.A1844T,p.Q615L,SNP,SNVindel,exonic,BUB1,NA,nonsynonymous SNV,"BUB1:NM_001278616:exon16:c.A1844T:p.Q615L,BUB1:NM_001278617:exon17:c.A1904T:p.Q635L,BUB1:NM_004336:exon17:c.A1904T:p.Q635L",T,N,N,T,N,T
chr2,155711766,155711766,A,G,P286189_T,KCNJ3,Missense_Mutation,NM_002239,exon3,c.A1447G,p.R483G,SNP,SNVindel,exonic,KCNJ3,NA,nonsynonymous SNV,KCNJ3:NM_002239:exon3:c.A1447G:p.R483G,D,D,D,D,N,D
chr2,179472564,179472564,T,C,P286189_T,TTN,Silent,NM_003319,exon104,c.A25755G,p.A8585A,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon104:c.A25755G:p.A8585A,TTN:NM_133432:exon105:c.A26130G:p.A8710A,TTN:NM_133437:exon105:c.A26331G:p.A8777A,TTN:NM_133378:exon225:c.A45246G:p.A15082A,TTN:NM_001256850:exon226:c.A48027G:p.A16009A,TTN:NM_001267550:exon276:c.A52950G:p.A17650A",NA,NA,NA,NA,NA,NA
chr2,186659368,186659368,C,A,P286189_T,FSIP2,Missense_Mutation,NM_173651,exon16,c.C7505A,p.T2502K,SNP,SNVindel,exonic,FSIP2,NA,nonsynonymous SNV,FSIP2:NM_173651:exon16:c.C7505A:p.T2502K,T,.,N,T,N,T
chr2,219855661,219855661,T,A,P286189_T,CRYBA2,Missense_Mutation,NM_057093,exon3,c.A359T,p.K120M,SNP,SNVindel,exonic,CRYBA2,NA,nonsynonymous SNV,"CRYBA2:NM_057093:exon3:c.A359T:p.K120M,CRYBA2:NM_057094:exon4:c.A359T:p.K120M",D,N,D,T,D,T
chr2,228104881,228104881,C,T,P286189_T,COL4A3,Missense_Mutation,NM_000091,exon3,c.C167T,p.P56L,SNP,SNVindel,exonic,COL4A3,NA,nonsynonymous SNV,COL4A3:NM_000091:exon3:c.C167T:p.P56L,T,N,D,D,N,D
chr2,240946766,240946766,T,C,P286189_T,NDUFA10,Silent,NM_001322019,exon7,c.A771G,p.Q257Q,SNP,SNVindel,exonic,NDUFA10,NA,synonymous SNV,"NDUFA10:NM_001322019:exon7:c.A771G:p.Q257Q,NDUFA10:NM_001322020:exon7:c.A771G:p.Q257Q,NDUFA10:NM_004544:exon7:c.A771G:p.Q257Q",D,.,P,D,N,T
chr3,1262469,1262469,G,A,P286189_T,CNTN6,Missense_Mutation,NM_001289080,exon3,c.G154A,p.A52T,SNP,SNVindel,exonic,CNTN6,NA,nonsynonymous SNV,"CNTN6:NM_001289080:exon3:c.G154A:p.A52T,CNTN6:NM_001349356:exon3:c.G154A:p.A52T,CNTN6:NM_001349357:exon3:c.G154A:p.A52T,CNTN6:NM_014461:exon3:c.G154A:p.A52T,CNTN6:NM_001349352:exon4:c.G154A:p.A52T,CNTN6:NM_001349353:exon4:c.G154A:p.A52T,CNTN6:NM_001349354:exon4:c.G154A:p.A52T,CNTN6:NM_001349355:exon4:c.G154A:p.A52T,CNTN6:NM_001349350:exon5:c.G154A:p.A52T,CNTN6:NM_001349351:exon5:c.G154A:p.A52T,CNTN6:NM_001349358:exon5:c.G154A:p.A52T",D,D,D,T,D,D
chr3,10391801,10391801,A,G,P286189_T,ATP2B2,Missense_Mutation,NM_001330611,exon13,c.T2264C,p.V755A,SNP,SNVindel,exonic,ATP2B2,NA,nonsynonymous SNV,"ATP2B2:NM_001330611:exon13:c.T2264C:p.V755A,ATP2B2:NM_001363862:exon13:c.T2264C:p.V755A,ATP2B2:NM_001683:exon13:c.T2264C:p.V755A,ATP2B2:NM_001353564:exon14:c.T2264C:p.V755A,ATP2B2:NM_001001331:exon16:c.T2399C:p.V800A",D,D,D,D,D,D
chr3,38035851,38035851,T,A,P286189_T,VILL,Missense_Mutation,NM_015873,exon3,c.T235A,p.F79I,SNP,SNVindel,exonic,VILL,NA,nonsynonymous SNV,VILL:NM_015873:exon3:c.T235A:p.F79I,D,D,D,T,D,T
chr3,38035852,38035852,T,A,P286189_T,VILL,Missense_Mutation,NM_015873,exon3,c.T236A,p.F79Y,SNP,SNVindel,exonic,VILL,NA,nonsynonymous SNV,VILL:NM_015873:exon3:c.T236A:p.F79Y,T,D,D,T,N,T
chr3,42827598,42827598,C,T,P286189_T,HIGD1A,Missense_Mutation,NM_001099668,exon3,c.G196A,p.G66R,SNP,SNVindel,exonic,HIGD1A,NA,nonsynonymous SNV,"HIGD1A:NM_001099668:exon3:c.G196A:p.G66R,HIGD1A:NM_001099669:exon3:c.G154A:p.G52R,HIGD1A:NM_014056:exon3:c.G154A:p.G52R",T,D,D,T,D,T
chr3,78685060,78685060,A,G,P286189_T,ROBO1,Missense_Mutation,NM_001145845,exon21,c.T2936C,p.I979T,SNP,SNVindel,exonic,ROBO1,NA,nonsynonymous SNV,"ROBO1:NM_001145845:exon21:c.T2936C:p.I979T,ROBO1:NM_133631:exon21:c.T3101C:p.I1034T,ROBO1:NM_002941:exon23:c.T3236C:p.I1079T",D,D,D,T,N,T
chr3,111719702,111719702,G,T,P286189_T,TAGLN3,Missense_Mutation,NM_001008273,exon2,c.G264T,p.K88N,SNP,SNVindel,exonic,TAGLN3,NA,nonsynonymous SNV,"TAGLN3:NM_001008273:exon2:c.G264T:p.K88N,TAGLN3:NM_001008272:exon3:c.G264T:p.K88N,TAGLN3:NM_013259:exon3:c.G264T:p.K88N",D,D,D,T,D,D
chr3,168812971,168812971,A,G,P286189_T,MECOM,Missense_Mutation,NM_001163999,exon11,c.T2324C,p.I775T,SNP,SNVindel,exonic,MECOM,NA,nonsynonymous SNV,"MECOM:NM_001163999:exon11:c.T2324C:p.I775T,MECOM:NM_001164000:exon11:c.T2321C:p.I774T,MECOM:NM_001366470:exon11:c.T2324C:p.I775T,MECOM:NM_001366471:exon11:c.T2321C:p.I774T,MECOM:NM_001366472:exon11:c.T2321C:p.I774T,MECOM:NM_001366474:exon11:c.T1349C:p.I450T,MECOM:NM_001105078:exon12:c.T2348C:p.I783T,MECOM:NM_001205194:exon12:c.T2348C:p.I783T,MECOM:NM_001366466:exon12:c.T2885C:p.I962T,MECOM:NM_001366467:exon12:c.T2351C:p.I784T,MECOM:NM_001366468:exon12:c.T2351C:p.I784T,MECOM:NM_001366469:exon12:c.T2348C:p.I783T,MECOM:NM_001366473:exon12:c.T1913C:p.I638T,MECOM:NM_005241:exon12:c.T2348C:p.I783T,MECOM:NM_001105077:exon13:c.T2543C:p.I848T,MECOM:NM_004991:exon13:c.T2912C:p.I971T",D,D,D,T,D,T
chr3,185146668,185146668,G,A,P286189_T,MAP3K13,Missense_Mutation,NM_004721,exon2,c.G299A,p.G100E,SNP,SNVindel,exonic,MAP3K13,NA,nonsynonymous SNV,"MAP3K13:NM_004721:exon2:c.G299A:p.G100E,MAP3K13:NM_001242314:exon3:c.G299A:p.G100E",D,N,D,T,D,T
chr3,196744121,196744121,C,T,P286189_T,MELTF,Silent,NM_005929,exon7,c.G753A,p.Q251Q,SNP,SNVindel,exonic,MELTF,NA,synonymous SNV,MELTF:NM_005929:exon7:c.G753A:p.Q251Q,NA,NA,NA,NA,NA,NA
chr3,197665567,197665567,T,C,P286189_T,IQCG,Missense_Mutation,NM_001134435,exon4,c.A367G,p.I123V,SNP,SNVindel,exonic,IQCG,NA,nonsynonymous SNV,"IQCG:NM_001134435:exon4:c.A367G:p.I123V,IQCG:NM_001323027:exon4:c.A367G:p.I123V,IQCG:NM_001323028:exon4:c.A310G:p.I104V,IQCG:NM_001323029:exon5:c.A73G:p.I25V,IQCG:NM_001323030:exon5:c.A367G:p.I123V,IQCG:NM_032263:exon5:c.A367G:p.I123V",T,N,N,T,N,T
chr4,3444832,3444832,G,T,P286189_T,HGFAC,Missense_Mutation,NM_001297439,exon3,c.G354T,p.M118I,SNP,SNVindel,exonic,HGFAC,NA,nonsynonymous SNV,"HGFAC:NM_001297439:exon3:c.G354T:p.M118I,HGFAC:NM_001528:exon3:c.G354T:p.M118I",T,U,N,T,N,T
chr4,13616107,13616107,T,A,P286189_T,BOD1L1,Missense_Mutation,NM_148894,exon4,c.A887T,p.E296V,SNP,SNVindel,exonic,BOD1L1,NA,nonsynonymous SNV,BOD1L1:NM_148894:exon4:c.A887T:p.E296V,T,D,D,T,D,T
chr4,71693591,71693591,A,T,P286189_T,GRSF1,Silent,NM_001098477,exon6,c.T627A,p.A209A,SNP,SNVindel,exonic,GRSF1,NA,synonymous SNV,"GRSF1:NM_001098477:exon6:c.T627A:p.A209A,GRSF1:NM_002092:exon6:c.T1113A:p.A371A",NA,NA,NA,NA,NA,NA
chr4,85657431,85657431,T,C,P286189_T,WDFY3,Silent,NM_014991,exon42,c.A6807G,p.T2269T,SNP,SNVindel,exonic,WDFY3,NA,synonymous SNV,WDFY3:NM_014991:exon42:c.A6807G:p.T2269T,NA,NA,NA,NA,NA,NA
chr4,120488273,120488273,G,A,P286189_T,PDE5A,Silent,NM_001083,exon4,c.C858T,p.N286N,SNP,SNVindel,exonic,PDE5A,NA,synonymous SNV,"PDE5A:NM_001083:exon4:c.C858T:p.N286N,PDE5A:NM_033430:exon4:c.C732T:p.N244N,PDE5A:NM_033437:exon4:c.C702T:p.N234N",NA,NA,NA,NA,NA,NA
chr4,166021790,166021790,T,C,P286189_T,TMEM192,Missense_Mutation,NM_001100389,exon3,c.A429G,p.I143M,SNP,SNVindel,exonic,TMEM192,NA,nonsynonymous SNV,TMEM192:NM_001100389:exon3:c.A429G:p.I143M,D,N,N,.,N,T
chr4,187197031,187197031,C,T,P286189_T,F11,Silent,NM_000128,exon6,c.C576T,p.S192S,SNP,SNVindel,exonic,F11,NA,synonymous SNV,F11:NM_000128:exon6:c.C576T:p.S192S,NA,NA,NA,NA,NA,NA
chr5,483466,483466,C,A,P286189_T,SLC9A3,Missense_Mutation,NM_001284351,exon6,c.G1064T,p.G355V,SNP,SNVindel,exonic,SLC9A3,NA,nonsynonymous SNV,"SLC9A3:NM_001284351:exon6:c.G1064T:p.G355V,SLC9A3:NM_004174:exon6:c.G1064T:p.G355V",D,D,D,T,D,D
chr5,36608672,36608672,T,C,P286189_T,SLC1A3,Silent,NM_001166695,exon2,c.T147C,p.A49A,SNP,SNVindel,exonic,SLC1A3,NA,synonymous SNV,"SLC1A3:NM_001166695:exon2:c.T147C:p.A49A,SLC1A3:NM_001166696:exon2:c.T147C:p.A49A,SLC1A3:NM_001289939:exon2:c.T147C:p.A49A,SLC1A3:NM_001289940:exon2:c.T147C:p.A49A,SLC1A3:NM_004172:exon2:c.T147C:p.A49A",NA,NA,NA,NA,NA,NA
chr5,67569800,67569800,G,C,P286189_T,PIK3R1,Missense_Mutation,NM_181523,exon4,c.G461C,p.S154T,SNP,SNVindel,exonic,PIK3R1,NA,nonsynonymous SNV,PIK3R1:NM_181523:exon4:c.G461C:p.S154T,T,D,D,T,N,T
chr5,72302294,72302294,C,G,P286189_T,FCHO2,Missense_Mutation,NM_001146032,exon6,c.C518G,p.A173G,SNP,SNVindel,exonic,FCHO2,NA,nonsynonymous SNV,"FCHO2:NM_001146032:exon6:c.C518G:p.A173G,FCHO2:NM_138782:exon6:c.C518G:p.A173G",D,D,D,T,N,T
chr5,96127894,96127894,C,T,P286189_T,ERAP1,Missense_Mutation,NM_001040458,exon8,c.G1190A,p.G397E,SNP,SNVindel,exonic,ERAP1,NA,nonsynonymous SNV,"ERAP1:NM_001040458:exon8:c.G1190A:p.G397E,ERAP1:NM_001198541:exon8:c.G1190A:p.G397E,ERAP1:NM_001349244:exon8:c.G1190A:p.G397E,ERAP1:NM_016442:exon8:c.G1190A:p.G397E",T,N,N,T,N,T
chr5,123979359,123979359,C,A,P286189_T,ZNF608,Nonsense_Mutation,NM_020747,exon6,c.G4141T,p.G1381X,SNP,SNVindel,exonic,ZNF608,NA,stopgain,ZNF608:NM_020747:exon6:c.G4141T:p.G1381X,.,D,A,.,.,.
chr5,123979360,123979360,T,C,P286189_T,ZNF608,Silent,NM_020747,exon6,c.A4140G,p.P1380P,SNP,SNVindel,exonic,ZNF608,NA,synonymous SNV,ZNF608:NM_020747:exon6:c.A4140G:p.P1380P,NA,NA,NA,NA,NA,NA
chr5,139742618,139742618,C,T,P286189_T,SLC4A9,Missense_Mutation,NM_001258426,exon7,c.C929T,p.P310L,SNP,SNVindel,exonic,SLC4A9,NA,nonsynonymous SNV,"SLC4A9:NM_001258426:exon7:c.C929T:p.P310L,SLC4A9:NM_001258427:exon7:c.C929T:p.P310L,SLC4A9:NM_001258428:exon7:c.C1001T:p.P334L,SLC4A9:NM_031467:exon7:c.C929T:p.P310L",D,N,D,T,D,T
chr5,177673429,177673429,T,A,P286189_T,COL23A1,Missense_Mutation,NM_173465,exon23,c.A1322T,p.K441M,SNP,SNVindel,exonic,COL23A1,NA,nonsynonymous SNV,COL23A1:NM_173465:exon23:c.A1322T:p.K441M,D,N,D,D,N,D
chr5,180046674,180046674,T,C,P286189_T,FLT4,Missense_Mutation,NM_001354989,exon18,c.A2638G,p.M880V,SNP,SNVindel,exonic,FLT4,NA,nonsynonymous SNV,"FLT4:NM_001354989:exon18:c.A2638G:p.M880V,FLT4:NM_002020:exon18:c.A2638G:p.M880V,FLT4:NM_182925:exon18:c.A2638G:p.M880V",D,.,D,D,D,D
chr6,26197362,26197362,G,A,P286189_T,HIST1H3D,Silent,NM_003530,exon2,c.C117T,p.P39P,SNP,SNVindel,exonic,HIST1H3D,NA,synonymous SNV,HIST1H3D:NM_003530:exon2:c.C117T:p.P39P,NA,NA,NA,NA,NA,NA
chr6,28213605,28213605,T,C,P286189_T,ZKSCAN4,Silent,NM_001304506,exon5,c.A462G,p.R154R,SNP,SNVindel,exonic,ZKSCAN4,NA,synonymous SNV,"ZKSCAN4:NM_001304506:exon5:c.A462G:p.R154R,ZKSCAN4:NM_019110:exon5:c.A927G:p.R309R",NA,NA,NA,NA,NA,NA
chr6,41617444,41617444,C,T,P286189_T,MDFI,Missense_Mutation,NM_001300805,exon3,c.C164T,p.A55V,SNP,SNVindel,exonic,MDFI,NA,nonsynonymous SNV,"MDFI:NM_001300805:exon3:c.C164T:p.A55V,MDFI:NM_001300806:exon3:c.C347T:p.A116V,MDFI:NM_005586:exon4:c.C347T:p.A116V,MDFI:NM_001300804:exon5:c.C347T:p.A116V",T,N,N,.,N,T
chr6,42631072,42631072,A,C,P286189_T,UBR2,Missense_Mutation,NM_001363705,exon32,c.A3613C,p.N1205H,SNP,SNVindel,exonic,UBR2,NA,nonsynonymous SNV,"UBR2:NM_001363705:exon32:c.A3613C:p.N1205H,UBR2:NM_015255:exon32:c.A3613C:p.N1205H",D,D,D,T,D,T
chr6,47681710,47681710,A,G,P286189_T,ADGRF4,Silent,NM_001347855,exon6,c.A729G,p.K243K,SNP,SNVindel,exonic,ADGRF4,NA,synonymous SNV,"ADGRF4:NM_001347855:exon6:c.A729G:p.K243K,ADGRF4:NM_153838:exon6:c.A729G:p.K243K",NA,NA,NA,NA,NA,NA
chr6,47681711,47681711,G,T,P286189_T,ADGRF4,Missense_Mutation,NM_001347855,exon6,c.G730T,p.G244W,SNP,SNVindel,exonic,ADGRF4,NA,nonsynonymous SNV,"ADGRF4:NM_001347855:exon6:c.G730T:p.G244W,ADGRF4:NM_153838:exon6:c.G730T:p.G244W",D,D,D,T,D,T
chr6,82925904,82925904,A,G,P286189_T,IBTK,Missense_Mutation,NM_001300906,exon11,c.T1490C,p.V497A,SNP,SNVindel,exonic,IBTK,NA,nonsynonymous SNV,"IBTK:NM_001300906:exon11:c.T1490C:p.V497A,IBTK:NM_015525:exon11:c.T1490C:p.V497A",T,N,N,T,N,T
chr6,85448256,85448256,C,T,P286189_T,TBX18,Missense_Mutation,NM_001080508,exon7,c.G1058A,p.R353Q,SNP,SNVindel,exonic,TBX18,NA,nonsynonymous SNV,TBX18:NM_001080508:exon7:c.G1058A:p.R353Q,D,D,D,D,N,D
chr6,138754581,138754581,T,C,P286189_T,NHSL1,Missense_Mutation,NM_020464,exon5,c.A913G,p.M305V,SNP,SNVindel,exonic,NHSL1,NA,nonsynonymous SNV,"NHSL1:NM_020464:exon5:c.A913G:p.M305V,NHSL1:NM_001144060:exon6:c.A901G:p.M301V",D,D,D,T,N,T
chr7,2686508,2686508,G,A,P286189_T,TTYH3,Missense_Mutation,NM_025250,exon2,c.G145A,p.A49T,SNP,SNVindel,exonic,TTYH3,NA,nonsynonymous SNV,TTYH3:NM_025250:exon2:c.G145A:p.A49T,T,N,N,T,N,T
chr7,23300367,23300367,A,G,P286189_T,GPNMB,Silent,NM_001005340,exon6,c.A993G,p.R331R,SNP,SNVindel,exonic,GPNMB,NA,synonymous SNV,"GPNMB:NM_001005340:exon6:c.A993G:p.R331R,GPNMB:NM_002510:exon6:c.A993G:p.R331R",NA,NA,NA,NA,NA,NA
chr7,44046934,44046934,G,A,P286189_T,SPDYE1,Missense_Mutation,NM_175064,exon5,c.G700A,p.G234R,SNP,SNVindel,exonic,SPDYE1,NA,nonsynonymous SNV,SPDYE1:NM_175064:exon5:c.G700A:p.G234R,D,N,N,.,D,T
chr7,86468846,86468846,G,T,P286189_T,GRM3,Silent,NM_000840,exon4,c.G2016T,p.G672G,SNP,SNVindel,exonic,GRM3,NA,synonymous SNV,GRM3:NM_000840:exon4:c.G2016T:p.G672G,NA,NA,NA,NA,NA,NA
chr7,126173656,126173656,C,A,P286189_T,GRM8,Nonsense_Mutation,NM_001371087,exon8,c.G1165T,p.G389X,SNP,SNVindel,exonic,GRM8,NA,stopgain,"GRM8:NM_001371087:exon8:c.G1165T:p.G389X,GRM8:NM_000845:exon9:c.G1780T:p.G594X,GRM8:NM_001127323:exon9:c.G1780T:p.G594X,GRM8:NM_001371084:exon9:c.G1780T:p.G594X,GRM8:NM_001371085:exon9:c.G1780T:p.G594X,GRM8:NM_001371086:exon9:c.G1780T:p.G594X,GRM8:NM_001371083:exon10:c.G1780T:p.G594X",.,D,A,.,.,.
chr7,128358941,128358941,T,A,P286189_T,FAM71F1,Missense_Mutation,NM_001282788,exon3,c.T491A,p.L164Q,SNP,SNVindel,exonic,FAM71F1,NA,nonsynonymous SNV,"FAM71F1:NM_001282788:exon3:c.T491A:p.L164Q,FAM71F1:NM_032599:exon3:c.T491A:p.L164Q",D,D,D,T,D,T
chr8,10102623,10102623,G,A,P286189_T,MSRA,Missense_Mutation,NM_001135671,exon3,c.G92A,p.C31Y,SNP,SNVindel,exonic,MSRA,NA,nonsynonymous SNV,"MSRA:NM_001135671:exon3:c.G92A:p.C31Y,MSRA:NM_012331:exon3:c.G221A:p.C74Y,MSRA:NM_001199729:exon4:c.G23A:p.C8Y",D,D,D,.,D,D
chr8,10464861,10464861,T,G,P286189_T,RP1L1,Missense_Mutation,NM_178857,exon4,c.A6747C,p.K2249N,SNP,SNVindel,exonic,RP1L1,NA,nonsynonymous SNV,RP1L1:NM_178857:exon4:c.A6747C:p.K2249N,D,U,N,T,N,T
chr8,110509276,110509276,G,A,P286189_T,PKHD1L1,Missense_Mutation,NM_177531,exon64,c.G10456A,p.D3486N,SNP,SNVindel,exonic,PKHD1L1,NA,nonsynonymous SNV,PKHD1L1:NM_177531:exon64:c.G10456A:p.D3486N,D,D,D,T,N,D
chr8,110587278,110587278,G,A,P286189_T,SYBU,Missense_Mutation,NM_001330596,exon5,c.C1459T,p.P487S,SNP,SNVindel,exonic,SYBU,NA,nonsynonymous SNV,"SYBU:NM_001330596:exon5:c.C1459T:p.P487S,SYBU:NM_001363032:exon5:c.C1360T:p.P454S,SYBU:NM_001099746:exon6:c.C1492T:p.P498S,SYBU:NM_001099749:exon6:c.C1492T:p.P498S,SYBU:NM_001099755:exon6:c.C1492T:p.P498S,SYBU:NM_001099756:exon6:c.C1840T:p.P614S,SYBU:NM_001099753:exon7:c.C1846T:p.P616S,SYBU:NM_001099754:exon7:c.C1849T:p.P617S,SYBU:NM_001099743:exon8:c.C1846T:p.P616S,SYBU:NM_001099744:exon8:c.C1849T:p.P617S,SYBU:NM_001099745:exon8:c.C1849T:p.P617S,SYBU:NM_001099747:exon8:c.C1846T:p.P616S,SYBU:NM_001099748:exon8:c.C1849T:p.P617S,SYBU:NM_001099751:exon8:c.C1846T:p.P616S,SYBU:NM_001099752:exon8:c.C1849T:p.P617S,SYBU:NM_001099750:exon9:c.C1849T:p.P617S,SYBU:NM_017786:exon9:c.C1846T:p.P616S",D,D,D,.,D,D
chr8,124340618,124340618,T,C,P286189_T,ATAD2,Missense_Mutation,NM_014109,exon25,c.A3680G,p.E1227G,SNP,SNVindel,exonic,ATAD2,NA,nonsynonymous SNV,ATAD2:NM_014109:exon25:c.A3680G:p.E1227G,T,U,N,D,N,T
chr8,125047669,125047669,A,G,P286189_T,FER1L6,Missense_Mutation,NM_001039112,exon19,c.A2438G,p.H813R,SNP,SNVindel,exonic,FER1L6,NA,nonsynonymous SNV,FER1L6:NM_001039112:exon19:c.A2438G:p.H813R,T,U,N,T,N,T
chr8,141294098,141294098,A,G,P286189_T,TRAPPC9,Silent,NM_001321646,exon13,c.T1977C,p.G659G,SNP,SNVindel,exonic,TRAPPC9,NA,synonymous SNV,"TRAPPC9:NM_001321646:exon13:c.T1977C:p.G659G,TRAPPC9:NM_001160372:exon14:c.T2004C:p.G668G,TRAPPC9:NM_031466:exon14:c.T2298C:p.G766G",NA,NA,NA,NA,NA,NA
chr9,32480242,32480242,C,T,P286189_T,DDX58,Silent,NM_014314,exon12,c.G1749A,p.E583E,SNP,SNVindel,exonic,DDX58,NA,synonymous SNV,DDX58:NM_014314:exon12:c.G1749A:p.E583E,NA,NA,NA,NA,NA,NA
chr9,37592358,37592358,C,T,P286189_T,TOMM5,Missense_Mutation,NM_001134484,exon1,c.G172A,p.G58R,SNP,SNVindel,exonic,TOMM5,NA,nonsynonymous SNV,"TOMM5:NM_001134484:exon1:c.G172A:p.G58R,TOMM5:NM_001134485:exon1:c.G172A:p.G58R",T,N,N,.,N,T
chr9,88272415,88272415,T,C,P286189_T,AGTPBP1,Missense_Mutation,NM_001286715,exon9,c.A1000G,p.I334V,SNP,SNVindel,exonic,AGTPBP1,NA,nonsynonymous SNV,"AGTPBP1:NM_001286715:exon9:c.A1000G:p.I334V,AGTPBP1:NM_001286717:exon9:c.A1000G:p.I334V,AGTPBP1:NM_001330701:exon10:c.A844G:p.I282V,AGTPBP1:NM_015239:exon10:c.A844G:p.I282V",D,D,D,T,N,T
chr9,130571086,130571086,G,A,P286189_T,FPGS,Silent,NM_001288803,exon10,c.G900A,p.G300G,SNP,SNVindel,exonic,FPGS,NA,synonymous SNV,"FPGS:NM_001288803:exon10:c.G900A:p.G300G,FPGS:NM_001018078:exon11:c.G828A:p.G276G,FPGS:NM_004957:exon11:c.G978A:p.G326G",D,N,D,T,N,T
chr10,11527058,11527058,T,C,P286189_T,USP6NL,Silent,NM_001080491,exon12,c.A888G,p.T296T,SNP,SNVindel,exonic,USP6NL,NA,synonymous SNV,"USP6NL:NM_001080491:exon12:c.A888G:p.T296T,USP6NL:NM_014688:exon13:c.A837G:p.T279T",NA,NA,NA,NA,NA,NA
chr10,81917481,81917481,C,T,P286189_T,ANXA11,Missense_Mutation,NM_001157,exon14,c.G1374A,p.M458I,SNP,SNVindel,exonic,ANXA11,NA,nonsynonymous SNV,"ANXA11:NM_001157:exon14:c.G1374A:p.M458I,ANXA11:NM_145868:exon15:c.G1374A:p.M458I,ANXA11:NM_001278407:exon16:c.G1374A:p.M458I,ANXA11:NM_001278408:exon16:c.G1374A:p.M458I,ANXA11:NM_001278409:exon16:c.G1275A:p.M425I,ANXA11:NM_145869:exon16:c.G1374A:p.M458I",T,D,D,T,N,T
chr10,93247506,93247506,T,G,P286189_T,HECTD2,Missense_Mutation,NM_001348365,exon11,c.T841G,p.S281A,SNP,SNVindel,exonic,HECTD2,NA,nonsynonymous SNV,"HECTD2:NM_001348365:exon11:c.T841G:p.S281A,HECTD2:NM_182765:exon11:c.T1162G:p.S388A,HECTD2:NM_001284274:exon12:c.T1174G:p.S392A",T,D,D,T,N,T
chr10,105138077,105138077,G,A,P286189_T,TAF5,Missense_Mutation,NM_006951,exon3,c.G883A,p.E295K,SNP,SNVindel,exonic,TAF5,NA,nonsynonymous SNV,"TAF5:NM_006951:exon3:c.G883A:p.E295K,TAF5:NM_139052:exon3:c.G883A:p.E295K",D,D,D,T,D,T
chr11,377301,377301,G,A,P286189_T,B4GALNT4,Missense_Mutation,NM_178537,exon14,c.G2178A,p.M726I,SNP,SNVindel,exonic,B4GALNT4,NA,nonsynonymous SNV,B4GALNT4:NM_178537:exon14:c.G2178A:p.M726I,T,D,D,T,N,T
chr11,4510269,4510269,C,A,P286189_T,OR52K1,Missense_Mutation,NM_001005171,exon1,c.C139A,p.L47I,SNP,SNVindel,exonic,OR52K1,NA,nonsynonymous SNV,OR52K1:NM_001005171:exon1:c.C139A:p.L47I,T,N,N,T,N,T
chr11,6048010,6048010,C,T,P286189_T,OR56A1,Missense_Mutation,NM_001001917,exon1,c.G925A,p.G309R,SNP,SNVindel,exonic,OR56A1,NA,nonsynonymous SNV,OR56A1:NM_001001917:exon1:c.G925A:p.G309R,T,D,N,T,D,T
chr11,46397012,46397012,C,T,P286189_T,DGKZ,Missense_Mutation,NM_001199268,exon19,c.C1672T,p.R558W,SNP,SNVindel,exonic,DGKZ,NA,nonsynonymous SNV,"DGKZ:NM_001199268:exon19:c.C1672T:p.R558W,DGKZ:NM_001199266:exon20:c.C1741T:p.R581W,DGKZ:NM_001199267:exon20:c.C1738T:p.R580W,DGKZ:NM_003646:exon20:c.C1741T:p.R581W,DGKZ:NM_201532:exon20:c.C1789T:p.R597W,DGKZ:NM_201533:exon20:c.C1753T:p.R585W,DGKZ:NM_001105540:exon21:c.C2305T:p.R769W",D,D,D,T,D,T
chr11,66334923,66334923,G,T,P286189_T,CTSF,Missense_Mutation,NM_003793,exon3,c.C523A,p.L175M,SNP,SNVindel,exonic,CTSF,NA,nonsynonymous SNV,CTSF:NM_003793:exon3:c.C523A:p.L175M,T,N,N,T,N,T
chr11,70333672,70333672,G,A,P286189_T,SHANK2,Missense_Mutation,NM_133266,exon10,c.C962T,p.P321L,SNP,SNVindel,exonic,SHANK2,NA,nonsynonymous SNV,SHANK2:NM_133266:exon10:c.C962T:p.P321L,D,D,D,T,D,T
chr11,76507623,76507623,G,A,P286189_T,TSKU,Silent,NM_001258210,exon2,c.G963A,p.R321R,SNP,SNVindel,exonic,TSKU,NA,synonymous SNV,"TSKU:NM_001258210:exon2:c.G963A:p.R321R,TSKU:NM_001318477:exon2:c.G1005A:p.R335R,TSKU:NM_001318478:exon2:c.G963A:p.R321R,TSKU:NM_001318479:exon2:c.G963A:p.R321R,TSKU:NM_015516:exon2:c.G963A:p.R321R",NA,NA,NA,NA,NA,NA
chr11,89402640,89402640,G,A,P286189_T,FOLH1B,Missense_Mutation,NM_153696,exon3,c.G64A,p.G22R,SNP,SNVindel,exonic,FOLH1B,NA,nonsynonymous SNV,FOLH1B:NM_153696:exon3:c.G64A:p.G22R,NA,NA,NA,NA,NA,NA
chr11,119230260,119230260,T,C,P286189_T,USP2,Silent,NM_001243759,exon3,c.A207G,p.T69T,SNP,SNVindel,exonic,USP2,NA,synonymous SNV,"USP2:NM_001243759:exon3:c.A207G:p.T69T,USP2:NM_171997:exon3:c.A309G:p.T103T,USP2:NM_004205:exon4:c.A936G:p.T312T",NA,NA,NA,NA,NA,NA
chr12,11506356,11506356,G,A,P286189_T,PRB1,Missense_Mutation,NM_001367912,exon7,c.C1487T,p.A496V,SNP,SNVindel,exonic,PRB1,NA,nonsynonymous SNV,PRB1:NM_001367912:exon7:c.C1487T:p.A496V,NA,NA,NA,NA,NA,NA
chr12,11506876,11506876,G,T,P286189_T,PRB1,Missense_Mutation,NM_001367912,exon5,c.C1147A,p.Q383K,SNP,SNVindel,exonic,PRB1,NA,nonsynonymous SNV,PRB1:NM_001367912:exon5:c.C1147A:p.Q383K,D,.,N,T,D,T
chr12,14946832,14946832,A,G,P286189_T,WBP11,Missense_Mutation,NM_016312,exon8,c.T746C,p.V249A,SNP,SNVindel,exonic,WBP11,NA,nonsynonymous SNV,WBP11:NM_016312:exon8:c.T746C:p.V249A,T,N,N,.,N,T
chr12,42523646,42523646,C,A,P286189_T,GXYLT1,Missense_Mutation,NM_173601,exon2,c.G229T,p.D77Y,SNP,SNVindel,exonic,GXYLT1,NA,nonsynonymous SNV,GXYLT1:NM_173601:exon2:c.G229T:p.D77Y,D,U,D,.,N,T
chr12,54576396,54576396,C,T,P286189_T,SMUG1,Silent,NM_001243788,exon3,c.G297A,p.G99G,SNP,SNVindel,exonic,SMUG1,NA,synonymous SNV,"SMUG1:NM_001243788:exon3:c.G297A:p.G99G,SMUG1:NM_001243791:exon3:c.G297A:p.G99G,SMUG1:NM_001351261:exon3:c.G297A:p.G99G,SMUG1:NM_001243787:exon4:c.G297A:p.G99G,SMUG1:NM_001243790:exon4:c.G297A:p.G99G,SMUG1:NM_001351237:exon4:c.G297A:p.G99G,SMUG1:NM_001351238:exon4:c.G297A:p.G99G,SMUG1:NM_001351239:exon4:c.G297A:p.G99G,SMUG1:NM_001351241:exon4:c.G297A:p.G99G,SMUG1:NM_001351242:exon4:c.G297A:p.G99G,SMUG1:NM_001351243:exon4:c.G297A:p.G99G,SMUG1:NM_001351248:exon4:c.G297A:p.G99G,SMUG1:NM_001351250:exon4:c.G297A:p.G99G,SMUG1:NM_001351251:exon4:c.G297A:p.G99G,SMUG1:NM_001351252:exon4:c.G297A:p.G99G,SMUG1:NM_001351253:exon4:c.G297A:p.G99G,SMUG1:NM_001351254:exon4:c.G297A:p.G99G,SMUG1:NM_001351255:exon4:c.G297A:p.G99G,SMUG1:NM_001351258:exon4:c.G297A:p.G99G,SMUG1:NM_001351262:exon4:c.G297A:p.G99G,SMUG1:NM_014311:exon4:c.G297A:p.G99G,SMUG1:NM_001243789:exon5:c.G297A:p.G99G,SMUG1:NM_001351240:exon5:c.G297A:p.G99G,SMUG1:NM_001351245:exon5:c.G297A:p.G99G,SMUG1:NM_001351247:exon5:c.G297A:p.G99G,SMUG1:NM_001351249:exon5:c.G297A:p.G99G,SMUG1:NM_001351256:exon5:c.G297A:p.G99G,SMUG1:NM_001351257:exon5:c.G297A:p.G99G,SMUG1:NM_001351244:exon6:c.G297A:p.G99G,SMUG1:NM_001351246:exon6:c.G297A:p.G99G",NA,NA,NA,NA,NA,NA
chr12,68051521,68051521,G,A,P286189_T,DYRK2,Silent,NM_003583,exon2,c.G615A,p.K205K,SNP,SNVindel,exonic,DYRK2,NA,synonymous SNV,"DYRK2:NM_003583:exon2:c.G615A:p.K205K,DYRK2:NM_006482:exon3:c.G834A:p.K278K",NA,NA,NA,NA,NA,NA
chr12,108913100,108913100,G,A,P286189_T,FICD,Missense_Mutation,NM_007076,exon3,c.G1225A,p.G409S,SNP,SNVindel,exonic,FICD,NA,nonsynonymous SNV,FICD:NM_007076:exon3:c.G1225A:p.G409S,D,D,D,.,D,D
chr12,113306286,113306286,C,T,P286189_T,RPH3A,Missense_Mutation,NM_001347955,exon7,c.C295T,p.L99F,SNP,SNVindel,exonic,RPH3A,NA,nonsynonymous SNV,"RPH3A:NM_001347955:exon7:c.C295T:p.L99F,RPH3A:NM_014954:exon7:c.C484T:p.L162F,RPH3A:NM_001143854:exon8:c.C496T:p.L166F,RPH3A:NM_001347952:exon8:c.C496T:p.L166F,RPH3A:NM_001347953:exon8:c.C496T:p.L166F,RPH3A:NM_001347954:exon8:c.C496T:p.L166F",D,D,D,T,N,D
chr13,39343728,39343728,A,G,P286189_T,FREM2,Silent,NM_207361,exon4,c.A5424G,p.R1808R,SNP,SNVindel,exonic,FREM2,NA,synonymous SNV,FREM2:NM_207361:exon4:c.A5424G:p.R1808R,NA,NA,NA,NA,NA,NA
chr13,41932954,41932954,T,C,P286189_T,NAA16,Silent,NM_024561,exon12,c.T1266C,p.G422G,SNP,SNVindel,exonic,NAA16,NA,synonymous SNV,NAA16:NM_024561:exon12:c.T1266C:p.G422G,NA,NA,NA,NA,NA,NA
chr13,42461400,42461400,C,T,P286189_T,VWA8,Missense_Mutation,NM_001009814,exon6,c.G749A,p.G250E,SNP,SNVindel,exonic,VWA8,NA,nonsynonymous SNV,"VWA8:NM_001009814:exon6:c.G749A:p.G250E,VWA8:NM_015058:exon6:c.G749A:p.G250E",D,D,D,T,D,T
chr13,77531773,77531773,A,T,P286189_T,ACOD1,Missense_Mutation,NM_001258406,exon5,c.A1099T,p.S367C,SNP,SNVindel,exonic,ACOD1,NA,nonsynonymous SNV,ACOD1:NM_001258406:exon5:c.A1099T:p.S367C,T,N,N,.,D,T
chr14,39650056,39650056,T,C,P286189_T,PNN,Silent,NM_002687,exon9,c.T1143C,p.S381S,SNP,SNVindel,exonic,PNN,NA,synonymous SNV,PNN:NM_002687:exon9:c.T1143C:p.S381S,NA,NA,NA,NA,NA,NA
chr14,51352534,51352534,G,A,P286189_T,ABHD12B,Missense_Mutation,NM_181814,exon5,c.G352A,p.A118T,SNP,SNVindel,exonic,ABHD12B,NA,nonsynonymous SNV,"ABHD12B:NM_181814:exon5:c.G352A:p.A118T,ABHD12B:NM_181533:exon6:c.G262A:p.A88T,ABHD12B:NM_001206673:exon7:c.G583A:p.A195T",D,D,D,T,D,T
chr14,64692084,64692084,T,C,P286189_T,SYNE2,Missense_Mutation,NM_182910,exon9,c.T1130C,p.V377A,SNP,SNVindel,exonic,SYNE2,NA,nonsynonymous SNV,"SYNE2:NM_182910:exon9:c.T1130C:p.V377A,SYNE2:NM_182913:exon11:c.T1511C:p.V504A,SYNE2:NM_015180:exon115:c.T20498C:p.V6833A,SYNE2:NM_182914:exon116:c.T20564C:p.V6855A",D,N,D,T,N,T
chr14,74363085,74363085,G,T,P286189_T,ZNF410,Missense_Mutation,NM_001242926,exon4,c.G236T,p.R79L,SNP,SNVindel,exonic,ZNF410,NA,nonsynonymous SNV,"ZNF410:NM_001242926:exon4:c.G236T:p.R79L,ZNF410:NM_021188:exon4:c.G236T:p.R79L,ZNF410:NM_001242924:exon5:c.G287T:p.R96L",D,N,D,T,D,T
chr14,93118117,93118117,G,A,P286189_T,RIN3,Silent,NM_001319987,exon5,c.G498A,p.E166E,SNP,SNVindel,exonic,RIN3,NA,synonymous SNV,"RIN3:NM_001319987:exon5:c.G498A:p.E166E,RIN3:NM_024832:exon6:c.G723A:p.E241E",NA,NA,NA,NA,NA,NA
chr14,94079209,94079209,A,T,P286189_T,UNC79,Missense_Mutation,NM_001346218,exon27,c.A3821T,p.H1274L,SNP,SNVindel,exonic,UNC79,NA,nonsynonymous SNV,"UNC79:NM_001346218:exon27:c.A3821T:p.H1274L,UNC79:NM_020818:exon27:c.A3290T:p.H1097L",T,D,D,T,D,T
chr14,95921996,95921996,A,G,P286189_T,SYNE3,Silent,NM_001363692,exon5,c.T855C,p.G285G,SNP,SNVindel,exonic,SYNE3,NA,synonymous SNV,"SYNE3:NM_001363692:exon5:c.T855C:p.G285G,SYNE3:NM_152592:exon5:c.T855C:p.G285G",NA,NA,NA,NA,NA,NA
chr15,29416951,29416951,T,C,P286189_T,FAM189A1,Silent,NM_015307,exon10,c.A1242G,p.S414S,SNP,SNVindel,exonic,FAM189A1,NA,synonymous SNV,FAM189A1:NM_015307:exon10:c.A1242G:p.S414S,NA,NA,NA,NA,NA,NA
chr15,32738694,32738694,G,A,P286189_T,GOLGA8O,Missense_Mutation,NM_001277308,exon15,c.C1349T,p.P450L,SNP,SNVindel,exonic,GOLGA8O,NA,nonsynonymous SNV,GOLGA8O:NM_001277308:exon15:c.C1349T:p.P450L,T,.,N,T,N,T
chr15,34130519,34130519,A,G,P286189_T,RYR3,Missense_Mutation,NM_001243996,exon88,c.A12323G,p.E4108G,SNP,SNVindel,exonic,RYR3,NA,nonsynonymous SNV,"RYR3:NM_001243996:exon88:c.A12323G:p.E4108G,RYR3:NM_001036:exon89:c.A12338G:p.E4113G",T,D,D,D,N,D
chr15,42170700,42170700,G,C,P286189_T,SPTBN5,Missense_Mutation,NM_016642,exon17,c.C3310G,p.R1104G,SNP,SNVindel,exonic,SPTBN5,NA,nonsynonymous SNV,SPTBN5:NM_016642:exon17:c.C3310G:p.R1104G,T,N,N,T,D,T
chr15,42170701,42170701,G,T,P286189_T,SPTBN5,Silent,NM_016642,exon17,c.C3309A,p.A1103A,SNP,SNVindel,exonic,SPTBN5,NA,synonymous SNV,SPTBN5:NM_016642:exon17:c.C3309A:p.A1103A,NA,NA,NA,NA,NA,NA
chr15,42458012,42458012,T,C,P286189_T,VPS39,Missense_Mutation,NM_015289,exon17,c.A1683G,p.I561M,SNP,SNVindel,exonic,VPS39,NA,nonsynonymous SNV,"VPS39:NM_015289:exon17:c.A1683G:p.I561M,VPS39:NM_001301138:exon18:c.A1716G:p.I572M",D,D,D,T,D,T
chr15,59399848,59399848,G,A,P286189_T,CCNB2,Silent,NM_004701,exon3,c.G246A,p.Q82Q,SNP,SNVindel,exonic,CCNB2,NA,synonymous SNV,CCNB2:NM_004701:exon3:c.G246A:p.Q82Q,NA,NA,NA,NA,NA,NA
chr15,63901405,63901405,A,G,P286189_T,HERC1,Missense_Mutation,NM_003922,exon78,c.T14461C,p.S4821P,SNP,SNVindel,exonic,HERC1,NA,nonsynonymous SNV,HERC1:NM_003922:exon78:c.T14461C:p.S4821P,D,D,D,D,D,D
chr15,68620537,68620537,G,A,P286189_T,ITGA11,Silent,NM_001004439,exon16,c.C1965T,p.F655F,SNP,SNVindel,exonic,ITGA11,NA,synonymous SNV,ITGA11:NM_001004439:exon16:c.C1965T:p.F655F,NA,NA,NA,NA,NA,NA
chr16,1291454,1291454,G,A,P286189_T,TPSAB1,Missense_Mutation,NM_003294,exon4,c.G253A,p.A85T,SNP,SNVindel,exonic,TPSAB1,NA,nonsynonymous SNV,TPSAB1:NM_003294:exon4:c.G253A:p.A85T,T,N,N,D,N,T
chr16,11114131,11114131,A,G,P286189_T,CLEC16A,Missense_Mutation,NM_001243403,exon11,c.A1331G,p.D444G,SNP,SNVindel,exonic,CLEC16A,NA,nonsynonymous SNV,"CLEC16A:NM_001243403:exon11:c.A1331G:p.D444G,CLEC16A:NM_015226:exon11:c.A1385G:p.D462G",D,D,D,T,D,T
chr16,19726227,19726227,A,C,P286189_T,KNOP1,Nonsense_Mutation,NM_001012991,exon2,c.T131G,p.L44X,SNP,SNVindel,exonic,KNOP1,NA,stopgain,"KNOP1:NM_001012991:exon2:c.T131G:p.L44X,KNOP1:NM_001348527:exon2:c.T311G:p.L104X,KNOP1:NM_001348530:exon2:c.T131G:p.L44X,KNOP1:NM_001348531:exon2:c.T131G:p.L44X,KNOP1:NM_001348534:exon2:c.T131G:p.L44X,KNOP1:NM_001348535:exon2:c.T131G:p.L44X,KNOP1:NM_001348536:exon2:c.T131G:p.L44X,KNOP1:NM_001348528:exon3:c.T131G:p.L44X,KNOP1:NM_001348529:exon3:c.T131G:p.L44X,KNOP1:NM_001348532:exon3:c.T131G:p.L44X,KNOP1:NM_001348533:exon3:c.T131G:p.L44X,KNOP1:NM_001348537:exon3:c.T131G:p.L44X",.,N,A,.,.,.
chr16,29884695,29884695,T,C,P286189_T,SEZ6L2,Missense_Mutation,NM_001114100,exon12,c.A2012G,p.Y671C,SNP,SNVindel,exonic,SEZ6L2,NA,nonsynonymous SNV,"SEZ6L2:NM_001114100:exon12:c.A2012G:p.Y671C,SEZ6L2:NM_001243333:exon13:c.A2222G:p.Y741C,SEZ6L2:NM_001114099:exon14:c.A2144G:p.Y715C,SEZ6L2:NM_001243332:exon14:c.A2354G:p.Y785C,SEZ6L2:NM_012410:exon14:c.A2144G:p.Y715C,SEZ6L2:NM_201575:exon14:c.A2354G:p.Y785C",T,N,D,T,D,T
chr16,29888727,29888727,C,A,P286189_T,SEZ6L2,Missense_Mutation,NM_001114100,exon9,c.G1432T,p.V478F,SNP,SNVindel,exonic,SEZ6L2,NA,nonsynonymous SNV,"SEZ6L2:NM_001114100:exon9:c.G1432T:p.V478F,SEZ6L2:NM_001243333:exon10:c.G1642T:p.V548F,SEZ6L2:NM_001114099:exon11:c.G1564T:p.V522F,SEZ6L2:NM_001243332:exon11:c.G1774T:p.V592F,SEZ6L2:NM_012410:exon11:c.G1564T:p.V522F,SEZ6L2:NM_201575:exon11:c.G1774T:p.V592F",D,D,D,T,D,T
chr16,67214011,67214011,T,C,P286189_T,KIAA0895L,Missense_Mutation,NM_001040715,exon2,c.A503G,p.Y168C,SNP,SNVindel,exonic,KIAA0895L,NA,nonsynonymous SNV,"KIAA0895L:NM_001040715:exon2:c.A503G:p.Y168C,KIAA0895L:NM_001369684:exon2:c.A503G:p.Y168C,KIAA0895L:NM_001369680:exon3:c.A503G:p.Y168C,KIAA0895L:NM_001369681:exon3:c.A503G:p.Y168C,KIAA0895L:NM_001369682:exon3:c.A503G:p.Y168C,KIAA0895L:NM_001369686:exon3:c.A503G:p.Y168C,KIAA0895L:NM_001369687:exon3:c.A503G:p.Y168C,KIAA0895L:NM_001369685:exon4:c.A503G:p.Y168C",D,D,D,.,D,T
chr16,68867203,68867203,C,T,P286189_T,CDH1,Missense_Mutation,NM_001317184,exon15,c.C2267T,p.A756V,SNP,SNVindel,exonic,CDH1,NA,nonsynonymous SNV,"CDH1:NM_001317184:exon15:c.C2267T:p.A756V,CDH1:NM_001317186:exon15:c.C485T:p.A162V,CDH1:NM_001317185:exon16:c.C902T:p.A301V,CDH1:NM_004360:exon16:c.C2450T:p.A817V",D,D,D,T,D,D
chr16,71512200,71512200,C,T,P286189_T,ZNF19,Missense_Mutation,NM_006961,exon5,c.G205A,p.G69R,SNP,SNVindel,exonic,ZNF19,NA,nonsynonymous SNV,ZNF19:NM_006961:exon5:c.G205A:p.G69R,T,N,D,T,D,T
chr17,7907070,7907070,C,T,P286189_T,GUCY2D,Silent,NM_000180,exon2,c.C705T,p.D235D,SNP,SNVindel,exonic,GUCY2D,NA,synonymous SNV,GUCY2D:NM_000180:exon2:c.C705T:p.D235D,NA,NA,NA,NA,NA,NA
chr17,26902541,26902541,A,G,P286189_T,ALDOC,Missense_Mutation,NM_005165,exon2,c.T10C,p.S4P,SNP,SNVindel,exonic,ALDOC,NA,nonsynonymous SNV,ALDOC:NM_005165:exon2:c.T10C:p.S4P,T,D,N,D,N,T
chr17,37563938,37563938,C,T,P286189_T,MED1,Silent,NM_004774,exon17,c.G4536A,p.R1512R,SNP,SNVindel,exonic,MED1,NA,synonymous SNV,MED1:NM_004774:exon17:c.G4536A:p.R1512R,NA,NA,NA,NA,NA,NA
chr17,42337205,42337205,G,T,P286189_T,SLC4A1,Nonsense_Mutation,NM_000342,exon7,c.C581A,p.S194X,SNP,SNVindel,exonic,SLC4A1,NA,stopgain,SLC4A1:NM_000342:exon7:c.C581A:p.S194X,.,U,A,.,.,.
chr17,47797694,47797694,T,C,P286189_T,FAM117A,Silent,NM_030802,exon4,c.A567G,p.A189A,SNP,SNVindel,exonic,FAM117A,NA,synonymous SNV,FAM117A:NM_030802:exon4:c.A567G:p.A189A,NA,NA,NA,NA,NA,NA
chr17,67516423,67516423,A,G,P286189_T,MAP2K6,Missense_Mutation,NM_001330450,exon6,c.A211G,p.I71V,SNP,SNVindel,exonic,MAP2K6,NA,nonsynonymous SNV,"MAP2K6:NM_001330450:exon6:c.A211G:p.I71V,MAP2K6:NM_002758:exon6:c.A379G:p.I127V",.,N,D,T,.,T
chr17,78083746,78083746,T,C,P286189_T,GAA,Silent,NM_000152,exon9,c.T1329C,p.D443D,SNP,SNVindel,exonic,GAA,NA,synonymous SNV,"GAA:NM_000152:exon9:c.T1329C:p.D443D,GAA:NM_001079804:exon9:c.T1329C:p.D443D,GAA:NM_001079803:exon10:c.T1329C:p.D443D",NA,NA,NA,NA,NA,NA
chr17,78221986,78221986,A,G,P286189_T,SLC26A11,Missense_Mutation,NM_001166348,exon13,c.A1352G,p.Y451C,SNP,SNVindel,exonic,SLC26A11,NA,nonsynonymous SNV,"SLC26A11:NM_001166348:exon13:c.A1352G:p.Y451C,SLC26A11:NM_001166349:exon13:c.A1352G:p.Y451C,SLC26A11:NM_001166347:exon14:c.A1352G:p.Y451C,SLC26A11:NM_173626:exon14:c.A1352G:p.Y451C",D,D,D,D,D,D
chr17,79423598,79423598,G,A,P286189_T,BAHCC1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,BAHCC1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr18,20832965,20832965,G,A,P286189_T,CABLES1,Silent,NM_001100619,exon8,c.G1488A,p.K496K,SNP,SNVindel,exonic,CABLES1,NA,synonymous SNV,"CABLES1:NM_001100619:exon8:c.G1488A:p.K496K,CABLES1:NM_001256438:exon8:c.G507A:p.K169K,CABLES1:NM_138375:exon8:c.G693A:p.K231K",NA,NA,NA,NA,NA,NA
chr18,61233989,61233989,T,C,P286189_T,SERPINB12,Silent,NM_001307928,exon7,c.T1023C,p.D341D,SNP,SNVindel,exonic,SERPINB12,NA,synonymous SNV,"SERPINB12:NM_001307928:exon7:c.T1023C:p.D341D,SERPINB12:NM_080474:exon7:c.T963C:p.D321D",NA,NA,NA,NA,NA,NA
chr19,4306004,4306004,T,C,P286189_T,FSD1,Missense_Mutation,NM_001330429,exon2,c.T77C,p.I26T,SNP,SNVindel,exonic,FSD1,NA,nonsynonymous SNV,"FSD1:NM_001330429:exon2:c.T77C:p.I26T,FSD1:NM_024333:exon2:c.T77C:p.I26T",D,N,D,T,D,T
chr19,5867280,5867280,G,A,P286189_T,FUT5,Missense_Mutation,NM_002034,exon2,c.C457T,p.P153S,SNP,SNVindel,exonic,FUT5,NA,nonsynonymous SNV,FUT5:NM_002034:exon2:c.C457T:p.P153S,D,U,N,T,D,T
chr19,8203433,8203433,G,A,P286189_T,FBN3,Missense_Mutation,NM_001321431,exon9,c.C881T,p.A294V,SNP,SNVindel,exonic,FBN3,NA,nonsynonymous SNV,"FBN3:NM_001321431:exon9:c.C881T:p.A294V,FBN3:NM_032447:exon9:c.C881T:p.A294V",T,U,N,D,N,T
chr19,11277245,11277245,C,G,P286189_T,KANK2,Missense_Mutation,NM_015493,exon11,c.G2569C,p.A857P,SNP,SNVindel,exonic,KANK2,NA,nonsynonymous SNV,"KANK2:NM_015493:exon11:c.G2569C:p.A857P,KANK2:NM_001329451:exon12:c.G2545C:p.A849P,KANK2:NM_001136191:exon13:c.G2545C:p.A849P",.,N,N,T,.,T
chr19,11606808,11606808,C,T,P286189_T,ZNF653,Silent,NM_138783,exon3,c.G516A,p.S172S,SNP,SNVindel,exonic,ZNF653,NA,synonymous SNV,ZNF653:NM_138783:exon3:c.G516A:p.S172S,NA,NA,NA,NA,NA,NA
chr19,19749111,19749111,C,T,P286189_T,GMIP,Missense_Mutation,NM_001288998,exon9,c.G646A,p.A216T,SNP,SNVindel,exonic,GMIP,NA,nonsynonymous SNV,"GMIP:NM_001288998:exon9:c.G646A:p.A216T,GMIP:NM_001288999:exon9:c.G646A:p.A216T,GMIP:NM_016573:exon9:c.G646A:p.A216T",D,N,D,T,D,T
chr19,35524536,35524536,A,G,P286189_T,SCN1B,Missense_Mutation,NM_001037,exon3,c.A341G,p.N114S,SNP,SNVindel,exonic,SCN1B,NA,nonsynonymous SNV,"SCN1B:NM_001037:exon3:c.A341G:p.N114S,SCN1B:NM_001321605:exon3:c.A242G:p.N81S,SCN1B:NM_199037:exon3:c.A341G:p.N114S",D,D,D,T,D,T
chr19,46417614,46417614,T,C,P286189_T,NANOS2,Missense_Mutation,NM_001029861,exon1,c.A338G,p.Y113C,SNP,SNVindel,exonic,NANOS2,NA,nonsynonymous SNV,NANOS2:NM_001029861:exon1:c.A338G:p.Y113C,D,D,D,T,D,T
chr19,49994107,49994107,C,T,P286189_T,RPL13A,Missense_Mutation,NM_001270491,exon4,c.C145T,p.P49S,SNP,SNVindel,exonic,RPL13A,NA,nonsynonymous SNV,"RPL13A:NM_001270491:exon4:c.C145T:p.P49S,RPL13A:NM_012423:exon5:c.C328T:p.P110S",T,U,D,.,D,T
chr20,6033091,6033091,C,T,P286189_T,LRRN4,Missense_Mutation,NM_152611,exon2,c.G355A,p.G119S,SNP,SNVindel,exonic,LRRN4,NA,nonsynonymous SNV,LRRN4:NM_152611:exon2:c.G355A:p.G119S,T,N,N,T,N,T
chr20,10018958,10018958,A,G,P286189_T,ANKEF1,Silent,NM_198798,exon2,c.A9G,p.L3L,SNP,SNVindel,exonic,ANKEF1,NA,synonymous SNV,"ANKEF1:NM_198798:exon2:c.A9G:p.L3L,ANKEF1:NM_022096:exon3:c.A9G:p.L3L",NA,NA,NA,NA,NA,NA
chr20,13846081,13846081,A,G,P286189_T,SEL1L2,Missense_Mutation,NM_025229,exon16,c.T1484C,p.I495T,SNP,SNVindel,exonic,SEL1L2,NA,nonsynonymous SNV,SEL1L2:NM_025229:exon16:c.T1484C:p.I495T,T,N,D,T,N,T
chr20,31025068,31025068,G,A,P286189_T,ASXL1,Missense_Mutation,NM_001363734,exon11,c.G4370A,p.G1457D,SNP,SNVindel,exonic,ASXL1,NA,nonsynonymous SNV,"ASXL1:NM_001363734:exon11:c.G4370A:p.G1457D,ASXL1:NM_015338:exon12:c.G4553A:p.G1518D",D,D,D,T,D,T
chr20,43752846,43752846,G,A,P286189_T,WFDC12,Missense_Mutation,NM_080869,exon2,c.C140T,p.P47L,SNP,SNVindel,exonic,WFDC12,NA,nonsynonymous SNV,WFDC12:NM_080869:exon2:c.C140T:p.P47L,D,.,N,T,D,T
chr22,25334185,25334185,C,G,P286189_T,TMEM211,Missense_Mutation,NM_001001663,exon3,c.G58C,p.A20P,SNP,SNVindel,exonic,TMEM211,NA,nonsynonymous SNV,TMEM211:NM_001001663:exon3:c.G58C:p.A20P,T,N,D,T,D,T
chr22,31523424,31523424,A,G,P286189_T,INPP5J,Missense_Mutation,NM_001284287,exon5,c.A388G,p.M130V,SNP,SNVindel,exonic,INPP5J,NA,nonsynonymous SNV,"INPP5J:NM_001284287:exon5:c.A388G:p.M130V,INPP5J:NM_001002837:exon6:c.A589G:p.M197V,INPP5J:NM_001284285:exon6:c.A1693G:p.M565V,INPP5J:NM_001284286:exon7:c.A1492G:p.M498V,INPP5J:NM_001284288:exon7:c.A592G:p.M198V,INPP5J:NM_001284289:exon8:c.A592G:p.M198V",T,D,D,T,D,T
chr22,44333091,44333091,T,C,P286189_T,PNPLA3,Silent,NM_025225,exon6,c.T918C,p.R306R,SNP,SNVindel,exonic,PNPLA3,NA,synonymous SNV,PNPLA3:NM_025225:exon6:c.T918C:p.R306R,NA,NA,NA,NA,NA,NA
chr22,50728481,50728481,T,C,P286189_T,PLXNB2,Missense_Mutation,NM_012401,exon3,c.A533G,p.D178G,SNP,SNVindel,exonic,PLXNB2,NA,nonsynonymous SNV,PLXNB2:NM_012401:exon3:c.A533G:p.D178G,T,D,D,T,N,T
chrX,47775835,47775835,T,C,P286189_T,ZNF81,Missense_Mutation,NM_007137,exon5,c.T1790C,p.L597P,SNP,SNVindel,exonic,ZNF81,NA,nonsynonymous SNV,ZNF81:NM_007137:exon5:c.T1790C:p.L597P,D,N,D,T,D,T
chr1,2543578,2543578,G,A,P293977_F,MMEL1,Nonsense_Mutation,NM_033467,exon3,c.C220T,p.R74X,SNP,SNVindel,exonic,MMEL1,NA,stopgain,MMEL1:NM_033467:exon3:c.C220T:p.R74X,.,U,A,.,.,.
chr1,21902372,21902372,G,A,P293977_F,ALPL,Missense_Mutation,NM_001177520,exon8,c.G913A,p.V305I,SNP,SNVindel,exonic,ALPL,NA,nonsynonymous SNV,"ALPL:NM_001177520:exon8:c.G913A:p.V305I,ALPL:NM_001127501:exon9:c.G979A:p.V327I,ALPL:NM_000478:exon10:c.G1144A:p.V382I,ALPL:NM_001369803:exon10:c.G1144A:p.V382I,ALPL:NM_001369804:exon10:c.G1144A:p.V382I,ALPL:NM_001369805:exon10:c.G1144A:p.V382I",D,D,D,D,N,D
chr1,22198727,22198727,G,A,P293977_F,HSPG2,Silent,NM_001291860,exon33,c.C4176T,p.G1392G,SNP,SNVindel,exonic,HSPG2,NA,synonymous SNV,"HSPG2:NM_001291860:exon33:c.C4176T:p.G1392G,HSPG2:NM_005529:exon33:c.C4173T:p.G1391G",NA,NA,NA,NA,NA,NA
chr1,26881223,26881223,G,A,P293977_F,RPS6KA1,Silent,NM_001006665,exon8,c.G777A,p.V259V,SNP,SNVindel,exonic,RPS6KA1,NA,synonymous SNV,"RPS6KA1:NM_001006665:exon8:c.G777A:p.V259V,RPS6KA1:NM_001330441:exon8:c.G702A:p.V234V,RPS6KA1:NM_002953:exon9:c.G750A:p.V250V",NA,NA,NA,NA,NA,NA
chr1,51439676,51439676,G,T,P293977_F,CDKN2C,Missense_Mutation,NM_078626,exon2,c.G241T,p.G81C,SNP,SNVindel,exonic,CDKN2C,NA,nonsynonymous SNV,"CDKN2C:NM_078626:exon2:c.G241T:p.G81C,CDKN2C:NM_001262:exon3:c.G241T:p.G81C",D,D,D,T,D,D
chr1,154042914,154042914,C,T,P293977_F,NUP210L,Missense_Mutation,NM_001159484,exon17,c.G2389A,p.V797I,SNP,SNVindel,exonic,NUP210L,NA,nonsynonymous SNV,"NUP210L:NM_001159484:exon17:c.G2389A:p.V797I,NUP210L:NM_207308:exon17:c.G2389A:p.V797I",T,N,N,T,N,T
chr1,160011275,160011275,C,T,P293977_F,KCNJ10,Missense_Mutation,NM_002241,exon2,c.G1048A,p.G350R,SNP,SNVindel,exonic,KCNJ10,NA,nonsynonymous SNV,KCNJ10:NM_002241:exon2:c.G1048A:p.G350R,D,N,D,D,N,T
chr1,201190614,201190614,C,T,P293977_F,IGFN1,Missense_Mutation,NM_001164586,exon19,c.C9941T,p.S3314L,SNP,SNVindel,exonic,IGFN1,NA,nonsynonymous SNV,"IGFN1:NM_001164586:exon19:c.C9941T:p.S3314L,IGFN1:NM_001367841:exon20:c.C2570T:p.S857L",D,U,N,T,D,T
chr1,207520885,207520885,G,A,P293977_F,CD55,Missense_Mutation,NM_001300903,exon10,c.G1175A,p.R392H,SNP,SNVindel,exonic,CD55,NA,nonsynonymous SNV,CD55:NM_001300903:exon10:c.G1175A:p.R392H,NA,NA,NA,NA,NA,NA
chr1,231344982,231344982,C,T,P293977_F,TRIM67,Silent,NM_001004342,exon8,c.C2109T,p.N703N,SNP,SNVindel,exonic,TRIM67,NA,synonymous SNV,"TRIM67:NM_001004342:exon8:c.C2109T:p.N703N,TRIM67:NM_001300889:exon10:c.C1923T:p.N641N",NA,NA,NA,NA,NA,NA
chr1,237791277,237791277,G,A,P293977_F,RYR2,Missense_Mutation,NM_001035,exon41,c.G6337A,p.V2113M,SNP,SNVindel,exonic,RYR2,NA,nonsynonymous SNV,RYR2:NM_001035:exon41:c.G6337A:p.V2113M,D,D,D,D,N,D
chr1,248084854,248084854,A,G,P293977_F,OR2T8,Missense_Mutation,NM_001005522,exon1,c.A535G,p.T179A,SNP,SNVindel,exonic,OR2T8,NA,nonsynonymous SNV,OR2T8:NM_001005522:exon1:c.A535G:p.T179A,T,N,P,T,N,T
chr2,133540406,133540406,G,C,P293977_F,NCKAP5,Silent,NM_207363,exon14,c.C3978G,p.A1326A,SNP,SNVindel,exonic,NCKAP5,NA,synonymous SNV,NCKAP5:NM_207363:exon14:c.C3978G:p.A1326A,NA,NA,NA,NA,NA,NA
chr3,107491538,107491538,G,A,P293977_F,BBX,Missense_Mutation,NM_001142568,exon11,c.G970A,p.D324N,SNP,SNVindel,exonic,BBX,NA,nonsynonymous SNV,"BBX:NM_001142568:exon11:c.G970A:p.D324N,BBX:NM_020235:exon11:c.G970A:p.D324N",T,N,D,D,N,D
chr3,184018122,184018122,C,T,P293977_F,PSMD2,Missense_Mutation,NM_002808,exon3,c.C247T,p.R83C,SNP,SNVindel,exonic,PSMD2,NA,nonsynonymous SNV,PSMD2:NM_002808:exon3:c.C247T:p.R83C,D,D,D,T,D,T
chr3,195506473,195506473,A,G,P293977_F,MUC4,Missense_Mutation,NM_018406,exon2,c.T11978C,p.V3993A,SNP,SNVindel,exonic,MUC4,NA,nonsynonymous SNV,MUC4:NM_018406:exon2:c.T11978C:p.V3993A,T,N,P,T,N,T
chr4,22425884,22425884,C,T,P293977_F,ADGRA3,Missense_Mutation,NM_145290,exon11,c.G1535A,p.S512N,SNP,SNVindel,exonic,ADGRA3,NA,nonsynonymous SNV,ADGRA3:NM_145290:exon11:c.G1535A:p.S512N,D,D,D,T,N,T
chr4,75025775,75025775,C,A,P293977_F,MTHFD2L,Silent,NM_001351329,exon2,c.C147A,p.T49T,SNP,SNVindel,exonic,MTHFD2L,NA,synonymous SNV,"MTHFD2L:NM_001351329:exon2:c.C147A:p.T49T,MTHFD2L:NM_001351331:exon2:c.C147A:p.T49T",NA,NA,NA,NA,NA,NA
chr4,138452480,138452480,G,C,P293977_F,PCDH18,Missense_Mutation,NM_001300828,exon1,c.C763G,p.L255V,SNP,SNVindel,exonic,PCDH18,NA,nonsynonymous SNV,"PCDH18:NM_001300828:exon1:c.C763G:p.L255V,PCDH18:NM_019035:exon1:c.C763G:p.L255V",T,U,D,T,N,T
chr5,49699205,49699205,C,A,P293977_F,EMB,Missense_Mutation,NM_198449,exon6,c.G684T,p.L228F,SNP,SNVindel,exonic,EMB,NA,nonsynonymous SNV,EMB:NM_198449:exon6:c.G684T:p.L228F,T,N,N,T,N,T
chr5,75581073,75581073,G,A,P293977_F,SV2C,Missense_Mutation,NM_001297716,exon5,c.G1000A,p.V334M,SNP,SNVindel,exonic,SV2C,NA,nonsynonymous SNV,"SV2C:NM_001297716:exon5:c.G1000A:p.V334M,SV2C:NM_014979:exon5:c.G1000A:p.V334M",T,D,D,T,N,T
chr5,131323906,131323906,G,A,P293977_F,ACSL6,Silent,NM_001009185,exon7,c.C666T,p.T222T,SNP,SNVindel,exonic,ACSL6,NA,synonymous SNV,"ACSL6:NM_001009185:exon7:c.C666T:p.T222T,ACSL6:NM_001205247:exon7:c.C561T:p.T187T,ACSL6:NM_001205248:exon7:c.C591T:p.T197T,ACSL6:NM_001205250:exon7:c.C624T:p.T208T,ACSL6:NM_001205251:exon7:c.C486T:p.T162T,ACSL6:NM_015256:exon7:c.C666T:p.T222T",NA,NA,NA,NA,NA,NA
chr5,140734951,140734951,C,T,P293977_F,PCDHGA4,Missense_Mutation,NM_018917,exon1,c.C277T,p.R93C,SNP,SNVindel,exonic,PCDHGA4,NA,nonsynonymous SNV,"PCDHGA4:NM_018917:exon1:c.C277T:p.R93C,PCDHGA4:NM_032053:exon1:c.C277T:p.R93C",.,.,D,.,.,.
chr5,149505128,149505128,C,T,P293977_F,PDGFRB,Missense_Mutation,NM_001355016,exon11,c.G1495A,p.E499K,SNP,SNVindel,exonic,PDGFRB,NA,nonsynonymous SNV,"PDGFRB:NM_001355016:exon11:c.G1495A:p.E499K,PDGFRB:NM_001355017:exon12:c.G1204A:p.E402K,PDGFRB:NM_002609:exon12:c.G1687A:p.E563K",D,D,D,D,D,D
chr5,167673789,167673789,C,T,P293977_F,TENM2,Missense_Mutation,NM_001080428,exon23,c.C5128T,p.R1710C,SNP,SNVindel,exonic,TENM2,NA,nonsynonymous SNV,"TENM2:NM_001080428:exon23:c.C5128T:p.R1710C,TENM2:NM_001368145:exon25:c.C5368T:p.R1790C,TENM2:NM_001368146:exon26:c.C5362T:p.R1788C,TENM2:NM_001122679:exon28:c.C5818T:p.R1940C",D,D,D,D,D,D
chr5,176863104,176863104,C,T,P293977_F,GRK6,Missense_Mutation,NM_001364164,exon11,c.C458T,p.T153M,SNP,SNVindel,exonic,GRK6,NA,nonsynonymous SNV,"GRK6:NM_001364164:exon11:c.C458T:p.T153M,GRK6:NM_001004105:exon12:c.C1088T:p.T363M,GRK6:NM_001004106:exon12:c.C1088T:p.T363M,GRK6:NM_002082:exon12:c.C1088T:p.T363M",T,D,D,T,D,T
chr5,177031462,177031462,C,T,P293977_F,B4GALT7,Silent,NM_007255,exon2,c.C333T,p.F111F,SNP,SNVindel,exonic,B4GALT7,NA,synonymous SNV,B4GALT7:NM_007255:exon2:c.C333T:p.F111F,NA,NA,NA,NA,NA,NA
chr6,79724853,79724853,G,A,P293977_F,PHIP,Silent,NM_017934,exon15,c.C1470T,p.N490N,SNP,SNVindel,exonic,PHIP,NA,synonymous SNV,PHIP:NM_017934:exon15:c.C1470T:p.N490N,NA,NA,NA,NA,NA,NA
chr6,107070812,107070812,G,A,P293977_F,RTN4IP1,Missense_Mutation,NM_001318746,exon2,c.C7T,p.R3C,SNP,SNVindel,exonic,RTN4IP1,NA,nonsynonymous SNV,"RTN4IP1:NM_001318746:exon2:c.C7T:p.R3C,RTN4IP1:NM_032730:exon2:c.C307T:p.R103C",D,D,D,T,D,T
chr7,42006196,42006196,C,T,P293977_F,GLI3,Silent,NM_000168,exon15,c.G2475A,p.T825T,SNP,SNVindel,exonic,GLI3,NA,synonymous SNV,GLI3:NM_000168:exon15:c.G2475A:p.T825T,NA,NA,NA,NA,NA,NA
chr7,99751584,99751584,C,T,P293977_F,LAMTOR4,Silent,NM_001318237,exon3,c.C216T,p.V72V,SNP,SNVindel,exonic,LAMTOR4,NA,synonymous SNV,"LAMTOR4:NM_001318237:exon3:c.C216T:p.V72V,LAMTOR4:NM_001008395:exon4:c.C297T:p.V99V",NA,NA,NA,NA,NA,NA
chr7,100643876,100643876,C,T,P293977_F,MUC12,Silent,NM_001164462,exon2,c.C10032T,p.S3344S,SNP,SNVindel,exonic,MUC12,NA,synonymous SNV,MUC12:NM_001164462:exon2:c.C10032T:p.S3344S,NA,NA,NA,NA,NA,NA
chr7,100683008,100683008,G,A,P293977_F,MUC17,Missense_Mutation,NM_001040105,exon3,c.G8311A,p.V2771I,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.G8311A:p.V2771I,T,.,N,T,N,T
chr7,148112563,148112563,G,A,P293977_F,CNTNAP2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CNTNAP2,NA,unknown,UNKNOWN,D,D,D,T,D,T
chr7,151962244,151962244,C,G,P293977_F,KMT2C,Missense_Mutation,NM_170606,exon8,c.G1063C,p.D355H,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon8:c.G1063C:p.D355H,D,U,D,D,D,D
chr8,22138983,22138983,C,T,P293977_F,PIWIL2,Missense_Mutation,NM_001135721,exon4,c.C380T,p.A127V,SNP,SNVindel,exonic,PIWIL2,NA,nonsynonymous SNV,"PIWIL2:NM_001135721:exon4:c.C380T:p.A127V,PIWIL2:NM_001330480:exon4:c.C380T:p.A127V,PIWIL2:NM_018068:exon4:c.C380T:p.A127V",D,D,D,T,N,T
chr9,286580,286580,C,T,P293977_F,DOCK8,Silent,NM_001190458,exon2,c.C72T,p.D24D,SNP,SNVindel,exonic,DOCK8,NA,synonymous SNV,"DOCK8:NM_001190458:exon2:c.C72T:p.D24D,DOCK8:NM_001193536:exon2:c.C72T:p.D24D,DOCK8:NM_203447:exon3:c.C276T:p.D92D",NA,NA,NA,NA,NA,NA
chr9,5066739,5066739,C,T,P293977_F,JAK2,Nonsense_Mutation,NM_001322204,exon7,c.C829T,p.R277X,SNP,SNVindel,exonic,JAK2,NA,stopgain,"JAK2:NM_001322204:exon7:c.C829T:p.R277X,JAK2:NM_001322195:exon9:c.C1276T:p.R426X,JAK2:NM_001322196:exon9:c.C1276T:p.R426X,JAK2:NM_001322194:exon10:c.C1276T:p.R426X,JAK2:NM_001322198:exon10:c.C61T:p.R21X,JAK2:NM_001322199:exon10:c.C61T:p.R21X,JAK2:NM_004972:exon10:c.C1276T:p.R426X",.,D,A,.,.,.
chr9,33541216,33541216,G,C,P293977_F,ANKRD18B,Missense_Mutation,NM_001353432,exon7,c.G880C,p.G294R,SNP,SNVindel,exonic,ANKRD18B,NA,nonsynonymous SNV,ANKRD18B:NM_001353432:exon7:c.G880C:p.G294R,T,.,.,T,N,T
chr10,15821131,15821131,C,T,P293977_F,MINDY3,Missense_Mutation,NM_001318330,exon14,c.G679A,p.V227I,SNP,SNVindel,exonic,MINDY3,NA,nonsynonymous SNV,"MINDY3:NM_001318330:exon14:c.G679A:p.V227I,MINDY3:NM_024948:exon15:c.G1198A:p.V400I",T,D,D,T,N,T
chr10,33545305,33545305,G,A,P293977_F,NRP1,Silent,NM_001024628,exon5,c.C753T,p.S251S,SNP,SNVindel,exonic,NRP1,NA,synonymous SNV,"NRP1:NM_001024628:exon5:c.C753T:p.S251S,NRP1:NM_001024629:exon5:c.C753T:p.S251S,NRP1:NM_001244972:exon5:c.C753T:p.S251S,NRP1:NM_001244973:exon5:c.C753T:p.S251S,NRP1:NM_001330068:exon5:c.C753T:p.S251S,NRP1:NM_003873:exon5:c.C753T:p.S251S",NA,NA,NA,NA,NA,NA
chr10,99126309,99126309,C,T,P293977_F,RRP12,Silent,NM_001284337,exon25,c.G2985A,p.K995K,SNP,SNVindel,exonic,RRP12,NA,synonymous SNV,"RRP12:NM_001284337:exon25:c.G2985A:p.K995K,RRP12:NM_001145114:exon26:c.G3102A:p.K1034K,RRP12:NM_015179:exon28:c.G3285A:p.K1095K",NA,NA,NA,NA,NA,NA
chr10,124034608,124034608,G,A,P293977_F,BTBD16,Silent,NM_001318189,exon2,c.G12A,p.S4S,SNP,SNVindel,exonic,BTBD16,NA,synonymous SNV,"BTBD16:NM_001318189:exon2:c.G12A:p.S4S,BTBD16:NM_144587:exon2:c.G12A:p.S4S",NA,NA,NA,NA,NA,NA
chr11,35218373,35218373,C,G,P293977_F,CD44,Missense_Mutation,NM_000610,exon6,c.C748G,p.L250V,SNP,SNVindel,exonic,CD44,NA,nonsynonymous SNV,CD44:NM_000610:exon6:c.C748G:p.L250V,T,N,N,T,N,T
chr11,56058391,56058391,G,A,P293977_F,OR8H1,Missense_Mutation,NM_001005199,exon1,c.C148T,p.R50C,SNP,SNVindel,exonic,OR8H1,NA,nonsynonymous SNV,OR8H1:NM_001005199:exon1:c.C148T:p.R50C,T,N,N,T,D,T
chr11,61723277,61723277,G,A,P293977_F,BEST1,Missense_Mutation,NM_001363591,exon2,c.G17A,p.G6D,SNP,SNVindel,exonic,BEST1,NA,nonsynonymous SNV,"BEST1:NM_001363591:exon2:c.G17A:p.G6D,BEST1:NM_001139443:exon3:c.G155A:p.G52D,BEST1:NM_001300786:exon3:c.G155A:p.G52D,BEST1:NM_001300787:exon3:c.G155A:p.G52D,BEST1:NM_001363592:exon4:c.G335A:p.G112D,BEST1:NM_004183:exon4:c.G335A:p.G112D",D,N,D,D,D,D
chr11,62295933,62295933,T,C,P293977_F,AHNAK,Missense_Mutation,NM_001346445,exon5,c.A5956G,p.T1986A,SNP,SNVindel,exonic,AHNAK,NA,nonsynonymous SNV,"AHNAK:NM_001346445:exon5:c.A5956G:p.T1986A,AHNAK:NM_001346446:exon5:c.A5956G:p.T1986A,AHNAK:NM_001620:exon5:c.A5956G:p.T1986A",T,.,N,T,N,T
chr11,77824999,77824999,C,G,P293977_F,ALG8,Missense_Mutation,NM_001007027,exon7,c.G710C,p.R237P,SNP,SNVindel,exonic,ALG8,NA,nonsynonymous SNV,"ALG8:NM_001007027:exon7:c.G710C:p.R237P,ALG8:NM_024079:exon7:c.G710C:p.R237P",D,D,D,D,D,D
chr11,118506246,118506246,C,T,P293977_F,PHLDB1,Missense_Mutation,NM_001144758,exon10,c.C2515T,p.R839C,SNP,SNVindel,exonic,PHLDB1,NA,nonsynonymous SNV,"PHLDB1:NM_001144758:exon10:c.C2515T:p.R839C,PHLDB1:NM_001144759:exon10:c.C2515T:p.R839C,PHLDB1:NM_015157:exon11:c.C2515T:p.R839C",T,D,D,T,D,T
chr11,123886711,123886711,G,A,P293977_F,OR10G4,Missense_Mutation,NM_001004462,exon1,c.G430A,p.A144T,SNP,SNVindel,exonic,OR10G4,NA,nonsynonymous SNV,OR10G4:NM_001004462:exon1:c.G430A:p.A144T,T,N,N,T,N,T
chr12,31850875,31850875,A,C,P293977_F,AMN1,Silent,NM_001113402,exon4,c.T333G,p.A111A,SNP,SNVindel,exonic,AMN1,NA,synonymous SNV,"AMN1:NM_001113402:exon4:c.T333G:p.A111A,AMN1:NM_001278411:exon4:c.T279G:p.A93A,AMN1:NM_001278412:exon6:c.T279G:p.A93A",NA,NA,NA,NA,NA,NA
chr12,40881225,40881225,A,C,P293977_F,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,46285589,46285589,T,C,P293977_F,ARID2,Missense_Mutation,NM_001347839,exon17,c.T4949C,p.F1650S,SNP,SNVindel,exonic,ARID2,NA,nonsynonymous SNV,"ARID2:NM_001347839:exon17:c.T4949C:p.F1650S,ARID2:NM_152641:exon17:c.T4949C:p.F1650S",D,D,D,T,D,T
chr12,50453701,50453701,C,G,P293977_F,ASIC1,Missense_Mutation,NM_001095,exon3,c.C522G,p.F174L,SNP,SNVindel,exonic,ASIC1,NA,nonsynonymous SNV,"ASIC1:NM_001095:exon3:c.C522G:p.F174L,ASIC1:NM_020039:exon3:c.C522G:p.F174L",D,D,D,T,D,T
chr12,53421578,53421578,G,A,P293977_F,EIF4B,Missense_Mutation,NM_001330654,exon6,c.G563A,p.R188H,SNP,SNVindel,exonic,EIF4B,NA,nonsynonymous SNV,"EIF4B:NM_001330654:exon6:c.G563A:p.R188H,EIF4B:NM_001300821:exon7:c.G680A:p.R227H,EIF4B:NM_001417:exon7:c.G680A:p.R227H",T,D,D,T,N,T
chr12,112509774,112509774,G,A,P293977_F,NAA25,Nonsense_Mutation,NM_024953,exon10,c.C961T,p.R321X,SNP,SNVindel,exonic,NAA25,NA,stopgain,NAA25:NM_024953:exon10:c.C961T:p.R321X,.,D,A,.,.,.
chr12,133810751,133810751,C,T,P293977_F,ANHX,Silent,NM_001191054,exon2,c.G192A,p.A64A,SNP,SNVindel,exonic,ANHX,NA,synonymous SNV,ANHX:NM_001191054:exon2:c.G192A:p.A64A,NA,NA,NA,NA,NA,NA
chr13,46638872,46638872,C,T,P293977_F,CPB2,Missense_Mutation,NM_001278541,exon7,c.G596A,p.R199Q,SNP,SNVindel,exonic,CPB2,NA,nonsynonymous SNV,"CPB2:NM_001278541:exon7:c.G596A:p.R199Q,CPB2:NM_001872:exon8:c.G707A:p.R236Q",D,D,D,T,D,D
chr14,96783620,96783620,C,T,P293977_F,ATG2B,Silent,NM_018036,exon20,c.G3072A,p.Q1024Q,SNP,SNVindel,exonic,ATG2B,NA,synonymous SNV,ATG2B:NM_018036:exon20:c.G3072A:p.Q1024Q,NA,NA,NA,NA,NA,NA
chr14,100795247,100795247,G,A,P293977_F,SLC25A47,Missense_Mutation,NM_001350877,exon5,c.G74A,p.R25H,SNP,SNVindel,exonic,SLC25A47,NA,nonsynonymous SNV,"SLC25A47:NM_001350877:exon5:c.G74A:p.R25H,SLC25A47:NM_207117:exon5:c.G512A:p.R171H",D,N,D,T,D,T
chr15,78927921,78927921,G,A,P293977_F,CHRNB4,Missense_Mutation,NM_000750,exon2,c.C64T,p.R22C,SNP,SNVindel,exonic,CHRNB4,NA,nonsynonymous SNV,"CHRNB4:NM_000750:exon2:c.C64T:p.R22C,CHRNB4:NM_001256567:exon2:c.C64T:p.R22C",T,N,N,T,N,T
chr15,89074188,89074188,A,G,P293977_F,DET1,Missense_Mutation,NM_001144074,exon2,c.T749C,p.F250S,SNP,SNVindel,exonic,DET1,NA,nonsynonymous SNV,"DET1:NM_001144074:exon2:c.T749C:p.F250S,DET1:NM_001321596:exon3:c.T749C:p.F250S,DET1:NM_017996:exon3:c.T782C:p.F261S,DET1:NM_001321594:exon4:c.T647C:p.F216S",D,D,D,.,D,T
chr15,90610402,90610402,G,A,P293977_F,ZNF710,Silent,NM_198526,exon2,c.G33A,p.T11T,SNP,SNVindel,exonic,ZNF710,NA,synonymous SNV,ZNF710:NM_198526:exon2:c.G33A:p.T11T,NA,NA,NA,NA,NA,NA
chr15,99511844,99511844,G,A,P293977_F,PGPEP1L,Missense_Mutation,NM_001102612,exon5,c.C454T,p.R152C,SNP,SNVindel,exonic,PGPEP1L,NA,nonsynonymous SNV,"PGPEP1L:NM_001102612:exon5:c.C454T:p.R152C,PGPEP1L:NM_001167902:exon5:c.C292T:p.R98C",D,N,N,T,D,T
chr16,1268395,1268395,C,T,P293977_F,CACNA1H,Silent,NM_001005407,exon32,c.C5613T,p.D1871D,SNP,SNVindel,exonic,CACNA1H,NA,synonymous SNV,"CACNA1H:NM_001005407:exon32:c.C5613T:p.D1871D,CACNA1H:NM_021098:exon33:c.C5631T:p.D1877D",NA,NA,NA,NA,NA,NA
chr16,2134546,2134546,C,T,P293977_F,TSC2,Silent,NM_001318831,exon30,c.C3591T,p.P1197P,SNP,SNVindel,exonic,TSC2,NA,synonymous SNV,"TSC2:NM_001318831:exon30:c.C3591T:p.P1197P,TSC2:NM_001318827:exon31:c.C4014T:p.P1338P,TSC2:NM_001318829:exon31:c.C3978T:p.P1326P,TSC2:NM_001077183:exon32:c.C4122T:p.P1374P,TSC2:NM_001318832:exon32:c.C4155T:p.P1385P,TSC2:NM_001363528:exon32:c.C4125T:p.P1375P,TSC2:NM_001114382:exon33:c.C4254T:p.P1418P,TSC2:NM_001370404:exon33:c.C4191T:p.P1397P,TSC2:NM_001370405:exon33:c.C4194T:p.P1398P,TSC2:NM_021055:exon33:c.C4194T:p.P1398P,TSC2:NM_000548:exon34:c.C4323T:p.P1441P",NA,NA,NA,NA,NA,NA
chr16,3706128,3706128,G,A,P293977_F,DNASE1,Missense_Mutation,NM_005223,exon4,c.G262A,p.V88M,SNP,SNVindel,exonic,DNASE1,NA,nonsynonymous SNV,"DNASE1:NM_005223:exon4:c.G262A:p.V88M,DNASE1:NM_001351825:exon5:c.G262A:p.V88M",D,D,D,T,N,T
chr16,10626779,10626779,G,A,P293977_F,EMP2,Silent,NM_001424,exon5,c.C487T,p.L163L,SNP,SNVindel,exonic,EMP2,NA,synonymous SNV,EMP2:NM_001424:exon5:c.C487T:p.L163L,NA,NA,NA,NA,NA,NA
chr16,88598487,88598487,T,G,P293977_F,ZFPM1,Missense_Mutation,NM_153813,exon7,c.T790G,p.C264G,SNP,SNVindel,exonic,ZFPM1,NA,nonsynonymous SNV,ZFPM1:NM_153813:exon7:c.T790G:p.C264G,D,U,D,T,D,T
chr17,4800560,4800560,G,A,P293977_F,MINK1,Missense_Mutation,NM_015716,exon31,c.G3866A,p.R1289H,SNP,SNVindel,exonic,MINK1,NA,nonsynonymous SNV,"MINK1:NM_015716:exon31:c.G3866A:p.R1289H,MINK1:NM_001024937:exon32:c.G3917A:p.R1306H,MINK1:NM_001321236:exon32:c.G3701A:p.R1234H,MINK1:NM_153827:exon32:c.G3977A:p.R1326H,MINK1:NM_170663:exon32:c.G3890A:p.R1297H",D,D,D,T,D,D
chr17,5364410,5364410,G,A,P293977_F,DHX33,Missense_Mutation,NM_001199699,exon3,c.C179T,p.T60M,SNP,SNVindel,exonic,DHX33,NA,nonsynonymous SNV,"DHX33:NM_001199699:exon3:c.C179T:p.T60M,DHX33:NM_020162:exon4:c.C698T:p.T233M",D,D,D,T,D,D
chr17,7577538,7577538,C,T,P293977_F,TP53,Missense_Mutation,NM_001126115,exon3,c.G347A,p.R116Q,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon3:c.G347A:p.R116Q,TP53:NM_001126116:exon3:c.G347A:p.R116Q,TP53:NM_001126117:exon3:c.G347A:p.R116Q,TP53:NM_001276697:exon3:c.G266A:p.R89Q,TP53:NM_001276698:exon3:c.G266A:p.R89Q,TP53:NM_001276699:exon3:c.G266A:p.R89Q,TP53:NM_001126118:exon6:c.G626A:p.R209Q,TP53:NM_000546:exon7:c.G743A:p.R248Q,TP53:NM_001126112:exon7:c.G743A:p.R248Q,TP53:NM_001126113:exon7:c.G743A:p.R248Q,TP53:NM_001126114:exon7:c.G743A:p.R248Q,TP53:NM_001276695:exon7:c.G626A:p.R209Q,TP53:NM_001276696:exon7:c.G626A:p.R209Q,TP53:NM_001276760:exon7:c.G626A:p.R209Q,TP53:NM_001276761:exon7:c.G626A:p.R209Q",D,D,A,D,D,D
chr17,54428135,54428135,G,A,P293977_F,ANKFN1,Missense_Mutation,NM_153228,exon4,c.G206A,p.R69H,SNP,SNVindel,exonic,ANKFN1,NA,nonsynonymous SNV,"ANKFN1:NM_153228:exon4:c.G206A:p.R69H,ANKFN1:NM_001370326:exon5:c.G197A:p.R66H",T,N,N,T,N,T
chr18,47431168,47431168,C,T,P293977_F,MYO5B,Silent,NM_001080467,exon20,c.G2445A,p.A815A,SNP,SNVindel,exonic,MYO5B,NA,synonymous SNV,MYO5B:NM_001080467:exon20:c.G2445A:p.A815A,NA,NA,NA,NA,NA,NA
chr19,3543840,3543840,C,T,P293977_F,C19orf71,Silent,NM_001135580,exon4,c.C462T,p.N154N,SNP,SNVindel,exonic,C19orf71,NA,synonymous SNV,C19orf71:NM_001135580:exon4:c.C462T:p.N154N,NA,NA,NA,NA,NA,NA
chr19,5785648,5785648,G,A,P293977_F,DUS3L,Missense_Mutation,NM_001161619,exon10,c.C991T,p.R331C,SNP,SNVindel,exonic,DUS3L,NA,nonsynonymous SNV,"DUS3L:NM_001161619:exon10:c.C991T:p.R331C,DUS3L:NM_020175:exon11:c.C1717T:p.R573C",D,N,D,T,D,T
chr19,6924788,6924788,C,T,P293977_F,ADGRE1,Nonsense_Mutation,NM_001256254,exon12,c.C1468T,p.R490X,SNP,SNVindel,exonic,ADGRE1,NA,stopgain,"ADGRE1:NM_001256254:exon12:c.C1468T:p.R490X,ADGRE1:NM_001256255:exon12:c.C1360T:p.R454X,ADGRE1:NM_001256252:exon14:c.C1735T:p.R579X,ADGRE1:NM_001974:exon15:c.C1891T:p.R631X",.,.,A,.,.,.
chr19,8610551,8610551,G,A,P293977_F,MYO1F,Missense_Mutation,NM_001348355,exon13,c.C1327T,p.L443F,SNP,SNVindel,exonic,MYO1F,NA,nonsynonymous SNV,"MYO1F:NM_001348355:exon13:c.C1327T:p.L443F,MYO1F:NM_012335:exon13:c.C1339T:p.L447F",D,D,D,D,D,D
chr19,14268129,14268129,G,C,P293977_F,ADGRL1,Missense_Mutation,NM_014921,exon14,c.C2679G,p.N893K,SNP,SNVindel,exonic,ADGRL1,NA,nonsynonymous SNV,"ADGRL1:NM_014921:exon14:c.C2679G:p.N893K,ADGRL1:NM_001008701:exon15:c.C2694G:p.N898K",D,D,D,T,D,T
chr19,16617533,16617533,C,T,P293977_F,C19orf44,Missense_Mutation,NM_001288834,exon4,c.C1097T,p.S366L,SNP,SNVindel,exonic,C19orf44,NA,nonsynonymous SNV,"C19orf44:NM_001288834:exon4:c.C1097T:p.S366L,C19orf44:NM_032207:exon4:c.C1097T:p.S366L",D,N,N,.,D,T
chr19,34960007,34960007,G,A,P293977_F,UBA2,Missense_Mutation,NM_005499,exon17,c.G1804A,p.D602N,SNP,SNVindel,exonic,UBA2,NA,nonsynonymous SNV,UBA2:NM_005499:exon17:c.G1804A:p.D602N,T,D,D,T,N,T
chr19,37880351,37880351,A,G,P293977_F,ZNF527,Missense_Mutation,NM_032453,exon5,c.A1400G,p.E467G,SNP,SNVindel,exonic,ZNF527,NA,nonsynonymous SNV,ZNF527:NM_032453:exon5:c.A1400G:p.E467G,.,N,D,T,.,T
chr19,48996969,48996969,G,A,P293977_F,LMTK3,Silent,NM_001080434,exon13,c.C4161T,p.T1387T,SNP,SNVindel,exonic,LMTK3,NA,synonymous SNV,LMTK3:NM_001080434:exon13:c.C4161T:p.T1387T,NA,NA,NA,NA,NA,NA
chr19,50172406,50172406,C,T,P293977_F,BCL2L12,Nonsense_Mutation,NM_001282519,exon5,c.C715T,p.Q239X,SNP,SNVindel,exonic,BCL2L12,NA,stopgain,BCL2L12:NM_001282519:exon5:c.C715T:p.Q239X,.,.,N,.,.,.
chr19,50780080,50780080,G,A,P293977_F,MYH14,Silent,NM_024729,exon27,c.G3624A,p.E1208E,SNP,SNVindel,exonic,MYH14,NA,synonymous SNV,"MYH14:NM_024729:exon27:c.G3624A:p.E1208E,MYH14:NM_001077186:exon28:c.G3648A:p.E1216E,MYH14:NM_001145809:exon29:c.G3747A:p.E1249E",NA,NA,NA,NA,NA,NA
chr19,56009521,56009521,G,A,P293977_F,SSC5D,Silent,NM_001144950,exon9,c.G1662A,p.K554K,SNP,SNVindel,exonic,SSC5D,NA,synonymous SNV,"SSC5D:NM_001144950:exon9:c.G1662A:p.K554K,SSC5D:NM_001195267:exon9:c.G1662A:p.K554K",NA,NA,NA,NA,NA,NA
chr20,25002097,25002097,C,T,P293977_F,ACSS1,Missense_Mutation,NM_001252676,exon5,c.G673A,p.V225M,SNP,SNVindel,exonic,ACSS1,NA,nonsynonymous SNV,"ACSS1:NM_001252676:exon5:c.G673A:p.V225M,ACSS1:NM_001252675:exon6:c.G1036A:p.V346M,ACSS1:NM_001252677:exon6:c.G1036A:p.V346M,ACSS1:NM_032501:exon6:c.G1036A:p.V346M",D,D,D,T,N,T
chr20,30897909,30897909,G,A,P293977_F,KIF3B,Missense_Mutation,NM_004798,exon2,c.G329A,p.R110H,SNP,SNVindel,exonic,KIF3B,NA,nonsynonymous SNV,KIF3B:NM_004798:exon2:c.G329A:p.R110H,T,D,D,T,N,T
chr22,23915574,23915574,G,A,P293977_F,IGLL1,Missense_Mutation,NM_001369906,exon3,c.C524T,p.A175V,SNP,SNVindel,exonic,IGLL1,NA,nonsynonymous SNV,"IGLL1:NM_001369906:exon3:c.C524T:p.A175V,IGLL1:NM_020070:exon3:c.C521T:p.A174V",T,N,N,T,N,T
chrX,67937363,67937363,C,T,P293977_F,STARD8,Missense_Mutation,NM_001142504,exon5,c.C367T,p.R123C,SNP,SNVindel,exonic,STARD8,NA,nonsynonymous SNV,"STARD8:NM_001142504:exon5:c.C367T:p.R123C,STARD8:NM_014725:exon5:c.C367T:p.R123C,STARD8:NM_001142503:exon6:c.C607T:p.R203C",D,.,N,T,D,T
chrX,78216918,78216918,G,T,P293977_F,P2RY10,Missense_Mutation,NM_198333,exon2,c.G901T,p.D301Y,SNP,SNVindel,exonic,P2RY10,NA,nonsynonymous SNV,"P2RY10:NM_198333:exon2:c.G901T:p.D301Y,P2RY10:NM_001324218:exon3:c.G901T:p.D301Y,P2RY10:NM_001324221:exon3:c.G952T:p.D318Y,P2RY10:NM_001324225:exon4:c.G976T:p.D326Y,P2RY10:NM_014499:exon4:c.G901T:p.D301Y",D,D,D,T,D,D
chrX,117527163,117527163,G,A,P293977_F,WDR44,Missense_Mutation,NM_001184966,exon3,c.G680A,p.R227Q,SNP,SNVindel,exonic,WDR44,NA,nonsynonymous SNV,"WDR44:NM_001184966:exon3:c.G680A:p.R227Q,WDR44:NM_001184965:exon4:c.G755A:p.R252Q,WDR44:NM_019045:exon4:c.G755A:p.R252Q",D,N,D,T,N,T
chrX,153599556,153599556,C,T,P293977_F,FLNA,Missense_Mutation,NM_001110556,exon2,c.G58A,p.G20S,SNP,SNVindel,exonic,FLNA,NA,nonsynonymous SNV,"FLNA:NM_001110556:exon2:c.G58A:p.G20S,FLNA:NM_001456:exon2:c.G58A:p.G20S",T,N,N,D,N,T
chr1,2543578,2543578,G,A,P293977_S,MMEL1,Nonsense_Mutation,NM_033467,exon3,c.C220T,p.R74X,SNP,SNVindel,exonic,MMEL1,NA,stopgain,MMEL1:NM_033467:exon3:c.C220T:p.R74X,.,U,A,.,.,.
chr1,6270962,6270962,G,A,P293977_S,RNF207,Silent,NM_207396,exon11,c.G975A,p.T325T,SNP,SNVindel,exonic,RNF207,NA,synonymous SNV,RNF207:NM_207396:exon11:c.G975A:p.T325T,NA,NA,NA,NA,NA,NA
chr1,16903848,16903848,T,A,P293977_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,24175148,24175148,G,T,P293977_S,FUCA1,Missense_Mutation,NM_000147,exon6,c.C1151A,p.T384K,SNP,SNVindel,exonic,FUCA1,NA,nonsynonymous SNV,FUCA1:NM_000147:exon6:c.C1151A:p.T384K,T,N,N,T,N,T
chr1,43719809,43719809,C,T,P293977_S,CFAP57,Missense_Mutation,NM_001195831,exon24,c.C3799T,p.R1267W,SNP,SNVindel,exonic,CFAP57,NA,nonsynonymous SNV,CFAP57:NM_001195831:exon24:c.C3799T:p.R1267W,D,N,N,T,D,T
chr1,51439676,51439676,G,T,P293977_S,CDKN2C,Missense_Mutation,NM_078626,exon2,c.G241T,p.G81C,SNP,SNVindel,exonic,CDKN2C,NA,nonsynonymous SNV,"CDKN2C:NM_078626:exon2:c.G241T:p.G81C,CDKN2C:NM_001262:exon3:c.G241T:p.G81C",D,D,D,T,D,D
chr1,154571012,154571012,C,T,P293977_S,ADAR,Missense_Mutation,NM_001025107,exon3,c.G766A,p.A256T,SNP,SNVindel,exonic,ADAR,NA,nonsynonymous SNV,"ADAR:NM_001025107:exon3:c.G766A:p.A256T,ADAR:NM_001111:exon3:c.G1651A:p.A551T,ADAR:NM_001193495:exon3:c.G766A:p.A256T,ADAR:NM_001365045:exon3:c.G1678A:p.A560T,ADAR:NM_001365048:exon3:c.G766A:p.A256T,ADAR:NM_015840:exon3:c.G1651A:p.A551T,ADAR:NM_015841:exon3:c.G1651A:p.A551T,ADAR:NM_001365046:exon4:c.G766A:p.A256T,ADAR:NM_001365047:exon4:c.G766A:p.A256T,ADAR:NM_001365049:exon4:c.G766A:p.A256T",D,D,D,T,N,D
chr1,237001841,237001841,G,A,P293977_S,MTR,Missense_Mutation,NM_001291940,exon14,c.G236A,p.R79K,SNP,SNVindel,exonic,MTR,NA,nonsynonymous SNV,"MTR:NM_001291940:exon14:c.G236A:p.R79K,MTR:NM_000254:exon15:c.G1457A:p.R486K,MTR:NM_001291939:exon15:c.G1457A:p.R486K",T,N,N,D,N,T
chr2,26203265,26203265,C,T,P293977_S,KIF3C,Missense_Mutation,NM_002254,exon1,c.G1522A,p.E508K,SNP,SNVindel,exonic,KIF3C,NA,nonsynonymous SNV,KIF3C:NM_002254:exon1:c.G1522A:p.E508K,T,D,D,T,D,T
chr2,73430055,73430055,C,T,P293977_S,NOTO,Silent,NM_001134462,exon1,c.C261T,p.T87T,SNP,SNVindel,exonic,NOTO,NA,synonymous SNV,NOTO:NM_001134462:exon1:c.C261T:p.T87T,NA,NA,NA,NA,NA,NA
chr2,96521220,96521220,G,A,P293977_S,ANKRD36C,Silent,NM_001310154,exon84,c.C5887T,p.L1963L,SNP,SNVindel,exonic,ANKRD36C,NA,synonymous SNV,ANKRD36C:NM_001310154:exon84:c.C5887T:p.L1963L,NA,NA,NA,NA,NA,NA
chr2,97757206,97757206,C,G,P293977_S,FAHD2B,Missense_Mutation,NM_001320849,exon2,c.G238C,p.A80P,SNP,SNVindel,exonic,FAHD2B,NA,nonsynonymous SNV,"FAHD2B:NM_001320849:exon2:c.G238C:p.A80P,FAHD2B:NM_199336:exon2:c.G238C:p.A80P,FAHD2B:NM_001320848:exon3:c.G238C:p.A80P",D,D,D,T,D,T
chr2,114697580,114697580,C,T,P293977_S,ACTR3,Silent,NM_001277140,exon7,c.C432T,p.I144I,SNP,SNVindel,exonic,ACTR3,NA,synonymous SNV,"ACTR3:NM_001277140:exon7:c.C432T:p.I144I,ACTR3:NM_005721:exon7:c.C585T:p.I195I",NA,NA,NA,NA,NA,NA
chr2,133540406,133540406,G,C,P293977_S,NCKAP5,Silent,NM_207363,exon14,c.C3978G,p.A1326A,SNP,SNVindel,exonic,NCKAP5,NA,synonymous SNV,NCKAP5:NM_207363:exon14:c.C3978G:p.A1326A,NA,NA,NA,NA,NA,NA
chr2,170592513,170592513,C,T,P293977_S,KLHL23,Missense_Mutation,NM_144711,exon2,c.C989T,p.T330M,SNP,SNVindel,exonic,KLHL23;PHOSPHO2-KLHL23,NA,nonsynonymous SNV,"KLHL23:NM_144711:exon2:c.C989T:p.T330M,PHOSPHO2-KLHL23:NM_001199290:exon4:c.C989T:p.T330M",D,D,.,T,N,D
chr2,228882723,228882723,A,T,P293977_S,SPHKAP,Silent,NM_001142644,exon7,c.T2847A,p.L949L,SNP,SNVindel,exonic,SPHKAP,NA,synonymous SNV,"SPHKAP:NM_001142644:exon7:c.T2847A:p.L949L,SPHKAP:NM_030623:exon7:c.T2847A:p.L949L",NA,NA,NA,NA,NA,NA
chr2,241889892,241889892,G,C,P293977_S,CROCC2,Missense_Mutation,NM_001351305,exon18,c.G2794C,p.E932Q,SNP,SNVindel,exonic,CROCC2,NA,nonsynonymous SNV,CROCC2:NM_001351305:exon18:c.G2794C:p.E932Q,.,.,.,.,.,T
chr3,9106130,9106130,G,A,P293977_S,SRGAP3,Missense_Mutation,NM_001033117,exon5,c.C622T,p.R208W,SNP,SNVindel,exonic,SRGAP3,NA,nonsynonymous SNV,"SRGAP3:NM_001033117:exon5:c.C622T:p.R208W,SRGAP3:NM_014850:exon5:c.C622T:p.R208W",D,D,D,T,D,T
chr3,107491538,107491538,G,A,P293977_S,BBX,Missense_Mutation,NM_001142568,exon11,c.G970A,p.D324N,SNP,SNVindel,exonic,BBX,NA,nonsynonymous SNV,"BBX:NM_001142568:exon11:c.G970A:p.D324N,BBX:NM_020235:exon11:c.G970A:p.D324N",T,N,D,D,N,D
chr4,4461147,4461147,T,C,P293977_S,STX18,Missense_Mutation,NM_001346300,exon2,c.A61G,p.I21V,SNP,SNVindel,exonic,STX18,NA,nonsynonymous SNV,"STX18:NM_001346300:exon2:c.A61G:p.I21V,STX18:NM_001346281:exon3:c.A304G:p.I102V,STX18:NM_001346282:exon3:c.A61G:p.I21V,STX18:NM_016930:exon3:c.A304G:p.I102V",T,N,D,T,N,T
chr4,108574659,108574659,C,G,P293977_S,PAPSS1,Missense_Mutation,NM_005443,exon9,c.G1225C,p.D409H,SNP,SNVindel,exonic,PAPSS1,NA,nonsynonymous SNV,PAPSS1:NM_005443:exon9:c.G1225C:p.D409H,D,D,D,T,N,T
chr4,138452480,138452480,G,C,P293977_S,PCDH18,Missense_Mutation,NM_001300828,exon1,c.C763G,p.L255V,SNP,SNVindel,exonic,PCDH18,NA,nonsynonymous SNV,"PCDH18:NM_001300828:exon1:c.C763G:p.L255V,PCDH18:NM_019035:exon1:c.C763G:p.L255V",T,U,D,T,N,T
chr4,169632982,169632982,C,G,P293977_S,PALLD,Missense_Mutation,NM_001166109,exon9,c.C726G,p.N242K,SNP,SNVindel,exonic,PALLD,NA,nonsynonymous SNV,"PALLD:NM_001166109:exon9:c.C726G:p.N242K,PALLD:NM_001166108:exon10:c.C1872G:p.N624K,PALLD:NM_016081:exon10:c.C1872G:p.N624K",D,U,N,T,D,T
chr5,1879693,1879693,A,T,P293977_S,IRX4,Missense_Mutation,NM_016358,exon4,c.T661A,p.Y221N,SNP,SNVindel,exonic,IRX4,NA,nonsynonymous SNV,"IRX4:NM_016358:exon4:c.T661A:p.Y221N,IRX4:NM_001278632:exon5:c.T661A:p.Y221N,IRX4:NM_001278634:exon5:c.T661A:p.Y221N,IRX4:NM_001278633:exon6:c.T739A:p.Y247N,IRX4:NM_001278635:exon6:c.T739A:p.Y247N",T,N,D,T,D,T
chr5,45303704,45303704,C,A,P293977_S,HCN1,Nonsense_Mutation,NM_021072,exon6,c.G1615T,p.G539X,SNP,SNVindel,exonic,HCN1,NA,stopgain,HCN1:NM_021072:exon6:c.G1615T:p.G539X,.,D,A,.,.,.
chr5,49699205,49699205,C,A,P293977_S,EMB,Missense_Mutation,NM_198449,exon6,c.G684T,p.L228F,SNP,SNVindel,exonic,EMB,NA,nonsynonymous SNV,EMB:NM_198449:exon6:c.G684T:p.L228F,T,N,N,T,N,T
chr5,74091905,74091905,G,A,P293977_S,FAM169A,Missense_Mutation,NM_015566,exon11,c.C1210T,p.R404W,SNP,SNVindel,exonic,FAM169A,NA,nonsynonymous SNV,FAM169A:NM_015566:exon11:c.C1210T:p.R404W,T,N,N,T,N,T
chr5,75581073,75581073,G,A,P293977_S,SV2C,Missense_Mutation,NM_001297716,exon5,c.G1000A,p.V334M,SNP,SNVindel,exonic,SV2C,NA,nonsynonymous SNV,"SV2C:NM_001297716:exon5:c.G1000A:p.V334M,SV2C:NM_014979:exon5:c.G1000A:p.V334M",T,D,D,T,N,T
chr5,140567139,140567139,A,T,P293977_S,PCDHB9,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PCDHB9,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr5,140734951,140734951,C,T,P293977_S,PCDHGA4,Missense_Mutation,NM_018917,exon1,c.C277T,p.R93C,SNP,SNVindel,exonic,PCDHGA4,NA,nonsynonymous SNV,"PCDHGA4:NM_018917:exon1:c.C277T:p.R93C,PCDHGA4:NM_032053:exon1:c.C277T:p.R93C",.,.,D,.,.,.
chr5,149505128,149505128,C,T,P293977_S,PDGFRB,Missense_Mutation,NM_001355016,exon11,c.G1495A,p.E499K,SNP,SNVindel,exonic,PDGFRB,NA,nonsynonymous SNV,"PDGFRB:NM_001355016:exon11:c.G1495A:p.E499K,PDGFRB:NM_001355017:exon12:c.G1204A:p.E402K,PDGFRB:NM_002609:exon12:c.G1687A:p.E563K",D,D,D,D,D,D
chr7,38869895,38869895,C,T,P293977_S,VPS41,Missense_Mutation,NM_014396,exon5,c.G280A,p.E94K,SNP,SNVindel,exonic,VPS41,NA,nonsynonymous SNV,VPS41:NM_014396:exon5:c.G280A:p.E94K,T,D,D,T,N,T
chr7,55249022,55249022,G,A,P293977_S,EGFR,Missense_Mutation,NM_001346941,exon14,c.G1519A,p.V507M,SNP,SNVindel,exonic,EGFR,NA,nonsynonymous SNV,"EGFR:NM_001346941:exon14:c.G1519A:p.V507M,EGFR:NM_001346897:exon19:c.G2185A:p.V729M,EGFR:NM_001346899:exon19:c.G2185A:p.V729M,EGFR:NM_001346898:exon20:c.G2320A:p.V774M,EGFR:NM_001346900:exon20:c.G2161A:p.V721M,EGFR:NM_005228:exon20:c.G2320A:p.V774M",D,D,D,T,N,D
chr7,99751584,99751584,C,T,P293977_S,LAMTOR4,Silent,NM_001318237,exon3,c.C216T,p.V72V,SNP,SNVindel,exonic,LAMTOR4,NA,synonymous SNV,"LAMTOR4:NM_001318237:exon3:c.C216T:p.V72V,LAMTOR4:NM_001008395:exon4:c.C297T:p.V99V",NA,NA,NA,NA,NA,NA
chr7,100643876,100643876,C,T,P293977_S,MUC12,Silent,NM_001164462,exon2,c.C10032T,p.S3344S,SNP,SNVindel,exonic,MUC12,NA,synonymous SNV,MUC12:NM_001164462:exon2:c.C10032T:p.S3344S,NA,NA,NA,NA,NA,NA
chr7,100683008,100683008,G,A,P293977_S,MUC17,Missense_Mutation,NM_001040105,exon3,c.G8311A,p.V2771I,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.G8311A:p.V2771I,T,.,N,T,N,T
chr7,142563888,142563888,C,T,P293977_S,EPHB6,Missense_Mutation,NM_001280795,exon5,c.C400T,p.R134C,SNP,SNVindel,exonic,EPHB6,NA,nonsynonymous SNV,"EPHB6:NM_001280795:exon5:c.C400T:p.R134C,EPHB6:NM_001280794:exon8:c.C400T:p.R134C,EPHB6:NM_004445:exon9:c.C1276T:p.R426C",.,N,D,.,.,D
chr7,151927089,151927089,A,G,P293977_S,KMT2C,Silent,NM_170606,exon18,c.T2895C,p.S965S,SNP,SNVindel,exonic,KMT2C,NA,synonymous SNV,KMT2C:NM_170606:exon18:c.T2895C:p.S965S,NA,NA,NA,NA,NA,NA
chr9,286580,286580,C,T,P293977_S,DOCK8,Silent,NM_001190458,exon2,c.C72T,p.D24D,SNP,SNVindel,exonic,DOCK8,NA,synonymous SNV,"DOCK8:NM_001190458:exon2:c.C72T:p.D24D,DOCK8:NM_001193536:exon2:c.C72T:p.D24D,DOCK8:NM_203447:exon3:c.C276T:p.D92D",NA,NA,NA,NA,NA,NA
chr9,33541216,33541216,G,C,P293977_S,ANKRD18B,Missense_Mutation,NM_001353432,exon7,c.G880C,p.G294R,SNP,SNVindel,exonic,ANKRD18B,NA,nonsynonymous SNV,ANKRD18B:NM_001353432:exon7:c.G880C:p.G294R,T,.,.,T,N,T
chr10,79781437,79781437,C,T,P293977_S,POLR3A,Missense_Mutation,NM_007055,exon8,c.G1052A,p.R351Q,SNP,SNVindel,exonic,POLR3A,NA,nonsynonymous SNV,POLR3A:NM_007055:exon8:c.G1052A:p.R351Q,D,D,D,T,D,D
chr10,99126309,99126309,C,T,P293977_S,RRP12,Silent,NM_001284337,exon25,c.G2985A,p.K995K,SNP,SNVindel,exonic,RRP12,NA,synonymous SNV,"RRP12:NM_001284337:exon25:c.G2985A:p.K995K,RRP12:NM_001145114:exon26:c.G3102A:p.K1034K,RRP12:NM_015179:exon28:c.G3285A:p.K1095K",NA,NA,NA,NA,NA,NA
chr11,44077858,44077858,C,A,P293977_S,ACCSL,Missense_Mutation,NM_001031854,exon11,c.C1309A,p.Q437K,SNP,SNVindel,exonic,ACCSL,NA,nonsynonymous SNV,"ACCSL:NM_001031854:exon11:c.C1309A:p.Q437K,ACCSL:NM_001363113:exon11:c.C766A:p.Q256K",T,N,N,D,N,T
chr11,56058391,56058391,G,A,P293977_S,OR8H1,Missense_Mutation,NM_001005199,exon1,c.C148T,p.R50C,SNP,SNVindel,exonic,OR8H1,NA,nonsynonymous SNV,OR8H1:NM_001005199:exon1:c.C148T:p.R50C,T,N,N,T,D,T
chr11,61723277,61723277,G,A,P293977_S,BEST1,Missense_Mutation,NM_001363591,exon2,c.G17A,p.G6D,SNP,SNVindel,exonic,BEST1,NA,nonsynonymous SNV,"BEST1:NM_001363591:exon2:c.G17A:p.G6D,BEST1:NM_001139443:exon3:c.G155A:p.G52D,BEST1:NM_001300786:exon3:c.G155A:p.G52D,BEST1:NM_001300787:exon3:c.G155A:p.G52D,BEST1:NM_001363592:exon4:c.G335A:p.G112D,BEST1:NM_004183:exon4:c.G335A:p.G112D",D,N,D,D,D,D
chr11,77824999,77824999,C,G,P293977_S,ALG8,Missense_Mutation,NM_001007027,exon7,c.G710C,p.R237P,SNP,SNVindel,exonic,ALG8,NA,nonsynonymous SNV,"ALG8:NM_001007027:exon7:c.G710C:p.R237P,ALG8:NM_024079:exon7:c.G710C:p.R237P",D,D,D,D,D,D
chr11,117302297,117302297,G,A,P293977_S,DSCAML1,Missense_Mutation,NM_020693,exon31,c.C5327T,p.T1776M,SNP,SNVindel,exonic,DSCAML1,NA,nonsynonymous SNV,DSCAML1:NM_020693:exon31:c.C5327T:p.T1776M,T,.,D,T,N,T
chr11,123886711,123886711,G,A,P293977_S,OR10G4,Missense_Mutation,NM_001004462,exon1,c.G430A,p.A144T,SNP,SNVindel,exonic,OR10G4,NA,nonsynonymous SNV,OR10G4:NM_001004462:exon1:c.G430A:p.A144T,T,N,N,T,N,T
chr12,31850875,31850875,A,C,P293977_S,AMN1,Silent,NM_001113402,exon4,c.T333G,p.A111A,SNP,SNVindel,exonic,AMN1,NA,synonymous SNV,"AMN1:NM_001113402:exon4:c.T333G:p.A111A,AMN1:NM_001278411:exon4:c.T279G:p.A93A,AMN1:NM_001278412:exon6:c.T279G:p.A93A",NA,NA,NA,NA,NA,NA
chr12,46285589,46285589,T,C,P293977_S,ARID2,Missense_Mutation,NM_001347839,exon17,c.T4949C,p.F1650S,SNP,SNVindel,exonic,ARID2,NA,nonsynonymous SNV,"ARID2:NM_001347839:exon17:c.T4949C:p.F1650S,ARID2:NM_152641:exon17:c.T4949C:p.F1650S",D,D,D,T,D,T
chr12,50453701,50453701,C,G,P293977_S,ASIC1,Missense_Mutation,NM_001095,exon3,c.C522G,p.F174L,SNP,SNVindel,exonic,ASIC1,NA,nonsynonymous SNV,"ASIC1:NM_001095:exon3:c.C522G:p.F174L,ASIC1:NM_020039:exon3:c.C522G:p.F174L",D,D,D,T,D,T
chr12,53421578,53421578,G,A,P293977_S,EIF4B,Missense_Mutation,NM_001330654,exon6,c.G563A,p.R188H,SNP,SNVindel,exonic,EIF4B,NA,nonsynonymous SNV,"EIF4B:NM_001330654:exon6:c.G563A:p.R188H,EIF4B:NM_001300821:exon7:c.G680A:p.R227H,EIF4B:NM_001417:exon7:c.G680A:p.R227H",T,D,D,T,N,T
chr12,108686207,108686207,C,T,P293977_S,CMKLR1,Missense_Mutation,NM_001142344,exon3,c.G533A,p.R178Q,SNP,SNVindel,exonic,CMKLR1,NA,nonsynonymous SNV,"CMKLR1:NM_001142344:exon3:c.G533A:p.R178Q,CMKLR1:NM_001142345:exon3:c.G533A:p.R178Q,CMKLR1:NM_004072:exon3:c.G527A:p.R176Q,CMKLR1:NM_001142343:exon4:c.G533A:p.R178Q",T,D,D,T,D,T
chr12,133810751,133810751,C,T,P293977_S,ANHX,Silent,NM_001191054,exon2,c.G192A,p.A64A,SNP,SNVindel,exonic,ANHX,NA,synonymous SNV,ANHX:NM_001191054:exon2:c.G192A:p.A64A,NA,NA,NA,NA,NA,NA
chr14,57741010,57741010,T,C,P293977_S,AP5M1,Silent,NM_018229,exon2,c.T123C,p.S41S,SNP,SNVindel,exonic,AP5M1,NA,synonymous SNV,AP5M1:NM_018229:exon2:c.T123C:p.S41S,NA,NA,NA,NA,NA,NA
chr14,75248578,75248578,C,T,P293977_S,YLPM1,Missense_Mutation,NM_019589,exon4,c.C1832T,p.S611F,SNP,SNVindel,exonic,YLPM1,NA,nonsynonymous SNV,YLPM1:NM_019589:exon4:c.C1832T:p.S611F,D,.,D,.,N,T
chr14,94914959,94914959,T,C,P293977_S,SERPINA11,Silent,NM_001080451,exon2,c.A153G,p.T51T,SNP,SNVindel,exonic,SERPINA11,NA,synonymous SNV,SERPINA11:NM_001080451:exon2:c.A153G:p.T51T,NA,NA,NA,NA,NA,NA
chr15,41192827,41192827,G,A,P293977_S,VPS18,Missense_Mutation,NM_020857,exon4,c.G1811A,p.R604H,SNP,SNVindel,exonic,VPS18,NA,nonsynonymous SNV,VPS18:NM_020857:exon4:c.G1811A:p.R604H,T,D,D,T,N,T
chr15,99511844,99511844,G,A,P293977_S,PGPEP1L,Missense_Mutation,NM_001102612,exon5,c.C454T,p.R152C,SNP,SNVindel,exonic,PGPEP1L,NA,nonsynonymous SNV,"PGPEP1L:NM_001102612:exon5:c.C454T:p.R152C,PGPEP1L:NM_001167902:exon5:c.C292T:p.R98C",D,N,N,T,D,T
chr16,2134546,2134546,C,T,P293977_S,TSC2,Silent,NM_001318831,exon30,c.C3591T,p.P1197P,SNP,SNVindel,exonic,TSC2,NA,synonymous SNV,"TSC2:NM_001318831:exon30:c.C3591T:p.P1197P,TSC2:NM_001318827:exon31:c.C4014T:p.P1338P,TSC2:NM_001318829:exon31:c.C3978T:p.P1326P,TSC2:NM_001077183:exon32:c.C4122T:p.P1374P,TSC2:NM_001318832:exon32:c.C4155T:p.P1385P,TSC2:NM_001363528:exon32:c.C4125T:p.P1375P,TSC2:NM_001114382:exon33:c.C4254T:p.P1418P,TSC2:NM_001370404:exon33:c.C4191T:p.P1397P,TSC2:NM_001370405:exon33:c.C4194T:p.P1398P,TSC2:NM_021055:exon33:c.C4194T:p.P1398P,TSC2:NM_000548:exon34:c.C4323T:p.P1441P",NA,NA,NA,NA,NA,NA
chr16,3778738,3778738,G,A,P293977_S,CREBBP,Missense_Mutation,NM_001079846,exon30,c.C6196T,p.R2066C,SNP,SNVindel,exonic,CREBBP,NA,nonsynonymous SNV,"CREBBP:NM_001079846:exon30:c.C6196T:p.R2066C,CREBBP:NM_004380:exon31:c.C6310T:p.R2104C",D,D,D,D,D,D
chr16,4043461,4043461,G,A,P293977_S,ADCY9,Silent,NM_001116,exon4,c.C1935T,p.A645A,SNP,SNVindel,exonic,ADCY9,NA,synonymous SNV,ADCY9:NM_001116:exon4:c.C1935T:p.A645A,NA,NA,NA,NA,NA,NA
chr16,4727567,4727567,G,A,P293977_S,MGRN1,Silent,NM_001142289,exon11,c.G1059A,p.E353E,SNP,SNVindel,exonic,MGRN1,NA,synonymous SNV,"MGRN1:NM_001142289:exon11:c.G1059A:p.E353E,MGRN1:NM_001142290:exon11:c.G1059A:p.E353E,MGRN1:NM_001142291:exon11:c.G1059A:p.E353E,MGRN1:NM_015246:exon11:c.G1059A:p.E353E",NA,NA,NA,NA,NA,NA
chr16,29913210,29913210,G,A,P293977_S,ASPHD1,Silent,NM_181718,exon1,c.G918A,p.G306G,SNP,SNVindel,exonic,ASPHD1,NA,synonymous SNV,ASPHD1:NM_181718:exon1:c.G918A:p.G306G,NA,NA,NA,NA,NA,NA
chr16,88598487,88598487,T,G,P293977_S,ZFPM1,Missense_Mutation,NM_153813,exon7,c.T790G,p.C264G,SNP,SNVindel,exonic,ZFPM1,NA,nonsynonymous SNV,ZFPM1:NM_153813:exon7:c.T790G:p.C264G,D,U,D,T,D,T
chr17,7577538,7577538,C,T,P293977_S,TP53,Missense_Mutation,NM_001126115,exon3,c.G347A,p.R116Q,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon3:c.G347A:p.R116Q,TP53:NM_001126116:exon3:c.G347A:p.R116Q,TP53:NM_001126117:exon3:c.G347A:p.R116Q,TP53:NM_001276697:exon3:c.G266A:p.R89Q,TP53:NM_001276698:exon3:c.G266A:p.R89Q,TP53:NM_001276699:exon3:c.G266A:p.R89Q,TP53:NM_001126118:exon6:c.G626A:p.R209Q,TP53:NM_000546:exon7:c.G743A:p.R248Q,TP53:NM_001126112:exon7:c.G743A:p.R248Q,TP53:NM_001126113:exon7:c.G743A:p.R248Q,TP53:NM_001126114:exon7:c.G743A:p.R248Q,TP53:NM_001276695:exon7:c.G626A:p.R209Q,TP53:NM_001276696:exon7:c.G626A:p.R209Q,TP53:NM_001276760:exon7:c.G626A:p.R209Q,TP53:NM_001276761:exon7:c.G626A:p.R209Q",D,D,A,D,D,D
chr17,17057705,17057705,C,T,P293977_S,MPRIP,Missense_Mutation,NM_001364716,exon13,c.C1901T,p.P634L,SNP,SNVindel,exonic,MPRIP,NA,nonsynonymous SNV,"MPRIP:NM_001364716:exon13:c.C1901T:p.P634L,MPRIP:NM_015134:exon13:c.C1451T:p.P484L,MPRIP:NM_201274:exon13:c.C1451T:p.P484L",T,.,D,D,D,D
chr17,29161847,29161847,G,A,P293977_S,ATAD5,Missense_Mutation,NM_024857,exon2,c.G748A,p.D250N,SNP,SNVindel,exonic,ATAD5,NA,nonsynonymous SNV,ATAD5:NM_024857:exon2:c.G748A:p.D250N,T,N,N,T,N,T
chr17,80195601,80195601,G,T,P293977_S,SLC16A3,Missense_Mutation,NM_001042422,exon4,c.G955T,p.G319C,SNP,SNVindel,exonic,SLC16A3,NA,nonsynonymous SNV,"SLC16A3:NM_001042422:exon4:c.G955T:p.G319C,SLC16A3:NM_001042423:exon4:c.G955T:p.G319C,SLC16A3:NM_001206950:exon4:c.G955T:p.G319C,SLC16A3:NM_001206951:exon4:c.G955T:p.G319C,SLC16A3:NM_001206952:exon4:c.G955T:p.G319C,SLC16A3:NM_004207:exon4:c.G955T:p.G319C",T,D,D,T,N,T
chr18,47431168,47431168,C,T,P293977_S,MYO5B,Silent,NM_001080467,exon20,c.G2445A,p.A815A,SNP,SNVindel,exonic,MYO5B,NA,synonymous SNV,MYO5B:NM_001080467:exon20:c.G2445A:p.A815A,NA,NA,NA,NA,NA,NA
chr19,1979371,1979371,G,A,P293977_S,CSNK1G2,Silent,NM_001319,exon8,c.G822A,p.T274T,SNP,SNVindel,exonic,CSNK1G2,NA,synonymous SNV,CSNK1G2:NM_001319:exon8:c.G822A:p.T274T,NA,NA,NA,NA,NA,NA
chr19,8610551,8610551,G,A,P293977_S,MYO1F,Missense_Mutation,NM_001348355,exon13,c.C1327T,p.L443F,SNP,SNVindel,exonic,MYO1F,NA,nonsynonymous SNV,"MYO1F:NM_001348355:exon13:c.C1327T:p.L443F,MYO1F:NM_012335:exon13:c.C1339T:p.L447F",D,D,D,D,D,D
chr19,16060233,16060233,C,T,P293977_S,OR10H4,Missense_Mutation,NM_001004465,exon1,c.C416T,p.P139L,SNP,SNVindel,exonic,OR10H4,NA,nonsynonymous SNV,OR10H4:NM_001004465:exon1:c.C416T:p.P139L,T,N,N,T,D,T
chr19,19767852,19767852,C,T,P293977_S,ATP13A1,Missense_Mutation,NM_020410,exon5,c.G857A,p.R286Q,SNP,SNVindel,exonic,ATP13A1,NA,nonsynonymous SNV,ATP13A1:NM_020410:exon5:c.G857A:p.R286Q,D,D,D,D,D,D
chr19,37880351,37880351,A,G,P293977_S,ZNF527,Missense_Mutation,NM_032453,exon5,c.A1400G,p.E467G,SNP,SNVindel,exonic,ZNF527,NA,nonsynonymous SNV,ZNF527:NM_032453:exon5:c.A1400G:p.E467G,.,N,D,T,.,T
chr19,54314297,54314297,G,A,P293977_S,NLRP12,Missense_Mutation,NM_001277126,exon3,c.C616T,p.R206C,SNP,SNVindel,exonic,NLRP12,NA,nonsynonymous SNV,"NLRP12:NM_001277126:exon3:c.C616T:p.R206C,NLRP12:NM_001277129:exon3:c.C616T:p.R206C,NLRP12:NM_144687:exon3:c.C616T:p.R206C",T,N,N,T,N,T
chr19,58880578,58880578,C,T,P293977_S,ZNF837,Missense_Mutation,NM_138466,exon3,c.G122A,p.G41E,SNP,SNVindel,exonic,ZNF837,NA,nonsynonymous SNV,ZNF837:NM_138466:exon3:c.G122A:p.G41E,D,.,N,T,N,T
chr22,23915574,23915574,G,A,P293977_S,IGLL1,Missense_Mutation,NM_001369906,exon3,c.C524T,p.A175V,SNP,SNVindel,exonic,IGLL1,NA,nonsynonymous SNV,"IGLL1:NM_001369906:exon3:c.C524T:p.A175V,IGLL1:NM_020070:exon3:c.C521T:p.A174V",T,N,N,T,N,T
chrX,67937363,67937363,C,T,P293977_S,STARD8,Missense_Mutation,NM_001142504,exon5,c.C367T,p.R123C,SNP,SNVindel,exonic,STARD8,NA,nonsynonymous SNV,"STARD8:NM_001142504:exon5:c.C367T:p.R123C,STARD8:NM_014725:exon5:c.C367T:p.R123C,STARD8:NM_001142503:exon6:c.C607T:p.R203C",D,.,N,T,D,T
chrX,84510275,84510275,G,T,P293977_S,ZNF711,Missense_Mutation,NM_021998,exon4,c.G90T,p.M30I,SNP,SNVindel,exonic,ZNF711,NA,nonsynonymous SNV,"ZNF711:NM_021998:exon4:c.G90T:p.M30I,ZNF711:NM_001330574:exon5:c.G90T:p.M30I",T,D,D,T,N,T
chrX,105449582,105449582,A,C,P293977_S,PWWP3B,Missense_Mutation,NM_001171020,exon4,c.A157C,p.T53P,SNP,SNVindel,exonic,PWWP3B,NA,nonsynonymous SNV,"PWWP3B:NM_001171020:exon4:c.A157C:p.T53P,PWWP3B:NM_152423:exon5:c.A157C:p.T53P",D,N,N,T,D,T
chrX,129801647,129801647,C,T,P293977_S,ENOX2,Missense_Mutation,NM_001281736,exon7,c.G764A,p.R255H,SNP,SNVindel,exonic,ENOX2,NA,nonsynonymous SNV,"ENOX2:NM_001281736:exon7:c.G764A:p.R255H,ENOX2:NM_006375:exon8:c.G764A:p.R255H,ENOX2:NM_182314:exon9:c.G851A:p.R284H",D,D,D,.,D,T
chrX,135593016,135593016,C,G,P293977_S,HTATSF1,Missense_Mutation,NM_014500,exon9,c.C1112G,p.A371G,SNP,SNVindel,exonic,HTATSF1,NA,nonsynonymous SNV,"HTATSF1:NM_014500:exon9:c.C1112G:p.A371G,HTATSF1:NM_001163280:exon10:c.C1112G:p.A371G",D,N,N,T,N,T
chrX,153599556,153599556,C,T,P293977_S,FLNA,Missense_Mutation,NM_001110556,exon2,c.G58A,p.G20S,SNP,SNVindel,exonic,FLNA,NA,nonsynonymous SNV,"FLNA:NM_001110556:exon2:c.G58A:p.G20S,FLNA:NM_001456:exon2:c.G58A:p.G20S",T,N,N,D,N,T
chr1,19473349,19473349,G,A,P294163_F,UBR4,Missense_Mutation,NM_020765,exon52,c.C7775T,p.T2592M,SNP,SNVindel,exonic,UBR4,NA,nonsynonymous SNV,UBR4:NM_020765:exon52:c.C7775T:p.T2592M,D,D,D,T,N,T
chr1,22168547,22168547,G,A,P294163_F,HSPG2,Silent,NM_001291860,exon69,c.C9144T,p.D3048D,SNP,SNVindel,exonic,HSPG2,NA,synonymous SNV,"HSPG2:NM_001291860:exon69:c.C9144T:p.D3048D,HSPG2:NM_005529:exon69:c.C9141T:p.D3047D",NA,NA,NA,NA,NA,NA
chr1,144815953,144815953,A,G,P294163_F,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,150414409,150414409,G,A,P294163_F,RPRD2,Silent,NM_015203,exon4,c.G489A,p.P163P,SNP,SNVindel,exonic,RPRD2,NA,synonymous SNV,RPRD2:NM_015203:exon4:c.G489A:p.P163P,NA,NA,NA,NA,NA,NA
chr1,150599972,150599972,C,T,P294163_F,ENSA,Missense_Mutation,NM_004436,exon2,c.G154A,p.D52N,SNP,SNVindel,exonic,ENSA,NA,nonsynonymous SNV,"ENSA:NM_004436:exon2:c.G154A:p.D52N,ENSA:NM_207042:exon2:c.G154A:p.D52N,ENSA:NM_207043:exon2:c.G154A:p.D52N,ENSA:NM_207044:exon2:c.G154A:p.D52N,ENSA:NM_207045:exon2:c.G142A:p.D48N,ENSA:NM_207046:exon2:c.G142A:p.D48N,ENSA:NM_207047:exon2:c.G142A:p.D48N,ENSA:NM_207168:exon2:c.G154A:p.D52N",T,D,D,T,D,T
chr1,155981608,155981608,G,A,P294163_F,SSR2,Missense_Mutation,NM_003145,exon5,c.C434T,p.P145L,SNP,SNVindel,exonic,SSR2,NA,nonsynonymous SNV,SSR2:NM_003145:exon5:c.C434T:p.P145L,D,D,D,.,D,T
chr1,155981609,155981609,G,A,P294163_F,SSR2,Missense_Mutation,NM_003145,exon5,c.C433T,p.P145S,SNP,SNVindel,exonic,SSR2,NA,nonsynonymous SNV,SSR2:NM_003145:exon5:c.C433T:p.P145S,T,D,D,.,D,T
chr1,160325748,160325748,G,A,P294163_F,NCSTN,Silent,NM_001290186,exon10,c.G1137A,p.T379T,SNP,SNVindel,exonic,NCSTN,NA,synonymous SNV,"NCSTN:NM_001290186:exon10:c.G1137A:p.T379T,NCSTN:NM_001349729:exon13:c.G1551A:p.T517T,NCSTN:NM_015331:exon13:c.G1551A:p.T517T,NCSTN:NM_001290184:exon14:c.G1491A:p.T497T",NA,NA,NA,NA,NA,NA
chr1,182617421,182617421,G,A,P294163_F,RGS8,Missense_Mutation,NM_001369564,exon5,c.C211T,p.R71C,SNP,SNVindel,exonic,RGS8,NA,nonsynonymous SNV,"RGS8:NM_001369564:exon5:c.C211T:p.R71C,RGS8:NM_033345:exon5:c.C265T:p.R89C,RGS8:NM_001102450:exon6:c.C211T:p.R71C",D,D,D,T,D,T
chr2,96601238,96601238,C,T,P294163_F,ANKRD36C,Missense_Mutation,NM_001310154,exon24,c.G1699A,p.A567T,SNP,SNVindel,exonic,ANKRD36C,NA,nonsynonymous SNV,ANKRD36C:NM_001310154:exon24:c.G1699A:p.A567T,T,.,N,T,N,T
chr2,169826571,169826571,T,C,P294163_F,ABCB11,Missense_Mutation,NM_003742,exon15,c.A1793G,p.Q598R,SNP,SNVindel,exonic,ABCB11,NA,nonsynonymous SNV,ABCB11:NM_003742:exon15:c.A1793G:p.Q598R,D,D,D,D,D,D
chr2,233899066,233899066,G,A,P294163_F,NEU2,Missense_Mutation,NM_005383,exon2,c.G442A,p.G148S,SNP,SNVindel,exonic,NEU2,NA,nonsynonymous SNV,NEU2:NM_005383:exon2:c.G442A:p.G148S,T,N,D,T,D,T
chr3,37053589,37053589,C,T,P294163_F,MLH1,Nonsense_Mutation,NM_001354629,exon7,c.C577T,p.R193X,SNP,SNVindel,exonic,MLH1,NA,stopgain,"MLH1:NM_001354629:exon7:c.C577T:p.R193X,MLH1:NM_000249:exon8:c.C676T:p.R226X,MLH1:NM_001167617:exon8:c.C382T:p.R128X,MLH1:NM_001258271:exon8:c.C676T:p.R226X,MLH1:NM_001354620:exon8:c.C382T:p.R128X,MLH1:NM_001354628:exon8:c.C676T:p.R226X,MLH1:NM_001354630:exon8:c.C676T:p.R226X",.,D,A,.,.,.
chr3,38050077,38050077,G,A,P294163_F,PLCD1,Missense_Mutation,NM_001130964,exon12,c.C1837T,p.R613C,SNP,SNVindel,exonic,PLCD1,NA,nonsynonymous SNV,"PLCD1:NM_001130964:exon12:c.C1837T:p.R613C,PLCD1:NM_006225:exon12:c.C1774T:p.R592C",D,N,D,T,D,T
chr3,49200971,49200971,C,T,P294163_F,CCDC71,Missense_Mutation,NM_022903,exon2,c.G671A,p.R224Q,SNP,SNVindel,exonic,CCDC71,NA,nonsynonymous SNV,CCDC71:NM_022903:exon2:c.G671A:p.R224Q,T,N,N,T,N,T
chr3,101476482,101476482,C,T,P294163_F,CEP97,Silent,NM_024548,exon9,c.C1032T,p.P344P,SNP,SNVindel,exonic,CEP97,NA,synonymous SNV,CEP97:NM_024548:exon9:c.C1032T:p.P344P,NA,NA,NA,NA,NA,NA
chr3,115805311,115805311,C,T,P294163_F,LSAMP,Missense_Mutation,NM_001318915,exon2,c.G248A,p.R83Q,SNP,SNVindel,exonic,LSAMP,NA,nonsynonymous SNV,"LSAMP:NM_001318915:exon2:c.G248A:p.R83Q,LSAMP:NM_002338:exon2:c.G248A:p.R83Q",T,D,D,T,N,D
chr3,170720395,170720395,G,A,P294163_F,SLC2A2,Silent,NM_001278658,exon7,c.C681T,p.G227G,SNP,SNVindel,exonic,SLC2A2,NA,synonymous SNV,"SLC2A2:NM_001278658:exon7:c.C681T:p.G227G,SLC2A2:NM_001278659:exon7:c.C519T:p.G173G,SLC2A2:NM_000340:exon8:c.C1038T:p.G346G",NA,NA,NA,NA,NA,NA
chr3,172536449,172536449,C,T,P294163_F,ECT2,Missense_Mutation,NM_001349095,exon25,c.C2767T,p.R923C,SNP,SNVindel,exonic,ECT2,NA,nonsynonymous SNV,"ECT2:NM_001349095:exon25:c.C2767T:p.R923C,ECT2:NM_001349096:exon25:c.C2767T:p.R923C,ECT2:NM_001349101:exon25:c.C2674T:p.R892C,ECT2:NM_001349094:exon26:c.C2767T:p.R923C,ECT2:NM_001349097:exon26:c.C2764T:p.R922C",NA,NA,NA,NA,NA,NA
chr4,47163470,47163470,G,A,P294163_F,GABRB1,Missense_Mutation,NM_000812,exon4,c.G445A,p.V149I,SNP,SNVindel,exonic,GABRB1,NA,nonsynonymous SNV,GABRB1:NM_000812:exon4:c.G445A:p.V149I,T,D,D,D,N,T
chr4,74124048,74124048,C,T,P294163_F,ANKRD17,Missense_Mutation,NM_015574,exon1,c.G338A,p.S113N,SNP,SNVindel,exonic,ANKRD17,NA,nonsynonymous SNV,"ANKRD17:NM_015574:exon1:c.G338A:p.S113N,ANKRD17:NM_032217:exon1:c.G338A:p.S113N,ANKRD17:NM_198889:exon1:c.G338A:p.S113N",D,U,N,D,N,T
chr5,1076828,1076828,C,T,P294163_F,SLC12A7,Missense_Mutation,NM_006598,exon13,c.G1729A,p.V577M,SNP,SNVindel,exonic,SLC12A7,NA,nonsynonymous SNV,SLC12A7:NM_006598:exon13:c.G1729A:p.V577M,D,D,D,D,N,D
chr5,10683647,10683647,G,A,P294163_F,DAP,Silent,NM_004394,exon3,c.C189T,p.I63I,SNP,SNVindel,exonic,DAP,NA,synonymous SNV,DAP:NM_004394:exon3:c.C189T:p.I63I,NA,NA,NA,NA,NA,NA
chr5,35013071,35013071,A,T,P294163_F,AGXT2,Silent,NM_031900,exon11,c.T1176A,p.S392S,SNP,SNVindel,exonic,AGXT2,NA,synonymous SNV,AGXT2:NM_031900:exon11:c.T1176A:p.S392S,NA,NA,NA,NA,NA,NA
chr5,140207965,140207965,G,C,P294163_F,PCDHA6,Missense_Mutation,NM_018909,exon1,c.G289C,p.G97R,SNP,SNVindel,exonic,PCDHA6,NA,nonsynonymous SNV,"PCDHA6:NM_018909:exon1:c.G289C:p.G97R,PCDHA6:NM_031848:exon1:c.G289C:p.G97R,PCDHA6:NM_031849:exon1:c.G289C:p.G97R",T,U,D,T,D,T
chr5,149001358,149001358,C,T,P294163_F,ARHGEF37,Silent,NM_001001669,exon9,c.C1068T,p.G356G,SNP,SNVindel,exonic,ARHGEF37,NA,synonymous SNV,ARHGEF37:NM_001001669:exon9:c.C1068T:p.G356G,NA,NA,NA,NA,NA,NA
chr6,54002200,54002200,G,A,P294163_F,MLIP,Missense_Mutation,NM_001281746,exon4,c.G1300A,p.A434T,SNP,SNVindel,exonic,MLIP,NA,nonsynonymous SNV,"MLIP:NM_001281746:exon4:c.G1300A:p.A434T,MLIP:NM_001281747:exon4:c.G1333A:p.A445T",T,.,D,T,N,T
chr6,76405560,76405560,C,T,P294163_F,SENP6,Nonsense_Mutation,NM_001100409,exon16,c.C2095T,p.R699X,SNP,SNVindel,exonic,SENP6,NA,stopgain,"SENP6:NM_001100409:exon16:c.C2095T:p.R699X,SENP6:NM_015571:exon17:c.C2116T:p.R706X",.,D,A,.,.,.
chr6,96997437,96997437,G,A,P294163_F,UFL1,Missense_Mutation,NM_015323,exon14,c.G1670A,p.G557E,SNP,SNVindel,exonic,UFL1,NA,nonsynonymous SNV,UFL1:NM_015323:exon14:c.G1670A:p.G557E,D,D,D,T,D,T
chr6,100841631,100841631,G,A,P294163_F,SIM1,Silent,NM_005068,exon10,c.C1302T,p.C434C,SNP,SNVindel,exonic,SIM1,NA,synonymous SNV,SIM1:NM_005068:exon10:c.C1302T:p.C434C,NA,NA,NA,NA,NA,NA
chr6,110763914,110763914,C,T,P294163_F,SLC22A16,Missense_Mutation,NM_033125,exon4,c.G716A,p.R239Q,SNP,SNVindel,exonic,SLC22A16,NA,nonsynonymous SNV,SLC22A16:NM_033125:exon4:c.G716A:p.R239Q,D,D,D,D,D,D
chr6,116288797,116288797,C,T,P294163_F,FRK,Missense_Mutation,NM_002031,exon4,c.G716A,p.R239Q,SNP,SNVindel,exonic,FRK,NA,nonsynonymous SNV,FRK:NM_002031:exon4:c.G716A:p.R239Q,.,N,D,.,.,T
chr6,132859907,132859907,C,T,P294163_F,TAAR9,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TAAR9,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr6,154360969,154360969,G,A,P294163_F,OPRM1,Missense_Mutation,NM_000914,exon1,c.G290A,p.R97K,SNP,SNVindel,exonic,OPRM1,NA,nonsynonymous SNV,"OPRM1:NM_000914:exon1:c.G290A:p.R97K,OPRM1:NM_001008503:exon1:c.G290A:p.R97K,OPRM1:NM_001008504:exon1:c.G290A:p.R97K,OPRM1:NM_001008505:exon1:c.G290A:p.R97K,OPRM1:NM_001145282:exon1:c.G290A:p.R97K,OPRM1:NM_001145283:exon1:c.G290A:p.R97K,OPRM1:NM_001145284:exon1:c.G290A:p.R97K,OPRM1:NM_001145285:exon1:c.G290A:p.R97K,OPRM1:NM_001145286:exon1:c.G290A:p.R97K,OPRM1:NM_001285522:exon1:c.G290A:p.S97N,OPRM1:NM_001285523:exon1:c.G290A:p.R97K,OPRM1:NM_001285524:exon2:c.G569A:p.R190K,OPRM1:NM_001145279:exon3:c.G569A:p.R190K",D,D,D,T,D,T
chr7,82476480,82476480,C,A,P294163_F,PCLO,Missense_Mutation,NM_014510,exon11,c.G13738T,p.G4580W,SNP,SNVindel,exonic,PCLO,NA,nonsynonymous SNV,"PCLO:NM_014510:exon11:c.G13738T:p.G4580W,PCLO:NM_033026:exon11:c.G13738T:p.G4580W",D,.,D,T,D,T
chr7,107302097,107302097,C,T,P294163_F,SLC26A4,Missense_Mutation,NM_000441,exon2,c.C11T,p.P4L,SNP,SNVindel,exonic,SLC26A4,NA,nonsynonymous SNV,SLC26A4:NM_000441:exon2:c.C11T:p.P4L,D,N,N,D,N,T
chr7,149556518,149556518,C,T,P294163_F,ZNF862,Silent,NM_001099220,exon6,c.C1125T,p.A375A,SNP,SNVindel,exonic,ZNF862,NA,synonymous SNV,ZNF862:NM_001099220:exon6:c.C1125T:p.A375A,NA,NA,NA,NA,NA,NA
chr8,1497384,1497384,C,T,P294163_F,DLGAP2,Silent,NM_001346810,exon5,c.C765T,p.N255N,SNP,SNVindel,exonic,DLGAP2,NA,synonymous SNV,DLGAP2:NM_001346810:exon5:c.C765T:p.N255N,NA,NA,NA,NA,NA,NA
chr8,146033777,146033777,C,T,P294163_F,ZNF517,Silent,NM_001317936,exon5,c.C1455T,p.S485S,SNP,SNVindel,exonic,ZNF517,NA,synonymous SNV,"ZNF517:NM_001317936:exon5:c.C1455T:p.S485S,ZNF517:NM_213605:exon5:c.C1476T:p.S492S",NA,NA,NA,NA,NA,NA
chr9,32634687,32634687,C,G,P294163_F,TAF1L,Silent,NM_153809,exon1,c.G891C,p.V297V,SNP,SNVindel,exonic,TAF1L,NA,synonymous SNV,TAF1L:NM_153809:exon1:c.G891C:p.V297V,NA,NA,NA,NA,NA,NA
chr9,34623531,34623531,G,A,P294163_F,ARID3C,Silent,NM_001017363,exon4,c.C756T,p.P252P,SNP,SNVindel,exonic,ARID3C,NA,synonymous SNV,ARID3C:NM_001017363:exon4:c.C756T:p.P252P,NA,NA,NA,NA,NA,NA
chr9,128064536,128064536,C,T,P294163_F,GAPVD1,Nonsense_Mutation,NM_001282681,exon3,c.C460T,p.R154X,SNP,SNVindel,exonic,GAPVD1,NA,stopgain,"GAPVD1:NM_001282681:exon3:c.C460T:p.R154X,GAPVD1:NM_001330778:exon3:c.C460T:p.R154X,GAPVD1:NM_001354294:exon3:c.C460T:p.R154X,GAPVD1:NM_001354298:exon3:c.C460T:p.R154X,GAPVD1:NM_015635:exon3:c.C460T:p.R154X,GAPVD1:NM_001330777:exon4:c.C460T:p.R154X,GAPVD1:NM_001354295:exon4:c.C460T:p.R154X,GAPVD1:NM_001354300:exon4:c.C460T:p.R154X,GAPVD1:NM_001282679:exon5:c.C460T:p.R154X,GAPVD1:NM_001282680:exon5:c.C460T:p.R154X,GAPVD1:NM_001354293:exon5:c.C460T:p.R154X,GAPVD1:NM_001354296:exon5:c.C460T:p.R154X,GAPVD1:NM_001354297:exon5:c.C460T:p.R154X,GAPVD1:NM_001354301:exon5:c.C460T:p.R154X,GAPVD1:NM_001354299:exon6:c.C460T:p.R154X",.,D,A,.,.,.
chr9,131022887,131022887,C,T,P294163_F,GOLGA2,Missense_Mutation,NM_001366246,exon17,c.G1498A,p.E500K,SNP,SNVindel,exonic,GOLGA2,NA,nonsynonymous SNV,"GOLGA2:NM_001366246:exon17:c.G1498A:p.E500K,GOLGA2:NM_004486:exon17:c.G1498A:p.E500K,GOLGA2:NM_001366244:exon18:c.G1579A:p.E527K",D,D,N,T,N,T
chr10,43694620,43694620,G,A,P294163_F,RASGEF1A,Missense_Mutation,NM_001282862,exon8,c.C896T,p.T299I,SNP,SNVindel,exonic,RASGEF1A,NA,nonsynonymous SNV,"RASGEF1A:NM_001282862:exon8:c.C896T:p.T299I,RASGEF1A:NM_145313:exon8:c.C872T:p.T291I",T,D,D,T,N,T
chr10,133754119,133754119,G,A,P294163_F,PPP2R2D,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PPP2R2D,NA,unknown,UNKNOWN,.,D,D,.,.,T
chr11,100211267,100211267,G,A,P294163_F,CNTN5,Missense_Mutation,NM_175566,exon19,c.G2581A,p.V861I,SNP,SNVindel,exonic,CNTN5,NA,nonsynonymous SNV,"CNTN5:NM_175566:exon19:c.G2581A:p.V861I,CNTN5:NM_001243270:exon21:c.G2803A:p.V935I,CNTN5:NM_014361:exon22:c.G2803A:p.V935I",T,N,N,T,N,T
chr11,123900554,123900554,G,A,P294163_F,OR10G8,Silent,NM_001004464,exon1,c.G225A,p.T75T,SNP,SNVindel,exonic,OR10G8,NA,synonymous SNV,OR10G8:NM_001004464:exon1:c.G225A:p.T75T,NA,NA,NA,NA,NA,NA
chr12,2017072,2017072,G,A,P294163_F,CACNA2D4,Silent,NM_172364,exon5,c.C618T,p.S206S,SNP,SNVindel,exonic,CACNA2D4,NA,synonymous SNV,CACNA2D4:NM_172364:exon5:c.C618T:p.S206S,NA,NA,NA,NA,NA,NA
chr12,6709411,6709411,G,A,P294163_F,CHD4,Missense_Mutation,NM_001297553,exon8,c.C1193T,p.P398L,SNP,SNVindel,exonic,CHD4,NA,nonsynonymous SNV,"CHD4:NM_001297553:exon8:c.C1193T:p.P398L,CHD4:NM_001273:exon9:c.C1214T:p.P405L,CHD4:NM_001363606:exon9:c.C1175T:p.P392L",D,D,D,D,D,D
chr12,53876620,53876620,C,T,P294163_F,MAP3K12,Missense_Mutation,NM_001193511,exon11,c.G1967A,p.R656Q,SNP,SNVindel,exonic,MAP3K12,NA,nonsynonymous SNV,"MAP3K12:NM_001193511:exon11:c.G1967A:p.R656Q,MAP3K12:NM_006301:exon12:c.G1868A:p.R623Q",T,N,D,T,N,T
chr12,97052040,97052040,G,A,P294163_F,CFAP54,Silent,NM_001306084,exon38,c.G5376A,p.Q1792Q,SNP,SNVindel,exonic,CFAP54,NA,synonymous SNV,"CFAP54:NM_001306084:exon38:c.G5376A:p.Q1792Q,CFAP54:NM_001367885:exon38:c.G5376A:p.Q1792Q",NA,NA,NA,NA,NA,NA
chr13,20716695,20716695,C,T,P294163_F,GJA3,Missense_Mutation,NM_021954,exon2,c.G733A,p.A245T,SNP,SNVindel,exonic,GJA3,NA,nonsynonymous SNV,GJA3:NM_021954:exon2:c.G733A:p.A245T,T,N,N,D,N,D
chr13,76416046,76416046,C,T,P294163_F,LMO7,Missense_Mutation,NM_001366634,exon21,c.C2977T,p.R993C,SNP,SNVindel,exonic,LMO7,NA,nonsynonymous SNV,"LMO7:NM_001366634:exon21:c.C2977T:p.R993C,LMO7:NM_001366636:exon21:c.C2977T:p.R993C,LMO7:NM_015842:exon21:c.C3259T:p.R1087C,LMO7:NM_001330583:exon22:c.C3259T:p.R1087C,LMO7:NM_001366632:exon22:c.C3259T:p.R1087C,LMO7:NM_001366633:exon22:c.C3832T:p.R1278C,LMO7:NM_005358:exon23:c.C3112T:p.R1038C,LMO7:NM_001306080:exon24:c.C3958T:p.R1320C",D,N,N,T,D,T
chr14,23524283,23524283,C,T,P294163_F,CDH24,Missense_Mutation,NM_022478,exon3,c.G481A,p.E161K,SNP,SNVindel,exonic,CDH24,NA,nonsynonymous SNV,"CDH24:NM_022478:exon3:c.G481A:p.E161K,CDH24:NM_144985:exon3:c.G481A:p.E161K",D,D,D,T,D,D
chr15,29092257,29092257,C,T,P294163_F,GOLGA6L7,Missense_Mutation,NM_001365371,exon2,c.G133A,p.A45T,SNP,SNVindel,exonic,GOLGA6L7,NA,nonsynonymous SNV,GOLGA6L7:NM_001365371:exon2:c.G133A:p.A45T,NA,NA,NA,NA,NA,NA
chr15,30925752,30925752,G,A,P294163_F,ARHGAP11B,Missense_Mutation,NM_001039841,exon3,c.G260A,p.R87Q,SNP,SNVindel,exonic,ARHGAP11B,NA,nonsynonymous SNV,ARHGAP11B:NM_001039841:exon3:c.G260A:p.R87Q,D,U,D,T,D,T
chr15,74241887,74241887,G,A,P294163_F,LOXL1,Missense_Mutation,NM_005576,exon6,c.G1690A,p.V564I,SNP,SNVindel,exonic,LOXL1,NA,nonsynonymous SNV,LOXL1:NM_005576:exon6:c.G1690A:p.V564I,T,D,D,T,N,T
chr15,74476320,74476320,G,A,P294163_F,STRA6,Nonsense_Mutation,NM_001142617,exon14,c.C1177T,p.R393X,SNP,SNVindel,exonic,STRA6,NA,stopgain,"STRA6:NM_001142617:exon14:c.C1177T:p.R393X,STRA6:NM_001142618:exon14:c.C1177T:p.R393X,STRA6:NM_001142619:exon14:c.C1150T:p.R384X,STRA6:NM_001199040:exon14:c.C1288T:p.R430X,STRA6:NM_001199041:exon14:c.C1222T:p.R408X,STRA6:NM_001199042:exon14:c.C1294T:p.R432X,STRA6:NM_022369:exon14:c.C1177T:p.R393X",.,N,A,.,.,.
chr16,2130289,2130289,G,A,P294163_F,TSC2,Missense_Mutation,NM_001318831,exon26,c.G2789A,p.R930Q,SNP,SNVindel,exonic,TSC2,NA,nonsynonymous SNV,"TSC2:NM_001318831:exon26:c.G2789A:p.R930Q,TSC2:NM_001318827:exon28:c.G3281A:p.R1094Q,TSC2:NM_001318829:exon28:c.G3245A:p.R1082Q,TSC2:NM_001077183:exon29:c.G3389A:p.R1130Q,TSC2:NM_001318832:exon29:c.G3422A:p.R1141Q,TSC2:NM_001363528:exon29:c.G3392A:p.R1131Q,TSC2:NM_001370404:exon29:c.G3389A:p.R1130Q,TSC2:NM_001370405:exon29:c.G3392A:p.R1131Q,TSC2:NM_021055:exon29:c.G3392A:p.R1131Q,TSC2:NM_000548:exon30:c.G3521A:p.R1174Q,TSC2:NM_001114382:exon30:c.G3521A:p.R1174Q",T,N,N,D,N,T
chr16,11979124,11979124,G,A,P294163_F,GSPT1,Missense_Mutation,NM_001130006,exon10,c.C1258T,p.P420S,SNP,SNVindel,exonic,GSPT1,NA,nonsynonymous SNV,"GSPT1:NM_001130006:exon10:c.C1258T:p.P420S,GSPT1:NM_001130007:exon10:c.C847T:p.P283S,GSPT1:NM_002094:exon10:c.C1261T:p.P421S",T,U,D,T,N,T
chr16,30723264,30723264,C,T,P294163_F,SRCAP,Missense_Mutation,NM_006662,exon12,c.C1601T,p.A534V,SNP,SNVindel,exonic,SRCAP,NA,nonsynonymous SNV,SRCAP:NM_006662:exon12:c.C1601T:p.A534V,T,N,N,D,N,T
chr16,31087952,31087952,C,T,P294163_F,ZNF646,Missense_Mutation,NM_014699,exon2,c.C307T,p.R103C,SNP,SNVindel,exonic,ZNF646,NA,nonsynonymous SNV,ZNF646:NM_014699:exon2:c.C307T:p.R103C,D,.,N,T,N,T
chr16,66592219,66592219,C,T,P294163_F,CKLF,Nonsense_Mutation,NM_001040138,exon2,c.C205T,p.R69X,SNP,SNVindel,exonic,CKLF;CKLF-CMTM1,NA,stopgain,"CKLF:NM_001040138:exon2:c.C205T:p.R69X,CKLF-CMTM1:NM_001204099:exon2:c.C205T:p.R69X,CKLF:NM_016951:exon2:c.C205T:p.R69X,CKLF:NM_181641:exon2:c.C205T:p.R69X",.,.,A,.,.,.
chr17,4905378,4905378,G,A,P294163_F,KIF1C,Missense_Mutation,NM_006612,exon6,c.G388A,p.V130I,SNP,SNVindel,exonic,KIF1C,NA,nonsynonymous SNV,KIF1C:NM_006612:exon6:c.G388A:p.V130I,T,.,D,T,N,T
chr17,39577795,39577795,G,A,P294163_F,KRT37,Silent,NM_003770,exon6,c.C1065T,p.Y355Y,SNP,SNVindel,exonic,KRT37,NA,synonymous SNV,KRT37:NM_003770:exon6:c.C1065T:p.Y355Y,NA,NA,NA,NA,NA,NA
chr17,46865281,46865281,C,T,P294163_F,TTLL6,Missense_Mutation,NM_173623,exon4,c.G560A,p.R187Q,SNP,SNVindel,exonic,TTLL6,NA,nonsynonymous SNV,"TTLL6:NM_173623:exon4:c.G560A:p.R187Q,TTLL6:NM_001130918:exon11:c.G1481A:p.R494Q,TTLL6:NM_001366314:exon11:c.G1022A:p.R341Q",.,N,D,T,.,T
chr17,48272100,48272100,G,A,P294163_F,COL1A1,Silent,NM_000088,exon21,c.C1443T,p.P481P,SNP,SNVindel,exonic,COL1A1,NA,synonymous SNV,COL1A1:NM_000088:exon21:c.C1443T:p.P481P,NA,NA,NA,NA,NA,NA
chr17,73736931,73736931,C,T,P294163_F,ITGB4,Missense_Mutation,NM_001005619,exon21,c.C2608T,p.R870W,SNP,SNVindel,exonic,ITGB4,NA,nonsynonymous SNV,"ITGB4:NM_001005619:exon21:c.C2608T:p.R870W,ITGB4:NM_000213:exon22:c.C2608T:p.R870W,ITGB4:NM_001005731:exon22:c.C2608T:p.R870W,ITGB4:NM_001321123:exon22:c.C2608T:p.R870W",D,D,D,T,D,T
chr17,80706845,80706845,C,T,P294163_F,FN3K,Missense_Mutation,NM_022158,exon5,c.C583T,p.R195W,SNP,SNVindel,exonic,FN3K,NA,nonsynonymous SNV,FN3K:NM_022158:exon5:c.C583T:p.R195W,D,N,N,T,D,T
chr18,48703557,48703557,G,A,P294163_F,MEX3C,Nonsense_Mutation,NM_016626,exon2,c.C1144T,p.R382X,SNP,SNVindel,exonic,MEX3C,NA,stopgain,MEX3C:NM_016626:exon2:c.C1144T:p.R382X,.,D,D,.,.,.
chr19,4354116,4354116,G,A,P294163_F,MPND,Missense_Mutation,NM_001159846,exon5,c.G739A,p.D247N,SNP,SNVindel,exonic,MPND,NA,nonsynonymous SNV,"MPND:NM_001159846:exon5:c.G739A:p.D247N,MPND:NM_001300862:exon5:c.G739A:p.D247N,MPND:NM_032868:exon5:c.G739A:p.D247N",T,D,D,D,N,T
chr19,8649839,8649839,G,A,P294163_F,ADAMTS10,Missense_Mutation,NM_001282352,exon12,c.C1603T,p.P535S,SNP,SNVindel,exonic,ADAMTS10,NA,nonsynonymous SNV,"ADAMTS10:NM_001282352:exon12:c.C1603T:p.P535S,ADAMTS10:NM_030957:exon25:c.C3142T:p.P1048S",T,N,N,T,N,T
chr19,11517144,11517144,G,A,P294163_F,RGL3,Missense_Mutation,NM_001035223,exon7,c.C947T,p.A316V,SNP,SNVindel,exonic,RGL3,NA,nonsynonymous SNV,"RGL3:NM_001035223:exon7:c.C947T:p.A316V,RGL3:NM_001161616:exon7:c.C947T:p.A316V",T,N,N,T,N,T
chr19,23159212,23159212,C,T,P294163_F,ZNF728,Silent,NM_001267716,exon4,c.G927A,p.E309E,SNP,SNVindel,exonic,ZNF728,NA,synonymous SNV,ZNF728:NM_001267716:exon4:c.G927A:p.E309E,NA,NA,NA,NA,NA,NA
chr19,41092729,41092729,C,T,P294163_F,SHKBP1,Silent,NM_138392,exon13,c.C1215T,p.G405G,SNP,SNVindel,exonic,SHKBP1,NA,synonymous SNV,SHKBP1:NM_138392:exon13:c.C1215T:p.G405G,NA,NA,NA,NA,NA,NA
chr19,46178072,46178072,G,A,P294163_F,GIPR,Silent,NM_001308418,exon6,c.G513A,p.A171A,SNP,SNVindel,exonic,GIPR,NA,synonymous SNV,"GIPR:NM_001308418:exon6:c.G513A:p.A171A,GIPR:NM_000164:exon7:c.G621A:p.A207A",NA,NA,NA,NA,NA,NA
chr19,47226110,47226110,C,T,P294163_F,STRN4,Silent,NM_001039877,exon14,c.G1884A,p.E628E,SNP,SNVindel,exonic,STRN4,NA,synonymous SNV,"STRN4:NM_001039877:exon14:c.G1884A:p.E628E,STRN4:NM_013403:exon14:c.G1863A:p.E621E",NA,NA,NA,NA,NA,NA
chr19,47226112,47226112,C,T,P294163_F,STRN4,Missense_Mutation,NM_001039877,exon14,c.G1882A,p.E628K,SNP,SNVindel,exonic,STRN4,NA,nonsynonymous SNV,"STRN4:NM_001039877:exon14:c.G1882A:p.E628K,STRN4:NM_013403:exon14:c.G1861A:p.E621K",D,N,D,T,D,D
chr19,50155728,50155728,G,A,P294163_F,SCAF1,Silent,NM_021228,exon7,c.G2082A,p.T694T,SNP,SNVindel,exonic,SCAF1,NA,synonymous SNV,SCAF1:NM_021228:exon7:c.G2082A:p.T694T,NA,NA,NA,NA,NA,NA
chr20,42788437,42788437,C,T,P294163_F,JPH2,Silent,NM_020433,exon2,c.G990A,p.T330T,SNP,SNVindel,exonic,JPH2,NA,synonymous SNV,JPH2:NM_020433:exon2:c.G990A:p.T330T,NA,NA,NA,NA,NA,NA
chr20,62126434,62126434,G,A,P294163_F,EEF1A2,Silent,NM_001958,exon4,c.C345T,p.I115I,SNP,SNVindel,exonic,EEF1A2,NA,synonymous SNV,EEF1A2:NM_001958:exon4:c.C345T:p.I115I,NA,NA,NA,NA,NA,NA
chr21,42694878,42694878,C,T,P294163_F,FAM3B,Silent,NM_058186,exon2,c.C48T,p.F16F,SNP,SNVindel,exonic,FAM3B,NA,synonymous SNV,FAM3B:NM_058186:exon2:c.C48T:p.F16F,NA,NA,NA,NA,NA,NA
chr22,42415737,42415737,G,A,P294163_F,WBP2NL,Silent,NM_152613,exon3,c.G243A,p.T81T,SNP,SNVindel,exonic,WBP2NL,NA,synonymous SNV,WBP2NL:NM_152613:exon3:c.G243A:p.T81T,NA,NA,NA,NA,NA,NA
chrX,77268393,77268393,C,T,P294163_F,ATP7A,Silent,NM_000052,exon10,c.C2190T,p.Y730Y,SNP,SNVindel,exonic,ATP7A,NA,synonymous SNV,ATP7A:NM_000052:exon10:c.C2190T:p.Y730Y,NA,NA,NA,NA,NA,NA
chrX,140993706,140993706,C,T,P294163_F,MAGEC1,Silent,NM_005462,exon4,c.C516T,p.S172S,SNP,SNVindel,exonic,MAGEC1,NA,synonymous SNV,MAGEC1:NM_005462:exon4:c.C516T:p.S172S,NA,NA,NA,NA,NA,NA
chr1,3639947,3639947,C,T,P294163_S,TP73,Missense_Mutation,NM_001126240,exon4,c.C499T,p.R167C,SNP,SNVindel,exonic,TP73,NA,nonsynonymous SNV,"TP73:NM_001126240:exon4:c.C499T:p.R167C,TP73:NM_001126241:exon4:c.C499T:p.R167C,TP73:NM_001126242:exon4:c.C499T:p.R167C,TP73:NM_001204189:exon4:c.C499T:p.R167C,TP73:NM_001204190:exon4:c.C499T:p.R167C,TP73:NM_001204191:exon4:c.C499T:p.R167C,TP73:NM_001204192:exon4:c.C433T:p.R145C,TP73:NM_001204184:exon6:c.C646T:p.R216C,TP73:NM_001204185:exon6:c.C646T:p.R216C,TP73:NM_001204186:exon6:c.C646T:p.R216C,TP73:NM_001204187:exon6:c.C646T:p.R216C,TP73:NM_001204188:exon6:c.C646T:p.R216C,TP73:NM_005427:exon6:c.C646T:p.R216C",D,D,D,D,D,D
chr1,41236180,41236180,C,T,P294163_S,NFYC,Missense_Mutation,NM_001308114,exon10,c.C1057T,p.H353Y,SNP,SNVindel,exonic,NFYC,NA,nonsynonymous SNV,"NFYC:NM_001308114:exon10:c.C1057T:p.H353Y,NFYC:NM_001308115:exon10:c.C1000T:p.H334Y",D,N,N,T,N,T
chr1,55464932,55464932,C,T,P294163_S,BSND,Missense_Mutation,NM_057176,exon1,c.C73T,p.L25F,SNP,SNVindel,exonic,BSND,NA,nonsynonymous SNV,BSND:NM_057176:exon1:c.C73T:p.L25F,D,N,D,D,N,D
chr1,158533225,158533225,C,T,P294163_S,OR6P1,Missense_Mutation,NM_001160325,exon1,c.G170A,p.R57H,SNP,SNVindel,exonic,OR6P1,NA,nonsynonymous SNV,OR6P1:NM_001160325:exon1:c.G170A:p.R57H,D,N,N,T,D,T
chr2,85895260,85895260,G,A,P294163_S,SFTPB,Missense_Mutation,NM_000542,exon1,c.C47T,p.T16M,SNP,SNVindel,exonic,SFTPB,NA,nonsynonymous SNV,"SFTPB:NM_000542:exon1:c.C47T:p.T16M,SFTPB:NM_001367281:exon1:c.C47T:p.T16M,SFTPB:NM_198843:exon2:c.C47T:p.T16M",T,N,N,T,N,T
chr2,169826571,169826571,T,C,P294163_S,ABCB11,Missense_Mutation,NM_003742,exon15,c.A1793G,p.Q598R,SNP,SNVindel,exonic,ABCB11,NA,nonsynonymous SNV,ABCB11:NM_003742:exon15:c.A1793G:p.Q598R,D,D,D,D,D,D
chr2,242814899,242814899,G,A,P294163_S,RTP5,Missense_Mutation,NM_173821,exon2,c.G1192A,p.V398I,SNP,SNVindel,exonic,RTP5,NA,nonsynonymous SNV,RTP5:NM_173821:exon2:c.G1192A:p.V398I,T,.,N,T,N,T
chr3,49200971,49200971,C,T,P294163_S,CCDC71,Missense_Mutation,NM_022903,exon2,c.G671A,p.R224Q,SNP,SNVindel,exonic,CCDC71,NA,nonsynonymous SNV,CCDC71:NM_022903:exon2:c.G671A:p.R224Q,T,N,N,T,N,T
chr3,186257305,186257305,T,C,P294163_S,CRYGS,Missense_Mutation,NM_017541,exon2,c.A103G,p.S35G,SNP,SNVindel,exonic,CRYGS,NA,nonsynonymous SNV,CRYGS:NM_017541:exon2:c.A103G:p.S35G,D,U,D,T,D,T
chr5,35013071,35013071,A,T,P294163_S,AGXT2,Silent,NM_031900,exon11,c.T1176A,p.S392S,SNP,SNVindel,exonic,AGXT2,NA,synonymous SNV,AGXT2:NM_031900:exon11:c.T1176A:p.S392S,NA,NA,NA,NA,NA,NA
chr5,75913947,75913947,G,A,P294163_S,F2RL2,Silent,NM_001256566,exon2,c.C519T,p.I173I,SNP,SNVindel,exonic,F2RL2,NA,synonymous SNV,"F2RL2:NM_001256566:exon2:c.C519T:p.I173I,F2RL2:NM_004101:exon2:c.C585T:p.I195I",NA,NA,NA,NA,NA,NA
chr6,54002200,54002200,G,A,P294163_S,MLIP,Missense_Mutation,NM_001281746,exon4,c.G1300A,p.A434T,SNP,SNVindel,exonic,MLIP,NA,nonsynonymous SNV,"MLIP:NM_001281746:exon4:c.G1300A:p.A434T,MLIP:NM_001281747:exon4:c.G1333A:p.A445T",T,.,D,T,N,T
chr6,96997437,96997437,G,A,P294163_S,UFL1,Missense_Mutation,NM_015323,exon14,c.G1670A,p.G557E,SNP,SNVindel,exonic,UFL1,NA,nonsynonymous SNV,UFL1:NM_015323:exon14:c.G1670A:p.G557E,D,D,D,T,D,T
chr6,100841631,100841631,G,A,P294163_S,SIM1,Silent,NM_005068,exon10,c.C1302T,p.C434C,SNP,SNVindel,exonic,SIM1,NA,synonymous SNV,SIM1:NM_005068:exon10:c.C1302T:p.C434C,NA,NA,NA,NA,NA,NA
chr6,110763914,110763914,C,T,P294163_S,SLC22A16,Missense_Mutation,NM_033125,exon4,c.G716A,p.R239Q,SNP,SNVindel,exonic,SLC22A16,NA,nonsynonymous SNV,SLC22A16:NM_033125:exon4:c.G716A:p.R239Q,D,D,D,D,D,D
chr6,116288797,116288797,C,T,P294163_S,FRK,Missense_Mutation,NM_002031,exon4,c.G716A,p.R239Q,SNP,SNVindel,exonic,FRK,NA,nonsynonymous SNV,FRK:NM_002031:exon4:c.G716A:p.R239Q,.,N,D,.,.,T
chr6,146126567,146126567,T,G,P294163_S,FBXO30,Silent,NM_001348092,exon2,c.A975C,p.S325S,SNP,SNVindel,exonic,FBXO30,NA,synonymous SNV,"FBXO30:NM_001348092:exon2:c.A975C:p.S325S,FBXO30:NM_032145:exon2:c.A975C:p.S325S",NA,NA,NA,NA,NA,NA
chr7,149556518,149556518,C,T,P294163_S,ZNF862,Silent,NM_001099220,exon6,c.C1125T,p.A375A,SNP,SNVindel,exonic,ZNF862,NA,synonymous SNV,ZNF862:NM_001099220:exon6:c.C1125T:p.A375A,NA,NA,NA,NA,NA,NA
chr8,1497384,1497384,C,T,P294163_S,DLGAP2,Silent,NM_001346810,exon5,c.C765T,p.N255N,SNP,SNVindel,exonic,DLGAP2,NA,synonymous SNV,DLGAP2:NM_001346810:exon5:c.C765T:p.N255N,NA,NA,NA,NA,NA,NA
chr8,10467702,10467702,T,C,P294163_S,RP1L1,Silent,NM_178857,exon4,c.A3906G,p.Q1302Q,SNP,SNVindel,exonic,RP1L1,NA,synonymous SNV,RP1L1:NM_178857:exon4:c.A3906G:p.Q1302Q,NA,NA,NA,NA,NA,NA
chr8,99961078,99961078,C,T,P294163_S,OSR2,Silent,NM_001286841,exon3,c.C261T,p.Y87Y,SNP,SNVindel,exonic,OSR2,NA,synonymous SNV,OSR2:NM_001286841:exon3:c.C261T:p.Y87Y,NA,NA,NA,NA,NA,NA
chr8,101724923,101724923,C,T,P294163_S,PABPC1,Missense_Mutation,NM_002568,exon6,c.G833A,p.R278H,SNP,SNVindel,exonic,PABPC1,NA,nonsynonymous SNV,PABPC1:NM_002568:exon6:c.G833A:p.R278H,D,D,D,T,D,T
chr9,32634687,32634687,C,G,P294163_S,TAF1L,Silent,NM_153809,exon1,c.G891C,p.V297V,SNP,SNVindel,exonic,TAF1L,NA,synonymous SNV,TAF1L:NM_153809:exon1:c.G891C:p.V297V,NA,NA,NA,NA,NA,NA
chr9,128064536,128064536,C,T,P294163_S,GAPVD1,Nonsense_Mutation,NM_001282681,exon3,c.C460T,p.R154X,SNP,SNVindel,exonic,GAPVD1,NA,stopgain,"GAPVD1:NM_001282681:exon3:c.C460T:p.R154X,GAPVD1:NM_001330778:exon3:c.C460T:p.R154X,GAPVD1:NM_001354294:exon3:c.C460T:p.R154X,GAPVD1:NM_001354298:exon3:c.C460T:p.R154X,GAPVD1:NM_015635:exon3:c.C460T:p.R154X,GAPVD1:NM_001330777:exon4:c.C460T:p.R154X,GAPVD1:NM_001354295:exon4:c.C460T:p.R154X,GAPVD1:NM_001354300:exon4:c.C460T:p.R154X,GAPVD1:NM_001282679:exon5:c.C460T:p.R154X,GAPVD1:NM_001282680:exon5:c.C460T:p.R154X,GAPVD1:NM_001354293:exon5:c.C460T:p.R154X,GAPVD1:NM_001354296:exon5:c.C460T:p.R154X,GAPVD1:NM_001354297:exon5:c.C460T:p.R154X,GAPVD1:NM_001354301:exon5:c.C460T:p.R154X,GAPVD1:NM_001354299:exon6:c.C460T:p.R154X",.,D,A,.,.,.
chr10,117226743,117226743,G,A,P294163_S,ATRNL1,Silent,NM_207303,exon23,c.G3477A,p.T1159T,SNP,SNVindel,exonic,ATRNL1,NA,synonymous SNV,ATRNL1:NM_207303:exon23:c.G3477A:p.T1159T,NA,NA,NA,NA,NA,NA
chr11,100211267,100211267,G,A,P294163_S,CNTN5,Missense_Mutation,NM_175566,exon19,c.G2581A,p.V861I,SNP,SNVindel,exonic,CNTN5,NA,nonsynonymous SNV,"CNTN5:NM_175566:exon19:c.G2581A:p.V861I,CNTN5:NM_001243270:exon21:c.G2803A:p.V935I,CNTN5:NM_014361:exon22:c.G2803A:p.V935I",T,N,N,T,N,T
chr11,116701560,116701560,G,A,P294163_S,APOC3,Missense_Mutation,NM_000040,exon3,c.G127A,p.A43T,SNP,SNVindel,exonic,APOC3,NA,nonsynonymous SNV,APOC3:NM_000040:exon3:c.G127A:p.A43T,D,N,N,D,D,D
chr11,123900554,123900554,G,A,P294163_S,OR10G8,Silent,NM_001004464,exon1,c.G225A,p.T75T,SNP,SNVindel,exonic,OR10G8,NA,synonymous SNV,OR10G8:NM_001004464:exon1:c.G225A:p.T75T,NA,NA,NA,NA,NA,NA
chr12,2017072,2017072,G,A,P294163_S,CACNA2D4,Silent,NM_172364,exon5,c.C618T,p.S206S,SNP,SNVindel,exonic,CACNA2D4,NA,synonymous SNV,CACNA2D4:NM_172364:exon5:c.C618T:p.S206S,NA,NA,NA,NA,NA,NA
chr12,6709411,6709411,G,A,P294163_S,CHD4,Missense_Mutation,NM_001297553,exon8,c.C1193T,p.P398L,SNP,SNVindel,exonic,CHD4,NA,nonsynonymous SNV,"CHD4:NM_001297553:exon8:c.C1193T:p.P398L,CHD4:NM_001273:exon9:c.C1214T:p.P405L,CHD4:NM_001363606:exon9:c.C1175T:p.P392L",D,D,D,D,D,D
chr12,97052040,97052040,G,A,P294163_S,CFAP54,Silent,NM_001306084,exon38,c.G5376A,p.Q1792Q,SNP,SNVindel,exonic,CFAP54,NA,synonymous SNV,"CFAP54:NM_001306084:exon38:c.G5376A:p.Q1792Q,CFAP54:NM_001367885:exon38:c.G5376A:p.Q1792Q",NA,NA,NA,NA,NA,NA
chr12,120875958,120875958,C,T,P294163_S,COX6A1,Missense_Mutation,NM_004373,exon1,c.C29T,p.S10F,SNP,SNVindel,exonic,COX6A1,NA,nonsynonymous SNV,COX6A1:NM_004373:exon1:c.C29T:p.S10F,D,N,N,.,D,T
chr12,124421797,124421797,G,A,P294163_S,CCDC92,Silent,NM_001304961,exon4,c.C753T,p.I251I,SNP,SNVindel,exonic,CCDC92,NA,synonymous SNV,"CCDC92:NM_001304961:exon4:c.C753T:p.I251I,CCDC92:NM_001304957:exon5:c.C804T:p.I268I,CCDC92:NM_001304959:exon5:c.C804T:p.I268I,CCDC92:NM_025140:exon5:c.C804T:p.I268I,CCDC92:NM_001304958:exon6:c.C804T:p.I268I,CCDC92:NM_001304960:exon7:c.C804T:p.I268I",NA,NA,NA,NA,NA,NA
chr14,19553760,19553760,G,A,P294163_S,POTEG,Missense_Mutation,NM_001005356,exon1,c.G344A,p.S115N,SNP,SNVindel,exonic,POTEG,NA,nonsynonymous SNV,POTEG:NM_001005356:exon1:c.G344A:p.S115N,T,.,N,T,N,T
chr14,23874460,23874460,G,A,P294163_S,MYH6,Silent,NM_002471,exon5,c.C474T,p.S158S,SNP,SNVindel,exonic,MYH6,NA,synonymous SNV,MYH6:NM_002471:exon5:c.C474T:p.S158S,NA,NA,NA,NA,NA,NA
chr14,50307555,50307555,G,A,P294163_S,NEMF,Silent,NM_001301732,exon5,c.C387T,p.Y129Y,SNP,SNVindel,exonic,NEMF,NA,synonymous SNV,"NEMF:NM_001301732:exon5:c.C387T:p.Y129Y,NEMF:NM_004713:exon5:c.C387T:p.Y129Y",NA,NA,NA,NA,NA,NA
chr15,31332341,31332341,G,A,P294163_S,TRPM1,Missense_Mutation,NM_001252020,exon17,c.C2347T,p.R783W,SNP,SNVindel,exonic,TRPM1,NA,nonsynonymous SNV,"TRPM1:NM_001252020:exon17:c.C2347T:p.R783W,TRPM1:NM_002420:exon17:c.C2230T:p.R744W,TRPM1:NM_001252024:exon18:c.C2296T:p.R766W",D,D,D,T,D,D
chr15,34355690,34355690,C,T,P294163_S,CHRM5,Nonsense_Mutation,NM_001320917,exon2,c.C772T,p.R258X,SNP,SNVindel,exonic,CHRM5,NA,stopgain,"CHRM5:NM_001320917:exon2:c.C772T:p.R258X,CHRM5:NM_012125:exon3:c.C772T:p.R258X",.,N,D,.,.,.
chr15,78317740,78317740,C,T,P294163_S,TBC1D2B,Missense_Mutation,NM_015079,exon5,c.G947A,p.S316N,SNP,SNVindel,exonic,TBC1D2B,NA,nonsynonymous SNV,"TBC1D2B:NM_015079:exon5:c.G947A:p.S316N,TBC1D2B:NM_144572:exon5:c.G947A:p.S316N",T,N,N,T,N,T
chr16,2130289,2130289,G,A,P294163_S,TSC2,Missense_Mutation,NM_001318831,exon26,c.G2789A,p.R930Q,SNP,SNVindel,exonic,TSC2,NA,nonsynonymous SNV,"TSC2:NM_001318831:exon26:c.G2789A:p.R930Q,TSC2:NM_001318827:exon28:c.G3281A:p.R1094Q,TSC2:NM_001318829:exon28:c.G3245A:p.R1082Q,TSC2:NM_001077183:exon29:c.G3389A:p.R1130Q,TSC2:NM_001318832:exon29:c.G3422A:p.R1141Q,TSC2:NM_001363528:exon29:c.G3392A:p.R1131Q,TSC2:NM_001370404:exon29:c.G3389A:p.R1130Q,TSC2:NM_001370405:exon29:c.G3392A:p.R1131Q,TSC2:NM_021055:exon29:c.G3392A:p.R1131Q,TSC2:NM_000548:exon30:c.G3521A:p.R1174Q,TSC2:NM_001114382:exon30:c.G3521A:p.R1174Q",T,N,N,D,N,T
chr16,30958261,30958261,A,G,P294163_S,FBXL19,Missense_Mutation,NM_001099784,exon10,c.A1898G,p.N633S,SNP,SNVindel,exonic,FBXL19,NA,nonsynonymous SNV,"FBXL19:NM_001099784:exon10:c.A1898G:p.N633S,FBXL19:NM_001282351:exon10:c.A962G:p.N321S",T,D,D,T,D,T
chr16,31087952,31087952,C,T,P294163_S,ZNF646,Missense_Mutation,NM_014699,exon2,c.C307T,p.R103C,SNP,SNVindel,exonic,ZNF646,NA,nonsynonymous SNV,ZNF646:NM_014699:exon2:c.C307T:p.R103C,D,.,N,T,N,T
chr16,53340192,53340192,G,A,P294163_S,CHD9,Silent,NM_001308319,exon31,c.G6663A,p.A2221A,SNP,SNVindel,exonic,CHD9,NA,synonymous SNV,"CHD9:NM_001308319:exon31:c.G6663A:p.A2221A,CHD9:NM_001352156:exon31:c.G5244A:p.A1748A,CHD9:NM_001352157:exon31:c.G5244A:p.A1748A,CHD9:NM_001352158:exon31:c.G5145A:p.A1715A,CHD9:NM_001352127:exon32:c.G6663A:p.A2221A,CHD9:NM_025134:exon32:c.G6663A:p.A2221A",NA,NA,NA,NA,NA,NA
chr17,4905378,4905378,G,A,P294163_S,KIF1C,Missense_Mutation,NM_006612,exon6,c.G388A,p.V130I,SNP,SNVindel,exonic,KIF1C,NA,nonsynonymous SNV,KIF1C:NM_006612:exon6:c.G388A:p.V130I,T,.,D,T,N,T
chr17,26694876,26694876,C,T,P294163_S,VTN,Missense_Mutation,NM_000638,exon7,c.G1184A,p.R395Q,SNP,SNVindel,exonic,VTN,NA,nonsynonymous SNV,VTN:NM_000638:exon7:c.G1184A:p.R395Q,T,D,D,T,N,T
chr17,40935972,40935972,G,A,P294163_S,WNK4,Missense_Mutation,NM_032387,exon3,c.G809A,p.R270Q,SNP,SNVindel,exonic,WNK4,NA,nonsynonymous SNV,WNK4:NM_032387:exon3:c.G809A:p.R270Q,D,D,D,T,N,T
chr17,80706845,80706845,C,T,P294163_S,FN3K,Missense_Mutation,NM_022158,exon5,c.C583T,p.R195W,SNP,SNVindel,exonic,FN3K,NA,nonsynonymous SNV,FN3K:NM_022158:exon5:c.C583T:p.R195W,D,N,N,T,D,T
chr19,17338758,17338758,G,A,P294163_S,OCEL1,Missense_Mutation,NM_024578,exon4,c.G562A,p.A188T,SNP,SNVindel,exonic,OCEL1,NA,nonsynonymous SNV,OCEL1:NM_024578:exon4:c.G562A:p.A188T,T,N,N,T,N,T
chr19,17598101,17598101,C,T,P294163_S,SLC27A1,Silent,NM_198580,exon3,c.C681T,p.A227A,SNP,SNVindel,exonic,SLC27A1,NA,synonymous SNV,SLC27A1:NM_198580:exon3:c.C681T:p.A227A,NA,NA,NA,NA,NA,NA
chr19,18961677,18961677,G,A,P294163_S,UPF1,Silent,NM_001297549,exon5,c.G810A,p.K270K,SNP,SNVindel,exonic,UPF1,NA,synonymous SNV,"UPF1:NM_001297549:exon5:c.G810A:p.K270K,UPF1:NM_002911:exon5:c.G810A:p.K270K",NA,NA,NA,NA,NA,NA
chr19,23159212,23159212,C,T,P294163_S,ZNF728,Silent,NM_001267716,exon4,c.G927A,p.E309E,SNP,SNVindel,exonic,ZNF728,NA,synonymous SNV,ZNF728:NM_001267716:exon4:c.G927A:p.E309E,NA,NA,NA,NA,NA,NA
chr19,47856824,47856824,G,A,P294163_S,DHX34,Silent,NM_014681,exon2,c.G537A,p.Q179Q,SNP,SNVindel,exonic,DHX34,NA,synonymous SNV,DHX34:NM_014681:exon2:c.G537A:p.Q179Q,NA,NA,NA,NA,NA,NA
chr20,35284931,35284931,G,A,P294163_S,NDRG3,Missense_Mutation,NM_022477,exon13,c.C827T,p.A276V,SNP,SNVindel,exonic,NDRG3,NA,nonsynonymous SNV,"NDRG3:NM_022477:exon13:c.C827T:p.A276V,NDRG3:NM_032013:exon14:c.C863T:p.A288V",D,D,D,T,D,T
chr20,36850920,36850920,C,T,P294163_S,KIAA1755,Missense_Mutation,NM_001348708,exon8,c.G1301A,p.R434Q,SNP,SNVindel,exonic,KIAA1755,NA,nonsynonymous SNV,"KIAA1755:NM_001348708:exon8:c.G1301A:p.R434Q,KIAA1755:NM_001029864:exon10:c.G2348A:p.R783Q",T,D,D,T,N,T
chrX,69479288,69479288,G,A,P294163_S,P2RY4,Missense_Mutation,NM_002565,exon1,c.C187T,p.R63C,SNP,SNVindel,exonic,P2RY4,NA,nonsynonymous SNV,P2RY4:NM_002565:exon1:c.C187T:p.R63C,D,U,D,T,D,T
chr1,26392850,26392850,C,G,P299664_F,TRIM63,Missense_Mutation,NM_032588,exon2,c.G241C,p.E81Q,SNP,SNVindel,exonic,TRIM63,NA,nonsynonymous SNV,TRIM63:NM_032588:exon2:c.G241C:p.E81Q,D,D,D,T,D,T
chr1,33330377,33330377,C,T,P299664_F,FNDC5,Missense_Mutation,NM_001171940,exon5,c.G521A,p.R174H,SNP,SNVindel,exonic,FNDC5,NA,nonsynonymous SNV,"FNDC5:NM_001171940:exon5:c.G521A:p.R174H,FNDC5:NM_001171941:exon5:c.G296A:p.R99H,FNDC5:NM_153756:exon5:c.G521A:p.R174H",.,D,D,.,.,T
chr1,36026292,36026292,C,T,P299664_F,NCDN,Silent,NM_001014841,exon3,c.C489T,p.A163A,SNP,SNVindel,exonic,NCDN,NA,synonymous SNV,"NCDN:NM_001014841:exon3:c.C489T:p.A163A,NCDN:NM_014284:exon3:c.C540T:p.A180A,NCDN:NM_001014839:exon4:c.C540T:p.A180A",NA,NA,NA,NA,NA,NA
chr1,207520889,207520889,G,A,P299664_F,CD55,Silent,NM_001300903,exon10,c.G1179A,p.E393E,SNP,SNVindel,exonic,CD55,NA,synonymous SNV,CD55:NM_001300903:exon10:c.G1179A:p.E393E,NA,NA,NA,NA,NA,NA
chr2,113300159,113300159,C,A,P299664_F,POLR1B,Missense_Mutation,NM_001137604,exon1,c.C88A,p.Q30K,SNP,SNVindel,exonic,POLR1B,NA,nonsynonymous SNV,"POLR1B:NM_001137604:exon1:c.C88A:p.Q30K,POLR1B:NM_001282774:exon1:c.C88A:p.Q30K,POLR1B:NM_019014:exon1:c.C88A:p.Q30K,POLR1B:NM_001282772:exon2:c.C202A:p.Q68K",T,N,D,T,N,T
chr2,127828390,127828390,C,T,P299664_F,BIN1,Silent,NM_001320632,exon3,c.G168A,p.T56T,SNP,SNVindel,exonic,BIN1,NA,synonymous SNV,"BIN1:NM_001320632:exon3:c.G168A:p.T56T,BIN1:NM_001320633:exon3:c.G168A:p.T56T,BIN1:NM_001320634:exon3:c.G96A:p.T32T,BIN1:NM_001320640:exon3:c.G168A:p.T56T,BIN1:NM_001320641:exon3:c.G168A:p.T56T,BIN1:NM_001320642:exon3:c.G87A:p.T29T,BIN1:NM_004305:exon3:c.G168A:p.T56T,BIN1:NM_139343:exon3:c.G168A:p.T56T,BIN1:NM_139344:exon3:c.G168A:p.T56T,BIN1:NM_139345:exon3:c.G168A:p.T56T,BIN1:NM_139346:exon3:c.G168A:p.T56T,BIN1:NM_139347:exon3:c.G168A:p.T56T,BIN1:NM_139348:exon3:c.G168A:p.T56T,BIN1:NM_139349:exon3:c.G168A:p.T56T,BIN1:NM_139350:exon3:c.G168A:p.T56T,BIN1:NM_139351:exon3:c.G168A:p.T56T",NA,NA,NA,NA,NA,NA
chr2,209113112,209113112,C,T,P299664_F,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,234237198,234237198,C,T,P299664_F,SAG,Missense_Mutation,NM_000541,exon8,c.C587T,p.A196V,SNP,SNVindel,exonic,SAG,NA,nonsynonymous SNV,SAG:NM_000541:exon8:c.C587T:p.A196V,T,D,D,T,N,T
chr3,48810448,48810448,C,T,P299664_F,PRKAR2A,Missense_Mutation,NM_001321989,exon5,c.G552A,p.M184I,SNP,SNVindel,exonic,PRKAR2A,NA,nonsynonymous SNV,"PRKAR2A:NM_001321989:exon5:c.G552A:p.M184I,PRKAR2A:NM_001321982:exon6:c.G636A:p.M212I,PRKAR2A:NM_001321983:exon6:c.G636A:p.M212I,PRKAR2A:NM_004157:exon6:c.G636A:p.M212I",D,D,D,D,D,D
chr3,97753831,97753831,T,C,P299664_F,GABRR3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,GABRR3,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr3,150421527,150421527,C,T,P299664_F,ERICH6,Silent,NM_152394,exon1,c.G159A,p.E53E,SNP,SNVindel,exonic,ERICH6,NA,synonymous SNV,ERICH6:NM_152394:exon1:c.G159A:p.E53E,NA,NA,NA,NA,NA,NA
chr4,86898759,86898759,C,T,P299664_F,ARHGAP24,Silent,NM_001346093,exon5,c.C264T,p.N88N,SNP,SNVindel,exonic,ARHGAP24,NA,synonymous SNV,"ARHGAP24:NM_001346093:exon5:c.C264T:p.N88N,ARHGAP24:NM_031305:exon5:c.C564T:p.N188N,ARHGAP24:NM_001042669:exon6:c.C558T:p.N186N,ARHGAP24:NM_001287805:exon6:c.C588T:p.N196N,ARHGAP24:NM_001025616:exon8:c.C843T:p.N281N",NA,NA,NA,NA,NA,NA
chr5,140202724,140202724,C,T,P299664_F,PCDHA5,Missense_Mutation,NM_018908,exon1,c.C1364T,p.A455V,SNP,SNVindel,exonic,PCDHA5,NA,nonsynonymous SNV,"PCDHA5:NM_018908:exon1:c.C1364T:p.A455V,PCDHA5:NM_031501:exon1:c.C1364T:p.A455V",D,.,N,T,D,T
chr5,140573922,140573922,C,T,P299664_F,PCDHB10,Silent,NM_018930,exon1,c.C1797T,p.N599N,SNP,SNVindel,exonic,PCDHB10,NA,synonymous SNV,PCDHB10:NM_018930:exon1:c.C1797T:p.N599N,NA,NA,NA,NA,NA,NA
chr6,27114425,27114425,G,A,P299664_F,HIST1H2BK,Silent,NM_001312653,exon1,c.C153T,p.P51P,SNP,SNVindel,exonic,HIST1H2BK,NA,synonymous SNV,"HIST1H2BK:NM_001312653:exon1:c.C153T:p.P51P,HIST1H2BK:NM_080593:exon1:c.C153T:p.P51P",NA,NA,NA,NA,NA,NA
chr7,43594379,43594379,T,C,P299664_F,HECW1,Missense_Mutation,NM_001287059,exon27,c.T4597C,p.S1533P,SNP,SNVindel,exonic,HECW1,NA,nonsynonymous SNV,"HECW1:NM_001287059:exon27:c.T4597C:p.S1533P,HECW1:NM_015052:exon29:c.T4699C:p.S1567P",D,D,D,T,D,T
chr8,21833993,21833993,G,A,P299664_F,XPO7,Missense_Mutation,NM_001362802,exon6,c.G658A,p.D220N,SNP,SNVindel,exonic,XPO7,NA,nonsynonymous SNV,"XPO7:NM_001362802:exon6:c.G658A:p.D220N,XPO7:NM_001100161:exon7:c.G751A:p.D251N,XPO7:NM_015024:exon7:c.G724A:p.D242N",D,D,D,T,D,D
chr8,42586889,42586889,G,A,P299664_F,CHRNB3,Missense_Mutation,NM_000749,exon5,c.G439A,p.A147T,SNP,SNVindel,exonic,CHRNB3,NA,nonsynonymous SNV,"CHRNB3:NM_000749:exon5:c.G439A:p.A147T,CHRNB3:NM_001347717:exon6:c.G217A:p.A73T",D,D,D,T,D,D
chr8,73982070,73982070,C,T,P299664_F,SBSPON,Missense_Mutation,NM_153225,exon4,c.G647A,p.R216H,SNP,SNVindel,exonic,SBSPON,NA,nonsynonymous SNV,SBSPON:NM_153225:exon4:c.G647A:p.R216H,T,N,D,T,D,T
chr8,124658087,124658087,G,A,P299664_F,KLHL38,Silent,NM_001081675,exon4,c.C1638T,p.Y546Y,SNP,SNVindel,exonic,KLHL38,NA,synonymous SNV,KLHL38:NM_001081675:exon4:c.C1638T:p.Y546Y,NA,NA,NA,NA,NA,NA
chr9,107367529,107367529,C,A,P299664_F,OR13C2,Missense_Mutation,NM_001004481,exon1,c.G380T,p.C127F,SNP,SNVindel,exonic,OR13C2,NA,nonsynonymous SNV,OR13C2:NM_001004481:exon1:c.G380T:p.C127F,D,U,D,T,D,T
chr9,111812854,111812854,G,C,P299664_F,TMEM245,Missense_Mutation,NM_032012,exon13,c.C1973G,p.S658C,SNP,SNVindel,exonic,TMEM245,NA,nonsynonymous SNV,TMEM245:NM_032012:exon13:c.C1973G:p.S658C,D,D,D,T,D,T
chr9,117846593,117846593,A,C,P299664_F,TNC,Missense_Mutation,NM_002160,exon4,c.T2026G,p.S676A,SNP,SNVindel,exonic,TNC,NA,nonsynonymous SNV,TNC:NM_002160:exon4:c.T2026G:p.S676A,T,D,D,T,N,T
chr10,43613928,43613928,G,T,P299664_F,RET,Missense_Mutation,NM_001355216,exon10,c.G1630T,p.G544C,SNP,SNVindel,exonic,RET,NA,nonsynonymous SNV,"RET:NM_001355216:exon10:c.G1630T:p.G544C,RET:NM_020630:exon13:c.G2392T:p.G798C,RET:NM_020975:exon13:c.G2392T:p.G798C",D,D,D,D,D,D
chr10,45938491,45938491,C,T,P299664_F,ALOX5,Silent,NM_000698,exon10,c.C1278T,p.N426N,SNP,SNVindel,exonic,ALOX5,NA,synonymous SNV,"ALOX5:NM_000698:exon10:c.C1278T:p.N426N,ALOX5:NM_001256154:exon10:c.C1278T:p.N426N,ALOX5:NM_001320862:exon10:c.C843T:p.N281N",NA,NA,NA,NA,NA,NA
chr10,50534529,50534529,G,A,P299664_F,C10orf71,Silent,NM_001135196,exon3,c.G3939A,p.P1313P,SNP,SNVindel,exonic,C10orf71,NA,synonymous SNV,C10orf71:NM_001135196:exon3:c.G3939A:p.P1313P,NA,NA,NA,NA,NA,NA
chr11,14490247,14490247,G,C,P299664_F,COPB1,Missense_Mutation,NM_001144061,exon16,c.C2125G,p.L709V,SNP,SNVindel,exonic,COPB1,NA,nonsynonymous SNV,"COPB1:NM_001144061:exon16:c.C2125G:p.L709V,COPB1:NM_001144062:exon16:c.C2125G:p.L709V,COPB1:NM_016451:exon16:c.C2125G:p.L709V",T,D,D,T,N,T
chr11,59599212,59599212,C,T,P299664_F,CBLIF,Silent,NM_005142,exon8,c.G1131A,p.A377A,SNP,SNVindel,exonic,CBLIF,NA,synonymous SNV,CBLIF:NM_005142:exon8:c.G1131A:p.A377A,NA,NA,NA,NA,NA,NA
chr11,73073566,73073566,G,C,P299664_F,ARHGEF17,Missense_Mutation,NM_014786,exon14,c.G4783C,p.E1595Q,SNP,SNVindel,exonic,ARHGEF17,NA,nonsynonymous SNV,ARHGEF17:NM_014786:exon14:c.G4783C:p.E1595Q,T,N,D,T,N,T
chr12,11420841,11420841,T,C,P299664_F,PRB3,Silent,NM_006249,exon3,c.A342G,p.P114P,SNP,SNVindel,exonic,PRB3,NA,synonymous SNV,PRB3:NM_006249:exon3:c.A342G:p.P114P,NA,NA,NA,NA,NA,NA
chr12,40745363,40745363,C,G,P299664_F,LRRK2,Missense_Mutation,NM_198578,exon44,c.C6404G,p.A2135G,SNP,SNVindel,exonic,LRRK2,NA,nonsynonymous SNV,LRRK2:NM_198578:exon44:c.C6404G:p.A2135G,T,D,D,T,N,T
chr12,46245723,46245723,C,T,P299664_F,ARID2,Nonsense_Mutation,NM_001347839,exon15,c.C3817T,p.R1273X,SNP,SNVindel,exonic,ARID2,NA,stopgain,"ARID2:NM_001347839:exon15:c.C3817T:p.R1273X,ARID2:NM_152641:exon15:c.C3817T:p.R1273X",.,D,A,.,.,.
chr12,56848067,56848067,C,A,P299664_F,MIP,Missense_Mutation,NM_012064,exon1,c.G331T,p.A111S,SNP,SNVindel,exonic,MIP,NA,nonsynonymous SNV,MIP:NM_012064:exon1:c.G331T:p.A111S,T,D,D,D,N,T
chr15,25971192,25971192,G,A,P299664_F,ATP10A,Silent,NM_024490,exon5,c.C885T,p.P295P,SNP,SNVindel,exonic,ATP10A,NA,synonymous SNV,ATP10A:NM_024490:exon5:c.C885T:p.P295P,NA,NA,NA,NA,NA,NA
chr15,42155095,42155095,G,T,P299664_F,SPTBN5,Missense_Mutation,NM_016642,exon42,c.C7156A,p.L2386M,SNP,SNVindel,exonic,SPTBN5,NA,nonsynonymous SNV,SPTBN5:NM_016642:exon42:c.C7156A:p.L2386M,D,N,N,T,N,T
chr15,44964235,44964235,C,T,P299664_F,PATL2,Missense_Mutation,NM_001330283,exon6,c.G68A,p.R23H,SNP,SNVindel,exonic,PATL2,NA,nonsynonymous SNV,"PATL2:NM_001330283:exon6:c.G68A:p.R23H,PATL2:NM_001145112:exon7:c.G635A:p.R212H",T,.,N,T,N,T
chr16,97530,97530,C,A,P299664_F,POLR3K,Missense_Mutation,NM_016310,exon3,c.G227T,p.R76L,SNP,SNVindel,exonic,POLR3K,NA,nonsynonymous SNV,POLR3K:NM_016310:exon3:c.G227T:p.R76L,D,D,D,T,D,T
chr16,2328391,2328391,T,C,P299664_F,ABCA3,Missense_Mutation,NM_001089,exon30,c.A4616G,p.D1539G,SNP,SNVindel,exonic,ABCA3,NA,nonsynonymous SNV,ABCA3:NM_001089:exon30:c.A4616G:p.D1539G,D,D,D,D,D,D
chr16,66437039,66437039,C,T,P299664_F,CDH5,Silent,NM_001795,exon12,c.C2322T,p.Y774Y,SNP,SNVindel,exonic,CDH5,NA,synonymous SNV,CDH5:NM_001795:exon12:c.C2322T:p.Y774Y,NA,NA,NA,NA,NA,NA
chr17,7577106,7577106,G,A,P299664_F,TP53,Missense_Mutation,NM_001126115,exon4,c.C436T,p.P146S,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon4:c.C436T:p.P146S,TP53:NM_001126116:exon4:c.C436T:p.P146S,TP53:NM_001126117:exon4:c.C436T:p.P146S,TP53:NM_001276697:exon4:c.C355T:p.P119S,TP53:NM_001276698:exon4:c.C355T:p.P119S,TP53:NM_001276699:exon4:c.C355T:p.P119S,TP53:NM_001126118:exon7:c.C715T:p.P239S,TP53:NM_000546:exon8:c.C832T:p.P278S,TP53:NM_001126112:exon8:c.C832T:p.P278S,TP53:NM_001126113:exon8:c.C832T:p.P278S,TP53:NM_001126114:exon8:c.C832T:p.P278S,TP53:NM_001276695:exon8:c.C715T:p.P239S,TP53:NM_001276696:exon8:c.C715T:p.P239S,TP53:NM_001276760:exon8:c.C715T:p.P239S,TP53:NM_001276761:exon8:c.C715T:p.P239S",D,D,D,D,D,D
chr17,17697105,17697105,G,A,P299664_F,RAI1,Silent,NM_030665,exon3,c.G843A,p.Q281Q,SNP,SNVindel,exonic,RAI1,NA,synonymous SNV,RAI1:NM_030665:exon3:c.G843A:p.Q281Q,NA,NA,NA,NA,NA,NA
chr17,66511642,66511642,T,C,P299664_F,PRKAR1A,Silent,NM_001276290,exon1,c.T102C,p.S34S,SNP,SNVindel,exonic,PRKAR1A,NA,synonymous SNV,"PRKAR1A:NM_001276290:exon1:c.T102C:p.S34S,PRKAR1A:NM_001278433:exon2:c.T102C:p.S34S,PRKAR1A:NM_001369390:exon2:c.T102C:p.S34S,PRKAR1A:NM_002734:exon2:c.T102C:p.S34S,PRKAR1A:NM_212471:exon2:c.T102C:p.S34S,PRKAR1A:NM_212472:exon2:c.T102C:p.S34S,PRKAR1A:NM_001276289:exon3:c.T102C:p.S34S,PRKAR1A:NM_001369389:exon3:c.T102C:p.S34S",NA,NA,NA,NA,NA,NA
chr19,6680224,6680224,A,G,P299664_F,C3,Silent,NM_000064,exon36,c.T4401C,p.F1467F,SNP,SNVindel,exonic,C3,NA,synonymous SNV,C3:NM_000064:exon36:c.T4401C:p.F1467F,NA,NA,NA,NA,NA,NA
chr19,58772865,58772865,A,T,P299664_F,ZNF544,Missense_Mutation,NM_001320770,exon6,c.A809T,p.Y270F,SNP,SNVindel,exonic,ZNF544,NA,nonsynonymous SNV,"ZNF544:NM_001320770:exon6:c.A809T:p.Y270F,ZNF544:NM_001320771:exon6:c.A809T:p.Y270F,ZNF544:NM_001320773:exon6:c.A809T:p.Y270F,ZNF544:NM_001320767:exon7:c.A893T:p.Y298F,ZNF544:NM_001320769:exon7:c.A893T:p.Y298F,ZNF544:NM_014480:exon7:c.A893T:p.Y298F",T,.,N,T,D,T
chr21,45773662,45773662,C,A,P299664_F,TRPM2,Missense_Mutation,NM_001320350,exon1,c.C79A,p.L27M,SNP,SNVindel,exonic,TRPM2,NA,nonsynonymous SNV,"TRPM2:NM_001320350:exon1:c.C79A:p.L27M,TRPM2:NM_001320351:exon1:c.C79A:p.L27M,TRPM2:NM_003307:exon1:c.C79A:p.L27M",T,N,N,T,N,T
chrX,76813055,76813055,A,G,P299664_F,ATRX,Missense_Mutation,NM_138270,exon29,c.T6452C,p.V2151A,SNP,SNVindel,exonic,ATRX,NA,nonsynonymous SNV,"ATRX:NM_138270:exon29:c.T6452C:p.V2151A,ATRX:NM_000489:exon30:c.T6566C:p.V2189A",D,D,D,D,D,D
chr1,33330377,33330377,C,T,P299664_S,FNDC5,Missense_Mutation,NM_001171940,exon5,c.G521A,p.R174H,SNP,SNVindel,exonic,FNDC5,NA,nonsynonymous SNV,"FNDC5:NM_001171940:exon5:c.G521A:p.R174H,FNDC5:NM_001171941:exon5:c.G296A:p.R99H,FNDC5:NM_153756:exon5:c.G521A:p.R174H",.,D,D,.,.,T
chr1,39879318,39879318,A,C,P299664_S,KIAA0754,Silent,NM_015038,exon1,c.A3381C,p.P1127P,SNP,SNVindel,exonic,KIAA0754,NA,synonymous SNV,KIAA0754:NM_015038:exon1:c.A3381C:p.P1127P,NA,NA,NA,NA,NA,NA
chr1,145296448,145296448,T,A,P299664_S,NBPF10,Missense_Mutation,NM_001039703,exon3,c.T370A,p.Y124N,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon3:c.T370A:p.Y124N,NBPF10:NM_001302371:exon3:c.T370A:p.Y124N",NA,NA,NA,NA,NA,NA
chr1,148344722,148344722,G,C,P299664_S,NBPF14,Missense_Mutation,NM_001351372,exon2,c.C196G,p.L66V,SNP,SNVindel,exonic,NBPF14;NBPF19;NBPF26,NA,nonsynonymous SNV,"NBPF26:NM_001351372:exon2:c.C196G:p.L66V,NBPF14:NM_015383:exon2:c.C196G:p.L66V",.,.,.,.,.,T
chr1,196797357,196797357,A,G,P299664_S,CFHR1,Silent,NM_002113,exon4,c.A588G,p.T196T,SNP,SNVindel,exonic,CFHR1,NA,synonymous SNV,CFHR1:NM_002113:exon4:c.A588G:p.T196T,NA,NA,NA,NA,NA,NA
chr2,96521154,96521154,C,G,P299664_S,ANKRD36C,Missense_Mutation,NM_001310154,exon84,c.G5953C,p.D1985H,SNP,SNVindel,exonic,ANKRD36C,NA,nonsynonymous SNV,ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,T,.,N,T,N,T
chr2,113300159,113300159,C,A,P299664_S,POLR1B,Missense_Mutation,NM_001137604,exon1,c.C88A,p.Q30K,SNP,SNVindel,exonic,POLR1B,NA,nonsynonymous SNV,"POLR1B:NM_001137604:exon1:c.C88A:p.Q30K,POLR1B:NM_001282774:exon1:c.C88A:p.Q30K,POLR1B:NM_019014:exon1:c.C88A:p.Q30K,POLR1B:NM_001282772:exon2:c.C202A:p.Q68K",T,N,D,T,N,T
chr2,127828390,127828390,C,T,P299664_S,BIN1,Silent,NM_001320632,exon3,c.G168A,p.T56T,SNP,SNVindel,exonic,BIN1,NA,synonymous SNV,"BIN1:NM_001320632:exon3:c.G168A:p.T56T,BIN1:NM_001320633:exon3:c.G168A:p.T56T,BIN1:NM_001320634:exon3:c.G96A:p.T32T,BIN1:NM_001320640:exon3:c.G168A:p.T56T,BIN1:NM_001320641:exon3:c.G168A:p.T56T,BIN1:NM_001320642:exon3:c.G87A:p.T29T,BIN1:NM_004305:exon3:c.G168A:p.T56T,BIN1:NM_139343:exon3:c.G168A:p.T56T,BIN1:NM_139344:exon3:c.G168A:p.T56T,BIN1:NM_139345:exon3:c.G168A:p.T56T,BIN1:NM_139346:exon3:c.G168A:p.T56T,BIN1:NM_139347:exon3:c.G168A:p.T56T,BIN1:NM_139348:exon3:c.G168A:p.T56T,BIN1:NM_139349:exon3:c.G168A:p.T56T,BIN1:NM_139350:exon3:c.G168A:p.T56T,BIN1:NM_139351:exon3:c.G168A:p.T56T",NA,NA,NA,NA,NA,NA
chr2,209113112,209113112,C,T,P299664_S,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,234237198,234237198,C,T,P299664_S,SAG,Missense_Mutation,NM_000541,exon8,c.C587T,p.A196V,SNP,SNVindel,exonic,SAG,NA,nonsynonymous SNV,SAG:NM_000541:exon8:c.C587T:p.A196V,T,D,D,T,N,T
chr3,48810448,48810448,C,T,P299664_S,PRKAR2A,Missense_Mutation,NM_001321989,exon5,c.G552A,p.M184I,SNP,SNVindel,exonic,PRKAR2A,NA,nonsynonymous SNV,"PRKAR2A:NM_001321989:exon5:c.G552A:p.M184I,PRKAR2A:NM_001321982:exon6:c.G636A:p.M212I,PRKAR2A:NM_001321983:exon6:c.G636A:p.M212I,PRKAR2A:NM_004157:exon6:c.G636A:p.M212I",D,D,D,D,D,D
chr3,97753831,97753831,T,C,P299664_S,GABRR3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,GABRR3,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr3,146246559,146246559,C,T,P299664_S,PLSCR1,Missense_Mutation,NM_001363872,exon3,c.G133A,p.G45S,SNP,SNVindel,exonic,PLSCR1,NA,nonsynonymous SNV,"PLSCR1:NM_001363872:exon3:c.G133A:p.G45S,PLSCR1:NM_021105:exon4:c.G154A:p.G52S",T,.,N,T,N,T
chr4,1993286,1993286,C,T,P299664_S,NELFA,Missense_Mutation,NM_005663,exon2,c.G367A,p.E123K,SNP,SNVindel,exonic,NELFA,NA,nonsynonymous SNV,NELFA:NM_005663:exon2:c.G367A:p.E123K,D,N,D,T,D,T
chr4,86898759,86898759,C,T,P299664_S,ARHGAP24,Silent,NM_001346093,exon5,c.C264T,p.N88N,SNP,SNVindel,exonic,ARHGAP24,NA,synonymous SNV,"ARHGAP24:NM_001346093:exon5:c.C264T:p.N88N,ARHGAP24:NM_031305:exon5:c.C564T:p.N188N,ARHGAP24:NM_001042669:exon6:c.C558T:p.N186N,ARHGAP24:NM_001287805:exon6:c.C588T:p.N196N,ARHGAP24:NM_001025616:exon8:c.C843T:p.N281N",NA,NA,NA,NA,NA,NA
chr5,23527335,23527335,C,G,P299664_S,PRDM9,Missense_Mutation,NM_001310214,exon11,c.C2138G,p.T713R,SNP,SNVindel,exonic,PRDM9,NA,nonsynonymous SNV,"PRDM9:NM_001310214:exon11:c.C2138G:p.T713R,PRDM9:NM_020227:exon11:c.C2138G:p.T713R",D,N,N,T,D,T
chr5,140202724,140202724,C,T,P299664_S,PCDHA5,Missense_Mutation,NM_018908,exon1,c.C1364T,p.A455V,SNP,SNVindel,exonic,PCDHA5,NA,nonsynonymous SNV,"PCDHA5:NM_018908:exon1:c.C1364T:p.A455V,PCDHA5:NM_031501:exon1:c.C1364T:p.A455V",D,.,N,T,D,T
chr5,140568538,140568538,A,G,P299664_S,PCDHB9,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PCDHB9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr6,51929762,51929762,G,T,P299664_S,PKHD1,Missense_Mutation,NM_138694,exon13,c.C967A,p.P323T,SNP,SNVindel,exonic,PKHD1,NA,nonsynonymous SNV,"PKHD1:NM_138694:exon13:c.C967A:p.P323T,PKHD1:NM_170724:exon13:c.C967A:p.P323T",T,D,D,D,D,T
chr7,37936603,37936603,G,A,P299664_S,NME8,Missense_Mutation,NM_016616,exon17,c.G1676A,p.S559N,SNP,SNVindel,exonic,NME8,NA,nonsynonymous SNV,NME8:NM_016616:exon17:c.G1676A:p.S559N,T,N,N,T,N,T
chr7,43594379,43594379,T,C,P299664_S,HECW1,Missense_Mutation,NM_001287059,exon27,c.T4597C,p.S1533P,SNP,SNVindel,exonic,HECW1,NA,nonsynonymous SNV,"HECW1:NM_001287059:exon27:c.T4597C:p.S1533P,HECW1:NM_015052:exon29:c.T4699C:p.S1567P",D,D,D,T,D,T
chr7,100373020,100373020,G,T,P299664_S,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,123594520,123594520,C,T,P299664_S,SPAM1,Missense_Mutation,NM_001174044,exon3,c.C896T,p.P299L,SNP,SNVindel,exonic,SPAM1,NA,nonsynonymous SNV,"SPAM1:NM_001174044:exon3:c.C896T:p.P299L,SPAM1:NM_001174046:exon3:c.C896T:p.P299L,SPAM1:NM_003117:exon3:c.C896T:p.P299L,SPAM1:NM_153189:exon3:c.C896T:p.P299L,SPAM1:NM_001174045:exon4:c.C896T:p.P299L",D,D,D,T,D,T
chr7,150703567,150703567,G,A,P299664_S,NOS3,Missense_Mutation,NM_000603,exon15,c.G1805A,p.R602Q,SNP,SNVindel,exonic,NOS3,NA,nonsynonymous SNV,NOS3:NM_000603:exon15:c.G1805A:p.R602Q,T,N,D,T,N,T
chr8,21833993,21833993,G,A,P299664_S,XPO7,Missense_Mutation,NM_001362802,exon6,c.G658A,p.D220N,SNP,SNVindel,exonic,XPO7,NA,nonsynonymous SNV,"XPO7:NM_001362802:exon6:c.G658A:p.D220N,XPO7:NM_001100161:exon7:c.G751A:p.D251N,XPO7:NM_015024:exon7:c.G724A:p.D242N",D,D,D,T,D,D
chr8,42586889,42586889,G,A,P299664_S,CHRNB3,Missense_Mutation,NM_000749,exon5,c.G439A,p.A147T,SNP,SNVindel,exonic,CHRNB3,NA,nonsynonymous SNV,"CHRNB3:NM_000749:exon5:c.G439A:p.A147T,CHRNB3:NM_001347717:exon6:c.G217A:p.A73T",D,D,D,T,D,D
chr9,33541216,33541216,G,C,P299664_S,ANKRD18B,Missense_Mutation,NM_001353432,exon7,c.G880C,p.G294R,SNP,SNVindel,exonic,ANKRD18B,NA,nonsynonymous SNV,ANKRD18B:NM_001353432:exon7:c.G880C:p.G294R,T,.,.,T,N,T
chr9,107361315,107361315,C,A,P299664_S,OR13C5,Missense_Mutation,NM_001004482,exon1,c.G380T,p.C127F,SNP,SNVindel,exonic,OR13C5,NA,nonsynonymous SNV,OR13C5:NM_001004482:exon1:c.G380T:p.C127F,D,U,D,T,D,T
chr9,107367529,107367529,C,A,P299664_S,OR13C2,Missense_Mutation,NM_001004481,exon1,c.G380T,p.C127F,SNP,SNVindel,exonic,OR13C2,NA,nonsynonymous SNV,OR13C2:NM_001004481:exon1:c.G380T:p.C127F,D,U,D,T,D,T
chr10,50534529,50534529,G,A,P299664_S,C10orf71,Silent,NM_001135196,exon3,c.G3939A,p.P1313P,SNP,SNVindel,exonic,C10orf71,NA,synonymous SNV,C10orf71:NM_001135196:exon3:c.G3939A:p.P1313P,NA,NA,NA,NA,NA,NA
chr11,59599212,59599212,C,T,P299664_S,CBLIF,Silent,NM_005142,exon8,c.G1131A,p.A377A,SNP,SNVindel,exonic,CBLIF,NA,synonymous SNV,CBLIF:NM_005142:exon8:c.G1131A:p.A377A,NA,NA,NA,NA,NA,NA
chr11,73073566,73073566,G,C,P299664_S,ARHGEF17,Missense_Mutation,NM_014786,exon14,c.G4783C,p.E1595Q,SNP,SNVindel,exonic,ARHGEF17,NA,nonsynonymous SNV,ARHGEF17:NM_014786:exon14:c.G4783C:p.E1595Q,T,N,D,T,N,T
chr11,129306826,129306826,C,T,P299664_S,BARX2,Missense_Mutation,NM_003658,exon2,c.C368T,p.T123M,SNP,SNVindel,exonic,BARX2,NA,nonsynonymous SNV,BARX2:NM_003658:exon2:c.C368T:p.T123M,D,D,D,D,N,D
chr12,11420841,11420841,T,C,P299664_S,PRB3,Silent,NM_006249,exon3,c.A342G,p.P114P,SNP,SNVindel,exonic,PRB3,NA,synonymous SNV,PRB3:NM_006249:exon3:c.A342G:p.P114P,NA,NA,NA,NA,NA,NA
chr12,11546006,11546006,G,A,P299664_S,PRB1,Missense_Mutation,NM_006248,exon3,c.C1006T,p.P336S,SNP,SNVindel,exonic,PRB1;PRB2,NA,nonsynonymous SNV,PRB2:NM_006248:exon3:c.C1006T:p.P336S,.,.,N,T,N,T
chr12,11546677,11546677,C,T,P299664_S,PRB1,Missense_Mutation,NM_001367912,exon3,c.G335A,p.R112Q,SNP,SNVindel,exonic,PRB1;PRB2,NA,nonsynonymous SNV,"PRB1:NM_001367912:exon3:c.G335A:p.R112Q,PRB2:NM_006248:exon3:c.G335A:p.R112Q",.,.,N,T,N,T
chr12,25267659,25267659,T,C,P299664_S,CASC1,Silent,NM_001352067,exon8,c.A1029G,p.R343R,SNP,SNVindel,exonic,CASC1,NA,synonymous SNV,"CASC1:NM_001352067:exon8:c.A1029G:p.R343R,CASC1:NM_001352068:exon9:c.A1086G:p.R362R,CASC1:NM_001204101:exon10:c.A1347G:p.R449R,CASC1:NM_001352064:exon10:c.A1206G:p.R402R,CASC1:NM_001319977:exon11:c.A1188G:p.R396R,CASC1:NM_001352061:exon11:c.A1404G:p.R468R,CASC1:NM_001352063:exon11:c.A1224G:p.R408R,CASC1:NM_001352065:exon11:c.A1188G:p.R396R,CASC1:NM_001352066:exon11:c.A1086G:p.R362R,CASC1:NM_001082973:exon12:c.A1524G:p.R508R,CASC1:NM_001319978:exon12:c.A1404G:p.R468R,CASC1:NM_001352062:exon12:c.A1524G:p.R508R,CASC1:NM_001082972:exon13:c.A1716G:p.R572R,CASC1:NM_018272:exon13:c.A1542G:p.R514R,CASC1:NM_001204102:exon14:c.A1404G:p.R468R",NA,NA,NA,NA,NA,NA
chr12,46245723,46245723,C,T,P299664_S,ARID2,Nonsense_Mutation,NM_001347839,exon15,c.C3817T,p.R1273X,SNP,SNVindel,exonic,ARID2,NA,stopgain,"ARID2:NM_001347839:exon15:c.C3817T:p.R1273X,ARID2:NM_152641:exon15:c.C3817T:p.R1273X",.,D,A,.,.,.
chr12,122359408,122359408,G,A,P299664_S,WDR66,Missense_Mutation,NM_001178003,exon2,c.G197A,p.G66E,SNP,SNVindel,exonic,WDR66,NA,nonsynonymous SNV,"WDR66:NM_001178003:exon2:c.G197A:p.G66E,WDR66:NM_144668:exon2:c.G197A:p.G66E",T,.,P,T,N,T
chr15,22074697,22074697,G,C,P299664_S,POTEB,Silent,NM_001277303,exon4,c.C705G,p.G235G,SNP,SNVindel,exonic,POTEB;POTEB2;POTEB3,NA,synonymous SNV,"POTEB2:NM_001277303:exon4:c.C705G:p.G235G,POTEB:NM_001277304:exon4:c.C705G:p.G235G,POTEB3:NM_207355:exon5:c.C705G:p.G235G",NA,NA,NA,NA,NA,NA
chr15,44964235,44964235,C,T,P299664_S,PATL2,Missense_Mutation,NM_001330283,exon6,c.G68A,p.R23H,SNP,SNVindel,exonic,PATL2,NA,nonsynonymous SNV,"PATL2:NM_001330283:exon6:c.G68A:p.R23H,PATL2:NM_001145112:exon7:c.G635A:p.R212H",T,.,N,T,N,T
chr16,97530,97530,C,A,P299664_S,POLR3K,Missense_Mutation,NM_016310,exon3,c.G227T,p.R76L,SNP,SNVindel,exonic,POLR3K,NA,nonsynonymous SNV,POLR3K:NM_016310:exon3:c.G227T:p.R76L,D,D,D,T,D,T
chr16,2328391,2328391,T,C,P299664_S,ABCA3,Missense_Mutation,NM_001089,exon30,c.A4616G,p.D1539G,SNP,SNVindel,exonic,ABCA3,NA,nonsynonymous SNV,ABCA3:NM_001089:exon30:c.A4616G:p.D1539G,D,D,D,D,D,D
chr16,66437039,66437039,C,T,P299664_S,CDH5,Silent,NM_001795,exon12,c.C2322T,p.Y774Y,SNP,SNVindel,exonic,CDH5,NA,synonymous SNV,CDH5:NM_001795:exon12:c.C2322T:p.Y774Y,NA,NA,NA,NA,NA,NA
chr17,7577106,7577106,G,A,P299664_S,TP53,Missense_Mutation,NM_001126115,exon4,c.C436T,p.P146S,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon4:c.C436T:p.P146S,TP53:NM_001126116:exon4:c.C436T:p.P146S,TP53:NM_001126117:exon4:c.C436T:p.P146S,TP53:NM_001276697:exon4:c.C355T:p.P119S,TP53:NM_001276698:exon4:c.C355T:p.P119S,TP53:NM_001276699:exon4:c.C355T:p.P119S,TP53:NM_001126118:exon7:c.C715T:p.P239S,TP53:NM_000546:exon8:c.C832T:p.P278S,TP53:NM_001126112:exon8:c.C832T:p.P278S,TP53:NM_001126113:exon8:c.C832T:p.P278S,TP53:NM_001126114:exon8:c.C832T:p.P278S,TP53:NM_001276695:exon8:c.C715T:p.P239S,TP53:NM_001276696:exon8:c.C715T:p.P239S,TP53:NM_001276760:exon8:c.C715T:p.P239S,TP53:NM_001276761:exon8:c.C715T:p.P239S",D,D,D,D,D,D
chr17,60749093,60749093,C,T,P299664_S,MRC2,Missense_Mutation,NM_006039,exon7,c.C1201T,p.R401C,SNP,SNVindel,exonic,MRC2,NA,nonsynonymous SNV,MRC2:NM_006039:exon7:c.C1201T:p.R401C,D,N,D,T,D,T
chr17,66511642,66511642,T,C,P299664_S,PRKAR1A,Silent,NM_001276290,exon1,c.T102C,p.S34S,SNP,SNVindel,exonic,PRKAR1A,NA,synonymous SNV,"PRKAR1A:NM_001276290:exon1:c.T102C:p.S34S,PRKAR1A:NM_001278433:exon2:c.T102C:p.S34S,PRKAR1A:NM_001369390:exon2:c.T102C:p.S34S,PRKAR1A:NM_002734:exon2:c.T102C:p.S34S,PRKAR1A:NM_212471:exon2:c.T102C:p.S34S,PRKAR1A:NM_212472:exon2:c.T102C:p.S34S,PRKAR1A:NM_001276289:exon3:c.T102C:p.S34S,PRKAR1A:NM_001369389:exon3:c.T102C:p.S34S",NA,NA,NA,NA,NA,NA
chr17,74392554,74392554,C,G,P299664_S,UBE2O,Missense_Mutation,NM_022066,exon14,c.G2464C,p.E822Q,SNP,SNVindel,exonic,UBE2O,NA,nonsynonymous SNV,UBE2O:NM_022066:exon14:c.G2464C:p.E822Q,D,D,D,T,N,D
chr18,28576910,28576910,T,G,P299664_S,DSC3,Missense_Mutation,NM_001941,exon15,c.A2340C,p.E780D,SNP,SNVindel,exonic,DSC3,NA,nonsynonymous SNV,"DSC3:NM_001941:exon15:c.A2340C:p.E780D,DSC3:NM_024423:exon15:c.A2340C:p.E780D",T,N,D,T,N,T
chr18,56203924,56203924,C,T,P299664_S,ALPK2,Silent,NM_052947,exon5,c.G3495A,p.E1165E,SNP,SNVindel,exonic,ALPK2,NA,synonymous SNV,ALPK2:NM_052947:exon5:c.G3495A:p.E1165E,NA,NA,NA,NA,NA,NA
chr19,2244600,2244600,C,A,P299664_S,SF3A2,Missense_Mutation,NM_007165,exon3,c.C184A,p.L62I,SNP,SNVindel,exonic,SF3A2,NA,nonsynonymous SNV,SF3A2:NM_007165:exon3:c.C184A:p.L62I,T,D,D,T,N,T
chr19,6680224,6680224,A,G,P299664_S,C3,Silent,NM_000064,exon36,c.T4401C,p.F1467F,SNP,SNVindel,exonic,C3,NA,synonymous SNV,C3:NM_000064:exon36:c.T4401C:p.F1467F,NA,NA,NA,NA,NA,NA
chr19,58772865,58772865,A,T,P299664_S,ZNF544,Missense_Mutation,NM_001320770,exon6,c.A809T,p.Y270F,SNP,SNVindel,exonic,ZNF544,NA,nonsynonymous SNV,"ZNF544:NM_001320770:exon6:c.A809T:p.Y270F,ZNF544:NM_001320771:exon6:c.A809T:p.Y270F,ZNF544:NM_001320773:exon6:c.A809T:p.Y270F,ZNF544:NM_001320767:exon7:c.A893T:p.Y298F,ZNF544:NM_001320769:exon7:c.A893T:p.Y298F,ZNF544:NM_014480:exon7:c.A893T:p.Y298F",T,.,N,T,D,T
chr20,61444540,61444540,A,C,P299664_S,OGFR,Missense_Mutation,NM_007346,exon7,c.A1573C,p.S525R,SNP,SNVindel,exonic,OGFR,NA,nonsynonymous SNV,OGFR:NM_007346:exon7:c.A1573C:p.S525R,D,.,N,T,N,T
chr20,61444605,61444605,A,G,P299664_S,OGFR,Silent,NM_007346,exon7,c.A1638G,p.P546P,SNP,SNVindel,exonic,OGFR,NA,synonymous SNV,OGFR:NM_007346:exon7:c.A1638G:p.P546P,NA,NA,NA,NA,NA,NA
chr20,61444845,61444845,G,A,P299664_S,OGFR,Silent,NM_007346,exon7,c.G1878A,p.P626P,SNP,SNVindel,exonic,OGFR,NA,synonymous SNV,OGFR:NM_007346:exon7:c.G1878A:p.P626P,NA,NA,NA,NA,NA,NA
chrX,76813055,76813055,A,G,P299664_S,ATRX,Missense_Mutation,NM_138270,exon29,c.T6452C,p.V2151A,SNP,SNVindel,exonic,ATRX,NA,nonsynonymous SNV,"ATRX:NM_138270:exon29:c.T6452C:p.V2151A,ATRX:NM_000489:exon30:c.T6566C:p.V2189A",D,D,D,D,D,D
chrX,107977338,107977338,A,G,P299664_S,IRS4,Missense_Mutation,NM_003604,exon1,c.T2237C,p.M746T,SNP,SNVindel,exonic,IRS4,NA,nonsynonymous SNV,IRS4:NM_003604:exon1:c.T2237C:p.M746T,D,D,D,T,D,T
chr1,16891340,16891340,T,A,P305087_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,16892193,16892193,A,T,P305087_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,16892277,16892277,G,A,P305087_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,22965749,22965749,G,A,P305087_F,C1QA,Missense_Mutation,NM_001347465,exon3,c.G587A,p.G196E,SNP,SNVindel,exonic,C1QA,NA,nonsynonymous SNV,"C1QA:NM_001347465:exon3:c.G587A:p.G196E,C1QA:NM_001347466:exon3:c.G587A:p.G196E,C1QA:NM_015991:exon3:c.G587A:p.G196E",T,N,N,T,N,T
chr1,22973963,22973963,C,T,P305087_F,C1QC,Missense_Mutation,NM_001347620,exon2,c.C158T,p.A53V,SNP,SNVindel,exonic,C1QC,NA,nonsynonymous SNV,"C1QC:NM_001347620:exon2:c.C158T:p.A53V,C1QC:NM_001114101:exon3:c.C425T:p.A142V,C1QC:NM_001347619:exon3:c.C425T:p.A142V,C1QC:NM_172369:exon3:c.C425T:p.A142V",T,N,N,T,N,T
chr1,25124332,25124332,G,A,P305087_F,CLIC4,Missense_Mutation,NM_013943,exon2,c.G172A,p.D58N,SNP,SNVindel,exonic,CLIC4,NA,nonsynonymous SNV,CLIC4:NM_013943:exon2:c.G172A:p.D58N,T,N,D,T,D,T
chr1,27672010,27672010,G,A,P305087_F,SYTL1,Missense_Mutation,NM_001193308,exon2,c.G185A,p.R62Q,SNP,SNVindel,exonic,SYTL1,NA,nonsynonymous SNV,"SYTL1:NM_001193308:exon2:c.G185A:p.R62Q,SYTL1:NM_032872:exon2:c.G185A:p.R62Q",D,N,D,T,N,D
chr1,117487321,117487321,G,A,P305087_F,PTGFRN,Missense_Mutation,NM_020440,exon3,c.G439A,p.V147M,SNP,SNVindel,exonic,PTGFRN,NA,nonsynonymous SNV,PTGFRN:NM_020440:exon3:c.G439A:p.V147M,D,D,N,T,N,T
chr1,158908251,158908251,A,G,P305087_F,PYHIN1,Silent,NM_152501,exon3,c.A330G,p.K110K,SNP,SNVindel,exonic,PYHIN1,NA,synonymous SNV,"PYHIN1:NM_152501:exon3:c.A330G:p.K110K,PYHIN1:NM_198928:exon3:c.A303G:p.K101K,PYHIN1:NM_198929:exon3:c.A330G:p.K110K,PYHIN1:NM_198930:exon3:c.A303G:p.K101K",NA,NA,NA,NA,NA,NA
chr1,172001576,172001576,C,A,P305087_F,DNM3,Missense_Mutation,NM_001136127,exon5,c.C624A,p.D208E,SNP,SNVindel,exonic,DNM3,NA,nonsynonymous SNV,"DNM3:NM_001136127:exon5:c.C624A:p.D208E,DNM3:NM_001278252:exon5:c.C624A:p.D208E,DNM3:NM_001350204:exon5:c.C624A:p.D208E,DNM3:NM_001350205:exon5:c.C624A:p.D208E,DNM3:NM_001350206:exon5:c.C624A:p.D208E,DNM3:NM_015569:exon5:c.C624A:p.D208E",D,D,D,D,D,D
chr1,185931785,185931785,C,T,P305087_F,HMCN1,Missense_Mutation,NM_031935,exon12,c.C1964T,p.S655L,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon12:c.C1964T:p.S655L,T,D,D,T,D,T
chr2,106690371,106690371,G,A,P305087_F,ECRG4,Missense_Mutation,NM_032411,exon3,c.G157A,p.V53I,SNP,SNVindel,exonic,ECRG4,NA,nonsynonymous SNV,ECRG4:NM_032411:exon3:c.G157A:p.V53I,T,N,N,T,N,T
chr2,162696414,162696414,C,T,P305087_F,SLC4A10,Silent,NM_001354453,exon3,c.C246T,p.D82D,SNP,SNVindel,exonic,SLC4A10,NA,synonymous SNV,"SLC4A10:NM_001354453:exon3:c.C246T:p.D82D,SLC4A10:NM_001178015:exon4:c.C393T:p.D131D,SLC4A10:NM_001354440:exon4:c.C393T:p.D131D,SLC4A10:NM_001354444:exon4:c.C393T:p.D131D,SLC4A10:NM_001354446:exon4:c.C393T:p.D131D,SLC4A10:NM_001354449:exon4:c.C393T:p.D131D,SLC4A10:NM_001354450:exon4:c.C393T:p.D131D,SLC4A10:NM_001354451:exon4:c.C393T:p.D131D,SLC4A10:NM_022058:exon4:c.C393T:p.D131D,SLC4A10:NM_001178016:exon5:c.C426T:p.D142D,SLC4A10:NM_001354441:exon5:c.C426T:p.D142D,SLC4A10:NM_001354442:exon5:c.C426T:p.D142D,SLC4A10:NM_001354443:exon5:c.C429T:p.D143D,SLC4A10:NM_001354445:exon5:c.C426T:p.D142D,SLC4A10:NM_001354448:exon5:c.C426T:p.D142D,SLC4A10:NM_001354460:exon5:c.C429T:p.D143D,SLC4A10:NM_001354447:exon6:c.C429T:p.D143D,SLC4A10:NM_001354461:exon6:c.C429T:p.D143D",NA,NA,NA,NA,NA,NA
chr2,201478598,201478598,C,T,P305087_F,AOX1,Missense_Mutation,NM_001159,exon15,c.C1520T,p.A507V,SNP,SNVindel,exonic,AOX1,NA,nonsynonymous SNV,AOX1:NM_001159:exon15:c.C1520T:p.A507V,T,D,D,T,D,T
chr2,211540487,211540487,C,T,P305087_F,CPS1,Silent,NM_001875,exon36,c.C4197T,p.N1399N,SNP,SNVindel,exonic,CPS1,NA,synonymous SNV,"CPS1:NM_001875:exon36:c.C4197T:p.N1399N,CPS1:NM_001122633:exon37:c.C4197T:p.N1399N,CPS1:NM_001369256:exon37:c.C4230T:p.N1410N,CPS1:NM_001369257:exon38:c.C4197T:p.N1399N",NA,NA,NA,NA,NA,NA
chr3,4687110,4687110,C,G,P305087_F,ITPR1,Missense_Mutation,NM_001099952,exon9,c.C664G,p.L222V,SNP,SNVindel,exonic,ITPR1,NA,nonsynonymous SNV,"ITPR1:NM_001099952:exon9:c.C664G:p.L222V,ITPR1:NM_001168272:exon9:c.C664G:p.L222V,ITPR1:NM_002222:exon9:c.C664G:p.L222V",T,D,D,D,N,D
chr3,97868559,97868559,G,T,P305087_F,OR5H14,Silent,NM_001005514,exon1,c.G330T,p.T110T,SNP,SNVindel,exonic,OR5H14,NA,synonymous SNV,OR5H14:NM_001005514:exon1:c.G330T:p.T110T,NA,NA,NA,NA,NA,NA
chr3,108690192,108690192,A,G,P305087_F,MORC1,Silent,NM_014429,exon25,c.T2535C,p.P845P,SNP,SNVindel,exonic,MORC1,NA,synonymous SNV,MORC1:NM_014429:exon25:c.T2535C:p.P845P,NA,NA,NA,NA,NA,NA
chr3,150460147,150460147,A,G,P305087_F,SIAH2,Silent,NM_005067,exon2,c.T756C,p.I252I,SNP,SNVindel,exonic,SIAH2,NA,synonymous SNV,SIAH2:NM_005067:exon2:c.T756C:p.I252I,NA,NA,NA,NA,NA,NA
chr4,8229531,8229531,G,A,P305087_F,SH3TC1,Missense_Mutation,NM_001318480,exon12,c.G1882A,p.A628T,SNP,SNVindel,exonic,SH3TC1,NA,nonsynonymous SNV,"SH3TC1:NM_001318480:exon12:c.G1882A:p.A628T,SH3TC1:NM_018986:exon12:c.G2110A:p.A704T",T,N,N,T,N,T
chr4,88732910,88732910,G,A,P305087_F,IBSP,Missense_Mutation,NM_004967,exon7,c.G802A,p.A268T,SNP,SNVindel,exonic,IBSP,NA,nonsynonymous SNV,IBSP:NM_004967:exon7:c.G802A:p.A268T,T,N,N,T,N,T
chr4,175710035,175710035,G,A,P305087_F,GLRA3,Missense_Mutation,NM_001042543,exon2,c.C131T,p.S44F,SNP,SNVindel,exonic,GLRA3,NA,nonsynonymous SNV,"GLRA3:NM_001042543:exon2:c.C131T:p.S44F,GLRA3:NM_006529:exon2:c.C131T:p.S44F",D,D,D,T,D,D
chr5,33461842,33461842,G,C,P305087_F,TARS,Missense_Mutation,NM_152295,exon14,c.G1622C,p.G541A,SNP,SNVindel,exonic,TARS,NA,nonsynonymous SNV,"TARS:NM_152295:exon14:c.G1622C:p.G541A,TARS:NM_001258437:exon15:c.G1622C:p.G541A,TARS:NM_001258438:exon15:c.G1721C:p.G574A",D,D,D,T,D,D
chr5,79284062,79284062,G,A,P305087_F,MTX3,Missense_Mutation,NM_001167741,exon5,c.C398T,p.T133M,SNP,SNVindel,exonic,MTX3,NA,nonsynonymous SNV,"MTX3:NM_001167741:exon5:c.C398T:p.T133M,MTX3:NM_001010891:exon6:c.C581T:p.T194M,MTX3:NM_001363818:exon6:c.C581T:p.T194M",T,.,D,T,N,T
chr5,127674749,127674749,G,A,P305087_F,FBN2,Silent,NM_001999,exon26,c.C3348T,p.I1116I,SNP,SNVindel,exonic,FBN2,NA,synonymous SNV,FBN2:NM_001999:exon26:c.C3348T:p.I1116I,NA,NA,NA,NA,NA,NA
chr5,140741567,140741567,G,A,P305087_F,PCDHGB2,Missense_Mutation,NM_018923,exon1,c.G1865A,p.R622H,SNP,SNVindel,exonic,PCDHGB2,NA,nonsynonymous SNV,"PCDHGB2:NM_018923:exon1:c.G1865A:p.R622H,PCDHGB2:NM_032096:exon1:c.G1865A:p.R622H",T,.,D,T,N,T
chr5,150946696,150946696,G,A,P305087_F,FAT2,Silent,NM_001447,exon1,c.C1797T,p.Y599Y,SNP,SNVindel,exonic,FAT2,NA,synonymous SNV,FAT2:NM_001447:exon1:c.C1797T:p.Y599Y,NA,NA,NA,NA,NA,NA
chr6,10796399,10796399,C,T,P305087_F,MAK,Silent,NM_001242957,exon8,c.G975A,p.P325P,SNP,SNVindel,exonic,MAK,NA,synonymous SNV,"MAK:NM_001242957:exon8:c.G975A:p.P325P,MAK:NM_005906:exon8:c.G975A:p.P325P,MAK:NM_001242385:exon9:c.G975A:p.P325P",NA,NA,NA,NA,NA,NA
chr6,45405722,45405722,C,A,P305087_F,RUNX2,Missense_Mutation,NM_001278478,exon3,c.C577A,p.P193T,SNP,SNVindel,exonic,RUNX2,NA,nonsynonymous SNV,"RUNX2:NM_001278478:exon3:c.C577A:p.P193T,RUNX2:NM_001369405:exon3:c.C577A:p.P193T,RUNX2:NM_001015051:exon5:c.C619A:p.P207T,RUNX2:NM_001024630:exon5:c.C619A:p.P207T",D,D,D,D,D,D
chr6,66204807,66204807,T,A,P305087_F,EYS,Missense_Mutation,NM_198283,exon3,c.A497T,p.N166I,SNP,SNVindel,exonic,EYS,NA,nonsynonymous SNV,"EYS:NM_198283:exon3:c.A497T:p.N166I,EYS:NM_001142800:exon4:c.A497T:p.N166I,EYS:NM_001142801:exon4:c.A497T:p.N166I,EYS:NM_001292009:exon4:c.A497T:p.N166I",D,.,N,D,N,T
chr7,21892229,21892229,G,A,P305087_F,DNAH11,Missense_Mutation,NM_001277115,exon67,c.G11041A,p.V3681M,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon67:c.G11041A:p.V3681M,D,D,N,T,N,T
chr7,45148666,45148666,C,T,P305087_F,TBRG4,Silent,NM_001261834,exon2,c.G204A,p.P68P,SNP,SNVindel,exonic,TBRG4,NA,synonymous SNV,"TBRG4:NM_001261834:exon2:c.G204A:p.P68P,TBRG4:NM_004749:exon2:c.G171A:p.P57P,TBRG4:NM_030900:exon2:c.G171A:p.P57P,TBRG4:NM_199122:exon2:c.G171A:p.P57P",NA,NA,NA,NA,NA,NA
chr7,47408854,47408854,G,A,P305087_F,TNS3,Silent,NM_022748,exon17,c.C1389T,p.H463H,SNP,SNVindel,exonic,TNS3,NA,synonymous SNV,TNS3:NM_022748:exon17:c.C1389T:p.H463H,NA,NA,NA,NA,NA,NA
chr7,50560650,50560650,G,A,P305087_F,DDC,Missense_Mutation,NM_001242890,exon10,c.C998T,p.A333V,SNP,SNVindel,exonic,DDC,NA,nonsynonymous SNV,DDC:NM_001242890:exon10:c.C998T:p.A333V,D,.,N,T,N,T
chr7,70255361,70255361,C,T,P305087_F,AUTS2,Silent,NM_001127231,exon18,c.C3087T,p.S1029S,SNP,SNVindel,exonic,AUTS2,NA,synonymous SNV,"AUTS2:NM_001127231:exon18:c.C3087T:p.S1029S,AUTS2:NM_015570:exon19:c.C3159T:p.S1053S",NA,NA,NA,NA,NA,NA
chr7,142611838,142611838,C,T,P305087_F,TRPV5,Missense_Mutation,NM_019841,exon12,c.G1491A,p.M497I,SNP,SNVindel,exonic,TRPV5,NA,nonsynonymous SNV,TRPV5:NM_019841:exon12:c.G1491A:p.M497I,T,D,D,D,N,D
chr7,143807568,143807568,G,A,P305087_F,OR2A2,Missense_Mutation,NM_001005480,exon1,c.G893A,p.G298D,SNP,SNVindel,exonic,OR2A2,NA,nonsynonymous SNV,OR2A2:NM_001005480:exon1:c.G893A:p.G298D,D,U,N,T,D,T
chr8,110445410,110445410,T,C,P305087_F,PKHD1L1,Missense_Mutation,NM_177531,exon28,c.T3305C,p.V1102A,SNP,SNVindel,exonic,PKHD1L1,NA,nonsynonymous SNV,PKHD1L1:NM_177531:exon28:c.T3305C:p.V1102A,D,N,N,T,D,T
chr8,121061906,121061906,C,T,P305087_F,DEPTOR,Missense_Mutation,NM_001283012,exon7,c.C890T,p.T297M,SNP,SNVindel,exonic,DEPTOR,NA,nonsynonymous SNV,"DEPTOR:NM_001283012:exon7:c.C890T:p.T297M,DEPTOR:NM_022783:exon9:c.C1193T:p.T398M",D,D,D,T,N,T
chr8,144378950,144378950,C,T,P305087_F,ZNF696,Missense_Mutation,NM_030895,exon3,c.C1105T,p.R369W,SNP,SNVindel,exonic,ZNF696,NA,nonsynonymous SNV,ZNF696:NM_030895:exon3:c.C1105T:p.R369W,D,.,N,T,D,T
chr9,34729356,34729356,G,A,P305087_F,FAM205A,Silent,NM_001141917,exon1,c.C69T,p.I23I,SNP,SNVindel,exonic,FAM205A,NA,synonymous SNV,FAM205A:NM_001141917:exon1:c.C69T:p.I23I,NA,NA,NA,NA,NA,NA
chr9,112704997,112704997,A,G,P305087_F,PALM2-AKAP2,Silent,NM_001037293,exon7,c.A432G,p.K144K,SNP,SNVindel,exonic,PALM2-AKAP2,NA,synonymous SNV,"PALM2-AKAP2:NM_001037293:exon7:c.A432G:p.K144K,PALM2-AKAP2:NM_053016:exon7:c.A528G:p.K176K",NA,NA,NA,NA,NA,NA
chr9,135418406,135418406,C,T,P305087_F,CFAP77,Missense_Mutation,NM_001282957,exon5,c.C704T,p.T235I,SNP,SNVindel,exonic,CFAP77,NA,nonsynonymous SNV,"CFAP77:NM_001282957:exon5:c.C704T:p.T235I,CFAP77:NM_207417:exon6:c.C812T:p.T271I",D,N,N,T,N,T
chr10,101636962,101636962,G,A,P305087_F,DNMBP,Silent,NM_001318326,exon14,c.C3576T,p.N1192N,SNP,SNVindel,exonic,DNMBP,NA,synonymous SNV,"DNMBP:NM_001318326:exon14:c.C3576T:p.N1192N,DNMBP:NM_001318327:exon14:c.C2544T:p.N848N,DNMBP:NM_015221:exon17:c.C4680T:p.N1560N",NA,NA,NA,NA,NA,NA
chr11,6129554,6129554,C,T,P305087_F,OR56B4,Silent,NM_001005181,exon1,c.C546T,p.H182H,SNP,SNVindel,exonic,OR56B4,NA,synonymous SNV,OR56B4:NM_001005181:exon1:c.C546T:p.H182H,NA,NA,NA,NA,NA,NA
chr11,69588117,69588117,G,A,P305087_F,FGF4,Missense_Mutation,NM_002007,exon3,c.C581T,p.S194L,SNP,SNVindel,exonic,FGF4,NA,nonsynonymous SNV,FGF4:NM_002007:exon3:c.C581T:p.S194L,D,D,D,D,D,D
chr11,124180139,124180139,T,C,P305087_F,OR8D1,Missense_Mutation,NM_001002917,exon1,c.A524G,p.N175S,SNP,SNVindel,exonic,OR8D1,NA,nonsynonymous SNV,OR8D1:NM_001002917:exon1:c.A524G:p.N175S,T,N,N,T,N,T
chr11,129993594,129993594,G,A,P305087_F,APLP2,Missense_Mutation,NM_001142276,exon7,c.G1010A,p.R337H,SNP,SNVindel,exonic,APLP2,NA,nonsynonymous SNV,"APLP2:NM_001142276:exon7:c.G1010A:p.R337H,APLP2:NM_001243299:exon7:c.G1040A:p.R347H,APLP2:NM_001328684:exon7:c.G1010A:p.R337H,APLP2:NM_001328686:exon7:c.G911A:p.R304H,APLP2:NM_001642:exon7:c.G1010A:p.R337H",T,N,D,T,N,T
chr12,7303142,7303142,G,A,P305087_F,CLSTN3,Missense_Mutation,NM_014718,exon15,c.G2248A,p.V750M,SNP,SNVindel,exonic,CLSTN3,NA,nonsynonymous SNV,CLSTN3:NM_014718:exon15:c.G2248A:p.V750M,D,D,D,T,N,T
chr12,51675283,51675283,T,C,P305087_F,BIN2,Nonstop_Mutation,NM_001364781,exon11,c.A1536G,p.X512W,SNP,SNVindel,exonic,BIN2,NA,stoploss,"BIN2:NM_001364781:exon11:c.A1536G:p.X512W,BIN2:NM_001290008:exon12:c.A1602G:p.X534W,BIN2:NM_001290009:exon12:c.A1326G:p.X442W,BIN2:NM_001364780:exon12:c.A1617G:p.X539W,BIN2:NM_001290007:exon13:c.A1620G:p.X540W,BIN2:NM_001364779:exon13:c.A1695G:p.X565W,BIN2:NM_016293:exon13:c.A1698G:p.X566W",.,.,N,.,.,.
chr12,72956647,72956647,T,A,P305087_F,TRHDE,Missense_Mutation,NM_013381,exon9,c.T1734A,p.N578K,SNP,SNVindel,exonic,TRHDE,NA,nonsynonymous SNV,TRHDE:NM_013381:exon9:c.T1734A:p.N578K,T,D,D,T,N,T
chr12,100200345,100200345,G,C,P305087_F,ANKS1B,Missense_Mutation,NM_001352185,exon4,c.C506G,p.A169G,SNP,SNVindel,exonic,ANKS1B,NA,nonsynonymous SNV,"ANKS1B:NM_001352185:exon4:c.C506G:p.A169G,ANKS1B:NM_001352186:exon4:c.C506G:p.A169G,ANKS1B:NM_001352187:exon4:c.C506G:p.A169G,ANKS1B:NM_001352188:exon4:c.C506G:p.A169G,ANKS1B:NM_152788:exon4:c.C506G:p.A169G",D,D,D,T,N,D
chr13,98666453,98666453,G,A,P305087_F,IPO5,Missense_Mutation,NM_002271,exon22,c.G2310A,p.M770I,SNP,SNVindel,exonic,IPO5,NA,nonsynonymous SNV,IPO5:NM_002271:exon22:c.G2310A:p.M770I,T,D,D,T,N,T
chr14,74874249,74874249,C,T,P305087_F,SYNDIG1L,Missense_Mutation,NM_001105579,exon4,c.G706A,p.G236S,SNP,SNVindel,exonic,SYNDIG1L,NA,nonsynonymous SNV,SYNDIG1L:NM_001105579:exon4:c.G706A:p.G236S,T,N,D,D,N,D
chr14,105644054,105644054,A,G,P305087_F,NUDT14,Missense_Mutation,NM_001318380,exon2,c.T100C,p.W34R,SNP,SNVindel,exonic,NUDT14,NA,nonsynonymous SNV,"NUDT14:NM_001318380:exon2:c.T100C:p.W34R,NUDT14:NM_177533:exon2:c.T100C:p.W34R",D,D,D,T,D,T
chr15,31329941,31329941,C,T,P305087_F,TRPM1,Silent,NM_001252020,exon19,c.G2595A,p.A865A,SNP,SNVindel,exonic,TRPM1,NA,synonymous SNV,"TRPM1:NM_001252020:exon19:c.G2595A:p.A865A,TRPM1:NM_002420:exon19:c.G2478A:p.A826A,TRPM1:NM_001252024:exon20:c.G2544A:p.A848A",NA,NA,NA,NA,NA,NA
chr15,65793095,65793095,T,G,P305087_F,DPP8,Missense_Mutation,NM_001320876,exon4,c.A395C,p.Y132S,SNP,SNVindel,exonic,DPP8,NA,nonsynonymous SNV,"DPP8:NM_001320876:exon4:c.A395C:p.Y132S,DPP8:NM_017743:exon4:c.A395C:p.Y132S,DPP8:NM_130434:exon4:c.A395C:p.Y132S,DPP8:NM_001320875:exon5:c.A443C:p.Y148S,DPP8:NM_197960:exon5:c.A443C:p.Y148S,DPP8:NM_197961:exon5:c.A443C:p.Y148S",D,D,D,T,D,T
chr16,2522188,2522188,T,A,P305087_F,NTN3,Silent,NM_006181,exon1,c.T486A,p.P162P,SNP,SNVindel,exonic,NTN3,NA,synonymous SNV,NTN3:NM_006181:exon1:c.T486A:p.P162P,NA,NA,NA,NA,NA,NA
chr16,11647412,11647412,G,A,P305087_F,LITAF,Silent,NM_001136472,exon3,c.C354T,p.S118S,SNP,SNVindel,exonic,LITAF,NA,synonymous SNV,"LITAF:NM_001136472:exon3:c.C354T:p.S118S,LITAF:NM_001136473:exon3:c.C354T:p.S118S,LITAF:NM_004862:exon3:c.C354T:p.S118S",NA,NA,NA,NA,NA,NA
chr16,28845724,28845724,C,T,P305087_F,ATXN2L,Missense_Mutation,NM_001308230,exon17,c.C2251T,p.R751W,SNP,SNVindel,exonic,ATXN2L,NA,nonsynonymous SNV,"ATXN2L:NM_001308230:exon17:c.C2251T:p.R751W,ATXN2L:NM_007245:exon17:c.C2233T:p.R745W,ATXN2L:NM_017492:exon17:c.C2233T:p.R745W,ATXN2L:NM_145714:exon17:c.C2233T:p.R745W,ATXN2L:NM_148414:exon17:c.C2233T:p.R745W,ATXN2L:NM_148415:exon17:c.C2233T:p.R745W,ATXN2L:NM_148416:exon17:c.C2233T:p.R745W",D,N,D,T,N,T
chr16,46766443,46766443,C,T,P305087_F,MYLK3,Missense_Mutation,NM_001308301,exon3,c.G116A,p.R39H,SNP,SNVindel,exonic,MYLK3,NA,nonsynonymous SNV,"MYLK3:NM_001308301:exon3:c.G116A:p.R39H,MYLK3:NM_182493:exon4:c.G1139A:p.R380H",T,.,N,T,N,T
chr16,55705992,55705992,C,T,P305087_F,SLC6A2,Silent,NM_001172502,exon1,c.C234T,p.P78P,SNP,SNVindel,exonic,SLC6A2,NA,synonymous SNV,"SLC6A2:NM_001172502:exon1:c.C234T:p.P78P,SLC6A2:NM_001043:exon3:c.C549T:p.P183P,SLC6A2:NM_001172504:exon3:c.C549T:p.P183P,SLC6A2:NM_001172501:exon4:c.C549T:p.P183P",NA,NA,NA,NA,NA,NA
chr16,68156950,68156950,T,G,P305087_F,NFATC3,Missense_Mutation,NM_004555,exon2,c.T1164G,p.C388W,SNP,SNVindel,exonic,NFATC3,NA,nonsynonymous SNV,"NFATC3:NM_004555:exon2:c.T1164G:p.C388W,NFATC3:NM_173163:exon2:c.T1164G:p.C388W,NFATC3:NM_173165:exon2:c.T1164G:p.C388W",T,N,N,T,N,T
chr17,3336947,3336947,G,A,P305087_F,OR1E2,Silent,NM_003554,exon1,c.C189T,p.L63L,SNP,SNVindel,exonic,OR1E2,NA,synonymous SNV,OR1E2:NM_003554:exon1:c.C189T:p.L63L,NA,NA,NA,NA,NA,NA
chr17,34884027,34884027,C,T,P305087_F,MYO19,Missense_Mutation,NM_001033580,exon5,c.G19A,p.G7S,SNP,SNVindel,exonic,MYO19,NA,nonsynonymous SNV,"MYO19:NM_001033580:exon5:c.G19A:p.G7S,MYO19:NM_001163735:exon5:c.G19A:p.G7S,MYO19:NM_025109:exon5:c.G19A:p.G7S",.,N,D,.,.,T
chr17,39023370,39023370,C,T,P305087_F,KRT12,Silent,NM_000223,exon1,c.G69A,p.S23S,SNP,SNVindel,exonic,KRT12,NA,synonymous SNV,KRT12:NM_000223:exon1:c.G69A:p.S23S,NA,NA,NA,NA,NA,NA
chr17,39383041,39383041,C,T,P305087_F,KRTAP9-2,Silent,NM_031961,exon1,c.C135T,p.S45S,SNP,SNVindel,exonic,KRTAP9-2,NA,synonymous SNV,KRTAP9-2:NM_031961:exon1:c.C135T:p.S45S,NA,NA,NA,NA,NA,NA
chr17,67092899,67092899,G,A,P305087_F,ABCA6,Missense_Mutation,NM_080284,exon24,c.C3164T,p.S1055F,SNP,SNVindel,exonic,ABCA6,NA,nonsynonymous SNV,ABCA6:NM_080284:exon24:c.C3164T:p.S1055F,D,D,D,D,D,D
chr17,74075418,74075418,C,T,P305087_F,ZACN,Nonsense_Mutation,NM_180990,exon1,c.C73T,p.Q25X,SNP,SNVindel,exonic,ZACN,NA,stopgain,ZACN:NM_180990:exon1:c.C73T:p.Q25X,.,N,A,.,.,.
chr19,2078332,2078332,G,A,P305087_F,MOB3A,Silent,NM_130807,exon3,c.C228T,p.Y76Y,SNP,SNVindel,exonic,MOB3A,NA,synonymous SNV,MOB3A:NM_130807:exon3:c.C228T:p.Y76Y,NA,NA,NA,NA,NA,NA
chr19,8654220,8654220,G,A,P305087_F,ADAMTS10,Silent,NM_001282352,exon5,c.C525T,p.S175S,SNP,SNVindel,exonic,ADAMTS10,NA,synonymous SNV,"ADAMTS10:NM_001282352:exon5:c.C525T:p.S175S,ADAMTS10:NM_030957:exon18:c.C2064T:p.S688S",NA,NA,NA,NA,NA,NA
chr19,9083780,9083780,C,A,P305087_F,MUC16,Missense_Mutation,NM_024690,exon1,c.G8035T,p.G2679C,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.G8035T:p.G2679C,D,.,N,T,N,T
chr19,35941558,35941558,G,C,P305087_F,FFAR2,Missense_Mutation,NM_001370087,exon2,c.G942C,p.R314S,SNP,SNVindel,exonic,FFAR2,NA,nonsynonymous SNV,"FFAR2:NM_001370087:exon2:c.G942C:p.R314S,FFAR2:NM_005306:exon3:c.G942C:p.R314S",T,N,N,T,N,T
chr19,39212212,39212212,G,A,P305087_F,ACTN4,Silent,NM_001322033,exon12,c.G1326A,p.E442E,SNP,SNVindel,exonic,ACTN4,NA,synonymous SNV,"ACTN4:NM_001322033:exon12:c.G1326A:p.E442E,ACTN4:NM_004924:exon12:c.G1326A:p.E442E",NA,NA,NA,NA,NA,NA
chr19,40719763,40719763,G,A,P305087_F,MAP3K10,Missense_Mutation,NM_002446,exon9,c.G2177A,p.R726H,SNP,SNVindel,exonic,MAP3K10,NA,nonsynonymous SNV,MAP3K10:NM_002446:exon9:c.G2177A:p.R726H,D,D,D,T,N,T
chr19,58574902,58574902,G,A,P305087_F,ZNF135,Silent,NM_001164527,exon3,c.G285A,p.V95V,SNP,SNVindel,exonic,ZNF135,NA,synonymous SNV,"ZNF135:NM_001164527:exon3:c.G285A:p.V95V,ZNF135:NM_001164529:exon3:c.G285A:p.V95V,ZNF135:NM_001164530:exon3:c.G285A:p.V95V,ZNF135:NM_007134:exon3:c.G285A:p.V95V,ZNF135:NM_001289401:exon4:c.G249A:p.V83V,ZNF135:NM_001289402:exon4:c.G123A:p.V41V,ZNF135:NM_003436:exon4:c.G249A:p.V83V",NA,NA,NA,NA,NA,NA
chr20,55905043,55905043,C,T,P305087_F,SPO11,Silent,NM_012444,exon1,c.C120T,p.R40R,SNP,SNVindel,exonic,SPO11,NA,synonymous SNV,"SPO11:NM_012444:exon1:c.C120T:p.R40R,SPO11:NM_198265:exon1:c.C120T:p.R40R",NA,NA,NA,NA,NA,NA
chr20,62871243,62871243,G,A,P305087_F,MYT1,Missense_Mutation,NM_004535,exon22,c.G3224A,p.R1075H,SNP,SNVindel,exonic,MYT1,NA,nonsynonymous SNV,MYT1:NM_004535:exon22:c.G3224A:p.R1075H,D,D,D,T,D,T
chr21,11097574,11097574,T,A,P305087_F,BAGE,Missense_Mutation,NM_001187,exon2,c.A88T,p.R30W,SNP,SNVindel,exonic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,nonsynonymous SNV,"BAGE:NM_001187:exon2:c.A88T:p.R30W,BAGE4:NM_181704:exon2:c.A88T:p.R30W,BAGE3:NM_182481:exon2:c.A88T:p.R30W,BAGE2:NM_182482:exon2:c.A88T:p.R30W,BAGE5:NM_182484:exon2:c.A88T:p.R30W",NA,NA,NA,NA,NA,NA
chr22,25620966,25620966,G,A,P305087_F,CRYBB2,Missense_Mutation,NM_000496,exon3,c.G136A,p.V46M,SNP,SNVindel,exonic,CRYBB2,NA,nonsynonymous SNV,CRYBB2:NM_000496:exon3:c.G136A:p.V46M,T,N,N,T,N,T
chr22,42377649,42377649,G,A,P305087_F,SEPTIN3,Missense_Mutation,NM_019106,exon2,c.G11A,p.G4E,SNP,SNVindel,exonic,SEPTIN3,NA,nonsynonymous SNV,"SEPTIN3:NM_019106:exon2:c.G11A:p.G4E,SEPTIN3:NM_145733:exon2:c.G11A:p.G4E,SEPTIN3:NM_001363845:exon3:c.G1505A:p.G502E",D,U,D,T,N,T
chr22,50480180,50480180,C,T,P305087_F,TTLL8,Missense_Mutation,NM_001350317,exon9,c.G808A,p.A270T,SNP,SNVindel,exonic,TTLL8,NA,nonsynonymous SNV,TTLL8:NM_001350317:exon9:c.G808A:p.A270T,D,N,N,T,D,T
chrX,25031350,25031350,G,A,P305087_F,ARX,Silent,NM_139058,exon2,c.C762T,p.D254D,SNP,SNVindel,exonic,ARX,NA,synonymous SNV,ARX:NM_139058:exon2:c.C762T:p.D254D,NA,NA,NA,NA,NA,NA
chrX,148069011,148069011,C,G,P305087_F,AFF2,Missense_Mutation,NM_001170628,exon17,c.C2661G,p.H887Q,SNP,SNVindel,exonic,AFF2,NA,nonsynonymous SNV,"AFF2:NM_001170628:exon17:c.C2661G:p.H887Q,AFF2:NM_001169122:exon19:c.C3633G:p.H1211Q,AFF2:NM_001169124:exon19:c.C3633G:p.H1211Q,AFF2:NM_001169125:exon19:c.C3621G:p.H1207Q,AFF2:NM_001169123:exon20:c.C3708G:p.H1236Q,AFF2:NM_002025:exon20:c.C3738G:p.H1246Q",D,D,D,T,D,T
chr1,22965749,22965749,G,A,P305087_F1,C1QA,Missense_Mutation,NM_001347465,exon3,c.G587A,p.G196E,SNP,SNVindel,exonic,C1QA,NA,nonsynonymous SNV,"C1QA:NM_001347465:exon3:c.G587A:p.G196E,C1QA:NM_001347466:exon3:c.G587A:p.G196E,C1QA:NM_015991:exon3:c.G587A:p.G196E",T,N,N,T,N,T
chr1,22973963,22973963,C,T,P305087_F1,C1QC,Missense_Mutation,NM_001347620,exon2,c.C158T,p.A53V,SNP,SNVindel,exonic,C1QC,NA,nonsynonymous SNV,"C1QC:NM_001347620:exon2:c.C158T:p.A53V,C1QC:NM_001114101:exon3:c.C425T:p.A142V,C1QC:NM_001347619:exon3:c.C425T:p.A142V,C1QC:NM_172369:exon3:c.C425T:p.A142V",T,N,N,T,N,T
chr1,27672010,27672010,G,A,P305087_F1,SYTL1,Missense_Mutation,NM_001193308,exon2,c.G185A,p.R62Q,SNP,SNVindel,exonic,SYTL1,NA,nonsynonymous SNV,"SYTL1:NM_001193308:exon2:c.G185A:p.R62Q,SYTL1:NM_032872:exon2:c.G185A:p.R62Q",D,N,D,T,N,D
chr1,60336769,60336769,C,T,P305087_F1,HOOK1,Missense_Mutation,NM_015888,exon21,c.C2003T,p.A668V,SNP,SNVindel,exonic,HOOK1,NA,nonsynonymous SNV,HOOK1:NM_015888:exon21:c.C2003T:p.A668V,D,D,D,T,D,T
chr1,103364519,103364519,C,A,P305087_F1,COL11A1,Missense_Mutation,NM_080630,exon53,c.G3770T,p.R1257I,SNP,SNVindel,exonic,COL11A1,NA,nonsynonymous SNV,"COL11A1:NM_080630:exon53:c.G3770T:p.R1257I,COL11A1:NM_001190709:exon54:c.G4001T:p.R1334I,COL11A1:NM_001854:exon55:c.G4118T:p.R1373I,COL11A1:NM_080629:exon55:c.G4154T:p.R1385I",D,D,D,D,D,D
chr1,158908251,158908251,A,G,P305087_F1,PYHIN1,Silent,NM_152501,exon3,c.A330G,p.K110K,SNP,SNVindel,exonic,PYHIN1,NA,synonymous SNV,"PYHIN1:NM_152501:exon3:c.A330G:p.K110K,PYHIN1:NM_198928:exon3:c.A303G:p.K101K,PYHIN1:NM_198929:exon3:c.A330G:p.K110K,PYHIN1:NM_198930:exon3:c.A303G:p.K101K",NA,NA,NA,NA,NA,NA
chr1,185931785,185931785,C,T,P305087_F1,HMCN1,Missense_Mutation,NM_031935,exon12,c.C1964T,p.S655L,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon12:c.C1964T:p.S655L,T,D,D,T,D,T
chr2,28742604,28742604,G,C,P305087_F1,PLB1,Missense_Mutation,NM_001170585,exon4,c.G217C,p.V73L,SNP,SNVindel,exonic,PLB1,NA,nonsynonymous SNV,"PLB1:NM_001170585:exon4:c.G217C:p.V73L,PLB1:NM_153021:exon4:c.G217C:p.V73L",D,N,N,T,N,T
chr2,106690371,106690371,G,A,P305087_F1,ECRG4,Missense_Mutation,NM_032411,exon3,c.G157A,p.V53I,SNP,SNVindel,exonic,ECRG4,NA,nonsynonymous SNV,ECRG4:NM_032411:exon3:c.G157A:p.V53I,T,N,N,T,N,T
chr2,162696414,162696414,C,T,P305087_F1,SLC4A10,Silent,NM_001354453,exon3,c.C246T,p.D82D,SNP,SNVindel,exonic,SLC4A10,NA,synonymous SNV,"SLC4A10:NM_001354453:exon3:c.C246T:p.D82D,SLC4A10:NM_001178015:exon4:c.C393T:p.D131D,SLC4A10:NM_001354440:exon4:c.C393T:p.D131D,SLC4A10:NM_001354444:exon4:c.C393T:p.D131D,SLC4A10:NM_001354446:exon4:c.C393T:p.D131D,SLC4A10:NM_001354449:exon4:c.C393T:p.D131D,SLC4A10:NM_001354450:exon4:c.C393T:p.D131D,SLC4A10:NM_001354451:exon4:c.C393T:p.D131D,SLC4A10:NM_022058:exon4:c.C393T:p.D131D,SLC4A10:NM_001178016:exon5:c.C426T:p.D142D,SLC4A10:NM_001354441:exon5:c.C426T:p.D142D,SLC4A10:NM_001354442:exon5:c.C426T:p.D142D,SLC4A10:NM_001354443:exon5:c.C429T:p.D143D,SLC4A10:NM_001354445:exon5:c.C426T:p.D142D,SLC4A10:NM_001354448:exon5:c.C426T:p.D142D,SLC4A10:NM_001354460:exon5:c.C429T:p.D143D,SLC4A10:NM_001354447:exon6:c.C429T:p.D143D,SLC4A10:NM_001354461:exon6:c.C429T:p.D143D",NA,NA,NA,NA,NA,NA
chr2,201478598,201478598,C,T,P305087_F1,AOX1,Missense_Mutation,NM_001159,exon15,c.C1520T,p.A507V,SNP,SNVindel,exonic,AOX1,NA,nonsynonymous SNV,AOX1:NM_001159:exon15:c.C1520T:p.A507V,T,D,D,T,D,T
chr2,211540487,211540487,C,T,P305087_F1,CPS1,Silent,NM_001875,exon36,c.C4197T,p.N1399N,SNP,SNVindel,exonic,CPS1,NA,synonymous SNV,"CPS1:NM_001875:exon36:c.C4197T:p.N1399N,CPS1:NM_001122633:exon37:c.C4197T:p.N1399N,CPS1:NM_001369256:exon37:c.C4230T:p.N1410N,CPS1:NM_001369257:exon38:c.C4197T:p.N1399N",NA,NA,NA,NA,NA,NA
chr3,4687110,4687110,C,G,P305087_F1,ITPR1,Missense_Mutation,NM_001099952,exon9,c.C664G,p.L222V,SNP,SNVindel,exonic,ITPR1,NA,nonsynonymous SNV,"ITPR1:NM_001099952:exon9:c.C664G:p.L222V,ITPR1:NM_001168272:exon9:c.C664G:p.L222V,ITPR1:NM_002222:exon9:c.C664G:p.L222V",T,D,D,D,N,D
chr3,52365317,52365317,C,T,P305087_F1,DNAH1,Missense_Mutation,NM_015512,exon7,c.C1025T,p.T342I,SNP,SNVindel,exonic,DNAH1,NA,nonsynonymous SNV,DNAH1:NM_015512:exon7:c.C1025T:p.T342I,T,N,N,T,N,T
chr3,108690192,108690192,A,G,P305087_F1,MORC1,Silent,NM_014429,exon25,c.T2535C,p.P845P,SNP,SNVindel,exonic,MORC1,NA,synonymous SNV,MORC1:NM_014429:exon25:c.T2535C:p.P845P,NA,NA,NA,NA,NA,NA
chr4,88732910,88732910,G,A,P305087_F1,IBSP,Missense_Mutation,NM_004967,exon7,c.G802A,p.A268T,SNP,SNVindel,exonic,IBSP,NA,nonsynonymous SNV,IBSP:NM_004967:exon7:c.G802A:p.A268T,T,N,N,T,N,T
chr4,175710035,175710035,G,A,P305087_F1,GLRA3,Missense_Mutation,NM_001042543,exon2,c.C131T,p.S44F,SNP,SNVindel,exonic,GLRA3,NA,nonsynonymous SNV,"GLRA3:NM_001042543:exon2:c.C131T:p.S44F,GLRA3:NM_006529:exon2:c.C131T:p.S44F",D,D,D,T,D,D
chr5,33461842,33461842,G,C,P305087_F1,TARS,Missense_Mutation,NM_152295,exon14,c.G1622C,p.G541A,SNP,SNVindel,exonic,TARS,NA,nonsynonymous SNV,"TARS:NM_152295:exon14:c.G1622C:p.G541A,TARS:NM_001258437:exon15:c.G1622C:p.G541A,TARS:NM_001258438:exon15:c.G1721C:p.G574A",D,D,D,T,D,D
chr5,43412394,43412394,C,T,P305087_F1,CCL28,Missense_Mutation,NM_001301873,exon1,c.G25A,p.V9M,SNP,SNVindel,exonic,CCL28,NA,nonsynonymous SNV,"CCL28:NM_001301873:exon1:c.G25A:p.V9M,CCL28:NM_001301874:exon1:c.G25A:p.V9M,CCL28:NM_148672:exon1:c.G25A:p.V9M",T,N,N,T,N,T
chr5,127674749,127674749,G,A,P305087_F1,FBN2,Silent,NM_001999,exon26,c.C3348T,p.I1116I,SNP,SNVindel,exonic,FBN2,NA,synonymous SNV,FBN2:NM_001999:exon26:c.C3348T:p.I1116I,NA,NA,NA,NA,NA,NA
chr5,140741567,140741567,G,A,P305087_F1,PCDHGB2,Missense_Mutation,NM_018923,exon1,c.G1865A,p.R622H,SNP,SNVindel,exonic,PCDHGB2,NA,nonsynonymous SNV,"PCDHGB2:NM_018923:exon1:c.G1865A:p.R622H,PCDHGB2:NM_032096:exon1:c.G1865A:p.R622H",T,.,D,T,N,T
chr5,150946696,150946696,G,A,P305087_F1,FAT2,Silent,NM_001447,exon1,c.C1797T,p.Y599Y,SNP,SNVindel,exonic,FAT2,NA,synonymous SNV,FAT2:NM_001447:exon1:c.C1797T:p.Y599Y,NA,NA,NA,NA,NA,NA
chr6,10796399,10796399,C,T,P305087_F1,MAK,Silent,NM_001242957,exon8,c.G975A,p.P325P,SNP,SNVindel,exonic,MAK,NA,synonymous SNV,"MAK:NM_001242957:exon8:c.G975A:p.P325P,MAK:NM_005906:exon8:c.G975A:p.P325P,MAK:NM_001242385:exon9:c.G975A:p.P325P",NA,NA,NA,NA,NA,NA
chr6,45405722,45405722,C,A,P305087_F1,RUNX2,Missense_Mutation,NM_001278478,exon3,c.C577A,p.P193T,SNP,SNVindel,exonic,RUNX2,NA,nonsynonymous SNV,"RUNX2:NM_001278478:exon3:c.C577A:p.P193T,RUNX2:NM_001369405:exon3:c.C577A:p.P193T,RUNX2:NM_001015051:exon5:c.C619A:p.P207T,RUNX2:NM_001024630:exon5:c.C619A:p.P207T",D,D,D,D,D,D
chr7,21892229,21892229,G,A,P305087_F1,DNAH11,Missense_Mutation,NM_001277115,exon67,c.G11041A,p.V3681M,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon67:c.G11041A:p.V3681M,D,D,N,T,N,T
chr7,45148666,45148666,C,T,P305087_F1,TBRG4,Silent,NM_001261834,exon2,c.G204A,p.P68P,SNP,SNVindel,exonic,TBRG4,NA,synonymous SNV,"TBRG4:NM_001261834:exon2:c.G204A:p.P68P,TBRG4:NM_004749:exon2:c.G171A:p.P57P,TBRG4:NM_030900:exon2:c.G171A:p.P57P,TBRG4:NM_199122:exon2:c.G171A:p.P57P",NA,NA,NA,NA,NA,NA
chr7,47408854,47408854,G,A,P305087_F1,TNS3,Silent,NM_022748,exon17,c.C1389T,p.H463H,SNP,SNVindel,exonic,TNS3,NA,synonymous SNV,TNS3:NM_022748:exon17:c.C1389T:p.H463H,NA,NA,NA,NA,NA,NA
chr7,50560650,50560650,G,A,P305087_F1,DDC,Missense_Mutation,NM_001242890,exon10,c.C998T,p.A333V,SNP,SNVindel,exonic,DDC,NA,nonsynonymous SNV,DDC:NM_001242890:exon10:c.C998T:p.A333V,D,.,N,T,N,T
chr7,70255361,70255361,C,T,P305087_F1,AUTS2,Silent,NM_001127231,exon18,c.C3087T,p.S1029S,SNP,SNVindel,exonic,AUTS2,NA,synonymous SNV,"AUTS2:NM_001127231:exon18:c.C3087T:p.S1029S,AUTS2:NM_015570:exon19:c.C3159T:p.S1053S",NA,NA,NA,NA,NA,NA
chr7,142611838,142611838,C,T,P305087_F1,TRPV5,Missense_Mutation,NM_019841,exon12,c.G1491A,p.M497I,SNP,SNVindel,exonic,TRPV5,NA,nonsynonymous SNV,TRPV5:NM_019841:exon12:c.G1491A:p.M497I,T,D,D,D,N,D
chr8,70476328,70476328,A,C,P305087_F1,SULF1,Missense_Mutation,NM_001128204,exon4,c.A118C,p.N40H,SNP,SNVindel,exonic,SULF1,NA,nonsynonymous SNV,"SULF1:NM_001128204:exon4:c.A118C:p.N40H,SULF1:NM_001128206:exon4:c.A118C:p.N40H,SULF1:NM_001128205:exon5:c.A118C:p.N40H,SULF1:NM_015170:exon5:c.A118C:p.N40H",D,D,D,D,N,D
chr8,110445410,110445410,T,C,P305087_F1,PKHD1L1,Missense_Mutation,NM_177531,exon28,c.T3305C,p.V1102A,SNP,SNVindel,exonic,PKHD1L1,NA,nonsynonymous SNV,PKHD1L1:NM_177531:exon28:c.T3305C:p.V1102A,D,N,N,T,D,T
chr8,121061906,121061906,C,T,P305087_F1,DEPTOR,Missense_Mutation,NM_001283012,exon7,c.C890T,p.T297M,SNP,SNVindel,exonic,DEPTOR,NA,nonsynonymous SNV,"DEPTOR:NM_001283012:exon7:c.C890T:p.T297M,DEPTOR:NM_022783:exon9:c.C1193T:p.T398M",D,D,D,T,N,T
chr9,34729356,34729356,G,A,P305087_F1,FAM205A,Silent,NM_001141917,exon1,c.C69T,p.I23I,SNP,SNVindel,exonic,FAM205A,NA,synonymous SNV,FAM205A:NM_001141917:exon1:c.C69T:p.I23I,NA,NA,NA,NA,NA,NA
chr9,37492329,37492329,T,C,P305087_F1,POLR1E,Silent,NM_001282766,exon5,c.T90C,p.C30C,SNP,SNVindel,exonic,POLR1E,NA,synonymous SNV,POLR1E:NM_001282766:exon5:c.T90C:p.C30C,NA,NA,NA,NA,NA,NA
chr9,112704997,112704997,A,G,P305087_F1,PALM2-AKAP2,Silent,NM_001037293,exon7,c.A432G,p.K144K,SNP,SNVindel,exonic,PALM2-AKAP2,NA,synonymous SNV,"PALM2-AKAP2:NM_001037293:exon7:c.A432G:p.K144K,PALM2-AKAP2:NM_053016:exon7:c.A528G:p.K176K",NA,NA,NA,NA,NA,NA
chr9,135418406,135418406,C,T,P305087_F1,CFAP77,Missense_Mutation,NM_001282957,exon5,c.C704T,p.T235I,SNP,SNVindel,exonic,CFAP77,NA,nonsynonymous SNV,"CFAP77:NM_001282957:exon5:c.C704T:p.T235I,CFAP77:NM_207417:exon6:c.C812T:p.T271I",D,N,N,T,N,T
chr11,47267065,47267065,C,T,P305087_F1,ACP2,Missense_Mutation,NM_001302490,exon4,c.G413A,p.R138Q,SNP,SNVindel,exonic,ACP2,NA,nonsynonymous SNV,"ACP2:NM_001302490:exon4:c.G413A:p.R138Q,ACP2:NM_001302489:exon5:c.G425A:p.R142Q,ACP2:NM_001610:exon5:c.G509A:p.R170Q",T,D,D,T,N,T
chr11,69588117,69588117,G,A,P305087_F1,FGF4,Missense_Mutation,NM_002007,exon3,c.C581T,p.S194L,SNP,SNVindel,exonic,FGF4,NA,nonsynonymous SNV,FGF4:NM_002007:exon3:c.C581T:p.S194L,D,D,D,D,D,D
chr11,129993594,129993594,G,A,P305087_F1,APLP2,Missense_Mutation,NM_001142276,exon7,c.G1010A,p.R337H,SNP,SNVindel,exonic,APLP2,NA,nonsynonymous SNV,"APLP2:NM_001142276:exon7:c.G1010A:p.R337H,APLP2:NM_001243299:exon7:c.G1040A:p.R347H,APLP2:NM_001328684:exon7:c.G1010A:p.R337H,APLP2:NM_001328686:exon7:c.G911A:p.R304H,APLP2:NM_001642:exon7:c.G1010A:p.R337H",T,N,D,T,N,T
chr12,51675283,51675283,T,C,P305087_F1,BIN2,Nonstop_Mutation,NM_001364781,exon11,c.A1536G,p.X512W,SNP,SNVindel,exonic,BIN2,NA,stoploss,"BIN2:NM_001364781:exon11:c.A1536G:p.X512W,BIN2:NM_001290008:exon12:c.A1602G:p.X534W,BIN2:NM_001290009:exon12:c.A1326G:p.X442W,BIN2:NM_001364780:exon12:c.A1617G:p.X539W,BIN2:NM_001290007:exon13:c.A1620G:p.X540W,BIN2:NM_001364779:exon13:c.A1695G:p.X565W,BIN2:NM_016293:exon13:c.A1698G:p.X566W",.,.,N,.,.,.
chr12,72956647,72956647,T,A,P305087_F1,TRHDE,Missense_Mutation,NM_013381,exon9,c.T1734A,p.N578K,SNP,SNVindel,exonic,TRHDE,NA,nonsynonymous SNV,TRHDE:NM_013381:exon9:c.T1734A:p.N578K,T,D,D,T,N,T
chr12,83251324,83251324,C,T,P305087_F1,TMTC2,Silent,NM_001320322,exon2,c.C619T,p.L207L,SNP,SNVindel,exonic,TMTC2,NA,synonymous SNV,"TMTC2:NM_001320322:exon2:c.C619T:p.L207L,TMTC2:NM_152588:exon2:c.C619T:p.L207L",NA,NA,NA,NA,NA,NA
chr13,98666453,98666453,G,A,P305087_F1,IPO5,Missense_Mutation,NM_002271,exon22,c.G2310A,p.M770I,SNP,SNVindel,exonic,IPO5,NA,nonsynonymous SNV,IPO5:NM_002271:exon22:c.G2310A:p.M770I,T,D,D,T,N,T
chr14,70039818,70039818,G,A,P305087_F1,CCDC177,Silent,NM_001271507,exon2,c.C522T,p.A174A,SNP,SNVindel,exonic,CCDC177,NA,synonymous SNV,CCDC177:NM_001271507:exon2:c.C522T:p.A174A,NA,NA,NA,NA,NA,NA
chr14,74874249,74874249,C,T,P305087_F1,SYNDIG1L,Missense_Mutation,NM_001105579,exon4,c.G706A,p.G236S,SNP,SNVindel,exonic,SYNDIG1L,NA,nonsynonymous SNV,SYNDIG1L:NM_001105579:exon4:c.G706A:p.G236S,T,N,D,D,N,D
chr14,91744349,91744349,G,A,P305087_F1,CCDC88C,Missense_Mutation,NM_001080414,exon29,c.C4975T,p.R1659W,SNP,SNVindel,exonic,CCDC88C,NA,nonsynonymous SNV,CCDC88C:NM_001080414:exon29:c.C4975T:p.R1659W,D,U,N,T,D,T
chr14,105644054,105644054,A,G,P305087_F1,NUDT14,Missense_Mutation,NM_001318380,exon2,c.T100C,p.W34R,SNP,SNVindel,exonic,NUDT14,NA,nonsynonymous SNV,"NUDT14:NM_001318380:exon2:c.T100C:p.W34R,NUDT14:NM_177533:exon2:c.T100C:p.W34R",D,D,D,T,D,T
chr15,31329941,31329941,C,T,P305087_F1,TRPM1,Silent,NM_001252020,exon19,c.G2595A,p.A865A,SNP,SNVindel,exonic,TRPM1,NA,synonymous SNV,"TRPM1:NM_001252020:exon19:c.G2595A:p.A865A,TRPM1:NM_002420:exon19:c.G2478A:p.A826A,TRPM1:NM_001252024:exon20:c.G2544A:p.A848A",NA,NA,NA,NA,NA,NA
chr15,32929571,32929571,C,A,P305087_F1,ARHGAP11A,Missense_Mutation,NM_001286479,exon12,c.C2030A,p.T677K,SNP,SNVindel,exonic,ARHGAP11A,NA,nonsynonymous SNV,"ARHGAP11A:NM_001286479:exon12:c.C2030A:p.T677K,ARHGAP11A:NM_014783:exon12:c.C2597A:p.T866K,ARHGAP11A:NM_001286480:exon13:c.C2030A:p.T677K",T,N,N,T,N,T
chr15,65793095,65793095,T,G,P305087_F1,DPP8,Missense_Mutation,NM_001320876,exon4,c.A395C,p.Y132S,SNP,SNVindel,exonic,DPP8,NA,nonsynonymous SNV,"DPP8:NM_001320876:exon4:c.A395C:p.Y132S,DPP8:NM_017743:exon4:c.A395C:p.Y132S,DPP8:NM_130434:exon4:c.A395C:p.Y132S,DPP8:NM_001320875:exon5:c.A443C:p.Y148S,DPP8:NM_197960:exon5:c.A443C:p.Y148S,DPP8:NM_197961:exon5:c.A443C:p.Y148S",D,D,D,T,D,T
chr16,2522188,2522188,T,A,P305087_F1,NTN3,Silent,NM_006181,exon1,c.T486A,p.P162P,SNP,SNVindel,exonic,NTN3,NA,synonymous SNV,NTN3:NM_006181:exon1:c.T486A:p.P162P,NA,NA,NA,NA,NA,NA
chr16,28845724,28845724,C,T,P305087_F1,ATXN2L,Missense_Mutation,NM_001308230,exon17,c.C2251T,p.R751W,SNP,SNVindel,exonic,ATXN2L,NA,nonsynonymous SNV,"ATXN2L:NM_001308230:exon17:c.C2251T:p.R751W,ATXN2L:NM_007245:exon17:c.C2233T:p.R745W,ATXN2L:NM_017492:exon17:c.C2233T:p.R745W,ATXN2L:NM_145714:exon17:c.C2233T:p.R745W,ATXN2L:NM_148414:exon17:c.C2233T:p.R745W,ATXN2L:NM_148415:exon17:c.C2233T:p.R745W,ATXN2L:NM_148416:exon17:c.C2233T:p.R745W",D,N,D,T,N,T
chr16,46766443,46766443,C,T,P305087_F1,MYLK3,Missense_Mutation,NM_001308301,exon3,c.G116A,p.R39H,SNP,SNVindel,exonic,MYLK3,NA,nonsynonymous SNV,"MYLK3:NM_001308301:exon3:c.G116A:p.R39H,MYLK3:NM_182493:exon4:c.G1139A:p.R380H",T,.,N,T,N,T
chr16,55705992,55705992,C,T,P305087_F1,SLC6A2,Silent,NM_001172502,exon1,c.C234T,p.P78P,SNP,SNVindel,exonic,SLC6A2,NA,synonymous SNV,"SLC6A2:NM_001172502:exon1:c.C234T:p.P78P,SLC6A2:NM_001043:exon3:c.C549T:p.P183P,SLC6A2:NM_001172504:exon3:c.C549T:p.P183P,SLC6A2:NM_001172501:exon4:c.C549T:p.P183P",NA,NA,NA,NA,NA,NA
chr16,68156950,68156950,T,G,P305087_F1,NFATC3,Missense_Mutation,NM_004555,exon2,c.T1164G,p.C388W,SNP,SNVindel,exonic,NFATC3,NA,nonsynonymous SNV,"NFATC3:NM_004555:exon2:c.T1164G:p.C388W,NFATC3:NM_173163:exon2:c.T1164G:p.C388W,NFATC3:NM_173165:exon2:c.T1164G:p.C388W",T,N,N,T,N,T
chr17,3336947,3336947,G,A,P305087_F1,OR1E2,Silent,NM_003554,exon1,c.C189T,p.L63L,SNP,SNVindel,exonic,OR1E2,NA,synonymous SNV,OR1E2:NM_003554:exon1:c.C189T:p.L63L,NA,NA,NA,NA,NA,NA
chr17,39023370,39023370,C,T,P305087_F1,KRT12,Silent,NM_000223,exon1,c.G69A,p.S23S,SNP,SNVindel,exonic,KRT12,NA,synonymous SNV,KRT12:NM_000223:exon1:c.G69A:p.S23S,NA,NA,NA,NA,NA,NA
chr17,39383041,39383041,C,T,P305087_F1,KRTAP9-2,Silent,NM_031961,exon1,c.C135T,p.S45S,SNP,SNVindel,exonic,KRTAP9-2,NA,synonymous SNV,KRTAP9-2:NM_031961:exon1:c.C135T:p.S45S,NA,NA,NA,NA,NA,NA
chr17,67092899,67092899,G,A,P305087_F1,ABCA6,Missense_Mutation,NM_080284,exon24,c.C3164T,p.S1055F,SNP,SNVindel,exonic,ABCA6,NA,nonsynonymous SNV,ABCA6:NM_080284:exon24:c.C3164T:p.S1055F,D,D,D,D,D,D
chr17,74075418,74075418,C,T,P305087_F1,ZACN,Nonsense_Mutation,NM_180990,exon1,c.C73T,p.Q25X,SNP,SNVindel,exonic,ZACN,NA,stopgain,ZACN:NM_180990:exon1:c.C73T:p.Q25X,.,N,A,.,.,.
chr19,2078332,2078332,G,A,P305087_F1,MOB3A,Silent,NM_130807,exon3,c.C228T,p.Y76Y,SNP,SNVindel,exonic,MOB3A,NA,synonymous SNV,MOB3A:NM_130807:exon3:c.C228T:p.Y76Y,NA,NA,NA,NA,NA,NA
chr19,8654220,8654220,G,A,P305087_F1,ADAMTS10,Silent,NM_001282352,exon5,c.C525T,p.S175S,SNP,SNVindel,exonic,ADAMTS10,NA,synonymous SNV,"ADAMTS10:NM_001282352:exon5:c.C525T:p.S175S,ADAMTS10:NM_030957:exon18:c.C2064T:p.S688S",NA,NA,NA,NA,NA,NA
chr19,35941558,35941558,G,C,P305087_F1,FFAR2,Missense_Mutation,NM_001370087,exon2,c.G942C,p.R314S,SNP,SNVindel,exonic,FFAR2,NA,nonsynonymous SNV,"FFAR2:NM_001370087:exon2:c.G942C:p.R314S,FFAR2:NM_005306:exon3:c.G942C:p.R314S",T,N,N,T,N,T
chr19,39212212,39212212,G,A,P305087_F1,ACTN4,Silent,NM_001322033,exon12,c.G1326A,p.E442E,SNP,SNVindel,exonic,ACTN4,NA,synonymous SNV,"ACTN4:NM_001322033:exon12:c.G1326A:p.E442E,ACTN4:NM_004924:exon12:c.G1326A:p.E442E",NA,NA,NA,NA,NA,NA
chr19,40719763,40719763,G,A,P305087_F1,MAP3K10,Missense_Mutation,NM_002446,exon9,c.G2177A,p.R726H,SNP,SNVindel,exonic,MAP3K10,NA,nonsynonymous SNV,MAP3K10:NM_002446:exon9:c.G2177A:p.R726H,D,D,D,T,N,T
chr20,55905043,55905043,C,T,P305087_F1,SPO11,Silent,NM_012444,exon1,c.C120T,p.R40R,SNP,SNVindel,exonic,SPO11,NA,synonymous SNV,"SPO11:NM_012444:exon1:c.C120T:p.R40R,SPO11:NM_198265:exon1:c.C120T:p.R40R",NA,NA,NA,NA,NA,NA
chr20,57766400,57766400,C,T,P305087_F1,ZNF831,Missense_Mutation,NM_178457,exon1,c.C326T,p.A109V,SNP,SNVindel,exonic,ZNF831,NA,nonsynonymous SNV,ZNF831:NM_178457:exon1:c.C326T:p.A109V,T,.,N,T,N,T
chr20,62871243,62871243,G,A,P305087_F1,MYT1,Missense_Mutation,NM_004535,exon22,c.G3224A,p.R1075H,SNP,SNVindel,exonic,MYT1,NA,nonsynonymous SNV,MYT1:NM_004535:exon22:c.G3224A:p.R1075H,D,D,D,T,D,T
chr22,21065645,21065645,A,G,P305087_F1,PI4KA,Silent,NM_001362862,exon50,c.T5814C,p.G1938G,SNP,SNVindel,exonic,PI4KA,NA,synonymous SNV,"PI4KA:NM_001362862:exon50:c.T5814C:p.G1938G,PI4KA:NM_001362863:exon50:c.T5841C:p.G1947G,PI4KA:NM_058004:exon51:c.T5907C:p.G1969G",NA,NA,NA,NA,NA,NA
chr22,42377649,42377649,G,A,P305087_F1,SEPTIN3,Missense_Mutation,NM_019106,exon2,c.G11A,p.G4E,SNP,SNVindel,exonic,SEPTIN3,NA,nonsynonymous SNV,"SEPTIN3:NM_019106:exon2:c.G11A:p.G4E,SEPTIN3:NM_145733:exon2:c.G11A:p.G4E,SEPTIN3:NM_001363845:exon3:c.G1505A:p.G502E",D,U,D,T,N,T
chr22,50480180,50480180,C,T,P305087_F1,TTLL8,Missense_Mutation,NM_001350317,exon9,c.G808A,p.A270T,SNP,SNVindel,exonic,TTLL8,NA,nonsynonymous SNV,TTLL8:NM_001350317:exon9:c.G808A:p.A270T,D,N,N,T,D,T
chrX,25031350,25031350,G,A,P305087_F1,ARX,Silent,NM_139058,exon2,c.C762T,p.D254D,SNP,SNVindel,exonic,ARX,NA,synonymous SNV,ARX:NM_139058:exon2:c.C762T:p.D254D,NA,NA,NA,NA,NA,NA
chrX,147030284,147030284,A,T,P305087_F1,FMR1,Missense_Mutation,NM_001185076,exon16,c.A1756T,p.T586S,SNP,SNVindel,exonic,FMR1,NA,nonsynonymous SNV,"FMR1:NM_001185076:exon16:c.A1756T:p.T586S,FMR1:NM_001185082:exon16:c.A1681T:p.T561S,FMR1:NM_002024:exon17:c.A1819T:p.T607S",T,D,D,T,N,T
chrX,148069011,148069011,C,G,P305087_F1,AFF2,Missense_Mutation,NM_001170628,exon17,c.C2661G,p.H887Q,SNP,SNVindel,exonic,AFF2,NA,nonsynonymous SNV,"AFF2:NM_001170628:exon17:c.C2661G:p.H887Q,AFF2:NM_001169122:exon19:c.C3633G:p.H1211Q,AFF2:NM_001169124:exon19:c.C3633G:p.H1211Q,AFF2:NM_001169125:exon19:c.C3621G:p.H1207Q,AFF2:NM_001169123:exon20:c.C3708G:p.H1236Q,AFF2:NM_002025:exon20:c.C3738G:p.H1246Q",D,D,D,T,D,T
chr1,5937218,5937218,G,A,P305087_S,NPHP4,Missense_Mutation,NM_001291594,exon16,c.C1216T,p.R406W,SNP,SNVindel,exonic,NPHP4,NA,nonsynonymous SNV,"NPHP4:NM_001291594:exon16:c.C1216T:p.R406W,NPHP4:NM_001291593:exon17:c.C1213T:p.R405W,NPHP4:NM_015102:exon20:c.C2752T:p.R918W",D,N,D,D,D,D
chr1,16891340,16891340,T,A,P305087_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,16892193,16892193,A,T,P305087_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,19600370,19600370,T,C,P305087_S,AKR7L,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,AKR7L,NA,unknown,UNKNOWN,.,N,N,.,.,T
chr1,22965749,22965749,G,A,P305087_S,C1QA,Missense_Mutation,NM_001347465,exon3,c.G587A,p.G196E,SNP,SNVindel,exonic,C1QA,NA,nonsynonymous SNV,"C1QA:NM_001347465:exon3:c.G587A:p.G196E,C1QA:NM_001347466:exon3:c.G587A:p.G196E,C1QA:NM_015991:exon3:c.G587A:p.G196E",T,N,N,T,N,T
chr1,22973963,22973963,C,T,P305087_S,C1QC,Missense_Mutation,NM_001347620,exon2,c.C158T,p.A53V,SNP,SNVindel,exonic,C1QC,NA,nonsynonymous SNV,"C1QC:NM_001347620:exon2:c.C158T:p.A53V,C1QC:NM_001114101:exon3:c.C425T:p.A142V,C1QC:NM_001347619:exon3:c.C425T:p.A142V,C1QC:NM_172369:exon3:c.C425T:p.A142V",T,N,N,T,N,T
chr1,25124332,25124332,G,A,P305087_S,CLIC4,Missense_Mutation,NM_013943,exon2,c.G172A,p.D58N,SNP,SNVindel,exonic,CLIC4,NA,nonsynonymous SNV,CLIC4:NM_013943:exon2:c.G172A:p.D58N,T,N,D,T,D,T
chr1,27672010,27672010,G,A,P305087_S,SYTL1,Missense_Mutation,NM_001193308,exon2,c.G185A,p.R62Q,SNP,SNVindel,exonic,SYTL1,NA,nonsynonymous SNV,"SYTL1:NM_001193308:exon2:c.G185A:p.R62Q,SYTL1:NM_032872:exon2:c.G185A:p.R62Q",D,N,D,T,N,D
chr1,62228792,62228792,A,T,P305087_S,PATJ,Missense_Mutation,NM_001350145,exon3,c.A130T,p.S44C,SNP,SNVindel,exonic,PATJ,NA,nonsynonymous SNV,"PATJ:NM_001350145:exon3:c.A130T:p.S44C,PATJ:NM_176877:exon3:c.A130T:p.S44C",D,D,D,T,D,T
chr1,158908251,158908251,A,G,P305087_S,PYHIN1,Silent,NM_152501,exon3,c.A330G,p.K110K,SNP,SNVindel,exonic,PYHIN1,NA,synonymous SNV,"PYHIN1:NM_152501:exon3:c.A330G:p.K110K,PYHIN1:NM_198928:exon3:c.A303G:p.K101K,PYHIN1:NM_198929:exon3:c.A330G:p.K110K,PYHIN1:NM_198930:exon3:c.A303G:p.K101K",NA,NA,NA,NA,NA,NA
chr1,169391134,169391134,C,T,P305087_S,CCDC181,Missense_Mutation,NM_001300969,exon3,c.G535A,p.E179K,SNP,SNVindel,exonic,CCDC181,NA,nonsynonymous SNV,"CCDC181:NM_001300969:exon3:c.G535A:p.E179K,CCDC181:NM_021179:exon3:c.G535A:p.E179K,CCDC181:NM_001300968:exon4:c.G535A:p.E179K",D,D,D,T,N,T
chr1,185931785,185931785,C,T,P305087_S,HMCN1,Missense_Mutation,NM_031935,exon12,c.C1964T,p.S655L,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon12:c.C1964T:p.S655L,T,D,D,T,D,T
chr1,196759347,196759347,A,T,P305087_S,CFHR3,Silent,NM_001166624,exon4,c.A603T,p.P201P,SNP,SNVindel,exonic,CFHR3,NA,synonymous SNV,"CFHR3:NM_001166624:exon4:c.A603T:p.P201P,CFHR3:NM_021023:exon5:c.A786T:p.P262P",NA,NA,NA,NA,NA,NA
chr2,106690371,106690371,G,A,P305087_S,ECRG4,Missense_Mutation,NM_032411,exon3,c.G157A,p.V53I,SNP,SNVindel,exonic,ECRG4,NA,nonsynonymous SNV,ECRG4:NM_032411:exon3:c.G157A:p.V53I,T,N,N,T,N,T
chr2,162696414,162696414,C,T,P305087_S,SLC4A10,Silent,NM_001354453,exon3,c.C246T,p.D82D,SNP,SNVindel,exonic,SLC4A10,NA,synonymous SNV,"SLC4A10:NM_001354453:exon3:c.C246T:p.D82D,SLC4A10:NM_001178015:exon4:c.C393T:p.D131D,SLC4A10:NM_001354440:exon4:c.C393T:p.D131D,SLC4A10:NM_001354444:exon4:c.C393T:p.D131D,SLC4A10:NM_001354446:exon4:c.C393T:p.D131D,SLC4A10:NM_001354449:exon4:c.C393T:p.D131D,SLC4A10:NM_001354450:exon4:c.C393T:p.D131D,SLC4A10:NM_001354451:exon4:c.C393T:p.D131D,SLC4A10:NM_022058:exon4:c.C393T:p.D131D,SLC4A10:NM_001178016:exon5:c.C426T:p.D142D,SLC4A10:NM_001354441:exon5:c.C426T:p.D142D,SLC4A10:NM_001354442:exon5:c.C426T:p.D142D,SLC4A10:NM_001354443:exon5:c.C429T:p.D143D,SLC4A10:NM_001354445:exon5:c.C426T:p.D142D,SLC4A10:NM_001354448:exon5:c.C426T:p.D142D,SLC4A10:NM_001354460:exon5:c.C429T:p.D143D,SLC4A10:NM_001354447:exon6:c.C429T:p.D143D,SLC4A10:NM_001354461:exon6:c.C429T:p.D143D",NA,NA,NA,NA,NA,NA
chr2,201478598,201478598,C,T,P305087_S,AOX1,Missense_Mutation,NM_001159,exon15,c.C1520T,p.A507V,SNP,SNVindel,exonic,AOX1,NA,nonsynonymous SNV,AOX1:NM_001159:exon15:c.C1520T:p.A507V,T,D,D,T,D,T
chr2,211540487,211540487,C,T,P305087_S,CPS1,Silent,NM_001875,exon36,c.C4197T,p.N1399N,SNP,SNVindel,exonic,CPS1,NA,synonymous SNV,"CPS1:NM_001875:exon36:c.C4197T:p.N1399N,CPS1:NM_001122633:exon37:c.C4197T:p.N1399N,CPS1:NM_001369256:exon37:c.C4230T:p.N1410N,CPS1:NM_001369257:exon38:c.C4197T:p.N1399N",NA,NA,NA,NA,NA,NA
chr3,4687110,4687110,C,G,P305087_S,ITPR1,Missense_Mutation,NM_001099952,exon9,c.C664G,p.L222V,SNP,SNVindel,exonic,ITPR1,NA,nonsynonymous SNV,"ITPR1:NM_001099952:exon9:c.C664G:p.L222V,ITPR1:NM_001168272:exon9:c.C664G:p.L222V,ITPR1:NM_002222:exon9:c.C664G:p.L222V",T,D,D,D,N,D
chr3,52485518,52485518,C,G,P305087_S,TNNC1,Missense_Mutation,NM_003280,exon5,c.G343C,p.D115H,SNP,SNVindel,exonic,TNNC1,NA,nonsynonymous SNV,TNNC1:NM_003280:exon5:c.G343C:p.D115H,T,N,D,T,N,T
chr3,97887837,97887837,G,A,P305087_S,OR5H15,Silent,NM_001005515,exon1,c.G294A,p.K98K,SNP,SNVindel,exonic,OR5H15,NA,synonymous SNV,OR5H15:NM_001005515:exon1:c.G294A:p.K98K,NA,NA,NA,NA,NA,NA
chr3,108690192,108690192,A,G,P305087_S,MORC1,Silent,NM_014429,exon25,c.T2535C,p.P845P,SNP,SNVindel,exonic,MORC1,NA,synonymous SNV,MORC1:NM_014429:exon25:c.T2535C:p.P845P,NA,NA,NA,NA,NA,NA
chr3,150460147,150460147,A,G,P305087_S,SIAH2,Silent,NM_005067,exon2,c.T756C,p.I252I,SNP,SNVindel,exonic,SIAH2,NA,synonymous SNV,SIAH2:NM_005067:exon2:c.T756C:p.I252I,NA,NA,NA,NA,NA,NA
chr4,8229531,8229531,G,A,P305087_S,SH3TC1,Missense_Mutation,NM_001318480,exon12,c.G1882A,p.A628T,SNP,SNVindel,exonic,SH3TC1,NA,nonsynonymous SNV,"SH3TC1:NM_001318480:exon12:c.G1882A:p.A628T,SH3TC1:NM_018986:exon12:c.G2110A:p.A704T",T,N,N,T,N,T
chr4,37246745,37246745,G,A,P305087_S,NWD2,Missense_Mutation,NM_001144990,exon1,c.G56A,p.R19Q,SNP,SNVindel,exonic,NWD2,NA,nonsynonymous SNV,NWD2:NM_001144990:exon1:c.G56A:p.R19Q,T,.,D,T,N,T
chr4,88732910,88732910,G,A,P305087_S,IBSP,Missense_Mutation,NM_004967,exon7,c.G802A,p.A268T,SNP,SNVindel,exonic,IBSP,NA,nonsynonymous SNV,IBSP:NM_004967:exon7:c.G802A:p.A268T,T,N,N,T,N,T
chr4,175710035,175710035,G,A,P305087_S,GLRA3,Missense_Mutation,NM_001042543,exon2,c.C131T,p.S44F,SNP,SNVindel,exonic,GLRA3,NA,nonsynonymous SNV,"GLRA3:NM_001042543:exon2:c.C131T:p.S44F,GLRA3:NM_006529:exon2:c.C131T:p.S44F",D,D,D,T,D,D
chr5,33461842,33461842,G,C,P305087_S,TARS,Missense_Mutation,NM_152295,exon14,c.G1622C,p.G541A,SNP,SNVindel,exonic,TARS,NA,nonsynonymous SNV,"TARS:NM_152295:exon14:c.G1622C:p.G541A,TARS:NM_001258437:exon15:c.G1622C:p.G541A,TARS:NM_001258438:exon15:c.G1721C:p.G574A",D,D,D,T,D,D
chr5,127674749,127674749,G,A,P305087_S,FBN2,Silent,NM_001999,exon26,c.C3348T,p.I1116I,SNP,SNVindel,exonic,FBN2,NA,synonymous SNV,FBN2:NM_001999:exon26:c.C3348T:p.I1116I,NA,NA,NA,NA,NA,NA
chr5,140201527,140201527,C,T,P305087_S,PCDHA5,Missense_Mutation,NM_018908,exon1,c.C167T,p.A56V,SNP,SNVindel,exonic,PCDHA5,NA,nonsynonymous SNV,"PCDHA5:NM_018908:exon1:c.C167T:p.A56V,PCDHA5:NM_031501:exon1:c.C167T:p.A56V",D,.,N,T,D,T
chr5,140229691,140229691,G,A,P305087_S,PCDHA9,Silent,NM_014005,exon1,c.G1611A,p.A537A,SNP,SNVindel,exonic,PCDHA9,NA,synonymous SNV,"PCDHA9:NM_014005:exon1:c.G1611A:p.A537A,PCDHA9:NM_031857:exon1:c.G1611A:p.A537A",NA,NA,NA,NA,NA,NA
chr5,140475993,140475993,C,T,P305087_S,PCDHB2,Missense_Mutation,NM_018936,exon1,c.C1619T,p.S540F,SNP,SNVindel,exonic,PCDHB2,NA,nonsynonymous SNV,PCDHB2:NM_018936:exon1:c.C1619T:p.S540F,T,.,N,T,D,T
chr5,140741567,140741567,G,A,P305087_S,PCDHGB2,Missense_Mutation,NM_018923,exon1,c.G1865A,p.R622H,SNP,SNVindel,exonic,PCDHGB2,NA,nonsynonymous SNV,"PCDHGB2:NM_018923:exon1:c.G1865A:p.R622H,PCDHGB2:NM_032096:exon1:c.G1865A:p.R622H",T,.,D,T,N,T
chr5,150946696,150946696,G,A,P305087_S,FAT2,Silent,NM_001447,exon1,c.C1797T,p.Y599Y,SNP,SNVindel,exonic,FAT2,NA,synonymous SNV,FAT2:NM_001447:exon1:c.C1797T:p.Y599Y,NA,NA,NA,NA,NA,NA
chr6,7583973,7583973,C,T,P305087_S,DSP,Nonsense_Mutation,NM_001008844,exon24,c.C4681T,p.R1561X,SNP,SNVindel,exonic,DSP,NA,stopgain,"DSP:NM_001008844:exon24:c.C4681T:p.R1561X,DSP:NM_001319034:exon24:c.C5149T:p.R1717X,DSP:NM_004415:exon24:c.C6478T:p.R2160X",.,D,D,.,.,.
chr6,10796399,10796399,C,T,P305087_S,MAK,Silent,NM_001242957,exon8,c.G975A,p.P325P,SNP,SNVindel,exonic,MAK,NA,synonymous SNV,"MAK:NM_001242957:exon8:c.G975A:p.P325P,MAK:NM_005906:exon8:c.G975A:p.P325P,MAK:NM_001242385:exon9:c.G975A:p.P325P",NA,NA,NA,NA,NA,NA
chr6,39159211,39159211,C,A,P305087_S,KCNK5,Missense_Mutation,NM_003740,exon5,c.G955T,p.G319W,SNP,SNVindel,exonic,KCNK5,NA,nonsynonymous SNV,KCNK5:NM_003740:exon5:c.G955T:p.G319W,D,N,D,T,N,T
chr6,45405722,45405722,C,A,P305087_S,RUNX2,Missense_Mutation,NM_001278478,exon3,c.C577A,p.P193T,SNP,SNVindel,exonic,RUNX2,NA,nonsynonymous SNV,"RUNX2:NM_001278478:exon3:c.C577A:p.P193T,RUNX2:NM_001369405:exon3:c.C577A:p.P193T,RUNX2:NM_001015051:exon5:c.C619A:p.P207T,RUNX2:NM_001024630:exon5:c.C619A:p.P207T",D,D,D,D,D,D
chr7,21892229,21892229,G,A,P305087_S,DNAH11,Missense_Mutation,NM_001277115,exon67,c.G11041A,p.V3681M,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon67:c.G11041A:p.V3681M,D,D,N,T,N,T
chr7,31682850,31682850,C,T,P305087_S,ITPRID1,Silent,NM_194300,exon10,c.C1866T,p.S622S,SNP,SNVindel,exonic,ITPRID1,NA,synonymous SNV,"ITPRID1:NM_194300:exon10:c.C1866T:p.S622S,ITPRID1:NM_001257968:exon11:c.C1944T:p.S648S,ITPRID1:NM_001257967:exon12:c.C1896T:p.S632S",NA,NA,NA,NA,NA,NA
chr7,45148666,45148666,C,T,P305087_S,TBRG4,Silent,NM_001261834,exon2,c.G204A,p.P68P,SNP,SNVindel,exonic,TBRG4,NA,synonymous SNV,"TBRG4:NM_001261834:exon2:c.G204A:p.P68P,TBRG4:NM_004749:exon2:c.G171A:p.P57P,TBRG4:NM_030900:exon2:c.G171A:p.P57P,TBRG4:NM_199122:exon2:c.G171A:p.P57P",NA,NA,NA,NA,NA,NA
chr7,47408854,47408854,G,A,P305087_S,TNS3,Silent,NM_022748,exon17,c.C1389T,p.H463H,SNP,SNVindel,exonic,TNS3,NA,synonymous SNV,TNS3:NM_022748:exon17:c.C1389T:p.H463H,NA,NA,NA,NA,NA,NA
chr7,50560650,50560650,G,A,P305087_S,DDC,Missense_Mutation,NM_001242890,exon10,c.C998T,p.A333V,SNP,SNVindel,exonic,DDC,NA,nonsynonymous SNV,DDC:NM_001242890:exon10:c.C998T:p.A333V,D,.,N,T,N,T
chr7,70255361,70255361,C,T,P305087_S,AUTS2,Silent,NM_001127231,exon18,c.C3087T,p.S1029S,SNP,SNVindel,exonic,AUTS2,NA,synonymous SNV,"AUTS2:NM_001127231:exon18:c.C3087T:p.S1029S,AUTS2:NM_015570:exon19:c.C3159T:p.S1053S",NA,NA,NA,NA,NA,NA
chr7,142611838,142611838,C,T,P305087_S,TRPV5,Missense_Mutation,NM_019841,exon12,c.G1491A,p.M497I,SNP,SNVindel,exonic,TRPV5,NA,nonsynonymous SNV,TRPV5:NM_019841:exon12:c.G1491A:p.M497I,T,D,D,D,N,D
chr7,143807568,143807568,G,A,P305087_S,OR2A2,Missense_Mutation,NM_001005480,exon1,c.G893A,p.G298D,SNP,SNVindel,exonic,OR2A2,NA,nonsynonymous SNV,OR2A2:NM_001005480:exon1:c.G893A:p.G298D,D,U,N,T,D,T
chr8,27315998,27315998,C,A,P305087_S,PTK2B,Missense_Mutation,NM_173175,exon30,c.C2876A,p.A959D,SNP,SNVindel,exonic,PTK2B,NA,nonsynonymous SNV,"PTK2B:NM_173175:exon30:c.C2876A:p.A959D,PTK2B:NM_173176:exon31:c.C3002A:p.A1001D,PTK2B:NM_004103:exon32:c.C3002A:p.A1001D,PTK2B:NM_173174:exon36:c.C3002A:p.A1001D",T,D,D,T,D,T
chr8,48798674,48798674,G,A,P305087_S,PRKDC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PRKDC,NA,unknown,UNKNOWN,.,N,N,.,.,T
chr8,71556342,71556342,A,C,P305087_S,LACTB2,Missense_Mutation,NM_016027,exon4,c.T550G,p.L184V,SNP,SNVindel,exonic,LACTB2,NA,nonsynonymous SNV,LACTB2:NM_016027:exon4:c.T550G:p.L184V,D,D,D,T,D,T
chr8,110445410,110445410,T,C,P305087_S,PKHD1L1,Missense_Mutation,NM_177531,exon28,c.T3305C,p.V1102A,SNP,SNVindel,exonic,PKHD1L1,NA,nonsynonymous SNV,PKHD1L1:NM_177531:exon28:c.T3305C:p.V1102A,D,N,N,T,D,T
chr8,121061906,121061906,C,T,P305087_S,DEPTOR,Missense_Mutation,NM_001283012,exon7,c.C890T,p.T297M,SNP,SNVindel,exonic,DEPTOR,NA,nonsynonymous SNV,"DEPTOR:NM_001283012:exon7:c.C890T:p.T297M,DEPTOR:NM_022783:exon9:c.C1193T:p.T398M",D,D,D,T,N,T
chr8,144378950,144378950,C,T,P305087_S,ZNF696,Missense_Mutation,NM_030895,exon3,c.C1105T,p.R369W,SNP,SNVindel,exonic,ZNF696,NA,nonsynonymous SNV,ZNF696:NM_030895:exon3:c.C1105T:p.R369W,D,.,N,T,D,T
chr8,145731768,145731768,C,T,P305087_S,GPT,Silent,NM_005309,exon8,c.C1110T,p.P370P,SNP,SNVindel,exonic,GPT,NA,synonymous SNV,GPT:NM_005309:exon8:c.C1110T:p.P370P,NA,NA,NA,NA,NA,NA
chr9,34729356,34729356,G,A,P305087_S,FAM205A,Silent,NM_001141917,exon1,c.C69T,p.I23I,SNP,SNVindel,exonic,FAM205A,NA,synonymous SNV,FAM205A:NM_001141917:exon1:c.C69T:p.I23I,NA,NA,NA,NA,NA,NA
chr9,112704997,112704997,A,G,P305087_S,PALM2-AKAP2,Silent,NM_001037293,exon7,c.A432G,p.K144K,SNP,SNVindel,exonic,PALM2-AKAP2,NA,synonymous SNV,"PALM2-AKAP2:NM_001037293:exon7:c.A432G:p.K144K,PALM2-AKAP2:NM_053016:exon7:c.A528G:p.K176K",NA,NA,NA,NA,NA,NA
chr9,135418406,135418406,C,T,P305087_S,CFAP77,Missense_Mutation,NM_001282957,exon5,c.C704T,p.T235I,SNP,SNVindel,exonic,CFAP77,NA,nonsynonymous SNV,"CFAP77:NM_001282957:exon5:c.C704T:p.T235I,CFAP77:NM_207417:exon6:c.C812T:p.T271I",D,N,N,T,N,T
chr11,66052204,66052204,G,A,P305087_S,YIF1A,Silent,NM_001300861,exon7,c.C630T,p.P210P,SNP,SNVindel,exonic,YIF1A,NA,synonymous SNV,"YIF1A:NM_001300861:exon7:c.C630T:p.P210P,YIF1A:NM_020470:exon8:c.C786T:p.P262P",D,N,N,.,N,T
chr11,69588117,69588117,G,A,P305087_S,FGF4,Missense_Mutation,NM_002007,exon3,c.C581T,p.S194L,SNP,SNVindel,exonic,FGF4,NA,nonsynonymous SNV,FGF4:NM_002007:exon3:c.C581T:p.S194L,D,D,D,D,D,D
chr11,117061382,117061382,G,A,P305087_S,SIDT2,Missense_Mutation,NM_001040455,exon18,c.G1661A,p.G554D,SNP,SNVindel,exonic,SIDT2,NA,nonsynonymous SNV,SIDT2:NM_001040455:exon18:c.G1661A:p.G554D,D,D,D,T,D,D
chr11,129993594,129993594,G,A,P305087_S,APLP2,Missense_Mutation,NM_001142276,exon7,c.G1010A,p.R337H,SNP,SNVindel,exonic,APLP2,NA,nonsynonymous SNV,"APLP2:NM_001142276:exon7:c.G1010A:p.R337H,APLP2:NM_001243299:exon7:c.G1040A:p.R347H,APLP2:NM_001328684:exon7:c.G1010A:p.R337H,APLP2:NM_001328686:exon7:c.G911A:p.R304H,APLP2:NM_001642:exon7:c.G1010A:p.R337H",T,N,D,T,N,T
chr12,32996124,32996124,T,C,P305087_S,PKP2,Missense_Mutation,NM_004572,exon6,c.A1502G,p.D501G,SNP,SNVindel,exonic,PKP2,NA,nonsynonymous SNV,PKP2:NM_004572:exon6:c.A1502G:p.D501G,T,.,N,T,N,T
chr12,48920261,48920261,C,T,P305087_S,OR8S1,Silent,NM_001005203,exon1,c.C847T,p.L283L,SNP,SNVindel,exonic,OR8S1,NA,synonymous SNV,OR8S1:NM_001005203:exon1:c.C847T:p.L283L,NA,NA,NA,NA,NA,NA
chr12,51675283,51675283,T,C,P305087_S,BIN2,Nonstop_Mutation,NM_001364781,exon11,c.A1536G,p.X512W,SNP,SNVindel,exonic,BIN2,NA,stoploss,"BIN2:NM_001364781:exon11:c.A1536G:p.X512W,BIN2:NM_001290008:exon12:c.A1602G:p.X534W,BIN2:NM_001290009:exon12:c.A1326G:p.X442W,BIN2:NM_001364780:exon12:c.A1617G:p.X539W,BIN2:NM_001290007:exon13:c.A1620G:p.X540W,BIN2:NM_001364779:exon13:c.A1695G:p.X565W,BIN2:NM_016293:exon13:c.A1698G:p.X566W",.,.,N,.,.,.
chr12,72956647,72956647,T,A,P305087_S,TRHDE,Missense_Mutation,NM_013381,exon9,c.T1734A,p.N578K,SNP,SNVindel,exonic,TRHDE,NA,nonsynonymous SNV,TRHDE:NM_013381:exon9:c.T1734A:p.N578K,T,D,D,T,N,T
chr12,100200345,100200345,G,C,P305087_S,ANKS1B,Missense_Mutation,NM_001352185,exon4,c.C506G,p.A169G,SNP,SNVindel,exonic,ANKS1B,NA,nonsynonymous SNV,"ANKS1B:NM_001352185:exon4:c.C506G:p.A169G,ANKS1B:NM_001352186:exon4:c.C506G:p.A169G,ANKS1B:NM_001352187:exon4:c.C506G:p.A169G,ANKS1B:NM_001352188:exon4:c.C506G:p.A169G,ANKS1B:NM_152788:exon4:c.C506G:p.A169G",D,D,D,T,N,D
chr13,39588483,39588483,G,A,P305087_S,PROSER1,Silent,NM_170719,exon10,c.C840T,p.T280T,SNP,SNVindel,exonic,PROSER1,NA,synonymous SNV,"PROSER1:NM_170719:exon10:c.C840T:p.T280T,PROSER1:NM_025138:exon11:c.C906T:p.T302T",NA,NA,NA,NA,NA,NA
chr13,98666453,98666453,G,A,P305087_S,IPO5,Missense_Mutation,NM_002271,exon22,c.G2310A,p.M770I,SNP,SNVindel,exonic,IPO5,NA,nonsynonymous SNV,IPO5:NM_002271:exon22:c.G2310A:p.M770I,T,D,D,T,N,T
chr14,32561340,32561340,G,A,P305087_S,ARHGAP5,Missense_Mutation,NM_001030055,exon2,c.G1465A,p.E489K,SNP,SNVindel,exonic,ARHGAP5,NA,nonsynonymous SNV,"ARHGAP5:NM_001030055:exon2:c.G1465A:p.E489K,ARHGAP5:NM_001173:exon2:c.G1465A:p.E489K",D,D,D,T,N,T
chr14,32586382,32586382,C,T,P305087_S,ARHGAP5,Missense_Mutation,NM_001030055,exon3,c.C3754T,p.R1252C,SNP,SNVindel,exonic,ARHGAP5,NA,nonsynonymous SNV,"ARHGAP5:NM_001030055:exon3:c.C3754T:p.R1252C,ARHGAP5:NM_001173:exon3:c.C3751T:p.R1251C",D,D,D,T,N,T
chr14,74874249,74874249,C,T,P305087_S,SYNDIG1L,Missense_Mutation,NM_001105579,exon4,c.G706A,p.G236S,SNP,SNVindel,exonic,SYNDIG1L,NA,nonsynonymous SNV,SYNDIG1L:NM_001105579:exon4:c.G706A:p.G236S,T,N,D,D,N,D
chr14,105644054,105644054,A,G,P305087_S,NUDT14,Missense_Mutation,NM_001318380,exon2,c.T100C,p.W34R,SNP,SNVindel,exonic,NUDT14,NA,nonsynonymous SNV,"NUDT14:NM_001318380:exon2:c.T100C:p.W34R,NUDT14:NM_177533:exon2:c.T100C:p.W34R",D,D,D,T,D,T
chr15,31329941,31329941,C,T,P305087_S,TRPM1,Silent,NM_001252020,exon19,c.G2595A,p.A865A,SNP,SNVindel,exonic,TRPM1,NA,synonymous SNV,"TRPM1:NM_001252020:exon19:c.G2595A:p.A865A,TRPM1:NM_002420:exon19:c.G2478A:p.A826A,TRPM1:NM_001252024:exon20:c.G2544A:p.A848A",NA,NA,NA,NA,NA,NA
chr15,43661958,43661958,G,A,P305087_S,ZSCAN29,Missense_Mutation,NM_152455,exon1,c.C154T,p.R52C,SNP,SNVindel,exonic,ZSCAN29,NA,nonsynonymous SNV,ZSCAN29:NM_152455:exon1:c.C154T:p.R52C,T,N,D,T,D,T
chr15,56387077,56387077,G,T,P305087_S,RFX7,Missense_Mutation,NM_001368073,exon9,c.C2558A,p.P853H,SNP,SNVindel,exonic,RFX7,NA,nonsynonymous SNV,"RFX7:NM_001368073:exon9:c.C2558A:p.P853H,RFX7:NM_001368074:exon9:c.C2558A:p.P853H,RFX7:NM_001370554:exon9:c.C2558A:p.P853H,RFX7:NM_022841:exon10:c.C2849A:p.P950H,RFX7:NM_001370561:exon12:c.C2849A:p.P950H",D,D,D,T,N,T
chr15,65793095,65793095,T,G,P305087_S,DPP8,Missense_Mutation,NM_001320876,exon4,c.A395C,p.Y132S,SNP,SNVindel,exonic,DPP8,NA,nonsynonymous SNV,"DPP8:NM_001320876:exon4:c.A395C:p.Y132S,DPP8:NM_017743:exon4:c.A395C:p.Y132S,DPP8:NM_130434:exon4:c.A395C:p.Y132S,DPP8:NM_001320875:exon5:c.A443C:p.Y148S,DPP8:NM_197960:exon5:c.A443C:p.Y148S,DPP8:NM_197961:exon5:c.A443C:p.Y148S",D,D,D,T,D,T
chr15,73536755,73536755,G,A,P305087_S,NEO1,Missense_Mutation,NM_001172623,exon9,c.G1522A,p.V508M,SNP,SNVindel,exonic,NEO1,NA,nonsynonymous SNV,"NEO1:NM_001172623:exon9:c.G1522A:p.V508M,NEO1:NM_001172624:exon9:c.G1522A:p.V508M,NEO1:NM_002499:exon9:c.G1522A:p.V508M",T,D,D,T,N,T
chr16,2522188,2522188,T,A,P305087_S,NTN3,Silent,NM_006181,exon1,c.T486A,p.P162P,SNP,SNVindel,exonic,NTN3,NA,synonymous SNV,NTN3:NM_006181:exon1:c.T486A:p.P162P,NA,NA,NA,NA,NA,NA
chr16,12021476,12021476,C,T,P305087_S,NPIPB2,Silent,NM_001355514,exon9,c.G426A,p.A142A,SNP,SNVindel,exonic,NPIPB2,NA,synonymous SNV,NPIPB2:NM_001355514:exon9:c.G426A:p.A142A,NA,NA,NA,NA,NA,NA
chr16,27357892,27357892,C,G,P305087_S,IL4R,Missense_Mutation,NM_001257406,exon5,c.C466G,p.H156D,SNP,SNVindel,exonic,IL4R,NA,nonsynonymous SNV,"IL4R:NM_001257406:exon5:c.C466G:p.H156D,IL4R:NM_000418:exon6:c.C466G:p.H156D,IL4R:NM_001257407:exon6:c.C421G:p.H141D",T,N,N,T,N,T
chr16,28845724,28845724,C,T,P305087_S,ATXN2L,Missense_Mutation,NM_001308230,exon17,c.C2251T,p.R751W,SNP,SNVindel,exonic,ATXN2L,NA,nonsynonymous SNV,"ATXN2L:NM_001308230:exon17:c.C2251T:p.R751W,ATXN2L:NM_007245:exon17:c.C2233T:p.R745W,ATXN2L:NM_017492:exon17:c.C2233T:p.R745W,ATXN2L:NM_145714:exon17:c.C2233T:p.R745W,ATXN2L:NM_148414:exon17:c.C2233T:p.R745W,ATXN2L:NM_148415:exon17:c.C2233T:p.R745W,ATXN2L:NM_148416:exon17:c.C2233T:p.R745W",D,N,D,T,N,T
chr16,46766443,46766443,C,T,P305087_S,MYLK3,Missense_Mutation,NM_001308301,exon3,c.G116A,p.R39H,SNP,SNVindel,exonic,MYLK3,NA,nonsynonymous SNV,"MYLK3:NM_001308301:exon3:c.G116A:p.R39H,MYLK3:NM_182493:exon4:c.G1139A:p.R380H",T,.,N,T,N,T
chr16,55705992,55705992,C,T,P305087_S,SLC6A2,Silent,NM_001172502,exon1,c.C234T,p.P78P,SNP,SNVindel,exonic,SLC6A2,NA,synonymous SNV,"SLC6A2:NM_001172502:exon1:c.C234T:p.P78P,SLC6A2:NM_001043:exon3:c.C549T:p.P183P,SLC6A2:NM_001172504:exon3:c.C549T:p.P183P,SLC6A2:NM_001172501:exon4:c.C549T:p.P183P",NA,NA,NA,NA,NA,NA
chr16,68156950,68156950,T,G,P305087_S,NFATC3,Missense_Mutation,NM_004555,exon2,c.T1164G,p.C388W,SNP,SNVindel,exonic,NFATC3,NA,nonsynonymous SNV,"NFATC3:NM_004555:exon2:c.T1164G:p.C388W,NFATC3:NM_173163:exon2:c.T1164G:p.C388W,NFATC3:NM_173165:exon2:c.T1164G:p.C388W",T,N,N,T,N,T
chr16,72984482,72984482,G,A,P305087_S,ZFHX3,Silent,NM_001164766,exon2,c.C360T,p.I120I,SNP,SNVindel,exonic,ZFHX3,NA,synonymous SNV,"ZFHX3:NM_001164766:exon2:c.C360T:p.I120I,ZFHX3:NM_006885:exon3:c.C3102T:p.I1034I",NA,NA,NA,NA,NA,NA
chr17,3336947,3336947,G,A,P305087_S,OR1E2,Silent,NM_003554,exon1,c.C189T,p.L63L,SNP,SNVindel,exonic,OR1E2,NA,synonymous SNV,OR1E2:NM_003554:exon1:c.C189T:p.L63L,NA,NA,NA,NA,NA,NA
chr17,11145370,11145370,A,G,P305087_S,SHISA6,Missense_Mutation,NM_001173461,exon1,c.A631G,p.I211V,SNP,SNVindel,exonic,SHISA6,NA,nonsynonymous SNV,"SHISA6:NM_001173461:exon1:c.A631G:p.I211V,SHISA6:NM_001173462:exon1:c.A631G:p.I211V,SHISA6:NM_207386:exon1:c.A631G:p.I211V",T,.,D,T,N,T
chr17,26898152,26898152,A,C,P305087_S,PIGS,Missense_Mutation,NM_033198,exon2,c.T89G,p.L30R,SNP,SNVindel,exonic,PIGS,NA,nonsynonymous SNV,PIGS:NM_033198:exon2:c.T89G:p.L30R,D,D,D,T,D,T
chr17,38519420,38519420,G,A,P305087_S,GJD3,Silent,NM_152219,exon1,c.C648T,p.G216G,SNP,SNVindel,exonic,GJD3,NA,synonymous SNV,GJD3:NM_152219:exon1:c.C648T:p.G216G,NA,NA,NA,NA,NA,NA
chr17,39023370,39023370,C,T,P305087_S,KRT12,Silent,NM_000223,exon1,c.G69A,p.S23S,SNP,SNVindel,exonic,KRT12,NA,synonymous SNV,KRT12:NM_000223:exon1:c.G69A:p.S23S,NA,NA,NA,NA,NA,NA
chr17,39383041,39383041,C,T,P305087_S,KRTAP9-2,Silent,NM_031961,exon1,c.C135T,p.S45S,SNP,SNVindel,exonic,KRTAP9-2,NA,synonymous SNV,KRTAP9-2:NM_031961:exon1:c.C135T:p.S45S,NA,NA,NA,NA,NA,NA
chr17,67092899,67092899,G,A,P305087_S,ABCA6,Missense_Mutation,NM_080284,exon24,c.C3164T,p.S1055F,SNP,SNVindel,exonic,ABCA6,NA,nonsynonymous SNV,ABCA6:NM_080284:exon24:c.C3164T:p.S1055F,D,D,D,D,D,D
chr17,74075418,74075418,C,T,P305087_S,ZACN,Nonsense_Mutation,NM_180990,exon1,c.C73T,p.Q25X,SNP,SNVindel,exonic,ZACN,NA,stopgain,ZACN:NM_180990:exon1:c.C73T:p.Q25X,.,N,A,.,.,.
chr18,42532538,42532538,C,T,P305087_S,SETBP1,Missense_Mutation,NM_015559,exon4,c.C3233T,p.T1078M,SNP,SNVindel,exonic,SETBP1,NA,nonsynonymous SNV,SETBP1:NM_015559:exon4:c.C3233T:p.T1078M,D,D,D,D,N,D
chr19,2078332,2078332,G,A,P305087_S,MOB3A,Silent,NM_130807,exon3,c.C228T,p.Y76Y,SNP,SNVindel,exonic,MOB3A,NA,synonymous SNV,MOB3A:NM_130807:exon3:c.C228T:p.Y76Y,NA,NA,NA,NA,NA,NA
chr19,8654220,8654220,G,A,P305087_S,ADAMTS10,Silent,NM_001282352,exon5,c.C525T,p.S175S,SNP,SNVindel,exonic,ADAMTS10,NA,synonymous SNV,"ADAMTS10:NM_001282352:exon5:c.C525T:p.S175S,ADAMTS10:NM_030957:exon18:c.C2064T:p.S688S",NA,NA,NA,NA,NA,NA
chr19,9083200,9083200,G,T,P305087_S,MUC16,Missense_Mutation,NM_024690,exon1,c.C8615A,p.A2872D,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.C8615A:p.A2872D,D,.,N,T,N,T
chr19,9083780,9083780,C,A,P305087_S,MUC16,Missense_Mutation,NM_024690,exon1,c.G8035T,p.G2679C,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.G8035T:p.G2679C,D,.,N,T,N,T
chr19,35941558,35941558,G,C,P305087_S,FFAR2,Missense_Mutation,NM_001370087,exon2,c.G942C,p.R314S,SNP,SNVindel,exonic,FFAR2,NA,nonsynonymous SNV,"FFAR2:NM_001370087:exon2:c.G942C:p.R314S,FFAR2:NM_005306:exon3:c.G942C:p.R314S",T,N,N,T,N,T
chr19,39212212,39212212,G,A,P305087_S,ACTN4,Silent,NM_001322033,exon12,c.G1326A,p.E442E,SNP,SNVindel,exonic,ACTN4,NA,synonymous SNV,"ACTN4:NM_001322033:exon12:c.G1326A:p.E442E,ACTN4:NM_004924:exon12:c.G1326A:p.E442E",NA,NA,NA,NA,NA,NA
chr19,40719763,40719763,G,A,P305087_S,MAP3K10,Missense_Mutation,NM_002446,exon9,c.G2177A,p.R726H,SNP,SNVindel,exonic,MAP3K10,NA,nonsynonymous SNV,MAP3K10:NM_002446:exon9:c.G2177A:p.R726H,D,D,D,T,N,T
chr19,50713817,50713817,C,T,P305087_S,MYH14,Silent,NM_001077186,exon2,c.C195T,p.F65F,SNP,SNVindel,exonic,MYH14,NA,synonymous SNV,"MYH14:NM_001077186:exon2:c.C195T:p.F65F,MYH14:NM_001145809:exon2:c.C195T:p.F65F,MYH14:NM_024729:exon2:c.C195T:p.F65F",NA,NA,NA,NA,NA,NA
chr19,51052030,51052030,C,T,P305087_S,LRRC4B,Silent,NM_001080457,exon2,c.G66A,p.G22G,SNP,SNVindel,exonic,LRRC4B,NA,synonymous SNV,"LRRC4B:NM_001080457:exon2:c.G66A:p.G22G,LRRC4B:NM_001348568:exon2:c.G66A:p.G22G",NA,NA,NA,NA,NA,NA
chr20,5089998,5089998,C,T,P305087_S,TMEM230,Missense_Mutation,NM_001009925,exon2,c.G79A,p.D27N,SNP,SNVindel,exonic,TMEM230,NA,nonsynonymous SNV,"TMEM230:NM_001009925:exon2:c.G79A:p.D27N,TMEM230:NM_001330985:exon2:c.G79A:p.D27N,TMEM230:NM_001330986:exon2:c.G79A:p.D27N,TMEM230:NM_001330987:exon2:c.G79A:p.D27N,TMEM230:NM_014145:exon2:c.G79A:p.D27N,TMEM230:NM_001009923:exon3:c.G268A:p.D90N,TMEM230:NM_001009924:exon3:c.G79A:p.D27N,TMEM230:NM_001330984:exon3:c.G79A:p.D27N",T,D,D,T,N,T
chr20,9319631,9319631,C,G,P305087_S,PLCB4,Missense_Mutation,NM_000933,exon4,c.C316G,p.L106V,SNP,SNVindel,exonic,PLCB4,NA,nonsynonymous SNV,"PLCB4:NM_000933:exon4:c.C316G:p.L106V,PLCB4:NM_182797:exon5:c.C316G:p.L106V,PLCB4:NM_001172646:exon6:c.C316G:p.L106V",D,D,D,T,N,T
chr20,55905043,55905043,C,T,P305087_S,SPO11,Silent,NM_012444,exon1,c.C120T,p.R40R,SNP,SNVindel,exonic,SPO11,NA,synonymous SNV,"SPO11:NM_012444:exon1:c.C120T:p.R40R,SPO11:NM_198265:exon1:c.C120T:p.R40R",NA,NA,NA,NA,NA,NA
chr20,62871243,62871243,G,A,P305087_S,MYT1,Missense_Mutation,NM_004535,exon22,c.G3224A,p.R1075H,SNP,SNVindel,exonic,MYT1,NA,nonsynonymous SNV,MYT1:NM_004535:exon22:c.G3224A:p.R1075H,D,D,D,T,D,T
chr21,41711266,41711266,G,T,P305087_S,DSCAM,Missense_Mutation,NM_001271534,exon7,c.C1287A,p.N429K,SNP,SNVindel,exonic,DSCAM,NA,nonsynonymous SNV,"DSCAM:NM_001271534:exon7:c.C1287A:p.N429K,DSCAM:NM_001389:exon7:c.C1287A:p.N429K",T,D,D,T,N,T
chr22,25620966,25620966,G,A,P305087_S,CRYBB2,Missense_Mutation,NM_000496,exon3,c.G136A,p.V46M,SNP,SNVindel,exonic,CRYBB2,NA,nonsynonymous SNV,CRYBB2:NM_000496:exon3:c.G136A:p.V46M,T,N,N,T,N,T
chr22,38038556,38038556,C,T,P305087_S,SH3BP1,Missense_Mutation,NM_001350055,exon4,c.C218T,p.P73L,SNP,SNVindel,exonic,SH3BP1,NA,nonsynonymous SNV,"SH3BP1:NM_001350055:exon4:c.C218T:p.P73L,SH3BP1:NM_018957:exon4:c.C218T:p.P73L",D,D,D,T,D,D
chr22,42377649,42377649,G,A,P305087_S,SEPTIN3,Missense_Mutation,NM_019106,exon2,c.G11A,p.G4E,SNP,SNVindel,exonic,SEPTIN3,NA,nonsynonymous SNV,"SEPTIN3:NM_019106:exon2:c.G11A:p.G4E,SEPTIN3:NM_145733:exon2:c.G11A:p.G4E,SEPTIN3:NM_001363845:exon3:c.G1505A:p.G502E",D,U,D,T,N,T
chr22,50480180,50480180,C,T,P305087_S,TTLL8,Missense_Mutation,NM_001350317,exon9,c.G808A,p.A270T,SNP,SNVindel,exonic,TTLL8,NA,nonsynonymous SNV,TTLL8:NM_001350317:exon9:c.G808A:p.A270T,D,N,N,T,D,T
chrX,25031350,25031350,G,A,P305087_S,ARX,Silent,NM_139058,exon2,c.C762T,p.D254D,SNP,SNVindel,exonic,ARX,NA,synonymous SNV,ARX:NM_139058:exon2:c.C762T:p.D254D,NA,NA,NA,NA,NA,NA
chrX,148069011,148069011,C,G,P305087_S,AFF2,Missense_Mutation,NM_001170628,exon17,c.C2661G,p.H887Q,SNP,SNVindel,exonic,AFF2,NA,nonsynonymous SNV,"AFF2:NM_001170628:exon17:c.C2661G:p.H887Q,AFF2:NM_001169122:exon19:c.C3633G:p.H1211Q,AFF2:NM_001169124:exon19:c.C3633G:p.H1211Q,AFF2:NM_001169125:exon19:c.C3621G:p.H1207Q,AFF2:NM_001169123:exon20:c.C3708G:p.H1236Q,AFF2:NM_002025:exon20:c.C3738G:p.H1246Q",D,D,D,T,D,T
chr1,16891340,16891340,T,A,P305087_S1,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,19600370,19600370,T,C,P305087_S1,AKR7L,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,AKR7L,NA,unknown,UNKNOWN,.,N,N,.,.,T
chr1,22965749,22965749,G,A,P305087_S1,C1QA,Missense_Mutation,NM_001347465,exon3,c.G587A,p.G196E,SNP,SNVindel,exonic,C1QA,NA,nonsynonymous SNV,"C1QA:NM_001347465:exon3:c.G587A:p.G196E,C1QA:NM_001347466:exon3:c.G587A:p.G196E,C1QA:NM_015991:exon3:c.G587A:p.G196E",T,N,N,T,N,T
chr1,22973963,22973963,C,T,P305087_S1,C1QC,Missense_Mutation,NM_001347620,exon2,c.C158T,p.A53V,SNP,SNVindel,exonic,C1QC,NA,nonsynonymous SNV,"C1QC:NM_001347620:exon2:c.C158T:p.A53V,C1QC:NM_001114101:exon3:c.C425T:p.A142V,C1QC:NM_001347619:exon3:c.C425T:p.A142V,C1QC:NM_172369:exon3:c.C425T:p.A142V",T,N,N,T,N,T
chr1,25124332,25124332,G,A,P305087_S1,CLIC4,Missense_Mutation,NM_013943,exon2,c.G172A,p.D58N,SNP,SNVindel,exonic,CLIC4,NA,nonsynonymous SNV,CLIC4:NM_013943:exon2:c.G172A:p.D58N,T,N,D,T,D,T
chr1,27672010,27672010,G,A,P305087_S1,SYTL1,Missense_Mutation,NM_001193308,exon2,c.G185A,p.R62Q,SNP,SNVindel,exonic,SYTL1,NA,nonsynonymous SNV,"SYTL1:NM_001193308:exon2:c.G185A:p.R62Q,SYTL1:NM_032872:exon2:c.G185A:p.R62Q",D,N,D,T,N,D
chr1,53990457,53990457,C,T,P305087_S1,GLIS1,Missense_Mutation,NM_147193,exon5,c.G1061A,p.R354H,SNP,SNVindel,exonic,GLIS1,NA,nonsynonymous SNV,"GLIS1:NM_147193:exon5:c.G1061A:p.R354H,GLIS1:NM_001367484:exon6:c.G1586A:p.R529H",D,D,D,T,D,T
chr1,62228792,62228792,A,T,P305087_S1,PATJ,Missense_Mutation,NM_001350145,exon3,c.A130T,p.S44C,SNP,SNVindel,exonic,PATJ,NA,nonsynonymous SNV,"PATJ:NM_001350145:exon3:c.A130T:p.S44C,PATJ:NM_176877:exon3:c.A130T:p.S44C",D,D,D,T,D,T
chr1,158908251,158908251,A,G,P305087_S1,PYHIN1,Silent,NM_152501,exon3,c.A330G,p.K110K,SNP,SNVindel,exonic,PYHIN1,NA,synonymous SNV,"PYHIN1:NM_152501:exon3:c.A330G:p.K110K,PYHIN1:NM_198928:exon3:c.A303G:p.K101K,PYHIN1:NM_198929:exon3:c.A330G:p.K110K,PYHIN1:NM_198930:exon3:c.A303G:p.K101K",NA,NA,NA,NA,NA,NA
chr1,185931785,185931785,C,T,P305087_S1,HMCN1,Missense_Mutation,NM_031935,exon12,c.C1964T,p.S655L,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon12:c.C1964T:p.S655L,T,D,D,T,D,T
chr1,214497998,214497998,C,T,P305087_S1,SMYD2,Silent,NM_020197,exon6,c.C549T,p.G183G,SNP,SNVindel,exonic,SMYD2,NA,synonymous SNV,SMYD2:NM_020197:exon6:c.C549T:p.G183G,NA,NA,NA,NA,NA,NA
chr2,106690371,106690371,G,A,P305087_S1,ECRG4,Missense_Mutation,NM_032411,exon3,c.G157A,p.V53I,SNP,SNVindel,exonic,ECRG4,NA,nonsynonymous SNV,ECRG4:NM_032411:exon3:c.G157A:p.V53I,T,N,N,T,N,T
chr2,162696414,162696414,C,T,P305087_S1,SLC4A10,Silent,NM_001354453,exon3,c.C246T,p.D82D,SNP,SNVindel,exonic,SLC4A10,NA,synonymous SNV,"SLC4A10:NM_001354453:exon3:c.C246T:p.D82D,SLC4A10:NM_001178015:exon4:c.C393T:p.D131D,SLC4A10:NM_001354440:exon4:c.C393T:p.D131D,SLC4A10:NM_001354444:exon4:c.C393T:p.D131D,SLC4A10:NM_001354446:exon4:c.C393T:p.D131D,SLC4A10:NM_001354449:exon4:c.C393T:p.D131D,SLC4A10:NM_001354450:exon4:c.C393T:p.D131D,SLC4A10:NM_001354451:exon4:c.C393T:p.D131D,SLC4A10:NM_022058:exon4:c.C393T:p.D131D,SLC4A10:NM_001178016:exon5:c.C426T:p.D142D,SLC4A10:NM_001354441:exon5:c.C426T:p.D142D,SLC4A10:NM_001354442:exon5:c.C426T:p.D142D,SLC4A10:NM_001354443:exon5:c.C429T:p.D143D,SLC4A10:NM_001354445:exon5:c.C426T:p.D142D,SLC4A10:NM_001354448:exon5:c.C426T:p.D142D,SLC4A10:NM_001354460:exon5:c.C429T:p.D143D,SLC4A10:NM_001354447:exon6:c.C429T:p.D143D,SLC4A10:NM_001354461:exon6:c.C429T:p.D143D",NA,NA,NA,NA,NA,NA
chr2,201478598,201478598,C,T,P305087_S1,AOX1,Missense_Mutation,NM_001159,exon15,c.C1520T,p.A507V,SNP,SNVindel,exonic,AOX1,NA,nonsynonymous SNV,AOX1:NM_001159:exon15:c.C1520T:p.A507V,T,D,D,T,D,T
chr2,211540487,211540487,C,T,P305087_S1,CPS1,Silent,NM_001875,exon36,c.C4197T,p.N1399N,SNP,SNVindel,exonic,CPS1,NA,synonymous SNV,"CPS1:NM_001875:exon36:c.C4197T:p.N1399N,CPS1:NM_001122633:exon37:c.C4197T:p.N1399N,CPS1:NM_001369256:exon37:c.C4230T:p.N1410N,CPS1:NM_001369257:exon38:c.C4197T:p.N1399N",NA,NA,NA,NA,NA,NA
chr3,4687110,4687110,C,G,P305087_S1,ITPR1,Missense_Mutation,NM_001099952,exon9,c.C664G,p.L222V,SNP,SNVindel,exonic,ITPR1,NA,nonsynonymous SNV,"ITPR1:NM_001099952:exon9:c.C664G:p.L222V,ITPR1:NM_001168272:exon9:c.C664G:p.L222V,ITPR1:NM_002222:exon9:c.C664G:p.L222V",T,D,D,D,N,D
chr3,52485518,52485518,C,G,P305087_S1,TNNC1,Missense_Mutation,NM_003280,exon5,c.G343C,p.D115H,SNP,SNVindel,exonic,TNNC1,NA,nonsynonymous SNV,TNNC1:NM_003280:exon5:c.G343C:p.D115H,T,N,D,T,N,T
chr3,108690192,108690192,A,G,P305087_S1,MORC1,Silent,NM_014429,exon25,c.T2535C,p.P845P,SNP,SNVindel,exonic,MORC1,NA,synonymous SNV,MORC1:NM_014429:exon25:c.T2535C:p.P845P,NA,NA,NA,NA,NA,NA
chr3,150460147,150460147,A,G,P305087_S1,SIAH2,Silent,NM_005067,exon2,c.T756C,p.I252I,SNP,SNVindel,exonic,SIAH2,NA,synonymous SNV,SIAH2:NM_005067:exon2:c.T756C:p.I252I,NA,NA,NA,NA,NA,NA
chr4,8229531,8229531,G,A,P305087_S1,SH3TC1,Missense_Mutation,NM_001318480,exon12,c.G1882A,p.A628T,SNP,SNVindel,exonic,SH3TC1,NA,nonsynonymous SNV,"SH3TC1:NM_001318480:exon12:c.G1882A:p.A628T,SH3TC1:NM_018986:exon12:c.G2110A:p.A704T",T,N,N,T,N,T
chr4,88732910,88732910,G,A,P305087_S1,IBSP,Missense_Mutation,NM_004967,exon7,c.G802A,p.A268T,SNP,SNVindel,exonic,IBSP,NA,nonsynonymous SNV,IBSP:NM_004967:exon7:c.G802A:p.A268T,T,N,N,T,N,T
chr4,175710035,175710035,G,A,P305087_S1,GLRA3,Missense_Mutation,NM_001042543,exon2,c.C131T,p.S44F,SNP,SNVindel,exonic,GLRA3,NA,nonsynonymous SNV,"GLRA3:NM_001042543:exon2:c.C131T:p.S44F,GLRA3:NM_006529:exon2:c.C131T:p.S44F",D,D,D,T,D,D
chr5,33461842,33461842,G,C,P305087_S1,TARS,Missense_Mutation,NM_152295,exon14,c.G1622C,p.G541A,SNP,SNVindel,exonic,TARS,NA,nonsynonymous SNV,"TARS:NM_152295:exon14:c.G1622C:p.G541A,TARS:NM_001258437:exon15:c.G1622C:p.G541A,TARS:NM_001258438:exon15:c.G1721C:p.G574A",D,D,D,T,D,D
chr5,127674749,127674749,G,A,P305087_S1,FBN2,Silent,NM_001999,exon26,c.C3348T,p.I1116I,SNP,SNVindel,exonic,FBN2,NA,synonymous SNV,FBN2:NM_001999:exon26:c.C3348T:p.I1116I,NA,NA,NA,NA,NA,NA
chr5,140573991,140573991,G,C,P305087_S1,PCDHB10,Silent,NM_018930,exon1,c.G1866C,p.G622G,SNP,SNVindel,exonic,PCDHB10,NA,synonymous SNV,PCDHB10:NM_018930:exon1:c.G1866C:p.G622G,NA,NA,NA,NA,NA,NA
chr5,140741567,140741567,G,A,P305087_S1,PCDHGB2,Missense_Mutation,NM_018923,exon1,c.G1865A,p.R622H,SNP,SNVindel,exonic,PCDHGB2,NA,nonsynonymous SNV,"PCDHGB2:NM_018923:exon1:c.G1865A:p.R622H,PCDHGB2:NM_032096:exon1:c.G1865A:p.R622H",T,.,D,T,N,T
chr5,150946696,150946696,G,A,P305087_S1,FAT2,Silent,NM_001447,exon1,c.C1797T,p.Y599Y,SNP,SNVindel,exonic,FAT2,NA,synonymous SNV,FAT2:NM_001447:exon1:c.C1797T:p.Y599Y,NA,NA,NA,NA,NA,NA
chr6,10796399,10796399,C,T,P305087_S1,MAK,Silent,NM_001242957,exon8,c.G975A,p.P325P,SNP,SNVindel,exonic,MAK,NA,synonymous SNV,"MAK:NM_001242957:exon8:c.G975A:p.P325P,MAK:NM_005906:exon8:c.G975A:p.P325P,MAK:NM_001242385:exon9:c.G975A:p.P325P",NA,NA,NA,NA,NA,NA
chr6,45405722,45405722,C,A,P305087_S1,RUNX2,Missense_Mutation,NM_001278478,exon3,c.C577A,p.P193T,SNP,SNVindel,exonic,RUNX2,NA,nonsynonymous SNV,"RUNX2:NM_001278478:exon3:c.C577A:p.P193T,RUNX2:NM_001369405:exon3:c.C577A:p.P193T,RUNX2:NM_001015051:exon5:c.C619A:p.P207T,RUNX2:NM_001024630:exon5:c.C619A:p.P207T",D,D,D,D,D,D
chr6,157100005,157100005,C,A,P305087_S1,ARID1B,Silent,NM_001346813,exon1,c.C942A,p.G314G,SNP,SNVindel,exonic,ARID1B,NA,synonymous SNV,"ARID1B:NM_001346813:exon1:c.C942A:p.G314G,ARID1B:NM_017519:exon1:c.C942A:p.G314G,ARID1B:NM_020732:exon1:c.C942A:p.G314G",NA,NA,NA,NA,NA,NA
chr7,21892229,21892229,G,A,P305087_S1,DNAH11,Missense_Mutation,NM_001277115,exon67,c.G11041A,p.V3681M,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon67:c.G11041A:p.V3681M,D,D,N,T,N,T
chr7,45148666,45148666,C,T,P305087_S1,TBRG4,Silent,NM_001261834,exon2,c.G204A,p.P68P,SNP,SNVindel,exonic,TBRG4,NA,synonymous SNV,"TBRG4:NM_001261834:exon2:c.G204A:p.P68P,TBRG4:NM_004749:exon2:c.G171A:p.P57P,TBRG4:NM_030900:exon2:c.G171A:p.P57P,TBRG4:NM_199122:exon2:c.G171A:p.P57P",NA,NA,NA,NA,NA,NA
chr7,47408854,47408854,G,A,P305087_S1,TNS3,Silent,NM_022748,exon17,c.C1389T,p.H463H,SNP,SNVindel,exonic,TNS3,NA,synonymous SNV,TNS3:NM_022748:exon17:c.C1389T:p.H463H,NA,NA,NA,NA,NA,NA
chr7,50560650,50560650,G,A,P305087_S1,DDC,Missense_Mutation,NM_001242890,exon10,c.C998T,p.A333V,SNP,SNVindel,exonic,DDC,NA,nonsynonymous SNV,DDC:NM_001242890:exon10:c.C998T:p.A333V,D,.,N,T,N,T
chr7,70255361,70255361,C,T,P305087_S1,AUTS2,Silent,NM_001127231,exon18,c.C3087T,p.S1029S,SNP,SNVindel,exonic,AUTS2,NA,synonymous SNV,"AUTS2:NM_001127231:exon18:c.C3087T:p.S1029S,AUTS2:NM_015570:exon19:c.C3159T:p.S1053S",NA,NA,NA,NA,NA,NA
chr7,142611838,142611838,C,T,P305087_S1,TRPV5,Missense_Mutation,NM_019841,exon12,c.G1491A,p.M497I,SNP,SNVindel,exonic,TRPV5,NA,nonsynonymous SNV,TRPV5:NM_019841:exon12:c.G1491A:p.M497I,T,D,D,D,N,D
chr7,143807568,143807568,G,A,P305087_S1,OR2A2,Missense_Mutation,NM_001005480,exon1,c.G893A,p.G298D,SNP,SNVindel,exonic,OR2A2,NA,nonsynonymous SNV,OR2A2:NM_001005480:exon1:c.G893A:p.G298D,D,U,N,T,D,T
chr8,95680230,95680230,C,T,P305087_S1,ESRP1,Missense_Mutation,NM_001034915,exon10,c.C985T,p.R329C,SNP,SNVindel,exonic,ESRP1,NA,nonsynonymous SNV,"ESRP1:NM_001034915:exon10:c.C985T:p.R329C,ESRP1:NM_001122825:exon10:c.C985T:p.R329C,ESRP1:NM_001122826:exon10:c.C985T:p.R329C,ESRP1:NM_001122827:exon10:c.C985T:p.R329C,ESRP1:NM_017697:exon10:c.C985T:p.R329C",D,D,D,T,D,T
chr8,110445410,110445410,T,C,P305087_S1,PKHD1L1,Missense_Mutation,NM_177531,exon28,c.T3305C,p.V1102A,SNP,SNVindel,exonic,PKHD1L1,NA,nonsynonymous SNV,PKHD1L1:NM_177531:exon28:c.T3305C:p.V1102A,D,N,N,T,D,T
chr8,121061906,121061906,C,T,P305087_S1,DEPTOR,Missense_Mutation,NM_001283012,exon7,c.C890T,p.T297M,SNP,SNVindel,exonic,DEPTOR,NA,nonsynonymous SNV,"DEPTOR:NM_001283012:exon7:c.C890T:p.T297M,DEPTOR:NM_022783:exon9:c.C1193T:p.T398M",D,D,D,T,N,T
chr8,144378950,144378950,C,T,P305087_S1,ZNF696,Missense_Mutation,NM_030895,exon3,c.C1105T,p.R369W,SNP,SNVindel,exonic,ZNF696,NA,nonsynonymous SNV,ZNF696:NM_030895:exon3:c.C1105T:p.R369W,D,.,N,T,D,T
chr8,145731768,145731768,C,T,P305087_S1,GPT,Silent,NM_005309,exon8,c.C1110T,p.P370P,SNP,SNVindel,exonic,GPT,NA,synonymous SNV,GPT:NM_005309:exon8:c.C1110T:p.P370P,NA,NA,NA,NA,NA,NA
chr9,34729356,34729356,G,A,P305087_S1,FAM205A,Silent,NM_001141917,exon1,c.C69T,p.I23I,SNP,SNVindel,exonic,FAM205A,NA,synonymous SNV,FAM205A:NM_001141917:exon1:c.C69T:p.I23I,NA,NA,NA,NA,NA,NA
chr9,112704997,112704997,A,G,P305087_S1,PALM2-AKAP2,Silent,NM_001037293,exon7,c.A432G,p.K144K,SNP,SNVindel,exonic,PALM2-AKAP2,NA,synonymous SNV,"PALM2-AKAP2:NM_001037293:exon7:c.A432G:p.K144K,PALM2-AKAP2:NM_053016:exon7:c.A528G:p.K176K",NA,NA,NA,NA,NA,NA
chr9,135418406,135418406,C,T,P305087_S1,CFAP77,Missense_Mutation,NM_001282957,exon5,c.C704T,p.T235I,SNP,SNVindel,exonic,CFAP77,NA,nonsynonymous SNV,"CFAP77:NM_001282957:exon5:c.C704T:p.T235I,CFAP77:NM_207417:exon6:c.C812T:p.T271I",D,N,N,T,N,T
chr11,69588117,69588117,G,A,P305087_S1,FGF4,Missense_Mutation,NM_002007,exon3,c.C581T,p.S194L,SNP,SNVindel,exonic,FGF4,NA,nonsynonymous SNV,FGF4:NM_002007:exon3:c.C581T:p.S194L,D,D,D,D,D,D
chr11,129993594,129993594,G,A,P305087_S1,APLP2,Missense_Mutation,NM_001142276,exon7,c.G1010A,p.R337H,SNP,SNVindel,exonic,APLP2,NA,nonsynonymous SNV,"APLP2:NM_001142276:exon7:c.G1010A:p.R337H,APLP2:NM_001243299:exon7:c.G1040A:p.R347H,APLP2:NM_001328684:exon7:c.G1010A:p.R337H,APLP2:NM_001328686:exon7:c.G911A:p.R304H,APLP2:NM_001642:exon7:c.G1010A:p.R337H",T,N,D,T,N,T
chr12,43944883,43944883,G,A,P305087_S1,ADAMTS20,Silent,NM_025003,exon2,c.C282T,p.T94T,SNP,SNVindel,exonic,ADAMTS20,NA,synonymous SNV,ADAMTS20:NM_025003:exon2:c.C282T:p.T94T,NA,NA,NA,NA,NA,NA
chr12,51675283,51675283,T,C,P305087_S1,BIN2,Nonstop_Mutation,NM_001364781,exon11,c.A1536G,p.X512W,SNP,SNVindel,exonic,BIN2,NA,stoploss,"BIN2:NM_001364781:exon11:c.A1536G:p.X512W,BIN2:NM_001290008:exon12:c.A1602G:p.X534W,BIN2:NM_001290009:exon12:c.A1326G:p.X442W,BIN2:NM_001364780:exon12:c.A1617G:p.X539W,BIN2:NM_001290007:exon13:c.A1620G:p.X540W,BIN2:NM_001364779:exon13:c.A1695G:p.X565W,BIN2:NM_016293:exon13:c.A1698G:p.X566W",.,.,N,.,.,.
chr12,72956647,72956647,T,A,P305087_S1,TRHDE,Missense_Mutation,NM_013381,exon9,c.T1734A,p.N578K,SNP,SNVindel,exonic,TRHDE,NA,nonsynonymous SNV,TRHDE:NM_013381:exon9:c.T1734A:p.N578K,T,D,D,T,N,T
chr12,100200345,100200345,G,C,P305087_S1,ANKS1B,Missense_Mutation,NM_001352185,exon4,c.C506G,p.A169G,SNP,SNVindel,exonic,ANKS1B,NA,nonsynonymous SNV,"ANKS1B:NM_001352185:exon4:c.C506G:p.A169G,ANKS1B:NM_001352186:exon4:c.C506G:p.A169G,ANKS1B:NM_001352187:exon4:c.C506G:p.A169G,ANKS1B:NM_001352188:exon4:c.C506G:p.A169G,ANKS1B:NM_152788:exon4:c.C506G:p.A169G",D,D,D,T,N,D
chr13,39588483,39588483,G,A,P305087_S1,PROSER1,Silent,NM_170719,exon10,c.C840T,p.T280T,SNP,SNVindel,exonic,PROSER1,NA,synonymous SNV,"PROSER1:NM_170719:exon10:c.C840T:p.T280T,PROSER1:NM_025138:exon11:c.C906T:p.T302T",NA,NA,NA,NA,NA,NA
chr13,98666453,98666453,G,A,P305087_S1,IPO5,Missense_Mutation,NM_002271,exon22,c.G2310A,p.M770I,SNP,SNVindel,exonic,IPO5,NA,nonsynonymous SNV,IPO5:NM_002271:exon22:c.G2310A:p.M770I,T,D,D,T,N,T
chr14,74874249,74874249,C,T,P305087_S1,SYNDIG1L,Missense_Mutation,NM_001105579,exon4,c.G706A,p.G236S,SNP,SNVindel,exonic,SYNDIG1L,NA,nonsynonymous SNV,SYNDIG1L:NM_001105579:exon4:c.G706A:p.G236S,T,N,D,D,N,D
chr14,105644054,105644054,A,G,P305087_S1,NUDT14,Missense_Mutation,NM_001318380,exon2,c.T100C,p.W34R,SNP,SNVindel,exonic,NUDT14,NA,nonsynonymous SNV,"NUDT14:NM_001318380:exon2:c.T100C:p.W34R,NUDT14:NM_177533:exon2:c.T100C:p.W34R",D,D,D,T,D,T
chr15,31329941,31329941,C,T,P305087_S1,TRPM1,Silent,NM_001252020,exon19,c.G2595A,p.A865A,SNP,SNVindel,exonic,TRPM1,NA,synonymous SNV,"TRPM1:NM_001252020:exon19:c.G2595A:p.A865A,TRPM1:NM_002420:exon19:c.G2478A:p.A826A,TRPM1:NM_001252024:exon20:c.G2544A:p.A848A",NA,NA,NA,NA,NA,NA
chr15,42373704,42373704,C,A,P305087_S1,PLA2G4D,Missense_Mutation,NM_178034,exon11,c.G930T,p.Q310H,SNP,SNVindel,exonic,PLA2G4D,NA,nonsynonymous SNV,PLA2G4D:NM_178034:exon11:c.G930T:p.Q310H,T,N,D,T,N,T
chr15,65793095,65793095,T,G,P305087_S1,DPP8,Missense_Mutation,NM_001320876,exon4,c.A395C,p.Y132S,SNP,SNVindel,exonic,DPP8,NA,nonsynonymous SNV,"DPP8:NM_001320876:exon4:c.A395C:p.Y132S,DPP8:NM_017743:exon4:c.A395C:p.Y132S,DPP8:NM_130434:exon4:c.A395C:p.Y132S,DPP8:NM_001320875:exon5:c.A443C:p.Y148S,DPP8:NM_197960:exon5:c.A443C:p.Y148S,DPP8:NM_197961:exon5:c.A443C:p.Y148S",D,D,D,T,D,T
chr16,2522188,2522188,T,A,P305087_S1,NTN3,Silent,NM_006181,exon1,c.T486A,p.P162P,SNP,SNVindel,exonic,NTN3,NA,synonymous SNV,NTN3:NM_006181:exon1:c.T486A:p.P162P,NA,NA,NA,NA,NA,NA
chr16,28845724,28845724,C,T,P305087_S1,ATXN2L,Missense_Mutation,NM_001308230,exon17,c.C2251T,p.R751W,SNP,SNVindel,exonic,ATXN2L,NA,nonsynonymous SNV,"ATXN2L:NM_001308230:exon17:c.C2251T:p.R751W,ATXN2L:NM_007245:exon17:c.C2233T:p.R745W,ATXN2L:NM_017492:exon17:c.C2233T:p.R745W,ATXN2L:NM_145714:exon17:c.C2233T:p.R745W,ATXN2L:NM_148414:exon17:c.C2233T:p.R745W,ATXN2L:NM_148415:exon17:c.C2233T:p.R745W,ATXN2L:NM_148416:exon17:c.C2233T:p.R745W",D,N,D,T,N,T
chr16,46766443,46766443,C,T,P305087_S1,MYLK3,Missense_Mutation,NM_001308301,exon3,c.G116A,p.R39H,SNP,SNVindel,exonic,MYLK3,NA,nonsynonymous SNV,"MYLK3:NM_001308301:exon3:c.G116A:p.R39H,MYLK3:NM_182493:exon4:c.G1139A:p.R380H",T,.,N,T,N,T
chr16,55705992,55705992,C,T,P305087_S1,SLC6A2,Silent,NM_001172502,exon1,c.C234T,p.P78P,SNP,SNVindel,exonic,SLC6A2,NA,synonymous SNV,"SLC6A2:NM_001172502:exon1:c.C234T:p.P78P,SLC6A2:NM_001043:exon3:c.C549T:p.P183P,SLC6A2:NM_001172504:exon3:c.C549T:p.P183P,SLC6A2:NM_001172501:exon4:c.C549T:p.P183P",NA,NA,NA,NA,NA,NA
chr16,68156950,68156950,T,G,P305087_S1,NFATC3,Missense_Mutation,NM_004555,exon2,c.T1164G,p.C388W,SNP,SNVindel,exonic,NFATC3,NA,nonsynonymous SNV,"NFATC3:NM_004555:exon2:c.T1164G:p.C388W,NFATC3:NM_173163:exon2:c.T1164G:p.C388W,NFATC3:NM_173165:exon2:c.T1164G:p.C388W",T,N,N,T,N,T
chr17,3336947,3336947,G,A,P305087_S1,OR1E2,Silent,NM_003554,exon1,c.C189T,p.L63L,SNP,SNVindel,exonic,OR1E2,NA,synonymous SNV,OR1E2:NM_003554:exon1:c.C189T:p.L63L,NA,NA,NA,NA,NA,NA
chr17,39023370,39023370,C,T,P305087_S1,KRT12,Silent,NM_000223,exon1,c.G69A,p.S23S,SNP,SNVindel,exonic,KRT12,NA,synonymous SNV,KRT12:NM_000223:exon1:c.G69A:p.S23S,NA,NA,NA,NA,NA,NA
chr17,67092899,67092899,G,A,P305087_S1,ABCA6,Missense_Mutation,NM_080284,exon24,c.C3164T,p.S1055F,SNP,SNVindel,exonic,ABCA6,NA,nonsynonymous SNV,ABCA6:NM_080284:exon24:c.C3164T:p.S1055F,D,D,D,D,D,D
chr17,74075418,74075418,C,T,P305087_S1,ZACN,Nonsense_Mutation,NM_180990,exon1,c.C73T,p.Q25X,SNP,SNVindel,exonic,ZACN,NA,stopgain,ZACN:NM_180990:exon1:c.C73T:p.Q25X,.,N,A,.,.,.
chr19,2078332,2078332,G,A,P305087_S1,MOB3A,Silent,NM_130807,exon3,c.C228T,p.Y76Y,SNP,SNVindel,exonic,MOB3A,NA,synonymous SNV,MOB3A:NM_130807:exon3:c.C228T:p.Y76Y,NA,NA,NA,NA,NA,NA
chr19,8654220,8654220,G,A,P305087_S1,ADAMTS10,Silent,NM_001282352,exon5,c.C525T,p.S175S,SNP,SNVindel,exonic,ADAMTS10,NA,synonymous SNV,"ADAMTS10:NM_001282352:exon5:c.C525T:p.S175S,ADAMTS10:NM_030957:exon18:c.C2064T:p.S688S",NA,NA,NA,NA,NA,NA
chr19,9083780,9083780,C,A,P305087_S1,MUC16,Missense_Mutation,NM_024690,exon1,c.G8035T,p.G2679C,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.G8035T:p.G2679C,D,.,N,T,N,T
chr19,35941558,35941558,G,C,P305087_S1,FFAR2,Missense_Mutation,NM_001370087,exon2,c.G942C,p.R314S,SNP,SNVindel,exonic,FFAR2,NA,nonsynonymous SNV,"FFAR2:NM_001370087:exon2:c.G942C:p.R314S,FFAR2:NM_005306:exon3:c.G942C:p.R314S",T,N,N,T,N,T
chr19,39212212,39212212,G,A,P305087_S1,ACTN4,Silent,NM_001322033,exon12,c.G1326A,p.E442E,SNP,SNVindel,exonic,ACTN4,NA,synonymous SNV,"ACTN4:NM_001322033:exon12:c.G1326A:p.E442E,ACTN4:NM_004924:exon12:c.G1326A:p.E442E",NA,NA,NA,NA,NA,NA
chr19,40719763,40719763,G,A,P305087_S1,MAP3K10,Missense_Mutation,NM_002446,exon9,c.G2177A,p.R726H,SNP,SNVindel,exonic,MAP3K10,NA,nonsynonymous SNV,MAP3K10:NM_002446:exon9:c.G2177A:p.R726H,D,D,D,T,N,T
chr19,50713817,50713817,C,T,P305087_S1,MYH14,Silent,NM_001077186,exon2,c.C195T,p.F65F,SNP,SNVindel,exonic,MYH14,NA,synonymous SNV,"MYH14:NM_001077186:exon2:c.C195T:p.F65F,MYH14:NM_001145809:exon2:c.C195T:p.F65F,MYH14:NM_024729:exon2:c.C195T:p.F65F",NA,NA,NA,NA,NA,NA
chr20,55905043,55905043,C,T,P305087_S1,SPO11,Silent,NM_012444,exon1,c.C120T,p.R40R,SNP,SNVindel,exonic,SPO11,NA,synonymous SNV,"SPO11:NM_012444:exon1:c.C120T:p.R40R,SPO11:NM_198265:exon1:c.C120T:p.R40R",NA,NA,NA,NA,NA,NA
chr20,62871243,62871243,G,A,P305087_S1,MYT1,Missense_Mutation,NM_004535,exon22,c.G3224A,p.R1075H,SNP,SNVindel,exonic,MYT1,NA,nonsynonymous SNV,MYT1:NM_004535:exon22:c.G3224A:p.R1075H,D,D,D,T,D,T
chr21,41711266,41711266,G,T,P305087_S1,DSCAM,Missense_Mutation,NM_001271534,exon7,c.C1287A,p.N429K,SNP,SNVindel,exonic,DSCAM,NA,nonsynonymous SNV,"DSCAM:NM_001271534:exon7:c.C1287A:p.N429K,DSCAM:NM_001389:exon7:c.C1287A:p.N429K",T,D,D,T,N,T
chr22,25620966,25620966,G,A,P305087_S1,CRYBB2,Missense_Mutation,NM_000496,exon3,c.G136A,p.V46M,SNP,SNVindel,exonic,CRYBB2,NA,nonsynonymous SNV,CRYBB2:NM_000496:exon3:c.G136A:p.V46M,T,N,N,T,N,T
chr22,38038556,38038556,C,T,P305087_S1,SH3BP1,Missense_Mutation,NM_001350055,exon4,c.C218T,p.P73L,SNP,SNVindel,exonic,SH3BP1,NA,nonsynonymous SNV,"SH3BP1:NM_001350055:exon4:c.C218T:p.P73L,SH3BP1:NM_018957:exon4:c.C218T:p.P73L",D,D,D,T,D,D
chr22,42377649,42377649,G,A,P305087_S1,SEPTIN3,Missense_Mutation,NM_019106,exon2,c.G11A,p.G4E,SNP,SNVindel,exonic,SEPTIN3,NA,nonsynonymous SNV,"SEPTIN3:NM_019106:exon2:c.G11A:p.G4E,SEPTIN3:NM_145733:exon2:c.G11A:p.G4E,SEPTIN3:NM_001363845:exon3:c.G1505A:p.G502E",D,U,D,T,N,T
chr22,50480180,50480180,C,T,P305087_S1,TTLL8,Missense_Mutation,NM_001350317,exon9,c.G808A,p.A270T,SNP,SNVindel,exonic,TTLL8,NA,nonsynonymous SNV,TTLL8:NM_001350317:exon9:c.G808A:p.A270T,D,N,N,T,D,T
chrX,25031350,25031350,G,A,P305087_S1,ARX,Silent,NM_139058,exon2,c.C762T,p.D254D,SNP,SNVindel,exonic,ARX,NA,synonymous SNV,ARX:NM_139058:exon2:c.C762T:p.D254D,NA,NA,NA,NA,NA,NA
chrX,114426790,114426790,G,T,P305087_S1,RBMXL3,Missense_Mutation,NM_001145346,exon1,c.G2786T,p.G929V,SNP,SNVindel,exonic,RBMXL3,NA,nonsynonymous SNV,RBMXL3:NM_001145346:exon1:c.G2786T:p.G929V,D,.,N,T,N,T
chrX,124456199,124456199,T,C,P305087_S1,TEX13C,Missense_Mutation,NM_001195272,exon1,c.T2231C,p.M744T,SNP,SNVindel,exonic,TEX13C,NA,nonsynonymous SNV,TEX13C:NM_001195272:exon1:c.T2231C:p.M744T,NA,NA,NA,NA,NA,NA
chrX,148069011,148069011,C,G,P305087_S1,AFF2,Missense_Mutation,NM_001170628,exon17,c.C2661G,p.H887Q,SNP,SNVindel,exonic,AFF2,NA,nonsynonymous SNV,"AFF2:NM_001170628:exon17:c.C2661G:p.H887Q,AFF2:NM_001169122:exon19:c.C3633G:p.H1211Q,AFF2:NM_001169124:exon19:c.C3633G:p.H1211Q,AFF2:NM_001169125:exon19:c.C3621G:p.H1207Q,AFF2:NM_001169123:exon20:c.C3708G:p.H1236Q,AFF2:NM_002025:exon20:c.C3738G:p.H1246Q",D,D,D,T,D,T
chr1,16891340,16891340,T,A,P305087_T,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,22965749,22965749,G,A,P305087_T,C1QA,Missense_Mutation,NM_001347465,exon3,c.G587A,p.G196E,SNP,SNVindel,exonic,C1QA,NA,nonsynonymous SNV,"C1QA:NM_001347465:exon3:c.G587A:p.G196E,C1QA:NM_001347466:exon3:c.G587A:p.G196E,C1QA:NM_015991:exon3:c.G587A:p.G196E",T,N,N,T,N,T
chr1,22973963,22973963,C,T,P305087_T,C1QC,Missense_Mutation,NM_001347620,exon2,c.C158T,p.A53V,SNP,SNVindel,exonic,C1QC,NA,nonsynonymous SNV,"C1QC:NM_001347620:exon2:c.C158T:p.A53V,C1QC:NM_001114101:exon3:c.C425T:p.A142V,C1QC:NM_001347619:exon3:c.C425T:p.A142V,C1QC:NM_172369:exon3:c.C425T:p.A142V",T,N,N,T,N,T
chr1,27672010,27672010,G,A,P305087_T,SYTL1,Missense_Mutation,NM_001193308,exon2,c.G185A,p.R62Q,SNP,SNVindel,exonic,SYTL1,NA,nonsynonymous SNV,"SYTL1:NM_001193308:exon2:c.G185A:p.R62Q,SYTL1:NM_032872:exon2:c.G185A:p.R62Q",D,N,D,T,N,D
chr1,29391589,29391589,T,C,P305087_T,EPB41,Silent,NM_203343,exon12,c.T1836C,p.P612P,SNP,SNVindel,exonic,EPB41,NA,synonymous SNV,"EPB41:NM_203343:exon12:c.T1836C:p.P612P,EPB41:NM_001166007:exon13:c.T1314C:p.P438P,EPB41:NM_001166006:exon15:c.T2061C:p.P687P,EPB41:NM_004437:exon15:c.T1377C:p.P459P,EPB41:NM_001166005:exon16:c.T2103C:p.P701P,EPB41:NM_203342:exon16:c.T1434C:p.P478P",NA,NA,NA,NA,NA,NA
chr1,158908251,158908251,A,G,P305087_T,PYHIN1,Silent,NM_152501,exon3,c.A330G,p.K110K,SNP,SNVindel,exonic,PYHIN1,NA,synonymous SNV,"PYHIN1:NM_152501:exon3:c.A330G:p.K110K,PYHIN1:NM_198928:exon3:c.A303G:p.K101K,PYHIN1:NM_198929:exon3:c.A330G:p.K110K,PYHIN1:NM_198930:exon3:c.A303G:p.K101K",NA,NA,NA,NA,NA,NA
chr1,185931785,185931785,C,T,P305087_T,HMCN1,Missense_Mutation,NM_031935,exon12,c.C1964T,p.S655L,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon12:c.C1964T:p.S655L,T,D,D,T,D,T
chr1,196759282,196759282,C,T,P305087_T,CFHR3,Missense_Mutation,NM_001166624,exon4,c.C538T,p.P180S,SNP,SNVindel,exonic,CFHR3,NA,nonsynonymous SNV,"CFHR3:NM_001166624:exon4:c.C538T:p.P180S,CFHR3:NM_021023:exon5:c.C721T:p.P241S",T,.,P,T,N,T
chr1,207297704,207297704,C,A,P305087_T,C4BPA,Silent,NM_000715,exon6,c.C699A,p.T233T,SNP,SNVindel,exonic,C4BPA,NA,synonymous SNV,C4BPA:NM_000715:exon6:c.C699A:p.T233T,NA,NA,NA,NA,NA,NA
chr1,228346067,228346067,G,A,P305087_T,GJC2,Missense_Mutation,NM_020435,exon2,c.G608A,p.R203H,SNP,SNVindel,exonic,GJC2,NA,nonsynonymous SNV,GJC2:NM_020435:exon2:c.G608A:p.R203H,D,D,D,D,D,D
chr2,45826752,45826752,C,T,P305087_T,SRBD1,Missense_Mutation,NM_018079,exon4,c.G484A,p.G162R,SNP,SNVindel,exonic,SRBD1,NA,nonsynonymous SNV,SRBD1:NM_018079:exon4:c.G484A:p.G162R,T,N,N,T,N,T
chr2,106690371,106690371,G,A,P305087_T,ECRG4,Missense_Mutation,NM_032411,exon3,c.G157A,p.V53I,SNP,SNVindel,exonic,ECRG4,NA,nonsynonymous SNV,ECRG4:NM_032411:exon3:c.G157A:p.V53I,T,N,N,T,N,T
chr2,116066836,116066836,C,A,P305087_T,DPP10,Missense_Mutation,NM_001004360,exon2,c.C61A,p.P21T,SNP,SNVindel,exonic,DPP10,NA,nonsynonymous SNV,"DPP10:NM_001004360:exon2:c.C61A:p.P21T,DPP10:NM_001178034:exon2:c.C94A:p.P32T,DPP10:NM_001178037:exon2:c.C70A:p.P24T,DPP10:NM_001321909:exon2:c.C61A:p.P21T,DPP10:NM_001321905:exon3:c.C133A:p.P45T,DPP10:NM_001321906:exon3:c.C61A:p.P21T",D,D,D,T,D,T
chr2,158412821,158412821,C,T,P305087_T,ACVR1C,Missense_Mutation,NM_001111031,exon3,c.G178A,p.G60R,SNP,SNVindel,exonic,ACVR1C,NA,nonsynonymous SNV,"ACVR1C:NM_001111031:exon3:c.G178A:p.G60R,ACVR1C:NM_145259:exon3:c.G328A:p.G110R",D,D,D,D,D,T
chr2,162696414,162696414,C,T,P305087_T,SLC4A10,Silent,NM_001354453,exon3,c.C246T,p.D82D,SNP,SNVindel,exonic,SLC4A10,NA,synonymous SNV,"SLC4A10:NM_001354453:exon3:c.C246T:p.D82D,SLC4A10:NM_001178015:exon4:c.C393T:p.D131D,SLC4A10:NM_001354440:exon4:c.C393T:p.D131D,SLC4A10:NM_001354444:exon4:c.C393T:p.D131D,SLC4A10:NM_001354446:exon4:c.C393T:p.D131D,SLC4A10:NM_001354449:exon4:c.C393T:p.D131D,SLC4A10:NM_001354450:exon4:c.C393T:p.D131D,SLC4A10:NM_001354451:exon4:c.C393T:p.D131D,SLC4A10:NM_022058:exon4:c.C393T:p.D131D,SLC4A10:NM_001178016:exon5:c.C426T:p.D142D,SLC4A10:NM_001354441:exon5:c.C426T:p.D142D,SLC4A10:NM_001354442:exon5:c.C426T:p.D142D,SLC4A10:NM_001354443:exon5:c.C429T:p.D143D,SLC4A10:NM_001354445:exon5:c.C426T:p.D142D,SLC4A10:NM_001354448:exon5:c.C426T:p.D142D,SLC4A10:NM_001354460:exon5:c.C429T:p.D143D,SLC4A10:NM_001354447:exon6:c.C429T:p.D143D,SLC4A10:NM_001354461:exon6:c.C429T:p.D143D",NA,NA,NA,NA,NA,NA
chr2,163059595,163059595,C,T,P305087_T,FAP,Missense_Mutation,NM_001291807,exon12,c.G1033A,p.D345N,SNP,SNVindel,exonic,FAP,NA,nonsynonymous SNV,"FAP:NM_001291807:exon12:c.G1033A:p.D345N,FAP:NM_004460:exon13:c.G1108A:p.D370N",T,D,D,D,N,D
chr2,201478598,201478598,C,T,P305087_T,AOX1,Missense_Mutation,NM_001159,exon15,c.C1520T,p.A507V,SNP,SNVindel,exonic,AOX1,NA,nonsynonymous SNV,AOX1:NM_001159:exon15:c.C1520T:p.A507V,T,D,D,T,D,T
chr2,208693139,208693139,C,T,P305087_T,PLEKHM3,Silent,NM_001080475,exon8,c.G2190A,p.L730L,SNP,SNVindel,exonic,PLEKHM3,NA,synonymous SNV,PLEKHM3:NM_001080475:exon8:c.G2190A:p.L730L,NA,NA,NA,NA,NA,NA
chr2,211540487,211540487,C,T,P305087_T,CPS1,Silent,NM_001875,exon36,c.C4197T,p.N1399N,SNP,SNVindel,exonic,CPS1,NA,synonymous SNV,"CPS1:NM_001875:exon36:c.C4197T:p.N1399N,CPS1:NM_001122633:exon37:c.C4197T:p.N1399N,CPS1:NM_001369256:exon37:c.C4230T:p.N1410N,CPS1:NM_001369257:exon38:c.C4197T:p.N1399N",NA,NA,NA,NA,NA,NA
chr3,4687110,4687110,C,G,P305087_T,ITPR1,Missense_Mutation,NM_001099952,exon9,c.C664G,p.L222V,SNP,SNVindel,exonic,ITPR1,NA,nonsynonymous SNV,"ITPR1:NM_001099952:exon9:c.C664G:p.L222V,ITPR1:NM_001168272:exon9:c.C664G:p.L222V,ITPR1:NM_002222:exon9:c.C664G:p.L222V",T,D,D,D,N,D
chr3,49213227,49213227,G,C,P305087_T,KLHDC8B,Missense_Mutation,NM_173546,exon6,c.G1058C,p.G353A,SNP,SNVindel,exonic,KLHDC8B,NA,nonsynonymous SNV,KLHDC8B:NM_173546:exon6:c.G1058C:p.G353A,D,N,N,T,N,T
chr3,97851860,97851860,A,G,P305087_T,OR5H1,Missense_Mutation,NM_001005338,exon1,c.A319G,p.S107G,SNP,SNVindel,exonic,OR5H1,NA,nonsynonymous SNV,OR5H1:NM_001005338:exon1:c.A319G:p.S107G,T,N,N,T,N,T
chr3,108690192,108690192,A,G,P305087_T,MORC1,Silent,NM_014429,exon25,c.T2535C,p.P845P,SNP,SNVindel,exonic,MORC1,NA,synonymous SNV,MORC1:NM_014429:exon25:c.T2535C:p.P845P,NA,NA,NA,NA,NA,NA
chr3,150421527,150421527,C,T,P305087_T,ERICH6,Silent,NM_152394,exon1,c.G159A,p.E53E,SNP,SNVindel,exonic,ERICH6,NA,synonymous SNV,ERICH6:NM_152394:exon1:c.G159A:p.E53E,NA,NA,NA,NA,NA,NA
chr3,164764688,164764688,C,T,P305087_T,SI,Missense_Mutation,NM_001041,exon16,c.G1828A,p.E610K,SNP,SNVindel,exonic,SI,NA,nonsynonymous SNV,SI:NM_001041:exon16:c.G1828A:p.E610K,T,D,D,D,N,D
chr3,196554112,196554112,C,G,P305087_T,PAK2,Missense_Mutation,NM_002577,exon14,c.C1396G,p.P466A,SNP,SNVindel,exonic,PAK2,NA,nonsynonymous SNV,PAK2:NM_002577:exon14:c.C1396G:p.P466A,D,D,D,T,D,T
chr4,17636636,17636636,A,T,P305087_T,FAM184B,Missense_Mutation,NM_015688,exon16,c.T2885A,p.M962K,SNP,SNVindel,exonic,FAM184B,NA,nonsynonymous SNV,FAM184B:NM_015688:exon16:c.T2885A:p.M962K,D,D,D,T,N,T
chr4,30724677,30724677,C,T,P305087_T,PCDH7,Missense_Mutation,NM_001173523,exon1,c.C1633T,p.P545S,SNP,SNVindel,exonic,PCDH7,NA,nonsynonymous SNV,"PCDH7:NM_001173523:exon1:c.C1633T:p.P545S,PCDH7:NM_002589:exon1:c.C1633T:p.P545S,PCDH7:NM_032456:exon1:c.C1633T:p.P545S,PCDH7:NM_032457:exon1:c.C1633T:p.P545S",T,.,D,T,D,T
chr4,88732910,88732910,G,A,P305087_T,IBSP,Missense_Mutation,NM_004967,exon7,c.G802A,p.A268T,SNP,SNVindel,exonic,IBSP,NA,nonsynonymous SNV,IBSP:NM_004967:exon7:c.G802A:p.A268T,T,N,N,T,N,T
chr4,138452480,138452480,G,C,P305087_T,PCDH18,Missense_Mutation,NM_001300828,exon1,c.C763G,p.L255V,SNP,SNVindel,exonic,PCDH18,NA,nonsynonymous SNV,"PCDH18:NM_001300828:exon1:c.C763G:p.L255V,PCDH18:NM_019035:exon1:c.C763G:p.L255V",T,U,D,T,N,T
chr4,166385666,166385666,C,A,P305087_T,CPE,Missense_Mutation,NM_001873,exon2,c.C432A,p.N144K,SNP,SNVindel,exonic,CPE,NA,nonsynonymous SNV,CPE:NM_001873:exon2:c.C432A:p.N144K,T,N,D,T,N,T
chr4,175710035,175710035,G,A,P305087_T,GLRA3,Missense_Mutation,NM_001042543,exon2,c.C131T,p.S44F,SNP,SNVindel,exonic,GLRA3,NA,nonsynonymous SNV,"GLRA3:NM_001042543:exon2:c.C131T:p.S44F,GLRA3:NM_006529:exon2:c.C131T:p.S44F",D,D,D,T,D,D
chr5,33461842,33461842,G,C,P305087_T,TARS,Missense_Mutation,NM_152295,exon14,c.G1622C,p.G541A,SNP,SNVindel,exonic,TARS,NA,nonsynonymous SNV,"TARS:NM_152295:exon14:c.G1622C:p.G541A,TARS:NM_001258437:exon15:c.G1622C:p.G541A,TARS:NM_001258438:exon15:c.G1721C:p.G574A",D,D,D,T,D,D
chr5,127674749,127674749,G,A,P305087_T,FBN2,Silent,NM_001999,exon26,c.C3348T,p.I1116I,SNP,SNVindel,exonic,FBN2,NA,synonymous SNV,FBN2:NM_001999:exon26:c.C3348T:p.I1116I,NA,NA,NA,NA,NA,NA
chr5,140741567,140741567,G,A,P305087_T,PCDHGB2,Missense_Mutation,NM_018923,exon1,c.G1865A,p.R622H,SNP,SNVindel,exonic,PCDHGB2,NA,nonsynonymous SNV,"PCDHGB2:NM_018923:exon1:c.G1865A:p.R622H,PCDHGB2:NM_032096:exon1:c.G1865A:p.R622H",T,.,D,T,N,T
chr5,145509626,145509626,T,A,P305087_T,LARS,Silent,NM_001317964,exon24,c.A2445T,p.P815P,SNP,SNVindel,exonic,LARS,NA,synonymous SNV,"LARS:NM_001317964:exon24:c.A2445T:p.P815P,LARS:NM_001317965:exon24:c.A2421T:p.P807P,LARS:NM_016460:exon24:c.A2502T:p.P834P,LARS:NM_020117:exon25:c.A2583T:p.P861P",NA,NA,NA,NA,NA,NA
chr5,150946696,150946696,G,A,P305087_T,FAT2,Silent,NM_001447,exon1,c.C1797T,p.Y599Y,SNP,SNVindel,exonic,FAT2,NA,synonymous SNV,FAT2:NM_001447:exon1:c.C1797T:p.Y599Y,NA,NA,NA,NA,NA,NA
chr5,178549715,178549715,G,A,P305087_T,ADAMTS2,Silent,NM_014244,exon20,c.C3018T,p.D1006D,SNP,SNVindel,exonic,ADAMTS2,NA,synonymous SNV,ADAMTS2:NM_014244:exon20:c.C3018T:p.D1006D,NA,NA,NA,NA,NA,NA
chr6,1390895,1390895,A,G,P305087_T,FOXF2,Missense_Mutation,NM_001452,exon1,c.A713G,p.H238R,SNP,SNVindel,exonic,FOXF2,NA,nonsynonymous SNV,FOXF2:NM_001452:exon1:c.A713G:p.H238R,D,N,D,D,N,T
chr6,10796399,10796399,C,T,P305087_T,MAK,Silent,NM_001242957,exon8,c.G975A,p.P325P,SNP,SNVindel,exonic,MAK,NA,synonymous SNV,"MAK:NM_001242957:exon8:c.G975A:p.P325P,MAK:NM_005906:exon8:c.G975A:p.P325P,MAK:NM_001242385:exon9:c.G975A:p.P325P",NA,NA,NA,NA,NA,NA
chr6,45405722,45405722,C,A,P305087_T,RUNX2,Missense_Mutation,NM_001278478,exon3,c.C577A,p.P193T,SNP,SNVindel,exonic,RUNX2,NA,nonsynonymous SNV,"RUNX2:NM_001278478:exon3:c.C577A:p.P193T,RUNX2:NM_001369405:exon3:c.C577A:p.P193T,RUNX2:NM_001015051:exon5:c.C619A:p.P207T,RUNX2:NM_001024630:exon5:c.C619A:p.P207T",D,D,D,D,D,D
chr6,50810931,50810931,C,T,P305087_T,TFAP2B,Silent,NM_003221,exon7,c.C1209T,p.H403H,SNP,SNVindel,exonic,TFAP2B,NA,synonymous SNV,TFAP2B:NM_003221:exon7:c.C1209T:p.H403H,NA,NA,NA,NA,NA,NA
chr6,53139902,53139902,A,C,P305087_T,ELOVL5,Missense_Mutation,NM_001242830,exon5,c.T482G,p.V161G,SNP,SNVindel,exonic,ELOVL5,NA,nonsynonymous SNV,"ELOVL5:NM_001242830:exon5:c.T482G:p.V161G,ELOVL5:NM_001301856:exon5:c.T482G:p.V161G,ELOVL5:NM_021814:exon5:c.T482G:p.V161G,ELOVL5:NM_001242828:exon6:c.T563G:p.V188G",D,D,D,T,D,T
chr6,109771594,109771594,G,T,P305087_T,MICAL1,Missense_Mutation,NM_001286613,exon8,c.C1157A,p.T386K,SNP,SNVindel,exonic,MICAL1,NA,nonsynonymous SNV,"MICAL1:NM_001286613:exon8:c.C1157A:p.T386K,MICAL1:NM_022765:exon8:c.C1100A:p.T367K",D,D,D,T,D,T
chr7,21892229,21892229,G,A,P305087_T,DNAH11,Missense_Mutation,NM_001277115,exon67,c.G11041A,p.V3681M,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon67:c.G11041A:p.V3681M,D,D,N,T,N,T
chr7,45148666,45148666,C,T,P305087_T,TBRG4,Silent,NM_001261834,exon2,c.G204A,p.P68P,SNP,SNVindel,exonic,TBRG4,NA,synonymous SNV,"TBRG4:NM_001261834:exon2:c.G204A:p.P68P,TBRG4:NM_004749:exon2:c.G171A:p.P57P,TBRG4:NM_030900:exon2:c.G171A:p.P57P,TBRG4:NM_199122:exon2:c.G171A:p.P57P",NA,NA,NA,NA,NA,NA
chr7,47408854,47408854,G,A,P305087_T,TNS3,Silent,NM_022748,exon17,c.C1389T,p.H463H,SNP,SNVindel,exonic,TNS3,NA,synonymous SNV,TNS3:NM_022748:exon17:c.C1389T:p.H463H,NA,NA,NA,NA,NA,NA
chr7,50560650,50560650,G,A,P305087_T,DDC,Missense_Mutation,NM_001242890,exon10,c.C998T,p.A333V,SNP,SNVindel,exonic,DDC,NA,nonsynonymous SNV,DDC:NM_001242890:exon10:c.C998T:p.A333V,D,.,N,T,N,T
chr7,70255361,70255361,C,T,P305087_T,AUTS2,Silent,NM_001127231,exon18,c.C3087T,p.S1029S,SNP,SNVindel,exonic,AUTS2,NA,synonymous SNV,"AUTS2:NM_001127231:exon18:c.C3087T:p.S1029S,AUTS2:NM_015570:exon19:c.C3159T:p.S1053S",NA,NA,NA,NA,NA,NA
chr7,106508551,106508551,C,A,P305087_T,PIK3CG,Missense_Mutation,NM_001282426,exon2,c.C545A,p.T182N,SNP,SNVindel,exonic,PIK3CG,NA,nonsynonymous SNV,"PIK3CG:NM_001282426:exon2:c.C545A:p.T182N,PIK3CG:NM_001282427:exon2:c.C545A:p.T182N,PIK3CG:NM_002649:exon2:c.C545A:p.T182N",T,D,D,T,N,T
chr7,129079924,129079924,A,C,P305087_T,STRIP2,Missense_Mutation,NM_001134336,exon2,c.A191C,p.E64A,SNP,SNVindel,exonic,STRIP2,NA,nonsynonymous SNV,"STRIP2:NM_001134336:exon2:c.A191C:p.E64A,STRIP2:NM_020704:exon2:c.A191C:p.E64A",D,D,D,T,D,D
chr7,142611838,142611838,C,T,P305087_T,TRPV5,Missense_Mutation,NM_019841,exon12,c.G1491A,p.M497I,SNP,SNVindel,exonic,TRPV5,NA,nonsynonymous SNV,TRPV5:NM_019841:exon12:c.G1491A:p.M497I,T,D,D,D,N,D
chr7,143807568,143807568,G,A,P305087_T,OR2A2,Missense_Mutation,NM_001005480,exon1,c.G893A,p.G298D,SNP,SNVindel,exonic,OR2A2,NA,nonsynonymous SNV,OR2A2:NM_001005480:exon1:c.G893A:p.G298D,D,U,N,T,D,T
chr8,55537943,55537943,T,C,P305087_T,RP1,Missense_Mutation,NM_006269,exon4,c.T1501C,p.F501L,SNP,SNVindel,exonic,RP1,NA,nonsynonymous SNV,RP1:NM_006269:exon4:c.T1501C:p.F501L,D,N,D,T,N,T
chr8,56860177,56860177,A,T,P305087_T,LYN,Missense_Mutation,NM_001111097,exon4,c.A116T,p.D39V,SNP,SNVindel,exonic,LYN,NA,nonsynonymous SNV,"LYN:NM_001111097:exon4:c.A116T:p.D39V,LYN:NM_002350:exon4:c.A179T:p.D60V",D,D,D,T,N,T
chr8,110445410,110445410,T,C,P305087_T,PKHD1L1,Missense_Mutation,NM_177531,exon28,c.T3305C,p.V1102A,SNP,SNVindel,exonic,PKHD1L1,NA,nonsynonymous SNV,PKHD1L1:NM_177531:exon28:c.T3305C:p.V1102A,D,N,N,T,D,T
chr8,121061906,121061906,C,T,P305087_T,DEPTOR,Missense_Mutation,NM_001283012,exon7,c.C890T,p.T297M,SNP,SNVindel,exonic,DEPTOR,NA,nonsynonymous SNV,"DEPTOR:NM_001283012:exon7:c.C890T:p.T297M,DEPTOR:NM_022783:exon9:c.C1193T:p.T398M",D,D,D,T,N,T
chr9,34729356,34729356,G,A,P305087_T,FAM205A,Silent,NM_001141917,exon1,c.C69T,p.I23I,SNP,SNVindel,exonic,FAM205A,NA,synonymous SNV,FAM205A:NM_001141917:exon1:c.C69T:p.I23I,NA,NA,NA,NA,NA,NA
chr9,112704997,112704997,A,G,P305087_T,PALM2-AKAP2,Silent,NM_001037293,exon7,c.A432G,p.K144K,SNP,SNVindel,exonic,PALM2-AKAP2,NA,synonymous SNV,"PALM2-AKAP2:NM_001037293:exon7:c.A432G:p.K144K,PALM2-AKAP2:NM_053016:exon7:c.A528G:p.K176K",NA,NA,NA,NA,NA,NA
chr9,135418406,135418406,C,T,P305087_T,CFAP77,Missense_Mutation,NM_001282957,exon5,c.C704T,p.T235I,SNP,SNVindel,exonic,CFAP77,NA,nonsynonymous SNV,"CFAP77:NM_001282957:exon5:c.C704T:p.T235I,CFAP77:NM_207417:exon6:c.C812T:p.T271I",D,N,N,T,N,T
chr10,43297639,43297639,G,A,P305087_T,BMS1,Missense_Mutation,NM_014753,exon13,c.G2302A,p.D768N,SNP,SNVindel,exonic,BMS1,NA,nonsynonymous SNV,BMS1:NM_014753:exon13:c.G2302A:p.D768N,D,D,D,T,D,T
chr11,1651411,1651411,G,T,P305087_T,KRTAP5-5,Missense_Mutation,NM_001001480,exon1,c.G341T,p.G114V,SNP,SNVindel,exonic,KRTAP5-5,NA,nonsynonymous SNV,KRTAP5-5:NM_001001480:exon1:c.G341T:p.G114V,D,.,D,T,N,T
chr11,57506221,57506221,T,G,P305087_T,TMX2,Missense_Mutation,NM_001144012,exon4,c.T413G,p.I138S,SNP,SNVindel,exonic,TMX2,NA,nonsynonymous SNV,"TMX2:NM_001144012:exon4:c.T413G:p.I138S,TMX2:NM_001347890:exon5:c.T527G:p.I176S,TMX2:NM_001347891:exon5:c.T443G:p.I148S,TMX2:NM_001347892:exon5:c.T320G:p.I107S,TMX2:NM_001347893:exon5:c.T245G:p.I82S,TMX2:NM_001347894:exon5:c.T245G:p.I82S,TMX2:NM_001347895:exon5:c.T245G:p.I82S,TMX2:NM_001347896:exon5:c.T245G:p.I82S,TMX2:NM_001347898:exon5:c.T527G:p.I176S,TMX2:NM_015959:exon5:c.T527G:p.I176S",D,U,D,T,D,T
chr11,66114516,66114516,C,T,P305087_T,B4GAT1,Silent,NM_006876,exon1,c.G501A,p.V167V,SNP,SNVindel,exonic,B4GAT1,NA,synonymous SNV,B4GAT1:NM_006876:exon1:c.G501A:p.V167V,NA,NA,NA,NA,NA,NA
chr11,69588117,69588117,G,A,P305087_T,FGF4,Missense_Mutation,NM_002007,exon3,c.C581T,p.S194L,SNP,SNVindel,exonic,FGF4,NA,nonsynonymous SNV,FGF4:NM_002007:exon3:c.C581T:p.S194L,D,D,D,D,D,D
chr11,69588802,69588802,A,T,P305087_T,FGF4,Missense_Mutation,NM_002007,exon2,c.T434A,p.L145H,SNP,SNVindel,exonic,FGF4,NA,nonsynonymous SNV,FGF4:NM_002007:exon2:c.T434A:p.L145H,D,D,D,D,D,D
chr11,129993594,129993594,G,A,P305087_T,APLP2,Missense_Mutation,NM_001142276,exon7,c.G1010A,p.R337H,SNP,SNVindel,exonic,APLP2,NA,nonsynonymous SNV,"APLP2:NM_001142276:exon7:c.G1010A:p.R337H,APLP2:NM_001243299:exon7:c.G1040A:p.R347H,APLP2:NM_001328684:exon7:c.G1010A:p.R337H,APLP2:NM_001328686:exon7:c.G911A:p.R304H,APLP2:NM_001642:exon7:c.G1010A:p.R337H",T,N,D,T,N,T
chr12,333226,333226,G,A,P305087_T,SLC6A13,Missense_Mutation,NM_001190997,exon9,c.C967T,p.R323W,SNP,SNVindel,exonic,SLC6A13,NA,nonsynonymous SNV,"SLC6A13:NM_001190997:exon9:c.C967T:p.R323W,SLC6A13:NM_016615:exon11:c.C1243T:p.R415W",D,D,D,T,D,D
chr12,51675283,51675283,T,C,P305087_T,BIN2,Nonstop_Mutation,NM_001364781,exon11,c.A1536G,p.X512W,SNP,SNVindel,exonic,BIN2,NA,stoploss,"BIN2:NM_001364781:exon11:c.A1536G:p.X512W,BIN2:NM_001290008:exon12:c.A1602G:p.X534W,BIN2:NM_001290009:exon12:c.A1326G:p.X442W,BIN2:NM_001364780:exon12:c.A1617G:p.X539W,BIN2:NM_001290007:exon13:c.A1620G:p.X540W,BIN2:NM_001364779:exon13:c.A1695G:p.X565W,BIN2:NM_016293:exon13:c.A1698G:p.X566W",.,.,N,.,.,.
chr12,72956647,72956647,T,A,P305087_T,TRHDE,Missense_Mutation,NM_013381,exon9,c.T1734A,p.N578K,SNP,SNVindel,exonic,TRHDE,NA,nonsynonymous SNV,TRHDE:NM_013381:exon9:c.T1734A:p.N578K,T,D,D,T,N,T
chr13,98666453,98666453,G,A,P305087_T,IPO5,Missense_Mutation,NM_002271,exon22,c.G2310A,p.M770I,SNP,SNVindel,exonic,IPO5,NA,nonsynonymous SNV,IPO5:NM_002271:exon22:c.G2310A:p.M770I,T,D,D,T,N,T
chr14,74874249,74874249,C,T,P305087_T,SYNDIG1L,Missense_Mutation,NM_001105579,exon4,c.G706A,p.G236S,SNP,SNVindel,exonic,SYNDIG1L,NA,nonsynonymous SNV,SYNDIG1L:NM_001105579:exon4:c.G706A:p.G236S,T,N,D,D,N,D
chr14,105644054,105644054,A,G,P305087_T,NUDT14,Missense_Mutation,NM_001318380,exon2,c.T100C,p.W34R,SNP,SNVindel,exonic,NUDT14,NA,nonsynonymous SNV,"NUDT14:NM_001318380:exon2:c.T100C:p.W34R,NUDT14:NM_177533:exon2:c.T100C:p.W34R",D,D,D,T,D,T
chr15,31329941,31329941,C,T,P305087_T,TRPM1,Silent,NM_001252020,exon19,c.G2595A,p.A865A,SNP,SNVindel,exonic,TRPM1,NA,synonymous SNV,"TRPM1:NM_001252020:exon19:c.G2595A:p.A865A,TRPM1:NM_002420:exon19:c.G2478A:p.A826A,TRPM1:NM_001252024:exon20:c.G2544A:p.A848A",NA,NA,NA,NA,NA,NA
chr15,44166592,44166592,G,C,P305087_T,FRMD5,Missense_Mutation,NM_001322951,exon13,c.C1099G,p.L367V,SNP,SNVindel,exonic,FRMD5,NA,nonsynonymous SNV,"FRMD5:NM_001322951:exon13:c.C1099G:p.L367V,FRMD5:NM_001322949:exon14:c.C1204G:p.L402V,FRMD5:NM_001322950:exon14:c.C1204G:p.L402V,FRMD5:NM_032892:exon14:c.C1204G:p.L402V,FRMD5:NM_001286490:exon15:c.C922G:p.L308V,FRMD5:NM_001286491:exon15:c.C502G:p.L168V",T,N,D,D,N,T
chr15,65793095,65793095,T,G,P305087_T,DPP8,Missense_Mutation,NM_001320876,exon4,c.A395C,p.Y132S,SNP,SNVindel,exonic,DPP8,NA,nonsynonymous SNV,"DPP8:NM_001320876:exon4:c.A395C:p.Y132S,DPP8:NM_017743:exon4:c.A395C:p.Y132S,DPP8:NM_130434:exon4:c.A395C:p.Y132S,DPP8:NM_001320875:exon5:c.A443C:p.Y148S,DPP8:NM_197960:exon5:c.A443C:p.Y148S,DPP8:NM_197961:exon5:c.A443C:p.Y148S",D,D,D,T,D,T
chr16,1715058,1715058,A,G,P305087_T,CRAMP1,Missense_Mutation,NM_020825,exon13,c.A2671G,p.R891G,SNP,SNVindel,exonic,CRAMP1,NA,nonsynonymous SNV,CRAMP1:NM_020825:exon13:c.A2671G:p.R891G,D,D,D,.,D,T
chr16,2522188,2522188,T,A,P305087_T,NTN3,Silent,NM_006181,exon1,c.T486A,p.P162P,SNP,SNVindel,exonic,NTN3,NA,synonymous SNV,NTN3:NM_006181:exon1:c.T486A:p.P162P,NA,NA,NA,NA,NA,NA
chr16,3452382,3452382,A,G,P305087_T,ZNF174,Silent,NM_001032292,exon1,c.A378G,p.R126R,SNP,SNVindel,exonic,ZNF174,NA,synonymous SNV,"ZNF174:NM_001032292:exon1:c.A378G:p.R126R,ZNF174:NM_001347869:exon1:c.A378G:p.R126R,ZNF174:NM_003450:exon1:c.A378G:p.R126R,ZNF174:NM_001347868:exon2:c.A378G:p.R126R,ZNF174:NM_001347870:exon2:c.A378G:p.R126R",NA,NA,NA,NA,NA,NA
chr16,28845724,28845724,C,T,P305087_T,ATXN2L,Missense_Mutation,NM_001308230,exon17,c.C2251T,p.R751W,SNP,SNVindel,exonic,ATXN2L,NA,nonsynonymous SNV,"ATXN2L:NM_001308230:exon17:c.C2251T:p.R751W,ATXN2L:NM_007245:exon17:c.C2233T:p.R745W,ATXN2L:NM_017492:exon17:c.C2233T:p.R745W,ATXN2L:NM_145714:exon17:c.C2233T:p.R745W,ATXN2L:NM_148414:exon17:c.C2233T:p.R745W,ATXN2L:NM_148415:exon17:c.C2233T:p.R745W,ATXN2L:NM_148416:exon17:c.C2233T:p.R745W",D,N,D,T,N,T
chr16,46766443,46766443,C,T,P305087_T,MYLK3,Missense_Mutation,NM_001308301,exon3,c.G116A,p.R39H,SNP,SNVindel,exonic,MYLK3,NA,nonsynonymous SNV,"MYLK3:NM_001308301:exon3:c.G116A:p.R39H,MYLK3:NM_182493:exon4:c.G1139A:p.R380H",T,.,N,T,N,T
chr16,55705992,55705992,C,T,P305087_T,SLC6A2,Silent,NM_001172502,exon1,c.C234T,p.P78P,SNP,SNVindel,exonic,SLC6A2,NA,synonymous SNV,"SLC6A2:NM_001172502:exon1:c.C234T:p.P78P,SLC6A2:NM_001043:exon3:c.C549T:p.P183P,SLC6A2:NM_001172504:exon3:c.C549T:p.P183P,SLC6A2:NM_001172501:exon4:c.C549T:p.P183P",NA,NA,NA,NA,NA,NA
chr16,60392540,60392540,C,T,P305087_T,NPAP1L,Missense_Mutation,NM_001282301,exon1,c.G1067A,p.C356Y,SNP,SNVindel,exonic,NPAP1L,NA,nonsynonymous SNV,NPAP1L:NM_001282301:exon1:c.G1067A:p.C356Y,.,.,.,.,.,.
chr16,68156950,68156950,T,G,P305087_T,NFATC3,Missense_Mutation,NM_004555,exon2,c.T1164G,p.C388W,SNP,SNVindel,exonic,NFATC3,NA,nonsynonymous SNV,"NFATC3:NM_004555:exon2:c.T1164G:p.C388W,NFATC3:NM_173163:exon2:c.T1164G:p.C388W,NFATC3:NM_173165:exon2:c.T1164G:p.C388W",T,N,N,T,N,T
chr17,3336947,3336947,G,A,P305087_T,OR1E2,Silent,NM_003554,exon1,c.C189T,p.L63L,SNP,SNVindel,exonic,OR1E2,NA,synonymous SNV,OR1E2:NM_003554:exon1:c.C189T:p.L63L,NA,NA,NA,NA,NA,NA
chr17,39023370,39023370,C,T,P305087_T,KRT12,Silent,NM_000223,exon1,c.G69A,p.S23S,SNP,SNVindel,exonic,KRT12,NA,synonymous SNV,KRT12:NM_000223:exon1:c.G69A:p.S23S,NA,NA,NA,NA,NA,NA
chr17,41165826,41165826,C,T,P305087_T,IFI35,Missense_Mutation,NM_001330230,exon6,c.C596T,p.T199I,SNP,SNVindel,exonic,IFI35,NA,nonsynonymous SNV,"IFI35:NM_001330230:exon6:c.C596T:p.T199I,IFI35:NM_005533:exon6:c.C602T:p.T201I",T,N,N,T,N,T
chr17,67092899,67092899,G,A,P305087_T,ABCA6,Missense_Mutation,NM_080284,exon24,c.C3164T,p.S1055F,SNP,SNVindel,exonic,ABCA6,NA,nonsynonymous SNV,ABCA6:NM_080284:exon24:c.C3164T:p.S1055F,D,D,D,D,D,D
chr17,73808245,73808245,C,T,P305087_T,UNK,Missense_Mutation,NM_001080419,exon3,c.C367T,p.R123C,SNP,SNVindel,exonic,UNK,NA,nonsynonymous SNV,UNK:NM_001080419:exon3:c.C367T:p.R123C,.,D,D,.,.,D
chr17,74075418,74075418,C,T,P305087_T,ZACN,Nonsense_Mutation,NM_180990,exon1,c.C73T,p.Q25X,SNP,SNVindel,exonic,ZACN,NA,stopgain,ZACN:NM_180990:exon1:c.C73T:p.Q25X,.,N,A,.,.,.
chr18,63492051,63492051,T,A,P305087_T,CDH7,Missense_Mutation,NM_001317214,exon6,c.T965A,p.I322N,SNP,SNVindel,exonic,CDH7,NA,nonsynonymous SNV,"CDH7:NM_001317214:exon6:c.T965A:p.I322N,CDH7:NM_001362438:exon6:c.T965A:p.I322N,CDH7:NM_004361:exon6:c.T965A:p.I322N,CDH7:NM_033646:exon6:c.T965A:p.I322N",D,D,D,T,D,T
chr19,2078332,2078332,G,A,P305087_T,MOB3A,Silent,NM_130807,exon3,c.C228T,p.Y76Y,SNP,SNVindel,exonic,MOB3A,NA,synonymous SNV,MOB3A:NM_130807:exon3:c.C228T:p.Y76Y,NA,NA,NA,NA,NA,NA
chr19,8609243,8609243,C,G,P305087_T,MYO1F,Missense_Mutation,NM_001348355,exon14,c.G1450C,p.G484R,SNP,SNVindel,exonic,MYO1F,NA,nonsynonymous SNV,"MYO1F:NM_001348355:exon14:c.G1450C:p.G484R,MYO1F:NM_012335:exon14:c.G1462C:p.G488R",T,U,D,D,D,D
chr19,8654220,8654220,G,A,P305087_T,ADAMTS10,Silent,NM_001282352,exon5,c.C525T,p.S175S,SNP,SNVindel,exonic,ADAMTS10,NA,synonymous SNV,"ADAMTS10:NM_001282352:exon5:c.C525T:p.S175S,ADAMTS10:NM_030957:exon18:c.C2064T:p.S688S",NA,NA,NA,NA,NA,NA
chr19,15278063,15278063,G,A,P305087_T,NOTCH3,Missense_Mutation,NM_000435,exon29,c.C5359T,p.P1787S,SNP,SNVindel,exonic,NOTCH3,NA,nonsynonymous SNV,NOTCH3:NM_000435:exon29:c.C5359T:p.P1787S,D,.,D,T,D,T
chr19,35941558,35941558,G,C,P305087_T,FFAR2,Missense_Mutation,NM_001370087,exon2,c.G942C,p.R314S,SNP,SNVindel,exonic,FFAR2,NA,nonsynonymous SNV,"FFAR2:NM_001370087:exon2:c.G942C:p.R314S,FFAR2:NM_005306:exon3:c.G942C:p.R314S",T,N,N,T,N,T
chr19,39212212,39212212,G,A,P305087_T,ACTN4,Silent,NM_001322033,exon12,c.G1326A,p.E442E,SNP,SNVindel,exonic,ACTN4,NA,synonymous SNV,"ACTN4:NM_001322033:exon12:c.G1326A:p.E442E,ACTN4:NM_004924:exon12:c.G1326A:p.E442E",NA,NA,NA,NA,NA,NA
chr19,40719763,40719763,G,A,P305087_T,MAP3K10,Missense_Mutation,NM_002446,exon9,c.G2177A,p.R726H,SNP,SNVindel,exonic,MAP3K10,NA,nonsynonymous SNV,MAP3K10:NM_002446:exon9:c.G2177A:p.R726H,D,D,D,T,N,T
chr20,3736225,3736225,A,C,P305087_T,C20orf27,Nonsense_Mutation,NM_001039140,exon4,c.T267G,p.Y89X,SNP,SNVindel,exonic,C20orf27,NA,stopgain,"C20orf27:NM_001039140:exon4:c.T267G:p.Y89X,C20orf27:NM_001258429:exon4:c.T192G:p.Y64X,C20orf27:NM_001258430:exon4:c.T192G:p.Y64X",.,U,A,.,.,.
chr20,55905043,55905043,C,T,P305087_T,SPO11,Silent,NM_012444,exon1,c.C120T,p.R40R,SNP,SNVindel,exonic,SPO11,NA,synonymous SNV,"SPO11:NM_012444:exon1:c.C120T:p.R40R,SPO11:NM_198265:exon1:c.C120T:p.R40R",NA,NA,NA,NA,NA,NA
chr20,62871243,62871243,G,A,P305087_T,MYT1,Missense_Mutation,NM_004535,exon22,c.G3224A,p.R1075H,SNP,SNVindel,exonic,MYT1,NA,nonsynonymous SNV,MYT1:NM_004535:exon22:c.G3224A:p.R1075H,D,D,D,T,D,T
chr21,11097574,11097574,T,A,P305087_T,BAGE,Missense_Mutation,NM_001187,exon2,c.A88T,p.R30W,SNP,SNVindel,exonic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,nonsynonymous SNV,"BAGE:NM_001187:exon2:c.A88T:p.R30W,BAGE4:NM_181704:exon2:c.A88T:p.R30W,BAGE3:NM_182481:exon2:c.A88T:p.R30W,BAGE2:NM_182482:exon2:c.A88T:p.R30W,BAGE5:NM_182484:exon2:c.A88T:p.R30W",NA,NA,NA,NA,NA,NA
chr21,45919804,45919804,C,G,P305087_T,TSPEAR,Missense_Mutation,NM_144991,exon12,c.G1872C,p.E624D,SNP,SNVindel,exonic,TSPEAR,NA,nonsynonymous SNV,"TSPEAR:NM_144991:exon12:c.G1872C:p.E624D,TSPEAR:NM_001272037:exon13:c.G1668C:p.E556D",D,U,D,T,N,T
chr21,46011324,46011324,T,C,P305087_T,KRTAP10-6,Missense_Mutation,NM_198688,exon1,c.A1042G,p.M348V,SNP,SNVindel,exonic,KRTAP10-6,NA,nonsynonymous SNV,KRTAP10-6:NM_198688:exon1:c.A1042G:p.M348V,T,.,N,T,N,T
chr22,38130602,38130602,C,G,P305087_T,TRIOBP,Missense_Mutation,NM_001039141,exon9,c.C4259G,p.P1420R,SNP,SNVindel,exonic,TRIOBP,NA,nonsynonymous SNV,TRIOBP:NM_001039141:exon9:c.C4259G:p.P1420R,D,.,N,T,N,T
chr22,42377649,42377649,G,A,P305087_T,SEPTIN3,Missense_Mutation,NM_019106,exon2,c.G11A,p.G4E,SNP,SNVindel,exonic,SEPTIN3,NA,nonsynonymous SNV,"SEPTIN3:NM_019106:exon2:c.G11A:p.G4E,SEPTIN3:NM_145733:exon2:c.G11A:p.G4E,SEPTIN3:NM_001363845:exon3:c.G1505A:p.G502E",D,U,D,T,N,T
chr22,50480180,50480180,C,T,P305087_T,TTLL8,Missense_Mutation,NM_001350317,exon9,c.G808A,p.A270T,SNP,SNVindel,exonic,TTLL8,NA,nonsynonymous SNV,TTLL8:NM_001350317:exon9:c.G808A:p.A270T,D,N,N,T,D,T
chrX,7811758,7811758,G,A,P305087_T,VCX,Missense_Mutation,NM_013452,exon3,c.G322A,p.A108T,SNP,SNVindel,exonic,VCX,NA,nonsynonymous SNV,VCX:NM_013452:exon3:c.G322A:p.A108T,T,.,N,T,N,T
chrX,7811759,7811759,C,G,P305087_T,VCX,Missense_Mutation,NM_013452,exon3,c.C323G,p.A108G,SNP,SNVindel,exonic,VCX,NA,nonsynonymous SNV,VCX:NM_013452:exon3:c.C323G:p.A108G,T,.,N,T,N,T
chrX,25031350,25031350,G,A,P305087_T,ARX,Silent,NM_139058,exon2,c.C762T,p.D254D,SNP,SNVindel,exonic,ARX,NA,synonymous SNV,ARX:NM_139058:exon2:c.C762T:p.D254D,NA,NA,NA,NA,NA,NA
chrX,37931311,37931311,T,C,P305087_T,SYTL5,Missense_Mutation,NM_001163334,exon3,c.T341C,p.I114T,SNP,SNVindel,exonic,SYTL5,NA,nonsynonymous SNV,"SYTL5:NM_001163334:exon3:c.T341C:p.I114T,SYTL5:NM_138780:exon4:c.T341C:p.I114T,SYTL5:NM_001163335:exon5:c.T341C:p.I114T",T,N,N,T,N,T
chrX,49355893,49355893,C,G,P305087_T,GAGE2A,Missense_Mutation,NM_001127212,exon3,c.C175G,p.Q59E,SNP,SNVindel,exonic,GAGE2A,NA,nonsynonymous SNV,GAGE2A:NM_001127212:exon3:c.C175G:p.Q59E,T,.,P,T,N,T
chrX,103268077,103268077,G,T,P305087_T,H2BFWT,Silent,NM_001002916,exon1,c.C156A,p.S52S,SNP,SNVindel,exonic,H2BFWT,NA,synonymous SNV,H2BFWT:NM_001002916:exon1:c.C156A:p.S52S,NA,NA,NA,NA,NA,NA
chrX,107977136,107977136,G,T,P305087_T,IRS4,Missense_Mutation,NM_003604,exon1,c.C2439A,p.N813K,SNP,SNVindel,exonic,IRS4,NA,nonsynonymous SNV,IRS4:NM_003604:exon1:c.C2439A:p.N813K,T,N,N,T,N,T
chrX,148069011,148069011,C,G,P305087_T,AFF2,Missense_Mutation,NM_001170628,exon17,c.C2661G,p.H887Q,SNP,SNVindel,exonic,AFF2,NA,nonsynonymous SNV,"AFF2:NM_001170628:exon17:c.C2661G:p.H887Q,AFF2:NM_001169122:exon19:c.C3633G:p.H1211Q,AFF2:NM_001169124:exon19:c.C3633G:p.H1211Q,AFF2:NM_001169125:exon19:c.C3621G:p.H1207Q,AFF2:NM_001169123:exon20:c.C3708G:p.H1236Q,AFF2:NM_002025:exon20:c.C3738G:p.H1246Q",D,D,D,T,D,T
chr1,2124303,2124303,G,T,P310851_F,FAAP20,Silent,NM_001256946,exon4,c.C582A,p.A194A,SNP,SNVindel,exonic,FAAP20,NA,synonymous SNV,FAAP20:NM_001256946:exon4:c.C582A:p.A194A,NA,NA,NA,NA,NA,NA
chr1,16892193,16892193,A,T,P310851_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,16892277,16892277,G,A,P310851_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,120384182,120384182,A,G,P310851_F,NBPF7,Missense_Mutation,NM_001047980,exon3,c.T380C,p.I127T,SNP,SNVindel,exonic,NBPF7,NA,nonsynonymous SNV,NBPF7:NM_001047980:exon3:c.T380C:p.I127T,NA,NA,NA,NA,NA,NA
chr1,120480538,120480538,C,T,P310851_F,NOTCH2,Nonsense_Mutation,NM_001200001,exon20,c.G3279A,p.W1093X,SNP,SNVindel,exonic,NOTCH2,NA,stopgain,"NOTCH2:NM_001200001:exon20:c.G3279A:p.W1093X,NOTCH2:NM_024408:exon20:c.G3279A:p.W1093X",.,U,A,.,.,.
chr1,145293573,145293573,G,C,P310851_F,NBPF10,Missense_Mutation,NM_001039703,exon1,c.G168C,p.K56N,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon1:c.G168C:p.K56N,NBPF10:NM_001302371:exon1:c.G168C:p.K56N",.,.,N,.,.,T
chr1,145296448,145296448,T,A,P310851_F,NBPF10,Missense_Mutation,NM_001039703,exon3,c.T370A,p.Y124N,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon3:c.T370A:p.Y124N,NBPF10:NM_001302371:exon3:c.T370A:p.Y124N",NA,NA,NA,NA,NA,NA
chr1,168161459,168161459,A,G,P310851_F,TIPRL,Missense_Mutation,NM_001031800,exon5,c.A530G,p.H177R,SNP,SNVindel,exonic,TIPRL,NA,nonsynonymous SNV,TIPRL:NM_001031800:exon5:c.A530G:p.H177R,T,.,N,.,N,T
chr1,196254803,196254803,T,C,P310851_F,KCNT2,Missense_Mutation,NM_001287820,exon21,c.A2459G,p.D820G,SNP,SNVindel,exonic,KCNT2,NA,nonsynonymous SNV,"KCNT2:NM_001287820:exon21:c.A2459G:p.D820G,KCNT2:NM_001287819:exon22:c.A2609G:p.D870G,KCNT2:NM_198503:exon23:c.A2681G:p.D894G",D,D,D,T,D,D
chr2,74761848,74761848,C,T,P310851_F,LOXL3,Missense_Mutation,NM_001289165,exon6,c.G550A,p.E184K,SNP,SNVindel,exonic,LOXL3,NA,nonsynonymous SNV,"LOXL3:NM_001289165:exon6:c.G550A:p.E184K,LOXL3:NM_001289164:exon8:c.G1198A:p.E400K,LOXL3:NM_032603:exon10:c.G1633A:p.E545K",D,D,D,T,D,T
chr2,96521154,96521154,C,G,P310851_F,ANKRD36C,Missense_Mutation,NM_001310154,exon84,c.G5953C,p.D1985H,SNP,SNVindel,exonic,ANKRD36C,NA,nonsynonymous SNV,ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,T,.,N,T,N,T
chr2,107052690,107052690,T,C,P310851_F,RGPD3,Silent,NM_001144013,exon12,c.A1647G,p.S549S,SNP,SNVindel,exonic,RGPD3,NA,synonymous SNV,RGPD3:NM_001144013:exon12:c.A1647G:p.S549S,NA,NA,NA,NA,NA,NA
chr2,241631616,241631616,T,C,P310851_F,AQP12A,Silent,NM_198998,exon2,c.T249C,p.T83T,SNP,SNVindel,exonic,AQP12A,NA,synonymous SNV,AQP12A:NM_198998:exon2:c.T249C:p.T83T,NA,NA,NA,NA,NA,NA
chr3,13368846,13368846,C,T,P310851_F,NUP210,Missense_Mutation,NM_024923,exon32,c.G4378A,p.D1460N,SNP,SNVindel,exonic,NUP210,NA,nonsynonymous SNV,NUP210:NM_024923:exon32:c.G4378A:p.D1460N,D,D,D,T,D,T
chr4,75312426,75312426,C,T,P310851_F,AREG,Silent,NM_001657,exon2,c.C237T,p.A79A,SNP,SNVindel,exonic,AREG,NA,synonymous SNV,AREG:NM_001657:exon2:c.C237T:p.A79A,NA,NA,NA,NA,NA,NA
chr4,148886255,148886255,G,T,P310851_F,ARHGAP10,Missense_Mutation,NM_024605,exon17,c.G1531T,p.D511Y,SNP,SNVindel,exonic,ARHGAP10,NA,nonsynonymous SNV,ARHGAP10:NM_024605:exon17:c.G1531T:p.D511Y,D,D,D,T,D,T
chr5,78347145,78347145,C,T,P310851_F,DMGDH,Missense_Mutation,NM_013391,exon5,c.G710A,p.G237E,SNP,SNVindel,exonic,DMGDH,NA,nonsynonymous SNV,DMGDH:NM_013391:exon5:c.G710A:p.G237E,D,D,D,D,D,D
chr5,123977009,123977009,C,T,P310851_F,ZNF608,Silent,NM_020747,exon7,c.G4386A,p.T1462T,SNP,SNVindel,exonic,ZNF608,NA,synonymous SNV,ZNF608:NM_020747:exon7:c.G4386A:p.T1462T,NA,NA,NA,NA,NA,NA
chr6,19838107,19838107,C,G,P310851_F,ID4,Missense_Mutation,NM_001546,exon1,c.C122G,p.A41G,SNP,SNVindel,exonic,ID4,NA,nonsynonymous SNV,ID4:NM_001546:exon1:c.C122G:p.A41G,T,U,N,T,N,T
chr6,32609184,32609184,G,A,P310851_F,HLA-DQA1,Silent,NM_002122,exon2,c.G180A,p.V60V,SNP,SNVindel,exonic,HLA-DQA1,NA,synonymous SNV,HLA-DQA1:NM_002122:exon2:c.G180A:p.V60V,NA,NA,NA,NA,NA,NA
chr6,56374512,56374512,C,T,P310851_F,DST,Missense_Mutation,NM_015548,exon55,c.G11071A,p.E3691K,SNP,SNVindel,exonic,DST,NA,nonsynonymous SNV,"DST:NM_015548:exon55:c.G11071A:p.E3691K,DST:NM_183380:exon65:c.G12049A:p.E4017K,DST:NM_001144770:exon66:c.G12169A:p.E4057K,DST:NM_001144769:exon68:c.G12583A:p.E4195K",D,D,.,T,D,T
chr7,134800362,134800362,C,G,P310851_F,AGBL3,Missense_Mutation,NM_001345851,exon10,c.C664G,p.Q222E,SNP,SNVindel,exonic,AGBL3,NA,nonsynonymous SNV,"AGBL3:NM_001345851:exon10:c.C664G:p.Q222E,AGBL3:NM_001345850:exon11:c.C844G:p.Q282E,AGBL3:NM_178563:exon16:c.C2341G:p.Q781E",T,.,D,T,N,T
chr7,149191319,149191319,C,T,P310851_F,ZNF746,Silent,NM_001163474,exon2,c.G300A,p.P100P,SNP,SNVindel,exonic,ZNF746,NA,synonymous SNV,"ZNF746:NM_001163474:exon2:c.G300A:p.P100P,ZNF746:NM_001363517:exon2:c.G300A:p.P100P,ZNF746:NM_152557:exon2:c.G300A:p.P100P",NA,NA,NA,NA,NA,NA
chr8,11990819,11990819,T,G,P310851_F,USP17L7,Missense_Mutation,NM_001256869,exon1,c.A700C,p.K234Q,SNP,SNVindel,exonic,USP17L7,NA,nonsynonymous SNV,USP17L7:NM_001256869:exon1:c.A700C:p.K234Q,.,.,.,.,.,.
chr8,74209440,74209440,G,A,P310851_F,RDH10,Missense_Mutation,NM_172037,exon2,c.G301A,p.E101K,SNP,SNVindel,exonic,RDH10,NA,nonsynonymous SNV,RDH10:NM_172037:exon2:c.G301A:p.E101K,T,D,D,D,N,T
chr9,135277338,135277338,A,C,P310851_F,TTF1,Missense_Mutation,NM_007344,exon2,c.T871G,p.L291V,SNP,SNVindel,exonic,TTF1,NA,nonsynonymous SNV,TTF1:NM_007344:exon2:c.T871G:p.L291V,T,.,N,T,N,T
chr11,57466548,57466548,G,A,P310851_F,ZDHHC5,Missense_Mutation,NM_015457,exon11,c.G1640A,p.R547Q,SNP,SNVindel,exonic,ZDHHC5,NA,nonsynonymous SNV,ZDHHC5:NM_015457:exon11:c.G1640A:p.R547Q,D,N,D,T,N,T
chr11,75442313,75442313,G,A,P310851_F,MOGAT2,Silent,NM_025098,exon6,c.G987A,p.Q329Q,SNP,SNVindel,exonic,MOGAT2,NA,synonymous SNV,MOGAT2:NM_025098:exon6:c.G987A:p.Q329Q,NA,NA,NA,NA,NA,NA
chr11,89537461,89537461,G,T,P310851_F,TRIM49,Silent,NM_020358,exon3,c.C177A,p.T59T,SNP,SNVindel,exonic,TRIM49,NA,synonymous SNV,TRIM49:NM_020358:exon3:c.C177A:p.T59T,NA,NA,NA,NA,NA,NA
chr11,95825407,95825407,C,T,P310851_F,MAML2,Silent,NM_032427,exon2,c.G1788A,p.Q596Q,SNP,SNVindel,exonic,MAML2,NA,synonymous SNV,MAML2:NM_032427:exon2:c.G1788A:p.Q596Q,NA,NA,NA,NA,NA,NA
chr12,11546439,11546439,G,A,P310851_F,PRB1,Silent,NM_001367912,exon3,c.C573T,p.P191P,SNP,SNVindel,exonic,PRB1;PRB2,NA,synonymous SNV,"PRB1:NM_001367912:exon3:c.C573T:p.P191P,PRB2:NM_006248:exon3:c.C573T:p.P191P",NA,NA,NA,NA,NA,NA
chr12,31256795,31256795,G,A,P310851_F,DDX11,Missense_Mutation,NM_001257144,exon27,c.G2741A,p.R914H,SNP,SNVindel,exonic,DDX11,NA,nonsynonymous SNV,"DDX11:NM_001257144:exon27:c.G2741A:p.R914H,DDX11:NM_152438:exon27:c.G2741A:p.R914H",D,.,N,T,N,T
chr13,25058867,25058867,C,T,P310851_F,PARP4,Missense_Mutation,NM_006437,exon12,c.G1372A,p.V458I,SNP,SNVindel,exonic,PARP4,NA,nonsynonymous SNV,PARP4:NM_006437:exon12:c.G1372A:p.V458I,D,N,N,T,N,T
chr13,25281301,25281301,C,T,P310851_F,ATP12A,Silent,NM_001185085,exon16,c.C2328T,p.F776F,SNP,SNVindel,exonic,ATP12A,NA,synonymous SNV,"ATP12A:NM_001185085:exon16:c.C2328T:p.F776F,ATP12A:NM_001676:exon16:c.C2310T:p.F770F",NA,NA,NA,NA,NA,NA
chr13,45857676,45857676,G,A,P310851_F,GTF2F2,Missense_Mutation,NM_004128,exon8,c.G730A,p.G244R,SNP,SNVindel,exonic,GTF2F2,NA,nonsynonymous SNV,GTF2F2:NM_004128:exon8:c.G730A:p.G244R,T,N,N,.,N,T
chr16,49671511,49671511,A,G,P310851_F,ZNF423,Missense_Mutation,NM_001330533,exon2,c.T1201C,p.F401L,SNP,SNVindel,exonic,ZNF423,NA,nonsynonymous SNV,"ZNF423:NM_001330533:exon2:c.T1201C:p.F401L,ZNF423:NM_001271620:exon4:c.T1372C:p.F458L,ZNF423:NM_015069:exon4:c.T1552C:p.F518L",D,D,D,T,N,T
chr16,88497207,88497207,G,C,P310851_F,ZNF469,Missense_Mutation,NM_001367624,exon1,c.G3329C,p.G1110A,SNP,SNVindel,exonic,ZNF469,NA,nonsynonymous SNV,ZNF469:NM_001367624:exon1:c.G3329C:p.G1110A,T,.,N,T,N,T
chr16,89017617,89017617,G,C,P310851_F,LOC100129697,Missense_Mutation,NM_001290330,exon2,c.G1091C,p.R364P,SNP,SNVindel,exonic,LOC100129697,NA,nonsynonymous SNV,LOC100129697:NM_001290330:exon2:c.G1091C:p.R364P,NA,NA,NA,NA,NA,NA
chr17,44248642,44248642,G,A,P310851_F,KANSL1,Nonsense_Mutation,NM_001193466,exon2,c.C868T,p.R290X,SNP,SNVindel,exonic,KANSL1,NA,stopgain,"KANSL1:NM_001193466:exon2:c.C868T:p.R290X,KANSL1:NM_015443:exon2:c.C868T:p.R290X,KANSL1:NM_001193465:exon3:c.C868T:p.R290X",.,D,A,.,.,.
chr17,65850547,65850547,G,A,P310851_F,BPTF,Missense_Mutation,NM_004459,exon2,c.G1105A,p.D369N,SNP,SNVindel,exonic,BPTF,NA,nonsynonymous SNV,"BPTF:NM_004459:exon2:c.G1105A:p.D369N,BPTF:NM_182641:exon2:c.G1105A:p.D369N",T,.,D,D,D,D
chr19,1397408,1397408,G,A,P310851_F,GAMT,Missense_Mutation,NM_000156,exon6,c.C661T,p.R221C,SNP,SNVindel,exonic,GAMT,NA,nonsynonymous SNV,GAMT:NM_000156:exon6:c.C661T:p.R221C,D,D,D,D,D,D
chr19,5231415,5231415,C,T,P310851_F,PTPRS,Silent,NM_130854,exon11,c.G2022A,p.E674E,SNP,SNVindel,exonic,PTPRS,NA,synonymous SNV,"PTPRS:NM_130854:exon11:c.G2022A:p.E674E,PTPRS:NM_002850:exon14:c.G2061A:p.E687E",NA,NA,NA,NA,NA,NA
chr20,33346689,33346689,C,T,P310851_F,NCOA6,Missense_Mutation,NM_001242539,exon4,c.G562A,p.G188R,SNP,SNVindel,exonic,NCOA6,NA,nonsynonymous SNV,"NCOA6:NM_001242539:exon4:c.G562A:p.G188R,NCOA6:NM_014071:exon6:c.G562A:p.G188R,NCOA6:NM_001318240:exon7:c.G562A:p.G188R",D,N,D,T,N,T
chr20,45905250,45905250,G,A,P310851_F,ZMYND8,Silent,NM_001281771,exon11,c.C1213T,p.L405L,SNP,SNVindel,exonic,ZMYND8,NA,synonymous SNV,"ZMYND8:NM_001281771:exon11:c.C1213T:p.L405L,ZMYND8:NM_001281775:exon11:c.C1288T:p.L430L,ZMYND8:NM_001281776:exon11:c.C1288T:p.L430L,ZMYND8:NM_001281777:exon11:c.C1213T:p.L405L,ZMYND8:NM_001281778:exon11:c.C1213T:p.L405L,ZMYND8:NM_001281781:exon11:c.C1213T:p.L405L,ZMYND8:NM_001281782:exon11:c.C1213T:p.L405L,ZMYND8:NM_001281783:exon11:c.C1288T:p.L430L,ZMYND8:NM_001281784:exon11:c.C1213T:p.L405L,ZMYND8:NM_001363714:exon11:c.C1309T:p.L437L,ZMYND8:NM_012408:exon11:c.C1288T:p.L430L,ZMYND8:NM_183047:exon11:c.C1288T:p.L430L,ZMYND8:NM_183048:exon11:c.C1213T:p.L405L,ZMYND8:NM_001281773:exon12:c.C1228T:p.L410L,ZMYND8:NM_001281774:exon12:c.C1228T:p.L410L,ZMYND8:NM_001281779:exon12:c.C484T:p.L162L,ZMYND8:NM_001281780:exon12:c.C484T:p.L162L,ZMYND8:NM_001363741:exon12:c.C1228T:p.L410L,ZMYND8:NM_001281772:exon13:c.C1228T:p.L410L",NA,NA,NA,NA,NA,NA
chr22,16287511,16287511,G,A,P310851_F,POTEH,Silent,NM_001136213,exon1,c.C375T,p.D125D,SNP,SNVindel,exonic,POTEH,NA,synonymous SNV,POTEH:NM_001136213:exon1:c.C375T:p.D125D,NA,NA,NA,NA,NA,NA
chr22,50751447,50751447,C,T,P310851_F,DENND6B,Missense_Mutation,NM_001001794,exon17,c.G1438A,p.D480N,SNP,SNVindel,exonic,DENND6B,NA,nonsynonymous SNV,DENND6B:NM_001001794:exon17:c.G1438A:p.D480N,T,D,D,.,D,T
chrX,114426031,114426031,T,C,P310851_F,RBMXL3,Missense_Mutation,NM_001145346,exon1,c.T2027C,p.L676S,SNP,SNVindel,exonic,RBMXL3,NA,nonsynonymous SNV,RBMXL3:NM_001145346:exon1:c.T2027C:p.L676S,T,.,D,T,N,T
chr1,16892193,16892193,A,T,P310851_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,16892277,16892277,G,A,P310851_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,16893763,16893763,T,C,P310851_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,45269685,45269685,G,A,P310851_S,PLK3,Missense_Mutation,NM_004073,exon10,c.G1247A,p.S416N,SNP,SNVindel,exonic,PLK3,NA,nonsynonymous SNV,PLK3:NM_004073:exon10:c.G1247A:p.S416N,T,.,D,T,N,T
chr1,114401114,114401114,C,T,P310851_S,PTPN22,Missense_Mutation,NM_001193431,exon4,c.G355A,p.E119K,SNP,SNVindel,exonic,PTPN22,NA,nonsynonymous SNV,"PTPN22:NM_001193431:exon4:c.G355A:p.E119K,PTPN22:NM_001308297:exon4:c.G355A:p.E119K,PTPN22:NM_012411:exon4:c.G355A:p.E119K,PTPN22:NM_015967:exon4:c.G355A:p.E119K",D,D,D,T,D,D
chr1,144813815,144813815,A,G,P310851_S,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,145293573,145293573,G,C,P310851_S,NBPF10,Missense_Mutation,NM_001039703,exon1,c.G168C,p.K56N,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon1:c.G168C:p.K56N,NBPF10:NM_001302371:exon1:c.G168C:p.K56N",.,.,N,.,.,T
chr1,152276490,152276490,C,T,P310851_S,FLG,Silent,NM_002016,exon3,c.G10872A,p.E3624E,SNP,SNVindel,exonic,FLG,NA,synonymous SNV,FLG:NM_002016:exon3:c.G10872A:p.E3624E,NA,NA,NA,NA,NA,NA
chr1,207520884,207520884,C,T,P310851_S,CD55,Missense_Mutation,NM_001300903,exon10,c.C1174T,p.R392C,SNP,SNVindel,exonic,CD55,NA,nonsynonymous SNV,CD55:NM_001300903:exon10:c.C1174T:p.R392C,NA,NA,NA,NA,NA,NA
chr2,112940451,112940451,C,T,P310851_S,FBLN7,Missense_Mutation,NM_001128165,exon5,c.C616T,p.R206C,SNP,SNVindel,exonic,FBLN7,NA,nonsynonymous SNV,"FBLN7:NM_001128165:exon5:c.C616T:p.R206C,FBLN7:NM_153214:exon6:c.C754T:p.R252C",D,D,D,D,D,D
chr3,100354668,100354668,G,T,P310851_S,ADGRG7,Nonsense_Mutation,NM_032787,exon5,c.G595T,p.E199X,SNP,SNVindel,exonic,ADGRG7,NA,stopgain,ADGRG7:NM_032787:exon5:c.G595T:p.E199X,.,N,A,.,.,.
chr3,110830939,110830939,T,A,P310851_S,NECTIN3,Missense_Mutation,NM_001243286,exon2,c.T223A,p.S75T,SNP,SNVindel,exonic,NECTIN3,NA,nonsynonymous SNV,"NECTIN3:NM_001243286:exon2:c.T223A:p.S75T,NECTIN3:NM_001243288:exon2:c.T154A:p.S52T,NECTIN3:NM_015480:exon2:c.T223A:p.S75T",T,D,D,T,N,T
chr3,185169088,185169088,C,T,P310851_S,MAP3K13,Nonsense_Mutation,NM_001242317,exon6,c.C562T,p.R188X,SNP,SNVindel,exonic,MAP3K13,NA,stopgain,"MAP3K13:NM_001242317:exon6:c.C562T:p.R188X,MAP3K13:NM_004721:exon7:c.C1183T:p.R395X,MAP3K13:NM_001242314:exon8:c.C1183T:p.R395X",.,D,A,.,.,.
chr4,1019088,1019088,T,A,P310851_S,FGFRL1,Missense_Mutation,NM_021923,exon6,c.T1468A,p.S490T,SNP,SNVindel,exonic,FGFRL1,NA,nonsynonymous SNV,"FGFRL1:NM_021923:exon6:c.T1468A:p.S490T,FGFRL1:NM_001004356:exon7:c.T1468A:p.S490T,FGFRL1:NM_001004358:exon7:c.T1468A:p.S490T,FGFRL1:NM_001370296:exon7:c.T1468A:p.S490T",D,N,D,T,N,T
chr4,148886255,148886255,G,T,P310851_S,ARHGAP10,Missense_Mutation,NM_024605,exon17,c.G1531T,p.D511Y,SNP,SNVindel,exonic,ARHGAP10,NA,nonsynonymous SNV,ARHGAP10:NM_024605:exon17:c.G1531T:p.D511Y,D,D,D,T,D,T
chr4,190874255,190874255,A,T,P310851_S,FRG1,Missense_Mutation,NM_004477,exon4,c.A292T,p.T98S,SNP,SNVindel,exonic,FRG1,NA,nonsynonymous SNV,FRG1:NM_004477:exon4:c.A292T:p.T98S,D,D,D,T,D,T
chr5,21751869,21751869,A,G,P310851_S,CDH12,Missense_Mutation,NM_001364109,exon10,c.T1690C,p.Y564H,SNP,SNVindel,exonic,CDH12,NA,nonsynonymous SNV,"CDH12:NM_001364109:exon10:c.T1690C:p.Y564H,CDH12:NM_001317227:exon12:c.T2362C:p.Y788H,CDH12:NM_001317228:exon12:c.T2242C:p.Y748H,CDH12:NM_001364107:exon13:c.T2362C:p.Y788H,CDH12:NM_001364108:exon13:c.T2362C:p.Y788H,CDH12:NM_001364104:exon14:c.T2362C:p.Y788H,CDH12:NM_001364106:exon15:c.T2362C:p.Y788H,CDH12:NM_004061:exon15:c.T2362C:p.Y788H,CDH12:NM_001364105:exon16:c.T2362C:p.Y788H",T,N,N,T,N,T
chr6,35088722,35088722,G,A,P310851_S,TCP11,Missense_Mutation,NM_001366329,exon4,c.C256T,p.R86W,SNP,SNVindel,exonic,TCP11,NA,nonsynonymous SNV,"TCP11:NM_001366329:exon4:c.C256T:p.R86W,TCP11:NM_001366330:exon4:c.C256T:p.R86W,TCP11:NM_001366332:exon4:c.C256T:p.R86W,TCP11:NM_001261818:exon5:c.C580T:p.R194W,TCP11:NM_001261819:exon5:c.C565T:p.R189W,TCP11:NM_001366324:exon5:c.C493T:p.R165W,TCP11:NM_001366325:exon5:c.C565T:p.R189W,TCP11:NM_001366326:exon5:c.C343T:p.R115W,TCP11:NM_001366327:exon5:c.C256T:p.R86W,TCP11:NM_001366328:exon5:c.C256T:p.R86W,TCP11:NM_001261817:exon6:c.C664T:p.R222W,TCP11:NM_001366323:exon6:c.C490T:p.R164W,TCP11:NM_001370687:exon6:c.C679T:p.R227W,TCP11:NM_018679:exon6:c.C493T:p.R165W,TCP11:NM_001261820:exon7:c.C490T:p.R164W,TCP11:NM_001261821:exon7:c.C490T:p.R164W,TCP11:NM_001366331:exon7:c.C76T:p.R26W",D,D,D,T,D,T
chr6,42996920,42996920,G,A,P310851_S,RRP36,Missense_Mutation,NM_001329704,exon7,c.G719A,p.R240Q,SNP,SNVindel,exonic,RRP36,NA,nonsynonymous SNV,"RRP36:NM_001329704:exon7:c.G719A:p.R240Q,RRP36:NM_033112:exon7:c.G734A:p.R245Q",D,D,D,T,N,T
chr6,44247937,44247937,G,A,P310851_S,TCTE1,Missense_Mutation,NM_182539,exon5,c.C1487T,p.P496L,SNP,SNVindel,exonic,TCTE1,NA,nonsynonymous SNV,TCTE1:NM_182539:exon5:c.C1487T:p.P496L,T,N,N,T,N,T
chr6,157527547,157527547,G,A,P310851_S,ARID1B,Missense_Mutation,NM_001363725,exon18,c.G3142A,p.D1048N,SNP,SNVindel,exonic,ARID1B,NA,nonsynonymous SNV,"ARID1B:NM_001363725:exon18:c.G3142A:p.D1048N,ARID1B:NM_017519:exon19:c.G5233A:p.D1745N,ARID1B:NM_001346813:exon20:c.G5392A:p.D1798N,ARID1B:NM_020732:exon20:c.G5272A:p.D1758N",T,N,N,T,N,T
chr7,43540911,43540911,G,A,P310851_S,HECW1,Silent,NM_001287059,exon19,c.G3519A,p.Q1173Q,SNP,SNVindel,exonic,HECW1,NA,synonymous SNV,"HECW1:NM_001287059:exon19:c.G3519A:p.Q1173Q,HECW1:NM_015052:exon21:c.G3621A:p.Q1207Q",NA,NA,NA,NA,NA,NA
chr7,103179767,103179767,A,G,P310851_S,RELN,Missense_Mutation,NM_005045,exon45,c.T6938C,p.I2313T,SNP,SNVindel,exonic,RELN,NA,nonsynonymous SNV,"RELN:NM_005045:exon45:c.T6938C:p.I2313T,RELN:NM_173054:exon45:c.T6938C:p.I2313T",D,D,D,T,N,T
chr7,128414590,128414590,A,C,P310851_S,OPN1SW,Missense_Mutation,NM_001708,exon3,c.T649G,p.C217G,SNP,SNVindel,exonic,OPN1SW,NA,nonsynonymous SNV,OPN1SW:NM_001708:exon3:c.T649G:p.C217G,D,D,D,T,D,T
chr8,623872,623872,A,T,P310851_S,ERICH1,Missense_Mutation,NM_001303100,exon4,c.T480A,p.N160K,SNP,SNVindel,exonic,ERICH1,NA,nonsynonymous SNV,"ERICH1:NM_001303100:exon4:c.T480A:p.N160K,ERICH1:NM_207332:exon4:c.T480A:p.N160K",D,D,D,T,D,T
chr8,37692797,37692797,C,T,P310851_S,ADGRA2,Missense_Mutation,NM_032777,exon12,c.C1714T,p.R572W,SNP,SNVindel,exonic,ADGRA2,NA,nonsynonymous SNV,ADGRA2:NM_032777:exon12:c.C1714T:p.R572W,T,N,D,T,N,T
chr8,42614212,42614212,G,A,P310851_S,CHRNA6,Silent,NM_004198,exon3,c.C264T,p.H88H,SNP,SNVindel,exonic,CHRNA6,NA,synonymous SNV,CHRNA6:NM_004198:exon3:c.C264T:p.H88H,NA,NA,NA,NA,NA,NA
chr8,134057316,134057316,G,A,P310851_S,SLA,Missense_Mutation,NM_001282965,exon5,c.C73T,p.R25C,SNP,SNVindel,exonic,SLA,NA,nonsynonymous SNV,"SLA:NM_001282965:exon5:c.C73T:p.R25C,SLA:NM_006748:exon5:c.C517T:p.R173C,SLA:NM_001045557:exon6:c.C448T:p.R150C,SLA:NM_001045556:exon7:c.C397T:p.R133C",D,D,D,T,D,D
chr9,90536712,90536712,T,C,P310851_S,SPATA31C1,Silent,NM_001145124,exon4,c.T1890C,p.S630S,SNP,SNVindel,exonic,SPATA31C1,NA,synonymous SNV,SPATA31C1:NM_001145124:exon4:c.T1890C:p.S630S,NA,NA,NA,NA,NA,NA
chr9,133501797,133501797,G,A,P310851_S,FUBP3,Missense_Mutation,NM_003934,exon12,c.G1022A,p.R341H,SNP,SNVindel,exonic,FUBP3,NA,nonsynonymous SNV,FUBP3:NM_003934:exon12:c.G1022A:p.R341H,T,D,D,T,D,T
chr11,57466548,57466548,G,A,P310851_S,ZDHHC5,Missense_Mutation,NM_015457,exon11,c.G1640A,p.R547Q,SNP,SNVindel,exonic,ZDHHC5,NA,nonsynonymous SNV,ZDHHC5:NM_015457:exon11:c.G1640A:p.R547Q,D,N,D,T,N,T
chr11,62296030,62296030,A,G,P310851_S,AHNAK,Silent,NM_001346445,exon5,c.T5859C,p.G1953G,SNP,SNVindel,exonic,AHNAK,NA,synonymous SNV,"AHNAK:NM_001346445:exon5:c.T5859C:p.G1953G,AHNAK:NM_001346446:exon5:c.T5859C:p.G1953G,AHNAK:NM_001620:exon5:c.T5859C:p.G1953G",NA,NA,NA,NA,NA,NA
chr12,1740586,1740586,C,T,P310851_S,WNT5B,Silent,NM_030775,exon2,c.C66T,p.D22D,SNP,SNVindel,exonic,WNT5B,NA,synonymous SNV,"WNT5B:NM_030775:exon2:c.C66T:p.D22D,WNT5B:NM_032642:exon2:c.C66T:p.D22D",NA,NA,NA,NA,NA,NA
chr12,31256795,31256795,G,A,P310851_S,DDX11,Missense_Mutation,NM_001257144,exon27,c.G2741A,p.R914H,SNP,SNVindel,exonic,DDX11,NA,nonsynonymous SNV,"DDX11:NM_001257144:exon27:c.G2741A:p.R914H,DDX11:NM_152438:exon27:c.G2741A:p.R914H",D,.,N,T,N,T
chr12,54676221,54676221,A,G,P310851_S,HNRNPA1,Silent,NM_002136,exon5,c.A534G,p.R178R,SNP,SNVindel,exonic,HNRNPA1,NA,synonymous SNV,"HNRNPA1:NM_002136:exon5:c.A534G:p.R178R,HNRNPA1:NM_031157:exon5:c.A534G:p.R178R",NA,NA,NA,NA,NA,NA
chr12,56631437,56631437,G,A,P310851_S,SLC39A5,Silent,NM_001135195,exon11,c.G1545A,p.G515G,SNP,SNVindel,exonic,SLC39A5,NA,synonymous SNV,"SLC39A5:NM_001135195:exon11:c.G1545A:p.G515G,SLC39A5:NM_173596:exon13:c.G1545A:p.G515G",NA,NA,NA,NA,NA,NA
chr12,112148158,112148158,G,C,P310851_S,ACAD10,Missense_Mutation,NM_001136538,exon6,c.G772C,p.V258L,SNP,SNVindel,exonic,ACAD10,NA,nonsynonymous SNV,ACAD10:NM_001136538:exon6:c.G772C:p.V258L,T,.,N,T,N,T
chr13,25281301,25281301,C,T,P310851_S,ATP12A,Silent,NM_001185085,exon16,c.C2328T,p.F776F,SNP,SNVindel,exonic,ATP12A,NA,synonymous SNV,"ATP12A:NM_001185085:exon16:c.C2328T:p.F776F,ATP12A:NM_001676:exon16:c.C2310T:p.F770F",NA,NA,NA,NA,NA,NA
chr15,43075696,43075696,C,G,P310851_S,TTBK2,Missense_Mutation,NM_173500,exon11,c.G1118C,p.G373A,SNP,SNVindel,exonic,TTBK2,NA,nonsynonymous SNV,TTBK2:NM_173500:exon11:c.G1118C:p.G373A,T,N,D,T,N,T
chr16,21847742,21847742,A,G,P310851_S,NPIPB4,Missense_Mutation,NM_001310148,exon8,c.T1966C,p.Y656H,SNP,SNVindel,exonic,NPIPB4,NA,nonsynonymous SNV,NPIPB4:NM_001310148:exon8:c.T1966C:p.Y656H,T,.,.,T,N,T
chr16,27500421,27500421,G,A,P310851_S,GTF3C1,Silent,NM_001286242,exon21,c.C3372T,p.Y1124Y,SNP,SNVindel,exonic,GTF3C1,NA,synonymous SNV,"GTF3C1:NM_001286242:exon21:c.C3372T:p.Y1124Y,GTF3C1:NM_001520:exon21:c.C3372T:p.Y1124Y",NA,NA,NA,NA,NA,NA
chr16,31196420,31196420,C,T,P310851_S,FUS,Silent,NM_001170634,exon6,c.C681T,p.G227G,SNP,SNVindel,exonic,FUS,NA,synonymous SNV,"FUS:NM_001170634:exon6:c.C681T:p.G227G,FUS:NM_001170937:exon6:c.C672T:p.G224G,FUS:NM_004960:exon6:c.C684T:p.G228G",NA,NA,NA,NA,NA,NA
chr16,49671511,49671511,A,G,P310851_S,ZNF423,Missense_Mutation,NM_001330533,exon2,c.T1201C,p.F401L,SNP,SNVindel,exonic,ZNF423,NA,nonsynonymous SNV,"ZNF423:NM_001330533:exon2:c.T1201C:p.F401L,ZNF423:NM_001271620:exon4:c.T1372C:p.F458L,ZNF423:NM_015069:exon4:c.T1552C:p.F518L",D,D,D,T,N,T
chr16,74425380,74425380,G,A,P310851_S,NPIPB15,Missense_Mutation,NM_001306094,exon7,c.G734A,p.R245H,SNP,SNVindel,exonic,NPIPB15,NA,nonsynonymous SNV,NPIPB15:NM_001306094:exon7:c.G734A:p.R245H,T,.,N,T,N,T
chr17,7579313,7579313,G,C,P310851_S,TP53,Missense_Mutation,NM_001126118,exon3,c.C257G,p.T86R,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126118:exon3:c.C257G:p.T86R,TP53:NM_000546:exon4:c.C374G:p.T125R,TP53:NM_001126112:exon4:c.C374G:p.T125R,TP53:NM_001126113:exon4:c.C374G:p.T125R,TP53:NM_001126114:exon4:c.C374G:p.T125R,TP53:NM_001276695:exon4:c.C257G:p.T86R,TP53:NM_001276696:exon4:c.C257G:p.T86R,TP53:NM_001276760:exon4:c.C257G:p.T86R,TP53:NM_001276761:exon4:c.C257G:p.T86R",D,D,D,D,D,D
chr17,65850547,65850547,G,A,P310851_S,BPTF,Missense_Mutation,NM_004459,exon2,c.G1105A,p.D369N,SNP,SNVindel,exonic,BPTF,NA,nonsynonymous SNV,"BPTF:NM_004459:exon2:c.G1105A:p.D369N,BPTF:NM_182641:exon2:c.G1105A:p.D369N",T,.,D,D,D,D
chr17,72436710,72436710,C,T,P310851_S,GPRC5C,Silent,NM_001366261,exon2,c.C795T,p.Y265Y,SNP,SNVindel,exonic,GPRC5C,NA,synonymous SNV,"GPRC5C:NM_001366261:exon2:c.C795T:p.Y265Y,GPRC5C:NM_001366262:exon2:c.C795T:p.Y265Y,GPRC5C:NM_018653:exon2:c.C795T:p.Y265Y,GPRC5C:NM_022036:exon2:c.C795T:p.Y265Y",NA,NA,NA,NA,NA,NA
chr18,8720417,8720417,G,A,P310851_S,MTCL1,Missense_Mutation,NM_015210,exon4,c.G280A,p.E94K,SNP,SNVindel,exonic,MTCL1,NA,nonsynonymous SNV,MTCL1:NM_015210:exon4:c.G280A:p.E94K,D,N,D,T,D,D
chr19,613254,613254,G,A,P310851_S,HCN2,Missense_Mutation,NM_001194,exon6,c.G1591A,p.V531I,SNP,SNVindel,exonic,HCN2,NA,nonsynonymous SNV,HCN2:NM_001194:exon6:c.G1591A:p.V531I,T,.,D,D,N,D
chr19,5231415,5231415,C,T,P310851_S,PTPRS,Silent,NM_130854,exon11,c.G2022A,p.E674E,SNP,SNVindel,exonic,PTPRS,NA,synonymous SNV,"PTPRS:NM_130854:exon11:c.G2022A:p.E674E,PTPRS:NM_002850:exon14:c.G2061A:p.E687E",NA,NA,NA,NA,NA,NA
chr19,10431373,10431373,G,A,P310851_S,RAVER1,Silent,NM_133452,exon9,c.C1728T,p.P576P,SNP,SNVindel,exonic,RAVER1,NA,synonymous SNV,"RAVER1:NM_133452:exon9:c.C1728T:p.P576P,RAVER1:NM_001366174:exon10:c.C1653T:p.P551P",NA,NA,NA,NA,NA,NA
chr19,22156234,22156234,G,A,P310851_S,ZNF208,Silent,NM_007153,exon4,c.C1602T,p.F534F,SNP,SNVindel,exonic,ZNF208,NA,synonymous SNV,ZNF208:NM_007153:exon4:c.C1602T:p.F534F,NA,NA,NA,NA,NA,NA
chr19,23542792,23542792,C,T,P310851_S,ZNF91,Missense_Mutation,NM_001300951,exon3,c.G2893A,p.E965K,SNP,SNVindel,exonic,ZNF91,NA,nonsynonymous SNV,"ZNF91:NM_001300951:exon3:c.G2893A:p.E965K,ZNF91:NM_003430:exon4:c.G2989A:p.E997K",T,.,N,T,N,T
chr19,47844106,47844106,C,T,P310851_S,C5AR2,Missense_Mutation,NM_001271749,exon2,c.C50T,p.S17L,SNP,SNVindel,exonic,C5AR2,NA,nonsynonymous SNV,"C5AR2:NM_001271749:exon2:c.C50T:p.S17L,C5AR2:NM_001271750:exon2:c.C50T:p.S17L,C5AR2:NM_018485:exon2:c.C50T:p.S17L",.,N,N,T,.,T
chr19,50714027,50714027,C,T,P310851_S,MYH14,Silent,NM_001077186,exon2,c.C405T,p.Y135Y,SNP,SNVindel,exonic,MYH14,NA,synonymous SNV,"MYH14:NM_001077186:exon2:c.C405T:p.Y135Y,MYH14:NM_001145809:exon2:c.C405T:p.Y135Y,MYH14:NM_024729:exon2:c.C405T:p.Y135Y",NA,NA,NA,NA,NA,NA
chr19,54314328,54314328,C,T,P310851_S,NLRP12,Silent,NM_001277126,exon3,c.G585A,p.K195K,SNP,SNVindel,exonic,NLRP12,NA,synonymous SNV,"NLRP12:NM_001277126:exon3:c.G585A:p.K195K,NLRP12:NM_001277129:exon3:c.G585A:p.K195K,NLRP12:NM_144687:exon3:c.G585A:p.K195K",NA,NA,NA,NA,NA,NA
chr19,56030225,56030225,C,T,P310851_S,SSC5D,Silent,NM_001144950,exon14,c.C4582T,p.L1528L,SNP,SNVindel,exonic,SSC5D,NA,synonymous SNV,SSC5D:NM_001144950:exon14:c.C4582T:p.L1528L,NA,NA,NA,NA,NA,NA
chr20,2443377,2443377,G,A,P310851_S,SNRPB,Missense_Mutation,NM_003091,exon6,c.C590T,p.P197L,SNP,SNVindel,exonic,SNRPB,NA,nonsynonymous SNV,"SNRPB:NM_003091:exon6:c.C590T:p.P197L,SNRPB:NM_198216:exon6:c.C590T:p.P197L",D,D,D,T,N,T
chr21,42647540,42647540,C,T,P310851_S,BACE2,Missense_Mutation,NM_138991,exon8,c.C1396T,p.R466C,SNP,SNVindel,exonic,BACE2,NA,nonsynonymous SNV,"BACE2:NM_138991:exon8:c.C1396T:p.R466C,BACE2:NM_012105:exon9:c.C1546T:p.R516C",D,N,D,T,D,T
chr21,47918533,47918533,C,T,P310851_S,DIP2A,Nonsense_Mutation,NM_001146115,exon5,c.C442T,p.R148X,SNP,SNVindel,exonic,DIP2A,NA,stopgain,"DIP2A:NM_001146115:exon5:c.C442T:p.R148X,DIP2A:NM_001146116:exon5:c.C442T:p.R148X,DIP2A:NM_001353942:exon5:c.C442T:p.R148X,DIP2A:NM_001353943:exon5:c.C442T:p.R148X,DIP2A:NM_015151:exon5:c.C442T:p.R148X,DIP2A:NM_206889:exon5:c.C442T:p.R148X,DIP2A:NM_206890:exon5:c.C442T:p.R148X,DIP2A:NM_206891:exon5:c.C442T:p.R148X",.,N,A,.,.,.
chrX,12937238,12937238,G,A,P310851_S,TLR8,Missense_Mutation,NM_138636,exon2,c.G79A,p.E27K,SNP,SNVindel,exonic,TLR8,NA,nonsynonymous SNV,"TLR8:NM_138636:exon2:c.G79A:p.E27K,TLR8:NM_016610:exon3:c.G133A:p.E45K",T,N,N,T,N,T
chrX,17745772,17745772,G,A,P310851_S,NHS,Silent,NM_001291868,exon6,c.G2952A,p.P984P,SNP,SNVindel,exonic,NHS,NA,synonymous SNV,"NHS:NM_001291868:exon6:c.G2952A:p.P984P,NHS:NM_198270:exon6:c.G3483A:p.P1161P,NHS:NM_001136024:exon7:c.G3015A:p.P1005P,NHS:NM_001291867:exon7:c.G3546A:p.P1182P",NA,NA,NA,NA,NA,NA
chrX,91873599,91873599,C,G,P310851_S,PCDH11X,Missense_Mutation,NM_001168362,exon5,c.C3593G,p.P1198R,SNP,SNVindel,exonic,PCDH11X,NA,nonsynonymous SNV,"PCDH11X:NM_001168362:exon5:c.C3593G:p.P1198R,PCDH11X:NM_001168363:exon5:c.C3650G:p.P1217R,PCDH11X:NM_001168360:exon6:c.C3680G:p.P1227R,PCDH11X:NM_032969:exon6:c.C3674G:p.P1225R,PCDH11X:NM_032968:exon7:c.C3704G:p.P1235R",D,.,N,T,N,T
chrX,102586467,102586467,G,A,P310851_S,TCEAL7,Missense_Mutation,NM_001348258,exon3,c.G136A,p.E46K,SNP,SNVindel,exonic,TCEAL7,NA,nonsynonymous SNV,"TCEAL7:NM_001348258:exon3:c.G136A:p.E46K,TCEAL7:NM_152278:exon3:c.G136A:p.E46K",T,N,N,T,N,T
chrX,122318491,122318491,G,A,P310851_S,GRIA3,Missense_Mutation,NM_000828,exon1,c.G104A,p.S35N,SNP,SNVindel,exonic,GRIA3,NA,nonsynonymous SNV,"GRIA3:NM_000828:exon1:c.G104A:p.S35N,GRIA3:NM_001256743:exon1:c.G104A:p.S35N,GRIA3:NM_007325:exon1:c.G104A:p.S35N",.,D,D,.,.,T
chr1,153659558,153659558,G,A,P318050_F,NPR1,Missense_Mutation,NM_000906,exon12,c.G1930A,p.V644I,SNP,SNVindel,exonic,NPR1,NA,nonsynonymous SNV,NPR1:NM_000906:exon12:c.G1930A:p.V644I,T,D,D,D,N,T
chr1,201030461,201030461,G,A,P318050_F,CACNA1S,Silent,NM_000069,exon25,c.C3189T,p.F1063F,SNP,SNVindel,exonic,CACNA1S,NA,synonymous SNV,CACNA1S:NM_000069:exon25:c.C3189T:p.F1063F,NA,NA,NA,NA,NA,NA
chr12,2788861,2788861,C,T,P318050_F,CACNA1C,Silent,NM_001129837,exon41,c.C5367T,p.P1789P,SNP,SNVindel,exonic,CACNA1C,NA,synonymous SNV,"CACNA1C:NM_001129837:exon41:c.C5367T:p.P1789P,CACNA1C:NM_001129838:exon41:c.C5367T:p.P1789P,CACNA1C:NM_001129839:exon41:c.C5361T:p.P1787P,CACNA1C:NM_001129846:exon41:c.C5310T:p.P1770P,CACNA1C:NM_001167625:exon41:c.C5310T:p.P1770P,CACNA1C:NM_000719:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129829:exon42:c.C5466T:p.P1822P,CACNA1C:NM_001129830:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129833:exon42:c.C5400T:p.P1800P,CACNA1C:NM_001129834:exon42:c.C5400T:p.P1800P,CACNA1C:NM_001129835:exon42:c.C5400T:p.P1800P,CACNA1C:NM_001129836:exon42:c.C5394T:p.P1798P,CACNA1C:NM_001129840:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129841:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129842:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129843:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129844:exon42:c.C5334T:p.P1778P,CACNA1C:NM_001167623:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001167624:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129831:exon43:c.C5427T:p.P1809P,CACNA1C:NM_001129832:exon43:c.C5403T:p.P1801P,CACNA1C:NM_001129827:exon44:c.C5487T:p.P1829P,CACNA1C:NM_199460:exon44:c.C5487T:p.P1829P",NA,NA,NA,NA,NA,NA
chr15,41276477,41276477,G,A,P318050_F,INO80,Missense_Mutation,NM_017553,exon33,c.C3995T,p.S1332L,SNP,SNVindel,exonic,INO80,NA,nonsynonymous SNV,INO80:NM_017553:exon33:c.C3995T:p.S1332L,D,D,D,D,N,D
chr16,31424258,31424258,G,A,P318050_F,ITGAD,Missense_Mutation,NM_001318185,exon15,c.G1810A,p.V604M,SNP,SNVindel,exonic,ITGAD,NA,nonsynonymous SNV,"ITGAD:NM_001318185:exon15:c.G1810A:p.V604M,ITGAD:NM_005353:exon15:c.G1807A:p.V603M",D,.,D,T,D,D
chr18,55359125,55359125,G,A,P318050_F,ATP8B1,Silent,NM_005603,exon12,c.C1134T,p.D378D,SNP,SNVindel,exonic,ATP8B1,NA,synonymous SNV,ATP8B1:NM_005603:exon12:c.C1134T:p.D378D,NA,NA,NA,NA,NA,NA
chr19,40720989,40720989,G,A,P318050_F,MAP3K10,Silent,NM_002446,exon10,c.G2655A,p.P885P,SNP,SNVindel,exonic,MAP3K10,NA,synonymous SNV,MAP3K10:NM_002446:exon10:c.G2655A:p.P885P,NA,NA,NA,NA,NA,NA
chr20,36954723,36954723,G,A,P318050_F,BPI,Silent,NM_001725,exon10,c.G1062A,p.P354P,SNP,SNVindel,exonic,BPI,NA,synonymous SNV,BPI:NM_001725:exon10:c.G1062A:p.P354P,NA,NA,NA,NA,NA,NA
chr22,50685110,50685110,G,A,P318050_F,HDAC10,Silent,NM_001159286,exon15,c.C1509T,p.D503D,SNP,SNVindel,exonic,HDAC10,NA,synonymous SNV,"HDAC10:NM_001159286:exon15:c.C1509T:p.D503D,HDAC10:NM_032019:exon16:c.C1569T:p.D523D",NA,NA,NA,NA,NA,NA
chr3,38153726,38153726,C,T,P318050_F,DLEC1,Silent,NM_001321153,exon25,c.C3549T,p.H1183H,SNP,SNVindel,exonic,DLEC1,NA,synonymous SNV,"DLEC1:NM_001321153:exon25:c.C3549T:p.H1183H,DLEC1:NM_007335:exon25:c.C3540T:p.H1180H,DLEC1:NM_007337:exon25:c.C3540T:p.H1180H",NA,NA,NA,NA,NA,NA
chr3,74350836,74350836,C,T,P318050_F,CNTN3,Missense_Mutation,NM_020872,exon14,c.G1907A,p.R636Q,SNP,SNVindel,exonic,CNTN3,NA,nonsynonymous SNV,CNTN3:NM_020872:exon14:c.G1907A:p.R636Q,D,N,D,T,D,T
chr4,83372300,83372300,G,A,P318050_F,ENOPH1,Silent,NM_001292017,exon3,c.G27A,p.V9V,SNP,SNVindel,exonic,ENOPH1,NA,synonymous SNV,"ENOPH1:NM_001292017:exon3:c.G27A:p.V9V,ENOPH1:NM_021204:exon3:c.G291A:p.V97V",NA,NA,NA,NA,NA,NA
chr6,43184156,43184156,G,A,P318050_F,CUL9,Missense_Mutation,NM_015089,exon31,c.G6197A,p.R2066Q,SNP,SNVindel,exonic,CUL9,NA,nonsynonymous SNV,CUL9:NM_015089:exon31:c.G6197A:p.R2066Q,T,N,N,T,N,T
chr9,115928418,115928418,C,T,P318050_F,FKBP15,Silent,NM_015258,exon28,c.G3600A,p.P1200P,SNP,SNVindel,exonic,FKBP15,NA,synonymous SNV,FKBP15:NM_015258:exon28:c.G3600A:p.P1200P,NA,NA,NA,NA,NA,NA
chr16,48218359,48218359,C,T,P318050_F,ABCC11,Missense_Mutation,NM_033151,exon22,c.G3250A,p.V1084M,SNP,SNVindel,exonic,ABCC11,NA,nonsynonymous SNV,"ABCC11:NM_033151:exon22:c.G3250A:p.V1084M,ABCC11:NM_001370496:exon23:c.G3256A:p.V1086M,ABCC11:NM_001370497:exon23:c.G3250A:p.V1084M,ABCC11:NM_032583:exon24:c.G3250A:p.V1084M,ABCC11:NM_145186:exon24:c.G3250A:p.V1084M",T,N,N,D,N,T
chr19,49309937,49309937,T,C,P318050_F,BCAT2,Missense_Mutation,NM_001190,exon3,c.A137G,p.H46R,SNP,SNVindel,exonic,BCAT2,NA,nonsynonymous SNV,"BCAT2:NM_001190:exon3:c.A137G:p.H46R,BCAT2:NM_001284325:exon4:c.A17G:p.H6R",T,N,N,T,N,T
chr19,56539847,56539847,G,A,P318050_F,NLRP5,Missense_Mutation,NM_153447,exon7,c.G2248A,p.A750T,SNP,SNVindel,exonic,NLRP5,NA,nonsynonymous SNV,NLRP5:NM_153447:exon7:c.G2248A:p.A750T,T,N,N,D,N,T
chr1,228334601,228334601,C,T,P318050_F,GUK1,Silent,NM_001159390,exon4,c.C276T,p.I92I,SNP,SNVindel,exonic,GUK1,NA,synonymous SNV,"GUK1:NM_001159390:exon4:c.C276T:p.I92I,GUK1:NM_001159391:exon4:c.C213T:p.I71I,GUK1:NM_001242839:exon4:c.C213T:p.I71I,GUK1:NM_001242840:exon4:c.C276T:p.I92I,GUK1:NM_000858:exon5:c.C213T:p.I71I",NA,NA,NA,NA,NA,NA
chr5,132209691,132209691,G,A,P318050_F,LEAP2,Missense_Mutation,NM_052971,exon2,c.G107A,p.R36Q,SNP,SNVindel,exonic,LEAP2,NA,nonsynonymous SNV,LEAP2:NM_052971:exon2:c.G107A:p.R36Q,T,N,N,.,N,T
chr17,9808215,9808215,C,T,P318050_F,RCVRN,Missense_Mutation,NM_002903,exon1,c.G283A,p.A95T,SNP,SNVindel,exonic,RCVRN,NA,nonsynonymous SNV,RCVRN:NM_002903:exon1:c.G283A:p.A95T,T,N,N,T,N,T
chr8,21965325,21965325,G,A,P318050_F,NUDT18,Missense_Mutation,NM_024815,exon5,c.C458T,p.P153L,SNP,SNVindel,exonic,NUDT18,NA,nonsynonymous SNV,NUDT18:NM_024815:exon5:c.C458T:p.P153L,.,D,D,.,.,T
chr19,52249880,52249880,C,T,P318050_F,FPR1,Missense_Mutation,NM_002029,exon2,c.G368A,p.R123H,SNP,SNVindel,exonic,FPR1,NA,nonsynonymous SNV,"FPR1:NM_002029:exon2:c.G368A:p.R123H,FPR1:NM_001193306:exon3:c.G368A:p.R123H",D,D,D,D,D,D
chr16,2051656,2051656,C,T,P318050_F,ZNF598,Missense_Mutation,NM_178167,exon8,c.G941A,p.R314H,SNP,SNVindel,exonic,ZNF598,NA,nonsynonymous SNV,ZNF598:NM_178167:exon8:c.G941A:p.R314H,D,D,D,T,N,T
chr16,20793084,20793084,A,G,P318050_F,ACSM3,Missense_Mutation,NM_005622,exon7,c.A994G,p.M332V,SNP,SNVindel,exonic,ACSM3,NA,nonsynonymous SNV,"ACSM3:NM_005622:exon7:c.A994G:p.M332V,ACSM3:NM_202000:exon7:c.A994G:p.M332V",D,D,D,T,D,T
chr11,62910885,62910885,C,T,P318050_F,SLC22A24,Missense_Mutation,NM_001136506,exon1,c.G367A,p.D123N,SNP,SNVindel,exonic,SLC22A24,NA,nonsynonymous SNV,"SLC22A24:NM_001136506:exon1:c.G367A:p.D123N,SLC22A24:NM_173586:exon1:c.G367A:p.D123N",D,U,N,T,D,T
chr12,114395768,114395768,G,A,P318050_F,RBM19,Missense_Mutation,NM_001146698,exon6,c.C659T,p.S220L,SNP,SNVindel,exonic,RBM19,NA,nonsynonymous SNV,"RBM19:NM_001146698:exon6:c.C659T:p.S220L,RBM19:NM_001146699:exon6:c.C659T:p.S220L,RBM19:NM_016196:exon6:c.C659T:p.S220L",T,N,N,T,N,T
chr1,182772897,182772897,A,G,P318050_F,NPL,Missense_Mutation,NM_001200051,exon4,c.A133G,p.N45D,SNP,SNVindel,exonic,NPL,NA,nonsynonymous SNV,"NPL:NM_001200051:exon4:c.A133G:p.N45D,NPL:NM_001200052:exon4:c.A133G:p.N45D,NPL:NM_001200056:exon4:c.A133G:p.N45D,NPL:NM_030769:exon4:c.A133G:p.N45D",D,N,D,D,N,D
chr5,140531761,140531761,T,G,P318050_F,PCDHB6,Silent,NM_018939,exon1,c.T1923G,p.L641L,SNP,SNVindel,exonic,PCDHB6,NA,synonymous SNV,"PCDHB6:NM_018939:exon1:c.T1923G:p.L641L,PCDHB6:NM_001303145:exon2:c.T1515G:p.L505L",NA,NA,NA,NA,NA,NA
chr18,29178611,29178611,G,A,P318050_F,TTR,Silent,NM_000371,exon4,c.G417A,p.T139T,SNP,SNVindel,exonic,TTR,NA,synonymous SNV,TTR:NM_000371:exon4:c.G417A:p.T139T,NA,NA,NA,NA,NA,NA
chr4,72316967,72316967,G,A,P318050_F,SLC4A4,Missense_Mutation,NM_003759,exon8,c.G1139A,p.G380D,SNP,SNVindel,exonic,SLC4A4,NA,nonsynonymous SNV,"SLC4A4:NM_003759:exon8:c.G1139A:p.G380D,SLC4A4:NM_001098484:exon11:c.G1271A:p.G424D,SLC4A4:NM_001134742:exon11:c.G1271A:p.G424D",T,D,D,T,D,T
chr7,132169649,132169649,G,T,P318050_F,PLXNA4,Missense_Mutation,NM_181775,exon5,c.C1495A,p.H499N,SNP,SNVindel,exonic,PLXNA4,NA,nonsynonymous SNV,PLXNA4:NM_181775:exon5:c.C1495A:p.H499N,T,.,N,T,N,T
chr9,101984010,101984010,G,A,P318050_F,ALG2,Missense_Mutation,NM_033087,exon1,c.C167T,p.P56L,SNP,SNVindel,exonic,ALG2,NA,nonsynonymous SNV,ALG2:NM_033087:exon1:c.C167T:p.P56L,D,D,D,T,D,D
chr18,47437,47437,C,T,P318050_F,TUBB8B,Missense_Mutation,NM_001358689,exon4,c.G1288A,p.A430T,SNP,SNVindel,exonic,TUBB8B,NA,nonsynonymous SNV,TUBB8B:NM_001358689:exon4:c.G1288A:p.A430T,.,U,.,T,N,T
chr18,22048821,22048821,T,G,P318050_F,HRH4,Missense_Mutation,NM_021624,exon2,c.T263G,p.V88G,SNP,SNVindel,exonic,HRH4,NA,nonsynonymous SNV,HRH4:NM_021624:exon2:c.T263G:p.V88G,D,N,N,T,N,T
chr1,183086559,183086559,C,T,P318050_F,LAMC1,Missense_Mutation,NM_002293,exon9,c.C1669T,p.R557W,SNP,SNVindel,exonic,LAMC1,NA,nonsynonymous SNV,LAMC1:NM_002293:exon9:c.C1669T:p.R557W,D,D,D,T,N,T
chr2,113764287,113764287,C,T,P318050_F,IL36A,Silent,NM_014440,exon3,c.C237T,p.V79V,SNP,SNVindel,exonic,IL36A,NA,synonymous SNV,IL36A:NM_014440:exon3:c.C237T:p.V79V,NA,NA,NA,NA,NA,NA
chr10,101591418,101591418,G,A,P318050_F,ABCC2,Silent,NM_000392,exon22,c.G2934A,p.S978S,SNP,SNVindel,exonic,ABCC2,NA,synonymous SNV,ABCC2:NM_000392:exon22:c.G2934A:p.S978S,NA,NA,NA,NA,NA,NA
chr4,5755529,5755529,A,C,P318050_F,EVC,Missense_Mutation,NM_001306090,exon10,c.A1333C,p.K445Q,SNP,SNVindel,exonic,EVC,NA,nonsynonymous SNV,"EVC:NM_001306090:exon10:c.A1333C:p.K445Q,EVC:NM_001306092:exon10:c.A1333C:p.K445Q,EVC:NM_153717:exon10:c.A1333C:p.K445Q",T,N,D,T,N,T
chr1,43806166,43806166,G,A,P318050_F,MPL,Missense_Mutation,NM_005373,exon6,c.G962A,p.R321Q,SNP,SNVindel,exonic,MPL,NA,nonsynonymous SNV,MPL:NM_005373:exon6:c.G962A:p.R321Q,T,N,N,T,N,T
chr6,123101544,123101544,C,T,P318050_F,FABP7,Missense_Mutation,NM_001319039,exon2,c.C182T,p.T61M,SNP,SNVindel,exonic,FABP7,NA,nonsynonymous SNV,"FABP7:NM_001319039:exon2:c.C182T:p.T61M,FABP7:NM_001319041:exon2:c.C182T:p.T61M,FABP7:NM_001319042:exon2:c.C170T:p.T57M,FABP7:NM_001446:exon2:c.C182T:p.T61M",D,D,D,T,D,T
chr19,55494204,55494204,C,T,P318050_F,NLRP2,Missense_Mutation,NM_001174082,exon5,c.C1072T,p.R358C,SNP,SNVindel,exonic,NLRP2,NA,nonsynonymous SNV,"NLRP2:NM_001174082:exon5:c.C1072T:p.R358C,NLRP2:NM_001174081:exon6:c.C1138T:p.R380C,NLRP2:NM_001348003:exon6:c.C1129T:p.R377C,NLRP2:NM_017852:exon6:c.C1138T:p.R380C,NLRP2:NM_001174083:exon7:c.C1069T:p.R357C",D,N,N,T,D,T
chr10,5978442,5978442,G,A,P318050_F,FBH1,Silent,NM_178150,exon20,c.G2853A,p.L951L,SNP,SNVindel,exonic,FBH1,NA,synonymous SNV,"FBH1:NM_178150:exon20:c.G2853A:p.L951L,FBH1:NM_001258452:exon21:c.G2682A:p.L894L,FBH1:NM_001258453:exon21:c.G2631A:p.L877L,FBH1:NM_032807:exon21:c.G3006A:p.L1002L",NA,NA,NA,NA,NA,NA
chr5,75581653,75581653,C,T,P318050_F,SV2C,Silent,NM_001297716,exon6,c.C1095T,p.D365D,SNP,SNVindel,exonic,SV2C,NA,synonymous SNV,"SV2C:NM_001297716:exon6:c.C1095T:p.D365D,SV2C:NM_014979:exon6:c.C1095T:p.D365D",NA,NA,NA,NA,NA,NA
chr12,95604074,95604074,T,C,P318050_F,FGD6,Missense_Mutation,NM_018351,exon2,c.A986G,p.K329R,SNP,SNVindel,exonic,FGD6,NA,nonsynonymous SNV,FGD6:NM_018351:exon2:c.A986G:p.K329R,T,N,N,T,N,T
chr2,219694812,219694812,G,A,P318050_F,PRKAG3,Silent,NM_017431,exon4,c.C522T,p.D174D,SNP,SNVindel,exonic,PRKAG3,NA,synonymous SNV,PRKAG3:NM_017431:exon4:c.C522T:p.D174D,NA,NA,NA,NA,NA,NA
chr1,5935110,5935110,G,A,P318050_F,NPHP4,Silent,NM_001291594,exon17,c.C1332T,p.A444A,SNP,SNVindel,exonic,NPHP4,NA,synonymous SNV,"NPHP4:NM_001291594:exon17:c.C1332T:p.A444A,NPHP4:NM_001291593:exon18:c.C1329T:p.A443A,NPHP4:NM_015102:exon21:c.C2868T:p.A956A",NA,NA,NA,NA,NA,NA
chr1,198201732,198201732,A,C,P318050_F,NEK7,Missense_Mutation,NM_133494,exon2,c.A22C,p.M8L,SNP,SNVindel,exonic,NEK7,NA,nonsynonymous SNV,NEK7:NM_133494:exon2:c.A22C:p.M8L,T,N,N,T,N,T
chr1,47399670,47399670,G,T,P318050_F,CYP4A11,Silent,NM_001363587,exon7,c.C876A,p.G292G,SNP,SNVindel,exonic,CYP4A11,NA,synonymous SNV,"CYP4A11:NM_001363587:exon7:c.C876A:p.G292G,CYP4A11:NM_000778:exon9:c.C1170A:p.G390G,CYP4A11:NM_001319155:exon9:c.C1074A:p.G358G",NA,NA,NA,NA,NA,NA
chr1,79470895,79470895,G,A,P318050_F,ADGRL4,Missense_Mutation,NM_022159,exon2,c.C32T,p.S11F,SNP,SNVindel,exonic,ADGRL4,NA,nonsynonymous SNV,ADGRL4:NM_022159:exon2:c.C32T:p.S11F,D,N,D,T,N,T
chr1,120612013,120612013,G,A,P318050_F,NOTCH2,Missense_Mutation,NM_001200001,exon1,c.C8T,p.A3V,SNP,SNVindel,exonic,NOTCH2,NA,nonsynonymous SNV,"NOTCH2:NM_001200001:exon1:c.C8T:p.A3V,NOTCH2:NM_024408:exon1:c.C8T:p.A3V",T,.,N,D,N,T
chr1,120612014,120612014,C,A,P318050_F,NOTCH2,Missense_Mutation,NM_001200001,exon1,c.G7T,p.A3S,SNP,SNVindel,exonic,NOTCH2,NA,nonsynonymous SNV,"NOTCH2:NM_001200001:exon1:c.G7T:p.A3S,NOTCH2:NM_024408:exon1:c.G7T:p.A3S",T,.,N,D,N,T
chr1,248202412,248202412,C,T,P318050_F,OR2L2,Silent,NM_001004686,exon1,c.C843T,p.T281T,SNP,SNVindel,exonic,OR2L2,NA,synonymous SNV,OR2L2:NM_001004686:exon1:c.C843T:p.T281T,NA,NA,NA,NA,NA,NA
chr2,20402923,20402923,G,A,P318050_F,SDC1,Missense_Mutation,NM_002997,exon4,c.C688T,p.R230W,SNP,SNVindel,exonic,SDC1,NA,nonsynonymous SNV,"SDC1:NM_002997:exon4:c.C688T:p.R230W,SDC1:NM_001006946:exon5:c.C688T:p.R230W",D,N,D,T,D,T
chr3,185229345,185229345,C,T,P318050_F,LIPH,Missense_Mutation,NM_139248,exon9,c.G1235A,p.R412Q,SNP,SNVindel,exonic,LIPH,NA,nonsynonymous SNV,LIPH:NM_139248:exon9:c.G1235A:p.R412Q,T,N,D,D,N,T
chr4,10445956,10445956,C,T,P318050_F,ZNF518B,Missense_Mutation,NM_053042,exon3,c.G1997A,p.R666H,SNP,SNVindel,exonic,ZNF518B,NA,nonsynonymous SNV,ZNF518B:NM_053042:exon3:c.G1997A:p.R666H,D,N,N,T,N,T
chr4,71201633,71201633,G,A,P318050_F,CABS1,Missense_Mutation,NM_033122,exon1,c.G877A,p.E293K,SNP,SNVindel,exonic,CABS1,NA,nonsynonymous SNV,CABS1:NM_033122:exon1:c.G877A:p.E293K,T,N,N,T,D,T
chr4,90170438,90170438,G,A,P318050_F,GPRIN3,Missense_Mutation,NM_198281,exon2,c.C824T,p.S275L,SNP,SNVindel,exonic,GPRIN3,NA,nonsynonymous SNV,GPRIN3:NM_198281:exon2:c.C824T:p.S275L,T,N,N,T,N,T
chr4,147561601,147561601,G,A,P318050_F,POU4F2,Missense_Mutation,NM_004575,exon2,c.G871A,p.V291M,SNP,SNVindel,exonic,POU4F2,NA,nonsynonymous SNV,POU4F2:NM_004575:exon2:c.G871A:p.V291M,D,D,D,T,D,D
chr5,75427791,75427791,C,T,P318050_F,SV2C,Silent,NM_001297716,exon2,c.C216T,p.D72D,SNP,SNVindel,exonic,SV2C,NA,synonymous SNV,"SV2C:NM_001297716:exon2:c.C216T:p.D72D,SV2C:NM_014979:exon2:c.C216T:p.D72D",NA,NA,NA,NA,NA,NA
chr5,83402534,83402534,C,T,P318050_F,EDIL3,Missense_Mutation,NM_001278642,exon5,c.G554A,p.R185H,SNP,SNVindel,exonic,EDIL3,NA,nonsynonymous SNV,"EDIL3:NM_001278642:exon5:c.G554A:p.R185H,EDIL3:NM_005711:exon6:c.G584A:p.R195H",D,D,D,D,D,D
chr5,126770443,126770443,C,T,P318050_F,MEGF10,Silent,NM_001256545,exon15,c.C1905T,p.S635S,SNP,SNVindel,exonic,MEGF10,NA,synonymous SNV,"MEGF10:NM_001256545:exon15:c.C1905T:p.S635S,MEGF10:NM_032446:exon16:c.C1905T:p.S635S",NA,NA,NA,NA,NA,NA
chr5,140209679,140209679,C,T,P318050_F,PCDHA6,Missense_Mutation,NM_018909,exon1,c.C2003T,p.S668L,SNP,SNVindel,exonic,PCDHA6,NA,nonsynonymous SNV,"PCDHA6:NM_018909:exon1:c.C2003T:p.S668L,PCDHA6:NM_031848:exon1:c.C2003T:p.S668L",T,U,N,T,D,T
chr5,178408732,178408732,G,A,P318050_F,GRM6,Nonsense_Mutation,NM_000843,exon11,c.C2560T,p.R854X,SNP,SNVindel,exonic,GRM6,NA,stopgain,GRM6:NM_000843:exon11:c.C2560T:p.R854X,.,.,D,.,.,.
chr7,56142415,56142415,G,A,P318050_F,SUMF2,Missense_Mutation,NM_001042469,exon4,c.G476A,p.R159Q,SNP,SNVindel,exonic,SUMF2,NA,nonsynonymous SNV,"SUMF2:NM_001042469:exon4:c.G476A:p.R159Q,SUMF2:NM_001146333:exon4:c.G257A:p.R86Q,SUMF2:NM_001366647:exon4:c.G476A:p.R159Q,SUMF2:NM_001042468:exon5:c.G530A:p.R177Q,SUMF2:NM_001130069:exon5:c.G521A:p.R174Q,SUMF2:NM_001366648:exon5:c.G521A:p.R174Q,SUMF2:NM_015411:exon5:c.G521A:p.R174Q",D,D,D,D,D,D
chr8,126067855,126067855,G,A,P318050_F,WASHC5,Missense_Mutation,NM_001330609,exon16,c.C1631T,p.T544M,SNP,SNVindel,exonic,WASHC5,NA,nonsynonymous SNV,"WASHC5:NM_001330609:exon16:c.C1631T:p.T544M,WASHC5:NM_014846:exon17:c.C2075T:p.T692M",D,D,D,D,D,D
chr8,133856560,133856560,G,A,P318050_F,PHF20L1,Missense_Mutation,NM_001277196,exon19,c.G2830A,p.D944N,SNP,SNVindel,exonic,PHF20L1,NA,nonsynonymous SNV,"PHF20L1:NM_001277196:exon19:c.G2830A:p.D944N,PHF20L1:NM_001362971:exon19:c.G2830A:p.D944N,PHF20L1:NM_016018:exon20:c.G2908A:p.D970N",D,U,D,T,D,T
chr9,27455464,27455464,C,G,P318050_F,MOB3B,Missense_Mutation,NM_024761,exon2,c.G85C,p.E29Q,SNP,SNVindel,exonic,MOB3B,NA,nonsynonymous SNV,MOB3B:NM_024761:exon2:c.G85C:p.E29Q,T,D,D,.,N,T
chr9,43822668,43822668,C,T,P318050_F,CNTNAP3B,Missense_Mutation,NM_001201380,exon8,c.C1222T,p.L408F,SNP,SNVindel,exonic,CNTNAP3B,NA,nonsynonymous SNV,CNTNAP3B:NM_001201380:exon8:c.C1222T:p.L408F,NA,NA,NA,NA,NA,NA
chr9,139944736,139944736,C,G,P318050_F,ENTPD2,Silent,NM_001246,exon6,c.G1029C,p.V343V,SNP,SNVindel,exonic,ENTPD2,NA,synonymous SNV,"ENTPD2:NM_001246:exon6:c.G1029C:p.V343V,ENTPD2:NM_203468:exon6:c.G1029C:p.V343V",NA,NA,NA,NA,NA,NA
chr10,24832140,24832140,C,T,P318050_F,KIAA1217,Missense_Mutation,NM_019590,exon19,c.C3941T,p.T1314M,SNP,SNVindel,exonic,KIAA1217,NA,nonsynonymous SNV,KIAA1217:NM_019590:exon19:c.C3941T:p.T1314M,D,N,N,T,N,T
chr10,89692961,89692961,C,T,P318050_F,PTEN,Nonsense_Mutation,NM_000314,exon5,c.C445T,p.Q149X,SNP,SNVindel,exonic,PTEN,NA,stopgain,"PTEN:NM_000314:exon5:c.C445T:p.Q149X,PTEN:NM_001304717:exon6:c.C964T:p.Q322X",.,D,A,.,.,.
chr10,92509171,92509171,C,T,P318050_F,HTR7,Silent,NM_000872,exon2,c.G720A,p.T240T,SNP,SNVindel,exonic,HTR7,NA,synonymous SNV,"HTR7:NM_000872:exon2:c.G720A:p.T240T,HTR7:NM_019859:exon2:c.G720A:p.T240T,HTR7:NM_019860:exon2:c.G720A:p.T240T",NA,NA,NA,NA,NA,NA
chr11,320649,320649,G,A,P318050_F,IFITM3,Silent,NM_021034,exon1,c.C165T,p.P55P,SNP,SNVindel,exonic,IFITM3,NA,synonymous SNV,IFITM3:NM_021034:exon1:c.C165T:p.P55P,NA,NA,NA,NA,NA,NA
chr11,66002812,66002812,C,T,P318050_F,PACS1,Silent,NM_018026,exon18,c.C2145T,p.N715N,SNP,SNVindel,exonic,PACS1,NA,synonymous SNV,PACS1:NM_018026:exon18:c.C2145T:p.N715N,NA,NA,NA,NA,NA,NA
chr11,118941054,118941054,C,T,P318050_F,VPS11,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,VPS11,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr12,4554609,4554609,C,T,P318050_F,FGF6,Missense_Mutation,NM_020996,exon1,c.G128A,p.R43H,SNP,SNVindel,exonic,FGF6,NA,nonsynonymous SNV,FGF6:NM_020996:exon1:c.G128A:p.R43H,D,N,D,T,N,T
chr13,76335071,76335071,A,G,P318050_F,LMO7,Missense_Mutation,NM_001366633,exon2,c.A88G,p.N30D,SNP,SNVindel,exonic,LMO7,NA,nonsynonymous SNV,"LMO7:NM_001366633:exon2:c.A88G:p.N30D,LMO7:NM_001306080:exon4:c.A214G:p.N72D,LMO7:NM_005358:exon5:c.A370G:p.N124D",D,D,D,T,D,D
chr13,114434229,114434229,C,T,P318050_F,GRK1,Silent,NM_002929,exon5,c.C1107T,p.Y369Y,SNP,SNVindel,exonic,GRK1,NA,synonymous SNV,GRK1:NM_002929:exon5:c.C1107T:p.Y369Y,NA,NA,NA,NA,NA,NA
chr14,20345054,20345054,T,A,P318050_F,OR4K2,Missense_Mutation,NM_001005501,exon1,c.T628A,p.C210S,SNP,SNVindel,exonic,OR4K2,NA,nonsynonymous SNV,OR4K2:NM_001005501:exon1:c.T628A:p.C210S,T,N,N,T,D,T
chr14,70480128,70480128,G,A,P318050_F,SMOC1,Silent,NM_001034852,exon10,c.G966A,p.E322E,SNP,SNVindel,exonic,SMOC1,NA,synonymous SNV,"SMOC1:NM_001034852:exon10:c.G966A:p.E322E,SMOC1:NM_022137:exon10:c.G966A:p.E322E",NA,NA,NA,NA,NA,NA
chr15,28419659,28419659,G,A,P318050_F,HERC2,Silent,NM_004667,exon65,c.C9939T,p.R3313R,SNP,SNVindel,exonic,HERC2,NA,synonymous SNV,HERC2:NM_004667:exon65:c.C9939T:p.R3313R,NA,NA,NA,NA,NA,NA
chr16,18887501,18887501,A,T,P318050_F,SMG1,Missense_Mutation,NM_015092,exon13,c.T1835A,p.I612K,SNP,SNVindel,exonic,SMG1,NA,nonsynonymous SNV,SMG1:NM_015092:exon13:c.T1835A:p.I612K,D,N,D,T,D,T
chr16,20360433,20360433,C,T,P318050_F,UMOD,Missense_Mutation,NM_001008389,exon3,c.G190A,p.V64M,SNP,SNVindel,exonic,UMOD,NA,nonsynonymous SNV,"UMOD:NM_001008389:exon3:c.G190A:p.V64M,UMOD:NM_003361:exon3:c.G190A:p.V64M,UMOD:NM_001278614:exon4:c.G289A:p.V97M",T,N,N,D,N,T
chr17,7576853,7576853,C,T,P318050_F,TP53,Silent,NM_001126115,exon5,c.G597A,p.Q199Q,SNP,SNVindel,exonic,TP53,NA,synonymous SNV,"TP53:NM_001126115:exon5:c.G597A:p.Q199Q,TP53:NM_001126116:exon5:c.G597A:p.Q199Q,TP53:NM_001126117:exon5:c.G597A:p.Q199Q,TP53:NM_001276697:exon5:c.G516A:p.Q172Q,TP53:NM_001276698:exon5:c.G516A:p.Q172Q,TP53:NM_001276699:exon5:c.G516A:p.Q172Q,TP53:NM_001126118:exon8:c.G876A:p.Q292Q,TP53:NM_000546:exon9:c.G993A:p.Q331Q,TP53:NM_001126112:exon9:c.G993A:p.Q331Q,TP53:NM_001126113:exon9:c.G993A:p.Q331Q,TP53:NM_001126114:exon9:c.G993A:p.Q331Q,TP53:NM_001276695:exon9:c.G876A:p.Q292Q,TP53:NM_001276696:exon9:c.G876A:p.Q292Q,TP53:NM_001276760:exon9:c.G876A:p.Q292Q,TP53:NM_001276761:exon9:c.G876A:p.Q292Q",NA,NA,NA,NA,NA,NA
chr17,7578395,7578395,G,A,P318050_F,TP53,Missense_Mutation,NM_001126115,exon1,c.C139T,p.H47Y,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon1:c.C139T:p.H47Y,TP53:NM_001126116:exon1:c.C139T:p.H47Y,TP53:NM_001126117:exon1:c.C139T:p.H47Y,TP53:NM_001276697:exon1:c.C58T:p.H20Y,TP53:NM_001276698:exon1:c.C58T:p.H20Y,TP53:NM_001276699:exon1:c.C58T:p.H20Y,TP53:NM_001126118:exon4:c.C418T:p.H140Y,TP53:NM_000546:exon5:c.C535T:p.H179Y,TP53:NM_001126112:exon5:c.C535T:p.H179Y,TP53:NM_001126113:exon5:c.C535T:p.H179Y,TP53:NM_001126114:exon5:c.C535T:p.H179Y,TP53:NM_001276695:exon5:c.C418T:p.H140Y,TP53:NM_001276696:exon5:c.C418T:p.H140Y,TP53:NM_001276760:exon5:c.C418T:p.H140Y,TP53:NM_001276761:exon5:c.C418T:p.H140Y",D,D,D,D,D,D
chr17,40342708,40342708,G,A,P318050_F,GHDC,Missense_Mutation,NM_001142623,exon8,c.C1222T,p.R408W,SNP,SNVindel,exonic,GHDC,NA,nonsynonymous SNV,"GHDC:NM_001142623:exon8:c.C1222T:p.R408W,GHDC:NM_032484:exon8:c.C1222T:p.R408W",D,N,N,.,D,T
chr17,48269365,48269365,G,A,P318050_F,COL1A1,Silent,NM_000088,exon30,c.C2004T,p.G668G,SNP,SNVindel,exonic,COL1A1,NA,synonymous SNV,COL1A1:NM_000088:exon30:c.C2004T:p.G668G,NA,NA,NA,NA,NA,NA
chr17,56272481,56272481,G,A,P318050_F,EPX,Missense_Mutation,NM_000502,exon6,c.G751A,p.V251I,SNP,SNVindel,exonic,EPX,NA,nonsynonymous SNV,EPX:NM_000502:exon6:c.G751A:p.V251I,T,N,N,T,N,T
chr17,56274474,56274474,C,T,P318050_F,EPX,Missense_Mutation,NM_000502,exon7,c.C976T,p.R326C,SNP,SNVindel,exonic,EPX,NA,nonsynonymous SNV,EPX:NM_000502:exon7:c.C976T:p.R326C,D,N,D,D,D,D
chr19,15918177,15918177,G,T,P318050_F,OR10H1,Missense_Mutation,NM_013940,exon1,c.C671A,p.A224D,SNP,SNVindel,exonic,OR10H1,NA,nonsynonymous SNV,OR10H1:NM_013940:exon1:c.C671A:p.A224D,D,D,N,T,N,T
chr19,18961017,18961017,G,A,P318050_F,UPF1,Missense_Mutation,NM_001297549,exon4,c.G595A,p.A199T,SNP,SNVindel,exonic,UPF1,NA,nonsynonymous SNV,"UPF1:NM_001297549:exon4:c.G595A:p.A199T,UPF1:NM_002911:exon4:c.G595A:p.A199T",D,D,D,D,D,D
chr19,35741334,35741334,G,A,P318050_F,LSR,Missense_Mutation,NM_001260489,exon2,c.G370A,p.V124I,SNP,SNVindel,exonic,LSR,NA,nonsynonymous SNV,"LSR:NM_001260489:exon2:c.G370A:p.V124I,LSR:NM_001260490:exon2:c.G370A:p.V124I,LSR:NM_015925:exon2:c.G370A:p.V124I,LSR:NM_205834:exon2:c.G370A:p.V124I,LSR:NM_205835:exon2:c.G370A:p.V124I",T,D,D,T,N,T
chr21,33694188,33694188,C,T,P318050_F,URB1,Missense_Mutation,NM_014825,exon34,c.G5407A,p.E1803K,SNP,SNVindel,exonic,URB1,NA,nonsynonymous SNV,URB1:NM_014825:exon34:c.G5407A:p.E1803K,D,N,D,T,N,T
chr22,16449539,16449539,A,G,P318050_F,OR11H1,Missense_Mutation,NM_001005239,exon1,c.T266C,p.V89A,SNP,SNVindel,exonic,OR11H1,NA,nonsynonymous SNV,OR11H1:NM_001005239:exon1:c.T266C:p.V89A,NA,NA,NA,NA,NA,NA
chr1,153659558,153659558,G,A,P318050_S,NPR1,Missense_Mutation,NM_000906,exon12,c.G1930A,p.V644I,SNP,SNVindel,exonic,NPR1,NA,nonsynonymous SNV,NPR1:NM_000906:exon12:c.G1930A:p.V644I,T,D,D,D,N,T
chr1,201030461,201030461,G,A,P318050_S,CACNA1S,Silent,NM_000069,exon25,c.C3189T,p.F1063F,SNP,SNVindel,exonic,CACNA1S,NA,synonymous SNV,CACNA1S:NM_000069:exon25:c.C3189T:p.F1063F,NA,NA,NA,NA,NA,NA
chr12,2788861,2788861,C,T,P318050_S,CACNA1C,Silent,NM_001129837,exon41,c.C5367T,p.P1789P,SNP,SNVindel,exonic,CACNA1C,NA,synonymous SNV,"CACNA1C:NM_001129837:exon41:c.C5367T:p.P1789P,CACNA1C:NM_001129838:exon41:c.C5367T:p.P1789P,CACNA1C:NM_001129839:exon41:c.C5361T:p.P1787P,CACNA1C:NM_001129846:exon41:c.C5310T:p.P1770P,CACNA1C:NM_001167625:exon41:c.C5310T:p.P1770P,CACNA1C:NM_000719:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129829:exon42:c.C5466T:p.P1822P,CACNA1C:NM_001129830:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129833:exon42:c.C5400T:p.P1800P,CACNA1C:NM_001129834:exon42:c.C5400T:p.P1800P,CACNA1C:NM_001129835:exon42:c.C5400T:p.P1800P,CACNA1C:NM_001129836:exon42:c.C5394T:p.P1798P,CACNA1C:NM_001129840:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129841:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129842:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129843:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129844:exon42:c.C5334T:p.P1778P,CACNA1C:NM_001167623:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001167624:exon42:c.C5343T:p.P1781P,CACNA1C:NM_001129831:exon43:c.C5427T:p.P1809P,CACNA1C:NM_001129832:exon43:c.C5403T:p.P1801P,CACNA1C:NM_001129827:exon44:c.C5487T:p.P1829P,CACNA1C:NM_199460:exon44:c.C5487T:p.P1829P",NA,NA,NA,NA,NA,NA
chr15,41276477,41276477,G,A,P318050_S,INO80,Missense_Mutation,NM_017553,exon33,c.C3995T,p.S1332L,SNP,SNVindel,exonic,INO80,NA,nonsynonymous SNV,INO80:NM_017553:exon33:c.C3995T:p.S1332L,D,D,D,D,N,D
chr16,31424258,31424258,G,A,P318050_S,ITGAD,Missense_Mutation,NM_001318185,exon15,c.G1810A,p.V604M,SNP,SNVindel,exonic,ITGAD,NA,nonsynonymous SNV,"ITGAD:NM_001318185:exon15:c.G1810A:p.V604M,ITGAD:NM_005353:exon15:c.G1807A:p.V603M",D,.,D,T,D,D
chr18,55359125,55359125,G,A,P318050_S,ATP8B1,Silent,NM_005603,exon12,c.C1134T,p.D378D,SNP,SNVindel,exonic,ATP8B1,NA,synonymous SNV,ATP8B1:NM_005603:exon12:c.C1134T:p.D378D,NA,NA,NA,NA,NA,NA
chr19,40720989,40720989,G,A,P318050_S,MAP3K10,Silent,NM_002446,exon10,c.G2655A,p.P885P,SNP,SNVindel,exonic,MAP3K10,NA,synonymous SNV,MAP3K10:NM_002446:exon10:c.G2655A:p.P885P,NA,NA,NA,NA,NA,NA
chr20,36954723,36954723,G,A,P318050_S,BPI,Silent,NM_001725,exon10,c.G1062A,p.P354P,SNP,SNVindel,exonic,BPI,NA,synonymous SNV,BPI:NM_001725:exon10:c.G1062A:p.P354P,NA,NA,NA,NA,NA,NA
chr22,50685110,50685110,G,A,P318050_S,HDAC10,Silent,NM_001159286,exon15,c.C1509T,p.D503D,SNP,SNVindel,exonic,HDAC10,NA,synonymous SNV,"HDAC10:NM_001159286:exon15:c.C1509T:p.D503D,HDAC10:NM_032019:exon16:c.C1569T:p.D523D",NA,NA,NA,NA,NA,NA
chr3,38153726,38153726,C,T,P318050_S,DLEC1,Silent,NM_001321153,exon25,c.C3549T,p.H1183H,SNP,SNVindel,exonic,DLEC1,NA,synonymous SNV,"DLEC1:NM_001321153:exon25:c.C3549T:p.H1183H,DLEC1:NM_007335:exon25:c.C3540T:p.H1180H,DLEC1:NM_007337:exon25:c.C3540T:p.H1180H",NA,NA,NA,NA,NA,NA
chr3,74350836,74350836,C,T,P318050_S,CNTN3,Missense_Mutation,NM_020872,exon14,c.G1907A,p.R636Q,SNP,SNVindel,exonic,CNTN3,NA,nonsynonymous SNV,CNTN3:NM_020872:exon14:c.G1907A:p.R636Q,D,N,D,T,D,T
chr4,83372300,83372300,G,A,P318050_S,ENOPH1,Silent,NM_001292017,exon3,c.G27A,p.V9V,SNP,SNVindel,exonic,ENOPH1,NA,synonymous SNV,"ENOPH1:NM_001292017:exon3:c.G27A:p.V9V,ENOPH1:NM_021204:exon3:c.G291A:p.V97V",NA,NA,NA,NA,NA,NA
chr6,43184156,43184156,G,A,P318050_S,CUL9,Missense_Mutation,NM_015089,exon31,c.G6197A,p.R2066Q,SNP,SNVindel,exonic,CUL9,NA,nonsynonymous SNV,CUL9:NM_015089:exon31:c.G6197A:p.R2066Q,T,N,N,T,N,T
chr9,115928418,115928418,C,T,P318050_S,FKBP15,Silent,NM_015258,exon28,c.G3600A,p.P1200P,SNP,SNVindel,exonic,FKBP15,NA,synonymous SNV,FKBP15:NM_015258:exon28:c.G3600A:p.P1200P,NA,NA,NA,NA,NA,NA
chr16,48218359,48218359,C,T,P318050_S,ABCC11,Missense_Mutation,NM_033151,exon22,c.G3250A,p.V1084M,SNP,SNVindel,exonic,ABCC11,NA,nonsynonymous SNV,"ABCC11:NM_033151:exon22:c.G3250A:p.V1084M,ABCC11:NM_001370496:exon23:c.G3256A:p.V1086M,ABCC11:NM_001370497:exon23:c.G3250A:p.V1084M,ABCC11:NM_032583:exon24:c.G3250A:p.V1084M,ABCC11:NM_145186:exon24:c.G3250A:p.V1084M",T,N,N,D,N,T
chr16,55905570,55905570,C,T,P318050_S,CES5A,Silent,NM_001143685,exon3,c.G384A,p.A128A,SNP,SNVindel,exonic,CES5A,NA,synonymous SNV,"CES5A:NM_001143685:exon3:c.G384A:p.A128A,CES5A:NM_145024:exon3:c.G384A:p.A128A,CES5A:NM_001190158:exon4:c.G471A:p.A157A",NA,NA,NA,NA,NA,NA
chr19,49309937,49309937,T,C,P318050_S,BCAT2,Missense_Mutation,NM_001190,exon3,c.A137G,p.H46R,SNP,SNVindel,exonic,BCAT2,NA,nonsynonymous SNV,"BCAT2:NM_001190:exon3:c.A137G:p.H46R,BCAT2:NM_001284325:exon4:c.A17G:p.H6R",T,N,N,T,N,T
chr19,56539847,56539847,G,A,P318050_S,NLRP5,Missense_Mutation,NM_153447,exon7,c.G2248A,p.A750T,SNP,SNVindel,exonic,NLRP5,NA,nonsynonymous SNV,NLRP5:NM_153447:exon7:c.G2248A:p.A750T,T,N,N,D,N,T
chr1,228334601,228334601,C,T,P318050_S,GUK1,Silent,NM_001159390,exon4,c.C276T,p.I92I,SNP,SNVindel,exonic,GUK1,NA,synonymous SNV,"GUK1:NM_001159390:exon4:c.C276T:p.I92I,GUK1:NM_001159391:exon4:c.C213T:p.I71I,GUK1:NM_001242839:exon4:c.C213T:p.I71I,GUK1:NM_001242840:exon4:c.C276T:p.I92I,GUK1:NM_000858:exon5:c.C213T:p.I71I",NA,NA,NA,NA,NA,NA
chr5,132209691,132209691,G,A,P318050_S,LEAP2,Missense_Mutation,NM_052971,exon2,c.G107A,p.R36Q,SNP,SNVindel,exonic,LEAP2,NA,nonsynonymous SNV,LEAP2:NM_052971:exon2:c.G107A:p.R36Q,T,N,N,.,N,T
chr17,9808215,9808215,C,T,P318050_S,RCVRN,Missense_Mutation,NM_002903,exon1,c.G283A,p.A95T,SNP,SNVindel,exonic,RCVRN,NA,nonsynonymous SNV,RCVRN:NM_002903:exon1:c.G283A:p.A95T,T,N,N,T,N,T
chr8,21965325,21965325,G,A,P318050_S,NUDT18,Missense_Mutation,NM_024815,exon5,c.C458T,p.P153L,SNP,SNVindel,exonic,NUDT18,NA,nonsynonymous SNV,NUDT18:NM_024815:exon5:c.C458T:p.P153L,.,D,D,.,.,T
chr19,52249880,52249880,C,T,P318050_S,FPR1,Missense_Mutation,NM_002029,exon2,c.G368A,p.R123H,SNP,SNVindel,exonic,FPR1,NA,nonsynonymous SNV,"FPR1:NM_002029:exon2:c.G368A:p.R123H,FPR1:NM_001193306:exon3:c.G368A:p.R123H",D,D,D,D,D,D
chr16,2051656,2051656,C,T,P318050_S,ZNF598,Missense_Mutation,NM_178167,exon8,c.G941A,p.R314H,SNP,SNVindel,exonic,ZNF598,NA,nonsynonymous SNV,ZNF598:NM_178167:exon8:c.G941A:p.R314H,D,D,D,T,N,T
chr16,20793084,20793084,A,G,P318050_S,ACSM3,Missense_Mutation,NM_005622,exon7,c.A994G,p.M332V,SNP,SNVindel,exonic,ACSM3,NA,nonsynonymous SNV,"ACSM3:NM_005622:exon7:c.A994G:p.M332V,ACSM3:NM_202000:exon7:c.A994G:p.M332V",D,D,D,T,D,T
chr11,62910885,62910885,C,T,P318050_S,SLC22A24,Missense_Mutation,NM_001136506,exon1,c.G367A,p.D123N,SNP,SNVindel,exonic,SLC22A24,NA,nonsynonymous SNV,"SLC22A24:NM_001136506:exon1:c.G367A:p.D123N,SLC22A24:NM_173586:exon1:c.G367A:p.D123N",D,U,N,T,D,T
chr12,114395768,114395768,G,A,P318050_S,RBM19,Missense_Mutation,NM_001146698,exon6,c.C659T,p.S220L,SNP,SNVindel,exonic,RBM19,NA,nonsynonymous SNV,"RBM19:NM_001146698:exon6:c.C659T:p.S220L,RBM19:NM_001146699:exon6:c.C659T:p.S220L,RBM19:NM_016196:exon6:c.C659T:p.S220L",T,N,N,T,N,T
chr1,182772897,182772897,A,G,P318050_S,NPL,Missense_Mutation,NM_001200051,exon4,c.A133G,p.N45D,SNP,SNVindel,exonic,NPL,NA,nonsynonymous SNV,"NPL:NM_001200051:exon4:c.A133G:p.N45D,NPL:NM_001200052:exon4:c.A133G:p.N45D,NPL:NM_001200056:exon4:c.A133G:p.N45D,NPL:NM_030769:exon4:c.A133G:p.N45D",D,N,D,D,N,D
chr5,140531761,140531761,T,G,P318050_S,PCDHB6,Silent,NM_018939,exon1,c.T1923G,p.L641L,SNP,SNVindel,exonic,PCDHB6,NA,synonymous SNV,"PCDHB6:NM_018939:exon1:c.T1923G:p.L641L,PCDHB6:NM_001303145:exon2:c.T1515G:p.L505L",NA,NA,NA,NA,NA,NA
chr18,29178611,29178611,G,A,P318050_S,TTR,Silent,NM_000371,exon4,c.G417A,p.T139T,SNP,SNVindel,exonic,TTR,NA,synonymous SNV,TTR:NM_000371:exon4:c.G417A:p.T139T,NA,NA,NA,NA,NA,NA
chr4,72316967,72316967,G,A,P318050_S,SLC4A4,Missense_Mutation,NM_003759,exon8,c.G1139A,p.G380D,SNP,SNVindel,exonic,SLC4A4,NA,nonsynonymous SNV,"SLC4A4:NM_003759:exon8:c.G1139A:p.G380D,SLC4A4:NM_001098484:exon11:c.G1271A:p.G424D,SLC4A4:NM_001134742:exon11:c.G1271A:p.G424D",T,D,D,T,D,T
chr7,132169649,132169649,G,T,P318050_S,PLXNA4,Missense_Mutation,NM_181775,exon5,c.C1495A,p.H499N,SNP,SNVindel,exonic,PLXNA4,NA,nonsynonymous SNV,PLXNA4:NM_181775:exon5:c.C1495A:p.H499N,T,.,N,T,N,T
chr9,101984010,101984010,G,A,P318050_S,ALG2,Missense_Mutation,NM_033087,exon1,c.C167T,p.P56L,SNP,SNVindel,exonic,ALG2,NA,nonsynonymous SNV,ALG2:NM_033087:exon1:c.C167T:p.P56L,D,D,D,T,D,D
chr18,22048821,22048821,T,G,P318050_S,HRH4,Missense_Mutation,NM_021624,exon2,c.T263G,p.V88G,SNP,SNVindel,exonic,HRH4,NA,nonsynonymous SNV,HRH4:NM_021624:exon2:c.T263G:p.V88G,D,N,N,T,N,T
chr1,183086559,183086559,C,T,P318050_S,LAMC1,Missense_Mutation,NM_002293,exon9,c.C1669T,p.R557W,SNP,SNVindel,exonic,LAMC1,NA,nonsynonymous SNV,LAMC1:NM_002293:exon9:c.C1669T:p.R557W,D,D,D,T,N,T
chr2,113764287,113764287,C,T,P318050_S,IL36A,Silent,NM_014440,exon3,c.C237T,p.V79V,SNP,SNVindel,exonic,IL36A,NA,synonymous SNV,IL36A:NM_014440:exon3:c.C237T:p.V79V,NA,NA,NA,NA,NA,NA
chr10,101591418,101591418,G,A,P318050_S,ABCC2,Silent,NM_000392,exon22,c.G2934A,p.S978S,SNP,SNVindel,exonic,ABCC2,NA,synonymous SNV,ABCC2:NM_000392:exon22:c.G2934A:p.S978S,NA,NA,NA,NA,NA,NA
chr4,5755529,5755529,A,C,P318050_S,EVC,Missense_Mutation,NM_001306090,exon10,c.A1333C,p.K445Q,SNP,SNVindel,exonic,EVC,NA,nonsynonymous SNV,"EVC:NM_001306090:exon10:c.A1333C:p.K445Q,EVC:NM_001306092:exon10:c.A1333C:p.K445Q,EVC:NM_153717:exon10:c.A1333C:p.K445Q",T,N,D,T,N,T
chr1,43806166,43806166,G,A,P318050_S,MPL,Missense_Mutation,NM_005373,exon6,c.G962A,p.R321Q,SNP,SNVindel,exonic,MPL,NA,nonsynonymous SNV,MPL:NM_005373:exon6:c.G962A:p.R321Q,T,N,N,T,N,T
chr6,123101544,123101544,C,T,P318050_S,FABP7,Missense_Mutation,NM_001319039,exon2,c.C182T,p.T61M,SNP,SNVindel,exonic,FABP7,NA,nonsynonymous SNV,"FABP7:NM_001319039:exon2:c.C182T:p.T61M,FABP7:NM_001319041:exon2:c.C182T:p.T61M,FABP7:NM_001319042:exon2:c.C170T:p.T57M,FABP7:NM_001446:exon2:c.C182T:p.T61M",D,D,D,T,D,T
chr19,55494204,55494204,C,T,P318050_S,NLRP2,Missense_Mutation,NM_001174082,exon5,c.C1072T,p.R358C,SNP,SNVindel,exonic,NLRP2,NA,nonsynonymous SNV,"NLRP2:NM_001174082:exon5:c.C1072T:p.R358C,NLRP2:NM_001174081:exon6:c.C1138T:p.R380C,NLRP2:NM_001348003:exon6:c.C1129T:p.R377C,NLRP2:NM_017852:exon6:c.C1138T:p.R380C,NLRP2:NM_001174083:exon7:c.C1069T:p.R357C",D,N,N,T,D,T
chr10,5978442,5978442,G,A,P318050_S,FBH1,Silent,NM_178150,exon20,c.G2853A,p.L951L,SNP,SNVindel,exonic,FBH1,NA,synonymous SNV,"FBH1:NM_178150:exon20:c.G2853A:p.L951L,FBH1:NM_001258452:exon21:c.G2682A:p.L894L,FBH1:NM_001258453:exon21:c.G2631A:p.L877L,FBH1:NM_032807:exon21:c.G3006A:p.L1002L",NA,NA,NA,NA,NA,NA
chr5,75581653,75581653,C,T,P318050_S,SV2C,Silent,NM_001297716,exon6,c.C1095T,p.D365D,SNP,SNVindel,exonic,SV2C,NA,synonymous SNV,"SV2C:NM_001297716:exon6:c.C1095T:p.D365D,SV2C:NM_014979:exon6:c.C1095T:p.D365D",NA,NA,NA,NA,NA,NA
chr12,95604074,95604074,T,C,P318050_S,FGD6,Missense_Mutation,NM_018351,exon2,c.A986G,p.K329R,SNP,SNVindel,exonic,FGD6,NA,nonsynonymous SNV,FGD6:NM_018351:exon2:c.A986G:p.K329R,T,N,N,T,N,T
chr2,219694812,219694812,G,A,P318050_S,PRKAG3,Silent,NM_017431,exon4,c.C522T,p.D174D,SNP,SNVindel,exonic,PRKAG3,NA,synonymous SNV,PRKAG3:NM_017431:exon4:c.C522T:p.D174D,NA,NA,NA,NA,NA,NA
chr1,5935110,5935110,G,A,P318050_S,NPHP4,Silent,NM_001291594,exon17,c.C1332T,p.A444A,SNP,SNVindel,exonic,NPHP4,NA,synonymous SNV,"NPHP4:NM_001291594:exon17:c.C1332T:p.A444A,NPHP4:NM_001291593:exon18:c.C1329T:p.A443A,NPHP4:NM_015102:exon21:c.C2868T:p.A956A",NA,NA,NA,NA,NA,NA
chr1,198201732,198201732,A,C,P318050_S,NEK7,Missense_Mutation,NM_133494,exon2,c.A22C,p.M8L,SNP,SNVindel,exonic,NEK7,NA,nonsynonymous SNV,NEK7:NM_133494:exon2:c.A22C:p.M8L,T,N,N,T,N,T
chr1,47399670,47399670,G,T,P318050_S,CYP4A11,Silent,NM_001363587,exon7,c.C876A,p.G292G,SNP,SNVindel,exonic,CYP4A11,NA,synonymous SNV,"CYP4A11:NM_001363587:exon7:c.C876A:p.G292G,CYP4A11:NM_000778:exon9:c.C1170A:p.G390G,CYP4A11:NM_001319155:exon9:c.C1074A:p.G358G",NA,NA,NA,NA,NA,NA
chr1,79470895,79470895,G,A,P318050_S,ADGRL4,Missense_Mutation,NM_022159,exon2,c.C32T,p.S11F,SNP,SNVindel,exonic,ADGRL4,NA,nonsynonymous SNV,ADGRL4:NM_022159:exon2:c.C32T:p.S11F,D,N,D,T,N,T
chr1,197887043,197887043,C,T,P318050_S,LHX9,Silent,NM_001370213,exon1,c.C90T,p.I30I,SNP,SNVindel,exonic,LHX9,NA,synonymous SNV,"LHX9:NM_001370213:exon1:c.C90T:p.I30I,LHX9:NM_020204:exon1:c.C90T:p.I30I,LHX9:NM_001014434:exon2:c.C63T:p.I21I",NA,NA,NA,NA,NA,NA
chr1,248112554,248112554,T,C,P318050_S,OR2L8,Missense_Mutation,NM_001001963,exon1,c.T395C,p.L132P,SNP,SNVindel,exonic,OR2L8,NA,nonsynonymous SNV,OR2L8:NM_001001963:exon1:c.T395C:p.L132P,T,N,N,T,N,T
chr2,20402923,20402923,G,A,P318050_S,SDC1,Missense_Mutation,NM_002997,exon4,c.C688T,p.R230W,SNP,SNVindel,exonic,SDC1,NA,nonsynonymous SNV,"SDC1:NM_002997:exon4:c.C688T:p.R230W,SDC1:NM_001006946:exon5:c.C688T:p.R230W",D,N,D,T,D,T
chr3,185229345,185229345,C,T,P318050_S,LIPH,Missense_Mutation,NM_139248,exon9,c.G1235A,p.R412Q,SNP,SNVindel,exonic,LIPH,NA,nonsynonymous SNV,LIPH:NM_139248:exon9:c.G1235A:p.R412Q,T,N,D,D,N,T
chr4,10445956,10445956,C,T,P318050_S,ZNF518B,Missense_Mutation,NM_053042,exon3,c.G1997A,p.R666H,SNP,SNVindel,exonic,ZNF518B,NA,nonsynonymous SNV,ZNF518B:NM_053042:exon3:c.G1997A:p.R666H,D,N,N,T,N,T
chr4,71201633,71201633,G,A,P318050_S,CABS1,Missense_Mutation,NM_033122,exon1,c.G877A,p.E293K,SNP,SNVindel,exonic,CABS1,NA,nonsynonymous SNV,CABS1:NM_033122:exon1:c.G877A:p.E293K,T,N,N,T,D,T
chr4,90170438,90170438,G,A,P318050_S,GPRIN3,Missense_Mutation,NM_198281,exon2,c.C824T,p.S275L,SNP,SNVindel,exonic,GPRIN3,NA,nonsynonymous SNV,GPRIN3:NM_198281:exon2:c.C824T:p.S275L,T,N,N,T,N,T
chr4,147561601,147561601,G,A,P318050_S,POU4F2,Missense_Mutation,NM_004575,exon2,c.G871A,p.V291M,SNP,SNVindel,exonic,POU4F2,NA,nonsynonymous SNV,POU4F2:NM_004575:exon2:c.G871A:p.V291M,D,D,D,T,D,D
chr5,75427791,75427791,C,T,P318050_S,SV2C,Silent,NM_001297716,exon2,c.C216T,p.D72D,SNP,SNVindel,exonic,SV2C,NA,synonymous SNV,"SV2C:NM_001297716:exon2:c.C216T:p.D72D,SV2C:NM_014979:exon2:c.C216T:p.D72D",NA,NA,NA,NA,NA,NA
chr5,83402534,83402534,C,T,P318050_S,EDIL3,Missense_Mutation,NM_001278642,exon5,c.G554A,p.R185H,SNP,SNVindel,exonic,EDIL3,NA,nonsynonymous SNV,"EDIL3:NM_001278642:exon5:c.G554A:p.R185H,EDIL3:NM_005711:exon6:c.G584A:p.R195H",D,D,D,D,D,D
chr5,140209679,140209679,C,T,P318050_S,PCDHA6,Missense_Mutation,NM_018909,exon1,c.C2003T,p.S668L,SNP,SNVindel,exonic,PCDHA6,NA,nonsynonymous SNV,"PCDHA6:NM_018909:exon1:c.C2003T:p.S668L,PCDHA6:NM_031848:exon1:c.C2003T:p.S668L",T,U,N,T,D,T
chr7,56142415,56142415,G,A,P318050_S,SUMF2,Missense_Mutation,NM_001042469,exon4,c.G476A,p.R159Q,SNP,SNVindel,exonic,SUMF2,NA,nonsynonymous SNV,"SUMF2:NM_001042469:exon4:c.G476A:p.R159Q,SUMF2:NM_001146333:exon4:c.G257A:p.R86Q,SUMF2:NM_001366647:exon4:c.G476A:p.R159Q,SUMF2:NM_001042468:exon5:c.G530A:p.R177Q,SUMF2:NM_001130069:exon5:c.G521A:p.R174Q,SUMF2:NM_001366648:exon5:c.G521A:p.R174Q,SUMF2:NM_015411:exon5:c.G521A:p.R174Q",D,D,D,D,D,D
chr8,126067855,126067855,G,A,P318050_S,WASHC5,Missense_Mutation,NM_001330609,exon16,c.C1631T,p.T544M,SNP,SNVindel,exonic,WASHC5,NA,nonsynonymous SNV,"WASHC5:NM_001330609:exon16:c.C1631T:p.T544M,WASHC5:NM_014846:exon17:c.C2075T:p.T692M",D,D,D,D,D,D
chr9,27455464,27455464,C,G,P318050_S,MOB3B,Missense_Mutation,NM_024761,exon2,c.G85C,p.E29Q,SNP,SNVindel,exonic,MOB3B,NA,nonsynonymous SNV,MOB3B:NM_024761:exon2:c.G85C:p.E29Q,T,D,D,.,N,T
chr9,43822668,43822668,C,T,P318050_S,CNTNAP3B,Missense_Mutation,NM_001201380,exon8,c.C1222T,p.L408F,SNP,SNVindel,exonic,CNTNAP3B,NA,nonsynonymous SNV,CNTNAP3B:NM_001201380:exon8:c.C1222T:p.L408F,NA,NA,NA,NA,NA,NA
chr9,96439007,96439007,G,T,P318050_S,PHF2,Silent,NM_005392,exon21,c.G2964T,p.P988P,SNP,SNVindel,exonic,PHF2,NA,synonymous SNV,PHF2:NM_005392:exon21:c.G2964T:p.P988P,NA,NA,NA,NA,NA,NA
chr9,139944736,139944736,C,G,P318050_S,ENTPD2,Silent,NM_001246,exon6,c.G1029C,p.V343V,SNP,SNVindel,exonic,ENTPD2,NA,synonymous SNV,"ENTPD2:NM_001246:exon6:c.G1029C:p.V343V,ENTPD2:NM_203468:exon6:c.G1029C:p.V343V",NA,NA,NA,NA,NA,NA
chr10,24832140,24832140,C,T,P318050_S,KIAA1217,Missense_Mutation,NM_019590,exon19,c.C3941T,p.T1314M,SNP,SNVindel,exonic,KIAA1217,NA,nonsynonymous SNV,KIAA1217:NM_019590:exon19:c.C3941T:p.T1314M,D,N,N,T,N,T
chr10,89692961,89692961,C,T,P318050_S,PTEN,Nonsense_Mutation,NM_000314,exon5,c.C445T,p.Q149X,SNP,SNVindel,exonic,PTEN,NA,stopgain,"PTEN:NM_000314:exon5:c.C445T:p.Q149X,PTEN:NM_001304717:exon6:c.C964T:p.Q322X",.,D,A,.,.,.
chr10,92509171,92509171,C,T,P318050_S,HTR7,Silent,NM_000872,exon2,c.G720A,p.T240T,SNP,SNVindel,exonic,HTR7,NA,synonymous SNV,"HTR7:NM_000872:exon2:c.G720A:p.T240T,HTR7:NM_019859:exon2:c.G720A:p.T240T,HTR7:NM_019860:exon2:c.G720A:p.T240T",NA,NA,NA,NA,NA,NA
chr10,106737111,106737111,C,T,P318050_S,SORCS3,Missense_Mutation,NM_014978,exon4,c.C814T,p.P272S,SNP,SNVindel,exonic,SORCS3,NA,nonsynonymous SNV,SORCS3:NM_014978:exon4:c.C814T:p.P272S,T,D,D,T,N,T
chr11,66002812,66002812,C,T,P318050_S,PACS1,Silent,NM_018026,exon18,c.C2145T,p.N715N,SNP,SNVindel,exonic,PACS1,NA,synonymous SNV,PACS1:NM_018026:exon18:c.C2145T:p.N715N,NA,NA,NA,NA,NA,NA
chr11,118941054,118941054,C,T,P318050_S,VPS11,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,VPS11,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr12,4554609,4554609,C,T,P318050_S,FGF6,Missense_Mutation,NM_020996,exon1,c.G128A,p.R43H,SNP,SNVindel,exonic,FGF6,NA,nonsynonymous SNV,FGF6:NM_020996:exon1:c.G128A:p.R43H,D,N,D,T,N,T
chr13,76335071,76335071,A,G,P318050_S,LMO7,Missense_Mutation,NM_001366633,exon2,c.A88G,p.N30D,SNP,SNVindel,exonic,LMO7,NA,nonsynonymous SNV,"LMO7:NM_001366633:exon2:c.A88G:p.N30D,LMO7:NM_001306080:exon4:c.A214G:p.N72D,LMO7:NM_005358:exon5:c.A370G:p.N124D",D,D,D,T,D,D
chr13,114434229,114434229,C,T,P318050_S,GRK1,Silent,NM_002929,exon5,c.C1107T,p.Y369Y,SNP,SNVindel,exonic,GRK1,NA,synonymous SNV,GRK1:NM_002929:exon5:c.C1107T:p.Y369Y,NA,NA,NA,NA,NA,NA
chr14,20345054,20345054,T,A,P318050_S,OR4K2,Missense_Mutation,NM_001005501,exon1,c.T628A,p.C210S,SNP,SNVindel,exonic,OR4K2,NA,nonsynonymous SNV,OR4K2:NM_001005501:exon1:c.T628A:p.C210S,T,N,N,T,D,T
chr14,70480128,70480128,G,A,P318050_S,SMOC1,Silent,NM_001034852,exon10,c.G966A,p.E322E,SNP,SNVindel,exonic,SMOC1,NA,synonymous SNV,"SMOC1:NM_001034852:exon10:c.G966A:p.E322E,SMOC1:NM_022137:exon10:c.G966A:p.E322E",NA,NA,NA,NA,NA,NA
chr15,28419659,28419659,G,A,P318050_S,HERC2,Silent,NM_004667,exon65,c.C9939T,p.R3313R,SNP,SNVindel,exonic,HERC2,NA,synonymous SNV,HERC2:NM_004667:exon65:c.C9939T:p.R3313R,NA,NA,NA,NA,NA,NA
chr16,18887501,18887501,A,T,P318050_S,SMG1,Missense_Mutation,NM_015092,exon13,c.T1835A,p.I612K,SNP,SNVindel,exonic,SMG1,NA,nonsynonymous SNV,SMG1:NM_015092:exon13:c.T1835A:p.I612K,D,N,D,T,D,T
chr16,20360433,20360433,C,T,P318050_S,UMOD,Missense_Mutation,NM_001008389,exon3,c.G190A,p.V64M,SNP,SNVindel,exonic,UMOD,NA,nonsynonymous SNV,"UMOD:NM_001008389:exon3:c.G190A:p.V64M,UMOD:NM_003361:exon3:c.G190A:p.V64M,UMOD:NM_001278614:exon4:c.G289A:p.V97M",T,N,N,D,N,T
chr16,71318929,71318929,G,A,P318050_S,CMTR2,Missense_Mutation,NM_001324378,exon2,c.C895T,p.H299Y,SNP,SNVindel,exonic,CMTR2,NA,nonsynonymous SNV,"CMTR2:NM_001324378:exon2:c.C895T:p.H299Y,CMTR2:NM_001324379:exon2:c.C895T:p.H299Y,CMTR2:NM_001099642:exon3:c.C895T:p.H299Y,CMTR2:NM_001324374:exon3:c.C895T:p.H299Y,CMTR2:NM_001324377:exon3:c.C895T:p.H299Y,CMTR2:NM_018348:exon3:c.C895T:p.H299Y",D,D,D,T,D,T
chr17,7576853,7576853,C,T,P318050_S,TP53,Silent,NM_001126115,exon5,c.G597A,p.Q199Q,SNP,SNVindel,exonic,TP53,NA,synonymous SNV,"TP53:NM_001126115:exon5:c.G597A:p.Q199Q,TP53:NM_001126116:exon5:c.G597A:p.Q199Q,TP53:NM_001126117:exon5:c.G597A:p.Q199Q,TP53:NM_001276697:exon5:c.G516A:p.Q172Q,TP53:NM_001276698:exon5:c.G516A:p.Q172Q,TP53:NM_001276699:exon5:c.G516A:p.Q172Q,TP53:NM_001126118:exon8:c.G876A:p.Q292Q,TP53:NM_000546:exon9:c.G993A:p.Q331Q,TP53:NM_001126112:exon9:c.G993A:p.Q331Q,TP53:NM_001126113:exon9:c.G993A:p.Q331Q,TP53:NM_001126114:exon9:c.G993A:p.Q331Q,TP53:NM_001276695:exon9:c.G876A:p.Q292Q,TP53:NM_001276696:exon9:c.G876A:p.Q292Q,TP53:NM_001276760:exon9:c.G876A:p.Q292Q,TP53:NM_001276761:exon9:c.G876A:p.Q292Q",NA,NA,NA,NA,NA,NA
chr17,7578395,7578395,G,A,P318050_S,TP53,Missense_Mutation,NM_001126115,exon1,c.C139T,p.H47Y,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon1:c.C139T:p.H47Y,TP53:NM_001126116:exon1:c.C139T:p.H47Y,TP53:NM_001126117:exon1:c.C139T:p.H47Y,TP53:NM_001276697:exon1:c.C58T:p.H20Y,TP53:NM_001276698:exon1:c.C58T:p.H20Y,TP53:NM_001276699:exon1:c.C58T:p.H20Y,TP53:NM_001126118:exon4:c.C418T:p.H140Y,TP53:NM_000546:exon5:c.C535T:p.H179Y,TP53:NM_001126112:exon5:c.C535T:p.H179Y,TP53:NM_001126113:exon5:c.C535T:p.H179Y,TP53:NM_001126114:exon5:c.C535T:p.H179Y,TP53:NM_001276695:exon5:c.C418T:p.H140Y,TP53:NM_001276696:exon5:c.C418T:p.H140Y,TP53:NM_001276760:exon5:c.C418T:p.H140Y,TP53:NM_001276761:exon5:c.C418T:p.H140Y",D,D,D,D,D,D
chr17,40342708,40342708,G,A,P318050_S,GHDC,Missense_Mutation,NM_001142623,exon8,c.C1222T,p.R408W,SNP,SNVindel,exonic,GHDC,NA,nonsynonymous SNV,"GHDC:NM_001142623:exon8:c.C1222T:p.R408W,GHDC:NM_032484:exon8:c.C1222T:p.R408W",D,N,N,.,D,T
chr17,48269365,48269365,G,A,P318050_S,COL1A1,Silent,NM_000088,exon30,c.C2004T,p.G668G,SNP,SNVindel,exonic,COL1A1,NA,synonymous SNV,COL1A1:NM_000088:exon30:c.C2004T:p.G668G,NA,NA,NA,NA,NA,NA
chr17,56272481,56272481,G,A,P318050_S,EPX,Missense_Mutation,NM_000502,exon6,c.G751A,p.V251I,SNP,SNVindel,exonic,EPX,NA,nonsynonymous SNV,EPX:NM_000502:exon6:c.G751A:p.V251I,T,N,N,T,N,T
chr19,15918177,15918177,G,T,P318050_S,OR10H1,Missense_Mutation,NM_013940,exon1,c.C671A,p.A224D,SNP,SNVindel,exonic,OR10H1,NA,nonsynonymous SNV,OR10H1:NM_013940:exon1:c.C671A:p.A224D,D,D,N,T,N,T
chr19,35741334,35741334,G,A,P318050_S,LSR,Missense_Mutation,NM_001260489,exon2,c.G370A,p.V124I,SNP,SNVindel,exonic,LSR,NA,nonsynonymous SNV,"LSR:NM_001260489:exon2:c.G370A:p.V124I,LSR:NM_001260490:exon2:c.G370A:p.V124I,LSR:NM_015925:exon2:c.G370A:p.V124I,LSR:NM_205834:exon2:c.G370A:p.V124I,LSR:NM_205835:exon2:c.G370A:p.V124I",T,D,D,T,N,T
chr20,39801087,39801087,C,T,P318050_S,PLCG1,Missense_Mutation,NM_002660,exon26,c.C2932T,p.R978W,SNP,SNVindel,exonic,PLCG1,NA,nonsynonymous SNV,"PLCG1:NM_002660:exon26:c.C2932T:p.R978W,PLCG1:NM_182811:exon26:c.C2932T:p.R978W",D,D,D,T,N,T
chr21,33694188,33694188,C,T,P318050_S,URB1,Missense_Mutation,NM_014825,exon34,c.G5407A,p.E1803K,SNP,SNVindel,exonic,URB1,NA,nonsynonymous SNV,URB1:NM_014825:exon34:c.G5407A:p.E1803K,D,N,D,T,N,T
chrX,133119399,133119399,G,A,P318050_S,GPC3,Silent,NM_001164617,exon1,c.C78T,p.P26P,SNP,SNVindel,exonic,GPC3,NA,synonymous SNV,"GPC3:NM_001164617:exon1:c.C78T:p.P26P,GPC3:NM_001164618:exon1:c.C78T:p.P26P,GPC3:NM_001164619:exon1:c.C78T:p.P26P,GPC3:NM_004484:exon1:c.C78T:p.P26P",NA,NA,NA,NA,NA,NA
chr1,6698375,6698375,T,G,P342989_F,DNAJC11,Missense_Mutation,NM_018198,exon12,c.A1303C,p.K435Q,SNP,SNVindel,exonic,DNAJC11,NA,nonsynonymous SNV,DNAJC11:NM_018198:exon12:c.A1303C:p.K435Q,T,D,D,T,N,T
chr1,54474728,54474728,G,A,P342989_F,LDLRAD1,Missense_Mutation,NM_001276392,exon4,c.C428T,p.P143L,SNP,SNVindel,exonic,LDLRAD1,NA,nonsynonymous SNV,"LDLRAD1:NM_001276392:exon4:c.C428T:p.P143L,LDLRAD1:NM_001276394:exon4:c.C278T:p.P93L,LDLRAD1:NM_001276393:exon5:c.C416T:p.P139L,LDLRAD1:NM_001010978:exon6:c.C545T:p.P182L",D,D,D,D,D,D
chr1,158532786,158532786,G,T,P342989_F,OR6P1,Silent,NM_001160325,exon1,c.C609A,p.A203A,SNP,SNVindel,exonic,OR6P1,NA,synonymous SNV,OR6P1:NM_001160325:exon1:c.C609A:p.A203A,NA,NA,NA,NA,NA,NA
chr1,226252156,226252156,G,T,P342989_F,H3F3A,Missense_Mutation,NM_002107,exon2,c.G104T,p.G35V,SNP,SNVindel,exonic,H3F3A,NA,nonsynonymous SNV,H3F3A:NM_002107:exon2:c.G104T:p.G35V,D,D,D,T,D,T
chr1,236721781,236721781,G,A,P342989_F,HEATR1,Missense_Mutation,NM_018072,exon36,c.C4960T,p.R1654C,SNP,SNVindel,exonic,HEATR1,NA,nonsynonymous SNV,HEATR1:NM_018072:exon36:c.C4960T:p.R1654C,T,N,D,T,N,T
chr1,248551711,248551711,C,T,P342989_F,OR2T6,Missense_Mutation,NM_001005471,exon1,c.C802T,p.P268S,SNP,SNVindel,exonic,OR2T6,NA,nonsynonymous SNV,OR2T6:NM_001005471:exon1:c.C802T:p.P268S,T,D,N,T,D,T
chr2,46603834,46603834,C,T,P342989_F,EPAS1,Silent,NM_001430,exon9,c.C1191T,p.P397P,SNP,SNVindel,exonic,EPAS1,NA,synonymous SNV,EPAS1:NM_001430:exon9:c.C1191T:p.P397P,NA,NA,NA,NA,NA,NA
chr2,119604280,119604280,G,A,P342989_F,EN1,Missense_Mutation,NM_001426,exon1,c.C464T,p.P155L,SNP,SNVindel,exonic,EN1,NA,nonsynonymous SNV,EN1:NM_001426:exon1:c.C464T:p.P155L,D,N,D,D,N,T
chr2,167099085,167099085,C,A,P342989_F,SCN9A,Missense_Mutation,NM_001365536,exon19,c.G3554T,p.C1185F,SNP,SNVindel,exonic,SCN9A,NA,nonsynonymous SNV,"SCN9A:NM_001365536:exon19:c.G3554T:p.C1185F,SCN9A:NM_002977:exon19:c.G3521T:p.C1174F",D,D,D,D,D,D
chr2,176964810,176964810,C,G,P342989_F,HOXD12,Missense_Mutation,NM_021193,exon1,c.C281G,p.P94R,SNP,SNVindel,exonic,HOXD12,NA,nonsynonymous SNV,HOXD12:NM_021193:exon1:c.C281G:p.P94R,T,N,N,T,N,T
chr2,219294611,219294611,G,A,P342989_F,VIL1,Missense_Mutation,NM_007127,exon9,c.G889A,p.V297M,SNP,SNVindel,exonic,VIL1,NA,nonsynonymous SNV,VIL1:NM_007127:exon9:c.G889A:p.V297M,T,D,D,T,D,D
chr3,119334879,119334879,G,A,P342989_F,PLA1A,Missense_Mutation,NM_001206961,exon5,c.G166A,p.V56I,SNP,SNVindel,exonic,PLA1A,NA,nonsynonymous SNV,"PLA1A:NM_001206961:exon5:c.G166A:p.V56I,PLA1A:NM_001206960:exon6:c.G637A:p.V213I,PLA1A:NM_001293225:exon6:c.G637A:p.V213I,PLA1A:NM_015900:exon6:c.G685A:p.V229I",D,D,D,D,N,D
chr3,155203383,155203383,G,A,P342989_F,PLCH1,Silent,NM_014996,exon21,c.C2736T,p.R912R,SNP,SNVindel,exonic,PLCH1,NA,synonymous SNV,"PLCH1:NM_014996:exon21:c.C2736T:p.R912R,PLCH1:NM_001130960:exon22:c.C2760T:p.R920R,PLCH1:NM_001130961:exon22:c.C2760T:p.R920R,PLCH1:NM_001349250:exon22:c.C2760T:p.R920R,PLCH1:NM_001349251:exon22:c.C2736T:p.R912R,PLCH1:NM_001349252:exon23:c.C2796T:p.R932R",NA,NA,NA,NA,NA,NA
chr3,178936091,178936091,G,A,P342989_F,PIK3CA,Missense_Mutation,NM_006218,exon10,c.G1633A,p.E545K,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon10:c.G1633A:p.E545K,D,D,D,T,D,T
chr5,41159281,41159281,G,A,P342989_F,C6,Nonsense_Mutation,NM_000065,exon12,c.C1759T,p.R587X,SNP,SNVindel,exonic,C6,NA,stopgain,"C6:NM_000065:exon12:c.C1759T:p.R587X,C6:NM_001115131:exon12:c.C1759T:p.R587X",.,D,A,.,.,.
chr5,89968462,89968462,G,T,P342989_F,ADGRV1,Missense_Mutation,NM_032119,exon22,c.G4852T,p.D1618Y,SNP,SNVindel,exonic,ADGRV1,NA,nonsynonymous SNV,ADGRV1:NM_032119:exon22:c.G4852T:p.D1618Y,D,N,N,T,D,T
chr5,129520761,129520761,A,T,P342989_F,CHSY3,Missense_Mutation,NM_175856,exon3,c.A1926T,p.E642D,SNP,SNVindel,exonic,CHSY3,NA,nonsynonymous SNV,CHSY3:NM_175856:exon3:c.A1926T:p.E642D,D,D,D,T,D,T
chr5,140573991,140573991,G,C,P342989_F,PCDHB10,Silent,NM_018930,exon1,c.G1866C,p.G622G,SNP,SNVindel,exonic,PCDHB10,NA,synonymous SNV,PCDHB10:NM_018930:exon1:c.G1866C:p.G622G,NA,NA,NA,NA,NA,NA
chr5,156381443,156381443,C,T,P342989_F,TIMD4,Missense_Mutation,NM_001146726,exon2,c.G383A,p.R128H,SNP,SNVindel,exonic,TIMD4,NA,nonsynonymous SNV,"TIMD4:NM_001146726:exon2:c.G383A:p.R128H,TIMD4:NM_138379:exon2:c.G383A:p.R128H",T,N,N,T,D,T
chr7,76019510,76019510,G,C,P342989_F,SSC4D,Missense_Mutation,NM_080744,exon11,c.C1594G,p.R532G,SNP,SNVindel,exonic,SSC4D,NA,nonsynonymous SNV,SSC4D:NM_080744:exon11:c.C1594G:p.R532G,D,N,N,T,N,T
chr7,123269488,123269488,G,A,P342989_F,ASB15,Silent,NM_080928,exon8,c.G1440A,p.P480P,SNP,SNVindel,exonic,ASB15,NA,synonymous SNV,"ASB15:NM_080928:exon8:c.G1440A:p.P480P,ASB15:NM_001290258:exon10:c.G1440A:p.P480P",NA,NA,NA,NA,NA,NA
chr8,18393436,18393436,G,C,P342989_F,PSD3,Silent,NM_206909,exon13,c.C1359G,p.L453L,SNP,SNVindel,exonic,PSD3,NA,synonymous SNV,"PSD3:NM_206909:exon13:c.C1359G:p.L453L,PSD3:NM_001362819:exon15:c.C2862G:p.L954L,PSD3:NM_015310:exon16:c.C2961G:p.L987L",NA,NA,NA,NA,NA,NA
chr8,143957151,143957151,A,C,P342989_F,CYP11B1,Silent,NM_000497,exon6,c.T1098G,p.R366R,SNP,SNVindel,exonic,CYP11B1,NA,synonymous SNV,"CYP11B1:NM_000497:exon6:c.T1098G:p.R366R,CYP11B1:NM_001026213:exon6:c.T1098G:p.R366R",NA,NA,NA,NA,NA,NA
chr9,33443432,33443432,G,T,P342989_F,AQP3,Missense_Mutation,NM_001318144,exon3,c.C260A,p.T87N,SNP,SNVindel,exonic,AQP3,NA,nonsynonymous SNV,"AQP3:NM_001318144:exon3:c.C260A:p.T87N,AQP3:NM_004925:exon3:c.C260A:p.T87N",D,D,D,T,N,D
chr9,125315949,125315949,G,A,P342989_F,OR1N2,Silent,NM_001004457,exon1,c.G459A,p.V153V,SNP,SNVindel,exonic,OR1N2,NA,synonymous SNV,OR1N2:NM_001004457:exon1:c.G459A:p.V153V,NA,NA,NA,NA,NA,NA
chr9,128099353,128099353,G,A,P342989_F,GAPVD1,Missense_Mutation,NM_001282681,exon14,c.G2422A,p.D808N,SNP,SNVindel,exonic,GAPVD1,NA,nonsynonymous SNV,"GAPVD1:NM_001282681:exon14:c.G2422A:p.D808N,GAPVD1:NM_001330778:exon14:c.G2485A:p.D829N,GAPVD1:NM_001354294:exon14:c.G2485A:p.D829N,GAPVD1:NM_001330777:exon15:c.G2422A:p.D808N,GAPVD1:NM_001354295:exon15:c.G2485A:p.D829N,GAPVD1:NM_001354298:exon15:c.G2566A:p.D856N,GAPVD1:NM_001354300:exon15:c.G2422A:p.D808N,GAPVD1:NM_015635:exon15:c.G2566A:p.D856N,GAPVD1:NM_001282679:exon16:c.G2485A:p.D829N,GAPVD1:NM_001282680:exon16:c.G2485A:p.D829N,GAPVD1:NM_001354296:exon16:c.G2485A:p.D829N,GAPVD1:NM_001354297:exon16:c.G2422A:p.D808N,GAPVD1:NM_001354301:exon16:c.G2485A:p.D829N,GAPVD1:NM_001354299:exon17:c.G2485A:p.D829N",D,D,D,.,N,T
chr11,50003805,50003805,T,G,P342989_F,OR4C12,Missense_Mutation,NM_001005270,exon1,c.A233C,p.K78T,SNP,SNVindel,exonic,OR4C12,NA,nonsynonymous SNV,OR4C12:NM_001005270:exon1:c.A233C:p.K78T,D,U,N,T,D,T
chr11,56000018,56000018,C,G,P342989_F,OR5T2,Missense_Mutation,NM_001004746,exon1,c.G644C,p.R215P,SNP,SNVindel,exonic,OR5T2,NA,nonsynonymous SNV,OR5T2:NM_001004746:exon1:c.G644C:p.R215P,D,U,N,T,N,T
chr11,89531764,89531764,T,C,P342989_F,TRIM49,Missense_Mutation,NM_020358,exon8,c.A893G,p.N298S,SNP,SNVindel,exonic,TRIM49,NA,nonsynonymous SNV,TRIM49:NM_020358:exon8:c.A893G:p.N298S,T,.,P,T,N,T
chr11,93554207,93554207,C,T,P342989_F,VSTM5,Missense_Mutation,NM_001144871,exon2,c.G374A,p.R125H,SNP,SNVindel,exonic,VSTM5,NA,nonsynonymous SNV,VSTM5:NM_001144871:exon2:c.G374A:p.R125H,T,N,N,T,N,T
chr12,40823474,40823474,G,A,P342989_F,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,54686775,54686775,G,A,P342989_F,NFE2,Missense_Mutation,NM_001136023,exon3,c.C505T,p.R169C,SNP,SNVindel,exonic,NFE2,NA,nonsynonymous SNV,"NFE2:NM_001136023:exon3:c.C505T:p.R169C,NFE2:NM_006163:exon3:c.C505T:p.R169C,NFE2:NM_001261461:exon4:c.C505T:p.R169C",D,N,D,.,N,T
chr13,48936983,48936983,C,T,P342989_F,RB1,Nonsense_Mutation,NM_000321,exon8,c.C751T,p.R251X,SNP,SNVindel,exonic,RB1,NA,stopgain,RB1:NM_000321:exon8:c.C751T:p.R251X,.,D,A,.,.,.
chr15,23685059,23685059,G,C,P342989_F,GOLGA6L2,Missense_Mutation,NM_001304388,exon8,c.C2563G,p.P855A,SNP,SNVindel,exonic,GOLGA6L2,NA,nonsynonymous SNV,GOLGA6L2:NM_001304388:exon8:c.C2563G:p.P855A,.,.,N,T,N,.
chr15,42379593,42379593,C,T,P342989_F,PLA2G4D,Missense_Mutation,NM_178034,exon3,c.G160A,p.A54T,SNP,SNVindel,exonic,PLA2G4D,NA,nonsynonymous SNV,PLA2G4D:NM_178034:exon3:c.G160A:p.A54T,D,N,N,T,D,T
chr16,66514696,66514696,C,T,P342989_F,BEAN1,Silent,NM_001136106,exon4,c.C321T,p.Y107Y,SNP,SNVindel,exonic,BEAN1,NA,synonymous SNV,"BEAN1:NM_001136106:exon4:c.C321T:p.Y107Y,BEAN1:NM_001178020:exon5:c.C648T:p.Y216Y",NA,NA,NA,NA,NA,NA
chr17,7574003,7574003,G,A,P342989_F,TP53,Nonsense_Mutation,NM_001126115,exon6,c.C628T,p.R210X,SNP,SNVindel,exonic,TP53,NA,stopgain,"TP53:NM_001126115:exon6:c.C628T:p.R210X,TP53:NM_001276697:exon6:c.C547T:p.R183X,TP53:NM_001126118:exon9:c.C907T:p.R303X,TP53:NM_000546:exon10:c.C1024T:p.R342X,TP53:NM_001126112:exon10:c.C1024T:p.R342X,TP53:NM_001276760:exon10:c.C907T:p.R303X,TP53:NM_001276761:exon10:c.C907T:p.R303X",.,N,A,.,.,.
chr17,7577517,7577517,A,C,P342989_F,TP53,Missense_Mutation,NM_001126115,exon3,c.T368G,p.I123S,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon3:c.T368G:p.I123S,TP53:NM_001126116:exon3:c.T368G:p.I123S,TP53:NM_001126117:exon3:c.T368G:p.I123S,TP53:NM_001276697:exon3:c.T287G:p.I96S,TP53:NM_001276698:exon3:c.T287G:p.I96S,TP53:NM_001276699:exon3:c.T287G:p.I96S,TP53:NM_001126118:exon6:c.T647G:p.I216S,TP53:NM_000546:exon7:c.T764G:p.I255S,TP53:NM_001126112:exon7:c.T764G:p.I255S,TP53:NM_001126113:exon7:c.T764G:p.I255S,TP53:NM_001126114:exon7:c.T764G:p.I255S,TP53:NM_001276695:exon7:c.T647G:p.I216S,TP53:NM_001276696:exon7:c.T647G:p.I216S,TP53:NM_001276760:exon7:c.T647G:p.I216S,TP53:NM_001276761:exon7:c.T647G:p.I216S",D,D,D,D,D,D
chr17,37265167,37265167,T,C,P342989_F,PLXDC1,Missense_Mutation,NM_020405,exon4,c.A459G,p.I153M,SNP,SNVindel,exonic,PLXDC1,NA,nonsynonymous SNV,PLXDC1:NM_020405:exon4:c.A459G:p.I153M,D,D,D,T,N,D
chr17,39672419,39672419,C,G,P342989_F,KRT15,Missense_Mutation,NM_002275,exon4,c.G837C,p.R279S,SNP,SNVindel,exonic,KRT15,NA,nonsynonymous SNV,KRT15:NM_002275:exon4:c.G837C:p.R279S,D,D,D,D,D,D
chr17,73625343,73625343,G,A,P342989_F,RECQL5,Silent,NM_004259,exon16,c.C2160T,p.S720S,SNP,SNVindel,exonic,RECQL5,NA,synonymous SNV,RECQL5:NM_004259:exon16:c.C2160T:p.S720S,NA,NA,NA,NA,NA,NA
chr17,76200951,76200951,C,T,P342989_F,AFMID,Missense_Mutation,NM_001010982,exon6,c.C437T,p.A146V,SNP,SNVindel,exonic,AFMID,NA,nonsynonymous SNV,"AFMID:NM_001010982:exon6:c.C437T:p.A146V,AFMID:NM_001145526:exon6:c.C437T:p.A146V",T,N,N,T,N,T
chr18,743331,743331,C,T,P342989_F,YES1,Nonsense_Mutation,NM_005433,exon7,c.G809A,p.W270X,SNP,SNVindel,exonic,YES1,NA,stopgain,YES1:NM_005433:exon7:c.G809A:p.W270X,.,D,A,.,.,.
chr18,46385878,46385878,C,G,P342989_F,CTIF,Missense_Mutation,NM_014772,exon12,c.C1745G,p.T582R,SNP,SNVindel,exonic,CTIF,NA,nonsynonymous SNV,"CTIF:NM_014772:exon12:c.C1745G:p.T582R,CTIF:NM_001142397:exon13:c.C1751G:p.T584R",T,D,D,T,N,T
chr18,77170793,77170793,C,T,P342989_F,NFATC1,Missense_Mutation,NM_001278669,exon2,c.C518T,p.P173L,SNP,SNVindel,exonic,NFATC1,NA,nonsynonymous SNV,"NFATC1:NM_001278669:exon2:c.C518T:p.P173L,NFATC1:NM_001278670:exon2:c.C518T:p.P173L,NFATC1:NM_001278672:exon2:c.C479T:p.P160L,NFATC1:NM_001278675:exon2:c.C479T:p.P160L,NFATC1:NM_006162:exon2:c.C518T:p.P173L,NFATC1:NM_172387:exon2:c.C479T:p.P160L,NFATC1:NM_172389:exon2:c.C479T:p.P160L,NFATC1:NM_172390:exon2:c.C518T:p.P173L",D,D,D,T,D,D
chr19,8661000,8661000,C,T,P342989_F,ADAMTS10,Missense_Mutation,NM_030957,exon11,c.G1294A,p.V432M,SNP,SNVindel,exonic,ADAMTS10,NA,nonsynonymous SNV,ADAMTS10:NM_030957:exon11:c.G1294A:p.V432M,D,U,D,T,N,T
chr19,39926521,39926521,G,A,P342989_F,RPS16,Silent,NM_001020,exon1,c.C15T,p.G5G,SNP,SNVindel,exonic,RPS16,NA,synonymous SNV,"RPS16:NM_001020:exon1:c.C15T:p.G5G,RPS16:NM_001321111:exon1:c.C15T:p.G5G,RPS16:NM_001363860:exon1:c.C15T:p.G5G",NA,NA,NA,NA,NA,NA
chr20,17970587,17970587,A,G,P342989_F,MGME1,Missense_Mutation,NM_001310339,exon3,c.A517G,p.M173V,SNP,SNVindel,exonic,MGME1,NA,nonsynonymous SNV,MGME1:NM_001310339:exon3:c.A517G:p.M173V,D,.,D,T,N,T
chr21,43161012,43161012,G,A,P342989_F,RIPK4,Nonsense_Mutation,NM_020639,exon8,c.C2341T,p.R781X,SNP,SNVindel,exonic,RIPK4,NA,stopgain,RIPK4:NM_020639:exon8:c.C2341T:p.R781X,.,N,N,.,.,.
chr22,16287511,16287511,G,A,P342989_F,POTEH,Silent,NM_001136213,exon1,c.C375T,p.D125D,SNP,SNVindel,exonic,POTEH,NA,synonymous SNV,POTEH:NM_001136213:exon1:c.C375T:p.D125D,NA,NA,NA,NA,NA,NA
chr22,31523381,31523381,C,T,P342989_F,INPP5J,Silent,NM_001284287,exon5,c.C345T,p.F115F,SNP,SNVindel,exonic,INPP5J,NA,synonymous SNV,"INPP5J:NM_001284287:exon5:c.C345T:p.F115F,INPP5J:NM_001002837:exon6:c.C546T:p.F182F,INPP5J:NM_001284285:exon6:c.C1650T:p.F550F,INPP5J:NM_001284286:exon7:c.C1449T:p.F483F,INPP5J:NM_001284288:exon7:c.C549T:p.F183F,INPP5J:NM_001284289:exon8:c.C549T:p.F183F",NA,NA,NA,NA,NA,NA
chr22,37771182,37771182,G,A,P342989_F,ELFN2,Silent,NM_052906,exon3,c.C393T,p.F131F,SNP,SNVindel,exonic,ELFN2,NA,synonymous SNV,ELFN2:NM_052906:exon3:c.C393T:p.F131F,NA,NA,NA,NA,NA,NA
chrX,74636989,74636989,C,G,P342989_F,ZDHHC15,Missense_Mutation,NM_001146256,exon9,c.G873C,p.M291I,SNP,SNVindel,exonic,ZDHHC15,NA,nonsynonymous SNV,"ZDHHC15:NM_001146256:exon9:c.G873C:p.M291I,ZDHHC15:NM_144969:exon10:c.G900C:p.M300I",T,N,D,T,N,T
chr2,131369273,131369273,A,T,P342989_S,POTEJ,Silent,NM_001277083,exon1,c.A168T,p.T56T,SNP,SNVindel,exonic,POTEJ,NA,synonymous SNV,POTEJ:NM_001277083:exon1:c.A168T:p.T56T,NA,NA,NA,NA,NA,NA
chr2,179412300,179412300,C,T,P342989_S,TTN,Silent,NM_003319,exon167,c.G66858A,p.S22286S,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon167:c.G66858A:p.S22286S,TTN:NM_133432:exon168:c.G67233A:p.S22411S,TTN:NM_133437:exon168:c.G67434A:p.S22478S,TTN:NM_133378:exon288:c.G86349A:p.S28783S,TTN:NM_001256850:exon289:c.G89130A:p.S29710S,TTN:NM_001267550:exon339:c.G94053A:p.S31351S",NA,NA,NA,NA,NA,NA
chr8,10467702,10467702,T,C,P342989_S,RP1L1,Silent,NM_178857,exon4,c.A3906G,p.Q1302Q,SNP,SNVindel,exonic,RP1L1,NA,synonymous SNV,RP1L1:NM_178857:exon4:c.A3906G:p.Q1302Q,NA,NA,NA,NA,NA,NA
chr16,29395079,29395079,G,C,P342989_S,NPIPB11,Missense_Mutation,NM_001310137,exon8,c.C1174G,p.P392A,SNP,SNVindel,exonic,NPIPB11,NA,nonsynonymous SNV,NPIPB11:NM_001310137:exon8:c.C1174G:p.P392A,D,.,N,T,D,T
chr19,39926521,39926521,G,A,P342989_S,RPS16,Silent,NM_001020,exon1,c.C15T,p.G5G,SNP,SNVindel,exonic,RPS16,NA,synonymous SNV,"RPS16:NM_001020:exon1:c.C15T:p.G5G,RPS16:NM_001321111:exon1:c.C15T:p.G5G,RPS16:NM_001363860:exon1:c.C15T:p.G5G",NA,NA,NA,NA,NA,NA
chr1,63991311,63991311,G,A,P364157_F,EFCAB7,Missense_Mutation,NM_032437,exon2,c.G68A,p.R23Q,SNP,SNVindel,exonic,EFCAB7,NA,nonsynonymous SNV,EFCAB7:NM_032437:exon2:c.G68A:p.R23Q,T,N,N,T,N,T
chr1,114499286,114499286,T,G,P364157_F,HIPK1,Missense_Mutation,NM_181358,exon4,c.T263G,p.L88W,SNP,SNVindel,exonic,HIPK1,NA,nonsynonymous SNV,"HIPK1:NM_181358:exon4:c.T263G:p.L88W,HIPK1:NM_198269:exon5:c.T323G:p.L108W,HIPK1:NM_001369806:exon6:c.T1445G:p.L482W,HIPK1:NM_001369807:exon6:c.T1445G:p.L482W,HIPK1:NM_152696:exon6:c.T1445G:p.L482W,HIPK1:NM_198268:exon6:c.T1445G:p.L482W",D,D,D,T,D,T
chr1,145323656,145323656,A,T,P364157_F,NBPF10,Missense_Mutation,NM_001039703,exon29,c.A3718T,p.I1240F,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon29:c.A3718T:p.I1240F,NBPF10:NM_001302371:exon29:c.A3718T:p.I1240F",.,.,N,.,.,T
chr1,155269926,155269926,G,A,P364157_F,PKLR,Silent,NM_000298,exon2,c.C246T,p.P82P,SNP,SNVindel,exonic,PKLR,NA,synonymous SNV,"PKLR:NM_000298:exon2:c.C246T:p.P82P,PKLR:NM_181871:exon2:c.C153T:p.P51P",NA,NA,NA,NA,NA,NA
chr1,160321569,160321569,G,A,P364157_F,NCSTN,Missense_Mutation,NM_001349729,exon7,c.G817A,p.D273N,SNP,SNVindel,exonic,NCSTN,NA,nonsynonymous SNV,"NCSTN:NM_001349729:exon7:c.G817A:p.D273N,NCSTN:NM_015331:exon7:c.G817A:p.D273N,NCSTN:NM_001290184:exon8:c.G757A:p.D253N",T,D,D,T,N,T
chr1,173010571,173010571,T,G,P364157_F,TNFSF18,Missense_Mutation,NM_005092,exon3,c.A536C,p.Q179P,SNP,SNVindel,exonic,TNFSF18,NA,nonsynonymous SNV,TNFSF18:NM_005092:exon3:c.A536C:p.Q179P,D,N,N,D,D,D
chr1,176564065,176564065,C,G,P364157_F,PAPPA2,Missense_Mutation,NM_020318,exon3,c.C1325G,p.S442C,SNP,SNVindel,exonic,PAPPA2,NA,nonsynonymous SNV,"PAPPA2:NM_020318:exon3:c.C1325G:p.S442C,PAPPA2:NM_021936:exon3:c.C1325G:p.S442C",T,N,N,T,N,T
chr1,200880604,200880604,C,T,P364157_F,INAVA,Missense_Mutation,NM_001142569,exon9,c.C983T,p.P328L,SNP,SNVindel,exonic,INAVA,NA,nonsynonymous SNV,"INAVA:NM_001142569:exon9:c.C983T:p.P328L,INAVA:NM_001367289:exon9:c.C983T:p.P328L,INAVA:NM_001367290:exon9:c.C446T:p.P149L,INAVA:NM_018265:exon9:c.C1238T:p.P413L",T,N,N,T,N,T
chr1,204101336,204101336,C,T,P364157_F,ETNK2,Silent,NM_001297761,exon7,c.G603A,p.A201A,SNP,SNVindel,exonic,ETNK2,NA,synonymous SNV,"ETNK2:NM_001297761:exon7:c.G603A:p.A201A,ETNK2:NM_001297762:exon7:c.G1014A:p.A338A,ETNK2:NM_018208:exon8:c.G1137A:p.A379A",NA,NA,NA,NA,NA,NA
chr1,240070843,240070843,C,T,P364157_F,CHRM3,Missense_Mutation,NM_000740,exon5,c.C92T,p.P31L,SNP,SNVindel,exonic,CHRM3,NA,nonsynonymous SNV,"CHRM3:NM_000740:exon5:c.C92T:p.P31L,CHRM3:NM_001347716:exon8:c.C92T:p.P31L",T,N,D,T,N,T
chr2,32626295,32626295,C,T,P364157_F,BIRC6,Missense_Mutation,NM_016252,exon7,c.C1099T,p.P367S,SNP,SNVindel,exonic,BIRC6,NA,nonsynonymous SNV,BIRC6:NM_016252:exon7:c.C1099T:p.P367S,D,D,D,T,D,T
chr2,70455589,70455589,C,G,P364157_F,TIA1,Missense_Mutation,NM_001351520,exon6,c.G322C,p.V108L,SNP,SNVindel,exonic,TIA1,NA,nonsynonymous SNV,TIA1:NM_001351520:exon6:c.G322C:p.V108L,NA,NA,NA,NA,NA,NA
chr2,101635477,101635477,G,A,P364157_F,RPL31,Missense_Mutation,NM_001098577,exon5,c.G364A,p.V122I,SNP,SNVindel,exonic,RPL31,NA,nonsynonymous SNV,RPL31:NM_001098577:exon5:c.G364A:p.V122I,T,.,N,.,N,T
chr2,215013945,215013945,G,A,P364157_F,SPAG16,Missense_Mutation,NM_024532,exon15,c.G1675A,p.D559N,SNP,SNVindel,exonic,SPAG16,NA,nonsynonymous SNV,SPAG16:NM_024532:exon15:c.G1675A:p.D559N,T,D,D,T,D,T
chr3,361497,361497,A,G,P364157_F,CHL1,Missense_Mutation,NM_001253388,exon1,c.A38G,p.Y13C,SNP,SNVindel,exonic,CHL1,NA,nonsynonymous SNV,"CHL1:NM_001253388:exon1:c.A38G:p.Y13C,CHL1:NM_001253387:exon3:c.A38G:p.Y13C,CHL1:NM_006614:exon3:c.A38G:p.Y13C",T,N,N,T,N,T
chr3,48629354,48629354,C,T,P364157_F,COL7A1,Missense_Mutation,NM_000094,exon10,c.G1334A,p.R445Q,SNP,SNVindel,exonic,COL7A1,NA,nonsynonymous SNV,COL7A1:NM_000094:exon10:c.G1334A:p.R445Q,D,N,D,T,N,T
chr3,48687950,48687950,G,A,P364157_F,CELSR3,Silent,NM_001407,exon16,c.C6435T,p.G2145G,SNP,SNVindel,exonic,CELSR3,NA,synonymous SNV,CELSR3:NM_001407:exon16:c.C6435T:p.G2145G,NA,NA,NA,NA,NA,NA
chr3,74334504,74334504,C,T,P364157_F,CNTN3,Missense_Mutation,NM_020872,exon19,c.G2656A,p.G886S,SNP,SNVindel,exonic,CNTN3,NA,nonsynonymous SNV,CNTN3:NM_020872:exon19:c.G2656A:p.G886S,D,D,D,T,D,D
chr3,134089855,134089855,G,A,P364157_F,AMOTL2,Missense_Mutation,NM_001278683,exon2,c.C595T,p.R199W,SNP,SNVindel,exonic,AMOTL2,NA,nonsynonymous SNV,"AMOTL2:NM_001278683:exon2:c.C595T:p.R199W,AMOTL2:NM_001278685:exon2:c.C421T:p.R141W,AMOTL2:NM_001363943:exon2:c.C421T:p.R141W,AMOTL2:NM_016201:exon2:c.C421T:p.R141W",T,N,N,T,N,T
chr3,184045084,184045084,G,A,P364157_F,EIF4G1,Missense_Mutation,NM_004953,exon17,c.G2924A,p.R975H,SNP,SNVindel,exonic,EIF4G1,NA,nonsynonymous SNV,"EIF4G1:NM_004953:exon17:c.G2924A:p.R975H,EIF4G1:NM_198242:exon20:c.G3017A:p.R1006H,EIF4G1:NM_198244:exon21:c.G3248A:p.R1083H,EIF4G1:NM_182917:exon23:c.G3512A:p.R1171H,EIF4G1:NM_001194947:exon24:c.G3530A:p.R1177H,EIF4G1:NM_001291157:exon24:c.G3389A:p.R1130H,EIF4G1:NM_198241:exon24:c.G3509A:p.R1170H,EIF4G1:NM_001194946:exon25:c.G3530A:p.R1177H",T,D,D,T,N,T
chr4,26432056,26432056,G,C,P364157_F,RBPJ,Missense_Mutation,NM_001363577,exon10,c.G994C,p.D332H,SNP,SNVindel,exonic,RBPJ,NA,nonsynonymous SNV,"RBPJ:NM_001363577:exon10:c.G994C:p.D332H,RBPJ:NM_015874:exon10:c.G1060C:p.D354H,RBPJ:NM_203283:exon10:c.G1054C:p.D352H,RBPJ:NM_005349:exon11:c.G1099C:p.D367H,RBPJ:NM_203284:exon11:c.G1057C:p.D353H",T,D,D,T,D,T
chr5,11159742,11159742,C,T,P364157_F,CTNND2,Missense_Mutation,NM_001288716,exon9,c.G1094A,p.R365Q,SNP,SNVindel,exonic,CTNND2,NA,nonsynonymous SNV,"CTNND2:NM_001288716:exon9:c.G1094A:p.R365Q,CTNND2:NM_001364128:exon9:c.G1094A:p.R365Q,CTNND2:NM_001288715:exon11:c.G1832A:p.R611Q,CTNND2:NM_001288717:exon11:c.G806A:p.R269Q,CTNND2:NM_001332:exon12:c.G2105A:p.R702Q",T,D,D,T,N,T
chr5,14485302,14485302,C,T,P364157_F,TRIO,Missense_Mutation,NM_007118,exon47,c.C6782T,p.T2261I,SNP,SNVindel,exonic,TRIO,NA,nonsynonymous SNV,TRIO:NM_007118:exon47:c.C6782T:p.T2261I,T,N,N,T,N,T
chr5,140562422,140562422,C,T,P364157_F,PCDHB16,Silent,NM_020957,exon1,c.C288T,p.C96C,SNP,SNVindel,exonic,PCDHB16,NA,synonymous SNV,PCDHB16:NM_020957:exon1:c.C288T:p.C96C,NA,NA,NA,NA,NA,NA
chr5,140745533,140745533,G,A,P364157_F,PCDHGA5,Missense_Mutation,NM_018918,exon1,c.G1636A,p.V546M,SNP,SNVindel,exonic,PCDHGA5,NA,nonsynonymous SNV,"PCDHGA5:NM_018918:exon1:c.G1636A:p.V546M,PCDHGA5:NM_032054:exon1:c.G1636A:p.V546M",D,.,D,T,N,T
chr5,149441393,149441393,C,T,P364157_F,CSF1R,Missense_Mutation,NM_001288705,exon11,c.G1646A,p.R549H,SNP,SNVindel,exonic,CSF1R,NA,nonsynonymous SNV,"CSF1R:NM_001288705:exon11:c.G1646A:p.R549H,CSF1R:NM_005211:exon12:c.G1646A:p.R549H,CSF1R:NM_001349736:exon13:c.G1646A:p.R549H",D,D,D,D,N,D
chr6,36938183,36938183,C,T,P364157_F,MTCH1,Missense_Mutation,NM_001271641,exon10,c.G1021A,p.G341R,SNP,SNVindel,exonic,MTCH1,NA,nonsynonymous SNV,"MTCH1:NM_001271641:exon10:c.G1021A:p.G341R,MTCH1:NM_014341:exon10:c.G970A:p.G324R",T,D,D,T,D,T
chr6,131276265,131276265,C,T,P364157_F,EPB41L2,Missense_Mutation,NM_001135554,exon3,c.G685A,p.E229K,SNP,SNVindel,exonic,EPB41L2,NA,nonsynonymous SNV,"EPB41L2:NM_001135554:exon3:c.G685A:p.E229K,EPB41L2:NM_001135555:exon3:c.G685A:p.E229K,EPB41L2:NM_001199388:exon3:c.G685A:p.E229K,EPB41L2:NM_001252660:exon3:c.G685A:p.E229K,EPB41L2:NM_001350299:exon3:c.G685A:p.E229K,EPB41L2:NM_001350301:exon3:c.G685A:p.E229K,EPB41L2:NM_001350302:exon3:c.G685A:p.E229K,EPB41L2:NM_001350303:exon3:c.G685A:p.E229K,EPB41L2:NM_001350304:exon3:c.G685A:p.E229K,EPB41L2:NM_001350305:exon3:c.G685A:p.E229K,EPB41L2:NM_001350306:exon3:c.G685A:p.E229K,EPB41L2:NM_001350307:exon3:c.G685A:p.E229K,EPB41L2:NM_001350308:exon3:c.G685A:p.E229K,EPB41L2:NM_001350309:exon3:c.G685A:p.E229K,EPB41L2:NM_001350310:exon3:c.G685A:p.E229K,EPB41L2:NM_001350311:exon3:c.G685A:p.E229K,EPB41L2:NM_001350312:exon3:c.G685A:p.E229K,EPB41L2:NM_001350313:exon3:c.G685A:p.E229K,EPB41L2:NM_001350314:exon3:c.G685A:p.E229K,EPB41L2:NM_001350315:exon3:c.G685A:p.E229K,EPB41L2:NM_001431:exon3:c.G685A:p.E229K",T,D,D,T,D,T
chr7,43484795,43484795,C,T,P364157_F,HECW1,Missense_Mutation,NM_001287059,exon10,c.C2024T,p.A675V,SNP,SNVindel,exonic,HECW1,NA,nonsynonymous SNV,"HECW1:NM_001287059:exon10:c.C2024T:p.A675V,HECW1:NM_015052:exon11:c.C2024T:p.A675V",T,U,N,T,N,T
chr7,44840986,44840986,A,C,P364157_F,PPIA,Missense_Mutation,NM_021130,exon5,c.A463C,p.K155Q,SNP,SNVindel,exonic,PPIA,NA,nonsynonymous SNV,"PPIA:NM_021130:exon5:c.A463C:p.K155Q,PPIA:NM_001300981:exon6:c.A283C:p.K95Q",D,U,D,T,D,T
chr7,103141230,103141230,A,G,P364157_F,RELN,Missense_Mutation,NM_005045,exon53,c.T8629C,p.Y2877H,SNP,SNVindel,exonic,RELN,NA,nonsynonymous SNV,"RELN:NM_005045:exon53:c.T8629C:p.Y2877H,RELN:NM_173054:exon53:c.T8629C:p.Y2877H",D,D,D,T,N,T
chr7,127017259,127017259,T,C,P364157_F,ZNF800,Silent,NM_176814,exon4,c.A282G,p.P94P,SNP,SNVindel,exonic,ZNF800,NA,synonymous SNV,ZNF800:NM_176814:exon4:c.A282G:p.P94P,NA,NA,NA,NA,NA,NA
chr7,128481296,128481296,G,A,P364157_F,FLNC,Missense_Mutation,NM_001127487,exon12,c.G1886A,p.R629Q,SNP,SNVindel,exonic,FLNC,NA,nonsynonymous SNV,"FLNC:NM_001127487:exon12:c.G1886A:p.R629Q,FLNC:NM_001458:exon12:c.G1886A:p.R629Q",D,N,D,D,N,D
chr7,143095078,143095078,C,T,P364157_F,EPHA1,Missense_Mutation,NM_005232,exon8,c.G1550A,p.R517Q,SNP,SNVindel,exonic,EPHA1,NA,nonsynonymous SNV,EPHA1:NM_005232:exon8:c.G1550A:p.R517Q,T,D,D,T,N,T
chr8,17920713,17920713,C,A,P364157_F,ASAH1,Missense_Mutation,NM_001127505,exon7,c.G466T,p.D156Y,SNP,SNVindel,exonic,ASAH1,NA,nonsynonymous SNV,"ASAH1:NM_001127505:exon7:c.G466T:p.D156Y,ASAH1:NM_001363743:exon7:c.G289T:p.D97Y,ASAH1:NM_004315:exon7:c.G532T:p.D178Y,ASAH1:NM_177924:exon7:c.G484T:p.D162Y",D,D,D,D,D,D
chr8,71068869,71068869,C,T,P364157_F,NCOA2,Missense_Mutation,NM_001321713,exon10,c.G1269A,p.M423I,SNP,SNVindel,exonic,NCOA2,NA,nonsynonymous SNV,"NCOA2:NM_001321713:exon10:c.G1269A:p.M423I,NCOA2:NM_001321703:exon11:c.G1731A:p.M577I,NCOA2:NM_001321707:exon11:c.G1731A:p.M577I,NCOA2:NM_001321711:exon11:c.G1731A:p.M577I,NCOA2:NM_001321712:exon11:c.G1731A:p.M577I,NCOA2:NM_006540:exon11:c.G1731A:p.M577I",T,N,D,T,N,T
chr8,87060857,87060857,T,C,P364157_F,PSKH2,Missense_Mutation,NM_033126,exon3,c.A992G,p.N331S,SNP,SNVindel,exonic,PSKH2,NA,nonsynonymous SNV,PSKH2:NM_033126:exon3:c.A992G:p.N331S,D,.,N,T,D,T
chr8,87563411,87563411,G,A,P364157_F,CPNE3,Missense_Mutation,NM_003909,exon14,c.G1069A,p.V357I,SNP,SNVindel,exonic,CPNE3,NA,nonsynonymous SNV,CPNE3:NM_003909:exon14:c.G1069A:p.V357I,T,D,D,T,N,T
chr8,113259249,113259249,G,A,P364157_F,CSMD3,Missense_Mutation,NM_001363185,exon60,c.C9622T,p.P3208S,SNP,SNVindel,exonic,CSMD3,NA,nonsynonymous SNV,"CSMD3:NM_001363185:exon60:c.C9622T:p.P3208S,CSMD3:NM_052900:exon62:c.C9715T:p.P3239S,CSMD3:NM_198123:exon64:c.C10222T:p.P3408S,CSMD3:NM_198124:exon65:c.C10102T:p.P3368S",D,N,D,T,D,T
chr8,142161737,142161737,C,T,P364157_F,DENND3,Missense_Mutation,NM_001352890,exon7,c.C875T,p.T292M,SNP,SNVindel,exonic,DENND3,NA,nonsynonymous SNV,"DENND3:NM_001352890:exon7:c.C875T:p.T292M,DENND3:NM_001362798:exon7:c.C875T:p.T292M,DENND3:NM_014957:exon7:c.C674T:p.T225M",T,D,N,T,N,T
chr8,145583658,145583658,G,A,P364157_F,SLC52A2,Missense_Mutation,NM_001253815,exon3,c.G506A,p.R169H,SNP,SNVindel,exonic,SLC52A2,NA,nonsynonymous SNV,"SLC52A2:NM_001253815:exon3:c.G506A:p.R169H,SLC52A2:NM_001253816:exon3:c.G506A:p.R169H,SLC52A2:NM_001363118:exon3:c.G506A:p.R169H,SLC52A2:NM_001363120:exon3:c.G506A:p.R169H,SLC52A2:NM_001363121:exon3:c.G506A:p.R169H,SLC52A2:NM_024531:exon3:c.G506A:p.R169H",T,N,D,T,N,T
chr9,72091052,72091052,G,T,P364157_F,APBA1,Missense_Mutation,NM_001163,exon3,c.C1208A,p.S403Y,SNP,SNVindel,exonic,APBA1,NA,nonsynonymous SNV,APBA1:NM_001163:exon3:c.C1208A:p.S403Y,T,N,D,T,N,T
chr9,77436630,77436630,G,A,P364157_F,TRPM6,Missense_Mutation,NM_001177310,exon8,c.C950T,p.A317V,SNP,SNVindel,exonic,TRPM6,NA,nonsynonymous SNV,"TRPM6:NM_001177310:exon8:c.C950T:p.A317V,TRPM6:NM_001177311:exon8:c.C950T:p.A317V,TRPM6:NM_017662:exon8:c.C965T:p.A322V",T,D,D,T,D,T
chr9,82324583,82324583,C,A,P364157_F,TLE4,Missense_Mutation,NM_001351564,exon11,c.C1027A,p.P343T,SNP,SNVindel,exonic,TLE4,NA,nonsynonymous SNV,"TLE4:NM_001351564:exon11:c.C1027A:p.P343T,TLE4:NM_001282753:exon12:c.C1102A:p.P368T,TLE4:NM_001351562:exon12:c.C1081A:p.P361T,TLE4:NM_001351563:exon12:c.C1075A:p.P359T,TLE4:NM_001282749:exon13:c.C1234A:p.P412T,TLE4:NM_001351547:exon13:c.C1258A:p.P420T,TLE4:NM_001351550:exon13:c.C1249A:p.P417T,TLE4:NM_001351552:exon13:c.C1246A:p.P416T,TLE4:NM_001351556:exon13:c.C1240A:p.P414T,TLE4:NM_001351558:exon13:c.C1237A:p.P413T,TLE4:NM_001351560:exon13:c.C1231A:p.P411T,TLE4:NM_001351542:exon14:c.C1312A:p.P438T,TLE4:NM_001351543:exon14:c.C1306A:p.P436T,TLE4:NM_001351546:exon14:c.C1303A:p.P435T,TLE4:NM_007005:exon14:c.C1309A:p.P437T,TLE4:NM_001282748:exon15:c.C1405A:p.P469T,TLE4:NM_001282760:exon15:c.C946A:p.P316T,TLE4:NM_001351541:exon15:c.C1348A:p.P450T",T,D,D,T,N,T
chr10,5959634,5959634,C,T,P364157_F,FBH1,Missense_Mutation,NM_001258452,exon12,c.C1736T,p.T579I,SNP,SNVindel,exonic,FBH1,NA,nonsynonymous SNV,"FBH1:NM_001258452:exon12:c.C1736T:p.T579I,FBH1:NM_178150:exon12:c.C1958T:p.T653I,FBH1:NM_001258453:exon13:c.C1736T:p.T579I,FBH1:NM_032807:exon13:c.C2111T:p.T704I",D,D,D,D,D,D
chr10,69666651,69666651,G,A,P364157_F,SIRT1,Silent,NM_001314049,exon3,c.G138A,p.T46T,SNP,SNVindel,exonic,SIRT1,NA,synonymous SNV,"SIRT1:NM_001314049:exon3:c.G138A:p.T46T,SIRT1:NM_001142498:exon4:c.G162A:p.T54T,SIRT1:NM_012238:exon5:c.G1047A:p.T349T",NA,NA,NA,NA,NA,NA
chr10,89501037,89501037,G,A,P364157_F,PAPSS2,Missense_Mutation,NM_004670,exon9,c.G1117A,p.V373M,SNP,SNVindel,exonic,PAPSS2,NA,nonsynonymous SNV,"PAPSS2:NM_004670:exon9:c.G1117A:p.V373M,PAPSS2:NM_001015880:exon10:c.G1132A:p.V378M",T,D,D,T,N,T
chr10,102240761,102240761,G,A,P364157_F,WNT8B,Missense_Mutation,NM_003393,exon4,c.G248A,p.R83Q,SNP,SNVindel,exonic,WNT8B,NA,nonsynonymous SNV,WNT8B:NM_003393:exon4:c.G248A:p.R83Q,D,D,D,T,D,D
chr11,5410923,5410923,T,G,P364157_F,OR51M1,Missense_Mutation,NM_001004756,exon1,c.T295G,p.F99V,SNP,SNVindel,exonic,OR51M1,NA,nonsynonymous SNV,OR51M1:NM_001004756:exon1:c.T295G:p.F99V,T,U,N,T,D,T
chr11,18291344,18291344,G,A,P364157_F,SAA1,Missense_Mutation,NM_000331,exon4,c.G311A,p.G104D,SNP,SNVindel,exonic,SAA1,NA,nonsynonymous SNV,"SAA1:NM_000331:exon4:c.G311A:p.G104D,SAA1:NM_199161:exon4:c.G311A:p.G104D,SAA1:NM_001178006:exon5:c.G311A:p.G104D",D,D,D,T,D,T
chr11,72533570,72533570,G,A,P364157_F,ATG16L2,Missense_Mutation,NM_001318766,exon6,c.G374A,p.R125Q,SNP,SNVindel,exonic,ATG16L2,NA,nonsynonymous SNV,"ATG16L2:NM_001318766:exon6:c.G374A:p.R125Q,ATG16L2:NM_033388:exon6:c.G692A:p.R231Q",D,N,D,T,N,T
chr12,57573661,57573661,G,A,P364157_F,LRP1,Missense_Mutation,NM_002332,exon30,c.G5063A,p.R1688Q,SNP,SNVindel,exonic,LRP1,NA,nonsynonymous SNV,LRP1:NM_002332:exon30:c.G5063A:p.R1688Q,T,D,D,D,N,D
chr12,131561403,131561403,G,A,P364157_F,ADGRD1,Missense_Mutation,NM_198827,exon14,c.G1531A,p.A511T,SNP,SNVindel,exonic,ADGRD1,NA,nonsynonymous SNV,"ADGRD1:NM_198827:exon14:c.G1531A:p.A511T,ADGRD1:NM_001330497:exon15:c.G1627A:p.A543T",D,D,D,T,N,T
chr13,25480102,25480102,G,A,P364157_F,CENPJ,Missense_Mutation,NM_018451,exon7,c.C2074T,p.R692C,SNP,SNVindel,exonic,CENPJ,NA,nonsynonymous SNV,CENPJ:NM_018451:exon7:c.C2074T:p.R692C,D,N,N,T,N,T
chr13,109365058,109365058,G,A,P364157_F,MYO16,Silent,NM_001198950,exon3,c.G342A,p.S114S,SNP,SNVindel,exonic,MYO16,NA,synonymous SNV,"MYO16:NM_001198950:exon3:c.G342A:p.S114S,MYO16:NM_015011:exon3:c.G276A:p.S92S",NA,NA,NA,NA,NA,NA
chr13,114758016,114758016,C,T,P364157_F,RASA3,Silent,NM_001320822,exon22,c.G2094A,p.T698T,SNP,SNVindel,exonic,RASA3,NA,synonymous SNV,"RASA3:NM_001320822:exon22:c.G2094A:p.T698T,RASA3:NM_007368:exon22:c.G2190A:p.T730T,RASA3:NM_001320821:exon24:c.G1041A:p.T347T",NA,NA,NA,NA,NA,NA
chr14,77269771,77269771,C,T,P364157_F,ANGEL1,Missense_Mutation,NM_001370748,exon7,c.G1561A,p.A521T,SNP,SNVindel,exonic,ANGEL1,NA,nonsynonymous SNV,"ANGEL1:NM_001370748:exon7:c.G1561A:p.A521T,ANGEL1:NM_015305:exon7:c.G1561A:p.A521T,ANGEL1:NM_001370746:exon9:c.G1720A:p.A574T,ANGEL1:NM_001370747:exon9:c.G1720A:p.A574T",D,D,D,T,N,D
chr15,28420696,28420696,C,T,P364157_F,HERC2,Missense_Mutation,NM_004667,exon64,c.G9793A,p.G3265R,SNP,SNVindel,exonic,HERC2,NA,nonsynonymous SNV,HERC2:NM_004667:exon64:c.G9793A:p.G3265R,D,D,D,D,D,D
chr16,88503705,88503705,G,A,P364157_F,ZNF469,Missense_Mutation,NM_001367624,exon1,c.G9827A,p.R3276H,SNP,SNVindel,exonic,ZNF469,NA,nonsynonymous SNV,ZNF469:NM_001367624:exon1:c.G9827A:p.R3276H,T,.,N,T,N,T
chr17,4455569,4455569,C,T,P364157_F,MYBBP1A,Silent,NM_001105538,exon7,c.G756A,p.K252K,SNP,SNVindel,exonic,MYBBP1A,NA,synonymous SNV,"MYBBP1A:NM_001105538:exon7:c.G756A:p.K252K,MYBBP1A:NM_014520:exon7:c.G756A:p.K252K",NA,NA,NA,NA,NA,NA
chr17,7919326,7919326,G,A,P364157_F,GUCY2D,Missense_Mutation,NM_000180,exon17,c.G3125A,p.R1042H,SNP,SNVindel,exonic,GUCY2D,NA,nonsynonymous SNV,GUCY2D:NM_000180:exon17:c.G3125A:p.R1042H,D,D,N,T,D,T
chr17,42337808,42337808,C,T,P364157_F,SLC4A1,Missense_Mutation,NM_000342,exon6,c.G449A,p.R150Q,SNP,SNVindel,exonic,SLC4A1,NA,nonsynonymous SNV,SLC4A1:NM_000342:exon6:c.G449A:p.R150Q,T,N,D,T,D,T
chr17,56274501,56274501,C,T,P364157_F,EPX,Silent,NM_000502,exon7,c.C1003T,p.L335L,SNP,SNVindel,exonic,EPX,NA,synonymous SNV,EPX:NM_000502:exon7:c.C1003T:p.L335L,NA,NA,NA,NA,NA,NA
chr17,63173854,63173854,G,T,P364157_F,RGS9,Missense_Mutation,NM_001081955,exon9,c.G587T,p.G196V,SNP,SNVindel,exonic,RGS9,NA,nonsynonymous SNV,"RGS9:NM_001081955:exon9:c.G587T:p.G196V,RGS9:NM_001165933:exon9:c.G587T:p.G196V,RGS9:NM_003835:exon9:c.G587T:p.G196V",D,D,D,T,D,T
chr18,21112189,21112189,G,A,P364157_F,NPC1,Missense_Mutation,NM_000271,exon25,c.C3814T,p.R1272C,SNP,SNVindel,exonic,NPC1,NA,nonsynonymous SNV,NPC1:NM_000271:exon25:c.C3814T:p.R1272C,D,D,D,T,N,D
chr18,43450574,43450574,C,T,P364157_F,EPG5,Silent,NM_020964,exon36,c.G6183A,p.K2061K,SNP,SNVindel,exonic,EPG5,NA,synonymous SNV,EPG5:NM_020964:exon36:c.G6183A:p.K2061K,NA,NA,NA,NA,NA,NA
chr19,5844330,5844330,G,A,P364157_F,FUT3,Missense_Mutation,NM_001097641,exon2,c.C521T,p.P174L,SNP,SNVindel,exonic,FUT3,NA,nonsynonymous SNV,"FUT3:NM_001097641:exon2:c.C521T:p.P174L,FUT3:NM_000149:exon3:c.C521T:p.P174L,FUT3:NM_001097639:exon3:c.C521T:p.P174L,FUT3:NM_001097640:exon3:c.C521T:p.P174L",T,N,N,T,D,T
chr19,31769652,31769652,G,A,P364157_F,TSHZ3,Silent,NM_020856,exon2,c.C1047T,p.N349N,SNP,SNVindel,exonic,TSHZ3,NA,synonymous SNV,TSHZ3:NM_020856:exon2:c.C1047T:p.N349N,NA,NA,NA,NA,NA,NA
chr19,38896268,38896268,G,A,P364157_F,FAM98C,Missense_Mutation,NM_001351675,exon5,c.G665A,p.R222Q,SNP,SNVindel,exonic,FAM98C,NA,nonsynonymous SNV,"FAM98C:NM_001351675:exon5:c.G665A:p.R222Q,FAM98C:NM_174905:exon6:c.G743A:p.R248Q",D,N,D,T,D,T
chr19,41800296,41800296,A,G,P364157_F,HNRNPUL1,Silent,NM_001301016,exon9,c.A1053G,p.K351K,SNP,SNVindel,exonic,HNRNPUL1,NA,synonymous SNV,"HNRNPUL1:NM_001301016:exon9:c.A1053G:p.K351K,HNRNPUL1:NM_001321208:exon9:c.A1020G:p.K340K,HNRNPUL1:NM_001321211:exon9:c.A1020G:p.K340K,HNRNPUL1:NM_007040:exon9:c.A1320G:p.K440K,HNRNPUL1:NM_144732:exon9:c.A1020G:p.K340K",NA,NA,NA,NA,NA,NA
chr19,54848157,54848157,A,G,P364157_F,LILRA4,Missense_Mutation,NM_012276,exon6,c.T1210C,p.Y404H,SNP,SNVindel,exonic,LILRA4,NA,nonsynonymous SNV,LILRA4:NM_012276:exon6:c.T1210C:p.Y404H,T,N,N,T,D,T
chr19,57867793,57867793,C,T,P364157_F,ZNF304,Nonsense_Mutation,NM_020657,exon3,c.C556T,p.Q186X,SNP,SNVindel,exonic,ZNF304,NA,stopgain,"ZNF304:NM_020657:exon3:c.C556T:p.Q186X,ZNF304:NM_001290318:exon4:c.C697T:p.Q233X,ZNF304:NM_001290319:exon4:c.C430T:p.Q144X,ZNF304:NM_001329456:exon4:c.C280T:p.Q94X",.,.,D,.,.,.
chr20,37202902,37202902,C,A,P364157_F,RALGAPB,Missense_Mutation,NM_001282917,exon29,c.C4252A,p.P1418T,SNP,SNVindel,exonic,RALGAPB,NA,nonsynonymous SNV,"RALGAPB:NM_001282917:exon29:c.C4252A:p.P1418T,RALGAPB:NM_001282918:exon29:c.C4243A:p.P1415T,RALGAPB:NM_020336:exon29:c.C4252A:p.P1418T",D,D,D,D,D,D
chr22,26157081,26157081,G,A,P364157_F,MYO18B,Missense_Mutation,NM_001318245,exon2,c.G22A,p.A8T,SNP,SNVindel,exonic,MYO18B,NA,nonsynonymous SNV,"MYO18B:NM_001318245:exon2:c.G22A:p.A8T,MYO18B:NM_032608:exon2:c.G22A:p.A8T",D,N,D,D,N,D
chrX,48823377,48823377,G,A,P364157_F,KCND1,Missense_Mutation,NM_004979,exon2,c.C1258T,p.R420W,SNP,SNVindel,exonic,KCND1,NA,nonsynonymous SNV,KCND1:NM_004979:exon2:c.C1258T:p.R420W,D,D,D,T,D,D
chrX,70375167,70375167,T,C,P364157_F,NLGN3,Silent,NM_001166660,exon3,c.T561C,p.Y187Y,SNP,SNVindel,exonic,NLGN3,NA,synonymous SNV,"NLGN3:NM_001166660:exon3:c.T561C:p.Y187Y,NLGN3:NM_001321276:exon4:c.T270C:p.Y90Y,NLGN3:NM_018977:exon4:c.T621C:p.Y207Y,NLGN3:NM_181303:exon5:c.T681C:p.Y227Y",NA,NA,NA,NA,NA,NA
chrX,117033270,117033270,A,C,P364157_F,KLHL13,Silent,NM_001168300,exon7,c.T1551G,p.T517T,SNP,SNVindel,exonic,KLHL13,NA,synonymous SNV,"KLHL13:NM_001168300:exon7:c.T1551G:p.T517T,KLHL13:NM_001168303:exon7:c.T1443G:p.T481T,KLHL13:NM_033495:exon7:c.T1569G:p.T523T,KLHL13:NM_001168299:exon8:c.T1578G:p.T526T,KLHL13:NM_001168301:exon8:c.T1521G:p.T507T,KLHL13:NM_001168302:exon8:c.T1521G:p.T507T",NA,NA,NA,NA,NA,NA
chrX,119760638,119760638,G,A,P364157_F,C1GALT1C1,Silent,NM_001011551,exon2,c.C384T,p.Y128Y,SNP,SNVindel,exonic,C1GALT1C1,NA,synonymous SNV,"C1GALT1C1:NM_001011551:exon2:c.C384T:p.Y128Y,C1GALT1C1:NM_152692:exon3:c.C384T:p.Y128Y",NA,NA,NA,NA,NA,NA
chrX,123779057,123779057,G,A,P364157_F,TENM1,Silent,NM_001163278,exon10,c.C1812T,p.H604H,SNP,SNVindel,exonic,TENM1,NA,synonymous SNV,"TENM1:NM_001163278:exon10:c.C1812T:p.H604H,TENM1:NM_001163279:exon10:c.C1809T:p.H603H,TENM1:NM_014253:exon10:c.C1812T:p.H604H",NA,NA,NA,NA,NA,NA
chrX,140270952,140270952,G,A,P364157_F,LDOC1,Silent,NM_012317,exon1,c.C255T,p.D85D,SNP,SNVindel,exonic,LDOC1,NA,synonymous SNV,LDOC1:NM_012317:exon1:c.C255T:p.D85D,NA,NA,NA,NA,NA,NA
chrX,148582491,148582491,C,T,P364157_F,IDS,Missense_Mutation,NM_000202,exon4,c.G496A,p.E166K,SNP,SNVindel,exonic,IDS,NA,nonsynonymous SNV,"IDS:NM_000202:exon4:c.G496A:p.E166K,IDS:NM_001166550:exon4:c.G226A:p.E76K,IDS:NM_006123:exon4:c.G496A:p.E166K",T,D,D,D,N,D
chr1,957628,957628,G,A,P364157_S,AGRN,Silent,NM_198576,exon2,c.G249A,p.E83E,SNP,SNVindel,exonic,AGRN,NA,synonymous SNV,AGRN:NM_198576:exon2:c.G249A:p.E83E,NA,NA,NA,NA,NA,NA
chr1,3697694,3697694,G,A,P364157_S,LRRC47,Silent,NM_020710,exon7,c.C1710T,p.A570A,SNP,SNVindel,exonic,LRRC47,NA,synonymous SNV,LRRC47:NM_020710:exon7:c.C1710T:p.A570A,NA,NA,NA,NA,NA,NA
chr1,15767063,15767063,C,T,P364157_S,CTRC,Silent,NM_007272,exon3,c.C207T,p.V69V,SNP,SNVindel,exonic,CTRC,NA,synonymous SNV,CTRC:NM_007272:exon3:c.C207T:p.V69V,NA,NA,NA,NA,NA,NA
chr1,22919889,22919889,G,A,P364157_S,EPHA8,Silent,NM_020526,exon6,c.G1386A,p.E462E,SNP,SNVindel,exonic,EPHA8,NA,synonymous SNV,EPHA8:NM_020526:exon6:c.G1386A:p.E462E,NA,NA,NA,NA,NA,NA
chr1,32674889,32674889,C,T,P364157_S,DCDC2B,Silent,NM_001099434,exon1,c.C195T,p.V65V,SNP,SNVindel,exonic,DCDC2B,NA,synonymous SNV,DCDC2B:NM_001099434:exon1:c.C195T:p.V65V,NA,NA,NA,NA,NA,NA
chr1,55138808,55138808,A,T,P364157_S,MROH7,Missense_Mutation,NM_001291332,exon6,c.A198T,p.K66N,SNP,SNVindel,exonic,MROH7,NA,nonsynonymous SNV,"MROH7:NM_001291332:exon6:c.A198T:p.K66N,MROH7:NM_001039464:exon8:c.A1644T:p.K548N",T,N,N,T,N,T
chr1,68897015,68897015,G,A,P364157_S,RPE65,Missense_Mutation,NM_000329,exon12,c.C1288T,p.P430S,SNP,SNVindel,exonic,RPE65,NA,nonsynonymous SNV,RPE65:NM_000329:exon12:c.C1288T:p.P430S,T,N,D,D,N,D
chr1,100380948,100380948,C,T,P364157_S,AGL,Missense_Mutation,NM_000028,exon31,c.C4165T,p.P1389S,SNP,SNVindel,exonic,AGL,NA,nonsynonymous SNV,"AGL:NM_000028:exon31:c.C4165T:p.P1389S,AGL:NM_000642:exon31:c.C4165T:p.P1389S,AGL:NM_000643:exon31:c.C4165T:p.P1389S,AGL:NM_000644:exon31:c.C4165T:p.P1389S,AGL:NM_000646:exon31:c.C4117T:p.P1373S",D,D,D,T,D,D
chr1,109391402,109391402,G,T,P364157_S,AKNAD1,Missense_Mutation,NM_152763,exon5,c.C1217A,p.S406Y,SNP,SNVindel,exonic,AKNAD1,NA,nonsynonymous SNV,AKNAD1:NM_152763:exon5:c.C1217A:p.S406Y,D,N,N,T,D,T
chr1,113254662,113254662,C,A,P364157_S,PPM1J,Silent,NM_005167,exon5,c.G858T,p.R286R,SNP,SNVindel,exonic,PPM1J,NA,synonymous SNV,PPM1J:NM_005167:exon5:c.G858T:p.R286R,NA,NA,NA,NA,NA,NA
chr1,114499286,114499286,T,G,P364157_S,HIPK1,Missense_Mutation,NM_181358,exon4,c.T263G,p.L88W,SNP,SNVindel,exonic,HIPK1,NA,nonsynonymous SNV,"HIPK1:NM_181358:exon4:c.T263G:p.L88W,HIPK1:NM_198269:exon5:c.T323G:p.L108W,HIPK1:NM_001369806:exon6:c.T1445G:p.L482W,HIPK1:NM_001369807:exon6:c.T1445G:p.L482W,HIPK1:NM_152696:exon6:c.T1445G:p.L482W,HIPK1:NM_198268:exon6:c.T1445G:p.L482W",D,D,D,T,D,T
chr1,145323656,145323656,A,T,P364157_S,NBPF10,Missense_Mutation,NM_001039703,exon29,c.A3718T,p.I1240F,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon29:c.A3718T:p.I1240F,NBPF10:NM_001302371:exon29:c.A3718T:p.I1240F",.,.,N,.,.,T
chr1,150443697,150443697,G,A,P364157_S,RPRD2,Missense_Mutation,NM_001297673,exon10,c.G2195A,p.S732N,SNP,SNVindel,exonic,RPRD2,NA,nonsynonymous SNV,"RPRD2:NM_001297673:exon10:c.G2195A:p.S732N,RPRD2:NM_001297674:exon10:c.G2195A:p.S732N,RPRD2:NM_015203:exon11:c.G2273A:p.S758N",D,D,D,T,N,T
chr1,152278795,152278795,G,A,P364157_S,FLG,Missense_Mutation,NM_002016,exon3,c.C8567T,p.S2856L,SNP,SNVindel,exonic,FLG,NA,nonsynonymous SNV,FLG:NM_002016:exon3:c.C8567T:p.S2856L,D,.,N,T,N,T
chr1,153907375,153907375,C,T,P364157_S,DENND4B,Silent,NM_001367466,exon18,c.G2667A,p.R889R,SNP,SNVindel,exonic,DENND4B,NA,synonymous SNV,"DENND4B:NM_001367466:exon18:c.G2667A:p.R889R,DENND4B:NM_014856:exon18:c.G2634A:p.R878R",NA,NA,NA,NA,NA,NA
chr1,157512702,157512702,G,A,P364157_S,FCRL5,Missense_Mutation,NM_001195388,exon6,c.C1070T,p.A357V,SNP,SNVindel,exonic,FCRL5,NA,nonsynonymous SNV,"FCRL5:NM_001195388:exon6:c.C1070T:p.A357V,FCRL5:NM_031281:exon6:c.C1070T:p.A357V",D,.,D,T,N,T
chr1,173010571,173010571,T,G,P364157_S,TNFSF18,Missense_Mutation,NM_005092,exon3,c.A536C,p.Q179P,SNP,SNVindel,exonic,TNFSF18,NA,nonsynonymous SNV,TNFSF18:NM_005092:exon3:c.A536C:p.Q179P,D,N,N,D,D,D
chr1,176564065,176564065,C,G,P364157_S,PAPPA2,Missense_Mutation,NM_020318,exon3,c.C1325G,p.S442C,SNP,SNVindel,exonic,PAPPA2,NA,nonsynonymous SNV,"PAPPA2:NM_020318:exon3:c.C1325G:p.S442C,PAPPA2:NM_021936:exon3:c.C1325G:p.S442C",T,N,N,T,N,T
chr1,204101336,204101336,C,T,P364157_S,ETNK2,Silent,NM_001297761,exon7,c.G603A,p.A201A,SNP,SNVindel,exonic,ETNK2,NA,synonymous SNV,"ETNK2:NM_001297761:exon7:c.G603A:p.A201A,ETNK2:NM_001297762:exon7:c.G1014A:p.A338A,ETNK2:NM_018208:exon8:c.G1137A:p.A379A",NA,NA,NA,NA,NA,NA
chr1,207640221,207640221,A,T,P364157_S,CR2,Missense_Mutation,NM_001006658,exon2,c.A409T,p.M137L,SNP,SNVindel,exonic,CR2,NA,nonsynonymous SNV,"CR2:NM_001006658:exon2:c.A409T:p.M137L,CR2:NM_001877:exon2:c.A409T:p.M137L",T,.,N,T,N,T
chr1,226736613,226736613,C,T,P364157_S,STUM,Missense_Mutation,NM_001003665,exon1,c.C8T,p.P3L,SNP,SNVindel,exonic,STUM,NA,nonsynonymous SNV,STUM:NM_001003665:exon1:c.C8T:p.P3L,D,.,D,.,N,T
chr1,240070843,240070843,C,T,P364157_S,CHRM3,Missense_Mutation,NM_000740,exon5,c.C92T,p.P31L,SNP,SNVindel,exonic,CHRM3,NA,nonsynonymous SNV,"CHRM3:NM_000740:exon5:c.C92T:p.P31L,CHRM3:NM_001347716:exon8:c.C92T:p.P31L",T,N,D,T,N,T
chr2,17846801,17846801,G,A,P364157_S,SMC6,Missense_Mutation,NM_024624,exon27,c.C3241T,p.P1081S,SNP,SNVindel,exonic,SMC6,NA,nonsynonymous SNV,"SMC6:NM_024624:exon27:c.C3241T:p.P1081S,SMC6:NM_001142286:exon28:c.C3241T:p.P1081S",T,N,D,T,N,T
chr2,43458321,43458321,T,C,P364157_S,THADA,Silent,NM_001083953,exon38,c.A5628G,p.S1876S,SNP,SNVindel,exonic,THADA,NA,synonymous SNV,"THADA:NM_001083953:exon38:c.A5628G:p.S1876S,THADA:NM_001345923:exon38:c.A5625G:p.S1875S,THADA:NM_001345924:exon38:c.A5505G:p.S1835S,THADA:NM_022065:exon38:c.A5628G:p.S1876S,THADA:NM_001345925:exon39:c.A5628G:p.S1876S",NA,NA,NA,NA,NA,NA
chr2,44016838,44016838,C,T,P364157_S,DYNC2LI1,Missense_Mutation,NM_001193464,exon5,c.C298T,p.P100S,SNP,SNVindel,exonic,DYNC2LI1,NA,nonsynonymous SNV,"DYNC2LI1:NM_001193464:exon5:c.C298T:p.P100S,DYNC2LI1:NM_001348912:exon5:c.C298T:p.P100S,DYNC2LI1:NM_001348913:exon5:c.C298T:p.P100S,DYNC2LI1:NM_015522:exon5:c.C298T:p.P100S,DYNC2LI1:NM_016008:exon5:c.C298T:p.P100S",T,D,D,T,D,T
chr2,70455589,70455589,C,G,P364157_S,TIA1,Missense_Mutation,NM_001351520,exon6,c.G322C,p.V108L,SNP,SNVindel,exonic,TIA1,NA,nonsynonymous SNV,TIA1:NM_001351520:exon6:c.G322C:p.V108L,NA,NA,NA,NA,NA,NA
chr2,96689719,96689719,C,T,P364157_S,GPAT2,Silent,NM_001321529,exon16,c.G1653A,p.Q551Q,SNP,SNVindel,exonic,GPAT2,NA,synonymous SNV,"GPAT2:NM_001321529:exon16:c.G1653A:p.Q551Q,GPAT2:NM_001321530:exon16:c.G1635A:p.Q545Q,GPAT2:NM_001321525:exon17:c.G1866A:p.Q622Q,GPAT2:NM_001321526:exon17:c.G1866A:p.Q622Q,GPAT2:NM_001321527:exon17:c.G1866A:p.Q622Q,GPAT2:NM_001321528:exon17:c.G1866A:p.Q622Q,GPAT2:NM_207328:exon17:c.G1848A:p.Q616Q,GPAT2:NM_001321531:exon18:c.G1848A:p.Q616Q",NA,NA,NA,NA,NA,NA
chr2,101635477,101635477,G,A,P364157_S,RPL31,Missense_Mutation,NM_001098577,exon5,c.G364A,p.V122I,SNP,SNVindel,exonic,RPL31,NA,nonsynonymous SNV,RPL31:NM_001098577:exon5:c.G364A:p.V122I,T,.,N,.,N,T
chr2,112761505,112761505,G,A,P364157_S,MERTK,Missense_Mutation,NM_006343,exon13,c.G1811A,p.G604E,SNP,SNVindel,exonic,MERTK,NA,nonsynonymous SNV,MERTK:NM_006343:exon13:c.G1811A:p.G604E,D,U,D,D,D,D
chr2,128930217,128930217,G,A,P364157_S,UGGT1,Missense_Mutation,NM_020120,exon29,c.G3175A,p.A1059T,SNP,SNVindel,exonic,UGGT1,NA,nonsynonymous SNV,UGGT1:NM_020120:exon29:c.G3175A:p.A1059T,D,D,D,T,D,T
chr2,171071292,171071292,T,C,P364157_S,MYO3B,Silent,NM_001083615,exon5,c.T480C,p.N160N,SNP,SNVindel,exonic,MYO3B,NA,synonymous SNV,"MYO3B:NM_001083615:exon5:c.T480C:p.N160N,MYO3B:NM_138995:exon5:c.T480C:p.N160N",NA,NA,NA,NA,NA,NA
chr2,179441276,179441276,A,G,P364157_S,TTN,Missense_Mutation,NM_003319,exon153,c.T42500C,p.V14167A,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon153:c.T42500C:p.V14167A,TTN:NM_133432:exon154:c.T42875C:p.V14292A,TTN:NM_133437:exon154:c.T43076C:p.V14359A,TTN:NM_133378:exon274:c.T61991C:p.V20664A,TTN:NM_001256850:exon275:c.T64772C:p.V21591A,TTN:NM_001267550:exon325:c.T69695C:p.V23232A",D,.,D,T,D,T
chr2,215013945,215013945,G,A,P364157_S,SPAG16,Missense_Mutation,NM_024532,exon15,c.G1675A,p.D559N,SNP,SNVindel,exonic,SPAG16,NA,nonsynonymous SNV,SPAG16:NM_024532:exon15:c.G1675A:p.D559N,T,D,D,T,D,T
chr2,219131265,219131265,C,T,P364157_S,AAMP,Missense_Mutation,NM_001087,exon5,c.G580A,p.A194T,SNP,SNVindel,exonic,AAMP,NA,nonsynonymous SNV,"AAMP:NM_001087:exon5:c.G580A:p.A194T,AAMP:NM_001302545:exon5:c.G583A:p.A195T",T,D,D,T,N,T
chr3,9543925,9543925,G,A,P364157_S,LHFPL4,Silent,NM_198560,exon4,c.C714T,p.P238P,SNP,SNVindel,exonic,LHFPL4,NA,synonymous SNV,LHFPL4:NM_198560:exon4:c.C714T:p.P238P,NA,NA,NA,NA,NA,NA
chr3,43596957,43596957,G,A,P364157_S,ANO10,Missense_Mutation,NM_001204833,exon8,c.C1148T,p.T383I,SNP,SNVindel,exonic,ANO10,NA,nonsynonymous SNV,"ANO10:NM_001204833:exon8:c.C1148T:p.T383I,ANO10:NM_001204832:exon9:c.C1283T:p.T428I,ANO10:NM_001204834:exon9:c.C911T:p.T304I,ANO10:NM_001346466:exon9:c.C1283T:p.T428I,ANO10:NM_001346469:exon9:c.C1283T:p.T428I,ANO10:NM_001204831:exon10:c.C1481T:p.T494I,ANO10:NM_001346463:exon10:c.C1481T:p.T494I,ANO10:NM_001346464:exon10:c.C1481T:p.T494I,ANO10:NM_001346465:exon10:c.C1481T:p.T494I,ANO10:NM_001346467:exon10:c.C1481T:p.T494I,ANO10:NM_001346468:exon10:c.C1481T:p.T494I,ANO10:NM_018075:exon10:c.C1481T:p.T494I",D,D,D,T,D,T
chr3,74334504,74334504,C,T,P364157_S,CNTN3,Missense_Mutation,NM_020872,exon19,c.G2656A,p.G886S,SNP,SNVindel,exonic,CNTN3,NA,nonsynonymous SNV,CNTN3:NM_020872:exon19:c.G2656A:p.G886S,D,D,D,T,D,D
chr3,121712754,121712754,A,G,P364157_S,ILDR1,Missense_Mutation,NM_001199800,exon5,c.T575C,p.I192T,SNP,SNVindel,exonic,ILDR1,NA,nonsynonymous SNV,"ILDR1:NM_001199800:exon5:c.T575C:p.I192T,ILDR1:NM_175924:exon6:c.T710C:p.I237T,ILDR1:NM_001199799:exon7:c.T842C:p.I281T",T,N,N,T,N,T
chr3,133119314,133119314,T,C,P364157_S,BFSP2,Silent,NM_003571,exon1,c.T387C,p.S129S,SNP,SNVindel,exonic,BFSP2,NA,synonymous SNV,BFSP2:NM_003571:exon1:c.T387C:p.S129S,NA,NA,NA,NA,NA,NA
chr3,142567280,142567280,C,T,P364157_S,PCOLCE2,Missense_Mutation,NM_013363,exon3,c.G227A,p.R76Q,SNP,SNVindel,exonic,PCOLCE2,NA,nonsynonymous SNV,PCOLCE2:NM_013363:exon3:c.G227A:p.R76Q,T,D,D,T,D,T
chr3,165547934,165547934,A,G,P364157_S,BCHE,Silent,NM_000055,exon2,c.T888C,p.D296D,SNP,SNVindel,exonic,BCHE,NA,synonymous SNV,BCHE:NM_000055:exon2:c.T888C:p.D296D,NA,NA,NA,NA,NA,NA
chr3,172224664,172224664,T,C,P364157_S,TNFSF10,Missense_Mutation,NM_003810,exon5,c.A464G,p.E155G,SNP,SNVindel,exonic,TNFSF10,NA,nonsynonymous SNV,TNFSF10:NM_003810:exon5:c.A464G:p.E155G,D,D,D,D,D,D
chr3,182587040,182587040,G,A,P364157_S,ATP11B,Missense_Mutation,NM_014616,exon17,c.G1787A,p.G596E,SNP,SNVindel,exonic,ATP11B,NA,nonsynonymous SNV,ATP11B:NM_014616:exon17:c.G1787A:p.G596E,D,D,D,D,D,D
chr4,3254971,3254971,C,T,P364157_S,MSANTD1,Missense_Mutation,NM_001042690,exon2,c.C358T,p.P120S,SNP,SNVindel,exonic,MSANTD1,NA,nonsynonymous SNV,"MSANTD1:NM_001042690:exon2:c.C358T:p.P120S,MSANTD1:NM_001330620:exon5:c.C319T:p.P107S",T,D,D,.,N,T
chr4,26432056,26432056,G,C,P364157_S,RBPJ,Missense_Mutation,NM_001363577,exon10,c.G994C,p.D332H,SNP,SNVindel,exonic,RBPJ,NA,nonsynonymous SNV,"RBPJ:NM_001363577:exon10:c.G994C:p.D332H,RBPJ:NM_015874:exon10:c.G1060C:p.D354H,RBPJ:NM_203283:exon10:c.G1054C:p.D352H,RBPJ:NM_005349:exon11:c.G1099C:p.D367H,RBPJ:NM_203284:exon11:c.G1057C:p.D353H",T,D,D,T,D,T
chr4,38829687,38829687,C,T,P364157_S,TLR6,Missense_Mutation,NM_006068,exon2,c.G1408A,p.V470I,SNP,SNVindel,exonic,TLR6,NA,nonsynonymous SNV,TLR6:NM_006068:exon2:c.G1408A:p.V470I,T,N,N,T,N,T
chr4,69973954,69973954,C,A,P364157_S,UGT2B7,Silent,NM_001074,exon5,c.C1224A,p.A408A,SNP,SNVindel,exonic,UGT2B7,NA,synonymous SNV,"UGT2B7:NM_001074:exon5:c.C1224A:p.A408A,UGT2B7:NM_001349568:exon6:c.C477A:p.A159A",NA,NA,NA,NA,NA,NA
chr4,79399019,79399019,C,T,P364157_S,FRAS1,Silent,NM_025074,exon55,c.C7902T,p.N2634N,SNP,SNVindel,exonic,FRAS1,NA,synonymous SNV,FRAS1:NM_025074:exon55:c.C7902T:p.N2634N,NA,NA,NA,NA,NA,NA
chr4,83406727,83406727,C,T,P364157_S,TMEM150C,Silent,NM_001080506,exon8,c.G687A,p.E229E,SNP,SNVindel,exonic,TMEM150C,NA,synonymous SNV,"TMEM150C:NM_001080506:exon8:c.G687A:p.E229E,TMEM150C:NM_001353454:exon8:c.G777A:p.E259E,TMEM150C:NM_001353455:exon8:c.G480A:p.E160E",NA,NA,NA,NA,NA,NA
chr4,115544303,115544303,G,A,P364157_S,UGT8,Silent,NM_003360,exon1,c.G267A,p.K89K,SNP,SNVindel,exonic,UGT8,NA,synonymous SNV,"UGT8:NM_003360:exon1:c.G267A:p.K89K,UGT8:NM_001128174:exon2:c.G267A:p.K89K,UGT8:NM_001322113:exon2:c.G267A:p.K89K,UGT8:NM_001322114:exon2:c.G267A:p.K89K,UGT8:NM_001322112:exon3:c.G267A:p.K89K",NA,NA,NA,NA,NA,NA
chr4,151231401,151231401,C,T,P364157_S,LRBA,Missense_Mutation,NM_001199282,exon52,c.G7829A,p.R2610K,SNP,SNVindel,exonic,LRBA,NA,nonsynonymous SNV,"LRBA:NM_001199282:exon52:c.G7829A:p.R2610K,LRBA:NM_001364905:exon52:c.G7829A:p.R2610K,LRBA:NM_001367550:exon52:c.G7844A:p.R2615K,LRBA:NM_006726:exon53:c.G7862A:p.R2621K",T,N,D,T,N,T
chr5,14485302,14485302,C,T,P364157_S,TRIO,Missense_Mutation,NM_007118,exon47,c.C6782T,p.T2261I,SNP,SNVindel,exonic,TRIO,NA,nonsynonymous SNV,TRIO:NM_007118:exon47:c.C6782T:p.T2261I,T,N,N,T,N,T
chr5,41850278,41850278,T,C,P364157_S,OXCT1,Missense_Mutation,NM_000436,exon5,c.A418G,p.T140A,SNP,SNVindel,exonic,OXCT1,NA,nonsynonymous SNV,"OXCT1:NM_000436:exon5:c.A418G:p.T140A,OXCT1:NM_001364300:exon5:c.A439G:p.T147A,OXCT1:NM_001364301:exon5:c.A418G:p.T140A,OXCT1:NM_001364302:exon5:c.A418G:p.T140A,OXCT1:NM_001364299:exon6:c.A439G:p.T147A",D,D,D,D,D,D
chr5,44388668,44388668,G,T,P364157_S,FGF10,Silent,NM_004465,exon1,c.C117A,p.A39A,SNP,SNVindel,exonic,FGF10,NA,synonymous SNV,FGF10:NM_004465:exon1:c.C117A:p.A39A,NA,NA,NA,NA,NA,NA
chr5,55195960,55195960,T,G,P364157_S,IL31RA,Missense_Mutation,NM_001242636,exon8,c.T1012G,p.S338A,SNP,SNVindel,exonic,IL31RA,NA,nonsynonymous SNV,"IL31RA:NM_001242636:exon8:c.T1012G:p.S338A,IL31RA:NM_001242637:exon8:c.T1069G:p.S357A,IL31RA:NM_001297570:exon8:c.T1069G:p.S357A,IL31RA:NM_001297572:exon8:c.T643G:p.S215A,IL31RA:NM_139017:exon8:c.T1069G:p.S357A,IL31RA:NM_001242639:exon9:c.T643G:p.S215A,IL31RA:NM_001242638:exon10:c.T1012G:p.S338A",T,N,N,T,N,T
chr5,68715441,68715441,C,T,P364157_S,MARVELD2,Missense_Mutation,NM_001038603,exon2,c.C229T,p.P77S,SNP,SNVindel,exonic,MARVELD2,NA,nonsynonymous SNV,"MARVELD2:NM_001038603:exon2:c.C229T:p.P77S,MARVELD2:NM_001244734:exon2:c.C229T:p.P77S",D,D,D,T,D,D
chr5,89979480,89979480,C,T,P364157_S,ADGRV1,Silent,NM_032119,exon28,c.C5742T,p.A1914A,SNP,SNVindel,exonic,ADGRV1,NA,synonymous SNV,ADGRV1:NM_032119:exon28:c.C5742T:p.A1914A,NA,NA,NA,NA,NA,NA
chr5,140481574,140481574,C,T,P364157_S,PCDHB3,Silent,NM_018937,exon1,c.C1341T,p.N447N,SNP,SNVindel,exonic,PCDHB3,NA,synonymous SNV,PCDHB3:NM_018937:exon1:c.C1341T:p.N447N,NA,NA,NA,NA,NA,NA
chr5,140745533,140745533,G,A,P364157_S,PCDHGA5,Missense_Mutation,NM_018918,exon1,c.G1636A,p.V546M,SNP,SNVindel,exonic,PCDHGA5,NA,nonsynonymous SNV,"PCDHGA5:NM_018918:exon1:c.G1636A:p.V546M,PCDHGA5:NM_032054:exon1:c.G1636A:p.V546M",D,.,D,T,N,T
chr5,149441393,149441393,C,T,P364157_S,CSF1R,Missense_Mutation,NM_001288705,exon11,c.G1646A,p.R549H,SNP,SNVindel,exonic,CSF1R,NA,nonsynonymous SNV,"CSF1R:NM_001288705:exon11:c.G1646A:p.R549H,CSF1R:NM_005211:exon12:c.G1646A:p.R549H,CSF1R:NM_001349736:exon13:c.G1646A:p.R549H",D,D,D,D,N,D
chr5,167474496,167474496,G,A,P364157_S,TENM2,Silent,NM_001368145,exon5,c.G795A,p.G265G,SNP,SNVindel,exonic,TENM2,NA,synonymous SNV,"TENM2:NM_001368145:exon5:c.G795A:p.G265G,TENM2:NM_001368146:exon5:c.G795A:p.G265G,TENM2:NM_001122679:exon7:c.G1251A:p.G417G",NA,NA,NA,NA,NA,NA
chr5,179251282,179251282,C,T,P364157_S,SQSTM1,Missense_Mutation,NM_003900,exon4,c.C632T,p.P211L,SNP,SNVindel,exonic,SQSTM1,NA,nonsynonymous SNV,"SQSTM1:NM_003900:exon4:c.C632T:p.P211L,SQSTM1:NM_001142298:exon5:c.C380T:p.P127L,SQSTM1:NM_001142299:exon5:c.C380T:p.P127L",T,N,D,T,D,T
chr6,1313158,1313158,C,T,P364157_S,FOXQ1,Silent,NM_033260,exon1,c.C219T,p.G73G,SNP,SNVindel,exonic,FOXQ1,NA,synonymous SNV,FOXQ1:NM_033260:exon1:c.C219T:p.G73G,NA,NA,NA,NA,NA,NA
chr6,150713602,150713602,G,A,P364157_S,IYD,Silent,NM_001164694,exon3,c.G492A,p.R164R,SNP,SNVindel,exonic,IYD,NA,synonymous SNV,"IYD:NM_001164694:exon3:c.G492A:p.R164R,IYD:NM_001164695:exon3:c.G492A:p.R164R,IYD:NM_001318495:exon3:c.G246A:p.R82R,IYD:NM_203395:exon3:c.G492A:p.R164R",NA,NA,NA,NA,NA,NA
chr7,16650276,16650276,T,C,P364157_S,ANKMY2,Missense_Mutation,NM_020319,exon6,c.A644G,p.N215S,SNP,SNVindel,exonic,ANKMY2,NA,nonsynonymous SNV,ANKMY2:NM_020319:exon6:c.A644G:p.N215S,D,D,D,D,D,D
chr7,43484795,43484795,C,T,P364157_S,HECW1,Missense_Mutation,NM_001287059,exon10,c.C2024T,p.A675V,SNP,SNVindel,exonic,HECW1,NA,nonsynonymous SNV,"HECW1:NM_001287059:exon10:c.C2024T:p.A675V,HECW1:NM_015052:exon11:c.C2024T:p.A675V",T,U,N,T,N,T
chr7,44573062,44573062,C,T,P364157_S,NPC1L1,Missense_Mutation,NM_001101648,exon8,c.G2377A,p.A793T,SNP,SNVindel,exonic,NPC1L1,NA,nonsynonymous SNV,"NPC1L1:NM_001101648:exon8:c.G2377A:p.A793T,NPC1L1:NM_013389:exon8:c.G2377A:p.A793T",D,D,D,D,N,D
chr7,63726847,63726847,G,A,P364157_S,ZNF679,Missense_Mutation,NM_153363,exon5,c.G836A,p.R279H,SNP,SNVindel,exonic,ZNF679,NA,nonsynonymous SNV,ZNF679:NM_153363:exon5:c.G836A:p.R279H,T,.,N,T,D,T
chr7,103141230,103141230,A,G,P364157_S,RELN,Missense_Mutation,NM_005045,exon53,c.T8629C,p.Y2877H,SNP,SNVindel,exonic,RELN,NA,nonsynonymous SNV,"RELN:NM_005045:exon53:c.T8629C:p.Y2877H,RELN:NM_173054:exon53:c.T8629C:p.Y2877H",D,D,D,T,N,T
chr7,107350631,107350631,C,G,P364157_S,SLC26A4,Missense_Mutation,NM_000441,exon19,c.C2222G,p.S741C,SNP,SNVindel,exonic,SLC26A4,NA,nonsynonymous SNV,SLC26A4:NM_000441:exon19:c.C2222G:p.S741C,D,D,D,D,N,D
chr7,127017259,127017259,T,C,P364157_S,ZNF800,Silent,NM_176814,exon4,c.A282G,p.P94P,SNP,SNVindel,exonic,ZNF800,NA,synonymous SNV,ZNF800:NM_176814:exon4:c.A282G:p.P94P,NA,NA,NA,NA,NA,NA
chr7,128481296,128481296,G,A,P364157_S,FLNC,Missense_Mutation,NM_001127487,exon12,c.G1886A,p.R629Q,SNP,SNVindel,exonic,FLNC,NA,nonsynonymous SNV,"FLNC:NM_001127487:exon12:c.G1886A:p.R629Q,FLNC:NM_001458:exon12:c.G1886A:p.R629Q",D,N,D,D,N,D
chr7,143095078,143095078,C,T,P364157_S,EPHA1,Missense_Mutation,NM_005232,exon8,c.G1550A,p.R517Q,SNP,SNVindel,exonic,EPHA1,NA,nonsynonymous SNV,EPHA1:NM_005232:exon8:c.G1550A:p.R517Q,T,D,D,T,N,T
chr8,22398285,22398285,G,A,P364157_S,PPP3CC,Silent,NM_001243975,exon13,c.G1479A,p.R493R,SNP,SNVindel,exonic,PPP3CC,NA,synonymous SNV,"PPP3CC:NM_001243975:exon13:c.G1479A:p.R493R,PPP3CC:NM_005605:exon14:c.G1509A:p.R503R,PPP3CC:NM_001243974:exon15:c.G1536A:p.R512R",NA,NA,NA,NA,NA,NA
chr8,37553555,37553555,A,G,P364157_S,ZNF703,Missense_Mutation,NM_025069,exon1,c.A58G,p.S20G,SNP,SNVindel,exonic,ZNF703,NA,nonsynonymous SNV,ZNF703:NM_025069:exon1:c.A58G:p.S20G,T,U,N,T,N,T
chr8,71068869,71068869,C,T,P364157_S,NCOA2,Missense_Mutation,NM_001321713,exon10,c.G1269A,p.M423I,SNP,SNVindel,exonic,NCOA2,NA,nonsynonymous SNV,"NCOA2:NM_001321713:exon10:c.G1269A:p.M423I,NCOA2:NM_001321703:exon11:c.G1731A:p.M577I,NCOA2:NM_001321707:exon11:c.G1731A:p.M577I,NCOA2:NM_001321711:exon11:c.G1731A:p.M577I,NCOA2:NM_001321712:exon11:c.G1731A:p.M577I,NCOA2:NM_006540:exon11:c.G1731A:p.M577I",T,N,D,T,N,T
chr8,87060857,87060857,T,C,P364157_S,PSKH2,Missense_Mutation,NM_033126,exon3,c.A992G,p.N331S,SNP,SNVindel,exonic,PSKH2,NA,nonsynonymous SNV,PSKH2:NM_033126:exon3:c.A992G:p.N331S,D,.,N,T,D,T
chr8,87563411,87563411,G,A,P364157_S,CPNE3,Missense_Mutation,NM_003909,exon14,c.G1069A,p.V357I,SNP,SNVindel,exonic,CPNE3,NA,nonsynonymous SNV,CPNE3:NM_003909:exon14:c.G1069A:p.V357I,T,D,D,T,N,T
chr8,113259249,113259249,G,A,P364157_S,CSMD3,Missense_Mutation,NM_001363185,exon60,c.C9622T,p.P3208S,SNP,SNVindel,exonic,CSMD3,NA,nonsynonymous SNV,"CSMD3:NM_001363185:exon60:c.C9622T:p.P3208S,CSMD3:NM_052900:exon62:c.C9715T:p.P3239S,CSMD3:NM_198123:exon64:c.C10222T:p.P3408S,CSMD3:NM_198124:exon65:c.C10102T:p.P3368S",D,N,D,T,D,T
chr8,142161737,142161737,C,T,P364157_S,DENND3,Missense_Mutation,NM_001352890,exon7,c.C875T,p.T292M,SNP,SNVindel,exonic,DENND3,NA,nonsynonymous SNV,"DENND3:NM_001352890:exon7:c.C875T:p.T292M,DENND3:NM_001362798:exon7:c.C875T:p.T292M,DENND3:NM_014957:exon7:c.C674T:p.T225M",T,D,N,T,N,T
chr9,43627263,43627263,C,T,P364157_S,SPATA31A6,Missense_Mutation,NM_001145196,exon4,c.G1424A,p.R475H,SNP,SNVindel,exonic,SPATA31A6,NA,nonsynonymous SNV,SPATA31A6:NM_001145196:exon4:c.G1424A:p.R475H,.,.,.,.,.,.
chr9,72091052,72091052,G,T,P364157_S,APBA1,Missense_Mutation,NM_001163,exon3,c.C1208A,p.S403Y,SNP,SNVindel,exonic,APBA1,NA,nonsynonymous SNV,APBA1:NM_001163:exon3:c.C1208A:p.S403Y,T,N,D,T,N,T
chr9,77436630,77436630,G,A,P364157_S,TRPM6,Missense_Mutation,NM_001177310,exon8,c.C950T,p.A317V,SNP,SNVindel,exonic,TRPM6,NA,nonsynonymous SNV,"TRPM6:NM_001177310:exon8:c.C950T:p.A317V,TRPM6:NM_001177311:exon8:c.C950T:p.A317V,TRPM6:NM_017662:exon8:c.C965T:p.A322V",T,D,D,T,D,T
chr9,82324583,82324583,C,A,P364157_S,TLE4,Missense_Mutation,NM_001351564,exon11,c.C1027A,p.P343T,SNP,SNVindel,exonic,TLE4,NA,nonsynonymous SNV,"TLE4:NM_001351564:exon11:c.C1027A:p.P343T,TLE4:NM_001282753:exon12:c.C1102A:p.P368T,TLE4:NM_001351562:exon12:c.C1081A:p.P361T,TLE4:NM_001351563:exon12:c.C1075A:p.P359T,TLE4:NM_001282749:exon13:c.C1234A:p.P412T,TLE4:NM_001351547:exon13:c.C1258A:p.P420T,TLE4:NM_001351550:exon13:c.C1249A:p.P417T,TLE4:NM_001351552:exon13:c.C1246A:p.P416T,TLE4:NM_001351556:exon13:c.C1240A:p.P414T,TLE4:NM_001351558:exon13:c.C1237A:p.P413T,TLE4:NM_001351560:exon13:c.C1231A:p.P411T,TLE4:NM_001351542:exon14:c.C1312A:p.P438T,TLE4:NM_001351543:exon14:c.C1306A:p.P436T,TLE4:NM_001351546:exon14:c.C1303A:p.P435T,TLE4:NM_007005:exon14:c.C1309A:p.P437T,TLE4:NM_001282748:exon15:c.C1405A:p.P469T,TLE4:NM_001282760:exon15:c.C946A:p.P316T,TLE4:NM_001351541:exon15:c.C1348A:p.P450T",T,D,D,T,N,T
chr9,96859794,96859794,A,G,P364157_S,PTPDC1,Missense_Mutation,NM_001253829,exon6,c.A946G,p.T316A,SNP,SNVindel,exonic,PTPDC1,NA,nonsynonymous SNV,"PTPDC1:NM_001253829:exon6:c.A946G:p.T316A,PTPDC1:NM_152422:exon6:c.A940G:p.T314A,PTPDC1:NM_001253830:exon7:c.A784G:p.T262A,PTPDC1:NM_177995:exon7:c.A784G:p.T262A",D,D,D,T,D,T
chr9,116999287,116999287,C,T,P364157_S,COL27A1,Silent,NM_032888,exon18,c.C2646T,p.P882P,SNP,SNVindel,exonic,COL27A1,NA,synonymous SNV,COL27A1:NM_032888:exon18:c.C2646T:p.P882P,NA,NA,NA,NA,NA,NA
chr9,127620338,127620338,C,T,P364157_S,RPL35,Silent,NM_007209,exon4,c.G231A,p.K77K,SNP,SNVindel,exonic,RPL35,NA,synonymous SNV,RPL35:NM_007209:exon4:c.G231A:p.K77K,NA,NA,NA,NA,NA,NA
chr9,134077077,134077077,C,T,P364157_S,NUP214,Silent,NM_001318325,exon5,c.C2043T,p.A681A,SNP,SNVindel,exonic,NUP214,NA,synonymous SNV,"NUP214:NM_001318325:exon5:c.C2043T:p.A681A,NUP214:NM_001318324:exon30:c.C5535T:p.A1845A,NUP214:NM_005085:exon30:c.C5565T:p.A1855A",NA,NA,NA,NA,NA,NA
chr9,135919159,135919159,G,A,P364157_S,GTF3C5,Missense_Mutation,NM_001122823,exon3,c.G418A,p.G140S,SNP,SNVindel,exonic,GTF3C5,NA,nonsynonymous SNV,"GTF3C5:NM_001122823:exon3:c.G418A:p.G140S,GTF3C5:NM_012087:exon3:c.G418A:p.G140S",T,D,D,T,N,T
chr10,5959634,5959634,C,T,P364157_S,FBH1,Missense_Mutation,NM_001258452,exon12,c.C1736T,p.T579I,SNP,SNVindel,exonic,FBH1,NA,nonsynonymous SNV,"FBH1:NM_001258452:exon12:c.C1736T:p.T579I,FBH1:NM_178150:exon12:c.C1958T:p.T653I,FBH1:NM_001258453:exon13:c.C1736T:p.T579I,FBH1:NM_032807:exon13:c.C2111T:p.T704I",D,D,D,D,D,D
chr10,21805480,21805480,T,C,P364157_S,SKIDA1,Silent,NM_207371,exon4,c.A1272G,p.E424E,SNP,SNVindel,exonic,SKIDA1,NA,synonymous SNV,SKIDA1:NM_207371:exon4:c.A1272G:p.E424E,NA,NA,NA,NA,NA,NA
chr10,27815781,27815781,T,C,P364157_S,RAB18,Missense_Mutation,NM_001256410,exon3,c.T149C,p.I50T,SNP,SNVindel,exonic,RAB18,NA,nonsynonymous SNV,"RAB18:NM_001256410:exon3:c.T149C:p.I50T,RAB18:NM_001256411:exon3:c.T149C:p.I50T,RAB18:NM_001256412:exon3:c.T149C:p.I50T,RAB18:NM_021252:exon3:c.T149C:p.I50T",D,.,D,D,D,D
chr10,90512478,90512478,C,A,P364157_S,LIPK,Missense_Mutation,NM_001080518,exon9,c.C1165A,p.L389I,SNP,SNVindel,exonic,LIPK,NA,nonsynonymous SNV,LIPK:NM_001080518:exon9:c.C1165A:p.L389I,T,N,N,T,N,T
chr10,95097624,95097624,C,T,P364157_S,MYOF,Missense_Mutation,NM_133337,exon39,c.G4346A,p.G1449E,SNP,SNVindel,exonic,MYOF,NA,nonsynonymous SNV,"MYOF:NM_133337:exon39:c.G4346A:p.G1449E,MYOF:NM_013451:exon40:c.G4385A:p.G1462E",D,D,D,D,D,D
chr10,118354341,118354341,G,A,P364157_S,PNLIPRP1,Missense_Mutation,NM_001303135,exon5,c.G430A,p.G144S,SNP,SNVindel,exonic,PNLIPRP1,NA,nonsynonymous SNV,"PNLIPRP1:NM_001303135:exon5:c.G430A:p.G144S,PNLIPRP1:NM_006229:exon5:c.G430A:p.G144S",D,D,D,D,D,D
chr10,121675262,121675262,G,A,P364157_S,SEC23IP,Missense_Mutation,NM_007190,exon8,c.G1405A,p.D469N,SNP,SNVindel,exonic,SEC23IP,NA,nonsynonymous SNV,SEC23IP:NM_007190:exon8:c.G1405A:p.D469N,T,N,D,T,N,T
chr10,123844165,123844165,A,C,P364157_S,TACC2,Missense_Mutation,NM_001291876,exon4,c.A2150C,p.E717A,SNP,SNVindel,exonic,TACC2,NA,nonsynonymous SNV,"TACC2:NM_001291876:exon4:c.A2150C:p.E717A,TACC2:NM_001291877:exon4:c.A2150C:p.E717A,TACC2:NM_206862:exon4:c.A2150C:p.E717A",D,N,N,T,N,T
chr11,2187938,2187938,G,A,P364157_S,TH,Missense_Mutation,NM_000360,exon8,c.C902T,p.A301V,SNP,SNVindel,exonic,TH,NA,nonsynonymous SNV,"TH:NM_000360:exon8:c.C902T:p.A301V,TH:NM_199292:exon9:c.C995T:p.A332V,TH:NM_199293:exon9:c.C983T:p.A328V",D,D,D,D,D,D
chr11,5410923,5410923,T,G,P364157_S,OR51M1,Missense_Mutation,NM_001004756,exon1,c.T295G,p.F99V,SNP,SNVindel,exonic,OR51M1,NA,nonsynonymous SNV,OR51M1:NM_001004756:exon1:c.T295G:p.F99V,T,U,N,T,D,T
chr11,5686780,5686780,T,C,P364157_S,TRIM5,Missense_Mutation,NM_033092,exon7,c.A1001G,p.Y334C,SNP,SNVindel,exonic,TRIM5,NA,nonsynonymous SNV,TRIM5:NM_033092:exon7:c.A1001G:p.Y334C,D,.,N,T,N,T
chr11,5862565,5862565,C,T,P364157_S,OR52E6,Missense_Mutation,NM_001005167,exon1,c.G563A,p.R188H,SNP,SNVindel,exonic,OR52E6,NA,nonsynonymous SNV,OR52E6:NM_001005167:exon1:c.G563A:p.R188H,T,N,N,T,D,T
chr11,6898625,6898625,C,G,P364157_S,OR10A4,Silent,NM_207186,exon1,c.C747G,p.V249V,SNP,SNVindel,exonic,OR10A4,NA,synonymous SNV,OR10A4:NM_207186:exon1:c.C747G:p.V249V,NA,NA,NA,NA,NA,NA
chr11,17191032,17191032,C,T,P364157_S,PIK3C2A,Missense_Mutation,NM_002645,exon2,c.G257A,p.R86K,SNP,SNVindel,exonic,PIK3C2A,NA,nonsynonymous SNV,"PIK3C2A:NM_002645:exon2:c.G257A:p.R86K,PIK3C2A:NM_001321378:exon3:c.G257A:p.R86K",T,N,D,T,N,T
chr11,33049322,33049322,C,T,P364157_S,DEPDC7,Silent,NM_001077242,exon3,c.C555T,p.S185S,SNP,SNVindel,exonic,DEPDC7,NA,synonymous SNV,"DEPDC7:NM_001077242:exon3:c.C555T:p.S185S,DEPDC7:NM_139160:exon3:c.C528T:p.S176S",NA,NA,NA,NA,NA,NA
chr11,49204779,49204779,C,T,P364157_S,FOLH1,Missense_Mutation,NM_001014986,exon7,c.G842A,p.R281H,SNP,SNVindel,exonic,FOLH1,NA,nonsynonymous SNV,"FOLH1:NM_001014986:exon7:c.G842A:p.R281H,FOLH1:NM_004476:exon7:c.G842A:p.R281H,FOLH1:NM_001193471:exon8:c.G797A:p.R266H,FOLH1:NM_001193472:exon8:c.G797A:p.R266H,FOLH1:NM_001351236:exon8:c.G671A:p.R224H",T,N,D,T,N,T
chr11,51411612,51411612,A,T,P364157_S,OR4A5,Missense_Mutation,NM_001005272,exon1,c.T784A,p.F262I,SNP,SNVindel,exonic,OR4A5,NA,nonsynonymous SNV,OR4A5:NM_001005272:exon1:c.T784A:p.F262I,NA,NA,NA,NA,NA,NA
chr11,60482561,60482561,C,T,P364157_S,MS4A8,Missense_Mutation,NM_031457,exon6,c.C602T,p.A201V,SNP,SNVindel,exonic,MS4A8,NA,nonsynonymous SNV,MS4A8:NM_031457:exon6:c.C602T:p.A201V,T,N,N,T,N,T
chr11,66392363,66392363,C,T,P364157_S,RBM14,Missense_Mutation,NM_006328,exon2,c.C1016T,p.A339V,SNP,SNVindel,exonic,RBM14,NA,nonsynonymous SNV,RBM14:NM_006328:exon2:c.C1016T:p.A339V,D,N,D,D,N,T
chr11,67191375,67191375,G,T,P364157_S,CARNS1,Missense_Mutation,NM_020811,exon9,c.G1787T,p.G596V,SNP,SNVindel,exonic,CARNS1,NA,nonsynonymous SNV,"CARNS1:NM_020811:exon9:c.G1787T:p.G596V,CARNS1:NM_001166222:exon10:c.G2156T:p.G719V",D,D,D,D,D,D
chr11,76913361,76913361,C,T,P364157_S,MYO7A,Missense_Mutation,NM_000260,exon37,c.C5060T,p.T1687I,SNP,SNVindel,exonic,MYO7A,NA,nonsynonymous SNV,"MYO7A:NM_000260:exon37:c.C5060T:p.T1687I,MYO7A:NM_001127180:exon37:c.C4946T:p.T1649I,MYO7A:NM_001369365:exon38:c.C4913T:p.T1638I",D,D,D,D,D,D
chr11,114450889,114450889,C,A,P364157_S,NXPE4,Missense_Mutation,NM_001077639,exon5,c.G1064T,p.R355L,SNP,SNVindel,exonic,NXPE4,NA,nonsynonymous SNV,"NXPE4:NM_001077639:exon5:c.G1064T:p.R355L,NXPE4:NM_017678:exon5:c.G212T:p.R71L",T,N,D,T,D,T
chr11,114450890,114450890,G,T,P364157_S,NXPE4,Missense_Mutation,NM_001077639,exon5,c.C1063A,p.R355S,SNP,SNVindel,exonic,NXPE4,NA,nonsynonymous SNV,"NXPE4:NM_001077639:exon5:c.C1063A:p.R355S,NXPE4:NM_017678:exon5:c.C211A:p.R71S",D,N,D,T,D,T
chr11,123814296,123814296,C,T,P364157_S,OR6T1,Missense_Mutation,NM_001005187,exon1,c.G250A,p.V84I,SNP,SNVindel,exonic,OR6T1,NA,nonsynonymous SNV,OR6T1:NM_001005187:exon1:c.G250A:p.V84I,T,.,N,T,N,T
chr11,134073608,134073608,T,C,P364157_S,NCAPD3,Missense_Mutation,NM_015261,exon11,c.A1409G,p.H470R,SNP,SNVindel,exonic,NCAPD3,NA,nonsynonymous SNV,NCAPD3:NM_015261:exon11:c.A1409G:p.H470R,T,N,D,T,D,T
chr12,6747505,6747505,G,A,P364157_S,ACRBP,Silent,NM_032489,exon10,c.C1575T,p.D525D,SNP,SNVindel,exonic,ACRBP,NA,synonymous SNV,ACRBP:NM_032489:exon10:c.C1575T:p.D525D,NA,NA,NA,NA,NA,NA
chr12,12232575,12232575,C,T,P364157_S,BCL2L14,Silent,NM_030766,exon2,c.C336T,p.V112V,SNP,SNVindel,exonic,BCL2L14,NA,synonymous SNV,"BCL2L14:NM_030766:exon2:c.C336T:p.V112V,BCL2L14:NM_138722:exon2:c.C336T:p.V112V,BCL2L14:NM_138723:exon2:c.C336T:p.V112V,BCL2L14:NM_001370268:exon3:c.C336T:p.V112V,BCL2L14:NM_001370269:exon4:c.C336T:p.V112V",NA,NA,NA,NA,NA,NA
chr12,14018857,14018857,C,T,P364157_S,GRIN2B,Missense_Mutation,NM_000834,exon2,c.G286A,p.G96R,SNP,SNVindel,exonic,GRIN2B,NA,nonsynonymous SNV,GRIN2B:NM_000834:exon2:c.G286A:p.G96R,.,D,D,.,.,D
chr12,18439839,18439839,C,A,P364157_S,PIK3C2G,Missense_Mutation,NM_001288772,exon3,c.C737A,p.A246D,SNP,SNVindel,exonic,PIK3C2G,NA,nonsynonymous SNV,"PIK3C2G:NM_001288772:exon3:c.C737A:p.A246D,PIK3C2G:NM_001288774:exon3:c.C71A:p.A24D,PIK3C2G:NM_004570:exon3:c.C737A:p.A246D",D,N,N,T,D,T
chr12,25002759,25002759,C,T,P364157_S,BCAT1,Missense_Mutation,NM_001178092,exon4,c.G452A,p.R151K,SNP,SNVindel,exonic,BCAT1,NA,nonsynonymous SNV,"BCAT1:NM_001178092:exon4:c.G452A:p.R151K,BCAT1:NM_001178091:exon5:c.G524A:p.R175K,BCAT1:NM_001178093:exon6:c.G671A:p.R224K,BCAT1:NM_001178094:exon6:c.G632A:p.R211K,BCAT1:NM_005504:exon6:c.G635A:p.R212K",D,D,D,T,D,D
chr12,41419038,41419038,C,T,P364157_S,CNTN1,Silent,NM_175038,exon19,c.C2577T,p.N859N,SNP,SNVindel,exonic,CNTN1,NA,synonymous SNV,"CNTN1:NM_175038:exon19:c.C2577T:p.N859N,CNTN1:NM_001843:exon21:c.C2610T:p.N870N",NA,NA,NA,NA,NA,NA
chr12,45664289,45664289,C,T,P364157_S,ANO6,Missense_Mutation,NM_001204803,exon2,c.C115T,p.H39Y,SNP,SNVindel,exonic,ANO6,NA,nonsynonymous SNV,ANO6:NM_001204803:exon2:c.C115T:p.H39Y,T,.,N,T,N,T
chr12,56428891,56428891,C,T,P364157_S,IKZF4,Missense_Mutation,NM_001351090,exon7,c.C1399T,p.P467S,SNP,SNVindel,exonic,IKZF4,NA,nonsynonymous SNV,"IKZF4:NM_001351090:exon7:c.C1399T:p.P467S,IKZF4:NM_001351092:exon7:c.C1228T:p.P410S,IKZF4:NM_022465:exon8:c.C1534T:p.P512S,IKZF4:NM_001351091:exon9:c.C1393T:p.P465S,IKZF4:NM_001351089:exon12:c.C1534T:p.P512S",T,N,N,D,N,T
chr12,77421765,77421765,C,T,P364157_S,E2F7,Missense_Mutation,NM_203394,exon11,c.G2038A,p.G680R,SNP,SNVindel,exonic,E2F7,NA,nonsynonymous SNV,E2F7:NM_203394:exon11:c.G2038A:p.G680R,D,N,D,T,N,T
chr12,85264335,85264335,C,A,P364157_S,SLC6A15,Missense_Mutation,NM_001146335,exon8,c.G1096T,p.G366C,SNP,SNVindel,exonic,SLC6A15,NA,nonsynonymous SNV,"SLC6A15:NM_001146335:exon8:c.G1096T:p.G366C,SLC6A15:NM_182767:exon9:c.G1417T:p.G473C",D,D,D,T,D,D
chr12,120196433,120196433,T,C,P364157_S,CIT,Silent,NM_007174,exon20,c.A2367G,p.K789K,SNP,SNVindel,exonic,CIT,NA,synonymous SNV,"CIT:NM_007174:exon20:c.A2367G:p.K789K,CIT:NM_001206999:exon21:c.A2493G:p.K831K",NA,NA,NA,NA,NA,NA
chr12,122186268,122186268,C,T,P364157_S,TMEM120B,Silent,NM_001080825,exon3,c.C225T,p.L75L,SNP,SNVindel,exonic,TMEM120B,NA,synonymous SNV,TMEM120B:NM_001080825:exon3:c.C225T:p.L75L,NA,NA,NA,NA,NA,NA
chr12,124839478,124839478,G,A,P364157_S,NCOR2,Missense_Mutation,NM_001077261,exon26,c.C3359T,p.S1120L,SNP,SNVindel,exonic,NCOR2,NA,nonsynonymous SNV,"NCOR2:NM_001077261:exon26:c.C3359T:p.S1120L,NCOR2:NM_001206654:exon26:c.C3359T:p.S1120L,NCOR2:NM_006312:exon27:c.C3389T:p.S1130L",T,D,D,T,D,T
chr12,129373276,129373276,C,T,P364157_S,GLT1D1,Missense_Mutation,NM_001366887,exon2,c.C184T,p.L62F,SNP,SNVindel,exonic,GLT1D1,NA,nonsynonymous SNV,"GLT1D1:NM_001366887:exon2:c.C184T:p.L62F,GLT1D1:NM_001366886:exon3:c.C310T:p.L104F,GLT1D1:NM_001366889:exon3:c.C310T:p.L104F,GLT1D1:NM_144669:exon3:c.C310T:p.L104F",D,D,D,T,D,D
chr12,130831489,130831489,A,T,P364157_S,PIWIL1,Missense_Mutation,NM_001190971,exon6,c.A535T,p.T179S,SNP,SNVindel,exonic,PIWIL1,NA,nonsynonymous SNV,"PIWIL1:NM_001190971:exon6:c.A535T:p.T179S,PIWIL1:NM_004764:exon6:c.A535T:p.T179S",D,D,D,T,D,T
chr12,130831490,130831490,C,T,P364157_S,PIWIL1,Missense_Mutation,NM_001190971,exon6,c.C536T,p.T179I,SNP,SNVindel,exonic,PIWIL1,NA,nonsynonymous SNV,"PIWIL1:NM_001190971:exon6:c.C536T:p.T179I,PIWIL1:NM_004764:exon6:c.C536T:p.T179I",D,D,D,T,D,T
chr12,131561403,131561403,G,A,P364157_S,ADGRD1,Missense_Mutation,NM_198827,exon14,c.G1531A,p.A511T,SNP,SNVindel,exonic,ADGRD1,NA,nonsynonymous SNV,"ADGRD1:NM_198827:exon14:c.G1531A:p.A511T,ADGRD1:NM_001330497:exon15:c.G1627A:p.A543T",D,D,D,T,N,T
chr13,23777989,23777989,T,A,P364157_S,SGCG,Silent,NM_000231,exon2,c.T156A,p.A52A,SNP,SNVindel,exonic,SGCG,NA,synonymous SNV,SGCG:NM_000231:exon2:c.T156A:p.A52A,NA,NA,NA,NA,NA,NA
chr13,25480102,25480102,G,A,P364157_S,CENPJ,Missense_Mutation,NM_018451,exon7,c.C2074T,p.R692C,SNP,SNVindel,exonic,CENPJ,NA,nonsynonymous SNV,CENPJ:NM_018451:exon7:c.C2074T:p.R692C,D,N,N,T,N,T
chr14,20767540,20767540,T,C,P364157_S,TTC5,Missense_Mutation,NM_138376,exon4,c.A464G,p.D155G,SNP,SNVindel,exonic,TTC5,NA,nonsynonymous SNV,TTC5:NM_138376:exon4:c.A464G:p.D155G,T,N,D,T,D,T
chr14,23994244,23994244,C,T,P364157_S,ZFHX2,Missense_Mutation,NM_033400,exon9,c.G4907A,p.S1636N,SNP,SNVindel,exonic,ZFHX2,NA,nonsynonymous SNV,ZFHX2:NM_033400:exon9:c.G4907A:p.S1636N,T,D,D,D,N,T
chr14,45403682,45403682,A,T,P364157_S,KLHL28,Missense_Mutation,NM_001308112,exon3,c.T1021A,p.C341S,SNP,SNVindel,exonic,KLHL28,NA,nonsynonymous SNV,"KLHL28:NM_001308112:exon3:c.T1021A:p.C341S,KLHL28:NM_017658:exon3:c.T979A:p.C327S",T,D,D,T,N,T
chr14,100758738,100758738,G,A,P364157_S,SLC25A29,Missense_Mutation,NM_152333,exon3,c.C596T,p.T199I,SNP,SNVindel,exonic,SLC25A29,NA,nonsynonymous SNV,"SLC25A29:NM_152333:exon3:c.C596T:p.T199I,SLC25A29:NM_001039355:exon4:c.C794T:p.T265I,SLC25A29:NM_001291813:exon5:c.C596T:p.T199I,SLC25A29:NM_001291814:exon5:c.C596T:p.T199I,SLC25A29:NM_001352821:exon5:c.C953T:p.T318I,SLC25A29:NM_001352822:exon5:c.C596T:p.T199I,SLC25A29:NM_001352823:exon6:c.C596T:p.T199I,SLC25A29:NM_001352820:exon7:c.C596T:p.T199I",T,D,D,T,D,T
chr15,27193099,27193099,C,T,P364157_S,GABRA5,Silent,NM_000810,exon11,c.C1108T,p.L370L,SNP,SNVindel,exonic,GABRA5,NA,synonymous SNV,"GABRA5:NM_000810:exon11:c.C1108T:p.L370L,GABRA5:NM_001165037:exon11:c.C1108T:p.L370L",NA,NA,NA,NA,NA,NA
chr15,45052046,45052046,G,A,P364157_S,TRIM69,Missense_Mutation,NM_001301146,exon4,c.G226A,p.E76K,SNP,SNVindel,exonic,TRIM69,NA,nonsynonymous SNV,"TRIM69:NM_001301146:exon4:c.G226A:p.E76K,TRIM69:NM_001301144:exon5:c.G325A:p.E109K,TRIM69:NM_001301145:exon5:c.G274A:p.E92K,TRIM69:NM_080745:exon5:c.G460A:p.E154K,TRIM69:NM_182985:exon6:c.G937A:p.E313K",T,N,D,T,N,T
chr15,62939540,62939540,C,T,P364157_S,TLN2,Missense_Mutation,NM_015059,exon1,c.C31T,p.R11C,SNP,SNVindel,exonic,TLN2,NA,nonsynonymous SNV,TLN2:NM_015059:exon1:c.C31T:p.R11C,T,D,D,T,N,T
chr15,65369576,65369576,G,A,P364157_S,KBTBD13,Silent,NM_001101362,exon1,c.G423A,p.A141A,SNP,SNVindel,exonic,KBTBD13,NA,synonymous SNV,KBTBD13:NM_001101362:exon1:c.G423A:p.A141A,NA,NA,NA,NA,NA,NA
chr15,72954609,72954609,G,T,P364157_S,GOLGA6B,Silent,NM_018652,exon11,c.G864T,p.L288L,SNP,SNVindel,exonic,GOLGA6B,NA,synonymous SNV,GOLGA6B:NM_018652:exon11:c.G864T:p.L288L,NA,NA,NA,NA,NA,NA
chr15,78588017,78588017,C,T,P364157_S,WDR61,Silent,NM_001303247,exon2,c.G12A,p.Q4Q,SNP,SNVindel,exonic,WDR61,NA,synonymous SNV,"WDR61:NM_001303247:exon2:c.G12A:p.Q4Q,WDR61:NM_001303248:exon2:c.G12A:p.Q4Q,WDR61:NM_025234:exon2:c.G12A:p.Q4Q",NA,NA,NA,NA,NA,NA
chr15,81221506,81221506,C,T,P364157_S,CEMIP,Missense_Mutation,NM_018689,exon20,c.C2603T,p.P868L,SNP,SNVindel,exonic,CEMIP,NA,nonsynonymous SNV,"CEMIP:NM_018689:exon20:c.C2603T:p.P868L,CEMIP:NM_001293298:exon21:c.C2603T:p.P868L,CEMIP:NM_001293304:exon21:c.C2603T:p.P868L",D,D,D,T,D,T
chr15,83358153,83358153,C,T,P364157_S,AP3B2,Missense_Mutation,NM_001278511,exon2,c.G166A,p.E56K,SNP,SNVindel,exonic,AP3B2,NA,nonsynonymous SNV,"AP3B2:NM_001278511:exon2:c.G166A:p.E56K,AP3B2:NM_001278512:exon2:c.G166A:p.E56K,AP3B2:NM_001348440:exon2:c.G166A:p.E56K,AP3B2:NM_004644:exon2:c.G166A:p.E56K",D,D,D,T,D,T
chr15,90177100,90177100,C,T,P364157_S,KIF7,Silent,NM_198525,exon12,c.G2409A,p.K803K,SNP,SNVindel,exonic,KIF7,NA,synonymous SNV,KIF7:NM_198525:exon12:c.G2409A:p.K803K,NA,NA,NA,NA,NA,NA
chr16,3071775,3071775,C,T,P364157_S,TNFRSF12A,Missense_Mutation,NM_016639,exon4,c.C338T,p.P113L,SNP,SNVindel,exonic,TNFRSF12A,NA,nonsynonymous SNV,TNFRSF12A:NM_016639:exon4:c.C338T:p.P113L,D,D,D,.,D,T
chr16,28509448,28509448,G,A,P364157_S,APOBR,Missense_Mutation,NM_018690,exon3,c.G3002A,p.R1001H,SNP,SNVindel,exonic,APOBR,NA,nonsynonymous SNV,APOBR:NM_018690:exon3:c.G3002A:p.R1001H,D,.,N,T,D,T
chr16,55983727,55983727,C,T,P364157_S,CES5A,Missense_Mutation,NM_001190158,exon2,c.G130A,p.D44N,SNP,SNVindel,exonic,CES5A,NA,nonsynonymous SNV,CES5A:NM_001190158:exon2:c.G130A:p.D44N,T,.,N,T,N,T
chr16,56914114,56914114,G,A,P364157_S,SLC12A3,Missense_Mutation,NM_000339,exon12,c.G1516A,p.V506M,SNP,SNVindel,exonic,SLC12A3,NA,nonsynonymous SNV,"SLC12A3:NM_000339:exon12:c.G1516A:p.V506M,SLC12A3:NM_001126107:exon12:c.G1513A:p.V505M,SLC12A3:NM_001126108:exon12:c.G1516A:p.V506M",D,N,N,D,N,T
chr16,57284374,57284374,C,G,P364157_S,ARL2BP,Missense_Mutation,NM_012106,exon5,c.C345G,p.F115L,SNP,SNVindel,exonic,ARL2BP,NA,nonsynonymous SNV,ARL2BP:NM_012106:exon5:c.C345G:p.F115L,T,U,D,T,D,T
chr16,57284376,57284376,C,T,P364157_S,ARL2BP,Missense_Mutation,NM_012106,exon5,c.C347T,p.T116I,SNP,SNVindel,exonic,ARL2BP,NA,nonsynonymous SNV,ARL2BP:NM_012106:exon5:c.C347T:p.T116I,D,U,D,T,D,T
chr16,58043898,58043898,C,T,P364157_S,USB1,Missense_Mutation,NM_001195302,exon3,c.C331T,p.P111S,SNP,SNVindel,exonic,USB1,NA,nonsynonymous SNV,"USB1:NM_001195302:exon3:c.C331T:p.P111S,USB1:NM_001204911:exon3:c.C331T:p.P111S,USB1:NM_001330568:exon3:c.C178T:p.P60S,USB1:NM_001330569:exon3:c.C331T:p.P111S,USB1:NM_024598:exon3:c.C331T:p.P111S",T,N,N,T,N,T
chr16,66413370,66413370,C,T,P364157_S,CDH5,Missense_Mutation,NM_001795,exon2,c.C130T,p.R44C,SNP,SNVindel,exonic,CDH5,NA,nonsynonymous SNV,CDH5:NM_001795:exon2:c.C130T:p.R44C,D,.,D,T,D,T
chr17,1747283,1747283,A,G,P364157_S,RPA1,Missense_Mutation,NM_001355120,exon3,c.A115G,p.T39A,SNP,SNVindel,exonic,RPA1,NA,nonsynonymous SNV,"RPA1:NM_001355120:exon3:c.A115G:p.T39A,RPA1:NM_001355121:exon3:c.A154G:p.T52A,RPA1:NM_002945:exon3:c.A154G:p.T52A",T,D,D,T,N,T
chr17,4455569,4455569,C,T,P364157_S,MYBBP1A,Silent,NM_001105538,exon7,c.G756A,p.K252K,SNP,SNVindel,exonic,MYBBP1A,NA,synonymous SNV,"MYBBP1A:NM_001105538:exon7:c.G756A:p.K252K,MYBBP1A:NM_014520:exon7:c.G756A:p.K252K",NA,NA,NA,NA,NA,NA
chr17,6493866,6493866,G,A,P364157_S,KIAA0753,Missense_Mutation,NM_001351225,exon17,c.C1628T,p.A543V,SNP,SNVindel,exonic,KIAA0753,NA,nonsynonymous SNV,"KIAA0753:NM_001351225:exon17:c.C1628T:p.A543V,KIAA0753:NM_014804:exon17:c.C2525T:p.A842V",T,N,N,T,N,T
chr17,8700802,8700802,G,A,P364157_S,MFSD6L,Missense_Mutation,NM_152599,exon1,c.C1637T,p.P546L,SNP,SNVindel,exonic,MFSD6L,NA,nonsynonymous SNV,MFSD6L:NM_152599:exon1:c.C1637T:p.P546L,D,D,D,D,D,D
chr17,16216864,16216864,G,A,P364157_S,PIGL,Missense_Mutation,NM_004278,exon4,c.G430A,p.V144M,SNP,SNVindel,exonic,PIGL,NA,nonsynonymous SNV,PIGL:NM_004278:exon4:c.G430A:p.V144M,D,D,D,T,N,D
chr17,18070949,18070949,A,G,P364157_S,MYO15A,Missense_Mutation,NM_016239,exon61,c.A9994G,p.S3332G,SNP,SNVindel,exonic,MYO15A,NA,nonsynonymous SNV,MYO15A:NM_016239:exon61:c.A9994G:p.S3332G,T,.,N,T,N,T
chr17,26902303,26902303,C,T,P364157_S,ALDOC,Silent,NM_005165,exon3,c.G162A,p.E54E,SNP,SNVindel,exonic,ALDOC,NA,synonymous SNV,ALDOC:NM_005165:exon3:c.G162A:p.E54E,NA,NA,NA,NA,NA,NA
chr17,40726123,40726123,C,T,P364157_S,PSMC3IP,Missense_Mutation,NM_001256014,exon3,c.G142A,p.E48K,SNP,SNVindel,exonic,PSMC3IP,NA,nonsynonymous SNV,"PSMC3IP:NM_001256014:exon3:c.G142A:p.E48K,PSMC3IP:NM_001256015:exon4:c.G94A:p.E32K,PSMC3IP:NM_013290:exon4:c.G331A:p.E111K,PSMC3IP:NM_016556:exon4:c.G331A:p.E111K,PSMC3IP:NM_001256016:exon5:c.G94A:p.E32K",D,D,D,T,D,T
chr17,42337808,42337808,C,T,P364157_S,SLC4A1,Missense_Mutation,NM_000342,exon6,c.G449A,p.R150Q,SNP,SNVindel,exonic,SLC4A1,NA,nonsynonymous SNV,SLC4A1:NM_000342:exon6:c.G449A:p.R150Q,T,N,D,T,D,T
chr17,42635871,42635871,G,A,P364157_S,FZD2,Missense_Mutation,NM_001466,exon1,c.G815A,p.R272H,SNP,SNVindel,exonic,FZD2,NA,nonsynonymous SNV,FZD2:NM_001466:exon1:c.G815A:p.R272H,D,D,D,D,D,D
chr17,48668892,48668892,G,A,P364157_S,CACNA1G,Silent,NM_001256324,exon11,c.G2550A,p.A850A,SNP,SNVindel,exonic,CACNA1G,NA,synonymous SNV,"CACNA1G:NM_001256324:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256325:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256326:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256327:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256328:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256329:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256330:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256331:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256332:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256333:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256334:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256359:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256360:exon11:c.G2550A:p.A850A,CACNA1G:NM_001256361:exon11:c.G2550A:p.A850A,CACNA1G:NM_018896:exon11:c.G2550A:p.A850A,CACNA1G:NM_198376:exon11:c.G2550A:p.A850A,CACNA1G:NM_198377:exon11:c.G2550A:p.A850A,CACNA1G:NM_198378:exon11:c.G2550A:p.A850A,CACNA1G:NM_198379:exon11:c.G2550A:p.A850A,CACNA1G:NM_198380:exon11:c.G2550A:p.A850A,CACNA1G:NM_198382:exon11:c.G2550A:p.A850A,CACNA1G:NM_198383:exon11:c.G2550A:p.A850A,CACNA1G:NM_198384:exon11:c.G2550A:p.A850A,CACNA1G:NM_198385:exon11:c.G2550A:p.A850A,CACNA1G:NM_198386:exon11:c.G2550A:p.A850A,CACNA1G:NM_198387:exon11:c.G2550A:p.A850A,CACNA1G:NM_198388:exon11:c.G2550A:p.A850A,CACNA1G:NM_198396:exon11:c.G2550A:p.A850A",NA,NA,NA,NA,NA,NA
chr17,57292361,57292361,T,C,P364157_S,SMG8,Nonstop_Mutation,NM_018149,exon4,c.T2974C,p.X992Q,SNP,SNVindel,exonic,SMG8,NA,stoploss,SMG8:NM_018149:exon4:c.T2974C:p.X992Q,.,.,N,.,.,.
chr17,63173854,63173854,G,T,P364157_S,RGS9,Missense_Mutation,NM_001081955,exon9,c.G587T,p.G196V,SNP,SNVindel,exonic,RGS9,NA,nonsynonymous SNV,"RGS9:NM_001081955:exon9:c.G587T:p.G196V,RGS9:NM_001165933:exon9:c.G587T:p.G196V,RGS9:NM_003835:exon9:c.G587T:p.G196V",D,D,D,T,D,T
chr17,72943336,72943336,C,A,P364157_S,OTOP3,Silent,NM_001272005,exon6,c.C1332A,p.I444I,SNP,SNVindel,exonic,OTOP3,NA,synonymous SNV,"OTOP3:NM_001272005:exon6:c.C1332A:p.I444I,OTOP3:NM_178233:exon6:c.C1386A:p.I462I",NA,NA,NA,NA,NA,NA
chr17,72999438,72999438,G,A,P364157_S,CDR2L,Missense_Mutation,NM_014603,exon5,c.G667A,p.V223M,SNP,SNVindel,exonic,CDR2L,NA,nonsynonymous SNV,CDR2L:NM_014603:exon5:c.G667A:p.V223M,T,.,D,T,N,T
chr17,80543960,80543960,G,A,P364157_S,FOXK2,Missense_Mutation,NM_004514,exon7,c.G1460A,p.G487E,SNP,SNVindel,exonic,FOXK2,NA,nonsynonymous SNV,FOXK2:NM_004514:exon7:c.G1460A:p.G487E,D,N,N,D,N,T
chr18,48255849,48255849,G,A,P364157_S,MAPK4,Nonsense_Mutation,NM_001292039,exon5,c.G756A,p.W252X,SNP,SNVindel,exonic,MAPK4,NA,stopgain,"MAPK4:NM_001292039:exon5:c.G756A:p.W252X,MAPK4:NM_002747:exon6:c.G1389A:p.W463X",.,D,D,.,.,.
chr19,3633478,3633478,T,C,P364157_S,PIP5K1C,Missense_Mutation,NM_012398,exon17,c.A1961G,p.Y654C,SNP,SNVindel,exonic,PIP5K1C,NA,nonsynonymous SNV,PIP5K1C:NM_012398:exon17:c.A1961G:p.Y654C,D,U,D,T,N,T
chr19,4499596,4499596,A,G,P364157_S,HDGFL2,Missense_Mutation,NM_001001520,exon14,c.A1684G,p.N562D,SNP,SNVindel,exonic,HDGFL2,NA,nonsynonymous SNV,"HDGFL2:NM_001001520:exon14:c.A1684G:p.N562D,HDGFL2:NM_001348169:exon14:c.A1756G:p.N586D,HDGFL2:NM_032631:exon14:c.A1684G:p.N562D",.,N,N,.,.,T
chr19,6750525,6750525,C,G,P364157_S,TRIP10,Missense_Mutation,NM_001288963,exon13,c.C1370G,p.S457C,SNP,SNVindel,exonic,TRIP10,NA,nonsynonymous SNV,"TRIP10:NM_001288963:exon13:c.C1370G:p.S457C,TRIP10:NM_004240:exon13:c.C1370G:p.S457C,TRIP10:NM_001288962:exon14:c.C1538G:p.S513C",T,N,D,T,N,T
chr19,6750551,6750551,C,T,P364157_S,TRIP10,Nonsense_Mutation,NM_001288963,exon13,c.C1396T,p.Q466X,SNP,SNVindel,exonic,TRIP10,NA,stopgain,"TRIP10:NM_001288963:exon13:c.C1396T:p.Q466X,TRIP10:NM_004240:exon13:c.C1396T:p.Q466X,TRIP10:NM_001288962:exon14:c.C1564T:p.Q522X",.,N,A,.,.,.
chr19,6750631,6750631,C,G,P364157_S,TRIP10,Missense_Mutation,NM_001288963,exon13,c.C1476G,p.I492M,SNP,SNVindel,exonic,TRIP10,NA,nonsynonymous SNV,"TRIP10:NM_001288963:exon13:c.C1476G:p.I492M,TRIP10:NM_004240:exon13:c.C1476G:p.I492M,TRIP10:NM_001288962:exon14:c.C1644G:p.I548M",D,N,D,T,N,T
chr19,23328628,23328628,G,T,P364157_S,ZNF730,Missense_Mutation,NM_001277403,exon4,c.G782T,p.C261F,SNP,SNVindel,exonic,ZNF730,NA,nonsynonymous SNV,ZNF730:NM_001277403:exon4:c.G782T:p.C261F,.,.,D,D,.,D
chr19,23329121,23329121,A,C,P364157_S,ZNF730,Missense_Mutation,NM_001277403,exon4,c.A1275C,p.K425N,SNP,SNVindel,exonic,ZNF730,NA,nonsynonymous SNV,ZNF730:NM_001277403:exon4:c.A1275C:p.K425N,.,.,N,T,.,T
chr19,31769652,31769652,G,A,P364157_S,TSHZ3,Silent,NM_020856,exon2,c.C1047T,p.N349N,SNP,SNVindel,exonic,TSHZ3,NA,synonymous SNV,TSHZ3:NM_020856:exon2:c.C1047T:p.N349N,NA,NA,NA,NA,NA,NA
chr19,33651335,33651335,C,A,P364157_S,WDR88,Missense_Mutation,NM_173479,exon8,c.C1013A,p.S338Y,SNP,SNVindel,exonic,WDR88,NA,nonsynonymous SNV,WDR88:NM_173479:exon8:c.C1013A:p.S338Y,D,N,N,T,D,D
chr19,38966021,38966021,C,T,P364157_S,RYR1,Silent,NM_000540,exon29,c.C4224T,p.P1408P,SNP,SNVindel,exonic,RYR1,NA,synonymous SNV,"RYR1:NM_000540:exon29:c.C4224T:p.P1408P,RYR1:NM_001042723:exon29:c.C4224T:p.P1408P",NA,NA,NA,NA,NA,NA
chr19,41800296,41800296,A,G,P364157_S,HNRNPUL1,Silent,NM_001301016,exon9,c.A1053G,p.K351K,SNP,SNVindel,exonic,HNRNPUL1,NA,synonymous SNV,"HNRNPUL1:NM_001301016:exon9:c.A1053G:p.K351K,HNRNPUL1:NM_001321208:exon9:c.A1020G:p.K340K,HNRNPUL1:NM_001321211:exon9:c.A1020G:p.K340K,HNRNPUL1:NM_007040:exon9:c.A1320G:p.K440K,HNRNPUL1:NM_144732:exon9:c.A1020G:p.K340K",NA,NA,NA,NA,NA,NA
chr19,41826307,41826307,G,A,P364157_S,CCDC97,Silent,NM_001346100,exon4,c.G648A,p.L216L,SNP,SNVindel,exonic,CCDC97,NA,synonymous SNV,"CCDC97:NM_001346100:exon4:c.G648A:p.L216L,CCDC97:NM_052848:exon4:c.G843A:p.L281L",NA,NA,NA,NA,NA,NA
chr19,41826308,41826308,C,A,P364157_S,CCDC97,Silent,NM_001346100,exon4,c.C649A,p.R217R,SNP,SNVindel,exonic,CCDC97,NA,synonymous SNV,"CCDC97:NM_001346100:exon4:c.C649A:p.R217R,CCDC97:NM_052848:exon4:c.C844A:p.R282R",NA,NA,NA,NA,NA,NA
chr19,42413467,42413467,C,T,P364157_S,ERFL,Silent,NM_001365103,exon4,c.G459A,p.G153G,SNP,SNVindel,exonic,ERFL,NA,synonymous SNV,ERFL:NM_001365103:exon4:c.G459A:p.G153G,NA,NA,NA,NA,NA,NA
chr19,45992806,45992806,C,G,P364157_S,RTN2,Missense_Mutation,NM_206901,exon2,c.G19C,p.D7H,SNP,SNVindel,exonic,RTN2,NA,nonsynonymous SNV,"RTN2:NM_206901:exon2:c.G19C:p.D7H,RTN2:NM_206900:exon5:c.G820C:p.D274H,RTN2:NM_005619:exon6:c.G1039C:p.D347H",D,D,D,T,D,T
chr19,47960234,47960234,G,A,P364157_S,SLC8A2,Silent,NM_015063,exon3,c.C1293T,p.Y431Y,SNP,SNVindel,exonic,SLC8A2,NA,synonymous SNV,SLC8A2:NM_015063:exon3:c.C1293T:p.Y431Y,NA,NA,NA,NA,NA,NA
chr19,51330239,51330239,C,T,P364157_S,KLK15,Missense_Mutation,NM_001277081,exon3,c.G373A,p.V125M,SNP,SNVindel,exonic,KLK15,NA,nonsynonymous SNV,"KLK15:NM_001277081:exon3:c.G373A:p.V125M,KLK15:NM_001277082:exon3:c.G373A:p.V125M,KLK15:NM_017509:exon3:c.G376A:p.V126M",.,N,N,D,.,T
chr19,57867793,57867793,C,T,P364157_S,ZNF304,Nonsense_Mutation,NM_020657,exon3,c.C556T,p.Q186X,SNP,SNVindel,exonic,ZNF304,NA,stopgain,"ZNF304:NM_020657:exon3:c.C556T:p.Q186X,ZNF304:NM_001290318:exon4:c.C697T:p.Q233X,ZNF304:NM_001290319:exon4:c.C430T:p.Q144X,ZNF304:NM_001329456:exon4:c.C280T:p.Q94X",.,.,D,.,.,.
chr19,57910054,57910054,G,A,P364157_S,ZNF548,Silent,NM_152909,exon3,c.G399A,p.G133G,SNP,SNVindel,exonic,ZNF548,NA,synonymous SNV,"ZNF548:NM_152909:exon3:c.G399A:p.G133G,ZNF548:NM_001172773:exon4:c.G435A:p.G145G",NA,NA,NA,NA,NA,NA
chr19,58489963,58489963,G,T,P364157_S,ZNF606,Silent,NM_001348023,exon6,c.C1815A,p.L605L,SNP,SNVindel,exonic,ZNF606,NA,synonymous SNV,"ZNF606:NM_001348023:exon6:c.C1815A:p.L605L,ZNF606:NM_001348024:exon6:c.C1815A:p.L605L,ZNF606:NM_001348022:exon7:c.C2085A:p.L695L,ZNF606:NM_001348025:exon7:c.C1611A:p.L537L,ZNF606:NM_025027:exon7:c.C2085A:p.L695L",NA,NA,NA,NA,NA,NA
chr20,15967791,15967791,G,A,P364157_S,MACROD2,Missense_Mutation,NM_001033087,exon11,c.G436A,p.E146K,SNP,SNVindel,exonic,MACROD2,NA,nonsynonymous SNV,"MACROD2:NM_001033087:exon11:c.G436A:p.E146K,MACROD2:NM_001351664:exon12:c.G517A:p.E173K,MACROD2:NM_001351661:exon15:c.G1141A:p.E381K,MACROD2:NM_001351663:exon15:c.G1141A:p.E381K,MACROD2:NM_080676:exon15:c.G1141A:p.E381K",D,N,N,T,N,T
chr20,34285669,34285669,G,A,P364157_S,NFS1,Silent,NM_001198989,exon3,c.C261T,p.N87N,SNP,SNVindel,exonic,NFS1,NA,synonymous SNV,"NFS1:NM_001198989:exon3:c.C261T:p.N87N,NFS1:NM_021100:exon3:c.C261T:p.N87N",NA,NA,NA,NA,NA,NA
chr20,36937378,36937378,G,A,P364157_S,BPI,Missense_Mutation,NM_001725,exon3,c.G304A,p.V102M,SNP,SNVindel,exonic,BPI,NA,nonsynonymous SNV,BPI:NM_001725:exon3:c.G304A:p.V102M,T,N,N,T,N,T
chr20,37202902,37202902,C,A,P364157_S,RALGAPB,Missense_Mutation,NM_001282917,exon29,c.C4252A,p.P1418T,SNP,SNVindel,exonic,RALGAPB,NA,nonsynonymous SNV,"RALGAPB:NM_001282917:exon29:c.C4252A:p.P1418T,RALGAPB:NM_001282918:exon29:c.C4243A:p.P1415T,RALGAPB:NM_020336:exon29:c.C4252A:p.P1418T",D,D,D,D,D,D
chr20,44533674,44533674,C,T,P364157_S,PLTP,Missense_Mutation,NM_001242920,exon7,c.G504A,p.M168I,SNP,SNVindel,exonic,PLTP,NA,nonsynonymous SNV,"PLTP:NM_001242920:exon7:c.G504A:p.M168I,PLTP:NM_001242921:exon7:c.G525A:p.M175I,PLTP:NM_182676:exon8:c.G633A:p.M211I,PLTP:NM_006227:exon9:c.G789A:p.M263I",D,D,D,T,D,T
chr20,45188802,45188802,G,A,P364157_S,SLC13A3,Silent,NM_001193339,exon12,c.C1518T,p.V506V,SNP,SNVindel,exonic,SLC13A3,NA,synonymous SNV,"SLC13A3:NM_001193339:exon12:c.C1518T:p.V506V,SLC13A3:NM_001193340:exon13:c.C1422T:p.V474V,SLC13A3:NM_001193342:exon13:c.C1374T:p.V458V,SLC13A3:NM_022829:exon13:c.C1668T:p.V556V,SLC13A3:NM_001011554:exon14:c.C1527T:p.V509V",NA,NA,NA,NA,NA,NA
chr20,46264184,46264184,A,G,P364157_S,NCOA3,Missense_Mutation,NM_001174087,exon11,c.A1231G,p.M411V,SNP,SNVindel,exonic,NCOA3,NA,nonsynonymous SNV,"NCOA3:NM_001174087:exon11:c.A1231G:p.M411V,NCOA3:NM_001174088:exon11:c.A1261G:p.M421V,NCOA3:NM_006534:exon11:c.A1231G:p.M411V,NCOA3:NM_181659:exon11:c.A1231G:p.M411V",T,N,D,T,N,T
chr20,49510082,49510082,G,C,P364157_S,ADNP,Missense_Mutation,NM_001282532,exon4,c.C1169G,p.A390G,SNP,SNVindel,exonic,ADNP,NA,nonsynonymous SNV,"ADNP:NM_001282532:exon4:c.C1169G:p.A390G,ADNP:NM_181442:exon4:c.C1169G:p.A390G,ADNP:NM_001347511:exon5:c.C1169G:p.A390G,ADNP:NM_015339:exon5:c.C1169G:p.A390G,ADNP:NM_001282531:exon6:c.C1169G:p.A390G",D,D,N,.,N,T
chr20,55021022,55021022,G,A,P364157_S,CASS4,Missense_Mutation,NM_001164114,exon3,c.G364A,p.V122M,SNP,SNVindel,exonic,CASS4,NA,nonsynonymous SNV,"CASS4:NM_001164114:exon3:c.G364A:p.V122M,CASS4:NM_001164115:exon3:c.G526A:p.V176M,CASS4:NM_020356:exon3:c.G526A:p.V176M,CASS4:NM_001164116:exon4:c.G526A:p.V176M",D,N,N,T,N,T
chr20,56136631,56136631,G,A,P364157_S,PCK1,Missense_Mutation,NM_002591,exon2,c.G164A,p.R55Q,SNP,SNVindel,exonic,PCK1,NA,nonsynonymous SNV,PCK1:NM_002591:exon2:c.G164A:p.R55Q,T,N,D,T,N,T
chr20,62195190,62195190,G,A,P364157_S,HELZ2,Missense_Mutation,NM_033405,exon3,c.C3278T,p.S1093L,SNP,SNVindel,exonic,HELZ2,NA,nonsynonymous SNV,"HELZ2:NM_033405:exon3:c.C3278T:p.S1093L,HELZ2:NM_001037335:exon9:c.C4985T:p.S1662L",D,D,D,T,D,T
chr21,35468103,35468103,T,C,P364157_S,SLC5A3,Silent,NM_006933,exon2,c.T606C,p.I202I,SNP,SNVindel,exonic,SLC5A3,NA,synonymous SNV,SLC5A3:NM_006933:exon2:c.T606C:p.I202I,NA,NA,NA,NA,NA,NA
chr22,37267706,37267706,C,T,P364157_S,NCF4,Silent,NM_000631,exon6,c.C483T,p.S161S,SNP,SNVindel,exonic,NCF4,NA,synonymous SNV,"NCF4:NM_000631:exon6:c.C483T:p.S161S,NCF4:NM_013416:exon6:c.C483T:p.S161S",NA,NA,NA,NA,NA,NA
chrX,17072995,17072995,C,T,P364157_S,REPS2,Missense_Mutation,NM_001080975,exon8,c.C1033T,p.L345F,SNP,SNVindel,exonic,REPS2,NA,nonsynonymous SNV,"REPS2:NM_001080975:exon8:c.C1033T:p.L345F,REPS2:NM_004726:exon8:c.C1036T:p.L346F",D,D,D,T,D,T
chrX,19560254,19560254,C,T,P364157_S,SH3KBP1,Missense_Mutation,NM_001353897,exon10,c.G838A,p.G280S,SNP,SNVindel,exonic,SH3KBP1,NA,nonsynonymous SNV,"SH3KBP1:NM_001353897:exon10:c.G838A:p.G280S,SH3KBP1:NM_001184960:exon11:c.G967A:p.G323S,SH3KBP1:NM_001024666:exon15:c.G1570A:p.G524S,SH3KBP1:NM_001353890:exon15:c.G1552A:p.G518S,SH3KBP1:NM_001353894:exon15:c.G1450A:p.G484S,SH3KBP1:NM_001353892:exon16:c.G1627A:p.G543S,SH3KBP1:NM_001353893:exon16:c.G1579A:p.G527S,SH3KBP1:NM_001353895:exon16:c.G1507A:p.G503S,SH3KBP1:NM_031892:exon16:c.G1681A:p.G561S,SH3KBP1:NM_001353891:exon17:c.G1756A:p.G586S",T,N,N,T,N,T
chrX,26212296,26212296,C,A,P364157_S,MAGEB6,Silent,NM_173523,exon2,c.C333A,p.P111P,SNP,SNVindel,exonic,MAGEB6,NA,synonymous SNV,MAGEB6:NM_173523:exon2:c.C333A:p.P111P,NA,NA,NA,NA,NA,NA
chrX,65817920,65817920,C,T,P364157_S,EDA2R,Missense_Mutation,NM_001324202,exon5,c.G253A,p.G85S,SNP,SNVindel,exonic,EDA2R,NA,nonsynonymous SNV,"EDA2R:NM_001324202:exon5:c.G253A:p.G85S,EDA2R:NM_001324204:exon5:c.G334A:p.G112S,EDA2R:NM_001324205:exon5:c.G328A:p.G110S",NA,NA,NA,NA,NA,NA
chrX,70375167,70375167,T,C,P364157_S,NLGN3,Silent,NM_001166660,exon3,c.T561C,p.Y187Y,SNP,SNVindel,exonic,NLGN3,NA,synonymous SNV,"NLGN3:NM_001166660:exon3:c.T561C:p.Y187Y,NLGN3:NM_001321276:exon4:c.T270C:p.Y90Y,NLGN3:NM_018977:exon4:c.T621C:p.Y207Y,NLGN3:NM_181303:exon5:c.T681C:p.Y227Y",NA,NA,NA,NA,NA,NA
chrX,76937862,76937862,A,T,P364157_S,ATRX,Silent,NM_138270,exon8,c.T2772A,p.S924S,SNP,SNVindel,exonic,ATRX,NA,synonymous SNV,"ATRX:NM_138270:exon8:c.T2772A:p.S924S,ATRX:NM_000489:exon9:c.T2886A:p.S962S",NA,NA,NA,NA,NA,NA
chrX,106185244,106185244,C,T,P364157_S,MORC4,Missense_Mutation,NM_001085354,exon16,c.G2584A,p.E862K,SNP,SNVindel,exonic,MORC4,NA,nonsynonymous SNV,"MORC4:NM_001085354:exon16:c.G2584A:p.E862K,MORC4:NM_024657:exon16:c.G2584A:p.E862K",D,N,D,T,N,T
chrX,117033270,117033270,A,C,P364157_S,KLHL13,Silent,NM_001168300,exon7,c.T1551G,p.T517T,SNP,SNVindel,exonic,KLHL13,NA,synonymous SNV,"KLHL13:NM_001168300:exon7:c.T1551G:p.T517T,KLHL13:NM_001168303:exon7:c.T1443G:p.T481T,KLHL13:NM_033495:exon7:c.T1569G:p.T523T,KLHL13:NM_001168299:exon8:c.T1578G:p.T526T,KLHL13:NM_001168301:exon8:c.T1521G:p.T507T,KLHL13:NM_001168302:exon8:c.T1521G:p.T507T",NA,NA,NA,NA,NA,NA
chrX,119760638,119760638,G,A,P364157_S,C1GALT1C1,Silent,NM_001011551,exon2,c.C384T,p.Y128Y,SNP,SNVindel,exonic,C1GALT1C1,NA,synonymous SNV,"C1GALT1C1:NM_001011551:exon2:c.C384T:p.Y128Y,C1GALT1C1:NM_152692:exon3:c.C384T:p.Y128Y",NA,NA,NA,NA,NA,NA
chrX,122387390,122387390,C,T,P364157_S,GRIA3,Nonsense_Mutation,NM_000828,exon3,c.C505T,p.R169X,SNP,SNVindel,exonic,GRIA3,NA,stopgain,"GRIA3:NM_000828:exon3:c.C505T:p.R169X,GRIA3:NM_007325:exon3:c.C505T:p.R169X",.,D,A,.,.,.
chrX,123779057,123779057,G,A,P364157_S,TENM1,Silent,NM_001163278,exon10,c.C1812T,p.H604H,SNP,SNVindel,exonic,TENM1,NA,synonymous SNV,"TENM1:NM_001163278:exon10:c.C1812T:p.H604H,TENM1:NM_001163279:exon10:c.C1809T:p.H603H,TENM1:NM_014253:exon10:c.C1812T:p.H604H",NA,NA,NA,NA,NA,NA
chrX,135426630,135426630,T,G,P364157_S,ADGRG4,Missense_Mutation,NM_153834,exon6,c.T765G,p.I255M,SNP,SNVindel,exonic,ADGRG4,NA,nonsynonymous SNV,ADGRG4:NM_153834:exon6:c.T765G:p.I255M,D,.,N,T,N,T
chrX,140270952,140270952,G,A,P364157_S,LDOC1,Silent,NM_012317,exon1,c.C255T,p.D85D,SNP,SNVindel,exonic,LDOC1,NA,synonymous SNV,LDOC1:NM_012317:exon1:c.C255T:p.D85D,NA,NA,NA,NA,NA,NA
chrX,142717370,142717370,G,T,P364157_S,SLITRK4,Missense_Mutation,NM_001184749,exon2,c.C1555A,p.Q519K,SNP,SNVindel,exonic,SLITRK4,NA,nonsynonymous SNV,"SLITRK4:NM_001184749:exon2:c.C1555A:p.Q519K,SLITRK4:NM_001184750:exon2:c.C1555A:p.Q519K,SLITRK4:NM_173078:exon2:c.C1555A:p.Q519K",D,U,D,T,N,T
chrX,148582491,148582491,C,T,P364157_S,IDS,Missense_Mutation,NM_000202,exon4,c.G496A,p.E166K,SNP,SNVindel,exonic,IDS,NA,nonsynonymous SNV,"IDS:NM_000202:exon4:c.G496A:p.E166K,IDS:NM_001166550:exon4:c.G226A:p.E76K,IDS:NM_006123:exon4:c.G496A:p.E166K",T,D,D,D,N,D
chrX,153587698,153587698,C,T,P364157_S,FLNA,Missense_Mutation,NM_001110556,exon25,c.G4219A,p.D1407N,SNP,SNVindel,exonic,FLNA,NA,nonsynonymous SNV,"FLNA:NM_001110556:exon25:c.G4219A:p.D1407N,FLNA:NM_001456:exon25:c.G4219A:p.D1407N",T,D,D,D,D,D
chr1,15541857,15541857,C,T,P376588_F,TMEM51,Missense_Mutation,NM_001136217,exon2,c.C274T,p.R92W,SNP,SNVindel,exonic,TMEM51,NA,nonsynonymous SNV,"TMEM51:NM_001136217:exon2:c.C274T:p.R92W,TMEM51:NM_018022:exon2:c.C274T:p.R92W,TMEM51:NM_001136216:exon3:c.C274T:p.R92W,TMEM51:NM_001136218:exon3:c.C274T:p.R92W,TMEM51:NM_001319665:exon3:c.C274T:p.R92W",D,D,D,T,D,T
chr1,18809503,18809503,C,T,P376588_F,KLHDC7A,Silent,NM_152375,exon1,c.C2028T,p.N676N,SNP,SNVindel,exonic,KLHDC7A,NA,synonymous SNV,KLHDC7A:NM_152375:exon1:c.C2028T:p.N676N,NA,NA,NA,NA,NA,NA
chr1,110754388,110754388,C,T,P376588_F,KCNC4,Silent,NM_001039574,exon1,c.C267T,p.G89G,SNP,SNVindel,exonic,KCNC4,NA,synonymous SNV,"KCNC4:NM_001039574:exon1:c.C267T:p.G89G,KCNC4:NM_004978:exon1:c.C267T:p.G89G",NA,NA,NA,NA,NA,NA
chr1,144815953,144815953,A,G,P376588_F,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,145323667,145323667,C,G,P376588_F,NBPF10,Missense_Mutation,NM_001039703,exon29,c.C3729G,p.D1243E,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon29:c.C3729G:p.D1243E,NBPF10:NM_001302371:exon29:c.C3729G:p.D1243E",.,.,N,.,.,T
chr1,152082174,152082174,T,G,P376588_F,TCHH,Missense_Mutation,NM_007113,exon3,c.A3519C,p.E1173D,SNP,SNVindel,exonic,TCHH,NA,nonsynonymous SNV,TCHH:NM_007113:exon3:c.A3519C:p.E1173D,T,.,N,T,N,T
chr1,214178568,214178568,C,T,P376588_F,PROX1,Missense_Mutation,NM_001270616,exon3,c.C1786T,p.R596C,SNP,SNVindel,exonic,PROX1,NA,nonsynonymous SNV,"PROX1:NM_001270616:exon3:c.C1786T:p.R596C,PROX1:NM_002763:exon3:c.C1786T:p.R596C",D,D,D,T,D,T
chr1,228403335,228403335,G,A,P376588_F,OBSCN,Missense_Mutation,NM_001098623,exon6,c.G1900A,p.V634M,SNP,SNVindel,exonic,OBSCN,NA,nonsynonymous SNV,"OBSCN:NM_001098623:exon6:c.G1900A:p.V634M,OBSCN:NM_001271223:exon6:c.G1900A:p.V634M,OBSCN:NM_052843:exon6:c.G1900A:p.V634M",D,D,D,T,N,T
chr1,237550598,237550598,C,T,P376588_F,RYR2,Silent,NM_001035,exon9,c.C594T,p.N198N,SNP,SNVindel,exonic,RYR2,NA,synonymous SNV,RYR2:NM_001035:exon9:c.C594T:p.N198N,NA,NA,NA,NA,NA,NA
chr2,9540936,9540936,C,T,P376588_F,ASAP2,Missense_Mutation,NM_001135191,exon25,c.C2665T,p.P889S,SNP,SNVindel,exonic,ASAP2,NA,nonsynonymous SNV,"ASAP2:NM_001135191:exon25:c.C2665T:p.P889S,ASAP2:NM_003887:exon26:c.C2800T:p.P934S",D,D,D,T,D,T
chr2,158390497,158390497,C,T,P376588_F,ACVR1C,Missense_Mutation,NM_001111033,exon7,c.G944A,p.R315H,SNP,SNVindel,exonic,ACVR1C,NA,nonsynonymous SNV,"ACVR1C:NM_001111033:exon7:c.G944A:p.R315H,ACVR1C:NM_001111032:exon8:c.G1175A:p.R392H,ACVR1C:NM_001111031:exon9:c.G1265A:p.R422H,ACVR1C:NM_145259:exon9:c.G1415A:p.R472H",D,D,D,D,D,D
chr2,176972293,176972293,C,T,P376588_F,HOXD11,Silent,NM_021192,exon1,c.C210T,p.R70R,SNP,SNVindel,exonic,HOXD11,NA,synonymous SNV,HOXD11:NM_021192:exon1:c.C210T:p.R70R,NA,NA,NA,NA,NA,NA
chr2,231077509,231077509,G,A,P376588_F,SP110,Missense_Mutation,NM_004509,exon4,c.C550T,p.P184S,SNP,SNVindel,exonic,SP110,NA,nonsynonymous SNV,"SP110:NM_004509:exon4:c.C550T:p.P184S,SP110:NM_004510:exon4:c.C550T:p.P184S,SP110:NM_080424:exon4:c.C550T:p.P184S,SP110:NM_001185015:exon5:c.C568T:p.P190S",T,N,N,T,D,T
chr3,36897324,36897324,C,T,P376588_F,TRANK1,Missense_Mutation,NM_014831,exon12,c.G3757A,p.V1253M,SNP,SNVindel,exonic,TRANK1,NA,nonsynonymous SNV,"TRANK1:NM_014831:exon12:c.G3757A:p.V1253M,TRANK1:NM_001329998:exon13:c.G3889A:p.V1297M",T,N,N,T,N,T
chr3,37163152,37163152,G,A,P376588_F,LRRFIP2,Missense_Mutation,NM_001282691,exon5,c.C208T,p.R70W,SNP,SNVindel,exonic,LRRFIP2,NA,nonsynonymous SNV,"LRRFIP2:NM_001282691:exon5:c.C208T:p.R70W,LRRFIP2:NM_001348297:exon5:c.C208T:p.R70W,LRRFIP2:NM_001348299:exon5:c.C208T:p.R70W,LRRFIP2:NM_001348300:exon5:c.C208T:p.R70W,LRRFIP2:NM_001348303:exon5:c.C208T:p.R70W,LRRFIP2:NM_006309:exon5:c.C259T:p.R87W,LRRFIP2:NM_001348298:exon6:c.C208T:p.R70W",D,N,D,T,N,T
chr3,133692624,133692624,G,A,P376588_F,SLCO2A1,Missense_Mutation,NM_005630,exon3,c.C280T,p.R94W,SNP,SNVindel,exonic,SLCO2A1,NA,nonsynonymous SNV,SLCO2A1:NM_005630:exon3:c.C280T:p.R94W,D,D,D,T,D,T
chr4,71507862,71507862,C,G,P376588_F,ENAM,Missense_Mutation,NM_001368133,exon2,c.C65G,p.T22R,SNP,SNVindel,exonic,ENAM,NA,nonsynonymous SNV,"ENAM:NM_001368133:exon2:c.C65G:p.T22R,ENAM:NM_031889:exon9:c.C719G:p.T240R",D,N,N,T,D,T
chr4,159520524,159520524,T,A,P376588_F,RXFP1,Silent,NM_001253728,exon3,c.T234A,p.L78L,SNP,SNVindel,exonic,RXFP1,NA,synonymous SNV,"RXFP1:NM_001253728:exon3:c.T234A:p.L78L,RXFP1:NM_001253727:exon4:c.T414A:p.L138L,RXFP1:NM_001253729:exon4:c.T333A:p.L111L,RXFP1:NM_021634:exon4:c.T333A:p.L111L,RXFP1:NM_001363776:exon5:c.T90A:p.L30L",NA,NA,NA,NA,NA,NA
chr5,14507245,14507245,G,A,P376588_F,TRIO,Missense_Mutation,NM_007118,exon56,c.G8627A,p.R2876H,SNP,SNVindel,exonic,TRIO,NA,nonsynonymous SNV,TRIO:NM_007118:exon56:c.G8627A:p.R2876H,D,D,D,T,D,T
chr5,35876342,35876342,C,T,P376588_F,IL7R,Silent,NM_002185,exon8,c.C1134T,p.D378D,SNP,SNVindel,exonic,IL7R,NA,synonymous SNV,IL7R:NM_002185:exon8:c.C1134T:p.D378D,NA,NA,NA,NA,NA,NA
chr5,36976356,36976356,G,A,P376588_F,NIPBL,Silent,NM_015384,exon9,c.G1347A,p.Q449Q,SNP,SNVindel,exonic,NIPBL,NA,synonymous SNV,"NIPBL:NM_015384:exon9:c.G1347A:p.Q449Q,NIPBL:NM_133433:exon9:c.G1347A:p.Q449Q",NA,NA,NA,NA,NA,NA
chr5,140207965,140207965,G,C,P376588_F,PCDHA6,Missense_Mutation,NM_018909,exon1,c.G289C,p.G97R,SNP,SNVindel,exonic,PCDHA6,NA,nonsynonymous SNV,"PCDHA6:NM_018909:exon1:c.G289C:p.G97R,PCDHA6:NM_031848:exon1:c.G289C:p.G97R,PCDHA6:NM_031849:exon1:c.G289C:p.G97R",T,U,D,T,D,T
chr5,171296744,171296744,G,A,P376588_F,FBXW11,Missense_Mutation,NM_033645,exon10,c.C1354T,p.R452C,SNP,SNVindel,exonic,FBXW11,NA,nonsynonymous SNV,"FBXW11:NM_033645:exon10:c.C1354T:p.R452C,FBXW11:NM_012300:exon11:c.C1456T:p.R486C,FBXW11:NM_033644:exon11:c.C1417T:p.R473C",T,D,D,T,D,T
chr6,10876691,10876691,G,A,P376588_F,GCM2,Missense_Mutation,NM_004752,exon3,c.C443T,p.A148V,SNP,SNVindel,exonic,GCM2,NA,nonsynonymous SNV,GCM2:NM_004752:exon3:c.C443T:p.A148V,T,D,D,T,N,T
chr6,27278227,27278227,G,C,P376588_F,POM121L2,Missense_Mutation,NM_033482,exon1,c.C1723G,p.P575A,SNP,SNVindel,exonic,POM121L2,NA,nonsynonymous SNV,POM121L2:NM_033482:exon1:c.C1723G:p.P575A,D,N,N,T,D,T
chr6,137527335,137527335,G,A,P376588_F,IFNGR1,Missense_Mutation,NM_000416,exon3,c.C311T,p.A104V,SNP,SNVindel,exonic,IFNGR1,NA,nonsynonymous SNV,"IFNGR1:NM_000416:exon3:c.C311T:p.A104V,IFNGR1:NM_001363527:exon3:c.C188T:p.A63V,IFNGR1:NM_001363526:exon4:c.C281T:p.A94V",T,N,D,D,D,D
chr6,146870690,146870690,T,A,P376588_F,RAB32,Missense_Mutation,NM_006834,exon2,c.T341A,p.F114Y,SNP,SNVindel,exonic,RAB32,NA,nonsynonymous SNV,RAB32:NM_006834:exon2:c.T341A:p.F114Y,D,D,D,T,D,D
chr7,1524987,1524987,T,C,P376588_F,INTS1,Missense_Mutation,NM_001080453,exon23,c.A3095G,p.D1032G,SNP,SNVindel,exonic,INTS1,NA,nonsynonymous SNV,INTS1:NM_001080453:exon23:c.A3095G:p.D1032G,T,D,D,T,D,T
chr7,5540770,5540770,G,A,P376588_F,FBXL18,Missense_Mutation,NM_001321213,exon3,c.C1130T,p.T377I,SNP,SNVindel,exonic,FBXL18,NA,nonsynonymous SNV,"FBXL18:NM_001321213:exon3:c.C1130T:p.T377I,FBXL18:NM_001363441:exon3:c.C1130T:p.T377I,FBXL18:NM_001363442:exon3:c.C1130T:p.T377I,FBXL18:NM_001367780:exon3:c.C830T:p.T277I,FBXL18:NM_001367781:exon3:c.C830T:p.T277I,FBXL18:NM_024963:exon3:c.C1130T:p.T377I",D,N,N,T,N,T
chr7,50611606,50611606,C,T,P376588_F,DDC,Missense_Mutation,NM_000790,exon2,c.G178A,p.V60I,SNP,SNVindel,exonic,DDC,NA,nonsynonymous SNV,"DDC:NM_000790:exon2:c.G178A:p.V60I,DDC:NM_001082971:exon2:c.G178A:p.V60I,DDC:NM_001242886:exon2:c.G178A:p.V60I,DDC:NM_001242887:exon2:c.G178A:p.V60I,DDC:NM_001242888:exon2:c.G178A:p.V60I,DDC:NM_001242889:exon2:c.G178A:p.V60I,DDC:NM_001242890:exon2:c.G178A:p.V60I",T,N,N,T,N,T
chr7,82996970,82996970,G,A,P376588_F,SEMA3E,Missense_Mutation,NM_001178129,exon17,c.C2080T,p.P694S,SNP,SNVindel,exonic,SEMA3E,NA,nonsynonymous SNV,"SEMA3E:NM_001178129:exon17:c.C2080T:p.P694S,SEMA3E:NM_012431:exon17:c.C2260T:p.P754S",T,U,D,T,N,T
chr7,107718655,107718655,G,T,P376588_F,LAMB4,Missense_Mutation,NM_001318046,exon16,c.C1994A,p.A665E,SNP,SNVindel,exonic,LAMB4,NA,nonsynonymous SNV,"LAMB4:NM_001318046:exon16:c.C1994A:p.A665E,LAMB4:NM_001318047:exon16:c.C1994A:p.A665E,LAMB4:NM_001318048:exon16:c.C1994A:p.A665E,LAMB4:NM_007356:exon16:c.C1994A:p.A665E",D,N,D,T,N,T
chr7,138982538,138982538,G,A,P376588_F,UBN2,Missense_Mutation,NM_173569,exon18,c.G4000A,p.G1334S,SNP,SNVindel,exonic,UBN2,NA,nonsynonymous SNV,UBN2:NM_173569:exon18:c.G4000A:p.G1334S,T,D,D,T,N,T
chr7,148456688,148456688,A,G,P376588_F,CUL1,Missense_Mutation,NM_001370660,exon6,c.A583G,p.T195A,SNP,SNVindel,exonic,CUL1,NA,nonsynonymous SNV,"CUL1:NM_001370660:exon6:c.A583G:p.T195A,CUL1:NM_001370661:exon6:c.A583G:p.T195A,CUL1:NM_001370662:exon6:c.A583G:p.T195A,CUL1:NM_001370663:exon6:c.A583G:p.T195A,CUL1:NM_001370664:exon6:c.A583G:p.T195A,CUL1:NM_003592:exon6:c.A583G:p.T195A",T,D,D,T,D,T
chr8,42805595,42805595,A,G,P376588_F,HOOK3,Silent,NM_032410,exon6,c.A465G,p.Q155Q,SNP,SNVindel,exonic,HOOK3,NA,synonymous SNV,HOOK3:NM_032410:exon6:c.A465G:p.Q155Q,NA,NA,NA,NA,NA,NA
chr8,65527712,65527712,G,A,P376588_F,CYP7B1,Missense_Mutation,NM_001324112,exon4,c.C928T,p.R310W,SNP,SNVindel,exonic,CYP7B1,NA,nonsynonymous SNV,"CYP7B1:NM_001324112:exon4:c.C928T:p.R310W,CYP7B1:NM_004820:exon4:c.C928T:p.R310W",D,N,N,T,D,D
chr8,98289482,98289482,C,T,P376588_F,TSPYL5,Silent,NM_033512,exon1,c.G591A,p.A197A,SNP,SNVindel,exonic,TSPYL5,NA,synonymous SNV,TSPYL5:NM_033512:exon1:c.G591A:p.A197A,NA,NA,NA,NA,NA,NA
chr8,144808544,144808544,G,A,P376588_F,FAM83H,Silent,NM_198488,exon5,c.C3087T,p.N1029N,SNP,SNVindel,exonic,FAM83H,NA,synonymous SNV,FAM83H:NM_198488:exon5:c.C3087T:p.N1029N,NA,NA,NA,NA,NA,NA
chr9,21187003,21187003,C,A,P376588_F,IFNA4,Silent,NM_021068,exon1,c.G528T,p.S176S,SNP,SNVindel,exonic,IFNA4,NA,synonymous SNV,IFNA4:NM_021068:exon1:c.G528T:p.S176S,NA,NA,NA,NA,NA,NA
chr9,104375805,104375805,G,A,P376588_F,GRIN3A,Silent,NM_133445,exon6,c.C2619T,p.Y873Y,SNP,SNVindel,exonic,GRIN3A,NA,synonymous SNV,GRIN3A:NM_133445:exon6:c.C2619T:p.Y873Y,NA,NA,NA,NA,NA,NA
chr9,105765528,105765528,C,T,P376588_F,CYLC2,Missense_Mutation,NM_001340,exon3,c.C163T,p.R55W,SNP,SNVindel,exonic,CYLC2,NA,nonsynonymous SNV,CYLC2:NM_001340:exon3:c.C163T:p.R55W,D,N,N,T,D,T
chr11,290466,290466,C,T,P376588_F,PGGHG,Silent,NM_025092,exon3,c.C336T,p.H112H,SNP,SNVindel,exonic,PGGHG,NA,synonymous SNV,PGGHG:NM_025092:exon3:c.C336T:p.H112H,NA,NA,NA,NA,NA,NA
chr11,18637630,18637630,C,A,P376588_F,SPTY2D1,Missense_Mutation,NM_194285,exon3,c.G191T,p.R64M,SNP,SNVindel,exonic,SPTY2D1,NA,nonsynonymous SNV,SPTY2D1:NM_194285:exon3:c.G191T:p.R64M,D,D,D,T,D,T
chr11,60694754,60694754,G,A,P376588_F,TMEM132A,Missense_Mutation,NM_017870,exon2,c.G179A,p.R60H,SNP,SNVindel,exonic,TMEM132A,NA,nonsynonymous SNV,"TMEM132A:NM_017870:exon2:c.G179A:p.R60H,TMEM132A:NM_178031:exon2:c.G179A:p.R60H",D,N,D,T,N,T
chr11,61040676,61040676,G,A,P376588_F,VWCE,Missense_Mutation,NM_152718,exon13,c.C1694T,p.S565L,SNP,SNVindel,exonic,VWCE,NA,nonsynonymous SNV,VWCE:NM_152718:exon13:c.C1694T:p.S565L,T,N,N,T,N,T
chr11,122805524,122805524,G,A,P376588_F,JHY,Missense_Mutation,NM_001363088,exon4,c.G1261A,p.G421R,SNP,SNVindel,exonic,JHY,NA,nonsynonymous SNV,"JHY:NM_001363088:exon4:c.G1261A:p.G421R,JHY:NM_001363087:exon5:c.G1375A:p.G459R,JHY:NM_001363089:exon5:c.G1375A:p.G459R,JHY:NM_024806:exon5:c.G1375A:p.G459R",T,N,N,T,N,T
chr12,1995149,1995149,C,T,P376588_F,CACNA2D4,Silent,NM_172364,exon9,c.G1050A,p.A350A,SNP,SNVindel,exonic,CACNA2D4,NA,synonymous SNV,CACNA2D4:NM_172364:exon9:c.G1050A:p.A350A,NA,NA,NA,NA,NA,NA
chr12,40874541,40874541,G,T,P376588_F,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,58023737,58023737,C,T,P376588_F,B4GALNT1,Missense_Mutation,NM_001276469,exon6,c.G910A,p.A304T,SNP,SNVindel,exonic,B4GALNT1,NA,nonsynonymous SNV,B4GALNT1:NM_001276469:exon6:c.G910A:p.A304T,D,.,D,T,N,T
chr12,112182490,112182490,C,T,P376588_F,ACAD10,Silent,NM_025247,exon13,c.C1758T,p.T586T,SNP,SNVindel,exonic,ACAD10,NA,synonymous SNV,"ACAD10:NM_025247:exon13:c.C1758T:p.T586T,ACAD10:NM_001136538:exon14:c.C1851T:p.T617T",NA,NA,NA,NA,NA,NA
chr12,120628164,120628164,T,C,P376588_F,GCN1,Missense_Mutation,NM_006836,exon2,c.A58G,p.T20A,SNP,SNVindel,exonic,GCN1,NA,nonsynonymous SNV,GCN1:NM_006836:exon2:c.A58G:p.T20A,D,D,D,T,N,T
chr13,23777975,23777975,G,A,P376588_F,SGCG,Missense_Mutation,NM_000231,exon2,c.G142A,p.V48I,SNP,SNVindel,exonic,SGCG,NA,nonsynonymous SNV,SGCG:NM_000231:exon2:c.G142A:p.V48I,T,D,D,D,N,T
chr13,25356007,25356007,C,T,P376588_F,RNF17,Missense_Mutation,NM_001184993,exon6,c.C536T,p.T179M,SNP,SNVindel,exonic,RNF17,NA,nonsynonymous SNV,"RNF17:NM_001184993:exon6:c.C536T:p.T179M,RNF17:NM_031277:exon6:c.C536T:p.T179M",D,N,N,T,N,T
chr13,101184633,101184633,G,A,P376588_F,GGACT,Silent,NM_033110,exon2,c.C213T,p.D71D,SNP,SNVindel,exonic,GGACT,NA,synonymous SNV,"GGACT:NM_033110:exon2:c.C213T:p.D71D,GGACT:NM_001195087:exon3:c.C213T:p.D71D",NA,NA,NA,NA,NA,NA
chr13,113761211,113761211,G,A,P376588_F,F7,Silent,NM_000131,exon2,c.G117A,p.P39P,SNP,SNVindel,exonic,F7,NA,synonymous SNV,F7:NM_000131:exon2:c.G117A:p.P39P,NA,NA,NA,NA,NA,NA
chr14,44974051,44974051,C,T,P376588_F,FSCB,Missense_Mutation,NM_032135,exon1,c.G2140A,p.V714I,SNP,SNVindel,exonic,FSCB,NA,nonsynonymous SNV,FSCB:NM_032135:exon1:c.G2140A:p.V714I,T,.,N,T,N,T
chr14,88654445,88654445,C,T,P376588_F,KCNK10,Missense_Mutation,NM_021161,exon6,c.G862A,p.A288T,SNP,SNVindel,exonic,KCNK10,NA,nonsynonymous SNV,"KCNK10:NM_021161:exon6:c.G862A:p.A288T,KCNK10:NM_138317:exon6:c.G877A:p.A293T,KCNK10:NM_138318:exon6:c.G877A:p.A293T",T,N,D,T,N,T
chr15,33446572,33446572,G,A,P376588_F,FMN1,Missense_Mutation,NM_001277313,exon4,c.C544T,p.R182C,SNP,SNVindel,exonic,FMN1,NA,nonsynonymous SNV,"FMN1:NM_001277313:exon4:c.C544T:p.R182C,FMN1:NM_001277314:exon4:c.C544T:p.R182C",D,N,.,T,D,T
chr15,64015518,64015518,G,T,P376588_F,HERC1,Missense_Mutation,NM_003922,exon19,c.C3605A,p.S1202Y,SNP,SNVindel,exonic,HERC1,NA,nonsynonymous SNV,HERC1:NM_003922:exon19:c.C3605A:p.S1202Y,T,U,D,T,N,T
chr15,79606269,79606269,C,T,P376588_F,TMED3,Silent,NM_001301203,exon2,c.C339T,p.T113T,SNP,SNVindel,exonic,TMED3,NA,synonymous SNV,"TMED3:NM_001301203:exon2:c.C339T:p.T113T,TMED3:NM_001330376:exon2:c.C339T:p.T113T,TMED3:NM_001363735:exon2:c.C339T:p.T113T,TMED3:NM_007364:exon2:c.C339T:p.T113T",NA,NA,NA,NA,NA,NA
chr16,31286916,31286916,C,T,P376588_F,ITGAM,Missense_Mutation,NM_000632,exon9,c.C905T,p.T302I,SNP,SNVindel,exonic,ITGAM,NA,nonsynonymous SNV,"ITGAM:NM_000632:exon9:c.C905T:p.T302I,ITGAM:NM_001145808:exon9:c.C905T:p.T302I",T,.,N,D,D,T
chr16,56481897,56481897,G,A,P376588_F,NUDT21,Missense_Mutation,NM_007006,exon2,c.C121T,p.P41S,SNP,SNVindel,exonic,NUDT21,NA,nonsynonymous SNV,NUDT21:NM_007006:exon2:c.C121T:p.P41S,D,D,D,.,D,T
chr16,75276907,75276907,C,T,P376588_F,BCAR1,Missense_Mutation,NM_001170715,exon2,c.G148A,p.V50M,SNP,SNVindel,exonic,BCAR1,NA,nonsynonymous SNV,"BCAR1:NM_001170715:exon2:c.G148A:p.V50M,BCAR1:NM_001170716:exon2:c.G148A:p.V50M,BCAR1:NM_001170717:exon2:c.G94A:p.V32M,BCAR1:NM_001170718:exon2:c.G94A:p.V32M,BCAR1:NM_001170719:exon2:c.G88A:p.V30M,BCAR1:NM_014567:exon2:c.G94A:p.V32M,BCAR1:NM_001170714:exon3:c.G232A:p.V78M,BCAR1:NM_001170720:exon3:c.G94A:p.V32M",D,D,D,T,D,D
chr17,35825723,35825723,G,A,P376588_F,TADA2A,Missense_Mutation,NM_001291918,exon11,c.G901A,p.V301M,SNP,SNVindel,exonic,TADA2A,NA,nonsynonymous SNV,"TADA2A:NM_001291918:exon11:c.G901A:p.V301M,TADA2A:NM_133439:exon11:c.G901A:p.V301M",.,.,N,.,.,T
chr17,39262047,39262047,A,G,P376588_F,KRTAP4-9,Missense_Mutation,NM_001146041,exon1,c.A407G,p.K136R,SNP,SNVindel,exonic,KRTAP4-9;LOC100996750,NA,nonsynonymous SNV,"KRTAP4-9:NM_001146041:exon1:c.A407G:p.K136R,LOC100996750:NM_001365252:exon2:c.A392G:p.K131R",T,N,N,T,N,T
chr17,42155751,42155751,G,A,P376588_F,HDAC5,Missense_Mutation,NM_001015053,exon27,c.C3365T,p.A1122V,SNP,SNVindel,exonic,HDAC5,NA,nonsynonymous SNV,"HDAC5:NM_001015053:exon27:c.C3365T:p.A1122V,HDAC5:NM_005474:exon27:c.C3362T:p.A1121V",T,N,N,T,N,T
chr18,14105126,14105126,C,T,P376588_F,ZNF519,Nonsense_Mutation,NM_145287,exon3,c.G1413A,p.W471X,SNP,SNVindel,exonic,ZNF519,NA,stopgain,ZNF519:NM_145287:exon3:c.G1413A:p.W471X,.,.,D,.,.,.
chr18,77917703,77917703,G,A,P376588_F,PARD6G,Missense_Mutation,NM_032510,exon3,c.C1082T,p.A361V,SNP,SNVindel,exonic,PARD6G,NA,nonsynonymous SNV,PARD6G:NM_032510:exon3:c.C1082T:p.A361V,T,N,N,T,N,T
chr19,42862321,42862321,C,G,P376588_F,MEGF8,Nonsense_Mutation,NM_001410,exon28,c.C4836G,p.Y1612X,SNP,SNVindel,exonic,MEGF8,NA,stopgain,"MEGF8:NM_001410:exon28:c.C4836G:p.Y1612X,MEGF8:NM_001271938:exon29:c.C5037G:p.Y1679X",.,D,A,.,.,.
chr19,49550972,49550972,G,C,P376588_F,CGB8,Silent,NM_033183,exon3,c.C438G,p.P146P,SNP,SNVindel,exonic,CGB8,NA,synonymous SNV,CGB8:NM_033183:exon3:c.C438G:p.P146P,NA,NA,NA,NA,NA,NA
chr19,50944288,50944288,C,T,P376588_F,MYBPC2,Silent,NM_004533,exon8,c.C724T,p.L242L,SNP,SNVindel,exonic,MYBPC2,NA,synonymous SNV,MYBPC2:NM_004533:exon8:c.C724T:p.L242L,NA,NA,NA,NA,NA,NA
chr19,54968056,54968056,C,T,P376588_F,LENG8,Missense_Mutation,NM_052925,exon11,c.C1687T,p.R563C,SNP,SNVindel,exonic,LENG8,NA,nonsynonymous SNV,LENG8:NM_052925:exon11:c.C1687T:p.R563C,D,D,D,T,D,D
chr20,1558985,1558985,G,A,P376588_F,SIRPB1,Silent,NM_001083910,exon2,c.C432T,p.R144R,SNP,SNVindel,exonic,SIRPB1,NA,synonymous SNV,"SIRPB1:NM_001083910:exon2:c.C432T:p.R144R,SIRPB1:NM_001330639:exon2:c.C429T:p.R143R,SIRPB1:NM_006065:exon2:c.C432T:p.R144R",NA,NA,NA,NA,NA,NA
chr22,31336802,31336802,G,A,P376588_F,MORC2,Missense_Mutation,NM_001303256,exon10,c.C847T,p.R283C,SNP,SNVindel,exonic,MORC2,NA,nonsynonymous SNV,"MORC2:NM_001303256:exon10:c.C847T:p.R283C,MORC2:NM_001303257:exon10:c.C847T:p.R283C,MORC2:NM_014941:exon11:c.C661T:p.R221C",D,D,D,T,D,T
chr22,44585083,44585083,G,A,P376588_F,PARVG,Missense_Mutation,NM_001137605,exon6,c.G337A,p.V113M,SNP,SNVindel,exonic,PARVG,NA,nonsynonymous SNV,"PARVG:NM_001137605:exon6:c.G337A:p.V113M,PARVG:NM_022141:exon6:c.G337A:p.V113M",D,N,N,T,N,T
chrX,152226074,152226074,G,A,P376588_F,PNMA3,Missense_Mutation,NM_001282535,exon2,c.G662A,p.R221Q,SNP,SNVindel,exonic,PNMA3,NA,nonsynonymous SNV,"PNMA3:NM_001282535:exon2:c.G662A:p.R221Q,PNMA3:NM_013364:exon2:c.G662A:p.R221Q",.,.,N,T,.,T
chr1,1420466,1420466,T,A,P376588_S,ATAD3B,Missense_Mutation,NM_001317238,exon6,c.T683A,p.F228Y,SNP,SNVindel,exonic,ATAD3B,NA,nonsynonymous SNV,"ATAD3B:NM_001317238:exon6:c.T683A:p.F228Y,ATAD3B:NM_031921:exon8:c.T821A:p.F274Y",T,N,N,D,N,T
chr1,144815953,144815953,A,G,P376588_S,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr2,74437118,74437118,C,T,P376588_S,MTHFD2,Silent,NM_006636,exon5,c.C612T,p.N204N,SNP,SNVindel,exonic,MTHFD2,NA,synonymous SNV,MTHFD2:NM_006636:exon5:c.C612T:p.N204N,NA,NA,NA,NA,NA,NA
chr3,133692624,133692624,G,A,P376588_S,SLCO2A1,Missense_Mutation,NM_005630,exon3,c.C280T,p.R94W,SNP,SNVindel,exonic,SLCO2A1,NA,nonsynonymous SNV,SLCO2A1:NM_005630:exon3:c.C280T:p.R94W,D,D,D,T,D,T
chr3,195509641,195509641,A,G,P376588_S,MUC4,Missense_Mutation,NM_018406,exon2,c.T8810C,p.V2937A,SNP,SNVindel,exonic,MUC4,NA,nonsynonymous SNV,MUC4:NM_018406:exon2:c.T8810C:p.V2937A,T,.,N,T,N,T
chr7,55270264,55270264,C,T,P376588_S,EGFR,Missense_Mutation,NM_001346941,exon21,c.C2416T,p.P806S,SNP,SNVindel,exonic,EGFR,NA,nonsynonymous SNV,"EGFR:NM_001346941:exon21:c.C2416T:p.P806S,EGFR:NM_001346897:exon26:c.C3082T:p.P1028S,EGFR:NM_001346899:exon26:c.C3082T:p.P1028S,EGFR:NM_001346898:exon27:c.C3217T:p.P1073S,EGFR:NM_001346900:exon27:c.C3058T:p.P1020S,EGFR:NM_005228:exon27:c.C3217T:p.P1073S",T,D,D,T,D,D
chr7,138982538,138982538,G,A,P376588_S,UBN2,Missense_Mutation,NM_173569,exon18,c.G4000A,p.G1334S,SNP,SNVindel,exonic,UBN2,NA,nonsynonymous SNV,UBN2:NM_173569:exon18:c.G4000A:p.G1334S,T,D,D,T,N,T
chr9,21187003,21187003,C,A,P376588_S,IFNA4,Silent,NM_021068,exon1,c.G528T,p.S176S,SNP,SNVindel,exonic,IFNA4,NA,synonymous SNV,IFNA4:NM_021068:exon1:c.G528T:p.S176S,NA,NA,NA,NA,NA,NA
chr9,33541216,33541216,G,C,P376588_S,ANKRD18B,Missense_Mutation,NM_001353432,exon7,c.G880C,p.G294R,SNP,SNVindel,exonic,ANKRD18B,NA,nonsynonymous SNV,ANKRD18B:NM_001353432:exon7:c.G880C:p.G294R,T,.,.,T,N,T
chr9,124989159,124989159,C,T,P376588_S,LHX6,Missense_Mutation,NM_001242334,exon2,c.G220A,p.G74S,SNP,SNVindel,exonic,LHX6,NA,nonsynonymous SNV,"LHX6:NM_001242334:exon2:c.G220A:p.G74S,LHX6:NM_001348190:exon2:c.G220A:p.G74S,LHX6:NM_001242333:exon3:c.G274A:p.G92S,LHX6:NM_014368:exon3:c.G307A:p.G103S,LHX6:NM_199160:exon3:c.G307A:p.G103S",D,D,D,D,D,D
chr9,133246471,133246471,G,A,P376588_S,HMCN2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,HMCN2,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr10,88992571,88992571,G,A,P376588_S,NUTM2A,Silent,NM_001099338,exon5,c.G1563A,p.V521V,SNP,SNVindel,exonic,NUTM2A,NA,synonymous SNV,NUTM2A:NM_001099338:exon5:c.G1563A:p.V521V,NA,NA,NA,NA,NA,NA
chr12,50186268,50186268,G,A,P376588_S,NCKAP5L,Silent,NM_001037806,exon12,c.C3753T,p.C1251C,SNP,SNVindel,exonic,NCKAP5L,NA,synonymous SNV,"NCKAP5L:NM_001037806:exon12:c.C3753T:p.C1251C,NCKAP5L:NM_001368048:exon13:c.C3753T:p.C1251C",NA,NA,NA,NA,NA,NA
chr12,120628164,120628164,T,C,P376588_S,GCN1,Missense_Mutation,NM_006836,exon2,c.A58G,p.T20A,SNP,SNVindel,exonic,GCN1,NA,nonsynonymous SNV,GCN1:NM_006836:exon2:c.A58G:p.T20A,D,D,D,T,N,T
chr16,29857485,29857485,C,T,P376588_S,MVP,Silent,NM_001293205,exon11,c.C1947T,p.A649A,SNP,SNVindel,exonic,MVP,NA,synonymous SNV,"MVP:NM_001293205:exon11:c.C1947T:p.A649A,MVP:NM_001293204:exon12:c.C2145T:p.A715A,MVP:NM_005115:exon13:c.C2145T:p.A715A,MVP:NM_017458:exon13:c.C2145T:p.A715A",NA,NA,NA,NA,NA,NA
chr16,58030855,58030855,G,A,P376588_S,ZNF319,Missense_Mutation,NM_020807,exon2,c.C1315T,p.R439C,SNP,SNVindel,exonic,ZNF319,NA,nonsynonymous SNV,ZNF319:NM_020807:exon2:c.C1315T:p.R439C,D,D,D,T,D,T
chr16,69660389,69660389,G,A,P376588_S,NFAT5,Missense_Mutation,NM_006599,exon2,c.G157A,p.G53S,SNP,SNVindel,exonic,NFAT5,NA,nonsynonymous SNV,"NFAT5:NM_006599:exon2:c.G157A:p.G53S,NFAT5:NM_001113178:exon3:c.G211A:p.G71S,NFAT5:NM_138713:exon3:c.G211A:p.G71S",D,.,D,T,N,T
chr17,16120737,16120737,G,A,P376588_S,PIGL,Missense_Mutation,NM_004278,exon1,c.G197A,p.R66H,SNP,SNVindel,exonic,PIGL,NA,nonsynonymous SNV,PIGL:NM_004278:exon1:c.G197A:p.R66H,D,N,D,T,D,D
chr18,6999634,6999634,G,A,P376588_S,LAMA1,Silent,NM_005559,exon32,c.C4473T,p.C1491C,SNP,SNVindel,exonic,LAMA1,NA,synonymous SNV,LAMA1:NM_005559:exon32:c.C4473T:p.C1491C,NA,NA,NA,NA,NA,NA
chr19,42463048,42463048,G,A,P376588_S,RABAC1,Missense_Mutation,NM_006423,exon2,c.C109T,p.R37W,SNP,SNVindel,exonic,RABAC1,NA,nonsynonymous SNV,RABAC1:NM_006423:exon2:c.C109T:p.R37W,D,D,D,T,D,T
chr19,45855589,45855589,G,A,P376588_S,ERCC2,Missense_Mutation,NM_000400,exon22,c.C2068T,p.R690W,SNP,SNVindel,exonic,ERCC2,NA,nonsynonymous SNV,ERCC2:NM_000400:exon22:c.C2068T:p.R690W,D,D,D,D,D,D
chr19,45867575,45867575,C,T,P376588_S,ERCC2,Missense_Mutation,NM_001130867,exon8,c.G661A,p.D221N,SNP,SNVindel,exonic,ERCC2,NA,nonsynonymous SNV,"ERCC2:NM_001130867:exon8:c.G661A:p.D221N,ERCC2:NM_000400:exon9:c.G733A:p.D245N",D,D,D,T,N,D
chr19,51920196,51920196,G,T,P376588_S,SIGLEC10,Missense_Mutation,NM_001171157,exon3,c.C430A,p.Q144K,SNP,SNVindel,exonic,SIGLEC10,NA,nonsynonymous SNV,"SIGLEC10:NM_001171157:exon3:c.C430A:p.Q144K,SIGLEC10:NM_001322105:exon3:c.C430A:p.Q144K,SIGLEC10:NM_033130:exon3:c.C430A:p.Q144K",T,N,N,T,N,T
chr21,46020542,46020542,T,C,P376588_S,KRTAP10-7,Silent,NM_198689,exon1,c.T21C,p.S7S,SNP,SNVindel,exonic,KRTAP10-7,NA,synonymous SNV,KRTAP10-7:NM_198689:exon1:c.T21C:p.S7S,NA,NA,NA,NA,NA,NA
chrX,144904063,144904063,C,T,P376588_S,SLITRK2,Silent,NM_001144009,exon2,c.C120T,p.N40N,SNP,SNVindel,exonic,SLITRK2,NA,synonymous SNV,"SLITRK2:NM_001144009:exon2:c.C120T:p.N40N,SLITRK2:NM_001144006:exon3:c.C120T:p.N40N,SLITRK2:NM_001144008:exon3:c.C120T:p.N40N,SLITRK2:NM_001144010:exon3:c.C120T:p.N40N,SLITRK2:NM_001144003:exon5:c.C120T:p.N40N,SLITRK2:NM_001144004:exon5:c.C120T:p.N40N,SLITRK2:NM_001144005:exon5:c.C120T:p.N40N,SLITRK2:NM_032539:exon5:c.C120T:p.N40N",NA,NA,NA,NA,NA,NA
chrX,152226074,152226074,G,A,P376588_S,PNMA3,Missense_Mutation,NM_001282535,exon2,c.G662A,p.R221Q,SNP,SNVindel,exonic,PNMA3,NA,nonsynonymous SNV,"PNMA3:NM_001282535:exon2:c.G662A:p.R221Q,PNMA3:NM_013364:exon2:c.G662A:p.R221Q",.,.,N,T,.,T
chr1,20991152,20991152,G,A,P379846_F,KIF17,Silent,NM_001122819,exon15,c.C3012T,p.L1004L,SNP,SNVindel,exonic,KIF17,NA,synonymous SNV,"KIF17:NM_001122819:exon15:c.C3012T:p.L1004L,KIF17:NM_001287212:exon15:c.C2715T:p.L905L,KIF17:NM_020816:exon15:c.C3015T:p.L1005L",NA,NA,NA,NA,NA,NA
chr1,47282802,47282802,C,T,P379846_F,CYP4B1,Missense_Mutation,NM_001319162,exon7,c.C667T,p.R223C,SNP,SNVindel,exonic,CYP4B1,NA,nonsynonymous SNV,"CYP4B1:NM_001319162:exon7:c.C667T:p.R223C,CYP4B1:NM_001319163:exon7:c.C664T:p.R222C,CYP4B1:NM_001319161:exon8:c.C1111T:p.R371C,CYP4B1:NM_000779:exon9:c.C1153T:p.R385C,CYP4B1:NM_001099772:exon9:c.C1156T:p.R386C",D,N,D,D,D,D
chr1,70904459,70904459,G,C,P379846_F,CTH,Missense_Mutation,NM_001190463,exon10,c.G1045C,p.E349Q,SNP,SNVindel,exonic,CTH,NA,nonsynonymous SNV,"CTH:NM_001190463:exon10:c.G1045C:p.E349Q,CTH:NM_153742:exon10:c.G1009C:p.E337Q,CTH:NM_001902:exon11:c.G1141C:p.E381Q",D,D,D,D,D,D
chr1,145296448,145296448,T,A,P379846_F,NBPF10,Missense_Mutation,NM_001039703,exon3,c.T370A,p.Y124N,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon3:c.T370A:p.Y124N,NBPF10:NM_001302371:exon3:c.T370A:p.Y124N",NA,NA,NA,NA,NA,NA
chr1,170961469,170961469,C,T,P379846_F,MROH9,Missense_Mutation,NM_001163629,exon12,c.C1193T,p.A398V,SNP,SNVindel,exonic,MROH9,NA,nonsynonymous SNV,"MROH9:NM_001163629:exon12:c.C1193T:p.A398V,MROH9:NM_025063:exon12:c.C1193T:p.A398V",T,D,N,T,D,T
chr1,179620015,179620015,C,T,P379846_F,TDRD5,Missense_Mutation,NM_001199092,exon9,c.C479T,p.S160L,SNP,SNVindel,exonic,TDRD5,NA,nonsynonymous SNV,"TDRD5:NM_001199092:exon9:c.C479T:p.S160L,TDRD5:NM_001199085:exon12:c.C1814T:p.S605L,TDRD5:NM_001199089:exon12:c.C1814T:p.S605L,TDRD5:NM_001199091:exon12:c.C1814T:p.S605L,TDRD5:NM_001349923:exon12:c.C1814T:p.S605L,TDRD5:NM_173533:exon12:c.C1814T:p.S605L",T,N,N,T,N,T
chr1,201172920,201172920,C,T,P379846_F,IGFN1,Missense_Mutation,NM_001164586,exon10,c.C802T,p.R268W,SNP,SNVindel,exonic,IGFN1,NA,nonsynonymous SNV,"IGFN1:NM_001164586:exon10:c.C802T:p.R268W,IGFN1:NM_001367841:exon10:c.C802T:p.R268W",D,.,D,T,N,T
chr1,225704931,225704931,C,T,P379846_F,ENAH,Missense_Mutation,NM_001008493,exon6,c.G880A,p.A294T,SNP,SNVindel,exonic,ENAH,NA,nonsynonymous SNV,"ENAH:NM_001008493:exon6:c.G880A:p.A294T,ENAH:NM_018212:exon6:c.G880A:p.A294T",D,N,D,D,N,D
chr2,181925474,181925474,G,A,P379846_F,UBE2E3,Missense_Mutation,NM_001278554,exon5,c.G461A,p.S154N,SNP,SNVindel,exonic,UBE2E3,NA,nonsynonymous SNV,"UBE2E3:NM_001278554:exon5:c.G461A:p.S154N,UBE2E3:NM_001278555:exon5:c.G461A:p.S154N,UBE2E3:NM_006357:exon5:c.G461A:p.S154N,UBE2E3:NM_182678:exon6:c.G461A:p.S154N",D,D,D,T,D,D
chr2,220346063,220346063,C,T,P379846_F,SPEG,Missense_Mutation,NM_005876,exon27,c.C5407T,p.R1803W,SNP,SNVindel,exonic,SPEG,NA,nonsynonymous SNV,SPEG:NM_005876:exon27:c.C5407T:p.R1803W,D,N,D,T,D,T
chr3,58870322,58870322,G,A,P379846_F,C3orf67,Missense_Mutation,NM_001351531,exon6,c.C49T,p.R17C,SNP,SNVindel,exonic,C3orf67,NA,nonsynonymous SNV,"C3orf67:NM_001351531:exon6:c.C49T:p.R17C,C3orf67:NM_001351533:exon7:c.C664T:p.R222C,C3orf67:NM_198463:exon7:c.C289T:p.R97C",D,N,D,T,D,T
chr3,123983351,123983351,C,T,P379846_F,KALRN,Silent,NM_001024660,exon4,c.C264T,p.D88D,SNP,SNVindel,exonic,KALRN,NA,synonymous SNV,"KALRN:NM_001024660:exon4:c.C264T:p.D88D,KALRN:NM_001322988:exon4:c.C264T:p.D88D,KALRN:NM_001322989:exon4:c.C264T:p.D88D,KALRN:NM_001322990:exon4:c.C264T:p.D88D,KALRN:NM_001322991:exon4:c.C264T:p.D88D,KALRN:NM_001322992:exon4:c.C264T:p.D88D,KALRN:NM_003947:exon4:c.C264T:p.D88D",NA,NA,NA,NA,NA,NA
chr3,155551825,155551825,A,G,P379846_F,SLC33A1,Missense_Mutation,NM_001363883,exon2,c.T781C,p.F261L,SNP,SNVindel,exonic,SLC33A1,NA,nonsynonymous SNV,SLC33A1:NM_001363883:exon2:c.T781C:p.F261L,NA,NA,NA,NA,NA,NA
chr3,169540626,169540626,G,A,P379846_F,LRRIQ4,Missense_Mutation,NM_001080460,exon1,c.G917A,p.R306H,SNP,SNVindel,exonic,LRRIQ4,NA,nonsynonymous SNV,LRRIQ4:NM_001080460:exon1:c.G917A:p.R306H,D,N,N,T,D,T
chr4,70512978,70512978,C,T,P379846_F,UGT2A1,Missense_Mutation,NM_001301239,exon1,c.G385A,p.V129I,SNP,SNVindel,exonic,UGT2A1,NA,nonsynonymous SNV,"UGT2A1:NM_001301239:exon1:c.G385A:p.V129I,UGT2A1:NM_001252274:exon2:c.G385A:p.V129I,UGT2A1:NM_001252275:exon2:c.G385A:p.V129I,UGT2A1:NM_006798:exon2:c.G385A:p.V129I",T,D,.,T,N,T
chr4,111470692,111470692,G,A,P379846_F,ENPEP,Missense_Mutation,NM_001977,exon16,c.G2234A,p.R745H,SNP,SNVindel,exonic,ENPEP,NA,nonsynonymous SNV,ENPEP:NM_001977:exon16:c.G2234A:p.R745H,D,D,D,T,D,T
chr4,155506748,155506748,G,A,P379846_F,FGA,Silent,NM_000508,exon5,c.C1833T,p.A611A,SNP,SNVindel,exonic,FGA,NA,synonymous SNV,"FGA:NM_000508:exon5:c.C1833T:p.A611A,FGA:NM_021871:exon5:c.C1833T:p.A611A",.,.,N,.,.,T
chr5,878525,878525,T,A,P379846_F,BRD9,Missense_Mutation,NM_001009877,exon11,c.A1057T,p.M353L,SNP,SNVindel,exonic,BRD9,NA,nonsynonymous SNV,"BRD9:NM_001009877:exon11:c.A1057T:p.M353L,BRD9:NM_001317951:exon11:c.A928T:p.M310L,BRD9:NM_023924:exon11:c.A1216T:p.M406L",T,N,N,T,N,T
chr5,120022106,120022106,G,A,P379846_F,PRR16,Missense_Mutation,NM_001300783,exon2,c.G617A,p.R206Q,SNP,SNVindel,exonic,PRR16,NA,nonsynonymous SNV,"PRR16:NM_001300783:exon2:c.G617A:p.R206Q,PRR16:NM_001308087:exon2:c.G407A:p.R136Q,PRR16:NM_016644:exon3:c.G548A:p.R183Q,PRR16:NM_001308088:exon4:c.G407A:p.R136Q",D,D,D,T,D,T
chr6,42227354,42227354,C,T,P379846_F,TRERF1,Silent,NM_001297573,exon9,c.G2052A,p.P684P,SNP,SNVindel,exonic,TRERF1,NA,synonymous SNV,"TRERF1:NM_001297573:exon9:c.G2052A:p.P684P,TRERF1:NM_033502:exon9:c.G1992A:p.P664P",NA,NA,NA,NA,NA,NA
chr6,62887138,62887138,G,A,P379846_F,KHDRBS2,Silent,NM_001350622,exon2,c.C171T,p.N57N,SNP,SNVindel,exonic,KHDRBS2,NA,synonymous SNV,"KHDRBS2:NM_001350622:exon2:c.C171T:p.N57N,KHDRBS2:NM_152688:exon2:c.C171T:p.N57N",NA,NA,NA,NA,NA,NA
chr6,149068770,149068770,C,T,P379846_F,UST,Silent,NM_005715,exon1,c.C204T,p.S68S,SNP,SNVindel,exonic,UST,NA,synonymous SNV,UST:NM_005715:exon1:c.C204T:p.S68S,NA,NA,NA,NA,NA,NA
chr7,80088106,80088106,C,A,P379846_F,GNAT3,Missense_Mutation,NM_001102386,exon8,c.G946T,p.D316Y,SNP,SNVindel,exonic,GNAT3,NA,nonsynonymous SNV,GNAT3:NM_001102386:exon8:c.G946T:p.D316Y,D,U,D,D,N,D
chr7,117120149,117120149,A,G,P379846_F,CFTR,Translation_Start_Site,NM_000492,exon1,c.A1G,p.M1?,SNP,SNVindel,exonic,CFTR,NA,startloss,CFTR:NM_000492:exon1:c.A1G:p.M1?,D,D,D,D,N,T
chr7,128487758,128487758,G,A,P379846_F,FLNC,Silent,NM_001127487,exon25,c.G4296A,p.P1432P,SNP,SNVindel,exonic,FLNC,NA,synonymous SNV,"FLNC:NM_001127487:exon25:c.G4296A:p.P1432P,FLNC:NM_001458:exon25:c.G4296A:p.P1432P",NA,NA,NA,NA,NA,NA
chr7,141672521,141672521,G,A,P379846_F,TAS2R38,Silent,NM_176817,exon1,c.C969T,p.A323A,SNP,SNVindel,exonic,TAS2R38,NA,synonymous SNV,TAS2R38:NM_176817:exon1:c.C969T:p.A323A,NA,NA,NA,NA,NA,NA
chr8,102555525,102555525,G,A,P379846_F,GRHL2,Missense_Mutation,NM_001330593,exon2,c.G29A,p.R10Q,SNP,SNVindel,exonic,GRHL2,NA,nonsynonymous SNV,"GRHL2:NM_001330593:exon2:c.G29A:p.R10Q,GRHL2:NM_024915:exon2:c.G77A:p.R26Q",T,D,D,T,N,T
chr9,84607496,84607496,G,A,P379846_F,SPATA31D1,Missense_Mutation,NM_001001670,exon4,c.G2111A,p.R704H,SNP,SNVindel,exonic,SPATA31D1,NA,nonsynonymous SNV,SPATA31D1:NM_001001670:exon4:c.G2111A:p.R704H,T,N,N,T,N,T
chr9,131596071,131596071,C,T,P379846_F,KYAT1,Missense_Mutation,NM_001122672,exon11,c.G1007A,p.S336N,SNP,SNVindel,exonic,KYAT1,NA,nonsynonymous SNV,"KYAT1:NM_001122672:exon11:c.G1007A:p.S336N,KYAT1:NM_001122671:exon12:c.G1157A:p.S386N,KYAT1:NM_001352989:exon12:c.G1157A:p.S386N,KYAT1:NM_001352991:exon12:c.G1157A:p.S386N,KYAT1:NM_001352993:exon12:c.G1157A:p.S386N,KYAT1:NM_001352999:exon12:c.G983A:p.S328N,KYAT1:NM_004059:exon12:c.G1157A:p.S386N,KYAT1:NM_001352988:exon13:c.G1157A:p.S386N,KYAT1:NM_001352990:exon13:c.G1157A:p.S386N,KYAT1:NM_001352992:exon13:c.G1157A:p.S386N,KYAT1:NM_001352997:exon13:c.G1259A:p.S420N,KYAT1:NM_001352998:exon13:c.G1259A:p.S420N,KYAT1:NM_001287390:exon14:c.G1439A:p.S480N,KYAT1:NM_001352994:exon14:c.G1439A:p.S480N,KYAT1:NM_001352995:exon14:c.G1436A:p.S479N,KYAT1:NM_001352996:exon14:c.G1436A:p.S479N",T,D,D,D,N,D
chr9,136509387,136509387,G,A,P379846_F,DBH,Silent,NM_000787,exon5,c.G969A,p.G323G,SNP,SNVindel,exonic,DBH,NA,synonymous SNV,DBH:NM_000787:exon5:c.G969A:p.G323G,NA,NA,NA,NA,NA,NA
chr9,138439090,138439090,C,T,P379846_F,OBP2A,Missense_Mutation,NM_001293193,exon2,c.C139T,p.R47C,SNP,SNVindel,exonic,OBP2A,NA,nonsynonymous SNV,OBP2A:NM_001293193:exon2:c.C139T:p.R47C,T,.,N,T,N,T
chr10,5435603,5435603,G,A,P379846_F,TUBAL3,Silent,NM_001171864,exon4,c.C1098T,p.Y366Y,SNP,SNVindel,exonic,TUBAL3,NA,synonymous SNV,"TUBAL3:NM_001171864:exon4:c.C1098T:p.Y366Y,TUBAL3:NM_024803:exon4:c.C1218T:p.Y406Y",NA,NA,NA,NA,NA,NA
chr10,50533189,50533189,G,A,P379846_F,C10orf71,Missense_Mutation,NM_001135196,exon3,c.G2599A,p.V867I,SNP,SNVindel,exonic,C10orf71,NA,nonsynonymous SNV,C10orf71:NM_001135196:exon3:c.G2599A:p.V867I,D,U,D,T,N,T
chr11,320606,320606,G,T,P379846_F,IFITM3,Missense_Mutation,NM_021034,exon1,c.C208A,p.P70T,SNP,SNVindel,exonic,IFITM3,NA,nonsynonymous SNV,IFITM3:NM_021034:exon1:c.C208A:p.P70T,T,.,N,T,N,T
chr11,320649,320649,G,A,P379846_F,IFITM3,Silent,NM_021034,exon1,c.C165T,p.P55P,SNP,SNVindel,exonic,IFITM3,NA,synonymous SNV,IFITM3:NM_021034:exon1:c.C165T:p.P55P,NA,NA,NA,NA,NA,NA
chr11,399093,399093,C,T,P379846_F,PKP3,Silent,NM_007183,exon5,c.C1170T,p.Y390Y,SNP,SNVindel,exonic,PKP3,NA,synonymous SNV,"PKP3:NM_007183:exon5:c.C1170T:p.Y390Y,PKP3:NM_001303029:exon6:c.C1215T:p.Y405Y",NA,NA,NA,NA,NA,NA
chr11,1268340,1268340,A,T,P379846_F,MUC5B,Silent,NM_002458,exon31,c.A10230T,p.P3410P,SNP,SNVindel,exonic,MUC5B,NA,synonymous SNV,MUC5B:NM_002458:exon31:c.A10230T:p.P3410P,NA,NA,NA,NA,NA,NA
chr11,1268931,1268931,A,C,P379846_F,MUC5B,Silent,NM_002458,exon31,c.A10821C,p.A3607A,SNP,SNVindel,exonic,MUC5B,NA,synonymous SNV,MUC5B:NM_002458:exon31:c.A10821C:p.A3607A,NA,NA,NA,NA,NA,NA
chr11,5068292,5068292,C,T,P379846_F,OR52J3,Silent,NM_001001916,exon1,c.C537T,p.S179S,SNP,SNVindel,exonic,OR52J3,NA,synonymous SNV,OR52J3:NM_001001916:exon1:c.C537T:p.S179S,NA,NA,NA,NA,NA,NA
chr11,17663705,17663705,G,A,P379846_F,OTOG,Missense_Mutation,NM_001277269,exon52,c.G8363A,p.R2788H,SNP,SNVindel,exonic,OTOG,NA,nonsynonymous SNV,"OTOG:NM_001277269:exon52:c.G8363A:p.R2788H,OTOG:NM_001292063:exon53:c.G8327A:p.R2776H",D,U,D,T,D,T
chr11,17757648,17757648,G,A,P379846_F,KCNC1,Silent,NM_001112741,exon1,c.G99A,p.R33R,SNP,SNVindel,exonic,KCNC1,NA,synonymous SNV,"KCNC1:NM_001112741:exon1:c.G99A:p.R33R,KCNC1:NM_004976:exon1:c.G99A:p.R33R",NA,NA,NA,NA,NA,NA
chr11,26586729,26586729,G,A,P379846_F,MUC15,Missense_Mutation,NM_145650,exon2,c.C677T,p.T226M,SNP,SNVindel,exonic,MUC15,NA,nonsynonymous SNV,"MUC15:NM_145650:exon2:c.C677T:p.T226M,MUC15:NM_001135091:exon3:c.C758T:p.T253M,MUC15:NM_001135092:exon3:c.C758T:p.T253M",T,N,D,T,D,T
chr11,33054493,33054493,G,A,P379846_F,DEPDC7,Missense_Mutation,NM_001077242,exon8,c.G1322A,p.R441K,SNP,SNVindel,exonic,DEPDC7,NA,nonsynonymous SNV,"DEPDC7:NM_001077242:exon8:c.G1322A:p.R441K,DEPDC7:NM_139160:exon8:c.G1295A:p.R432K",T,N,N,T,N,T
chr11,55944198,55944198,C,T,P379846_F,OR5J2,Silent,NM_001005492,exon1,c.C105T,p.Y35Y,SNP,SNVindel,exonic,OR5J2,NA,synonymous SNV,OR5J2:NM_001005492:exon1:c.C105T:p.Y35Y,NA,NA,NA,NA,NA,NA
chr11,124763926,124763926,C,T,P379846_F,ROBO4,Missense_Mutation,NM_001301088,exon9,c.G899A,p.R300Q,SNP,SNVindel,exonic,ROBO4,NA,nonsynonymous SNV,"ROBO4:NM_001301088:exon9:c.G899A:p.R300Q,ROBO4:NM_019055:exon9:c.G1334A:p.R445Q",T,N,N,T,N,T
chr12,111336859,111336859,C,T,P379846_F,CCDC63,Silent,NM_001286244,exon8,c.C1035T,p.D345D,SNP,SNVindel,exonic,CCDC63,NA,synonymous SNV,"CCDC63:NM_001286244:exon8:c.C1035T:p.D345D,CCDC63:NM_001286243:exon9:c.C1152T:p.D384D,CCDC63:NM_152591:exon10:c.C1272T:p.D424D",NA,NA,NA,NA,NA,NA
chr13,78236045,78236045,G,C,P379846_F,LOC100129307,Silent,NM_001310140,exon1,c.C717G,p.V239V,SNP,SNVindel,exonic,LOC100129307,NA,synonymous SNV,LOC100129307:NM_001310140:exon1:c.C717G:p.V239V,NA,NA,NA,NA,NA,NA
chr14,81609813,81609813,G,A,P379846_F,TSHR,Missense_Mutation,NM_000369,exon10,c.G1411A,p.A471T,SNP,SNVindel,exonic,TSHR,NA,nonsynonymous SNV,TSHR:NM_000369:exon10:c.G1411A:p.A471T,D,D,D,D,D,D
chr15,22743174,22743174,G,A,P379846_F,GOLGA6L1,Missense_Mutation,NM_001001413,exon8,c.G1559A,p.R520K,SNP,SNVindel,exonic,GOLGA6L1;GOLGA6L22,NA,nonsynonymous SNV,"GOLGA6L1:NM_001001413:exon8:c.G1559A:p.R520K,GOLGA6L22:NM_001271664:exon10:c.G1523A:p.R508K",.,.,N,.,.,T
chr15,42436278,42436278,G,A,P379846_F,PLA2G4F,Silent,NM_213600,exon18,c.C2040T,p.D680D,SNP,SNVindel,exonic,PLA2G4F,NA,synonymous SNV,PLA2G4F:NM_213600:exon18:c.C2040T:p.D680D,NA,NA,NA,NA,NA,NA
chr16,334925,334925,C,T,P379846_F,PDIA2,Silent,NM_006849,exon4,c.C588T,p.D196D,SNP,SNVindel,exonic,PDIA2,NA,synonymous SNV,PDIA2:NM_006849:exon4:c.C588T:p.D196D,NA,NA,NA,NA,NA,NA
chr16,22545784,22545784,A,C,P379846_F,NPIPB5,Missense_Mutation,NM_001135865,exon7,c.A1480C,p.T494P,SNP,SNVindel,exonic,NPIPB5,NA,nonsynonymous SNV,NPIPB5:NM_001135865:exon7:c.A1480C:p.T494P,T,.,N,T,N,T
chr16,71465833,71465833,G,T,P379846_F,TLE7,Missense_Mutation,NM_001367365,exon6,c.C682A,p.Q228K,SNP,SNVindel,exonic,TLE7,NA,nonsynonymous SNV,TLE7:NM_001367365:exon6:c.C682A:p.Q228K,NA,NA,NA,NA,NA,NA
chr17,6662992,6662992,G,A,P379846_F,XAF1,Missense_Mutation,NM_001353139,exon3,c.G113A,p.R38Q,SNP,SNVindel,exonic,XAF1,NA,nonsynonymous SNV,XAF1:NM_001353139:exon3:c.G113A:p.R38Q,.,.,N,T,.,.
chr17,7577538,7577538,C,T,P379846_F,TP53,Missense_Mutation,NM_001126115,exon3,c.G347A,p.R116Q,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon3:c.G347A:p.R116Q,TP53:NM_001126116:exon3:c.G347A:p.R116Q,TP53:NM_001126117:exon3:c.G347A:p.R116Q,TP53:NM_001276697:exon3:c.G266A:p.R89Q,TP53:NM_001276698:exon3:c.G266A:p.R89Q,TP53:NM_001276699:exon3:c.G266A:p.R89Q,TP53:NM_001126118:exon6:c.G626A:p.R209Q,TP53:NM_000546:exon7:c.G743A:p.R248Q,TP53:NM_001126112:exon7:c.G743A:p.R248Q,TP53:NM_001126113:exon7:c.G743A:p.R248Q,TP53:NM_001126114:exon7:c.G743A:p.R248Q,TP53:NM_001276695:exon7:c.G626A:p.R209Q,TP53:NM_001276696:exon7:c.G626A:p.R209Q,TP53:NM_001276760:exon7:c.G626A:p.R209Q,TP53:NM_001276761:exon7:c.G626A:p.R209Q",D,D,A,D,D,D
chr17,37900418,37900418,G,A,P379846_F,GRB7,Silent,NM_001030002,exon7,c.G759A,p.L253L,SNP,SNVindel,exonic,GRB7,NA,synonymous SNV,"GRB7:NM_001030002:exon7:c.G759A:p.L253L,GRB7:NM_001242442:exon7:c.G828A:p.L276L,GRB7:NM_001242443:exon7:c.G759A:p.L253L,GRB7:NM_001330207:exon7:c.G759A:p.L253L,GRB7:NM_005310:exon7:c.G759A:p.L253L",NA,NA,NA,NA,NA,NA
chr17,60003986,60003986,A,C,P379846_F,INTS2,Missense_Mutation,NM_001330417,exon2,c.T20G,p.L7R,SNP,SNVindel,exonic,INTS2,NA,nonsynonymous SNV,"INTS2:NM_001330417:exon2:c.T20G:p.L7R,INTS2:NM_001351695:exon2:c.T20G:p.L7R,INTS2:NM_020748:exon2:c.T44G:p.L15R",D,D,D,T,N,T
chr18,29040894,29040894,C,T,P379846_F,DSG3,Silent,NM_001944,exon7,c.C783T,p.N261N,SNP,SNVindel,exonic,DSG3,NA,synonymous SNV,DSG3:NM_001944:exon7:c.C783T:p.N261N,NA,NA,NA,NA,NA,NA
chr19,17566658,17566658,G,A,P379846_F,NXNL1,Missense_Mutation,NM_138454,exon2,c.C437T,p.T146I,SNP,SNVindel,exonic,NXNL1,NA,nonsynonymous SNV,NXNL1:NM_138454:exon2:c.C437T:p.T146I,T,U,N,D,N,T
chr19,50939915,50939915,G,A,P379846_F,MYBPC2,Silent,NM_004533,exon5,c.G387A,p.G129G,SNP,SNVindel,exonic,MYBPC2,NA,synonymous SNV,MYBPC2:NM_004533:exon5:c.G387A:p.G129G,NA,NA,NA,NA,NA,NA
chr19,55648547,55648547,G,A,P379846_F,TNNT1,Missense_Mutation,NM_001126133,exon10,c.C502T,p.R168W,SNP,SNVindel,exonic,TNNT1,NA,nonsynonymous SNV,"TNNT1:NM_001126133:exon10:c.C502T:p.R168W,TNNT1:NM_001126132:exon11:c.C535T:p.R179W,TNNT1:NM_001291774:exon11:c.C502T:p.R168W,TNNT1:NM_003283:exon11:c.C535T:p.R179W",D,D,D,D,D,D
chr19,56206650,56206650,C,T,P379846_F,EPN1,Silent,NM_013333,exon10,c.C1581T,p.G527G,SNP,SNVindel,exonic,EPN1,NA,synonymous SNV,"EPN1:NM_013333:exon10:c.C1581T:p.G527G,EPN1:NM_001130071:exon11:c.C1917T:p.G639G,EPN1:NM_001130072:exon11:c.C1659T:p.G553G,EPN1:NM_001321263:exon11:c.C1656T:p.G552G",NA,NA,NA,NA,NA,NA
chr20,5294762,5294762,C,T,P379846_F,PROKR2,Missense_Mutation,NM_144773,exon2,c.G254A,p.R85H,SNP,SNVindel,exonic,PROKR2,NA,nonsynonymous SNV,PROKR2:NM_144773:exon2:c.G254A:p.R85H,D,D,D,T,D,T
chr20,44520925,44520925,G,T,P379846_F,CTSA,Missense_Mutation,NM_000308,exon4,c.G374T,p.G125V,SNP,SNVindel,exonic,CTSA,NA,nonsynonymous SNV,"CTSA:NM_000308:exon4:c.G374T:p.G125V,CTSA:NM_001127695:exon4:c.G320T:p.G107V",D,D,D,D,D,D
chr20,57767883,57767883,C,T,P379846_F,ZNF831,Silent,NM_178457,exon1,c.C1809T,p.G603G,SNP,SNVindel,exonic,ZNF831,NA,synonymous SNV,ZNF831:NM_178457:exon1:c.C1809T:p.G603G,NA,NA,NA,NA,NA,NA
chr22,16287369,16287369,G,A,P379846_F,POTEH,Missense_Mutation,NM_001136213,exon1,c.C517T,p.R173C,SNP,SNVindel,exonic,POTEH,NA,nonsynonymous SNV,POTEH:NM_001136213:exon1:c.C517T:p.R173C,NA,NA,NA,NA,NA,NA
chr22,17265165,17265165,G,A,P379846_F,XKR3,Missense_Mutation,NM_001318251,exon4,c.C724T,p.R242C,SNP,SNVindel,exonic,XKR3,NA,nonsynonymous SNV,"XKR3:NM_001318251:exon4:c.C724T:p.R242C,XKR3:NM_175878:exon4:c.C724T:p.R242C",D,U,D,T,D,T
chr22,20128506,20128506,G,A,P379846_F,ZDHHC8,Missense_Mutation,NM_001185024,exon7,c.G865A,p.G289R,SNP,SNVindel,exonic,ZDHHC8,NA,nonsynonymous SNV,"ZDHHC8:NM_001185024:exon7:c.G865A:p.G289R,ZDHHC8:NM_013373:exon7:c.G865A:p.G289R",D,N,D,T,D,D
chr22,26165019,26165019,G,A,P379846_F,MYO18B,Missense_Mutation,NM_001318245,exon4,c.G1136A,p.R379Q,SNP,SNVindel,exonic,MYO18B,NA,nonsynonymous SNV,"MYO18B:NM_001318245:exon4:c.G1136A:p.R379Q,MYO18B:NM_032608:exon4:c.G1136A:p.R379Q",T,N,N,D,N,T
chrX,7811911,7811911,G,A,P379846_F,VCX,Missense_Mutation,NM_013452,exon3,c.G475A,p.E159K,SNP,SNVindel,exonic,VCX,NA,nonsynonymous SNV,VCX:NM_013452:exon3:c.G475A:p.E159K,T,.,N,T,N,T
chrX,18824617,18824617,C,T,P379846_F,PPEF1,Nonsense_Mutation,NM_152226,exon14,c.C1162T,p.Q388X,SNP,SNVindel,exonic,PPEF1,NA,stopgain,"PPEF1:NM_152226:exon14:c.C1162T:p.Q388X,PPEF1:NM_006240:exon15:c.C1348T:p.Q450X,PPEF1:NM_152224:exon15:c.C1264T:p.Q422X",.,N,A,.,.,.
chrX,152939520,152939520,C,T,P379846_F,PNCK,Silent,NM_001039582,exon1,c.G111A,p.P37P,SNP,SNVindel,exonic,PNCK,NA,synonymous SNV,PNCK:NM_001039582:exon1:c.G111A:p.P37P,NA,NA,NA,NA,NA,NA
chr1,1114614,1114614,C,T,P379846_S,TTLL10,Missense_Mutation,NM_001130045,exon4,c.C19T,p.R7W,SNP,SNVindel,exonic,TTLL10,NA,nonsynonymous SNV,TTLL10:NM_001130045:exon4:c.C19T:p.R7W,D,.,N,T,N,T
chr1,11769334,11769334,C,T,P379846_S,DRAXIN,Nonsense_Mutation,NM_198545,exon3,c.C454T,p.R152X,SNP,SNVindel,exonic,DRAXIN,NA,stopgain,DRAXIN:NM_198545:exon3:c.C454T:p.R152X,.,N,A,.,.,.
chr1,47282802,47282802,C,T,P379846_S,CYP4B1,Missense_Mutation,NM_001319162,exon7,c.C667T,p.R223C,SNP,SNVindel,exonic,CYP4B1,NA,nonsynonymous SNV,"CYP4B1:NM_001319162:exon7:c.C667T:p.R223C,CYP4B1:NM_001319163:exon7:c.C664T:p.R222C,CYP4B1:NM_001319161:exon8:c.C1111T:p.R371C,CYP4B1:NM_000779:exon9:c.C1153T:p.R385C,CYP4B1:NM_001099772:exon9:c.C1156T:p.R386C",D,N,D,D,D,D
chr1,70904459,70904459,G,C,P379846_S,CTH,Missense_Mutation,NM_001190463,exon10,c.G1045C,p.E349Q,SNP,SNVindel,exonic,CTH,NA,nonsynonymous SNV,"CTH:NM_001190463:exon10:c.G1045C:p.E349Q,CTH:NM_153742:exon10:c.G1009C:p.E337Q,CTH:NM_001902:exon11:c.G1141C:p.E381Q",D,D,D,D,D,D
chr1,84880273,84880273,C,T,P379846_S,DNASE2B,Nonsense_Mutation,NM_058248,exon4,c.C184T,p.R62X,SNP,SNVindel,exonic,DNASE2B,NA,stopgain,"DNASE2B:NM_058248:exon4:c.C184T:p.R62X,DNASE2B:NM_021233:exon6:c.C808T:p.R270X",.,N,D,.,.,.
chr1,115316975,115316975,G,A,P379846_S,SIKE1,Nonsense_Mutation,NM_001102396,exon5,c.C553T,p.R185X,SNP,SNVindel,exonic,SIKE1,NA,stopgain,"SIKE1:NM_001102396:exon5:c.C553T:p.R185X,SIKE1:NM_025073:exon5:c.C541T:p.R181X",.,D,D,.,.,.
chr1,154558797,154558797,G,A,P379846_S,ADAR,Missense_Mutation,NM_001025107,exon12,c.C2177T,p.T726M,SNP,SNVindel,exonic,ADAR,NA,nonsynonymous SNV,"ADAR:NM_001025107:exon12:c.C2177T:p.T726M,ADAR:NM_001111:exon12:c.C3062T:p.T1021M,ADAR:NM_001193495:exon12:c.C2177T:p.T726M,ADAR:NM_001365045:exon12:c.C3089T:p.T1030M,ADAR:NM_001365048:exon12:c.C2177T:p.T726M,ADAR:NM_015840:exon12:c.C2984T:p.T995M,ADAR:NM_015841:exon12:c.C2927T:p.T976M,ADAR:NM_001365046:exon13:c.C2177T:p.T726M,ADAR:NM_001365047:exon13:c.C2177T:p.T726M,ADAR:NM_001365049:exon13:c.C2099T:p.T700M",D,D,D,D,D,D
chr1,179620015,179620015,C,T,P379846_S,TDRD5,Missense_Mutation,NM_001199092,exon9,c.C479T,p.S160L,SNP,SNVindel,exonic,TDRD5,NA,nonsynonymous SNV,"TDRD5:NM_001199092:exon9:c.C479T:p.S160L,TDRD5:NM_001199085:exon12:c.C1814T:p.S605L,TDRD5:NM_001199089:exon12:c.C1814T:p.S605L,TDRD5:NM_001199091:exon12:c.C1814T:p.S605L,TDRD5:NM_001349923:exon12:c.C1814T:p.S605L,TDRD5:NM_173533:exon12:c.C1814T:p.S605L",T,N,N,T,N,T
chr1,201172920,201172920,C,T,P379846_S,IGFN1,Missense_Mutation,NM_001164586,exon10,c.C802T,p.R268W,SNP,SNVindel,exonic,IGFN1,NA,nonsynonymous SNV,"IGFN1:NM_001164586:exon10:c.C802T:p.R268W,IGFN1:NM_001367841:exon10:c.C802T:p.R268W",D,.,D,T,N,T
chr2,95756227,95756227,G,A,P379846_S,MRPS5,Silent,NM_001321995,exon11,c.C735T,p.C245C,SNP,SNVindel,exonic,MRPS5,NA,synonymous SNV,"MRPS5:NM_001321995:exon11:c.C735T:p.C245C,MRPS5:NM_001321996:exon11:c.C474T:p.C158C,MRPS5:NM_001321997:exon11:c.C474T:p.C158C,MRPS5:NM_031902:exon11:c.C972T:p.C324C",NA,NA,NA,NA,NA,NA
chr2,130878033,130878033,C,A,P379846_S,POTEF,Missense_Mutation,NM_001099771,exon3,c.G56T,p.G19V,SNP,SNVindel,exonic,POTEF,NA,nonsynonymous SNV,POTEF:NM_001099771:exon3:c.G56T:p.G19V,T,.,N,T,N,T
chr2,177036363,177036363,C,T,P379846_S,HOXD3,Silent,NM_006898,exon4,c.C660T,p.C220C,SNP,SNVindel,exonic,HOXD3,NA,synonymous SNV,HOXD3:NM_006898:exon4:c.C660T:p.C220C,NA,NA,NA,NA,NA,NA
chr2,220346063,220346063,C,T,P379846_S,SPEG,Missense_Mutation,NM_005876,exon27,c.C5407T,p.R1803W,SNP,SNVindel,exonic,SPEG,NA,nonsynonymous SNV,SPEG:NM_005876:exon27:c.C5407T:p.R1803W,D,N,D,T,D,T
chr2,233321938,233321938,G,A,P379846_S,ALPI,Missense_Mutation,NM_001631,exon5,c.G554A,p.R185H,SNP,SNVindel,exonic,ALPI,NA,nonsynonymous SNV,ALPI:NM_001631:exon5:c.G554A:p.R185H,D,D,D,D,D,D
chr3,58870322,58870322,G,A,P379846_S,C3orf67,Missense_Mutation,NM_001351531,exon6,c.C49T,p.R17C,SNP,SNVindel,exonic,C3orf67,NA,nonsynonymous SNV,"C3orf67:NM_001351531:exon6:c.C49T:p.R17C,C3orf67:NM_001351533:exon7:c.C664T:p.R222C,C3orf67:NM_198463:exon7:c.C289T:p.R97C",D,N,D,T,D,T
chr3,69084195,69084195,A,G,P379846_S,TMF1,Silent,NM_001363879,exon9,c.T2232C,p.H744H,SNP,SNVindel,exonic,TMF1,NA,synonymous SNV,"TMF1:NM_001363879:exon9:c.T2232C:p.H744H,TMF1:NM_007114:exon9:c.T2223C:p.H741H",NA,NA,NA,NA,NA,NA
chr3,100467161,100467161,C,G,P379846_S,TFG,Missense_Mutation,NM_001007565,exon8,c.C989G,p.T330S,SNP,SNVindel,exonic,TFG,NA,nonsynonymous SNV,"TFG:NM_001007565:exon8:c.C989G:p.T330S,TFG:NM_001195478:exon8:c.C989G:p.T330S,TFG:NM_001195479:exon8:c.C977G:p.T326S,TFG:NM_006070:exon8:c.C989G:p.T330S",D,N,D,T,N,T
chr3,123983351,123983351,C,T,P379846_S,KALRN,Silent,NM_001024660,exon4,c.C264T,p.D88D,SNP,SNVindel,exonic,KALRN,NA,synonymous SNV,"KALRN:NM_001024660:exon4:c.C264T:p.D88D,KALRN:NM_001322988:exon4:c.C264T:p.D88D,KALRN:NM_001322989:exon4:c.C264T:p.D88D,KALRN:NM_001322990:exon4:c.C264T:p.D88D,KALRN:NM_001322991:exon4:c.C264T:p.D88D,KALRN:NM_001322992:exon4:c.C264T:p.D88D,KALRN:NM_003947:exon4:c.C264T:p.D88D",NA,NA,NA,NA,NA,NA
chr3,137890518,137890518,G,A,P379846_S,DBR1,Silent,NM_016216,exon3,c.C360T,p.I120I,SNP,SNVindel,exonic,DBR1,NA,synonymous SNV,DBR1:NM_016216:exon3:c.C360T:p.I120I,NA,NA,NA,NA,NA,NA
chr3,169540626,169540626,G,A,P379846_S,LRRIQ4,Missense_Mutation,NM_001080460,exon1,c.G917A,p.R306H,SNP,SNVindel,exonic,LRRIQ4,NA,nonsynonymous SNV,LRRIQ4:NM_001080460:exon1:c.G917A:p.R306H,D,N,N,T,D,T
chr4,24801387,24801387,G,A,P379846_S,SOD3,Missense_Mutation,NM_003102,exon2,c.G244A,p.V82I,SNP,SNVindel,exonic,SOD3,NA,nonsynonymous SNV,SOD3:NM_003102:exon2:c.G244A:p.V82I,T,D,D,T,N,T
chr4,68529612,68529612,G,A,P379846_S,UBA6,Silent,NM_018227,exon11,c.C951T,p.S317S,SNP,SNVindel,exonic,UBA6,NA,synonymous SNV,UBA6:NM_018227:exon11:c.C951T:p.S317S,NA,NA,NA,NA,NA,NA
chr4,70512978,70512978,C,T,P379846_S,UGT2A1,Missense_Mutation,NM_001301239,exon1,c.G385A,p.V129I,SNP,SNVindel,exonic,UGT2A1,NA,nonsynonymous SNV,"UGT2A1:NM_001301239:exon1:c.G385A:p.V129I,UGT2A1:NM_001252274:exon2:c.G385A:p.V129I,UGT2A1:NM_001252275:exon2:c.G385A:p.V129I,UGT2A1:NM_006798:exon2:c.G385A:p.V129I",T,D,.,T,N,T
chr4,111470692,111470692,G,A,P379846_S,ENPEP,Missense_Mutation,NM_001977,exon16,c.G2234A,p.R745H,SNP,SNVindel,exonic,ENPEP,NA,nonsynonymous SNV,ENPEP:NM_001977:exon16:c.G2234A:p.R745H,D,D,D,T,D,T
chr4,155506748,155506748,G,A,P379846_S,FGA,Silent,NM_000508,exon5,c.C1833T,p.A611A,SNP,SNVindel,exonic,FGA,NA,synonymous SNV,"FGA:NM_000508:exon5:c.C1833T:p.A611A,FGA:NM_021871:exon5:c.C1833T:p.A611A",.,.,N,.,.,T
chr5,878525,878525,T,A,P379846_S,BRD9,Missense_Mutation,NM_001009877,exon11,c.A1057T,p.M353L,SNP,SNVindel,exonic,BRD9,NA,nonsynonymous SNV,"BRD9:NM_001009877:exon11:c.A1057T:p.M353L,BRD9:NM_001317951:exon11:c.A928T:p.M310L,BRD9:NM_023924:exon11:c.A1216T:p.M406L",T,N,N,T,N,T
chr5,45303866,45303866,T,C,P379846_S,HCN1,Missense_Mutation,NM_021072,exon6,c.A1453G,p.T485A,SNP,SNVindel,exonic,HCN1,NA,nonsynonymous SNV,HCN1:NM_021072:exon6:c.A1453G:p.T485A,D,D,D,D,D,D
chr5,120022106,120022106,G,A,P379846_S,PRR16,Missense_Mutation,NM_001300783,exon2,c.G617A,p.R206Q,SNP,SNVindel,exonic,PRR16,NA,nonsynonymous SNV,"PRR16:NM_001300783:exon2:c.G617A:p.R206Q,PRR16:NM_001308087:exon2:c.G407A:p.R136Q,PRR16:NM_016644:exon3:c.G548A:p.R183Q,PRR16:NM_001308088:exon4:c.G407A:p.R136Q",D,D,D,T,D,T
chr5,140475862,140475862,G,A,P379846_S,PCDHB2,Silent,NM_018936,exon1,c.G1488A,p.Q496Q,SNP,SNVindel,exonic,PCDHB2,NA,synonymous SNV,PCDHB2:NM_018936:exon1:c.G1488A:p.Q496Q,NA,NA,NA,NA,NA,NA
chr5,140502997,140502997,A,C,P379846_S,PCDHB4,Missense_Mutation,NM_018938,exon1,c.A1417C,p.S473R,SNP,SNVindel,exonic,PCDHB4,NA,nonsynonymous SNV,PCDHB4:NM_018938:exon1:c.A1417C:p.S473R,T,.,N,T,D,T
chr5,140503002,140503002,C,A,P379846_S,PCDHB4,Silent,NM_018938,exon1,c.C1422A,p.A474A,SNP,SNVindel,exonic,PCDHB4,NA,synonymous SNV,PCDHB4:NM_018938:exon1:c.C1422A:p.A474A,NA,NA,NA,NA,NA,NA
chr5,156809621,156809621,G,A,P379846_S,CYFIP2,Silent,NM_001291721,exon26,c.G2985A,p.L995L,SNP,SNVindel,exonic,CYFIP2,NA,synonymous SNV,"CYFIP2:NM_001291721:exon26:c.G2985A:p.L995L,CYFIP2:NM_001037333:exon27:c.G3063A:p.L1021L,CYFIP2:NM_014376:exon27:c.G3063A:p.L1021L,CYFIP2:NM_001291722:exon28:c.G3138A:p.L1046L",NA,NA,NA,NA,NA,NA
chr6,35423911,35423911,G,A,P379846_S,FANCE,Silent,NM_021922,exon2,c.G636A,p.E212E,SNP,SNVindel,exonic,FANCE,NA,synonymous SNV,FANCE:NM_021922:exon2:c.G636A:p.E212E,NA,NA,NA,NA,NA,NA
chr6,42227354,42227354,C,T,P379846_S,TRERF1,Silent,NM_001297573,exon9,c.G2052A,p.P684P,SNP,SNVindel,exonic,TRERF1,NA,synonymous SNV,"TRERF1:NM_001297573:exon9:c.G2052A:p.P684P,TRERF1:NM_033502:exon9:c.G1992A:p.P664P",NA,NA,NA,NA,NA,NA
chr6,44221316,44221316,G,A,P379846_S,HSP90AB1,Missense_Mutation,NM_001271969,exon12,c.G2156A,p.R719H,SNP,SNVindel,exonic,HSP90AB1,NA,nonsynonymous SNV,"HSP90AB1:NM_001271969:exon12:c.G2156A:p.R719H,HSP90AB1:NM_001271970:exon12:c.G2156A:p.R719H,HSP90AB1:NM_001271971:exon12:c.G2012A:p.R671H,HSP90AB1:NM_001271972:exon12:c.G2126A:p.R709H,HSP90AB1:NM_001371238:exon12:c.G2156A:p.R719H,HSP90AB1:NM_007355:exon12:c.G2156A:p.R719H",T,U,D,T,N,T
chr6,138531141,138531141,C,G,P379846_S,ARFGEF3,Missense_Mutation,NM_020340,exon4,c.C314G,p.P105R,SNP,SNVindel,exonic,ARFGEF3,NA,nonsynonymous SNV,ARFGEF3:NM_020340:exon4:c.C314G:p.P105R,T,D,D,T,D,T
chr6,138655286,138655286,C,T,P379846_S,ARFGEF3,Missense_Mutation,NM_020340,exon33,c.C5303T,p.A1768V,SNP,SNVindel,exonic,ARFGEF3,NA,nonsynonymous SNV,ARFGEF3:NM_020340:exon33:c.C5303T:p.A1768V,T,N,D,T,N,T
chr7,5336760,5336760,C,T,P379846_S,SLC29A4,Silent,NM_001040661,exon7,c.C813T,p.G271G,SNP,SNVindel,exonic,SLC29A4,NA,synonymous SNV,"SLC29A4:NM_001040661:exon7:c.C813T:p.G271G,SLC29A4:NM_001300847:exon7:c.C771T:p.G257G,SLC29A4:NM_153247:exon7:c.C813T:p.G271G",NA,NA,NA,NA,NA,NA
chr7,77549655,77549655,C,T,P379846_S,PHTF2,Missense_Mutation,NM_020432,exon7,c.C722T,p.S241F,SNP,SNVindel,exonic,PHTF2,NA,nonsynonymous SNV,"PHTF2:NM_020432:exon7:c.C722T:p.S241F,PHTF2:NM_001127357:exon8:c.C734T:p.S245F,PHTF2:NM_001127358:exon8:c.C722T:p.S241F,PHTF2:NM_001127359:exon8:c.C734T:p.S245F,PHTF2:NM_001127360:exon8:c.C722T:p.S241F,PHTF2:NM_001366081:exon8:c.C722T:p.S241F,PHTF2:NM_001366082:exon8:c.C722T:p.S241F,PHTF2:NM_001366083:exon8:c.C722T:p.S241F,PHTF2:NM_001366084:exon8:c.C722T:p.S241F,PHTF2:NM_001366085:exon8:c.C722T:p.S241F,PHTF2:NM_001366086:exon8:c.C722T:p.S241F,PHTF2:NM_001366087:exon8:c.C722T:p.S241F,PHTF2:NM_001366088:exon8:c.C722T:p.S241F,PHTF2:NM_001366089:exon9:c.C836T:p.S279F",D,D,D,.,N,T
chr7,80088106,80088106,C,A,P379846_S,GNAT3,Missense_Mutation,NM_001102386,exon8,c.G946T,p.D316Y,SNP,SNVindel,exonic,GNAT3,NA,nonsynonymous SNV,GNAT3:NM_001102386:exon8:c.G946T:p.D316Y,D,U,D,D,N,D
chr7,98633171,98633171,G,A,P379846_S,SMURF1,Nonsense_Mutation,NM_001199847,exon16,c.C1978T,p.R660X,SNP,SNVindel,exonic,SMURF1,NA,stopgain,"SMURF1:NM_001199847:exon16:c.C1978T:p.R660X,SMURF1:NM_181349:exon16:c.C1978T:p.R660X,SMURF1:NM_020429:exon17:c.C2056T:p.R686X",.,D,A,.,.,.
chr7,100775187,100775187,C,T,P379846_S,SERPINE1,Silent,NM_000602,exon4,c.C537T,p.A179A,SNP,SNVindel,exonic,SERPINE1,NA,synonymous SNV,SERPINE1:NM_000602:exon4:c.C537T:p.A179A,NA,NA,NA,NA,NA,NA
chr7,117120149,117120149,A,G,P379846_S,CFTR,Translation_Start_Site,NM_000492,exon1,c.A1G,p.M1?,SNP,SNVindel,exonic,CFTR,NA,startloss,CFTR:NM_000492:exon1:c.A1G:p.M1?,D,D,D,D,N,T
chr7,128487758,128487758,G,A,P379846_S,FLNC,Silent,NM_001127487,exon25,c.G4296A,p.P1432P,SNP,SNVindel,exonic,FLNC,NA,synonymous SNV,"FLNC:NM_001127487:exon25:c.G4296A:p.P1432P,FLNC:NM_001458:exon25:c.G4296A:p.P1432P",NA,NA,NA,NA,NA,NA
chr7,140154473,140154473,G,T,P379846_S,MKRN1,Silent,NM_013446,exon8,c.C1293A,p.P431P,SNP,SNVindel,exonic,MKRN1,NA,synonymous SNV,MKRN1:NM_013446:exon8:c.C1293A:p.P431P,.,D,D,.,D,T
chr7,140154474,140154474,G,A,P379846_S,MKRN1,Missense_Mutation,NM_013446,exon8,c.C1292T,p.P431L,SNP,SNVindel,exonic,MKRN1,NA,nonsynonymous SNV,MKRN1:NM_013446:exon8:c.C1292T:p.P431L,T,D,D,T,N,T
chr7,141672521,141672521,G,A,P379846_S,TAS2R38,Silent,NM_176817,exon1,c.C969T,p.A323A,SNP,SNVindel,exonic,TAS2R38,NA,synonymous SNV,TAS2R38:NM_176817:exon1:c.C969T:p.A323A,NA,NA,NA,NA,NA,NA
chr8,11188922,11188922,T,C,P379846_S,SLC35G5,Missense_Mutation,NM_054028,exon1,c.T307C,p.W103R,SNP,SNVindel,exonic,SLC35G5,NA,nonsynonymous SNV,SLC35G5:NM_054028:exon1:c.T307C:p.W103R,T,N,N,T,N,T
chr8,48746907,48746907,C,G,P379846_S,PRKDC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PRKDC,NA,unknown,UNKNOWN,.,N,N,.,.,T
chr8,102555525,102555525,G,A,P379846_S,GRHL2,Missense_Mutation,NM_001330593,exon2,c.G29A,p.R10Q,SNP,SNVindel,exonic,GRHL2,NA,nonsynonymous SNV,"GRHL2:NM_001330593:exon2:c.G29A:p.R10Q,GRHL2:NM_024915:exon2:c.G77A:p.R26Q",T,D,D,T,N,T
chr8,141542687,141542687,C,T,P379846_S,AGO2,Missense_Mutation,NM_001164623,exon17,c.G2197A,p.V733I,SNP,SNVindel,exonic,AGO2,NA,nonsynonymous SNV,"AGO2:NM_001164623:exon17:c.G2197A:p.V733I,AGO2:NM_012154:exon18:c.G2299A:p.V767I",D,D,D,T,N,T
chr9,35548205,35548205,C,T,P379846_S,RUSC2,Missense_Mutation,NM_001135999,exon2,c.C1687T,p.R563C,SNP,SNVindel,exonic,RUSC2,NA,nonsynonymous SNV,"RUSC2:NM_001135999:exon2:c.C1687T:p.R563C,RUSC2:NM_014806:exon2:c.C1687T:p.R563C",D,D,D,T,N,T
chr9,84607496,84607496,G,A,P379846_S,SPATA31D1,Missense_Mutation,NM_001001670,exon4,c.G2111A,p.R704H,SNP,SNVindel,exonic,SPATA31D1,NA,nonsynonymous SNV,SPATA31D1:NM_001001670:exon4:c.G2111A:p.R704H,T,N,N,T,N,T
chr9,117826219,117826219,C,G,P379846_S,TNC,Missense_Mutation,NM_002160,exon12,c.G3616C,p.E1206Q,SNP,SNVindel,exonic,TNC,NA,nonsynonymous SNV,TNC:NM_002160:exon12:c.G3616C:p.E1206Q,T,N,N,T,N,T
chr9,131596071,131596071,C,T,P379846_S,KYAT1,Missense_Mutation,NM_001122672,exon11,c.G1007A,p.S336N,SNP,SNVindel,exonic,KYAT1,NA,nonsynonymous SNV,"KYAT1:NM_001122672:exon11:c.G1007A:p.S336N,KYAT1:NM_001122671:exon12:c.G1157A:p.S386N,KYAT1:NM_001352989:exon12:c.G1157A:p.S386N,KYAT1:NM_001352991:exon12:c.G1157A:p.S386N,KYAT1:NM_001352993:exon12:c.G1157A:p.S386N,KYAT1:NM_001352999:exon12:c.G983A:p.S328N,KYAT1:NM_004059:exon12:c.G1157A:p.S386N,KYAT1:NM_001352988:exon13:c.G1157A:p.S386N,KYAT1:NM_001352990:exon13:c.G1157A:p.S386N,KYAT1:NM_001352992:exon13:c.G1157A:p.S386N,KYAT1:NM_001352997:exon13:c.G1259A:p.S420N,KYAT1:NM_001352998:exon13:c.G1259A:p.S420N,KYAT1:NM_001287390:exon14:c.G1439A:p.S480N,KYAT1:NM_001352994:exon14:c.G1439A:p.S480N,KYAT1:NM_001352995:exon14:c.G1436A:p.S479N,KYAT1:NM_001352996:exon14:c.G1436A:p.S479N",T,D,D,D,N,D
chr9,136509387,136509387,G,A,P379846_S,DBH,Silent,NM_000787,exon5,c.G969A,p.G323G,SNP,SNVindel,exonic,DBH,NA,synonymous SNV,DBH:NM_000787:exon5:c.G969A:p.G323G,NA,NA,NA,NA,NA,NA
chr9,138439090,138439090,C,T,P379846_S,OBP2A,Missense_Mutation,NM_001293193,exon2,c.C139T,p.R47C,SNP,SNVindel,exonic,OBP2A,NA,nonsynonymous SNV,OBP2A:NM_001293193:exon2:c.C139T:p.R47C,T,.,N,T,N,T
chr9,139266507,139266507,G,A,P379846_S,CARD9,Silent,NM_052813,exon2,c.C24T,p.D8D,SNP,SNVindel,exonic,CARD9,NA,synonymous SNV,"CARD9:NM_052813:exon2:c.C24T:p.D8D,CARD9:NM_052814:exon2:c.C24T:p.D8D",NA,NA,NA,NA,NA,NA
chr10,5435603,5435603,G,A,P379846_S,TUBAL3,Silent,NM_001171864,exon4,c.C1098T,p.Y366Y,SNP,SNVindel,exonic,TUBAL3,NA,synonymous SNV,"TUBAL3:NM_001171864:exon4:c.C1098T:p.Y366Y,TUBAL3:NM_024803:exon4:c.C1218T:p.Y406Y",NA,NA,NA,NA,NA,NA
chr10,50167828,50167828,C,T,P379846_S,WDFY4,Silent,NM_020945,exon53,c.C8193T,p.D2731D,SNP,SNVindel,exonic,WDFY4,NA,synonymous SNV,WDFY4:NM_020945:exon53:c.C8193T:p.D2731D,NA,NA,NA,NA,NA,NA
chr10,50533189,50533189,G,A,P379846_S,C10orf71,Missense_Mutation,NM_001135196,exon3,c.G2599A,p.V867I,SNP,SNVindel,exonic,C10orf71,NA,nonsynonymous SNV,C10orf71:NM_001135196:exon3:c.G2599A:p.V867I,D,U,D,T,N,T
chr10,116919860,116919860,A,G,P379846_S,ATRNL1,Missense_Mutation,NM_001276282,exon6,c.A889G,p.K297E,SNP,SNVindel,exonic,ATRNL1,NA,nonsynonymous SNV,"ATRNL1:NM_001276282:exon6:c.A889G:p.K297E,ATRNL1:NM_207303:exon6:c.A889G:p.K297E",T,D,D,T,N,T
chr11,320606,320606,G,T,P379846_S,IFITM3,Missense_Mutation,NM_021034,exon1,c.C208A,p.P70T,SNP,SNVindel,exonic,IFITM3,NA,nonsynonymous SNV,IFITM3:NM_021034:exon1:c.C208A:p.P70T,T,.,N,T,N,T
chr11,320649,320649,G,A,P379846_S,IFITM3,Silent,NM_021034,exon1,c.C165T,p.P55P,SNP,SNVindel,exonic,IFITM3,NA,synonymous SNV,IFITM3:NM_021034:exon1:c.C165T:p.P55P,NA,NA,NA,NA,NA,NA
chr11,399093,399093,C,T,P379846_S,PKP3,Silent,NM_007183,exon5,c.C1170T,p.Y390Y,SNP,SNVindel,exonic,PKP3,NA,synonymous SNV,"PKP3:NM_007183:exon5:c.C1170T:p.Y390Y,PKP3:NM_001303029:exon6:c.C1215T:p.Y405Y",NA,NA,NA,NA,NA,NA
chr11,1270382,1270382,C,G,P379846_S,MUC5B,Missense_Mutation,NM_002458,exon31,c.C12272G,p.T4091R,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.C12272G:p.T4091R,D,.,N,T,N,T
chr11,5068292,5068292,C,T,P379846_S,OR52J3,Silent,NM_001001916,exon1,c.C537T,p.S179S,SNP,SNVindel,exonic,OR52J3,NA,synonymous SNV,OR52J3:NM_001001916:exon1:c.C537T:p.S179S,NA,NA,NA,NA,NA,NA
chr11,17663705,17663705,G,A,P379846_S,OTOG,Missense_Mutation,NM_001277269,exon52,c.G8363A,p.R2788H,SNP,SNVindel,exonic,OTOG,NA,nonsynonymous SNV,"OTOG:NM_001277269:exon52:c.G8363A:p.R2788H,OTOG:NM_001292063:exon53:c.G8327A:p.R2776H",D,U,D,T,D,T
chr11,26586729,26586729,G,A,P379846_S,MUC15,Missense_Mutation,NM_145650,exon2,c.C677T,p.T226M,SNP,SNVindel,exonic,MUC15,NA,nonsynonymous SNV,"MUC15:NM_145650:exon2:c.C677T:p.T226M,MUC15:NM_001135091:exon3:c.C758T:p.T253M,MUC15:NM_001135092:exon3:c.C758T:p.T253M",T,N,D,T,D,T
chr11,55944198,55944198,C,T,P379846_S,OR5J2,Silent,NM_001005492,exon1,c.C105T,p.Y35Y,SNP,SNVindel,exonic,OR5J2,NA,synonymous SNV,OR5J2:NM_001005492:exon1:c.C105T:p.Y35Y,NA,NA,NA,NA,NA,NA
chr11,64884445,64884445,G,C,P379846_S,ZNHIT2,Silent,NM_014205,exon1,c.C681G,p.A227A,SNP,SNVindel,exonic,ZNHIT2,NA,synonymous SNV,ZNHIT2:NM_014205:exon1:c.C681G:p.A227A,NA,NA,NA,NA,NA,NA
chr11,65293658,65293658,G,A,P379846_S,SCYL1,Missense_Mutation,NM_001048218,exon4,c.G439A,p.V147M,SNP,SNVindel,exonic,SCYL1,NA,nonsynonymous SNV,"SCYL1:NM_001048218:exon4:c.G439A:p.V147M,SCYL1:NM_020680:exon4:c.G439A:p.V147M",D,D,D,T,D,D
chr12,40878067,40878067,G,A,P379846_S,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,111336859,111336859,C,T,P379846_S,CCDC63,Silent,NM_001286244,exon8,c.C1035T,p.D345D,SNP,SNVindel,exonic,CCDC63,NA,synonymous SNV,"CCDC63:NM_001286244:exon8:c.C1035T:p.D345D,CCDC63:NM_001286243:exon9:c.C1152T:p.D384D,CCDC63:NM_152591:exon10:c.C1272T:p.D424D",NA,NA,NA,NA,NA,NA
chr13,36242543,36242543,C,T,P379846_S,NBEA,Silent,NM_001204197,exon17,c.C2016T,p.T672T,SNP,SNVindel,exonic,NBEA,NA,synonymous SNV,"NBEA:NM_001204197:exon17:c.C2016T:p.T672T,NBEA:NM_015678:exon57:c.C8637T:p.T2879T",NA,NA,NA,NA,NA,NA
chr13,78236045,78236045,G,C,P379846_S,LOC100129307,Silent,NM_001310140,exon1,c.C717G,p.V239V,SNP,SNVindel,exonic,LOC100129307,NA,synonymous SNV,LOC100129307:NM_001310140:exon1:c.C717G:p.V239V,NA,NA,NA,NA,NA,NA
chr14,70245193,70245193,G,A,P379846_S,SLC10A1,Missense_Mutation,NM_003049,exon4,c.C800T,p.S267F,SNP,SNVindel,exonic,SLC10A1,NA,nonsynonymous SNV,SLC10A1:NM_003049:exon4:c.C800T:p.S267F,D,N,D,T,D,T
chr14,77808225,77808225,C,G,P379846_S,TMED8,Missense_Mutation,NM_001346131,exon6,c.G882C,p.Q294H,SNP,SNVindel,exonic,TMED8,NA,nonsynonymous SNV,"TMED8:NM_001346131:exon6:c.G882C:p.Q294H,TMED8:NM_001346133:exon6:c.G663C:p.Q221H,TMED8:NM_001346134:exon6:c.G663C:p.Q221H,TMED8:NM_213601:exon6:c.G867C:p.Q289H",T,D,D,T,N,T
chr14,81609751,81609751,G,A,P379846_S,TSHR,Missense_Mutation,NM_000369,exon10,c.G1349A,p.R450H,SNP,SNVindel,exonic,TSHR,NA,nonsynonymous SNV,TSHR:NM_000369:exon10:c.G1349A:p.R450H,D,D,D,D,D,D
chr14,81609813,81609813,G,A,P379846_S,TSHR,Missense_Mutation,NM_000369,exon10,c.G1411A,p.A471T,SNP,SNVindel,exonic,TSHR,NA,nonsynonymous SNV,TSHR:NM_000369:exon10:c.G1411A:p.A471T,D,D,D,D,D,D
chr15,42436278,42436278,G,A,P379846_S,PLA2G4F,Silent,NM_213600,exon18,c.C2040T,p.D680D,SNP,SNVindel,exonic,PLA2G4F,NA,synonymous SNV,PLA2G4F:NM_213600:exon18:c.C2040T:p.D680D,NA,NA,NA,NA,NA,NA
chr15,89753663,89753663,G,A,P379846_S,RLBP1,Silent,NM_000326,exon9,c.C807T,p.H269H,SNP,SNVindel,exonic,RLBP1,NA,synonymous SNV,RLBP1:NM_000326:exon9:c.C807T:p.H269H,NA,NA,NA,NA,NA,NA
chr16,334925,334925,C,T,P379846_S,PDIA2,Silent,NM_006849,exon4,c.C588T,p.D196D,SNP,SNVindel,exonic,PDIA2,NA,synonymous SNV,PDIA2:NM_006849:exon4:c.C588T:p.D196D,NA,NA,NA,NA,NA,NA
chr16,2296983,2296983,G,A,P379846_S,ECI1,Silent,NM_001178029,exon3,c.C171T,p.V57V,SNP,SNVindel,exonic,ECI1,NA,synonymous SNV,"ECI1:NM_001178029:exon3:c.C171T:p.V57V,ECI1:NM_001919:exon3:c.C171T:p.V57V",NA,NA,NA,NA,NA,NA
chr16,2506675,2506675,C,T,P379846_S,CCNF,Missense_Mutation,NM_001323538,exon16,c.C1091T,p.A364V,SNP,SNVindel,exonic,CCNF,NA,nonsynonymous SNV,"CCNF:NM_001323538:exon16:c.C1091T:p.A364V,CCNF:NM_001761:exon17:c.C2015T:p.A672V",T,N,N,T,N,T
chr16,71465833,71465833,G,T,P379846_S,TLE7,Missense_Mutation,NM_001367365,exon6,c.C682A,p.Q228K,SNP,SNVindel,exonic,TLE7,NA,nonsynonymous SNV,TLE7:NM_001367365:exon6:c.C682A:p.Q228K,NA,NA,NA,NA,NA,NA
chr17,7577538,7577538,C,T,P379846_S,TP53,Missense_Mutation,NM_001126115,exon3,c.G347A,p.R116Q,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon3:c.G347A:p.R116Q,TP53:NM_001126116:exon3:c.G347A:p.R116Q,TP53:NM_001126117:exon3:c.G347A:p.R116Q,TP53:NM_001276697:exon3:c.G266A:p.R89Q,TP53:NM_001276698:exon3:c.G266A:p.R89Q,TP53:NM_001276699:exon3:c.G266A:p.R89Q,TP53:NM_001126118:exon6:c.G626A:p.R209Q,TP53:NM_000546:exon7:c.G743A:p.R248Q,TP53:NM_001126112:exon7:c.G743A:p.R248Q,TP53:NM_001126113:exon7:c.G743A:p.R248Q,TP53:NM_001126114:exon7:c.G743A:p.R248Q,TP53:NM_001276695:exon7:c.G626A:p.R209Q,TP53:NM_001276696:exon7:c.G626A:p.R209Q,TP53:NM_001276760:exon7:c.G626A:p.R209Q,TP53:NM_001276761:exon7:c.G626A:p.R209Q",D,D,A,D,D,D
chr17,37900418,37900418,G,A,P379846_S,GRB7,Silent,NM_001030002,exon7,c.G759A,p.L253L,SNP,SNVindel,exonic,GRB7,NA,synonymous SNV,"GRB7:NM_001030002:exon7:c.G759A:p.L253L,GRB7:NM_001242442:exon7:c.G828A:p.L276L,GRB7:NM_001242443:exon7:c.G759A:p.L253L,GRB7:NM_001330207:exon7:c.G759A:p.L253L,GRB7:NM_005310:exon7:c.G759A:p.L253L",NA,NA,NA,NA,NA,NA
chr17,60003986,60003986,A,C,P379846_S,INTS2,Missense_Mutation,NM_001330417,exon2,c.T20G,p.L7R,SNP,SNVindel,exonic,INTS2,NA,nonsynonymous SNV,"INTS2:NM_001330417:exon2:c.T20G:p.L7R,INTS2:NM_001351695:exon2:c.T20G:p.L7R,INTS2:NM_020748:exon2:c.T44G:p.L15R",D,D,D,T,N,T
chr17,71205885,71205885,C,T,P379846_S,FAM104A,Missense_Mutation,NM_001289410,exon2,c.G244A,p.G82R,SNP,SNVindel,exonic,FAM104A,NA,nonsynonymous SNV,"FAM104A:NM_001289410:exon2:c.G244A:p.G82R,FAM104A:NM_001289411:exon3:c.G262A:p.G88R,FAM104A:NM_032837:exon3:c.G344A:p.G115E,FAM104A:NM_001098832:exon4:c.G407A:p.G136E,FAM104A:NM_001289412:exon4:c.G206A:p.G69E",T,N,D,T,D,T
chr18,29040894,29040894,C,T,P379846_S,DSG3,Silent,NM_001944,exon7,c.C783T,p.N261N,SNP,SNVindel,exonic,DSG3,NA,synonymous SNV,DSG3:NM_001944:exon7:c.C783T:p.N261N,NA,NA,NA,NA,NA,NA
chr19,3831486,3831486,G,A,P379846_S,ZFR2,Missense_Mutation,NM_015174,exon5,c.C667T,p.P223S,SNP,SNVindel,exonic,ZFR2,NA,nonsynonymous SNV,ZFR2:NM_015174:exon5:c.C667T:p.P223S,T,N,N,T,N,T
chr19,11517463,11517463,G,A,P379846_S,RGL3,Nonsense_Mutation,NM_001035223,exon6,c.C715T,p.Q239X,SNP,SNVindel,exonic,RGL3,NA,stopgain,"RGL3:NM_001035223:exon6:c.C715T:p.Q239X,RGL3:NM_001161616:exon6:c.C715T:p.Q239X",.,N,A,.,.,.
chr19,36342266,36342266,C,T,P379846_S,NPHS1,Missense_Mutation,NM_004646,exon3,c.G295A,p.E99K,SNP,SNVindel,exonic,NPHS1,NA,nonsynonymous SNV,NPHS1:NM_004646:exon3:c.G295A:p.E99K,T,N,N,T,N,T
chr19,43585334,43585334,T,G,P379846_S,PSG2,Silent,NM_031246,exon2,c.A129C,p.P43P,SNP,SNVindel,exonic,PSG2,NA,synonymous SNV,PSG2:NM_031246:exon2:c.A129C:p.P43P,NA,NA,NA,NA,NA,NA
chr19,50939915,50939915,G,A,P379846_S,MYBPC2,Silent,NM_004533,exon5,c.G387A,p.G129G,SNP,SNVindel,exonic,MYBPC2,NA,synonymous SNV,MYBPC2:NM_004533:exon5:c.G387A:p.G129G,NA,NA,NA,NA,NA,NA
chr19,52660686,52660686,C,T,P379846_S,ZNF836,Missense_Mutation,NM_001102657,exon5,c.G250A,p.E84K,SNP,SNVindel,exonic,ZNF836,NA,nonsynonymous SNV,ZNF836:NM_001102657:exon5:c.G250A:p.E84K,T,.,N,T,N,T
chr19,55106288,55106288,A,C,P379846_S,LILRA1,Missense_Mutation,NM_001278319,exon3,c.A229C,p.I77L,SNP,SNVindel,exonic,LILRA1,NA,nonsynonymous SNV,"LILRA1:NM_001278319:exon3:c.A229C:p.I77L,LILRA1:NM_001278318:exon4:c.A229C:p.I77L,LILRA1:NM_006863:exon4:c.A229C:p.I77L",T,N,N,T,N,T
chr19,55648547,55648547,G,A,P379846_S,TNNT1,Missense_Mutation,NM_001126133,exon10,c.C502T,p.R168W,SNP,SNVindel,exonic,TNNT1,NA,nonsynonymous SNV,"TNNT1:NM_001126133:exon10:c.C502T:p.R168W,TNNT1:NM_001126132:exon11:c.C535T:p.R179W,TNNT1:NM_001291774:exon11:c.C502T:p.R168W,TNNT1:NM_003283:exon11:c.C535T:p.R179W",D,D,D,D,D,D
chr20,5294762,5294762,C,T,P379846_S,PROKR2,Missense_Mutation,NM_144773,exon2,c.G254A,p.R85H,SNP,SNVindel,exonic,PROKR2,NA,nonsynonymous SNV,PROKR2:NM_144773:exon2:c.G254A:p.R85H,D,D,D,T,D,T
chr20,44520925,44520925,G,T,P379846_S,CTSA,Missense_Mutation,NM_000308,exon4,c.G374T,p.G125V,SNP,SNVindel,exonic,CTSA,NA,nonsynonymous SNV,"CTSA:NM_000308:exon4:c.G374T:p.G125V,CTSA:NM_001127695:exon4:c.G320T:p.G107V",D,D,D,D,D,D
chr20,57767883,57767883,C,T,P379846_S,ZNF831,Silent,NM_178457,exon1,c.C1809T,p.G603G,SNP,SNVindel,exonic,ZNF831,NA,synonymous SNV,ZNF831:NM_178457:exon1:c.C1809T:p.G603G,NA,NA,NA,NA,NA,NA
chr21,18933086,18933086,C,T,P379846_S,CXADR,Missense_Mutation,NM_001207066,exon5,c.C638T,p.T213I,SNP,SNVindel,exonic,CXADR,NA,nonsynonymous SNV,"CXADR:NM_001207066:exon5:c.C638T:p.T213I,CXADR:NM_001338:exon5:c.C638T:p.T213I",T,N,N,T,N,T
chr22,17265165,17265165,G,A,P379846_S,XKR3,Missense_Mutation,NM_001318251,exon4,c.C724T,p.R242C,SNP,SNVindel,exonic,XKR3,NA,nonsynonymous SNV,"XKR3:NM_001318251:exon4:c.C724T:p.R242C,XKR3:NM_175878:exon4:c.C724T:p.R242C",D,U,D,T,D,T
chr22,20128506,20128506,G,A,P379846_S,ZDHHC8,Missense_Mutation,NM_001185024,exon7,c.G865A,p.G289R,SNP,SNVindel,exonic,ZDHHC8,NA,nonsynonymous SNV,"ZDHHC8:NM_001185024:exon7:c.G865A:p.G289R,ZDHHC8:NM_013373:exon7:c.G865A:p.G289R",D,N,D,T,D,D
chr22,26165019,26165019,G,A,P379846_S,MYO18B,Missense_Mutation,NM_001318245,exon4,c.G1136A,p.R379Q,SNP,SNVindel,exonic,MYO18B,NA,nonsynonymous SNV,"MYO18B:NM_001318245:exon4:c.G1136A:p.R379Q,MYO18B:NM_032608:exon4:c.G1136A:p.R379Q",T,N,N,D,N,T
chr22,42910199,42910199,G,A,P379846_S,RRP7A,Missense_Mutation,NM_015703,exon6,c.C670T,p.R224W,SNP,SNVindel,exonic,RRP7A,NA,nonsynonymous SNV,RRP7A:NM_015703:exon6:c.C670T:p.R224W,D,D,D,T,D,T
chrX,7811911,7811911,G,A,P379846_S,VCX,Missense_Mutation,NM_013452,exon3,c.G475A,p.E159K,SNP,SNVindel,exonic,VCX,NA,nonsynonymous SNV,VCX:NM_013452:exon3:c.G475A:p.E159K,T,.,N,T,N,T
chrX,75649367,75649367,C,T,P379846_S,MAGEE1,Silent,NM_020932,exon1,c.C1044T,p.P348P,SNP,SNVindel,exonic,MAGEE1,NA,synonymous SNV,MAGEE1:NM_020932:exon1:c.C1044T:p.P348P,NA,NA,NA,NA,NA,NA
chrX,130217815,130217815,A,T,P379846_S,ARHGAP36,Missense_Mutation,NM_001330651,exon3,c.A19T,p.T7S,SNP,SNVindel,exonic,ARHGAP36,NA,nonsynonymous SNV,"ARHGAP36:NM_001330651:exon3:c.A19T:p.T7S,ARHGAP36:NM_001282607:exon4:c.A391T:p.T131S,ARHGAP36:NM_144967:exon4:c.A427T:p.T143S",T,N,N,T,N,T
chr1,9073660,9073660,G,A,P388862_F,SLC2A7,Missense_Mutation,NM_207420,exon8,c.C938T,p.A313V,SNP,SNVindel,exonic,SLC2A7,NA,nonsynonymous SNV,SLC2A7:NM_207420:exon8:c.C938T:p.A313V,D,D,D,T,D,T
chr1,22832727,22832727,C,A,P388862_F,ZBTB40,Missense_Mutation,NM_001330398,exon4,c.C1017A,p.S339R,SNP,SNVindel,exonic,ZBTB40,NA,nonsynonymous SNV,"ZBTB40:NM_001330398:exon4:c.C1017A:p.S339R,ZBTB40:NM_014870:exon6:c.C1353A:p.S451R,ZBTB40:NM_001083621:exon7:c.C1353A:p.S451R",D,D,N,T,N,T
chr1,24078313,24078313,T,G,P388862_F,ELOA,Silent,NM_003198,exon4,c.T1296G,p.S432S,SNP,SNVindel,exonic,ELOA,NA,synonymous SNV,ELOA:NM_003198:exon4:c.T1296G:p.S432S,NA,NA,NA,NA,NA,NA
chr1,70697952,70697952,A,T,P388862_F,SRSF11,Silent,NM_001350605,exon3,c.A339T,p.G113G,SNP,SNVindel,exonic,SRSF11,NA,synonymous SNV,"SRSF11:NM_001350605:exon3:c.A339T:p.G113G,SRSF11:NM_001190987:exon4:c.A339T:p.G113G,SRSF11:NM_001350606:exon4:c.A339T:p.G113G,SRSF11:NM_001350607:exon4:c.A339T:p.G113G,SRSF11:NM_001350608:exon4:c.A339T:p.G113G,SRSF11:NM_001350609:exon4:c.A339T:p.G113G,SRSF11:NM_004768:exon4:c.A339T:p.G113G",NA,NA,NA,NA,NA,NA
chr1,152487933,152487933,C,T,P388862_F,CRCT1,Missense_Mutation,NM_019060,exon2,c.C74T,p.P25L,SNP,SNVindel,exonic,CRCT1,NA,nonsynonymous SNV,CRCT1:NM_019060:exon2:c.C74T:p.P25L,.,N,N,T,D,T
chr1,158632636,158632636,G,A,P388862_F,SPTA1,Nonsense_Mutation,NM_003126,exon17,c.C2320T,p.R774X,SNP,SNVindel,exonic,SPTA1,NA,stopgain,SPTA1:NM_003126:exon17:c.C2320T:p.R774X,.,N,A,.,.,.
chr1,205814603,205814603,C,T,P388862_F,PM20D1,Silent,NM_152491,exon3,c.G339A,p.S113S,SNP,SNVindel,exonic,PM20D1,NA,synonymous SNV,PM20D1:NM_152491:exon3:c.G339A:p.S113S,NA,NA,NA,NA,NA,NA
chr1,228564858,228564858,C,T,P388862_F,OBSCN,Silent,NM_001098623,exon101,c.C23145T,p.R7715R,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon101:c.C23145T:p.R7715R,OBSCN:NM_001271223:exon112:c.C26016T:p.R8672R",NA,NA,NA,NA,NA,NA
chr1,248801903,248801903,C,T,P388862_F,OR2T35,Silent,NM_001001827,exon1,c.G657A,p.T219T,SNP,SNVindel,exonic,OR2T35,NA,synonymous SNV,OR2T35:NM_001001827:exon1:c.G657A:p.T219T,NA,NA,NA,NA,NA,NA
chr2,28827531,28827531,C,T,P388862_F,PLB1,Missense_Mutation,NM_001170585,exon40,c.C2833T,p.R945C,SNP,SNVindel,exonic,PLB1,NA,nonsynonymous SNV,"PLB1:NM_001170585:exon40:c.C2833T:p.R945C,PLB1:NM_153021:exon41:c.C2866T:p.R956C",D,N,D,T,D,T
chr2,72362395,72362395,G,A,P388862_F,CYP26B1,Missense_Mutation,NM_001277742,exon2,c.C358T,p.R120W,SNP,SNVindel,exonic,CYP26B1,NA,nonsynonymous SNV,"CYP26B1:NM_001277742:exon2:c.C358T:p.R120W,CYP26B1:NM_019885:exon3:c.C583T:p.R195W",D,D,D,T,D,D
chr2,152390749,152390749,C,T,P388862_F,NEB,Missense_Mutation,NM_004543,exon116,c.G16294A,p.A5432T,SNP,SNVindel,exonic,NEB,NA,nonsynonymous SNV,"NEB:NM_004543:exon116:c.G16294A:p.A5432T,NEB:NM_001164507:exon143:c.G21397A:p.A7133T,NEB:NM_001271208:exon143:c.G21397A:p.A7133T",T,N,D,T,N,T
chr3,54952591,54952591,G,A,P388862_F,LRTM1,Silent,NM_001304389,exon3,c.C705T,p.C235C,SNP,SNVindel,exonic,LRTM1,NA,synonymous SNV,"LRTM1:NM_001304389:exon3:c.C705T:p.C235C,LRTM1:NM_020678:exon3:c.C933T:p.C311C",NA,NA,NA,NA,NA,NA
chr4,1396956,1396956,C,T,P388862_F,NKX1-1,Missense_Mutation,NM_001290079,exon2,c.G1111A,p.G371R,SNP,SNVindel,exonic,NKX1-1,NA,nonsynonymous SNV,NKX1-1:NM_001290079:exon2:c.G1111A:p.G371R,D,.,.,D,N,D
chr4,10444962,10444962,C,T,P388862_F,ZNF518B,Silent,NM_053042,exon3,c.G2991A,p.A997A,SNP,SNVindel,exonic,ZNF518B,NA,synonymous SNV,ZNF518B:NM_053042:exon3:c.G2991A:p.A997A,NA,NA,NA,NA,NA,NA
chr5,160114992,160114992,C,T,P388862_F,ATP10B,Silent,NM_001366654,exon3,c.G222A,p.L74L,SNP,SNVindel,exonic,ATP10B,NA,synonymous SNV,"ATP10B:NM_001366654:exon3:c.G222A:p.L74L,ATP10B:NM_001366652:exon4:c.G90A:p.L30L,ATP10B:NM_001366653:exon4:c.G90A:p.L30L,ATP10B:NM_001366655:exon4:c.G90A:p.L30L,ATP10B:NM_001366656:exon4:c.G90A:p.L30L,ATP10B:NM_001366657:exon4:c.G90A:p.L30L,ATP10B:NM_025153:exon5:c.G90A:p.L30L",NA,NA,NA,NA,NA,NA
chr5,166712009,166712009,A,T,P388862_F,TENM2,Missense_Mutation,NM_001122679,exon2,c.A167T,p.H56L,SNP,SNVindel,exonic,TENM2,NA,nonsynonymous SNV,TENM2:NM_001122679:exon2:c.A167T:p.H56L,T,.,D,T,N,T
chr6,47847187,47847187,G,T,P388862_F,PTCHD4,Missense_Mutation,NM_001013732,exon3,c.C1393A,p.P465T,SNP,SNVindel,exonic,PTCHD4,NA,nonsynonymous SNV,PTCHD4:NM_001013732:exon3:c.C1393A:p.P465T,T,D,D,D,N,T
chr6,100838436,100838436,G,T,P388862_F,SIM1,Missense_Mutation,NM_005068,exon11,c.C2102A,p.S701Y,SNP,SNVindel,exonic,SIM1,NA,nonsynonymous SNV,SIM1:NM_005068:exon11:c.C2102A:p.S701Y,D,N,D,T,N,T
chr6,110081523,110081523,A,G,P388862_F,FIG4,Missense_Mutation,NM_014845,exon11,c.A1208G,p.Q403R,SNP,SNVindel,exonic,FIG4,NA,nonsynonymous SNV,FIG4:NM_014845:exon11:c.A1208G:p.Q403R,D,D,D,T,D,T
chr6,155458460,155458460,G,A,P388862_F,TIAM2,Silent,NM_012454,exon4,c.G1344A,p.A448A,SNP,SNVindel,exonic,TIAM2,NA,synonymous SNV,TIAM2:NM_012454:exon4:c.G1344A:p.A448A,NA,NA,NA,NA,NA,NA
chr7,57188024,57188024,C,T,P388862_F,ZNF479,Silent,NM_001370129,exon4,c.G1098A,p.S366S,SNP,SNVindel,exonic,ZNF479,NA,synonymous SNV,"ZNF479:NM_001370129:exon4:c.G1098A:p.S366S,ZNF479:NM_033273:exon5:c.G1098A:p.S366S",NA,NA,NA,NA,NA,NA
chr7,150771301,150771301,C,T,P388862_F,SLC4A2,Missense_Mutation,NM_001199693,exon16,c.C2684T,p.S895L,SNP,SNVindel,exonic,SLC4A2,NA,nonsynonymous SNV,"SLC4A2:NM_001199693:exon16:c.C2684T:p.S895L,SLC4A2:NM_001199694:exon16:c.C2669T:p.S890L,SLC4A2:NM_001199692:exon17:c.C2711T:p.S904L,SLC4A2:NM_003040:exon17:c.C2711T:p.S904L",D,D,D,D,D,D
chr8,52733228,52733228,G,A,P388862_F,PCMTD1,Missense_Mutation,NM_001286782,exon4,c.C529T,p.R177C,SNP,SNVindel,exonic,PCMTD1,NA,nonsynonymous SNV,"PCMTD1:NM_001286782:exon4:c.C529T:p.R177C,PCMTD1:NM_001286783:exon6:c.C229T:p.R77C,PCMTD1:NM_052937:exon6:c.C757T:p.R253C",T,D,D,T,D,T
chr8,110456916,110456916,C,T,P388862_F,PKHD1L1,Silent,NM_177531,exon38,c.C4818T,p.V1606V,SNP,SNVindel,exonic,PKHD1L1,NA,synonymous SNV,PKHD1L1:NM_177531:exon38:c.C4818T:p.V1606V,NA,NA,NA,NA,NA,NA
chr11,320606,320606,G,T,P388862_F,IFITM3,Missense_Mutation,NM_021034,exon1,c.C208A,p.P70T,SNP,SNVindel,exonic,IFITM3,NA,nonsynonymous SNV,IFITM3:NM_021034:exon1:c.C208A:p.P70T,T,.,N,T,N,T
chr11,320649,320649,G,A,P388862_F,IFITM3,Silent,NM_021034,exon1,c.C165T,p.P55P,SNP,SNVindel,exonic,IFITM3,NA,synonymous SNV,IFITM3:NM_021034:exon1:c.C165T:p.P55P,NA,NA,NA,NA,NA,NA
chr11,5878131,5878131,G,A,P388862_F,OR52E8,Missense_Mutation,NM_001005168,exon1,c.C802T,p.R268C,SNP,SNVindel,exonic,OR52E8,NA,nonsynonymous SNV,OR52E8:NM_001005168:exon1:c.C802T:p.R268C,D,N,N,T,D,T
chr11,6891493,6891493,C,T,P388862_F,OR10A2,Missense_Mutation,NM_001004460,exon1,c.C508T,p.P170S,SNP,SNVindel,exonic,OR10A2,NA,nonsynonymous SNV,OR10A2:NM_001004460:exon1:c.C508T:p.P170S,D,D,N,T,D,T
chr11,47202122,47202122,G,A,P388862_F,PACSIN3,Missense_Mutation,NM_001184974,exon5,c.C331T,p.R111C,SNP,SNVindel,exonic,PACSIN3,NA,nonsynonymous SNV,"PACSIN3:NM_001184974:exon5:c.C331T:p.R111C,PACSIN3:NM_001184975:exon5:c.C331T:p.R111C,PACSIN3:NM_016223:exon5:c.C331T:p.R111C",D,D,D,T,D,T
chr11,48511148,48511148,A,T,P388862_F,OR4A47,Silent,NM_001005512,exon1,c.A804T,p.S268S,SNP,SNVindel,exonic,OR4A47,NA,synonymous SNV,OR4A47:NM_001005512:exon1:c.A804T:p.S268S,NA,NA,NA,NA,NA,NA
chr11,55761413,55761413,G,A,P388862_F,OR5F1,Missense_Mutation,NM_003697,exon1,c.C689T,p.S230L,SNP,SNVindel,exonic,OR5F1,NA,nonsynonymous SNV,OR5F1:NM_003697:exon1:c.C689T:p.S230L,D,.,N,T,D,T
chr11,66238807,66238807,G,A,P388862_F,PELI3,Missense_Mutation,NM_001098510,exon3,c.G247A,p.V83I,SNP,SNVindel,exonic,PELI3,NA,nonsynonymous SNV,"PELI3:NM_001098510:exon3:c.G247A:p.V83I,PELI3:NM_145065:exon4:c.G319A:p.V107I",T,N,D,T,N,T
chr11,118764714,118764714,C,T,P388862_F,CXCR5,Missense_Mutation,NM_032966,exon1,c.C326T,p.A109V,SNP,SNVindel,exonic,CXCR5,NA,nonsynonymous SNV,"CXCR5:NM_032966:exon1:c.C326T:p.A109V,CXCR5:NM_001716:exon2:c.C461T:p.A154V",D,D,D,T,D,T
chr12,57864983,57864983,C,T,P388862_F,GLI1,Silent,NM_001160045,exon10,c.C2076T,p.C692C,SNP,SNVindel,exonic,GLI1,NA,synonymous SNV,"GLI1:NM_001160045:exon10:c.C2076T:p.C692C,GLI1:NM_001167609:exon11:c.C2337T:p.C779C,GLI1:NM_005269:exon12:c.C2460T:p.C820C",NA,NA,NA,NA,NA,NA
chr12,64519802,64519802,G,A,P388862_F,SRGAP1,Missense_Mutation,NM_001346201,exon19,c.G2201A,p.R734Q,SNP,SNVindel,exonic,SRGAP1,NA,nonsynonymous SNV,"SRGAP1:NM_001346201:exon19:c.G2201A:p.R734Q,SRGAP1:NM_020762:exon19:c.G2270A:p.R757Q",D,U,D,T,D,T
chr12,96311039,96311039,G,A,P388862_F,CCDC38,Nonsense_Mutation,NM_182496,exon4,c.C172T,p.Q58X,SNP,SNVindel,exonic,CCDC38,NA,stopgain,CCDC38:NM_182496:exon4:c.C172T:p.Q58X,.,N,A,.,.,.
chr12,130855883,130855883,T,A,P388862_F,PIWIL1,Silent,NM_001190971,exon20,c.T2484A,p.T828T,SNP,SNVindel,exonic,PIWIL1,NA,synonymous SNV,PIWIL1:NM_001190971:exon20:c.T2484A:p.T828T,NA,NA,NA,NA,NA,NA
chr13,29675013,29675013,G,A,P388862_F,MTUS2,Silent,NM_001033602,exon3,c.G2550A,p.A850A,SNP,SNVindel,exonic,MTUS2,NA,synonymous SNV,"MTUS2:NM_001033602:exon3:c.G2550A:p.A850A,MTUS2:NM_001366650:exon5:c.G2547A:p.A849A",NA,NA,NA,NA,NA,NA
chr16,82033682,82033682,G,A,P388862_F,SDR42E1,Silent,NM_145168,exon3,c.C216T,p.D72D,SNP,SNVindel,exonic,SDR42E1,NA,synonymous SNV,SDR42E1:NM_145168:exon3:c.C216T:p.D72D,NA,NA,NA,NA,NA,NA
chr16,89661937,89661937,G,A,P388862_F,CPNE7,Missense_Mutation,NM_153636,exon14,c.G1465A,p.V489I,SNP,SNVindel,exonic,CPNE7,NA,nonsynonymous SNV,"CPNE7:NM_153636:exon14:c.G1465A:p.V489I,CPNE7:NM_014427:exon16:c.G1690A:p.V564I",T,N,N,T,N,T
chr17,10435167,10435167,A,G,P388862_F,MYH2,Missense_Mutation,NM_001100112,exon22,c.T2480C,p.F827S,SNP,SNVindel,exonic,MYH2,NA,nonsynonymous SNV,"MYH2:NM_001100112:exon22:c.T2480C:p.F827S,MYH2:NM_017534:exon22:c.T2480C:p.F827S",D,U,D,T,D,D
chr17,18925388,18925388,G,A,P388862_F,GRAP,Missense_Mutation,NM_006613,exon5,c.C538T,p.R180C,SNP,SNVindel,exonic,GRAP,NA,nonsynonymous SNV,GRAP:NM_006613:exon5:c.C538T:p.R180C,T,N,D,T,D,T
chr17,34308401,34308401,G,A,P388862_F,CCL16,Missense_Mutation,NM_004590,exon1,c.C56T,p.S19L,SNP,SNVindel,exonic,CCL16,NA,nonsynonymous SNV,CCL16:NM_004590:exon1:c.C56T:p.S19L,.,.,N,.,.,T
chr17,39620427,39620427,G,C,P388862_F,KRT32,Missense_Mutation,NM_002278,exon5,c.C899G,p.T300R,SNP,SNVindel,exonic,KRT32,NA,nonsynonymous SNV,KRT32:NM_002278:exon5:c.C899G:p.T300R,D,N,N,T,D,T
chr18,63476994,63476994,G,A,P388862_F,CDH7,Missense_Mutation,NM_001317214,exon3,c.G265A,p.E89K,SNP,SNVindel,exonic,CDH7,NA,nonsynonymous SNV,"CDH7:NM_001317214:exon3:c.G265A:p.E89K,CDH7:NM_001362438:exon3:c.G265A:p.E89K,CDH7:NM_004361:exon3:c.G265A:p.E89K,CDH7:NM_033646:exon3:c.G265A:p.E89K",D,D,D,T,D,T
chr19,15133861,15133861,C,T,P388862_F,CCDC105,Missense_Mutation,NM_173482,exon7,c.C1430T,p.A477V,SNP,SNVindel,exonic,CCDC105,NA,nonsynonymous SNV,CCDC105:NM_173482:exon7:c.C1430T:p.A477V,D,N,N,T,N,T
chr19,44680772,44680772,G,C,P388862_F,ZNF226,Missense_Mutation,NM_001032372,exon6,c.G1357C,p.G453R,SNP,SNVindel,exonic,ZNF226,NA,nonsynonymous SNV,"ZNF226:NM_001032372:exon6:c.G1357C:p.G453R,ZNF226:NM_001032373:exon6:c.G1357C:p.G453R,ZNF226:NM_001319088:exon6:c.G1357C:p.G453R,ZNF226:NM_001319090:exon6:c.G1357C:p.G453R,ZNF226:NM_001319089:exon7:c.G1357C:p.G453R,ZNF226:NM_016444:exon7:c.G1357C:p.G453R",D,N,D,T,D,T
chr19,48342693,48342693,G,A,P388862_F,CRX,Silent,NM_000554,exon4,c.G369A,p.T123T,SNP,SNVindel,exonic,CRX,NA,synonymous SNV,CRX:NM_000554:exon4:c.G369A:p.T123T,NA,NA,NA,NA,NA,NA
chr21,16337095,16337095,T,C,P388862_F,NRIP1,Missense_Mutation,NM_003489,exon4,c.A3419G,p.N1140S,SNP,SNVindel,exonic,NRIP1,NA,nonsynonymous SNV,NRIP1:NM_003489:exon4:c.A3419G:p.N1140S,T,N,D,T,D,T
chr21,46020536,46020536,T,C,P388862_F,KRTAP10-7,Silent,NM_198689,exon1,c.T15C,p.T5T,SNP,SNVindel,exonic,KRTAP10-7,NA,synonymous SNV,KRTAP10-7:NM_198689:exon1:c.T15C:p.T5T,NA,NA,NA,NA,NA,NA
chr21,46020542,46020542,T,C,P388862_F,KRTAP10-7,Silent,NM_198689,exon1,c.T21C,p.S7S,SNP,SNVindel,exonic,KRTAP10-7,NA,synonymous SNV,KRTAP10-7:NM_198689:exon1:c.T21C:p.S7S,NA,NA,NA,NA,NA,NA
chr22,25120884,25120884,G,A,P388862_F,PIWIL3,Missense_Mutation,NM_001008496,exon18,c.C2228T,p.S743L,SNP,SNVindel,exonic,PIWIL3,NA,nonsynonymous SNV,"PIWIL3:NM_001008496:exon18:c.C2228T:p.S743L,PIWIL3:NM_001255975:exon18:c.C2201T:p.S734L",T,N,N,T,N,T
chr22,43996133,43996133,C,T,P388862_F,EFCAB6,Missense_Mutation,NM_198856,exon21,c.G2236A,p.E746K,SNP,SNVindel,exonic,EFCAB6,NA,nonsynonymous SNV,"EFCAB6:NM_198856:exon21:c.G2236A:p.E746K,EFCAB6:NM_022785:exon23:c.G2692A:p.E898K",D,N,N,T,N,T
chrX,147743636,147743636,A,T,P388862_F,AFF2,Missense_Mutation,NM_001169122,exon3,c.A376T,p.T126S,SNP,SNVindel,exonic,AFF2,NA,nonsynonymous SNV,"AFF2:NM_001169122:exon3:c.A376T:p.T126S,AFF2:NM_001169123:exon3:c.A376T:p.T126S,AFF2:NM_001169124:exon3:c.A388T:p.T130S,AFF2:NM_001169125:exon3:c.A376T:p.T126S,AFF2:NM_002025:exon3:c.A388T:p.T130S",T,N,N,T,N,T
chr1,22832727,22832727,C,A,P388862_S,ZBTB40,Missense_Mutation,NM_001330398,exon4,c.C1017A,p.S339R,SNP,SNVindel,exonic,ZBTB40,NA,nonsynonymous SNV,"ZBTB40:NM_001330398:exon4:c.C1017A:p.S339R,ZBTB40:NM_014870:exon6:c.C1353A:p.S451R,ZBTB40:NM_001083621:exon7:c.C1353A:p.S451R",D,D,N,T,N,T
chr1,24078313,24078313,T,G,P388862_S,ELOA,Silent,NM_003198,exon4,c.T1296G,p.S432S,SNP,SNVindel,exonic,ELOA,NA,synonymous SNV,ELOA:NM_003198:exon4:c.T1296G:p.S432S,NA,NA,NA,NA,NA,NA
chr1,70697952,70697952,A,T,P388862_S,SRSF11,Silent,NM_001350605,exon3,c.A339T,p.G113G,SNP,SNVindel,exonic,SRSF11,NA,synonymous SNV,"SRSF11:NM_001350605:exon3:c.A339T:p.G113G,SRSF11:NM_001190987:exon4:c.A339T:p.G113G,SRSF11:NM_001350606:exon4:c.A339T:p.G113G,SRSF11:NM_001350607:exon4:c.A339T:p.G113G,SRSF11:NM_001350608:exon4:c.A339T:p.G113G,SRSF11:NM_001350609:exon4:c.A339T:p.G113G,SRSF11:NM_004768:exon4:c.A339T:p.G113G",NA,NA,NA,NA,NA,NA
chr1,120438217,120438217,A,G,P388862_S,ADAM30,Missense_Mutation,NM_021794,exon1,c.T743C,p.I248T,SNP,SNVindel,exonic,ADAM30,NA,nonsynonymous SNV,ADAM30:NM_021794:exon1:c.T743C:p.I248T,D,N,N,T,D,T
chr1,145296448,145296448,T,A,P388862_S,NBPF10,Missense_Mutation,NM_001039703,exon3,c.T370A,p.Y124N,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon3:c.T370A:p.Y124N,NBPF10:NM_001302371:exon3:c.T370A:p.Y124N",NA,NA,NA,NA,NA,NA
chr1,158632636,158632636,G,A,P388862_S,SPTA1,Nonsense_Mutation,NM_003126,exon17,c.C2320T,p.R774X,SNP,SNVindel,exonic,SPTA1,NA,stopgain,SPTA1:NM_003126:exon17:c.C2320T:p.R774X,.,N,A,.,.,.
chr1,205814603,205814603,C,T,P388862_S,PM20D1,Silent,NM_152491,exon3,c.G339A,p.S113S,SNP,SNVindel,exonic,PM20D1,NA,synonymous SNV,PM20D1:NM_152491:exon3:c.G339A:p.S113S,NA,NA,NA,NA,NA,NA
chr1,228564858,228564858,C,T,P388862_S,OBSCN,Silent,NM_001098623,exon101,c.C23145T,p.R7715R,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon101:c.C23145T:p.R7715R,OBSCN:NM_001271223:exon112:c.C26016T:p.R8672R",NA,NA,NA,NA,NA,NA
chr1,248737167,248737167,G,A,P388862_S,OR2T34,Missense_Mutation,NM_001001821,exon1,c.C892T,p.R298C,SNP,SNVindel,exonic,OR2T34,NA,nonsynonymous SNV,OR2T34:NM_001001821:exon1:c.C892T:p.R298C,D,.,P,T,D,T
chr1,248801903,248801903,C,T,P388862_S,OR2T35,Silent,NM_001001827,exon1,c.G657A,p.T219T,SNP,SNVindel,exonic,OR2T35,NA,synonymous SNV,OR2T35:NM_001001827:exon1:c.G657A:p.T219T,NA,NA,NA,NA,NA,NA
chr2,43520012,43520012,C,A,P388862_S,THADA,Missense_Mutation,NM_001083953,exon32,c.G4779T,p.L1593F,SNP,SNVindel,exonic,THADA,NA,nonsynonymous SNV,"THADA:NM_001083953:exon32:c.G4779T:p.L1593F,THADA:NM_001345923:exon32:c.G4776T:p.L1592F,THADA:NM_001345924:exon32:c.G4656T:p.L1552F,THADA:NM_022065:exon32:c.G4779T:p.L1593F,THADA:NM_001345925:exon33:c.G4779T:p.L1593F",T,N,N,T,N,T
chr2,152390749,152390749,C,T,P388862_S,NEB,Missense_Mutation,NM_004543,exon116,c.G16294A,p.A5432T,SNP,SNVindel,exonic,NEB,NA,nonsynonymous SNV,"NEB:NM_004543:exon116:c.G16294A:p.A5432T,NEB:NM_001164507:exon143:c.G21397A:p.A7133T,NEB:NM_001271208:exon143:c.G21397A:p.A7133T",T,N,D,T,N,T
chr2,170371147,170371147,G,A,P388862_S,KLHL41,Missense_Mutation,NM_006063,exon2,c.G1174A,p.G392S,SNP,SNVindel,exonic,KLHL41,NA,nonsynonymous SNV,KLHL41:NM_006063:exon2:c.G1174A:p.G392S,T,D,D,T,N,D
chr2,196581454,196581454,T,G,P388862_S,SLC39A10,Missense_Mutation,NM_001127257,exon7,c.T1790G,p.L597R,SNP,SNVindel,exonic,SLC39A10,NA,nonsynonymous SNV,"SLC39A10:NM_001127257:exon7:c.T1790G:p.L597R,SLC39A10:NM_020342:exon7:c.T1790G:p.L597R",D,N,D,T,N,T
chr2,220097052,220097052,C,A,P388862_S,ANKZF1,Missense_Mutation,NM_001042410,exon4,c.C332A,p.S111Y,SNP,SNVindel,exonic,ANKZF1,NA,nonsynonymous SNV,"ANKZF1:NM_001042410:exon4:c.C332A:p.S111Y,ANKZF1:NM_018089:exon4:c.C332A:p.S111Y",D,N,D,T,D,T
chr3,54952591,54952591,G,A,P388862_S,LRTM1,Silent,NM_001304389,exon3,c.C705T,p.C235C,SNP,SNVindel,exonic,LRTM1,NA,synonymous SNV,"LRTM1:NM_001304389:exon3:c.C705T:p.C235C,LRTM1:NM_020678:exon3:c.C933T:p.C311C",NA,NA,NA,NA,NA,NA
chr4,10444962,10444962,C,T,P388862_S,ZNF518B,Silent,NM_053042,exon3,c.G2991A,p.A997A,SNP,SNVindel,exonic,ZNF518B,NA,synonymous SNV,ZNF518B:NM_053042:exon3:c.G2991A:p.A997A,NA,NA,NA,NA,NA,NA
chr4,87080467,87080467,C,A,P388862_S,MAPK10,Missense_Mutation,NM_001318067,exon3,c.G220T,p.A74S,SNP,SNVindel,exonic,MAPK10,NA,nonsynonymous SNV,"MAPK10:NM_001318067:exon3:c.G220T:p.A74S,MAPK10:NM_001351624:exon4:c.G106T:p.A36S,MAPK10:NM_001351625:exon4:c.G106T:p.A36S,MAPK10:NM_001363657:exon4:c.G106T:p.A36S,MAPK10:NM_002753:exon4:c.G220T:p.A74S,MAPK10:NM_138980:exon4:c.G106T:p.A36S,MAPK10:NM_138982:exon4:c.G220T:p.A74S",D,D,D,D,N,T
chr5,160114992,160114992,C,T,P388862_S,ATP10B,Silent,NM_001366654,exon3,c.G222A,p.L74L,SNP,SNVindel,exonic,ATP10B,NA,synonymous SNV,"ATP10B:NM_001366654:exon3:c.G222A:p.L74L,ATP10B:NM_001366652:exon4:c.G90A:p.L30L,ATP10B:NM_001366653:exon4:c.G90A:p.L30L,ATP10B:NM_001366655:exon4:c.G90A:p.L30L,ATP10B:NM_001366656:exon4:c.G90A:p.L30L,ATP10B:NM_001366657:exon4:c.G90A:p.L30L,ATP10B:NM_025153:exon5:c.G90A:p.L30L",NA,NA,NA,NA,NA,NA
chr5,166712009,166712009,A,T,P388862_S,TENM2,Missense_Mutation,NM_001122679,exon2,c.A167T,p.H56L,SNP,SNVindel,exonic,TENM2,NA,nonsynonymous SNV,TENM2:NM_001122679:exon2:c.A167T:p.H56L,T,.,D,T,N,T
chr6,27840992,27840992,A,T,P388862_S,HIST1H4L,Nonsense_Mutation,NM_003546,exon1,c.T297A,p.Y99X,SNP,SNVindel,exonic,HIST1H4L,NA,stopgain,HIST1H4L:NM_003546:exon1:c.T297A:p.Y99X,.,D,D,.,.,.
chr6,47847187,47847187,G,T,P388862_S,PTCHD4,Missense_Mutation,NM_001013732,exon3,c.C1393A,p.P465T,SNP,SNVindel,exonic,PTCHD4,NA,nonsynonymous SNV,PTCHD4:NM_001013732:exon3:c.C1393A:p.P465T,T,D,D,D,N,T
chr6,56327876,56327876,C,A,P388862_S,DST,Nonsense_Mutation,NM_015548,exon82,c.G15097T,p.E5033X,SNP,SNVindel,exonic,DST,NA,stopgain,"DST:NM_015548:exon82:c.G15097T:p.E5033X,DST:NM_183380:exon92:c.G16075T:p.E5359X,DST:NM_001144770:exon93:c.G16195T:p.E5399X,DST:NM_001144769:exon95:c.G16609T:p.E5537X",.,.,.,.,.,.
chr6,100838436,100838436,G,T,P388862_S,SIM1,Missense_Mutation,NM_005068,exon11,c.C2102A,p.S701Y,SNP,SNVindel,exonic,SIM1,NA,nonsynonymous SNV,SIM1:NM_005068:exon11:c.C2102A:p.S701Y,D,N,D,T,N,T
chr6,138752805,138752805,T,G,P388862_S,NHSL1,Missense_Mutation,NM_020464,exon5,c.A2689C,p.I897L,SNP,SNVindel,exonic,NHSL1,NA,nonsynonymous SNV,"NHSL1:NM_020464:exon5:c.A2689C:p.I897L,NHSL1:NM_001144060:exon6:c.A2677C:p.I893L",T,N,N,T,N,T
chr6,144033223,144033223,C,T,P388862_S,PHACTR2,Silent,NM_001100164,exon2,c.C117T,p.F39F,SNP,SNVindel,exonic,PHACTR2,NA,synonymous SNV,"PHACTR2:NM_001100164:exon2:c.C117T:p.F39F,PHACTR2:NM_001100165:exon2:c.C117T:p.F39F,PHACTR2:NM_001100166:exon2:c.C84T:p.F28F,PHACTR2:NM_014721:exon2:c.C84T:p.F28F",NA,NA,NA,NA,NA,NA
chr6,155458460,155458460,G,A,P388862_S,TIAM2,Silent,NM_012454,exon4,c.G1344A,p.A448A,SNP,SNVindel,exonic,TIAM2,NA,synonymous SNV,TIAM2:NM_012454:exon4:c.G1344A:p.A448A,NA,NA,NA,NA,NA,NA
chr6,160517500,160517500,T,G,P388862_S,IGF2R,Missense_Mutation,NM_000876,exon45,c.T6685G,p.S2229A,SNP,SNVindel,exonic,IGF2R,NA,nonsynonymous SNV,IGF2R:NM_000876:exon45:c.T6685G:p.S2229A,T,N,N,T,N,T
chr7,57188024,57188024,C,T,P388862_S,ZNF479,Silent,NM_001370129,exon4,c.G1098A,p.S366S,SNP,SNVindel,exonic,ZNF479,NA,synonymous SNV,"ZNF479:NM_001370129:exon4:c.G1098A:p.S366S,ZNF479:NM_033273:exon5:c.G1098A:p.S366S",NA,NA,NA,NA,NA,NA
chr7,141673429,141673429,T,C,P388862_S,TAS2R38,Missense_Mutation,NM_176817,exon1,c.A61G,p.I21V,SNP,SNVindel,exonic,TAS2R38,NA,nonsynonymous SNV,TAS2R38:NM_176817:exon1:c.A61G:p.I21V,T,N,N,T,N,T
chr8,70585462,70585462,T,C,P388862_S,SLCO5A1,Missense_Mutation,NM_001146009,exon8,c.A2024G,p.N675S,SNP,SNVindel,exonic,SLCO5A1,NA,nonsynonymous SNV,"SLCO5A1:NM_001146009:exon8:c.A2024G:p.N675S,SLCO5A1:NM_030958:exon10:c.A2189G:p.N730S",D,D,D,T,N,T
chr8,110456916,110456916,C,T,P388862_S,PKHD1L1,Silent,NM_177531,exon38,c.C4818T,p.V1606V,SNP,SNVindel,exonic,PKHD1L1,NA,synonymous SNV,PKHD1L1:NM_177531:exon38:c.C4818T:p.V1606V,NA,NA,NA,NA,NA,NA
chr9,90536712,90536712,T,C,P388862_S,SPATA31C1,Silent,NM_001145124,exon4,c.T1890C,p.S630S,SNP,SNVindel,exonic,SPATA31C1,NA,synonymous SNV,SPATA31C1:NM_001145124:exon4:c.T1890C:p.S630S,NA,NA,NA,NA,NA,NA
chr9,95482947,95482947,T,A,P388862_S,BICD2,Nonsense_Mutation,NM_001003800,exon4,c.A697T,p.K233X,SNP,SNVindel,exonic,BICD2,NA,stopgain,"BICD2:NM_001003800:exon4:c.A697T:p.K233X,BICD2:NM_015250:exon4:c.A697T:p.K233X",.,D,A,.,.,.
chr9,112705319,112705319,G,T,P388862_S,PALM2-AKAP2,Missense_Mutation,NM_001037293,exon7,c.G754T,p.D252Y,SNP,SNVindel,exonic,PALM2-AKAP2,NA,nonsynonymous SNV,"PALM2-AKAP2:NM_001037293:exon7:c.G754T:p.D252Y,PALM2-AKAP2:NM_053016:exon7:c.G850T:p.D284Y",D,.,D,T,N,T
chr10,62671207,62671207,A,G,P388862_S,RHOBTB1,Missense_Mutation,NM_001350904,exon3,c.T94C,p.C32R,SNP,SNVindel,exonic,RHOBTB1,NA,nonsynonymous SNV,"RHOBTB1:NM_001350904:exon3:c.T94C:p.C32R,RHOBTB1:NM_001350905:exon3:c.T94C:p.C32R,RHOBTB1:NM_014836:exon3:c.T94C:p.C32R,RHOBTB1:NM_001242359:exon4:c.T94C:p.C32R,RHOBTB1:NM_001350902:exon4:c.T94C:p.C32R,RHOBTB1:NM_001350903:exon4:c.T94C:p.C32R",D,D,D,T,D,T
chr10,64973834,64973834,G,C,P388862_S,JMJD1C,Missense_Mutation,NM_001322254,exon6,c.C1436G,p.T479S,SNP,SNVindel,exonic,JMJD1C,NA,nonsynonymous SNV,"JMJD1C:NM_001322254:exon6:c.C1436G:p.T479S,JMJD1C:NM_001282948:exon7:c.C1547G:p.T516S,JMJD1C:NM_001318153:exon7:c.C1229G:p.T410S,JMJD1C:NM_001322252:exon7:c.C1979G:p.T660S,JMJD1C:NM_001322258:exon7:c.C1436G:p.T479S,JMJD1C:NM_001318154:exon8:c.C1547G:p.T516S,JMJD1C:NM_032776:exon8:c.C2093G:p.T698S",T,N,N,T,N,T
chr10,100191042,100191042,C,G,P388862_S,HPS1,Missense_Mutation,NM_001322483,exon6,c.G145C,p.E49Q,SNP,SNVindel,exonic,HPS1,NA,nonsynonymous SNV,"HPS1:NM_001322483:exon6:c.G145C:p.E49Q,HPS1:NM_001322484:exon6:c.G145C:p.E49Q,HPS1:NM_001322485:exon6:c.G145C:p.E49Q,HPS1:NM_000195:exon7:c.G514C:p.E172Q,HPS1:NM_001322476:exon7:c.G514C:p.E172Q,HPS1:NM_001322477:exon7:c.G514C:p.E172Q,HPS1:NM_001322478:exon7:c.G514C:p.E172Q,HPS1:NM_001322479:exon7:c.G514C:p.E172Q,HPS1:NM_001322491:exon7:c.G514C:p.E172Q,HPS1:NM_182639:exon7:c.G514C:p.E172Q",D,D,D,T,D,T
chr11,6891493,6891493,C,T,P388862_S,OR10A2,Missense_Mutation,NM_001004460,exon1,c.C508T,p.P170S,SNP,SNVindel,exonic,OR10A2,NA,nonsynonymous SNV,OR10A2:NM_001004460:exon1:c.C508T:p.P170S,D,D,N,T,D,T
chr11,47202122,47202122,G,A,P388862_S,PACSIN3,Missense_Mutation,NM_001184974,exon5,c.C331T,p.R111C,SNP,SNVindel,exonic,PACSIN3,NA,nonsynonymous SNV,"PACSIN3:NM_001184974:exon5:c.C331T:p.R111C,PACSIN3:NM_001184975:exon5:c.C331T:p.R111C,PACSIN3:NM_016223:exon5:c.C331T:p.R111C",D,D,D,T,D,T
chr11,48511148,48511148,A,T,P388862_S,OR4A47,Silent,NM_001005512,exon1,c.A804T,p.S268S,SNP,SNVindel,exonic,OR4A47,NA,synonymous SNV,OR4A47:NM_001005512:exon1:c.A804T:p.S268S,NA,NA,NA,NA,NA,NA
chr11,55761413,55761413,G,A,P388862_S,OR5F1,Missense_Mutation,NM_003697,exon1,c.C689T,p.S230L,SNP,SNVindel,exonic,OR5F1,NA,nonsynonymous SNV,OR5F1:NM_003697:exon1:c.C689T:p.S230L,D,.,N,T,D,T
chr11,118764714,118764714,C,T,P388862_S,CXCR5,Missense_Mutation,NM_032966,exon1,c.C326T,p.A109V,SNP,SNVindel,exonic,CXCR5,NA,nonsynonymous SNV,"CXCR5:NM_032966:exon1:c.C326T:p.A109V,CXCR5:NM_001716:exon2:c.C461T:p.A154V",D,D,D,T,D,T
chr12,57864983,57864983,C,T,P388862_S,GLI1,Silent,NM_001160045,exon10,c.C2076T,p.C692C,SNP,SNVindel,exonic,GLI1,NA,synonymous SNV,"GLI1:NM_001160045:exon10:c.C2076T:p.C692C,GLI1:NM_001167609:exon11:c.C2337T:p.C779C,GLI1:NM_005269:exon12:c.C2460T:p.C820C",NA,NA,NA,NA,NA,NA
chr12,64519802,64519802,G,A,P388862_S,SRGAP1,Missense_Mutation,NM_001346201,exon19,c.G2201A,p.R734Q,SNP,SNVindel,exonic,SRGAP1,NA,nonsynonymous SNV,"SRGAP1:NM_001346201:exon19:c.G2201A:p.R734Q,SRGAP1:NM_020762:exon19:c.G2270A:p.R757Q",D,U,D,T,D,T
chr12,75601144,75601144,C,T,P388862_S,KCNC2,Missense_Mutation,NM_001260497,exon2,c.G620A,p.R207H,SNP,SNVindel,exonic,KCNC2,NA,nonsynonymous SNV,"KCNC2:NM_001260497:exon2:c.G620A:p.R207H,KCNC2:NM_001260498:exon2:c.G620A:p.R207H,KCNC2:NM_001260499:exon2:c.G620A:p.R207H,KCNC2:NM_139136:exon2:c.G620A:p.R207H,KCNC2:NM_139137:exon2:c.G620A:p.R207H,KCNC2:NM_153748:exon2:c.G620A:p.R207H",T,D,D,D,N,D
chr12,96311039,96311039,G,A,P388862_S,CCDC38,Nonsense_Mutation,NM_182496,exon4,c.C172T,p.Q58X,SNP,SNVindel,exonic,CCDC38,NA,stopgain,CCDC38:NM_182496:exon4:c.C172T:p.Q58X,.,N,A,.,.,.
chr12,111089025,111089025,T,G,P388862_S,HVCN1,Missense_Mutation,NM_001256413,exon5,c.A580C,p.N194H,SNP,SNVindel,exonic,HVCN1,NA,nonsynonymous SNV,"HVCN1:NM_001256413:exon5:c.A580C:p.N194H,HVCN1:NM_001040107:exon6:c.A640C:p.N214H,HVCN1:NM_032369:exon6:c.A640C:p.N214H",D,D,D,D,D,D
chr12,130855883,130855883,T,A,P388862_S,PIWIL1,Silent,NM_001190971,exon20,c.T2484A,p.T828T,SNP,SNVindel,exonic,PIWIL1,NA,synonymous SNV,PIWIL1:NM_001190971:exon20:c.T2484A:p.T828T,NA,NA,NA,NA,NA,NA
chr13,29675013,29675013,G,A,P388862_S,MTUS2,Silent,NM_001033602,exon3,c.G2550A,p.A850A,SNP,SNVindel,exonic,MTUS2,NA,synonymous SNV,"MTUS2:NM_001033602:exon3:c.G2550A:p.A850A,MTUS2:NM_001366650:exon5:c.G2547A:p.A849A",NA,NA,NA,NA,NA,NA
chr13,32805353,32805353,C,A,P388862_S,FRY,Missense_Mutation,NM_023037,exon41,c.C5443A,p.P1815T,SNP,SNVindel,exonic,FRY,NA,nonsynonymous SNV,FRY:NM_023037:exon41:c.C5443A:p.P1815T,.,D,D,.,.,T
chr13,32805354,32805354,C,A,P388862_S,FRY,Missense_Mutation,NM_023037,exon41,c.C5444A,p.P1815H,SNP,SNVindel,exonic,FRY,NA,nonsynonymous SNV,FRY:NM_023037:exon41:c.C5444A:p.P1815H,.,D,D,.,.,T
chr15,41059533,41059533,C,A,P388862_S,GCHFR,Missense_Mutation,NM_005258,exon3,c.C241A,p.L81M,SNP,SNVindel,exonic,GCHFR,NA,nonsynonymous SNV,GCHFR:NM_005258:exon3:c.C241A:p.L81M,T,D,D,.,N,T
chr16,82033682,82033682,G,A,P388862_S,SDR42E1,Silent,NM_145168,exon3,c.C216T,p.D72D,SNP,SNVindel,exonic,SDR42E1,NA,synonymous SNV,SDR42E1:NM_145168:exon3:c.C216T:p.D72D,NA,NA,NA,NA,NA,NA
chr16,89661937,89661937,G,A,P388862_S,CPNE7,Missense_Mutation,NM_153636,exon14,c.G1465A,p.V489I,SNP,SNVindel,exonic,CPNE7,NA,nonsynonymous SNV,"CPNE7:NM_153636:exon14:c.G1465A:p.V489I,CPNE7:NM_014427:exon16:c.G1690A:p.V564I",T,N,N,T,N,T
chr17,10435167,10435167,A,G,P388862_S,MYH2,Missense_Mutation,NM_001100112,exon22,c.T2480C,p.F827S,SNP,SNVindel,exonic,MYH2,NA,nonsynonymous SNV,"MYH2:NM_001100112:exon22:c.T2480C:p.F827S,MYH2:NM_017534:exon22:c.T2480C:p.F827S",D,U,D,T,D,D
chr17,18925388,18925388,G,A,P388862_S,GRAP,Missense_Mutation,NM_006613,exon5,c.C538T,p.R180C,SNP,SNVindel,exonic,GRAP,NA,nonsynonymous SNV,GRAP:NM_006613:exon5:c.C538T:p.R180C,T,N,D,T,D,T
chr17,39620427,39620427,G,C,P388862_S,KRT32,Missense_Mutation,NM_002278,exon5,c.C899G,p.T300R,SNP,SNVindel,exonic,KRT32,NA,nonsynonymous SNV,KRT32:NM_002278:exon5:c.C899G:p.T300R,D,N,N,T,D,T
chr18,51715314,51715314,G,C,P388862_S,MBD2,Missense_Mutation,NM_003927,exon3,c.C770G,p.T257S,SNP,SNVindel,exonic,MBD2,NA,nonsynonymous SNV,MBD2:NM_003927:exon3:c.C770G:p.T257S,T,D,D,D,D,D
chr18,63476994,63476994,G,A,P388862_S,CDH7,Missense_Mutation,NM_001317214,exon3,c.G265A,p.E89K,SNP,SNVindel,exonic,CDH7,NA,nonsynonymous SNV,"CDH7:NM_001317214:exon3:c.G265A:p.E89K,CDH7:NM_001362438:exon3:c.G265A:p.E89K,CDH7:NM_004361:exon3:c.G265A:p.E89K,CDH7:NM_033646:exon3:c.G265A:p.E89K",D,D,D,T,D,T
chr19,14854260,14854260,G,T,P388862_S,ADGRE2,Missense_Mutation,NM_001271052,exon18,c.C2261A,p.A754D,SNP,SNVindel,exonic,ADGRE2,NA,nonsynonymous SNV,"ADGRE2:NM_001271052:exon18:c.C2261A:p.A754D,ADGRE2:NM_013447:exon20:c.C2435A:p.A812D",T,.,N,T,N,T
chr19,15133861,15133861,C,T,P388862_S,CCDC105,Missense_Mutation,NM_173482,exon7,c.C1430T,p.A477V,SNP,SNVindel,exonic,CCDC105,NA,nonsynonymous SNV,CCDC105:NM_173482:exon7:c.C1430T:p.A477V,D,N,N,T,N,T
chr19,44680772,44680772,G,C,P388862_S,ZNF226,Missense_Mutation,NM_001032372,exon6,c.G1357C,p.G453R,SNP,SNVindel,exonic,ZNF226,NA,nonsynonymous SNV,"ZNF226:NM_001032372:exon6:c.G1357C:p.G453R,ZNF226:NM_001032373:exon6:c.G1357C:p.G453R,ZNF226:NM_001319088:exon6:c.G1357C:p.G453R,ZNF226:NM_001319090:exon6:c.G1357C:p.G453R,ZNF226:NM_001319089:exon7:c.G1357C:p.G453R,ZNF226:NM_016444:exon7:c.G1357C:p.G453R",D,N,D,T,D,T
chr19,48342693,48342693,G,A,P388862_S,CRX,Silent,NM_000554,exon4,c.G369A,p.T123T,SNP,SNVindel,exonic,CRX,NA,synonymous SNV,CRX:NM_000554:exon4:c.G369A:p.T123T,NA,NA,NA,NA,NA,NA
chr19,48807339,48807339,G,A,P388862_S,CCDC114,Nonsense_Mutation,NM_144577,exon7,c.C613T,p.Q205X,SNP,SNVindel,exonic,CCDC114,NA,stopgain,"CCDC114:NM_144577:exon7:c.C613T:p.Q205X,CCDC114:NM_001364171:exon9:c.C724T:p.Q242X",.,.,A,.,.,.
chr20,30510805,30510805,G,A,P388862_S,TTLL9,Missense_Mutation,NM_001367620,exon5,c.G274A,p.V92M,SNP,SNVindel,exonic,TTLL9,NA,nonsynonymous SNV,"TTLL9:NM_001367620:exon5:c.G274A:p.V92M,TTLL9:NM_001008409:exon8:c.G613A:p.V205M",D,D,D,T,N,T
chr21,16337095,16337095,T,C,P388862_S,NRIP1,Missense_Mutation,NM_003489,exon4,c.A3419G,p.N1140S,SNP,SNVindel,exonic,NRIP1,NA,nonsynonymous SNV,NRIP1:NM_003489:exon4:c.A3419G:p.N1140S,T,N,D,T,D,T
chr22,43996133,43996133,C,T,P388862_S,EFCAB6,Missense_Mutation,NM_198856,exon21,c.G2236A,p.E746K,SNP,SNVindel,exonic,EFCAB6,NA,nonsynonymous SNV,"EFCAB6:NM_198856:exon21:c.G2236A:p.E746K,EFCAB6:NM_022785:exon23:c.G2692A:p.E898K",D,N,N,T,N,T
chrX,32613956,32613956,A,T,P388862_S,DMD,Missense_Mutation,NM_000109,exon13,c.T1496A,p.V499D,SNP,SNVindel,exonic,DMD,NA,nonsynonymous SNV,"DMD:NM_000109:exon13:c.T1496A:p.V499D,DMD:NM_004006:exon13:c.T1520A:p.V507D,DMD:NM_004009:exon13:c.T1508A:p.V503D,DMD:NM_004010:exon13:c.T1151A:p.V384D",D,U,D,T,D,T
chrX,51075841,51075841,A,G,P388862_S,NUDT10,Silent,NM_001304963,exon1,c.A24G,p.T8T,SNP,SNVindel,exonic,NUDT10,NA,synonymous SNV,"NUDT10:NM_001304963:exon1:c.A24G:p.T8T,NUDT10:NM_153183:exon2:c.A24G:p.T8T",NA,NA,NA,NA,NA,NA
chrX,51075901,51075901,G,A,P388862_S,NUDT10,Silent,NM_001304963,exon1,c.G84A,p.E28E,SNP,SNVindel,exonic,NUDT10,NA,synonymous SNV,"NUDT10:NM_001304963:exon1:c.G84A:p.E28E,NUDT10:NM_153183:exon2:c.G84A:p.E28E",NA,NA,NA,NA,NA,NA
chrX,147743636,147743636,A,T,P388862_S,AFF2,Missense_Mutation,NM_001169122,exon3,c.A376T,p.T126S,SNP,SNVindel,exonic,AFF2,NA,nonsynonymous SNV,"AFF2:NM_001169122:exon3:c.A376T:p.T126S,AFF2:NM_001169123:exon3:c.A376T:p.T126S,AFF2:NM_001169124:exon3:c.A388T:p.T130S,AFF2:NM_001169125:exon3:c.A376T:p.T126S,AFF2:NM_002025:exon3:c.A388T:p.T130S",T,N,N,T,N,T
chr1,33359407,33359407,G,A,P395201_F,HPCA,Missense_Mutation,NM_002143,exon4,c.G526A,p.D176N,SNP,SNVindel,exonic,HPCA,NA,nonsynonymous SNV,HPCA:NM_002143:exon4:c.G526A:p.D176N,D,D,D,T,D,T
chr1,40432352,40432352,G,A,P395201_F,MFSD2A,Missense_Mutation,NM_001287808,exon5,c.G326A,p.R109Q,SNP,SNVindel,exonic,MFSD2A,NA,nonsynonymous SNV,"MFSD2A:NM_001287808:exon5:c.G326A:p.R109Q,MFSD2A:NM_001136493:exon7:c.G833A:p.R278Q,MFSD2A:NM_001287809:exon7:c.G677A:p.R226Q,MFSD2A:NM_001349821:exon7:c.G788A:p.R263Q,MFSD2A:NM_001349822:exon7:c.G794A:p.R265Q,MFSD2A:NM_001349823:exon7:c.G449A:p.R150Q,MFSD2A:NM_032793:exon7:c.G794A:p.R265Q",D,D,D,D,N,T
chr1,49511278,49511278,C,T,P395201_F,AGBL4,Missense_Mutation,NM_001323573,exon5,c.G608A,p.R203Q,SNP,SNVindel,exonic,AGBL4,NA,nonsynonymous SNV,"AGBL4:NM_001323573:exon5:c.G608A:p.R203Q,AGBL4:NM_001323574:exon5:c.G608A:p.R203Q,AGBL4:NM_001323575:exon5:c.G572A:p.R191Q,AGBL4:NM_032785:exon5:c.G572A:p.R191Q",D,N,D,T,D,T
chr1,161647336,161647336,G,A,P395201_F,FCGR2B,Missense_Mutation,NM_001002273,exon7,c.G866A,p.R289H,SNP,SNVindel,exonic,FCGR2B,NA,nonsynonymous SNV,"FCGR2B:NM_001002273:exon7:c.G866A:p.R289H,FCGR2B:NM_001002274:exon7:c.G869A:p.R290H,FCGR2B:NM_001190828:exon7:c.G905A:p.R302H,FCGR2B:NM_001002275:exon8:c.G923A:p.R308H,FCGR2B:NM_004001:exon8:c.G926A:p.R309H",T,N,N,T,N,T
chr1,175372281,175372281,G,A,P395201_F,TNR,Nonsense_Mutation,NM_001328635,exon4,c.C76T,p.Q26X,SNP,SNVindel,exonic,TNR,NA,stopgain,TNR:NM_001328635:exon4:c.C76T:p.Q26X,D,D,D,T,D,T
chr1,182551188,182551188,C,T,P395201_F,RNASEL,Missense_Mutation,NM_021133,exon4,c.G1772A,p.S591N,SNP,SNVindel,exonic,RNASEL,NA,nonsynonymous SNV,RNASEL:NM_021133:exon4:c.G1772A:p.S591N,T,N,N,T,N,T
chr1,192153478,192153478,C,T,P395201_F,RGS18,Missense_Mutation,NM_130782,exon5,c.C502T,p.P168S,SNP,SNVindel,exonic,RGS18,NA,nonsynonymous SNV,RGS18:NM_130782:exon5:c.C502T:p.P168S,D,D,D,T,D,D
chr1,237811774,237811774,C,T,P395201_F,RYR2,Missense_Mutation,NM_001035,exon49,c.C7373T,p.A2458V,SNP,SNVindel,exonic,RYR2,NA,nonsynonymous SNV,RYR2:NM_001035:exon49:c.C7373T:p.A2458V,D,D,D,D,D,D
chr1,248458296,248458296,G,A,P395201_F,OR2T12,Silent,NM_001004692,exon1,c.C585T,p.N195N,SNP,SNVindel,exonic,OR2T12,NA,synonymous SNV,OR2T12:NM_001004692:exon1:c.C585T:p.N195N,NA,NA,NA,NA,NA,NA
chr2,27456518,27456518,G,A,P395201_F,CAD,Missense_Mutation,NM_001306079,exon20,c.G3052A,p.V1018M,SNP,SNVindel,exonic,CAD,NA,nonsynonymous SNV,"CAD:NM_001306079:exon20:c.G3052A:p.V1018M,CAD:NM_004341:exon21:c.G3241A:p.V1081M",D,D,D,D,N,D
chr2,113479799,113479799,G,A,P395201_F,NT5DC4,Silent,NM_001350494,exon4,c.G243A,p.K81K,SNP,SNVindel,exonic,NT5DC4,NA,synonymous SNV,NT5DC4:NM_001350494:exon4:c.G243A:p.K81K,NA,NA,NA,NA,NA,NA
chr2,179648812,179648812,G,A,P395201_F,TTN,Silent,NM_003319,exon15,c.C2622T,p.H874H,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon15:c.C2622T:p.H874H,TTN:NM_133432:exon15:c.C2622T:p.H874H,TTN:NM_133437:exon15:c.C2622T:p.H874H,TTN:NM_001256850:exon16:c.C2760T:p.H920H,TTN:NM_001267550:exon16:c.C2760T:p.H920H,TTN:NM_133378:exon16:c.C2760T:p.H920H,TTN:NM_133379:exon16:c.C2760T:p.H920H",NA,NA,NA,NA,NA,NA
chr2,183850949,183850949,A,G,P395201_F,NCKAP1,Silent,NM_013436,exon10,c.T954C,p.N318N,SNP,SNVindel,exonic,NCKAP1,NA,synonymous SNV,"NCKAP1:NM_013436:exon10:c.T954C:p.N318N,NCKAP1:NM_205842:exon11:c.T972C:p.N324N",NA,NA,NA,NA,NA,NA
chr2,230678680,230678680,G,C,P395201_F,TRIP12,Missense_Mutation,NM_001284216,exon10,c.C857G,p.A286G,SNP,SNVindel,exonic,TRIP12,NA,nonsynonymous SNV,"TRIP12:NM_001284216:exon10:c.C857G:p.A286G,TRIP12:NM_001284215:exon12:c.C1766G:p.A589G,TRIP12:NM_001348316:exon12:c.C1766G:p.A589G,TRIP12:NM_001348317:exon12:c.C1766G:p.A589G,TRIP12:NM_001348318:exon12:c.C1766G:p.A589G,TRIP12:NM_001348331:exon12:c.C1766G:p.A589G,TRIP12:NM_004238:exon12:c.C1748G:p.A583G,TRIP12:NM_001284214:exon13:c.C1892G:p.A631G,TRIP12:NM_001348315:exon13:c.C1892G:p.A631G,TRIP12:NM_001348319:exon13:c.C1892G:p.A631G,TRIP12:NM_001348320:exon13:c.C1892G:p.A631G,TRIP12:NM_001348321:exon13:c.C1892G:p.A631G,TRIP12:NM_001348323:exon13:c.C1892G:p.A631G,TRIP12:NM_001348324:exon13:c.C1892G:p.A631G,TRIP12:NM_001348326:exon13:c.C1892G:p.A631G,TRIP12:NM_001348327:exon13:c.C1892G:p.A631G,TRIP12:NM_001348328:exon13:c.C1892G:p.A631G,TRIP12:NM_001348329:exon13:c.C1892G:p.A631G,TRIP12:NM_001348330:exon13:c.C1892G:p.A631G,TRIP12:NM_001348333:exon13:c.C1892G:p.A631G,TRIP12:NM_001348322:exon14:c.C1892G:p.A631G,TRIP12:NM_001348325:exon14:c.C1892G:p.A631G,TRIP12:NM_001348332:exon14:c.C1805G:p.A602G",D,D,D,T,D,T
chr3,3084089,3084089,C,T,P395201_F,CNTN4,Nonsense_Mutation,NM_001206956,exon12,c.C1507T,p.R503X,SNP,SNVindel,exonic,CNTN4,NA,stopgain,"CNTN4:NM_001206956:exon12:c.C1507T:p.R503X,CNTN4:NM_175613:exon12:c.C1510T:p.R504X,CNTN4:NM_001206955:exon20:c.C2494T:p.R832X,CNTN4:NM_001350095:exon21:c.C2494T:p.R832X,CNTN4:NM_175607:exon21:c.C2494T:p.R832X",.,D,A,.,.,.
chr3,39453515,39453515,A,G,P395201_F,RPSA,Silent,NM_001304288,exon6,c.A771G,p.V257V,SNP,SNVindel,exonic,RPSA,NA,synonymous SNV,"RPSA:NM_001304288:exon6:c.A771G:p.V257V,RPSA:NM_002295:exon6:c.A756G:p.V252V",NA,NA,NA,NA,NA,NA
chr3,46008498,46008498,C,T,P395201_F,FYCO1,Silent,NM_024513,exon8,c.G2328A,p.A776A,SNP,SNVindel,exonic,FYCO1,NA,synonymous SNV,FYCO1:NM_024513:exon8:c.G2328A:p.A776A,NA,NA,NA,NA,NA,NA
chr3,48457471,48457471,G,A,P395201_F,PLXNB1,Nonsense_Mutation,NM_001130082,exon18,c.C3586T,p.R1196X,SNP,SNVindel,exonic,PLXNB1,NA,stopgain,"PLXNB1:NM_001130082:exon18:c.C3586T:p.R1196X,PLXNB1:NM_002673:exon18:c.C3586T:p.R1196X",.,N,A,.,.,.
chr3,98073113,98073113,C,T,P395201_F,OR5K4,Missense_Mutation,NM_001005517,exon1,c.C416T,p.T139M,SNP,SNVindel,exonic,OR5K4,NA,nonsynonymous SNV,OR5K4:NM_001005517:exon1:c.C416T:p.T139M,D,U,N,T,N,T
chr5,1422009,1422009,G,A,P395201_F,SLC6A3,Silent,NM_001044,exon5,c.C774T,p.G258G,SNP,SNVindel,exonic,SLC6A3,NA,synonymous SNV,SLC6A3:NM_001044:exon5:c.C774T:p.G258G,NA,NA,NA,NA,NA,NA
chr5,93732192,93732192,C,T,P395201_F,KIAA0825,Silent,NM_001145678,exon17,c.G2910A,p.Q970Q,SNP,SNVindel,exonic,KIAA0825,NA,synonymous SNV,KIAA0825:NM_001145678:exon17:c.G2910A:p.Q970Q,NA,NA,NA,NA,NA,NA
chr5,149782759,149782759,C,T,P395201_F,CD74,Missense_Mutation,NM_001025159,exon7,c.G742A,p.G248S,SNP,SNVindel,exonic,CD74,NA,nonsynonymous SNV,CD74:NM_001025159:exon7:c.G742A:p.G248S,D,D,D,T,D,T
chr5,170343493,170343493,G,A,P395201_F,RANBP17,Missense_Mutation,NM_022897,exon9,c.G859A,p.A287T,SNP,SNVindel,exonic,RANBP17,NA,nonsynonymous SNV,RANBP17:NM_022897:exon9:c.G859A:p.A287T,T,D,D,T,N,T
chr6,37328234,37328234,C,T,P395201_F,RNF8,Nonsense_Mutation,NM_003958,exon2,c.C124T,p.R42X,SNP,SNVindel,exonic,RNF8,NA,stopgain,"RNF8:NM_003958:exon2:c.C124T:p.R42X,RNF8:NM_183078:exon2:c.C124T:p.R42X",.,D,A,.,.,.
chr6,159026344,159026344,C,T,P395201_F,TMEM181,Missense_Mutation,NM_020823,exon7,c.C949T,p.R317W,SNP,SNVindel,exonic,TMEM181,NA,nonsynonymous SNV,TMEM181:NM_020823:exon7:c.C949T:p.R317W,D,D,D,T,D,T
chr6,159660853,159660853,G,A,P395201_F,FNDC1,Silent,NM_032532,exon14,c.G4485A,p.T1495T,SNP,SNVindel,exonic,FNDC1,NA,synonymous SNV,FNDC1:NM_032532:exon14:c.G4485A:p.T1495T,NA,NA,NA,NA,NA,NA
chr7,5342464,5342464,C,T,P395201_F,SLC29A4,Missense_Mutation,NM_001040661,exon11,c.C1487T,p.T496M,SNP,SNVindel,exonic,SLC29A4,NA,nonsynonymous SNV,"SLC29A4:NM_001040661:exon11:c.C1487T:p.T496M,SLC29A4:NM_001300847:exon11:c.C1445T:p.T482M,SLC29A4:NM_153247:exon11:c.C1487T:p.T496M",T,D,D,T,N,T
chr7,100685810,100685810,C,T,P395201_F,MUC17,Missense_Mutation,NM_001040105,exon3,c.C11113T,p.R3705C,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.C11113T:p.R3705C,T,.,N,T,N,T
chr8,107718917,107718917,A,C,P395201_F,OXR1,Missense_Mutation,NM_181354,exon7,c.A1147C,p.T383P,SNP,SNVindel,exonic,OXR1,NA,nonsynonymous SNV,"OXR1:NM_181354:exon7:c.A1147C:p.T383P,OXR1:NM_001198532:exon8:c.A1171C:p.T391P,OXR1:NM_001198533:exon9:c.A1168C:p.T390P,OXR1:NM_018002:exon9:c.A1168C:p.T390P",T,N,N,T,N,T
chr9,94487223,94487223,C,T,P395201_F,ROR2,Missense_Mutation,NM_004560,exon9,c.G1553A,p.R518Q,SNP,SNVindel,exonic,ROR2,NA,nonsynonymous SNV,ROR2:NM_004560:exon9:c.G1553A:p.R518Q,T,N,D,D,N,T
chr9,138557559,138557559,G,A,P395201_F,LCN9,Missense_Mutation,NM_001001676,exon5,c.G436A,p.G146R,SNP,SNVindel,exonic,LCN9,NA,nonsynonymous SNV,LCN9:NM_001001676:exon5:c.G436A:p.G146R,D,N,N,T,D,T
chr9,140325527,140325527,G,A,P395201_F,NOXA1,Missense_Mutation,NM_001256068,exon5,c.G505A,p.G169R,SNP,SNVindel,exonic,NOXA1,NA,nonsynonymous SNV,"NOXA1:NM_001256068:exon5:c.G505A:p.G169R,NOXA1:NM_001256067:exon7:c.G673A:p.G225R,NOXA1:NM_006647:exon7:c.G673A:p.G225R",T,N,N,D,N,T
chr10,74098018,74098018,C,G,P395201_F,DNAJB12,Missense_Mutation,NM_001002762,exon6,c.G775C,p.V259L,SNP,SNVindel,exonic,DNAJB12,NA,nonsynonymous SNV,"DNAJB12:NM_001002762:exon6:c.G775C:p.V259L,DNAJB12:NM_001365080:exon6:c.G775C:p.V259L,DNAJB12:NM_001365081:exon6:c.G775C:p.V259L,DNAJB12:NM_017626:exon6:c.G775C:p.V259L",T,D,D,T,N,T
chr11,381703,381703,C,T,P395201_F,B4GALNT4,Nonsense_Mutation,NM_178537,exon20,c.C3031T,p.R1011X,SNP,SNVindel,exonic,B4GALNT4,NA,stopgain,B4GALNT4:NM_178537:exon20:c.C3031T:p.R1011X,.,D,D,.,.,.
chr11,17491748,17491748,C,A,P395201_F,ABCC8,Silent,NM_000352,exon3,c.G312T,p.L104L,SNP,SNVindel,exonic,ABCC8,NA,synonymous SNV,"ABCC8:NM_000352:exon3:c.G312T:p.L104L,ABCC8:NM_001287174:exon3:c.G312T:p.L104L,ABCC8:NM_001351295:exon3:c.G312T:p.L104L,ABCC8:NM_001351296:exon3:c.G312T:p.L104L,ABCC8:NM_001351297:exon3:c.G312T:p.L104L",NA,NA,NA,NA,NA,NA
chr11,45672248,45672248,C,T,P395201_F,CHST1,Missense_Mutation,NM_003654,exon4,c.G226A,p.V76M,SNP,SNVindel,exonic,CHST1,NA,nonsynonymous SNV,CHST1:NM_003654:exon4:c.G226A:p.V76M,D,D,D,D,N,D
chr11,49229949,49229949,G,A,P395201_F,FOLH1,Missense_Mutation,NM_001014986,exon1,c.C13T,p.L5F,SNP,SNVindel,exonic,FOLH1,NA,nonsynonymous SNV,"FOLH1:NM_001014986:exon1:c.C13T:p.L5F,FOLH1:NM_004476:exon1:c.C13T:p.L5F",D,U,N,T,N,T
chr11,62297424,62297424,C,T,P395201_F,AHNAK,Missense_Mutation,NM_001346445,exon5,c.G4465A,p.G1489S,SNP,SNVindel,exonic,AHNAK,NA,nonsynonymous SNV,"AHNAK:NM_001346445:exon5:c.G4465A:p.G1489S,AHNAK:NM_001346446:exon5:c.G4465A:p.G1489S,AHNAK:NM_001620:exon5:c.G4465A:p.G1489S",T,N,D,T,D,T
chr11,70332754,70332754,G,A,P395201_F,SHANK2,Missense_Mutation,NM_133266,exon10,c.C1880T,p.P627L,SNP,SNVindel,exonic,SHANK2,NA,nonsynonymous SNV,SHANK2:NM_133266:exon10:c.C1880T:p.P627L,D,D,D,T,D,D
chr11,123909168,123909168,G,A,P395201_F,OR10G7,Missense_Mutation,NM_001004463,exon1,c.C541T,p.P181S,SNP,SNVindel,exonic,OR10G7,NA,nonsynonymous SNV,OR10G7:NM_001004463:exon1:c.C541T:p.P181S,D,D,N,T,D,T
chr12,49916576,49916576,G,A,P395201_F,SPATS2,Missense_Mutation,NM_001293286,exon11,c.G1051A,p.V351I,SNP,SNVindel,exonic,SPATS2,NA,nonsynonymous SNV,"SPATS2:NM_001293286:exon11:c.G1051A:p.V351I,SPATS2:NM_023071:exon12:c.G1051A:p.V351I,SPATS2:NM_001293285:exon13:c.G1051A:p.V351I",D,D,D,.,N,T
chr12,52680993,52680993,C,T,P395201_F,KRT81,Silent,NM_002281,exon7,c.G1140A,p.Q380Q,SNP,SNVindel,exonic,KRT81,NA,synonymous SNV,KRT81:NM_002281:exon7:c.G1140A:p.Q380Q,NA,NA,NA,NA,NA,NA
chr12,109617045,109617045,C,T,P395201_F,ACACB,Silent,NM_001093,exon10,c.C1590T,p.I530I,SNP,SNVindel,exonic,ACACB,NA,synonymous SNV,ACACB:NM_001093:exon10:c.C1590T:p.I530I,NA,NA,NA,NA,NA,NA
chr12,112096636,112096636,A,G,P395201_F,BRAP,Silent,NM_006768,exon9,c.T1125C,p.H375H,SNP,SNVindel,exonic,BRAP,NA,synonymous SNV,BRAP:NM_006768:exon9:c.T1125C:p.H375H,NA,NA,NA,NA,NA,NA
chr13,25026558,25026558,G,A,P395201_F,PARP4,Silent,NM_006437,exon24,c.C3000T,p.F1000F,SNP,SNVindel,exonic,PARP4,NA,synonymous SNV,PARP4:NM_006437:exon24:c.C3000T:p.F1000F,NA,NA,NA,NA,NA,NA
chr13,88328077,88328077,G,T,P395201_F,SLITRK5,Missense_Mutation,NM_015567,exon2,c.G434T,p.R145L,SNP,SNVindel,exonic,SLITRK5,NA,nonsynonymous SNV,SLITRK5:NM_015567:exon2:c.G434T:p.R145L,D,D,D,T,D,T
chr14,89337920,89337920,C,T,P395201_F,TTC8,Silent,NM_001366536,exon10,c.C957T,p.N319N,SNP,SNVindel,exonic,TTC8,NA,synonymous SNV,"TTC8:NM_001366536:exon10:c.C957T:p.N319N,TTC8:NM_001288782:exon11:c.C483T:p.N161N,TTC8:NM_001366535:exon11:c.C1047T:p.N349N,TTC8:NM_198310:exon11:c.C957T:p.N319N,TTC8:NM_001288783:exon12:c.C360T:p.N120N,TTC8:NM_198309:exon12:c.C1047T:p.N349N,TTC8:NM_001288781:exon13:c.C1125T:p.N375N,TTC8:NM_144596:exon13:c.C1077T:p.N359N",NA,NA,NA,NA,NA,NA
chr15,102346083,102346083,G,A,P395201_F,OR4F6,Missense_Mutation,NM_001005326,exon1,c.G161A,p.R54H,SNP,SNVindel,exonic,OR4F6,NA,nonsynonymous SNV,OR4F6:NM_001005326:exon1:c.G161A:p.R54H,T,N,N,T,N,T
chr16,815561,815561,G,A,P395201_F,MSLN,Missense_Mutation,NM_013404,exon9,c.G739A,p.A247T,SNP,SNVindel,exonic,MSLN,NA,nonsynonymous SNV,"MSLN:NM_013404:exon9:c.G739A:p.A247T,MSLN:NM_001177355:exon10:c.G739A:p.A247T,MSLN:NM_005823:exon10:c.G739A:p.A247T",T,U,N,T,N,T
chr16,30566566,30566566,G,T,P395201_F,ZNF764,Missense_Mutation,NM_001172679,exon3,c.C1173A,p.D391E,SNP,SNVindel,exonic,ZNF764,NA,nonsynonymous SNV,"ZNF764:NM_001172679:exon3:c.C1173A:p.D391E,ZNF764:NM_033410:exon3:c.C1176A:p.D392E",T,N,N,T,N,T
chr16,67692249,67692249,G,A,P395201_F,ACD,Silent,NM_001082486,exon10,c.C846T,p.P282P,SNP,SNVindel,exonic,ACD,NA,synonymous SNV,"ACD:NM_001082486:exon10:c.C846T:p.P282P,ACD:NM_022914:exon10:c.C837T:p.P279P",NA,NA,NA,NA,NA,NA
chr17,32961886,32961886,G,A,P395201_F,TMEM132E,Missense_Mutation,NM_001304438,exon7,c.G1757A,p.C586Y,SNP,SNVindel,exonic,TMEM132E,NA,nonsynonymous SNV,TMEM132E:NM_001304438:exon7:c.G1757A:p.C586Y,D,D,D,T,D,T
chr17,34171526,34171526,G,A,P395201_F,TAF15,Missense_Mutation,NM_003487,exon15,c.G1214A,p.R405H,SNP,SNVindel,exonic,TAF15,NA,nonsynonymous SNV,"TAF15:NM_003487:exon15:c.G1214A:p.R405H,TAF15:NM_139215:exon15:c.G1223A:p.R408H",.,.,D,D,.,T
chr17,39432066,39432066,G,T,P395201_F,KRTAP9-7,Silent,NM_001277332,exon1,c.G117T,p.V39V,SNP,SNVindel,exonic,KRTAP9-7,NA,synonymous SNV,KRTAP9-7:NM_001277332:exon1:c.G117T:p.V39V,NA,NA,NA,NA,NA,NA
chr17,72345344,72345344,G,A,P395201_F,KIF19,Missense_Mutation,NM_153209,exon10,c.G1069A,p.V357I,SNP,SNVindel,exonic,KIF19,NA,nonsynonymous SNV,KIF19:NM_153209:exon10:c.G1069A:p.V357I,T,.,D,T,N,T
chr18,63547695,63547695,C,T,P395201_F,CDH7,Silent,NM_001362438,exon12,c.C1923T,p.D641D,SNP,SNVindel,exonic,CDH7,NA,synonymous SNV,"CDH7:NM_001362438:exon12:c.C1923T:p.D641D,CDH7:NM_004361:exon12:c.C1923T:p.D641D,CDH7:NM_033646:exon12:c.C1923T:p.D641D",NA,NA,NA,NA,NA,NA
chr19,881647,881647,C,A,P395201_F,MED16,Silent,NM_005481,exon7,c.G1053T,p.V351V,SNP,SNVindel,exonic,MED16,NA,synonymous SNV,MED16:NM_005481:exon7:c.G1053T:p.V351V,NA,NA,NA,NA,NA,NA
chr19,1556837,1556837,G,A,P395201_F,MEX3D,Silent,NM_001174118,exon2,c.C681T,p.T227T,SNP,SNVindel,exonic,MEX3D,NA,synonymous SNV,"MEX3D:NM_001174118:exon2:c.C681T:p.T227T,MEX3D:NM_203304:exon2:c.C681T:p.T227T",NA,NA,NA,NA,NA,NA
chr19,3155835,3155835,G,A,P395201_F,GNA15,Missense_Mutation,NM_002068,exon5,c.G629A,p.G210E,SNP,SNVindel,exonic,GNA15,NA,nonsynonymous SNV,GNA15:NM_002068:exon5:c.G629A:p.G210E,D,U,D,D,D,D
chr19,4202875,4202875,G,T,P395201_F,ANKRD24,Missense_Mutation,NM_133475,exon7,c.G418T,p.V140L,SNP,SNVindel,exonic,ANKRD24,NA,nonsynonymous SNV,ANKRD24:NM_133475:exon7:c.G418T:p.V140L,T,.,N,T,N,T
chr19,33486938,33486938,C,T,P395201_F,RHPN2,Missense_Mutation,NM_033103,exon11,c.G1414A,p.V472I,SNP,SNVindel,exonic,RHPN2,NA,nonsynonymous SNV,RHPN2:NM_033103:exon11:c.G1414A:p.V472I,T,N,N,T,N,T
chr19,50902645,50902645,G,A,P395201_F,POLD1,Missense_Mutation,NM_001308632,exon2,c.G220A,p.A74T,SNP,SNVindel,exonic,POLD1,NA,nonsynonymous SNV,"POLD1:NM_001308632:exon2:c.G220A:p.A74T,POLD1:NM_001256849:exon3:c.G220A:p.A74T,POLD1:NM_002691:exon3:c.G220A:p.A74T",T,N,N,T,N,T
chr19,51920196,51920196,G,T,P395201_F,SIGLEC10,Missense_Mutation,NM_001171157,exon3,c.C430A,p.Q144K,SNP,SNVindel,exonic,SIGLEC10,NA,nonsynonymous SNV,"SIGLEC10:NM_001171157:exon3:c.C430A:p.Q144K,SIGLEC10:NM_001322105:exon3:c.C430A:p.Q144K,SIGLEC10:NM_033130:exon3:c.C430A:p.Q144K",T,N,N,T,N,T
chr20,35661275,35661275,G,A,P395201_F,RBL1,Silent,NM_001323281,exon15,c.C894T,p.V298V,SNP,SNVindel,exonic,RBL1,NA,synonymous SNV,"RBL1:NM_001323281:exon15:c.C894T:p.V298V,RBL1:NM_001323282:exon16:c.C894T:p.V298V,RBL1:NM_002895:exon16:c.C2175T:p.V725V,RBL1:NM_183404:exon16:c.C2175T:p.V725V",NA,NA,NA,NA,NA,NA
chr20,50048716,50048716,C,T,P395201_F,NFATC2,Silent,NM_001136021,exon9,c.G2550A,p.T850T,SNP,SNVindel,exonic,NFATC2,NA,synonymous SNV,"NFATC2:NM_001136021:exon9:c.G2550A:p.T850T,NFATC2:NM_001258292:exon9:c.G2550A:p.T850T,NFATC2:NM_001258294:exon9:c.G1953A:p.T651T,NFATC2:NM_001258295:exon9:c.G1953A:p.T651T,NFATC2:NM_001258296:exon9:c.G1953A:p.T651T,NFATC2:NM_001258297:exon9:c.G1953A:p.T651T,NFATC2:NM_012340:exon9:c.G2610A:p.T870T,NFATC2:NM_173091:exon9:c.G2610A:p.T870T",NA,NA,NA,NA,NA,NA
chr21,10971309,10971309,C,A,P395201_F,TPTE,Missense_Mutation,NM_199259,exon5,c.G48T,p.E16D,SNP,SNVindel,exonic,TPTE,NA,nonsynonymous SNV,"TPTE:NM_199259:exon5:c.G48T:p.E16D,TPTE:NM_199260:exon5:c.G48T:p.E16D,TPTE:NM_199261:exon5:c.G48T:p.E16D",NA,NA,NA,NA,NA,NA
chr21,40752452,40752452,C,T,P395201_F,GET1,Missense_Mutation,NM_001350293,exon1,c.C4T,p.P2S,SNP,SNVindel,exonic,GET1,NA,nonsynonymous SNV,GET1:NM_001350293:exon1:c.C4T:p.P2S,NA,NA,NA,NA,NA,NA
chr21,45561165,45561165,G,A,P395201_F,GATD3A,Missense_Mutation,NM_001320383,exon6,c.G641A,p.G214E,SNP,SNVindel,exonic,GATD3A,NA,nonsynonymous SNV,GATD3A:NM_001320383:exon6:c.G641A:p.G214E,.,.,.,.,.,.
chr22,50987925,50987925,G,A,P395201_F,KLHDC7B,Missense_Mutation,NM_138433,exon1,c.G3253A,p.E1085K,SNP,SNVindel,exonic,KLHDC7B,NA,nonsynonymous SNV,KLHDC7B:NM_138433:exon1:c.G3253A:p.E1085K,D,U,D,T,D,T
chrX,12937832,12937832,C,T,P395201_F,TLR8,Missense_Mutation,NM_138636,exon2,c.C673T,p.R225C,SNP,SNVindel,exonic,TLR8,NA,nonsynonymous SNV,"TLR8:NM_138636:exon2:c.C673T:p.R225C,TLR8:NM_016610:exon3:c.C727T:p.R243C",D,N,N,T,D,T
chrX,51488387,51488387,A,T,P395201_F,GSPT2,Silent,NM_018094,exon1,c.A1665T,p.T555T,SNP,SNVindel,exonic,GSPT2,NA,synonymous SNV,GSPT2:NM_018094:exon1:c.A1665T:p.T555T,NA,NA,NA,NA,NA,NA
chrX,69282772,69282772,C,T,P395201_F,OTUD6A,Missense_Mutation,NM_207320,exon1,c.C398T,p.A133V,SNP,SNVindel,exonic,OTUD6A,NA,nonsynonymous SNV,OTUD6A:NM_207320:exon1:c.C398T:p.A133V,T,N,N,T,N,T
chrX,129205069,129205069,C,T,P395201_F,ELF4,Missense_Mutation,NM_001127197,exon7,c.G755A,p.G252E,SNP,SNVindel,exonic,ELF4,NA,nonsynonymous SNV,"ELF4:NM_001127197:exon7:c.G755A:p.G252E,ELF4:NM_001421:exon7:c.G755A:p.G252E",D,D,D,D,D,D
chr1,40775956,40775956,C,T,P395201_S,COL9A2,Missense_Mutation,NM_001852,exon14,c.G718A,p.A240T,SNP,SNVindel,exonic,COL9A2,NA,nonsynonymous SNV,COL9A2:NM_001852:exon14:c.G718A:p.A240T,T,N,N,D,N,T
chr1,49511278,49511278,C,T,P395201_S,AGBL4,Missense_Mutation,NM_001323573,exon5,c.G608A,p.R203Q,SNP,SNVindel,exonic,AGBL4,NA,nonsynonymous SNV,"AGBL4:NM_001323573:exon5:c.G608A:p.R203Q,AGBL4:NM_001323574:exon5:c.G608A:p.R203Q,AGBL4:NM_001323575:exon5:c.G572A:p.R191Q,AGBL4:NM_032785:exon5:c.G572A:p.R191Q",D,N,D,T,D,T
chr1,161647336,161647336,G,A,P395201_S,FCGR2B,Missense_Mutation,NM_001002273,exon7,c.G866A,p.R289H,SNP,SNVindel,exonic,FCGR2B,NA,nonsynonymous SNV,"FCGR2B:NM_001002273:exon7:c.G866A:p.R289H,FCGR2B:NM_001002274:exon7:c.G869A:p.R290H,FCGR2B:NM_001190828:exon7:c.G905A:p.R302H,FCGR2B:NM_001002275:exon8:c.G923A:p.R308H,FCGR2B:NM_004001:exon8:c.G926A:p.R309H",T,N,N,T,N,T
chr1,162353323,162353323,C,T,P395201_S,C1orf226,Silent,NM_001085375,exon2,c.C669T,p.S223S,SNP,SNVindel,exonic,C1orf226,NA,synonymous SNV,"C1orf226:NM_001085375:exon2:c.C669T:p.S223S,C1orf226:NM_001135240:exon3:c.C798T:p.S266S",NA,NA,NA,NA,NA,NA
chr1,192153478,192153478,C,T,P395201_S,RGS18,Missense_Mutation,NM_130782,exon5,c.C502T,p.P168S,SNP,SNVindel,exonic,RGS18,NA,nonsynonymous SNV,RGS18:NM_130782:exon5:c.C502T:p.P168S,D,D,D,T,D,D
chr1,220366654,220366654,C,T,P395201_S,RAB3GAP2,Missense_Mutation,NM_012414,exon13,c.G1198A,p.A400T,SNP,SNVindel,exonic,RAB3GAP2,NA,nonsynonymous SNV,RAB3GAP2:NM_012414:exon13:c.G1198A:p.A400T,D,D,D,D,N,D
chr1,237811774,237811774,C,T,P395201_S,RYR2,Missense_Mutation,NM_001035,exon49,c.C7373T,p.A2458V,SNP,SNVindel,exonic,RYR2,NA,nonsynonymous SNV,RYR2:NM_001035:exon49:c.C7373T:p.A2458V,D,D,D,D,D,D
chr1,248458296,248458296,G,A,P395201_S,OR2T12,Silent,NM_001004692,exon1,c.C585T,p.N195N,SNP,SNVindel,exonic,OR2T12,NA,synonymous SNV,OR2T12:NM_001004692:exon1:c.C585T:p.N195N,NA,NA,NA,NA,NA,NA
chr1,249152343,249152343,A,T,P395201_S,ZNF692,Missense_Mutation,NM_001136036,exon2,c.T181A,p.F61I,SNP,SNVindel,exonic,ZNF692,NA,nonsynonymous SNV,"ZNF692:NM_001136036:exon2:c.T181A:p.F61I,ZNF692:NM_001193328:exon2:c.T166A:p.F56I,ZNF692:NM_001350072:exon2:c.T166A:p.F56I,ZNF692:NM_017865:exon2:c.T166A:p.F56I",D,D,N,T,N,T
chr2,27456518,27456518,G,A,P395201_S,CAD,Missense_Mutation,NM_001306079,exon20,c.G3052A,p.V1018M,SNP,SNVindel,exonic,CAD,NA,nonsynonymous SNV,"CAD:NM_001306079:exon20:c.G3052A:p.V1018M,CAD:NM_004341:exon21:c.G3241A:p.V1081M",D,D,D,D,N,D
chr2,79349234,79349234,C,T,P395201_S,REG1A,Missense_Mutation,NM_002909,exon4,c.C304T,p.L102F,SNP,SNVindel,exonic,REG1A,NA,nonsynonymous SNV,REG1A:NM_002909:exon4:c.C304T:p.L102F,D,N,D,T,D,T
chr2,113479799,113479799,G,A,P395201_S,NT5DC4,Silent,NM_001350494,exon4,c.G243A,p.K81K,SNP,SNVindel,exonic,NT5DC4,NA,synonymous SNV,NT5DC4:NM_001350494:exon4:c.G243A:p.K81K,NA,NA,NA,NA,NA,NA
chr2,179648812,179648812,G,A,P395201_S,TTN,Silent,NM_003319,exon15,c.C2622T,p.H874H,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon15:c.C2622T:p.H874H,TTN:NM_133432:exon15:c.C2622T:p.H874H,TTN:NM_133437:exon15:c.C2622T:p.H874H,TTN:NM_001256850:exon16:c.C2760T:p.H920H,TTN:NM_001267550:exon16:c.C2760T:p.H920H,TTN:NM_133378:exon16:c.C2760T:p.H920H,TTN:NM_133379:exon16:c.C2760T:p.H920H",NA,NA,NA,NA,NA,NA
chr2,183850949,183850949,A,G,P395201_S,NCKAP1,Silent,NM_013436,exon10,c.T954C,p.N318N,SNP,SNVindel,exonic,NCKAP1,NA,synonymous SNV,"NCKAP1:NM_013436:exon10:c.T954C:p.N318N,NCKAP1:NM_205842:exon11:c.T972C:p.N324N",NA,NA,NA,NA,NA,NA
chr2,191235776,191235776,G,A,P395201_S,INPP1,Missense_Mutation,NM_002194,exon6,c.G848A,p.R283H,SNP,SNVindel,exonic,INPP1,NA,nonsynonymous SNV,"INPP1:NM_002194:exon6:c.G848A:p.R283H,INPP1:NM_001128928:exon7:c.G848A:p.R283H",T,N,N,T,N,T
chr2,230678680,230678680,G,C,P395201_S,TRIP12,Missense_Mutation,NM_001284216,exon10,c.C857G,p.A286G,SNP,SNVindel,exonic,TRIP12,NA,nonsynonymous SNV,"TRIP12:NM_001284216:exon10:c.C857G:p.A286G,TRIP12:NM_001284215:exon12:c.C1766G:p.A589G,TRIP12:NM_001348316:exon12:c.C1766G:p.A589G,TRIP12:NM_001348317:exon12:c.C1766G:p.A589G,TRIP12:NM_001348318:exon12:c.C1766G:p.A589G,TRIP12:NM_001348331:exon12:c.C1766G:p.A589G,TRIP12:NM_004238:exon12:c.C1748G:p.A583G,TRIP12:NM_001284214:exon13:c.C1892G:p.A631G,TRIP12:NM_001348315:exon13:c.C1892G:p.A631G,TRIP12:NM_001348319:exon13:c.C1892G:p.A631G,TRIP12:NM_001348320:exon13:c.C1892G:p.A631G,TRIP12:NM_001348321:exon13:c.C1892G:p.A631G,TRIP12:NM_001348323:exon13:c.C1892G:p.A631G,TRIP12:NM_001348324:exon13:c.C1892G:p.A631G,TRIP12:NM_001348326:exon13:c.C1892G:p.A631G,TRIP12:NM_001348327:exon13:c.C1892G:p.A631G,TRIP12:NM_001348328:exon13:c.C1892G:p.A631G,TRIP12:NM_001348329:exon13:c.C1892G:p.A631G,TRIP12:NM_001348330:exon13:c.C1892G:p.A631G,TRIP12:NM_001348333:exon13:c.C1892G:p.A631G,TRIP12:NM_001348322:exon14:c.C1892G:p.A631G,TRIP12:NM_001348325:exon14:c.C1892G:p.A631G,TRIP12:NM_001348332:exon14:c.C1805G:p.A602G",D,D,D,T,D,T
chr2,242814668,242814668,C,T,P395201_S,RTP5,Missense_Mutation,NM_173821,exon2,c.C961T,p.H321Y,SNP,SNVindel,exonic,RTP5,NA,nonsynonymous SNV,RTP5:NM_173821:exon2:c.C961T:p.H321Y,D,.,N,T,N,T
chr3,3084089,3084089,C,T,P395201_S,CNTN4,Nonsense_Mutation,NM_001206956,exon12,c.C1507T,p.R503X,SNP,SNVindel,exonic,CNTN4,NA,stopgain,"CNTN4:NM_001206956:exon12:c.C1507T:p.R503X,CNTN4:NM_175613:exon12:c.C1510T:p.R504X,CNTN4:NM_001206955:exon20:c.C2494T:p.R832X,CNTN4:NM_001350095:exon21:c.C2494T:p.R832X,CNTN4:NM_175607:exon21:c.C2494T:p.R832X",.,D,A,.,.,.
chr3,17056204,17056204,C,T,P395201_S,PLCL2,Missense_Mutation,NM_015184,exon3,c.C2441T,p.A814V,SNP,SNVindel,exonic,PLCL2,NA,nonsynonymous SNV,PLCL2:NM_015184:exon3:c.C2441T:p.A814V,D,D,D,T,D,T
chr3,49694959,49694959,C,T,P395201_S,BSN,Missense_Mutation,NM_003458,exon5,c.C7970T,p.T2657I,SNP,SNVindel,exonic,BSN,NA,nonsynonymous SNV,BSN:NM_003458:exon5:c.C7970T:p.T2657I,D,N,N,T,N,T
chr3,98073113,98073113,C,T,P395201_S,OR5K4,Missense_Mutation,NM_001005517,exon1,c.C416T,p.T139M,SNP,SNVindel,exonic,OR5K4,NA,nonsynonymous SNV,OR5K4:NM_001005517:exon1:c.C416T:p.T139M,D,U,N,T,N,T
chr4,1729503,1729503,A,C,P395201_S,TACC3,Missense_Mutation,NM_006342,exon4,c.A374C,p.D125A,SNP,SNVindel,exonic,TACC3,NA,nonsynonymous SNV,TACC3:NM_006342:exon4:c.A374C:p.D125A,T,N,N,T,N,T
chr4,187195374,187195374,G,A,P395201_S,F11,Missense_Mutation,NM_000128,exon5,c.G430A,p.V144I,SNP,SNVindel,exonic,F11,NA,nonsynonymous SNV,"F11:NM_000128:exon5:c.G430A:p.V144I,F11:NM_001354804:exon5:c.G430A:p.V144I",T,N,N,D,N,T
chr5,68411138,68411138,C,T,P395201_S,SLC30A5,Silent,NM_022902,exon8,c.C687T,p.V229V,SNP,SNVindel,exonic,SLC30A5,NA,synonymous SNV,SLC30A5:NM_022902:exon8:c.C687T:p.V229V,NA,NA,NA,NA,NA,NA
chr5,93732192,93732192,C,T,P395201_S,KIAA0825,Silent,NM_001145678,exon17,c.G2910A,p.Q970Q,SNP,SNVindel,exonic,KIAA0825,NA,synonymous SNV,KIAA0825:NM_001145678:exon17:c.G2910A:p.Q970Q,NA,NA,NA,NA,NA,NA
chr5,120021872,120021872,G,A,P395201_S,PRR16,Missense_Mutation,NM_001300783,exon2,c.G383A,p.R128K,SNP,SNVindel,exonic,PRR16,NA,nonsynonymous SNV,"PRR16:NM_001300783:exon2:c.G383A:p.R128K,PRR16:NM_001308087:exon2:c.G173A:p.R58K,PRR16:NM_016644:exon3:c.G314A:p.R105K,PRR16:NM_001308088:exon4:c.G173A:p.R58K",D,D,D,T,N,T
chr5,149782759,149782759,C,T,P395201_S,CD74,Missense_Mutation,NM_001025159,exon7,c.G742A,p.G248S,SNP,SNVindel,exonic,CD74,NA,nonsynonymous SNV,CD74:NM_001025159:exon7:c.G742A:p.G248S,D,D,D,T,D,T
chr5,170343493,170343493,G,A,P395201_S,RANBP17,Missense_Mutation,NM_022897,exon9,c.G859A,p.A287T,SNP,SNVindel,exonic,RANBP17,NA,nonsynonymous SNV,RANBP17:NM_022897:exon9:c.G859A:p.A287T,T,D,D,T,N,T
chr6,37328234,37328234,C,T,P395201_S,RNF8,Nonsense_Mutation,NM_003958,exon2,c.C124T,p.R42X,SNP,SNVindel,exonic,RNF8,NA,stopgain,"RNF8:NM_003958:exon2:c.C124T:p.R42X,RNF8:NM_183078:exon2:c.C124T:p.R42X",.,D,A,.,.,.
chr6,159660853,159660853,G,A,P395201_S,FNDC1,Silent,NM_032532,exon14,c.G4485A,p.T1495T,SNP,SNVindel,exonic,FNDC1,NA,synonymous SNV,FNDC1:NM_032532:exon14:c.G4485A:p.T1495T,NA,NA,NA,NA,NA,NA
chr7,5342464,5342464,C,T,P395201_S,SLC29A4,Missense_Mutation,NM_001040661,exon11,c.C1487T,p.T496M,SNP,SNVindel,exonic,SLC29A4,NA,nonsynonymous SNV,"SLC29A4:NM_001040661:exon11:c.C1487T:p.T496M,SLC29A4:NM_001300847:exon11:c.C1445T:p.T482M,SLC29A4:NM_153247:exon11:c.C1487T:p.T496M",T,D,D,T,N,T
chr7,72954289,72954289,G,A,P395201_S,BCL7B,Missense_Mutation,NM_001707,exon4,c.C359T,p.S120F,SNP,SNVindel,exonic,BCL7B,NA,nonsynonymous SNV,"BCL7B:NM_001707:exon4:c.C359T:p.S120F,BCL7B:NM_001301061:exon5:c.C392T:p.S131F",D,N,D,T,D,T
chr7,100350352,100350352,C,T,P395201_S,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,.,N,N,T,N,T
chr7,100685810,100685810,C,T,P395201_S,MUC17,Missense_Mutation,NM_001040105,exon3,c.C11113T,p.R3705C,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.C11113T:p.R3705C,T,.,N,T,N,T
chr8,102678850,102678850,G,A,P395201_S,GRHL2,Silent,NM_001330593,exon16,c.G1749A,p.E583E,SNP,SNVindel,exonic,GRHL2,NA,synonymous SNV,"GRHL2:NM_001330593:exon16:c.G1749A:p.E583E,GRHL2:NM_024915:exon16:c.G1797A:p.E599E",NA,NA,NA,NA,NA,NA
chr9,94487223,94487223,C,T,P395201_S,ROR2,Missense_Mutation,NM_004560,exon9,c.G1553A,p.R518Q,SNP,SNVindel,exonic,ROR2,NA,nonsynonymous SNV,ROR2:NM_004560:exon9:c.G1553A:p.R518Q,T,N,D,D,N,T
chr9,137777116,137777116,A,C,P395201_S,FCN2,Silent,NM_015837,exon4,c.A219C,p.R73R,SNP,SNVindel,exonic,FCN2,NA,synonymous SNV,"FCN2:NM_015837:exon4:c.A219C:p.R73R,FCN2:NM_004108:exon5:c.A333C:p.R111R",NA,NA,NA,NA,NA,NA
chr10,43882553,43882553,G,A,P395201_S,HNRNPF,Silent,NM_001098208,exon3,c.C780T,p.F260F,SNP,SNVindel,exonic,HNRNPF,NA,synonymous SNV,"HNRNPF:NM_001098208:exon3:c.C780T:p.F260F,HNRNPF:NM_001098204:exon4:c.C780T:p.F260F,HNRNPF:NM_001098205:exon4:c.C780T:p.F260F,HNRNPF:NM_001098206:exon4:c.C780T:p.F260F,HNRNPF:NM_001098207:exon4:c.C780T:p.F260F,HNRNPF:NM_004966:exon4:c.C780T:p.F260F",NA,NA,NA,NA,NA,NA
chr10,74098018,74098018,C,G,P395201_S,DNAJB12,Missense_Mutation,NM_001002762,exon6,c.G775C,p.V259L,SNP,SNVindel,exonic,DNAJB12,NA,nonsynonymous SNV,"DNAJB12:NM_001002762:exon6:c.G775C:p.V259L,DNAJB12:NM_001365080:exon6:c.G775C:p.V259L,DNAJB12:NM_001365081:exon6:c.G775C:p.V259L,DNAJB12:NM_017626:exon6:c.G775C:p.V259L",T,D,D,T,N,T
chr11,17491748,17491748,C,A,P395201_S,ABCC8,Silent,NM_000352,exon3,c.G312T,p.L104L,SNP,SNVindel,exonic,ABCC8,NA,synonymous SNV,"ABCC8:NM_000352:exon3:c.G312T:p.L104L,ABCC8:NM_001287174:exon3:c.G312T:p.L104L,ABCC8:NM_001351295:exon3:c.G312T:p.L104L,ABCC8:NM_001351296:exon3:c.G312T:p.L104L,ABCC8:NM_001351297:exon3:c.G312T:p.L104L",NA,NA,NA,NA,NA,NA
chr11,49229949,49229949,G,A,P395201_S,FOLH1,Missense_Mutation,NM_001014986,exon1,c.C13T,p.L5F,SNP,SNVindel,exonic,FOLH1,NA,nonsynonymous SNV,"FOLH1:NM_001014986:exon1:c.C13T:p.L5F,FOLH1:NM_004476:exon1:c.C13T:p.L5F",D,U,N,T,N,T
chr11,62297424,62297424,C,T,P395201_S,AHNAK,Missense_Mutation,NM_001346445,exon5,c.G4465A,p.G1489S,SNP,SNVindel,exonic,AHNAK,NA,nonsynonymous SNV,"AHNAK:NM_001346445:exon5:c.G4465A:p.G1489S,AHNAK:NM_001346446:exon5:c.G4465A:p.G1489S,AHNAK:NM_001620:exon5:c.G4465A:p.G1489S",T,N,D,T,D,T
chr11,123909168,123909168,G,A,P395201_S,OR10G7,Missense_Mutation,NM_001004463,exon1,c.C541T,p.P181S,SNP,SNVindel,exonic,OR10G7,NA,nonsynonymous SNV,OR10G7:NM_001004463:exon1:c.C541T:p.P181S,D,D,N,T,D,T
chr12,49916576,49916576,G,A,P395201_S,SPATS2,Missense_Mutation,NM_001293286,exon11,c.G1051A,p.V351I,SNP,SNVindel,exonic,SPATS2,NA,nonsynonymous SNV,"SPATS2:NM_001293286:exon11:c.G1051A:p.V351I,SPATS2:NM_023071:exon12:c.G1051A:p.V351I,SPATS2:NM_001293285:exon13:c.G1051A:p.V351I",D,D,D,.,N,T
chr13,88328077,88328077,G,T,P395201_S,SLITRK5,Missense_Mutation,NM_015567,exon2,c.G434T,p.R145L,SNP,SNVindel,exonic,SLITRK5,NA,nonsynonymous SNV,SLITRK5:NM_015567:exon2:c.G434T:p.R145L,D,D,D,T,D,T
chr14,89337920,89337920,C,T,P395201_S,TTC8,Silent,NM_001366536,exon10,c.C957T,p.N319N,SNP,SNVindel,exonic,TTC8,NA,synonymous SNV,"TTC8:NM_001366536:exon10:c.C957T:p.N319N,TTC8:NM_001288782:exon11:c.C483T:p.N161N,TTC8:NM_001366535:exon11:c.C1047T:p.N349N,TTC8:NM_198310:exon11:c.C957T:p.N319N,TTC8:NM_001288783:exon12:c.C360T:p.N120N,TTC8:NM_198309:exon12:c.C1047T:p.N349N,TTC8:NM_001288781:exon13:c.C1125T:p.N375N,TTC8:NM_144596:exon13:c.C1077T:p.N359N",NA,NA,NA,NA,NA,NA
chr15,51988167,51988167,G,A,P395201_S,SCG3,Missense_Mutation,NM_001165257,exon7,c.G268A,p.E90K,SNP,SNVindel,exonic,SCG3,NA,nonsynonymous SNV,"SCG3:NM_001165257:exon7:c.G268A:p.E90K,SCG3:NM_013243:exon8:c.G964A:p.E322K",D,D,D,T,D,T
chr15,102346083,102346083,G,A,P395201_S,OR4F6,Missense_Mutation,NM_001005326,exon1,c.G161A,p.R54H,SNP,SNVindel,exonic,OR4F6,NA,nonsynonymous SNV,OR4F6:NM_001005326:exon1:c.G161A:p.R54H,T,N,N,T,N,T
chr16,30566566,30566566,G,T,P395201_S,ZNF764,Missense_Mutation,NM_001172679,exon3,c.C1173A,p.D391E,SNP,SNVindel,exonic,ZNF764,NA,nonsynonymous SNV,"ZNF764:NM_001172679:exon3:c.C1173A:p.D391E,ZNF764:NM_033410:exon3:c.C1176A:p.D392E",T,N,N,T,N,T
chr16,86544787,86544787,C,T,P395201_S,FOXF1,Silent,NM_001451,exon1,c.C612T,p.D204D,SNP,SNVindel,exonic,FOXF1,NA,synonymous SNV,FOXF1:NM_001451:exon1:c.C612T:p.D204D,NA,NA,NA,NA,NA,NA
chr17,72345344,72345344,G,A,P395201_S,KIF19,Missense_Mutation,NM_153209,exon10,c.G1069A,p.V357I,SNP,SNVindel,exonic,KIF19,NA,nonsynonymous SNV,KIF19:NM_153209:exon10:c.G1069A:p.V357I,T,.,D,T,N,T
chr18,63547695,63547695,C,T,P395201_S,CDH7,Silent,NM_001362438,exon12,c.C1923T,p.D641D,SNP,SNVindel,exonic,CDH7,NA,synonymous SNV,"CDH7:NM_001362438:exon12:c.C1923T:p.D641D,CDH7:NM_004361:exon12:c.C1923T:p.D641D,CDH7:NM_033646:exon12:c.C1923T:p.D641D",NA,NA,NA,NA,NA,NA
chr19,881647,881647,C,A,P395201_S,MED16,Silent,NM_005481,exon7,c.G1053T,p.V351V,SNP,SNVindel,exonic,MED16,NA,synonymous SNV,MED16:NM_005481:exon7:c.G1053T:p.V351V,NA,NA,NA,NA,NA,NA
chr19,1556837,1556837,G,A,P395201_S,MEX3D,Silent,NM_001174118,exon2,c.C681T,p.T227T,SNP,SNVindel,exonic,MEX3D,NA,synonymous SNV,"MEX3D:NM_001174118:exon2:c.C681T:p.T227T,MEX3D:NM_203304:exon2:c.C681T:p.T227T",NA,NA,NA,NA,NA,NA
chr19,3155835,3155835,G,A,P395201_S,GNA15,Missense_Mutation,NM_002068,exon5,c.G629A,p.G210E,SNP,SNVindel,exonic,GNA15,NA,nonsynonymous SNV,GNA15:NM_002068:exon5:c.G629A:p.G210E,D,U,D,D,D,D
chr19,4202875,4202875,G,T,P395201_S,ANKRD24,Missense_Mutation,NM_133475,exon7,c.G418T,p.V140L,SNP,SNVindel,exonic,ANKRD24,NA,nonsynonymous SNV,ANKRD24:NM_133475:exon7:c.G418T:p.V140L,T,.,N,T,N,T
chr19,50902645,50902645,G,A,P395201_S,POLD1,Missense_Mutation,NM_001308632,exon2,c.G220A,p.A74T,SNP,SNVindel,exonic,POLD1,NA,nonsynonymous SNV,"POLD1:NM_001308632:exon2:c.G220A:p.A74T,POLD1:NM_001256849:exon3:c.G220A:p.A74T,POLD1:NM_002691:exon3:c.G220A:p.A74T",T,N,N,T,N,T
chr19,51920196,51920196,G,T,P395201_S,SIGLEC10,Missense_Mutation,NM_001171157,exon3,c.C430A,p.Q144K,SNP,SNVindel,exonic,SIGLEC10,NA,nonsynonymous SNV,"SIGLEC10:NM_001171157:exon3:c.C430A:p.Q144K,SIGLEC10:NM_001322105:exon3:c.C430A:p.Q144K,SIGLEC10:NM_033130:exon3:c.C430A:p.Q144K",T,N,N,T,N,T
chr20,4158170,4158170,C,T,P395201_S,SMOX,Silent,NM_001270691,exon3,c.C381T,p.H127H,SNP,SNVindel,exonic,SMOX,NA,synonymous SNV,"SMOX:NM_001270691:exon3:c.C381T:p.H127H,SMOX:NM_175839:exon3:c.C381T:p.H127H,SMOX:NM_175840:exon3:c.C381T:p.H127H,SMOX:NM_175841:exon3:c.C381T:p.H127H,SMOX:NM_175842:exon3:c.C381T:p.H127H",NA,NA,NA,NA,NA,NA
chr20,49247392,49247392,A,G,P395201_S,RIPOR3,Missense_Mutation,NM_001290268,exon2,c.T5C,p.V2A,SNP,SNVindel,exonic,RIPOR3,NA,nonsynonymous SNV,RIPOR3:NM_001290268:exon2:c.T5C:p.V2A,NA,NA,NA,NA,NA,NA
chr20,50048716,50048716,C,T,P395201_S,NFATC2,Silent,NM_001136021,exon9,c.G2550A,p.T850T,SNP,SNVindel,exonic,NFATC2,NA,synonymous SNV,"NFATC2:NM_001136021:exon9:c.G2550A:p.T850T,NFATC2:NM_001258292:exon9:c.G2550A:p.T850T,NFATC2:NM_001258294:exon9:c.G1953A:p.T651T,NFATC2:NM_001258295:exon9:c.G1953A:p.T651T,NFATC2:NM_001258296:exon9:c.G1953A:p.T651T,NFATC2:NM_001258297:exon9:c.G1953A:p.T651T,NFATC2:NM_012340:exon9:c.G2610A:p.T870T,NFATC2:NM_173091:exon9:c.G2610A:p.T870T",NA,NA,NA,NA,NA,NA
chr21,10971309,10971309,C,A,P395201_S,TPTE,Missense_Mutation,NM_199259,exon5,c.G48T,p.E16D,SNP,SNVindel,exonic,TPTE,NA,nonsynonymous SNV,"TPTE:NM_199259:exon5:c.G48T:p.E16D,TPTE:NM_199260:exon5:c.G48T:p.E16D,TPTE:NM_199261:exon5:c.G48T:p.E16D",NA,NA,NA,NA,NA,NA
chr21,45561165,45561165,G,A,P395201_S,GATD3A,Missense_Mutation,NM_001320383,exon6,c.G641A,p.G214E,SNP,SNVindel,exonic,GATD3A,NA,nonsynonymous SNV,GATD3A:NM_001320383:exon6:c.G641A:p.G214E,.,.,.,.,.,.
chr22,50987925,50987925,G,A,P395201_S,KLHDC7B,Missense_Mutation,NM_138433,exon1,c.G3253A,p.E1085K,SNP,SNVindel,exonic,KLHDC7B,NA,nonsynonymous SNV,KLHDC7B:NM_138433:exon1:c.G3253A:p.E1085K,D,U,D,T,D,T
chrX,10417598,10417598,C,T,P395201_S,MID1,Missense_Mutation,NM_000381,exon10,c.G1814A,p.G605D,SNP,SNVindel,exonic,MID1,NA,nonsynonymous SNV,"MID1:NM_000381:exon10:c.G1814A:p.G605D,MID1:NM_001098624:exon10:c.G1814A:p.G605D,MID1:NM_001193277:exon10:c.G1814A:p.G605D,MID1:NM_001347733:exon10:c.G1814A:p.G605D,MID1:NM_033289:exon10:c.G1700A:p.G567D,MID1:NM_033290:exon10:c.G1814A:p.G605D",D,D,D,D,D,D
chrX,12937832,12937832,C,T,P395201_S,TLR8,Missense_Mutation,NM_138636,exon2,c.C673T,p.R225C,SNP,SNVindel,exonic,TLR8,NA,nonsynonymous SNV,"TLR8:NM_138636:exon2:c.C673T:p.R225C,TLR8:NM_016610:exon3:c.C727T:p.R243C",D,N,N,T,D,T
chr1,16383402,16383402,C,T,P398678_F,CLCNKB,Silent,NM_001165945,exon13,c.C1545T,p.A515A,SNP,SNVindel,exonic,CLCNKB,NA,synonymous SNV,"CLCNKB:NM_001165945:exon13:c.C1545T:p.A515A,CLCNKB:NM_000085:exon20:c.C2055T:p.A685A",NA,NA,NA,NA,NA,NA
chr1,42660664,42660664,T,G,P398678_F,FOXJ3,Missense_Mutation,NM_001198852,exon7,c.A729C,p.E243D,SNP,SNVindel,exonic,FOXJ3,NA,nonsynonymous SNV,"FOXJ3:NM_001198852:exon7:c.A729C:p.E243D,FOXJ3:NM_001198850:exon8:c.A831C:p.E277D,FOXJ3:NM_014947:exon8:c.A831C:p.E277D,FOXJ3:NM_001198851:exon10:c.A831C:p.E277D",T,N,D,T,N,T
chr1,54331938,54331938,G,C,P398678_F,YIPF1,Missense_Mutation,NM_018982,exon9,c.C766G,p.R256G,SNP,SNVindel,exonic,YIPF1,NA,nonsynonymous SNV,YIPF1:NM_018982:exon9:c.C766G:p.R256G,T,D,D,.,D,T
chr1,144823942,144823942,C,T,P398678_F,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,162729696,162729696,A,G,P398678_F,DDR2,Missense_Mutation,NM_001354982,exon8,c.A782G,p.N261S,SNP,SNVindel,exonic,DDR2,NA,nonsynonymous SNV,"DDR2:NM_001354982:exon8:c.A782G:p.N261S,DDR2:NM_001354983:exon8:c.A782G:p.N261S,DDR2:NM_006182:exon8:c.A782G:p.N261S,DDR2:NM_001014796:exon9:c.A782G:p.N261S",D,D,D,T,D,T
chr1,241850863,241850863,G,C,P398678_F,WDR64,Missense_Mutation,NM_001367482,exon8,c.G940C,p.V314L,SNP,SNVindel,exonic,WDR64,NA,nonsynonymous SNV,WDR64:NM_001367482:exon8:c.G940C:p.V314L,D,N,D,T,N,T
chr2,130832873,130832873,G,A,P398678_F,POTEF,Silent,NM_001099771,exon17,c.C2172T,p.D724D,SNP,SNVindel,exonic,POTEF,NA,synonymous SNV,POTEF:NM_001099771:exon17:c.C2172T:p.D724D,NA,NA,NA,NA,NA,NA
chr2,131356244,131356244,G,A,P398678_F,CFC1,Missense_Mutation,NM_001270420,exon3,c.C218T,p.P73L,SNP,SNVindel,exonic,CFC1,NA,nonsynonymous SNV,"CFC1:NM_001270420:exon3:c.C218T:p.P73L,CFC1:NM_001270421:exon3:c.C218T:p.P73L,CFC1:NM_032545:exon3:c.C218T:p.P73L",T,N,N,D,N,T
chr2,179441770,179441770,T,C,P398678_F,TTN,Missense_Mutation,NM_003319,exon152,c.A42097G,p.R14033G,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon152:c.A42097G:p.R14033G,TTN:NM_133432:exon153:c.A42472G:p.R14158G,TTN:NM_133437:exon153:c.A42673G:p.R14225G,TTN:NM_133378:exon273:c.A61588G:p.R20530G,TTN:NM_001256850:exon274:c.A64369G:p.R21457G,TTN:NM_001267550:exon324:c.A69292G:p.R23098G",D,.,D,T,D,T
chr2,179467031,179467031,C,A,P398678_F,TTN,Missense_Mutation,NM_003319,exon111,c.G27903T,p.E9301D,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon111:c.G27903T:p.E9301D,TTN:NM_133432:exon112:c.G28278T:p.E9426D,TTN:NM_133437:exon112:c.G28479T:p.E9493D,TTN:NM_133378:exon232:c.G47394T:p.E15798D,TTN:NM_001256850:exon233:c.G50175T:p.E16725D,TTN:NM_001267550:exon283:c.G55098T:p.E18366D",T,.,D,T,N,T
chr2,234698552,234698552,C,T,P398678_F,MROH2A,Nonsense_Mutation,NM_001367507,exon5,c.C463T,p.R155X,SNP,SNVindel,exonic,MROH2A,NA,stopgain,MROH2A:NM_001367507:exon5:c.C463T:p.R155X,.,N,A,.,.,.
chr2,238283551,238283551,G,A,P398678_F,COL6A3,Silent,NM_057166,exon5,c.C1362T,p.G454G,SNP,SNVindel,exonic,COL6A3,NA,synonymous SNV,"COL6A3:NM_057166:exon5:c.C1362T:p.G454G,COL6A3:NM_057164:exon6:c.C1962T:p.G654G,COL6A3:NM_057165:exon7:c.C2565T:p.G855G,COL6A3:NM_057167:exon7:c.C2565T:p.G855G,COL6A3:NM_004369:exon8:c.C3183T:p.G1061G",NA,NA,NA,NA,NA,NA
chr3,33138556,33138556,T,C,P398678_F,GLB1,Missense_Mutation,NM_000404,exon1,c.A22G,p.I8V,SNP,SNVindel,exonic,GLB1,NA,nonsynonymous SNV,"GLB1:NM_000404:exon1:c.A22G:p.I8V,GLB1:NM_001135602:exon1:c.A22G:p.I8V,GLB1:NM_001317040:exon1:c.A22G:p.I8V",T,N,N,D,N,D
chr3,38888474,38888474,C,A,P398678_F,SCN11A,Missense_Mutation,NM_014139,exon26,c.G5087T,p.G1696V,SNP,SNVindel,exonic,SCN11A,NA,nonsynonymous SNV,"SCN11A:NM_014139:exon26:c.G5087T:p.G1696V,SCN11A:NM_001349253:exon30:c.G5087T:p.G1696V",D,N,D,D,N,D
chr3,121825319,121825319,G,A,P398678_F,CD86,Silent,NM_001206924,exon3,c.G339A,p.T113T,SNP,SNVindel,exonic,CD86,NA,synonymous SNV,"CD86:NM_001206924:exon3:c.G339A:p.T113T,CD86:NM_001206925:exon3:c.G429A:p.T143T,CD86:NM_006889:exon4:c.G657A:p.T219T,CD86:NM_175862:exon4:c.G675A:p.T225T,CD86:NM_176892:exon4:c.G657A:p.T219T",NA,NA,NA,NA,NA,NA
chr4,5755632,5755632,C,T,P398678_F,EVC,Missense_Mutation,NM_001306090,exon10,c.C1436T,p.P479L,SNP,SNVindel,exonic,EVC,NA,nonsynonymous SNV,"EVC:NM_001306090:exon10:c.C1436T:p.P479L,EVC:NM_001306092:exon10:c.C1436T:p.P479L,EVC:NM_153717:exon10:c.C1436T:p.P479L",T,N,N,T,N,T
chr4,170506650,170506650,A,G,P398678_F,NEK1,Silent,NM_001199400,exon9,c.T657C,p.S219S,SNP,SNVindel,exonic,NEK1,NA,synonymous SNV,"NEK1:NM_001199400:exon9:c.T657C:p.S219S,NEK1:NM_012224:exon9:c.T657C:p.S219S,NEK1:NM_001199397:exon10:c.T657C:p.S219S,NEK1:NM_001199398:exon10:c.T657C:p.S219S,NEK1:NM_001199399:exon10:c.T657C:p.S219S",NA,NA,NA,NA,NA,NA
chr5,16463299,16463299,C,T,P398678_F,ZNF622,Missense_Mutation,NM_033414,exon3,c.G967A,p.A323T,SNP,SNVindel,exonic,ZNF622,NA,nonsynonymous SNV,ZNF622:NM_033414:exon3:c.G967A:p.A323T,T,D,D,T,N,T
chr5,68470864,68470864,T,G,P398678_F,CCNB1,Missense_Mutation,NM_001354845,exon5,c.T707G,p.I236S,SNP,SNVindel,exonic,CCNB1,NA,nonsynonymous SNV,"CCNB1:NM_001354845:exon5:c.T707G:p.I236S,CCNB1:NM_001354844:exon6:c.T866G:p.I289S,CCNB1:NM_031966:exon6:c.T866G:p.I289S",D,D,D,T,D,D
chr6,7583342,7583342,C,T,P398678_F,DSP,Silent,NM_001008844,exon24,c.C4050T,p.S1350S,SNP,SNVindel,exonic,DSP,NA,synonymous SNV,"DSP:NM_001008844:exon24:c.C4050T:p.S1350S,DSP:NM_001319034:exon24:c.C4518T:p.S1506S,DSP:NM_004415:exon24:c.C5847T:p.S1949S",NA,NA,NA,NA,NA,NA
chr6,46977961,46977961,A,C,P398678_F,ADGRF1,Missense_Mutation,NM_153840,exon11,c.T1210G,p.L404V,SNP,SNVindel,exonic,ADGRF1,NA,nonsynonymous SNV,ADGRF1:NM_153840:exon11:c.T1210G:p.L404V,D,N,N,T,D,T
chr6,169637404,169637404,C,T,P398678_F,THBS2,Nonsense_Mutation,NM_003247,exon10,c.G1338A,p.W446X,SNP,SNVindel,exonic,THBS2,NA,stopgain,THBS2:NM_003247:exon10:c.G1338A:p.W446X,.,U,A,.,.,.
chr7,35284619,35284619,T,C,P398678_F,TBX20,Missense_Mutation,NM_001077653,exon4,c.A596G,p.Q199R,SNP,SNVindel,exonic,TBX20,NA,nonsynonymous SNV,"TBX20:NM_001077653:exon4:c.A596G:p.Q199R,TBX20:NM_001166220:exon4:c.A596G:p.Q199R",D,D,D,D,D,D
chr7,57194309,57194309,C,G,P398678_F,ZNF479,Silent,NM_001370129,exon2,c.G156C,p.L52L,SNP,SNVindel,exonic,ZNF479,NA,synonymous SNV,"ZNF479:NM_001370129:exon2:c.G156C:p.L52L,ZNF479:NM_033273:exon3:c.G156C:p.L52L",NA,NA,NA,NA,NA,NA
chr7,70597986,70597986,C,T,P398678_F,GALNT17,Silent,NM_022479,exon1,c.C198T,p.R66R,SNP,SNVindel,exonic,GALNT17,NA,synonymous SNV,GALNT17:NM_022479:exon1:c.C198T:p.R66R,NA,NA,NA,NA,NA,NA
chr7,141750594,141750594,A,G,P398678_F,MGAM,Missense_Mutation,NM_001365693,exon24,c.A2735G,p.N912S,SNP,SNVindel,exonic,MGAM,NA,nonsynonymous SNV,"MGAM:NM_001365693:exon24:c.A2735G:p.N912S,MGAM:NM_004668:exon24:c.A2735G:p.N912S",T,N,N,D,D,T
chr8,11188806,11188806,G,C,P398678_F,SLC35G5,Missense_Mutation,NM_054028,exon1,c.G191C,p.G64A,SNP,SNVindel,exonic,SLC35G5,NA,nonsynonymous SNV,SLC35G5:NM_054028:exon1:c.G191C:p.G64A,T,N,N,T,N,T
chr8,55542331,55542331,C,G,P398678_F,RP1,Missense_Mutation,NM_006269,exon4,c.C5889G,p.D1963E,SNP,SNVindel,exonic,RP1,NA,nonsynonymous SNV,RP1:NM_006269:exon4:c.C5889G:p.D1963E,T,N,N,T,N,T
chr8,87423980,87423980,C,G,P398678_F,WWP1,Missense_Mutation,NM_007013,exon9,c.C938G,p.P313R,SNP,SNVindel,exonic,WWP1,NA,nonsynonymous SNV,WWP1:NM_007013:exon9:c.C938G:p.P313R,D,N,N,T,D,T
chr8,144332299,144332299,T,C,P398678_F,ZFP41,Missense_Mutation,NM_001271156,exon2,c.T286C,p.F96L,SNP,SNVindel,exonic,ZFP41,NA,nonsynonymous SNV,"ZFP41:NM_001271156:exon2:c.T286C:p.F96L,ZFP41:NM_173832:exon2:c.T286C:p.F96L",.,.,N,.,.,T
chr9,39085808,39085808,T,C,P398678_F,CNTNAP3,Missense_Mutation,NM_033655,exon21,c.A3367G,p.T1123A,SNP,SNVindel,exonic,CNTNAP3,NA,nonsynonymous SNV,CNTNAP3:NM_033655:exon21:c.A3367G:p.T1123A,T,.,P,T,N,T
chr9,134459971,134459971,T,C,P398678_F,RAPGEF1,Missense_Mutation,NM_001304275,exon20,c.A2739G,p.I913M,SNP,SNVindel,exonic,RAPGEF1,NA,nonsynonymous SNV,"RAPGEF1:NM_001304275:exon20:c.A2739G:p.I913M,RAPGEF1:NM_005312:exon20:c.A2688G:p.I896M,RAPGEF1:NM_198679:exon20:c.A2742G:p.I914M",T,D,D,T,N,T
chr9,139906133,139906133,C,T,P398678_F,ABCA2,Silent,NM_001606,exon36,c.G5604A,p.T1868T,SNP,SNVindel,exonic,ABCA2,NA,synonymous SNV,"ABCA2:NM_001606:exon36:c.G5604A:p.T1868T,ABCA2:NM_212533:exon36:c.G5694A:p.T1898T",NA,NA,NA,NA,NA,NA
chr10,91099194,91099194,T,C,P398678_F,IFIT3,Missense_Mutation,NM_001031683,exon2,c.T782C,p.I261T,SNP,SNVindel,exonic,IFIT3,NA,nonsynonymous SNV,"IFIT3:NM_001031683:exon2:c.T782C:p.I261T,IFIT3:NM_001549:exon2:c.T782C:p.I261T,IFIT3:NM_001289758:exon3:c.T626C:p.I209T,IFIT3:NM_001289759:exon3:c.T626C:p.I209T",D,D,D,T,D,T
chr11,130131537,130131537,T,C,P398678_F,ZBTB44,Missense_Mutation,NM_001301098,exon2,c.A232G,p.T78A,SNP,SNVindel,exonic,ZBTB44,NA,nonsynonymous SNV,"ZBTB44:NM_001301098:exon2:c.A232G:p.T78A,ZBTB44:NM_001301099:exon2:c.A232G:p.T78A,ZBTB44:NM_001370219:exon2:c.A232G:p.T78A,ZBTB44:NM_001370220:exon2:c.A232G:p.T78A,ZBTB44:NM_001370221:exon2:c.A232G:p.T78A,ZBTB44:NM_001370223:exon2:c.A232G:p.T78A,ZBTB44:NM_014155:exon2:c.A232G:p.T78A",D,D,D,T,D,T
chr12,8074227,8074227,G,A,P398678_F,SLC2A3,Missense_Mutation,NM_006931,exon10,c.C1273T,p.H425Y,SNP,SNVindel,exonic,SLC2A3,NA,nonsynonymous SNV,SLC2A3:NM_006931:exon10:c.C1273T:p.H425Y,T,N,N,T,N,T
chr12,65564435,65564435,C,G,P398678_F,LEMD3,Silent,NM_001167614,exon1,c.C1059G,p.P353P,SNP,SNVindel,exonic,LEMD3,NA,synonymous SNV,"LEMD3:NM_001167614:exon1:c.C1059G:p.P353P,LEMD3:NM_014319:exon1:c.C1059G:p.P353P",NA,NA,NA,NA,NA,NA
chr12,107168554,107168554,C,T,P398678_F,RIC8B,Missense_Mutation,NM_001330145,exon1,c.C31T,p.R11W,SNP,SNVindel,exonic,RIC8B,NA,nonsynonymous SNV,"RIC8B:NM_001330145:exon1:c.C31T:p.R11W,RIC8B:NM_001330146:exon1:c.C31T:p.R11W,RIC8B:NM_001330147:exon1:c.C31T:p.R11W,RIC8B:NM_001351363:exon1:c.C31T:p.R11W,RIC8B:NM_018157:exon1:c.C31T:p.R11W",D,N,D,.,N,T
chr14,42356811,42356811,T,A,P398678_F,LRFN5,Missense_Mutation,NM_001346173,exon2,c.T983A,p.I328N,SNP,SNVindel,exonic,LRFN5,NA,nonsynonymous SNV,"LRFN5:NM_001346173:exon2:c.T983A:p.I328N,LRFN5:NM_001346175:exon2:c.T983A:p.I328N,LRFN5:NM_001330106:exon3:c.T983A:p.I328N,LRFN5:NM_152447:exon3:c.T983A:p.I328N",D,D,D,T,D,T
chr15,22382580,22382580,T,A,P398678_F,LOC105369274,Silent,NM_001005241,exon1,c.T108A,p.L36L,SNP,SNVindel,exonic,LOC105369274;OR4N4,NA,synonymous SNV,"OR4N4:NM_001005241:exon1:c.T108A:p.L36L,LOC105369274:NM_001365389:exon2:c.T159A:p.L53L",NA,NA,NA,NA,NA,NA
chr16,1536132,1536132,G,T,P398678_F,PTX4,Missense_Mutation,NM_001013658,exon3,c.C1230A,p.D410E,SNP,SNVindel,exonic,PTX4,NA,nonsynonymous SNV,"PTX4:NM_001013658:exon3:c.C1230A:p.D410E,PTX4:NM_001328608:exon3:c.C1245A:p.D415E",T,N,D,T,D,T
chr16,21063182,21063182,G,A,P398678_F,DNAH3,Silent,NM_001347886,exon29,c.C3909T,p.D1303D,SNP,SNVindel,exonic,DNAH3,NA,synonymous SNV,"DNAH3:NM_001347886:exon29:c.C3909T:p.D1303D,DNAH3:NM_017539:exon29:c.C4047T:p.D1349D",NA,NA,NA,NA,NA,NA
chr17,6493188,6493188,G,T,P398678_F,KIAA0753,Silent,NM_001351225,exon18,c.C1800A,p.I600I,SNP,SNVindel,exonic,KIAA0753,NA,synonymous SNV,"KIAA0753:NM_001351225:exon18:c.C1800A:p.I600I,KIAA0753:NM_014804:exon18:c.C2697A:p.I899I",NA,NA,NA,NA,NA,NA
chr17,7577097,7577097,C,T,P398678_F,TP53,Missense_Mutation,NM_001126115,exon4,c.G445A,p.D149N,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon4:c.G445A:p.D149N,TP53:NM_001126116:exon4:c.G445A:p.D149N,TP53:NM_001126117:exon4:c.G445A:p.D149N,TP53:NM_001276697:exon4:c.G364A:p.D122N,TP53:NM_001276698:exon4:c.G364A:p.D122N,TP53:NM_001276699:exon4:c.G364A:p.D122N,TP53:NM_001126118:exon7:c.G724A:p.D242N,TP53:NM_000546:exon8:c.G841A:p.D281N,TP53:NM_001126112:exon8:c.G841A:p.D281N,TP53:NM_001126113:exon8:c.G841A:p.D281N,TP53:NM_001126114:exon8:c.G841A:p.D281N,TP53:NM_001276695:exon8:c.G724A:p.D242N,TP53:NM_001276696:exon8:c.G724A:p.D242N,TP53:NM_001276760:exon8:c.G724A:p.D242N,TP53:NM_001276761:exon8:c.G724A:p.D242N",D,D,D,D,D,D
chr17,7578457,7578457,C,T,P398678_F,TP53,Missense_Mutation,NM_001126115,exon1,c.G77A,p.R26H,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon1:c.G77A:p.R26H,TP53:NM_001126116:exon1:c.G77A:p.R26H,TP53:NM_001126117:exon1:c.G77A:p.R26H,TP53:NM_001126118:exon4:c.G356A:p.R119H,TP53:NM_000546:exon5:c.G473A:p.R158H,TP53:NM_001126112:exon5:c.G473A:p.R158H,TP53:NM_001126113:exon5:c.G473A:p.R158H,TP53:NM_001126114:exon5:c.G473A:p.R158H,TP53:NM_001276695:exon5:c.G356A:p.R119H,TP53:NM_001276696:exon5:c.G356A:p.R119H,TP53:NM_001276760:exon5:c.G356A:p.R119H,TP53:NM_001276761:exon5:c.G356A:p.R119H",D,D,D,D,D,D
chr17,7909734,7909734,C,T,P398678_F,GUCY2D,Silent,NM_000180,exon4,c.C1080T,p.G360G,SNP,SNVindel,exonic,GUCY2D,NA,synonymous SNV,GUCY2D:NM_000180:exon4:c.C1080T:p.G360G,NA,NA,NA,NA,NA,NA
chr17,42455801,42455801,C,T,P398678_F,ITGA2B,Missense_Mutation,NM_000419,exon20,c.G2023A,p.A675T,SNP,SNVindel,exonic,ITGA2B,NA,nonsynonymous SNV,ITGA2B:NM_000419:exon20:c.G2023A:p.A675T,D,N,D,T,D,D
chr18,11610366,11610366,G,A,P398678_F,SLC35G4,Missense_Mutation,NM_001282300,exon1,c.G772A,p.A258T,SNP,SNVindel,exonic,SLC35G4,NA,nonsynonymous SNV,SLC35G4:NM_001282300:exon1:c.G772A:p.A258T,NA,NA,NA,NA,NA,NA
chr19,4501211,4501211,G,T,P398678_F,HDGFL2,Missense_Mutation,NM_001001520,exon16,c.G1798T,p.A600S,SNP,SNVindel,exonic,HDGFL2,NA,nonsynonymous SNV,"HDGFL2:NM_001001520:exon16:c.G1798T:p.A600S,HDGFL2:NM_001348169:exon16:c.G1870T:p.A624S,HDGFL2:NM_032631:exon16:c.G1798T:p.A600S",.,N,N,.,.,T
chr19,9069196,9069196,C,T,P398678_F,MUC16,Missense_Mutation,NM_024690,exon3,c.G18250A,p.A6084T,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon3:c.G18250A:p.A6084T,D,.,N,T,N,T
chr19,14066950,14066950,C,T,P398678_F,DCAF15,Silent,NM_138353,exon5,c.C489T,p.N163N,SNP,SNVindel,exonic,DCAF15,NA,synonymous SNV,DCAF15:NM_138353:exon5:c.C489T:p.N163N,NA,NA,NA,NA,NA,NA
chr19,15580586,15580586,G,A,P398678_F,PGLYRP2,Missense_Mutation,NM_001363546,exon4,c.C1498T,p.R500C,SNP,SNVindel,exonic,PGLYRP2,NA,nonsynonymous SNV,"PGLYRP2:NM_001363546:exon4:c.C1498T:p.R500C,PGLYRP2:NM_052890:exon4:c.C1498T:p.R500C",D,D,D,T,D,T
chr19,42854398,42854398,C,T,P398678_F,MEGF8,Silent,NM_001410,exon14,c.C2397T,p.C799C,SNP,SNVindel,exonic,MEGF8,NA,synonymous SNV,"MEGF8:NM_001410:exon14:c.C2397T:p.C799C,MEGF8:NM_001271938:exon15:c.C2598T:p.C866C",NA,NA,NA,NA,NA,NA
chr20,2775076,2775076,C,T,P398678_F,CPXM1,Silent,NM_001184699,exon14,c.G1743A,p.A581A,SNP,SNVindel,exonic,CPXM1,NA,synonymous SNV,"CPXM1:NM_001184699:exon14:c.G1743A:p.A581A,CPXM1:NM_019609:exon14:c.G1965A:p.A655A",NA,NA,NA,NA,NA,NA
chr20,49366267,49366267,C,T,P398678_F,PARD6B,Missense_Mutation,NM_032521,exon3,c.C361T,p.R121C,SNP,SNVindel,exonic,PARD6B,NA,nonsynonymous SNV,PARD6B:NM_032521:exon3:c.C361T:p.R121C,D,N,D,T,D,T
chr20,56189948,56189948,C,T,P398678_F,ZBP1,Missense_Mutation,NM_001160418,exon3,c.G272A,p.R91H,SNP,SNVindel,exonic,ZBP1,NA,nonsynonymous SNV,"ZBP1:NM_001160418:exon3:c.G272A:p.R91H,ZBP1:NM_001323966:exon3:c.G272A:p.R91H,ZBP1:NM_001160417:exon4:c.G497A:p.R166H,ZBP1:NM_001160419:exon4:c.G497A:p.R166H,ZBP1:NM_030776:exon4:c.G497A:p.R166H",T,N,N,T,N,T
chr21,46117477,46117477,A,G,P398678_F,KRTAP10-12,Missense_Mutation,NM_198699,exon1,c.A361G,p.M121V,SNP,SNVindel,exonic,KRTAP10-12,NA,nonsynonymous SNV,KRTAP10-12:NM_198699:exon1:c.A361G:p.M121V,T,.,N,T,N,T
chr21,46117480,46117480,C,T,P398678_F,KRTAP10-12,Missense_Mutation,NM_198699,exon1,c.C364T,p.P122S,SNP,SNVindel,exonic,KRTAP10-12,NA,nonsynonymous SNV,KRTAP10-12:NM_198699:exon1:c.C364T:p.P122S,T,.,D,T,D,T
chr1,12939476,12939476,G,C,P398678_S,PRAMEF4,Missense_Mutation,NM_001009611,exon4,c.C1326G,p.N442K,SNP,SNVindel,exonic,PRAMEF4,NA,nonsynonymous SNV,PRAMEF4:NM_001009611:exon4:c.C1326G:p.N442K,T,N,N,T,N,T
chr1,13475133,13475133,C,T,P398678_S,PRAMEF19,Silent,NM_001099790,exon3,c.G996A,p.L332L,SNP,SNVindel,exonic,PRAMEF19,NA,synonymous SNV,PRAMEF19:NM_001099790:exon3:c.G996A:p.L332L,NA,NA,NA,NA,NA,NA
chr1,16902931,16902931,C,G,P398678_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,17272044,17272044,A,G,P398678_S,CROCC,Silent,NM_014675,exon15,c.A2079G,p.T693T,SNP,SNVindel,exonic,CROCC,NA,synonymous SNV,CROCC:NM_014675:exon15:c.A2079G:p.T693T,NA,NA,NA,NA,NA,NA
chr1,42660664,42660664,T,G,P398678_S,FOXJ3,Missense_Mutation,NM_001198852,exon7,c.A729C,p.E243D,SNP,SNVindel,exonic,FOXJ3,NA,nonsynonymous SNV,"FOXJ3:NM_001198852:exon7:c.A729C:p.E243D,FOXJ3:NM_001198850:exon8:c.A831C:p.E277D,FOXJ3:NM_014947:exon8:c.A831C:p.E277D,FOXJ3:NM_001198851:exon10:c.A831C:p.E277D",T,N,D,T,N,T
chr1,65864559,65864559,A,T,P398678_S,DNAJC6,Missense_Mutation,NM_001256864,exon14,c.A2102T,p.K701I,SNP,SNVindel,exonic,DNAJC6,NA,nonsynonymous SNV,"DNAJC6:NM_001256864:exon14:c.A2102T:p.K701I,DNAJC6:NM_014787:exon14:c.A1931T:p.K644I,DNAJC6:NM_001256865:exon15:c.A1892T:p.K631I",T,N,D,D,N,T
chr1,92174260,92174260,A,G,P398678_S,TGFBR3,Silent,NM_001195683,exon14,c.T2244C,p.T748T,SNP,SNVindel,exonic,TGFBR3,NA,synonymous SNV,"TGFBR3:NM_001195683:exon14:c.T2244C:p.T748T,TGFBR3:NM_003243:exon14:c.T2247C:p.T749T,TGFBR3:NM_001195684:exon15:c.T2244C:p.T748T",NA,NA,NA,NA,NA,NA
chr1,162729696,162729696,A,G,P398678_S,DDR2,Missense_Mutation,NM_001354982,exon8,c.A782G,p.N261S,SNP,SNVindel,exonic,DDR2,NA,nonsynonymous SNV,"DDR2:NM_001354982:exon8:c.A782G:p.N261S,DDR2:NM_001354983:exon8:c.A782G:p.N261S,DDR2:NM_006182:exon8:c.A782G:p.N261S,DDR2:NM_001014796:exon9:c.A782G:p.N261S",D,D,D,T,D,T
chr1,226426760,226426760,C,T,P398678_S,LIN9,Missense_Mutation,NM_001366240,exon10,c.G878A,p.R293Q,SNP,SNVindel,exonic,LIN9,NA,nonsynonymous SNV,"LIN9:NM_001366240:exon10:c.G878A:p.R293Q,LIN9:NM_001270409:exon11:c.G1100A:p.R367Q,LIN9:NM_001366237:exon11:c.G1124A:p.R375Q,LIN9:NM_001366239:exon11:c.G1103A:p.R368Q,LIN9:NM_001270410:exon12:c.G1001A:p.R334Q,LIN9:NM_001366238:exon12:c.G1202A:p.R401Q,LIN9:NM_001366241:exon12:c.G1001A:p.R334Q,LIN9:NM_001366245:exon12:c.G1157A:p.R386Q,LIN9:NM_173083:exon12:c.G1205A:p.R402Q",D,D,D,.,N,T
chr2,70033584,70033584,C,T,P398678_S,ANXA4,Missense_Mutation,NM_001153,exon5,c.C260T,p.T87M,SNP,SNVindel,exonic,ANXA4,NA,nonsynonymous SNV,"ANXA4:NM_001153:exon5:c.C260T:p.T87M,ANXA4:NM_001320702:exon5:c.C8T:p.T3M,ANXA4:NM_001365496:exon6:c.C260T:p.T87M,ANXA4:NM_001320698:exon7:c.C260T:p.T87M",T,N,P,T,N,T
chr2,73868584,73868584,C,T,P398678_S,NAT8,Missense_Mutation,NM_003960,exon2,c.G172A,p.G58R,SNP,SNVindel,exonic,NAT8,NA,nonsynonymous SNV,NAT8:NM_003960:exon2:c.G172A:p.G58R,D,D,D,T,D,T
chr2,98887183,98887183,A,G,P398678_S,VWA3B,Missense_Mutation,NM_001345864,exon16,c.A1853G,p.K618R,SNP,SNVindel,exonic,VWA3B,NA,nonsynonymous SNV,"VWA3B:NM_001345864:exon16:c.A1853G:p.K618R,VWA3B:NM_144992:exon22:c.A2882G:p.K961R",T,D,N,T,N,T
chr2,130832873,130832873,G,A,P398678_S,POTEF,Silent,NM_001099771,exon17,c.C2172T,p.D724D,SNP,SNVindel,exonic,POTEF,NA,synonymous SNV,POTEF:NM_001099771:exon17:c.C2172T:p.D724D,NA,NA,NA,NA,NA,NA
chr2,179441770,179441770,T,C,P398678_S,TTN,Missense_Mutation,NM_003319,exon152,c.A42097G,p.R14033G,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon152:c.A42097G:p.R14033G,TTN:NM_133432:exon153:c.A42472G:p.R14158G,TTN:NM_133437:exon153:c.A42673G:p.R14225G,TTN:NM_133378:exon273:c.A61588G:p.R20530G,TTN:NM_001256850:exon274:c.A64369G:p.R21457G,TTN:NM_001267550:exon324:c.A69292G:p.R23098G",D,.,D,T,D,T
chr2,212251864,212251864,T,C,P398678_S,ERBB4,Silent,NM_001042599,exon26,c.A3147G,p.V1049V,SNP,SNVindel,exonic,ERBB4,NA,synonymous SNV,"ERBB4:NM_001042599:exon26:c.A3147G:p.V1049V,ERBB4:NM_005235:exon27:c.A3195G:p.V1065V",NA,NA,NA,NA,NA,NA
chr2,234698552,234698552,C,T,P398678_S,MROH2A,Nonsense_Mutation,NM_001367507,exon5,c.C463T,p.R155X,SNP,SNVindel,exonic,MROH2A,NA,stopgain,MROH2A:NM_001367507:exon5:c.C463T:p.R155X,.,N,A,.,.,.
chr3,141164114,141164114,G,A,P398678_S,ZBTB38,Missense_Mutation,NM_001350100,exon4,c.G2884A,p.V962M,SNP,SNVindel,exonic,ZBTB38,NA,nonsynonymous SNV,"ZBTB38:NM_001350100:exon4:c.G2884A:p.V962M,ZBTB38:NM_001350099:exon6:c.G2884A:p.V962M,ZBTB38:NM_001080412:exon8:c.G2884A:p.V962M",T,N,N,T,N,T
chr3,186435370,186435370,G,A,P398678_S,KNG1,Silent,NM_000893,exon1,c.G39A,p.L13L,SNP,SNVindel,exonic,KNG1,NA,synonymous SNV,"KNG1:NM_000893:exon1:c.G39A:p.L13L,KNG1:NM_001102416:exon1:c.G39A:p.L13L,KNG1:NM_001166451:exon1:c.G39A:p.L13L",NA,NA,NA,NA,NA,NA
chr4,5755632,5755632,C,T,P398678_S,EVC,Missense_Mutation,NM_001306090,exon10,c.C1436T,p.P479L,SNP,SNVindel,exonic,EVC,NA,nonsynonymous SNV,"EVC:NM_001306090:exon10:c.C1436T:p.P479L,EVC:NM_001306092:exon10:c.C1436T:p.P479L,EVC:NM_153717:exon10:c.C1436T:p.P479L",T,N,N,T,N,T
chr4,16587561,16587561,G,A,P398678_S,LDB2,Missense_Mutation,NM_001130834,exon5,c.C599T,p.T200I,SNP,SNVindel,exonic,LDB2,NA,nonsynonymous SNV,"LDB2:NM_001130834:exon5:c.C599T:p.T200I,LDB2:NM_001290:exon5:c.C599T:p.T200I,LDB2:NM_001304434:exon5:c.C599T:p.T200I,LDB2:NM_001304435:exon5:c.C599T:p.T200I",D,D,D,.,D,T
chr4,144922436,144922436,T,G,P398678_S,GYPB,Missense_Mutation,NM_002100,exon2,c.A38C,p.E13A,SNP,SNVindel,exonic,GYPB,NA,nonsynonymous SNV,GYPB:NM_002100:exon2:c.A38C:p.E13A,T,.,N,T,N,T
chr4,170506650,170506650,A,G,P398678_S,NEK1,Silent,NM_001199400,exon9,c.T657C,p.S219S,SNP,SNVindel,exonic,NEK1,NA,synonymous SNV,"NEK1:NM_001199400:exon9:c.T657C:p.S219S,NEK1:NM_012224:exon9:c.T657C:p.S219S,NEK1:NM_001199397:exon10:c.T657C:p.S219S,NEK1:NM_001199398:exon10:c.T657C:p.S219S,NEK1:NM_001199399:exon10:c.T657C:p.S219S",NA,NA,NA,NA,NA,NA
chr5,143507,143507,G,A,P398678_S,PLEKHG4B,Missense_Mutation,NM_052909,exon5,c.G1700A,p.R567H,SNP,SNVindel,exonic,PLEKHG4B,NA,nonsynonymous SNV,PLEKHG4B:NM_052909:exon5:c.G1700A:p.R567H,T,.,N,T,N,T
chr5,37239958,37239958,G,T,P398678_S,CPLANE1,Missense_Mutation,NM_023073,exon7,c.C691A,p.H231N,SNP,SNVindel,exonic,CPLANE1,NA,nonsynonymous SNV,CPLANE1:NM_023073:exon7:c.C691A:p.H231N,T,U,D,T,N,T
chr5,134782576,134782576,T,G,P398678_S,DCANP1,Missense_Mutation,NM_130848,exon1,c.A223C,p.T75P,SNP,SNVindel,exonic,DCANP1,NA,nonsynonymous SNV,DCANP1:NM_130848:exon1:c.A223C:p.T75P,.,.,P,T,N,T
chr5,180432416,180432416,C,T,P398678_S,BTNL3,Silent,NM_197975,exon8,c.C945T,p.P315P,SNP,SNVindel,exonic,BTNL3,NA,synonymous SNV,BTNL3:NM_197975:exon8:c.C945T:p.P315P,NA,NA,NA,NA,NA,NA
chr6,46977961,46977961,A,C,P398678_S,ADGRF1,Missense_Mutation,NM_153840,exon11,c.T1210G,p.L404V,SNP,SNVindel,exonic,ADGRF1,NA,nonsynonymous SNV,ADGRF1:NM_153840:exon11:c.T1210G:p.L404V,D,N,N,T,D,T
chr6,50803851,50803851,G,A,P398678_S,TFAP2B,Missense_Mutation,NM_003221,exon4,c.G679A,p.G227S,SNP,SNVindel,exonic,TFAP2B,NA,nonsynonymous SNV,TFAP2B:NM_003221:exon4:c.G679A:p.G227S,T,D,D,D,N,T
chr6,169637404,169637404,C,T,P398678_S,THBS2,Nonsense_Mutation,NM_003247,exon10,c.G1338A,p.W446X,SNP,SNVindel,exonic,THBS2,NA,stopgain,THBS2:NM_003247:exon10:c.G1338A:p.W446X,.,U,A,.,.,.
chr7,33044951,33044951,C,G,P398678_S,FKBP9,Missense_Mutation,NM_001284343,exon7,c.C1005G,p.H335Q,SNP,SNVindel,exonic,FKBP9,NA,nonsynonymous SNV,"FKBP9:NM_001284343:exon7:c.C1005G:p.H335Q,FKBP9:NM_007270:exon10:c.C1701G:p.H567Q,FKBP9:NM_001284341:exon11:c.C1860G:p.H620Q",D,.,D,T,D,T
chr7,35284619,35284619,T,C,P398678_S,TBX20,Missense_Mutation,NM_001077653,exon4,c.A596G,p.Q199R,SNP,SNVindel,exonic,TBX20,NA,nonsynonymous SNV,"TBX20:NM_001077653:exon4:c.A596G:p.Q199R,TBX20:NM_001166220:exon4:c.A596G:p.Q199R",D,D,D,D,D,D
chr7,98628293,98628293,C,T,P398678_S,SMURF1,Missense_Mutation,NM_001199847,exon18,c.G2101A,p.D701N,SNP,SNVindel,exonic,SMURF1,NA,nonsynonymous SNV,"SMURF1:NM_001199847:exon18:c.G2101A:p.D701N,SMURF1:NM_181349:exon18:c.G2110A:p.D704N,SMURF1:NM_020429:exon19:c.G2188A:p.D730N",D,D,D,T,D,D
chr7,100175317,100175317,G,A,P398678_S,LRCH4,Silent,NM_001289934,exon9,c.C1086T,p.P362P,SNP,SNVindel,exonic,LRCH4,NA,synonymous SNV,"LRCH4:NM_001289934:exon9:c.C1086T:p.P362P,LRCH4:NM_002319:exon9:c.C1086T:p.P362P",NA,NA,NA,NA,NA,NA
chr8,17739538,17739538,T,C,P398678_S,FGL1,Missense_Mutation,NM_004467,exon3,c.A214G,p.I72V,SNP,SNVindel,exonic,FGL1,NA,nonsynonymous SNV,"FGL1:NM_004467:exon3:c.A214G:p.I72V,FGL1:NM_147203:exon3:c.A214G:p.I72V,FGL1:NM_201552:exon4:c.A214G:p.I72V,FGL1:NM_201553:exon4:c.A214G:p.I72V",T,N,P,T,N,T
chr8,64099767,64099767,G,A,P398678_S,YTHDF3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,YTHDF3,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr8,77617248,77617248,G,A,P398678_S,ZFHX4,Missense_Mutation,NM_024721,exon2,c.G925A,p.E309K,SNP,SNVindel,exonic,ZFHX4,NA,nonsynonymous SNV,ZFHX4:NM_024721:exon2:c.G925A:p.E309K,D,U,D,T,D,D
chr8,86351997,86351997,G,A,P398678_S,CA3,Missense_Mutation,NM_005181,exon2,c.G91A,p.V31I,SNP,SNVindel,exonic,CA3,NA,nonsynonymous SNV,CA3:NM_005181:exon2:c.G91A:p.V31I,T,N,P,T,N,T
chr8,144332299,144332299,T,C,P398678_S,ZFP41,Missense_Mutation,NM_001271156,exon2,c.T286C,p.F96L,SNP,SNVindel,exonic,ZFP41,NA,nonsynonymous SNV,"ZFP41:NM_001271156:exon2:c.T286C:p.F96L,ZFP41:NM_173832:exon2:c.T286C:p.F96L",.,.,N,.,.,T
chr9,34397545,34397545,A,G,P398678_S,C9orf24,Silent,NM_032596,exon1,c.T87C,p.Y29Y,SNP,SNVindel,exonic,C9orf24,NA,synonymous SNV,C9orf24:NM_032596:exon1:c.T87C:p.Y29Y,NA,NA,NA,NA,NA,NA
chr9,38595886,38595886,T,C,P398678_S,ANKRD18A,Missense_Mutation,NM_147195,exon9,c.A1451G,p.N484S,SNP,SNVindel,exonic,ANKRD18A,NA,nonsynonymous SNV,"ANKRD18A:NM_147195:exon9:c.A1451G:p.N484S,ANKRD18A:NM_001331100:exon11:c.A1637G:p.N546S",T,.,P,T,D,T
chr9,112899430,112899430,C,T,P398678_S,PALM2-AKAP2,Missense_Mutation,NM_001004065,exon2,c.C1180T,p.R394C,SNP,SNVindel,exonic,PALM2-AKAP2,NA,nonsynonymous SNV,"PALM2-AKAP2:NM_001004065:exon2:c.C1180T:p.R394C,PALM2-AKAP2:NM_001136562:exon2:c.C913T:p.R305C,PALM2-AKAP2:NM_001198656:exon2:c.C1180T:p.R394C,PALM2-AKAP2:NM_007203:exon8:c.C1606T:p.R536C,PALM2-AKAP2:NM_147150:exon8:c.C1606T:p.R536C",T,N,N,T,N,T
chr9,139839904,139839904,T,G,P398678_S,C8G,Silent,NM_000606,exon1,c.T132G,p.A44A,SNP,SNVindel,exonic,C8G,NA,synonymous SNV,C8G:NM_000606:exon1:c.T132G:p.A44A,NA,NA,NA,NA,NA,NA
chr10,91099194,91099194,T,C,P398678_S,IFIT3,Missense_Mutation,NM_001031683,exon2,c.T782C,p.I261T,SNP,SNVindel,exonic,IFIT3,NA,nonsynonymous SNV,"IFIT3:NM_001031683:exon2:c.T782C:p.I261T,IFIT3:NM_001549:exon2:c.T782C:p.I261T,IFIT3:NM_001289758:exon3:c.T626C:p.I209T,IFIT3:NM_001289759:exon3:c.T626C:p.I209T",D,D,D,T,D,T
chr11,1215580,1215580,A,G,P398678_S,MUC5AC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC5AC,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,66333598,66333598,C,T,P398678_S,CTSF,Silent,NM_003793,exon6,c.G762A,p.R254R,SNP,SNVindel,exonic,CTSF,NA,synonymous SNV,CTSF:NM_003793:exon6:c.G762A:p.R254R,NA,NA,NA,NA,NA,NA
chr11,71146577,71146577,G,A,P398678_S,DHCR7,Silent,NM_001163817,exon9,c.C1272T,p.G424G,SNP,SNVindel,exonic,DHCR7,NA,synonymous SNV,"DHCR7:NM_001163817:exon9:c.C1272T:p.G424G,DHCR7:NM_001360:exon9:c.C1272T:p.G424G",NA,NA,NA,NA,NA,NA
chr11,71847122,71847122,C,T,P398678_S,FOLR3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,FOLR3,NA,unknown,UNKNOWN,D,U,D,T,D,T
chr11,76372418,76372418,T,C,P398678_S,LRRC32,Silent,NM_001128922,exon3,c.A219G,p.T73T,SNP,SNVindel,exonic,LRRC32,NA,synonymous SNV,"LRRC32:NM_001128922:exon3:c.A219G:p.T73T,LRRC32:NM_001370187:exon3:c.A219G:p.T73T,LRRC32:NM_001370188:exon3:c.A219G:p.T73T,LRRC32:NM_001370189:exon3:c.A153G:p.T51T,LRRC32:NM_005512:exon3:c.A219G:p.T73T",NA,NA,NA,NA,NA,NA
chr11,82996986,82996986,A,C,P398678_S,CCDC90B,Missense_Mutation,NM_021825,exon1,c.T30G,p.F10L,SNP,SNVindel,exonic,CCDC90B,NA,nonsynonymous SNV,CCDC90B:NM_021825:exon1:c.T30G:p.F10L,T,N,P,T,N,T
chr11,124180282,124180282,A,C,P398678_S,OR8D1,Missense_Mutation,NM_001002917,exon1,c.T381G,p.C127W,SNP,SNVindel,exonic,OR8D1,NA,nonsynonymous SNV,OR8D1:NM_001002917:exon1:c.T381G:p.C127W,D,U,P,T,D,T
chr12,8074227,8074227,G,A,P398678_S,SLC2A3,Missense_Mutation,NM_006931,exon10,c.C1273T,p.H425Y,SNP,SNVindel,exonic,SLC2A3,NA,nonsynonymous SNV,SLC2A3:NM_006931:exon10:c.C1273T:p.H425Y,T,N,N,T,N,T
chr12,8211476,8211476,C,T,P398678_S,C3AR1,Missense_Mutation,NM_001326475,exon2,c.G1306A,p.A436T,SNP,SNVindel,exonic,C3AR1,NA,nonsynonymous SNV,"C3AR1:NM_001326475:exon2:c.G1306A:p.A436T,C3AR1:NM_001326477:exon2:c.G1306A:p.A436T,C3AR1:NM_004054:exon2:c.G1306A:p.A436T",D,D,D,T,N,T
chr12,13715960,13715960,G,T,P398678_S,GRIN2B,Nonsense_Mutation,NM_000834,exon13,c.C4212A,p.Y1404X,SNP,SNVindel,exonic,GRIN2B,NA,stopgain,GRIN2B:NM_000834:exon13:c.C4212A:p.Y1404X,.,D,D,.,.,.
chr12,29639241,29639241,C,A,P398678_S,OVCH1,Missense_Mutation,NM_001353179,exon8,c.G933T,p.R311S,SNP,SNVindel,exonic,OVCH1,NA,nonsynonymous SNV,OVCH1:NM_001353179:exon8:c.G933T:p.R311S,T,.,N,D,N,T
chr12,32134207,32134207,C,A,P398678_S,RESF1,Missense_Mutation,NM_018169,exon4,c.C318A,p.H106Q,SNP,SNVindel,exonic,RESF1,NA,nonsynonymous SNV,RESF1:NM_018169:exon4:c.C318A:p.H106Q,T,N,P,T,D,T
chr12,129190380,129190380,A,C,P398678_S,TMEM132C,Missense_Mutation,NM_001136103,exon9,c.A2867C,p.Q956P,SNP,SNVindel,exonic,TMEM132C,NA,nonsynonymous SNV,TMEM132C:NM_001136103:exon9:c.A2867C:p.Q956P,D,N,D,T,D,T
chr13,31495157,31495157,C,A,P398678_S,MEDAG,Missense_Mutation,NM_032849,exon3,c.C395A,p.T132K,SNP,SNVindel,exonic,MEDAG,NA,nonsynonymous SNV,MEDAG:NM_032849:exon3:c.C395A:p.T132K,T,N,D,T,D,T
chr14,105410183,105410183,T,C,P398678_S,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.A11305G,p.M3769V,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.A11305G:p.M3769V,AHNAK2:NM_138420:exon7:c.A11605G:p.M3869V",T,.,P,T,N,T
chr14,105416087,105416087,C,T,P398678_S,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.G5401A,p.G1801S,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.G5401A:p.G1801S,AHNAK2:NM_138420:exon7:c.G5701A:p.G1901S",T,.,P,T,N,T
chr15,59386984,59386984,G,A,P398678_S,RNF111,Missense_Mutation,NM_001270528,exon14,c.G2873A,p.R958H,SNP,SNVindel,exonic,RNF111,NA,nonsynonymous SNV,"RNF111:NM_001270528:exon14:c.G2873A:p.R958H,RNF111:NM_001270529:exon14:c.G2843A:p.R948H,RNF111:NM_001270530:exon14:c.G2870A:p.R957H,RNF111:NM_001330331:exon14:c.G2897A:p.R966H,RNF111:NM_017610:exon14:c.G2846A:p.R949H",D,D,D,T,D,T
chr16,21063182,21063182,G,A,P398678_S,DNAH3,Silent,NM_001347886,exon29,c.C3909T,p.D1303D,SNP,SNVindel,exonic,DNAH3,NA,synonymous SNV,"DNAH3:NM_001347886:exon29:c.C3909T:p.D1303D,DNAH3:NM_017539:exon29:c.C4047T:p.D1349D",NA,NA,NA,NA,NA,NA
chr17,7577097,7577097,C,T,P398678_S,TP53,Missense_Mutation,NM_001126115,exon4,c.G445A,p.D149N,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon4:c.G445A:p.D149N,TP53:NM_001126116:exon4:c.G445A:p.D149N,TP53:NM_001126117:exon4:c.G445A:p.D149N,TP53:NM_001276697:exon4:c.G364A:p.D122N,TP53:NM_001276698:exon4:c.G364A:p.D122N,TP53:NM_001276699:exon4:c.G364A:p.D122N,TP53:NM_001126118:exon7:c.G724A:p.D242N,TP53:NM_000546:exon8:c.G841A:p.D281N,TP53:NM_001126112:exon8:c.G841A:p.D281N,TP53:NM_001126113:exon8:c.G841A:p.D281N,TP53:NM_001126114:exon8:c.G841A:p.D281N,TP53:NM_001276695:exon8:c.G724A:p.D242N,TP53:NM_001276696:exon8:c.G724A:p.D242N,TP53:NM_001276760:exon8:c.G724A:p.D242N,TP53:NM_001276761:exon8:c.G724A:p.D242N",D,D,D,D,D,D
chr17,7909734,7909734,C,T,P398678_S,GUCY2D,Silent,NM_000180,exon4,c.C1080T,p.G360G,SNP,SNVindel,exonic,GUCY2D,NA,synonymous SNV,GUCY2D:NM_000180:exon4:c.C1080T:p.G360G,NA,NA,NA,NA,NA,NA
chr17,48151353,48151353,T,C,P398678_S,ITGA3,Silent,NM_002204,exon8,c.T1230C,p.L410L,SNP,SNVindel,exonic,ITGA3,NA,synonymous SNV,ITGA3:NM_002204:exon8:c.T1230C:p.L410L,NA,NA,NA,NA,NA,NA
chr17,53478879,53478879,A,C,P398678_S,MMD,Missense_Mutation,NM_012329,exon6,c.T467G,p.F156C,SNP,SNVindel,exonic,MMD,NA,nonsynonymous SNV,MMD:NM_012329:exon6:c.T467G:p.F156C,T,N,D,T,N,T
chr17,71197439,71197439,C,T,P398678_S,COG1,Silent,NM_018714,exon7,c.C1473T,p.S491S,SNP,SNVindel,exonic,COG1,NA,synonymous SNV,COG1:NM_018714:exon7:c.C1473T:p.S491S,NA,NA,NA,NA,NA,NA
chr19,4501211,4501211,G,T,P398678_S,HDGFL2,Missense_Mutation,NM_001001520,exon16,c.G1798T,p.A600S,SNP,SNVindel,exonic,HDGFL2,NA,nonsynonymous SNV,"HDGFL2:NM_001001520:exon16:c.G1798T:p.A600S,HDGFL2:NM_001348169:exon16:c.G1870T:p.A624S,HDGFL2:NM_032631:exon16:c.G1798T:p.A600S",.,N,N,.,.,T
chr19,5455788,5455788,G,A,P398678_S,ZNRF4,Missense_Mutation,NM_181710,exon1,c.G286A,p.A96T,SNP,SNVindel,exonic,ZNRF4,NA,nonsynonymous SNV,ZNRF4:NM_181710:exon1:c.G286A:p.A96T,T,U,N,T,N,T
chr19,8326904,8326904,G,A,P398678_S,CERS4,Missense_Mutation,NM_024552,exon12,c.G1096A,p.A366T,SNP,SNVindel,exonic,CERS4,NA,nonsynonymous SNV,CERS4:NM_024552:exon12:c.G1096A:p.A366T,T,N,P,T,N,T
chr19,9069196,9069196,C,T,P398678_S,MUC16,Missense_Mutation,NM_024690,exon3,c.G18250A,p.A6084T,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon3:c.G18250A:p.A6084T,D,.,N,T,N,T
chr19,9084299,9084299,T,C,P398678_S,MUC16,Missense_Mutation,NM_024690,exon1,c.A7516G,p.T2506A,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.A7516G:p.T2506A,T,.,P,T,N,T
chr19,10222410,10222410,G,A,P398678_S,P2RY11,Missense_Mutation,NM_002566,exon1,c.G13A,p.V5I,SNP,SNVindel,exonic,P2RY11,NA,nonsynonymous SNV,P2RY11:NM_002566:exon1:c.G13A:p.V5I,T,.,N,T,N,T
chr19,43585334,43585334,T,G,P398678_S,PSG2,Silent,NM_031246,exon2,c.A129C,p.P43P,SNP,SNVindel,exonic,PSG2,NA,synonymous SNV,PSG2:NM_031246:exon2:c.A129C:p.P43P,NA,NA,NA,NA,NA,NA
chr20,422613,422613,G,T,P398678_S,TBC1D20,Missense_Mutation,NM_144628,exon4,c.C412A,p.P138T,SNP,SNVindel,exonic,TBC1D20,NA,nonsynonymous SNV,TBC1D20:NM_144628:exon4:c.C412A:p.P138T,D,D,D,T,D,T
chr20,49366267,49366267,C,T,P398678_S,PARD6B,Missense_Mutation,NM_032521,exon3,c.C361T,p.R121C,SNP,SNVindel,exonic,PARD6B,NA,nonsynonymous SNV,PARD6B:NM_032521:exon3:c.C361T:p.R121C,D,N,D,T,D,T
chr20,56189948,56189948,C,T,P398678_S,ZBP1,Missense_Mutation,NM_001160418,exon3,c.G272A,p.R91H,SNP,SNVindel,exonic,ZBP1,NA,nonsynonymous SNV,"ZBP1:NM_001160418:exon3:c.G272A:p.R91H,ZBP1:NM_001323966:exon3:c.G272A:p.R91H,ZBP1:NM_001160417:exon4:c.G497A:p.R166H,ZBP1:NM_001160419:exon4:c.G497A:p.R166H,ZBP1:NM_030776:exon4:c.G497A:p.R166H",T,N,N,T,N,T
chr20,61458124,61458124,C,T,P398678_S,COL9A3,Silent,NM_001853,exon15,c.C744T,p.P248P,SNP,SNVindel,exonic,COL9A3,NA,synonymous SNV,COL9A3:NM_001853:exon15:c.C744T:p.P248P,NA,NA,NA,NA,NA,NA
chr21,46117477,46117477,A,G,P398678_S,KRTAP10-12,Missense_Mutation,NM_198699,exon1,c.A361G,p.M121V,SNP,SNVindel,exonic,KRTAP10-12,NA,nonsynonymous SNV,KRTAP10-12:NM_198699:exon1:c.A361G:p.M121V,T,.,N,T,N,T
chrX,51075841,51075841,A,G,P398678_S,NUDT10,Silent,NM_001304963,exon1,c.A24G,p.T8T,SNP,SNVindel,exonic,NUDT10,NA,synonymous SNV,"NUDT10:NM_001304963:exon1:c.A24G:p.T8T,NUDT10:NM_153183:exon2:c.A24G:p.T8T",NA,NA,NA,NA,NA,NA
chrX,102864442,102864442,A,G,P398678_S,TCEAL3,Silent,NM_001006933,exon3,c.A450G,p.Q150Q,SNP,SNVindel,exonic,TCEAL3,NA,synonymous SNV,"TCEAL3:NM_001006933:exon3:c.A450G:p.Q150Q,TCEAL3:NM_032926:exon3:c.A450G:p.Q150Q",NA,NA,NA,NA,NA,NA
chr1,16903814,16903814,G,A,P404679_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,17597429,17597429,G,A,P404679_F,PADI3,Nonsense_Mutation,NM_016233,exon8,c.G887A,p.W296X,SNP,SNVindel,exonic,PADI3,NA,stopgain,PADI3:NM_016233:exon8:c.G887A:p.W296X,.,D,A,.,.,.
chr1,17597430,17597430,G,A,P404679_F,PADI3,Nonsense_Mutation,NM_016233,exon8,c.G888A,p.W296X,SNP,SNVindel,exonic,PADI3,NA,stopgain,PADI3:NM_016233:exon8:c.G888A:p.W296X,.,D,A,.,.,.
chr1,22141250,22141250,C,T,P404679_F,LDLRAD2,Missense_Mutation,NM_001013693,exon2,c.C445T,p.R149C,SNP,SNVindel,exonic,LDLRAD2,NA,nonsynonymous SNV,LDLRAD2:NM_001013693:exon2:c.C445T:p.R149C,D,N,D,T,D,T
chr1,149881364,149881364,G,A,P404679_F,SV2A,Nonsense_Mutation,NM_001328674,exon6,c.C1168T,p.R390X,SNP,SNVindel,exonic,SV2A,NA,stopgain,"SV2A:NM_001328674:exon6:c.C1168T:p.R390X,SV2A:NM_001328675:exon6:c.C1168T:p.R390X,SV2A:NM_014849:exon6:c.C1168T:p.R390X",.,D,A,.,.,.
chr1,161495809,161495809,A,G,P404679_F,HSPA6,Missense_Mutation,NM_002155,exon1,c.A1361G,p.D454G,SNP,SNVindel,exonic,HSPA6,NA,nonsynonymous SNV,HSPA6:NM_002155:exon1:c.A1361G:p.D454G,D,U,D,T,D,T
chr2,56420319,56420319,C,T,P404679_F,CCDC85A,Silent,NM_001080433,exon2,c.C984T,p.H328H,SNP,SNVindel,exonic,CCDC85A,NA,synonymous SNV,"CCDC85A:NM_001080433:exon2:c.C984T:p.H328H,CCDC85A:NM_001348512:exon2:c.C984T:p.H328H,CCDC85A:NM_001348513:exon2:c.C984T:p.H328H,CCDC85A:NM_001348514:exon2:c.C984T:p.H328H,CCDC85A:NM_001348515:exon2:c.C984T:p.H328H,CCDC85A:NM_001348516:exon2:c.C984T:p.H328H",NA,NA,NA,NA,NA,NA
chr2,71891540,71891540,C,T,P404679_F,DYSF,Missense_Mutation,NM_001130976,exon44,c.C4987T,p.R1663C,SNP,SNVindel,exonic,DYSF,NA,nonsynonymous SNV,"DYSF:NM_001130976:exon44:c.C4987T:p.R1663C,DYSF:NM_001130986:exon44:c.C4990T:p.R1664C,DYSF:NM_001130455:exon45:c.C5032T:p.R1678C,DYSF:NM_001130977:exon45:c.C5050T:p.R1684C,DYSF:NM_001130980:exon45:c.C5080T:p.R1694C,DYSF:NM_001130984:exon45:c.C5053T:p.R1685C,DYSF:NM_001130985:exon45:c.C5083T:p.R1695C,DYSF:NM_003494:exon45:c.C5029T:p.R1677C,DYSF:NM_001130978:exon46:c.C5092T:p.R1698C,DYSF:NM_001130979:exon46:c.C5122T:p.R1708C,DYSF:NM_001130981:exon46:c.C5143T:p.R1715C,DYSF:NM_001130982:exon46:c.C5125T:p.R1709C,DYSF:NM_001130983:exon46:c.C5095T:p.R1699C,DYSF:NM_001130987:exon46:c.C5146T:p.R1716C",T,D,D,D,D,D
chr2,113251924,113251924,G,C,P404679_F,TTL,Missense_Mutation,NM_153712,exon3,c.G441C,p.W147C,SNP,SNVindel,exonic,TTL,NA,nonsynonymous SNV,TTL:NM_153712:exon3:c.G441C:p.W147C,D,D,D,T,D,T
chr2,125232393,125232393,C,A,P404679_F,CNTNAP5,Missense_Mutation,NM_001367498,exon7,c.C996A,p.N332K,SNP,SNVindel,exonic,CNTNAP5,NA,nonsynonymous SNV,"CNTNAP5:NM_001367498:exon7:c.C996A:p.N332K,CNTNAP5:NM_130773:exon7:c.C996A:p.N332K",D,D,D,T,D,D
chr2,225244610,225244610,G,A,P404679_F,FAM124B,Missense_Mutation,NM_001122779,exon2,c.C1048T,p.R350W,SNP,SNVindel,exonic,FAM124B,NA,nonsynonymous SNV,FAM124B:NM_001122779:exon2:c.C1048T:p.R350W,T,.,N,T,N,T
chr3,44935098,44935098,G,A,P404679_F,TGM4,Missense_Mutation,NM_003241,exon5,c.G460A,p.E154K,SNP,SNVindel,exonic,TGM4,NA,nonsynonymous SNV,TGM4:NM_003241:exon5:c.G460A:p.E154K,D,U,N,D,D,T
chr3,48685789,48685789,C,A,P404679_F,CELSR3,Missense_Mutation,NM_001407,exon19,c.G6883T,p.V2295L,SNP,SNVindel,exonic,CELSR3,NA,nonsynonymous SNV,CELSR3:NM_001407:exon19:c.G6883T:p.V2295L,T,.,N,T,N,T
chr3,50225539,50225539,G,A,P404679_F,SEMA3F,Silent,NM_001318798,exon18,c.G2052A,p.P684P,SNP,SNVindel,exonic,SEMA3F,NA,synonymous SNV,"SEMA3F:NM_001318798:exon18:c.G2052A:p.P684P,SEMA3F:NM_001318800:exon18:c.G2256A:p.P752P,SEMA3F:NM_004186:exon19:c.G2349A:p.P783P",NA,NA,NA,NA,NA,NA
chr3,178952018,178952018,A,G,P404679_F,PIK3CA,Missense_Mutation,NM_006218,exon21,c.A3073G,p.T1025A,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon21:c.A3073G:p.T1025A,T,D,D,T,D,T
chr3,195453193,195453193,C,A,P404679_F,MUC20,Silent,NM_001282506,exon2,c.C1719A,p.S573S,SNP,SNVindel,exonic,MUC20,NA,synonymous SNV,"MUC20:NM_001282506:exon2:c.C1719A:p.S573S,MUC20:NM_001291833:exon4:c.C1206A:p.S402S,MUC20:NM_020790:exon4:c.C1263A:p.S421S,MUC20:NM_152673:exon4:c.C1206A:p.S402S",NA,NA,NA,NA,NA,NA
chr5,37170158,37170158,A,G,P404679_F,CPLANE1,Silent,NM_023073,exon33,c.T6447C,p.S2149S,SNP,SNVindel,exonic,CPLANE1,NA,synonymous SNV,CPLANE1:NM_023073:exon33:c.T6447C:p.S2149S,NA,NA,NA,NA,NA,NA
chr6,39507947,39507947,G,A,P404679_F,KIF6,Missense_Mutation,NM_001289020,exon13,c.C1477T,p.L493F,SNP,SNVindel,exonic,KIF6,NA,nonsynonymous SNV,"KIF6:NM_001289020:exon13:c.C1477T:p.L493F,KIF6:NM_145027:exon13:c.C1477T:p.L493F",T,.,N,T,N,T
chr7,2317787,2317787,G,A,P404679_F,SNX8,Missense_Mutation,NM_013321,exon2,c.C248T,p.P83L,SNP,SNVindel,exonic,SNX8,NA,nonsynonymous SNV,SNX8:NM_013321:exon2:c.C248T:p.P83L,D,D,D,T,D,T
chr7,99914759,99914759,A,G,P404679_F,SPDYE3,Missense_Mutation,NM_001004351,exon8,c.A1327G,p.I443V,SNP,SNVindel,exonic,SPDYE3,NA,nonsynonymous SNV,SPDYE3:NM_001004351:exon8:c.A1327G:p.I443V,D,N,N,.,N,T
chr7,100283013,100283013,G,A,P404679_F,GIGYF1,Silent,NM_022574,exon10,c.C1146T,p.N382N,SNP,SNVindel,exonic,GIGYF1,NA,synonymous SNV,GIGYF1:NM_022574:exon10:c.C1146T:p.N382N,NA,NA,NA,NA,NA,NA
chr7,142919344,142919344,G,A,P404679_F,TAS2R40,Missense_Mutation,NM_176882,exon1,c.G173A,p.R58H,SNP,SNVindel,exonic,TAS2R40,NA,nonsynonymous SNV,TAS2R40:NM_176882:exon1:c.G173A:p.R58H,T,N,N,T,N,T
chr8,100654428,100654428,G,T,P404679_F,VPS13B,Silent,NM_017890,exon34,c.G5685T,p.V1895V,SNP,SNVindel,exonic,VPS13B,NA,synonymous SNV,"VPS13B:NM_017890:exon34:c.G5685T:p.V1895V,VPS13B:NM_152564:exon34:c.G5610T:p.V1870V",NA,NA,NA,NA,NA,NA
chr9,33385156,33385156,C,T,P404679_F,AQP7,Missense_Mutation,NM_001318156,exon7,c.G646A,p.V216I,SNP,SNVindel,exonic,AQP7,NA,nonsynonymous SNV,AQP7:NM_001318156:exon7:c.G646A:p.V216I,T,.,N,D,N,T
chr9,39085808,39085808,T,C,P404679_F,CNTNAP3,Missense_Mutation,NM_033655,exon21,c.A3367G,p.T1123A,SNP,SNVindel,exonic,CNTNAP3,NA,nonsynonymous SNV,CNTNAP3:NM_033655:exon21:c.A3367G:p.T1123A,T,.,P,T,N,T
chr9,43628651,43628651,A,C,P404679_F,SPATA31A6,Silent,NM_001145196,exon3,c.T291G,p.L97L,SNP,SNVindel,exonic,SPATA31A6,NA,synonymous SNV,SPATA31A6:NM_001145196:exon3:c.T291G:p.L97L,NA,NA,NA,NA,NA,NA
chr10,50340327,50340327,G,A,P404679_F,FAM170B,Silent,NM_001164484,exon2,c.C183T,p.F61F,SNP,SNVindel,exonic,FAM170B,NA,synonymous SNV,FAM170B:NM_001164484:exon2:c.C183T:p.F61F,NA,NA,NA,NA,NA,NA
chr11,428120,428120,C,T,P404679_F,ANO9,Silent,NM_001347882,exon14,c.G870A,p.S290S,SNP,SNVindel,exonic,ANO9,NA,synonymous SNV,"ANO9:NM_001347882:exon14:c.G870A:p.S290S,ANO9:NM_001012302:exon15:c.G1302A:p.S434S",NA,NA,NA,NA,NA,NA
chr11,59189790,59189790,G,A,P404679_F,OR5A2,Silent,NM_001001954,exon1,c.C637T,p.L213L,SNP,SNVindel,exonic,OR5A2,NA,synonymous SNV,OR5A2:NM_001001954:exon1:c.C637T:p.L213L,NA,NA,NA,NA,NA,NA
chr11,124489205,124489205,C,T,P404679_F,PANX3,Nonsense_Mutation,NM_052959,exon4,c.C553T,p.R185X,SNP,SNVindel,exonic,PANX3,NA,stopgain,PANX3:NM_052959:exon4:c.C553T:p.R185X,.,D,D,.,.,.
chr13,111109540,111109540,C,G,P404679_F,COL4A2-AS2,Missense_Mutation,NM_001267044,exon5,c.G532C,p.G178R,SNP,SNVindel,exonic,COL4A2-AS2,NA,nonsynonymous SNV,COL4A2-AS2:NM_001267044:exon5:c.G532C:p.G178R,NA,NA,NA,NA,NA,NA
chr14,101005316,101005316,G,A,P404679_F,BEGAIN,Missense_Mutation,NM_001159531,exon6,c.C772T,p.R258W,SNP,SNVindel,exonic,BEGAIN,NA,nonsynonymous SNV,"BEGAIN:NM_001159531:exon6:c.C772T:p.R258W,BEGAIN:NM_020836:exon7:c.C772T:p.R258W",D,N,D,.,D,T
chr15,24921736,24921736,G,A,P404679_F,NPAP1,Missense_Mutation,NM_018958,exon1,c.G722A,p.S241N,SNP,SNVindel,exonic,NPAP1,NA,nonsynonymous SNV,NPAP1:NM_018958:exon1:c.G722A:p.S241N,D,N,N,T,D,T
chr16,3556366,3556366,A,C,P404679_F,CLUAP1,Missense_Mutation,NM_001330454,exon3,c.A170C,p.D57A,SNP,SNVindel,exonic,CLUAP1,NA,nonsynonymous SNV,"CLUAP1:NM_001330454:exon3:c.A170C:p.D57A,CLUAP1:NM_015041:exon3:c.A170C:p.D57A",D,D,D,T,D,T
chr16,14738226,14738226,A,G,P404679_F,BFAR,Missense_Mutation,NM_001330500,exon2,c.A23G,p.Y8C,SNP,SNVindel,exonic,BFAR,NA,nonsynonymous SNV,"BFAR:NM_001330500:exon2:c.A23G:p.Y8C,BFAR:NM_016561:exon2:c.A23G:p.Y8C",T,N,N,T,N,T
chr16,67154074,67154074,G,A,P404679_F,C16orf70,Missense_Mutation,NM_025187,exon2,c.G124A,p.V42I,SNP,SNVindel,exonic,C16orf70,NA,nonsynonymous SNV,"C16orf70:NM_025187:exon2:c.G124A:p.V42I,C16orf70:NM_001320540:exon3:c.G124A:p.V42I,C16orf70:NM_001320541:exon3:c.G124A:p.V42I,C16orf70:NM_001320542:exon3:c.G124A:p.V42I,C16orf70:NM_001320543:exon3:c.G124A:p.V42I",T,D,D,.,N,T
chr16,75675608,75675608,G,A,P404679_F,KARS,Missense_Mutation,NM_005548,exon2,c.C76T,p.R26C,SNP,SNVindel,exonic,KARS,NA,nonsynonymous SNV,"KARS:NM_005548:exon2:c.C76T:p.R26C,KARS:NM_001130089:exon3:c.C160T:p.R54C",D,D,D,T,D,D
chr16,87925468,87925468,C,T,P404679_F,CA5A,Silent,NM_001367225,exon6,c.G711A,p.P237P,SNP,SNVindel,exonic,CA5A,NA,synonymous SNV,"CA5A:NM_001367225:exon6:c.G711A:p.P237P,CA5A:NM_001739:exon6:c.G711A:p.P237P",NA,NA,NA,NA,NA,NA
chr17,7578413,7578413,C,T,P404679_F,TP53,Missense_Mutation,NM_001126115,exon1,c.G121A,p.V41M,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon1:c.G121A:p.V41M,TP53:NM_001126116:exon1:c.G121A:p.V41M,TP53:NM_001126117:exon1:c.G121A:p.V41M,TP53:NM_001276697:exon1:c.G40A:p.V14M,TP53:NM_001276698:exon1:c.G40A:p.V14M,TP53:NM_001276699:exon1:c.G40A:p.V14M,TP53:NM_001126118:exon4:c.G400A:p.V134M,TP53:NM_000546:exon5:c.G517A:p.V173M,TP53:NM_001126112:exon5:c.G517A:p.V173M,TP53:NM_001126113:exon5:c.G517A:p.V173M,TP53:NM_001126114:exon5:c.G517A:p.V173M,TP53:NM_001276695:exon5:c.G400A:p.V134M,TP53:NM_001276696:exon5:c.G400A:p.V134M,TP53:NM_001276760:exon5:c.G400A:p.V134M,TP53:NM_001276761:exon5:c.G400A:p.V134M",D,D,D,D,D,D
chr18,674389,674389,T,A,P404679_F,ENOSF1,Silent,NM_001354068,exon13,c.A1161T,p.T387T,SNP,SNVindel,exonic,ENOSF1,NA,synonymous SNV,"ENOSF1:NM_001354068:exon13:c.A1161T:p.T387T,ENOSF1:NM_001318760:exon14:c.A705T:p.T235T,ENOSF1:NM_001354065:exon15:c.A1002T:p.T334T,ENOSF1:NM_001354066:exon15:c.A1206T:p.T402T,ENOSF1:NM_202758:exon15:c.A1350T:p.T450T,ENOSF1:NM_001354067:exon16:c.A1392T:p.T464T,ENOSF1:NM_017512:exon16:c.A1248T:p.T416T",NA,NA,NA,NA,NA,NA
chr18,43528529,43528529,T,C,P404679_F,EPG5,Missense_Mutation,NM_020964,exon6,c.A1511G,p.H504R,SNP,SNVindel,exonic,EPG5,NA,nonsynonymous SNV,EPG5:NM_020964:exon6:c.A1511G:p.H504R,T,N,N,T,N,T
chr18,67993382,67993382,G,A,P404679_F,SOCS6,Missense_Mutation,NM_004232,exon2,c.G1478A,p.R493Q,SNP,SNVindel,exonic,SOCS6,NA,nonsynonymous SNV,SOCS6:NM_004232:exon2:c.G1478A:p.R493Q,D,D,D,T,D,T
chr19,11512790,11512790,G,A,P404679_F,RGL3,Missense_Mutation,NM_001035223,exon13,c.C1381T,p.R461C,SNP,SNVindel,exonic,RGL3,NA,nonsynonymous SNV,"RGL3:NM_001035223:exon13:c.C1381T:p.R461C,RGL3:NM_001161616:exon13:c.C1381T:p.R461C",D,N,D,T,D,T
chr19,13445285,13445285,G,A,P404679_F,CACNA1A,Missense_Mutation,NM_001127221,exon8,c.C1105T,p.R369W,SNP,SNVindel,exonic,CACNA1A,NA,nonsynonymous SNV,"CACNA1A:NM_001127221:exon8:c.C1105T:p.R369W,CACNA1A:NM_001127222:exon8:c.C1105T:p.R369W",D,D,D,D,D,D
chr19,35804312,35804312,G,A,P404679_F,MAG,Silent,NM_001199216,exon11,c.G1761A,p.T587T,SNP,SNVindel,exonic,MAG,NA,synonymous SNV,"MAG:NM_001199216:exon11:c.G1761A:p.T587T,MAG:NM_002361:exon11:c.G1836A:p.T612T",NA,NA,NA,NA,NA,NA
chr19,51274851,51274851,A,C,P404679_F,GPR32,Missense_Mutation,NM_001506,exon1,c.A994C,p.T332P,SNP,SNVindel,exonic,GPR32,NA,nonsynonymous SNV,GPR32:NM_001506:exon1:c.A994C:p.T332P,T,.,N,T,N,T
chr19,55873674,55873674,G,A,P404679_F,FAM71E2,Missense_Mutation,NM_001145402,exon3,c.C503T,p.T168M,SNP,SNVindel,exonic,FAM71E2,NA,nonsynonymous SNV,FAM71E2:NM_001145402:exon3:c.C503T:p.T168M,T,N,N,T,N,T
chr20,19646529,19646529,T,G,P404679_F,SLC24A3,Missense_Mutation,NM_020689,exon8,c.T709G,p.S237A,SNP,SNVindel,exonic,SLC24A3,NA,nonsynonymous SNV,SLC24A3:NM_020689:exon8:c.T709G:p.S237A,T,N,D,T,N,T
chr21,45547925,45547925,C,T,P404679_F,LOC102724159,Silent,NM_001368238,exon18,c.C2253T,p.R751R,SNP,SNVindel,exonic,LOC102724159;PWP2,NA,synonymous SNV,"LOC102724159:NM_001368238:exon18:c.C2253T:p.R751R,PWP2:NM_005049:exon18:c.C2253T:p.R751R",NA,NA,NA,NA,NA,NA
chr22,32297779,32297779,T,A,P404679_F,DEPDC5,Missense_Mutation,NM_001242897,exon38,c.T4127A,p.I1376N,SNP,SNVindel,exonic,DEPDC5,NA,nonsynonymous SNV,"DEPDC5:NM_001242897:exon38:c.T4127A:p.I1376N,DEPDC5:NM_001363854:exon39:c.T4193A:p.I1398N,DEPDC5:NM_001364319:exon39:c.T4193A:p.I1398N,DEPDC5:NM_001363852:exon40:c.T4361A:p.I1454N,DEPDC5:NM_001364320:exon40:c.T4361A:p.I1454N,DEPDC5:NM_001369901:exon40:c.T4343A:p.I1448N,DEPDC5:NM_001369902:exon40:c.T4343A:p.I1448N,DEPDC5:NM_001369903:exon40:c.T4334A:p.I1445N,DEPDC5:NM_014662:exon40:c.T4334A:p.I1445N,DEPDC5:NM_001136029:exon41:c.T4400A:p.I1467N,DEPDC5:NM_001242896:exon41:c.T4427A:p.I1476N,DEPDC5:NM_001364318:exon41:c.T4427A:p.I1476N",D,D,D,T,D,T
chrX,49355893,49355893,C,G,P404679_F,GAGE2A,Missense_Mutation,NM_001127212,exon3,c.C175G,p.Q59E,SNP,SNVindel,exonic,GAGE2A,NA,nonsynonymous SNV,GAGE2A:NM_001127212:exon3:c.C175G:p.Q59E,T,.,P,T,N,T
chr1,17597429,17597429,G,A,P404679_S,PADI3,Nonsense_Mutation,NM_016233,exon8,c.G887A,p.W296X,SNP,SNVindel,exonic,PADI3,NA,stopgain,PADI3:NM_016233:exon8:c.G887A:p.W296X,.,D,A,.,.,.
chr1,17597430,17597430,G,A,P404679_S,PADI3,Nonsense_Mutation,NM_016233,exon8,c.G888A,p.W296X,SNP,SNVindel,exonic,PADI3,NA,stopgain,PADI3:NM_016233:exon8:c.G888A:p.W296X,.,D,A,.,.,.
chr1,22141250,22141250,C,T,P404679_S,LDLRAD2,Missense_Mutation,NM_001013693,exon2,c.C445T,p.R149C,SNP,SNVindel,exonic,LDLRAD2,NA,nonsynonymous SNV,LDLRAD2:NM_001013693:exon2:c.C445T:p.R149C,D,N,D,T,D,T
chr1,149881364,149881364,G,A,P404679_S,SV2A,Nonsense_Mutation,NM_001328674,exon6,c.C1168T,p.R390X,SNP,SNVindel,exonic,SV2A,NA,stopgain,"SV2A:NM_001328674:exon6:c.C1168T:p.R390X,SV2A:NM_001328675:exon6:c.C1168T:p.R390X,SV2A:NM_014849:exon6:c.C1168T:p.R390X",.,D,A,.,.,.
chr2,56420319,56420319,C,T,P404679_S,CCDC85A,Silent,NM_001080433,exon2,c.C984T,p.H328H,SNP,SNVindel,exonic,CCDC85A,NA,synonymous SNV,"CCDC85A:NM_001080433:exon2:c.C984T:p.H328H,CCDC85A:NM_001348512:exon2:c.C984T:p.H328H,CCDC85A:NM_001348513:exon2:c.C984T:p.H328H,CCDC85A:NM_001348514:exon2:c.C984T:p.H328H,CCDC85A:NM_001348515:exon2:c.C984T:p.H328H,CCDC85A:NM_001348516:exon2:c.C984T:p.H328H",NA,NA,NA,NA,NA,NA
chr2,71891540,71891540,C,T,P404679_S,DYSF,Missense_Mutation,NM_001130976,exon44,c.C4987T,p.R1663C,SNP,SNVindel,exonic,DYSF,NA,nonsynonymous SNV,"DYSF:NM_001130976:exon44:c.C4987T:p.R1663C,DYSF:NM_001130986:exon44:c.C4990T:p.R1664C,DYSF:NM_001130455:exon45:c.C5032T:p.R1678C,DYSF:NM_001130977:exon45:c.C5050T:p.R1684C,DYSF:NM_001130980:exon45:c.C5080T:p.R1694C,DYSF:NM_001130984:exon45:c.C5053T:p.R1685C,DYSF:NM_001130985:exon45:c.C5083T:p.R1695C,DYSF:NM_003494:exon45:c.C5029T:p.R1677C,DYSF:NM_001130978:exon46:c.C5092T:p.R1698C,DYSF:NM_001130979:exon46:c.C5122T:p.R1708C,DYSF:NM_001130981:exon46:c.C5143T:p.R1715C,DYSF:NM_001130982:exon46:c.C5125T:p.R1709C,DYSF:NM_001130983:exon46:c.C5095T:p.R1699C,DYSF:NM_001130987:exon46:c.C5146T:p.R1716C",T,D,D,D,D,D
chr2,125232393,125232393,C,A,P404679_S,CNTNAP5,Missense_Mutation,NM_001367498,exon7,c.C996A,p.N332K,SNP,SNVindel,exonic,CNTNAP5,NA,nonsynonymous SNV,"CNTNAP5:NM_001367498:exon7:c.C996A:p.N332K,CNTNAP5:NM_130773:exon7:c.C996A:p.N332K",D,D,D,T,D,D
chr2,179466051,179466051,C,T,P404679_S,TTN,Missense_Mutation,NM_003319,exon115,c.G28478A,p.R9493H,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon115:c.G28478A:p.R9493H,TTN:NM_133432:exon116:c.G28853A:p.R9618H,TTN:NM_133437:exon116:c.G29054A:p.R9685H,TTN:NM_133378:exon236:c.G47969A:p.R15990H,TTN:NM_001256850:exon237:c.G50750A:p.R16917H,TTN:NM_001267550:exon287:c.G55673A:p.R18558H",D,.,D,T,D,T
chr2,225244610,225244610,G,A,P404679_S,FAM124B,Missense_Mutation,NM_001122779,exon2,c.C1048T,p.R350W,SNP,SNVindel,exonic,FAM124B,NA,nonsynonymous SNV,FAM124B:NM_001122779:exon2:c.C1048T:p.R350W,T,.,N,T,N,T
chr3,38812783,38812783,C,T,P404679_S,SCN10A,Missense_Mutation,NM_001293306,exon4,c.G586A,p.V196I,SNP,SNVindel,exonic,SCN10A,NA,nonsynonymous SNV,"SCN10A:NM_001293306:exon4:c.G586A:p.V196I,SCN10A:NM_001293307:exon4:c.G586A:p.V196I,SCN10A:NM_006514:exon4:c.G586A:p.V196I",T,D,D,D,N,D
chr3,44935098,44935098,G,A,P404679_S,TGM4,Missense_Mutation,NM_003241,exon5,c.G460A,p.E154K,SNP,SNVindel,exonic,TGM4,NA,nonsynonymous SNV,TGM4:NM_003241:exon5:c.G460A:p.E154K,D,U,N,D,D,T
chr3,196846382,196846382,A,C,P404679_S,DLG1,Missense_Mutation,NM_001204387,exon8,c.T936G,p.D312E,SNP,SNVindel,exonic,DLG1,NA,nonsynonymous SNV,"DLG1:NM_001204387:exon8:c.T936G:p.D312E,DLG1:NM_001204388:exon8:c.T936G:p.D312E,DLG1:NM_001366221:exon9:c.T1035G:p.D345E,DLG1:NM_001366222:exon9:c.T1035G:p.D345E,DLG1:NM_001366203:exon11:c.T1131G:p.D377E,DLG1:NM_001366206:exon11:c.T1131G:p.D377E,DLG1:NM_001366216:exon11:c.T1131G:p.D377E,DLG1:NM_001366219:exon11:c.T1131G:p.D377E,DLG1:NM_001366220:exon11:c.T1131G:p.D377E,DLG1:NM_001204386:exon12:c.T1185G:p.D395E,DLG1:NM_001363865:exon12:c.T1185G:p.D395E,DLG1:NM_001366204:exon12:c.T1185G:p.D395E,DLG1:NM_001366205:exon12:c.T1185G:p.D395E,DLG1:NM_001366207:exon12:c.T1185G:p.D395E,DLG1:NM_001366208:exon12:c.T1185G:p.D395E,DLG1:NM_001366209:exon12:c.T1185G:p.D395E,DLG1:NM_001366210:exon12:c.T1185G:p.D395E,DLG1:NM_001366211:exon12:c.T1185G:p.D395E,DLG1:NM_001366212:exon12:c.T1185G:p.D395E,DLG1:NM_001366213:exon12:c.T1185G:p.D395E,DLG1:NM_001366215:exon12:c.T1185G:p.D395E,DLG1:NM_001366217:exon12:c.T1185G:p.D395E,DLG1:NM_001098424:exon13:c.T1284G:p.D428E,DLG1:NM_001290983:exon13:c.T1284G:p.D428E,DLG1:NM_001366214:exon13:c.T1284G:p.D428E,DLG1:NM_001366218:exon13:c.T1284G:p.D428E,DLG1:NM_004087:exon13:c.T1284G:p.D428E",T,D,D,T,N,T
chr4,126242446,126242446,C,T,P404679_S,FAT4,Missense_Mutation,NM_001291285,exon1,c.C4880T,p.P1627L,SNP,SNVindel,exonic,FAT4,NA,nonsynonymous SNV,"FAT4:NM_001291285:exon1:c.C4880T:p.P1627L,FAT4:NM_001291303:exon1:c.C4880T:p.P1627L,FAT4:NM_024582:exon1:c.C4880T:p.P1627L",D,U,D,D,D,D
chr5,37170158,37170158,A,G,P404679_S,CPLANE1,Silent,NM_023073,exon33,c.T6447C,p.S2149S,SNP,SNVindel,exonic,CPLANE1,NA,synonymous SNV,CPLANE1:NM_023073:exon33:c.T6447C:p.S2149S,NA,NA,NA,NA,NA,NA
chr5,140215645,140215645,C,T,P404679_S,PCDHA7,Silent,NM_018910,exon1,c.C1677T,p.N559N,SNP,SNVindel,exonic,PCDHA7,NA,synonymous SNV,"PCDHA7:NM_018910:exon1:c.C1677T:p.N559N,PCDHA7:NM_031852:exon1:c.C1677T:p.N559N",NA,NA,NA,NA,NA,NA
chr6,39507947,39507947,G,A,P404679_S,KIF6,Missense_Mutation,NM_001289020,exon13,c.C1477T,p.L493F,SNP,SNVindel,exonic,KIF6,NA,nonsynonymous SNV,"KIF6:NM_001289020:exon13:c.C1477T:p.L493F,KIF6:NM_145027:exon13:c.C1477T:p.L493F",T,.,N,T,N,T
chr6,52144363,52144363,C,T,P404679_S,MCM3,Missense_Mutation,NM_001270472,exon4,c.G428A,p.G143D,SNP,SNVindel,exonic,MCM3,NA,nonsynonymous SNV,"MCM3:NM_001270472:exon4:c.G428A:p.G143D,MCM3:NM_001366369:exon5:c.G566A:p.G189D,MCM3:NM_001366370:exon5:c.G566A:p.G189D,MCM3:NM_002388:exon5:c.G566A:p.G189D,MCM3:NM_001366373:exon6:c.G47A:p.G16D",D,D,D,T,D,T
chr7,6836259,6836259,C,T,P404679_S,RSPH10B,Missense_Mutation,NM_001099697,exon20,c.C2294T,p.T765M,SNP,SNVindel,exonic,RSPH10B;RSPH10B2,NA,nonsynonymous SNV,"RSPH10B2:NM_001099697:exon20:c.C2294T:p.T765M,RSPH10B:NM_173565:exon20:c.C2294T:p.T765M",T,N,P,T,N,T
chr7,30491972,30491972,G,A,P404679_S,NOD1,Missense_Mutation,NM_001354849,exon6,c.C1061T,p.P354L,SNP,SNVindel,exonic,NOD1,NA,nonsynonymous SNV,"NOD1:NM_001354849:exon6:c.C1061T:p.P354L,NOD1:NM_006092:exon6:c.C1061T:p.P354L",D,D,D,T,D,T
chr7,99914759,99914759,A,G,P404679_S,SPDYE3,Missense_Mutation,NM_001004351,exon8,c.A1327G,p.I443V,SNP,SNVindel,exonic,SPDYE3,NA,nonsynonymous SNV,SPDYE3:NM_001004351:exon8:c.A1327G:p.I443V,D,N,N,.,N,T
chr7,142919344,142919344,G,A,P404679_S,TAS2R40,Missense_Mutation,NM_176882,exon1,c.G173A,p.R58H,SNP,SNVindel,exonic,TAS2R40,NA,nonsynonymous SNV,TAS2R40:NM_176882:exon1:c.G173A:p.R58H,T,N,N,T,N,T
chr8,10467702,10467702,T,C,P404679_S,RP1L1,Silent,NM_178857,exon4,c.A3906G,p.Q1302Q,SNP,SNVindel,exonic,RP1L1,NA,synonymous SNV,RP1L1:NM_178857:exon4:c.A3906G:p.Q1302Q,NA,NA,NA,NA,NA,NA
chr9,27566695,27566695,C,T,P404679_S,C9orf72,Missense_Mutation,NM_001256054,exon2,c.G424A,p.G142R,SNP,SNVindel,exonic,C9orf72,NA,nonsynonymous SNV,"C9orf72:NM_001256054:exon2:c.G424A:p.G142R,C9orf72:NM_018325:exon2:c.G424A:p.G142R,C9orf72:NM_145005:exon2:c.G424A:p.G142R",D,D,D,T,N,T
chr9,86495335,86495335,C,T,P404679_S,KIF27,Silent,NM_001271928,exon11,c.G2520A,p.E840E,SNP,SNVindel,exonic,KIF27,NA,synonymous SNV,"KIF27:NM_001271928:exon11:c.G2520A:p.E840E,KIF27:NM_001354070:exon11:c.G1080A:p.E360E,KIF27:NM_001354071:exon11:c.G1080A:p.E360E,KIF27:NM_017576:exon11:c.G2520A:p.E840E,KIF27:NM_001354069:exon12:c.G2520A:p.E840E",NA,NA,NA,NA,NA,NA
chr11,428120,428120,C,T,P404679_S,ANO9,Silent,NM_001347882,exon14,c.G870A,p.S290S,SNP,SNVindel,exonic,ANO9,NA,synonymous SNV,"ANO9:NM_001347882:exon14:c.G870A:p.S290S,ANO9:NM_001012302:exon15:c.G1302A:p.S434S",NA,NA,NA,NA,NA,NA
chr11,1094844,1094844,G,A,P404679_S,MUC2,Missense_Mutation,NM_002457,exon32,c.G5932A,p.D1978N,SNP,SNVindel,exonic,MUC2,NA,nonsynonymous SNV,MUC2:NM_002457:exon32:c.G5932A:p.D1978N,NA,NA,NA,NA,NA,NA
chr11,59189790,59189790,G,A,P404679_S,OR5A2,Silent,NM_001001954,exon1,c.C637T,p.L213L,SNP,SNVindel,exonic,OR5A2,NA,synonymous SNV,OR5A2:NM_001001954:exon1:c.C637T:p.L213L,NA,NA,NA,NA,NA,NA
chr12,48477430,48477430,G,A,P404679_S,SENP1,Nonsense_Mutation,NM_001267594,exon6,c.C496T,p.R166X,SNP,SNVindel,exonic,SENP1,NA,stopgain,"SENP1:NM_001267594:exon6:c.C496T:p.R166X,SENP1:NM_001267595:exon6:c.C496T:p.R166X",.,N,A,.,.,.
chr12,107713676,107713676,C,T,P404679_S,BTBD11,Missense_Mutation,NM_001018072,exon1,c.C959T,p.A320V,SNP,SNVindel,exonic,BTBD11,NA,nonsynonymous SNV,"BTBD11:NM_001018072:exon1:c.C959T:p.A320V,BTBD11:NM_001347943:exon1:c.C959T:p.A320V",T,N,N,T,N,T
chr13,61985764,61985764,T,A,P404679_S,PCDH20,Missense_Mutation,NM_022843,exon2,c.A2468T,p.K823I,SNP,SNVindel,exonic,PCDH20,NA,nonsynonymous SNV,PCDH20:NM_022843:exon2:c.A2468T:p.K823I,D,D,D,T,D,T
chr14,101005316,101005316,G,A,P404679_S,BEGAIN,Missense_Mutation,NM_001159531,exon6,c.C772T,p.R258W,SNP,SNVindel,exonic,BEGAIN,NA,nonsynonymous SNV,"BEGAIN:NM_001159531:exon6:c.C772T:p.R258W,BEGAIN:NM_020836:exon7:c.C772T:p.R258W",D,N,D,.,D,T
chr15,24921736,24921736,G,A,P404679_S,NPAP1,Missense_Mutation,NM_018958,exon1,c.G722A,p.S241N,SNP,SNVindel,exonic,NPAP1,NA,nonsynonymous SNV,NPAP1:NM_018958:exon1:c.G722A:p.S241N,D,N,N,T,D,T
chr15,55484973,55484973,C,T,P404679_S,RSL24D1,Missense_Mutation,NM_016304,exon2,c.G140A,p.R47H,SNP,SNVindel,exonic,RSL24D1,NA,nonsynonymous SNV,RSL24D1:NM_016304:exon2:c.G140A:p.R47H,T,D,D,.,D,T
chr16,3556366,3556366,A,C,P404679_S,CLUAP1,Missense_Mutation,NM_001330454,exon3,c.A170C,p.D57A,SNP,SNVindel,exonic,CLUAP1,NA,nonsynonymous SNV,"CLUAP1:NM_001330454:exon3:c.A170C:p.D57A,CLUAP1:NM_015041:exon3:c.A170C:p.D57A",D,D,D,T,D,T
chr16,12136822,12136822,C,T,P404679_S,SNX29,Missense_Mutation,NM_032167,exon5,c.C316T,p.R106C,SNP,SNVindel,exonic,SNX29,NA,nonsynonymous SNV,SNX29:NM_032167:exon5:c.C316T:p.R106C,D,N,D,T,D,T
chr16,14738226,14738226,A,G,P404679_S,BFAR,Missense_Mutation,NM_001330500,exon2,c.A23G,p.Y8C,SNP,SNVindel,exonic,BFAR,NA,nonsynonymous SNV,"BFAR:NM_001330500:exon2:c.A23G:p.Y8C,BFAR:NM_016561:exon2:c.A23G:p.Y8C",T,N,N,T,N,T
chr16,67154074,67154074,G,A,P404679_S,C16orf70,Missense_Mutation,NM_025187,exon2,c.G124A,p.V42I,SNP,SNVindel,exonic,C16orf70,NA,nonsynonymous SNV,"C16orf70:NM_025187:exon2:c.G124A:p.V42I,C16orf70:NM_001320540:exon3:c.G124A:p.V42I,C16orf70:NM_001320541:exon3:c.G124A:p.V42I,C16orf70:NM_001320542:exon3:c.G124A:p.V42I,C16orf70:NM_001320543:exon3:c.G124A:p.V42I",T,D,D,.,N,T
chr16,75675608,75675608,G,A,P404679_S,KARS,Missense_Mutation,NM_005548,exon2,c.C76T,p.R26C,SNP,SNVindel,exonic,KARS,NA,nonsynonymous SNV,"KARS:NM_005548:exon2:c.C76T:p.R26C,KARS:NM_001130089:exon3:c.C160T:p.R54C",D,D,D,T,D,D
chr17,3563917,3563917,G,A,P404679_S,CTNS,Silent,NM_001031681,exon13,c.G1092A,p.Q364Q,SNP,SNVindel,exonic,CTNS,NA,synonymous SNV,CTNS:NM_001031681:exon13:c.G1092A:p.Q364Q,NA,NA,NA,NA,NA,NA
chr17,39535273,39535273,G,A,P404679_S,KRT34,Silent,NM_021013,exon6,c.C1158T,p.D386D,SNP,SNVindel,exonic,KRT34,NA,synonymous SNV,KRT34:NM_021013:exon6:c.C1158T:p.D386D,NA,NA,NA,NA,NA,NA
chr18,43528529,43528529,T,C,P404679_S,EPG5,Missense_Mutation,NM_020964,exon6,c.A1511G,p.H504R,SNP,SNVindel,exonic,EPG5,NA,nonsynonymous SNV,EPG5:NM_020964:exon6:c.A1511G:p.H504R,T,N,N,T,N,T
chr18,67993382,67993382,G,A,P404679_S,SOCS6,Missense_Mutation,NM_004232,exon2,c.G1478A,p.R493Q,SNP,SNVindel,exonic,SOCS6,NA,nonsynonymous SNV,SOCS6:NM_004232:exon2:c.G1478A:p.R493Q,D,D,D,T,D,T
chr19,13445285,13445285,G,A,P404679_S,CACNA1A,Missense_Mutation,NM_001127221,exon8,c.C1105T,p.R369W,SNP,SNVindel,exonic,CACNA1A,NA,nonsynonymous SNV,"CACNA1A:NM_001127221:exon8:c.C1105T:p.R369W,CACNA1A:NM_001127222:exon8:c.C1105T:p.R369W",D,D,D,D,D,D
chr19,55493791,55493791,C,T,P404679_S,NLRP2,Missense_Mutation,NM_001174082,exon5,c.C659T,p.A220V,SNP,SNVindel,exonic,NLRP2,NA,nonsynonymous SNV,"NLRP2:NM_001174082:exon5:c.C659T:p.A220V,NLRP2:NM_001174081:exon6:c.C725T:p.A242V,NLRP2:NM_001348003:exon6:c.C716T:p.A239V,NLRP2:NM_017852:exon6:c.C725T:p.A242V,NLRP2:NM_001174083:exon7:c.C656T:p.A219V",T,.,N,T,N,T
chr20,19646529,19646529,T,G,P404679_S,SLC24A3,Missense_Mutation,NM_020689,exon8,c.T709G,p.S237A,SNP,SNVindel,exonic,SLC24A3,NA,nonsynonymous SNV,SLC24A3:NM_020689:exon8:c.T709G:p.S237A,T,N,D,T,N,T
chr21,45547925,45547925,C,T,P404679_S,LOC102724159,Silent,NM_001368238,exon18,c.C2253T,p.R751R,SNP,SNVindel,exonic,LOC102724159;PWP2,NA,synonymous SNV,"LOC102724159:NM_001368238:exon18:c.C2253T:p.R751R,PWP2:NM_005049:exon18:c.C2253T:p.R751R",NA,NA,NA,NA,NA,NA
chr22,32110101,32110101,G,A,P404679_S,PRR14L,Missense_Mutation,NM_173566,exon4,c.C3724T,p.P1242S,SNP,SNVindel,exonic,PRR14L,NA,nonsynonymous SNV,PRR14L:NM_173566:exon4:c.C3724T:p.P1242S,T,N,N,T,N,T
chrX,49355893,49355893,C,G,P404679_S,GAGE2A,Missense_Mutation,NM_001127212,exon3,c.C175G,p.Q59E,SNP,SNVindel,exonic,GAGE2A,NA,nonsynonymous SNV,GAGE2A:NM_001127212:exon3:c.C175G:p.Q59E,T,.,P,T,N,T
chrX,125299639,125299639,C,T,P404679_S,DCAF12L2,Missense_Mutation,NM_001013628,exon1,c.G269A,p.R90H,SNP,SNVindel,exonic,DCAF12L2,NA,nonsynonymous SNV,DCAF12L2:NM_001013628:exon1:c.G269A:p.R90H,T,.,N,T,N,T
chr1,15772212,15772212,C,T,P411907_F,CTRC,Missense_Mutation,NM_007272,exon7,c.C760T,p.R254W,SNP,SNVindel,exonic,CTRC,NA,nonsynonymous SNV,CTRC:NM_007272:exon7:c.C760T:p.R254W,D,D,D,D,D,D
chr1,24411082,24411082,T,A,P411907_F,MYOM3,Missense_Mutation,NM_152372,exon16,c.A1846T,p.T616S,SNP,SNVindel,exonic,MYOM3,NA,nonsynonymous SNV,MYOM3:NM_152372:exon16:c.A1846T:p.T616S,T,D,D,T,D,T
chr1,26650800,26650800,C,T,P411907_F,CRYBG2,Missense_Mutation,NM_001039775,exon18,c.G4580A,p.R1527H,SNP,SNVindel,exonic,CRYBG2,NA,nonsynonymous SNV,CRYBG2:NM_001039775:exon18:c.G4580A:p.R1527H,D,D,D,T,D,T
chr2,71783177,71783177,C,T,P411907_F,DYSF,Missense_Mutation,NM_001130976,exon21,c.C2096T,p.T699M,SNP,SNVindel,exonic,DYSF,NA,nonsynonymous SNV,"DYSF:NM_001130976:exon21:c.C2096T:p.T699M,DYSF:NM_001130977:exon21:c.C2096T:p.T699M,DYSF:NM_001130984:exon21:c.C2099T:p.T700M,DYSF:NM_001130986:exon21:c.C2099T:p.T700M,DYSF:NM_001130455:exon22:c.C2141T:p.T714M,DYSF:NM_001130978:exon22:c.C2138T:p.T713M,DYSF:NM_001130980:exon22:c.C2189T:p.T730M,DYSF:NM_001130981:exon22:c.C2189T:p.T730M,DYSF:NM_001130983:exon22:c.C2141T:p.T714M,DYSF:NM_001130985:exon22:c.C2192T:p.T731M,DYSF:NM_001130987:exon22:c.C2192T:p.T731M,DYSF:NM_003494:exon22:c.C2138T:p.T713M,DYSF:NM_001130979:exon23:c.C2231T:p.T744M,DYSF:NM_001130982:exon23:c.C2234T:p.T745M",T,N,N,T,N,T
chr2,97493570,97493570,G,A,P411907_F,CNNM3,Missense_Mutation,NM_199078,exon3,c.G1478A,p.R493Q,SNP,SNVindel,exonic,CNNM3,NA,nonsynonymous SNV,"CNNM3:NM_199078:exon3:c.G1478A:p.R493Q,CNNM3:NM_017623:exon4:c.G1622A:p.R541Q",D,D,D,T,N,T
chr2,98201529,98201529,C,T,P411907_F,ANKRD36B,Missense_Mutation,NM_001353337,exon3,c.G328A,p.A110T,SNP,SNVindel,exonic,ANKRD36B,NA,nonsynonymous SNV,"ANKRD36B:NM_001353337:exon3:c.G328A:p.A110T,ANKRD36B:NM_025190:exon3:c.G328A:p.A110T",.,.,.,.,.,.
chr2,152348906,152348906,A,G,P411907_F,NEB,Missense_Mutation,NM_004543,exon145,c.T19300C,p.S6434P,SNP,SNVindel,exonic,NEB,NA,nonsynonymous SNV,"NEB:NM_004543:exon145:c.T19300C:p.S6434P,NEB:NM_001164507:exon177:c.T24868C:p.S8290P,NEB:NM_001164508:exon177:c.T24868C:p.S8290P,NEB:NM_001271208:exon178:c.T24973C:p.S8325P",D,D,D,D,D,D
chr2,179441341,179441341,G,A,P411907_F,TTN,Silent,NM_003319,exon153,c.C42435T,p.Y14145Y,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon153:c.C42435T:p.Y14145Y,TTN:NM_133432:exon154:c.C42810T:p.Y14270Y,TTN:NM_133437:exon154:c.C43011T:p.Y14337Y,TTN:NM_133378:exon274:c.C61926T:p.Y20642Y,TTN:NM_001256850:exon275:c.C64707T:p.Y21569Y,TTN:NM_001267550:exon325:c.C69630T:p.Y23210Y",NA,NA,NA,NA,NA,NA
chr2,179632594,179632594,C,G,P411907_F,TTN,Missense_Mutation,NM_003319,exon39,c.G9225C,p.M3075I,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon39:c.G9225C:p.M3075I,TTN:NM_133432:exon39:c.G9225C:p.M3075I,TTN:NM_133437:exon39:c.G9225C:p.M3075I,TTN:NM_001256850:exon40:c.G9363C:p.M3121I,TTN:NM_001267550:exon40:c.G9363C:p.M3121I,TTN:NM_133378:exon40:c.G9363C:p.M3121I,TTN:NM_133379:exon40:c.G9363C:p.M3121I",T,.,D,T,D,T
chr2,186669103,186669103,A,T,P411907_F,FSIP2,Missense_Mutation,NM_173651,exon17,c.A15070T,p.I5024L,SNP,SNVindel,exonic,FSIP2,NA,nonsynonymous SNV,FSIP2:NM_173651:exon17:c.A15070T:p.I5024L,T,.,N,T,N,T
chr2,233195486,233195486,G,A,P411907_F,DIS3L2,Silent,NM_152383,exon16,c.G2010A,p.Q670Q,SNP,SNVindel,exonic,DIS3L2,NA,synonymous SNV,DIS3L2:NM_152383:exon16:c.G2010A:p.Q670Q,NA,NA,NA,NA,NA,NA
chr3,128126922,128126922,C,T,P411907_F,EEFSEC,Silent,NM_021937,exon7,c.C1611T,p.S537S,SNP,SNVindel,exonic,EEFSEC,NA,synonymous SNV,EEFSEC:NM_021937:exon7:c.C1611T:p.S537S,T,.,D,T,N,T
chr3,154889935,154889935,C,T,P411907_F,MME,Silent,NM_000902,exon21,c.C2010T,p.G670G,SNP,SNVindel,exonic,MME,NA,synonymous SNV,"MME:NM_000902:exon21:c.C2010T:p.G670G,MME:NM_001354642:exon21:c.C2010T:p.G670G,MME:NM_001354643:exon21:c.C2010T:p.G670G,MME:NM_007287:exon21:c.C2010T:p.G670G,MME:NM_007288:exon21:c.C2010T:p.G670G,MME:NM_007289:exon21:c.C2010T:p.G670G",NA,NA,NA,NA,NA,NA
chr3,194968556,194968556,C,T,P411907_F,XXYLT1,Missense_Mutation,NM_001308069,exon1,c.G11A,p.C4Y,SNP,SNVindel,exonic,XXYLT1,NA,nonsynonymous SNV,XXYLT1:NM_001308069:exon1:c.G11A:p.C4Y,T,.,N,.,N,T
chr4,71347171,71347171,C,T,P411907_F,MUC7,Missense_Mutation,NM_152291,exon3,c.C710T,p.A237V,SNP,SNVindel,exonic,MUC7,NA,nonsynonymous SNV,"MUC7:NM_152291:exon3:c.C710T:p.A237V,MUC7:NM_001145006:exon4:c.C710T:p.A237V,MUC7:NM_001145007:exon4:c.C710T:p.A237V",T,.,N,T,N,T
chr4,95444996,95444996,G,T,P411907_F,PDLIM5,Missense_Mutation,NM_001011513,exon3,c.G218T,p.C73F,SNP,SNVindel,exonic,PDLIM5,NA,nonsynonymous SNV,"PDLIM5:NM_001011513:exon3:c.G218T:p.C73F,PDLIM5:NM_001011515:exon3:c.G218T:p.C73F,PDLIM5:NM_001011516:exon3:c.G218T:p.C73F,PDLIM5:NM_001256426:exon3:c.G218T:p.C73F,PDLIM5:NM_001256427:exon3:c.G218T:p.C73F,PDLIM5:NM_006457:exon3:c.G218T:p.C73F",D,D,D,T,D,D
chr4,144922436,144922436,T,G,P411907_F,GYPB,Missense_Mutation,NM_002100,exon2,c.A38C,p.E13A,SNP,SNVindel,exonic,GYPB,NA,nonsynonymous SNV,GYPB:NM_002100:exon2:c.A38C:p.E13A,T,.,N,T,N,T
chr4,152204330,152204330,T,C,P411907_F,PRSS48,Silent,NM_183375,exon4,c.T543C,p.C181C,SNP,SNVindel,exonic,PRSS48,NA,synonymous SNV,PRSS48:NM_183375:exon4:c.T543C:p.C181C,NA,NA,NA,NA,NA,NA
chr5,68715657,68715657,G,C,P411907_F,MARVELD2,Missense_Mutation,NM_001038603,exon2,c.G445C,p.E149Q,SNP,SNVindel,exonic,MARVELD2,NA,nonsynonymous SNV,"MARVELD2:NM_001038603:exon2:c.G445C:p.E149Q,MARVELD2:NM_001244734:exon2:c.G445C:p.E149Q",T,D,D,T,N,T
chr5,140573991,140573991,G,C,P411907_F,PCDHB10,Silent,NM_018930,exon1,c.G1866C,p.G622G,SNP,SNVindel,exonic,PCDHB10,NA,synonymous SNV,PCDHB10:NM_018930:exon1:c.G1866C:p.G622G,NA,NA,NA,NA,NA,NA
chr7,55233043,55233043,G,T,P411907_F,EGFR,Missense_Mutation,NM_001346941,exon9,c.G992T,p.G331V,SNP,SNVindel,exonic,EGFR,NA,nonsynonymous SNV,"EGFR:NM_001346941:exon9:c.G992T:p.G331V,EGFR:NM_001346897:exon14:c.G1658T:p.G553V,EGFR:NM_001346899:exon14:c.G1658T:p.G553V,EGFR:NM_001346898:exon15:c.G1793T:p.G598V,EGFR:NM_001346900:exon15:c.G1634T:p.G545V,EGFR:NM_005228:exon15:c.G1793T:p.G598V,EGFR:NM_201282:exon15:c.G1793T:p.G598V,EGFR:NM_201284:exon15:c.G1793T:p.G598V",D,D,D,T,D,T
chr7,95157609,95157609,C,A,P411907_F,ASB4,Missense_Mutation,NM_016116,exon3,c.C972A,p.F324L,SNP,SNVindel,exonic,ASB4,NA,nonsynonymous SNV,"ASB4:NM_016116:exon3:c.C972A:p.F324L,ASB4:NM_145872:exon3:c.C972A:p.F324L",T,D,D,T,N,T
chr7,144062314,144062314,C,A,P411907_F,ARHGEF5,Missense_Mutation,NM_005435,exon2,c.C2552A,p.P851Q,SNP,SNVindel,exonic,ARHGEF5,NA,nonsynonymous SNV,ARHGEF5:NM_005435:exon2:c.C2552A:p.P851Q,D,N,N,D,D,D
chr8,70744582,70744582,G,A,P411907_F,SLCO5A1,Silent,NM_001146008,exon1,c.C327T,p.S109S,SNP,SNVindel,exonic,SLCO5A1,NA,synonymous SNV,"SLCO5A1:NM_001146008:exon1:c.C327T:p.S109S,SLCO5A1:NM_001146009:exon1:c.C327T:p.S109S,SLCO5A1:NM_030958:exon2:c.C327T:p.S109S",NA,NA,NA,NA,NA,NA
chr9,37887993,37887993,G,T,P411907_F,SLC25A51,Silent,NM_033412,exon3,c.C555A,p.L185L,SNP,SNVindel,exonic,SLC25A51,NA,synonymous SNV,SLC25A51:NM_033412:exon3:c.C555A:p.L185L,NA,NA,NA,NA,NA,NA
chr9,135862072,135862072,C,T,P411907_F,GFI1B,Missense_Mutation,NM_001135031,exon2,c.C7T,p.R3C,SNP,SNVindel,exonic,GFI1B,NA,nonsynonymous SNV,"GFI1B:NM_001135031:exon2:c.C7T:p.R3C,GFI1B:NM_004188:exon6:c.C7T:p.R3C",D,D,D,T,D,T
chr10,64416211,64416211,T,C,P411907_F,ZNF365,Silent,NM_199452,exon5,c.T447C,p.N149N,SNP,SNVindel,exonic,ZNF365,NA,synonymous SNV,"ZNF365:NM_199452:exon5:c.T447C:p.N149N,ZNF365:NM_199451:exon6:c.T1185C:p.N395N",NA,NA,NA,NA,NA,NA
chr11,4623403,4623403,C,A,P411907_F,TRIM68,Missense_Mutation,NM_001304496,exon3,c.G93T,p.R31S,SNP,SNVindel,exonic,TRIM68,NA,nonsynonymous SNV,"TRIM68:NM_001304496:exon3:c.G93T:p.R31S,TRIM68:NM_018073:exon4:c.G762T:p.R254S",T,N,N,T,N,T
chr11,63141470,63141470,C,T,P411907_F,SLC22A9,Nonsense_Mutation,NM_080866,exon4,c.C766T,p.R256X,SNP,SNVindel,exonic,SLC22A9,NA,stopgain,SLC22A9:NM_080866:exon4:c.C766T:p.R256X,.,D,A,.,.,.
chr12,50746514,50746514,G,C,P411907_F,FAM186A,Missense_Mutation,NM_001145475,exon4,c.C4101G,p.H1367Q,SNP,SNVindel,exonic,FAM186A,NA,nonsynonymous SNV,FAM186A:NM_001145475:exon4:c.C4101G:p.H1367Q,T,.,N,T,N,T
chr13,113761200,113761200,C,T,P411907_F,F7,Missense_Mutation,NM_000131,exon2,c.C106T,p.P36S,SNP,SNVindel,exonic,F7,NA,nonsynonymous SNV,F7:NM_000131:exon2:c.C106T:p.P36S,T,.,N,D,N,T
chr15,48718061,48718061,T,A,P411907_F,FBN1,Missense_Mutation,NM_000138,exon59,c.A7205T,p.D2402V,SNP,SNVindel,exonic,FBN1,NA,nonsynonymous SNV,FBN1:NM_000138:exon59:c.A7205T:p.D2402V,D,D,D,D,D,D
chr15,75982085,75982085,C,T,P411907_F,CSPG4,Missense_Mutation,NM_001897,exon3,c.G1321A,p.E441K,SNP,SNVindel,exonic,CSPG4,NA,nonsynonymous SNV,CSPG4:NM_001897:exon3:c.G1321A:p.E441K,D,D,D,T,D,T
chr15,85787825,85787825,C,T,P411907_F,GOLGA6L3,Missense_Mutation,NM_001310153,exon6,c.C604T,p.R202C,SNP,SNVindel,exonic,GOLGA6L3,NA,nonsynonymous SNV,GOLGA6L3:NM_001310153:exon6:c.C604T:p.R202C,NA,NA,NA,NA,NA,NA
chr17,3324383,3324383,G,A,P411907_F,OR3A3,Silent,NM_012373,exon1,c.G522A,p.T174T,SNP,SNVindel,exonic,OR3A3,NA,synonymous SNV,OR3A3:NM_012373:exon1:c.G522A:p.T174T,NA,NA,NA,NA,NA,NA
chr17,10222331,10222331,C,A,P411907_F,MYH13,Nonsense_Mutation,NM_003802,exon27,c.G3514T,p.E1172X,SNP,SNVindel,exonic,MYH13,NA,stopgain,MYH13:NM_003802:exon27:c.G3514T:p.E1172X,.,.,A,.,.,.
chr17,40716817,40716817,G,A,P411907_F,COASY,Missense_Mutation,NM_025233,exon4,c.G1138A,p.G380S,SNP,SNVindel,exonic,COASY,NA,nonsynonymous SNV,"COASY:NM_025233:exon4:c.G1138A:p.G380S,COASY:NM_001042529:exon5:c.G1138A:p.G380S,COASY:NM_001042532:exon6:c.G1225A:p.G409S",T,N,N,T,N,T
chr18,61324581,61324581,C,T,P411907_F,SERPINB3,Missense_Mutation,NM_006919,exon6,c.G535A,p.A179T,SNP,SNVindel,exonic,SERPINB3,NA,nonsynonymous SNV,SERPINB3:NM_006919:exon6:c.G535A:p.A179T,T,N,D,D,D,D
chr19,7809903,7809903,C,T,P411907_F,CD209,Missense_Mutation,NM_001144893,exon3,c.G416A,p.R139Q,SNP,SNVindel,exonic,CD209,NA,nonsynonymous SNV,"CD209:NM_001144893:exon3:c.G416A:p.R139Q,CD209:NM_001144894:exon3:c.G692A:p.R231Q,CD209:NM_001144896:exon4:c.G752A:p.R251Q,CD209:NM_001144895:exon5:c.G548A:p.R183Q,CD209:NM_001144897:exon5:c.G824A:p.R275Q,CD209:NM_001144899:exon5:c.G341A:p.R114Q,CD209:NM_021155:exon5:c.G824A:p.R275Q",T,.,N,T,D,T
chr19,43433623,43433623,C,T,P411907_F,PSG7,Missense_Mutation,NM_001206650,exon2,c.G314A,p.R105H,SNP,SNVindel,exonic,PSG7,NA,nonsynonymous SNV,"PSG7:NM_001206650:exon2:c.G314A:p.R105H,PSG7:NM_001290042:exon3:c.G137A:p.R46H",.,.,.,.,.,.
chr20,30072137,30072137,C,T,P411907_F,REM1,Silent,NM_014012,exon5,c.C801T,p.R267R,SNP,SNVindel,exonic,REM1,NA,synonymous SNV,REM1:NM_014012:exon5:c.C801T:p.R267R,NA,NA,NA,NA,NA,NA
chr21,43803198,43803198,G,A,P411907_F,TMPRSS3,Silent,NM_032404,exon5,c.C345T,p.C115C,SNP,SNVindel,exonic,TMPRSS3,NA,synonymous SNV,"TMPRSS3:NM_032404:exon5:c.C345T:p.C115C,TMPRSS3:NM_001256317:exon8:c.C726T:p.C242C,TMPRSS3:NM_024022:exon8:c.C726T:p.C242C,TMPRSS3:NM_032405:exon8:c.C726T:p.C242C",NA,NA,NA,NA,NA,NA
chrX,27479742,27479742,G,A,P411907_F,PPP4R3C,Missense_Mutation,NM_207319,exon1,c.C1672T,p.L558F,SNP,SNVindel,exonic,PPP4R3C,NA,nonsynonymous SNV,PPP4R3C:NM_207319:exon1:c.C1672T:p.L558F,NA,NA,NA,NA,NA,NA
chrX,51075841,51075841,A,G,P411907_F,NUDT10,Silent,NM_001304963,exon1,c.A24G,p.T8T,SNP,SNVindel,exonic,NUDT10,NA,synonymous SNV,"NUDT10:NM_001304963:exon1:c.A24G:p.T8T,NUDT10:NM_153183:exon2:c.A24G:p.T8T",NA,NA,NA,NA,NA,NA
chrX,102864442,102864442,A,G,P411907_F,TCEAL3,Silent,NM_001006933,exon3,c.A450G,p.Q150Q,SNP,SNVindel,exonic,TCEAL3,NA,synonymous SNV,"TCEAL3:NM_001006933:exon3:c.A450G:p.Q150Q,TCEAL3:NM_032926:exon3:c.A450G:p.Q150Q",NA,NA,NA,NA,NA,NA
chrX,123179165,123179165,C,G,P411907_F,STAG2,Missense_Mutation,NM_006603,exon7,c.C614G,p.T205R,SNP,SNVindel,exonic,STAG2,NA,nonsynonymous SNV,"STAG2:NM_006603:exon7:c.C614G:p.T205R,STAG2:NM_001042749:exon8:c.C614G:p.T205R,STAG2:NM_001042750:exon8:c.C614G:p.T205R,STAG2:NM_001042751:exon8:c.C614G:p.T205R,STAG2:NM_001282418:exon8:c.C614G:p.T205R",D,D,D,T,D,T
chr1,15772212,15772212,C,T,P411907_S,CTRC,Missense_Mutation,NM_007272,exon7,c.C760T,p.R254W,SNP,SNVindel,exonic,CTRC,NA,nonsynonymous SNV,CTRC:NM_007272:exon7:c.C760T:p.R254W,D,D,D,D,D,D
chr1,22032269,22032269,C,G,P411907_S,USP48,Missense_Mutation,NM_001350164,exon18,c.G2134C,p.G712R,SNP,SNVindel,exonic,USP48,NA,nonsynonymous SNV,"USP48:NM_001350164:exon18:c.G2134C:p.G712R,USP48:NM_001330394:exon19:c.G2335C:p.G779R,USP48:NM_001350166:exon19:c.G2329C:p.G777R,USP48:NM_001350167:exon19:c.G2332C:p.G778R,USP48:NM_001350168:exon19:c.G2332C:p.G778R,USP48:NM_032236:exon19:c.G2335C:p.G779R",D,D,D,T,N,T
chr1,24411082,24411082,T,A,P411907_S,MYOM3,Missense_Mutation,NM_152372,exon16,c.A1846T,p.T616S,SNP,SNVindel,exonic,MYOM3,NA,nonsynonymous SNV,MYOM3:NM_152372:exon16:c.A1846T:p.T616S,T,D,D,T,D,T
chr1,43885453,43885453,G,A,P411907_S,SZT2,Missense_Mutation,NM_001365999,exon8,c.G928A,p.V310M,SNP,SNVindel,exonic,SZT2,NA,nonsynonymous SNV,"SZT2:NM_001365999:exon8:c.G928A:p.V310M,SZT2:NM_015284:exon8:c.G928A:p.V310M",T,.,D,.,N,.
chr1,155324328,155324328,A,C,P411907_S,ASH1L,Missense_Mutation,NM_001366177,exon16,c.T7164G,p.I2388M,SNP,SNVindel,exonic,ASH1L,NA,nonsynonymous SNV,"ASH1L:NM_001366177:exon16:c.T7164G:p.I2388M,ASH1L:NM_018489:exon16:c.T7149G:p.I2383M",D,N,N,D,N,T
chr1,158632663,158632663,T,C,P411907_S,SPTA1,Missense_Mutation,NM_003126,exon17,c.A2293G,p.R765G,SNP,SNVindel,exonic,SPTA1,NA,nonsynonymous SNV,SPTA1:NM_003126:exon17:c.A2293G:p.R765G,D,N,N,T,D,T
chr1,167096889,167096889,A,G,P411907_S,DUSP27,Missense_Mutation,NM_001080426,exon6,c.A2521G,p.K841E,SNP,SNVindel,exonic,DUSP27,NA,nonsynonymous SNV,DUSP27:NM_001080426:exon6:c.A2521G:p.K841E,D,N,N,T,N,T
chr1,172356411,172356411,C,G,P411907_S,DNM3,Missense_Mutation,NM_001136127,exon18,c.C2185G,p.L729V,SNP,SNVindel,exonic,DNM3,NA,nonsynonymous SNV,"DNM3:NM_001136127:exon18:c.C2185G:p.L729V,DNM3:NM_001350204:exon19:c.C2215G:p.L739V,DNM3:NM_001350206:exon19:c.C2215G:p.L739V,DNM3:NM_015569:exon19:c.C2197G:p.L733V",D,D,D,T,N,T
chr1,202934522,202934522,C,T,P411907_S,CYB5R1,Missense_Mutation,NM_016243,exon5,c.G452A,p.G151E,SNP,SNVindel,exonic,CYB5R1,NA,nonsynonymous SNV,CYB5R1:NM_016243:exon5:c.G452A:p.G151E,D,D,D,D,D,D
chr1,205116855,205116855,A,T,P411907_S,DSTYK,Missense_Mutation,NM_199462,exon12,c.T2486A,p.L829H,SNP,SNVindel,exonic,DSTYK,NA,nonsynonymous SNV,"DSTYK:NM_199462:exon12:c.T2486A:p.L829H,DSTYK:NM_015375:exon13:c.T2621A:p.L874H",D,D,D,T,D,D
chr1,225391952,225391952,T,A,P411907_S,DNAH14,Missense_Mutation,NM_001367479,exon39,c.T5954A,p.V1985D,SNP,SNVindel,exonic,DNAH14,NA,nonsynonymous SNV,DNAH14:NM_001367479:exon39:c.T5954A:p.V1985D,T,.,N,D,N,T
chr1,229771928,229771928,C,G,P411907_S,URB2,Missense_Mutation,NM_001314021,exon4,c.C1568G,p.S523C,SNP,SNVindel,exonic,URB2,NA,nonsynonymous SNV,"URB2:NM_001314021:exon4:c.C1568G:p.S523C,URB2:NM_014777:exon4:c.C1568G:p.S523C",D,N,N,T,N,T
chr2,71216144,71216144,G,C,P411907_S,TEX261,Missense_Mutation,NM_144582,exon5,c.C376G,p.L126V,SNP,SNVindel,exonic,TEX261,NA,nonsynonymous SNV,TEX261:NM_144582:exon5:c.C376G:p.L126V,T,D,D,.,N,T
chr2,71216145,71216145,G,T,P411907_S,TEX261,Silent,NM_144582,exon5,c.C375A,p.V125V,SNP,SNVindel,exonic,TEX261,NA,synonymous SNV,TEX261:NM_144582:exon5:c.C375A:p.V125V,NA,NA,NA,NA,NA,NA
chr2,71783177,71783177,C,T,P411907_S,DYSF,Missense_Mutation,NM_001130976,exon21,c.C2096T,p.T699M,SNP,SNVindel,exonic,DYSF,NA,nonsynonymous SNV,"DYSF:NM_001130976:exon21:c.C2096T:p.T699M,DYSF:NM_001130977:exon21:c.C2096T:p.T699M,DYSF:NM_001130984:exon21:c.C2099T:p.T700M,DYSF:NM_001130986:exon21:c.C2099T:p.T700M,DYSF:NM_001130455:exon22:c.C2141T:p.T714M,DYSF:NM_001130978:exon22:c.C2138T:p.T713M,DYSF:NM_001130980:exon22:c.C2189T:p.T730M,DYSF:NM_001130981:exon22:c.C2189T:p.T730M,DYSF:NM_001130983:exon22:c.C2141T:p.T714M,DYSF:NM_001130985:exon22:c.C2192T:p.T731M,DYSF:NM_001130987:exon22:c.C2192T:p.T731M,DYSF:NM_003494:exon22:c.C2138T:p.T713M,DYSF:NM_001130979:exon23:c.C2231T:p.T744M,DYSF:NM_001130982:exon23:c.C2234T:p.T745M",T,N,N,T,N,T
chr2,97493570,97493570,G,A,P411907_S,CNNM3,Missense_Mutation,NM_199078,exon3,c.G1478A,p.R493Q,SNP,SNVindel,exonic,CNNM3,NA,nonsynonymous SNV,"CNNM3:NM_199078:exon3:c.G1478A:p.R493Q,CNNM3:NM_017623:exon4:c.G1622A:p.R541Q",D,D,D,T,N,T
chr2,138329994,138329994,T,C,P411907_S,THSD7B,Silent,NM_001316349,exon17,c.T3291C,p.D1097D,SNP,SNVindel,exonic,THSD7B,NA,synonymous SNV,THSD7B:NM_001316349:exon17:c.T3291C:p.D1097D,NA,NA,NA,NA,NA,NA
chr2,152348906,152348906,A,G,P411907_S,NEB,Missense_Mutation,NM_004543,exon145,c.T19300C,p.S6434P,SNP,SNVindel,exonic,NEB,NA,nonsynonymous SNV,"NEB:NM_004543:exon145:c.T19300C:p.S6434P,NEB:NM_001164507:exon177:c.T24868C:p.S8290P,NEB:NM_001164508:exon177:c.T24868C:p.S8290P,NEB:NM_001271208:exon178:c.T24973C:p.S8325P",D,D,D,D,D,D
chr2,179441341,179441341,G,A,P411907_S,TTN,Silent,NM_003319,exon153,c.C42435T,p.Y14145Y,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon153:c.C42435T:p.Y14145Y,TTN:NM_133432:exon154:c.C42810T:p.Y14270Y,TTN:NM_133437:exon154:c.C43011T:p.Y14337Y,TTN:NM_133378:exon274:c.C61926T:p.Y20642Y,TTN:NM_001256850:exon275:c.C64707T:p.Y21569Y,TTN:NM_001267550:exon325:c.C69630T:p.Y23210Y",NA,NA,NA,NA,NA,NA
chr2,179632594,179632594,C,G,P411907_S,TTN,Missense_Mutation,NM_003319,exon39,c.G9225C,p.M3075I,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon39:c.G9225C:p.M3075I,TTN:NM_133432:exon39:c.G9225C:p.M3075I,TTN:NM_133437:exon39:c.G9225C:p.M3075I,TTN:NM_001256850:exon40:c.G9363C:p.M3121I,TTN:NM_001267550:exon40:c.G9363C:p.M3121I,TTN:NM_133378:exon40:c.G9363C:p.M3121I,TTN:NM_133379:exon40:c.G9363C:p.M3121I",T,.,D,T,D,T
chr2,186669103,186669103,A,T,P411907_S,FSIP2,Missense_Mutation,NM_173651,exon17,c.A15070T,p.I5024L,SNP,SNVindel,exonic,FSIP2,NA,nonsynonymous SNV,FSIP2:NM_173651:exon17:c.A15070T:p.I5024L,T,.,N,T,N,T
chr2,201369494,201369494,T,C,P411907_S,KCTD18,Missense_Mutation,NM_001321547,exon3,c.A349G,p.R117G,SNP,SNVindel,exonic,KCTD18,NA,nonsynonymous SNV,"KCTD18:NM_001321547:exon3:c.A349G:p.R117G,KCTD18:NM_152387:exon3:c.A349G:p.R117G",D,D,D,D,N,D
chr2,233195486,233195486,G,A,P411907_S,DIS3L2,Silent,NM_152383,exon16,c.G2010A,p.Q670Q,SNP,SNVindel,exonic,DIS3L2,NA,synonymous SNV,DIS3L2:NM_152383:exon16:c.G2010A:p.Q670Q,NA,NA,NA,NA,NA,NA
chr2,237074638,237074638,C,G,P411907_S,GBX2,Missense_Mutation,NM_001485,exon2,c.G966C,p.K322N,SNP,SNVindel,exonic,GBX2,NA,nonsynonymous SNV,GBX2:NM_001485:exon2:c.G966C:p.K322N,D,D,D,D,D,D
chr2,238289958,238289958,G,T,P411907_S,COL6A3,Missense_Mutation,NM_057164,exon3,c.C276A,p.F92L,SNP,SNVindel,exonic,COL6A3,NA,nonsynonymous SNV,"COL6A3:NM_057164:exon3:c.C276A:p.F92L,COL6A3:NM_057166:exon3:c.C276A:p.F92L,COL6A3:NM_057165:exon4:c.C879A:p.F293L,COL6A3:NM_057167:exon4:c.C879A:p.F293L,COL6A3:NM_004369:exon5:c.C1497A:p.F499L",T,N,D,T,N,T
chr2,238455323,238455323,C,A,P411907_S,MLPH,Silent,NM_001281473,exon10,c.C1254A,p.A418A,SNP,SNVindel,exonic,MLPH,NA,synonymous SNV,"MLPH:NM_001281473:exon10:c.C1254A:p.A418A,MLPH:NM_001281474:exon11:c.C1185A:p.A395A,MLPH:NM_001042467:exon12:c.C1530A:p.A510A,MLPH:NM_024101:exon13:c.C1614A:p.A538A",NA,NA,NA,NA,NA,NA
chr3,112546380,112546380,G,T,P411907_S,CD200R1L,Silent,NM_001008784,exon3,c.C264A,p.T88T,SNP,SNVindel,exonic,CD200R1L,NA,synonymous SNV,"CD200R1L:NM_001008784:exon3:c.C264A:p.T88T,CD200R1L:NM_001199215:exon4:c.C201A:p.T67T,CD200R1L:NM_001370552:exon5:c.C201A:p.T67T",NA,NA,NA,NA,NA,NA
chr3,128126922,128126922,C,T,P411907_S,EEFSEC,Silent,NM_021937,exon7,c.C1611T,p.S537S,SNP,SNVindel,exonic,EEFSEC,NA,synonymous SNV,EEFSEC:NM_021937:exon7:c.C1611T:p.S537S,T,.,D,T,N,T
chr3,133894546,133894546,G,T,P411907_S,RYK,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,RYK,NA,unknown,UNKNOWN,.,D,D,.,.,T
chr3,154889935,154889935,C,T,P411907_S,MME,Silent,NM_000902,exon21,c.C2010T,p.G670G,SNP,SNVindel,exonic,MME,NA,synonymous SNV,"MME:NM_000902:exon21:c.C2010T:p.G670G,MME:NM_001354642:exon21:c.C2010T:p.G670G,MME:NM_001354643:exon21:c.C2010T:p.G670G,MME:NM_007287:exon21:c.C2010T:p.G670G,MME:NM_007288:exon21:c.C2010T:p.G670G,MME:NM_007289:exon21:c.C2010T:p.G670G",NA,NA,NA,NA,NA,NA
chr3,194968556,194968556,C,T,P411907_S,XXYLT1,Missense_Mutation,NM_001308069,exon1,c.G11A,p.C4Y,SNP,SNVindel,exonic,XXYLT1,NA,nonsynonymous SNV,XXYLT1:NM_001308069:exon1:c.G11A:p.C4Y,T,.,N,.,N,T
chr4,71347171,71347171,C,T,P411907_S,MUC7,Missense_Mutation,NM_152291,exon3,c.C710T,p.A237V,SNP,SNVindel,exonic,MUC7,NA,nonsynonymous SNV,"MUC7:NM_152291:exon3:c.C710T:p.A237V,MUC7:NM_001145006:exon4:c.C710T:p.A237V,MUC7:NM_001145007:exon4:c.C710T:p.A237V",T,.,N,T,N,T
chr4,89573205,89573205,C,A,P411907_S,HERC3,Silent,NM_001271602,exon4,c.C75A,p.S25S,SNP,SNVindel,exonic,HERC3,NA,synonymous SNV,"HERC3:NM_001271602:exon4:c.C75A:p.S25S,HERC3:NM_001318505:exon5:c.C429A:p.S143S,HERC3:NM_014606:exon5:c.C429A:p.S143S",NA,NA,NA,NA,NA,NA
chr4,95444996,95444996,G,T,P411907_S,PDLIM5,Missense_Mutation,NM_001011513,exon3,c.G218T,p.C73F,SNP,SNVindel,exonic,PDLIM5,NA,nonsynonymous SNV,"PDLIM5:NM_001011513:exon3:c.G218T:p.C73F,PDLIM5:NM_001011515:exon3:c.G218T:p.C73F,PDLIM5:NM_001011516:exon3:c.G218T:p.C73F,PDLIM5:NM_001256426:exon3:c.G218T:p.C73F,PDLIM5:NM_001256427:exon3:c.G218T:p.C73F,PDLIM5:NM_006457:exon3:c.G218T:p.C73F",D,D,D,T,D,D
chr4,140811099,140811099,C,T,P411907_S,MAML3,Silent,NM_018717,exon2,c.G1491A,p.Q497Q,SNP,SNVindel,exonic,MAML3,NA,synonymous SNV,MAML3:NM_018717:exon2:c.G1491A:p.Q497Q,NA,NA,NA,NA,NA,NA
chr4,152204330,152204330,T,C,P411907_S,PRSS48,Silent,NM_183375,exon4,c.T543C,p.C181C,SNP,SNVindel,exonic,PRSS48,NA,synonymous SNV,PRSS48:NM_183375:exon4:c.T543C:p.C181C,NA,NA,NA,NA,NA,NA
chr5,68715657,68715657,G,C,P411907_S,MARVELD2,Missense_Mutation,NM_001038603,exon2,c.G445C,p.E149Q,SNP,SNVindel,exonic,MARVELD2,NA,nonsynonymous SNV,"MARVELD2:NM_001038603:exon2:c.G445C:p.E149Q,MARVELD2:NM_001244734:exon2:c.G445C:p.E149Q",T,D,D,T,N,T
chr5,150928956,150928956,A,G,P411907_S,FAT2,Silent,NM_001447,exon8,c.T4689C,p.S1563S,SNP,SNVindel,exonic,FAT2,NA,synonymous SNV,FAT2:NM_001447:exon8:c.T4689C:p.S1563S,NA,NA,NA,NA,NA,NA
chr5,167645765,167645765,T,C,P411907_S,TENM2,Silent,NM_001080428,exon19,c.T4152C,p.N1384N,SNP,SNVindel,exonic,TENM2,NA,synonymous SNV,"TENM2:NM_001080428:exon19:c.T4152C:p.N1384N,TENM2:NM_001368145:exon21:c.T4392C:p.N1464N,TENM2:NM_001368146:exon22:c.T4386C:p.N1462N,TENM2:NM_001122679:exon24:c.T4842C:p.N1614N",NA,NA,NA,NA,NA,NA
chr6,108984791,108984791,T,A,P411907_S,FOXO3,Missense_Mutation,NM_001455,exon2,c.T755A,p.V252D,SNP,SNVindel,exonic,FOXO3,NA,nonsynonymous SNV,"FOXO3:NM_001455:exon2:c.T755A:p.V252D,FOXO3:NM_201559:exon3:c.T755A:p.V252D",D,D,D,D,D,D
chr6,169637860,169637860,C,A,P411907_S,THBS2,Missense_Mutation,NM_003247,exon9,c.G1160T,p.W387L,SNP,SNVindel,exonic,THBS2,NA,nonsynonymous SNV,THBS2:NM_003247:exon9:c.G1160T:p.W387L,D,U,D,T,D,D
chr7,12680030,12680030,C,A,P411907_S,SCIN,Missense_Mutation,NM_033128,exon9,c.C728A,p.P243Q,SNP,SNVindel,exonic,SCIN,NA,nonsynonymous SNV,"SCIN:NM_033128:exon9:c.C728A:p.P243Q,SCIN:NM_001112706:exon11:c.C1469A:p.P490Q",D,D,D,T,D,T
chr7,28763874,28763874,G,T,P411907_S,CREB5,Missense_Mutation,NM_001011666,exon3,c.G210T,p.M70I,SNP,SNVindel,exonic,CREB5,NA,nonsynonymous SNV,"CREB5:NM_001011666:exon3:c.G210T:p.M70I,CREB5:NM_182899:exon6:c.G528T:p.M176I,CREB5:NM_004904:exon7:c.G606T:p.M202I,CREB5:NM_182898:exon7:c.G627T:p.M209I",T,D,D,T,N,T
chr7,47879058,47879058,G,T,P411907_S,PKD1L1,Missense_Mutation,NM_138295,exon36,c.C5755A,p.L1919I,SNP,SNVindel,exonic,PKD1L1,NA,nonsynonymous SNV,PKD1L1:NM_138295:exon36:c.C5755A:p.L1919I,T,N,N,T,N,T
chr7,55233043,55233043,G,T,P411907_S,EGFR,Missense_Mutation,NM_001346941,exon9,c.G992T,p.G331V,SNP,SNVindel,exonic,EGFR,NA,nonsynonymous SNV,"EGFR:NM_001346941:exon9:c.G992T:p.G331V,EGFR:NM_001346897:exon14:c.G1658T:p.G553V,EGFR:NM_001346899:exon14:c.G1658T:p.G553V,EGFR:NM_001346898:exon15:c.G1793T:p.G598V,EGFR:NM_001346900:exon15:c.G1634T:p.G545V,EGFR:NM_005228:exon15:c.G1793T:p.G598V,EGFR:NM_201282:exon15:c.G1793T:p.G598V,EGFR:NM_201284:exon15:c.G1793T:p.G598V",D,D,D,T,D,T
chr7,99332649,99332649,T,G,P411907_S,CYP3A7,Missense_Mutation,NM_000765,exon1,c.A68C,p.Y23S,SNP,SNVindel,exonic,CYP3A7;CYP3A7-CYP3A51P,NA,nonsynonymous SNV,"CYP3A7:NM_000765:exon1:c.A68C:p.Y23S,CYP3A7-CYP3A51P:NM_001256497:exon1:c.A68C:p.Y23S",D,N,D,T,D,T
chr7,138602479,138602479,C,T,P411907_S,KIAA1549,Silent,NM_001164665,exon2,c.G1893A,p.P631P,SNP,SNVindel,exonic,KIAA1549,NA,synonymous SNV,"KIAA1549:NM_001164665:exon2:c.G1893A:p.P631P,KIAA1549:NM_020910:exon2:c.G1893A:p.P631P",NA,NA,NA,NA,NA,NA
chr7,149172259,149172259,C,T,P411907_S,ZNF746,Missense_Mutation,NM_001163474,exon7,c.G1154A,p.R385Q,SNP,SNVindel,exonic,ZNF746,NA,nonsynonymous SNV,"ZNF746:NM_001163474:exon7:c.G1154A:p.R385Q,ZNF746:NM_001363517:exon7:c.G1196A:p.R399Q,ZNF746:NM_152557:exon7:c.G1151A:p.R384Q",D,N,N,T,N,T
chr8,12950308,12950308,C,G,P411907_S,DLC1,Missense_Mutation,NM_001348084,exon8,c.G2020C,p.A674P,SNP,SNVindel,exonic,DLC1,NA,nonsynonymous SNV,"DLC1:NM_001348084:exon8:c.G2020C:p.A674P,DLC1:NM_001164271:exon9:c.G2020C:p.A674P,DLC1:NM_001316668:exon9:c.G2344C:p.A782P,DLC1:NM_001348083:exon9:c.G2020C:p.A674P,DLC1:NM_006094:exon9:c.G2242C:p.A748P,DLC1:NM_001348082:exon12:c.G2020C:p.A674P,DLC1:NM_001348081:exon13:c.G3553C:p.A1185P,DLC1:NM_182643:exon13:c.G3553C:p.A1185P",D,D,D,T,D,T
chr8,70744582,70744582,G,A,P411907_S,SLCO5A1,Silent,NM_001146008,exon1,c.C327T,p.S109S,SNP,SNVindel,exonic,SLCO5A1,NA,synonymous SNV,"SLCO5A1:NM_001146008:exon1:c.C327T:p.S109S,SLCO5A1:NM_001146009:exon1:c.C327T:p.S109S,SLCO5A1:NM_030958:exon2:c.C327T:p.S109S",NA,NA,NA,NA,NA,NA
chr8,144990932,144990932,G,T,P411907_S,PLEC,Missense_Mutation,NM_201378,exon32,c.C13015A,p.Q4339K,SNP,SNVindel,exonic,PLEC,NA,nonsynonymous SNV,"PLEC:NM_201378:exon32:c.C13015A:p.Q4339K,PLEC:NM_201379:exon32:c.C12991A:p.Q4331K,PLEC:NM_201380:exon32:c.C13468A:p.Q4490K,PLEC:NM_201381:exon32:c.C12961A:p.Q4321K,PLEC:NM_201382:exon32:c.C13057A:p.Q4353K,PLEC:NM_201383:exon32:c.C13069A:p.Q4357K,PLEC:NM_201384:exon32:c.C13057A:p.Q4353K,PLEC:NM_000445:exon33:c.C13138A:p.Q4380K",D,U,D,T,N,D
chr9,33026964,33026964,G,C,P411907_S,DNAJA1,Missense_Mutation,NM_001539,exon3,c.G286C,p.G96R,SNP,SNVindel,exonic,DNAJA1,NA,nonsynonymous SNV,DNAJA1:NM_001539:exon3:c.G286C:p.G96R,T,D,D,T,D,T
chr9,37887993,37887993,G,T,P411907_S,SLC25A51,Silent,NM_033412,exon3,c.C555A,p.L185L,SNP,SNVindel,exonic,SLC25A51,NA,synonymous SNV,SLC25A51:NM_033412:exon3:c.C555A:p.L185L,NA,NA,NA,NA,NA,NA
chr9,40774475,40774475,C,T,P411907_S,ZNF658,Missense_Mutation,NM_001317916,exon5,c.G800A,p.G267E,SNP,SNVindel,exonic,ZNF658,NA,nonsynonymous SNV,"ZNF658:NM_001317916:exon5:c.G800A:p.G267E,ZNF658:NM_033160:exon5:c.G800A:p.G267E",.,.,.,.,.,.
chr9,86518854,86518854,T,C,P411907_S,KIF27,Silent,NM_001271927,exon4,c.A579G,p.R193R,SNP,SNVindel,exonic,KIF27,NA,synonymous SNV,"KIF27:NM_001271927:exon4:c.A579G:p.R193R,KIF27:NM_001271928:exon4:c.A579G:p.R193R,KIF27:NM_017576:exon4:c.A579G:p.R193R,KIF27:NM_001354069:exon5:c.A579G:p.R193R",NA,NA,NA,NA,NA,NA
chr9,131469037,131469037,C,A,P411907_S,PKN3,Missense_Mutation,NM_001317926,exon4,c.C457A,p.Q153K,SNP,SNVindel,exonic,PKN3,NA,nonsynonymous SNV,"PKN3:NM_001317926:exon4:c.C457A:p.Q153K,PKN3:NM_013355:exon4:c.C457A:p.Q153K",T,.,N,T,N,T
chr9,135862072,135862072,C,T,P411907_S,GFI1B,Missense_Mutation,NM_001135031,exon2,c.C7T,p.R3C,SNP,SNVindel,exonic,GFI1B,NA,nonsynonymous SNV,"GFI1B:NM_001135031:exon2:c.C7T:p.R3C,GFI1B:NM_004188:exon6:c.C7T:p.R3C",D,D,D,T,D,T
chr10,64416211,64416211,T,C,P411907_S,ZNF365,Silent,NM_199452,exon5,c.T447C,p.N149N,SNP,SNVindel,exonic,ZNF365,NA,synonymous SNV,"ZNF365:NM_199452:exon5:c.T447C:p.N149N,ZNF365:NM_199451:exon6:c.T1185C:p.N395N",NA,NA,NA,NA,NA,NA
chr10,75579358,75579358,C,A,P411907_S,CAMK2G,Nonsense_Mutation,NM_001367535,exon17,c.G1171T,p.G391X,SNP,SNVindel,exonic,CAMK2G,NA,stopgain,CAMK2G:NM_001367535:exon17:c.G1171T:p.G391X,T,U,D,T,N,T
chr10,76857518,76857518,G,T,P411907_S,DUSP13,Missense_Mutation,NM_001007272,exon2,c.C275A,p.T92K,SNP,SNVindel,exonic,DUSP13,NA,nonsynonymous SNV,"DUSP13:NM_001007272:exon2:c.C275A:p.T92K,DUSP13:NM_001363514:exon2:c.C533A:p.T178K,DUSP13:NM_016364:exon2:c.C125A:p.T42K,DUSP13:NM_001320843:exon3:c.C125A:p.T42K,DUSP13:NM_001007273:exon4:c.C404A:p.T135K,DUSP13:NM_001320842:exon5:c.C404A:p.T135K",T,N,N,T,N,T
chr10,83635667,83635667,G,T,P411907_S,NRG3,Missense_Mutation,NM_001010848,exon1,c.G571T,p.A191S,SNP,SNVindel,exonic,NRG3,NA,nonsynonymous SNV,"NRG3:NM_001010848:exon1:c.G571T:p.A191S,NRG3:NM_001165972:exon1:c.G571T:p.A191S,NRG3:NM_001370081:exon1:c.G571T:p.A191S,NRG3:NM_001370083:exon1:c.G571T:p.A191S,NRG3:NM_001370084:exon1:c.G571T:p.A191S",T,N,N,T,N,T
chr10,105957771,105957771,C,A,P411907_S,CFAP43,Missense_Mutation,NM_025145,exon9,c.G1121T,p.G374V,SNP,SNVindel,exonic,CFAP43,NA,nonsynonymous SNV,CFAP43:NM_025145:exon9:c.G1121T:p.G374V,T,N,N,T,N,T
chr11,533875,533875,G,T,P411907_S,HRAS,Missense_Mutation,NM_001130442,exon3,c.C181A,p.Q61K,SNP,SNVindel,exonic,HRAS,NA,nonsynonymous SNV,"HRAS:NM_001130442:exon3:c.C181A:p.Q61K,HRAS:NM_005343:exon3:c.C181A:p.Q61K,HRAS:NM_176795:exon3:c.C181A:p.Q61K",D,D,D,D,D,D
chr11,4623403,4623403,C,A,P411907_S,TRIM68,Missense_Mutation,NM_001304496,exon3,c.G93T,p.R31S,SNP,SNVindel,exonic,TRIM68,NA,nonsynonymous SNV,"TRIM68:NM_001304496:exon3:c.G93T:p.R31S,TRIM68:NM_018073:exon4:c.G762T:p.R254S",T,N,N,T,N,T
chr11,4661407,4661407,G,T,P411907_S,OR51D1,Silent,NM_001004751,exon1,c.G387T,p.L129L,SNP,SNVindel,exonic,OR51D1,NA,synonymous SNV,OR51D1:NM_001004751:exon1:c.G387T:p.L129L,NA,NA,NA,NA,NA,NA
chr11,57569265,57569265,G,T,P411907_S,CTNND1,Missense_Mutation,NM_001085469,exon4,c.G714T,p.L238F,SNP,SNVindel,exonic,CTNND1,NA,nonsynonymous SNV,"CTNND1:NM_001085469:exon4:c.G714T:p.L238F,CTNND1:NM_001085463:exon5:c.G714T:p.L238F,CTNND1:NM_001085464:exon5:c.G714T:p.L238F,CTNND1:NM_001085465:exon5:c.G714T:p.L238F,CTNND1:NM_001085466:exon5:c.G714T:p.L238F,CTNND1:NM_001085467:exon5:c.G714T:p.L238F,CTNND1:NM_001085468:exon5:c.G714T:p.L238F,CTNND1:NM_001206890:exon5:c.G714T:p.L238F,CTNND1:NM_001085462:exon6:c.G1017T:p.L339F,CTNND1:NM_001206883:exon6:c.G855T:p.L285F,CTNND1:NM_001206884:exon6:c.G855T:p.L285F,CTNND1:NM_001206886:exon6:c.G855T:p.L285F,CTNND1:NM_001206887:exon6:c.G855T:p.L285F,CTNND1:NM_001206888:exon6:c.G855T:p.L285F,CTNND1:NM_001085458:exon7:c.G1017T:p.L339F,CTNND1:NM_001085459:exon7:c.G1017T:p.L339F,CTNND1:NM_001085460:exon7:c.G1017T:p.L339F,CTNND1:NM_001085461:exon7:c.G1017T:p.L339F,CTNND1:NM_001206885:exon7:c.G1017T:p.L339F,CTNND1:NM_001206889:exon7:c.G855T:p.L285F,CTNND1:NM_001206891:exon7:c.G855T:p.L285F,CTNND1:NM_001331:exon7:c.G1017T:p.L339F",D,N,D,T,N,T
chr11,62494117,62494117,G,T,P411907_S,HNRNPUL2,Missense_Mutation,NM_001079559,exon1,c.C512A,p.P171Q,SNP,SNVindel,exonic,HNRNPUL2,NA,nonsynonymous SNV,HNRNPUL2:NM_001079559:exon1:c.C512A:p.P171Q,D,N,D,D,N,T
chr11,63141470,63141470,C,T,P411907_S,SLC22A9,Nonsense_Mutation,NM_080866,exon4,c.C766T,p.R256X,SNP,SNVindel,exonic,SLC22A9,NA,stopgain,SLC22A9:NM_080866:exon4:c.C766T:p.R256X,.,D,A,.,.,.
chr11,85345344,85345344,G,A,P411907_S,TMEM126B,Missense_Mutation,NM_001350394,exon3,c.G418A,p.V140I,SNP,SNVindel,exonic,TMEM126B,NA,nonsynonymous SNV,"TMEM126B:NM_001350394:exon3:c.G418A:p.V140I,TMEM126B:NM_001350395:exon4:c.G358A:p.V120I,TMEM126B:NM_001350396:exon4:c.G328A:p.V110I",NA,NA,NA,NA,NA,NA
chr11,124670073,124670073,C,A,P411907_S,MSANTD2,Silent,NM_001308027,exon1,c.G204T,p.L68L,SNP,SNVindel,exonic,MSANTD2,NA,synonymous SNV,"MSANTD2:NM_001308027:exon1:c.G204T:p.L68L,MSANTD2:NM_001312919:exon1:c.G204T:p.L68L,MSANTD2:NM_024631:exon1:c.G204T:p.L68L",NA,NA,NA,NA,NA,NA
chr12,32458693,32458693,C,A,P411907_S,BICD1,Missense_Mutation,NM_001003398,exon4,c.C642A,p.N214K,SNP,SNVindel,exonic,BICD1,NA,nonsynonymous SNV,"BICD1:NM_001003398:exon4:c.C642A:p.N214K,BICD1:NM_001354186:exon4:c.C642A:p.N214K,BICD1:NM_001354187:exon4:c.C642A:p.N214K,BICD1:NM_001354188:exon4:c.C642A:p.N214K,BICD1:NM_001354189:exon4:c.C642A:p.N214K,BICD1:NM_001363603:exon4:c.C642A:p.N214K,BICD1:NM_001714:exon4:c.C642A:p.N214K",D,N,D,T,D,T
chr12,43856737,43856737,G,A,P411907_S,ADAMTS20,Silent,NM_025003,exon11,c.C1575T,p.H525H,SNP,SNVindel,exonic,ADAMTS20,NA,synonymous SNV,ADAMTS20:NM_025003:exon11:c.C1575T:p.H525H,NA,NA,NA,NA,NA,NA
chr12,58223372,58223372,G,A,P411907_S,CTDSP2,Silent,NM_005730,exon2,c.C72T,p.V24V,SNP,SNVindel,exonic,CTDSP2,NA,synonymous SNV,CTDSP2:NM_005730:exon2:c.C72T:p.V24V,NA,NA,NA,NA,NA,NA
chr12,93881286,93881286,C,A,P411907_S,MRPL42,Missense_Mutation,NM_014050,exon5,c.C233A,p.P78Q,SNP,SNVindel,exonic,MRPL42,NA,nonsynonymous SNV,"MRPL42:NM_014050:exon5:c.C233A:p.P78Q,MRPL42:NM_172177:exon5:c.C233A:p.P78Q",T,D,D,.,D,T
chr12,96389647,96389647,T,A,P411907_S,HAL,Silent,NM_001258334,exon2,c.A42T,p.A14A,SNP,SNVindel,exonic,HAL,NA,synonymous SNV,"HAL:NM_001258334:exon2:c.A42T:p.A14A,HAL:NM_002108:exon2:c.A42T:p.A14A",NA,NA,NA,NA,NA,NA
chr12,102468144,102468144,C,T,P411907_S,NUP37,Silent,NM_024057,exon10,c.G969A,p.V323V,SNP,SNVindel,exonic,NUP37,NA,synonymous SNV,NUP37:NM_024057:exon10:c.G969A:p.V323V,NA,NA,NA,NA,NA,NA
chr13,113761200,113761200,C,T,P411907_S,F7,Missense_Mutation,NM_000131,exon2,c.C106T,p.P36S,SNP,SNVindel,exonic,F7,NA,nonsynonymous SNV,F7:NM_000131:exon2:c.C106T:p.P36S,T,.,N,D,N,T
chr15,48718061,48718061,T,A,P411907_S,FBN1,Missense_Mutation,NM_000138,exon59,c.A7205T,p.D2402V,SNP,SNVindel,exonic,FBN1,NA,nonsynonymous SNV,FBN1:NM_000138:exon59:c.A7205T:p.D2402V,D,D,D,D,D,D
chr16,14355278,14355278,G,C,P411907_S,MRTFB,Missense_Mutation,NM_001365411,exon15,c.G3244C,p.D1082H,SNP,SNVindel,exonic,MRTFB,NA,nonsynonymous SNV,"MRTFB:NM_001365411:exon15:c.G3244C:p.D1082H,MRTFB:NM_001365413:exon15:c.G3064C:p.D1022H,MRTFB:NM_001365414:exon15:c.G2914C:p.D972H,MRTFB:NM_001308142:exon17:c.G3277C:p.D1093H,MRTFB:NM_001365412:exon17:c.G3139C:p.D1047H,MRTFB:NM_014048:exon17:c.G3127C:p.D1043H",D,D,D,.,D,D
chr16,19049298,19049298,C,G,P411907_S,TMC7,Missense_Mutation,NM_001324268,exon7,c.C82G,p.L28V,SNP,SNVindel,exonic,TMC7,NA,nonsynonymous SNV,"TMC7:NM_001324268:exon7:c.C82G:p.L28V,TMC7:NM_001160364:exon8:c.C778G:p.L260V,TMC7:NM_001300732:exon8:c.C1108G:p.L370V,TMC7:NM_001324263:exon8:c.C82G:p.L28V,TMC7:NM_001324265:exon8:c.C1108G:p.L370V,TMC7:NM_024847:exon8:c.C1108G:p.L370V",T,N,N,T,N,T
chr16,29394349,29394349,C,G,P411907_S,NPIPB11,Missense_Mutation,NM_001310137,exon8,c.G1904C,p.R635P,SNP,SNVindel,exonic,NPIPB11,NA,nonsynonymous SNV,NPIPB11:NM_001310137:exon8:c.G1904C:p.R635P,T,.,N,T,N,T
chr16,29848101,29848101,G,C,P411907_S,MVP,Missense_Mutation,NM_001293204,exon6,c.G731C,p.R244P,SNP,SNVindel,exonic,MVP,NA,nonsynonymous SNV,"MVP:NM_001293204:exon6:c.G731C:p.R244P,MVP:NM_001293205:exon6:c.G731C:p.R244P,MVP:NM_005115:exon7:c.G731C:p.R244P,MVP:NM_017458:exon7:c.G731C:p.R244P",D,D,D,T,D,T
chr16,30021367,30021367,C,A,P411907_S,DOC2A,Silent,NM_001282068,exon2,c.G177T,p.L59L,SNP,SNVindel,exonic,DOC2A,NA,synonymous SNV,"DOC2A:NM_001282068:exon2:c.G177T:p.L59L,DOC2A:NM_003586:exon2:c.G177T:p.L59L,DOC2A:NM_001282062:exon3:c.G177T:p.L59L,DOC2A:NM_001282063:exon3:c.G177T:p.L59L",NA,NA,NA,NA,NA,NA
chr16,89775291,89775291,C,T,P411907_S,VPS9D1,Silent,NM_004913,exon13,c.G1671A,p.G557G,SNP,SNVindel,exonic,VPS9D1,NA,synonymous SNV,VPS9D1:NM_004913:exon13:c.G1671A:p.G557G,NA,NA,NA,NA,NA,NA
chr17,3324383,3324383,G,A,P411907_S,OR3A3,Silent,NM_012373,exon1,c.G522A,p.T174T,SNP,SNVindel,exonic,OR3A3,NA,synonymous SNV,OR3A3:NM_012373:exon1:c.G522A:p.T174T,NA,NA,NA,NA,NA,NA
chr17,6945491,6945491,C,G,P411907_S,SLC16A11,Missense_Mutation,NM_153357,exon3,c.G938C,p.S313T,SNP,SNVindel,exonic,SLC16A11,NA,nonsynonymous SNV,"SLC16A11:NM_153357:exon3:c.G938C:p.S313T,SLC16A11:NM_001370549:exon4:c.G938C:p.S313T,SLC16A11:NM_001370553:exon4:c.G938C:p.S313T",T,N,N,T,N,T
chr17,7577114,7577114,C,T,P411907_S,TP53,Missense_Mutation,NM_001126115,exon4,c.G428A,p.C143Y,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon4:c.G428A:p.C143Y,TP53:NM_001126116:exon4:c.G428A:p.C143Y,TP53:NM_001126117:exon4:c.G428A:p.C143Y,TP53:NM_001276697:exon4:c.G347A:p.C116Y,TP53:NM_001276698:exon4:c.G347A:p.C116Y,TP53:NM_001276699:exon4:c.G347A:p.C116Y,TP53:NM_001126118:exon7:c.G707A:p.C236Y,TP53:NM_000546:exon8:c.G824A:p.C275Y,TP53:NM_001126112:exon8:c.G824A:p.C275Y,TP53:NM_001126113:exon8:c.G824A:p.C275Y,TP53:NM_001126114:exon8:c.G824A:p.C275Y,TP53:NM_001276695:exon8:c.G707A:p.C236Y,TP53:NM_001276696:exon8:c.G707A:p.C236Y,TP53:NM_001276760:exon8:c.G707A:p.C236Y,TP53:NM_001276761:exon8:c.G707A:p.C236Y",D,D,D,D,D,D
chr17,7578263,7578263,G,A,P411907_S,TP53,Nonsense_Mutation,NM_001126115,exon2,c.C190T,p.R64X,SNP,SNVindel,exonic,TP53,NA,stopgain,"TP53:NM_001126115:exon2:c.C190T:p.R64X,TP53:NM_001126116:exon2:c.C190T:p.R64X,TP53:NM_001126117:exon2:c.C190T:p.R64X,TP53:NM_001276697:exon2:c.C109T:p.R37X,TP53:NM_001276698:exon2:c.C109T:p.R37X,TP53:NM_001276699:exon2:c.C109T:p.R37X,TP53:NM_001126118:exon5:c.C469T:p.R157X,TP53:NM_000546:exon6:c.C586T:p.R196X,TP53:NM_001126112:exon6:c.C586T:p.R196X,TP53:NM_001126113:exon6:c.C586T:p.R196X,TP53:NM_001126114:exon6:c.C586T:p.R196X,TP53:NM_001276695:exon6:c.C469T:p.R157X,TP53:NM_001276696:exon6:c.C469T:p.R157X,TP53:NM_001276760:exon6:c.C469T:p.R157X,TP53:NM_001276761:exon6:c.C469T:p.R157X",.,D,A,.,.,.
chr17,7919270,7919270,C,A,P411907_S,GUCY2D,Missense_Mutation,NM_000180,exon17,c.C3069A,p.S1023R,SNP,SNVindel,exonic,GUCY2D,NA,nonsynonymous SNV,GUCY2D:NM_000180:exon17:c.C3069A:p.S1023R,D,D,D,T,D,T
chr17,10222331,10222331,C,A,P411907_S,MYH13,Nonsense_Mutation,NM_003802,exon27,c.G3514T,p.E1172X,SNP,SNVindel,exonic,MYH13,NA,stopgain,MYH13:NM_003802:exon27:c.G3514T:p.E1172X,.,.,A,.,.,.
chr17,37566270,37566270,G,A,P411907_S,MED1,Missense_Mutation,NM_004774,exon17,c.C2204T,p.T735M,SNP,SNVindel,exonic,MED1,NA,nonsynonymous SNV,MED1:NM_004774:exon17:c.C2204T:p.T735M,D,.,D,T,N,T
chr17,40716817,40716817,G,A,P411907_S,COASY,Missense_Mutation,NM_025233,exon4,c.G1138A,p.G380S,SNP,SNVindel,exonic,COASY,NA,nonsynonymous SNV,"COASY:NM_025233:exon4:c.G1138A:p.G380S,COASY:NM_001042529:exon5:c.G1138A:p.G380S,COASY:NM_001042532:exon6:c.G1225A:p.G409S",T,N,N,T,N,T
chr18,14535001,14535001,G,C,P411907_S,POTEC,Silent,NM_001137671,exon4,c.C816G,p.G272G,SNP,SNVindel,exonic,POTEC,NA,synonymous SNV,POTEC:NM_001137671:exon4:c.C816G:p.G272G,NA,NA,NA,NA,NA,NA
chr18,47806323,47806323,C,A,P411907_S,MBD1,Missense_Mutation,NM_001204136,exon2,c.G40T,p.G14C,SNP,SNVindel,exonic,MBD1,NA,nonsynonymous SNV,"MBD1:NM_001204136:exon2:c.G40T:p.G14C,MBD1:NM_001204137:exon2:c.G40T:p.G14C,MBD1:NM_001204138:exon2:c.G40T:p.G14C,MBD1:NM_001204139:exon2:c.G40T:p.G14C,MBD1:NM_001204140:exon2:c.G40T:p.G14C,MBD1:NM_001204141:exon2:c.G40T:p.G14C,MBD1:NM_001204142:exon2:c.G40T:p.G14C,MBD1:NM_001204143:exon2:c.G40T:p.G14C,MBD1:NM_001204151:exon2:c.G40T:p.G14C,MBD1:NM_001323942:exon2:c.G40T:p.G14C,MBD1:NM_001323947:exon2:c.G40T:p.G14C,MBD1:NM_001323950:exon2:c.G40T:p.G14C,MBD1:NM_001323951:exon2:c.G40T:p.G14C,MBD1:NM_001323952:exon2:c.G40T:p.G14C,MBD1:NM_001323954:exon2:c.G40T:p.G14C,MBD1:NM_002384:exon2:c.G40T:p.G14C,MBD1:NM_015844:exon2:c.G40T:p.G14C,MBD1:NM_015845:exon2:c.G40T:p.G14C,MBD1:NM_015846:exon2:c.G40T:p.G14C,MBD1:NM_015847:exon2:c.G40T:p.G14C",D,D,D,D,D,D
chr18,61324581,61324581,C,T,P411907_S,SERPINB3,Missense_Mutation,NM_006919,exon6,c.G535A,p.A179T,SNP,SNVindel,exonic,SERPINB3,NA,nonsynonymous SNV,SERPINB3:NM_006919:exon6:c.G535A:p.A179T,T,N,D,D,D,D
chr18,74980789,74980789,C,G,P411907_S,GALR1,Missense_Mutation,NM_001480,exon3,c.C981G,p.H327Q,SNP,SNVindel,exonic,GALR1,NA,nonsynonymous SNV,GALR1:NM_001480:exon3:c.C981G:p.H327Q,T,N,N,T,N,T
chr19,7809903,7809903,C,T,P411907_S,CD209,Missense_Mutation,NM_001144893,exon3,c.G416A,p.R139Q,SNP,SNVindel,exonic,CD209,NA,nonsynonymous SNV,"CD209:NM_001144893:exon3:c.G416A:p.R139Q,CD209:NM_001144894:exon3:c.G692A:p.R231Q,CD209:NM_001144896:exon4:c.G752A:p.R251Q,CD209:NM_001144895:exon5:c.G548A:p.R183Q,CD209:NM_001144897:exon5:c.G824A:p.R275Q,CD209:NM_001144899:exon5:c.G341A:p.R114Q,CD209:NM_021155:exon5:c.G824A:p.R275Q",T,.,N,T,D,T
chr19,8807832,8807832,C,G,P411907_S,ACTL9,Missense_Mutation,NM_178525,exon1,c.G1220C,p.G407A,SNP,SNVindel,exonic,ACTL9,NA,nonsynonymous SNV,ACTL9:NM_178525:exon1:c.G1220C:p.G407A,D,U,D,T,D,D
chr19,9028260,9028260,G,T,P411907_S,MUC16,Missense_Mutation,NM_024690,exon11,c.C36532A,p.P12178T,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon11:c.C36532A:p.P12178T,T,.,N,T,N,T
chr19,22363307,22363307,T,C,P411907_S,ZNF676,Silent,NM_001001411,exon3,c.A1212G,p.S404S,SNP,SNVindel,exonic,ZNF676,NA,synonymous SNV,ZNF676:NM_001001411:exon3:c.A1212G:p.S404S,NA,NA,NA,NA,NA,NA
chr19,43433623,43433623,C,T,P411907_S,PSG7,Missense_Mutation,NM_001206650,exon2,c.G314A,p.R105H,SNP,SNVindel,exonic,PSG7,NA,nonsynonymous SNV,"PSG7:NM_001206650:exon2:c.G314A:p.R105H,PSG7:NM_001290042:exon3:c.G137A:p.R46H",.,.,.,.,.,.
chr20,30072137,30072137,C,T,P411907_S,REM1,Silent,NM_014012,exon5,c.C801T,p.R267R,SNP,SNVindel,exonic,REM1,NA,synonymous SNV,REM1:NM_014012:exon5:c.C801T:p.R267R,NA,NA,NA,NA,NA,NA
chr21,34954264,34954264,T,C,P411907_S,DONSON,Missense_Mutation,NM_017613,exon7,c.A1144G,p.I382V,SNP,SNVindel,exonic,DONSON,NA,nonsynonymous SNV,DONSON:NM_017613:exon7:c.A1144G:p.I382V,T,N,N,.,N,T
chr21,43803198,43803198,G,A,P411907_S,TMPRSS3,Silent,NM_032404,exon5,c.C345T,p.C115C,SNP,SNVindel,exonic,TMPRSS3,NA,synonymous SNV,"TMPRSS3:NM_032404:exon5:c.C345T:p.C115C,TMPRSS3:NM_001256317:exon8:c.C726T:p.C242C,TMPRSS3:NM_024022:exon8:c.C726T:p.C242C,TMPRSS3:NM_032405:exon8:c.C726T:p.C242C",NA,NA,NA,NA,NA,NA
chrX,27479742,27479742,G,A,P411907_S,PPP4R3C,Missense_Mutation,NM_207319,exon1,c.C1672T,p.L558F,SNP,SNVindel,exonic,PPP4R3C,NA,nonsynonymous SNV,PPP4R3C:NM_207319:exon1:c.C1672T:p.L558F,NA,NA,NA,NA,NA,NA
chrX,27997806,27997806,C,T,P411907_S,DCAF8L1,Missense_Mutation,NM_001017930,exon1,c.G1646A,p.R549Q,SNP,SNVindel,exonic,DCAF8L1,NA,nonsynonymous SNV,DCAF8L1:NM_001017930:exon1:c.G1646A:p.R549Q,T,N,N,T,N,T
chrX,57146307,57146307,G,A,P411907_S,SPIN2B,Silent,NM_001006681,exon2,c.C756T,p.Y252Y,SNP,SNVindel,exonic,SPIN2B,NA,synonymous SNV,"SPIN2B:NM_001006681:exon2:c.C756T:p.Y252Y,SPIN2B:NM_001006682:exon2:c.C756T:p.Y252Y,SPIN2B:NM_001006683:exon2:c.C756T:p.Y252Y,SPIN2B:NM_001282461:exon3:c.C453T:p.Y151Y,SPIN2B:NM_001282462:exon3:c.C453T:p.Y151Y",NA,NA,NA,NA,NA,NA
chrX,70472442,70472442,G,T,P411907_S,ZMYM3,Missense_Mutation,NM_001171162,exon2,c.C664A,p.P222T,SNP,SNVindel,exonic,ZMYM3,NA,nonsynonymous SNV,"ZMYM3:NM_001171162:exon2:c.C664A:p.P222T,ZMYM3:NM_001171163:exon2:c.C664A:p.P222T,ZMYM3:NM_005096:exon2:c.C664A:p.P222T,ZMYM3:NM_201599:exon2:c.C664A:p.P222T",D,N,D,T,N,T
chrX,102864442,102864442,A,G,P411907_S,TCEAL3,Silent,NM_001006933,exon3,c.A450G,p.Q150Q,SNP,SNVindel,exonic,TCEAL3,NA,synonymous SNV,"TCEAL3:NM_001006933:exon3:c.A450G:p.Q150Q,TCEAL3:NM_032926:exon3:c.A450G:p.Q150Q",NA,NA,NA,NA,NA,NA
chr1,10706352,10706352,C,T,P432157_F,CASZ1,Missense_Mutation,NM_001079843,exon17,c.G3529A,p.A1177T,SNP,SNVindel,exonic,CASZ1,NA,nonsynonymous SNV,CASZ1:NM_001079843:exon17:c.G3529A:p.A1177T,T,U,N,.,N,T
chr1,111965583,111965583,C,T,P432157_F,OVGP1,Missense_Mutation,NM_002557,exon6,c.G574A,p.V192I,SNP,SNVindel,exonic,OVGP1,NA,nonsynonymous SNV,OVGP1:NM_002557:exon6:c.G574A:p.V192I,T,N,N,T,N,T
chr1,144615237,144615237,T,G,P432157_F,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,152188297,152188297,G,A,P432157_F,HRNR,Silent,NM_001009931,exon3,c.C5808T,p.H1936H,SNP,SNVindel,exonic,HRNR,NA,synonymous SNV,HRNR:NM_001009931:exon3:c.C5808T:p.H1936H,NA,NA,NA,NA,NA,NA
chr1,156106996,156106996,T,C,P432157_F,LMNA,Silent,NM_001257374,exon9,c.T1245C,p.R415R,SNP,SNVindel,exonic,LMNA,NA,synonymous SNV,"LMNA:NM_001257374:exon9:c.T1245C:p.R415R,LMNA:NM_001282626:exon9:c.T1581C:p.R527R,LMNA:NM_005572:exon9:c.T1581C:p.R527R,LMNA:NM_170707:exon9:c.T1581C:p.R527R,LMNA:NM_170708:exon9:c.T1581C:p.R527R,LMNA:NM_001282624:exon10:c.T1338C:p.R446R,LMNA:NM_001282625:exon12:c.T1581C:p.R527R",NA,NA,NA,NA,NA,NA
chr1,186648244,186648244,C,T,P432157_F,PTGS2,Missense_Mutation,NM_000963,exon3,c.G259A,p.V87I,SNP,SNVindel,exonic,PTGS2,NA,nonsynonymous SNV,PTGS2:NM_000963:exon3:c.G259A:p.V87I,T,N,N,T,N,T
chr2,133486429,133486429,A,C,P432157_F,NCKAP5,Missense_Mutation,NM_207481,exon16,c.T1583G,p.L528R,SNP,SNVindel,exonic,NCKAP5,NA,nonsynonymous SNV,"NCKAP5:NM_207481:exon16:c.T1583G:p.L528R,NCKAP5:NM_207363:exon18:c.T5540G:p.L1847R",D,U,N,T,N,T
chr2,138378239,138378239,T,A,P432157_F,THSD7B,Missense_Mutation,NM_001316349,exon20,c.T3742A,p.C1248S,SNP,SNVindel,exonic,THSD7B,NA,nonsynonymous SNV,THSD7B:NM_001316349:exon20:c.T3742A:p.C1248S,D,D,D,T,D,T
chr3,49939837,49939837,C,A,P432157_F,MST1R,Missense_Mutation,NM_001244937,exon1,c.G1206T,p.Q402H,SNP,SNVindel,exonic,MST1R,NA,nonsynonymous SNV,"MST1R:NM_001244937:exon1:c.G1206T:p.Q402H,MST1R:NM_001318913:exon1:c.G1206T:p.Q402H,MST1R:NM_002447:exon1:c.G1206T:p.Q402H",D,D,D,T,D,T
chr3,111768773,111768773,C,T,P432157_F,TMPRSS7,Missense_Mutation,NM_001042575,exon6,c.C664T,p.R222W,SNP,SNVindel,exonic,TMPRSS7,NA,nonsynonymous SNV,"TMPRSS7:NM_001042575:exon6:c.C664T:p.R222W,TMPRSS7:NM_001366279:exon6:c.C631T:p.R211W",D,N,N,T,N,T
chr3,195506627,195506627,T,G,P432157_F,MUC4,Missense_Mutation,NM_018406,exon2,c.A11824C,p.T3942P,SNP,SNVindel,exonic,MUC4,NA,nonsynonymous SNV,MUC4:NM_018406:exon2:c.A11824C:p.T3942P,T,.,D,T,N,T
chr4,55598083,55598083,C,T,P432157_F,KIT,Silent,NM_000222,exon16,c.C2280T,p.D760D,SNP,SNVindel,exonic,KIT,NA,synonymous SNV,"KIT:NM_000222:exon16:c.C2280T:p.D760D,KIT:NM_001093772:exon16:c.C2268T:p.D756D",NA,NA,NA,NA,NA,NA
chr5,1323921,1323921,G,T,P432157_F,CLPTM1L,Missense_Mutation,NM_030782,exon12,c.C1261A,p.L421M,SNP,SNVindel,exonic,CLPTM1L,NA,nonsynonymous SNV,CLPTM1L:NM_030782:exon12:c.C1261A:p.L421M,D,D,D,T,N,T
chr5,115329488,115329488,C,T,P432157_F,LVRN,Silent,NM_173800,exon6,c.C1311T,p.N437N,SNP,SNVindel,exonic,LVRN,NA,synonymous SNV,LVRN:NM_173800:exon6:c.C1311T:p.N437N,NA,NA,NA,NA,NA,NA
chr5,156920061,156920061,C,T,P432157_F,ADAM19,Missense_Mutation,NM_033274,exon16,c.G1828A,p.V610I,SNP,SNVindel,exonic,ADAM19,NA,nonsynonymous SNV,ADAM19:NM_033274:exon16:c.G1828A:p.V610I,T,D,D,T,N,T
chr5,168149293,168149293,G,A,P432157_F,SLIT3,Silent,NM_001271946,exon23,c.C2451T,p.H817H,SNP,SNVindel,exonic,SLIT3,NA,synonymous SNV,"SLIT3:NM_001271946:exon23:c.C2451T:p.H817H,SLIT3:NM_003062:exon23:c.C2451T:p.H817H",NA,NA,NA,NA,NA,NA
chr5,176519324,176519324,C,T,P432157_F,FGFR4,Missense_Mutation,NM_022963,exon6,c.C730T,p.R244W,SNP,SNVindel,exonic,FGFR4,NA,nonsynonymous SNV,"FGFR4:NM_022963:exon6:c.C730T:p.R244W,FGFR4:NM_001291980:exon7:c.C730T:p.R244W,FGFR4:NM_001354984:exon7:c.C730T:p.R244W,FGFR4:NM_002011:exon7:c.C730T:p.R244W,FGFR4:NM_213647:exon7:c.C730T:p.R244W",D,D,D,T,D,D
chr6,13321115,13321115,G,C,P432157_F,TBC1D7,Missense_Mutation,NM_001318806,exon3,c.C325G,p.L109V,SNP,SNVindel,exonic,TBC1D7,NA,nonsynonymous SNV,TBC1D7:NM_001318806:exon3:c.C325G:p.L109V,.,.,N,.,.,.
chr6,21595925,21595925,C,T,P432157_F,SOX4,Missense_Mutation,NM_003107,exon1,c.C1160T,p.S387F,SNP,SNVindel,exonic,SOX4,NA,nonsynonymous SNV,SOX4:NM_003107:exon1:c.C1160T:p.S387F,D,U,D,D,D,D
chr6,49819804,49819804,G,A,P432157_F,CRISP1,Silent,NM_001131,exon3,c.C105T,p.T35T,SNP,SNVindel,exonic,CRISP1,NA,synonymous SNV,"CRISP1:NM_001131:exon3:c.C105T:p.T35T,CRISP1:NM_001205220:exon3:c.C105T:p.T35T,CRISP1:NM_170609:exon3:c.C105T:p.T35T",NA,NA,NA,NA,NA,NA
chr7,7484106,7484106,T,C,P432157_F,COL28A1,Silent,NM_001037763,exon19,c.A1524G,p.S508S,SNP,SNVindel,exonic,COL28A1,NA,synonymous SNV,COL28A1:NM_001037763:exon19:c.A1524G:p.S508S,NA,NA,NA,NA,NA,NA
chr7,63538877,63538877,A,T,P432157_F,ZNF727,Missense_Mutation,NM_001159522,exon4,c.A1450T,p.N484Y,SNP,SNVindel,exonic,ZNF727,NA,nonsynonymous SNV,ZNF727:NM_001159522:exon4:c.A1450T:p.N484Y,.,.,N,.,.,T
chr7,100646790,100646790,C,T,P432157_F,MUC12,Missense_Mutation,NM_001164462,exon2,c.C12946T,p.P4316S,SNP,SNVindel,exonic,MUC12,NA,nonsynonymous SNV,MUC12:NM_001164462:exon2:c.C12946T:p.P4316S,D,.,N,T,D,T
chr7,143771898,143771898,G,T,P432157_F,OR2A25,Missense_Mutation,NM_001004488,exon1,c.G586T,p.V196L,SNP,SNVindel,exonic,OR2A25,NA,nonsynonymous SNV,OR2A25:NM_001004488:exon1:c.G586T:p.V196L,T,.,N,T,N,T
chr8,20110933,20110933,G,A,P432157_F,LZTS1,Missense_Mutation,NM_001362884,exon3,c.C509T,p.A170V,SNP,SNVindel,exonic,LZTS1,NA,nonsynonymous SNV,"LZTS1:NM_001362884:exon3:c.C509T:p.A170V,LZTS1:NM_021020:exon3:c.C509T:p.A170V",D,N,N,T,N,T
chr8,27779571,27779571,C,T,P432157_F,SCARA5,Missense_Mutation,NM_173833,exon4,c.G433A,p.A145T,SNP,SNVindel,exonic,SCARA5,NA,nonsynonymous SNV,SCARA5:NM_173833:exon4:c.G433A:p.A145T,T,N,N,D,N,T
chr9,127818282,127818282,C,A,P432157_F,SCAI,Nonsense_Mutation,NM_001144877,exon3,c.G103T,p.E35X,SNP,SNVindel,exonic,SCAI,NA,stopgain,"SCAI:NM_001144877:exon3:c.G103T:p.E35X,SCAI:NM_173690:exon4:c.G172T:p.E58X",.,D,A,.,.,.
chr9,139350534,139350534,G,A,P432157_F,SEC16A,Missense_Mutation,NM_001276418,exon18,c.C5635T,p.H1879Y,SNP,SNVindel,exonic,SEC16A,NA,nonsynonymous SNV,"SEC16A:NM_001276418:exon18:c.C5635T:p.H1879Y,SEC16A:NM_014866:exon19:c.C5635T:p.H1879Y",D,N,N,T,N,T
chr11,1270382,1270382,C,G,P432157_F,MUC5B,Missense_Mutation,NM_002458,exon31,c.C12272G,p.T4091R,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.C12272G:p.T4091R,D,.,N,T,N,T
chr11,18195349,18195349,G,A,P432157_F,MRGPRX4,Silent,NM_054032,exon1,c.G546A,p.A182A,SNP,SNVindel,exonic,MRGPRX4,NA,synonymous SNV,MRGPRX4:NM_054032:exon1:c.G546A:p.A182A,NA,NA,NA,NA,NA,NA
chr11,55136143,55136143,C,T,P432157_F,OR4A15,Nonsense_Mutation,NM_001005275,exon1,c.C784T,p.R262X,SNP,SNVindel,exonic,OR4A15,NA,stopgain,OR4A15:NM_001005275:exon1:c.C784T:p.R262X,.,N,D,.,.,.
chr11,76062520,76062520,T,A,P432157_F,THAP12,Missense_Mutation,NM_004705,exon5,c.A1674T,p.R558S,SNP,SNVindel,exonic,THAP12,NA,nonsynonymous SNV,THAP12:NM_004705:exon5:c.A1674T:p.R558S,D,D,D,.,N,T
chr14,104497462,104497462,C,T,P432157_F,TDRD9,Silent,NM_153046,exon29,c.C3300T,p.L1100L,SNP,SNVindel,exonic,TDRD9,NA,synonymous SNV,TDRD9:NM_153046:exon29:c.C3300T:p.L1100L,NA,NA,NA,NA,NA,NA
chr16,15833914,15833914,T,C,P432157_F,MYH11,Silent,NM_002474,exon23,c.A2991G,p.L997L,SNP,SNVindel,exonic,MYH11,NA,synonymous SNV,"MYH11:NM_002474:exon23:c.A2991G:p.L997L,MYH11:NM_022844:exon23:c.A2991G:p.L997L,MYH11:NM_001040113:exon24:c.A3012G:p.L1004L,MYH11:NM_001040114:exon24:c.A3012G:p.L1004L",NA,NA,NA,NA,NA,NA
chr17,33680037,33680037,C,T,P432157_F,SLFN11,Missense_Mutation,NM_152270,exon5,c.G2044A,p.G682R,SNP,SNVindel,exonic,SLFN11,NA,nonsynonymous SNV,"SLFN11:NM_152270:exon5:c.G2044A:p.G682R,SLFN11:NM_001104589:exon6:c.G2044A:p.G682R,SLFN11:NM_001104587:exon7:c.G2044A:p.G682R,SLFN11:NM_001104588:exon7:c.G2044A:p.G682R,SLFN11:NM_001104590:exon7:c.G2044A:p.G682R",T,N,N,T,N,T
chr17,36061014,36061014,G,A,P432157_F,HNF1B,Missense_Mutation,NM_000458,exon7,c.C1508T,p.A503V,SNP,SNVindel,exonic,HNF1B,NA,nonsynonymous SNV,"HNF1B:NM_000458:exon7:c.C1508T:p.A503V,HNF1B:NM_001165923:exon7:c.C1430T:p.A477V",.,D,D,.,.,D
chr19,1877337,1877337,C,T,P432157_F,ABHD17A,Silent,NM_001130111,exon5,c.G795A,p.A265A,SNP,SNVindel,exonic,ABHD17A,NA,synonymous SNV,"ABHD17A:NM_001130111:exon5:c.G795A:p.A265A,ABHD17A:NM_031213:exon6:c.G948A:p.A316A",NA,NA,NA,NA,NA,NA
chr19,22498930,22498930,C,G,P432157_F,ZNF729,Missense_Mutation,NM_001242680,exon4,c.C2711G,p.A904G,SNP,SNVindel,exonic,ZNF729,NA,nonsynonymous SNV,ZNF729:NM_001242680:exon4:c.C2711G:p.A904G,.,.,.,T,.,.
chr19,31040082,31040082,G,A,P432157_F,ZNF536,Missense_Mutation,NM_001352260,exon4,c.G3556A,p.E1186K,SNP,SNVindel,exonic,ZNF536,NA,nonsynonymous SNV,"ZNF536:NM_001352260:exon4:c.G3556A:p.E1186K,ZNF536:NM_014717:exon4:c.G3556A:p.E1186K",D,N,D,T,N,T
chrX,37027049,37027049,G,A,P432157_F,FAM47C,Missense_Mutation,NM_001013736,exon1,c.G566A,p.R189Q,SNP,SNVindel,exonic,FAM47C,NA,nonsynonymous SNV,FAM47C:NM_001013736:exon1:c.G566A:p.R189Q,T,.,N,T,N,T
chrX,69572471,69572471,G,T,P432157_F,KIF4A,Missense_Mutation,NM_012310,exon14,c.G1453T,p.A485S,SNP,SNVindel,exonic,KIF4A,NA,nonsynonymous SNV,KIF4A:NM_012310:exon14:c.G1453T:p.A485S,T,N,N,T,N,T
chrX,79698671,79698671,C,T,P432157_F,TENT5D,Silent,NM_152630,exon3,c.C633T,p.F211F,SNP,SNVindel,exonic,TENT5D,NA,synonymous SNV,"TENT5D:NM_152630:exon3:c.C633T:p.F211F,TENT5D:NM_001170574:exon5:c.C633T:p.F211F",NA,NA,NA,NA,NA,NA
chrX,152159260,152159260,G,A,P432157_F,PNMA5,Missense_Mutation,NM_001103150,exon2,c.C883T,p.R295W,SNP,SNVindel,exonic,PNMA5,NA,nonsynonymous SNV,"PNMA5:NM_001103150:exon2:c.C883T:p.R295W,PNMA5:NM_052926:exon2:c.C883T:p.R295W,PNMA5:NM_001103151:exon3:c.C883T:p.R295W,PNMA5:NM_001184924:exon4:c.C883T:p.R295W",D,.,N,T,D,T
chr1,2529662,2529662,C,T,P432157_S,MMEL1,Missense_Mutation,NM_033467,exon13,c.G1256A,p.R419Q,SNP,SNVindel,exonic,MMEL1,NA,nonsynonymous SNV,MMEL1:NM_033467:exon13:c.G1256A:p.R419Q,D,D,D,T,D,T
chr1,10706352,10706352,C,T,P432157_S,CASZ1,Missense_Mutation,NM_001079843,exon17,c.G3529A,p.A1177T,SNP,SNVindel,exonic,CASZ1,NA,nonsynonymous SNV,CASZ1:NM_001079843:exon17:c.G3529A:p.A1177T,T,U,N,.,N,T
chr1,11710791,11710791,C,G,P432157_S,FBXO2,Silent,NM_012168,exon2,c.G123C,p.A41A,SNP,SNVindel,exonic,FBXO2,NA,synonymous SNV,FBXO2:NM_012168:exon2:c.G123C:p.A41A,NA,NA,NA,NA,NA,NA
chr1,144621504,144621504,T,G,P432157_S,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,156106996,156106996,T,C,P432157_S,LMNA,Silent,NM_001257374,exon9,c.T1245C,p.R415R,SNP,SNVindel,exonic,LMNA,NA,synonymous SNV,"LMNA:NM_001257374:exon9:c.T1245C:p.R415R,LMNA:NM_001282626:exon9:c.T1581C:p.R527R,LMNA:NM_005572:exon9:c.T1581C:p.R527R,LMNA:NM_170707:exon9:c.T1581C:p.R527R,LMNA:NM_170708:exon9:c.T1581C:p.R527R,LMNA:NM_001282624:exon10:c.T1338C:p.R446R,LMNA:NM_001282625:exon12:c.T1581C:p.R527R",NA,NA,NA,NA,NA,NA
chr1,186648244,186648244,C,T,P432157_S,PTGS2,Missense_Mutation,NM_000963,exon3,c.G259A,p.V87I,SNP,SNVindel,exonic,PTGS2,NA,nonsynonymous SNV,PTGS2:NM_000963:exon3:c.G259A:p.V87I,T,N,N,T,N,T
chr3,49939837,49939837,C,A,P432157_S,MST1R,Missense_Mutation,NM_001244937,exon1,c.G1206T,p.Q402H,SNP,SNVindel,exonic,MST1R,NA,nonsynonymous SNV,"MST1R:NM_001244937:exon1:c.G1206T:p.Q402H,MST1R:NM_001318913:exon1:c.G1206T:p.Q402H,MST1R:NM_002447:exon1:c.G1206T:p.Q402H",D,D,D,T,D,T
chr5,1323921,1323921,G,T,P432157_S,CLPTM1L,Missense_Mutation,NM_030782,exon12,c.C1261A,p.L421M,SNP,SNVindel,exonic,CLPTM1L,NA,nonsynonymous SNV,CLPTM1L:NM_030782:exon12:c.C1261A:p.L421M,D,D,D,T,N,T
chr5,140563616,140563616,G,A,P432157_S,PCDHB16,Silent,NM_020957,exon1,c.G1482A,p.Q494Q,SNP,SNVindel,exonic,PCDHB16,NA,synonymous SNV,PCDHB16:NM_020957:exon1:c.G1482A:p.Q494Q,NA,NA,NA,NA,NA,NA
chr6,21595925,21595925,C,T,P432157_S,SOX4,Missense_Mutation,NM_003107,exon1,c.C1160T,p.S387F,SNP,SNVindel,exonic,SOX4,NA,nonsynonymous SNV,SOX4:NM_003107:exon1:c.C1160T:p.S387F,D,U,D,D,D,D
chr7,55268916,55268916,C,T,P432157_S,EGFR,Silent,NM_001346941,exon19,c.C2181T,p.D727D,SNP,SNVindel,exonic,EGFR,NA,synonymous SNV,"EGFR:NM_001346941:exon19:c.C2181T:p.D727D,EGFR:NM_001346897:exon24:c.C2847T:p.D949D,EGFR:NM_001346899:exon24:c.C2847T:p.D949D,EGFR:NM_001346898:exon25:c.C2982T:p.D994D,EGFR:NM_001346900:exon25:c.C2823T:p.D941D,EGFR:NM_005228:exon25:c.C2982T:p.D994D",NA,NA,NA,NA,NA,NA
chr7,63538877,63538877,A,T,P432157_S,ZNF727,Missense_Mutation,NM_001159522,exon4,c.A1450T,p.N484Y,SNP,SNVindel,exonic,ZNF727,NA,nonsynonymous SNV,ZNF727:NM_001159522:exon4:c.A1450T:p.N484Y,.,.,N,.,.,T
chr7,72413243,72413243,A,C,P432157_S,POM121,Missense_Mutation,NM_172020,exon12,c.A1916C,p.H639P,SNP,SNVindel,exonic,POM121,NA,nonsynonymous SNV,"POM121:NM_172020:exon12:c.A1916C:p.H639P,POM121:NM_001257190:exon14:c.A1916C:p.H639P,POM121:NM_001367610:exon14:c.A1739C:p.H580P",T,N,P,T,N,T
chr8,20110933,20110933,G,A,P432157_S,LZTS1,Missense_Mutation,NM_001362884,exon3,c.C509T,p.A170V,SNP,SNVindel,exonic,LZTS1,NA,nonsynonymous SNV,"LZTS1:NM_001362884:exon3:c.C509T:p.A170V,LZTS1:NM_021020:exon3:c.C509T:p.A170V",D,N,N,T,N,T
chr9,101767303,101767303,G,A,P432157_S,COL15A1,Missense_Mutation,NM_001855,exon9,c.G1324A,p.A442T,SNP,SNVindel,exonic,COL15A1,NA,nonsynonymous SNV,COL15A1:NM_001855:exon9:c.G1324A:p.A442T,T,N,N,D,N,T
chr11,18195349,18195349,G,A,P432157_S,MRGPRX4,Silent,NM_054032,exon1,c.G546A,p.A182A,SNP,SNVindel,exonic,MRGPRX4,NA,synonymous SNV,MRGPRX4:NM_054032:exon1:c.G546A:p.A182A,NA,NA,NA,NA,NA,NA
chr17,62856450,62856450,A,G,P432157_S,LRRC37A3,Missense_Mutation,NM_001303255,exon8,c.T1168C,p.W390R,SNP,SNVindel,exonic,LRRC37A3,NA,nonsynonymous SNV,"LRRC37A3:NM_001303255:exon8:c.T1168C:p.W390R,LRRC37A3:NM_199340:exon12:c.T3814C:p.W1272R",T,.,N,T,N,T
chr19,31040082,31040082,G,A,P432157_S,ZNF536,Missense_Mutation,NM_001352260,exon4,c.G3556A,p.E1186K,SNP,SNVindel,exonic,ZNF536,NA,nonsynonymous SNV,"ZNF536:NM_001352260:exon4:c.G3556A:p.E1186K,ZNF536:NM_014717:exon4:c.G3556A:p.E1186K",D,N,D,T,N,T
chr22,21065645,21065645,A,G,P432157_S,PI4KA,Silent,NM_001362862,exon50,c.T5814C,p.G1938G,SNP,SNVindel,exonic,PI4KA,NA,synonymous SNV,"PI4KA:NM_001362862:exon50:c.T5814C:p.G1938G,PI4KA:NM_001362863:exon50:c.T5841C:p.G1947G,PI4KA:NM_058004:exon51:c.T5907C:p.G1969G",NA,NA,NA,NA,NA,NA
chrX,79698671,79698671,C,T,P432157_S,TENT5D,Silent,NM_152630,exon3,c.C633T,p.F211F,SNP,SNVindel,exonic,TENT5D,NA,synonymous SNV,"TENT5D:NM_152630:exon3:c.C633T:p.F211F,TENT5D:NM_001170574:exon5:c.C633T:p.F211F",NA,NA,NA,NA,NA,NA
chr1,11116810,11116810,A,C,R001_F,SRM,Missense_Mutation,NM_003132,exon4,c.T386G,p.V129G,SNP,SNVindel,exonic,SRM,NA,nonsynonymous SNV,SRM:NM_003132:exon4:c.T386G:p.V129G,D,D,D,D,D,D
chr1,20975643,20975643,T,G,R001_F,PINK1,Silent,NM_032409,exon7,c.T1407G,p.A469A,SNP,SNVindel,exonic,PINK1,NA,synonymous SNV,PINK1:NM_032409:exon7:c.T1407G:p.A469A,NA,NA,NA,NA,NA,NA
chr1,45809090,45809090,A,G,R001_F,TOE1,Missense_Mutation,NM_025077,exon8,c.A1249G,p.R417G,SNP,SNVindel,exonic,TOE1,NA,nonsynonymous SNV,TOE1:NM_025077:exon8:c.A1249G:p.R417G,T,N,N,T,N,T
chr1,55518390,55518390,C,T,R001_F,PCSK9,Missense_Mutation,NM_174936,exon5,c.C725T,p.A242V,SNP,SNVindel,exonic,PCSK9,NA,nonsynonymous SNV,PCSK9:NM_174936:exon5:c.C725T:p.A242V,D,D,D,D,D,D
chr1,71478002,71478002,G,A,R001_F,PTGER3,Nonsense_Mutation,NM_001126044,exon2,c.C1063T,p.R355X,SNP,SNVindel,exonic,PTGER3,NA,stopgain,"PTGER3:NM_001126044:exon2:c.C1063T:p.R355X,PTGER3:NM_198714:exon2:c.C1063T:p.R355X,PTGER3:NM_198715:exon2:c.C1063T:p.R355X,PTGER3:NM_198716:exon2:c.C1063T:p.R355X,PTGER3:NM_198717:exon2:c.C1063T:p.R355X,PTGER3:NM_198718:exon2:c.C1063T:p.R355X,PTGER3:NM_198719:exon2:c.C1063T:p.R355X",.,N,A,.,.,.
chr1,157804350,157804350,T,C,R001_F,CD5L,Missense_Mutation,NM_001347698,exon4,c.A565G,p.K189E,SNP,SNVindel,exonic,CD5L,NA,nonsynonymous SNV,"CD5L:NM_001347698:exon4:c.A565G:p.K189E,CD5L:NM_005894:exon4:c.A565G:p.K189E",T,N,N,T,N,T
chr1,183177041,183177041,G,T,R001_F,LAMC2,Missense_Mutation,NM_005562,exon2,c.G105T,p.R35S,SNP,SNVindel,exonic,LAMC2,NA,nonsynonymous SNV,"LAMC2:NM_005562:exon2:c.G105T:p.R35S,LAMC2:NM_018891:exon2:c.G105T:p.R35S",T,N,D,T,N,T
chr1,214816472,214816472,C,T,R001_F,CENPF,Silent,NM_016343,exon12,c.C4791T,p.C1597C,SNP,SNVindel,exonic,CENPF,NA,synonymous SNV,CENPF:NM_016343:exon12:c.C4791T:p.C1597C,NA,NA,NA,NA,NA,NA
chr2,21233721,21233721,C,T,R001_F,APOB,Missense_Mutation,NM_000384,exon26,c.G6019A,p.V2007M,SNP,SNVindel,exonic,APOB,NA,nonsynonymous SNV,APOB:NM_000384:exon26:c.G6019A:p.V2007M,T,N,N,T,N,T
chr2,27308672,27308672,G,C,R001_F,EMILIN1,Missense_Mutation,NM_007046,exon8,c.G2840C,p.G947A,SNP,SNVindel,exonic,EMILIN1,NA,nonsynonymous SNV,EMILIN1:NM_007046:exon8:c.G2840C:p.G947A,D,D,D,T,D,T
chr2,125192087,125192087,C,T,R001_F,CNTNAP5,Nonsense_Mutation,NM_001367498,exon5,c.C556T,p.R186X,SNP,SNVindel,exonic,CNTNAP5,NA,stopgain,"CNTNAP5:NM_001367498:exon5:c.C556T:p.R186X,CNTNAP5:NM_130773:exon5:c.C556T:p.R186X",.,N,A,.,.,.
chr2,153515697,153515697,C,A,R001_F,PRPF40A,Missense_Mutation,NM_001365598,exon22,c.G2500T,p.D834Y,SNP,SNVindel,exonic,PRPF40A,NA,nonsynonymous SNV,"PRPF40A:NM_001365598:exon22:c.G2500T:p.D834Y,PRPF40A:NM_001365599:exon22:c.G2488T:p.D830Y,PRPF40A:NM_001365601:exon22:c.G2374T:p.D792Y,PRPF40A:NM_001354431:exon23:c.G2362T:p.D788Y,PRPF40A:NM_001365596:exon23:c.G2554T:p.D852Y,PRPF40A:NM_001365597:exon23:c.G2542T:p.D848Y,PRPF40A:NM_001365600:exon23:c.G2428T:p.D810Y,PRPF40A:NM_001365604:exon23:c.G2194T:p.D732Y,PRPF40A:NM_001365605:exon23:c.G2194T:p.D732Y,PRPF40A:NM_017892:exon23:c.G2416T:p.D806Y,PRPF40A:NM_001365602:exon24:c.G2260T:p.D754Y,PRPF40A:NM_001365603:exon24:c.G2248T:p.D750Y,PRPF40A:NM_001354432:exon25:c.G2212T:p.D738Y",D,D,D,T,D,T
chr2,210874399,210874399,C,A,R001_F,RPE,Silent,NM_001278285,exon2,c.C141A,p.I47I,SNP,SNVindel,exonic,RPE,NA,synonymous SNV,"RPE:NM_001278285:exon2:c.C141A:p.I47I,RPE:NM_001278289:exon2:c.C141A:p.I47I,RPE:NM_001318926:exon2:c.C141A:p.I47I,RPE:NM_001318927:exon2:c.C141A:p.I47I,RPE:NM_001318928:exon2:c.C141A:p.I47I,RPE:NM_001318929:exon2:c.C141A:p.I47I,RPE:NM_199229:exon2:c.C141A:p.I47I",NA,NA,NA,NA,NA,NA
chr3,27758698,27758698,G,A,R001_F,EOMES,Nonsense_Mutation,NM_001278182,exon6,c.C1981T,p.R661X,SNP,SNVindel,exonic,EOMES,NA,stopgain,"EOMES:NM_001278182:exon6:c.C1981T:p.R661X,EOMES:NM_001278183:exon6:c.C1096T:p.R366X,EOMES:NM_005442:exon6:c.C1924T:p.R642X",.,N,D,.,.,.
chr3,38347521,38347521,G,A,R001_F,SLC22A14,Missense_Mutation,NM_004803,exon1,c.G4A,p.A2T,SNP,SNVindel,exonic,SLC22A14,NA,nonsynonymous SNV,"SLC22A14:NM_004803:exon1:c.G4A:p.A2T,SLC22A14:NM_001320033:exon2:c.G4A:p.A2T",T,N,N,T,N,T
chr3,151475211,151475211,T,G,R001_F,AADACL2,Missense_Mutation,NM_207365,exon5,c.T1035G,p.D345E,SNP,SNVindel,exonic,AADACL2,NA,nonsynonymous SNV,AADACL2:NM_207365:exon5:c.T1035G:p.D345E,D,D,D,T,D,T
chr3,178917478,178917478,G,A,R001_F,PIK3CA,Missense_Mutation,NM_006218,exon3,c.G353A,p.G118D,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon3:c.G353A:p.G118D,D,D,D,T,D,T
chr4,1161416,1161416,G,A,R001_F,SPON2,Silent,NM_012445,exon6,c.C840T,p.V280V,SNP,SNVindel,exonic,SPON2,NA,synonymous SNV,"SPON2:NM_012445:exon6:c.C840T:p.V280V,SPON2:NM_001128325:exon7:c.C840T:p.V280V,SPON2:NM_001199021:exon8:c.C840T:p.V280V",NA,NA,NA,NA,NA,NA
chr4,111470756,111470756,G,A,R001_F,ENPEP,Silent,NM_001977,exon16,c.G2298A,p.S766S,SNP,SNVindel,exonic,ENPEP,NA,synonymous SNV,ENPEP:NM_001977:exon16:c.G2298A:p.S766S,NA,NA,NA,NA,NA,NA
chr5,140559034,140559034,C,T,R001_F,PCDHB8,Silent,NM_019120,exon1,c.C1419T,p.S473S,SNP,SNVindel,exonic,PCDHB8,NA,synonymous SNV,PCDHB8:NM_019120:exon1:c.C1419T:p.S473S,NA,NA,NA,NA,NA,NA
chr5,167988433,167988433,T,A,R001_F,PANK3,Missense_Mutation,NM_024594,exon5,c.A901T,p.I301F,SNP,SNVindel,exonic,PANK3,NA,nonsynonymous SNV,PANK3:NM_024594:exon5:c.A901T:p.I301F,D,D,D,D,D,D
chr6,49583388,49583388,C,A,R001_F,RHAG,Missense_Mutation,NM_000324,exon4,c.G589T,p.G197W,SNP,SNVindel,exonic,RHAG,NA,nonsynonymous SNV,RHAG:NM_000324:exon4:c.G589T:p.G197W,D,N,N,T,D,T
chr6,114179013,114179013,C,A,R001_F,MARCKS,Missense_Mutation,NM_002356,exon1,c.C92A,p.A31E,SNP,SNVindel,exonic,MARCKS,NA,nonsynonymous SNV,MARCKS:NM_002356:exon1:c.C92A:p.A31E,.,N,D,.,.,T
chr6,124676442,124676442,G,A,R001_F,NKAIN2,Silent,NM_001040214,exon3,c.G222A,p.T74T,SNP,SNVindel,exonic,NKAIN2,NA,synonymous SNV,"NKAIN2:NM_001040214:exon3:c.G222A:p.T74T,NKAIN2:NM_153355:exon3:c.G222A:p.T74T,NKAIN2:NM_001300737:exon4:c.G219A:p.T73T",NA,NA,NA,NA,NA,NA
chr7,48311445,48311445,G,A,R001_F,ABCA13,Missense_Mutation,NM_152701,exon17,c.G2182A,p.E728K,SNP,SNVindel,exonic,ABCA13,NA,nonsynonymous SNV,ABCA13:NM_152701:exon17:c.G2182A:p.E728K,T,N,N,D,N,T
chr7,50136124,50136124,G,T,R001_F,SPATA48,Missense_Mutation,NM_001161834,exon1,c.G443T,p.G148V,SNP,SNVindel,exonic,SPATA48,NA,nonsynonymous SNV,SPATA48:NM_001161834:exon1:c.G443T:p.G148V,D,.,N,.,D,T
chr7,100679970,100679970,C,T,R001_F,MUC17,Missense_Mutation,NM_001040105,exon3,c.C5273T,p.T1758I,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.C5273T:p.T1758I,D,.,N,T,N,T
chr7,103004687,103004687,C,G,R001_F,PSMC2,Missense_Mutation,NM_002803,exon8,c.C689G,p.A230G,SNP,SNVindel,exonic,PSMC2,NA,nonsynonymous SNV,PSMC2:NM_002803:exon8:c.C689G:p.A230G,D,D,D,D,D,D
chr8,19700384,19700384,T,C,R001_F,INTS10,Silent,NM_001353516,exon13,c.T981C,p.C327C,SNP,SNVindel,exonic,INTS10,NA,synonymous SNV,"INTS10:NM_001353516:exon13:c.T981C:p.C327C,INTS10:NM_001353517:exon13:c.T978C:p.C326C,INTS10:NM_001353518:exon13:c.T978C:p.C326C,INTS10:NM_001353519:exon13:c.T978C:p.C326C,INTS10:NM_001353520:exon13:c.T915C:p.C305C,INTS10:NM_001353521:exon13:c.T978C:p.C326C,INTS10:NM_001353522:exon13:c.T978C:p.C326C,INTS10:NM_001353505:exon14:c.T1668C:p.C556C,INTS10:NM_001353506:exon14:c.T1665C:p.C555C,INTS10:NM_001353507:exon14:c.T1665C:p.C555C,INTS10:NM_001353508:exon14:c.T1662C:p.C554C,INTS10:NM_001353509:exon14:c.T1602C:p.C534C,INTS10:NM_001353510:exon14:c.T1668C:p.C556C,INTS10:NM_001353511:exon14:c.T1530C:p.C510C,INTS10:NM_001353512:exon14:c.T1530C:p.C510C,INTS10:NM_001353513:exon14:c.T1329C:p.C443C,INTS10:NM_001353514:exon14:c.T1326C:p.C442C,INTS10:NM_001353515:exon14:c.T1326C:p.C442C,INTS10:NM_018142:exon14:c.T1665C:p.C555C",NA,NA,NA,NA,NA,NA
chr8,49642355,49642355,C,T,R001_F,EFCAB1,Missense_Mutation,NM_001142857,exon3,c.G239A,p.S80N,SNP,SNVindel,exonic,EFCAB1,NA,nonsynonymous SNV,"EFCAB1:NM_001142857:exon3:c.G239A:p.S80N,EFCAB1:NM_001363973:exon3:c.G239A:p.S80N,EFCAB1:NM_001363974:exon3:c.G239A:p.S80N,EFCAB1:NM_024593:exon4:c.G395A:p.S132N",D,D,D,T,N,T
chr8,70964419,70964419,G,A,R001_F,PRDM14,Missense_Mutation,NM_024504,exon8,c.C1609T,p.R537W,SNP,SNVindel,exonic,PRDM14,NA,nonsynonymous SNV,PRDM14:NM_024504:exon8:c.C1609T:p.R537W,D,D,D,T,D,T
chr8,144940711,144940711,G,A,R001_F,EPPK1,Silent,NM_031308,exon2,c.C6711T,p.P2237P,SNP,SNVindel,exonic,EPPK1,NA,synonymous SNV,EPPK1:NM_031308:exon2:c.C6711T:p.P2237P,NA,NA,NA,NA,NA,NA
chr8,146076122,146076122,C,T,R001_F,COMMD5,Missense_Mutation,NM_001081003,exon2,c.G602A,p.R201Q,SNP,SNVindel,exonic,COMMD5,NA,nonsynonymous SNV,"COMMD5:NM_001081003:exon2:c.G602A:p.R201Q,COMMD5:NM_001081004:exon2:c.G602A:p.R201Q,COMMD5:NM_001287237:exon2:c.G602A:p.R201Q,COMMD5:NM_014066:exon2:c.G602A:p.R201Q",D,D,D,T,D,T
chr9,140174200,140174200,G,A,R001_F,TOR4A,Silent,NM_017723,exon2,c.G1059A,p.P353P,SNP,SNVindel,exonic,TOR4A,NA,synonymous SNV,TOR4A:NM_017723:exon2:c.G1059A:p.P353P,NA,NA,NA,NA,NA,NA
chr10,27703023,27703023,A,T,R001_F,PTCHD3,Missense_Mutation,NM_001034842,exon1,c.T157A,p.S53T,SNP,SNVindel,exonic,PTCHD3,NA,nonsynonymous SNV,PTCHD3:NM_001034842:exon1:c.T157A:p.S53T,T,.,N,D,N,T
chr10,122263428,122263428,G,A,R001_F,PLPP4,Missense_Mutation,NM_001030059,exon2,c.G155A,p.R52H,SNP,SNVindel,exonic,PLPP4,NA,nonsynonymous SNV,"PLPP4:NM_001030059:exon2:c.G155A:p.R52H,PLPP4:NM_001318166:exon2:c.G155A:p.R52H,PLPP4:NM_001318167:exon2:c.G155A:p.R52H,PLPP4:NM_001318168:exon2:c.G155A:p.R52H,PLPP4:NM_001318169:exon2:c.G155A:p.R52H",D,D,D,T,N,T
chr11,209598,209598,C,T,R001_F,RIC8A,Silent,NM_001286134,exon3,c.C324T,p.S108S,SNP,SNVindel,exonic,RIC8A,NA,synonymous SNV,"RIC8A:NM_001286134:exon3:c.C324T:p.S108S,RIC8A:NM_021932:exon3:c.C324T:p.S108S",NA,NA,NA,NA,NA,NA
chr11,2436497,2436497,C,T,R001_F,TRPM5,Missense_Mutation,NM_014555,exon9,c.G1333A,p.G445S,SNP,SNVindel,exonic,TRPM5,NA,nonsynonymous SNV,TRPM5:NM_014555:exon9:c.G1333A:p.G445S,T,.,N,T,N,T
chr11,56468225,56468225,G,A,R001_F,OR9G1,Missense_Mutation,NM_001005213,exon1,c.G362A,p.R121H,SNP,SNVindel,exonic,OR9G1;OR9G9,NA,nonsynonymous SNV,"OR9G1:NM_001005213:exon1:c.G362A:p.R121H,OR9G9:NM_001013358:exon1:c.G362A:p.R121H",D,D,D,T,D,T
chr12,52790016,52790016,G,A,R001_F,KRT82,Missense_Mutation,NM_033033,exon7,c.C1069T,p.R357C,SNP,SNVindel,exonic,KRT82,NA,nonsynonymous SNV,KRT82:NM_033033:exon7:c.C1069T:p.R357C,T,D,D,D,N,T
chr13,103382135,103382135,C,T,R001_F,CCDC168,Missense_Mutation,NM_001146197,exon4,c.G20912A,p.R6971H,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.G20912A:p.R6971H,.,N,N,.,.,T
chr14,21993420,21993420,C,T,R001_F,SALL2,Missense_Mutation,NM_001364564,exon2,c.G436A,p.G146R,SNP,SNVindel,exonic,SALL2,NA,nonsynonymous SNV,"SALL2:NM_001364564:exon2:c.G436A:p.G146R,SALL2:NM_005407:exon2:c.G442A:p.G148R",D,N,D,T,N,T
chr15,41605509,41605509,C,A,R001_F,OIP5,Missense_Mutation,NM_001317860,exon3,c.G433T,p.D145Y,SNP,SNVindel,exonic,OIP5,NA,nonsynonymous SNV,"OIP5:NM_001317860:exon3:c.G433T:p.D145Y,OIP5:NM_007280:exon4:c.G556T:p.D186Y",D,N,D,.,D,T
chr15,45390213,45390213,C,T,R001_F,DUOX2,Missense_Mutation,NM_001363711,exon27,c.G3559A,p.V1187I,SNP,SNVindel,exonic,DUOX2,NA,nonsynonymous SNV,"DUOX2:NM_001363711:exon27:c.G3559A:p.V1187I,DUOX2:NM_014080:exon27:c.G3559A:p.V1187I",T,N,D,D,N,T
chr16,633606,633606,G,A,R001_F,PIGQ,Missense_Mutation,NM_148920,exon10,c.G2255A,p.R752Q,SNP,SNVindel,exonic,PIGQ,NA,nonsynonymous SNV,PIGQ:NM_148920:exon10:c.G2255A:p.R752Q,D,.,N,T,N,T
chr16,31498945,31498945,C,T,R001_F,SLC5A2,Silent,NM_003041,exon7,c.C750T,p.N250N,SNP,SNVindel,exonic,SLC5A2,NA,synonymous SNV,SLC5A2:NM_003041:exon7:c.C750T:p.N250N,NA,NA,NA,NA,NA,NA
chr16,81303976,81303976,G,A,R001_F,BCO1,Silent,NM_017429,exon7,c.G1056A,p.S352S,SNP,SNVindel,exonic,BCO1,NA,synonymous SNV,BCO1:NM_017429:exon7:c.G1056A:p.S352S,NA,NA,NA,NA,NA,NA
chr17,7576853,7576853,C,G,R001_F,TP53,Missense_Mutation,NM_001126115,exon5,c.G597C,p.Q199H,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon5:c.G597C:p.Q199H,TP53:NM_001126116:exon5:c.G597C:p.Q199H,TP53:NM_001126117:exon5:c.G597C:p.Q199H,TP53:NM_001276697:exon5:c.G516C:p.Q172H,TP53:NM_001276698:exon5:c.G516C:p.Q172H,TP53:NM_001276699:exon5:c.G516C:p.Q172H,TP53:NM_001126118:exon8:c.G876C:p.Q292H,TP53:NM_000546:exon9:c.G993C:p.Q331H,TP53:NM_001126112:exon9:c.G993C:p.Q331H,TP53:NM_001126113:exon9:c.G993C:p.Q331H,TP53:NM_001126114:exon9:c.G993C:p.Q331H,TP53:NM_001276695:exon9:c.G876C:p.Q292H,TP53:NM_001276696:exon9:c.G876C:p.Q292H,TP53:NM_001276760:exon9:c.G876C:p.Q292H,TP53:NM_001276761:exon9:c.G876C:p.Q292H",D,N,D,D,N,T
chr17,34883492,34883492,A,C,R001_F,MYO19,Missense_Mutation,NM_001033580,exon6,c.T190G,p.F64V,SNP,SNVindel,exonic,MYO19,NA,nonsynonymous SNV,"MYO19:NM_001033580:exon6:c.T190G:p.F64V,MYO19:NM_001163735:exon6:c.T190G:p.F64V,MYO19:NM_025109:exon6:c.T190G:p.F64V",.,D,D,.,.,D
chr17,39240900,39240900,T,G,R001_F,KRTAP4-7,Missense_Mutation,NM_033061,exon1,c.T442G,p.L148V,SNP,SNVindel,exonic,KRTAP4-7,NA,nonsynonymous SNV,KRTAP4-7:NM_033061:exon1:c.T442G:p.L148V,T,.,N,T,N,T
chr17,43332816,43332816,C,G,R001_F,SPATA32,Missense_Mutation,NM_152343,exon4,c.G733C,p.A245P,SNP,SNVindel,exonic,SPATA32,NA,nonsynonymous SNV,SPATA32:NM_152343:exon4:c.G733C:p.A245P,D,N,N,T,D,T
chr17,43332858,43332858,C,G,R001_F,SPATA32,Missense_Mutation,NM_152343,exon4,c.G691C,p.D231H,SNP,SNVindel,exonic,SPATA32,NA,nonsynonymous SNV,SPATA32:NM_152343:exon4:c.G691C:p.D231H,T,N,N,T,N,T
chr17,48559764,48559764,G,C,R001_F,RSAD1,Missense_Mutation,NM_018346,exon4,c.G787C,p.V263L,SNP,SNVindel,exonic,RSAD1,NA,nonsynonymous SNV,RSAD1:NM_018346:exon4:c.G787C:p.V263L,T,N,N,T,N,T
chr18,13884689,13884689,C,T,R001_F,MC2R,Missense_Mutation,NM_000529,exon2,c.G829A,p.A277T,SNP,SNVindel,exonic,MC2R,NA,nonsynonymous SNV,"MC2R:NM_000529:exon2:c.G829A:p.A277T,MC2R:NM_001291911:exon2:c.G829A:p.A277T",D,D,D,T,D,T
chr18,21511049,21511049,G,A,R001_F,LAMA3,Silent,NM_001127718,exon27,c.G3465A,p.L1155L,SNP,SNVindel,exonic,LAMA3,NA,synonymous SNV,"LAMA3:NM_001127718:exon27:c.G3465A:p.L1155L,LAMA3:NM_000227:exon28:c.G3633A:p.L1211L,LAMA3:NM_001127717:exon64:c.G8292A:p.L2764L,LAMA3:NM_198129:exon65:c.G8460A:p.L2820L",NA,NA,NA,NA,NA,NA
chr18,24128006,24128006,C,A,R001_F,KCTD1,Silent,NM_001142730,exon1,c.G495T,p.R165R,SNP,SNVindel,exonic,KCTD1,NA,synonymous SNV,KCTD1:NM_001142730:exon1:c.G495T:p.R165R,NA,NA,NA,NA,NA,NA
chr18,64239255,64239255,T,C,R001_F,CDH19,Missense_Mutation,NM_001271028,exon2,c.A187G,p.I63V,SNP,SNVindel,exonic,CDH19,NA,nonsynonymous SNV,"CDH19:NM_001271028:exon2:c.A187G:p.I63V,CDH19:NM_021153:exon2:c.A187G:p.I63V",T,N,N,T,N,T
chr19,10081927,10081927,G,A,R001_F,COL5A3,Missense_Mutation,NM_015719,exon52,c.C3782T,p.T1261M,SNP,SNVindel,exonic,COL5A3,NA,nonsynonymous SNV,COL5A3:NM_015719:exon52:c.C3782T:p.T1261M,D,N,N,D,N,T
chr19,34922804,34922804,T,C,R001_F,UBA2,Silent,NM_005499,exon3,c.T261C,p.A87A,SNP,SNVindel,exonic,UBA2,NA,synonymous SNV,UBA2:NM_005499:exon3:c.T261C:p.A87A,NA,NA,NA,NA,NA,NA
chr19,49131440,49131440,C,T,R001_F,SPHK2,Missense_Mutation,NM_001204160,exon5,c.C670T,p.R224C,SNP,SNVindel,exonic,SPHK2,NA,nonsynonymous SNV,"SPHK2:NM_001204160:exon5:c.C670T:p.R224C,SPHK2:NM_001243876:exon5:c.C160T:p.R54C,SPHK2:NM_001204158:exon6:c.C601T:p.R201C,SPHK2:NM_001204159:exon6:c.C778T:p.R260C,SPHK2:NM_020126:exon6:c.C778T:p.R260C",D,D,D,T,D,T
chr19,55106288,55106288,A,C,R001_F,LILRA1,Missense_Mutation,NM_001278319,exon3,c.A229C,p.I77L,SNP,SNVindel,exonic,LILRA1,NA,nonsynonymous SNV,"LILRA1:NM_001278319:exon3:c.A229C:p.I77L,LILRA1:NM_001278318:exon4:c.A229C:p.I77L,LILRA1:NM_006863:exon4:c.A229C:p.I77L",T,N,N,T,N,T
chr19,56953875,56953875,C,T,R001_F,ZNF667,Silent,NM_022103,exon5,c.G489A,p.Q163Q,SNP,SNVindel,exonic,ZNF667,NA,synonymous SNV,"ZNF667:NM_022103:exon5:c.G489A:p.Q163Q,ZNF667:NM_001321355:exon6:c.G318A:p.Q106Q,ZNF667:NM_001321356:exon7:c.G489A:p.Q163Q",NA,NA,NA,NA,NA,NA
chr20,3888644,3888644,A,T,R001_F,PANK2,Missense_Mutation,NM_001324192,exon2,c.A700T,p.T234S,SNP,SNVindel,exonic,PANK2,NA,nonsynonymous SNV,"PANK2:NM_001324192:exon2:c.A700T:p.T234S,PANK2:NM_153638:exon2:c.A700T:p.T234S",T,D,D,D,N,D
chr21,46911228,46911228,C,T,R001_F,COL18A1,Silent,NM_030582,exon21,c.C2697T,p.D899D,SNP,SNVindel,exonic,COL18A1,NA,synonymous SNV,"COL18A1:NM_030582:exon21:c.C2697T:p.D899D,COL18A1:NM_130444:exon21:c.C3402T:p.D1134D,COL18A1:NM_130445:exon22:c.C2157T:p.D719D",NA,NA,NA,NA,NA,NA
chr1,11116810,11116810,A,C,R001_S,SRM,Missense_Mutation,NM_003132,exon4,c.T386G,p.V129G,SNP,SNVindel,exonic,SRM,NA,nonsynonymous SNV,SRM:NM_003132:exon4:c.T386G:p.V129G,D,D,D,D,D,D
chr1,20975643,20975643,T,G,R001_S,PINK1,Silent,NM_032409,exon7,c.T1407G,p.A469A,SNP,SNVindel,exonic,PINK1,NA,synonymous SNV,PINK1:NM_032409:exon7:c.T1407G:p.A469A,NA,NA,NA,NA,NA,NA
chr1,45809090,45809090,A,G,R001_S,TOE1,Missense_Mutation,NM_025077,exon8,c.A1249G,p.R417G,SNP,SNVindel,exonic,TOE1,NA,nonsynonymous SNV,TOE1:NM_025077:exon8:c.A1249G:p.R417G,T,N,N,T,N,T
chr1,55518390,55518390,C,T,R001_S,PCSK9,Missense_Mutation,NM_174936,exon5,c.C725T,p.A242V,SNP,SNVindel,exonic,PCSK9,NA,nonsynonymous SNV,PCSK9:NM_174936:exon5:c.C725T:p.A242V,D,D,D,D,D,D
chr1,71478002,71478002,G,A,R001_S,PTGER3,Nonsense_Mutation,NM_001126044,exon2,c.C1063T,p.R355X,SNP,SNVindel,exonic,PTGER3,NA,stopgain,"PTGER3:NM_001126044:exon2:c.C1063T:p.R355X,PTGER3:NM_198714:exon2:c.C1063T:p.R355X,PTGER3:NM_198715:exon2:c.C1063T:p.R355X,PTGER3:NM_198716:exon2:c.C1063T:p.R355X,PTGER3:NM_198717:exon2:c.C1063T:p.R355X,PTGER3:NM_198718:exon2:c.C1063T:p.R355X,PTGER3:NM_198719:exon2:c.C1063T:p.R355X",.,N,A,.,.,.
chr1,157804350,157804350,T,C,R001_S,CD5L,Missense_Mutation,NM_001347698,exon4,c.A565G,p.K189E,SNP,SNVindel,exonic,CD5L,NA,nonsynonymous SNV,"CD5L:NM_001347698:exon4:c.A565G:p.K189E,CD5L:NM_005894:exon4:c.A565G:p.K189E",T,N,N,T,N,T
chr1,183177041,183177041,G,T,R001_S,LAMC2,Missense_Mutation,NM_005562,exon2,c.G105T,p.R35S,SNP,SNVindel,exonic,LAMC2,NA,nonsynonymous SNV,"LAMC2:NM_005562:exon2:c.G105T:p.R35S,LAMC2:NM_018891:exon2:c.G105T:p.R35S",T,N,D,T,N,T
chr1,214816472,214816472,C,T,R001_S,CENPF,Silent,NM_016343,exon12,c.C4791T,p.C1597C,SNP,SNVindel,exonic,CENPF,NA,synonymous SNV,CENPF:NM_016343:exon12:c.C4791T:p.C1597C,NA,NA,NA,NA,NA,NA
chr2,21233721,21233721,C,T,R001_S,APOB,Missense_Mutation,NM_000384,exon26,c.G6019A,p.V2007M,SNP,SNVindel,exonic,APOB,NA,nonsynonymous SNV,APOB:NM_000384:exon26:c.G6019A:p.V2007M,T,N,N,T,N,T
chr2,27308672,27308672,G,C,R001_S,EMILIN1,Missense_Mutation,NM_007046,exon8,c.G2840C,p.G947A,SNP,SNVindel,exonic,EMILIN1,NA,nonsynonymous SNV,EMILIN1:NM_007046:exon8:c.G2840C:p.G947A,D,D,D,T,D,T
chr2,125192087,125192087,C,T,R001_S,CNTNAP5,Nonsense_Mutation,NM_001367498,exon5,c.C556T,p.R186X,SNP,SNVindel,exonic,CNTNAP5,NA,stopgain,"CNTNAP5:NM_001367498:exon5:c.C556T:p.R186X,CNTNAP5:NM_130773:exon5:c.C556T:p.R186X",.,N,A,.,.,.
chr2,153515697,153515697,C,A,R001_S,PRPF40A,Missense_Mutation,NM_001365598,exon22,c.G2500T,p.D834Y,SNP,SNVindel,exonic,PRPF40A,NA,nonsynonymous SNV,"PRPF40A:NM_001365598:exon22:c.G2500T:p.D834Y,PRPF40A:NM_001365599:exon22:c.G2488T:p.D830Y,PRPF40A:NM_001365601:exon22:c.G2374T:p.D792Y,PRPF40A:NM_001354431:exon23:c.G2362T:p.D788Y,PRPF40A:NM_001365596:exon23:c.G2554T:p.D852Y,PRPF40A:NM_001365597:exon23:c.G2542T:p.D848Y,PRPF40A:NM_001365600:exon23:c.G2428T:p.D810Y,PRPF40A:NM_001365604:exon23:c.G2194T:p.D732Y,PRPF40A:NM_001365605:exon23:c.G2194T:p.D732Y,PRPF40A:NM_017892:exon23:c.G2416T:p.D806Y,PRPF40A:NM_001365602:exon24:c.G2260T:p.D754Y,PRPF40A:NM_001365603:exon24:c.G2248T:p.D750Y,PRPF40A:NM_001354432:exon25:c.G2212T:p.D738Y",D,D,D,T,D,T
chr2,210874399,210874399,C,A,R001_S,RPE,Silent,NM_001278285,exon2,c.C141A,p.I47I,SNP,SNVindel,exonic,RPE,NA,synonymous SNV,"RPE:NM_001278285:exon2:c.C141A:p.I47I,RPE:NM_001278289:exon2:c.C141A:p.I47I,RPE:NM_001318926:exon2:c.C141A:p.I47I,RPE:NM_001318927:exon2:c.C141A:p.I47I,RPE:NM_001318928:exon2:c.C141A:p.I47I,RPE:NM_001318929:exon2:c.C141A:p.I47I,RPE:NM_199229:exon2:c.C141A:p.I47I",NA,NA,NA,NA,NA,NA
chr3,27758698,27758698,G,A,R001_S,EOMES,Nonsense_Mutation,NM_001278182,exon6,c.C1981T,p.R661X,SNP,SNVindel,exonic,EOMES,NA,stopgain,"EOMES:NM_001278182:exon6:c.C1981T:p.R661X,EOMES:NM_001278183:exon6:c.C1096T:p.R366X,EOMES:NM_005442:exon6:c.C1924T:p.R642X",.,N,D,.,.,.
chr3,38347521,38347521,G,A,R001_S,SLC22A14,Missense_Mutation,NM_004803,exon1,c.G4A,p.A2T,SNP,SNVindel,exonic,SLC22A14,NA,nonsynonymous SNV,"SLC22A14:NM_004803:exon1:c.G4A:p.A2T,SLC22A14:NM_001320033:exon2:c.G4A:p.A2T",T,N,N,T,N,T
chr3,126261247,126261247,C,T,R001_S,CHST13,Silent,NM_152889,exon3,c.C852T,p.S284S,SNP,SNVindel,exonic,CHST13,NA,synonymous SNV,CHST13:NM_152889:exon3:c.C852T:p.S284S,.,.,N,.,.,T
chr3,194390822,194390822,G,C,R001_S,LSG1,Missense_Mutation,NM_018385,exon2,c.C142G,p.L48V,SNP,SNVindel,exonic,LSG1,NA,nonsynonymous SNV,LSG1:NM_018385:exon2:c.C142G:p.L48V,D,N,D,T,N,T
chr4,111470756,111470756,G,A,R001_S,ENPEP,Silent,NM_001977,exon16,c.G2298A,p.S766S,SNP,SNVindel,exonic,ENPEP,NA,synonymous SNV,ENPEP:NM_001977:exon16:c.G2298A:p.S766S,NA,NA,NA,NA,NA,NA
chr4,185320085,185320085,G,T,R001_S,IRF2,Silent,NM_002199,exon7,c.C678A,p.P226P,SNP,SNVindel,exonic,IRF2,NA,synonymous SNV,IRF2:NM_002199:exon7:c.C678A:p.P226P,NA,NA,NA,NA,NA,NA
chr5,140559034,140559034,C,T,R001_S,PCDHB8,Silent,NM_019120,exon1,c.C1419T,p.S473S,SNP,SNVindel,exonic,PCDHB8,NA,synonymous SNV,PCDHB8:NM_019120:exon1:c.C1419T:p.S473S,NA,NA,NA,NA,NA,NA
chr6,49583388,49583388,C,A,R001_S,RHAG,Missense_Mutation,NM_000324,exon4,c.G589T,p.G197W,SNP,SNVindel,exonic,RHAG,NA,nonsynonymous SNV,RHAG:NM_000324:exon4:c.G589T:p.G197W,D,N,N,T,D,T
chr6,124676442,124676442,G,A,R001_S,NKAIN2,Silent,NM_001040214,exon3,c.G222A,p.T74T,SNP,SNVindel,exonic,NKAIN2,NA,synonymous SNV,"NKAIN2:NM_001040214:exon3:c.G222A:p.T74T,NKAIN2:NM_153355:exon3:c.G222A:p.T74T,NKAIN2:NM_001300737:exon4:c.G219A:p.T73T",NA,NA,NA,NA,NA,NA
chr7,801394,801394,T,A,R001_S,DNAAF5,Missense_Mutation,NM_017802,exon7,c.T1475A,p.L492H,SNP,SNVindel,exonic,DNAAF5,NA,nonsynonymous SNV,DNAAF5:NM_017802:exon7:c.T1475A:p.L492H,T,N,N,T,N,T
chr7,50136124,50136124,G,T,R001_S,SPATA48,Missense_Mutation,NM_001161834,exon1,c.G443T,p.G148V,SNP,SNVindel,exonic,SPATA48,NA,nonsynonymous SNV,SPATA48:NM_001161834:exon1:c.G443T:p.G148V,D,.,N,.,D,T
chr7,55493065,55493065,C,G,R001_S,LANCL2,Missense_Mutation,NM_018697,exon7,c.C1127G,p.S376C,SNP,SNVindel,exonic,LANCL2,NA,nonsynonymous SNV,LANCL2:NM_018697:exon7:c.C1127G:p.S376C,T,N,D,T,N,T
chr7,100679970,100679970,C,T,R001_S,MUC17,Missense_Mutation,NM_001040105,exon3,c.C5273T,p.T1758I,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.C5273T:p.T1758I,D,.,N,T,N,T
chr7,103004687,103004687,C,G,R001_S,PSMC2,Missense_Mutation,NM_002803,exon8,c.C689G,p.A230G,SNP,SNVindel,exonic,PSMC2,NA,nonsynonymous SNV,PSMC2:NM_002803:exon8:c.C689G:p.A230G,D,D,D,D,D,D
chr8,19700384,19700384,T,C,R001_S,INTS10,Silent,NM_001353516,exon13,c.T981C,p.C327C,SNP,SNVindel,exonic,INTS10,NA,synonymous SNV,"INTS10:NM_001353516:exon13:c.T981C:p.C327C,INTS10:NM_001353517:exon13:c.T978C:p.C326C,INTS10:NM_001353518:exon13:c.T978C:p.C326C,INTS10:NM_001353519:exon13:c.T978C:p.C326C,INTS10:NM_001353520:exon13:c.T915C:p.C305C,INTS10:NM_001353521:exon13:c.T978C:p.C326C,INTS10:NM_001353522:exon13:c.T978C:p.C326C,INTS10:NM_001353505:exon14:c.T1668C:p.C556C,INTS10:NM_001353506:exon14:c.T1665C:p.C555C,INTS10:NM_001353507:exon14:c.T1665C:p.C555C,INTS10:NM_001353508:exon14:c.T1662C:p.C554C,INTS10:NM_001353509:exon14:c.T1602C:p.C534C,INTS10:NM_001353510:exon14:c.T1668C:p.C556C,INTS10:NM_001353511:exon14:c.T1530C:p.C510C,INTS10:NM_001353512:exon14:c.T1530C:p.C510C,INTS10:NM_001353513:exon14:c.T1329C:p.C443C,INTS10:NM_001353514:exon14:c.T1326C:p.C442C,INTS10:NM_001353515:exon14:c.T1326C:p.C442C,INTS10:NM_018142:exon14:c.T1665C:p.C555C",NA,NA,NA,NA,NA,NA
chr8,49642355,49642355,C,T,R001_S,EFCAB1,Missense_Mutation,NM_001142857,exon3,c.G239A,p.S80N,SNP,SNVindel,exonic,EFCAB1,NA,nonsynonymous SNV,"EFCAB1:NM_001142857:exon3:c.G239A:p.S80N,EFCAB1:NM_001363973:exon3:c.G239A:p.S80N,EFCAB1:NM_001363974:exon3:c.G239A:p.S80N,EFCAB1:NM_024593:exon4:c.G395A:p.S132N",D,D,D,T,N,T
chr8,70964419,70964419,G,A,R001_S,PRDM14,Missense_Mutation,NM_024504,exon8,c.C1609T,p.R537W,SNP,SNVindel,exonic,PRDM14,NA,nonsynonymous SNV,PRDM14:NM_024504:exon8:c.C1609T:p.R537W,D,D,D,T,D,T
chr8,144940711,144940711,G,A,R001_S,EPPK1,Silent,NM_031308,exon2,c.C6711T,p.P2237P,SNP,SNVindel,exonic,EPPK1,NA,synonymous SNV,EPPK1:NM_031308:exon2:c.C6711T:p.P2237P,NA,NA,NA,NA,NA,NA
chr8,146076122,146076122,C,T,R001_S,COMMD5,Missense_Mutation,NM_001081003,exon2,c.G602A,p.R201Q,SNP,SNVindel,exonic,COMMD5,NA,nonsynonymous SNV,"COMMD5:NM_001081003:exon2:c.G602A:p.R201Q,COMMD5:NM_001081004:exon2:c.G602A:p.R201Q,COMMD5:NM_001287237:exon2:c.G602A:p.R201Q,COMMD5:NM_014066:exon2:c.G602A:p.R201Q",D,D,D,T,D,T
chr9,140174200,140174200,G,A,R001_S,TOR4A,Silent,NM_017723,exon2,c.G1059A,p.P353P,SNP,SNVindel,exonic,TOR4A,NA,synonymous SNV,TOR4A:NM_017723:exon2:c.G1059A:p.P353P,NA,NA,NA,NA,NA,NA
chr10,122263428,122263428,G,A,R001_S,PLPP4,Missense_Mutation,NM_001030059,exon2,c.G155A,p.R52H,SNP,SNVindel,exonic,PLPP4,NA,nonsynonymous SNV,"PLPP4:NM_001030059:exon2:c.G155A:p.R52H,PLPP4:NM_001318166:exon2:c.G155A:p.R52H,PLPP4:NM_001318167:exon2:c.G155A:p.R52H,PLPP4:NM_001318168:exon2:c.G155A:p.R52H,PLPP4:NM_001318169:exon2:c.G155A:p.R52H",D,D,D,T,N,T
chr11,2436497,2436497,C,T,R001_S,TRPM5,Missense_Mutation,NM_014555,exon9,c.G1333A,p.G445S,SNP,SNVindel,exonic,TRPM5,NA,nonsynonymous SNV,TRPM5:NM_014555:exon9:c.G1333A:p.G445S,T,.,N,T,N,T
chr11,7324329,7324329,G,A,R001_S,SYT9,Missense_Mutation,NM_175733,exon2,c.G205A,p.V69M,SNP,SNVindel,exonic,SYT9,NA,nonsynonymous SNV,SYT9:NM_175733:exon2:c.G205A:p.V69M,D,D,D,T,N,T
chr11,56468225,56468225,G,A,R001_S,OR9G1,Missense_Mutation,NM_001005213,exon1,c.G362A,p.R121H,SNP,SNVindel,exonic,OR9G1;OR9G9,NA,nonsynonymous SNV,"OR9G1:NM_001005213:exon1:c.G362A:p.R121H,OR9G9:NM_001013358:exon1:c.G362A:p.R121H",D,D,D,T,D,T
chr11,74994458,74994458,C,T,R001_S,ARRB1,Missense_Mutation,NM_004041,exon5,c.G227A,p.R76H,SNP,SNVindel,exonic,ARRB1,NA,nonsynonymous SNV,"ARRB1:NM_004041:exon5:c.G227A:p.R76H,ARRB1:NM_020251:exon5:c.G227A:p.R76H",D,D,D,T,D,T
chr12,21422680,21422680,C,T,R001_S,SLCO1A2,Silent,NM_021094,exon14,c.G1815A,p.P605P,SNP,SNVindel,exonic,SLCO1A2,NA,synonymous SNV,"SLCO1A2:NM_021094:exon14:c.G1815A:p.P605P,SLCO1A2:NM_134431:exon16:c.G1815A:p.P605P",NA,NA,NA,NA,NA,NA
chr13,103382135,103382135,C,T,R001_S,CCDC168,Missense_Mutation,NM_001146197,exon4,c.G20912A,p.R6971H,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.G20912A:p.R6971H,.,N,N,.,.,T
chr14,21993420,21993420,C,T,R001_S,SALL2,Missense_Mutation,NM_001364564,exon2,c.G436A,p.G146R,SNP,SNVindel,exonic,SALL2,NA,nonsynonymous SNV,"SALL2:NM_001364564:exon2:c.G436A:p.G146R,SALL2:NM_005407:exon2:c.G442A:p.G148R",D,N,D,T,N,T
chr14,70924812,70924812,C,T,R001_S,ADAM21,Missense_Mutation,NM_003813,exon2,c.C596T,p.S199F,SNP,SNVindel,exonic,ADAM21,NA,nonsynonymous SNV,ADAM21:NM_003813:exon2:c.C596T:p.S199F,.,U,N,T,.,T
chr14,79432621,79432621,C,A,R001_S,NRXN3,Missense_Mutation,NM_004796,exon9,c.C1530A,p.S510R,SNP,SNVindel,exonic,NRXN3,NA,nonsynonymous SNV,"NRXN3:NM_004796:exon9:c.C1530A:p.S510R,NRXN3:NM_001330195:exon12:c.C2649A:p.S883R,NRXN3:NM_001366425:exon12:c.C2649A:p.S883R,NRXN3:NM_001366426:exon13:c.C2661A:p.S887R",D,D,N,T,N,T
chr15,41605509,41605509,C,A,R001_S,OIP5,Missense_Mutation,NM_001317860,exon3,c.G433T,p.D145Y,SNP,SNVindel,exonic,OIP5,NA,nonsynonymous SNV,"OIP5:NM_001317860:exon3:c.G433T:p.D145Y,OIP5:NM_007280:exon4:c.G556T:p.D186Y",D,N,D,.,D,T
chr16,633606,633606,G,A,R001_S,PIGQ,Missense_Mutation,NM_148920,exon10,c.G2255A,p.R752Q,SNP,SNVindel,exonic,PIGQ,NA,nonsynonymous SNV,PIGQ:NM_148920:exon10:c.G2255A:p.R752Q,D,.,N,T,N,T
chr16,2579524,2579524,C,A,R001_S,AMDHD2,Nonsense_Mutation,NM_001145815,exon10,c.C1280A,p.S427X,SNP,SNVindel,exonic,AMDHD2,NA,stopgain,"AMDHD2:NM_001145815:exon10:c.C1280A:p.S427X,AMDHD2:NM_015944:exon10:c.C1280A:p.S427X,AMDHD2:NM_001330449:exon11:c.C1190A:p.S397X",.,D,D,.,.,.
chr16,3656624,3656624,C,A,R001_S,SLX4,Missense_Mutation,NM_032444,exon3,c.G611T,p.R204L,SNP,SNVindel,exonic,SLX4,NA,nonsynonymous SNV,SLX4:NM_032444:exon3:c.G611T:p.R204L,D,D,D,T,D,T
chr16,81303976,81303976,G,A,R001_S,BCO1,Silent,NM_017429,exon7,c.G1056A,p.S352S,SNP,SNVindel,exonic,BCO1,NA,synonymous SNV,BCO1:NM_017429:exon7:c.G1056A:p.S352S,NA,NA,NA,NA,NA,NA
chr17,7576853,7576853,C,G,R001_S,TP53,Missense_Mutation,NM_001126115,exon5,c.G597C,p.Q199H,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon5:c.G597C:p.Q199H,TP53:NM_001126116:exon5:c.G597C:p.Q199H,TP53:NM_001126117:exon5:c.G597C:p.Q199H,TP53:NM_001276697:exon5:c.G516C:p.Q172H,TP53:NM_001276698:exon5:c.G516C:p.Q172H,TP53:NM_001276699:exon5:c.G516C:p.Q172H,TP53:NM_001126118:exon8:c.G876C:p.Q292H,TP53:NM_000546:exon9:c.G993C:p.Q331H,TP53:NM_001126112:exon9:c.G993C:p.Q331H,TP53:NM_001126113:exon9:c.G993C:p.Q331H,TP53:NM_001126114:exon9:c.G993C:p.Q331H,TP53:NM_001276695:exon9:c.G876C:p.Q292H,TP53:NM_001276696:exon9:c.G876C:p.Q292H,TP53:NM_001276760:exon9:c.G876C:p.Q292H,TP53:NM_001276761:exon9:c.G876C:p.Q292H",D,N,D,D,N,T
chr17,14248939,14248939,C,T,R001_S,HS3ST3B1,Silent,NM_006041,exon2,c.C1149T,p.T383T,SNP,SNVindel,exonic,HS3ST3B1,NA,synonymous SNV,HS3ST3B1:NM_006041:exon2:c.C1149T:p.T383T,NA,NA,NA,NA,NA,NA
chr17,34883492,34883492,A,C,R001_S,MYO19,Missense_Mutation,NM_001033580,exon6,c.T190G,p.F64V,SNP,SNVindel,exonic,MYO19,NA,nonsynonymous SNV,"MYO19:NM_001033580:exon6:c.T190G:p.F64V,MYO19:NM_001163735:exon6:c.T190G:p.F64V,MYO19:NM_025109:exon6:c.T190G:p.F64V",.,D,D,.,.,D
chr17,43332816,43332816,C,G,R001_S,SPATA32,Missense_Mutation,NM_152343,exon4,c.G733C,p.A245P,SNP,SNVindel,exonic,SPATA32,NA,nonsynonymous SNV,SPATA32:NM_152343:exon4:c.G733C:p.A245P,D,N,N,T,D,T
chr17,43332858,43332858,C,G,R001_S,SPATA32,Missense_Mutation,NM_152343,exon4,c.G691C,p.D231H,SNP,SNVindel,exonic,SPATA32,NA,nonsynonymous SNV,SPATA32:NM_152343:exon4:c.G691C:p.D231H,T,N,N,T,N,T
chr17,79609346,79609346,C,A,R001_S,TSPAN10,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TSPAN10,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr18,13884689,13884689,C,T,R001_S,MC2R,Missense_Mutation,NM_000529,exon2,c.G829A,p.A277T,SNP,SNVindel,exonic,MC2R,NA,nonsynonymous SNV,"MC2R:NM_000529:exon2:c.G829A:p.A277T,MC2R:NM_001291911:exon2:c.G829A:p.A277T",D,D,D,T,D,T
chr18,21511049,21511049,G,A,R001_S,LAMA3,Silent,NM_001127718,exon27,c.G3465A,p.L1155L,SNP,SNVindel,exonic,LAMA3,NA,synonymous SNV,"LAMA3:NM_001127718:exon27:c.G3465A:p.L1155L,LAMA3:NM_000227:exon28:c.G3633A:p.L1211L,LAMA3:NM_001127717:exon64:c.G8292A:p.L2764L,LAMA3:NM_198129:exon65:c.G8460A:p.L2820L",NA,NA,NA,NA,NA,NA
chr18,24128006,24128006,C,A,R001_S,KCTD1,Silent,NM_001142730,exon1,c.G495T,p.R165R,SNP,SNVindel,exonic,KCTD1,NA,synonymous SNV,KCTD1:NM_001142730:exon1:c.G495T:p.R165R,NA,NA,NA,NA,NA,NA
chr18,64239255,64239255,T,C,R001_S,CDH19,Missense_Mutation,NM_001271028,exon2,c.A187G,p.I63V,SNP,SNVindel,exonic,CDH19,NA,nonsynonymous SNV,"CDH19:NM_001271028:exon2:c.A187G:p.I63V,CDH19:NM_021153:exon2:c.A187G:p.I63V",T,N,N,T,N,T
chr19,10081927,10081927,G,A,R001_S,COL5A3,Missense_Mutation,NM_015719,exon52,c.C3782T,p.T1261M,SNP,SNVindel,exonic,COL5A3,NA,nonsynonymous SNV,COL5A3:NM_015719:exon52:c.C3782T:p.T1261M,D,N,N,D,N,T
chr19,34922804,34922804,T,C,R001_S,UBA2,Silent,NM_005499,exon3,c.T261C,p.A87A,SNP,SNVindel,exonic,UBA2,NA,synonymous SNV,UBA2:NM_005499:exon3:c.T261C:p.A87A,NA,NA,NA,NA,NA,NA
chr19,49131440,49131440,C,T,R001_S,SPHK2,Missense_Mutation,NM_001204160,exon5,c.C670T,p.R224C,SNP,SNVindel,exonic,SPHK2,NA,nonsynonymous SNV,"SPHK2:NM_001204160:exon5:c.C670T:p.R224C,SPHK2:NM_001243876:exon5:c.C160T:p.R54C,SPHK2:NM_001204158:exon6:c.C601T:p.R201C,SPHK2:NM_001204159:exon6:c.C778T:p.R260C,SPHK2:NM_020126:exon6:c.C778T:p.R260C",D,D,D,T,D,T
chr19,56953875,56953875,C,T,R001_S,ZNF667,Silent,NM_022103,exon5,c.G489A,p.Q163Q,SNP,SNVindel,exonic,ZNF667,NA,synonymous SNV,"ZNF667:NM_022103:exon5:c.G489A:p.Q163Q,ZNF667:NM_001321355:exon6:c.G318A:p.Q106Q,ZNF667:NM_001321356:exon7:c.G489A:p.Q163Q",NA,NA,NA,NA,NA,NA
chr20,3888644,3888644,A,T,R001_S,PANK2,Missense_Mutation,NM_001324192,exon2,c.A700T,p.T234S,SNP,SNVindel,exonic,PANK2,NA,nonsynonymous SNV,"PANK2:NM_001324192:exon2:c.A700T:p.T234S,PANK2:NM_153638:exon2:c.A700T:p.T234S",T,D,D,D,N,D
chr21,46911228,46911228,C,T,R001_S,COL18A1,Silent,NM_030582,exon21,c.C2697T,p.D899D,SNP,SNVindel,exonic,COL18A1,NA,synonymous SNV,"COL18A1:NM_030582:exon21:c.C2697T:p.D899D,COL18A1:NM_130444:exon21:c.C3402T:p.D1134D,COL18A1:NM_130445:exon22:c.C2157T:p.D719D",NA,NA,NA,NA,NA,NA
chr1,110581922,110581922,G,T,R002_F,STRIP1,Missense_Mutation,NM_001270768,exon4,c.G169T,p.A57S,SNP,SNVindel,exonic,STRIP1,NA,nonsynonymous SNV,"STRIP1:NM_001270768:exon4:c.G169T:p.A57S,STRIP1:NM_033088:exon4:c.G454T:p.A152S",T,D,D,T,N,T
chr1,152281652,152281652,G,T,R002_F,FLG,Missense_Mutation,NM_002016,exon3,c.C5710A,p.Q1904K,SNP,SNVindel,exonic,FLG,NA,nonsynonymous SNV,FLG:NM_002016:exon3:c.C5710A:p.Q1904K,T,.,N,T,N,T
chr1,153615811,153615811,C,A,R002_F,CHTOP,Missense_Mutation,NM_001206612,exon5,c.C515A,p.A172D,SNP,SNVindel,exonic,CHTOP,NA,nonsynonymous SNV,"CHTOP:NM_001206612:exon5:c.C515A:p.A172D,CHTOP:NM_015607:exon5:c.C512A:p.A171D",D,D,D,D,N,D
chr1,158151328,158151328,T,A,R002_F,CD1D,Missense_Mutation,NM_001319145,exon3,c.T145A,p.W49R,SNP,SNVindel,exonic,CD1D,NA,nonsynonymous SNV,"CD1D:NM_001319145:exon3:c.T145A:p.W49R,CD1D:NM_001766:exon3:c.T145A:p.W49R",D,N,D,T,D,T
chr1,213414129,213414129,C,A,R002_F,RPS6KC1,Missense_Mutation,NM_001349657,exon9,c.C419A,p.T140K,SNP,SNVindel,exonic,RPS6KC1,NA,nonsynonymous SNV,"RPS6KC1:NM_001349657:exon9:c.C419A:p.T140K,RPS6KC1:NM_001136138:exon10:c.C1274A:p.T425K,RPS6KC1:NM_001287221:exon10:c.C767A:p.T256K,RPS6KC1:NM_001349646:exon10:c.C1217A:p.T406K,RPS6KC1:NM_001349647:exon10:c.C947A:p.T316K,RPS6KC1:NM_001287218:exon11:c.C674A:p.T225K,RPS6KC1:NM_001287219:exon11:c.C674A:p.T225K,RPS6KC1:NM_001349658:exon11:c.C419A:p.T140K,RPS6KC1:NM_001349661:exon11:c.C254A:p.T85K,RPS6KC1:NM_012424:exon11:c.C1310A:p.T437K,RPS6KC1:NM_001349648:exon12:c.C767A:p.T256K,RPS6KC1:NM_001349649:exon12:c.C767A:p.T256K,RPS6KC1:NM_001349653:exon12:c.C767A:p.T256K,RPS6KC1:NM_001349654:exon12:c.C674A:p.T225K,RPS6KC1:NM_001349662:exon12:c.C254A:p.T85K,RPS6KC1:NM_001349650:exon13:c.C767A:p.T256K,RPS6KC1:NM_001349652:exon13:c.C767A:p.T256K,RPS6KC1:NM_001349659:exon13:c.C254A:p.T85K,RPS6KC1:NM_001349651:exon14:c.C767A:p.T256K,RPS6KC1:NM_001349660:exon14:c.C254A:p.T85K",T,N,N,T,N,T
chr1,237604756,237604756,C,T,R002_F,RYR2,Silent,NM_001035,exon13,c.C1143T,p.S381S,SNP,SNVindel,exonic,RYR2,NA,synonymous SNV,RYR2:NM_001035:exon13:c.C1143T:p.S381S,NA,NA,NA,NA,NA,NA
chr2,17998353,17998353,G,T,R002_F,MSGN1,Missense_Mutation,NM_001105569,exon1,c.G568T,p.A190S,SNP,SNVindel,exonic,MSGN1,NA,nonsynonymous SNV,MSGN1:NM_001105569:exon1:c.G568T:p.A190S,T,N,N,T,N,T
chr2,25095488,25095488,C,T,R002_F,ADCY3,Missense_Mutation,NM_001320613,exon3,c.G776A,p.R259H,SNP,SNVindel,exonic,ADCY3,NA,nonsynonymous SNV,"ADCY3:NM_001320613:exon3:c.G776A:p.R259H,ADCY3:NM_004036:exon3:c.G776A:p.R259H",D,D,D,D,D,D
chr2,85008631,85008631,C,G,R002_F,DNAH6,Nonsense_Mutation,NM_001370,exon65,c.C10718G,p.S3573X,SNP,SNVindel,exonic,DNAH6,NA,stopgain,DNAH6:NM_001370:exon65:c.C10718G:p.S3573X,.,D,A,.,.,.
chr2,102480424,102480424,C,T,R002_F,MAP4K4,Missense_Mutation,NM_001242560,exon16,c.C1753T,p.L585F,SNP,SNVindel,exonic,MAP4K4,NA,nonsynonymous SNV,MAP4K4:NM_001242560:exon16:c.C1753T:p.L585F,T,N,D,T,N,T
chr2,179582730,179582730,A,G,R002_F,TTN,Missense_Mutation,NM_133378,exon83,c.T21271C,p.S7091P,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon83:c.T21271C:p.S7091P,TTN:NM_001256850:exon84:c.T24052C:p.S8018P,TTN:NM_001267550:exon86:c.T25003C:p.S8335P",D,.,N,T,N,T
chr2,179640850,179640850,G,A,R002_F,TTN,Missense_Mutation,NM_003319,exon27,c.C5603T,p.A1868V,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon27:c.C5603T:p.A1868V,TTN:NM_133432:exon27:c.C5603T:p.A1868V,TTN:NM_133437:exon27:c.C5603T:p.A1868V,TTN:NM_001256850:exon28:c.C5741T:p.A1914V,TTN:NM_001267550:exon28:c.C5741T:p.A1914V,TTN:NM_133378:exon28:c.C5741T:p.A1914V,TTN:NM_133379:exon28:c.C5741T:p.A1914V",D,.,D,T,D,D
chr2,186665921,186665921,A,T,R002_F,FSIP2,Missense_Mutation,NM_173651,exon17,c.A11888T,p.Q3963L,SNP,SNVindel,exonic,FSIP2,NA,nonsynonymous SNV,FSIP2:NM_173651:exon17:c.A11888T:p.Q3963L,T,.,N,T,D,T
chr2,219029099,219029099,C,T,R002_F,CXCR1,Missense_Mutation,NM_000634,exon2,c.G836A,p.R279H,SNP,SNVindel,exonic,CXCR1,NA,nonsynonymous SNV,CXCR1:NM_000634:exon2:c.G836A:p.R279H,T,N,N,T,N,T
chr2,228563639,228563639,C,T,R002_F,SLC19A3,Silent,NM_001371411,exon3,c.G792A,p.Q264Q,SNP,SNVindel,exonic,SLC19A3,NA,synonymous SNV,"SLC19A3:NM_001371411:exon3:c.G792A:p.Q264Q,SLC19A3:NM_001371412:exon3:c.G792A:p.Q264Q,SLC19A3:NM_025243:exon3:c.G792A:p.Q264Q,SLC19A3:NM_001371413:exon4:c.G780A:p.Q260Q,SLC19A3:NM_001371414:exon4:c.G780A:p.Q260Q",NA,NA,NA,NA,NA,NA
chr2,239072803,239072803,C,G,R002_F,ERFE,Missense_Mutation,NM_001291832,exon5,c.C775G,p.L259V,SNP,SNVindel,exonic,ERFE,NA,nonsynonymous SNV,ERFE:NM_001291832:exon5:c.C775G:p.L259V,D,N,N,T,N,T
chr3,5024855,5024855,G,A,R002_F,BHLHE40,Silent,NM_003670,exon5,c.G717A,p.T239T,SNP,SNVindel,exonic,BHLHE40,NA,synonymous SNV,BHLHE40:NM_003670:exon5:c.G717A:p.T239T,NA,NA,NA,NA,NA,NA
chr3,33418780,33418780,C,A,R002_F,FBXL2,Silent,NM_001349322,exon9,c.C552A,p.A184A,SNP,SNVindel,exonic,FBXL2,NA,synonymous SNV,"FBXL2:NM_001349322:exon9:c.C552A:p.A184A,FBXL2:NM_001349316:exon11:c.C804A:p.A268A,FBXL2:NM_001349319:exon11:c.C489A:p.A163A,FBXL2:NM_001349320:exon11:c.C489A:p.A163A,FBXL2:NM_001349323:exon11:c.C489A:p.A163A,FBXL2:NM_001349324:exon11:c.C489A:p.A163A,FBXL2:NM_012157:exon11:c.C804A:p.A268A,FBXL2:NM_001349321:exon12:c.C489A:p.A163A,FBXL2:NM_001349325:exon12:c.C489A:p.A163A,FBXL2:NM_001349326:exon13:c.C489A:p.A163A",NA,NA,NA,NA,NA,NA
chr3,49062387,49062387,C,T,R002_F,IMPDH2,Missense_Mutation,NM_000884,exon11,c.G1237A,p.G413S,SNP,SNVindel,exonic,IMPDH2,NA,nonsynonymous SNV,IMPDH2:NM_000884:exon11:c.G1237A:p.G413S,D,D,D,D,D,D
chr3,137484242,137484242,G,A,R002_F,SOX14,Missense_Mutation,NM_004189,exon1,c.G616A,p.A206T,SNP,SNVindel,exonic,SOX14,NA,nonsynonymous SNV,SOX14:NM_004189:exon1:c.G616A:p.A206T,D,N,D,D,N,D
chr3,158541928,158541928,G,C,R002_F,MFSD1,Missense_Mutation,NM_001167903,exon12,c.G1074C,p.Q358H,SNP,SNVindel,exonic,MFSD1,NA,nonsynonymous SNV,"MFSD1:NM_001167903:exon12:c.G1074C:p.Q358H,MFSD1:NM_001289406:exon12:c.G900C:p.Q300H,MFSD1:NM_001289407:exon13:c.G972C:p.Q324H,MFSD1:NM_022736:exon13:c.G1191C:p.Q397H",D,D,D,T,D,D
chr3,187442853,187442853,C,T,R002_F,BCL6,Missense_Mutation,NM_001134738,exon7,c.G1685A,p.R562H,SNP,SNVindel,exonic,BCL6,NA,nonsynonymous SNV,"BCL6:NM_001134738:exon7:c.G1685A:p.R562H,BCL6:NM_001130845:exon9:c.G1853A:p.R618H,BCL6:NM_001706:exon9:c.G1853A:p.R618H",D,D,D,T,D,T
chr3,196678866,196678866,C,A,R002_F,PIGZ,Missense_Mutation,NM_025163,exon2,c.G37T,p.A13S,SNP,SNVindel,exonic,PIGZ,NA,nonsynonymous SNV,PIGZ:NM_025163:exon2:c.G37T:p.A13S,T,.,N,T,N,T
chr5,40958275,40958275,T,C,R002_F,C7,Silent,NM_000587,exon11,c.T1401C,p.T467T,SNP,SNVindel,exonic,C7,NA,synonymous SNV,C7:NM_000587:exon11:c.T1401C:p.T467T,NA,NA,NA,NA,NA,NA
chr5,40958276,40958276,G,T,R002_F,C7,Missense_Mutation,NM_000587,exon11,c.G1402T,p.V468F,SNP,SNVindel,exonic,C7,NA,nonsynonymous SNV,C7:NM_000587:exon11:c.G1402T:p.V468F,D,N,D,T,D,T
chr5,67591147,67591147,C,G,R002_F,PIK3R1,Nonsense_Mutation,NM_001242466,exon6,c.C651G,p.Y217X,SNP,SNVindel,exonic,PIK3R1,NA,stopgain,"PIK3R1:NM_001242466:exon6:c.C651G:p.Y217X,PIK3R1:NM_181504:exon7:c.C930G:p.Y310X,PIK3R1:NM_181524:exon7:c.C840G:p.Y280X,PIK3R1:NM_181523:exon13:c.C1740G:p.Y580X",.,D,A,.,.,.
chr5,132150317,132150317,G,A,R002_F,SOWAHA,Missense_Mutation,NM_175873,exon1,c.G1004A,p.R335H,SNP,SNVindel,exonic,SOWAHA,NA,nonsynonymous SNV,SOWAHA:NM_175873:exon1:c.G1004A:p.R335H,D,N,N,T,N,T
chr5,161322866,161322866,C,T,R002_F,GABRA1,Missense_Mutation,NM_001127648,exon8,c.C1051T,p.P351S,SNP,SNVindel,exonic,GABRA1,NA,nonsynonymous SNV,"GABRA1:NM_001127648:exon8:c.C1051T:p.P351S,GABRA1:NM_001127644:exon9:c.C1051T:p.P351S,GABRA1:NM_001127645:exon9:c.C1051T:p.P351S,GABRA1:NM_000806:exon10:c.C1051T:p.P351S,GABRA1:NM_001127643:exon10:c.C1051T:p.P351S",T,D,D,T,N,T
chr6,13632751,13632751,C,G,R002_F,RANBP9,Missense_Mutation,NM_005493,exon12,c.G1798C,p.V600L,SNP,SNVindel,exonic,RANBP9,NA,nonsynonymous SNV,RANBP9:NM_005493:exon12:c.G1798C:p.V600L,D,D,D,T,N,T
chr6,44971476,44971476,A,G,R002_F,SUPT3H,Missense_Mutation,NM_001350327,exon5,c.T160C,p.F54L,SNP,SNVindel,exonic,SUPT3H,NA,nonsynonymous SNV,"SUPT3H:NM_001350327:exon5:c.T160C:p.F54L,SUPT3H:NM_001350324:exon6:c.T418C:p.F140L,SUPT3H:NM_001350325:exon6:c.T412C:p.F138L,SUPT3H:NM_001350329:exon6:c.T418C:p.F140L,SUPT3H:NM_003599:exon6:c.T418C:p.F140L,SUPT3H:NM_001350326:exon7:c.T355C:p.F119L,SUPT3H:NM_181356:exon8:c.T451C:p.F151L",T,N,D,T,D,T
chr6,55739662,55739662,A,G,R002_F,BMP5,Translation_Start_Site,NM_001329754,exon1,c.T2C,p.M1?,SNP,SNVindel,exonic,BMP5,NA,startloss,"BMP5:NM_001329754:exon1:c.T2C:p.M1?,BMP5:NM_001329756:exon1:c.T2C:p.M1?,BMP5:NM_021073:exon1:c.T2C:p.M1?",D,D,D,T,N,T
chr6,72960935,72960935,G,C,R002_F,RIMS1,Missense_Mutation,NM_001168407,exon10,c.G984C,p.E328D,SNP,SNVindel,exonic,RIMS1,NA,nonsynonymous SNV,"RIMS1:NM_001168407:exon10:c.G984C:p.E328D,RIMS1:NM_001168408:exon10:c.G984C:p.E328D,RIMS1:NM_001168409:exon10:c.G741C:p.E247D,RIMS1:NM_001168410:exon10:c.G939C:p.E313D,RIMS1:NM_001350414:exon10:c.G984C:p.E328D,RIMS1:NM_001350415:exon10:c.G984C:p.E328D,RIMS1:NM_001350416:exon10:c.G984C:p.E328D,RIMS1:NM_001350417:exon10:c.G984C:p.E328D,RIMS1:NM_001350418:exon10:c.G984C:p.E328D,RIMS1:NM_001350419:exon10:c.G984C:p.E328D,RIMS1:NM_001350420:exon10:c.G984C:p.E328D,RIMS1:NM_001350422:exon10:c.G984C:p.E328D,RIMS1:NM_001350423:exon10:c.G984C:p.E328D,RIMS1:NM_001350425:exon10:c.G984C:p.E328D,RIMS1:NM_001350426:exon10:c.G984C:p.E328D,RIMS1:NM_001350427:exon10:c.G984C:p.E328D,RIMS1:NM_001350429:exon10:c.G984C:p.E328D,RIMS1:NM_001350431:exon10:c.G984C:p.E328D,RIMS1:NM_001350432:exon10:c.G984C:p.E328D,RIMS1:NM_001350433:exon10:c.G984C:p.E328D,RIMS1:NM_001350434:exon10:c.G984C:p.E328D,RIMS1:NM_001350435:exon10:c.G984C:p.E328D,RIMS1:NM_001350436:exon10:c.G984C:p.E328D,RIMS1:NM_001350438:exon10:c.G984C:p.E328D,RIMS1:NM_001350439:exon10:c.G984C:p.E328D,RIMS1:NM_001350440:exon10:c.G984C:p.E328D,RIMS1:NM_001350441:exon10:c.G984C:p.E328D,RIMS1:NM_001350442:exon10:c.G984C:p.E328D,RIMS1:NM_001350443:exon10:c.G984C:p.E328D,RIMS1:NM_001350444:exon10:c.G984C:p.E328D,RIMS1:NM_001350445:exon10:c.G984C:p.E328D,RIMS1:NM_001350446:exon10:c.G984C:p.E328D,RIMS1:NM_001350447:exon10:c.G984C:p.E328D,RIMS1:NM_001350448:exon10:c.G984C:p.E328D,RIMS1:NM_001350449:exon10:c.G984C:p.E328D,RIMS1:NM_001350452:exon10:c.G984C:p.E328D,RIMS1:NM_001350454:exon10:c.G984C:p.E328D,RIMS1:NM_001350455:exon10:c.G984C:p.E328D,RIMS1:NM_001350456:exon10:c.G984C:p.E328D,RIMS1:NM_001350457:exon10:c.G984C:p.E328D,RIMS1:NM_001350458:exon10:c.G984C:p.E328D,RIMS1:NM_001350460:exon10:c.G984C:p.E328D,RIMS1:NM_001350461:exon10:c.G741C:p.E247D,RIMS1:NM_001350463:exon10:c.G741C:p.E247D,RIMS1:NM_001350464:exon10:c.G741C:p.E247D,RIMS1:NM_001350465:exon10:c.G741C:p.E247D,RIMS1:NM_001350466:exon10:c.G741C:p.E247D,RIMS1:NM_001350467:exon10:c.G741C:p.E247D,RIMS1:NM_001350468:exon10:c.G741C:p.E247D,RIMS1:NM_001350469:exon10:c.G741C:p.E247D,RIMS1:NM_001350470:exon10:c.G939C:p.E313D,RIMS1:NM_001350472:exon10:c.G939C:p.E313D,RIMS1:NM_001350473:exon10:c.G939C:p.E313D,RIMS1:NM_001350474:exon10:c.G939C:p.E313D,RIMS1:NM_001350421:exon11:c.G915C:p.E305D,RIMS1:NM_001350424:exon11:c.G915C:p.E305D,RIMS1:NM_001350428:exon11:c.G915C:p.E305D,RIMS1:NM_001350430:exon11:c.G915C:p.E305D,RIMS1:NM_001350437:exon11:c.G915C:p.E305D,RIMS1:NM_001350450:exon11:c.G915C:p.E305D,RIMS1:NM_001350459:exon11:c.G915C:p.E305D,RIMS1:NM_001350462:exon11:c.G915C:p.E305D,RIMS1:NM_001350471:exon11:c.G915C:p.E305D,RIMS1:NM_014989:exon15:c.G2562C:p.E854D",T,N,D,T,D,T
chr6,74472142,74472142,C,T,R002_F,CD109,Missense_Mutation,NM_001159588,exon7,c.C563T,p.T188M,SNP,SNVindel,exonic,CD109,NA,nonsynonymous SNV,"CD109:NM_001159588:exon7:c.C563T:p.T188M,CD109:NM_001159587:exon8:c.C794T:p.T265M,CD109:NM_133493:exon8:c.C794T:p.T265M",D,N,N,T,D,T
chr6,107003717,107003717,C,A,R002_F,CRYBG1,Missense_Mutation,NM_001624,exon15,c.C4436A,p.S1479Y,SNP,SNVindel,exonic,CRYBG1,NA,nonsynonymous SNV,"CRYBG1:NM_001624:exon15:c.C4436A:p.S1479Y,CRYBG1:NM_001371242:exon17:c.C5660A:p.S1887Y",D,N,D,T,D,T
chr6,110300609,110300609,G,A,R002_F,GPR6,Silent,NM_005284,exon2,c.G294A,p.A98A,SNP,SNVindel,exonic,GPR6,NA,synonymous SNV,"GPR6:NM_005284:exon2:c.G294A:p.A98A,GPR6:NM_001286099:exon3:c.G339A:p.A113A",NA,NA,NA,NA,NA,NA
chr6,152651712,152651712,T,A,R002_F,SYNE1,Missense_Mutation,NM_033071,exon77,c.A13895T,p.D4632V,SNP,SNVindel,exonic,SYNE1,NA,nonsynonymous SNV,"SYNE1:NM_033071:exon77:c.A13895T:p.D4632V,SYNE1:NM_182961:exon78:c.A14108T:p.D4703V",T,N,N,T,N,T
chr6,158483049,158483049,C,T,R002_F,SYNJ2,Missense_Mutation,NM_001178088,exon7,c.C269T,p.A90V,SNP,SNVindel,exonic,SYNJ2,NA,nonsynonymous SNV,"SYNJ2:NM_001178088:exon7:c.C269T:p.A90V,SYNJ2:NM_003898:exon8:c.C980T:p.A327V",T,N,D,T,N,T
chr7,11151075,11151075,G,T,R002_F,PHF14,Missense_Mutation,NM_001007157,exon17,c.G2753T,p.C918F,SNP,SNVindel,exonic,PHF14,NA,nonsynonymous SNV,PHF14:NM_001007157:exon17:c.G2753T:p.C918F,NA,NA,NA,NA,NA,NA
chr7,50607724,50607724,C,A,R002_F,DDC,Silent,NM_000790,exon3,c.G204T,p.V68V,SNP,SNVindel,exonic,DDC,NA,synonymous SNV,"DDC:NM_000790:exon3:c.G204T:p.V68V,DDC:NM_001082971:exon3:c.G204T:p.V68V,DDC:NM_001242887:exon3:c.G204T:p.V68V,DDC:NM_001242889:exon3:c.G204T:p.V68V,DDC:NM_001242890:exon3:c.G204T:p.V68V",NA,NA,NA,NA,NA,NA
chr7,72754751,72754751,C,T,R002_F,FKBP6,Nonsense_Mutation,NM_001281304,exon5,c.C610T,p.R204X,SNP,SNVindel,exonic,FKBP6,NA,stopgain,"FKBP6:NM_001281304:exon5:c.C610T:p.R204X,FKBP6:NM_001362789:exon5:c.C565T:p.R189X,FKBP6:NM_001135211:exon6:c.C685T:p.R229X,FKBP6:NM_003602:exon6:c.C700T:p.R234X",.,N,A,.,.,.
chr7,94058586,94058586,G,C,R002_F,COL1A2,Missense_Mutation,NM_000089,exon51,c.G3798C,p.Q1266H,SNP,SNVindel,exonic,COL1A2,NA,nonsynonymous SNV,COL1A2:NM_000089:exon51:c.G3798C:p.Q1266H,D,D,D,D,D,D
chr7,106508533,106508533,C,T,R002_F,PIK3CG,Missense_Mutation,NM_001282426,exon2,c.C527T,p.T176M,SNP,SNVindel,exonic,PIK3CG,NA,nonsynonymous SNV,"PIK3CG:NM_001282426:exon2:c.C527T:p.T176M,PIK3CG:NM_001282427:exon2:c.C527T:p.T176M,PIK3CG:NM_002649:exon2:c.C527T:p.T176M",T,D,D,T,N,T
chr7,144098633,144098633,C,T,R002_F,NOBOX,Missense_Mutation,NM_001080413,exon4,c.G350A,p.R117Q,SNP,SNVindel,exonic,NOBOX,NA,nonsynonymous SNV,NOBOX:NM_001080413:exon4:c.G350A:p.R117Q,T,.,N,D,N,T
chr8,6793547,6793547,C,T,R002_F,DEFA4,Missense_Mutation,NM_001925,exon3,c.G289A,p.D97N,SNP,SNVindel,exonic,DEFA4,NA,nonsynonymous SNV,DEFA4:NM_001925:exon3:c.G289A:p.D97N,D,.,N,T,N,T
chr8,57026168,57026168,G,A,R002_F,MOS,Missense_Mutation,NM_005372,exon1,c.C374T,p.T125M,SNP,SNVindel,exonic,MOS,NA,nonsynonymous SNV,MOS:NM_005372:exon1:c.C374T:p.T125M,D,D,D,T,D,T
chr8,120868028,120868028,C,G,R002_F,DSCC1,Missense_Mutation,NM_024094,exon1,c.G8C,p.R3T,SNP,SNVindel,exonic,DSCC1,NA,nonsynonymous SNV,DSCC1:NM_024094:exon1:c.G8C:p.R3T,D,D,D,T,D,T
chr9,71998599,71998599,A,G,R002_F,FAM189A2,Missense_Mutation,NM_001127608,exon7,c.A548G,p.K183R,SNP,SNVindel,exonic,FAM189A2,NA,nonsynonymous SNV,"FAM189A2:NM_001127608:exon7:c.A548G:p.K183R,FAM189A2:NM_001347995:exon7:c.A1007G:p.K336R,FAM189A2:NM_004816:exon7:c.A548G:p.K183R",D,D,D,T,N,T
chr9,88248283,88248283,C,G,R002_F,AGTPBP1,Missense_Mutation,NM_001286715,exon13,c.G1465C,p.D489H,SNP,SNVindel,exonic,AGTPBP1,NA,nonsynonymous SNV,"AGTPBP1:NM_001286715:exon13:c.G1465C:p.D489H,AGTPBP1:NM_001286717:exon13:c.G1345C:p.D449H,AGTPBP1:NM_001330701:exon14:c.G1309C:p.D437H,AGTPBP1:NM_015239:exon14:c.G1189C:p.D397H",T,N,D,T,N,T
chr9,134735980,134735980,G,A,R002_F,MED27,Missense_Mutation,NM_001253881,exon7,c.C773T,p.P258L,SNP,SNVindel,exonic,MED27,NA,nonsynonymous SNV,"MED27:NM_001253881:exon7:c.C773T:p.P258L,MED27:NM_004269:exon8:c.C881T:p.P294L",D,D,D,.,D,D
chr10,112541506,112541506,G,A,R002_F,RBM20,Missense_Mutation,NM_001134363,exon2,c.G1139A,p.R380Q,SNP,SNVindel,exonic,RBM20,NA,nonsynonymous SNV,RBM20:NM_001134363:exon2:c.G1139A:p.R380Q,T,N,N,D,N,T
chr11,4389235,4389235,A,G,R002_F,OR52B4,Silent,NM_001005161,exon1,c.T291C,p.D97D,SNP,SNVindel,exonic,OR52B4,NA,synonymous SNV,OR52B4:NM_001005161:exon1:c.T291C:p.D97D,NA,NA,NA,NA,NA,NA
chr11,12315731,12315731,G,A,R002_F,MICALCL,Silent,NM_032867,exon3,c.G753A,p.G251G,SNP,SNVindel,exonic,MICALCL,NA,synonymous SNV,MICALCL:NM_032867:exon3:c.G753A:p.G251G,NA,NA,NA,NA,NA,NA
chr11,31653826,31653826,C,T,R002_F,ELP4,Silent,NM_001288725,exon7,c.C804T,p.D268D,SNP,SNVindel,exonic,ELP4,NA,synonymous SNV,"ELP4:NM_001288725:exon7:c.C804T:p.D268D,ELP4:NM_001288726:exon7:c.C801T:p.D267D,ELP4:NM_019040:exon7:c.C801T:p.D267D",NA,NA,NA,NA,NA,NA
chr11,56310138,56310138,A,T,R002_F,OR5M11,Missense_Mutation,NM_001005245,exon1,c.T596A,p.F199Y,SNP,SNVindel,exonic,OR5M11,NA,nonsynonymous SNV,OR5M11:NM_001005245:exon1:c.T596A:p.F199Y,D,.,N,T,N,T
chr11,57971171,57971171,C,T,R002_F,OR1S2,Silent,NM_001004459,exon1,c.G483A,p.S161S,SNP,SNVindel,exonic,OR1S2,NA,synonymous SNV,OR1S2:NM_001004459:exon1:c.G483A:p.S161S,NA,NA,NA,NA,NA,NA
chr11,68455535,68455535,C,T,R002_F,GAL,Missense_Mutation,NM_015973,exon4,c.C190T,p.R64W,SNP,SNVindel,exonic,GAL,NA,nonsynonymous SNV,GAL:NM_015973:exon4:c.C190T:p.R64W,D,D,D,T,D,T
chr11,88300912,88300912,G,A,R002_F,GRM5,Nonsense_Mutation,NM_001143831,exon7,c.C1939T,p.Q647X,SNP,SNVindel,exonic,GRM5,NA,stopgain,"GRM5:NM_001143831:exon7:c.C1939T:p.Q647X,GRM5:NM_000842:exon8:c.C1939T:p.Q647X",.,D,A,.,.,.
chr11,102482515,102482515,G,A,R002_F,MMP20,Missense_Mutation,NM_004771,exon3,c.C494T,p.A165V,SNP,SNVindel,exonic,MMP20,NA,nonsynonymous SNV,MMP20:NM_004771:exon3:c.C494T:p.A165V,D,D,D,T,D,T
chr11,111745654,111745654,G,T,R002_F,FDXACB1,Missense_Mutation,NM_138378,exon5,c.C1867A,p.P623T,SNP,SNVindel,exonic,FDXACB1,NA,nonsynonymous SNV,FDXACB1:NM_138378:exon5:c.C1867A:p.P623T,T,N,N,T,N,T
chr12,11461802,11461802,G,A,R002_F,PRB4,Nonsense_Mutation,NM_001261399,exon3,c.C115T,p.R39X,SNP,SNVindel,exonic,PRB4,NA,stopgain,"PRB4:NM_001261399:exon3:c.C115T:p.R39X,PRB4:NM_002723:exon3:c.C115T:p.R39X",.,.,P,.,.,.
chr12,21355502,21355502,G,A,R002_F,SLCO1B1,Missense_Mutation,NM_006446,exon10,c.G1213A,p.V405I,SNP,SNVindel,exonic,SLCO1B1,NA,nonsynonymous SNV,SLCO1B1:NM_006446:exon10:c.G1213A:p.V405I,T,N,N,T,N,T
chr12,50749565,50749565,C,A,R002_F,FAM186A,Missense_Mutation,NM_001145475,exon4,c.G1050T,p.L350F,SNP,SNVindel,exonic,FAM186A,NA,nonsynonymous SNV,FAM186A:NM_001145475:exon4:c.G1050T:p.L350F,D,.,N,T,N,T
chr12,53291239,53291239,A,G,R002_F,KRT8,Silent,NM_002273,exon8,c.T1425C,p.S475S,SNP,SNVindel,exonic,KRT8,NA,synonymous SNV,"KRT8:NM_002273:exon8:c.T1425C:p.S475S,KRT8:NM_001256282:exon9:c.T1509C:p.S503S,KRT8:NM_001256293:exon9:c.T1425C:p.S475S",NA,NA,NA,NA,NA,NA
chr12,53291266,53291266,G,A,R002_F,KRT8,Silent,NM_002273,exon8,c.C1398T,p.I466I,SNP,SNVindel,exonic,KRT8,NA,synonymous SNV,"KRT8:NM_002273:exon8:c.C1398T:p.I466I,KRT8:NM_001256282:exon9:c.C1482T:p.I494I,KRT8:NM_001256293:exon9:c.C1398T:p.I466I",NA,NA,NA,NA,NA,NA
chr12,121202836,121202836,G,C,R002_F,SPPL3,Missense_Mutation,NM_139015,exon11,c.C1121G,p.S374C,SNP,SNVindel,exonic,SPPL3,NA,nonsynonymous SNV,SPPL3:NM_139015:exon11:c.C1121G:p.S374C,T,D,D,T,N,T
chr14,21544562,21544562,C,T,R002_F,ARHGEF40,Missense_Mutation,NM_018071,exon6,c.C1783T,p.R595C,SNP,SNVindel,exonic,ARHGEF40,NA,nonsynonymous SNV,ARHGEF40:NM_018071:exon6:c.C1783T:p.R595C,D,D,D,T,D,T
chr14,45414966,45414966,C,T,R002_F,KLHL28,Missense_Mutation,NM_001308112,exon2,c.G208A,p.V70I,SNP,SNVindel,exonic,KLHL28,NA,nonsynonymous SNV,"KLHL28:NM_001308112:exon2:c.G208A:p.V70I,KLHL28:NM_017658:exon2:c.G166A:p.V56I",T,N,N,T,N,T
chr14,99641217,99641217,G,A,R002_F,BCL11B,Silent,NM_001282238,exon3,c.C1740T,p.N580N,SNP,SNVindel,exonic,BCL11B,NA,synonymous SNV,"BCL11B:NM_001282238:exon3:c.C1740T:p.N580N,BCL11B:NM_022898:exon3:c.C1743T:p.N581N,BCL11B:NM_001282237:exon4:c.C1953T:p.N651N,BCL11B:NM_138576:exon4:c.C1956T:p.N652N",NA,NA,NA,NA,NA,NA
chr14,105517966,105517966,C,T,R002_F,GPR132,Missense_Mutation,NM_001278695,exon3,c.G481A,p.V161I,SNP,SNVindel,exonic,GPR132,NA,nonsynonymous SNV,"GPR132:NM_001278695:exon3:c.G481A:p.V161I,GPR132:NM_013345:exon4:c.G508A:p.V170I,GPR132:NM_001278694:exon5:c.G508A:p.V170I",T,D,D,T,N,T
chr14,105614565,105614565,G,A,R002_F,JAG2,Silent,NM_145159,exon16,c.C2022T,p.R674R,SNP,SNVindel,exonic,JAG2,NA,synonymous SNV,"JAG2:NM_145159:exon16:c.C2022T:p.R674R,JAG2:NM_002226:exon17:c.C2136T:p.R712R",NA,NA,NA,NA,NA,NA
chr14,105930406,105930406,G,A,R002_F,MTA1,Missense_Mutation,NM_001203258,exon13,c.G1114A,p.V372I,SNP,SNVindel,exonic,MTA1,NA,nonsynonymous SNV,"MTA1:NM_001203258:exon13:c.G1114A:p.V372I,MTA1:NM_004689:exon13:c.G1114A:p.V372I",T,N,P,T,N,T
chr15,31212775,31212775,G,T,R002_F,FAN1,Silent,NM_014967,exon7,c.G1971T,p.L657L,SNP,SNVindel,exonic,FAN1,NA,synonymous SNV,FAN1:NM_014967:exon7:c.G1971T:p.L657L,NA,NA,NA,NA,NA,NA
chr15,31212776,31212776,C,T,R002_F,FAN1,Missense_Mutation,NM_014967,exon7,c.C1972T,p.R658W,SNP,SNVindel,exonic,FAN1,NA,nonsynonymous SNV,FAN1:NM_014967:exon7:c.C1972T:p.R658W,D,D,D,T,D,T
chr15,43525871,43525871,G,T,R002_F,TGM5,Silent,NM_004245,exon11,c.C1644A,p.A548A,SNP,SNVindel,exonic,TGM5,NA,synonymous SNV,"TGM5:NM_004245:exon11:c.C1644A:p.A548A,TGM5:NM_201631:exon12:c.C1890A:p.A630A",NA,NA,NA,NA,NA,NA
chr15,86125014,86125014,G,A,R002_F,AKAP13,Missense_Mutation,NM_006738,exon7,c.G3715A,p.A1239T,SNP,SNVindel,exonic,AKAP13,NA,nonsynonymous SNV,"AKAP13:NM_006738:exon7:c.G3715A:p.A1239T,AKAP13:NM_007200:exon7:c.G3715A:p.A1239T",T,.,N,T,N,T
chr16,4626038,4626038,C,A,R002_F,C16orf96,Silent,NM_001145011,exon5,c.C1557A,p.P519P,SNP,SNVindel,exonic,C16orf96,NA,synonymous SNV,C16orf96:NM_001145011:exon5:c.C1557A:p.P519P,NA,NA,NA,NA,NA,NA
chr16,4626059,4626059,T,A,R002_F,C16orf96,Missense_Mutation,NM_001145011,exon5,c.T1578A,p.D526E,SNP,SNVindel,exonic,C16orf96,NA,nonsynonymous SNV,C16orf96:NM_001145011:exon5:c.T1578A:p.D526E,T,.,N,.,N,T
chr16,27441381,27441381,G,A,R002_F,IL21R,Missense_Mutation,NM_181079,exon3,c.G55A,p.V19M,SNP,SNVindel,exonic,IL21R,NA,nonsynonymous SNV,IL21R:NM_181079:exon3:c.G55A:p.V19M,NA,NA,NA,NA,NA,NA
chr16,50347938,50347938,G,T,R002_F,ADCY7,Missense_Mutation,NM_001114,exon23,c.G2821T,p.A941S,SNP,SNVindel,exonic,ADCY7,NA,nonsynonymous SNV,ADCY7:NM_001114:exon23:c.G2821T:p.A941S,T,U,D,T,N,T
chr16,57255238,57255238,G,A,R002_F,RSPRY1,Missense_Mutation,NM_001305163,exon10,c.G1072A,p.A358T,SNP,SNVindel,exonic,RSPRY1,NA,nonsynonymous SNV,"RSPRY1:NM_001305163:exon10:c.G1072A:p.A358T,RSPRY1:NM_001305164:exon10:c.G1072A:p.A358T,RSPRY1:NM_133368:exon10:c.G1072A:p.A358T",T,N,D,T,N,T
chr17,27982583,27982583,G,T,R002_F,SSH2,Silent,NM_033389,exon11,c.C994A,p.R332R,SNP,SNVindel,exonic,SSH2,NA,synonymous SNV,"SSH2:NM_033389:exon11:c.C994A:p.R332R,SSH2:NM_001282129:exon12:c.C1075A:p.R359R",NA,NA,NA,NA,NA,NA
chr17,39123046,39123046,C,A,R002_F,KRT39,Missense_Mutation,NM_213656,exon1,c.G63T,p.R21S,SNP,SNVindel,exonic,KRT39,NA,nonsynonymous SNV,KRT39:NM_213656:exon1:c.G63T:p.R21S,T,N,N,D,N,T
chr17,40456416,40456416,C,T,R002_F,STAT5A,Missense_Mutation,NM_001288719,exon9,c.C1136T,p.T379M,SNP,SNVindel,exonic,STAT5A,NA,nonsynonymous SNV,"STAT5A:NM_001288719:exon9:c.C1136T:p.T379M,STAT5A:NM_001288718:exon10:c.C1226T:p.T409M,STAT5A:NM_001288720:exon10:c.C1226T:p.T409M,STAT5A:NM_003152:exon11:c.C1226T:p.T409M",D,D,D,D,D,D
chr18,5394760,5394760,C,T,R002_F,EPB41L3,Silent,NM_001281534,exon19,c.G2520A,p.E840E,SNP,SNVindel,exonic,EPB41L3,NA,synonymous SNV,"EPB41L3:NM_001281534:exon19:c.G2520A:p.E840E,EPB41L3:NM_001281535:exon21:c.G2193A:p.E731E,EPB41L3:NM_001330557:exon21:c.G2679A:p.E893E,EPB41L3:NM_012307:exon22:c.G3186A:p.E1062E",NA,NA,NA,NA,NA,NA
chr18,44137394,44137394,C,T,R002_F,LOXHD1,Missense_Mutation,NM_144612,exon21,c.G3275A,p.R1092H,SNP,SNVindel,exonic,LOXHD1,NA,nonsynonymous SNV,LOXHD1:NM_144612:exon21:c.G3275A:p.R1092H,D,D,D,T,D,T
chr19,3548217,3548217,C,G,R002_F,MFSD12,Missense_Mutation,NM_001287529,exon3,c.G531C,p.W177C,SNP,SNVindel,exonic,MFSD12,NA,nonsynonymous SNV,"MFSD12:NM_001287529:exon3:c.G531C:p.W177C,MFSD12:NM_174983:exon3:c.G558C:p.W186C",D,D,D,D,D,D
chr19,8032647,8032647,C,T,R002_F,ELAVL1,Missense_Mutation,NM_001419,exon5,c.G458A,p.R153Q,SNP,SNVindel,exonic,ELAVL1,NA,nonsynonymous SNV,ELAVL1:NM_001419:exon5:c.G458A:p.R153Q,D,D,D,T,D,T
chr19,14200067,14200067,G,A,R002_F,SAMD1,Silent,NM_138352,exon3,c.C744T,p.D248D,SNP,SNVindel,exonic,SAMD1,NA,synonymous SNV,SAMD1:NM_138352:exon3:c.C744T:p.D248D,NA,NA,NA,NA,NA,NA
chr19,15791240,15791240,C,T,R002_F,CYP4F12,Missense_Mutation,NM_023944,exon5,c.C436T,p.R146C,SNP,SNVindel,exonic,CYP4F12,NA,nonsynonymous SNV,CYP4F12:NM_023944:exon5:c.C436T:p.R146C,D,U,D,T,D,T
chr19,17758165,17758165,C,G,R002_F,UNC13A,Silent,NM_001080421,exon16,c.G1953C,p.V651V,SNP,SNVindel,exonic,UNC13A,NA,synonymous SNV,UNC13A:NM_001080421:exon16:c.G1953C:p.V651V,NA,NA,NA,NA,NA,NA
chr19,22940806,22940806,G,A,R002_F,ZNF99,Silent,NM_001080409,exon4,c.C1905T,p.T635T,SNP,SNVindel,exonic,ZNF99,NA,synonymous SNV,ZNF99:NM_001080409:exon4:c.C1905T:p.T635T,NA,NA,NA,NA,NA,NA
chr19,54745507,54745507,T,C,R002_F,LILRA6,Silent,NM_001081450,exon4,c.A603G,p.T201T,SNP,SNVindel,exonic,LILRA6;LILRB3,NA,synonymous SNV,"LILRB3:NM_001081450:exon4:c.A603G:p.T201T,LILRB3:NM_001320960:exon4:c.A603G:p.T201T,LILRA6:NM_001360167:exon4:c.A603G:p.T201T,LILRB3:NM_006864:exon4:c.A603G:p.T201T,LILRA6:NM_024318:exon4:c.A594G:p.T198T",NA,NA,NA,NA,NA,NA
chr19,55144141,55144141,A,G,R002_F,LILRB1,Silent,NM_001081637,exon6,c.A888G,p.R296R,SNP,SNVindel,exonic,LILRB1,NA,synonymous SNV,"LILRB1:NM_001081637:exon6:c.A888G:p.R296R,LILRB1:NM_001081638:exon6:c.A888G:p.R296R,LILRB1:NM_001081639:exon6:c.A888G:p.R296R,LILRB1:NM_001278398:exon6:c.A888G:p.R296R,LILRB1:NM_001278399:exon6:c.A888G:p.R296R,LILRB1:NM_006669:exon7:c.A888G:p.R296R",NA,NA,NA,NA,NA,NA
chr19,56423706,56423706,A,G,R002_F,NLRP13,Missense_Mutation,NM_001321057,exon5,c.T1477C,p.S493P,SNP,SNVindel,exonic,NLRP13,NA,nonsynonymous SNV,"NLRP13:NM_001321057:exon5:c.T1477C:p.S493P,NLRP13:NM_176810:exon5:c.T1477C:p.S493P",T,.,N,T,N,T
chr20,2378651,2378651,C,T,R002_F,TGM6,Missense_Mutation,NM_001254734,exon5,c.C631T,p.R211C,SNP,SNVindel,exonic,TGM6,NA,nonsynonymous SNV,"TGM6:NM_001254734:exon5:c.C631T:p.R211C,TGM6:NM_198994:exon5:c.C631T:p.R211C",D,D,D,D,D,D
chr20,25038562,25038562,G,C,R002_F,ACSS1,Silent,NM_001252675,exon1,c.C177G,p.P59P,SNP,SNVindel,exonic,ACSS1,NA,synonymous SNV,"ACSS1:NM_001252675:exon1:c.C177G:p.P59P,ACSS1:NM_001252677:exon1:c.C177G:p.P59P,ACSS1:NM_032501:exon1:c.C177G:p.P59P",NA,NA,NA,NA,NA,NA
chr20,32250243,32250243,C,A,R002_F,C20orf144,Nonsense_Mutation,NM_080825,exon1,c.C92A,p.S31X,SNP,SNVindel,exonic,C20orf144,NA,stopgain,C20orf144:NM_080825:exon1:c.C92A:p.S31X,.,N,D,.,.,.
chr20,45801364,45801364,C,G,R002_F,EYA2,Missense_Mutation,NM_005244,exon12,c.C1047G,p.N349K,SNP,SNVindel,exonic,EYA2,NA,nonsynonymous SNV,"EYA2:NM_005244:exon12:c.C1047G:p.N349K,EYA2:NM_172110:exon12:c.C1047G:p.N349K",D,D,D,T,D,D
chr21,33340591,33340591,G,T,R002_F,HUNK,Nonsense_Mutation,NM_014586,exon6,c.G904T,p.E302X,SNP,SNVindel,exonic,HUNK,NA,stopgain,HUNK:NM_014586:exon6:c.G904T:p.E302X,D,.,A,T,N,D
chr22,21355646,21355646,C,A,R002_F,THAP7,Silent,NM_030573,exon2,c.G135T,p.R45R,SNP,SNVindel,exonic,THAP7,NA,synonymous SNV,"THAP7:NM_030573:exon2:c.G135T:p.R45R,THAP7:NM_001008695:exon3:c.G135T:p.R45R",NA,NA,NA,NA,NA,NA
chrX,27479179,27479179,G,A,R002_F,PPP4R3C,Silent,NM_207319,exon1,c.C2235T,p.D745D,SNP,SNVindel,exonic,PPP4R3C,NA,synonymous SNV,PPP4R3C:NM_207319:exon1:c.C2235T:p.D745D,NA,NA,NA,NA,NA,NA
chrX,32360293,32360293,T,A,R002_F,DMD,Missense_Mutation,NM_004011,exon13,c.A1823T,p.Q608L,SNP,SNVindel,exonic,DMD,NA,nonsynonymous SNV,"DMD:NM_004011:exon13:c.A1823T:p.Q608L,DMD:NM_004012:exon13:c.A1814T:p.Q605L,DMD:NM_000109:exon41:c.A5822T:p.Q1941L,DMD:NM_004006:exon41:c.A5846T:p.Q1949L,DMD:NM_004009:exon41:c.A5834T:p.Q1945L,DMD:NM_004010:exon41:c.A5477T:p.Q1826L",T,U,N,T,N,T
chrX,34148939,34148939,C,T,R002_F,FAM47A,Missense_Mutation,NM_203408,exon1,c.G1457A,p.R486H,SNP,SNVindel,exonic,FAM47A,NA,nonsynonymous SNV,FAM47A:NM_203408:exon1:c.G1457A:p.R486H,T,.,N,T,N,T
chrX,78216968,78216968,C,A,R002_F,P2RY10,Silent,NM_198333,exon2,c.C951A,p.S317S,SNP,SNVindel,exonic,P2RY10,NA,synonymous SNV,"P2RY10:NM_198333:exon2:c.C951A:p.S317S,P2RY10:NM_001324218:exon3:c.C951A:p.S317S,P2RY10:NM_001324221:exon3:c.C1002A:p.S334S,P2RY10:NM_001324225:exon4:c.C1026A:p.S342S,P2RY10:NM_014499:exon4:c.C951A:p.S317S",NA,NA,NA,NA,NA,NA
chrX,125298899,125298899,G,A,R002_F,DCAF12L2,Missense_Mutation,NM_001013628,exon1,c.C1009T,p.R337C,SNP,SNVindel,exonic,DCAF12L2,NA,nonsynonymous SNV,DCAF12L2:NM_001013628:exon1:c.C1009T:p.R337C,T,N,D,T,N,T
chrX,140995604,140995604,C,A,R002_F,MAGEC1,Missense_Mutation,NM_005462,exon4,c.C2414A,p.P805H,SNP,SNVindel,exonic,MAGEC1,NA,nonsynonymous SNV,MAGEC1:NM_005462:exon4:c.C2414A:p.P805H,D,.,N,T,N,T
chr1,12387783,12387783,G,A,R002_S,VPS13D,Missense_Mutation,NM_015378,exon36,c.G8069A,p.R2690Q,SNP,SNVindel,exonic,VPS13D,NA,nonsynonymous SNV,"VPS13D:NM_015378:exon36:c.G8069A:p.R2690Q,VPS13D:NM_018156:exon36:c.G8069A:p.R2690Q",.,N,N,.,.,T
chr1,22201198,22201198,T,C,R002_S,HSPG2,Missense_Mutation,NM_001291860,exon27,c.A3442G,p.T1148A,SNP,SNVindel,exonic,HSPG2,NA,nonsynonymous SNV,"HSPG2:NM_001291860:exon27:c.A3442G:p.T1148A,HSPG2:NM_005529:exon27:c.A3439G:p.T1147A",T,N,N,T,N,T
chr1,26370805,26370805,A,G,R002_S,SLC30A2,Silent,NM_001004434,exon3,c.T402C,p.F134F,SNP,SNVindel,exonic,SLC30A2,NA,synonymous SNV,SLC30A2:NM_001004434:exon3:c.T402C:p.F134F,NA,NA,NA,NA,NA,NA
chr1,44679527,44679527,C,G,R002_S,DMAP1,Missense_Mutation,NM_019100,exon1,c.C102G,p.D34E,SNP,SNVindel,exonic,DMAP1,NA,nonsynonymous SNV,"DMAP1:NM_019100:exon1:c.C102G:p.D34E,DMAP1:NM_001034023:exon2:c.C102G:p.D34E,DMAP1:NM_001034024:exon2:c.C102G:p.D34E",T,D,D,T,N,T
chr1,152188422,152188422,A,G,R002_S,HRNR,Missense_Mutation,NM_001009931,exon3,c.T5683C,p.S1895P,SNP,SNVindel,exonic,HRNR,NA,nonsynonymous SNV,HRNR:NM_001009931:exon3:c.T5683C:p.S1895P,D,.,N,T,N,T
chr1,152281652,152281652,G,T,R002_S,FLG,Missense_Mutation,NM_002016,exon3,c.C5710A,p.Q1904K,SNP,SNVindel,exonic,FLG,NA,nonsynonymous SNV,FLG:NM_002016:exon3:c.C5710A:p.Q1904K,T,.,N,T,N,T
chr1,152284241,152284241,C,G,R002_S,FLG,Missense_Mutation,NM_002016,exon3,c.G3121C,p.A1041P,SNP,SNVindel,exonic,FLG,NA,nonsynonymous SNV,FLG:NM_002016:exon3:c.G3121C:p.A1041P,T,.,N,T,N,T
chr2,132237927,132237927,C,A,R002_S,TUBA3D,Missense_Mutation,NM_080386,exon4,c.C661A,p.R221S,SNP,SNVindel,exonic,TUBA3D,NA,nonsynonymous SNV,TUBA3D:NM_080386:exon4:c.C661A:p.R221S,.,U,D,T,D,T
chr2,179582730,179582730,A,G,R002_S,TTN,Missense_Mutation,NM_133378,exon83,c.T21271C,p.S7091P,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon83:c.T21271C:p.S7091P,TTN:NM_001256850:exon84:c.T24052C:p.S8018P,TTN:NM_001267550:exon86:c.T25003C:p.S8335P",D,.,N,T,N,T
chr2,179640850,179640850,G,A,R002_S,TTN,Missense_Mutation,NM_003319,exon27,c.C5603T,p.A1868V,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon27:c.C5603T:p.A1868V,TTN:NM_133432:exon27:c.C5603T:p.A1868V,TTN:NM_133437:exon27:c.C5603T:p.A1868V,TTN:NM_001256850:exon28:c.C5741T:p.A1914V,TTN:NM_001267550:exon28:c.C5741T:p.A1914V,TTN:NM_133378:exon28:c.C5741T:p.A1914V,TTN:NM_133379:exon28:c.C5741T:p.A1914V",D,.,D,T,D,D
chr2,186665921,186665921,A,T,R002_S,FSIP2,Missense_Mutation,NM_173651,exon17,c.A11888T,p.Q3963L,SNP,SNVindel,exonic,FSIP2,NA,nonsynonymous SNV,FSIP2:NM_173651:exon17:c.A11888T:p.Q3963L,T,.,N,T,D,T
chr2,219029099,219029099,C,T,R002_S,CXCR1,Missense_Mutation,NM_000634,exon2,c.G836A,p.R279H,SNP,SNVindel,exonic,CXCR1,NA,nonsynonymous SNV,CXCR1:NM_000634:exon2:c.G836A:p.R279H,T,N,N,T,N,T
chr3,49062387,49062387,C,T,R002_S,IMPDH2,Missense_Mutation,NM_000884,exon11,c.G1237A,p.G413S,SNP,SNVindel,exonic,IMPDH2,NA,nonsynonymous SNV,IMPDH2:NM_000884:exon11:c.G1237A:p.G413S,D,D,D,D,D,D
chr3,137484242,137484242,G,A,R002_S,SOX14,Missense_Mutation,NM_004189,exon1,c.G616A,p.A206T,SNP,SNVindel,exonic,SOX14,NA,nonsynonymous SNV,SOX14:NM_004189:exon1:c.G616A:p.A206T,D,N,D,D,N,D
chr3,179481827,179481827,G,A,R002_S,USP13,Silent,NM_003940,exon18,c.G2130A,p.G710G,SNP,SNVindel,exonic,USP13,NA,synonymous SNV,USP13:NM_003940:exon18:c.G2130A:p.G710G,NA,NA,NA,NA,NA,NA
chr3,187442853,187442853,C,T,R002_S,BCL6,Missense_Mutation,NM_001134738,exon7,c.G1685A,p.R562H,SNP,SNVindel,exonic,BCL6,NA,nonsynonymous SNV,"BCL6:NM_001134738:exon7:c.G1685A:p.R562H,BCL6:NM_001130845:exon9:c.G1853A:p.R618H,BCL6:NM_001706:exon9:c.G1853A:p.R618H",D,D,D,T,D,T
chr5,37310829,37310829,A,T,R002_S,NUP155,Missense_Mutation,NM_004298,exon23,c.T2276A,p.L759Q,SNP,SNVindel,exonic,NUP155,NA,nonsynonymous SNV,"NUP155:NM_004298:exon23:c.T2276A:p.L759Q,NUP155:NM_153485:exon23:c.T2453A:p.L818Q",D,D,D,D,D,D
chr5,40958275,40958275,T,C,R002_S,C7,Silent,NM_000587,exon11,c.T1401C,p.T467T,SNP,SNVindel,exonic,C7,NA,synonymous SNV,C7:NM_000587:exon11:c.T1401C:p.T467T,NA,NA,NA,NA,NA,NA
chr5,40958276,40958276,G,T,R002_S,C7,Missense_Mutation,NM_000587,exon11,c.G1402T,p.V468F,SNP,SNVindel,exonic,C7,NA,nonsynonymous SNV,C7:NM_000587:exon11:c.G1402T:p.V468F,D,N,D,T,D,T
chr5,67591147,67591147,C,G,R002_S,PIK3R1,Nonsense_Mutation,NM_001242466,exon6,c.C651G,p.Y217X,SNP,SNVindel,exonic,PIK3R1,NA,stopgain,"PIK3R1:NM_001242466:exon6:c.C651G:p.Y217X,PIK3R1:NM_181504:exon7:c.C930G:p.Y310X,PIK3R1:NM_181524:exon7:c.C840G:p.Y280X,PIK3R1:NM_181523:exon13:c.C1740G:p.Y580X",.,D,A,.,.,.
chr5,132150317,132150317,G,A,R002_S,SOWAHA,Missense_Mutation,NM_175873,exon1,c.G1004A,p.R335H,SNP,SNVindel,exonic,SOWAHA,NA,nonsynonymous SNV,SOWAHA:NM_175873:exon1:c.G1004A:p.R335H,D,N,N,T,N,T
chr5,140784126,140784126,A,G,R002_S,PCDHGA9,Missense_Mutation,NM_018921,exon1,c.A1607G,p.D536G,SNP,SNVindel,exonic,PCDHGA9,NA,nonsynonymous SNV,"PCDHGA9:NM_018921:exon1:c.A1607G:p.D536G,PCDHGA9:NM_032089:exon1:c.A1607G:p.D536G",.,.,D,T,.,.
chr5,162883991,162883991,G,C,R002_S,NUDCD2,Missense_Mutation,NM_001329991,exon3,c.C184G,p.P62A,SNP,SNVindel,exonic,NUDCD2,NA,nonsynonymous SNV,"NUDCD2:NM_001329991:exon3:c.C184G:p.P62A,NUDCD2:NM_145266:exon3:c.C334G:p.P112A",T,D,D,T,D,T
chr5,175958606,175958606,G,C,R002_S,RNF44,Missense_Mutation,NM_014901,exon4,c.C323G,p.S108C,SNP,SNVindel,exonic,RNF44,NA,nonsynonymous SNV,RNF44:NM_014901:exon4:c.C323G:p.S108C,D,D,D,T,D,T
chr6,7583289,7583289,C,T,R002_S,DSP,Missense_Mutation,NM_001008844,exon24,c.C3997T,p.R1333C,SNP,SNVindel,exonic,DSP,NA,nonsynonymous SNV,"DSP:NM_001008844:exon24:c.C3997T:p.R1333C,DSP:NM_001319034:exon24:c.C4465T:p.R1489C,DSP:NM_004415:exon24:c.C5794T:p.R1932C",D,D,D,T,D,T
chr6,44971476,44971476,A,G,R002_S,SUPT3H,Missense_Mutation,NM_001350327,exon5,c.T160C,p.F54L,SNP,SNVindel,exonic,SUPT3H,NA,nonsynonymous SNV,"SUPT3H:NM_001350327:exon5:c.T160C:p.F54L,SUPT3H:NM_001350324:exon6:c.T418C:p.F140L,SUPT3H:NM_001350325:exon6:c.T412C:p.F138L,SUPT3H:NM_001350329:exon6:c.T418C:p.F140L,SUPT3H:NM_003599:exon6:c.T418C:p.F140L,SUPT3H:NM_001350326:exon7:c.T355C:p.F119L,SUPT3H:NM_181356:exon8:c.T451C:p.F151L",T,N,D,T,D,T
chr6,74493432,74493432,A,C,R002_S,CD109,Missense_Mutation,NM_001159588,exon18,c.A1877C,p.Y626S,SNP,SNVindel,exonic,CD109,NA,nonsynonymous SNV,"CD109:NM_001159588:exon18:c.A1877C:p.Y626S,CD109:NM_001159587:exon19:c.A2108C:p.Y703S,CD109:NM_133493:exon19:c.A2108C:p.Y703S",T,N,P,T,N,T
chr6,110300609,110300609,G,A,R002_S,GPR6,Silent,NM_005284,exon2,c.G294A,p.A98A,SNP,SNVindel,exonic,GPR6,NA,synonymous SNV,"GPR6:NM_005284:exon2:c.G294A:p.A98A,GPR6:NM_001286099:exon3:c.G339A:p.A113A",NA,NA,NA,NA,NA,NA
chr6,158483049,158483049,C,T,R002_S,SYNJ2,Missense_Mutation,NM_001178088,exon7,c.C269T,p.A90V,SNP,SNVindel,exonic,SYNJ2,NA,nonsynonymous SNV,"SYNJ2:NM_001178088:exon7:c.C269T:p.A90V,SYNJ2:NM_003898:exon8:c.C980T:p.A327V",T,N,D,T,N,T
chr7,11151075,11151075,G,T,R002_S,PHF14,Missense_Mutation,NM_001007157,exon17,c.G2753T,p.C918F,SNP,SNVindel,exonic,PHF14,NA,nonsynonymous SNV,PHF14:NM_001007157:exon17:c.G2753T:p.C918F,NA,NA,NA,NA,NA,NA
chr7,16655513,16655513,C,T,R002_S,ANKMY2,Silent,NM_020319,exon5,c.G387A,p.V129V,SNP,SNVindel,exonic,ANKMY2,NA,synonymous SNV,ANKMY2:NM_020319:exon5:c.G387A:p.V129V,NA,NA,NA,NA,NA,NA
chr7,30088921,30088921,A,C,R002_S,PLEKHA8,Missense_Mutation,NM_001363474,exon4,c.A13C,p.N5H,SNP,SNVindel,exonic,PLEKHA8,NA,nonsynonymous SNV,"PLEKHA8:NM_001363474:exon4:c.A13C:p.N5H,PLEKHA8:NM_001197026:exon5:c.A520C:p.N174H,PLEKHA8:NM_001197027:exon5:c.A520C:p.N174H,PLEKHA8:NM_001350973:exon5:c.A520C:p.N174H,PLEKHA8:NM_001350974:exon5:c.A520C:p.N174H,PLEKHA8:NM_001363473:exon5:c.A520C:p.N174H,PLEKHA8:NM_032639:exon5:c.A520C:p.N174H",D,D,D,.,D,T
chr7,72754751,72754751,C,T,R002_S,FKBP6,Nonsense_Mutation,NM_001281304,exon5,c.C610T,p.R204X,SNP,SNVindel,exonic,FKBP6,NA,stopgain,"FKBP6:NM_001281304:exon5:c.C610T:p.R204X,FKBP6:NM_001362789:exon5:c.C565T:p.R189X,FKBP6:NM_001135211:exon6:c.C685T:p.R229X,FKBP6:NM_003602:exon6:c.C700T:p.R234X",.,N,A,.,.,.
chr7,100638923,100638923,A,T,R002_S,MUC12,Silent,NM_001164462,exon2,c.A5079T,p.P1693P,SNP,SNVindel,exonic,MUC12,NA,synonymous SNV,MUC12:NM_001164462:exon2:c.A5079T:p.P1693P,NA,NA,NA,NA,NA,NA
chr7,106508533,106508533,C,T,R002_S,PIK3CG,Missense_Mutation,NM_001282426,exon2,c.C527T,p.T176M,SNP,SNVindel,exonic,PIK3CG,NA,nonsynonymous SNV,"PIK3CG:NM_001282426:exon2:c.C527T:p.T176M,PIK3CG:NM_001282427:exon2:c.C527T:p.T176M,PIK3CG:NM_002649:exon2:c.C527T:p.T176M",T,D,D,T,N,T
chr7,144098633,144098633,C,T,R002_S,NOBOX,Missense_Mutation,NM_001080413,exon4,c.G350A,p.R117Q,SNP,SNVindel,exonic,NOBOX,NA,nonsynonymous SNV,NOBOX:NM_001080413:exon4:c.G350A:p.R117Q,T,.,N,D,N,T
chr8,6793547,6793547,C,T,R002_S,DEFA4,Missense_Mutation,NM_001925,exon3,c.G289A,p.D97N,SNP,SNVindel,exonic,DEFA4,NA,nonsynonymous SNV,DEFA4:NM_001925:exon3:c.G289A:p.D97N,D,.,N,T,N,T
chr8,57026168,57026168,G,A,R002_S,MOS,Missense_Mutation,NM_005372,exon1,c.C374T,p.T125M,SNP,SNVindel,exonic,MOS,NA,nonsynonymous SNV,MOS:NM_005372:exon1:c.C374T:p.T125M,D,D,D,T,D,T
chr8,144297329,144297329,T,C,R002_S,GPIHBP1,Missense_Mutation,NM_178172,exon4,c.T491C,p.V164A,SNP,SNVindel,exonic,GPIHBP1,NA,nonsynonymous SNV,GPIHBP1:NM_178172:exon4:c.T491C:p.V164A,.,N,N,.,.,T
chr9,71998599,71998599,A,G,R002_S,FAM189A2,Missense_Mutation,NM_001127608,exon7,c.A548G,p.K183R,SNP,SNVindel,exonic,FAM189A2,NA,nonsynonymous SNV,"FAM189A2:NM_001127608:exon7:c.A548G:p.K183R,FAM189A2:NM_001347995:exon7:c.A1007G:p.K336R,FAM189A2:NM_004816:exon7:c.A548G:p.K183R",D,D,D,T,N,T
chr9,132632803,132632803,T,C,R002_S,USP20,Missense_Mutation,NM_001008563,exon15,c.T1637C,p.F546S,SNP,SNVindel,exonic,USP20,NA,nonsynonymous SNV,"USP20:NM_001008563:exon15:c.T1637C:p.F546S,USP20:NM_001110303:exon15:c.T1637C:p.F546S,USP20:NM_006676:exon15:c.T1637C:p.F546S",D,D,D,T,D,T
chr10,105921795,105921795,G,A,R002_S,CFAP43,Missense_Mutation,NM_025145,exon26,c.C3338T,p.A1113V,SNP,SNVindel,exonic,CFAP43,NA,nonsynonymous SNV,CFAP43:NM_025145:exon26:c.C3338T:p.A1113V,T,N,N,T,N,T
chr11,12315731,12315731,G,A,R002_S,MICALCL,Silent,NM_032867,exon3,c.G753A,p.G251G,SNP,SNVindel,exonic,MICALCL,NA,synonymous SNV,MICALCL:NM_032867:exon3:c.G753A:p.G251G,NA,NA,NA,NA,NA,NA
chr11,56310138,56310138,A,T,R002_S,OR5M11,Missense_Mutation,NM_001005245,exon1,c.T596A,p.F199Y,SNP,SNVindel,exonic,OR5M11,NA,nonsynonymous SNV,OR5M11:NM_001005245:exon1:c.T596A:p.F199Y,D,.,N,T,N,T
chr11,65415125,65415125,C,T,R002_S,SIPA1,Missense_Mutation,NM_006747,exon9,c.C2302T,p.R768C,SNP,SNVindel,exonic,SIPA1,NA,nonsynonymous SNV,"SIPA1:NM_006747:exon9:c.C2302T:p.R768C,SIPA1:NM_153253:exon9:c.C2302T:p.R768C",D,U,D,D,D,D
chr11,88300912,88300912,G,A,R002_S,GRM5,Nonsense_Mutation,NM_001143831,exon7,c.C1939T,p.Q647X,SNP,SNVindel,exonic,GRM5,NA,stopgain,"GRM5:NM_001143831:exon7:c.C1939T:p.Q647X,GRM5:NM_000842:exon8:c.C1939T:p.Q647X",.,D,A,.,.,.
chr11,102482515,102482515,G,A,R002_S,MMP20,Missense_Mutation,NM_004771,exon3,c.C494T,p.A165V,SNP,SNVindel,exonic,MMP20,NA,nonsynonymous SNV,MMP20:NM_004771:exon3:c.C494T:p.A165V,D,D,D,T,D,T
chr11,111745654,111745654,G,T,R002_S,FDXACB1,Missense_Mutation,NM_138378,exon5,c.C1867A,p.P623T,SNP,SNVindel,exonic,FDXACB1,NA,nonsynonymous SNV,FDXACB1:NM_138378:exon5:c.C1867A:p.P623T,T,N,N,T,N,T
chr11,123813772,123813772,G,C,R002_S,OR6T1,Silent,NM_001005187,exon1,c.C774G,p.L258L,SNP,SNVindel,exonic,OR6T1,NA,synonymous SNV,OR6T1:NM_001005187:exon1:c.C774G:p.L258L,NA,NA,NA,NA,NA,NA
chr12,6058959,6058959,T,C,R002_S,VWF,Missense_Mutation,NM_000552,exon51,c.A8246G,p.Y2749C,SNP,SNVindel,exonic,VWF,NA,nonsynonymous SNV,VWF:NM_000552:exon51:c.A8246G:p.Y2749C,D,N,D,T,D,T
chr12,11461802,11461802,G,A,R002_S,PRB4,Nonsense_Mutation,NM_001261399,exon3,c.C115T,p.R39X,SNP,SNVindel,exonic,PRB4,NA,stopgain,"PRB4:NM_001261399:exon3:c.C115T:p.R39X,PRB4:NM_002723:exon3:c.C115T:p.R39X",.,.,P,.,.,.
chr12,21355502,21355502,G,A,R002_S,SLCO1B1,Missense_Mutation,NM_006446,exon10,c.G1213A,p.V405I,SNP,SNVindel,exonic,SLCO1B1,NA,nonsynonymous SNV,SLCO1B1:NM_006446:exon10:c.G1213A:p.V405I,T,N,N,T,N,T
chr12,67699432,67699432,A,C,R002_S,CAND1,Missense_Mutation,NM_018448,exon10,c.A1984C,p.N662H,SNP,SNVindel,exonic,CAND1,NA,nonsynonymous SNV,"CAND1:NM_018448:exon10:c.A1984C:p.N662H,CAND1:NM_001329674:exon11:c.A1912C:p.N638H,CAND1:NM_001329675:exon11:c.A1912C:p.N638H,CAND1:NM_001329676:exon11:c.A1885C:p.N629H",D,D,D,T,D,T
chr12,133358912,133358912,C,T,R002_S,GOLGA3,Silent,NM_005895,exon17,c.G3435A,p.R1145R,SNP,SNVindel,exonic,GOLGA3,NA,synonymous SNV,GOLGA3:NM_005895:exon17:c.G3435A:p.R1145R,NA,NA,NA,NA,NA,NA
chr12,133359035,133359035,C,T,R002_S,GOLGA3,Silent,NM_005895,exon17,c.G3312A,p.E1104E,SNP,SNVindel,exonic,GOLGA3,NA,synonymous SNV,GOLGA3:NM_005895:exon17:c.G3312A:p.E1104E,NA,NA,NA,NA,NA,NA
chr12,133359050,133359050,C,A,R002_S,GOLGA3,Missense_Mutation,NM_005895,exon17,c.G3297T,p.K1099N,SNP,SNVindel,exonic,GOLGA3,NA,nonsynonymous SNV,GOLGA3:NM_005895:exon17:c.G3297T:p.K1099N,T,D,D,T,N,T
chr13,103401023,103401023,C,G,R002_S,CCDC168,Missense_Mutation,NM_001146197,exon4,c.G2024C,p.S675T,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.G2024C:p.S675T,.,.,.,.,.,.
chr14,21544562,21544562,C,T,R002_S,ARHGEF40,Missense_Mutation,NM_018071,exon6,c.C1783T,p.R595C,SNP,SNVindel,exonic,ARHGEF40,NA,nonsynonymous SNV,ARHGEF40:NM_018071:exon6:c.C1783T:p.R595C,D,D,D,T,D,T
chr14,45414966,45414966,C,T,R002_S,KLHL28,Missense_Mutation,NM_001308112,exon2,c.G208A,p.V70I,SNP,SNVindel,exonic,KLHL28,NA,nonsynonymous SNV,"KLHL28:NM_001308112:exon2:c.G208A:p.V70I,KLHL28:NM_017658:exon2:c.G166A:p.V56I",T,N,N,T,N,T
chr14,99641217,99641217,G,A,R002_S,BCL11B,Silent,NM_001282238,exon3,c.C1740T,p.N580N,SNP,SNVindel,exonic,BCL11B,NA,synonymous SNV,"BCL11B:NM_001282238:exon3:c.C1740T:p.N580N,BCL11B:NM_022898:exon3:c.C1743T:p.N581N,BCL11B:NM_001282237:exon4:c.C1953T:p.N651N,BCL11B:NM_138576:exon4:c.C1956T:p.N652N",NA,NA,NA,NA,NA,NA
chr15,86125014,86125014,G,A,R002_S,AKAP13,Missense_Mutation,NM_006738,exon7,c.G3715A,p.A1239T,SNP,SNVindel,exonic,AKAP13,NA,nonsynonymous SNV,"AKAP13:NM_006738:exon7:c.G3715A:p.A1239T,AKAP13:NM_007200:exon7:c.G3715A:p.A1239T",T,.,N,T,N,T
chr16,28602117,28602117,G,A,R002_S,SGF29,Missense_Mutation,NM_138414,exon9,c.G626A,p.R209H,SNP,SNVindel,exonic,SGF29,NA,nonsynonymous SNV,SGF29:NM_138414:exon9:c.G626A:p.R209H,D,D,N,.,D,T
chr17,39383156,39383156,C,A,R002_S,KRTAP9-2,Missense_Mutation,NM_031961,exon1,c.C250A,p.P84T,SNP,SNVindel,exonic,KRTAP9-2,NA,nonsynonymous SNV,KRTAP9-2:NM_031961:exon1:c.C250A:p.P84T,T,.,N,T,N,T
chr17,39383172,39383172,C,T,R002_S,KRTAP9-2,Missense_Mutation,NM_031961,exon1,c.C266T,p.T89I,SNP,SNVindel,exonic,KRTAP9-2,NA,nonsynonymous SNV,KRTAP9-2:NM_031961:exon1:c.C266T:p.T89I,T,.,N,T,D,T
chr17,40456416,40456416,C,T,R002_S,STAT5A,Missense_Mutation,NM_001288719,exon9,c.C1136T,p.T379M,SNP,SNVindel,exonic,STAT5A,NA,nonsynonymous SNV,"STAT5A:NM_001288719:exon9:c.C1136T:p.T379M,STAT5A:NM_001288718:exon10:c.C1226T:p.T409M,STAT5A:NM_001288720:exon10:c.C1226T:p.T409M,STAT5A:NM_003152:exon11:c.C1226T:p.T409M",D,D,D,D,D,D
chr17,42451726,42451726,C,G,R002_S,ITGA2B,Missense_Mutation,NM_000419,exon29,c.G3056C,p.W1019S,SNP,SNVindel,exonic,ITGA2B,NA,nonsynonymous SNV,ITGA2B:NM_000419:exon29:c.G3056C:p.W1019S,D,N,D,T,D,T
chr18,5394760,5394760,C,T,R002_S,EPB41L3,Silent,NM_001281534,exon19,c.G2520A,p.E840E,SNP,SNVindel,exonic,EPB41L3,NA,synonymous SNV,"EPB41L3:NM_001281534:exon19:c.G2520A:p.E840E,EPB41L3:NM_001281535:exon21:c.G2193A:p.E731E,EPB41L3:NM_001330557:exon21:c.G2679A:p.E893E,EPB41L3:NM_012307:exon22:c.G3186A:p.E1062E",NA,NA,NA,NA,NA,NA
chr18,44137394,44137394,C,T,R002_S,LOXHD1,Missense_Mutation,NM_144612,exon21,c.G3275A,p.R1092H,SNP,SNVindel,exonic,LOXHD1,NA,nonsynonymous SNV,LOXHD1:NM_144612:exon21:c.G3275A:p.R1092H,D,D,D,T,D,T
chr19,8032647,8032647,C,T,R002_S,ELAVL1,Missense_Mutation,NM_001419,exon5,c.G458A,p.R153Q,SNP,SNVindel,exonic,ELAVL1,NA,nonsynonymous SNV,ELAVL1:NM_001419:exon5:c.G458A:p.R153Q,D,D,D,T,D,T
chr19,8182168,8182168,G,A,R002_S,FBN3,Silent,NM_001321431,exon28,c.C3471T,p.N1157N,SNP,SNVindel,exonic,FBN3,NA,synonymous SNV,"FBN3:NM_001321431:exon28:c.C3471T:p.N1157N,FBN3:NM_032447:exon28:c.C3471T:p.N1157N",NA,NA,NA,NA,NA,NA
chr19,14074804,14074804,C,T,R002_S,RFX1,Missense_Mutation,NM_002918,exon17,c.G2227A,p.A743T,SNP,SNVindel,exonic,RFX1,NA,nonsynonymous SNV,RFX1:NM_002918:exon17:c.G2227A:p.A743T,T,D,D,T,D,T
chr19,54745507,54745507,T,C,R002_S,LILRA6,Silent,NM_001081450,exon4,c.A603G,p.T201T,SNP,SNVindel,exonic,LILRA6;LILRB3,NA,synonymous SNV,"LILRB3:NM_001081450:exon4:c.A603G:p.T201T,LILRB3:NM_001320960:exon4:c.A603G:p.T201T,LILRA6:NM_001360167:exon4:c.A603G:p.T201T,LILRB3:NM_006864:exon4:c.A603G:p.T201T,LILRA6:NM_024318:exon4:c.A594G:p.T198T",NA,NA,NA,NA,NA,NA
chr19,54745508,54745508,G,A,R002_S,LILRA6,Missense_Mutation,NM_001081450,exon4,c.C602T,p.T201I,SNP,SNVindel,exonic,LILRA6;LILRB3,NA,nonsynonymous SNV,"LILRB3:NM_001081450:exon4:c.C602T:p.T201I,LILRB3:NM_001320960:exon4:c.C602T:p.T201I,LILRA6:NM_001360167:exon4:c.C602T:p.T201I,LILRB3:NM_006864:exon4:c.C602T:p.T201I,LILRA6:NM_024318:exon4:c.C593T:p.T198I",NA,NA,NA,NA,NA,NA
chr19,56459560,56459560,T,C,R002_S,NLRP8,Missense_Mutation,NM_001317000,exon1,c.T292C,p.W98R,SNP,SNVindel,exonic,NLRP8,NA,nonsynonymous SNV,"NLRP8:NM_001317000:exon1:c.T292C:p.W98R,NLRP8:NM_176811:exon1:c.T292C:p.W98R",D,.,N,T,D,T
chr20,257947,257947,T,C,R002_S,C20orf96,Missense_Mutation,NM_080571,exon7,c.A640G,p.M214V,SNP,SNVindel,exonic,C20orf96,NA,nonsynonymous SNV,"C20orf96:NM_080571:exon7:c.A640G:p.M214V,C20orf96:NM_153269:exon7:c.A643G:p.M215V",T,D,N,T,N,T
chr20,2378651,2378651,C,T,R002_S,TGM6,Missense_Mutation,NM_001254734,exon5,c.C631T,p.R211C,SNP,SNVindel,exonic,TGM6,NA,nonsynonymous SNV,"TGM6:NM_001254734:exon5:c.C631T:p.R211C,TGM6:NM_198994:exon5:c.C631T:p.R211C",D,D,D,D,D,D
chr20,2733055,2733055,C,G,R002_S,EBF4,Silent,NM_001110514,exon15,c.C1392G,p.P464P,SNP,SNVindel,exonic,EBF4,NA,synonymous SNV,EBF4:NM_001110514:exon15:c.C1392G:p.P464P,NA,NA,NA,NA,NA,NA
chr20,25038562,25038562,G,C,R002_S,ACSS1,Silent,NM_001252675,exon1,c.C177G,p.P59P,SNP,SNVindel,exonic,ACSS1,NA,synonymous SNV,"ACSS1:NM_001252675:exon1:c.C177G:p.P59P,ACSS1:NM_001252677:exon1:c.C177G:p.P59P,ACSS1:NM_032501:exon1:c.C177G:p.P59P",NA,NA,NA,NA,NA,NA
chr20,32250243,32250243,C,A,R002_S,C20orf144,Nonsense_Mutation,NM_080825,exon1,c.C92A,p.S31X,SNP,SNVindel,exonic,C20orf144,NA,stopgain,C20orf144:NM_080825:exon1:c.C92A:p.S31X,.,N,D,.,.,.
chr20,61942825,61942825,C,T,R002_S,COL20A1,Silent,NM_020882,exon12,c.C1473T,p.A491A,SNP,SNVindel,exonic,COL20A1,NA,synonymous SNV,COL20A1:NM_020882:exon12:c.C1473T:p.A491A,NA,NA,NA,NA,NA,NA
chrX,15306031,15306031,G,A,R002_S,ASB11,Silent,NM_001012428,exon6,c.C756T,p.S252S,SNP,SNVindel,exonic,ASB11,NA,synonymous SNV,"ASB11:NM_001012428:exon6:c.C756T:p.S252S,ASB11:NM_001201583:exon6:c.C768T:p.S256S,ASB11:NM_080873:exon6:c.C819T:p.S273S",NA,NA,NA,NA,NA,NA
chrX,27479179,27479179,G,A,R002_S,PPP4R3C,Silent,NM_207319,exon1,c.C2235T,p.D745D,SNP,SNVindel,exonic,PPP4R3C,NA,synonymous SNV,PPP4R3C:NM_207319:exon1:c.C2235T:p.D745D,NA,NA,NA,NA,NA,NA
chrX,43591036,43591036,G,T,R002_S,MAOA,Silent,NM_000240,exon8,c.G891T,p.R297R,SNP,SNVindel,exonic,MAOA,NA,synonymous SNV,"MAOA:NM_000240:exon8:c.G891T:p.R297R,MAOA:NM_001270458:exon9:c.G492T:p.R164R",NA,NA,NA,NA,NA,NA
chrX,78216968,78216968,C,A,R002_S,P2RY10,Silent,NM_198333,exon2,c.C951A,p.S317S,SNP,SNVindel,exonic,P2RY10,NA,synonymous SNV,"P2RY10:NM_198333:exon2:c.C951A:p.S317S,P2RY10:NM_001324218:exon3:c.C951A:p.S317S,P2RY10:NM_001324221:exon3:c.C1002A:p.S334S,P2RY10:NM_001324225:exon4:c.C1026A:p.S342S,P2RY10:NM_014499:exon4:c.C951A:p.S317S",NA,NA,NA,NA,NA,NA
chrX,125298899,125298899,G,A,R002_S,DCAF12L2,Missense_Mutation,NM_001013628,exon1,c.C1009T,p.R337C,SNP,SNVindel,exonic,DCAF12L2,NA,nonsynonymous SNV,DCAF12L2:NM_001013628:exon1:c.C1009T:p.R337C,T,N,D,T,N,T
chrX,140995604,140995604,C,A,R002_S,MAGEC1,Missense_Mutation,NM_005462,exon4,c.C2414A,p.P805H,SNP,SNVindel,exonic,MAGEC1,NA,nonsynonymous SNV,MAGEC1:NM_005462:exon4:c.C2414A:p.P805H,D,.,N,T,N,T
chr1,36307241,36307241,A,G,R003_F,AGO4,Missense_Mutation,NM_017629,exon15,c.A2065G,p.I689V,SNP,SNVindel,exonic,AGO4,NA,nonsynonymous SNV,AGO4:NM_017629:exon15:c.A2065G:p.I689V,D,D,D,T,N,T
chr1,43692728,43692728,A,C,R003_F,CFAP57,Silent,NM_001195831,exon18,c.A2940C,p.I980I,SNP,SNVindel,exonic,CFAP57,NA,synonymous SNV,CFAP57:NM_001195831:exon18:c.A2940C:p.I980I,NA,NA,NA,NA,NA,NA
chr1,148010972,148010972,A,G,R003_F,NBPF19,Silent,NM_001351372,exon24,c.T3120C,p.C1040C,SNP,SNVindel,exonic,NBPF19;NBPF26,NA,synonymous SNV,NBPF26:NM_001351372:exon24:c.T3120C:p.C1040C,NA,NA,NA,NA,NA,NA
chr1,152127391,152127391,T,C,R003_F,RPTN,Silent,NM_001122965,exon3,c.A2184G,p.T728T,SNP,SNVindel,exonic,RPTN,NA,synonymous SNV,RPTN:NM_001122965:exon3:c.A2184G:p.T728T,NA,NA,NA,NA,NA,NA
chr1,169581490,169581490,G,A,R003_F,SELP,Missense_Mutation,NM_003005,exon6,c.C926T,p.S309L,SNP,SNVindel,exonic,SELP,NA,nonsynonymous SNV,SELP:NM_003005:exon6:c.C926T:p.S309L,T,N,N,T,D,T
chr1,248112754,248112754,T,C,R003_F,OR2L8,Missense_Mutation,NM_001001963,exon1,c.T595C,p.F199L,SNP,SNVindel,exonic,OR2L8,NA,nonsynonymous SNV,OR2L8:NM_001001963:exon1:c.T595C:p.F199L,T,U,N,T,D,T
chr2,1480882,1480882,G,A,R003_F,TPO,Missense_Mutation,NM_175721,exon7,c.G844A,p.A282T,SNP,SNVindel,exonic,TPO,NA,nonsynonymous SNV,"TPO:NM_175721:exon7:c.G844A:p.A282T,TPO:NM_000547:exon8:c.G844A:p.A282T,TPO:NM_001206744:exon8:c.G844A:p.A282T,TPO:NM_001206745:exon8:c.G844A:p.A282T,TPO:NM_175719:exon8:c.G844A:p.A282T",T,N,N,T,N,T
chr2,30980990,30980990,C,T,R003_F,CAPN13,Missense_Mutation,NM_144575,exon8,c.G788A,p.R263K,SNP,SNVindel,exonic,CAPN13,NA,nonsynonymous SNV,CAPN13:NM_144575:exon8:c.G788A:p.R263K,T,N,N,T,N,T
chr2,74273474,74273474,G,A,R003_F,TET3,Missense_Mutation,NM_001366022,exon3,c.G151A,p.G51R,SNP,SNVindel,exonic,TET3,NA,nonsynonymous SNV,"TET3:NM_001366022:exon3:c.G151A:p.G51R,TET3:NM_001287491:exon4:c.G430A:p.G144R",D,.,D,T,N,T
chr2,132236963,132236963,C,T,R003_F,TUBA3D,Silent,NM_080386,exon3,c.C309T,p.Y103Y,SNP,SNVindel,exonic,TUBA3D,NA,synonymous SNV,TUBA3D:NM_080386:exon3:c.C309T:p.Y103Y,NA,NA,NA,NA,NA,NA
chr2,192288648,192288648,C,T,R003_F,MYO1B,Nonsense_Mutation,NM_012223,exon29,c.C3199T,p.R1067X,SNP,SNVindel,exonic,MYO1B,NA,stopgain,"MYO1B:NM_012223:exon29:c.C3199T:p.R1067X,MYO1B:NM_001330237:exon30:c.C3286T:p.R1096X,MYO1B:NM_001330238:exon30:c.C3286T:p.R1096X,MYO1B:NM_001130158:exon31:c.C3373T:p.R1125X,MYO1B:NM_001161819:exon31:c.C3373T:p.R1125X",.,D,D,.,.,.
chr2,207169951,207169951,G,C,R003_F,ZDBF2,Silent,NM_020923,exon5,c.G699C,p.G233G,SNP,SNVindel,exonic,ZDBF2,NA,synonymous SNV,"ZDBF2:NM_020923:exon5:c.G699C:p.G233G,ZDBF2:NM_001369654:exon6:c.G699C:p.G233G,ZDBF2:NM_001285549:exon7:c.G693C:p.G231G",NA,NA,NA,NA,NA,NA
chr2,210696284,210696284,C,T,R003_F,UNC80,Missense_Mutation,NM_032504,exon16,c.C2744T,p.T915I,SNP,SNVindel,exonic,UNC80,NA,nonsynonymous SNV,"UNC80:NM_032504:exon16:c.C2744T:p.T915I,UNC80:NM_182587:exon16:c.C2729T:p.T910I",T,D,D,T,N,T
chr2,232011008,232011008,C,G,R003_F,PSMD1,Missense_Mutation,NM_001191037,exon18,c.C2053G,p.Q685E,SNP,SNVindel,exonic,PSMD1,NA,nonsynonymous SNV,"PSMD1:NM_001191037:exon18:c.C2053G:p.Q685E,PSMD1:NM_002807:exon18:c.C2053G:p.Q685E",D,D,D,T,D,T
chr3,195505762,195505762,A,G,R003_F,MUC4,Missense_Mutation,NM_018406,exon2,c.T12689C,p.L4230P,SNP,SNVindel,exonic,MUC4,NA,nonsynonymous SNV,MUC4:NM_018406:exon2:c.T12689C:p.L4230P,T,.,N,T,N,T
chr4,1808372,1808372,C,A,R003_F,FGFR3,Missense_Mutation,NM_001354810,exon15,c.C2062A,p.P688T,SNP,SNVindel,exonic,FGFR3,NA,nonsynonymous SNV,FGFR3:NM_001354810:exon15:c.C2062A:p.P688T,D,D,D,D,N,T
chr4,123192830,123192830,C,T,R003_F,KIAA1109,Silent,NM_015312,exon45,c.C8151T,p.S2717S,SNP,SNVindel,exonic,KIAA1109,NA,synonymous SNV,KIAA1109:NM_015312:exon45:c.C8151T:p.S2717S,NA,NA,NA,NA,NA,NA
chr4,146044706,146044706,G,A,R003_F,ABCE1,Missense_Mutation,NM_001040876,exon16,c.G1594A,p.V532I,SNP,SNVindel,exonic,ABCE1,NA,nonsynonymous SNV,"ABCE1:NM_001040876:exon16:c.G1594A:p.V532I,ABCE1:NM_002940:exon16:c.G1594A:p.V532I",T,D,D,D,N,D
chr5,7878119,7878119,G,A,R003_F,MTRR,Missense_Mutation,NM_001364440,exon5,c.G464A,p.R155K,SNP,SNVindel,exonic,MTRR,NA,nonsynonymous SNV,"MTRR:NM_001364440:exon5:c.G464A:p.R155K,MTRR:NM_001364441:exon5:c.G464A:p.R155K,MTRR:NM_001364442:exon5:c.G464A:p.R155K,MTRR:NM_002454:exon5:c.G464A:p.R155K,MTRR:NM_024010:exon5:c.G464A:p.R155K",T,N,N,T,N,T
chr5,40854527,40854527,G,A,R003_F,CARD6,Silent,NM_032587,exon3,c.G3093A,p.Q1031Q,SNP,SNVindel,exonic,CARD6,NA,synonymous SNV,CARD6:NM_032587:exon3:c.G3093A:p.Q1031Q,NA,NA,NA,NA,NA,NA
chr5,59940656,59940656,C,T,R003_F,DEPDC1B,Missense_Mutation,NM_001145208,exon5,c.G625A,p.V209I,SNP,SNVindel,exonic,DEPDC1B,NA,nonsynonymous SNV,"DEPDC1B:NM_001145208:exon5:c.G625A:p.V209I,DEPDC1B:NM_018369:exon5:c.G625A:p.V209I",T,N,N,T,N,T
chr5,180055982,180055982,C,T,R003_F,FLT4,Missense_Mutation,NM_001354989,exon8,c.G1003A,p.V335I,SNP,SNVindel,exonic,FLT4,NA,nonsynonymous SNV,"FLT4:NM_001354989:exon8:c.G1003A:p.V335I,FLT4:NM_002020:exon8:c.G1003A:p.V335I,FLT4:NM_182925:exon8:c.G1003A:p.V335I",T,.,D,T,N,T
chr6,70897860,70897860,G,A,R003_F,COL19A1,Missense_Mutation,NM_001858,exon47,c.G2938A,p.G980S,SNP,SNVindel,exonic,COL19A1,NA,nonsynonymous SNV,COL19A1:NM_001858:exon47:c.G2938A:p.G980S,.,D,D,.,.,D
chr7,31378577,31378577,G,A,R003_F,NEUROD6,Silent,NM_022728,exon2,c.C306T,p.R102R,SNP,SNVindel,exonic,NEUROD6,NA,synonymous SNV,NEUROD6:NM_022728:exon2:c.C306T:p.R102R,NA,NA,NA,NA,NA,NA
chr7,44575895,44575895,C,T,R003_F,NPC1L1,Missense_Mutation,NM_001101648,exon4,c.G1814A,p.R605H,SNP,SNVindel,exonic,NPC1L1,NA,nonsynonymous SNV,"NPC1L1:NM_001101648:exon4:c.G1814A:p.R605H,NPC1L1:NM_001300967:exon4:c.G1814A:p.R605H,NPC1L1:NM_013389:exon4:c.G1814A:p.R605H",D,N,N,D,N,T
chr7,101892205,101892205,C,T,R003_F,CUX1,Silent,NM_001202543,exon24,c.C4434T,p.G1478G,SNP,SNVindel,exonic,CUX1,NA,synonymous SNV,"CUX1:NM_001202543:exon24:c.C4434T:p.G1478G,CUX1:NM_181552:exon24:c.C4401T:p.G1467G",NA,NA,NA,NA,NA,NA
chr7,112407762,112407762,C,T,R003_F,TMEM168,Nonsense_Mutation,NM_022484,exon5,c.G1584A,p.W528X,SNP,SNVindel,exonic,TMEM168,NA,stopgain,"TMEM168:NM_022484:exon5:c.G1584A:p.W528X,TMEM168:NM_001287497:exon6:c.G1584A:p.W528X",.,D,D,.,.,.
chr8,106814838,106814838,C,T,R003_F,ZFPM2,Missense_Mutation,NM_001362836,exon7,c.C2369T,p.T790M,SNP,SNVindel,exonic,ZFPM2,NA,nonsynonymous SNV,"ZFPM2:NM_001362836:exon7:c.C2369T:p.T790M,ZFPM2:NM_001362837:exon8:c.C2132T:p.T711M,ZFPM2:NM_012082:exon8:c.C2528T:p.T843M",D,N,D,T,N,T
chr8,142367067,142367067,C,T,R003_F,GPR20,Silent,NM_005293,exon2,c.G957A,p.E319E,SNP,SNVindel,exonic,GPR20,NA,synonymous SNV,GPR20:NM_005293:exon2:c.G957A:p.E319E,NA,NA,NA,NA,NA,NA
chr9,25677725,25677725,C,T,R003_F,TUSC1,Missense_Mutation,NM_001004125,exon1,c.G595A,p.G199S,SNP,SNVindel,exonic,TUSC1,NA,nonsynonymous SNV,TUSC1:NM_001004125:exon1:c.G595A:p.G199S,D,U,N,T,N,T
chr9,32635412,32635412,C,T,R003_F,TAF1L,Missense_Mutation,NM_153809,exon1,c.G166A,p.V56I,SNP,SNVindel,exonic,TAF1L,NA,nonsynonymous SNV,TAF1L:NM_153809:exon1:c.G166A:p.V56I,T,D,N,T,N,T
chr9,71155617,71155617,C,T,R003_F,TMEM252,Silent,NM_153237,exon1,c.G114A,p.G38G,SNP,SNVindel,exonic,TMEM252,NA,synonymous SNV,TMEM252:NM_153237:exon1:c.G114A:p.G38G,NA,NA,NA,NA,NA,NA
chr9,125288888,125288888,G,A,R003_F,OR1N1,Missense_Mutation,NM_012363,exon1,c.C685T,p.R229C,SNP,SNVindel,exonic,OR1N1,NA,nonsynonymous SNV,OR1N1:NM_012363:exon1:c.C685T:p.R229C,D,U,N,T,N,T
chr11,48373865,48373865,G,T,R003_F,OR4C45,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,OR4C45,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,48373866,48373866,A,T,R003_F,OR4C45,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,OR4C45,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,93800820,93800820,G,A,R003_F,HEPHL1,Missense_Mutation,NM_001098672,exon5,c.G967A,p.V323I,SNP,SNVindel,exonic,HEPHL1,NA,nonsynonymous SNV,HEPHL1:NM_001098672:exon5:c.G967A:p.V323I,T,D,N,D,N,D
chr11,102826331,102826331,T,C,R003_F,MMP13,Missense_Mutation,NM_002427,exon1,c.A104G,p.D35G,SNP,SNVindel,exonic,MMP13,NA,nonsynonymous SNV,MMP13:NM_002427:exon1:c.A104G:p.D35G,D,N,D,T,D,T
chr12,16704202,16704202,T,C,R003_F,LMO3,Missense_Mutation,NM_001001395,exon4,c.A392G,p.Y131C,SNP,SNVindel,exonic,LMO3,NA,nonsynonymous SNV,"LMO3:NM_001001395:exon4:c.A392G:p.Y131C,LMO3:NM_001243611:exon4:c.A425G:p.Y142C,LMO3:NM_001243612:exon4:c.A446G:p.Y149C,LMO3:NM_018640:exon4:c.A392G:p.Y131C,LMO3:NM_001243609:exon5:c.A392G:p.Y131C,LMO3:NM_001243610:exon5:c.A392G:p.Y131C,LMO3:NM_001243613:exon6:c.A458G:p.Y153C",D,D,D,D,D,D
chr13,113783899,113783899,C,T,R003_F,F10,Silent,NM_000504,exon2,c.C204T,p.R68R,SNP,SNVindel,exonic,F10,NA,synonymous SNV,"F10:NM_000504:exon2:c.C204T:p.R68R,F10:NM_001312674:exon2:c.C204T:p.R68R,F10:NM_001312675:exon2:c.C204T:p.R68R",NA,NA,NA,NA,NA,NA
chr14,38281591,38281591,C,G,R003_F,TTC6,Missense_Mutation,NM_001368142,exon7,c.C544G,p.R182G,SNP,SNVindel,exonic,TTC6,NA,nonsynonymous SNV,"TTC6:NM_001368142:exon7:c.C544G:p.R182G,TTC6:NM_001310135:exon27:c.C4690G:p.R1564G",D,D,.,T,D,D
chr15,30700159,30700159,A,G,R003_F,GOLGA8R,Missense_Mutation,NM_001282484,exon11,c.T823C,p.W275R,SNP,SNVindel,exonic,GOLGA8R,NA,nonsynonymous SNV,GOLGA8R:NM_001282484:exon11:c.T823C:p.W275R,T,.,.,T,N,T
chr15,94857568,94857568,C,T,R003_F,MCTP2,Nonsense_Mutation,NM_001159643,exon2,c.C523T,p.Q175X,SNP,SNVindel,exonic,MCTP2,NA,stopgain,"MCTP2:NM_001159643:exon2:c.C523T:p.Q175X,MCTP2:NM_018349:exon2:c.C523T:p.Q175X",.,N,A,.,.,.
chr16,52473512,52473512,T,C,R003_F,TOX3,Silent,NM_001080430,exon7,c.A1356G,p.Q452Q,SNP,SNVindel,exonic,TOX3,NA,synonymous SNV,"TOX3:NM_001080430:exon7:c.A1356G:p.Q452Q,TOX3:NM_001146188:exon8:c.A1341G:p.Q447Q",NA,NA,NA,NA,NA,NA
chr17,6555424,6555424,T,C,R003_F,C17orf100,Missense_Mutation,NM_001105520,exon1,c.T191C,p.L64P,SNP,SNVindel,exonic,C17orf100,NA,nonsynonymous SNV,C17orf100:NM_001105520:exon1:c.T191C:p.L64P,.,.,D,.,.,T
chr17,38936614,38936614,G,A,R003_F,KRT27,Silent,NM_181537,exon3,c.C622T,p.L208L,SNP,SNVindel,exonic,KRT27,NA,synonymous SNV,KRT27:NM_181537:exon3:c.C622T:p.L208L,NA,NA,NA,NA,NA,NA
chr18,18981150,18981150,T,A,R003_F,GREB1L,Missense_Mutation,NM_001142966,exon6,c.T572A,p.F191Y,SNP,SNVindel,exonic,GREB1L,NA,nonsynonymous SNV,GREB1L:NM_001142966:exon6:c.T572A:p.F191Y,D,.,D,T,N,T
chr19,3816818,3816818,G,A,R003_F,ZFR2,Silent,NM_015174,exon13,c.C1957T,p.L653L,SNP,SNVindel,exonic,ZFR2,NA,synonymous SNV,ZFR2:NM_015174:exon13:c.C1957T:p.L653L,NA,NA,NA,NA,NA,NA
chr19,6677901,6677901,G,A,R003_F,C3,Missense_Mutation,NM_000064,exon41,c.C4984T,p.P1662S,SNP,SNVindel,exonic,C3,NA,nonsynonymous SNV,C3:NM_000064:exon41:c.C4984T:p.P1662S,T,U,D,T,D,T
chr19,8966693,8966693,C,T,R003_F,MUC16,Silent,NM_024690,exon81,c.G43260A,p.Q14420Q,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon81:c.G43260A:p.Q14420Q,NA,NA,NA,NA,NA,NA
chr19,12502070,12502070,C,T,R003_F,ZNF799,Missense_Mutation,NM_001080821,exon4,c.G1142A,p.R381Q,SNP,SNVindel,exonic,ZNF799,NA,nonsynonymous SNV,"ZNF799:NM_001080821:exon4:c.G1142A:p.R381Q,ZNF799:NM_001322497:exon4:c.G1046A:p.R349Q,ZNF799:NM_001322498:exon5:c.G1046A:p.R349Q",T,.,N,T,N,T
chr19,30936570,30936570,G,A,R003_F,ZNF536,Missense_Mutation,NM_001352260,exon2,c.G2101A,p.G701R,SNP,SNVindel,exonic,ZNF536,NA,nonsynonymous SNV,"ZNF536:NM_001352260:exon2:c.G2101A:p.G701R,ZNF536:NM_014717:exon2:c.G2101A:p.G701R",D,D,D,T,N,T
chr19,39819703,39819703,C,T,R003_F,GMFG,Silent,NM_001301008,exon5,c.G171A,p.P57P,SNP,SNVindel,exonic,GMFG,NA,synonymous SNV,"GMFG:NM_001301008:exon5:c.G171A:p.P57P,GMFG:NM_004877:exon6:c.G294A:p.P98P",.,.,D,.,.,.
chr19,47259006,47259006,G,A,R003_F,FKRP,Missense_Mutation,NM_001039885,exon4,c.G299A,p.R100H,SNP,SNVindel,exonic,FKRP,NA,nonsynonymous SNV,"FKRP:NM_001039885:exon4:c.G299A:p.R100H,FKRP:NM_024301:exon4:c.G299A:p.R100H",T,D,D,D,N,D
chr19,55525787,55525787,G,A,R003_F,GP6,Missense_Mutation,NM_001083899,exon8,c.C1526T,p.T509M,SNP,SNVindel,exonic,GP6,NA,nonsynonymous SNV,GP6:NM_001083899:exon8:c.C1526T:p.T509M,D,.,N,T,N,T
chr19,55672723,55672723,T,C,R003_F,DNAAF3,Missense_Mutation,NM_001256714,exon7,c.A931G,p.R311G,SNP,SNVindel,exonic,DNAAF3,NA,nonsynonymous SNV,"DNAAF3:NM_001256714:exon7:c.A931G:p.R311G,DNAAF3:NM_001256715:exon7:c.A727G:p.R243G,DNAAF3:NM_001256716:exon7:c.A565G:p.R189G,DNAAF3:NM_178837:exon7:c.A868G:p.R290G",D,D,D,T,D,T
chr20,36759618,36759618,G,C,R003_F,TGM2,Missense_Mutation,NM_001323317,exon11,c.C1547G,p.P516R,SNP,SNVindel,exonic,TGM2,NA,nonsynonymous SNV,"TGM2:NM_001323317:exon11:c.C1547G:p.P516R,TGM2:NM_001323318:exon11:c.C1610G:p.P537R,TGM2:NM_004613:exon12:c.C1790G:p.P597R,TGM2:NM_001323316:exon13:c.C1790G:p.P597R",D,N,D,T,D,T
chr20,42693489,42693489,G,A,R003_F,TOX2,Missense_Mutation,NM_001098796,exon6,c.G826A,p.V276I,SNP,SNVindel,exonic,TOX2,NA,nonsynonymous SNV,"TOX2:NM_001098796:exon6:c.G826A:p.V276I,TOX2:NM_001098797:exon6:c.G952A:p.V318I,TOX2:NM_032883:exon7:c.G826A:p.V276I",T,N,D,T,N,T
chr2,132236963,132236963,C,T,R003_S,TUBA3D,Silent,NM_080386,exon3,c.C309T,p.Y103Y,SNP,SNVindel,exonic,TUBA3D,NA,synonymous SNV,TUBA3D:NM_080386:exon3:c.C309T:p.Y103Y,NA,NA,NA,NA,NA,NA
chr4,103681945,103681945,C,T,R003_S,MANBA,Missense_Mutation,NM_005908,exon1,c.G107A,p.G36D,SNP,SNVindel,exonic,MANBA,NA,nonsynonymous SNV,MANBA:NM_005908:exon1:c.G107A:p.G36D,D,N,N,T,N,T
chr5,140789690,140789690,C,A,R003_S,PCDHGB6,Missense_Mutation,NM_018926,exon1,c.C1921A,p.R641S,SNP,SNVindel,exonic,PCDHGB6,NA,nonsynonymous SNV,"PCDHGB6:NM_018926:exon1:c.C1921A:p.R641S,PCDHGB6:NM_032100:exon1:c.C1921A:p.R641S",T,.,D,T,D,T
chr6,4032839,4032839,C,G,R003_S,PRPF4B,Nonsense_Mutation,NM_003913,exon2,c.C1088G,p.S363X,SNP,SNVindel,exonic,PRPF4B,NA,stopgain,PRPF4B:NM_003913:exon2:c.C1088G:p.S363X,.,N,A,.,.,.
chr7,100875997,100875997,C,A,R003_S,CLDN15,Nonsense_Mutation,NM_014343,exon4,c.G469T,p.E157X,SNP,SNVindel,exonic,CLDN15,NA,stopgain,"CLDN15:NM_014343:exon4:c.G469T:p.E157X,CLDN15:NM_001185080:exon5:c.G469T:p.E157X",.,N,A,.,.,.
chr9,112020459,112020459,G,T,R003_S,EPB41L4B,Nonsense_Mutation,NM_018424,exon7,c.C750A,p.C250X,SNP,SNVindel,exonic,EPB41L4B,NA,stopgain,"EPB41L4B:NM_018424:exon7:c.C750A:p.C250X,EPB41L4B:NM_019114:exon7:c.C750A:p.C250X",.,N,A,.,.,.
chr9,113259131,113259131,C,A,R003_S,SVEP1,Missense_Mutation,NM_153366,exon8,c.G1764T,p.W588C,SNP,SNVindel,exonic,SVEP1,NA,nonsynonymous SNV,SVEP1:NM_153366:exon8:c.G1764T:p.W588C,D,D,D,T,D,T
chr9,137648648,137648648,G,C,R003_S,COL5A1,Missense_Mutation,NM_000093,exon17,c.G1865C,p.G622A,SNP,SNVindel,exonic,COL5A1,NA,nonsynonymous SNV,"COL5A1:NM_000093:exon17:c.G1865C:p.G622A,COL5A1:NM_001278074:exon17:c.G1865C:p.G622A",D,U,D,D,D,D
chr11,1651234,1651234,G,T,R003_S,KRTAP5-5,Missense_Mutation,NM_001001480,exon1,c.G164T,p.C55F,SNP,SNVindel,exonic,KRTAP5-5,NA,nonsynonymous SNV,KRTAP5-5:NM_001001480:exon1:c.G164T:p.C55F,D,.,N,T,N,T
chr11,45204618,45204618,C,A,R003_S,PRDM11,Missense_Mutation,NM_001256695,exon4,c.C430A,p.P144T,SNP,SNVindel,exonic,PRDM11,NA,nonsynonymous SNV,"PRDM11:NM_001256695:exon4:c.C430A:p.P144T,PRDM11:NM_001256696:exon4:c.C430A:p.P144T,PRDM11:NM_001359633:exon5:c.C532A:p.P178T",D,D,D,T,D,D
chr12,102512257,102512257,C,A,R003_S,NUP37,Missense_Mutation,NM_024057,exon2,c.G40T,p.D14Y,SNP,SNVindel,exonic,NUP37,NA,nonsynonymous SNV,NUP37:NM_024057:exon2:c.G40T:p.D14Y,D,D,D,T,N,T
chr13,113803450,113803450,C,A,R003_S,F10,Missense_Mutation,NM_001312674,exon7,c.C954A,p.S318R,SNP,SNVindel,exonic,F10,NA,nonsynonymous SNV,"F10:NM_001312674:exon7:c.C954A:p.S318R,F10:NM_000504:exon8:c.C1086A:p.S362R",D,D,D,D,D,D
chr15,65275856,65275856,G,T,R003_S,SPG21,Missense_Mutation,NM_001127889,exon2,c.C52A,p.P18T,SNP,SNVindel,exonic,SPG21,NA,nonsynonymous SNV,"SPG21:NM_001127889:exon2:c.C52A:p.P18T,SPG21:NM_001127890:exon2:c.C52A:p.P18T,SPG21:NM_016630:exon2:c.C52A:p.P18T",D,D,D,.,D,T
chr1,12416477,12416477,G,C,R004_F,VPS13D,Missense_Mutation,NM_018156,exon48,c.G9819C,p.Q3273H,SNP,SNVindel,exonic,VPS13D,NA,nonsynonymous SNV,"VPS13D:NM_018156:exon48:c.G9819C:p.Q3273H,VPS13D:NM_015378:exon49:c.G9894C:p.Q3298H",.,D,D,.,.,T
chr1,44064447,44064447,C,A,R004_F,PTPRF,Missense_Mutation,NM_001329139,exon12,c.C1870A,p.H624N,SNP,SNVindel,exonic,PTPRF,NA,nonsynonymous SNV,"PTPRF:NM_001329139:exon12:c.C1870A:p.H624N,PTPRF:NM_001329140:exon12:c.C1870A:p.H624N,PTPRF:NM_002840:exon13:c.C2176A:p.H726N,PTPRF:NM_130440:exon13:c.C2176A:p.H726N,PTPRF:NM_001329137:exon14:c.C1888A:p.H630N,PTPRF:NM_001329138:exon15:c.C1900A:p.H634N",D,N,N,T,N,T
chr1,75055472,75055472,C,A,R004_F,ERICH3,Silent,NM_001002912,exon12,c.G2019T,p.T673T,SNP,SNVindel,exonic,ERICH3,NA,synonymous SNV,ERICH3:NM_001002912:exon12:c.G2019T:p.T673T,NA,NA,NA,NA,NA,NA
chr1,93070864,93070864,C,G,R004_F,EVI5,Missense_Mutation,NM_005665,exon16,c.G2022C,p.Q674H,SNP,SNVindel,exonic,EVI5,NA,nonsynonymous SNV,"EVI5:NM_005665:exon16:c.G2022C:p.Q674H,EVI5:NM_001308248:exon17:c.G2055C:p.Q685H,EVI5:NM_001350197:exon18:c.G2070C:p.Q690H,EVI5:NM_001350198:exon18:c.G2070C:p.Q690H",D,D,D,T,D,T
chr1,186089202,186089202,G,A,R004_F,HMCN1,Missense_Mutation,NM_031935,exon80,c.G12154A,p.D4052N,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon80:c.G12154A:p.D4052N,D,D,D,T,D,D
chr1,205273398,205273398,T,A,R004_F,NUAK2,Missense_Mutation,NM_030952,exon7,c.A1067T,p.Q356L,SNP,SNVindel,exonic,NUAK2,NA,nonsynonymous SNV,NUAK2:NM_030952:exon7:c.A1067T:p.Q356L,D,D,D,T,N,T
chr2,74136261,74136261,C,T,R004_F,ACTG2,Missense_Mutation,NM_001199893,exon4,c.C317T,p.T106M,SNP,SNVindel,exonic,ACTG2,NA,nonsynonymous SNV,"ACTG2:NM_001199893:exon4:c.C317T:p.T106M,ACTG2:NM_001615:exon5:c.C446T:p.T149M",.,D,D,D,D,D
chr2,135744137,135744137,T,G,R004_F,MAP3K19,Missense_Mutation,NM_001018044,exon5,c.A1966C,p.I656L,SNP,SNVindel,exonic,MAP3K19,NA,nonsynonymous SNV,"MAP3K19:NM_001018044:exon5:c.A1966C:p.I656L,MAP3K19:NM_001321177:exon7:c.A2356C:p.I786L,MAP3K19:NM_025052:exon7:c.A2305C:p.I769L",D,N,N,T,N,T
chr2,219611870,219611870,C,T,R004_F,TTLL4,Missense_Mutation,NM_014640,exon9,c.C2119T,p.R707C,SNP,SNVindel,exonic,TTLL4,NA,nonsynonymous SNV,TTLL4:NM_014640:exon9:c.C2119T:p.R707C,T,D,D,T,D,T
chr2,239177587,239177587,C,T,R004_F,PER2,Silent,NM_022817,exon7,c.G801A,p.E267E,SNP,SNVindel,exonic,PER2,NA,synonymous SNV,PER2:NM_022817:exon7:c.G801A:p.E267E,NA,NA,NA,NA,NA,NA
chr3,111342669,111342669,C,T,R004_F,CD96,Missense_Mutation,NM_005816,exon9,c.C1249T,p.P417S,SNP,SNVindel,exonic,CD96,NA,nonsynonymous SNV,"CD96:NM_005816:exon9:c.C1249T:p.P417S,CD96:NM_198196:exon10:c.C1297T:p.P433S",T,N,N,T,N,T
chr3,178922328,178922328,C,G,R004_F,PIK3CA,Missense_Mutation,NM_006218,exon6,c.C1097G,p.P366R,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon6:c.C1097G:p.P366R,D,D,D,T,N,T
chr3,190373698,190373698,G,T,R004_F,IL1RAP,Missense_Mutation,NM_001364879,exon11,c.G1366T,p.D456Y,SNP,SNVindel,exonic,IL1RAP,NA,nonsynonymous SNV,"IL1RAP:NM_001364879:exon11:c.G1366T:p.D456Y,IL1RAP:NM_001167931:exon12:c.G1366T:p.D456Y",D,.,N,T,N,T
chr4,69968598,69968598,A,G,R004_F,UGT2B7,Missense_Mutation,NM_001074,exon3,c.A944G,p.N315S,SNP,SNVindel,exonic,UGT2B7,NA,nonsynonymous SNV,"UGT2B7:NM_001074:exon3:c.A944G:p.N315S,UGT2B7:NM_001330719:exon3:c.A944G:p.N315S,UGT2B7:NM_001349568:exon4:c.A197G:p.N66S",D,U,N,T,D,T
chr4,177609001,177609001,A,G,R004_F,VEGFC,Missense_Mutation,NM_005429,exon5,c.T785C,p.F262S,SNP,SNVindel,exonic,VEGFC,NA,nonsynonymous SNV,VEGFC:NM_005429:exon5:c.T785C:p.F262S,.,D,D,.,.,T
chr5,32089286,32089286,C,T,R004_F,PDZD2,Missense_Mutation,NM_178140,exon20,c.C5732T,p.T1911M,SNP,SNVindel,exonic,PDZD2,NA,nonsynonymous SNV,PDZD2:NM_178140:exon20:c.C5732T:p.T1911M,T,N,N,T,N,T
chr5,180056302,180056302,G,A,R004_F,FLT4,Silent,NM_001354989,exon7,c.C942T,p.N314N,SNP,SNVindel,exonic,FLT4,NA,synonymous SNV,"FLT4:NM_001354989:exon7:c.C942T:p.N314N,FLT4:NM_002020:exon7:c.C942T:p.N314N,FLT4:NM_182925:exon7:c.C942T:p.N314N",NA,NA,NA,NA,NA,NA
chr6,123594112,123594112,G,C,R004_F,TRDN,Missense_Mutation,NM_006073,exon29,c.C1669G,p.P557A,SNP,SNVindel,exonic,TRDN,NA,nonsynonymous SNV,TRDN:NM_006073:exon29:c.C1669G:p.P557A,D,N,N,T,N,T
chr6,151144807,151144807,C,T,R004_F,PLEKHG1,Nonsense_Mutation,NM_001329803,exon12,c.C1348T,p.Q450X,SNP,SNVindel,exonic,PLEKHG1,NA,stopgain,"PLEKHG1:NM_001329803:exon12:c.C1348T:p.Q450X,PLEKHG1:NM_001329802:exon13:c.C1426T:p.Q476X,PLEKHG1:NM_001329798:exon14:c.C1642T:p.Q548X,PLEKHG1:NM_001329799:exon14:c.C1585T:p.Q529X,PLEKHG1:NM_001329800:exon14:c.C1465T:p.Q489X,PLEKHG1:NM_001329801:exon14:c.C1465T:p.Q489X,PLEKHG1:NM_001329806:exon14:c.C1465T:p.Q489X,PLEKHG1:NM_001029884:exon15:c.C1465T:p.Q489X,PLEKHG1:NM_001329805:exon15:c.C1465T:p.Q489X,PLEKHG1:NM_001329804:exon16:c.C1465T:p.Q489X",.,N,A,.,.,.
chr8,25224451,25224451,C,A,R004_F,DOCK5,Silent,NM_024940,exon31,c.C3189A,p.T1063T,SNP,SNVindel,exonic,DOCK5,NA,synonymous SNV,DOCK5:NM_024940:exon31:c.C3189A:p.T1063T,NA,NA,NA,NA,NA,NA
chr8,145736238,145736238,C,T,R004_F,MFSD3,Silent,NM_138431,exon4,c.C1017T,p.T339T,SNP,SNVindel,exonic,MFSD3,NA,synonymous SNV,MFSD3:NM_138431:exon4:c.C1017T:p.T339T,NA,NA,NA,NA,NA,NA
chr11,30033106,30033106,C,T,R004_F,KCNA4,Missense_Mutation,NM_002233,exon2,c.G1120A,p.V374M,SNP,SNVindel,exonic,KCNA4,NA,nonsynonymous SNV,KCNA4:NM_002233:exon2:c.G1120A:p.V374M,D,D,D,D,N,D
chr11,55872537,55872537,A,G,R004_F,OR8H2,Missense_Mutation,NM_001005200,exon1,c.A19G,p.N7D,SNP,SNVindel,exonic,OR8H2,NA,nonsynonymous SNV,OR8H2:NM_001005200:exon1:c.A19G:p.N7D,T,N,N,T,N,T
chr11,59190166,59190166,G,T,R004_F,OR5A2,Silent,NM_001001954,exon1,c.C261A,p.I87I,SNP,SNVindel,exonic,OR5A2,NA,synonymous SNV,OR5A2:NM_001001954:exon1:c.C261A:p.I87I,NA,NA,NA,NA,NA,NA
chr11,63681469,63681469,G,A,R004_F,RCOR2,Missense_Mutation,NM_001363648,exon8,c.C848T,p.T283M,SNP,SNVindel,exonic,RCOR2,NA,nonsynonymous SNV,"RCOR2:NM_001363648:exon8:c.C848T:p.T283M,RCOR2:NM_173587:exon8:c.C848T:p.T283M",T,D,D,T,N,T
chr12,50748939,50748939,C,T,R004_F,FAM186A,Missense_Mutation,NM_001145475,exon4,c.G1676A,p.R559H,SNP,SNVindel,exonic,FAM186A,NA,nonsynonymous SNV,FAM186A:NM_001145475:exon4:c.G1676A:p.R559H,T,.,N,T,N,T
chr12,104376608,104376608,G,A,R004_F,TDG,Silent,NM_001363612,exon4,c.G81A,p.E27E,SNP,SNVindel,exonic,TDG,NA,synonymous SNV,"TDG:NM_001363612:exon4:c.G81A:p.E27E,TDG:NM_003211:exon5:c.G510A:p.E170E",NA,NA,NA,NA,NA,NA
chr12,105538203,105538203,C,T,R004_F,WASHC4,Missense_Mutation,NM_001293640,exon21,c.C2152T,p.R718W,SNP,SNVindel,exonic,WASHC4,NA,nonsynonymous SNV,"WASHC4:NM_001293640:exon21:c.C2152T:p.R718W,WASHC4:NM_015275:exon21:c.C2149T:p.R717W",D,D,D,T,D,T
chr14,96944814,96944814,C,A,R004_F,AK7,Missense_Mutation,NM_001350892,exon13,c.C1370A,p.A457E,SNP,SNVindel,exonic,AK7,NA,nonsynonymous SNV,"AK7:NM_001350892:exon13:c.C1370A:p.A457E,AK7:NM_001350888:exon14:c.C1499A:p.A500E,AK7:NM_001350890:exon14:c.C1499A:p.A500E,AK7:NM_001350891:exon14:c.C1490A:p.A497E,AK7:NM_152327:exon15:c.C1568A:p.A523E",T,N,N,D,N,T
chr15,75094111,75094111,G,T,R004_F,CSK,Silent,NM_004383,exon11,c.G963T,p.L321L,SNP,SNVindel,exonic,CSK,NA,synonymous SNV,"CSK:NM_004383:exon11:c.G963T:p.L321L,CSK:NM_001127190:exon12:c.G963T:p.L321L,CSK:NM_001354988:exon13:c.G963T:p.L321L",NA,NA,NA,NA,NA,NA
chr16,67701924,67701924,G,A,R004_F,C16orf86,Missense_Mutation,NM_001012984,exon3,c.G476A,p.R159H,SNP,SNVindel,exonic,C16orf86,NA,nonsynonymous SNV,C16orf86:NM_001012984:exon3:c.G476A:p.R159H,D,.,D,.,D,T
chr17,4836051,4836051,T,A,R004_F,GP1BA,Missense_Mutation,NM_000173,exon2,c.T152A,p.I51N,SNP,SNVindel,exonic,GP1BA,NA,nonsynonymous SNV,GP1BA:NM_000173:exon2:c.T152A:p.I51N,T,N,D,T,D,T
chr17,8700952,8700952,C,T,R004_F,MFSD6L,Missense_Mutation,NM_152599,exon1,c.G1487A,p.R496Q,SNP,SNVindel,exonic,MFSD6L,NA,nonsynonymous SNV,MFSD6L:NM_152599:exon1:c.G1487A:p.R496Q,T,N,N,D,N,T
chr17,37580050,37580050,G,T,R004_F,MED1,Silent,NM_004774,exon12,c.C876A,p.T292T,SNP,SNVindel,exonic,MED1,NA,synonymous SNV,MED1:NM_004774:exon12:c.C876A:p.T292T,NA,NA,NA,NA,NA,NA
chr17,38334451,38334451,C,T,R004_F,RAPGEFL1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,RAPGEFL1,NA,unknown,UNKNOWN,.,.,D,.,.,T
chr17,45822254,45822254,C,A,R004_F,TBX21,Missense_Mutation,NM_013351,exon6,c.C1130A,p.A377E,SNP,SNVindel,exonic,TBX21,NA,nonsynonymous SNV,TBX21:NM_013351:exon6:c.C1130A:p.A377E,T,N,N,D,N,T
chr17,48649313,48649313,G,A,R004_F,CACNA1G,Missense_Mutation,NM_001256324,exon5,c.G661A,p.V221I,SNP,SNVindel,exonic,CACNA1G,NA,nonsynonymous SNV,"CACNA1G:NM_001256324:exon5:c.G661A:p.V221I,CACNA1G:NM_001256325:exon5:c.G661A:p.V221I,CACNA1G:NM_001256326:exon5:c.G661A:p.V221I,CACNA1G:NM_001256327:exon5:c.G661A:p.V221I,CACNA1G:NM_001256328:exon5:c.G661A:p.V221I,CACNA1G:NM_001256329:exon5:c.G661A:p.V221I,CACNA1G:NM_001256330:exon5:c.G661A:p.V221I,CACNA1G:NM_001256331:exon5:c.G661A:p.V221I,CACNA1G:NM_001256332:exon5:c.G661A:p.V221I,CACNA1G:NM_001256333:exon5:c.G661A:p.V221I,CACNA1G:NM_001256334:exon5:c.G661A:p.V221I,CACNA1G:NM_001256359:exon5:c.G661A:p.V221I,CACNA1G:NM_001256360:exon5:c.G661A:p.V221I,CACNA1G:NM_001256361:exon5:c.G661A:p.V221I,CACNA1G:NM_018896:exon5:c.G661A:p.V221I,CACNA1G:NM_198376:exon5:c.G661A:p.V221I,CACNA1G:NM_198377:exon5:c.G661A:p.V221I,CACNA1G:NM_198378:exon5:c.G661A:p.V221I,CACNA1G:NM_198379:exon5:c.G661A:p.V221I,CACNA1G:NM_198380:exon5:c.G661A:p.V221I,CACNA1G:NM_198382:exon5:c.G661A:p.V221I,CACNA1G:NM_198383:exon5:c.G661A:p.V221I,CACNA1G:NM_198384:exon5:c.G661A:p.V221I,CACNA1G:NM_198385:exon5:c.G661A:p.V221I,CACNA1G:NM_198386:exon5:c.G661A:p.V221I,CACNA1G:NM_198387:exon5:c.G661A:p.V221I,CACNA1G:NM_198388:exon5:c.G661A:p.V221I,CACNA1G:NM_198396:exon5:c.G661A:p.V221I",D,D,D,D,N,D
chr18,19024307,19024307,G,A,R004_F,GREB1L,Missense_Mutation,NM_001142966,exon11,c.G1330A,p.G444S,SNP,SNVindel,exonic,GREB1L,NA,nonsynonymous SNV,GREB1L:NM_001142966:exon11:c.G1330A:p.G444S,T,.,N,T,N,T
chr19,12954345,12954345,C,T,R004_F,MAST1,Missense_Mutation,NM_014975,exon4,c.C251T,p.A84V,SNP,SNVindel,exonic,MAST1,NA,nonsynonymous SNV,MAST1:NM_014975:exon4:c.C251T:p.A84V,T,D,D,T,N,T
chr19,35827160,35827160,C,A,R004_F,CD22,Missense_Mutation,NM_001278417,exon3,c.C118A,p.H40N,SNP,SNVindel,exonic,CD22,NA,nonsynonymous SNV,"CD22:NM_001278417:exon3:c.C118A:p.H40N,CD22:NM_001185099:exon4:c.C634A:p.H212N,CD22:NM_001185100:exon4:c.C634A:p.H212N,CD22:NM_001185101:exon4:c.C634A:p.H212N,CD22:NM_001771:exon4:c.C634A:p.H212N",T,N,N,T,D,T
chr20,22564887,22564887,C,T,R004_F,FOXA2,Silent,NM_021784,exon1,c.G30A,p.A10A,SNP,SNVindel,exonic,FOXA2,NA,synonymous SNV,"FOXA2:NM_021784:exon1:c.G30A:p.A10A,FOXA2:NM_153675:exon2:c.G12A:p.A4A",NA,NA,NA,NA,NA,NA
chr20,62078183,62078183,G,A,R004_F,KCNQ2,Silent,NM_004518,exon2,c.C304T,p.L102L,SNP,SNVindel,exonic,KCNQ2,NA,synonymous SNV,"KCNQ2:NM_004518:exon2:c.C304T:p.L102L,KCNQ2:NM_172106:exon2:c.C304T:p.L102L,KCNQ2:NM_172107:exon2:c.C304T:p.L102L,KCNQ2:NM_172108:exon2:c.C304T:p.L102L,KCNQ2:NM_172109:exon2:c.C304T:p.L102L",NA,NA,NA,NA,NA,NA
chrX,55650633,55650633,C,T,R004_F,FOXR2,Silent,NM_198451,exon1,c.C489T,p.D163D,SNP,SNVindel,exonic,FOXR2,NA,synonymous SNV,FOXR2:NM_198451:exon1:c.C489T:p.D163D,NA,NA,NA,NA,NA,NA
chrX,107434654,107434654,C,A,R004_F,COL4A6,Missense_Mutation,NM_001287758,exon19,c.G1290T,p.L430F,SNP,SNVindel,exonic,COL4A6,NA,nonsynonymous SNV,"COL4A6:NM_001287758:exon19:c.G1290T:p.L430F,COL4A6:NM_001287759:exon19:c.G1290T:p.L430F,COL4A6:NM_001287760:exon19:c.G1290T:p.L430F,COL4A6:NM_001847:exon19:c.G1293T:p.L431F,COL4A6:NM_033641:exon19:c.G1290T:p.L430F",T,N,N,D,N,D
chr1,75055472,75055472,C,A,R004_S,ERICH3,Silent,NM_001002912,exon12,c.G2019T,p.T673T,SNP,SNVindel,exonic,ERICH3,NA,synonymous SNV,ERICH3:NM_001002912:exon12:c.G2019T:p.T673T,NA,NA,NA,NA,NA,NA
chr1,93070864,93070864,C,G,R004_S,EVI5,Missense_Mutation,NM_005665,exon16,c.G2022C,p.Q674H,SNP,SNVindel,exonic,EVI5,NA,nonsynonymous SNV,"EVI5:NM_005665:exon16:c.G2022C:p.Q674H,EVI5:NM_001308248:exon17:c.G2055C:p.Q685H,EVI5:NM_001350197:exon18:c.G2070C:p.Q690H,EVI5:NM_001350198:exon18:c.G2070C:p.Q690H",D,D,D,T,D,T
chr1,152278049,152278049,A,C,R004_S,FLG,Missense_Mutation,NM_002016,exon3,c.T9313G,p.Y3105D,SNP,SNVindel,exonic,FLG,NA,nonsynonymous SNV,FLG:NM_002016:exon3:c.T9313G:p.Y3105D,T,.,P,T,N,T
chr1,186089202,186089202,G,A,R004_S,HMCN1,Missense_Mutation,NM_031935,exon80,c.G12154A,p.D4052N,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon80:c.G12154A:p.D4052N,D,D,D,T,D,D
chr1,205273398,205273398,T,A,R004_S,NUAK2,Missense_Mutation,NM_030952,exon7,c.A1067T,p.Q356L,SNP,SNVindel,exonic,NUAK2,NA,nonsynonymous SNV,NUAK2:NM_030952:exon7:c.A1067T:p.Q356L,D,D,D,T,N,T
chr2,74136261,74136261,C,T,R004_S,ACTG2,Missense_Mutation,NM_001199893,exon4,c.C317T,p.T106M,SNP,SNVindel,exonic,ACTG2,NA,nonsynonymous SNV,"ACTG2:NM_001199893:exon4:c.C317T:p.T106M,ACTG2:NM_001615:exon5:c.C446T:p.T149M",.,D,D,D,D,D
chr2,219611870,219611870,C,T,R004_S,TTLL4,Missense_Mutation,NM_014640,exon9,c.C2119T,p.R707C,SNP,SNVindel,exonic,TTLL4,NA,nonsynonymous SNV,TTLL4:NM_014640:exon9:c.C2119T:p.R707C,T,D,D,T,D,T
chr2,230453157,230453157,C,A,R004_S,DNER,Silent,NM_139072,exon3,c.G633T,p.A211A,SNP,SNVindel,exonic,DNER,NA,synonymous SNV,DNER:NM_139072:exon3:c.G633T:p.A211A,NA,NA,NA,NA,NA,NA
chr3,111342669,111342669,C,T,R004_S,CD96,Missense_Mutation,NM_005816,exon9,c.C1249T,p.P417S,SNP,SNVindel,exonic,CD96,NA,nonsynonymous SNV,"CD96:NM_005816:exon9:c.C1249T:p.P417S,CD96:NM_198196:exon10:c.C1297T:p.P433S",T,N,N,T,N,T
chr3,178922328,178922328,C,G,R004_S,PIK3CA,Missense_Mutation,NM_006218,exon6,c.C1097G,p.P366R,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon6:c.C1097G:p.P366R,D,D,D,T,N,T
chr4,87653793,87653793,C,G,R004_S,PTPN13,Missense_Mutation,NM_006264,exon12,c.C1732G,p.L578V,SNP,SNVindel,exonic,PTPN13,NA,nonsynonymous SNV,"PTPN13:NM_006264:exon12:c.C1732G:p.L578V,PTPN13:NM_080683:exon12:c.C1732G:p.L578V,PTPN13:NM_080684:exon12:c.C1732G:p.L578V,PTPN13:NM_080685:exon12:c.C1732G:p.L578V",D,N,D,T,N,D
chr4,177609001,177609001,A,G,R004_S,VEGFC,Missense_Mutation,NM_005429,exon5,c.T785C,p.F262S,SNP,SNVindel,exonic,VEGFC,NA,nonsynonymous SNV,VEGFC:NM_005429:exon5:c.T785C:p.F262S,.,D,D,.,.,T
chr5,1235648,1235648,G,A,R004_S,SLC6A18,Silent,NM_182632,exon4,c.G492A,p.R164R,SNP,SNVindel,exonic,SLC6A18,NA,synonymous SNV,SLC6A18:NM_182632:exon4:c.G492A:p.R164R,NA,NA,NA,NA,NA,NA
chr5,32089286,32089286,C,T,R004_S,PDZD2,Missense_Mutation,NM_178140,exon20,c.C5732T,p.T1911M,SNP,SNVindel,exonic,PDZD2,NA,nonsynonymous SNV,PDZD2:NM_178140:exon20:c.C5732T:p.T1911M,T,N,N,T,N,T
chr5,180056302,180056302,G,A,R004_S,FLT4,Silent,NM_001354989,exon7,c.C942T,p.N314N,SNP,SNVindel,exonic,FLT4,NA,synonymous SNV,"FLT4:NM_001354989:exon7:c.C942T:p.N314N,FLT4:NM_002020:exon7:c.C942T:p.N314N,FLT4:NM_182925:exon7:c.C942T:p.N314N",NA,NA,NA,NA,NA,NA
chr6,123594112,123594112,G,C,R004_S,TRDN,Missense_Mutation,NM_006073,exon29,c.C1669G,p.P557A,SNP,SNVindel,exonic,TRDN,NA,nonsynonymous SNV,TRDN:NM_006073:exon29:c.C1669G:p.P557A,D,N,N,T,N,T
chr6,151144807,151144807,C,T,R004_S,PLEKHG1,Nonsense_Mutation,NM_001329803,exon12,c.C1348T,p.Q450X,SNP,SNVindel,exonic,PLEKHG1,NA,stopgain,"PLEKHG1:NM_001329803:exon12:c.C1348T:p.Q450X,PLEKHG1:NM_001329802:exon13:c.C1426T:p.Q476X,PLEKHG1:NM_001329798:exon14:c.C1642T:p.Q548X,PLEKHG1:NM_001329799:exon14:c.C1585T:p.Q529X,PLEKHG1:NM_001329800:exon14:c.C1465T:p.Q489X,PLEKHG1:NM_001329801:exon14:c.C1465T:p.Q489X,PLEKHG1:NM_001329806:exon14:c.C1465T:p.Q489X,PLEKHG1:NM_001029884:exon15:c.C1465T:p.Q489X,PLEKHG1:NM_001329805:exon15:c.C1465T:p.Q489X,PLEKHG1:NM_001329804:exon16:c.C1465T:p.Q489X",.,N,A,.,.,.
chr7,157931003,157931003,C,T,R004_S,PTPRN2,Missense_Mutation,NM_001308267,exon6,c.G1001A,p.R334H,SNP,SNVindel,exonic,PTPRN2,NA,nonsynonymous SNV,"PTPRN2:NM_001308267:exon6:c.G1001A:p.R334H,PTPRN2:NM_130842:exon6:c.G1064A:p.R355H,PTPRN2:NM_001308268:exon7:c.G1184A:p.R395H,PTPRN2:NM_002847:exon7:c.G1115A:p.R372H,PTPRN2:NM_130843:exon7:c.G1115A:p.R372H",T,.,N,T,N,T
chr8,21840312,21840312,C,A,R004_S,XPO7,Missense_Mutation,NM_001362802,exon10,c.C1200A,p.H400Q,SNP,SNVindel,exonic,XPO7,NA,nonsynonymous SNV,"XPO7:NM_001362802:exon10:c.C1200A:p.H400Q,XPO7:NM_001100161:exon11:c.C1293A:p.H431Q,XPO7:NM_015024:exon11:c.C1266A:p.H422Q",T,D,D,T,N,T
chr8,57354130,57354130,G,A,R004_S,PENK,Missense_Mutation,NM_001135690,exon4,c.C505T,p.R169C,SNP,SNVindel,exonic,PENK,NA,nonsynonymous SNV,PENK:NM_001135690:exon4:c.C505T:p.R169C,T,N,N,T,N,T
chr8,145736238,145736238,C,T,R004_S,MFSD3,Silent,NM_138431,exon4,c.C1017T,p.T339T,SNP,SNVindel,exonic,MFSD3,NA,synonymous SNV,MFSD3:NM_138431:exon4:c.C1017T:p.T339T,NA,NA,NA,NA,NA,NA
chr9,37442400,37442400,C,A,R004_S,ZBTB5,Missense_Mutation,NM_014872,exon2,c.G149T,p.R50L,SNP,SNVindel,exonic,ZBTB5,NA,nonsynonymous SNV,ZBTB5:NM_014872:exon2:c.G149T:p.R50L,D,D,D,T,D,T
chr11,59190166,59190166,G,T,R004_S,OR5A2,Silent,NM_001001954,exon1,c.C261A,p.I87I,SNP,SNVindel,exonic,OR5A2,NA,synonymous SNV,OR5A2:NM_001001954:exon1:c.C261A:p.I87I,NA,NA,NA,NA,NA,NA
chr11,63681469,63681469,G,A,R004_S,RCOR2,Missense_Mutation,NM_001363648,exon8,c.C848T,p.T283M,SNP,SNVindel,exonic,RCOR2,NA,nonsynonymous SNV,"RCOR2:NM_001363648:exon8:c.C848T:p.T283M,RCOR2:NM_173587:exon8:c.C848T:p.T283M",T,D,D,T,N,T
chr12,8330125,8330125,A,T,R004_S,ZNF705A,Silent,NM_001004328,exon5,c.A849T,p.P283P,SNP,SNVindel,exonic,ZNF705A,NA,synonymous SNV,ZNF705A:NM_001004328:exon5:c.A849T:p.P283P,NA,NA,NA,NA,NA,NA
chr12,50748939,50748939,C,T,R004_S,FAM186A,Missense_Mutation,NM_001145475,exon4,c.G1676A,p.R559H,SNP,SNVindel,exonic,FAM186A,NA,nonsynonymous SNV,FAM186A:NM_001145475:exon4:c.G1676A:p.R559H,T,.,N,T,N,T
chr12,65564132,65564132,C,A,R004_S,LEMD3,Nonsense_Mutation,NM_001167614,exon1,c.C756A,p.Y252X,SNP,SNVindel,exonic,LEMD3,NA,stopgain,"LEMD3:NM_001167614:exon1:c.C756A:p.Y252X,LEMD3:NM_014319:exon1:c.C756A:p.Y252X",.,U,A,.,.,.
chr12,104376608,104376608,G,A,R004_S,TDG,Silent,NM_001363612,exon4,c.G81A,p.E27E,SNP,SNVindel,exonic,TDG,NA,synonymous SNV,"TDG:NM_001363612:exon4:c.G81A:p.E27E,TDG:NM_003211:exon5:c.G510A:p.E170E",NA,NA,NA,NA,NA,NA
chr12,104376700,104376700,A,C,R004_S,TDG,Missense_Mutation,NM_001363612,exon4,c.A173C,p.K58T,SNP,SNVindel,exonic,TDG,NA,nonsynonymous SNV,"TDG:NM_001363612:exon4:c.A173C:p.K58T,TDG:NM_003211:exon5:c.A602C:p.K201T",T,D,D,T,N,T
chr15,43654097,43654097,T,C,R004_S,ZSCAN29,Missense_Mutation,NM_152455,exon5,c.A1733G,p.D578G,SNP,SNVindel,exonic,ZSCAN29,NA,nonsynonymous SNV,ZSCAN29:NM_152455:exon5:c.A1733G:p.D578G,D,D,D,T,D,T
chr16,11056384,11056384,C,T,R004_S,CLEC16A,Silent,NM_001243403,exon3,c.C282T,p.C94C,SNP,SNVindel,exonic,CLEC16A,NA,synonymous SNV,"CLEC16A:NM_001243403:exon3:c.C282T:p.C94C,CLEC16A:NM_015226:exon3:c.C282T:p.C94C",NA,NA,NA,NA,NA,NA
chr16,67701924,67701924,G,A,R004_S,C16orf86,Missense_Mutation,NM_001012984,exon3,c.G476A,p.R159H,SNP,SNVindel,exonic,C16orf86,NA,nonsynonymous SNV,C16orf86:NM_001012984:exon3:c.G476A:p.R159H,D,.,D,.,D,T
chr17,8700952,8700952,C,T,R004_S,MFSD6L,Missense_Mutation,NM_152599,exon1,c.G1487A,p.R496Q,SNP,SNVindel,exonic,MFSD6L,NA,nonsynonymous SNV,MFSD6L:NM_152599:exon1:c.G1487A:p.R496Q,T,N,N,D,N,T
chr17,37580050,37580050,G,T,R004_S,MED1,Silent,NM_004774,exon12,c.C876A,p.T292T,SNP,SNVindel,exonic,MED1,NA,synonymous SNV,MED1:NM_004774:exon12:c.C876A:p.T292T,NA,NA,NA,NA,NA,NA
chr17,45822254,45822254,C,A,R004_S,TBX21,Missense_Mutation,NM_013351,exon6,c.C1130A,p.A377E,SNP,SNVindel,exonic,TBX21,NA,nonsynonymous SNV,TBX21:NM_013351:exon6:c.C1130A:p.A377E,T,N,N,D,N,T
chr17,46053334,46053334,A,G,R004_S,CDK5RAP3,Silent,NM_001278198,exon6,c.A78G,p.E26E,SNP,SNVindel,exonic,CDK5RAP3,NA,synonymous SNV,"CDK5RAP3:NM_001278198:exon6:c.A78G:p.E26E,CDK5RAP3:NM_001278216:exon6:c.A78G:p.E26E,CDK5RAP3:NM_001278217:exon7:c.A492G:p.E164E,CDK5RAP3:NM_001278197:exon8:c.A828G:p.E276E,CDK5RAP3:NM_176096:exon8:c.A753G:p.E251E",NA,NA,NA,NA,NA,NA
chr17,48649313,48649313,G,A,R004_S,CACNA1G,Missense_Mutation,NM_001256324,exon5,c.G661A,p.V221I,SNP,SNVindel,exonic,CACNA1G,NA,nonsynonymous SNV,"CACNA1G:NM_001256324:exon5:c.G661A:p.V221I,CACNA1G:NM_001256325:exon5:c.G661A:p.V221I,CACNA1G:NM_001256326:exon5:c.G661A:p.V221I,CACNA1G:NM_001256327:exon5:c.G661A:p.V221I,CACNA1G:NM_001256328:exon5:c.G661A:p.V221I,CACNA1G:NM_001256329:exon5:c.G661A:p.V221I,CACNA1G:NM_001256330:exon5:c.G661A:p.V221I,CACNA1G:NM_001256331:exon5:c.G661A:p.V221I,CACNA1G:NM_001256332:exon5:c.G661A:p.V221I,CACNA1G:NM_001256333:exon5:c.G661A:p.V221I,CACNA1G:NM_001256334:exon5:c.G661A:p.V221I,CACNA1G:NM_001256359:exon5:c.G661A:p.V221I,CACNA1G:NM_001256360:exon5:c.G661A:p.V221I,CACNA1G:NM_001256361:exon5:c.G661A:p.V221I,CACNA1G:NM_018896:exon5:c.G661A:p.V221I,CACNA1G:NM_198376:exon5:c.G661A:p.V221I,CACNA1G:NM_198377:exon5:c.G661A:p.V221I,CACNA1G:NM_198378:exon5:c.G661A:p.V221I,CACNA1G:NM_198379:exon5:c.G661A:p.V221I,CACNA1G:NM_198380:exon5:c.G661A:p.V221I,CACNA1G:NM_198382:exon5:c.G661A:p.V221I,CACNA1G:NM_198383:exon5:c.G661A:p.V221I,CACNA1G:NM_198384:exon5:c.G661A:p.V221I,CACNA1G:NM_198385:exon5:c.G661A:p.V221I,CACNA1G:NM_198386:exon5:c.G661A:p.V221I,CACNA1G:NM_198387:exon5:c.G661A:p.V221I,CACNA1G:NM_198388:exon5:c.G661A:p.V221I,CACNA1G:NM_198396:exon5:c.G661A:p.V221I",D,D,D,D,N,D
chr18,19024307,19024307,G,A,R004_S,GREB1L,Missense_Mutation,NM_001142966,exon11,c.G1330A,p.G444S,SNP,SNVindel,exonic,GREB1L,NA,nonsynonymous SNV,GREB1L:NM_001142966:exon11:c.G1330A:p.G444S,T,.,N,T,N,T
chr19,12954345,12954345,C,T,R004_S,MAST1,Missense_Mutation,NM_014975,exon4,c.C251T,p.A84V,SNP,SNVindel,exonic,MAST1,NA,nonsynonymous SNV,MAST1:NM_014975:exon4:c.C251T:p.A84V,T,D,D,T,N,T
chr19,17397495,17397495,G,T,R004_S,ANKLE1,Missense_Mutation,NM_001278444,exon8,c.G1765T,p.V589L,SNP,SNVindel,exonic,ANKLE1,NA,nonsynonymous SNV,ANKLE1:NM_001278444:exon8:c.G1765T:p.V589L,NA,NA,NA,NA,NA,NA
chr19,35827160,35827160,C,A,R004_S,CD22,Missense_Mutation,NM_001278417,exon3,c.C118A,p.H40N,SNP,SNVindel,exonic,CD22,NA,nonsynonymous SNV,"CD22:NM_001278417:exon3:c.C118A:p.H40N,CD22:NM_001185099:exon4:c.C634A:p.H212N,CD22:NM_001185100:exon4:c.C634A:p.H212N,CD22:NM_001185101:exon4:c.C634A:p.H212N,CD22:NM_001771:exon4:c.C634A:p.H212N",T,N,N,T,D,T
chr20,22564887,22564887,C,T,R004_S,FOXA2,Silent,NM_021784,exon1,c.G30A,p.A10A,SNP,SNVindel,exonic,FOXA2,NA,synonymous SNV,"FOXA2:NM_021784:exon1:c.G30A:p.A10A,FOXA2:NM_153675:exon2:c.G12A:p.A4A",NA,NA,NA,NA,NA,NA
chr20,62078183,62078183,G,A,R004_S,KCNQ2,Silent,NM_004518,exon2,c.C304T,p.L102L,SNP,SNVindel,exonic,KCNQ2,NA,synonymous SNV,"KCNQ2:NM_004518:exon2:c.C304T:p.L102L,KCNQ2:NM_172106:exon2:c.C304T:p.L102L,KCNQ2:NM_172107:exon2:c.C304T:p.L102L,KCNQ2:NM_172108:exon2:c.C304T:p.L102L,KCNQ2:NM_172109:exon2:c.C304T:p.L102L",NA,NA,NA,NA,NA,NA
chrX,55650633,55650633,C,T,R004_S,FOXR2,Silent,NM_198451,exon1,c.C489T,p.D163D,SNP,SNVindel,exonic,FOXR2,NA,synonymous SNV,FOXR2:NM_198451:exon1:c.C489T:p.D163D,NA,NA,NA,NA,NA,NA
chrX,107434654,107434654,C,A,R004_S,COL4A6,Missense_Mutation,NM_001287758,exon19,c.G1290T,p.L430F,SNP,SNVindel,exonic,COL4A6,NA,nonsynonymous SNV,"COL4A6:NM_001287758:exon19:c.G1290T:p.L430F,COL4A6:NM_001287759:exon19:c.G1290T:p.L430F,COL4A6:NM_001287760:exon19:c.G1290T:p.L430F,COL4A6:NM_001847:exon19:c.G1293T:p.L431F,COL4A6:NM_033641:exon19:c.G1290T:p.L430F",T,N,N,D,N,D
chrX,114361449,114361449,C,A,R004_S,LRCH2,Missense_Mutation,NM_020871,exon16,c.G1748T,p.S583I,SNP,SNVindel,exonic,LRCH2,NA,nonsynonymous SNV,LRCH2:NM_020871:exon16:c.G1748T:p.S583I,D,N,D,D,N,D
chr1,16902856,16902856,C,T,R005_F,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,89449278,89449278,C,T,R005_F,RBMXL1,Missense_Mutation,NM_019610,exon2,c.G232A,p.A78T,SNP,SNVindel,exonic,RBMXL1,NA,nonsynonymous SNV,"RBMXL1:NM_019610:exon2:c.G232A:p.A78T,RBMXL1:NM_001162536:exon3:c.G232A:p.A78T",T,U,D,T,N,T
chr1,89449298,89449298,C,G,R005_F,RBMXL1,Missense_Mutation,NM_019610,exon2,c.G212C,p.G71A,SNP,SNVindel,exonic,RBMXL1,NA,nonsynonymous SNV,"RBMXL1:NM_019610:exon2:c.G212C:p.G71A,RBMXL1:NM_001162536:exon3:c.G212C:p.G71A",D,U,D,D,D,T
chr1,111959017,111959017,C,T,R005_F,OVGP1,Missense_Mutation,NM_002557,exon10,c.G1084A,p.V362I,SNP,SNVindel,exonic,OVGP1,NA,nonsynonymous SNV,OVGP1:NM_002557:exon10:c.G1084A:p.V362I,T,N,N,T,N,T
chr1,159043081,159043081,T,G,R005_F,AIM2,Missense_Mutation,NM_004833,exon2,c.A209C,p.Q70P,SNP,SNVindel,exonic,AIM2,NA,nonsynonymous SNV,AIM2:NM_004833:exon2:c.A209C:p.Q70P,D,.,N,T,N,T
chr1,177001928,177001928,G,C,R005_F,ASTN1,Missense_Mutation,NM_001286164,exon3,c.C529G,p.R177G,SNP,SNVindel,exonic,ASTN1,NA,nonsynonymous SNV,"ASTN1:NM_001286164:exon3:c.C529G:p.R177G,ASTN1:NM_001364856:exon3:c.C529G:p.R177G,ASTN1:NM_004319:exon3:c.C529G:p.R177G,ASTN1:NM_207108:exon3:c.C529G:p.R177G",D,D,D,T,N,T
chr2,170007504,170007504,C,T,R005_F,LRP2,Missense_Mutation,NM_004525,exon68,c.G12494A,p.R4165H,SNP,SNVindel,exonic,LRP2,NA,nonsynonymous SNV,LRP2:NM_004525:exon68:c.G12494A:p.R4165H,D,D,D,D,D,D
chr3,137484274,137484274,C,T,R005_F,SOX14,Silent,NM_004189,exon1,c.C648T,p.V216V,SNP,SNVindel,exonic,SOX14,NA,synonymous SNV,SOX14:NM_004189:exon1:c.C648T:p.V216V,NA,NA,NA,NA,NA,NA
chr3,178922364,178922364,G,A,R005_F,PIK3CA,Missense_Mutation,NM_006218,exon6,c.G1133A,p.C378Y,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon6:c.G1133A:p.C378Y,T,D,D,T,D,T
chr3,186392940,186392940,G,A,R005_F,HRG,Silent,NM_000412,exon6,c.G702A,p.P234P,SNP,SNVindel,exonic,HRG,NA,synonymous SNV,HRG:NM_000412:exon6:c.G702A:p.P234P,NA,NA,NA,NA,NA,NA
chr4,1657186,1657186,C,T,R005_F,FAM53A,Missense_Mutation,NM_001013622,exon4,c.G401A,p.R134Q,SNP,SNVindel,exonic,FAM53A,NA,nonsynonymous SNV,"FAM53A:NM_001013622:exon4:c.G401A:p.R134Q,FAM53A:NM_001174070:exon4:c.G401A:p.R134Q,FAM53A:NM_001297435:exon4:c.G401A:p.R134Q",D,U,D,T,D,T
chr4,17805327,17805327,T,C,R005_F,DCAF16,Silent,NM_001345881,exon2,c.A438G,p.Q146Q,SNP,SNVindel,exonic,DCAF16,NA,synonymous SNV,"DCAF16:NM_001345881:exon2:c.A438G:p.Q146Q,DCAF16:NM_001345882:exon3:c.A438G:p.Q146Q,DCAF16:NM_001345884:exon3:c.A438G:p.Q146Q,DCAF16:NM_001345885:exon3:c.A438G:p.Q146Q,DCAF16:NM_017741:exon3:c.A438G:p.Q146Q,DCAF16:NM_001345880:exon4:c.A438G:p.Q146Q",NA,NA,NA,NA,NA,NA
chr4,90169941,90169941,C,T,R005_F,GPRIN3,Missense_Mutation,NM_198281,exon2,c.G1321A,p.A441T,SNP,SNVindel,exonic,GPRIN3,NA,nonsynonymous SNV,GPRIN3:NM_198281:exon2:c.G1321A:p.A441T,D,N,N,T,N,T
chr4,91230312,91230312,A,G,R005_F,CCSER1,Missense_Mutation,NM_001145065,exon2,c.A877G,p.T293A,SNP,SNVindel,exonic,CCSER1,NA,nonsynonymous SNV,"CCSER1:NM_001145065:exon2:c.A877G:p.T293A,CCSER1:NM_207491:exon2:c.A877G:p.T293A",T,N,N,T,N,T
chr5,13901560,13901560,C,T,R005_F,DNAH5,Missense_Mutation,NM_001369,exon14,c.G1853A,p.R618Q,SNP,SNVindel,exonic,DNAH5,NA,nonsynonymous SNV,DNAH5:NM_001369:exon14:c.G1853A:p.R618Q,D,D,D,T,D,T
chr5,23527470,23527470,G,A,R005_F,PRDM9,Missense_Mutation,NM_001310214,exon11,c.G2273A,p.R758H,SNP,SNVindel,exonic,PRDM9,NA,nonsynonymous SNV,"PRDM9:NM_001310214:exon11:c.G2273A:p.R758H,PRDM9:NM_020227:exon11:c.G2273A:p.R758H",D,.,N,T,N,T
chr5,36037950,36037950,A,C,R005_F,UGT3A2,Missense_Mutation,NM_001168316,exon5,c.T1142G,p.L381R,SNP,SNVindel,exonic,UGT3A2,NA,nonsynonymous SNV,"UGT3A2:NM_001168316:exon5:c.T1142G:p.L381R,UGT3A2:NM_174914:exon6:c.T1244G:p.L415R",D,U,D,T,D,D
chr5,70806119,70806119,C,A,R005_F,BDP1,Missense_Mutation,NM_018429,exon17,c.C3200A,p.T1067N,SNP,SNVindel,exonic,BDP1,NA,nonsynonymous SNV,BDP1:NM_018429:exon17:c.C3200A:p.T1067N,D,.,N,T,N,T
chr5,140554534,140554534,C,T,R005_F,PCDHB7,Silent,NM_018940,exon1,c.C2118T,p.F706F,SNP,SNVindel,exonic,PCDHB7,NA,synonymous SNV,PCDHB7:NM_018940:exon1:c.C2118T:p.F706F,NA,NA,NA,NA,NA,NA
chr6,16327909,16327909,A,C,R005_F,ATXN1,Missense_Mutation,NM_001128164,exon7,c.T633G,p.H211Q,SNP,SNVindel,exonic,ATXN1,NA,nonsynonymous SNV,"ATXN1:NM_001128164:exon7:c.T633G:p.H211Q,ATXN1:NM_000332:exon8:c.T633G:p.H211Q",T,.,P,T,N,T
chr6,16327915,16327915,A,C,R005_F,ATXN1,Missense_Mutation,NM_001128164,exon7,c.T627G,p.H209Q,SNP,SNVindel,exonic,ATXN1,NA,nonsynonymous SNV,"ATXN1:NM_001128164:exon7:c.T627G:p.H209Q,ATXN1:NM_000332:exon8:c.T627G:p.H209Q",T,.,N,T,N,T
chr6,45514666,45514666,C,A,R005_F,RUNX2,Missense_Mutation,NM_001278478,exon6,c.C1082A,p.T361N,SNP,SNVindel,exonic,RUNX2,NA,nonsynonymous SNV,"RUNX2:NM_001278478:exon6:c.C1082A:p.T361N,RUNX2:NM_001369405:exon7:c.C1148A:p.T383N,RUNX2:NM_001015051:exon8:c.C1124A:p.T375N,RUNX2:NM_001024630:exon9:c.C1190A:p.T397N",D,D,D,T,N,T
chr6,158288629,158288629,G,A,R005_F,SNX9,Silent,NM_016224,exon2,c.G63A,p.T21T,SNP,SNVindel,exonic,SNX9,NA,synonymous SNV,SNX9:NM_016224:exon2:c.G63A:p.T21T,NA,NA,NA,NA,NA,NA
chr6,161027579,161027579,G,A,R005_F,LPA,Silent,NM_005577,exon17,c.C2715T,p.D905D,SNP,SNVindel,exonic,LPA,NA,synonymous SNV,LPA:NM_005577:exon17:c.C2715T:p.D905D,NA,NA,NA,NA,NA,NA
chr7,21827032,21827032,T,C,R005_F,DNAH11,Missense_Mutation,NM_001277115,exon60,c.T9755C,p.L3252S,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon60:c.T9755C:p.L3252S,D,N,D,D,D,D
chr7,55210077,55210077,G,C,R005_F,EGFR,Missense_Mutation,NM_001346897,exon2,c.G187C,p.G63R,SNP,SNVindel,exonic,EGFR,NA,nonsynonymous SNV,"EGFR:NM_001346897:exon2:c.G187C:p.G63R,EGFR:NM_001346898:exon2:c.G187C:p.G63R,EGFR:NM_001346899:exon2:c.G187C:p.G63R,EGFR:NM_001346900:exon2:c.G28C:p.G10R,EGFR:NM_005228:exon2:c.G187C:p.G63R,EGFR:NM_201282:exon2:c.G187C:p.G63R,EGFR:NM_201283:exon2:c.G187C:p.G63R,EGFR:NM_201284:exon2:c.G187C:p.G63R",D,D,D,D,D,D
chr7,55240690,55240690,C,G,R005_F,EGFR,Missense_Mutation,NM_001346941,exon11,c.C1133G,p.S378C,SNP,SNVindel,exonic,EGFR,NA,nonsynonymous SNV,"EGFR:NM_001346941:exon11:c.C1133G:p.S378C,EGFR:NM_001346897:exon16:c.C1799G:p.S600C,EGFR:NM_001346899:exon16:c.C1799G:p.S600C,EGFR:NM_001346898:exon17:c.C1934G:p.S645C,EGFR:NM_001346900:exon17:c.C1775G:p.S592C,EGFR:NM_005228:exon17:c.C1934G:p.S645C",T,D,D,T,N,D
chr7,64864045,64864045,C,A,R005_F,ZNF92,Missense_Mutation,NM_001287534,exon2,c.C790A,p.P264T,SNP,SNVindel,exonic,ZNF92,NA,nonsynonymous SNV,"ZNF92:NM_001287534:exon2:c.C790A:p.P264T,ZNF92:NM_001287532:exon3:c.C922A:p.P308T,ZNF92:NM_007139:exon3:c.C811A:p.P271T,ZNF92:NM_152626:exon4:c.C1018A:p.P340T,ZNF92:NM_001287533:exon5:c.C790A:p.P264T",D,.,D,T,D,T
chr7,72081774,72081774,A,G,R005_F,TYW1B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TYW1B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,142574256,142574256,C,T,R005_F,TRPV6,Missense_Mutation,NM_018646,exon6,c.G787A,p.D263N,SNP,SNVindel,exonic,TRPV6,NA,nonsynonymous SNV,TRPV6:NM_018646:exon6:c.G787A:p.D263N,T,D,D,T,N,T
chr7,150269705,150269705,G,A,R005_F,GIMAP4,Missense_Mutation,NM_001363532,exon3,c.G589A,p.G197S,SNP,SNVindel,exonic,GIMAP4,NA,nonsynonymous SNV,"GIMAP4:NM_001363532:exon3:c.G589A:p.G197S,GIMAP4:NM_018326:exon3:c.G547A:p.G183S",T,N,N,T,D,T
chr7,154767459,154767459,T,C,R005_F,PAXIP1,Missense_Mutation,NM_007349,exon6,c.A1021G,p.I341V,SNP,SNVindel,exonic,PAXIP1,NA,nonsynonymous SNV,PAXIP1:NM_007349:exon6:c.A1021G:p.I341V,D,U,D,T,N,T
chr8,13356878,13356878,G,A,R005_F,DLC1,Nonsense_Mutation,NM_001348081,exon2,c.C703T,p.R235X,SNP,SNVindel,exonic,DLC1,NA,stopgain,"DLC1:NM_001348081:exon2:c.C703T:p.R235X,DLC1:NM_024767:exon2:c.C703T:p.R235X,DLC1:NM_182643:exon2:c.C703T:p.R235X",.,N,A,.,.,.
chr8,15605966,15605966,T,C,R005_F,TUSC3,Silent,NM_001356429,exon9,c.T1020C,p.Y340Y,SNP,SNVindel,exonic,TUSC3,NA,synonymous SNV,"TUSC3:NM_001356429:exon9:c.T1020C:p.Y340Y,TUSC3:NM_006765:exon9:c.T1020C:p.Y340Y,TUSC3:NM_178234:exon9:c.T1020C:p.Y340Y",NA,NA,NA,NA,NA,NA
chr8,54142333,54142333,C,A,R005_F,OPRK1,Missense_Mutation,NM_000912,exon4,c.G667T,p.D223Y,SNP,SNVindel,exonic,OPRK1,NA,nonsynonymous SNV,"OPRK1:NM_000912:exon4:c.G667T:p.D223Y,OPRK1:NM_001282904:exon5:c.G400T:p.D134Y",D,D,D,T,D,T
chr8,99441315,99441315,G,A,R005_F,KCNS2,Missense_Mutation,NM_020697,exon2,c.G1108A,p.V370I,SNP,SNVindel,exonic,KCNS2,NA,nonsynonymous SNV,KCNS2:NM_020697:exon2:c.G1108A:p.V370I,T,D,D,D,N,D
chr8,120569770,120569770,G,A,R005_F,ENPP2,Silent,NM_001040092,exon25,c.C2583T,p.S861S,SNP,SNVindel,exonic,ENPP2,NA,synonymous SNV,"ENPP2:NM_001040092:exon25:c.C2583T:p.S861S,ENPP2:NM_001130863:exon26:c.C2658T:p.S886S,ENPP2:NM_001330600:exon26:c.C2646T:p.S882S,ENPP2:NM_006209:exon26:c.C2739T:p.S913S",NA,NA,NA,NA,NA,NA
chr8,124987479,124987479,G,A,R005_F,FER1L6,Missense_Mutation,NM_001039112,exon8,c.G616A,p.V206I,SNP,SNVindel,exonic,FER1L6,NA,nonsynonymous SNV,FER1L6:NM_001039112:exon8:c.G616A:p.V206I,T,U,D,D,N,T
chr9,107289275,107289275,G,A,R005_F,OR13C4,Silent,NM_001001919,exon1,c.C216T,p.C72C,SNP,SNVindel,exonic,OR13C4,NA,synonymous SNV,OR13C4:NM_001001919:exon1:c.C216T:p.C72C,NA,NA,NA,NA,NA,NA
chr10,73822581,73822581,G,A,R005_F,SPOCK2,Silent,NM_001244950,exon11,c.C1212T,p.G404G,SNP,SNVindel,exonic,SPOCK2,NA,synonymous SNV,"SPOCK2:NM_001244950:exon11:c.C1212T:p.G404G,SPOCK2:NM_014767:exon12:c.C1212T:p.G404G",NA,NA,NA,NA,NA,NA
chr11,6964440,6964440,C,T,R005_F,ZNF215,Missense_Mutation,NM_001354854,exon4,c.C610T,p.R204C,SNP,SNVindel,exonic,ZNF215,NA,nonsynonymous SNV,"ZNF215:NM_001354854:exon4:c.C610T:p.R204C,ZNF215:NM_001354853:exon5:c.C610T:p.R204C,ZNF215:NM_013250:exon5:c.C610T:p.R204C",D,N,N,T,N,T
chr11,56468647,56468647,A,C,R005_F,OR9G1,Silent,NM_001005213,exon1,c.A784C,p.R262R,SNP,SNVindel,exonic,OR9G1;OR9G9,NA,synonymous SNV,"OR9G1:NM_001005213:exon1:c.A784C:p.R262R,OR9G9:NM_001013358:exon1:c.A784C:p.R262R",NA,NA,NA,NA,NA,NA
chr11,124507002,124507002,C,T,R005_F,SIAE,Missense_Mutation,NM_170601,exon10,c.G1417A,p.G473S,SNP,SNVindel,exonic,SIAE,NA,nonsynonymous SNV,"SIAE:NM_170601:exon10:c.G1417A:p.G473S,SIAE:NM_001199922:exon12:c.G1312A:p.G438S",T,N,N,D,N,T
chr12,53298675,53298675,A,C,R005_F,KRT8,Missense_Mutation,NM_002273,exon1,c.T91G,p.S31A,SNP,SNVindel,exonic,KRT8,NA,nonsynonymous SNV,"KRT8:NM_002273:exon1:c.T91G:p.S31A,KRT8:NM_001256282:exon2:c.T175G:p.S59A,KRT8:NM_001256293:exon2:c.T91G:p.S31A",T,N,N,T,N,T
chr12,112528533,112528533,G,A,R005_F,NAA25,Nonsense_Mutation,NM_024953,exon3,c.C280T,p.R94X,SNP,SNVindel,exonic,NAA25,NA,stopgain,NAA25:NM_024953:exon3:c.C280T:p.R94X,.,D,A,.,.,.
chr14,55509840,55509840,A,C,R005_F,SOCS4,Missense_Mutation,NM_080867,exon2,c.A81C,p.K27N,SNP,SNVindel,exonic,SOCS4,NA,nonsynonymous SNV,"SOCS4:NM_080867:exon2:c.A81C:p.K27N,SOCS4:NM_199421:exon3:c.A81C:p.K27N",D,D,D,T,N,T
chr14,63468074,63468074,C,G,R005_F,KCNH5,Missense_Mutation,NM_139318,exon4,c.G408C,p.Q136H,SNP,SNVindel,exonic,KCNH5,NA,nonsynonymous SNV,"KCNH5:NM_139318:exon4:c.G408C:p.Q136H,KCNH5:NM_172375:exon4:c.G408C:p.Q136H",D,D,D,D,D,D
chr14,94936083,94936083,C,T,R005_F,SERPINA9,Missense_Mutation,NM_001042518,exon2,c.G95A,p.R32H,SNP,SNVindel,exonic,SERPINA9,NA,nonsynonymous SNV,"SERPINA9:NM_001042518:exon2:c.G95A:p.R32H,SERPINA9:NM_175739:exon2:c.G95A:p.R32H",D,N,N,D,N,T
chr14,101198504,101198504,C,T,R005_F,DLK1,Missense_Mutation,NM_001317172,exon4,c.C388T,p.P130S,SNP,SNVindel,exonic,DLK1,NA,nonsynonymous SNV,"DLK1:NM_001317172:exon4:c.C388T:p.P130S,DLK1:NM_003836:exon4:c.C388T:p.P130S",D,D,D,D,D,D
chr15,22743379,22743379,A,G,R005_F,GOLGA6L1,Silent,NM_001001413,exon8,c.A1764G,p.R588R,SNP,SNVindel,exonic,GOLGA6L1;GOLGA6L22,NA,synonymous SNV,"GOLGA6L1:NM_001001413:exon8:c.A1764G:p.R588R,GOLGA6L22:NM_001271664:exon10:c.A1728G:p.R576R",NA,NA,NA,NA,NA,NA
chr15,40683720,40683720,C,T,R005_F,KNSTRN,Nonsense_Mutation,NM_001142761,exon7,c.C712T,p.R238X,SNP,SNVindel,exonic,KNSTRN,NA,stopgain,"KNSTRN:NM_001142761:exon7:c.C712T:p.R238X,KNSTRN:NM_033286:exon7:c.C712T:p.R238X",.,N,A,.,.,.
chr15,72021003,72021003,G,A,R005_F,THSD4,Silent,NM_001286429,exon3,c.G393A,p.S131S,SNP,SNVindel,exonic,THSD4,NA,synonymous SNV,"THSD4:NM_001286429:exon3:c.G393A:p.S131S,THSD4:NM_024817:exon8:c.G1473A:p.S491S",NA,NA,NA,NA,NA,NA
chr15,72040918,72040918,C,T,R005_F,THSD4,Silent,NM_001286429,exon8,c.C1320T,p.T440T,SNP,SNVindel,exonic,THSD4,NA,synonymous SNV,"THSD4:NM_001286429:exon8:c.C1320T:p.T440T,THSD4:NM_024817:exon13:c.C2400T:p.T800T",NA,NA,NA,NA,NA,NA
chr15,79177324,79177324,C,T,R005_F,MORF4L1,Silent,NM_206839,exon4,c.C171T,p.P57P,SNP,SNVindel,exonic,MORF4L1,NA,synonymous SNV,MORF4L1:NM_206839:exon4:c.C171T:p.P57P,NA,NA,NA,NA,NA,NA
chr15,89195464,89195464,C,T,R005_F,ISG20,Missense_Mutation,NM_001303235,exon2,c.C319T,p.R107C,SNP,SNVindel,exonic,ISG20,NA,nonsynonymous SNV,"ISG20:NM_001303235:exon2:c.C319T:p.R107C,ISG20:NM_001303233:exon3:c.C352T:p.R118C,ISG20:NM_001303236:exon3:c.C319T:p.R107C,ISG20:NM_001303237:exon3:c.C292T:p.R98C,ISG20:NM_002201:exon3:c.C352T:p.R118C,ISG20:NM_001303234:exon4:c.C352T:p.R118C",D,N,N,T,D,T
chr16,70900112,70900112,G,A,R005_F,HYDIN,Missense_Mutation,NM_001270974,exon67,c.C11431T,p.R3811C,SNP,SNVindel,exonic,HYDIN,NA,nonsynonymous SNV,HYDIN:NM_001270974:exon67:c.C11431T:p.R3811C,T,N,N,T,N,T
chr16,74761269,74761269,G,A,R005_F,FA2H,Nonsense_Mutation,NM_024306,exon3,c.C379T,p.R127X,SNP,SNVindel,exonic,FA2H,NA,stopgain,FA2H:NM_024306:exon3:c.C379T:p.R127X,.,N,A,.,.,.
chr17,7320492,7320492,C,A,R005_F,NLGN2,Missense_Mutation,NM_020795,exon7,c.C1882A,p.R628S,SNP,SNVindel,exonic,NLGN2,NA,nonsynonymous SNV,NLGN2:NM_020795:exon7:c.C1882A:p.R628S,T,N,D,T,N,T
chr17,39261693,39261693,A,T,R005_F,KRTAP4-9,Missense_Mutation,NM_001146041,exon1,c.A53T,p.D18V,SNP,SNVindel,exonic,KRTAP4-9,NA,nonsynonymous SNV,KRTAP4-9:NM_001146041:exon1:c.A53T:p.D18V,T,.,P,T,N,T
chr17,39580449,39580449,C,A,R005_F,KRT37,Missense_Mutation,NM_003770,exon1,c.G327T,p.K109N,SNP,SNVindel,exonic,KRT37,NA,nonsynonymous SNV,KRT37:NM_003770:exon1:c.G327T:p.K109N,D,N,N,D,N,T
chr18,14777989,14777989,C,G,R005_F,ANKRD30B,Missense_Mutation,NM_001367607,exon10,c.C1335G,p.I445M,SNP,SNVindel,exonic,ANKRD30B,NA,nonsynonymous SNV,ANKRD30B:NM_001367607:exon10:c.C1335G:p.I445M,T,.,N,T,N,T
chr18,14778011,14778011,T,G,R005_F,ANKRD30B,Missense_Mutation,NM_001367607,exon10,c.T1357G,p.Y453D,SNP,SNVindel,exonic,ANKRD30B,NA,nonsynonymous SNV,ANKRD30B:NM_001367607:exon10:c.T1357G:p.Y453D,T,.,N,T,N,T
chr18,77623752,77623752,C,T,R005_F,KCNG2,Missense_Mutation,NM_012283,exon1,c.C85T,p.R29C,SNP,SNVindel,exonic,KCNG2,NA,nonsynonymous SNV,KCNG2:NM_012283:exon1:c.C85T:p.R29C,D,U,D,T,N,T
chr19,4504529,4504529,T,C,R005_F,PLIN4,Missense_Mutation,NM_001367868,exon8,c.A4058G,p.H1353R,SNP,SNVindel,exonic,PLIN4,NA,nonsynonymous SNV,PLIN4:NM_001367868:exon8:c.A4058G:p.H1353R,T,U,N,T,D,T
chr19,18182951,18182951,G,A,R005_F,IL12RB1,Missense_Mutation,NM_001290023,exon9,c.C992T,p.T331M,SNP,SNVindel,exonic,IL12RB1,NA,nonsynonymous SNV,"IL12RB1:NM_001290023:exon9:c.C992T:p.T331M,IL12RB1:NM_005535:exon9:c.C992T:p.T331M,IL12RB1:NM_153701:exon9:c.C992T:p.T331M,IL12RB1:NM_001290024:exon10:c.C1112T:p.T371M",.,N,N,T,N,T
chr19,51330990,51330990,C,T,R005_F,KLK15,Missense_Mutation,NM_001277081,exon2,c.G122A,p.R41H,SNP,SNVindel,exonic,KLK15,NA,nonsynonymous SNV,"KLK15:NM_001277081:exon2:c.G122A:p.R41H,KLK15:NM_001277082:exon2:c.G122A:p.R41H,KLK15:NM_017509:exon2:c.G125A:p.R42H",.,N,N,D,.,T
chr19,55720786,55720786,C,T,R005_F,PTPRH,Missense_Mutation,NM_001161440,exon1,c.G16A,p.G6R,SNP,SNVindel,exonic,PTPRH,NA,nonsynonymous SNV,"PTPRH:NM_001161440:exon1:c.G16A:p.G6R,PTPRH:NM_002842:exon1:c.G16A:p.G6R",T,.,N,T,N,T
chr20,49214181,49214181,C,T,R005_F,RIPOR3,Missense_Mutation,NM_001290268,exon14,c.G1726A,p.A576T,SNP,SNVindel,exonic,RIPOR3,NA,nonsynonymous SNV,"RIPOR3:NM_001290268:exon14:c.G1726A:p.A576T,RIPOR3:NM_080829:exon14:c.G1714A:p.A572T",T,D,N,T,N,T
chr22,51142614,51142614,A,C,R005_F,SHANK3,Missense_Mutation,NM_033517,exon14,c.A1667C,p.K556T,SNP,SNVindel,exonic,SHANK3,NA,nonsynonymous SNV,SHANK3:NM_033517:exon14:c.A1667C:p.K556T,NA,NA,NA,NA,NA,NA
chrX,2825596,2825596,C,T,R005_F,ARSD,Missense_Mutation,NM_001669,exon10,c.G1498A,p.V500I,SNP,SNVindel,exonic,ARSD,NA,nonsynonymous SNV,ARSD:NM_001669:exon10:c.G1498A:p.V500I,T,N,P,D,N,T
chrX,3235404,3235404,C,T,R005_F,MXRA5,Silent,NM_015419,exon6,c.G6318A,p.T2106T,SNP,SNVindel,exonic,MXRA5,NA,synonymous SNV,MXRA5:NM_015419:exon6:c.G6318A:p.T2106T,NA,NA,NA,NA,NA,NA
chrX,54785159,54785159,G,A,R005_F,ITIH6,Missense_Mutation,NM_198510,exon8,c.C1348T,p.R450W,SNP,SNVindel,exonic,ITIH6,NA,nonsynonymous SNV,ITIH6:NM_198510:exon8:c.C1348T:p.R450W,D,U,N,T,D,T
chrX,65414992,65414992,C,T,R005_F,HEPH,Silent,NM_014799,exon8,c.C621T,p.N207N,SNP,SNVindel,exonic,HEPH,NA,synonymous SNV,"HEPH:NM_014799:exon8:c.C621T:p.N207N,HEPH:NM_001130860:exon9:c.C1431T:p.N477N,HEPH:NM_001282141:exon9:c.C1431T:p.N477N,HEPH:NM_001367232:exon9:c.C1431T:p.N477N,HEPH:NM_001367233:exon9:c.C1431T:p.N477N,HEPH:NM_001367234:exon9:c.C1431T:p.N477N,HEPH:NM_001367236:exon9:c.C1425T:p.N475N,HEPH:NM_001367238:exon9:c.C1431T:p.N477N,HEPH:NM_001367239:exon9:c.C1431T:p.N477N,HEPH:NM_001367240:exon9:c.C1431T:p.N477N,HEPH:NM_001367241:exon9:c.C1431T:p.N477N,HEPH:NM_001367243:exon9:c.C1431T:p.N477N,HEPH:NM_138737:exon9:c.C1584T:p.N528N,HEPH:NM_001367242:exon11:c.C621T:p.N207N",NA,NA,NA,NA,NA,NA
chrX,84362507,84362507,C,A,R005_F,SATL1,Missense_Mutation,NM_001012980,exon1,c.G1468T,p.G490C,SNP,SNVindel,exonic,SATL1,NA,nonsynonymous SNV,"SATL1:NM_001012980:exon1:c.G1468T:p.G490C,SATL1:NM_001367857:exon3:c.G1468T:p.G490C,SATL1:NM_001367858:exon7:c.G1468T:p.G490C",D,N,N,T,N,T
chrX,140984900,140984900,C,G,R005_F,MAGEC3,Silent,NM_177456,exon5,c.C462G,p.P154P,SNP,SNVindel,exonic,MAGEC3,NA,synonymous SNV,"MAGEC3:NM_177456:exon5:c.C462G:p.P154P,MAGEC3:NM_138702:exon7:c.C1356G:p.P452P",NA,NA,NA,NA,NA,NA
chr1,16902856,16902856,C,T,R005_S,NBPF1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,25617207,25617207,G,A,R005_S,RHD,Silent,NM_001127691,exon3,c.G411A,p.A137A,SNP,SNVindel,exonic,RHD,NA,synonymous SNV,"RHD:NM_001127691:exon3:c.G411A:p.A137A,RHD:NM_001282868:exon3:c.G411A:p.A137A,RHD:NM_001282869:exon3:c.G411A:p.A137A,RHD:NM_001282870:exon3:c.G411A:p.A137A,RHD:NM_001282871:exon3:c.G411A:p.A137A,RHD:NM_001282872:exon3:c.G411A:p.A137A,RHD:NM_016124:exon3:c.G411A:p.A137A",NA,NA,NA,NA,NA,NA
chr1,75766312,75766312,C,A,R005_S,SLC44A5,Missense_Mutation,NM_001320283,exon3,c.G142T,p.V48F,SNP,SNVindel,exonic,SLC44A5,NA,nonsynonymous SNV,"SLC44A5:NM_001320283:exon3:c.G142T:p.V48F,SLC44A5:NM_001130058:exon5:c.G160T:p.V54F,SLC44A5:NM_152697:exon5:c.G160T:p.V54F,SLC44A5:NM_001320287:exon6:c.G34T:p.V12F,SLC44A5:NM_001320285:exon7:c.G34T:p.V12F",D,N,N,T,N,T
chr1,75766313,75766313,A,T,R005_S,SLC44A5,Silent,NM_001320283,exon3,c.T141A,p.I47I,SNP,SNVindel,exonic,SLC44A5,NA,synonymous SNV,"SLC44A5:NM_001320283:exon3:c.T141A:p.I47I,SLC44A5:NM_001130058:exon5:c.T159A:p.I53I,SLC44A5:NM_152697:exon5:c.T159A:p.I53I,SLC44A5:NM_001320287:exon6:c.T33A:p.I11I,SLC44A5:NM_001320285:exon7:c.T33A:p.I11I",NA,NA,NA,NA,NA,NA
chr1,89449278,89449278,C,T,R005_S,RBMXL1,Missense_Mutation,NM_019610,exon2,c.G232A,p.A78T,SNP,SNVindel,exonic,RBMXL1,NA,nonsynonymous SNV,"RBMXL1:NM_019610:exon2:c.G232A:p.A78T,RBMXL1:NM_001162536:exon3:c.G232A:p.A78T",T,U,D,T,N,T
chr1,89449298,89449298,C,G,R005_S,RBMXL1,Missense_Mutation,NM_019610,exon2,c.G212C,p.G71A,SNP,SNVindel,exonic,RBMXL1,NA,nonsynonymous SNV,"RBMXL1:NM_019610:exon2:c.G212C:p.G71A,RBMXL1:NM_001162536:exon3:c.G212C:p.G71A",D,U,D,D,D,T
chr1,111959017,111959017,C,T,R005_S,OVGP1,Missense_Mutation,NM_002557,exon10,c.G1084A,p.V362I,SNP,SNVindel,exonic,OVGP1,NA,nonsynonymous SNV,OVGP1:NM_002557:exon10:c.G1084A:p.V362I,T,N,N,T,N,T
chr1,159043081,159043081,T,G,R005_S,AIM2,Missense_Mutation,NM_004833,exon2,c.A209C,p.Q70P,SNP,SNVindel,exonic,AIM2,NA,nonsynonymous SNV,AIM2:NM_004833:exon2:c.A209C:p.Q70P,D,.,N,T,N,T
chr1,177001928,177001928,G,C,R005_S,ASTN1,Missense_Mutation,NM_001286164,exon3,c.C529G,p.R177G,SNP,SNVindel,exonic,ASTN1,NA,nonsynonymous SNV,"ASTN1:NM_001286164:exon3:c.C529G:p.R177G,ASTN1:NM_001364856:exon3:c.C529G:p.R177G,ASTN1:NM_004319:exon3:c.C529G:p.R177G,ASTN1:NM_207108:exon3:c.C529G:p.R177G",D,D,D,T,N,T
chr1,231474256,231474256,C,A,R005_S,SPRTN,Missense_Mutation,NM_001010984,exon1,c.C127A,p.P43T,SNP,SNVindel,exonic,SPRTN,NA,nonsynonymous SNV,"SPRTN:NM_001010984:exon1:c.C127A:p.P43T,SPRTN:NM_001261462:exon1:c.C127A:p.P43T,SPRTN:NM_032018:exon1:c.C127A:p.P43T",D,D,D,T,D,D
chr2,21228370,21228370,T,A,R005_S,APOB,Missense_Mutation,NM_000384,exon26,c.A11370T,p.K3790N,SNP,SNVindel,exonic,APOB,NA,nonsynonymous SNV,APOB:NM_000384:exon26:c.A11370T:p.K3790N,D,N,N,T,D,T
chr2,170007504,170007504,C,T,R005_S,LRP2,Missense_Mutation,NM_004525,exon68,c.G12494A,p.R4165H,SNP,SNVindel,exonic,LRP2,NA,nonsynonymous SNV,LRP2:NM_004525:exon68:c.G12494A:p.R4165H,D,D,D,D,D,D
chr2,231076255,231076255,G,A,R005_S,SP110,Silent,NM_004509,exon6,c.C681T,p.N227N,SNP,SNVindel,exonic,SP110,NA,synonymous SNV,"SP110:NM_004509:exon6:c.C681T:p.N227N,SP110:NM_004510:exon6:c.C681T:p.N227N,SP110:NM_080424:exon6:c.C681T:p.N227N,SP110:NM_001185015:exon7:c.C699T:p.N233N",NA,NA,NA,NA,NA,NA
chr3,178922364,178922364,G,A,R005_S,PIK3CA,Missense_Mutation,NM_006218,exon6,c.G1133A,p.C378Y,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon6:c.G1133A:p.C378Y,T,D,D,T,D,T
chr4,1657186,1657186,C,T,R005_S,FAM53A,Missense_Mutation,NM_001013622,exon4,c.G401A,p.R134Q,SNP,SNVindel,exonic,FAM53A,NA,nonsynonymous SNV,"FAM53A:NM_001013622:exon4:c.G401A:p.R134Q,FAM53A:NM_001174070:exon4:c.G401A:p.R134Q,FAM53A:NM_001297435:exon4:c.G401A:p.R134Q",D,U,D,T,D,T
chr4,17805327,17805327,T,C,R005_S,DCAF16,Silent,NM_001345881,exon2,c.A438G,p.Q146Q,SNP,SNVindel,exonic,DCAF16,NA,synonymous SNV,"DCAF16:NM_001345881:exon2:c.A438G:p.Q146Q,DCAF16:NM_001345882:exon3:c.A438G:p.Q146Q,DCAF16:NM_001345884:exon3:c.A438G:p.Q146Q,DCAF16:NM_001345885:exon3:c.A438G:p.Q146Q,DCAF16:NM_017741:exon3:c.A438G:p.Q146Q,DCAF16:NM_001345880:exon4:c.A438G:p.Q146Q",NA,NA,NA,NA,NA,NA
chr4,91230312,91230312,A,G,R005_S,CCSER1,Missense_Mutation,NM_001145065,exon2,c.A877G,p.T293A,SNP,SNVindel,exonic,CCSER1,NA,nonsynonymous SNV,"CCSER1:NM_001145065:exon2:c.A877G:p.T293A,CCSER1:NM_207491:exon2:c.A877G:p.T293A",T,N,N,T,N,T
chr4,101947076,101947076,G,C,R005_S,PPP3CA,Silent,NM_001130692,exon12,c.C1356G,p.T452T,SNP,SNVindel,exonic,PPP3CA,NA,synonymous SNV,"PPP3CA:NM_001130692:exon12:c.C1356G:p.T452T,PPP3CA:NM_001130691:exon13:c.C1482G:p.T494T,PPP3CA:NM_000944:exon14:c.C1512G:p.T504T",NA,NA,NA,NA,NA,NA
chr4,113352477,113352477,T,C,R005_S,ALPK1,Missense_Mutation,NM_001253884,exon10,c.T1540C,p.S514P,SNP,SNVindel,exonic,ALPK1,NA,nonsynonymous SNV,"ALPK1:NM_001253884:exon10:c.T1540C:p.S514P,ALPK1:NM_001102406:exon11:c.T1774C:p.S592P,ALPK1:NM_025144:exon11:c.T1774C:p.S592P",D,N,N,T,N,T
chr4,183721165,183721165,C,T,R005_S,TENM3,Silent,NM_001080477,exon28,c.C7761T,p.N2587N,SNP,SNVindel,exonic,TENM3,NA,synonymous SNV,TENM3:NM_001080477:exon28:c.C7761T:p.N2587N,NA,NA,NA,NA,NA,NA
chr5,2755307,2755307,G,A,R005_S,C5orf38,Silent,NM_001365688,exon3,c.G498A,p.P166P,SNP,SNVindel,exonic,C5orf38,NA,synonymous SNV,C5orf38:NM_001365688:exon3:c.G498A:p.P166P,NA,NA,NA,NA,NA,NA
chr5,13901560,13901560,C,T,R005_S,DNAH5,Missense_Mutation,NM_001369,exon14,c.G1853A,p.R618Q,SNP,SNVindel,exonic,DNAH5,NA,nonsynonymous SNV,DNAH5:NM_001369:exon14:c.G1853A:p.R618Q,D,D,D,T,D,T
chr5,36037950,36037950,A,C,R005_S,UGT3A2,Missense_Mutation,NM_001168316,exon5,c.T1142G,p.L381R,SNP,SNVindel,exonic,UGT3A2,NA,nonsynonymous SNV,"UGT3A2:NM_001168316:exon5:c.T1142G:p.L381R,UGT3A2:NM_174914:exon6:c.T1244G:p.L415R",D,U,D,T,D,D
chr5,45262699,45262699,G,A,R005_S,HCN1,Missense_Mutation,NM_021072,exon8,c.C1997T,p.P666L,SNP,SNVindel,exonic,HCN1,NA,nonsynonymous SNV,HCN1:NM_021072:exon8:c.C1997T:p.P666L,D,D,D,D,N,D
chr5,140554534,140554534,C,T,R005_S,PCDHB7,Silent,NM_018940,exon1,c.C2118T,p.F706F,SNP,SNVindel,exonic,PCDHB7,NA,synonymous SNV,PCDHB7:NM_018940:exon1:c.C2118T:p.F706F,NA,NA,NA,NA,NA,NA
chr6,45514666,45514666,C,A,R005_S,RUNX2,Missense_Mutation,NM_001278478,exon6,c.C1082A,p.T361N,SNP,SNVindel,exonic,RUNX2,NA,nonsynonymous SNV,"RUNX2:NM_001278478:exon6:c.C1082A:p.T361N,RUNX2:NM_001369405:exon7:c.C1148A:p.T383N,RUNX2:NM_001015051:exon8:c.C1124A:p.T375N,RUNX2:NM_001024630:exon9:c.C1190A:p.T397N",D,D,D,T,N,T
chr6,147012289,147012289,C,T,R005_S,ADGB,Missense_Mutation,NM_024694,exon11,c.C1349T,p.S450F,SNP,SNVindel,exonic,ADGB,NA,nonsynonymous SNV,ADGB:NM_024694:exon11:c.C1349T:p.S450F,D,N,D,T,D,T
chr6,161027579,161027579,G,A,R005_S,LPA,Silent,NM_005577,exon17,c.C2715T,p.D905D,SNP,SNVindel,exonic,LPA,NA,synonymous SNV,LPA:NM_005577:exon17:c.C2715T:p.D905D,NA,NA,NA,NA,NA,NA
chr7,21827032,21827032,T,C,R005_S,DNAH11,Missense_Mutation,NM_001277115,exon60,c.T9755C,p.L3252S,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon60:c.T9755C:p.L3252S,D,N,D,D,D,D
chr7,44152860,44152860,G,A,R005_S,AEBP1,Missense_Mutation,NM_001129,exon20,c.G2719A,p.G907S,SNP,SNVindel,exonic,AEBP1,NA,nonsynonymous SNV,AEBP1:NM_001129:exon20:c.G2719A:p.G907S,D,D,D,T,D,T
chr7,64864045,64864045,C,A,R005_S,ZNF92,Missense_Mutation,NM_001287534,exon2,c.C790A,p.P264T,SNP,SNVindel,exonic,ZNF92,NA,nonsynonymous SNV,"ZNF92:NM_001287534:exon2:c.C790A:p.P264T,ZNF92:NM_001287532:exon3:c.C922A:p.P308T,ZNF92:NM_007139:exon3:c.C811A:p.P271T,ZNF92:NM_152626:exon4:c.C1018A:p.P340T,ZNF92:NM_001287533:exon5:c.C790A:p.P264T",D,.,D,T,D,T
chr7,142574256,142574256,C,T,R005_S,TRPV6,Missense_Mutation,NM_018646,exon6,c.G787A,p.D263N,SNP,SNVindel,exonic,TRPV6,NA,nonsynonymous SNV,TRPV6:NM_018646:exon6:c.G787A:p.D263N,T,D,D,T,N,T
chr7,150269705,150269705,G,A,R005_S,GIMAP4,Missense_Mutation,NM_001363532,exon3,c.G589A,p.G197S,SNP,SNVindel,exonic,GIMAP4,NA,nonsynonymous SNV,"GIMAP4:NM_001363532:exon3:c.G589A:p.G197S,GIMAP4:NM_018326:exon3:c.G547A:p.G183S",T,N,N,T,D,T
chr7,154767459,154767459,T,C,R005_S,PAXIP1,Missense_Mutation,NM_007349,exon6,c.A1021G,p.I341V,SNP,SNVindel,exonic,PAXIP1,NA,nonsynonymous SNV,PAXIP1:NM_007349:exon6:c.A1021G:p.I341V,D,U,D,T,N,T
chr8,13356878,13356878,G,A,R005_S,DLC1,Nonsense_Mutation,NM_001348081,exon2,c.C703T,p.R235X,SNP,SNVindel,exonic,DLC1,NA,stopgain,"DLC1:NM_001348081:exon2:c.C703T:p.R235X,DLC1:NM_024767:exon2:c.C703T:p.R235X,DLC1:NM_182643:exon2:c.C703T:p.R235X",.,N,A,.,.,.
chr8,15605966,15605966,T,C,R005_S,TUSC3,Silent,NM_001356429,exon9,c.T1020C,p.Y340Y,SNP,SNVindel,exonic,TUSC3,NA,synonymous SNV,"TUSC3:NM_001356429:exon9:c.T1020C:p.Y340Y,TUSC3:NM_006765:exon9:c.T1020C:p.Y340Y,TUSC3:NM_178234:exon9:c.T1020C:p.Y340Y",NA,NA,NA,NA,NA,NA
chr8,56699135,56699135,A,G,R005_S,TGS1,Silent,NM_001317902,exon3,c.A399G,p.E133E,SNP,SNVindel,exonic,TGS1,NA,synonymous SNV,"TGS1:NM_001317902:exon3:c.A399G:p.E133E,TGS1:NM_001363184:exon3:c.A399G:p.E133E,TGS1:NM_024831:exon4:c.A678G:p.E226E",NA,NA,NA,NA,NA,NA
chr8,99441315,99441315,G,A,R005_S,KCNS2,Missense_Mutation,NM_020697,exon2,c.G1108A,p.V370I,SNP,SNVindel,exonic,KCNS2,NA,nonsynonymous SNV,KCNS2:NM_020697:exon2:c.G1108A:p.V370I,T,D,D,D,N,D
chr8,124987479,124987479,G,A,R005_S,FER1L6,Missense_Mutation,NM_001039112,exon8,c.G616A,p.V206I,SNP,SNVindel,exonic,FER1L6,NA,nonsynonymous SNV,FER1L6:NM_001039112:exon8:c.G616A:p.V206I,T,U,D,D,N,T
chr9,107289275,107289275,G,A,R005_S,OR13C4,Silent,NM_001001919,exon1,c.C216T,p.C72C,SNP,SNVindel,exonic,OR13C4,NA,synonymous SNV,OR13C4:NM_001001919:exon1:c.C216T:p.C72C,NA,NA,NA,NA,NA,NA
chr9,131484794,131484794,C,T,R005_S,ZDHHC12,Missense_Mutation,NM_001318015,exon2,c.G325A,p.V109M,SNP,SNVindel,exonic,ZDHHC12,NA,nonsynonymous SNV,"ZDHHC12:NM_001318015:exon2:c.G325A:p.V109M,ZDHHC12:NM_001318016:exon2:c.G160A:p.V54M,ZDHHC12:NM_001318020:exon2:c.G160A:p.V54M,ZDHHC12:NM_001318023:exon2:c.G160A:p.V54M,ZDHHC12:NM_032799:exon2:c.G160A:p.V54M",D,D,D,T,N,T
chr9,131804692,131804692,G,A,R005_S,MIGA2,Missense_Mutation,NM_001329990,exon3,c.G206A,p.R69Q,SNP,SNVindel,exonic,MIGA2,NA,nonsynonymous SNV,"MIGA2:NM_001329990:exon3:c.G206A:p.R69Q,MIGA2:NM_032809:exon3:c.G398A:p.R133Q",D,D,D,T,N,T
chr10,43870072,43870072,G,A,R005_S,FXYD4,Missense_Mutation,NM_001184963,exon5,c.G82A,p.D28N,SNP,SNVindel,exonic,FXYD4,NA,nonsynonymous SNV,"FXYD4:NM_001184963:exon5:c.G82A:p.D28N,FXYD4:NM_173160:exon5:c.G82A:p.D28N",.,N,N,T,.,T
chr11,6964440,6964440,C,T,R005_S,ZNF215,Missense_Mutation,NM_001354854,exon4,c.C610T,p.R204C,SNP,SNVindel,exonic,ZNF215,NA,nonsynonymous SNV,"ZNF215:NM_001354854:exon4:c.C610T:p.R204C,ZNF215:NM_001354853:exon5:c.C610T:p.R204C,ZNF215:NM_013250:exon5:c.C610T:p.R204C",D,N,N,T,N,T
chr11,46637342,46637342,T,C,R005_S,HARBI1,Missense_Mutation,NM_173811,exon2,c.A446G,p.D149G,SNP,SNVindel,exonic,HARBI1,NA,nonsynonymous SNV,HARBI1:NM_173811:exon2:c.A446G:p.D149G,T,D,D,.,D,T
chr12,5963272,5963272,G,A,R005_S,ANO2,Silent,NM_001278596,exon4,c.C570T,p.H190H,SNP,SNVindel,exonic,ANO2,NA,synonymous SNV,"ANO2:NM_001278596:exon4:c.C570T:p.H190H,ANO2:NM_001278597:exon4:c.C558T:p.H186H,ANO2:NM_001364791:exon4:c.C570T:p.H190H",NA,NA,NA,NA,NA,NA
chr12,56648376,56648376,G,A,R005_S,ANKRD52,Missense_Mutation,NM_173595,exon7,c.C679T,p.R227W,SNP,SNVindel,exonic,ANKRD52,NA,nonsynonymous SNV,ANKRD52:NM_173595:exon7:c.C679T:p.R227W,D,D,D,T,D,T
chr12,112528533,112528533,G,A,R005_S,NAA25,Nonsense_Mutation,NM_024953,exon3,c.C280T,p.R94X,SNP,SNVindel,exonic,NAA25,NA,stopgain,NAA25:NM_024953:exon3:c.C280T:p.R94X,.,D,A,.,.,.
chr13,103396160,103396160,C,T,R005_S,CCDC168,Missense_Mutation,NM_001146197,exon4,c.G6887A,p.C2296Y,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.G6887A:p.C2296Y,.,.,.,.,.,.
chr14,94936083,94936083,C,T,R005_S,SERPINA9,Missense_Mutation,NM_001042518,exon2,c.G95A,p.R32H,SNP,SNVindel,exonic,SERPINA9,NA,nonsynonymous SNV,"SERPINA9:NM_001042518:exon2:c.G95A:p.R32H,SERPINA9:NM_175739:exon2:c.G95A:p.R32H",D,N,N,D,N,T
chr14,101198504,101198504,C,T,R005_S,DLK1,Missense_Mutation,NM_001317172,exon4,c.C388T,p.P130S,SNP,SNVindel,exonic,DLK1,NA,nonsynonymous SNV,"DLK1:NM_001317172:exon4:c.C388T:p.P130S,DLK1:NM_003836:exon4:c.C388T:p.P130S",D,D,D,D,D,D
chr15,40683720,40683720,C,T,R005_S,KNSTRN,Nonsense_Mutation,NM_001142761,exon7,c.C712T,p.R238X,SNP,SNVindel,exonic,KNSTRN,NA,stopgain,"KNSTRN:NM_001142761:exon7:c.C712T:p.R238X,KNSTRN:NM_033286:exon7:c.C712T:p.R238X",.,N,A,.,.,.
chr15,72021003,72021003,G,A,R005_S,THSD4,Silent,NM_001286429,exon3,c.G393A,p.S131S,SNP,SNVindel,exonic,THSD4,NA,synonymous SNV,"THSD4:NM_001286429:exon3:c.G393A:p.S131S,THSD4:NM_024817:exon8:c.G1473A:p.S491S",NA,NA,NA,NA,NA,NA
chr15,72040918,72040918,C,T,R005_S,THSD4,Silent,NM_001286429,exon8,c.C1320T,p.T440T,SNP,SNVindel,exonic,THSD4,NA,synonymous SNV,"THSD4:NM_001286429:exon8:c.C1320T:p.T440T,THSD4:NM_024817:exon13:c.C2400T:p.T800T",NA,NA,NA,NA,NA,NA
chr15,79177324,79177324,C,T,R005_S,MORF4L1,Silent,NM_206839,exon4,c.C171T,p.P57P,SNP,SNVindel,exonic,MORF4L1,NA,synonymous SNV,MORF4L1:NM_206839:exon4:c.C171T:p.P57P,NA,NA,NA,NA,NA,NA
chr15,89820092,89820092,C,T,R005_S,FANCI,Silent,NM_001113378,exon13,c.C1263T,p.L421L,SNP,SNVindel,exonic,FANCI,NA,synonymous SNV,"FANCI:NM_001113378:exon13:c.C1263T:p.L421L,FANCI:NM_018193:exon13:c.C1263T:p.L421L",NA,NA,NA,NA,NA,NA
chr16,3340322,3340322,A,G,R005_S,ZNF263,Missense_Mutation,NM_005741,exon6,c.A1816G,p.T606A,SNP,SNVindel,exonic,ZNF263,NA,nonsynonymous SNV,ZNF263:NM_005741:exon6:c.A1816G:p.T606A,T,N,N,T,N,T
chr16,15703569,15703569,A,G,R005_S,MARF1,Silent,NM_001184998,exon20,c.T3765C,p.D1255D,SNP,SNVindel,exonic,MARF1,NA,synonymous SNV,"MARF1:NM_001184998:exon20:c.T3765C:p.D1255D,MARF1:NM_001184999:exon20:c.T3756C:p.D1252D,MARF1:NM_014647:exon20:c.T3765C:p.D1255D",NA,NA,NA,NA,NA,NA
chr16,30991340,30991340,G,A,R005_S,SETD1A,Silent,NM_014712,exon14,c.G4233A,p.P1411P,SNP,SNVindel,exonic,SETD1A,NA,synonymous SNV,SETD1A:NM_014712:exon14:c.G4233A:p.P1411P,NA,NA,NA,NA,NA,NA
chr16,74761269,74761269,G,A,R005_S,FA2H,Nonsense_Mutation,NM_024306,exon3,c.C379T,p.R127X,SNP,SNVindel,exonic,FA2H,NA,stopgain,FA2H:NM_024306:exon3:c.C379T:p.R127X,.,N,A,.,.,.
chr17,39261693,39261693,A,T,R005_S,KRTAP4-9,Missense_Mutation,NM_001146041,exon1,c.A53T,p.D18V,SNP,SNVindel,exonic,KRTAP4-9,NA,nonsynonymous SNV,KRTAP4-9:NM_001146041:exon1:c.A53T:p.D18V,T,.,P,T,N,T
chr17,39580449,39580449,C,A,R005_S,KRT37,Missense_Mutation,NM_003770,exon1,c.G327T,p.K109N,SNP,SNVindel,exonic,KRT37,NA,nonsynonymous SNV,KRT37:NM_003770:exon1:c.G327T:p.K109N,D,N,N,D,N,T
chr17,51901039,51901039,C,T,R005_S,KIF2B,Silent,NM_032559,exon1,c.C645T,p.C215C,SNP,SNVindel,exonic,KIF2B,NA,synonymous SNV,KIF2B:NM_032559:exon1:c.C645T:p.C215C,NA,NA,NA,NA,NA,NA
chr18,10530813,10530813,G,T,R005_S,NAPG,Missense_Mutation,NM_003826,exon2,c.G103T,p.A35S,SNP,SNVindel,exonic,NAPG,NA,nonsynonymous SNV,NAPG:NM_003826:exon2:c.G103T:p.A35S,D,D,D,T,N,D
chr19,2877513,2877513,G,A,R005_S,ZNF556,Missense_Mutation,NM_001300843,exon4,c.G554A,p.R185H,SNP,SNVindel,exonic,ZNF556,NA,nonsynonymous SNV,"ZNF556:NM_001300843:exon4:c.G554A:p.R185H,ZNF556:NM_024967:exon4:c.G557A:p.R186H",T,.,N,T,N,T
chr19,4504529,4504529,T,C,R005_S,PLIN4,Missense_Mutation,NM_001367868,exon8,c.A4058G,p.H1353R,SNP,SNVindel,exonic,PLIN4,NA,nonsynonymous SNV,PLIN4:NM_001367868:exon8:c.A4058G:p.H1353R,T,U,N,T,D,T
chr19,18182951,18182951,G,A,R005_S,IL12RB1,Missense_Mutation,NM_001290023,exon9,c.C992T,p.T331M,SNP,SNVindel,exonic,IL12RB1,NA,nonsynonymous SNV,"IL12RB1:NM_001290023:exon9:c.C992T:p.T331M,IL12RB1:NM_005535:exon9:c.C992T:p.T331M,IL12RB1:NM_153701:exon9:c.C992T:p.T331M,IL12RB1:NM_001290024:exon10:c.C1112T:p.T371M",.,N,N,T,N,T
chr19,44006322,44006322,C,A,R005_S,PHLDB3,Missense_Mutation,NM_198850,exon3,c.G327T,p.L109F,SNP,SNVindel,exonic,PHLDB3,NA,nonsynonymous SNV,PHLDB3:NM_198850:exon3:c.G327T:p.L109F,D,N,N,T,D,T
chr19,51330990,51330990,C,T,R005_S,KLK15,Missense_Mutation,NM_001277081,exon2,c.G122A,p.R41H,SNP,SNVindel,exonic,KLK15,NA,nonsynonymous SNV,"KLK15:NM_001277081:exon2:c.G122A:p.R41H,KLK15:NM_001277082:exon2:c.G122A:p.R41H,KLK15:NM_017509:exon2:c.G125A:p.R42H",.,N,N,D,.,T
chr19,51729331,51729331,G,A,R005_S,CD33,Missense_Mutation,NM_001082618,exon2,c.G310A,p.V104I,SNP,SNVindel,exonic,CD33,NA,nonsynonymous SNV,"CD33:NM_001082618:exon2:c.G310A:p.V104I,CD33:NM_001177608:exon3:c.G691A:p.V231I,CD33:NM_001772:exon3:c.G691A:p.V231I",T,U,N,T,N,T
chr19,55720786,55720786,C,T,R005_S,PTPRH,Missense_Mutation,NM_001161440,exon1,c.G16A,p.G6R,SNP,SNVindel,exonic,PTPRH,NA,nonsynonymous SNV,"PTPRH:NM_001161440:exon1:c.G16A:p.G6R,PTPRH:NM_002842:exon1:c.G16A:p.G6R",T,.,N,T,N,T
chr20,13867034,13867034,G,A,R005_S,SEL1L2,Missense_Mutation,NM_001271539,exon9,c.C800T,p.T267M,SNP,SNVindel,exonic,SEL1L2,NA,nonsynonymous SNV,"SEL1L2:NM_001271539:exon9:c.C800T:p.T267M,SEL1L2:NM_001363752:exon9:c.C464T:p.T155M,SEL1L2:NM_025229:exon9:c.C800T:p.T267M",T,D,D,T,N,T
chr20,49214181,49214181,C,T,R005_S,RIPOR3,Missense_Mutation,NM_001290268,exon14,c.G1726A,p.A576T,SNP,SNVindel,exonic,RIPOR3,NA,nonsynonymous SNV,"RIPOR3:NM_001290268:exon14:c.G1726A:p.A576T,RIPOR3:NM_080829:exon14:c.G1714A:p.A572T",T,D,N,T,N,T
chr22,26860352,26860352,G,A,R005_S,HPS4,Missense_Mutation,NM_152841,exon9,c.C1229T,p.T410M,SNP,SNVindel,exonic,HPS4,NA,nonsynonymous SNV,"HPS4:NM_152841:exon9:c.C1229T:p.T410M,HPS4:NM_001349896:exon11:c.C1244T:p.T415M,HPS4:NM_001349899:exon11:c.C1244T:p.T415M,HPS4:NM_001349902:exon11:c.C1244T:p.T415M,HPS4:NM_001349903:exon11:c.C1244T:p.T415M,HPS4:NM_001349904:exon11:c.C1244T:p.T415M,HPS4:NM_001349905:exon11:c.C1244T:p.T415M,HPS4:NM_022081:exon11:c.C1244T:p.T415M,HPS4:NM_001349898:exon12:c.C1244T:p.T415M,HPS4:NM_001349900:exon12:c.C1298T:p.T433M,HPS4:NM_001349901:exon12:c.C1298T:p.T433M",T,N,N,T,N,T
chr22,51142614,51142614,A,C,R005_S,SHANK3,Missense_Mutation,NM_033517,exon14,c.A1667C,p.K556T,SNP,SNVindel,exonic,SHANK3,NA,nonsynonymous SNV,SHANK3:NM_033517:exon14:c.A1667C:p.K556T,NA,NA,NA,NA,NA,NA
chrX,3235404,3235404,C,T,R005_S,MXRA5,Silent,NM_015419,exon6,c.G6318A,p.T2106T,SNP,SNVindel,exonic,MXRA5,NA,synonymous SNV,MXRA5:NM_015419:exon6:c.G6318A:p.T2106T,NA,NA,NA,NA,NA,NA
chrX,55026955,55026955,C,T,R005_S,APEX2,Missense_Mutation,NM_014481,exon1,c.C100T,p.R34C,SNP,SNVindel,exonic,APEX2,NA,nonsynonymous SNV,APEX2:NM_014481:exon1:c.C100T:p.R34C,D,N,D,T,D,D
chrX,67942430,67942430,G,A,R005_S,STARD8,Missense_Mutation,NM_001142504,exon11,c.G2501A,p.R834H,SNP,SNVindel,exonic,STARD8,NA,nonsynonymous SNV,"STARD8:NM_001142504:exon11:c.G2501A:p.R834H,STARD8:NM_014725:exon11:c.G2501A:p.R834H,STARD8:NM_001142503:exon12:c.G2741A:p.R914H",D,N,D,T,D,T
chrX,107037604,107037604,G,A,R005_S,NCBP2L,Missense_Mutation,NM_001348372,exon2,c.G154A,p.E52K,SNP,SNVindel,exonic,NCBP2L,NA,nonsynonymous SNV,NCBP2L:NM_001348372:exon2:c.G154A:p.E52K,.,U,D,.,.,T
chrX,153195633,153195633,A,G,R005_S,NAA10,Missense_Mutation,NM_001256119,exon7,c.T470C,p.V157A,SNP,SNVindel,exonic,NAA10,NA,nonsynonymous SNV,"NAA10:NM_001256119:exon7:c.T470C:p.V157A,NAA10:NM_001256120:exon8:c.T497C:p.V166A,NAA10:NM_003491:exon8:c.T515C:p.V172A",T,N,N,T,N,T
chr1,22191386,22191386,C,A,R006_F,HSPG2,Nonsense_Mutation,NM_001291860,exon36,c.G4579T,p.E1527X,SNP,SNVindel,exonic,HSPG2,NA,stopgain,"HSPG2:NM_001291860:exon36:c.G4579T:p.E1527X,HSPG2:NM_005529:exon36:c.G4576T:p.E1526X",.,N,A,.,.,.
chr1,46493425,46493425,C,A,R006_F,MAST2,Missense_Mutation,NM_001319245,exon17,c.C1942A,p.H648N,SNP,SNVindel,exonic,MAST2,NA,nonsynonymous SNV,"MAST2:NM_001319245:exon17:c.C1942A:p.H648N,MAST2:NM_001324321:exon17:c.C1480A:p.H494N,MAST2:NM_015112:exon17:c.C1942A:p.H648N,MAST2:NM_001324320:exon18:c.C1963A:p.H655N",D,D,D,T,D,T
chr1,158617491,158617491,G,C,R006_F,SPTA1,Missense_Mutation,NM_003126,exon27,c.C3734G,p.T1245R,SNP,SNVindel,exonic,SPTA1,NA,nonsynonymous SNV,SPTA1:NM_003126:exon27:c.C3734G:p.T1245R,T,N,D,T,D,T
chr1,204124181,204124181,C,T,R006_F,REN,Missense_Mutation,NM_000537,exon10,c.G1184A,p.R395Q,SNP,SNVindel,exonic,REN,NA,nonsynonymous SNV,REN:NM_000537:exon10:c.G1184A:p.R395Q,D,D,D,T,D,D
chr2,21233487,21233487,G,A,R006_F,APOB,Nonsense_Mutation,NM_000384,exon26,c.C6253T,p.R2085X,SNP,SNVindel,exonic,APOB,NA,stopgain,APOB:NM_000384:exon26:c.C6253T:p.R2085X,.,N,A,.,.,.
chr2,71795212,71795212,C,T,R006_F,DYSF,Silent,NM_001130976,exon24,c.C2601T,p.T867T,SNP,SNVindel,exonic,DYSF,NA,synonymous SNV,"DYSF:NM_001130976:exon24:c.C2601T:p.T867T,DYSF:NM_001130977:exon24:c.C2601T:p.T867T,DYSF:NM_001130984:exon24:c.C2604T:p.T868T,DYSF:NM_001130986:exon24:c.C2604T:p.T868T,DYSF:NM_001130455:exon25:c.C2646T:p.T882T,DYSF:NM_001130978:exon25:c.C2643T:p.T881T,DYSF:NM_001130980:exon25:c.C2694T:p.T898T,DYSF:NM_001130981:exon25:c.C2694T:p.T898T,DYSF:NM_001130983:exon25:c.C2646T:p.T882T,DYSF:NM_001130985:exon25:c.C2697T:p.T899T,DYSF:NM_001130987:exon25:c.C2697T:p.T899T,DYSF:NM_003494:exon25:c.C2643T:p.T881T,DYSF:NM_001130979:exon26:c.C2736T:p.T912T,DYSF:NM_001130982:exon26:c.C2739T:p.T913T",NA,NA,NA,NA,NA,NA
chr2,226446733,226446733,C,G,R006_F,NYAP2,Missense_Mutation,NM_020864,exon4,c.C600G,p.N200K,SNP,SNVindel,exonic,NYAP2,NA,nonsynonymous SNV,"NYAP2:NM_020864:exon4:c.C600G:p.N200K,NYAP2:NM_001371273:exon5:c.C600G:p.N200K",D,D,D,T,D,T
chr4,20715155,20715155,T,G,R006_F,PACRGL,Missense_Mutation,NM_001130727,exon4,c.T308G,p.L103R,SNP,SNVindel,exonic,PACRGL,NA,nonsynonymous SNV,"PACRGL:NM_001130727:exon4:c.T308G:p.L103R,PACRGL:NM_001258346:exon5:c.T443G:p.L148R,PACRGL:NM_001317849:exon5:c.T443G:p.L148R,PACRGL:NM_001330745:exon5:c.T443G:p.L148R,PACRGL:NM_001330746:exon5:c.T443G:p.L148R,PACRGL:NM_001330747:exon5:c.T443G:p.L148R,PACRGL:NM_001330748:exon5:c.T443G:p.L148R,PACRGL:NM_001258345:exon7:c.T602G:p.L201R,PACRGL:NM_145048:exon7:c.T602G:p.L201R",D,D,D,T,D,D
chr4,169196590,169196590,C,T,R006_F,DDX60,Missense_Mutation,NM_017631,exon16,c.G2210A,p.R737Q,SNP,SNVindel,exonic,DDX60,NA,nonsynonymous SNV,DDX60:NM_017631:exon16:c.G2210A:p.R737Q,D,N,N,T,D,T
chr5,67589138,67589138,G,A,R006_F,PIK3R1,Missense_Mutation,NM_001242466,exon3,c.G37A,p.G13R,SNP,SNVindel,exonic,PIK3R1,NA,nonsynonymous SNV,"PIK3R1:NM_001242466:exon3:c.G37A:p.G13R,PIK3R1:NM_181504:exon4:c.G316A:p.G106R,PIK3R1:NM_181524:exon4:c.G226A:p.G76R,PIK3R1:NM_181523:exon10:c.G1126A:p.G376R",D,D,D,T,D,D
chr6,106968516,106968516,G,A,R006_F,CRYBG1,Missense_Mutation,NM_001624,exon2,c.G2209A,p.E737K,SNP,SNVindel,exonic,CRYBG1,NA,nonsynonymous SNV,"CRYBG1:NM_001624:exon2:c.G2209A:p.E737K,CRYBG1:NM_001371242:exon4:c.G3433A:p.E1145K",D,N,D,D,D,D
chr7,5364831,5364831,G,T,R006_F,TNRC18,Silent,NM_001080495,exon20,c.C6196A,p.R2066R,SNP,SNVindel,exonic,TNRC18,NA,synonymous SNV,TNRC18:NM_001080495:exon20:c.C6196A:p.R2066R,NA,NA,NA,NA,NA,NA
chr7,82582324,82582324,A,G,R006_F,PCLO,Missense_Mutation,NM_014510,exon5,c.T7945C,p.S2649P,SNP,SNVindel,exonic,PCLO,NA,nonsynonymous SNV,"PCLO:NM_014510:exon5:c.T7945C:p.S2649P,PCLO:NM_033026:exon5:c.T7945C:p.S2649P",D,.,N,T,N,T
chr7,126746649,126746649,C,T,R006_F,GRM8,Missense_Mutation,NM_001371087,exon2,c.G13A,p.V5M,SNP,SNVindel,exonic,GRM8,NA,nonsynonymous SNV,"GRM8:NM_001371087:exon2:c.G13A:p.V5M,GRM8:NM_000845:exon3:c.G628A:p.V210M,GRM8:NM_001127323:exon3:c.G628A:p.V210M,GRM8:NM_001371084:exon3:c.G628A:p.V210M,GRM8:NM_001371085:exon3:c.G628A:p.V210M,GRM8:NM_001371086:exon3:c.G628A:p.V210M,GRM8:NM_001371088:exon3:c.G628A:p.V210M,GRM8:NM_001371083:exon4:c.G628A:p.V210M",D,D,D,D,N,D
chr7,157931202,157931202,G,A,R006_F,PTPRN2,Missense_Mutation,NM_001308267,exon6,c.C802T,p.R268W,SNP,SNVindel,exonic,PTPRN2,NA,nonsynonymous SNV,"PTPRN2:NM_001308267:exon6:c.C802T:p.R268W,PTPRN2:NM_130842:exon6:c.C865T:p.R289W,PTPRN2:NM_001308268:exon7:c.C985T:p.R329W,PTPRN2:NM_002847:exon7:c.C916T:p.R306W,PTPRN2:NM_130843:exon7:c.C916T:p.R306W",D,.,N,T,N,T
chr8,17743043,17743043,G,A,R006_F,FGL1,Silent,NM_004467,exon2,c.C21T,p.F7F,SNP,SNVindel,exonic,FGL1,NA,synonymous SNV,"FGL1:NM_004467:exon2:c.C21T:p.F7F,FGL1:NM_147203:exon2:c.C21T:p.F7F,FGL1:NM_201552:exon3:c.C21T:p.F7F,FGL1:NM_201553:exon3:c.C21T:p.F7F",NA,NA,NA,NA,NA,NA
chr11,67789060,67789060,C,T,R006_F,ALDH3B1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ALDH3B1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,118263608,118263608,C,A,R006_F,UBE4A,Silent,NM_001204077,exon19,c.C3072A,p.L1024L,SNP,SNVindel,exonic,UBE4A,NA,synonymous SNV,"UBE4A:NM_001204077:exon19:c.C3072A:p.L1024L,UBE4A:NM_004788:exon19:c.C3093A:p.L1031L",NA,NA,NA,NA,NA,NA
chr12,675125,675125,C,T,R006_F,NINJ2,Missense_Mutation,NM_001294345,exon2,c.G232A,p.V78M,SNP,SNVindel,exonic,NINJ2,NA,nonsynonymous SNV,"NINJ2:NM_001294345:exon2:c.G232A:p.V78M,NINJ2:NM_001294346:exon2:c.G145A:p.V49M,NINJ2:NM_016533:exon2:c.G253A:p.V85M,NINJ2:NM_001367996:exon3:c.G145A:p.V49M",D,D,D,T,N,T
chr12,98928103,98928103,C,A,R006_F,TMPO,Missense_Mutation,NM_003276,exon4,c.C2068A,p.R690S,SNP,SNVindel,exonic,TMPO,NA,nonsynonymous SNV,TMPO:NM_003276:exon4:c.C2068A:p.R690S,D,N,D,T,N,T
chr13,45523879,45523879,T,C,R006_F,NUFIP1,Silent,NM_012345,exon8,c.A1116G,p.S372S,SNP,SNVindel,exonic,NUFIP1,NA,synonymous SNV,NUFIP1:NM_012345:exon8:c.A1116G:p.S372S,NA,NA,NA,NA,NA,NA
chr14,22038134,22038134,C,T,R006_F,OR10G3,Missense_Mutation,NM_001005465,exon1,c.G742A,p.V248M,SNP,SNVindel,exonic,OR10G3,NA,nonsynonymous SNV,OR10G3:NM_001005465:exon1:c.G742A:p.V248M,D,N,N,T,N,T
chr14,75022300,75022300,C,A,R006_F,LTBP2,Missense_Mutation,NM_000428,exon4,c.G927T,p.Q309H,SNP,SNVindel,exonic,LTBP2,NA,nonsynonymous SNV,LTBP2:NM_000428:exon4:c.G927T:p.Q309H,D,U,N,T,N,T
chr14,88693721,88693721,G,T,R006_F,KCNK10,Silent,NM_021161,exon4,c.C664A,p.R222R,SNP,SNVindel,exonic,KCNK10,NA,synonymous SNV,"KCNK10:NM_021161:exon4:c.C664A:p.R222R,KCNK10:NM_138317:exon4:c.C679A:p.R227R,KCNK10:NM_138318:exon4:c.C679A:p.R227R",NA,NA,NA,NA,NA,NA
chr14,105416323,105416323,T,C,R006_F,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.A5165G,p.K1722R,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.A5165G:p.K1722R,AHNAK2:NM_138420:exon7:c.A5465G:p.K1822R",D,.,D,T,N,T
chr15,64497068,64497068,A,G,R006_F,CSNK1G1,Silent,NM_001329605,exon8,c.T846C,p.F282F,SNP,SNVindel,exonic,CSNK1G1,NA,synonymous SNV,"CSNK1G1:NM_001329605:exon8:c.T846C:p.F282F,CSNK1G1:NM_001329606:exon8:c.T846C:p.F282F,CSNK1G1:NM_001329607:exon8:c.T846C:p.F282F,CSNK1G1:NM_022048:exon8:c.T846C:p.F282F",NA,NA,NA,NA,NA,NA
chr16,1821515,1821515,G,A,R006_F,NME3,Silent,NM_002513,exon1,c.C21T,p.T7T,SNP,SNVindel,exonic,NME3,NA,synonymous SNV,NME3:NM_002513:exon1:c.C21T:p.T7T,NA,NA,NA,NA,NA,NA
chr16,21709177,21709177,C,T,R006_F,OTOA,Missense_Mutation,NM_001161683,exon5,c.C584T,p.T195M,SNP,SNVindel,exonic,OTOA,NA,nonsynonymous SNV,"OTOA:NM_001161683:exon5:c.C584T:p.T195M,OTOA:NM_144672:exon10:c.C821T:p.T274M",T,N,N,T,N,T
chr17,3844431,3844431,G,A,R006_F,ATP2A3,Missense_Mutation,NM_005173,exon14,c.C1934T,p.T645M,SNP,SNVindel,exonic,ATP2A3,NA,nonsynonymous SNV,"ATP2A3:NM_005173:exon14:c.C1934T:p.T645M,ATP2A3:NM_174953:exon14:c.C1934T:p.T645M,ATP2A3:NM_174954:exon14:c.C1934T:p.T645M,ATP2A3:NM_174955:exon14:c.C1934T:p.T645M,ATP2A3:NM_174956:exon14:c.C1934T:p.T645M,ATP2A3:NM_174957:exon14:c.C1934T:p.T645M,ATP2A3:NM_174958:exon14:c.C1934T:p.T645M",D,N,N,D,N,D
chr17,8661601,8661601,C,T,R006_F,SPDYE4,Missense_Mutation,NM_001128076,exon1,c.G100A,p.G34R,SNP,SNVindel,exonic,SPDYE4,NA,nonsynonymous SNV,SPDYE4:NM_001128076:exon1:c.G100A:p.G34R,D,N,N,.,D,T
chr18,6978338,6978338,G,A,R006_F,LAMA1,Missense_Mutation,NM_005559,exon43,c.C6047T,p.T2016M,SNP,SNVindel,exonic,LAMA1,NA,nonsynonymous SNV,LAMA1:NM_005559:exon43:c.C6047T:p.T2016M,T,N,N,T,N,T
chr19,4324566,4324566,C,A,R006_F,STAP2,Missense_Mutation,NM_017720,exon12,c.G1171T,p.V391L,SNP,SNVindel,exonic,STAP2,NA,nonsynonymous SNV,STAP2:NM_017720:exon12:c.G1171T:p.V391L,.,.,N,T,.,T
chr19,22363796,22363796,A,G,R006_F,ZNF676,Silent,NM_001001411,exon3,c.T723C,p.T241T,SNP,SNVindel,exonic,ZNF676,NA,synonymous SNV,ZNF676:NM_001001411:exon3:c.T723C:p.T241T,NA,NA,NA,NA,NA,NA
chr19,48343047,48343047,C,T,R006_F,CRX,Silent,NM_000554,exon4,c.C723T,p.S241S,SNP,SNVindel,exonic,CRX,NA,synonymous SNV,CRX:NM_000554:exon4:c.C723T:p.S241S,NA,NA,NA,NA,NA,NA
chr20,31481068,31481068,T,C,R006_F,EFCAB8,Missense_Mutation,NM_001143967,exon9,c.T847C,p.F283L,SNP,SNVindel,exonic,EFCAB8,NA,nonsynonymous SNV,EFCAB8:NM_001143967:exon9:c.T847C:p.F283L,D,.,.,.,D,.
chr20,40161745,40161745,G,T,R006_F,CHD6,Silent,NM_032221,exon3,c.C498A,p.A166A,SNP,SNVindel,exonic,CHD6,NA,synonymous SNV,CHD6:NM_032221:exon3:c.C498A:p.A166A,NA,NA,NA,NA,NA,NA
chr21,43547856,43547856,T,A,R006_F,UMODL1,Missense_Mutation,NM_001199527,exon19,c.T3773A,p.I1258N,SNP,SNVindel,exonic,UMODL1,NA,nonsynonymous SNV,"UMODL1:NM_001199527:exon19:c.T3773A:p.I1258N,UMODL1:NM_173568:exon19:c.T3989A:p.I1330N,UMODL1:NM_001004416:exon20:c.T3605A:p.I1202N,UMODL1:NM_001199528:exon20:c.T3389A:p.I1130N",D,N,D,D,D,D
chr22,31289715,31289715,C,T,R006_F,OSBP2,Missense_Mutation,NM_001282742,exon9,c.C817T,p.R273W,SNP,SNVindel,exonic,OSBP2,NA,nonsynonymous SNV,"OSBP2:NM_001282742:exon9:c.C817T:p.R273W,OSBP2:NM_001282740:exon10:c.C1084T:p.R362W,OSBP2:NM_001282741:exon10:c.C1411T:p.R471W,OSBP2:NM_001282739:exon11:c.C2182T:p.R728W,OSBP2:NM_030758:exon11:c.C2185T:p.R729W,OSBP2:NM_001282738:exon12:c.C1687T:p.R563W",D,D,D,T,D,T
chrX,27766581,27766581,T,A,R006_F,DCAF8L2,Silent,NM_001353450,exon5,c.T1569A,p.P523P,SNP,SNVindel,exonic,DCAF8L2,NA,synonymous SNV,"DCAF8L2:NM_001353450:exon5:c.T1569A:p.P523P,DCAF8L2:NM_001353449:exon6:c.T1569A:p.P523P,DCAF8L2:NM_001353448:exon7:c.T1569A:p.P523P",NA,NA,NA,NA,NA,NA
chrX,67940778,67940778,C,T,R006_F,STARD8,Missense_Mutation,NM_001142504,exon8,c.C1822T,p.R608C,SNP,SNVindel,exonic,STARD8,NA,nonsynonymous SNV,"STARD8:NM_001142504:exon8:c.C1822T:p.R608C,STARD8:NM_014725:exon8:c.C1822T:p.R608C,STARD8:NM_001142503:exon9:c.C2062T:p.R688C",D,D,D,T,D,T
chr1,28476632,28476632,G,A,R006_S,PTAFR,Missense_Mutation,NM_000952,exon2,c.C901T,p.R301C,SNP,SNVindel,exonic,PTAFR,NA,nonsynonymous SNV,"PTAFR:NM_000952:exon2:c.C901T:p.R301C,PTAFR:NM_001164722:exon2:c.C901T:p.R301C,PTAFR:NM_001164721:exon3:c.C901T:p.R301C,PTAFR:NM_001164723:exon3:c.C901T:p.R301C",D,D,D,T,D,T
chr1,46089259,46089259,A,G,R006_S,CCDC17,Silent,NM_001114938,exon2,c.T240C,p.S80S,SNP,SNVindel,exonic,CCDC17,NA,synonymous SNV,"CCDC17:NM_001114938:exon2:c.T240C:p.S80S,CCDC17:NM_001190182:exon2:c.T240C:p.S80S",NA,NA,NA,NA,NA,NA
chr1,47904138,47904138,G,T,R006_S,FOXD2,Missense_Mutation,NM_004474,exon1,c.G331T,p.G111W,SNP,SNVindel,exonic,FOXD2,NA,nonsynonymous SNV,FOXD2:NM_004474:exon1:c.G331T:p.G111W,D,U,N,D,N,T
chr1,66384310,66384310,A,G,R006_S,PDE4B,Missense_Mutation,NM_001037341,exon3,c.A73G,p.S25G,SNP,SNVindel,exonic,PDE4B,NA,nonsynonymous SNV,"PDE4B:NM_001037341:exon3:c.A73G:p.S25G,PDE4B:NM_002600:exon3:c.A73G:p.S25G",D,N,D,T,N,T
chr1,90400436,90400436,C,T,R006_S,LRRC8D,Silent,NM_001134479,exon3,c.C1809T,p.P603P,SNP,SNVindel,exonic,LRRC8D,NA,synonymous SNV,"LRRC8D:NM_001134479:exon3:c.C1809T:p.P603P,LRRC8D:NM_018103:exon3:c.C1809T:p.P603P",NA,NA,NA,NA,NA,NA
chr1,152185804,152185804,G,T,R006_S,HRNR,Silent,NM_001009931,exon3,c.C8301A,p.G2767G,SNP,SNVindel,exonic,HRNR,NA,synonymous SNV,HRNR:NM_001009931:exon3:c.C8301A:p.G2767G,NA,NA,NA,NA,NA,NA
chr1,152185814,152185814,G,A,R006_S,HRNR,Missense_Mutation,NM_001009931,exon3,c.C8291T,p.A2764V,SNP,SNVindel,exonic,HRNR,NA,nonsynonymous SNV,HRNR:NM_001009931:exon3:c.C8291T:p.A2764V,D,.,N,T,N,T
chr1,156438013,156438013,C,T,R006_S,MEF2D,Silent,NM_001271629,exon10,c.G1305A,p.P435P,SNP,SNVindel,exonic,MEF2D,NA,synonymous SNV,"MEF2D:NM_001271629:exon10:c.G1305A:p.P435P,MEF2D:NM_005920:exon11:c.G1326A:p.P442P",NA,NA,NA,NA,NA,NA
chr1,160719819,160719819,C,T,R006_S,SLAMF7,Silent,NM_001282590,exon2,c.C264T,p.C88C,SNP,SNVindel,exonic,SLAMF7,NA,synonymous SNV,"SLAMF7:NM_001282590:exon2:c.C264T:p.C88C,SLAMF7:NM_001282591:exon2:c.C264T:p.C88C,SLAMF7:NM_001282593:exon2:c.C264T:p.C88C,SLAMF7:NM_001282594:exon2:c.C264T:p.C88C,SLAMF7:NM_001282595:exon2:c.C183T:p.C61C,SLAMF7:NM_001282596:exon2:c.C264T:p.C88C,SLAMF7:NM_001282592:exon3:c.C585T:p.C195C,SLAMF7:NM_021181:exon3:c.C585T:p.C195C",NA,NA,NA,NA,NA,NA
chr1,181701601,181701601,C,G,R006_S,CACNA1E,Missense_Mutation,NM_001205294,exon19,c.C2322G,p.S774R,SNP,SNVindel,exonic,CACNA1E,NA,nonsynonymous SNV,"CACNA1E:NM_001205294:exon19:c.C2322G:p.S774R,CACNA1E:NM_000721:exon20:c.C2379G:p.S793R,CACNA1E:NM_001205293:exon20:c.C2379G:p.S793R",D,N,D,D,D,D
chr1,185969301,185969301,T,A,R006_S,HMCN1,Missense_Mutation,NM_031935,exon26,c.T3999A,p.N1333K,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon26:c.T3999A:p.N1333K,T,D,D,T,N,T
chr1,202407215,202407215,C,G,R006_S,PPP1R12B,Missense_Mutation,NM_001167857,exon10,c.C1521G,p.I507M,SNP,SNVindel,exonic,PPP1R12B,NA,nonsynonymous SNV,PPP1R12B:NM_001167857:exon10:c.C1521G:p.I507M,D,.,N,T,N,T
chr1,204124181,204124181,C,T,R006_S,REN,Missense_Mutation,NM_000537,exon10,c.G1184A,p.R395Q,SNP,SNVindel,exonic,REN,NA,nonsynonymous SNV,REN:NM_000537:exon10:c.G1184A:p.R395Q,D,D,D,T,D,D
chr1,207648504,207648504,A,T,R006_S,CR2,Missense_Mutation,NM_001877,exon13,c.A2482T,p.I828F,SNP,SNVindel,exonic,CR2,NA,nonsynonymous SNV,"CR2:NM_001877:exon13:c.A2482T:p.I828F,CR2:NM_001006658:exon14:c.A2659T:p.I887F",D,.,N,T,D,T
chr1,207851555,207851555,G,A,R006_S,CR1L,Missense_Mutation,NM_175710,exon3,c.G290A,p.R97H,SNP,SNVindel,exonic,CR1L,NA,nonsynonymous SNV,CR1L:NM_175710:exon3:c.G290A:p.R97H,T,.,N,T,N,T
chr1,227935629,227935629,C,T,R006_S,SNAP47,Silent,NM_001323930,exon2,c.C192T,p.I64I,SNP,SNVindel,exonic,SNAP47,NA,synonymous SNV,"SNAP47:NM_001323930:exon2:c.C192T:p.I64I,SNAP47:NM_001323934:exon2:c.C192T:p.I64I,SNAP47:NM_001323935:exon2:c.C327T:p.I109I,SNAP47:NM_053052:exon2:c.C327T:p.I109I,SNAP47:NM_001323931:exon3:c.C192T:p.I64I,SNAP47:NM_001323932:exon3:c.C192T:p.I64I,SNAP47:NM_001323933:exon4:c.C192T:p.I64I",NA,NA,NA,NA,NA,NA
chr1,228509754,228509754,C,T,R006_S,OBSCN,Missense_Mutation,NM_001098623,exon55,c.C15212T,p.A5071V,SNP,SNVindel,exonic,OBSCN,NA,nonsynonymous SNV,"OBSCN:NM_001098623:exon55:c.C15212T:p.A5071V,OBSCN:NM_052843:exon55:c.C15212T:p.A5071V,OBSCN:NM_001271223:exon66:c.C18083T:p.A6028V",D,D,D,T,D,T
chr1,237604681,237604681,C,T,R006_S,RYR2,Silent,NM_001035,exon13,c.C1068T,p.Y356Y,SNP,SNVindel,exonic,RYR2,NA,synonymous SNV,RYR2:NM_001035:exon13:c.C1068T:p.Y356Y,NA,NA,NA,NA,NA,NA
chr2,21233487,21233487,G,A,R006_S,APOB,Nonsense_Mutation,NM_000384,exon26,c.C6253T,p.R2085X,SNP,SNVindel,exonic,APOB,NA,stopgain,APOB:NM_000384:exon26:c.C6253T:p.R2085X,.,N,A,.,.,.
chr2,60687695,60687695,C,G,R006_S,BCL11A,Missense_Mutation,NM_001363864,exon3,c.G2250C,p.K750N,SNP,SNVindel,exonic,BCL11A,NA,nonsynonymous SNV,"BCL11A:NM_001363864:exon3:c.G2250C:p.K750N,BCL11A:NM_001365609:exon3:c.G2250C:p.K750N,BCL11A:NM_022893:exon4:c.G2352C:p.K784N",T,D,D,T,D,T
chr2,71909702,71909702,G,C,R006_S,DYSF,Missense_Mutation,NM_001130976,exon53,c.G6057C,p.K2019N,SNP,SNVindel,exonic,DYSF,NA,nonsynonymous SNV,"DYSF:NM_001130976:exon53:c.G6057C:p.K2019N,DYSF:NM_001130986:exon53:c.G6060C:p.K2020N,DYSF:NM_001130455:exon54:c.G6102C:p.K2034N,DYSF:NM_001130977:exon54:c.G6120C:p.K2040N,DYSF:NM_001130980:exon54:c.G6150C:p.K2050N,DYSF:NM_001130984:exon54:c.G6123C:p.K2041N,DYSF:NM_001130985:exon54:c.G6153C:p.K2051N,DYSF:NM_003494:exon54:c.G6099C:p.K2033N,DYSF:NM_001130978:exon55:c.G6162C:p.K2054N,DYSF:NM_001130979:exon55:c.G6192C:p.K2064N,DYSF:NM_001130981:exon55:c.G6213C:p.K2071N,DYSF:NM_001130982:exon55:c.G6195C:p.K2065N,DYSF:NM_001130983:exon55:c.G6165C:p.K2055N,DYSF:NM_001130987:exon55:c.G6216C:p.K2072N",D,D,D,D,D,D
chr2,74654561,74654561,G,C,R006_S,RTKN,Missense_Mutation,NM_001015055,exon10,c.C1245G,p.F415L,SNP,SNVindel,exonic,RTKN,NA,nonsynonymous SNV,"RTKN:NM_001015055:exon10:c.C1245G:p.F415L,RTKN:NM_001015056:exon10:c.C1095G:p.F365L,RTKN:NM_033046:exon11:c.C1206G:p.F402L",T,D,D,T,D,T
chr2,95537733,95537733,T,C,R006_S,TEKT4,Missense_Mutation,NM_144705,exon1,c.T409C,p.F137L,SNP,SNVindel,exonic,TEKT4,NA,nonsynonymous SNV,TEKT4:NM_144705:exon1:c.T409C:p.F137L,T,N,N,T,N,T
chr2,105472219,105472219,C,G,R006_S,POU3F3,Missense_Mutation,NM_006236,exon1,c.C251G,p.A84G,SNP,SNVindel,exonic,POU3F3,NA,nonsynonymous SNV,POU3F3:NM_006236:exon1:c.C251G:p.A84G,D,U,D,D,N,T
chr2,127834202,127834202,C,A,R006_S,BIN1,Silent,NM_001320632,exon2,c.G165T,p.L55L,SNP,SNVindel,exonic,BIN1,NA,synonymous SNV,"BIN1:NM_001320632:exon2:c.G165T:p.L55L,BIN1:NM_001320633:exon2:c.G165T:p.L55L,BIN1:NM_001320634:exon2:c.G93T:p.L31L,BIN1:NM_001320640:exon2:c.G165T:p.L55L,BIN1:NM_001320641:exon2:c.G165T:p.L55L,BIN1:NM_001320642:exon2:c.G84T:p.L28L,BIN1:NM_004305:exon2:c.G165T:p.L55L,BIN1:NM_139343:exon2:c.G165T:p.L55L,BIN1:NM_139344:exon2:c.G165T:p.L55L,BIN1:NM_139345:exon2:c.G165T:p.L55L,BIN1:NM_139346:exon2:c.G165T:p.L55L,BIN1:NM_139347:exon2:c.G165T:p.L55L,BIN1:NM_139348:exon2:c.G165T:p.L55L,BIN1:NM_139349:exon2:c.G165T:p.L55L,BIN1:NM_139350:exon2:c.G165T:p.L55L,BIN1:NM_139351:exon2:c.G165T:p.L55L",NA,NA,NA,NA,NA,NA
chr2,153575502,153575502,G,C,R006_S,ARL6IP6,Missense_Mutation,NM_152522,exon1,c.G364C,p.A122P,SNP,SNVindel,exonic,ARL6IP6,NA,nonsynonymous SNV,ARL6IP6:NM_152522:exon1:c.G364C:p.A122P,D,D,D,.,N,T
chr2,160205750,160205750,T,C,R006_S,BAZ2B,Silent,NM_001289975,exon28,c.A4797G,p.G1599G,SNP,SNVindel,exonic,BAZ2B,NA,synonymous SNV,"BAZ2B:NM_001289975:exon28:c.A4797G:p.G1599G,BAZ2B:NM_001329857:exon29:c.A4743G:p.G1581G,BAZ2B:NM_001329858:exon29:c.A4830G:p.G1610G,BAZ2B:NM_013450:exon29:c.A4905G:p.G1635G",NA,NA,NA,NA,NA,NA
chr2,169788951,169788951,C,T,R006_S,ABCB11,Missense_Mutation,NM_003742,exon24,c.G3149A,p.R1050H,SNP,SNVindel,exonic,ABCB11,NA,nonsynonymous SNV,ABCB11:NM_003742:exon24:c.G3149A:p.R1050H,T,N,D,D,N,D
chr2,179437868,179437868,G,A,R006_S,TTN,Missense_Mutation,NM_003319,exon154,c.C45796T,p.R15266C,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon154:c.C45796T:p.R15266C,TTN:NM_133432:exon155:c.C46171T:p.R15391C,TTN:NM_133437:exon155:c.C46372T:p.R15458C,TTN:NM_133378:exon275:c.C65287T:p.R21763C,TTN:NM_001256850:exon276:c.C68068T:p.R22690C,TTN:NM_001267550:exon326:c.C72991T:p.R24331C",D,.,D,T,D,T
chr2,186654479,186654479,A,G,R006_S,FSIP2,Silent,NM_173651,exon16,c.A2616G,p.K872K,SNP,SNVindel,exonic,FSIP2,NA,synonymous SNV,FSIP2:NM_173651:exon16:c.A2616G:p.K872K,NA,NA,NA,NA,NA,NA
chr2,220405007,220405007,C,T,R006_S,CHPF,Missense_Mutation,NM_001195731,exon4,c.G940A,p.G314R,SNP,SNVindel,exonic,CHPF,NA,nonsynonymous SNV,"CHPF:NM_001195731:exon4:c.G940A:p.G314R,CHPF:NM_024536:exon4:c.G1426A:p.G476R",D,D,D,T,D,T
chr2,228477657,228477657,T,G,R006_S,C2orf83,Missense_Mutation,NM_001162483,exon3,c.A284C,p.K95T,SNP,SNVindel,exonic,C2orf83,NA,nonsynonymous SNV,C2orf83:NM_001162483:exon3:c.A284C:p.K95T,D,.,N,T,N,T
chr2,232602793,232602793,A,C,R006_S,PDE6D,Missense_Mutation,NM_001291018,exon3,c.T195G,p.F65L,SNP,SNVindel,exonic,PDE6D,NA,nonsynonymous SNV,"PDE6D:NM_001291018:exon3:c.T195G:p.F65L,PDE6D:NM_002601:exon3:c.T195G:p.F65L",D,D,D,.,D,T
chr2,239079630,239079630,A,G,R006_S,ILKAP,Missense_Mutation,NM_030768,exon11,c.T992C,p.V331A,SNP,SNVindel,exonic,ILKAP,NA,nonsynonymous SNV,ILKAP:NM_030768:exon11:c.T992C:p.V331A,T,D,D,T,N,T
chr2,242681860,242681860,G,A,R006_S,D2HGDH,Missense_Mutation,NM_152783,exon4,c.G361A,p.E121K,SNP,SNVindel,exonic,D2HGDH,NA,nonsynonymous SNV,D2HGDH:NM_152783:exon4:c.G361A:p.E121K,T,N,D,D,N,T
chr3,32280525,32280525,G,C,R006_S,CMTM8,Missense_Mutation,NM_001320308,exon1,c.G61C,p.E21Q,SNP,SNVindel,exonic,CMTM8,NA,nonsynonymous SNV,"CMTM8:NM_001320308:exon1:c.G61C:p.E21Q,CMTM8:NM_178868:exon1:c.G61C:p.E21Q",D,N,D,T,N,T
chr3,38048045,38048045,G,C,R006_S,VILL,Missense_Mutation,NM_001370265,exon15,c.G1702C,p.V568L,SNP,SNVindel,exonic,VILL,NA,nonsynonymous SNV,"VILL:NM_001370265:exon15:c.G1702C:p.V568L,VILL:NM_001370264:exon16:c.G1801C:p.V601L,VILL:NM_015873:exon18:c.G2311C:p.V771L",T,N,N,T,N,T
chr3,38518950,38518950,G,T,R006_S,ACVR2B,Missense_Mutation,NM_001106,exon2,c.G225T,p.K75N,SNP,SNVindel,exonic,ACVR2B,NA,nonsynonymous SNV,ACVR2B:NM_001106:exon2:c.G225T:p.K75N,D,D,D,D,D,D
chr3,46307543,46307543,G,A,R006_S,CCR3,Silent,NM_178329,exon2,c.G894A,p.P298P,SNP,SNVindel,exonic,CCR3,NA,synonymous SNV,"CCR3:NM_178329:exon2:c.G894A:p.P298P,CCR3:NM_001164680:exon3:c.G948A:p.P316P,CCR3:NM_001837:exon3:c.G894A:p.P298P,CCR3:NM_178328:exon3:c.G957A:p.P319P",NA,NA,NA,NA,NA,NA
chr3,49785408,49785408,C,T,R006_S,IP6K1,Silent,NM_001242829,exon2,c.G66A,p.R22R,SNP,SNVindel,exonic,IP6K1,NA,synonymous SNV,"IP6K1:NM_001242829:exon2:c.G66A:p.R22R,IP6K1:NM_153273:exon2:c.G66A:p.R22R",NA,NA,NA,NA,NA,NA
chr3,49785409,49785409,C,A,R006_S,IP6K1,Missense_Mutation,NM_001242829,exon2,c.G65T,p.R22L,SNP,SNVindel,exonic,IP6K1,NA,nonsynonymous SNV,"IP6K1:NM_001242829:exon2:c.G65T:p.R22L,IP6K1:NM_153273:exon2:c.G65T:p.R22L",T,D,D,T,N,T
chr3,53346310,53346310,G,T,R006_S,DCP1A,Silent,NM_001290206,exon4,c.C108A,p.I36I,SNP,SNVindel,exonic,DCP1A,NA,synonymous SNV,"DCP1A:NM_001290206:exon4:c.C108A:p.I36I,DCP1A:NM_001290207:exon4:c.C108A:p.I36I,DCP1A:NM_001290204:exon5:c.C471A:p.I157I,DCP1A:NM_018403:exon5:c.C471A:p.I157I,DCP1A:NM_001290205:exon6:c.C255A:p.I85I",NA,NA,NA,NA,NA,NA
chr3,57994296,57994296,C,A,R006_S,FLNB,Missense_Mutation,NM_001164317,exon1,c.C5A,p.P2Q,SNP,SNVindel,exonic,FLNB,NA,nonsynonymous SNV,"FLNB:NM_001164317:exon1:c.C5A:p.P2Q,FLNB:NM_001164318:exon1:c.C5A:p.P2Q,FLNB:NM_001164319:exon1:c.C5A:p.P2Q,FLNB:NM_001457:exon1:c.C5A:p.P2Q",D,D,D,D,D,D
chr3,113187075,113187075,C,T,R006_S,SPICE1,Missense_Mutation,NM_001331078,exon10,c.G1066A,p.V356I,SNP,SNVindel,exonic,SPICE1,NA,nonsynonymous SNV,"SPICE1:NM_001331078:exon10:c.G1066A:p.V356I,SPICE1:NM_001331079:exon10:c.G1108A:p.V370I,SPICE1:NM_144718:exon10:c.G1066A:p.V356I",D,D,D,T,N,T
chr3,136062777,136062777,G,A,R006_S,STAG1,Missense_Mutation,NM_005862,exon30,c.C3343T,p.P1115S,SNP,SNVindel,exonic,STAG1,NA,nonsynonymous SNV,STAG1:NM_005862:exon30:c.C3343T:p.P1115S,D,D,D,T,D,T
chr3,169381134,169381134,T,C,R006_S,MECOM,Silent,NM_001366466,exon1,c.A27G,p.K9K,SNP,SNVindel,exonic,MECOM,NA,synonymous SNV,"MECOM:NM_001366466:exon1:c.A27G:p.K9K,MECOM:NM_001366473:exon1:c.A27G:p.K9K,MECOM:NM_004991:exon1:c.A27G:p.K9K",NA,NA,NA,NA,NA,NA
chr3,178916725,178916725,C,T,R006_S,PIK3CA,Missense_Mutation,NM_006218,exon2,c.C112T,p.R38C,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon2:c.C112T:p.R38C,T,D,D,T,D,T
chr4,870895,870895,C,T,R006_S,GAK,Missense_Mutation,NM_001318134,exon14,c.G1720A,p.G574S,SNP,SNVindel,exonic,GAK,NA,nonsynonymous SNV,"GAK:NM_001318134:exon14:c.G1720A:p.G574S,GAK:NM_005255:exon17:c.G1957A:p.G653S",T,D,D,T,D,D
chr4,2233804,2233804,C,G,R006_S,HAUS3,Missense_Mutation,NM_024511,exon5,c.G1662C,p.K554N,SNP,SNVindel,exonic,HAUS3,NA,nonsynonymous SNV,"HAUS3:NM_024511:exon5:c.G1662C:p.K554N,HAUS3:NM_001303143:exon6:c.G1662C:p.K554N",D,U,D,T,N,T
chr4,3117817,3117817,C,T,R006_S,HTT,Missense_Mutation,NM_002111,exon8,c.C895T,p.L299F,SNP,SNVindel,exonic,HTT,NA,nonsynonymous SNV,HTT:NM_002111:exon8:c.C895T:p.L299F,D,D,D,T,N,T
chr4,13545735,13545735,C,G,R006_S,NKX3-2,Missense_Mutation,NM_001189,exon1,c.G304C,p.E102Q,SNP,SNVindel,exonic,NKX3-2,NA,nonsynonymous SNV,NKX3-2:NM_001189:exon1:c.G304C:p.E102Q,D,D,D,D,N,D
chr4,70505311,70505311,C,T,R006_S,UGT2A2,Missense_Mutation,NM_001105677,exon1,c.G48A,p.M16I,SNP,SNVindel,exonic,UGT2A2,NA,nonsynonymous SNV,"UGT2A2:NM_001105677:exon1:c.G48A:p.M16I,UGT2A2:NM_001301233:exon1:c.G48A:p.M16I",.,.,.,.,.,T
chr4,72897738,72897738,C,T,R006_S,NPFFR2,Silent,NM_004885,exon1,c.C120T,p.G40G,SNP,SNVindel,exonic,NPFFR2,NA,synonymous SNV,NPFFR2:NM_004885:exon1:c.C120T:p.G40G,NA,NA,NA,NA,NA,NA
chr4,96090510,96090510,C,T,R006_S,UNC5C,Missense_Mutation,NM_003728,exon16,c.G2671A,p.V891I,SNP,SNVindel,exonic,UNC5C,NA,nonsynonymous SNV,UNC5C:NM_003728:exon16:c.G2671A:p.V891I,T,D,D,D,N,D
chr4,156634520,156634520,C,A,R006_S,GUCY1A1,Missense_Mutation,NM_001130684,exon6,c.C1357A,p.L453I,SNP,SNVindel,exonic,GUCY1A1,NA,nonsynonymous SNV,"GUCY1A1:NM_001130684:exon6:c.C1357A:p.L453I,GUCY1A1:NM_001130682:exon7:c.C1357A:p.L453I,GUCY1A1:NM_001130683:exon7:c.C1357A:p.L453I,GUCY1A1:NM_001130685:exon7:c.C652A:p.L218I,GUCY1A1:NM_001130687:exon7:c.C1357A:p.L453I,GUCY1A1:NM_001256449:exon7:c.C1357A:p.L453I,GUCY1A1:NM_000856:exon8:c.C1357A:p.L453I",D,D,D,D,N,D
chr4,169196590,169196590,C,T,R006_S,DDX60,Missense_Mutation,NM_017631,exon16,c.G2210A,p.R737Q,SNP,SNVindel,exonic,DDX60,NA,nonsynonymous SNV,DDX60:NM_017631:exon16:c.G2210A:p.R737Q,D,N,N,T,D,T
chr5,1213616,1213616,G,T,R006_S,SLC6A19,Silent,NM_001003841,exon5,c.G702T,p.L234L,SNP,SNVindel,exonic,SLC6A19,NA,synonymous SNV,SLC6A19:NM_001003841:exon5:c.G702T:p.L234L,NA,NA,NA,NA,NA,NA
chr5,10280593,10280593,A,T,R006_S,CMBL,Nonsense_Mutation,NM_138809,exon6,c.T710A,p.L237X,SNP,SNVindel,exonic,CMBL,NA,stopgain,CMBL:NM_138809:exon6:c.T710A:p.L237X,.,D,D,.,.,.
chr5,42719163,42719163,G,A,R006_S,GHR,Silent,NM_001242460,exon8,c.G1488A,p.P496P,SNP,SNVindel,exonic,GHR,NA,synonymous SNV,"GHR:NM_001242460:exon8:c.G1488A:p.P496P,GHR:NM_001242406:exon9:c.G1554A:p.P518P,GHR:NM_000163:exon10:c.G1554A:p.P518P,GHR:NM_001242399:exon10:c.G1575A:p.P525P,GHR:NM_001242402:exon10:c.G1554A:p.P518P,GHR:NM_001242403:exon10:c.G1554A:p.P518P,GHR:NM_001242404:exon10:c.G1554A:p.P518P,GHR:NM_001242405:exon10:c.G1554A:p.P518P,GHR:NM_001242400:exon11:c.G1554A:p.P518P,GHR:NM_001242401:exon11:c.G1554A:p.P518P",NA,NA,NA,NA,NA,NA
chr5,89981639,89981639,C,T,R006_S,ADGRV1,Missense_Mutation,NM_032119,exon29,c.C6317T,p.A2106V,SNP,SNVindel,exonic,ADGRV1,NA,nonsynonymous SNV,ADGRV1:NM_032119:exon29:c.C6317T:p.A2106V,D,D,D,T,N,T
chr5,90040889,90040889,A,G,R006_S,ADGRV1,Missense_Mutation,NM_032119,exon51,c.A10576G,p.M3526V,SNP,SNVindel,exonic,ADGRV1,NA,nonsynonymous SNV,ADGRV1:NM_032119:exon51:c.A10576G:p.M3526V,T,N,N,T,N,T
chr5,140011816,140011816,G,T,R006_S,CD14,Silent,NM_000591,exon2,c.C753A,p.P251P,SNP,SNVindel,exonic,CD14,NA,synonymous SNV,"CD14:NM_000591:exon2:c.C753A:p.P251P,CD14:NM_001040021:exon3:c.C753A:p.P251P,CD14:NM_001174104:exon3:c.C753A:p.P251P,CD14:NM_001174105:exon3:c.C753A:p.P251P",NA,NA,NA,NA,NA,NA
chr5,140603112,140603112,G,C,R006_S,PCDHB14,Missense_Mutation,NM_018934,exon1,c.G35C,p.R12T,SNP,SNVindel,exonic,PCDHB14,NA,nonsynonymous SNV,PCDHB14:NM_018934:exon1:c.G35C:p.R12T,D,.,D,T,D,T
chr5,140779400,140779400,C,T,R006_S,PCDHGB5,Missense_Mutation,NM_018925,exon1,c.C1706T,p.A569V,SNP,SNVindel,exonic,PCDHGB5,NA,nonsynonymous SNV,"PCDHGB5:NM_018925:exon1:c.C1706T:p.A569V,PCDHGB5:NM_032099:exon1:c.C1706T:p.A569V",.,.,D,.,.,.
chr6,42613250,42613250,A,G,R006_S,UBR2,Silent,NM_001363705,exon21,c.A2331G,p.E777E,SNP,SNVindel,exonic,UBR2,NA,synonymous SNV,"UBR2:NM_001363705:exon21:c.A2331G:p.E777E,UBR2:NM_015255:exon21:c.A2331G:p.E777E",NA,NA,NA,NA,NA,NA
chr6,51720789,51720789,C,A,R006_S,PKHD1,Missense_Mutation,NM_138694,exon49,c.G7813T,p.D2605Y,SNP,SNVindel,exonic,PKHD1,NA,nonsynonymous SNV,"PKHD1:NM_138694:exon49:c.G7813T:p.D2605Y,PKHD1:NM_170724:exon49:c.G7813T:p.D2605Y",D,D,D,D,D,D
chr6,82891596,82891596,C,T,R006_S,IBTK,Missense_Mutation,NM_001300906,exon26,c.G3680A,p.R1227K,SNP,SNVindel,exonic,IBTK,NA,nonsynonymous SNV,"IBTK:NM_001300906:exon26:c.G3680A:p.R1227K,IBTK:NM_015525:exon26:c.G3725A:p.R1242K",D,D,D,T,N,T
chr6,97246549,97246549,G,T,R006_S,GPR63,Missense_Mutation,NM_030784,exon2,c.C1059A,p.S353R,SNP,SNVindel,exonic,GPR63,NA,nonsynonymous SNV,"GPR63:NM_030784:exon2:c.C1059A:p.S353R,GPR63:NM_001143957:exon3:c.C1059A:p.S353R",D,D,D,T,N,T
chr7,6692406,6692406,C,G,R006_S,ZNF316,Silent,NM_001278559,exon9,c.C1179G,p.R393R,SNP,SNVindel,exonic,ZNF316,NA,synonymous SNV,ZNF316:NM_001278559:exon9:c.C1179G:p.R393R,NA,NA,NA,NA,NA,NA
chr7,11452351,11452351,G,C,R006_S,THSD7A,Missense_Mutation,NM_015204,exon17,c.C3614G,p.P1205R,SNP,SNVindel,exonic,THSD7A,NA,nonsynonymous SNV,THSD7A:NM_015204:exon17:c.C3614G:p.P1205R,D,D,D,T,D,T
chr7,70255403,70255403,C,G,R006_S,AUTS2,Missense_Mutation,NM_001127231,exon18,c.C3129G,p.H1043Q,SNP,SNVindel,exonic,AUTS2,NA,nonsynonymous SNV,"AUTS2:NM_001127231:exon18:c.C3129G:p.H1043Q,AUTS2:NM_015570:exon19:c.C3201G:p.H1067Q",T,D,D,T,N,T
chr7,99270260,99270260,G,A,R006_S,CYP3A5,Silent,NM_000777,exon4,c.C261T,p.P87P,SNP,SNVindel,exonic,CYP3A5,NA,synonymous SNV,"CYP3A5:NM_000777:exon4:c.C261T:p.P87P,CYP3A5:NM_001190484:exon4:c.C261T:p.P87P,CYP3A5:NM_001291830:exon5:c.C231T:p.P77P",NA,NA,NA,NA,NA,NA
chr7,99564734,99564734,C,G,R006_S,AZGP1,Missense_Mutation,NM_001185,exon4,c.G789C,p.Q263H,SNP,SNVindel,exonic,AZGP1,NA,nonsynonymous SNV,AZGP1:NM_001185:exon4:c.G789C:p.Q263H,D,U,D,T,D,T
chr7,100365563,100365563,G,A,R006_S,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,.,D,N,T,D,T
chr7,100682815,100682815,T,C,R006_S,MUC17,Silent,NM_001040105,exon3,c.T8118C,p.N2706N,SNP,SNVindel,exonic,MUC17,NA,synonymous SNV,MUC17:NM_001040105:exon3:c.T8118C:p.N2706N,NA,NA,NA,NA,NA,NA
chr7,105672858,105672858,A,G,R006_S,CDHR3,Silent,NM_001301161,exon18,c.A2109G,p.E703E,SNP,SNVindel,exonic,CDHR3,NA,synonymous SNV,"CDHR3:NM_001301161:exon18:c.A2109G:p.E703E,CDHR3:NM_152750:exon19:c.A2373G:p.E791E",NA,NA,NA,NA,NA,NA
chr7,135289105,135289105,A,G,R006_S,NUP205,Missense_Mutation,NM_001329434,exon19,c.A1646G,p.N549S,SNP,SNVindel,exonic,NUP205,NA,nonsynonymous SNV,"NUP205:NM_001329434:exon19:c.A1646G:p.N549S,NUP205:NM_015135:exon19:c.A2720G:p.N907S",T,D,D,T,N,T
chr7,142612503,142612503,A,T,R006_S,TRPV5,Silent,NM_019841,exon10,c.T1260A,p.I420I,SNP,SNVindel,exonic,TRPV5,NA,synonymous SNV,TRPV5:NM_019841:exon10:c.T1260A:p.I420I,NA,NA,NA,NA,NA,NA
chr7,142627505,142627505,T,A,R006_S,TRPV5,Missense_Mutation,NM_019841,exon2,c.A165T,p.E55D,SNP,SNVindel,exonic,TRPV5,NA,nonsynonymous SNV,TRPV5:NM_019841:exon2:c.A165T:p.E55D,T,N,D,T,N,T
chr8,12956025,12956025,G,A,R006_S,DLC1,Missense_Mutation,NM_001348084,exon5,c.C1517T,p.S506L,SNP,SNVindel,exonic,DLC1,NA,nonsynonymous SNV,"DLC1:NM_001348084:exon5:c.C1517T:p.S506L,DLC1:NM_001164271:exon6:c.C1517T:p.S506L,DLC1:NM_001316668:exon6:c.C1841T:p.S614L,DLC1:NM_001348083:exon6:c.C1517T:p.S506L,DLC1:NM_006094:exon6:c.C1739T:p.S580L,DLC1:NM_001348082:exon9:c.C1517T:p.S506L,DLC1:NM_001348081:exon10:c.C3050T:p.S1017L,DLC1:NM_182643:exon10:c.C3050T:p.S1017L",D,N,N,T,D,T
chr8,18080037,18080037,C,G,R006_S,NAT1,Missense_Mutation,NM_001160174,exon1,c.C481G,p.L161V,SNP,SNVindel,exonic,NAT1,NA,nonsynonymous SNV,"NAT1:NM_001160174:exon1:c.C481G:p.L161V,NAT1:NM_000662:exon3:c.C481G:p.L161V,NAT1:NM_001160171:exon4:c.C481G:p.L161V,NAT1:NM_001160173:exon4:c.C481G:p.L161V,NAT1:NM_001160176:exon4:c.C667G:p.L223V,NAT1:NM_001160170:exon5:c.C481G:p.L161V,NAT1:NM_001160172:exon5:c.C481G:p.L161V,NAT1:NM_001160175:exon5:c.C667G:p.L223V,NAT1:NM_001160179:exon5:c.C481G:p.L161V,NAT1:NM_001291962:exon6:c.C667G:p.L223V",D,D,D,T,N,T
chr8,31012267,31012267,C,A,R006_S,WRN,Missense_Mutation,NM_000553,exon32,c.C3815A,p.P1272H,SNP,SNVindel,exonic,WRN,NA,nonsynonymous SNV,WRN:NM_000553:exon32:c.C3815A:p.P1272H,D,N,N,T,N,T
chr8,42586820,42586820,C,T,R006_S,CHRNB3,Missense_Mutation,NM_000749,exon5,c.C370T,p.R124C,SNP,SNVindel,exonic,CHRNB3,NA,nonsynonymous SNV,"CHRNB3:NM_000749:exon5:c.C370T:p.R124C,CHRNB3:NM_001347717:exon6:c.C148T:p.R50C",D,D,D,T,D,D
chr8,101271054,101271054,A,G,R006_S,RNF19A,Silent,NM_001353837,exon10,c.T2247C,p.D749D,SNP,SNVindel,exonic,RNF19A,NA,synonymous SNV,"RNF19A:NM_001353837:exon10:c.T2247C:p.D749D,RNF19A:NM_001353838:exon10:c.T2247C:p.D749D,RNF19A:NM_183419:exon10:c.T2247C:p.D749D,RNF19A:NM_001280539:exon11:c.T2247C:p.D749D,RNF19A:NM_015435:exon11:c.T2247C:p.D749D",NA,NA,NA,NA,NA,NA
chr8,124665034,124665034,T,C,R006_S,KLHL38,Missense_Mutation,NM_001081675,exon2,c.A133G,p.I45V,SNP,SNVindel,exonic,KLHL38,NA,nonsynonymous SNV,KLHL38:NM_001081675:exon2:c.A133G:p.I45V,T,N,N,T,N,T
chr9,94486265,94486265,G,A,R006_S,ROR2,Silent,NM_004560,exon9,c.C2511T,p.F837F,SNP,SNVindel,exonic,ROR2,NA,synonymous SNV,ROR2:NM_004560:exon9:c.C2511T:p.F837F,NA,NA,NA,NA,NA,NA
chr9,99580724,99580724,T,C,R006_S,ZNF782,Silent,NM_001346993,exon4,c.A1509G,p.T503T,SNP,SNVindel,exonic,ZNF782,NA,synonymous SNV,"ZNF782:NM_001346993:exon4:c.A1509G:p.T503T,ZNF782:NM_001346995:exon4:c.A1185G:p.T395T,ZNF782:NM_001346991:exon5:c.A1581G:p.T527T,ZNF782:NM_001001662:exon6:c.A1581G:p.T527T",NA,NA,NA,NA,NA,NA
chr9,100881386,100881386,C,A,R006_S,TRIM14,Missense_Mutation,NM_014788,exon1,c.G85T,p.D29Y,SNP,SNVindel,exonic,TRIM14,NA,nonsynonymous SNV,"TRIM14:NM_014788:exon1:c.G85T:p.D29Y,TRIM14:NM_033219:exon1:c.G85T:p.D29Y",D,N,N,T,D,T
chr9,129377750,129377750,G,C,R006_S,LMX1B,Missense_Mutation,NM_001174146,exon2,c.G228C,p.W76C,SNP,SNVindel,exonic,LMX1B,NA,nonsynonymous SNV,"LMX1B:NM_001174146:exon2:c.G228C:p.W76C,LMX1B:NM_001174147:exon2:c.G228C:p.W76C,LMX1B:NM_002316:exon2:c.G228C:p.W76C",D,D,D,D,D,D
chr10,27512361,27512361,C,G,R006_S,ACBD5,Missense_Mutation,NM_001301252,exon3,c.G69C,p.M23I,SNP,SNVindel,exonic,ACBD5,NA,nonsynonymous SNV,"ACBD5:NM_001301252:exon3:c.G69C:p.M23I,ACBD5:NM_001301254:exon3:c.G69C:p.M23I,ACBD5:NM_001271512:exon4:c.G390C:p.M130I,ACBD5:NM_001301251:exon4:c.G69C:p.M23I,ACBD5:NM_001301253:exon4:c.G69C:p.M23I,ACBD5:NM_001352571:exon4:c.G390C:p.M130I,ACBD5:NM_001352583:exon4:c.G69C:p.M23I,ACBD5:NM_001352584:exon4:c.G69C:p.M23I,ACBD5:NM_001352585:exon4:c.G69C:p.M23I,ACBD5:NM_001352586:exon4:c.G390C:p.M130I,ACBD5:NM_001352587:exon4:c.G390C:p.M130I,ACBD5:NM_001042473:exon5:c.G291C:p.M97I,ACBD5:NM_001352568:exon5:c.G417C:p.M139I,ACBD5:NM_001352569:exon5:c.G396C:p.M132I,ACBD5:NM_001352570:exon5:c.G396C:p.M132I,ACBD5:NM_001352572:exon5:c.G417C:p.M139I,ACBD5:NM_001352573:exon5:c.G396C:p.M132I,ACBD5:NM_001352574:exon5:c.G291C:p.M97I,ACBD5:NM_001352575:exon5:c.G291C:p.M97I,ACBD5:NM_001352576:exon5:c.G291C:p.M97I,ACBD5:NM_001352577:exon5:c.G291C:p.M97I,ACBD5:NM_001352578:exon5:c.G291C:p.M97I,ACBD5:NM_001352579:exon5:c.G291C:p.M97I,ACBD5:NM_001352580:exon5:c.G291C:p.M97I,ACBD5:NM_001352581:exon5:c.G396C:p.M132I,ACBD5:NM_001352582:exon5:c.G291C:p.M97I,ACBD5:NM_001352588:exon5:c.G396C:p.M132I,ACBD5:NM_145698:exon5:c.G396C:p.M132I",T,D,D,D,N,T
chr10,30602626,30602626,A,G,R006_S,MTPAP,Missense_Mutation,NM_018109,exon9,c.T1661C,p.V554A,SNP,SNVindel,exonic,MTPAP,NA,nonsynonymous SNV,MTPAP:NM_018109:exon9:c.T1661C:p.V554A,D,N,D,T,D,T
chr10,50534768,50534768,C,G,R006_S,C10orf71,Missense_Mutation,NM_001135196,exon3,c.C4178G,p.T1393S,SNP,SNVindel,exonic,C10orf71,NA,nonsynonymous SNV,C10orf71:NM_001135196:exon3:c.C4178G:p.T1393S,T,U,N,T,N,T
chr10,75886052,75886052,C,A,R006_S,AP3M1,Missense_Mutation,NM_001320264,exon7,c.G865T,p.G289C,SNP,SNVindel,exonic,AP3M1,NA,nonsynonymous SNV,"AP3M1:NM_001320264:exon7:c.G865T:p.G289C,AP3M1:NM_001320265:exon7:c.G703T:p.G235C,AP3M1:NM_012095:exon7:c.G865T:p.G289C,AP3M1:NM_207012:exon8:c.G865T:p.G289C,AP3M1:NM_001320263:exon9:c.G865T:p.G289C",T,D,D,T,D,T
chr11,18159433,18159433,T,C,R006_S,MRGPRX3,Silent,NM_001370464,exon2,c.T684C,p.C228C,SNP,SNVindel,exonic,MRGPRX3,NA,synonymous SNV,"MRGPRX3:NM_001370464:exon2:c.T684C:p.C228C,MRGPRX3:NM_054031:exon3:c.T684C:p.C228C",NA,NA,NA,NA,NA,NA
chr11,26681879,26681879,G,A,R006_S,ANO3,Missense_Mutation,NM_001313727,exon24,c.G2396A,p.R799Q,SNP,SNVindel,exonic,ANO3,NA,nonsynonymous SNV,"ANO3:NM_001313727:exon24:c.G2396A:p.R799Q,ANO3:NM_031418:exon27:c.G2834A:p.R945Q,ANO3:NM_001313726:exon28:c.G3017A:p.R1006Q",T,D,D,T,N,T
chr11,47192983,47192983,G,A,R006_S,ARFGAP2,Missense_Mutation,NM_001242832,exon9,c.C851T,p.S284F,SNP,SNVindel,exonic,ARFGAP2,NA,nonsynonymous SNV,"ARFGAP2:NM_001242832:exon9:c.C851T:p.S284F,ARFGAP2:NM_032389:exon10:c.C935T:p.S312F",D,N,D,T,D,T
chr11,60233405,60233405,A,C,R006_S,MS4A1,Missense_Mutation,NM_021950,exon5,c.A348C,p.K116N,SNP,SNVindel,exonic,MS4A1,NA,nonsynonymous SNV,"MS4A1:NM_021950:exon5:c.A348C:p.K116N,MS4A1:NM_152866:exon6:c.A348C:p.K116N",T,N,D,T,N,T
chr11,118211305,118211305,C,T,R006_S,CD3D,Missense_Mutation,NM_000732,exon2,c.G59A,p.S20N,SNP,SNVindel,exonic,CD3D,NA,nonsynonymous SNV,"CD3D:NM_000732:exon2:c.G59A:p.S20N,CD3D:NM_001040651:exon2:c.G59A:p.S20N",T,N,N,T,N,T
chr11,124749193,124749193,A,G,R006_S,ROBO3,Missense_Mutation,NM_001370361,exon6,c.A788G,p.H263R,SNP,SNVindel,exonic,ROBO3,NA,nonsynonymous SNV,"ROBO3:NM_001370361:exon6:c.A788G:p.H263R,ROBO3:NM_001370366:exon6:c.A593G:p.H198R,ROBO3:NM_001370358:exon7:c.A788G:p.H263R,ROBO3:NM_001370359:exon7:c.A788G:p.H263R,ROBO3:NM_001370364:exon7:c.A593G:p.H198R,ROBO3:NM_001370356:exon8:c.A788G:p.H263R,ROBO3:NM_001370357:exon8:c.A788G:p.H263R,ROBO3:NM_022370:exon24:c.A3641G:p.H1214R",D,N,D,T,N,T
chr11,134181044,134181044,G,A,R006_S,GLB1L3,Missense_Mutation,NM_001080407,exon13,c.G1267A,p.A423T,SNP,SNVindel,exonic,GLB1L3,NA,nonsynonymous SNV,GLB1L3:NM_001080407:exon13:c.G1267A:p.A423T,T,N,N,D,N,T
chr12,247534,247534,C,T,R006_S,IQSEC3,Silent,NM_015232,exon3,c.C96T,p.F32F,SNP,SNVindel,exonic,IQSEC3,NA,synonymous SNV,"IQSEC3:NM_015232:exon3:c.C96T:p.F32F,IQSEC3:NM_001170738:exon4:c.C1005T:p.F335F",NA,NA,NA,NA,NA,NA
chr12,5724446,5724446,G,C,R006_S,ANO2,Missense_Mutation,NM_001364791,exon17,c.C1834G,p.Q612E,SNP,SNVindel,exonic,ANO2,NA,nonsynonymous SNV,"ANO2:NM_001364791:exon17:c.C1834G:p.Q612E,ANO2:NM_001278596:exon18:c.C1849G:p.Q617E,ANO2:NM_001278597:exon18:c.C1837G:p.Q613E",T,D,N,T,N,T
chr12,6061574,6061574,T,G,R006_S,VWF,Missense_Mutation,NM_000552,exon49,c.A8098C,p.K2700Q,SNP,SNVindel,exonic,VWF,NA,nonsynonymous SNV,VWF:NM_000552:exon49:c.A8098C:p.K2700Q,T,N,N,T,N,T
chr12,7651657,7651657,G,C,R006_S,CD163,Silent,NM_001370145,exon4,c.C585G,p.V195V,SNP,SNVindel,exonic,CD163,NA,synonymous SNV,"CD163:NM_001370145:exon4:c.C585G:p.V195V,CD163:NM_001370146:exon4:c.C585G:p.V195V,CD163:NM_004244:exon4:c.C585G:p.V195V,CD163:NM_203416:exon4:c.C585G:p.V195V",NA,NA,NA,NA,NA,NA
chr12,53494882,53494882,C,A,R006_S,IGFBP6,Silent,NM_002178,exon3,c.C538A,p.R180R,SNP,SNVindel,exonic,IGFBP6,NA,synonymous SNV,IGFBP6:NM_002178:exon3:c.C538A:p.R180R,NA,NA,NA,NA,NA,NA
chr12,53646780,53646780,C,A,R006_S,MFSD5,Missense_Mutation,NM_001170790,exon2,c.C482A,p.A161E,SNP,SNVindel,exonic,MFSD5,NA,nonsynonymous SNV,"MFSD5:NM_001170790:exon2:c.C482A:p.A161E,MFSD5:NM_032889:exon2:c.C161A:p.A54E",D,D,D,D,D,D
chr12,57348805,57348805,T,A,R006_S,RDH16,Missense_Mutation,NM_003708,exon2,c.A457T,p.R153W,SNP,SNVindel,exonic,RDH16,NA,nonsynonymous SNV,RDH16:NM_003708:exon2:c.A457T:p.R153W,D,D,D,D,D,D
chr12,64199069,64199069,C,T,R006_S,RXYLT1,Missense_Mutation,NM_001278237,exon5,c.C19T,p.P7S,SNP,SNVindel,exonic,RXYLT1,NA,nonsynonymous SNV,"RXYLT1:NM_001278237:exon5:c.C19T:p.P7S,RXYLT1:NM_014254:exon5:c.C799T:p.P267S",T,D,D,.,D,T
chr12,100729451,100729451,T,C,R006_S,SCYL2,Silent,NM_001317784,exon15,c.T1911C,p.V637V,SNP,SNVindel,exonic,SCYL2,NA,synonymous SNV,"SCYL2:NM_001317784:exon15:c.T1911C:p.V637V,SCYL2:NM_017988:exon15:c.T1911C:p.V637V,SCYL2:NM_001330253:exon16:c.T1917C:p.V639V,SCYL2:NM_001330254:exon16:c.T1917C:p.V639V,SCYL2:NM_001330256:exon17:c.T1398C:p.V466V",NA,NA,NA,NA,NA,NA
chr12,112184077,112184077,T,C,R006_S,ACAD10,Missense_Mutation,NM_025247,exon14,c.T2245C,p.Y749H,SNP,SNVindel,exonic,ACAD10,NA,nonsynonymous SNV,"ACAD10:NM_025247:exon14:c.T2245C:p.Y749H,ACAD10:NM_001136538:exon15:c.T2338C:p.Y780H",T,N,D,D,D,D
chr12,112601459,112601459,C,T,R006_S,HECTD4,Missense_Mutation,NM_001109662,exon74,c.G12814A,p.V4272M,SNP,SNVindel,exonic,HECTD4,NA,nonsynonymous SNV,HECTD4:NM_001109662:exon74:c.G12814A:p.V4272M,.,.,D,.,.,T
chr12,124094645,124094645,G,T,R006_S,DDX55,Missense_Mutation,NM_020936,exon7,c.G711T,p.K237N,SNP,SNVindel,exonic,DDX55,NA,nonsynonymous SNV,DDX55:NM_020936:exon7:c.G711T:p.K237N,T,D,D,T,N,D
chr12,124821379,124821379,G,C,R006_S,NCOR2,Missense_Mutation,NM_001077261,exon39,c.C6005G,p.P2002R,SNP,SNVindel,exonic,NCOR2,NA,nonsynonymous SNV,"NCOR2:NM_001077261:exon39:c.C6005G:p.P2002R,NCOR2:NM_001206654:exon39:c.C6005G:p.P2002R,NCOR2:NM_006312:exon40:c.C6035G:p.P2012R",D,U,N,T,N,T
chr13,20346460,20346460,C,G,R006_S,PSPC1,Missense_Mutation,NM_001354908,exon2,c.G596C,p.G199A,SNP,SNVindel,exonic,PSPC1,NA,nonsynonymous SNV,"PSPC1:NM_001354908:exon2:c.G596C:p.G199A,PSPC1:NM_001354909:exon2:c.G596C:p.G199A,PSPC1:NM_001363660:exon2:c.G596C:p.G199A,PSPC1:NM_001042414:exon3:c.G596C:p.G199A",D,D,D,T,D,T
chr14,20665556,20665556,G,A,R006_S,OR11G2,Missense_Mutation,NM_001005503,exon1,c.G62A,p.R21H,SNP,SNVindel,exonic,OR11G2,NA,nonsynonymous SNV,OR11G2:NM_001005503:exon1:c.G62A:p.R21H,T,.,N,T,N,T
chr14,22038134,22038134,C,T,R006_S,OR10G3,Missense_Mutation,NM_001005465,exon1,c.G742A,p.V248M,SNP,SNVindel,exonic,OR10G3,NA,nonsynonymous SNV,OR10G3:NM_001005465:exon1:c.G742A:p.V248M,D,N,N,T,N,T
chr14,24589071,24589071,G,C,R006_S,DCAF11,Missense_Mutation,NM_001163484,exon11,c.G1058C,p.G353A,SNP,SNVindel,exonic,DCAF11,NA,nonsynonymous SNV,"DCAF11:NM_001163484:exon11:c.G1058C:p.G353A,DCAF11:NM_025230:exon11:c.G1058C:p.G353A,DCAF11:NM_181357:exon11:c.G980C:p.G327A",D,D,D,T,D,T
chr14,25044592,25044592,T,A,R006_S,CTSG,Missense_Mutation,NM_001911,exon2,c.A82T,p.R28W,SNP,SNVindel,exonic,CTSG,NA,nonsynonymous SNV,CTSG:NM_001911:exon2:c.A82T:p.R28W,D,N,D,D,D,D
chr14,33016104,33016104,A,G,R006_S,AKAP6,Missense_Mutation,NM_004274,exon4,c.A2245G,p.K749E,SNP,SNVindel,exonic,AKAP6,NA,nonsynonymous SNV,AKAP6:NM_004274:exon4:c.A2245G:p.K749E,T,D,N,T,N,T
chr15,45412434,45412434,C,A,R006_S,DUOXA1,Silent,NM_001276265,exon4,c.G504T,p.T168T,SNP,SNVindel,exonic,DUOXA1,NA,synonymous SNV,"DUOXA1:NM_001276265:exon4:c.G504T:p.T168T,DUOXA1:NM_001276266:exon5:c.G639T:p.T213T,DUOXA1:NM_001276268:exon5:c.G504T:p.T168T,DUOXA1:NM_001276264:exon8:c.G639T:p.T213T,DUOXA1:NM_001276267:exon8:c.G504T:p.T168T,DUOXA1:NM_144565:exon8:c.G639T:p.T213T",NA,NA,NA,NA,NA,NA
chr15,45695539,45695539,G,C,R006_S,SPATA5L1,Missense_Mutation,NM_001323640,exon1,c.G912C,p.E304D,SNP,SNVindel,exonic,SPATA5L1,NA,nonsynonymous SNV,"SPATA5L1:NM_001323640:exon1:c.G912C:p.E304D,SPATA5L1:NM_024063:exon1:c.G912C:p.E304D",D,D,D,D,D,D
chr16,731243,731243,G,A,R006_S,STUB1,Missense_Mutation,NM_001293197,exon2,c.G35A,p.R12Q,SNP,SNVindel,exonic,STUB1,NA,nonsynonymous SNV,"STUB1:NM_001293197:exon2:c.G35A:p.R12Q,STUB1:NM_005861:exon2:c.G251A:p.R84Q",T,D,D,T,D,T
chr16,3191183,3191183,C,T,R006_S,ZNF213,Silent,NM_001134655,exon6,c.C1215T,p.D405D,SNP,SNVindel,exonic,ZNF213,NA,synonymous SNV,"ZNF213:NM_001134655:exon6:c.C1215T:p.D405D,ZNF213:NM_004220:exon6:c.C1215T:p.D405D",NA,NA,NA,NA,NA,NA
chr16,3842041,3842041,C,T,R006_S,CREBBP,Missense_Mutation,NM_004380,exon5,c.G1271A,p.R424Q,SNP,SNVindel,exonic,CREBBP,NA,nonsynonymous SNV,CREBBP:NM_004380:exon5:c.G1271A:p.R424Q,D,.,D,D,D,D
chr16,28331576,28331576,C,G,R006_S,SBK1,Missense_Mutation,NM_001024401,exon4,c.C609G,p.C203W,SNP,SNVindel,exonic,SBK1,NA,nonsynonymous SNV,SBK1:NM_001024401:exon4:c.C609G:p.C203W,D,D,D,T,N,T
chr16,70841707,70841707,G,A,R006_S,HYDIN,Missense_Mutation,NM_001270974,exon86,c.C15142T,p.H5048Y,SNP,SNVindel,exonic,HYDIN,NA,nonsynonymous SNV,HYDIN:NM_001270974:exon86:c.C15142T:p.H5048Y,D,U,D,T,D,T
chr17,3119024,3119024,T,C,R006_S,OR1A1,Missense_Mutation,NM_014565,exon1,c.T110C,p.I37T,SNP,SNVindel,exonic,OR1A1,NA,nonsynonymous SNV,OR1A1:NM_014565:exon1:c.T110C:p.I37T,T,N,N,T,N,T
chr17,3181513,3181513,T,A,R006_S,OR3A2,Silent,NM_002551,exon1,c.A717T,p.S239S,SNP,SNVindel,exonic,OR3A2,NA,synonymous SNV,OR3A2:NM_002551:exon1:c.A717T:p.S239S,NA,NA,NA,NA,NA,NA
chr17,4804914,4804914,C,G,R006_S,CHRNE,Missense_Mutation,NM_000080,exon6,c.G507C,p.Q169H,SNP,SNVindel,exonic,CHRNE,NA,nonsynonymous SNV,CHRNE:NM_000080:exon6:c.G507C:p.Q169H,T,D,D,T,N,T
chr17,7340339,7340339,C,G,R006_S,TMEM102,Missense_Mutation,NM_001320444,exon2,c.C1041G,p.F347L,SNP,SNVindel,exonic,TMEM102,NA,nonsynonymous SNV,"TMEM102:NM_001320444:exon2:c.C1041G:p.F347L,TMEM102:NM_178518:exon3:c.C1041G:p.F347L",D,N,D,T,D,T
chr17,7577094,7577094,G,A,R006_S,TP53,Missense_Mutation,NM_001126115,exon4,c.C448T,p.R150W,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon4:c.C448T:p.R150W,TP53:NM_001126116:exon4:c.C448T:p.R150W,TP53:NM_001126117:exon4:c.C448T:p.R150W,TP53:NM_001276697:exon4:c.C367T:p.R123W,TP53:NM_001276698:exon4:c.C367T:p.R123W,TP53:NM_001276699:exon4:c.C367T:p.R123W,TP53:NM_001126118:exon7:c.C727T:p.R243W,TP53:NM_000546:exon8:c.C844T:p.R282W,TP53:NM_001126112:exon8:c.C844T:p.R282W,TP53:NM_001126113:exon8:c.C844T:p.R282W,TP53:NM_001126114:exon8:c.C844T:p.R282W,TP53:NM_001276695:exon8:c.C727T:p.R243W,TP53:NM_001276696:exon8:c.C727T:p.R243W,TP53:NM_001276760:exon8:c.C727T:p.R243W,TP53:NM_001276761:exon8:c.C727T:p.R243W",D,D,A,D,D,D
chr17,7578534,7578534,C,G,R006_S,TP53,Missense_Mutation,NM_001126118,exon4,c.G279C,p.K93N,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126118:exon4:c.G279C:p.K93N,TP53:NM_000546:exon5:c.G396C:p.K132N,TP53:NM_001126112:exon5:c.G396C:p.K132N,TP53:NM_001126113:exon5:c.G396C:p.K132N,TP53:NM_001126114:exon5:c.G396C:p.K132N,TP53:NM_001276695:exon5:c.G279C:p.K93N,TP53:NM_001276696:exon5:c.G279C:p.K93N,TP53:NM_001276760:exon5:c.G279C:p.K93N,TP53:NM_001276761:exon5:c.G279C:p.K93N",D,D,D,D,D,D
chr17,12655986,12655986,G,A,R006_S,MYOCD,Missense_Mutation,NM_001146312,exon10,c.G1381A,p.A461T,SNP,SNVindel,exonic,MYOCD,NA,nonsynonymous SNV,"MYOCD:NM_001146312:exon10:c.G1381A:p.A461T,MYOCD:NM_153604:exon10:c.G1381A:p.A461T",T,D,D,T,N,T
chr17,16456385,16456385,T,C,R006_S,ZNF287,Silent,NM_001346170,exon5,c.A927G,p.V309V,SNP,SNVindel,exonic,ZNF287,NA,synonymous SNV,"ZNF287:NM_001346170:exon5:c.A927G:p.V309V,ZNF287:NM_001346167:exon6:c.A1071G:p.V357V,ZNF287:NM_001346169:exon6:c.A1071G:p.V357V,ZNF287:NM_001346171:exon6:c.A564G:p.V188V,ZNF287:NM_020653:exon6:c.A1071G:p.V357V,ZNF287:NM_001346168:exon7:c.A1071G:p.V357V",NA,NA,NA,NA,NA,NA
chr17,47246094,47246094,C,A,R006_S,B4GALNT2,Missense_Mutation,NM_001159387,exon10,c.C1147A,p.Q383K,SNP,SNVindel,exonic,B4GALNT2,NA,nonsynonymous SNV,"B4GALNT2:NM_001159387:exon10:c.C1147A:p.Q383K,B4GALNT2:NM_001159388:exon10:c.C1069A:p.Q357K,B4GALNT2:NM_153446:exon10:c.C1327A:p.Q443K",T,N,N,T,N,T
chr17,72844067,72844067,A,T,R006_S,GRIN2C,Silent,NM_000835,exon8,c.T1695A,p.T565T,SNP,SNVindel,exonic,GRIN2C,NA,synonymous SNV,"GRIN2C:NM_000835:exon8:c.T1695A:p.T565T,GRIN2C:NM_001278553:exon8:c.T1695A:p.T565T",NA,NA,NA,NA,NA,NA
chr17,74162550,74162550,T,A,R006_S,RNF157,Missense_Mutation,NM_001330501,exon6,c.A620T,p.E207V,SNP,SNVindel,exonic,RNF157,NA,nonsynonymous SNV,"RNF157:NM_001330501:exon6:c.A620T:p.E207V,RNF157:NM_052916:exon6:c.A620T:p.E207V",D,D,D,T,D,T
chr18,10699138,10699138,C,T,R006_S,PIEZO2,Missense_Mutation,NM_022068,exon40,c.G6140A,p.S2047N,SNP,SNVindel,exonic,PIEZO2,NA,nonsynonymous SNV,PIEZO2:NM_022068:exon40:c.G6140A:p.S2047N,T,.,N,T,N,T
chr18,44030275,44030275,G,A,R006_S,RNF165,Missense_Mutation,NM_001256758,exon3,c.G56A,p.R19Q,SNP,SNVindel,exonic,RNF165,NA,nonsynonymous SNV,"RNF165:NM_001256758:exon3:c.G56A:p.R19Q,RNF165:NM_152470:exon5:c.G632A:p.R211Q",D,D,D,T,N,T
chr19,613434,613434,G,A,R006_S,HCN2,Missense_Mutation,NM_001194,exon6,c.G1771A,p.V591M,SNP,SNVindel,exonic,HCN2,NA,nonsynonymous SNV,HCN2:NM_001194:exon6:c.G1771A:p.V591M,D,.,D,D,D,D
chr19,872115,872115,A,G,R006_S,MED16,Missense_Mutation,NM_005481,exon12,c.T1909C,p.S637P,SNP,SNVindel,exonic,MED16,NA,nonsynonymous SNV,MED16:NM_005481:exon12:c.T1909C:p.S637P,T,U,D,T,N,T
chr19,1073170,1073170,G,A,R006_S,ARHGAP45,Silent,NM_001282335,exon2,c.G93A,p.P31P,SNP,SNVindel,exonic,ARHGAP45,NA,synonymous SNV,"ARHGAP45:NM_001282335:exon2:c.G93A:p.P31P,ARHGAP45:NM_001258328:exon3:c.G492A:p.P164P,ARHGAP45:NM_001321232:exon3:c.G456A:p.P152P,ARHGAP45:NM_012292:exon3:c.G444A:p.P148P",NA,NA,NA,NA,NA,NA
chr19,1528316,1528316,C,T,R006_S,PLK5,Missense_Mutation,NM_001243079,exon8,c.C217T,p.R73W,SNP,SNVindel,exonic,PLK5,NA,nonsynonymous SNV,PLK5:NM_001243079:exon8:c.C217T:p.R73W,.,.,N,T,.,.
chr19,3557200,3557200,C,T,R006_S,MFSD12,Missense_Mutation,NM_001287529,exon1,c.G202A,p.A68T,SNP,SNVindel,exonic,MFSD12,NA,nonsynonymous SNV,"MFSD12:NM_001287529:exon1:c.G202A:p.A68T,MFSD12:NM_174983:exon1:c.G202A:p.A68T",T,D,D,D,D,D
chr19,18311201,18311201,C,T,R006_S,RAB3A,Missense_Mutation,NM_002866,exon3,c.G283A,p.A95T,SNP,SNVindel,exonic,RAB3A,NA,nonsynonymous SNV,RAB3A:NM_002866:exon3:c.G283A:p.A95T,D,D,D,D,D,D
chr19,19823883,19823883,C,T,R006_S,ZNF14,Silent,NM_021030,exon4,c.G207A,p.E69E,SNP,SNVindel,exonic,ZNF14,NA,synonymous SNV,ZNF14:NM_021030:exon4:c.G207A:p.E69E,NA,NA,NA,NA,NA,NA
chr19,22363796,22363796,A,G,R006_S,ZNF676,Silent,NM_001001411,exon3,c.T723C,p.T241T,SNP,SNVindel,exonic,ZNF676,NA,synonymous SNV,ZNF676:NM_001001411:exon3:c.T723C:p.T241T,NA,NA,NA,NA,NA,NA
chr19,35800830,35800830,C,G,R006_S,MAG,Missense_Mutation,NM_001199216,exon8,c.C1210G,p.Q404E,SNP,SNVindel,exonic,MAG,NA,nonsynonymous SNV,"MAG:NM_001199216:exon8:c.C1210G:p.Q404E,MAG:NM_002361:exon8:c.C1285G:p.Q429E,MAG:NM_080600:exon8:c.C1285G:p.Q429E",D,D,D,T,N,T
chr19,36277456,36277456,C,A,R006_S,ARHGAP33,Missense_Mutation,NM_001172630,exon19,c.C1676A,p.S559Y,SNP,SNVindel,exonic,ARHGAP33,NA,nonsynonymous SNV,"ARHGAP33:NM_001172630:exon19:c.C1676A:p.S559Y,ARHGAP33:NM_001366178:exon20:c.C2084A:p.S695Y",D,N,D,T,N,T
chr19,36557189,36557189,G,C,R006_S,WDR62,Missense_Mutation,NM_001083961,exon5,c.G421C,p.D141H,SNP,SNVindel,exonic,WDR62,NA,nonsynonymous SNV,"WDR62:NM_001083961:exon5:c.G421C:p.D141H,WDR62:NM_173636:exon5:c.G421C:p.D141H",D,D,D,T,D,D
chr19,36582132,36582132,G,C,R006_S,WDR62,Missense_Mutation,NM_001083961,exon17,c.G2065C,p.A689P,SNP,SNVindel,exonic,WDR62,NA,nonsynonymous SNV,"WDR62:NM_001083961:exon17:c.G2065C:p.A689P,WDR62:NM_173636:exon17:c.G2065C:p.A689P",D,D,D,T,D,T
chr19,37406752,37406752,C,T,R006_S,ZNF829,Silent,NM_001171979,exon1,c.G105A,p.E35E,SNP,SNVindel,exonic,ZNF829,NA,synonymous SNV,ZNF829:NM_001171979:exon1:c.G105A:p.E35E,NA,NA,NA,NA,NA,NA
chr19,38126869,38126869,A,G,R006_S,ZFP30,Silent,NM_001320666,exon6,c.T573C,p.C191C,SNP,SNVindel,exonic,ZFP30,NA,synonymous SNV,"ZFP30:NM_001320666:exon6:c.T573C:p.C191C,ZFP30:NM_001320667:exon6:c.T573C:p.C191C,ZFP30:NM_001320668:exon6:c.T573C:p.C191C,ZFP30:NM_001320669:exon6:c.T573C:p.C191C,ZFP30:NM_001320670:exon6:c.T570C:p.C190C,ZFP30:NM_001320671:exon6:c.T570C:p.C190C,ZFP30:NM_014898:exon6:c.T573C:p.C191C",NA,NA,NA,NA,NA,NA
chr19,39950535,39950535,G,A,R006_S,SUPT5H,Missense_Mutation,NM_001130825,exon9,c.G547A,p.G183R,SNP,SNVindel,exonic,SUPT5H,NA,nonsynonymous SNV,"SUPT5H:NM_001130825:exon9:c.G547A:p.G183R,SUPT5H:NM_001319991:exon9:c.G547A:p.G183R,SUPT5H:NM_003169:exon9:c.G559A:p.G187R,SUPT5H:NM_001111020:exon10:c.G559A:p.G187R,SUPT5H:NM_001130824:exon10:c.G559A:p.G187R,SUPT5H:NM_001319990:exon10:c.G559A:p.G187R",D,D,D,.,D,D
chr19,41123038,41123038,G,A,R006_S,LTBP4,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LTBP4,NA,unknown,UNKNOWN,D,D,D,D,D,D
chr19,45579432,45579432,T,C,R006_S,ZNF296,Missense_Mutation,NM_145288,exon1,c.A200G,p.H67R,SNP,SNVindel,exonic,ZNF296,NA,nonsynonymous SNV,ZNF296:NM_145288:exon1:c.A200G:p.H67R,T,N,N,T,N,T
chr19,50364520,50364520,C,G,R006_S,PNKP,Missense_Mutation,NM_007254,exon17,c.G1551C,p.Q517H,SNP,SNVindel,exonic,PNKP,NA,nonsynonymous SNV,PNKP:NM_007254:exon17:c.G1551C:p.Q517H,D,U,D,T,N,T
chr19,50902309,50902309,C,T,R006_S,POLD1,Silent,NM_001308632,exon1,c.C201T,p.D67D,SNP,SNVindel,exonic,POLD1,NA,synonymous SNV,"POLD1:NM_001308632:exon1:c.C201T:p.D67D,POLD1:NM_001256849:exon2:c.C201T:p.D67D,POLD1:NM_002691:exon2:c.C201T:p.D67D",NA,NA,NA,NA,NA,NA
chr19,52619990,52619990,T,C,R006_S,ZNF616,Missense_Mutation,NM_178523,exon4,c.A427G,p.N143D,SNP,SNVindel,exonic,ZNF616,NA,nonsynonymous SNV,ZNF616:NM_178523:exon4:c.A427G:p.N143D,.,.,N,T,.,T
chr19,54617847,54617847,C,T,R006_S,TFPT,Missense_Mutation,NM_001321792,exon2,c.G230A,p.G77D,SNP,SNVindel,exonic,TFPT,NA,nonsynonymous SNV,"TFPT:NM_001321792:exon2:c.G230A:p.G77D,TFPT:NM_013342:exon2:c.G257A:p.G86D",T,D,N,.,N,T
chr20,25405847,25405847,A,G,R006_S,GINS1,Missense_Mutation,NM_021067,exon5,c.A331G,p.M111V,SNP,SNVindel,exonic,GINS1,NA,nonsynonymous SNV,GINS1:NM_021067:exon5:c.A331G:p.M111V,T,N,D,T,N,T
chr20,34599156,34599156,A,G,R006_S,CNBD2,Missense_Mutation,NM_001207076,exon10,c.A1246G,p.T416A,SNP,SNVindel,exonic,CNBD2,NA,nonsynonymous SNV,"CNBD2:NM_001207076:exon10:c.A1246G:p.T416A,CNBD2:NM_001365709:exon10:c.A1246G:p.T416A,CNBD2:NM_080834:exon10:c.A1246G:p.T416A",T,N,N,T,N,T
chr20,47244458,47244458,G,A,R006_S,PREX1,Missense_Mutation,NM_020820,exon38,c.C4810T,p.R1604W,SNP,SNVindel,exonic,PREX1,NA,nonsynonymous SNV,PREX1:NM_020820:exon38:c.C4810T:p.R1604W,D,U,D,T,D,T
chr20,61340984,61340984,G,A,R006_S,NTSR1,Missense_Mutation,NM_002531,exon1,c.G425A,p.R142H,SNP,SNVindel,exonic,NTSR1,NA,nonsynonymous SNV,NTSR1:NM_002531:exon1:c.G425A:p.R142H,D,D,D,T,D,T
chr21,34634902,34634902,A,G,R006_S,IFNAR2,Missense_Mutation,NM_000874,exon9,c.A877G,p.I293V,SNP,SNVindel,exonic,IFNAR2,NA,nonsynonymous SNV,"IFNAR2:NM_000874:exon9:c.A877G:p.I293V,IFNAR2:NM_207584:exon9:c.A877G:p.I293V",T,.,N,T,N,T
chr22,31289715,31289715,C,T,R006_S,OSBP2,Missense_Mutation,NM_001282742,exon9,c.C817T,p.R273W,SNP,SNVindel,exonic,OSBP2,NA,nonsynonymous SNV,"OSBP2:NM_001282742:exon9:c.C817T:p.R273W,OSBP2:NM_001282740:exon10:c.C1084T:p.R362W,OSBP2:NM_001282741:exon10:c.C1411T:p.R471W,OSBP2:NM_001282739:exon11:c.C2182T:p.R728W,OSBP2:NM_030758:exon11:c.C2185T:p.R729W,OSBP2:NM_001282738:exon12:c.C1687T:p.R563W",D,D,D,T,D,T
chr22,31829909,31829909,A,G,R006_S,DRG1,Silent,NM_004147,exon9,c.A1056G,p.K352K,SNP,SNVindel,exonic,DRG1,NA,synonymous SNV,DRG1:NM_004147:exon9:c.A1056G:p.K352K,NA,NA,NA,NA,NA,NA
chr22,36960732,36960732,C,T,R006_S,CACNG2,Missense_Mutation,NM_006078,exon4,c.G638A,p.R213H,SNP,SNVindel,exonic,CACNG2,NA,nonsynonymous SNV,CACNG2:NM_006078:exon4:c.G638A:p.R213H,T,D,D,T,N,T
chr22,50718073,50718073,C,G,R006_S,PLXNB2,Missense_Mutation,NM_012401,exon27,c.G4375C,p.E1459Q,SNP,SNVindel,exonic,PLXNB2,NA,nonsynonymous SNV,PLXNB2:NM_012401:exon27:c.G4375C:p.E1459Q,D,D,D,T,D,T
chrX,27766581,27766581,T,A,R006_S,DCAF8L2,Silent,NM_001353450,exon5,c.T1569A,p.P523P,SNP,SNVindel,exonic,DCAF8L2,NA,synonymous SNV,"DCAF8L2:NM_001353450:exon5:c.T1569A:p.P523P,DCAF8L2:NM_001353449:exon6:c.T1569A:p.P523P,DCAF8L2:NM_001353448:exon7:c.T1569A:p.P523P",NA,NA,NA,NA,NA,NA
chrX,67940778,67940778,C,T,R006_S,STARD8,Missense_Mutation,NM_001142504,exon8,c.C1822T,p.R608C,SNP,SNVindel,exonic,STARD8,NA,nonsynonymous SNV,"STARD8:NM_001142504:exon8:c.C1822T:p.R608C,STARD8:NM_014725:exon8:c.C1822T:p.R608C,STARD8:NM_001142503:exon9:c.C2062T:p.R688C",D,D,D,T,D,T
chrX,73744639,73744639,C,T,R006_S,SLC16A2,Missense_Mutation,NM_006517,exon3,c.C1021T,p.H341Y,SNP,SNVindel,exonic,SLC16A2,NA,nonsynonymous SNV,SLC16A2:NM_006517:exon3:c.C1021T:p.H341Y,.,D,D,T,.,T
chrX,114082654,114082654,C,T,R006_S,HTR2C,Silent,NM_000868,exon5,c.C438T,p.C146C,SNP,SNVindel,exonic,HTR2C,NA,synonymous SNV,"HTR2C:NM_000868:exon5:c.C438T:p.C146C,HTR2C:NM_001256761:exon5:c.C438T:p.C146C,HTR2C:NM_001256760:exon6:c.C438T:p.C146C",NA,NA,NA,NA,NA,NA
chrX,139038433,139038433,C,A,R006_S,CXorf66,Missense_Mutation,NM_001013403,exon3,c.G708T,p.L236F,SNP,SNVindel,exonic,CXorf66,NA,nonsynonymous SNV,CXorf66:NM_001013403:exon3:c.G708T:p.L236F,T,N,N,T,N,T
chr1,11710637,11710637,G,C,R007_F,FBXO2,Missense_Mutation,NM_012168,exon2,c.C277G,p.Q93E,SNP,SNVindel,exonic,FBXO2,NA,nonsynonymous SNV,FBXO2:NM_012168:exon2:c.C277G:p.Q93E,T,N,D,T,N,T
chr1,24727851,24727851,G,A,R007_F,STPG1,Missense_Mutation,NM_001199012,exon2,c.C28T,p.R10C,SNP,SNVindel,exonic,STPG1,NA,nonsynonymous SNV,"STPG1:NM_001199012:exon2:c.C28T:p.R10C,STPG1:NM_001199013:exon2:c.C28T:p.R10C",T,N,N,.,N,T
chr1,35580510,35580510,C,G,R007_F,ZMYM1,Missense_Mutation,NM_001319955,exon9,c.C2854G,p.L952V,SNP,SNVindel,exonic,ZMYM1,NA,nonsynonymous SNV,"ZMYM1:NM_001319955:exon9:c.C2854G:p.L952V,ZMYM1:NM_001289089:exon10:c.C3022G:p.L1008V,ZMYM1:NM_024772:exon10:c.C3079G:p.L1027V,ZMYM1:NM_001289088:exon11:c.C3079G:p.L1027V,ZMYM1:NM_001289090:exon11:c.C3079G:p.L1027V,ZMYM1:NM_001289091:exon11:c.C1999G:p.L667V",T,N,N,T,N,T
chr1,35580572,35580572,C,T,R007_F,ZMYM1,Silent,NM_001319955,exon9,c.C2916T,p.F972F,SNP,SNVindel,exonic,ZMYM1,NA,synonymous SNV,"ZMYM1:NM_001319955:exon9:c.C2916T:p.F972F,ZMYM1:NM_001289089:exon10:c.C3084T:p.F1028F,ZMYM1:NM_024772:exon10:c.C3141T:p.F1047F,ZMYM1:NM_001289088:exon11:c.C3141T:p.F1047F,ZMYM1:NM_001289090:exon11:c.C3141T:p.F1047F,ZMYM1:NM_001289091:exon11:c.C2061T:p.F687F",NA,NA,NA,NA,NA,NA
chr1,35580636,35580636,C,G,R007_F,ZMYM1,Missense_Mutation,NM_001319955,exon9,c.C2980G,p.L994V,SNP,SNVindel,exonic,ZMYM1,NA,nonsynonymous SNV,"ZMYM1:NM_001319955:exon9:c.C2980G:p.L994V,ZMYM1:NM_001289089:exon10:c.C3148G:p.L1050V,ZMYM1:NM_024772:exon10:c.C3205G:p.L1069V,ZMYM1:NM_001289088:exon11:c.C3205G:p.L1069V,ZMYM1:NM_001289090:exon11:c.C3205G:p.L1069V,ZMYM1:NM_001289091:exon11:c.C2125G:p.L709V",D,N,N,T,N,T
chr1,54474728,54474728,G,A,R007_F,LDLRAD1,Missense_Mutation,NM_001276392,exon4,c.C428T,p.P143L,SNP,SNVindel,exonic,LDLRAD1,NA,nonsynonymous SNV,"LDLRAD1:NM_001276392:exon4:c.C428T:p.P143L,LDLRAD1:NM_001276394:exon4:c.C278T:p.P93L,LDLRAD1:NM_001276393:exon5:c.C416T:p.P139L,LDLRAD1:NM_001010978:exon6:c.C545T:p.P182L",D,D,D,D,D,D
chr1,92646677,92646677,C,T,R007_F,KIAA1107,Missense_Mutation,NM_015237,exon6,c.C1898T,p.S633L,SNP,SNVindel,exonic,KIAA1107,NA,nonsynonymous SNV,KIAA1107:NM_015237:exon6:c.C1898T:p.S633L,T,N,N,T,N,T
chr1,153651787,153651787,C,G,R007_F,NPR1,Missense_Mutation,NM_000906,exon1,c.C203G,p.A68G,SNP,SNVindel,exonic,NPR1,NA,nonsynonymous SNV,NPR1:NM_000906:exon1:c.C203G:p.A68G,T,N,N,T,N,T
chr1,157559069,157559069,G,A,R007_F,FCRL4,Missense_Mutation,NM_031282,exon3,c.C232T,p.R78W,SNP,SNVindel,exonic,FCRL4,NA,nonsynonymous SNV,FCRL4:NM_031282:exon3:c.C232T:p.R78W,D,N,N,T,D,T
chr1,173822638,173822638,C,T,R007_F,DARS2,Missense_Mutation,NM_001365212,exon13,c.C1343T,p.S448L,SNP,SNVindel,exonic,DARS2,NA,nonsynonymous SNV,"DARS2:NM_001365212:exon13:c.C1343T:p.S448L,DARS2:NM_018122:exon14:c.C1496T:p.S499L",D,D,D,D,D,D
chr1,228345726,228345726,G,A,R007_F,GJC2,Silent,NM_020435,exon2,c.G267A,p.T89T,SNP,SNVindel,exonic,GJC2,NA,synonymous SNV,GJC2:NM_020435:exon2:c.G267A:p.T89T,NA,NA,NA,NA,NA,NA
chr1,233353809,233353809,C,T,R007_F,PCNX2,Missense_Mutation,NM_014801,exon11,c.G2626A,p.V876I,SNP,SNVindel,exonic,PCNX2,NA,nonsynonymous SNV,PCNX2:NM_014801:exon11:c.G2626A:p.V876I,T,.,D,T,N,T
chr2,24261264,24261264,G,C,R007_F,WDCP,Nonsense_Mutation,NM_001142319,exon2,c.C1101G,p.Y367X,SNP,SNVindel,exonic,WDCP,NA,stopgain,"WDCP:NM_001142319:exon2:c.C1101G:p.Y367X,WDCP:NM_025203:exon2:c.C1101G:p.Y367X",.,D,A,.,.,.
chr2,28248202,28248202,G,A,R007_F,BABAM2,Missense_Mutation,NM_001261840,exon5,c.G410A,p.R137H,SNP,SNVindel,exonic,BABAM2,NA,nonsynonymous SNV,"BABAM2:NM_001261840:exon5:c.G410A:p.R137H,BABAM2:NM_001329112:exon5:c.G410A:p.R137H,BABAM2:NM_001329114:exon5:c.G410A:p.R137H,BABAM2:NM_004899:exon5:c.G410A:p.R137H,BABAM2:NM_199191:exon5:c.G410A:p.R137H,BABAM2:NM_199192:exon5:c.G410A:p.R137H,BABAM2:NM_001329113:exon6:c.G410A:p.R137H,BABAM2:NM_001329115:exon6:c.G410A:p.R137H,BABAM2:NM_199193:exon6:c.G410A:p.R137H,BABAM2:NM_199194:exon6:c.G410A:p.R137H",D,D,D,.,D,T
chr2,74901629,74901629,A,C,R007_F,SEMA4F,Missense_Mutation,NM_001271661,exon4,c.A362C,p.D121A,SNP,SNVindel,exonic,SEMA4F,NA,nonsynonymous SNV,"SEMA4F:NM_001271661:exon4:c.A362C:p.D121A,SEMA4F:NM_001271662:exon7:c.A728C:p.D243A,SEMA4F:NM_004263:exon8:c.A827C:p.D276A",D,D,D,T,D,D
chr2,85108070,85108070,C,A,R007_F,TRABD2A,Nonsense_Mutation,NM_001080824,exon1,c.G94T,p.E32X,SNP,SNVindel,exonic,TRABD2A,NA,stopgain,"TRABD2A:NM_001080824:exon1:c.G94T:p.E32X,TRABD2A:NM_001277053:exon1:c.G94T:p.E32X,TRABD2A:NM_001307978:exon1:c.G94T:p.E32X",.,U,A,.,.,.
chr2,113484315,113484315,G,T,R007_F,NT5DC4,Missense_Mutation,NM_001350494,exon15,c.G1170T,p.Q390H,SNP,SNVindel,exonic,NT5DC4,NA,nonsynonymous SNV,NT5DC4:NM_001350494:exon15:c.G1170T:p.Q390H,D,N,N,T,N,T
chr2,125175089,125175089,T,A,R007_F,CNTNAP5,Missense_Mutation,NM_001367498,exon4,c.T451A,p.F151I,SNP,SNVindel,exonic,CNTNAP5,NA,nonsynonymous SNV,"CNTNAP5:NM_001367498:exon4:c.T451A:p.F151I,CNTNAP5:NM_130773:exon4:c.T451A:p.F151I",D,D,D,D,D,D
chr2,132021658,132021658,G,A,R007_F,POTEE,Missense_Mutation,NM_001083538,exon15,c.G2630A,p.R877H,SNP,SNVindel,exonic,POTEE,NA,nonsynonymous SNV,POTEE:NM_001083538:exon15:c.G2630A:p.R877H,D,.,D,D,D,D
chr2,141283863,141283863,A,C,R007_F,LRP1B,Missense_Mutation,NM_018557,exon48,c.T7819G,p.S2607A,SNP,SNVindel,exonic,LRP1B,NA,nonsynonymous SNV,LRP1B:NM_018557:exon48:c.T7819G:p.S2607A,D,D,D,D,N,D
chr2,170032935,170032935,G,A,R007_F,LRP2,Silent,NM_004525,exon54,c.C10557T,p.C3519C,SNP,SNVindel,exonic,LRP2,NA,synonymous SNV,LRP2:NM_004525:exon54:c.C10557T:p.C3519C,NA,NA,NA,NA,NA,NA
chr2,179658217,179658217,C,T,R007_F,TTN,Missense_Mutation,NM_001256850,exon9,c.G1450A,p.D484N,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_001256850:exon9:c.G1450A:p.D484N,TTN:NM_001267550:exon9:c.G1450A:p.D484N,TTN:NM_003319:exon9:c.G1450A:p.D484N,TTN:NM_133378:exon9:c.G1450A:p.D484N,TTN:NM_133379:exon9:c.G1450A:p.D484N,TTN:NM_133432:exon9:c.G1450A:p.D484N,TTN:NM_133437:exon9:c.G1450A:p.D484N",T,.,D,T,D,T
chr2,192261204,192261204,C,A,R007_F,MYO1B,Missense_Mutation,NM_001130158,exon21,c.C2276A,p.S759Y,SNP,SNVindel,exonic,MYO1B,NA,nonsynonymous SNV,"MYO1B:NM_001130158:exon21:c.C2276A:p.S759Y,MYO1B:NM_001161819:exon21:c.C2276A:p.S759Y,MYO1B:NM_001330237:exon21:c.C2276A:p.S759Y,MYO1B:NM_001330238:exon21:c.C2276A:p.S759Y,MYO1B:NM_012223:exon21:c.C2276A:p.S759Y",D,D,D,T,D,T
chr2,220075534,220075534,G,C,R007_F,ABCB6,Missense_Mutation,NM_001349828,exon15,c.C2017G,p.Q673E,SNP,SNVindel,exonic,ABCB6,NA,nonsynonymous SNV,"ABCB6:NM_001349828:exon15:c.C2017G:p.Q673E,ABCB6:NM_005689:exon16:c.C2155G:p.Q719E",T,D,D,D,N,T
chr2,241905161,241905161,C,A,R007_F,CROCC2,Silent,NM_001351305,exon24,c.C3712A,p.R1238R,SNP,SNVindel,exonic,CROCC2,NA,synonymous SNV,CROCC2:NM_001351305:exon24:c.C3712A:p.R1238R,NA,NA,NA,NA,NA,NA
chr3,97251250,97251250,G,T,R007_F,EPHA6,Missense_Mutation,NM_001278300,exon8,c.G425T,p.R142I,SNP,SNVindel,exonic,EPHA6,NA,nonsynonymous SNV,"EPHA6:NM_001278300:exon8:c.G425T:p.R142I,EPHA6:NM_173655:exon9:c.G425T:p.R142I,EPHA6:NM_001080448:exon11:c.G2249T:p.R750I",D,.,D,D,D,D
chr3,99648769,99648769,G,C,R007_F,FILIP1L,Silent,NM_001042459,exon3,c.C357G,p.L119L,SNP,SNVindel,exonic,FILIP1L,NA,synonymous SNV,"FILIP1L:NM_001042459:exon3:c.C357G:p.L119L,FILIP1L:NM_182909:exon3:c.C357G:p.L119L",NA,NA,NA,NA,NA,NA
chr3,123444830,123444830,G,A,R007_F,MYLK,Missense_Mutation,NM_001321309,exon11,c.C1084T,p.R362W,SNP,SNVindel,exonic,MYLK,NA,nonsynonymous SNV,"MYLK:NM_001321309:exon11:c.C1084T:p.R362W,MYLK:NM_053026:exon11:c.C1405T:p.R469W,MYLK:NM_053028:exon11:c.C1405T:p.R469W,MYLK:NM_053025:exon12:c.C1612T:p.R538W,MYLK:NM_053027:exon12:c.C1612T:p.R538W",D,.,N,T,N,T
chr3,193125132,193125132,G,T,R007_F,ATP13A4,Missense_Mutation,NM_032279,exon29,c.C3348A,p.S1116R,SNP,SNVindel,exonic,ATP13A4,NA,nonsynonymous SNV,ATP13A4:NM_032279:exon29:c.C3348A:p.S1116R,T,N,N,D,N,T
chr4,173232894,173232894,G,A,R007_F,GALNTL6,Missense_Mutation,NM_001034845,exon4,c.G377A,p.R126H,SNP,SNVindel,exonic,GALNTL6,NA,nonsynonymous SNV,GALNTL6:NM_001034845:exon4:c.G377A:p.R126H,D,N,D,T,D,D
chr4,189068385,189068385,C,T,R007_F,TRIML1,Silent,NM_178556,exon6,c.C1266T,p.N422N,SNP,SNVindel,exonic,TRIML1,NA,synonymous SNV,TRIML1:NM_178556:exon6:c.C1266T:p.N422N,NA,NA,NA,NA,NA,NA
chr5,60834653,60834653,G,A,R007_F,ZSWIM6,Silent,NM_020928,exon11,c.G2394A,p.L798L,SNP,SNVindel,exonic,ZSWIM6,NA,synonymous SNV,ZSWIM6:NM_020928:exon11:c.G2394A:p.L798L,NA,NA,NA,NA,NA,NA
chr5,109026234,109026234,G,T,R007_F,MAN2A1,Missense_Mutation,NM_002372,exon1,c.G116T,p.R39L,SNP,SNVindel,exonic,MAN2A1,NA,nonsynonymous SNV,MAN2A1:NM_002372:exon1:c.G116T:p.R39L,T,N,D,T,N,T
chr5,121518255,121518255,C,A,R007_F,LOC100505841,Missense_Mutation,NM_001195535,exon3,c.C284A,p.P95H,SNP,SNVindel,exonic,LOC100505841,NA,nonsynonymous SNV,LOC100505841:NM_001195535:exon3:c.C284A:p.P95H,NA,NA,NA,NA,NA,NA
chr5,140187759,140187759,A,C,R007_F,PCDHA4,Silent,NM_018907,exon1,c.A987C,p.P329P,SNP,SNVindel,exonic,PCDHA4,NA,synonymous SNV,"PCDHA4:NM_018907:exon1:c.A987C:p.P329P,PCDHA4:NM_031500:exon1:c.A987C:p.P329P",NA,NA,NA,NA,NA,NA
chr5,140725268,140725268,C,T,R007_F,PCDHGA3,Silent,NM_018916,exon1,c.C1668T,p.N556N,SNP,SNVindel,exonic,PCDHGA3,NA,synonymous SNV,"PCDHGA3:NM_018916:exon1:c.C1668T:p.N556N,PCDHGA3:NM_032011:exon1:c.C1668T:p.N556N",NA,NA,NA,NA,NA,NA
chr5,160886667,160886667,G,A,R007_F,GABRB2,Missense_Mutation,NM_000813,exon5,c.C421T,p.R141C,SNP,SNVindel,exonic,GABRB2,NA,nonsynonymous SNV,"GABRB2:NM_000813:exon5:c.C421T:p.R141C,GABRB2:NM_021911:exon5:c.C421T:p.R141C",D,D,D,T,D,D
chr5,166802222,166802222,C,T,R007_F,TENM2,Silent,NM_001122679,exon3,c.C246T,p.A82A,SNP,SNVindel,exonic,TENM2,NA,synonymous SNV,TENM2:NM_001122679:exon3:c.C246T:p.A82A,NA,NA,NA,NA,NA,NA
chr6,7562974,7562974,C,T,R007_F,DSP,Silent,NM_001008844,exon5,c.C687T,p.G229G,SNP,SNVindel,exonic,DSP,NA,synonymous SNV,"DSP:NM_001008844:exon5:c.C687T:p.G229G,DSP:NM_001319034:exon5:c.C687T:p.G229G,DSP:NM_004415:exon5:c.C687T:p.G229G",NA,NA,NA,NA,NA,NA
chr6,50011304,50011304,T,G,R007_F,DEFB112,Missense_Mutation,NM_001369057,exon2,c.A269C,p.K90T,SNP,SNVindel,exonic,DEFB112,NA,nonsynonymous SNV,DEFB112:NM_001369057:exon2:c.A269C:p.K90T,D,.,N,.,N,T
chr6,90382378,90382378,C,T,R007_F,MDN1,Silent,NM_014611,exon81,c.G13518A,p.E4506E,SNP,SNVindel,exonic,MDN1,NA,synonymous SNV,MDN1:NM_014611:exon81:c.G13518A:p.E4506E,NA,NA,NA,NA,NA,NA
chr6,90402595,90402595,C,T,R007_F,MDN1,Missense_Mutation,NM_014611,exon63,c.G10154A,p.R3385Q,SNP,SNVindel,exonic,MDN1,NA,nonsynonymous SNV,MDN1:NM_014611:exon63:c.G10154A:p.R3385Q,T,N,D,T,N,T
chr6,111694337,111694337,G,T,R007_F,REV3L,Missense_Mutation,NM_002912,exon14,c.C5221A,p.H1741N,SNP,SNVindel,exonic,REV3L,NA,nonsynonymous SNV,"REV3L:NM_002912:exon14:c.C5221A:p.H1741N,REV3L:NM_001286432:exon15:c.C4987A:p.H1663N,REV3L:NM_001286431:exon16:c.C4987A:p.H1663N",T,N,D,T,N,T
chr6,152265379,152265379,G,A,R007_F,ESR1,Missense_Mutation,NM_000125,exon4,c.G832A,p.G278S,SNP,SNVindel,exonic,ESR1,NA,nonsynonymous SNV,"ESR1:NM_000125:exon4:c.G832A:p.G278S,ESR1:NM_001328100:exon4:c.G313A:p.G105S,ESR1:NM_001122740:exon5:c.G832A:p.G278S,ESR1:NM_001122741:exon5:c.G832A:p.G278S,ESR1:NM_001291230:exon5:c.G838A:p.G280S,ESR1:NM_001291241:exon5:c.G829A:p.G277S,ESR1:NM_001122742:exon6:c.G832A:p.G278S",T,N,D,D,N,T
chr6,152605302,152605302,C,G,R007_F,SYNE1,Missense_Mutation,NM_033071,exon95,c.G17805C,p.L5935F,SNP,SNVindel,exonic,SYNE1,NA,nonsynonymous SNV,"SYNE1:NM_033071:exon95:c.G17805C:p.L5935F,SYNE1:NM_182961:exon96:c.G18018C:p.L6006F",D,N,D,T,N,T
chr6,160557275,160557275,G,C,R007_F,SLC22A1,Missense_Mutation,NM_003057,exon5,c.G863C,p.W288S,SNP,SNVindel,exonic,SLC22A1,NA,nonsynonymous SNV,"SLC22A1:NM_003057:exon5:c.G863C:p.W288S,SLC22A1:NM_153187:exon5:c.G863C:p.W288S",D,D,D,T,D,D
chr7,2962848,2962848,G,A,R007_F,CARD11,Missense_Mutation,NM_032415,exon16,c.C2060T,p.A687V,SNP,SNVindel,exonic,CARD11,NA,nonsynonymous SNV,"CARD11:NM_032415:exon16:c.C2060T:p.A687V,CARD11:NM_001324281:exon17:c.C2060T:p.A687V",T,D,D,T,N,T
chr7,20767977,20767977,T,C,R007_F,ABCB5,Silent,NM_178559,exon14,c.T1431C,p.Y477Y,SNP,SNVindel,exonic,ABCB5,NA,synonymous SNV,"ABCB5:NM_178559:exon14:c.T1431C:p.Y477Y,ABCB5:NM_001163941:exon23:c.T2766C:p.Y922Y",NA,NA,NA,NA,NA,NA
chr7,31378331,31378331,G,A,R007_F,NEUROD6,Silent,NM_022728,exon2,c.C552T,p.N184N,SNP,SNVindel,exonic,NEUROD6,NA,synonymous SNV,NEUROD6:NM_022728:exon2:c.C552T:p.N184N,NA,NA,NA,NA,NA,NA
chr7,66413544,66413544,C,T,R007_F,TMEM248,Silent,NM_017994,exon4,c.C459T,p.H153H,SNP,SNVindel,exonic,TMEM248,NA,synonymous SNV,TMEM248:NM_017994:exon4:c.C459T:p.H153H,NA,NA,NA,NA,NA,NA
chr7,80303397,80303397,T,A,R007_F,CD36,Silent,NM_001289908,exon10,c.T1236A,p.V412V,SNP,SNVindel,exonic,CD36,NA,synonymous SNV,"CD36:NM_001289908:exon10:c.T1236A:p.V412V,CD36:NM_001371080:exon11:c.T888A:p.V296V,CD36:NM_001127444:exon12:c.T1353A:p.V451V,CD36:NM_001289909:exon12:c.T1173A:p.V391V,CD36:NM_001289911:exon12:c.T1125A:p.V375V,CD36:NM_001127443:exon13:c.T1353A:p.V451V,CD36:NM_000072:exon14:c.T1353A:p.V451V,CD36:NM_001001547:exon14:c.T1353A:p.V451V,CD36:NM_001001548:exon14:c.T1353A:p.V451V,CD36:NM_001371074:exon14:c.T1353A:p.V451V,CD36:NM_001371075:exon14:c.T1353A:p.V451V,CD36:NM_001371077:exon14:c.T1353A:p.V451V,CD36:NM_001371078:exon14:c.T1353A:p.V451V,CD36:NM_001371079:exon14:c.T1251A:p.V417V,CD36:NM_001371081:exon14:c.T888A:p.V296V",NA,NA,NA,NA,NA,NA
chr7,81346664,81346664,G,A,R007_F,HGF,Missense_Mutation,NM_000601,exon11,c.C1289T,p.P430L,SNP,SNVindel,exonic,HGF,NA,nonsynonymous SNV,"HGF:NM_000601:exon11:c.C1289T:p.P430L,HGF:NM_001010932:exon11:c.C1274T:p.P425L",T,D,D,T,D,T
chr7,100382334,100382334,G,C,R007_F,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,.,N,N,.,.,T
chr7,100635472,100635472,C,G,R007_F,MUC12,Missense_Mutation,NM_001164462,exon2,c.C1628G,p.P543R,SNP,SNVindel,exonic,MUC12,NA,nonsynonymous SNV,MUC12:NM_001164462:exon2:c.C1628G:p.P543R,D,.,N,T,N,T
chr7,100778832,100778832,C,A,R007_F,SERPINE1,Silent,NM_000602,exon6,c.C957A,p.T319T,SNP,SNVindel,exonic,SERPINE1,NA,synonymous SNV,SERPINE1:NM_000602:exon6:c.C957A:p.T319T,NA,NA,NA,NA,NA,NA
chr7,130356525,130356525,G,T,R007_F,TSGA13,Missense_Mutation,NM_052933,exon7,c.C634A,p.H212N,SNP,SNVindel,exonic,TSGA13,NA,nonsynonymous SNV,"TSGA13:NM_052933:exon7:c.C634A:p.H212N,TSGA13:NM_001304968:exon8:c.C634A:p.H212N",T,N,N,.,N,T
chr7,132192828,132192828,C,A,R007_F,PLXNA4,Nonsense_Mutation,NM_001105543,exon2,c.G625T,p.E209X,SNP,SNVindel,exonic,PLXNA4,NA,stopgain,"PLXNA4:NM_001105543:exon2:c.G625T:p.E209X,PLXNA4:NM_020911:exon2:c.G625T:p.E209X,PLXNA4:NM_181775:exon3:c.G625T:p.E209X",.,U,A,.,.,.
chr7,150434679,150434679,C,T,R007_F,GIMAP1-GIMAP5,Silent,NM_001303630,exon3,c.C105T,p.P35P,SNP,SNVindel,exonic,GIMAP1-GIMAP5,NA,synonymous SNV,"GIMAP1-GIMAP5:NM_001303630:exon3:c.C105T:p.P35P,GIMAP1-GIMAP5:NM_001199577:exon4:c.C489T:p.P163P",NA,NA,NA,NA,NA,NA
chr8,22862973,22862973,G,C,R007_F,RHOBTB2,Missense_Mutation,NM_001160037,exon3,c.G302C,p.R101P,SNP,SNVindel,exonic,RHOBTB2,NA,nonsynonymous SNV,"RHOBTB2:NM_001160037:exon3:c.G302C:p.R101P,RHOBTB2:NM_015178:exon3:c.G281C:p.R94P,RHOBTB2:NM_001160036:exon5:c.G347C:p.R116P",D,D,D,T,D,T
chr8,67341408,67341408,G,A,R007_F,RRS1,Silent,NM_015169,exon1,c.G42A,p.E14E,SNP,SNVindel,exonic,RRS1,NA,synonymous SNV,RRS1:NM_015169:exon1:c.G42A:p.E14E,NA,NA,NA,NA,NA,NA
chr8,143559558,143559558,G,A,R007_F,ADGRB1,Silent,NM_001702,exon7,c.G1398A,p.V466V,SNP,SNVindel,exonic,ADGRB1,NA,synonymous SNV,ADGRB1:NM_001702:exon7:c.G1398A:p.V466V,NA,NA,NA,NA,NA,NA
chr9,90262303,90262303,G,T,R007_F,DAPK1,Missense_Mutation,NM_001288729,exon14,c.G1314T,p.L438F,SNP,SNVindel,exonic,DAPK1,NA,nonsynonymous SNV,"DAPK1:NM_001288729:exon14:c.G1314T:p.L438F,DAPK1:NM_001288730:exon14:c.G1314T:p.L438F,DAPK1:NM_001288731:exon14:c.G1314T:p.L438F,DAPK1:NM_004938:exon14:c.G1314T:p.L438F",T,D,D,T,N,T
chr9,97876929,97876929,A,G,R007_F,FANCC,Missense_Mutation,NM_000136,exon12,c.T1136C,p.V379A,SNP,SNVindel,exonic,FANCC,NA,nonsynonymous SNV,"FANCC:NM_000136:exon12:c.T1136C:p.V379A,FANCC:NM_001243743:exon12:c.T1136C:p.V379A,FANCC:NM_001243744:exon12:c.T1136C:p.V379A",T,N,N,T,N,T
chr9,104324242,104324242,C,T,R007_F,RNF20,Silent,NM_019592,exon19,c.C2700T,p.D900D,SNP,SNVindel,exonic,RNF20,NA,synonymous SNV,RNF20:NM_019592:exon19:c.C2700T:p.D900D,NA,NA,NA,NA,NA,NA
chr9,136529053,136529053,C,T,R007_F,SARDH,Silent,NM_001134707,exon21,c.G2715A,p.S905S,SNP,SNVindel,exonic,SARDH,NA,synonymous SNV,"SARDH:NM_001134707:exon21:c.G2715A:p.S905S,SARDH:NM_007101:exon21:c.G2715A:p.S905S",NA,NA,NA,NA,NA,NA
chr10,79601881,79601881,G,T,R007_F,DLG5,Missense_Mutation,NM_004747,exon7,c.C1195A,p.L399M,SNP,SNVindel,exonic,DLG5,NA,nonsynonymous SNV,DLG5:NM_004747:exon7:c.C1195A:p.L399M,T,N,N,T,N,T
chr11,3039739,3039739,G,A,R007_F,CARS,Missense_Mutation,NM_001751,exon13,c.C1279T,p.R427W,SNP,SNVindel,exonic,CARS,NA,nonsynonymous SNV,"CARS:NM_001751:exon13:c.C1279T:p.R427W,CARS:NM_139273:exon13:c.C1279T:p.R427W,CARS:NM_001014437:exon14:c.C1528T:p.R510W,CARS:NM_001194997:exon14:c.C1528T:p.R510W",D,D,D,T,D,D
chr11,46722991,46722991,C,A,R007_F,ZNF408,Missense_Mutation,NM_001184751,exon2,c.C71A,p.S24Y,SNP,SNVindel,exonic,ZNF408,NA,nonsynonymous SNV,"ZNF408:NM_001184751:exon2:c.C71A:p.S24Y,ZNF408:NM_024741:exon2:c.C95A:p.S32Y",D,N,N,T,N,T
chr11,59814424,59814424,G,C,R007_F,OOSP2,Missense_Mutation,NM_173801,exon4,c.G355C,p.V119L,SNP,SNVindel,exonic,OOSP2,NA,nonsynonymous SNV,OOSP2:NM_173801:exon4:c.G355C:p.V119L,T,N,N,D,N,T
chr11,111680439,111680439,C,T,R007_F,ALG9,Missense_Mutation,NM_001352409,exon13,c.G1127A,p.R376Q,SNP,SNVindel,exonic,ALG9,NA,nonsynonymous SNV,"ALG9:NM_001352409:exon13:c.G1127A:p.R376Q,ALG9:NM_001352423:exon13:c.G1004A:p.R335Q,ALG9:NM_001077691:exon14:c.G1148A:p.R383Q,ALG9:NM_001077692:exon14:c.G1127A:p.R376Q,ALG9:NM_001352410:exon14:c.G1127A:p.R376Q,ALG9:NM_001352411:exon14:c.G1127A:p.R376Q,ALG9:NM_001352412:exon14:c.G1127A:p.R376Q,ALG9:NM_001352413:exon14:c.G1148A:p.R383Q,ALG9:NM_001352414:exon14:c.G1148A:p.R383Q,ALG9:NM_001352415:exon14:c.G1127A:p.R376Q,ALG9:NM_001352416:exon14:c.G1127A:p.R376Q,ALG9:NM_001352418:exon14:c.G1517A:p.R506Q,ALG9:NM_001352419:exon14:c.G1148A:p.R383Q,ALG9:NM_001352420:exon14:c.G1127A:p.R376Q,ALG9:NM_001352421:exon14:c.G1127A:p.R376Q,ALG9:NM_001077690:exon15:c.G1640A:p.R547Q,ALG9:NM_001352417:exon15:c.G1640A:p.R547Q,ALG9:NM_001352422:exon15:c.G1052A:p.R351Q,ALG9:NM_024740:exon15:c.G1661A:p.R554Q",T,D,D,T,N,T
chr11,111746428,111746428,G,A,R007_F,FDXACB1,Missense_Mutation,NM_138378,exon5,c.C1093T,p.L365F,SNP,SNVindel,exonic,FDXACB1,NA,nonsynonymous SNV,FDXACB1:NM_138378:exon5:c.C1093T:p.L365F,T,N,N,T,N,T
chr11,119031767,119031767,G,T,R007_F,ABCG4,Missense_Mutation,NM_001142505,exon15,c.G1892T,p.R631L,SNP,SNVindel,exonic,ABCG4,NA,nonsynonymous SNV,"ABCG4:NM_001142505:exon15:c.G1892T:p.R631L,ABCG4:NM_001348191:exon15:c.G1892T:p.R631L,ABCG4:NM_022169:exon15:c.G1892T:p.R631L,ABCG4:NM_001348192:exon16:c.G1709T:p.R570L",.,D,D,.,.,T
chr12,11461745,11461745,G,C,R007_F,PRB4,Missense_Mutation,NM_001261399,exon3,c.C172G,p.Q58E,SNP,SNVindel,exonic,PRB4,NA,nonsynonymous SNV,"PRB4:NM_001261399:exon3:c.C172G:p.Q58E,PRB4:NM_002723:exon3:c.C172G:p.Q58E",T,.,N,T,N,T
chr12,13715930,13715930,C,T,R007_F,GRIN2B,Silent,NM_000834,exon13,c.G4242A,p.A1414A,SNP,SNVindel,exonic,GRIN2B,NA,synonymous SNV,GRIN2B:NM_000834:exon13:c.G4242A:p.A1414A,NA,NA,NA,NA,NA,NA
chr12,49950216,49950216,C,A,R007_F,KCNH3,Silent,NM_001314030,exon13,c.C2352A,p.G784G,SNP,SNVindel,exonic,KCNH3,NA,synonymous SNV,"KCNH3:NM_001314030:exon13:c.C2352A:p.G784G,KCNH3:NM_012284:exon13:c.C2532A:p.G844G",NA,NA,NA,NA,NA,NA
chr12,56553459,56553459,C,A,R007_F,MYL6,Silent,NM_021019,exon3,c.C120A,p.G40G,SNP,SNVindel,exonic,MYL6,NA,synonymous SNV,"MYL6:NM_021019:exon3:c.C120A:p.G40G,MYL6:NM_079423:exon3:c.C120A:p.G40G",NA,NA,NA,NA,NA,NA
chr12,66704114,66704114,C,A,R007_F,HELB,Missense_Mutation,NM_001370285,exon4,c.C1406A,p.P469H,SNP,SNVindel,exonic,HELB,NA,nonsynonymous SNV,"HELB:NM_001370285:exon4:c.C1406A:p.P469H,HELB:NM_033647:exon4:c.C1406A:p.P469H",D,D,D,T,D,T
chr12,71286605,71286605,C,T,R007_F,PTPRR,Missense_Mutation,NM_002849,exon2,c.G211A,p.E71K,SNP,SNVindel,exonic,PTPRR,NA,nonsynonymous SNV,PTPRR:NM_002849:exon2:c.G211A:p.E71K,T,U,N,T,N,T
chr12,109719311,109719311,C,T,R007_F,FOXN4,Missense_Mutation,NM_213596,exon9,c.G1195A,p.A399T,SNP,SNVindel,exonic,FOXN4,NA,nonsynonymous SNV,FOXN4:NM_213596:exon9:c.G1195A:p.A399T,T,N,N,D,N,T
chr13,19751409,19751409,G,T,R007_F,TUBA3C,Silent,NM_006001,exon4,c.C714A,p.I238I,SNP,SNVindel,exonic,TUBA3C,NA,synonymous SNV,TUBA3C:NM_006001:exon4:c.C714A:p.I238I,NA,NA,NA,NA,NA,NA
chr14,21793467,21793467,G,A,R007_F,RPGRIP1,Silent,NM_020366,exon15,c.G2292A,p.A764A,SNP,SNVindel,exonic,RPGRIP1,NA,synonymous SNV,RPGRIP1:NM_020366:exon15:c.G2292A:p.A764A,NA,NA,NA,NA,NA,NA
chr14,21868340,21868340,T,C,R007_F,CHD8,Missense_Mutation,NM_001170629,exon24,c.A4697G,p.Y1566C,SNP,SNVindel,exonic,CHD8,NA,nonsynonymous SNV,"CHD8:NM_001170629:exon24:c.A4697G:p.Y1566C,CHD8:NM_020920:exon24:c.A3860G:p.Y1287C",D,D,D,D,D,D
chr14,21868358,21868358,A,C,R007_F,CHD8,Missense_Mutation,NM_001170629,exon24,c.T4679G,p.L1560W,SNP,SNVindel,exonic,CHD8,NA,nonsynonymous SNV,"CHD8:NM_001170629:exon24:c.T4679G:p.L1560W,CHD8:NM_020920:exon24:c.T3842G:p.L1281W",D,D,D,D,D,D
chr15,31339427,31339427,T,C,R007_F,TRPM1,Missense_Mutation,NM_001252020,exon14,c.A1702G,p.S568G,SNP,SNVindel,exonic,TRPM1,NA,nonsynonymous SNV,"TRPM1:NM_001252020:exon14:c.A1702G:p.S568G,TRPM1:NM_002420:exon14:c.A1585G:p.S529G,TRPM1:NM_001252024:exon15:c.A1651G:p.S551G",D,D,D,T,D,T
chr15,38786614,38786614,A,G,R007_F,RASGRP1,Missense_Mutation,NM_001128602,exon15,c.T2123C,p.L708P,SNP,SNVindel,exonic,RASGRP1,NA,nonsynonymous SNV,"RASGRP1:NM_001128602:exon15:c.T2123C:p.L708P,RASGRP1:NM_005739:exon16:c.T2228C:p.L743P",T,N,N,T,N,T
chr15,74703233,74703233,C,G,R007_F,SEMA7A,Missense_Mutation,NM_001146029,exon13,c.G1691C,p.R564P,SNP,SNVindel,exonic,SEMA7A,NA,nonsynonymous SNV,"SEMA7A:NM_001146029:exon13:c.G1691C:p.R564P,SEMA7A:NM_001146030:exon14:c.G1238C:p.R413P,SEMA7A:NM_003612:exon14:c.G1733C:p.R578P",T,N,D,T,N,T
chr15,89391161,89391161,C,T,R007_F,ACAN,Missense_Mutation,NM_001135,exon9,c.C1624T,p.R542W,SNP,SNVindel,exonic,ACAN,NA,nonsynonymous SNV,"ACAN:NM_001135:exon9:c.C1624T:p.R542W,ACAN:NM_001369268:exon9:c.C1624T:p.R542W,ACAN:NM_013227:exon9:c.C1624T:p.R542W",D,.,D,T,D,T
chr16,19063046,19063046,G,A,R007_F,TMC7,Silent,NM_001324268,exon12,c.G753A,p.P251P,SNP,SNVindel,exonic,TMC7,NA,synonymous SNV,"TMC7:NM_001324268:exon12:c.G753A:p.P251P,TMC7:NM_001160364:exon13:c.G1449A:p.P483P,TMC7:NM_001300732:exon13:c.G1779A:p.P593P,TMC7:NM_001324263:exon13:c.G753A:p.P251P,TMC7:NM_001324265:exon13:c.G1779A:p.P593P,TMC7:NM_024847:exon13:c.G1779A:p.P593P",NA,NA,NA,NA,NA,NA
chr16,47117676,47117676,T,A,R007_F,NETO2,Missense_Mutation,NM_001201477,exon9,c.A1013T,p.K338M,SNP,SNVindel,exonic,NETO2,NA,nonsynonymous SNV,"NETO2:NM_001201477:exon9:c.A1013T:p.K338M,NETO2:NM_018092:exon9:c.A1034T:p.K345M",D,D,D,T,N,T
chr16,89619541,89619541,C,G,R007_F,SPG7,Missense_Mutation,NM_001363850,exon14,c.C1934G,p.S645C,SNP,SNVindel,exonic,SPG7,NA,nonsynonymous SNV,"SPG7:NM_001363850:exon14:c.C1934G:p.S645C,SPG7:NM_003119:exon14:c.C1934G:p.S645C",D,D,D,D,D,D
chr17,12920407,12920407,T,C,R007_F,ELAC2,Missense_Mutation,NM_001165962,exon2,c.A277G,p.R93G,SNP,SNVindel,exonic,ELAC2,NA,nonsynonymous SNV,"ELAC2:NM_001165962:exon2:c.A277G:p.R93G,ELAC2:NM_018127:exon2:c.A277G:p.R93G,ELAC2:NM_173717:exon2:c.A277G:p.R93G",D,D,D,T,D,T
chr17,19861857,19861857,T,C,R007_F,AKAP10,Missense_Mutation,NM_001330152,exon4,c.A347G,p.Q116R,SNP,SNVindel,exonic,AKAP10,NA,nonsynonymous SNV,"AKAP10:NM_001330152:exon4:c.A347G:p.Q116R,AKAP10:NM_007202:exon4:c.A347G:p.Q116R",T,D,D,T,N,T
chr17,21205536,21205536,A,C,R007_F,MAP2K3,Missense_Mutation,NM_002756,exon6,c.A394C,p.I132L,SNP,SNVindel,exonic,MAP2K3,NA,nonsynonymous SNV,"MAP2K3:NM_002756:exon6:c.A394C:p.I132L,MAP2K3:NM_145109:exon6:c.A481C:p.I161L,MAP2K3:NM_001316332:exon7:c.A394C:p.I132L",T,D,D,T,N,T
chr17,26711510,26711510,C,G,R007_F,SARM1,Silent,NM_015077,exon7,c.C1221G,p.S407S,SNP,SNVindel,exonic,SARM1,NA,synonymous SNV,SARM1:NM_015077:exon7:c.C1221G:p.S407S,NA,NA,NA,NA,NA,NA
chr17,32965206,32965206,C,A,R007_F,TMEM132E,Silent,NM_001304438,exon9,c.C3180A,p.P1060P,SNP,SNVindel,exonic,TMEM132E,NA,synonymous SNV,TMEM132E:NM_001304438:exon9:c.C3180A:p.P1060P,NA,NA,NA,NA,NA,NA
chr17,33768287,33768287,C,T,R007_F,SLFN13,Missense_Mutation,NM_144682,exon6,c.G2021A,p.R674H,SNP,SNVindel,exonic,SLFN13,NA,nonsynonymous SNV,SLFN13:NM_144682:exon6:c.G2021A:p.R674H,T,N,N,D,D,T
chr17,39728108,39728108,C,T,R007_F,KRT9,Missense_Mutation,NM_000226,exon1,c.G137A,p.R46Q,SNP,SNVindel,exonic,KRT9,NA,nonsynonymous SNV,KRT9:NM_000226:exon1:c.G137A:p.R46Q,D,.,D,D,N,T
chr17,57272702,57272702,C,T,R007_F,PRR11,Missense_Mutation,NM_018304,exon7,c.C755T,p.S252L,SNP,SNVindel,exonic,PRR11,NA,nonsynonymous SNV,PRR11:NM_018304:exon7:c.C755T:p.S252L,D,N,N,.,D,T
chr17,72860389,72860389,G,A,R007_F,FDXR,Missense_Mutation,NM_001258015,exon8,c.C763T,p.R255C,SNP,SNVindel,exonic,FDXR,NA,nonsynonymous SNV,"FDXR:NM_001258015:exon8:c.C763T:p.R255C,FDXR:NM_001258016:exon8:c.C727T:p.R243C,FDXR:NM_001258012:exon9:c.C1012T:p.R338C,FDXR:NM_001258014:exon9:c.C859T:p.R287C,FDXR:NM_004110:exon9:c.C901T:p.R301C,FDXR:NM_024417:exon9:c.C883T:p.R295C,FDXR:NM_001258013:exon10:c.C976T:p.R326C",D,N,N,T,D,T
chr17,78320524,78320524,C,T,R007_F,RNF213,Missense_Mutation,NM_001256071,exon29,c.C8389T,p.R2797C,SNP,SNVindel,exonic,RNF213,NA,nonsynonymous SNV,RNF213:NM_001256071:exon29:c.C8389T:p.R2797C,D,N,D,T,D,T
chr18,55321229,55321229,C,A,R007_F,ATP8B1,Missense_Mutation,NM_005603,exon24,c.G3010T,p.D1004Y,SNP,SNVindel,exonic,ATP8B1,NA,nonsynonymous SNV,ATP8B1:NM_005603:exon24:c.G3010T:p.D1004Y,D,D,D,D,D,D
chr19,1360299,1360299,G,C,R007_F,PWWP3A,Missense_Mutation,NM_001369792,exon4,c.G175C,p.V59L,SNP,SNVindel,exonic,PWWP3A,NA,nonsynonymous SNV,"PWWP3A:NM_001369792:exon4:c.G175C:p.V59L,PWWP3A:NM_001369793:exon4:c.G10C:p.V4L,PWWP3A:NM_001369789:exon5:c.G379C:p.V127L,PWWP3A:NM_001369790:exon5:c.G379C:p.V127L,PWWP3A:NM_001369794:exon5:c.G379C:p.V127L,PWWP3A:NM_032853:exon5:c.G379C:p.V127L,PWWP3A:NM_001369791:exon6:c.G175C:p.V59L",T,N,N,T,N,T
chr19,3179762,3179762,C,T,R007_F,S1PR4,Silent,NM_003775,exon1,c.C972T,p.C324C,SNP,SNVindel,exonic,S1PR4,NA,synonymous SNV,S1PR4:NM_003775:exon1:c.C972T:p.C324C,NA,NA,NA,NA,NA,NA
chr19,6664993,6664993,G,A,R007_F,TNFSF14,Missense_Mutation,NM_172014,exon4,c.C559T,p.R187C,SNP,SNVindel,exonic,TNFSF14,NA,nonsynonymous SNV,"TNFSF14:NM_172014:exon4:c.C559T:p.R187C,TNFSF14:NM_003807:exon5:c.C667T:p.R223C",.,N,N,T,.,T
chr19,8398970,8398970,G,A,R007_F,KANK3,Silent,NM_198471,exon5,c.C1458T,p.S486S,SNP,SNVindel,exonic,KANK3,NA,synonymous SNV,KANK3:NM_198471:exon5:c.C1458T:p.S486S,NA,NA,NA,NA,NA,NA
chr19,8591398,8591398,C,G,R007_F,MYO1F,Silent,NM_001348355,exon24,c.G2697C,p.V899V,SNP,SNVindel,exonic,MYO1F,NA,synonymous SNV,"MYO1F:NM_001348355:exon24:c.G2697C:p.V899V,MYO1F:NM_012335:exon24:c.G2709C:p.V903V",NA,NA,NA,NA,NA,NA
chr19,8670022,8670022,C,T,R007_F,ADAMTS10,Missense_Mutation,NM_030957,exon4,c.G310A,p.V104M,SNP,SNVindel,exonic,ADAMTS10,NA,nonsynonymous SNV,ADAMTS10:NM_030957:exon4:c.G310A:p.V104M,T,D,D,T,D,T
chr19,47260094,47260094,A,T,R007_F,FKRP,Missense_Mutation,NM_001039885,exon4,c.A1387T,p.N463Y,SNP,SNVindel,exonic,FKRP,NA,nonsynonymous SNV,"FKRP:NM_001039885:exon4:c.A1387T:p.N463Y,FKRP:NM_024301:exon4:c.A1387T:p.N463Y",D,D,D,D,D,D
chr19,57705311,57705311,T,G,R007_F,ZNF264,Silent,NM_003417,exon2,c.T102G,p.A34A,SNP,SNVindel,exonic,ZNF264,NA,synonymous SNV,ZNF264:NM_003417:exon2:c.T102G:p.A34A,NA,NA,NA,NA,NA,NA
chr19,58572969,58572969,G,A,R007_F,ZNF135,Missense_Mutation,NM_001164527,exon2,c.G91A,p.V31M,SNP,SNVindel,exonic,ZNF135,NA,nonsynonymous SNV,"ZNF135:NM_001164527:exon2:c.G91A:p.V31M,ZNF135:NM_001164529:exon2:c.G91A:p.V31M,ZNF135:NM_001164530:exon2:c.G91A:p.V31M,ZNF135:NM_007134:exon2:c.G91A:p.V31M,ZNF135:NM_001289401:exon3:c.G55A:p.V19M,ZNF135:NM_003436:exon3:c.G55A:p.V19M",D,.,D,T,N,T
chr20,644542,644542,A,T,R007_F,SCRT2,Missense_Mutation,NM_033129,exon2,c.T697A,p.S233T,SNP,SNVindel,exonic,SCRT2,NA,nonsynonymous SNV,SCRT2:NM_033129:exon2:c.T697A:p.S233T,T,U,D,T,D,T
chr20,30584921,30584921,C,T,R007_F,XKR7,Silent,NM_001011718,exon3,c.C1401T,p.D467D,SNP,SNVindel,exonic,XKR7,NA,synonymous SNV,XKR7:NM_001011718:exon3:c.C1401T:p.D467D,NA,NA,NA,NA,NA,NA
chr20,42682966,42682966,G,A,R007_F,TOX2,Missense_Mutation,NM_001098796,exon5,c.G553A,p.D185N,SNP,SNVindel,exonic,TOX2,NA,nonsynonymous SNV,"TOX2:NM_001098796:exon5:c.G553A:p.D185N,TOX2:NM_001098797:exon5:c.G679A:p.D227N,TOX2:NM_001098798:exon5:c.G706A:p.D236N,TOX2:NM_032883:exon6:c.G553A:p.D185N",D,N,D,T,D,T
chr20,43930054,43930054,C,T,R007_F,MATN4,Missense_Mutation,NM_003833,exon5,c.G673A,p.G225R,SNP,SNVindel,exonic,MATN4,NA,nonsynonymous SNV,MATN4:NM_003833:exon5:c.G673A:p.G225R,.,D,D,D,D,D
chr20,60990984,60990984,C,T,R007_F,RBBP8NL,Missense_Mutation,NM_080833,exon7,c.G404A,p.R135Q,SNP,SNVindel,exonic,RBBP8NL,NA,nonsynonymous SNV,RBBP8NL:NM_080833:exon7:c.G404A:p.R135Q,T,N,N,T,N,T
chr21,46078007,46078007,C,T,R007_F,KRTAP12-3,Silent,NM_198697,exon1,c.C111T,p.P37P,SNP,SNVindel,exonic,KRTAP12-3,NA,synonymous SNV,KRTAP12-3:NM_198697:exon1:c.C111T:p.P37P,NA,NA,NA,NA,NA,NA
chr22,40140158,40140158,G,T,R007_F,ENTHD1,Silent,NM_152512,exon7,c.C1350A,p.S450S,SNP,SNVindel,exonic,ENTHD1,NA,synonymous SNV,ENTHD1:NM_152512:exon7:c.C1350A:p.S450S,NA,NA,NA,NA,NA,NA
chr22,46785302,46785302,G,A,R007_F,CELSR1,Missense_Mutation,NM_014246,exon18,c.C6440T,p.T2147M,SNP,SNVindel,exonic,CELSR1,NA,nonsynonymous SNV,CELSR1:NM_014246:exon18:c.C6440T:p.T2147M,T,N,N,T,N,T
chr22,51065097,51065097,G,T,R007_F,ARSA,Missense_Mutation,NM_000487,exon4,c.C776A,p.A259D,SNP,SNVindel,exonic,ARSA,NA,nonsynonymous SNV,"ARSA:NM_000487:exon4:c.C776A:p.A259D,ARSA:NM_001085428:exon4:c.C518A:p.A173D,ARSA:NM_001362782:exon4:c.C518A:p.A173D,ARSA:NM_001085425:exon5:c.C776A:p.A259D,ARSA:NM_001085426:exon5:c.C776A:p.A259D,ARSA:NM_001085427:exon5:c.C776A:p.A259D",T,D,N,D,N,D
chrX,3235694,3235694,G,A,R007_F,MXRA5,Missense_Mutation,NM_015419,exon6,c.C6028T,p.L2010F,SNP,SNVindel,exonic,MXRA5,NA,nonsynonymous SNV,MXRA5:NM_015419:exon6:c.C6028T:p.L2010F,D,U,D,D,D,D
chrX,9912897,9912897,G,C,R007_F,SHROOM2,Missense_Mutation,NM_001320663,exon5,c.G1033C,p.A345P,SNP,SNVindel,exonic,SHROOM2,NA,nonsynonymous SNV,"SHROOM2:NM_001320663:exon5:c.G1033C:p.A345P,SHROOM2:NM_001320664:exon5:c.G1030C:p.A344P,SHROOM2:NM_001649:exon9:c.G4528C:p.A1510P",D,D,D,T,D,T
chrX,55172645,55172645,C,G,R007_F,FAM104B,Missense_Mutation,NM_001166699,exon3,c.G223C,p.D75H,SNP,SNVindel,exonic,FAM104B,NA,nonsynonymous SNV,"FAM104B:NM_001166699:exon3:c.G223C:p.D75H,FAM104B:NM_001166700:exon3:c.G223C:p.D75H,FAM104B:NM_001166701:exon3:c.G220C:p.D74H,FAM104B:NM_001166702:exon3:c.G211C:p.D71H,FAM104B:NM_001166703:exon3:c.G217C:p.D73H,FAM104B:NM_138362:exon3:c.G220C:p.D74H",T,U,N,T,N,T
chrX,102842229,102842229,T,C,R007_F,TCEAL4,Missense_Mutation,NM_001305841,exon2,c.T626C,p.I209T,SNP,SNVindel,exonic,TCEAL4,NA,nonsynonymous SNV,"TCEAL4:NM_001305841:exon2:c.T626C:p.I209T,TCEAL4:NM_001006935:exon3:c.T626C:p.I209T,TCEAL4:NM_001006937:exon3:c.T626C:p.I209T,TCEAL4:NM_001305842:exon3:c.T626C:p.I209T,TCEAL4:NM_024863:exon3:c.T626C:p.I209T,TCEAL4:NM_001305840:exon4:c.T626C:p.I209T,TCEAL4:NM_001300901:exon5:c.T1055C:p.I352T",T,N,N,T,N,T
chr1,1266906,1266906,G,A,R007_S,TAS1R3,Missense_Mutation,NM_152228,exon1,c.G181A,p.V61M,SNP,SNVindel,exonic,TAS1R3,NA,nonsynonymous SNV,TAS1R3:NM_152228:exon1:c.G181A:p.V61M,T,N,N,D,N,T
chr1,1696763,1696763,C,T,R007_S,NADK,Missense_Mutation,NM_001198993,exon2,c.G83A,p.G28D,SNP,SNVindel,exonic,NADK,NA,nonsynonymous SNV,"NADK:NM_001198993:exon2:c.G83A:p.G28D,NADK:NM_001198994:exon2:c.G83A:p.G28D,NADK:NM_001353641:exon2:c.G83A:p.G28D,NADK:NM_023018:exon2:c.G83A:p.G28D",T,D,N,T,N,T
chr1,1896392,1896392,C,T,R007_S,CFAP74,Missense_Mutation,NM_001304360,exon13,c.G1510A,p.V504M,SNP,SNVindel,exonic,CFAP74,NA,nonsynonymous SNV,CFAP74:NM_001304360:exon13:c.G1510A:p.V504M,.,N,N,.,.,T
chr1,1896488,1896488,C,T,R007_S,CFAP74,Missense_Mutation,NM_001304360,exon13,c.G1414A,p.D472N,SNP,SNVindel,exonic,CFAP74,NA,nonsynonymous SNV,CFAP74:NM_001304360:exon13:c.G1414A:p.D472N,.,N,N,.,.,T
chr1,1903422,1903422,G,A,R007_S,CFAP74,Silent,NM_001304360,exon9,c.C885T,p.N295N,SNP,SNVindel,exonic,CFAP74,NA,synonymous SNV,CFAP74:NM_001304360:exon9:c.C885T:p.N295N,NA,NA,NA,NA,NA,NA
chr1,1905469,1905469,C,T,R007_S,CFAP74,Silent,NM_001304360,exon7,c.G669A,p.R223R,SNP,SNVindel,exonic,CFAP74,NA,synonymous SNV,CFAP74:NM_001304360:exon7:c.G669A:p.R223R,NA,NA,NA,NA,NA,NA
chr1,1916892,1916892,G,A,R007_S,CFAP74,Silent,NM_001304360,exon6,c.C433T,p.L145L,SNP,SNVindel,exonic,CFAP74,NA,synonymous SNV,CFAP74:NM_001304360:exon6:c.C433T:p.L145L,NA,NA,NA,NA,NA,NA
chr1,2125492,2125492,C,T,R007_S,FAAP20,Missense_Mutation,NM_001256946,exon2,c.G143A,p.S48N,SNP,SNVindel,exonic,FAAP20,NA,nonsynonymous SNV,"FAAP20:NM_001256946:exon2:c.G143A:p.S48N,FAAP20:NM_001282673:exon2:c.G143A:p.S48N,FAAP20:NM_182533:exon2:c.G143A:p.S48N,FAAP20:NM_001282670:exon6:c.G452A:p.S151N",T,N,N,T,N,T
chr1,2268183,2268183,G,A,R007_S,MORN1,Silent,NM_024848,exon11,c.C1143T,p.P381P,SNP,SNVindel,exonic,MORN1,NA,synonymous SNV,MORN1:NM_024848:exon11:c.C1143T:p.P381P,NA,NA,NA,NA,NA,NA
chr1,2416052,2416052,C,T,R007_S,PLCH2,Nonsense_Mutation,NM_001303012,exon5,c.C730T,p.Q244X,SNP,SNVindel,exonic,PLCH2,NA,stopgain,"PLCH2:NM_001303012:exon5:c.C730T:p.Q244X,PLCH2:NM_001303013:exon5:c.C871T:p.Q291X,PLCH2:NM_014638:exon5:c.C811T:p.Q271X",.,D,A,.,.,.
chr1,2493220,2493220,C,T,R007_S,TNFRSF14,Silent,NM_003820,exon6,c.C660T,p.G220G,SNP,SNVindel,exonic,TNFRSF14,NA,synonymous SNV,TNFRSF14:NM_003820:exon6:c.C660T:p.G220G,NA,NA,NA,NA,NA,NA
chr1,3379764,3379764,G,A,R007_S,ARHGEF16,Missense_Mutation,NM_014448,exon2,c.G116A,p.R39H,SNP,SNVindel,exonic,ARHGEF16,NA,nonsynonymous SNV,ARHGEF16:NM_014448:exon2:c.G116A:p.R39H,D,N,N,T,N,T
chr1,3386035,3386035,G,A,R007_S,ARHGEF16,Silent,NM_014448,exon6,c.G900A,p.Q300Q,SNP,SNVindel,exonic,ARHGEF16,NA,synonymous SNV,ARHGEF16:NM_014448:exon6:c.G900A:p.Q300Q,NA,NA,NA,NA,NA,NA
chr1,3698100,3698100,C,A,R007_S,LRRC47,Missense_Mutation,NM_020710,exon6,c.G1479T,p.K493N,SNP,SNVindel,exonic,LRRC47,NA,nonsynonymous SNV,LRRC47:NM_020710:exon6:c.G1479T:p.K493N,D,D,D,T,D,T
chr1,3807287,3807287,C,T,R007_S,C1orf174,Missense_Mutation,NM_207356,exon3,c.G464A,p.S155N,SNP,SNVindel,exonic,C1orf174,NA,nonsynonymous SNV,C1orf174:NM_207356:exon3:c.G464A:p.S155N,T,N,N,T,N,T
chr1,3807407,3807407,C,T,R007_S,C1orf174,Missense_Mutation,NM_207356,exon3,c.G344A,p.G115E,SNP,SNVindel,exonic,C1orf174,NA,nonsynonymous SNV,C1orf174:NM_207356:exon3:c.G344A:p.G115E,T,N,N,T,N,T
chr1,5951052,5951052,G,A,R007_S,NPHP4,Missense_Mutation,NM_001291594,exon13,c.C644T,p.P215L,SNP,SNVindel,exonic,NPHP4,NA,nonsynonymous SNV,"NPHP4:NM_001291594:exon13:c.C644T:p.P215L,NPHP4:NM_001291593:exon14:c.C641T:p.P214L,NPHP4:NM_015102:exon17:c.C2180T:p.P727L",D,N,D,D,D,D
chr1,5993259,5993259,G,A,R007_S,NPHP4,Missense_Mutation,NM_015102,exon10,c.C1250T,p.P417L,SNP,SNVindel,exonic,NPHP4,NA,nonsynonymous SNV,NPHP4:NM_015102:exon10:c.C1250T:p.P417L,D,D,D,D,D,D
chr1,6155503,6155503,G,A,R007_S,KCNAB2,Missense_Mutation,NM_001199863,exon10,c.G508A,p.G170R,SNP,SNVindel,exonic,KCNAB2,NA,nonsynonymous SNV,"KCNAB2:NM_001199863:exon10:c.G508A:p.G170R,KCNAB2:NM_172130:exon11:c.G667A:p.G223R,KCNAB2:NM_001199860:exon12:c.G709A:p.G237R,KCNAB2:NM_001199861:exon12:c.G709A:p.G237R,KCNAB2:NM_001199862:exon12:c.G853A:p.G285R,KCNAB2:NM_003636:exon12:c.G709A:p.G237R",D,D,D,T,D,D
chr1,6270466,6270466,G,A,R007_S,RNF207,Missense_Mutation,NM_207396,exon10,c.G910A,p.A304T,SNP,SNVindel,exonic,RNF207,NA,nonsynonymous SNV,RNF207:NM_207396:exon10:c.G910A:p.A304T,D,U,D,T,D,T
chr1,6285291,6285291,C,T,R007_S,ICMT,Missense_Mutation,NM_012405,exon5,c.G704A,p.S235N,SNP,SNVindel,exonic,ICMT,NA,nonsynonymous SNV,ICMT:NM_012405:exon5:c.G704A:p.S235N,D,N,N,.,N,T
chr1,6314746,6314746,G,A,R007_S,GPR153,Missense_Mutation,NM_207370,exon2,c.C220T,p.P74S,SNP,SNVindel,exonic,GPR153,NA,nonsynonymous SNV,GPR153:NM_207370:exon2:c.C220T:p.P74S,T,N,D,T,N,T
chr1,7724153,7724153,C,T,R007_S,CAMTA1,Missense_Mutation,NM_001349608,exon8,c.C1456T,p.P486S,SNP,SNVindel,exonic,CAMTA1,NA,nonsynonymous SNV,"CAMTA1:NM_001349608:exon8:c.C1456T:p.P486S,CAMTA1:NM_001349612:exon8:c.C1456T:p.P486S,CAMTA1:NM_001349609:exon9:c.C1546T:p.P516S,CAMTA1:NM_001349610:exon9:c.C1546T:p.P516S,CAMTA1:NM_015215:exon9:c.C1546T:p.P516S",T,D,D,T,D,T
chr1,7724480,7724480,C,T,R007_S,CAMTA1,Missense_Mutation,NM_001349608,exon8,c.C1783T,p.L595F,SNP,SNVindel,exonic,CAMTA1,NA,nonsynonymous SNV,"CAMTA1:NM_001349608:exon8:c.C1783T:p.L595F,CAMTA1:NM_001349612:exon8:c.C1783T:p.L595F,CAMTA1:NM_001349609:exon9:c.C1873T:p.L625F,CAMTA1:NM_001349610:exon9:c.C1873T:p.L625F,CAMTA1:NM_015215:exon9:c.C1873T:p.L625F",T,N,N,T,N,T
chr1,7806045,7806045,G,A,R007_S,CAMTA1,Missense_Mutation,NM_001349613,exon8,c.G1640A,p.S547N,SNP,SNVindel,exonic,CAMTA1,NA,nonsynonymous SNV,"CAMTA1:NM_001349613:exon8:c.G1640A:p.S547N,CAMTA1:NM_001349615:exon8:c.G1583A:p.S528N,CAMTA1:NM_001349616:exon8:c.G1583A:p.S528N,CAMTA1:NM_001349618:exon8:c.G1583A:p.S528N,CAMTA1:NM_001349619:exon8:c.G1244A:p.S415N,CAMTA1:NM_001349622:exon8:c.G1244A:p.S415N,CAMTA1:NM_001349624:exon8:c.G1244A:p.S415N,CAMTA1:NM_001349626:exon8:c.G1244A:p.S415N,CAMTA1:NM_001349614:exon10:c.G1583A:p.S528N,CAMTA1:NM_001349617:exon10:c.G1583A:p.S528N,CAMTA1:NM_001349620:exon10:c.G1244A:p.S415N,CAMTA1:NM_001349621:exon10:c.G1244A:p.S415N,CAMTA1:NM_001349623:exon10:c.G1244A:p.S415N,CAMTA1:NM_001349625:exon10:c.G1244A:p.S415N,CAMTA1:NM_001349608:exon17:c.G4421A:p.S1474N,CAMTA1:NM_001349612:exon17:c.G4082A:p.S1361N,CAMTA1:NM_001349609:exon18:c.G4172A:p.S1391N,CAMTA1:NM_001349610:exon18:c.G4172A:p.S1391N,CAMTA1:NM_015215:exon18:c.G4511A:p.S1504N",T,D,D,T,N,T
chr1,7913389,7913389,G,A,R007_S,UTS2,Missense_Mutation,NM_021995,exon1,c.C103T,p.P35S,SNP,SNVindel,exonic,UTS2,NA,nonsynonymous SNV,UTS2:NM_021995:exon1:c.C103T:p.P35S,T,.,N,T,D,T
chr1,9188856,9188856,C,T,R007_S,GPR157,Nonsense_Mutation,NM_024980,exon1,c.G231A,p.W77X,SNP,SNVindel,exonic,GPR157,NA,stopgain,GPR157:NM_024980:exon1:c.G231A:p.W77X,.,D,A,.,.,.
chr1,9791906,9791906,C,T,R007_S,CLSTN1,Missense_Mutation,NM_001302883,exon16,c.G2419A,p.A807T,SNP,SNVindel,exonic,CLSTN1,NA,nonsynonymous SNV,"CLSTN1:NM_001302883:exon16:c.G2419A:p.A807T,CLSTN1:NM_014944:exon16:c.G2446A:p.A816T,CLSTN1:NM_001009566:exon17:c.G2476A:p.A826T",T,D,D,T,N,T
chr1,10478940,10478940,C,T,R007_S,PGD,Silent,NM_001304451,exon10,c.C1101T,p.L367L,SNP,SNVindel,exonic,PGD,NA,synonymous SNV,"PGD:NM_001304451:exon10:c.C1101T:p.L367L,PGD:NM_001304452:exon11:c.C1128T:p.L376L,PGD:NM_002631:exon11:c.C1167T:p.L389L",NA,NA,NA,NA,NA,NA
chr1,10699542,10699542,G,A,R007_S,CASZ1,Silent,NM_001079843,exon21,c.C4737T,p.R1579R,SNP,SNVindel,exonic,CASZ1,NA,synonymous SNV,CASZ1:NM_001079843:exon21:c.C4737T:p.R1579R,NA,NA,NA,NA,NA,NA
chr1,11826641,11826641,G,A,R007_S,C1orf167,Silent,NM_001010881,exon3,c.G798A,p.V266V,SNP,SNVindel,exonic,C1orf167,NA,synonymous SNV,C1orf167:NM_001010881:exon3:c.G798A:p.V266V,NA,NA,NA,NA,NA,NA
chr1,12343035,12343035,G,A,R007_S,VPS13D,Missense_Mutation,NM_015378,exon21,c.G4876A,p.E1626K,SNP,SNVindel,exonic,VPS13D,NA,nonsynonymous SNV,"VPS13D:NM_015378:exon21:c.G4876A:p.E1626K,VPS13D:NM_018156:exon21:c.G4876A:p.E1626K",.,D,D,.,.,T
chr1,12401859,12401859,C,T,R007_S,VPS13D,Silent,NM_018156,exon40,c.C8574T,p.R2858R,SNP,SNVindel,exonic,VPS13D,NA,synonymous SNV,"VPS13D:NM_018156:exon40:c.C8574T:p.R2858R,VPS13D:NM_015378:exon41:c.C8649T:p.R2883R",NA,NA,NA,NA,NA,NA
chr1,12726381,12726381,C,T,R007_S,AADACL4,Missense_Mutation,NM_001013630,exon4,c.C859T,p.P287S,SNP,SNVindel,exonic,AADACL4,NA,nonsynonymous SNV,AADACL4:NM_001013630:exon4:c.C859T:p.P287S,T,N,N,T,N,T
chr1,13802518,13802518,G,A,R007_S,LRRC38,Silent,NM_001010847,exon2,c.C681T,p.S227S,SNP,SNVindel,exonic,LRRC38,NA,synonymous SNV,LRRC38:NM_001010847:exon2:c.C681T:p.S227S,NA,NA,NA,NA,NA,NA
chr1,13839840,13839840,G,A,R007_S,LRRC38,Silent,NM_001010847,exon1,c.C249T,p.V83V,SNP,SNVindel,exonic,LRRC38,NA,synonymous SNV,LRRC38:NM_001010847:exon1:c.C249T:p.V83V,NA,NA,NA,NA,NA,NA
chr1,15361292,15361292,G,A,R007_S,KAZN,Missense_Mutation,NM_001017999,exon3,c.G184A,p.V62M,SNP,SNVindel,exonic,KAZN,NA,nonsynonymous SNV,"KAZN:NM_001017999:exon3:c.G184A:p.V62M,KAZN:NM_001018000:exon3:c.G448A:p.V150M,KAZN:NM_001018001:exon3:c.G184A:p.V62M,KAZN:NM_001370229:exon3:c.G439A:p.V147M,KAZN:NM_001370230:exon3:c.G271A:p.V91M,KAZN:NM_015209:exon3:c.G466A:p.V156M,KAZN:NM_201628:exon3:c.G466A:p.V156M,KAZN:NM_001370231:exon4:c.G463A:p.V155M",D,D,D,T,N,T
chr1,15386701,15386701,C,T,R007_S,KAZN,Missense_Mutation,NM_001017999,exon6,c.C668T,p.P223L,SNP,SNVindel,exonic,KAZN,NA,nonsynonymous SNV,"KAZN:NM_001017999:exon6:c.C668T:p.P223L,KAZN:NM_001018000:exon6:c.C932T:p.P311L,KAZN:NM_001018001:exon6:c.C668T:p.P223L,KAZN:NM_001370229:exon6:c.C923T:p.P308L,KAZN:NM_001370230:exon6:c.C755T:p.P252L,KAZN:NM_015209:exon6:c.C950T:p.P317L,KAZN:NM_201628:exon6:c.C950T:p.P317L,KAZN:NM_001370231:exon7:c.C947T:p.P316L",D,D,D,T,D,T
chr1,15390077,15390077,C,T,R007_S,KAZN,Missense_Mutation,NM_001017999,exon7,c.C775T,p.P259S,SNP,SNVindel,exonic,KAZN,NA,nonsynonymous SNV,"KAZN:NM_001017999:exon7:c.C775T:p.P259S,KAZN:NM_001018000:exon7:c.C1039T:p.P347S,KAZN:NM_001018001:exon7:c.C775T:p.P259S,KAZN:NM_001370229:exon7:c.C1030T:p.P344S,KAZN:NM_001370230:exon7:c.C857T:p.S286F,KAZN:NM_015209:exon7:c.C1057T:p.P353S,KAZN:NM_201628:exon7:c.C1057T:p.P353S,KAZN:NM_001370231:exon8:c.C1054T:p.P352S",T,.,D,T,N,T
chr1,15901294,15901294,C,T,R007_S,AGMAT,Missense_Mutation,NM_024758,exon6,c.G943A,p.G315S,SNP,SNVindel,exonic,AGMAT,NA,nonsynonymous SNV,AGMAT:NM_024758:exon6:c.G943A:p.G315S,D,D,D,D,D,D
chr1,15987336,15987336,G,A,R007_S,RSC1A1,Missense_Mutation,NM_006511,exon1,c.G973A,p.E325K,SNP,SNVindel,exonic,RSC1A1,NA,nonsynonymous SNV,RSC1A1:NM_006511:exon1:c.G973A:p.E325K,T,N,N,T,N,T
chr1,16064606,16064606,G,A,R007_S,SLC25A34,Missense_Mutation,NM_207348,exon3,c.G463A,p.E155K,SNP,SNVindel,exonic,SLC25A34,NA,nonsynonymous SNV,SLC25A34:NM_207348:exon3:c.G463A:p.E155K,T,N,D,T,N,T
chr1,16111047,16111047,G,A,R007_S,FBLIM1,Missense_Mutation,NM_001024216,exon7,c.G722A,p.C241Y,SNP,SNVindel,exonic,FBLIM1,NA,nonsynonymous SNV,"FBLIM1:NM_001024216:exon7:c.G722A:p.C241Y,FBLIM1:NM_017556:exon9:c.G1013A:p.C338Y,FBLIM1:NM_001350151:exon10:c.G1013A:p.C338Y",D,D,D,D,D,D
chr1,16133937,16133937,C,T,R007_S,UQCRHL,Missense_Mutation,NM_001089591,exon1,c.G208A,p.E70K,SNP,SNVindel,exonic,UQCRHL,NA,nonsynonymous SNV,UQCRHL:NM_001089591:exon1:c.G208A:p.E70K,.,.,.,.,.,.
chr1,16271542,16271542,C,T,R007_S,ZBTB17,Missense_Mutation,NM_001242884,exon6,c.G571A,p.G191S,SNP,SNVindel,exonic,ZBTB17,NA,nonsynonymous SNV,"ZBTB17:NM_001242884:exon6:c.G571A:p.G191S,ZBTB17:NM_001324137:exon6:c.G589A:p.G197S,ZBTB17:NM_001324138:exon6:c.G628A:p.G210S,ZBTB17:NM_001287603:exon7:c.G817A:p.G273S,ZBTB17:NM_001287604:exon7:c.G589A:p.G197S,ZBTB17:NM_003443:exon7:c.G817A:p.G273S",T,N,N,T,N,T
chr1,16332417,16332417,G,A,R007_S,SRARP,Missense_Mutation,NM_178840,exon2,c.G86A,p.G29E,SNP,SNVindel,exonic,SRARP,NA,nonsynonymous SNV,SRARP:NM_178840:exon2:c.G86A:p.G29E,T,N,N,T,D,T
chr1,16460380,16460380,C,T,R007_S,EPHA2,Silent,NM_001329090,exon8,c.G1551A,p.P517P,SNP,SNVindel,exonic,EPHA2,NA,synonymous SNV,"EPHA2:NM_001329090:exon8:c.G1551A:p.P517P,EPHA2:NM_004431:exon9:c.G1713A:p.P571P",NA,NA,NA,NA,NA,NA
chr1,16730232,16730232,C,T,R007_S,SPATA21,Missense_Mutation,NM_001353349,exon8,c.G922A,p.E308K,SNP,SNVindel,exonic,SPATA21,NA,nonsynonymous SNV,"SPATA21:NM_001353349:exon8:c.G922A:p.E308K,SPATA21:NM_198546:exon10:c.G991A:p.E331K",D,N,N,T,D,D
chr1,16748448,16748448,G,A,R007_S,SPATA21,Missense_Mutation,NM_198546,exon4,c.C53T,p.P18L,SNP,SNVindel,exonic,SPATA21,NA,nonsynonymous SNV,SPATA21:NM_198546:exon4:c.C53T:p.P18L,T,N,N,T,N,T
chr1,17322624,17322624,G,A,R007_S,ATP13A2,Silent,NM_001141973,exon15,c.C1374T,p.D458D,SNP,SNVindel,exonic,ATP13A2,NA,synonymous SNV,"ATP13A2:NM_001141973:exon15:c.C1374T:p.D458D,ATP13A2:NM_001141974:exon15:c.C1374T:p.D458D,ATP13A2:NM_022089:exon15:c.C1389T:p.D463D",NA,NA,NA,NA,NA,NA
chr1,17682570,17682570,C,T,R007_S,PADI4,Missense_Mutation,NM_012387,exon12,c.C1403T,p.S468F,SNP,SNVindel,exonic,PADI4,NA,nonsynonymous SNV,PADI4:NM_012387:exon12:c.C1403T:p.S468F,T,N,N,T,N,T
chr1,18023581,18023581,C,T,R007_S,ARHGEF10L,Silent,NM_001319838,exon18,c.C2655T,p.H885H,SNP,SNVindel,exonic,ARHGEF10L,NA,synonymous SNV,"ARHGEF10L:NM_001319838:exon18:c.C2655T:p.H885H,ARHGEF10L:NM_001328124:exon21:c.C2880T:p.H960H,ARHGEF10L:NM_001319837:exon26:c.C3414T:p.H1138H,ARHGEF10L:NM_001011722:exon27:c.C3429T:p.H1143H,ARHGEF10L:NM_018125:exon29:c.C3546T:p.H1182H",NA,NA,NA,NA,NA,NA
chr1,19175976,19175976,C,T,R007_S,TAS1R2,Silent,NM_152232,exon4,c.G1326A,p.G442G,SNP,SNVindel,exonic,TAS1R2,NA,synonymous SNV,TAS1R2:NM_152232:exon4:c.G1326A:p.G442G,NA,NA,NA,NA,NA,NA
chr1,19490321,19490321,G,A,R007_S,UBR4,Silent,NM_020765,exon34,c.C4701T,p.C1567C,SNP,SNVindel,exonic,UBR4,NA,synonymous SNV,UBR4:NM_020765:exon34:c.C4701T:p.C1567C,NA,NA,NA,NA,NA,NA
chr1,19810735,19810735,G,A,R007_S,CAPZB,Silent,NM_001282162,exon1,c.C39T,p.N13N,SNP,SNVindel,exonic,CAPZB,NA,synonymous SNV,CAPZB:NM_001282162:exon1:c.C39T:p.N13N,NA,NA,NA,NA,NA,NA
chr1,19810760,19810760,C,T,R007_S,CAPZB,Missense_Mutation,NM_001282162,exon1,c.G14A,p.R5K,SNP,SNVindel,exonic,CAPZB,NA,nonsynonymous SNV,CAPZB:NM_001282162:exon1:c.G14A:p.R5K,T,N,D,.,N,T
chr1,20412581,20412581,C,T,R007_S,PLA2G5,Missense_Mutation,NM_000929,exon3,c.C46T,p.P16S,SNP,SNVindel,exonic,PLA2G5,NA,nonsynonymous SNV,PLA2G5:NM_000929:exon3:c.C46T:p.P16S,T,N,N,T,N,T
chr1,20645088,20645088,G,A,R007_S,VWA5B1,Missense_Mutation,NM_001039500,exon6,c.G715A,p.E239K,SNP,SNVindel,exonic,VWA5B1,NA,nonsynonymous SNV,VWA5B1:NM_001039500:exon6:c.G715A:p.E239K,D,D,D,T,D,T
chr1,21137359,21137359,C,T,R007_S,EIF4G3,Missense_Mutation,NM_003760,exon31,c.G4448A,p.R1483K,SNP,SNVindel,exonic,EIF4G3,NA,nonsynonymous SNV,"EIF4G3:NM_003760:exon31:c.G4448A:p.R1483K,EIF4G3:NM_001198801:exon34:c.G4556A:p.R1519K,EIF4G3:NM_001198802:exon34:c.G4466A:p.R1489K",T,D,D,T,N,T
chr1,22142479,22142479,C,T,R007_S,LDLRAD2,Silent,NM_001013693,exon3,c.C555T,p.I185I,SNP,SNVindel,exonic,LDLRAD2,NA,synonymous SNV,LDLRAD2:NM_001013693:exon3:c.C555T:p.I185I,NA,NA,NA,NA,NA,NA
chr1,22142491,22142491,C,T,R007_S,LDLRAD2,Silent,NM_001013693,exon3,c.C567T,p.L189L,SNP,SNVindel,exonic,LDLRAD2,NA,synonymous SNV,LDLRAD2:NM_001013693:exon3:c.C567T:p.L189L,NA,NA,NA,NA,NA,NA
chr1,22838572,22838572,G,A,R007_S,ZBTB40,Silent,NM_001330398,exon9,c.G2070A,p.K690K,SNP,SNVindel,exonic,ZBTB40,NA,synonymous SNV,"ZBTB40:NM_001330398:exon9:c.G2070A:p.K690K,ZBTB40:NM_014870:exon11:c.G2406A:p.K802K,ZBTB40:NM_001083621:exon12:c.G2406A:p.K802K",NA,NA,NA,NA,NA,NA
chr1,22843876,22843876,G,A,R007_S,ZBTB40,Missense_Mutation,NM_001330398,exon11,c.G2416A,p.D806N,SNP,SNVindel,exonic,ZBTB40,NA,nonsynonymous SNV,"ZBTB40:NM_001330398:exon11:c.G2416A:p.D806N,ZBTB40:NM_014870:exon13:c.G2752A:p.D918N,ZBTB40:NM_001083621:exon14:c.G2752A:p.D918N",D,D,D,T,D,T
chr1,22927409,22927409,G,A,R007_S,EPHA8,Missense_Mutation,NM_020526,exon15,c.G2557A,p.E853K,SNP,SNVindel,exonic,EPHA8,NA,nonsynonymous SNV,EPHA8:NM_020526:exon15:c.G2557A:p.E853K,D,D,D,D,D,T
chr1,22965609,22965609,C,T,R007_S,C1QA,Silent,NM_001347465,exon3,c.C447T,p.G149G,SNP,SNVindel,exonic,C1QA,NA,synonymous SNV,"C1QA:NM_001347465:exon3:c.C447T:p.G149G,C1QA:NM_001347466:exon3:c.C447T:p.G149G,C1QA:NM_015991:exon3:c.C447T:p.G149G",NA,NA,NA,NA,NA,NA
chr1,23191650,23191650,C,T,R007_S,EPHB2,Silent,NM_001309192,exon5,c.C1248T,p.D416D,SNP,SNVindel,exonic,EPHB2,NA,synonymous SNV,"EPHB2:NM_001309192:exon5:c.C1248T:p.D416D,EPHB2:NM_001309193:exon5:c.C1248T:p.D416D,EPHB2:NM_004442:exon5:c.C1248T:p.D416D,EPHB2:NM_017449:exon5:c.C1248T:p.D416D",NA,NA,NA,NA,NA,NA
chr1,23420300,23420300,G,A,R007_S,LUZP1,Missense_Mutation,NM_001142546,exon3,c.C455T,p.S152F,SNP,SNVindel,exonic,LUZP1,NA,nonsynonymous SNV,"LUZP1:NM_001142546:exon3:c.C455T:p.S152F,LUZP1:NM_033631:exon4:c.C455T:p.S152F",D,D,D,T,D,T
chr1,23763659,23763659,G,A,R007_S,ASAP3,Missense_Mutation,NM_001143778,exon13,c.C1279T,p.P427S,SNP,SNVindel,exonic,ASAP3,NA,nonsynonymous SNV,"ASAP3:NM_001143778:exon13:c.C1279T:p.P427S,ASAP3:NM_017707:exon14:c.C1306T:p.P436S",D,D,D,T,D,T
chr1,24022295,24022295,G,A,R007_S,RPL11,Missense_Mutation,NM_000975,exon5,c.G404A,p.G135D,SNP,SNVindel,exonic,RPL11,NA,nonsynonymous SNV,"RPL11:NM_000975:exon5:c.G404A:p.G135D,RPL11:NM_001199802:exon5:c.G401A:p.G134D",T,D,D,T,D,T
chr1,24123409,24123409,G,A,R007_S,GALE,Silent,NM_001127621,exon7,c.C666T,p.A222A,SNP,SNVindel,exonic,GALE,NA,synonymous SNV,"GALE:NM_001127621:exon7:c.C666T:p.A222A,GALE:NM_000403:exon8:c.C666T:p.A222A,GALE:NM_001008216:exon8:c.C666T:p.A222A",NA,NA,NA,NA,NA,NA
chr1,24130899,24130899,G,A,R007_S,HMGCL,Silent,NM_001166059,exon6,c.C654T,p.G218G,SNP,SNVindel,exonic,HMGCL,NA,synonymous SNV,"HMGCL:NM_001166059:exon6:c.C654T:p.G218G,HMGCL:NM_000191:exon8:c.C867T:p.G289G",NA,NA,NA,NA,NA,NA
chr1,24448104,24448104,C,T,R007_S,IL22RA1,Missense_Mutation,NM_021258,exon7,c.G916A,p.V306M,SNP,SNVindel,exonic,IL22RA1,NA,nonsynonymous SNV,IL22RA1:NM_021258:exon7:c.G916A:p.V306M,D,N,N,T,N,T
chr1,24488098,24488098,G,A,R007_S,IFNLR1,Silent,NM_170743,exon4,c.C444T,p.P148P,SNP,SNVindel,exonic,IFNLR1,NA,synonymous SNV,"IFNLR1:NM_170743:exon4:c.C444T:p.P148P,IFNLR1:NM_173064:exon4:c.C444T:p.P148P,IFNLR1:NM_173065:exon4:c.C444T:p.P148P",NA,NA,NA,NA,NA,NA
chr1,24727851,24727851,G,A,R007_S,STPG1,Missense_Mutation,NM_001199012,exon2,c.C28T,p.R10C,SNP,SNVindel,exonic,STPG1,NA,nonsynonymous SNV,"STPG1:NM_001199012:exon2:c.C28T:p.R10C,STPG1:NM_001199013:exon2:c.C28T:p.R10C",T,N,N,.,N,T
chr1,24932156,24932156,C,T,R007_S,NCMAP,Missense_Mutation,NM_001010980,exon4,c.C227T,p.A76V,SNP,SNVindel,exonic,NCMAP,NA,nonsynonymous SNV,NCMAP:NM_001010980:exon4:c.C227T:p.A76V,D,N,N,.,N,T
chr1,26361698,26361698,G,A,R007_S,EXTL1,Missense_Mutation,NM_004455,exon11,c.G1891A,p.A631T,SNP,SNVindel,exonic,EXTL1,NA,nonsynonymous SNV,EXTL1:NM_004455:exon11:c.G1891A:p.A631T,T,N,N,D,N,T
chr1,27057693,27057693,G,A,R007_S,ARID1A,Silent,NM_006015,exon3,c.G1401A,p.Q467Q,SNP,SNVindel,exonic,ARID1A,NA,synonymous SNV,"ARID1A:NM_006015:exon3:c.G1401A:p.Q467Q,ARID1A:NM_139135:exon3:c.G1401A:p.Q467Q",NA,NA,NA,NA,NA,NA
chr1,27087381,27087381,G,A,R007_S,ARID1A,Missense_Mutation,NM_006015,exon5,c.G1955A,p.G652E,SNP,SNVindel,exonic,ARID1A,NA,nonsynonymous SNV,"ARID1A:NM_006015:exon5:c.G1955A:p.G652E,ARID1A:NM_139135:exon5:c.G1955A:p.G652E",D,D,D,T,D,T
chr1,27089498,27089498,G,A,R007_S,ARID1A,Silent,NM_006015,exon8,c.G2454A,p.L818L,SNP,SNVindel,exonic,ARID1A,NA,synonymous SNV,"ARID1A:NM_006015:exon8:c.G2454A:p.L818L,ARID1A:NM_139135:exon8:c.G2454A:p.L818L",NA,NA,NA,NA,NA,NA
chr1,27105755,27105755,C,T,R007_S,ARID1A,Missense_Mutation,NM_006015,exon20,c.C5366T,p.A1789V,SNP,SNVindel,exonic,ARID1A,NA,nonsynonymous SNV,"ARID1A:NM_006015:exon20:c.C5366T:p.A1789V,ARID1A:NM_139135:exon20:c.C4715T:p.A1572V",T,N,D,T,N,T
chr1,27440344,27440344,C,T,R007_S,SLC9A1,Silent,NM_003047,exon2,c.G786A,p.E262E,SNP,SNVindel,exonic,SLC9A1,NA,synonymous SNV,SLC9A1:NM_003047:exon2:c.G786A:p.E262E,NA,NA,NA,NA,NA,NA
chr1,27660679,27660679,C,T,R007_S,TMEM222,Missense_Mutation,NM_032125,exon5,c.C446T,p.A149V,SNP,SNVindel,exonic,TMEM222,NA,nonsynonymous SNV,TMEM222:NM_032125:exon5:c.C446T:p.A149V,T,D,D,.,D,D
chr1,27877125,27877125,C,T,R007_S,AHDC1,Missense_Mutation,NM_001029882,exon6,c.G1502A,p.S501N,SNP,SNVindel,exonic,AHDC1,NA,nonsynonymous SNV,AHDC1:NM_001029882:exon6:c.G1502A:p.S501N,T,U,N,T,N,T
chr1,27939590,27939590,G,A,R007_S,FGR,Silent,NM_001042729,exon13,c.C1425T,p.Y475Y,SNP,SNVindel,exonic,FGR,NA,synonymous SNV,"FGR:NM_001042729:exon13:c.C1425T:p.Y475Y,FGR:NM_001042747:exon13:c.C1425T:p.Y475Y,FGR:NM_005248:exon13:c.C1425T:p.Y475Y",NA,NA,NA,NA,NA,NA
chr1,27950267,27950267,C,T,R007_S,FGR,Missense_Mutation,NM_001042729,exon3,c.G161A,p.S54N,SNP,SNVindel,exonic,FGR,NA,nonsynonymous SNV,"FGR:NM_001042729:exon3:c.G161A:p.S54N,FGR:NM_001042747:exon3:c.G161A:p.S54N,FGR:NM_005248:exon3:c.G161A:p.S54N",T,N,N,T,N,T
chr1,28285015,28285015,G,A,R007_S,SMPDL3B,Missense_Mutation,NM_001304579,exon8,c.G416A,p.S139N,SNP,SNVindel,exonic,SMPDL3B,NA,nonsynonymous SNV,"SMPDL3B:NM_001304579:exon8:c.G416A:p.S139N,SMPDL3B:NM_014474:exon8:c.G1034A:p.S345N",D,D,N,D,N,T
chr1,29391515,29391515,G,A,R007_S,EPB41,Missense_Mutation,NM_203343,exon12,c.G1762A,p.E588K,SNP,SNVindel,exonic,EPB41,NA,nonsynonymous SNV,"EPB41:NM_203343:exon12:c.G1762A:p.E588K,EPB41:NM_001166007:exon13:c.G1240A:p.E414K,EPB41:NM_001166006:exon15:c.G1987A:p.E663K,EPB41:NM_004437:exon15:c.G1303A:p.E435K,EPB41:NM_001166005:exon16:c.G2029A:p.E677K,EPB41:NM_203342:exon16:c.G1360A:p.E454K",D,D,D,D,N,D
chr1,31907037,31907037,C,T,R007_S,SERINC2,Silent,NM_001199037,exon10,c.C1371T,p.D457D,SNP,SNVindel,exonic,SERINC2,NA,synonymous SNV,"SERINC2:NM_001199037:exon10:c.C1371T:p.D457D,SERINC2:NM_018565:exon10:c.C1371T:p.D457D,SERINC2:NM_178865:exon10:c.C1359T:p.D453D,SERINC2:NM_001199038:exon11:c.C1386T:p.D462D,SERINC2:NM_001199039:exon11:c.C1194T:p.D398D",NA,NA,NA,NA,NA,NA
chr1,32165701,32165701,G,A,R007_S,COL16A1,Missense_Mutation,NM_001856,exon3,c.C89T,p.P30L,SNP,SNVindel,exonic,COL16A1,NA,nonsynonymous SNV,COL16A1:NM_001856:exon3:c.C89T:p.P30L,T,N,N,T,N,T
chr1,32256750,32256750,C,T,R007_S,SPOCD1,Silent,NM_001281988,exon15,c.G1545A,p.K515K,SNP,SNVindel,exonic,SPOCD1,NA,synonymous SNV,"SPOCD1:NM_001281988:exon15:c.G1545A:p.K515K,SPOCD1:NM_001281987:exon16:c.G3066A:p.K1022K,SPOCD1:NM_144569:exon16:c.G3105A:p.K1035K",NA,NA,NA,NA,NA,NA
chr1,33160507,33160507,G,A,R007_S,SYNC,Missense_Mutation,NM_001161708,exon2,c.C1192T,p.L398F,SNP,SNVindel,exonic,SYNC,NA,nonsynonymous SNV,"SYNC:NM_001161708:exon2:c.C1192T:p.L398F,SYNC:NM_030786:exon2:c.C1192T:p.L398F",D,D,D,D,N,D
chr1,33235274,33235274,G,A,R007_S,KIAA1522,Missense_Mutation,NM_001198972,exon5,c.G410A,p.G137D,SNP,SNVindel,exonic,KIAA1522,NA,nonsynonymous SNV,"KIAA1522:NM_001198972:exon5:c.G410A:p.G137D,KIAA1522:NM_001369553:exon5:c.G443A:p.G148D,KIAA1522:NM_020888:exon5:c.G587A:p.G196D",D,D,D,T,D,T
chr1,33318744,33318744,G,A,R007_S,S100PBP,Silent,NM_001256121,exon6,c.G1089A,p.Q363Q,SNP,SNVindel,exonic,S100PBP,NA,synonymous SNV,"S100PBP:NM_001256121:exon6:c.G1089A:p.Q363Q,S100PBP:NM_022753:exon6:c.G1089A:p.Q363Q",NA,NA,NA,NA,NA,NA
chr1,33549643,33549643,C,T,R007_S,AZIN2,Missense_Mutation,NM_001301825,exon2,c.C194T,p.P65L,SNP,SNVindel,exonic,AZIN2,NA,nonsynonymous SNV,"AZIN2:NM_001301825:exon2:c.C194T:p.P65L,AZIN2:NM_001301826:exon2:c.C194T:p.P65L,AZIN2:NM_001293562:exon4:c.C194T:p.P65L,AZIN2:NM_052998:exon5:c.C194T:p.P65L",D,D,D,T,D,T
chr1,33834174,33834174,C,T,R007_S,PHC2,Missense_Mutation,NM_198040,exon5,c.G626A,p.G209D,SNP,SNVindel,exonic,PHC2,NA,nonsynonymous SNV,PHC2:NM_198040:exon5:c.G626A:p.G209D,T,N,D,T,N,T
chr1,33944917,33944917,C,G,R007_S,ZSCAN20,Missense_Mutation,NM_145238,exon2,c.C28G,p.Q10E,SNP,SNVindel,exonic,ZSCAN20,NA,nonsynonymous SNV,ZSCAN20:NM_145238:exon2:c.C28G:p.Q10E,D,N,N,T,N,T
chr1,35370434,35370434,G,A,R007_S,DLGAP3,Missense_Mutation,NM_001080418,exon3,c.C551T,p.S184F,SNP,SNVindel,exonic,DLGAP3,NA,nonsynonymous SNV,DLGAP3:NM_001080418:exon3:c.C551T:p.S184F,D,D,D,T,D,T
chr1,35580510,35580510,C,G,R007_S,ZMYM1,Missense_Mutation,NM_001319955,exon9,c.C2854G,p.L952V,SNP,SNVindel,exonic,ZMYM1,NA,nonsynonymous SNV,"ZMYM1:NM_001319955:exon9:c.C2854G:p.L952V,ZMYM1:NM_001289089:exon10:c.C3022G:p.L1008V,ZMYM1:NM_024772:exon10:c.C3079G:p.L1027V,ZMYM1:NM_001289088:exon11:c.C3079G:p.L1027V,ZMYM1:NM_001289090:exon11:c.C3079G:p.L1027V,ZMYM1:NM_001289091:exon11:c.C1999G:p.L667V",T,N,N,T,N,T
chr1,35580572,35580572,C,T,R007_S,ZMYM1,Silent,NM_001319955,exon9,c.C2916T,p.F972F,SNP,SNVindel,exonic,ZMYM1,NA,synonymous SNV,"ZMYM1:NM_001319955:exon9:c.C2916T:p.F972F,ZMYM1:NM_001289089:exon10:c.C3084T:p.F1028F,ZMYM1:NM_024772:exon10:c.C3141T:p.F1047F,ZMYM1:NM_001289088:exon11:c.C3141T:p.F1047F,ZMYM1:NM_001289090:exon11:c.C3141T:p.F1047F,ZMYM1:NM_001289091:exon11:c.C2061T:p.F687F",NA,NA,NA,NA,NA,NA
chr1,35580636,35580636,C,G,R007_S,ZMYM1,Missense_Mutation,NM_001319955,exon9,c.C2980G,p.L994V,SNP,SNVindel,exonic,ZMYM1,NA,nonsynonymous SNV,"ZMYM1:NM_001319955:exon9:c.C2980G:p.L994V,ZMYM1:NM_001289089:exon10:c.C3148G:p.L1050V,ZMYM1:NM_024772:exon10:c.C3205G:p.L1069V,ZMYM1:NM_001289088:exon11:c.C3205G:p.L1069V,ZMYM1:NM_001289090:exon11:c.C3205G:p.L1069V,ZMYM1:NM_001289091:exon11:c.C2125G:p.L709V",D,N,N,T,N,T
chr1,35873643,35873643,C,T,R007_S,ZMYM4,Silent,NM_001350140,exon24,c.C2859T,p.S953S,SNP,SNVindel,exonic,ZMYM4,NA,synonymous SNV,"ZMYM4:NM_001350140:exon24:c.C2859T:p.S953S,ZMYM4:NM_005095:exon26:c.C3831T:p.S1277S,ZMYM4:NM_001350138:exon27:c.C3735T:p.S1245S,ZMYM4:NM_001350139:exon27:c.C2859T:p.S953S",NA,NA,NA,NA,NA,NA
chr1,36564182,36564182,C,T,R007_S,COL8A2,Missense_Mutation,NM_001294347,exon4,c.G905A,p.G302E,SNP,SNVindel,exonic,COL8A2,NA,nonsynonymous SNV,"COL8A2:NM_001294347:exon4:c.G905A:p.G302E,COL8A2:NM_005202:exon4:c.G1100A:p.G367E",D,D,D,D,D,D
chr1,36772773,36772773,C,T,R007_S,SH3D21,Missense_Mutation,NM_001162530,exon4,c.C232T,p.P78S,SNP,SNVindel,exonic,SH3D21,NA,nonsynonymous SNV,SH3D21:NM_001162530:exon4:c.C232T:p.P78S,T,U,N,T,N,T
chr1,36934785,36934785,C,T,R007_S,CSF3R,Silent,NM_000760,exon12,c.G1548A,p.Q516Q,SNP,SNVindel,exonic,CSF3R,NA,synonymous SNV,"CSF3R:NM_000760:exon12:c.G1548A:p.Q516Q,CSF3R:NM_156039:exon12:c.G1548A:p.Q516Q,CSF3R:NM_172313:exon12:c.G1548A:p.Q516Q",NA,NA,NA,NA,NA,NA
chr1,36939424,36939424,G,A,R007_S,CSF3R,Silent,NM_000760,exon5,c.C426T,p.C142C,SNP,SNVindel,exonic,CSF3R,NA,synonymous SNV,"CSF3R:NM_000760:exon5:c.C426T:p.C142C,CSF3R:NM_156039:exon5:c.C426T:p.C142C,CSF3R:NM_172313:exon5:c.C426T:p.C142C",NA,NA,NA,NA,NA,NA
chr1,37979121,37979121,C,T,R007_S,MEAF6,Missense_Mutation,NM_001270875,exon2,c.G109A,p.E37K,SNP,SNVindel,exonic,MEAF6,NA,nonsynonymous SNV,"MEAF6:NM_001270875:exon2:c.G109A:p.E37K,MEAF6:NM_001270876:exon2:c.G109A:p.E37K,MEAF6:NM_022756:exon2:c.G109A:p.E37K",D,D,D,.,D,D
chr1,38003598,38003598,G,A,R007_S,SNIP1,Silent,NM_024700,exon4,c.C942T,p.T314T,SNP,SNVindel,exonic,SNIP1,NA,synonymous SNV,SNIP1:NM_024700:exon4:c.C942T:p.T314T,NA,NA,NA,NA,NA,NA
chr1,38450401,38450401,C,T,R007_S,SF3A3,Silent,NM_001320830,exon3,c.G195A,p.E65E,SNP,SNVindel,exonic,SF3A3,NA,synonymous SNV,"SF3A3:NM_001320830:exon3:c.G195A:p.E65E,SF3A3:NM_006802:exon5:c.G354A:p.E118E",NA,NA,NA,NA,NA,NA
chr1,38511211,38511211,C,T,R007_S,POU3F1,Missense_Mutation,NM_002699,exon1,c.G1205A,p.G402D,SNP,SNVindel,exonic,POU3F1,NA,nonsynonymous SNV,POU3F1:NM_002699:exon1:c.G1205A:p.G402D,D,.,D,D,D,T
chr1,38511333,38511333,G,A,R007_S,POU3F1,Silent,NM_002699,exon1,c.C1083T,p.C361C,SNP,SNVindel,exonic,POU3F1,NA,synonymous SNV,POU3F1:NM_002699:exon1:c.C1083T:p.C361C,NA,NA,NA,NA,NA,NA
chr1,39340749,39340749,C,T,R007_S,GJA9,Missense_Mutation,NM_030772,exon2,c.G1022A,p.S341N,SNP,SNVindel,exonic,GJA9,NA,nonsynonymous SNV,GJA9:NM_030772:exon2:c.G1022A:p.S341N,T,N,N,D,N,D
chr1,39853941,39853941,G,A,R007_S,MACF1,Missense_Mutation,NM_012090,exon52,c.G9241A,p.D3081N,SNP,SNVindel,exonic,MACF1,NA,nonsynonymous SNV,MACF1:NM_012090:exon52:c.G9241A:p.D3081N,D,D,D,T,D,T
chr1,39905076,39905076,C,T,R007_S,MACF1,Silent,NM_012090,exon67,c.C12174T,p.L4058L,SNP,SNVindel,exonic,MACF1,NA,synonymous SNV,MACF1:NM_012090:exon67:c.C12174T:p.L4058L,NA,NA,NA,NA,NA,NA
chr1,40309840,40309840,C,T,R007_S,TRIT1,Silent,NM_001312692,exon8,c.G921A,p.E307E,SNP,SNVindel,exonic,TRIT1,NA,synonymous SNV,"TRIT1:NM_001312692:exon8:c.G921A:p.E307E,TRIT1:NM_001312691:exon9:c.G1089A:p.E363E,TRIT1:NM_017646:exon10:c.G1167A:p.E389E",NA,NA,NA,NA,NA,NA
chr1,40366999,40366999,C,T,R007_S,MYCL,Silent,NM_001033081,exon1,c.G108A,p.V36V,SNP,SNVindel,exonic,MYCL,NA,synonymous SNV,"MYCL:NM_001033081:exon1:c.G108A:p.V36V,MYCL:NM_001033082:exon2:c.G198A:p.V66V,MYCL:NM_005376:exon2:c.G198A:p.V66V",NA,NA,NA,NA,NA,NA
chr1,40421025,40421025,C,T,R007_S,MFSD2A,Missense_Mutation,NM_001136493,exon1,c.C61T,p.L21F,SNP,SNVindel,exonic,MFSD2A,NA,nonsynonymous SNV,"MFSD2A:NM_001136493:exon1:c.C61T:p.L21F,MFSD2A:NM_001287809:exon1:c.C61T:p.L21F,MFSD2A:NM_001349821:exon1:c.C61T:p.L21F,MFSD2A:NM_001349822:exon1:c.C61T:p.L21F,MFSD2A:NM_032793:exon1:c.C61T:p.L21F",T,N,D,.,N,T
chr1,40758294,40758294,C,T,R007_S,ZMPSTE24,Missense_Mutation,NM_005857,exon10,c.C1381T,p.P461S,SNP,SNVindel,exonic,ZMPSTE24,NA,nonsynonymous SNV,ZMPSTE24:NM_005857:exon10:c.C1381T:p.P461S,D,D,D,T,D,T
chr1,40776907,40776907,C,T,R007_S,COL9A2,Missense_Mutation,NM_001852,exon11,c.G571A,p.V191M,SNP,SNVindel,exonic,COL9A2,NA,nonsynonymous SNV,COL9A2:NM_001852:exon11:c.G571A:p.V191M,D,D,D,D,N,D
chr1,40878745,40878745,G,A,R007_S,SMAP2,Missense_Mutation,NM_001198978,exon5,c.G370A,p.E124K,SNP,SNVindel,exonic,SMAP2,NA,nonsynonymous SNV,"SMAP2:NM_001198978:exon5:c.G370A:p.E124K,SMAP2:NM_001198979:exon5:c.G445A:p.E149K,SMAP2:NM_001198980:exon5:c.G220A:p.E74K,SMAP2:NM_022733:exon5:c.G460A:p.E154K",T,N,D,T,N,T
chr1,40980646,40980646,G,A,R007_S,EXO5,Missense_Mutation,NM_001346948,exon2,c.G430A,p.A144T,SNP,SNVindel,exonic,EXO5,NA,nonsynonymous SNV,"EXO5:NM_001346948:exon2:c.G430A:p.A144T,EXO5:NM_001346954:exon2:c.G430A:p.A144T,EXO5:NM_001346956:exon2:c.G430A:p.A144T,EXO5:NM_001346946:exon3:c.G430A:p.A144T,EXO5:NM_001346951:exon3:c.G430A:p.A144T,EXO5:NM_001346952:exon3:c.G430A:p.A144T,EXO5:NM_001346955:exon3:c.G430A:p.A144T,EXO5:NM_022774:exon3:c.G430A:p.A144T,EXO5:NM_001346947:exon4:c.G430A:p.A144T,EXO5:NM_001346949:exon4:c.G430A:p.A144T,EXO5:NM_001346950:exon4:c.G430A:p.A144T,EXO5:NM_001346953:exon4:c.G430A:p.A144T",D,N,D,T,D,T
chr1,42045446,42045446,G,A,R007_S,HIVEP3,Missense_Mutation,NM_001127714,exon3,c.C5023T,p.L1675F,SNP,SNVindel,exonic,HIVEP3,NA,nonsynonymous SNV,"HIVEP3:NM_001127714:exon3:c.C5023T:p.L1675F,HIVEP3:NM_024503:exon4:c.C5023T:p.L1675F",D,D,D,T,D,T
chr1,42047733,42047733,C,T,R007_S,HIVEP3,Silent,NM_001127714,exon3,c.G2736A,p.E912E,SNP,SNVindel,exonic,HIVEP3,NA,synonymous SNV,"HIVEP3:NM_001127714:exon3:c.G2736A:p.E912E,HIVEP3:NM_024503:exon4:c.G2736A:p.E912E",NA,NA,NA,NA,NA,NA
chr1,42645432,42645432,G,A,R007_S,FOXJ3,Silent,NM_001198852,exon12,c.C1716T,p.S572S,SNP,SNVindel,exonic,FOXJ3,NA,synonymous SNV,"FOXJ3:NM_001198852:exon12:c.C1716T:p.S572S,FOXJ3:NM_001198850:exon13:c.C1818T:p.S606S,FOXJ3:NM_014947:exon13:c.C1818T:p.S606S,FOXJ3:NM_001198851:exon15:c.C1818T:p.S606S",NA,NA,NA,NA,NA,NA
chr1,43224586,43224586,C,T,R007_S,P3H1,Missense_Mutation,NM_001146289,exon4,c.G877A,p.E293K,SNP,SNVindel,exonic,P3H1,NA,nonsynonymous SNV,"P3H1:NM_001146289:exon4:c.G877A:p.E293K,P3H1:NM_001243246:exon4:c.G877A:p.E293K,P3H1:NM_022356:exon4:c.G877A:p.E293K",T,D,D,T,N,T
chr1,43394692,43394692,C,T,R007_S,SLC2A1,Missense_Mutation,NM_006516,exon8,c.G985A,p.E329K,SNP,SNVindel,exonic,SLC2A1,NA,nonsynonymous SNV,SLC2A1:NM_006516:exon8:c.G985A:p.E329K,D,D,D,T,D,D
chr1,43650954,43650954,C,T,R007_S,CFAP57,Missense_Mutation,NM_001167965,exon5,c.C896T,p.A299V,SNP,SNVindel,exonic,CFAP57,NA,nonsynonymous SNV,"CFAP57:NM_001167965:exon5:c.C896T:p.A299V,CFAP57:NM_001195831:exon5:c.C896T:p.A299V,CFAP57:NM_152498:exon5:c.C896T:p.A299V",T,N,D,T,N,T
chr1,43665066,43665066,C,T,R007_S,CFAP57,Silent,NM_001167965,exon9,c.C1434T,p.S478S,SNP,SNVindel,exonic,CFAP57,NA,synonymous SNV,"CFAP57:NM_001167965:exon9:c.C1434T:p.S478S,CFAP57:NM_001195831:exon9:c.C1434T:p.S478S,CFAP57:NM_152498:exon9:c.C1434T:p.S478S",NA,NA,NA,NA,NA,NA
chr1,43719715,43719715,G,A,R007_S,CFAP57,Silent,NM_001195831,exon24,c.G3705A,p.R1235R,SNP,SNVindel,exonic,CFAP57,NA,synonymous SNV,CFAP57:NM_001195831:exon24:c.G3705A:p.R1235R,NA,NA,NA,NA,NA,NA
chr1,43829767,43829767,G,A,R007_S,ELOVL1,Silent,NM_001256401,exon7,c.C579T,p.Y193Y,SNP,SNVindel,exonic,ELOVL1,NA,synonymous SNV,"ELOVL1:NM_001256401:exon7:c.C579T:p.Y193Y,ELOVL1:NM_001256402:exon7:c.C417T:p.Y139Y,ELOVL1:NM_001256399:exon8:c.C660T:p.Y220Y,ELOVL1:NM_022821:exon8:c.C660T:p.Y220Y",NA,NA,NA,NA,NA,NA
chr1,43851759,43851759,C,T,R007_S,MED8,Missense_Mutation,NM_001001653,exon6,c.G365A,p.G122E,SNP,SNVindel,exonic,MED8,NA,nonsynonymous SNV,"MED8:NM_001001653:exon6:c.G365A:p.G122E,MED8:NM_052877:exon6:c.G632A:p.G211E,MED8:NM_201542:exon6:c.G632A:p.G211E",D,D,D,.,N,T
chr1,43892990,43892990,C,T,R007_S,SZT2,Missense_Mutation,NM_015284,exon24,c.C3301T,p.P1101S,SNP,SNVindel,exonic,SZT2,NA,nonsynonymous SNV,"SZT2:NM_015284:exon24:c.C3301T:p.P1101S,SZT2:NM_001365999:exon25:c.C3472T:p.P1158S",T,N,N,.,N,T
chr1,43907210,43907210,G,A,R007_S,SZT2,Missense_Mutation,NM_015284,exon53,c.G7376A,p.G2459E,SNP,SNVindel,exonic,SZT2,NA,nonsynonymous SNV,"SZT2:NM_015284:exon53:c.G7376A:p.G2459E,SZT2:NM_001365999:exon54:c.G7547A:p.G2516E",D,D,D,.,D,T
chr1,44069718,44069718,G,A,R007_S,PTPRF,Silent,NM_130440,exon15,c.G2868A,p.Q956Q,SNP,SNVindel,exonic,PTPRF,NA,synonymous SNV,"PTPRF:NM_130440:exon15:c.G2868A:p.Q956Q,PTPRF:NM_002840:exon16:c.G2895A:p.Q965Q",NA,NA,NA,NA,NA,NA
chr1,44451225,44451225,C,T,R007_S,B4GALT2,Silent,NM_001005417,exon6,c.C900T,p.D300D,SNP,SNVindel,exonic,B4GALT2,NA,synonymous SNV,"B4GALT2:NM_001005417:exon6:c.C900T:p.D300D,B4GALT2:NM_003780:exon6:c.C900T:p.D300D,B4GALT2:NM_030587:exon6:c.C987T:p.D329D",NA,NA,NA,NA,NA,NA
chr1,44774023,44774023,C,T,R007_S,ERI3,Silent,NM_001301698,exon5,c.G483A,p.K161K,SNP,SNVindel,exonic,ERI3,NA,synonymous SNV,"ERI3:NM_001301698:exon5:c.G483A:p.K161K,ERI3:NM_001301699:exon5:c.G483A:p.K161K,ERI3:NM_001301701:exon5:c.G186A:p.K62K,ERI3:NM_001301700:exon6:c.G483A:p.K161K,ERI3:NM_024066:exon6:c.G717A:p.K239K",NA,NA,NA,NA,NA,NA
chr1,45272129,45272129,C,T,R007_S,TCTEX1D4,Missense_Mutation,NM_001013632,exon2,c.G212A,p.G71D,SNP,SNVindel,exonic,TCTEX1D4,NA,nonsynonymous SNV,TCTEX1D4:NM_001013632:exon2:c.G212A:p.G71D,T,N,N,T,N,T
chr1,45293359,45293359,G,A,R007_S,PTCH2,Missense_Mutation,NM_001166292,exon15,c.C2086T,p.L696F,SNP,SNVindel,exonic,PTCH2,NA,nonsynonymous SNV,"PTCH2:NM_001166292:exon15:c.C2086T:p.L696F,PTCH2:NM_003738:exon15:c.C2086T:p.L696F",D,N,D,D,D,D
chr1,45473141,45473141,C,T,R007_S,HECTD3,Missense_Mutation,NM_024602,exon10,c.G1447A,p.E483K,SNP,SNVindel,exonic,HECTD3,NA,nonsynonymous SNV,HECTD3:NM_024602:exon10:c.G1447A:p.E483K,T,D,D,T,N,T
chr1,46087151,46087151,C,T,R007_S,CCDC17,Missense_Mutation,NM_001114938,exon10,c.G1190A,p.G397D,SNP,SNVindel,exonic,CCDC17,NA,nonsynonymous SNV,"CCDC17:NM_001114938:exon10:c.G1190A:p.G397D,CCDC17:NM_001190182:exon10:c.G1163A:p.G388D",D,D,D,T,D,D
chr1,46088898,46088898,G,A,R007_S,CCDC17,Missense_Mutation,NM_001114938,exon3,c.C484T,p.R162C,SNP,SNVindel,exonic,CCDC17,NA,nonsynonymous SNV,"CCDC17:NM_001114938:exon3:c.C484T:p.R162C,CCDC17:NM_001190182:exon3:c.C457T:p.R153C",D,N,N,T,D,T
chr1,46812630,46812630,G,A,R007_S,NSUN4,Missense_Mutation,NM_001256127,exon3,c.G328A,p.D110N,SNP,SNVindel,exonic,NSUN4,NA,nonsynonymous SNV,"NSUN4:NM_001256127:exon3:c.G328A:p.D110N,NSUN4:NM_001256128:exon3:c.G328A:p.D110N,NSUN4:NM_199044:exon3:c.G475A:p.D159N",D,D,D,T,D,T
chr1,47716850,47716850,G,A,R007_S,STIL,Silent,NM_001048166,exon17,c.C3825T,p.F1275F,SNP,SNVindel,exonic,STIL,NA,synonymous SNV,"STIL:NM_001048166:exon17:c.C3825T:p.F1275F,STIL:NM_003035:exon17:c.C3822T:p.F1274F,STIL:NM_001282936:exon18:c.C3822T:p.F1274F,STIL:NM_001282937:exon18:c.C3771T:p.F1257F,STIL:NM_001282938:exon19:c.C3684T:p.F1228F,STIL:NM_001282939:exon19:c.C3630T:p.F1210F",NA,NA,NA,NA,NA,NA
chr1,52874259,52874259,G,A,R007_S,PRPF38A,Silent,NM_032864,exon3,c.G309A,p.G103G,SNP,SNVindel,exonic,PRPF38A,NA,synonymous SNV,PRPF38A:NM_032864:exon3:c.G309A:p.G103G,NA,NA,NA,NA,NA,NA
chr1,52943545,52943545,C,T,R007_S,TUT4,Missense_Mutation,NM_001009881,exon12,c.G1858A,p.A620T,SNP,SNVindel,exonic,TUT4,NA,nonsynonymous SNV,"TUT4:NM_001009881:exon12:c.G1858A:p.A620T,TUT4:NM_015269:exon12:c.G1858A:p.A620T",T,N,N,T,N,T
chr1,53347271,53347271,C,T,R007_S,ZYG11A,Silent,NM_001307931,exon10,c.C852T,p.H284H,SNP,SNVindel,exonic,ZYG11A,NA,synonymous SNV,"ZYG11A:NM_001307931:exon10:c.C852T:p.H284H,ZYG11A:NM_001004339:exon11:c.C1878T:p.H626H",NA,NA,NA,NA,NA,NA
chr1,53547676,53547676,C,T,R007_S,PODN,Missense_Mutation,NM_153703,exon10,c.C1829T,p.S610F,SNP,SNVindel,exonic,PODN,NA,nonsynonymous SNV,"PODN:NM_153703:exon10:c.C1829T:p.S610F,PODN:NM_001199081:exon11:c.C1772T:p.S591F,PODN:NM_001199080:exon12:c.C1772T:p.S591F",D,N,D,T,D,T
chr1,53716397,53716397,C,T,R007_S,LRP8,Missense_Mutation,NM_017522,exon15,c.G2029A,p.G677R,SNP,SNVindel,exonic,LRP8,NA,nonsynonymous SNV,"LRP8:NM_017522:exon15:c.G2029A:p.G677R,LRP8:NM_033300:exon15:c.G2131A:p.G711R,LRP8:NM_001018054:exon17:c.G2641A:p.G881R,LRP8:NM_004631:exon17:c.G2641A:p.G881R",T,.,D,T,D,T
chr1,54060181,54060181,C,T,R007_S,GLIS1,Missense_Mutation,NM_147193,exon3,c.G395A,p.G132D,SNP,SNVindel,exonic,GLIS1,NA,nonsynonymous SNV,"GLIS1:NM_147193:exon3:c.G395A:p.G132D,GLIS1:NM_001367484:exon4:c.G920A:p.G307D",D,N,N,T,N,T
chr1,54273464,54273464,C,T,R007_S,NDC1,Silent,NM_001168551,exon8,c.G636A,p.E212E,SNP,SNVindel,exonic,NDC1,NA,synonymous SNV,"NDC1:NM_001168551:exon8:c.G636A:p.E212E,NDC1:NM_018087:exon8:c.G756A:p.E252E",NA,NA,NA,NA,NA,NA
chr1,54474728,54474728,G,A,R007_S,LDLRAD1,Missense_Mutation,NM_001276392,exon4,c.C428T,p.P143L,SNP,SNVindel,exonic,LDLRAD1,NA,nonsynonymous SNV,"LDLRAD1:NM_001276392:exon4:c.C428T:p.P143L,LDLRAD1:NM_001276394:exon4:c.C278T:p.P93L,LDLRAD1:NM_001276393:exon5:c.C416T:p.P139L,LDLRAD1:NM_001010978:exon6:c.C545T:p.P182L",D,D,D,D,D,D
chr1,54678331,54678331,G,A,R007_S,MRPL37,Silent,NM_001330602,exon5,c.G990A,p.G330G,SNP,SNVindel,exonic,MRPL37,NA,synonymous SNV,"MRPL37:NM_001330602:exon5:c.G990A:p.G330G,MRPL37:NM_016491:exon5:c.G990A:p.G330G",NA,NA,NA,NA,NA,NA
chr1,55075365,55075365,G,A,R007_S,FAM151A,Missense_Mutation,NM_176782,exon8,c.C1334T,p.A445V,SNP,SNVindel,exonic,FAM151A,NA,nonsynonymous SNV,FAM151A:NM_176782:exon8:c.C1334T:p.A445V,D,N,D,T,N,T
chr1,55172182,55172182,C,T,R007_S,MROH7,Silent,NM_001291332,exon20,c.C2193T,p.S731S,SNP,SNVindel,exonic,MROH7,NA,synonymous SNV,"MROH7:NM_001291332:exon20:c.C2193T:p.S731S,MROH7:NM_001039464:exon22:c.C3639T:p.S1213S",NA,NA,NA,NA,NA,NA
chr1,55464910,55464910,C,T,R007_S,BSND,Silent,NM_057176,exon1,c.C51T,p.F17F,SNP,SNVindel,exonic,BSND,NA,synonymous SNV,BSND:NM_057176:exon1:c.C51T:p.F17F,NA,NA,NA,NA,NA,NA
chr1,55524235,55524235,C,T,R007_S,PCSK9,Missense_Mutation,NM_174936,exon9,c.C1418T,p.A473V,SNP,SNVindel,exonic,PCSK9,NA,nonsynonymous SNV,PCSK9:NM_174936:exon9:c.C1418T:p.A473V,T,N,D,T,N,T
chr1,57258462,57258462,G,A,R007_S,FYB2,Silent,NM_001004303,exon2,c.C24T,p.N8N,SNP,SNVindel,exonic,FYB2,NA,synonymous SNV,FYB2:NM_001004303:exon2:c.C24T:p.N8N,NA,NA,NA,NA,NA,NA
chr1,59787383,59787383,C,T,R007_S,FGGY,Silent,NM_001113411,exon2,c.C162T,p.S54S,SNP,SNVindel,exonic,FGGY,NA,synonymous SNV,"FGGY:NM_001113411:exon2:c.C162T:p.S54S,FGGY:NM_001244714:exon2:c.C162T:p.S54S,FGGY:NM_001350790:exon2:c.C162T:p.S54S,FGGY:NM_001350791:exon2:c.C162T:p.S54S,FGGY:NM_001350794:exon2:c.C162T:p.S54S,FGGY:NM_001350795:exon2:c.C162T:p.S54S,FGGY:NM_018291:exon2:c.C162T:p.S54S",NA,NA,NA,NA,NA,NA
chr1,60463396,60463396,G,A,R007_S,C1orf87,Silent,NM_152377,exon11,c.C1365T,p.V455V,SNP,SNVindel,exonic,C1orf87,NA,synonymous SNV,C1orf87:NM_152377:exon11:c.C1365T:p.V455V,NA,NA,NA,NA,NA,NA
chr1,60466799,60466799,G,A,R007_S,C1orf87,Missense_Mutation,NM_152377,exon10,c.C1222T,p.P408S,SNP,SNVindel,exonic,C1orf87,NA,nonsynonymous SNV,C1orf87:NM_152377:exon10:c.C1222T:p.P408S,T,N,N,T,D,T
chr1,62676222,62676222,G,A,R007_S,L1TD1,Silent,NM_019079,exon4,c.G1776A,p.K592K,SNP,SNVindel,exonic,L1TD1,NA,synonymous SNV,"L1TD1:NM_019079:exon4:c.G1776A:p.K592K,L1TD1:NM_001164835:exon5:c.G1776A:p.K592K",NA,NA,NA,NA,NA,NA
chr1,62739824,62739824,C,T,R007_S,KANK4,Missense_Mutation,NM_181712,exon3,c.G952A,p.V318M,SNP,SNVindel,exonic,KANK4,NA,nonsynonymous SNV,KANK4:NM_181712:exon3:c.G952A:p.V318M,T,N,N,T,N,T
chr1,62739942,62739942,G,A,R007_S,KANK4,Silent,NM_181712,exon3,c.C834T,p.T278T,SNP,SNVindel,exonic,KANK4,NA,synonymous SNV,KANK4:NM_181712:exon3:c.C834T:p.T278T,NA,NA,NA,NA,NA,NA
chr1,64104374,64104374,G,A,R007_S,PGM1,Silent,NM_001172818,exon7,c.G1101A,p.K367K,SNP,SNVindel,exonic,PGM1,NA,synonymous SNV,"PGM1:NM_001172818:exon7:c.G1101A:p.K367K,PGM1:NM_001172819:exon7:c.G456A:p.K152K,PGM1:NM_002633:exon7:c.G1047A:p.K349K",NA,NA,NA,NA,NA,NA
chr1,64644371,64644371,C,T,R007_S,ROR1,Missense_Mutation,NM_005012,exon9,c.C2647T,p.P883S,SNP,SNVindel,exonic,ROR1,NA,nonsynonymous SNV,ROR1:NM_005012:exon9:c.C2647T:p.P883S,D,D,D,T,N,T
chr1,65867556,65867556,G,A,R007_S,DNAJC6,Silent,NM_001256864,exon15,c.G2220A,p.G740G,SNP,SNVindel,exonic,DNAJC6,NA,synonymous SNV,"DNAJC6:NM_001256864:exon15:c.G2220A:p.G740G,DNAJC6:NM_014787:exon15:c.G2049A:p.G683G,DNAJC6:NM_001256865:exon16:c.G2010A:p.G670G",NA,NA,NA,NA,NA,NA
chr1,67507967,67507967,C,T,R007_S,SLC35D1,Missense_Mutation,NM_015139,exon8,c.G681A,p.M227I,SNP,SNVindel,exonic,SLC35D1,NA,nonsynonymous SNV,SLC35D1:NM_015139:exon8:c.G681A:p.M227I,T,D,D,T,D,T
chr1,67518458,67518458,C,T,R007_S,SLC35D1,Missense_Mutation,NM_015139,exon3,c.G320A,p.R107Q,SNP,SNVindel,exonic,SLC35D1,NA,nonsynonymous SNV,SLC35D1:NM_015139:exon3:c.G320A:p.R107Q,T,D,D,T,N,T
chr1,67635237,67635237,C,T,R007_S,IL23R,Missense_Mutation,NM_144701,exon3,c.C283T,p.P95S,SNP,SNVindel,exonic,IL23R,NA,nonsynonymous SNV,IL23R:NM_144701:exon3:c.C283T:p.P95S,T,D,N,D,N,T
chr1,67685404,67685404,C,T,R007_S,IL23R,Missense_Mutation,NM_144701,exon7,c.C946T,p.P316S,SNP,SNVindel,exonic,IL23R,NA,nonsynonymous SNV,IL23R:NM_144701:exon7:c.C946T:p.P316S,T,D,N,T,D,T
chr1,68659711,68659711,C,T,R007_S,WLS,Silent,NM_001002292,exon2,c.G300A,p.E100E,SNP,SNVindel,exonic,WLS,NA,synonymous SNV,"WLS:NM_001002292:exon2:c.G300A:p.E100E,WLS:NM_024911:exon2:c.G306A:p.E102E",NA,NA,NA,NA,NA,NA
chr1,70758145,70758145,C,T,R007_S,ANKRD13C,Missense_Mutation,NM_030816,exon9,c.G1141A,p.E381K,SNP,SNVindel,exonic,ANKRD13C,NA,nonsynonymous SNV,ANKRD13C:NM_030816:exon9:c.G1141A:p.E381K,D,D,D,T,D,T
chr1,75175810,75175810,C,T,R007_S,CRYZ,Missense_Mutation,NM_001134759,exon4,c.G191A,p.R64K,SNP,SNVindel,exonic,CRYZ,NA,nonsynonymous SNV,"CRYZ:NM_001134759:exon4:c.G191A:p.R64K,CRYZ:NM_001130043:exon6:c.G602A:p.R201K,CRYZ:NM_001889:exon6:c.G602A:p.R201K,CRYZ:NM_001130042:exon7:c.G602A:p.R201K",T,N,N,T,N,T
chr1,75684182,75684182,C,T,R007_S,SLC44A5,Missense_Mutation,NM_001320283,exon15,c.G1504A,p.A502T,SNP,SNVindel,exonic,SLC44A5,NA,nonsynonymous SNV,"SLC44A5:NM_001320283:exon15:c.G1504A:p.A502T,SLC44A5:NM_001130058:exon17:c.G1522A:p.A508T,SLC44A5:NM_152697:exon17:c.G1522A:p.A508T,SLC44A5:NM_001320287:exon18:c.G1396A:p.A466T,SLC44A5:NM_001320285:exon19:c.G1396A:p.A466T",T,D,D,T,N,T
chr1,77510088,77510088,G,A,R007_S,ST6GALNAC5,Missense_Mutation,NM_030965,exon3,c.G461A,p.R154H,SNP,SNVindel,exonic,ST6GALNAC5,NA,nonsynonymous SNV,ST6GALNAC5:NM_030965:exon3:c.G461A:p.R154H,D,D,D,T,D,T
chr1,78248967,78248967,G,A,R007_S,MIGA1,Silent,NM_001270384,exon2,c.G126A,p.Q42Q,SNP,SNVindel,exonic,MIGA1,NA,synonymous SNV,"MIGA1:NM_001270384:exon2:c.G126A:p.Q42Q,MIGA1:NM_001363583:exon2:c.G30A:p.Q10Q,MIGA1:NM_001363584:exon2:c.G30A:p.Q10Q,MIGA1:NM_001363586:exon2:c.G30A:p.Q10Q,MIGA1:NM_198549:exon2:c.G126A:p.Q42Q",NA,NA,NA,NA,NA,NA
chr1,78340612,78340612,C,T,R007_S,MIGA1,Missense_Mutation,NM_001270384,exon16,c.C1765T,p.L589F,SNP,SNVindel,exonic,MIGA1,NA,nonsynonymous SNV,"MIGA1:NM_001270384:exon16:c.C1765T:p.L589F,MIGA1:NM_001363583:exon16:c.C1666T:p.L556F,MIGA1:NM_001363584:exon16:c.C1666T:p.L556F,MIGA1:NM_001363586:exon16:c.C1666T:p.L556F,MIGA1:NM_198549:exon16:c.C1762T:p.L588F",D,D,D,T,N,T
chr1,79115954,79115954,G,A,R007_S,IFI44,Missense_Mutation,NM_006417,exon2,c.G74A,p.S25N,SNP,SNVindel,exonic,IFI44,NA,nonsynonymous SNV,IFI44:NM_006417:exon2:c.G74A:p.S25N,T,N,N,T,N,T
chr1,90401198,90401198,G,A,R007_S,LRRC8D,Silent,NM_001134479,exon3,c.G2571A,p.G857G,SNP,SNVindel,exonic,LRRC8D,NA,synonymous SNV,"LRRC8D:NM_001134479:exon3:c.G2571A:p.G857G,LRRC8D:NM_018103:exon3:c.G2571A:p.G857G",NA,NA,NA,NA,NA,NA
chr1,90473214,90473214,G,A,R007_S,ZNF326,Missense_Mutation,NM_001320185,exon5,c.G253A,p.G85R,SNP,SNVindel,exonic,ZNF326,NA,nonsynonymous SNV,"ZNF326:NM_001320185:exon5:c.G253A:p.G85R,ZNF326:NM_182976:exon5:c.G520A:p.G174R",D,D,D,T,D,T
chr1,91405389,91405389,G,A,R007_S,ZNF644,Missense_Mutation,NM_201269,exon3,c.C1522T,p.P508S,SNP,SNVindel,exonic,ZNF644,NA,nonsynonymous SNV,ZNF644:NM_201269:exon3:c.C1522T:p.P508S,T,D,D,T,N,D
chr1,92789618,92789618,G,A,R007_S,RPAP2,Missense_Mutation,NM_024813,exon8,c.G1141A,p.E381K,SNP,SNVindel,exonic,RPAP2,NA,nonsynonymous SNV,RPAP2:NM_024813:exon8:c.G1141A:p.E381K,.,D,.,.,.,T
chr1,93309661,93309661,C,T,R007_S,DIPK1A,Missense_Mutation,NM_001252269,exon4,c.G431A,p.G144E,SNP,SNVindel,exonic,DIPK1A,NA,nonsynonymous SNV,"DIPK1A:NM_001252269:exon4:c.G431A:p.G144E,DIPK1A:NM_001252270:exon4:c.G389A:p.G130E,DIPK1A:NM_001006605:exon5:c.G566A:p.G189E,DIPK1A:NM_001252271:exon5:c.G491A:p.G164E",D,D,D,T,N,T
chr1,101004990,101004990,C,T,R007_S,GPR88,Silent,NM_022049,exon2,c.C468T,p.R156R,SNP,SNVindel,exonic,GPR88,NA,synonymous SNV,GPR88:NM_022049:exon2:c.C468T:p.R156R,NA,NA,NA,NA,NA,NA
chr1,101427456,101427456,G,A,R007_S,SLC30A7,Silent,NM_001144884,exon9,c.G915A,p.L305L,SNP,SNVindel,exonic,SLC30A7,NA,synonymous SNV,"SLC30A7:NM_001144884:exon9:c.G915A:p.L305L,SLC30A7:NM_133496:exon9:c.G915A:p.L305L",NA,NA,NA,NA,NA,NA
chr1,109807520,109807520,G,A,R007_S,CELSR2,Missense_Mutation,NM_001408,exon12,c.G5495A,p.C1832Y,SNP,SNVindel,exonic,CELSR2,NA,nonsynonymous SNV,CELSR2:NM_001408:exon12:c.G5495A:p.C1832Y,D,.,D,D,D,D
chr1,110022079,110022079,G,A,R007_S,SYPL2,Missense_Mutation,NM_001040709,exon6,c.G728A,p.G243D,SNP,SNVindel,exonic,SYPL2,NA,nonsynonymous SNV,SYPL2:NM_001040709:exon6:c.G728A:p.G243D,T,D,N,T,N,T
chr1,110050548,110050548,C,T,R007_S,AMIGO1,Silent,NM_020703,exon2,c.G987A,p.Q329Q,SNP,SNVindel,exonic,AMIGO1,NA,synonymous SNV,AMIGO1:NM_020703:exon2:c.G987A:p.Q329Q,NA,NA,NA,NA,NA,NA
chr1,110172482,110172482,C,T,R007_S,AMPD2,Silent,NM_001308170,exon14,c.C1864T,p.L622L,SNP,SNVindel,exonic,AMPD2,NA,synonymous SNV,"AMPD2:NM_001308170:exon14:c.C1864T:p.L622L,AMPD2:NM_001257361:exon15:c.C1735T:p.L579L,AMPD2:NM_004037:exon15:c.C1927T:p.L643L,AMPD2:NM_139156:exon15:c.C1846T:p.L616L,AMPD2:NM_001368809:exon16:c.C1927T:p.L643L",NA,NA,NA,NA,NA,NA
chr1,110299648,110299648,G,A,R007_S,EPS8L3,Missense_Mutation,NM_001319952,exon11,c.C1010T,p.T337I,SNP,SNVindel,exonic,EPS8L3,NA,nonsynonymous SNV,"EPS8L3:NM_001319952:exon11:c.C1010T:p.T337I,EPS8L3:NM_024526:exon12:c.C1109T:p.T370I,EPS8L3:NM_133181:exon12:c.C1109T:p.T370I,EPS8L3:NM_139053:exon12:c.C1112T:p.T371I",T,D,N,T,D,T
chr1,110456988,110456988,G,A,R007_S,CSF1,Silent,NM_000757,exon2,c.G147A,p.Q49Q,SNP,SNVindel,exonic,CSF1,NA,synonymous SNV,"CSF1:NM_000757:exon2:c.G147A:p.Q49Q,CSF1:NM_172210:exon2:c.G147A:p.Q49Q,CSF1:NM_172211:exon2:c.G147A:p.Q49Q,CSF1:NM_172212:exon2:c.G147A:p.Q49Q",NA,NA,NA,NA,NA,NA
chr1,111060302,111060302,C,T,R007_S,KCNA10,Missense_Mutation,NM_005549,exon1,c.G1108A,p.A370T,SNP,SNVindel,exonic,KCNA10,NA,nonsynonymous SNV,KCNA10:NM_005549:exon1:c.G1108A:p.A370T,D,N,D,D,D,D
chr1,111061198,111061198,G,A,R007_S,KCNA10,Missense_Mutation,NM_005549,exon1,c.C212T,p.A71V,SNP,SNVindel,exonic,KCNA10,NA,nonsynonymous SNV,KCNA10:NM_005549:exon1:c.C212T:p.A71V,T,N,N,D,N,T
chr1,111441781,111441781,C,T,R007_S,CD53,Silent,NM_001320638,exon6,c.C447T,p.C149C,SNP,SNVindel,exonic,CD53,NA,synonymous SNV,"CD53:NM_001320638:exon6:c.C447T:p.C149C,CD53:NM_000560:exon8:c.C624T:p.C208C,CD53:NM_001040033:exon9:c.C624T:p.C208C",NA,NA,NA,NA,NA,NA
chr1,111862964,111862964,G,A,R007_S,CHIA,Missense_Mutation,NM_001258002,exon8,c.G824A,p.G275D,SNP,SNVindel,exonic,CHIA,NA,nonsynonymous SNV,"CHIA:NM_001258002:exon8:c.G824A:p.G275D,CHIA:NM_021797:exon9:c.G983A:p.G328D,CHIA:NM_001040623:exon10:c.G824A:p.G275D,CHIA:NM_001258003:exon10:c.G983A:p.G328D,CHIA:NM_001258001:exon11:c.G983A:p.G328D,CHIA:NM_001258005:exon11:c.G824A:p.G275D,CHIA:NM_001258004:exon12:c.G824A:p.G275D,CHIA:NM_201653:exon12:c.G1307A:p.G436D",D,U,D,T,D,T
chr1,111962277,111962277,C,T,R007_S,OVGP1,Silent,NM_002557,exon9,c.G975A,p.G325G,SNP,SNVindel,exonic,OVGP1,NA,synonymous SNV,OVGP1:NM_002557:exon9:c.G975A:p.G325G,NA,NA,NA,NA,NA,NA
chr1,112042653,112042653,G,A,R007_S,ADORA3,Silent,NM_000677,exon2,c.C876T,p.T292T,SNP,SNVindel,exonic,ADORA3,NA,synonymous SNV,"ADORA3:NM_000677:exon2:c.C876T:p.T292T,ADORA3:NM_001302679:exon2:c.C441T:p.T147T",NA,NA,NA,NA,NA,NA
chr1,112247031,112247031,G,A,R007_S,RAP1A,Missense_Mutation,NM_001291896,exon6,c.G391A,p.G131S,SNP,SNVindel,exonic,RAP1A,NA,nonsynonymous SNV,"RAP1A:NM_001291896:exon6:c.G391A:p.G131S,RAP1A:NM_001370216:exon6:c.G391A:p.G131S,RAP1A:NM_001370217:exon6:c.G391A:p.G131S,RAP1A:NM_002884:exon6:c.G391A:p.G131S,RAP1A:NM_001010935:exon7:c.G391A:p.G131S",D,D,D,T,D,D
chr1,113232247,113232247,G,A,R007_S,MOV10,Silent,NM_001369507,exon3,c.G552A,p.Q184Q,SNP,SNVindel,exonic,MOV10,NA,synonymous SNV,"MOV10:NM_001369507:exon3:c.G552A:p.Q184Q,MOV10:NM_001130079:exon4:c.G552A:p.Q184Q,MOV10:NM_001321324:exon4:c.G552A:p.Q184Q,MOV10:NM_020963:exon4:c.G552A:p.Q184Q,MOV10:NM_001286072:exon5:c.G384A:p.Q128Q",NA,NA,NA,NA,NA,NA
chr1,113236743,113236743,G,A,R007_S,MOV10,Missense_Mutation,NM_001369507,exon7,c.G1244A,p.G415D,SNP,SNVindel,exonic,MOV10,NA,nonsynonymous SNV,"MOV10:NM_001369507:exon7:c.G1244A:p.G415D,MOV10:NM_001130079:exon8:c.G1244A:p.G415D,MOV10:NM_001321324:exon8:c.G1244A:p.G415D,MOV10:NM_020963:exon8:c.G1244A:p.G415D,MOV10:NM_001286072:exon9:c.G1076A:p.G359D",D,D,D,D,D,D
chr1,114280778,114280778,G,A,R007_S,PHTF1,Silent,NM_001323049,exon4,c.C285T,p.T95T,SNP,SNVindel,exonic,PHTF1,NA,synonymous SNV,"PHTF1:NM_001323049:exon4:c.C285T:p.T95T,PHTF1:NM_006608:exon4:c.C285T:p.T95T,PHTF1:NM_001323041:exon5:c.C285T:p.T95T,PHTF1:NM_001323042:exon5:c.C285T:p.T95T,PHTF1:NM_001323043:exon5:c.C285T:p.T95T,PHTF1:NM_001323044:exon5:c.C159T:p.T53T,PHTF1:NM_001323047:exon5:c.C285T:p.T95T,PHTF1:NM_001323048:exon5:c.C285T:p.T95T,PHTF1:NM_001323051:exon5:c.C159T:p.T53T,PHTF1:NM_001323052:exon5:c.C285T:p.T95T,PHTF1:NM_001323053:exon5:c.C285T:p.T95T,PHTF1:NM_001323045:exon6:c.C159T:p.T53T,PHTF1:NM_001323050:exon6:c.C159T:p.T53T",NA,NA,NA,NA,NA,NA
chr1,114680228,114680228,G,A,R007_S,SYT6,Silent,NM_001253772,exon3,c.C960T,p.D320D,SNP,SNVindel,exonic,SYT6,NA,synonymous SNV,"SYT6:NM_001253772:exon3:c.C960T:p.D320D,SYT6:NM_001270805:exon3:c.C705T:p.D235D,SYT6:NM_001366223:exon3:c.C705T:p.D235D,SYT6:NM_001366224:exon3:c.C960T:p.D320D,SYT6:NM_001366225:exon3:c.C960T:p.D320D,SYT6:NM_001366226:exon3:c.C705T:p.D235D,SYT6:NM_205848:exon3:c.C705T:p.D235D",NA,NA,NA,NA,NA,NA
chr1,114680504,114680504,C,T,R007_S,SYT6,Silent,NM_001253772,exon3,c.G684A,p.K228K,SNP,SNVindel,exonic,SYT6,NA,synonymous SNV,"SYT6:NM_001253772:exon3:c.G684A:p.K228K,SYT6:NM_001270805:exon3:c.G429A:p.K143K,SYT6:NM_001366223:exon3:c.G429A:p.K143K,SYT6:NM_001366224:exon3:c.G684A:p.K228K,SYT6:NM_001366225:exon3:c.G684A:p.K228K,SYT6:NM_001366226:exon3:c.G429A:p.K143K,SYT6:NM_205848:exon3:c.G429A:p.K143K",NA,NA,NA,NA,NA,NA
chr1,115256561,115256561,G,A,R007_S,NRAS,Silent,NM_002524,exon3,c.C150T,p.T50T,SNP,SNVindel,exonic,NRAS,NA,synonymous SNV,NRAS:NM_002524:exon3:c.C150T:p.T50T,NA,NA,NA,NA,NA,NA
chr1,115323115,115323115,C,T,R007_S,SIKE1,Silent,NM_001102396,exon1,c.G114A,p.R38R,SNP,SNVindel,exonic,SIKE1,NA,synonymous SNV,"SIKE1:NM_001102396:exon1:c.G114A:p.R38R,SIKE1:NM_025073:exon1:c.G114A:p.R38R",NA,NA,NA,NA,NA,NA
chr1,115576053,115576053,C,T,R007_S,TSHB,Missense_Mutation,NM_000549,exon2,c.C70T,p.P24S,SNP,SNVindel,exonic,TSHB,NA,nonsynonymous SNV,TSHB:NM_000549:exon2:c.C70T:p.P24S,D,D,D,D,D,D
chr1,116206407,116206407,C,T,R007_S,VANGL1,Silent,NM_001172411,exon4,c.C324T,p.Y108Y,SNP,SNVindel,exonic,VANGL1,NA,synonymous SNV,"VANGL1:NM_001172411:exon4:c.C324T:p.Y108Y,VANGL1:NM_001172412:exon4:c.C330T:p.Y110Y,VANGL1:NM_138959:exon4:c.C330T:p.Y110Y",NA,NA,NA,NA,NA,NA
chr1,116227963,116227963,G,A,R007_S,VANGL1,Missense_Mutation,NM_001172411,exon7,c.G1123A,p.A375T,SNP,SNVindel,exonic,VANGL1,NA,nonsynonymous SNV,"VANGL1:NM_001172411:exon7:c.G1123A:p.A375T,VANGL1:NM_001172412:exon7:c.G1129A:p.A377T,VANGL1:NM_138959:exon7:c.G1129A:p.A377T",T,N,N,T,N,T
chr1,117529561,117529561,G,A,R007_S,PTGFRN,Missense_Mutation,NM_020440,exon9,c.G2612A,p.R871H,SNP,SNVindel,exonic,PTGFRN,NA,nonsynonymous SNV,PTGFRN:NM_020440:exon9:c.G2612A:p.R871H,D,D,D,T,N,T
chr1,117556288,117556288,G,A,R007_S,CD101,Missense_Mutation,NM_001256106,exon4,c.G1102A,p.G368S,SNP,SNVindel,exonic,CD101,NA,nonsynonymous SNV,"CD101:NM_001256106:exon4:c.G1102A:p.G368S,CD101:NM_001256109:exon4:c.G1102A:p.G368S,CD101:NM_001256111:exon4:c.G916A:p.G306S,CD101:NM_004258:exon4:c.G1102A:p.G368S",T,D,N,T,D,T
chr1,118558776,118558776,C,T,R007_S,SPAG17,Missense_Mutation,NM_206996,exon29,c.G4099A,p.A1367T,SNP,SNVindel,exonic,SPAG17,NA,nonsynonymous SNV,SPAG17:NM_206996:exon29:c.G4099A:p.A1367T,T,N,N,T,N,T
chr1,118609470,118609470,G,A,R007_S,SPAG17,Missense_Mutation,NM_206996,exon18,c.C2438T,p.T813I,SNP,SNVindel,exonic,SPAG17,NA,nonsynonymous SNV,SPAG17:NM_206996:exon18:c.C2438T:p.T813I,D,N,N,T,D,T
chr1,119427386,119427386,G,A,R007_S,TBX15,Missense_Mutation,NM_001330677,exon8,c.C1778T,p.S593F,SNP,SNVindel,exonic,TBX15,NA,nonsynonymous SNV,"TBX15:NM_001330677:exon8:c.C1778T:p.S593F,TBX15:NM_152380:exon8:c.C1460T:p.S487F",D,D,D,D,N,D
chr1,119427716,119427716,G,A,R007_S,TBX15,Missense_Mutation,NM_001330677,exon8,c.C1448T,p.A483V,SNP,SNVindel,exonic,TBX15,NA,nonsynonymous SNV,"TBX15:NM_001330677:exon8:c.C1448T:p.A483V,TBX15:NM_152380:exon8:c.C1130T:p.A377V",T,D,D,D,N,T
chr1,120166090,120166090,G,A,R007_S,ZNF697,Silent,NM_001080470,exon3,c.C876T,p.A292A,SNP,SNVindel,exonic,ZNF697,NA,synonymous SNV,ZNF697:NM_001080470:exon3:c.C876T:p.A292A,NA,NA,NA,NA,NA,NA
chr1,120166556,120166556,G,A,R007_S,ZNF697,Missense_Mutation,NM_001080470,exon3,c.C410T,p.A137V,SNP,SNVindel,exonic,ZNF697,NA,nonsynonymous SNV,ZNF697:NM_001080470:exon3:c.C410T:p.A137V,T,.,N,T,N,T
chr1,120307109,120307109,C,T,R007_S,HMGCS2,Missense_Mutation,NM_001166107,exon2,c.G245A,p.G82E,SNP,SNVindel,exonic,HMGCS2,NA,nonsynonymous SNV,"HMGCS2:NM_001166107:exon2:c.G245A:p.G82E,HMGCS2:NM_005518:exon2:c.G245A:p.G82E",D,D,D,D,D,D
chr1,120438007,120438007,G,A,R007_S,ADAM30,Missense_Mutation,NM_021794,exon1,c.C953T,p.A318V,SNP,SNVindel,exonic,ADAM30,NA,nonsynonymous SNV,ADAM30:NM_021794:exon1:c.C953T:p.A318V,T,U,N,T,N,T
chr1,144882545,144882545,C,A,R007_S,PDE4DIP,Silent,NM_001350520,exon20,c.G3963T,p.G1321G,SNP,SNVindel,exonic,PDE4DIP,NA,synonymous SNV,"PDE4DIP:NM_001350520:exon20:c.G3963T:p.G1321G,PDE4DIP:NM_001198834:exon24:c.G3474T:p.G1158G,PDE4DIP:NM_014644:exon24:c.G3474T:p.G1158G,PDE4DIP:NM_001350521:exon27:c.G3885T:p.G1295G,PDE4DIP:NM_001350522:exon27:c.G3672T:p.G1224G",NA,NA,NA,NA,NA,NA
chr1,144916643,144916643,C,T,R007_S,PDE4DIP,Missense_Mutation,NM_001002811,exon9,c.G2201A,p.R734H,SNP,SNVindel,exonic,PDE4DIP,NA,nonsynonymous SNV,"PDE4DIP:NM_001002811:exon9:c.G2201A:p.R734H,PDE4DIP:NM_001350520:exon9:c.G2201A:p.R734H,PDE4DIP:NM_001002812:exon13:c.G1712A:p.R571H,PDE4DIP:NM_001198834:exon13:c.G1712A:p.R571H,PDE4DIP:NM_014644:exon13:c.G1712A:p.R571H,PDE4DIP:NM_001198832:exon16:c.G1910A:p.R637H,PDE4DIP:NM_001350521:exon16:c.G2123A:p.R708H,PDE4DIP:NM_001350522:exon16:c.G1910A:p.R637H,PDE4DIP:NM_001350523:exon16:c.G1910A:p.R637H",.,.,.,.,.,.
chr1,145473407,145473407,G,A,R007_S,ANKRD34A,Missense_Mutation,NM_001039888,exon4,c.G79A,p.G27R,SNP,SNVindel,exonic,ANKRD34A,NA,nonsynonymous SNV,ANKRD34A:NM_001039888:exon4:c.G79A:p.G27R,.,.,.,.,.,.
chr1,145561188,145561188,C,T,R007_S,ANKRD35,Silent,NM_001280799,exon8,c.C606T,p.D202D,SNP,SNVindel,exonic,ANKRD35,NA,synonymous SNV,"ANKRD35:NM_001280799:exon8:c.C606T:p.D202D,ANKRD35:NM_144698:exon10:c.C876T:p.D292D",.,.,.,.,.,.
chr1,145561845,145561845,G,A,R007_S,ANKRD35,Silent,NM_001280799,exon8,c.G1263A,p.G421G,SNP,SNVindel,exonic,ANKRD35,NA,synonymous SNV,"ANKRD35:NM_001280799:exon8:c.G1263A:p.G421G,ANKRD35:NM_144698:exon10:c.G1533A:p.G511G",NA,NA,NA,NA,NA,NA
chr1,145586820,145586820,G,A,R007_S,NUDT17,Silent,NM_001012758,exon7,c.C868T,p.L290L,SNP,SNVindel,exonic,NUDT17,NA,synonymous SNV,NUDT17:NM_001012758:exon7:c.C868T:p.L290L,.,.,.,.,.,.
chr1,147094155,147094155,C,T,R007_S,BCL9,Missense_Mutation,NM_004326,exon9,c.C2986T,p.P996S,SNP,SNVindel,exonic,BCL9,NA,nonsynonymous SNV,BCL9:NM_004326:exon9:c.C2986T:p.P996S,T,D,D,T,N,T
chr1,147230750,147230750,G,A,R007_S,GJA5,Silent,NM_005266,exon2,c.C597T,p.S199S,SNP,SNVindel,exonic,GJA5,NA,synonymous SNV,"GJA5:NM_005266:exon2:c.C597T:p.S199S,GJA5:NM_181703:exon2:c.C597T:p.S199S",NA,NA,NA,NA,NA,NA
chr1,149885136,149885136,C,T,R007_S,SV2A,Missense_Mutation,NM_001328674,exon2,c.G257A,p.G86D,SNP,SNVindel,exonic,SV2A,NA,nonsynonymous SNV,"SV2A:NM_001328674:exon2:c.G257A:p.G86D,SV2A:NM_001328675:exon2:c.G257A:p.G86D,SV2A:NM_014849:exon2:c.G257A:p.G86D",D,D,D,T,D,T
chr1,150049003,150049003,G,A,R007_S,VPS45,Missense_Mutation,NM_001279354,exon5,c.G271A,p.G91S,SNP,SNVindel,exonic,VPS45,NA,nonsynonymous SNV,"VPS45:NM_001279354:exon5:c.G271A:p.G91S,VPS45:NM_007259:exon5:c.G379A:p.G127S",D,D,D,T,N,T
chr1,150131342,150131342,G,A,R007_S,PLEKHO1,Missense_Mutation,NM_001304723,exon5,c.G338A,p.R113H,SNP,SNVindel,exonic,PLEKHO1,NA,nonsynonymous SNV,"PLEKHO1:NM_001304723:exon5:c.G338A:p.R113H,PLEKHO1:NM_001304724:exon5:c.G305A:p.R102H,PLEKHO1:NM_001304722:exon6:c.G338A:p.R113H,PLEKHO1:NM_016274:exon6:c.G854A:p.R285H",T,N,N,T,N,T
chr1,150484022,150484022,G,T,R007_S,ECM1,Silent,NM_001202858,exon7,c.G879T,p.R293R,SNP,SNVindel,exonic,ECM1,NA,synonymous SNV,"ECM1:NM_001202858:exon7:c.G879T:p.R293R,ECM1:NM_004425:exon7:c.G798T:p.R266R",NA,NA,NA,NA,NA,NA
chr1,150778450,150778450,G,A,R007_S,CTSK,Missense_Mutation,NM_000396,exon4,c.C286T,p.P96S,SNP,SNVindel,exonic,CTSK,NA,nonsynonymous SNV,CTSK:NM_000396:exon4:c.C286T:p.P96S,T,N,D,D,D,D
chr1,150933572,150933572,G,A,R007_S,SETDB1,Missense_Mutation,NM_001145415,exon16,c.G3034A,p.G1012S,SNP,SNVindel,exonic,SETDB1,NA,nonsynonymous SNV,"SETDB1:NM_001145415:exon16:c.G3034A:p.G1012S,SETDB1:NM_001366417:exon16:c.G3037A:p.G1013S,SETDB1:NM_001366418:exon16:c.G3037A:p.G1013S,SETDB1:NM_012432:exon16:c.G3034A:p.G1012S",D,N,N,D,N,T
chr1,150974992,150974992,G,A,R007_S,MINDY1,Silent,NM_001163258,exon3,c.C246T,p.H82H,SNP,SNVindel,exonic,MINDY1,NA,synonymous SNV,"MINDY1:NM_001163258:exon3:c.C246T:p.H82H,MINDY1:NM_001319998:exon3:c.C102T:p.H34H,MINDY1:NM_018379:exon3:c.C102T:p.H34H",NA,NA,NA,NA,NA,NA
chr1,151110196,151110196,C,T,R007_S,SEMA6C,Silent,NM_001178062,exon9,c.G627A,p.R209R,SNP,SNVindel,exonic,SEMA6C,NA,synonymous SNV,"SEMA6C:NM_001178062:exon9:c.G627A:p.R209R,SEMA6C:NM_001178061:exon10:c.G747A:p.R249R,SEMA6C:NM_030913:exon10:c.G747A:p.R249R",NA,NA,NA,NA,NA,NA
chr1,151338293,151338293,G,A,R007_S,SELENBP1,Silent,NM_001258288,exon7,c.C687T,p.I229I,SNP,SNVindel,exonic,SELENBP1,NA,synonymous SNV,"SELENBP1:NM_001258288:exon7:c.C687T:p.I229I,SELENBP1:NM_001258289:exon8:c.C999T:p.I333I,SELENBP1:NM_003944:exon8:c.C873T:p.I291I",NA,NA,NA,NA,NA,NA
chr1,151342299,151342299,C,T,R007_S,SELENBP1,Missense_Mutation,NM_001258289,exon2,c.G77A,p.G26E,SNP,SNVindel,exonic,SELENBP1,NA,nonsynonymous SNV,SELENBP1:NM_001258289:exon2:c.G77A:p.G26E,D,.,N,.,N,T
chr1,151681528,151681528,G,A,R007_S,CELF3,Silent,NM_001172648,exon5,c.C291T,p.T97T,SNP,SNVindel,exonic,CELF3,NA,synonymous SNV,"CELF3:NM_001172648:exon5:c.C291T:p.T97T,CELF3:NM_001172649:exon5:c.C432T:p.T144T,CELF3:NM_001291106:exon5:c.C432T:p.T144T,CELF3:NM_001291107:exon5:c.C429T:p.T143T,CELF3:NM_007185:exon5:c.C432T:p.T144T",NA,NA,NA,NA,NA,NA
chr1,152058806,152058806,C,T,R007_S,TCHHL1,Missense_Mutation,NM_001008536,exon3,c.G1352A,p.G451E,SNP,SNVindel,exonic,TCHHL1,NA,nonsynonymous SNV,TCHHL1:NM_001008536:exon3:c.G1352A:p.G451E,T,N,N,T,N,T
chr1,152083156,152083156,G,A,R007_S,TCHH,Missense_Mutation,NM_007113,exon3,c.C2537T,p.A846V,SNP,SNVindel,exonic,TCHH,NA,nonsynonymous SNV,TCHH:NM_007113:exon3:c.C2537T:p.A846V,D,.,N,T,N,T
chr1,152129324,152129324,G,A,R007_S,RPTN,Missense_Mutation,NM_001122965,exon3,c.C251T,p.A84V,SNP,SNVindel,exonic,RPTN,NA,nonsynonymous SNV,RPTN:NM_001122965:exon3:c.C251T:p.A84V,D,.,N,T,D,T
chr1,152192589,152192589,G,A,R007_S,HRNR,Nonsense_Mutation,NM_001009931,exon3,c.C1516T,p.R506X,SNP,SNVindel,exonic,HRNR,NA,stopgain,HRNR:NM_001009931:exon3:c.C1516T:p.R506X,.,.,D,.,.,.
chr1,152285205,152285205,G,A,R007_S,FLG,Silent,NM_002016,exon3,c.C2157T,p.S719S,SNP,SNVindel,exonic,FLG,NA,synonymous SNV,FLG:NM_002016:exon3:c.C2157T:p.S719S,NA,NA,NA,NA,NA,NA
chr1,152484027,152484027,G,A,R007_S,LCE5A,Missense_Mutation,NM_178438,exon2,c.G17A,p.S6N,SNP,SNVindel,exonic,LCE5A,NA,nonsynonymous SNV,LCE5A:NM_178438:exon2:c.G17A:p.S6N,D,.,N,T,N,T
chr1,152538636,152538636,G,A,R007_S,LCE3E,Missense_Mutation,NM_178435,exon2,c.C49T,p.P17S,SNP,SNVindel,exonic,LCE3E,NA,nonsynonymous SNV,LCE3E:NM_178435:exon2:c.C49T:p.P17S,D,.,N,T,D,T
chr1,152785136,152785136,G,A,R007_S,LCE1B,Missense_Mutation,NM_178349,exon1,c.G214A,p.G72R,SNP,SNVindel,exonic,LCE1B,NA,nonsynonymous SNV,LCE1B:NM_178349:exon1:c.G214A:p.G72R,.,N,N,T,D,T
chr1,153782750,153782750,C,T,R007_S,GATAD2B,Missense_Mutation,NM_020699,exon11,c.G1685A,p.G562E,SNP,SNVindel,exonic,GATAD2B,NA,nonsynonymous SNV,GATAD2B:NM_020699:exon11:c.G1685A:p.G562E,T,N,D,T,N,T
chr1,153935116,153935116,C,T,R007_S,SLC39A1,Missense_Mutation,NM_001271957,exon2,c.G76A,p.G26R,SNP,SNVindel,exonic,SLC39A1,NA,nonsynonymous SNV,"SLC39A1:NM_001271957:exon2:c.G76A:p.G26R,SLC39A1:NM_001271958:exon2:c.G76A:p.G26R,SLC39A1:NM_001271959:exon2:c.G76A:p.G26R,SLC39A1:NM_001271961:exon2:c.G76A:p.G26R,SLC39A1:NM_001271960:exon3:c.G76A:p.G26R,SLC39A1:NM_014437:exon3:c.G76A:p.G26R",D,N,D,T,N,T
chr1,154172002,154172002,G,A,R007_S,C1orf189,Silent,NM_001010979,exon4,c.C207T,p.V69V,SNP,SNVindel,exonic,C1orf189,NA,synonymous SNV,C1orf189:NM_001010979:exon4:c.C207T:p.V69V,NA,NA,NA,NA,NA,NA
chr1,154408571,154408571,G,A,R007_S,IL6R,Missense_Mutation,NM_000565,exon6,c.G934A,p.G312S,SNP,SNVindel,exonic,IL6R,NA,nonsynonymous SNV,"IL6R:NM_000565:exon6:c.G934A:p.G312S,IL6R:NM_001206866:exon6:c.G934A:p.G312S,IL6R:NM_181359:exon6:c.G934A:p.G312S",D,N,N,T,D,T
chr1,154543855,154543855,G,A,R007_S,CHRNB2,Missense_Mutation,NM_000748,exon5,c.G556A,p.V186M,SNP,SNVindel,exonic,CHRNB2,NA,nonsynonymous SNV,CHRNB2:NM_000748:exon5:c.G556A:p.V186M,T,D,D,T,N,T
chr1,154544176,154544176,G,A,R007_S,CHRNB2,Missense_Mutation,NM_000748,exon5,c.G877A,p.D293N,SNP,SNVindel,exonic,CHRNB2,NA,nonsynonymous SNV,CHRNB2:NM_000748:exon5:c.G877A:p.D293N,T,D,D,D,N,T
chr1,154918210,154918210,C,T,R007_S,PBXIP1,Missense_Mutation,NM_001317735,exon7,c.G1475A,p.G492D,SNP,SNVindel,exonic,PBXIP1,NA,nonsynonymous SNV,"PBXIP1:NM_001317735:exon7:c.G1475A:p.G492D,PBXIP1:NM_001317734:exon9:c.G1853A:p.G618D,PBXIP1:NM_020524:exon10:c.G1940A:p.G647D",D,D,D,T,D,T
chr1,154918739,154918739,C,T,R007_S,PBXIP1,Missense_Mutation,NM_001317735,exon7,c.G946A,p.E316K,SNP,SNVindel,exonic,PBXIP1,NA,nonsynonymous SNV,"PBXIP1:NM_001317735:exon7:c.G946A:p.E316K,PBXIP1:NM_001317734:exon9:c.G1324A:p.E442K,PBXIP1:NM_020524:exon10:c.G1411A:p.E471K",T,N,D,T,N,T
chr1,154995911,154995911,G,A,R007_S,DCST2,Silent,NM_144622,exon13,c.C1893T,p.F631F,SNP,SNVindel,exonic,DCST2,NA,synonymous SNV,DCST2:NM_144622:exon13:c.C1893T:p.F631F,NA,NA,NA,NA,NA,NA
chr1,155006538,155006538,G,A,R007_S,DCST1,Missense_Mutation,NM_001143687,exon2,c.G26A,p.G9D,SNP,SNVindel,exonic,DCST1,NA,nonsynonymous SNV,"DCST1:NM_001143687:exon2:c.G26A:p.G9D,DCST1:NM_152494:exon2:c.G26A:p.G9D",T,N,N,T,N,T
chr1,155031206,155031206,C,T,R007_S,ADAM15,Silent,NM_001261464,exon16,c.C1968T,p.C656C,SNP,SNVindel,exonic,ADAM15,NA,synonymous SNV,"ADAM15:NM_001261464:exon16:c.C1968T:p.C656C,ADAM15:NM_001261465:exon16:c.C1938T:p.C646C,ADAM15:NM_003815:exon16:c.C1938T:p.C646C,ADAM15:NM_207191:exon16:c.C1938T:p.C646C,ADAM15:NM_207194:exon16:c.C1938T:p.C646C,ADAM15:NM_207195:exon16:c.C1938T:p.C646C,ADAM15:NM_207196:exon16:c.C1938T:p.C646C,ADAM15:NM_207197:exon16:c.C1938T:p.C646C",NA,NA,NA,NA,NA,NA
chr1,155041405,155041405,C,T,R007_S,EFNA4,Silent,NM_005227,exon4,c.C546T,p.S182S,SNP,SNVindel,exonic,EFNA4,NA,synonymous SNV,EFNA4:NM_005227:exon4:c.C546T:p.S182S,NA,NA,NA,NA,NA,NA
chr1,155178755,155178755,G,A,R007_S,MTX1,Missense_Mutation,NM_002455,exon1,c.G160A,p.G54S,SNP,SNVindel,exonic,MTX1,NA,nonsynonymous SNV,"MTX1:NM_002455:exon1:c.G160A:p.G54S,MTX1:NM_198883:exon1:c.G160A:p.G54S",D,N,N,T,N,T
chr1,155228666,155228666,G,A,R007_S,SCAMP3,Silent,NM_052837,exon4,c.C390T,p.I130I,SNP,SNVindel,exonic,SCAMP3,NA,synonymous SNV,"SCAMP3:NM_052837:exon4:c.C390T:p.I130I,SCAMP3:NM_005698:exon5:c.C468T:p.I156I",NA,NA,NA,NA,NA,NA
chr1,155252481,155252481,C,T,R007_S,HCN3,Silent,NM_020897,exon2,c.C558T,p.I186I,SNP,SNVindel,exonic,HCN3,NA,synonymous SNV,HCN3:NM_020897:exon2:c.C558T:p.I186I,NA,NA,NA,NA,NA,NA
chr1,155279631,155279631,C,T,R007_S,FDPS,Silent,NM_001135821,exon2,c.C51T,p.A17A,SNP,SNVindel,exonic,FDPS,NA,synonymous SNV,"FDPS:NM_001135821:exon2:c.C51T:p.A17A,FDPS:NM_002004:exon2:c.C51T:p.A17A",NA,NA,NA,NA,NA,NA
chr1,155292390,155292390,G,A,R007_S,RUSC1,Missense_Mutation,NM_001105203,exon2,c.G826A,p.G276S,SNP,SNVindel,exonic,RUSC1,NA,nonsynonymous SNV,"RUSC1:NM_001105203:exon2:c.G826A:p.G276S,RUSC1:NM_001105204:exon2:c.G826A:p.G276S",T,N,N,T,N,T
chr1,155408341,155408341,C,T,R007_S,ASH1L,Missense_Mutation,NM_001366177,exon5,c.G5605A,p.A1869T,SNP,SNVindel,exonic,ASH1L,NA,nonsynonymous SNV,"ASH1L:NM_001366177:exon5:c.G5605A:p.A1869T,ASH1L:NM_018489:exon5:c.G5605A:p.A1869T",T,D,D,D,N,T
chr1,155491252,155491252,C,T,R007_S,ASH1L,Missense_Mutation,NM_001366177,exon2,c.G59A,p.R20K,SNP,SNVindel,exonic,ASH1L,NA,nonsynonymous SNV,"ASH1L:NM_001366177:exon2:c.G59A:p.R20K,ASH1L:NM_018489:exon2:c.G59A:p.R20K",T,D,N,D,N,T
chr1,155649250,155649250,C,T,R007_S,YY1AP1,Silent,NM_001198899,exon1,c.G42A,p.E14E,SNP,SNVindel,exonic,YY1AP1,NA,synonymous SNV,"YY1AP1:NM_001198899:exon1:c.G42A:p.E14E,YY1AP1:NM_001198900:exon3:c.G42A:p.E14E,YY1AP1:NM_001198901:exon3:c.G75A:p.E25E,YY1AP1:NM_001198902:exon3:c.G75A:p.E25E,YY1AP1:NM_001198903:exon3:c.G489A:p.E163E,YY1AP1:NM_001198904:exon3:c.G489A:p.E163E,YY1AP1:NM_001198905:exon4:c.G75A:p.E25E,YY1AP1:NM_001198906:exon4:c.G273A:p.E91E,YY1AP1:NM_139118:exon4:c.G273A:p.E91E,YY1AP1:NM_139119:exon4:c.G75A:p.E25E,YY1AP1:NM_018253:exon5:c.G42A:p.E14E",NA,NA,NA,NA,NA,NA
chr1,156131226,156131226,C,T,R007_S,SEMA4A,Silent,NM_001193302,exon7,c.C504T,p.P168P,SNP,SNVindel,exonic,SEMA4A,NA,synonymous SNV,"SEMA4A:NM_001193302:exon7:c.C504T:p.P168P,SEMA4A:NM_001370567:exon8:c.C900T:p.P300P,SEMA4A:NM_001370568:exon8:c.C603T:p.P201P,SEMA4A:NM_001370569:exon8:c.C393T:p.P131P,SEMA4A:NM_001193301:exon9:c.C900T:p.P300P,SEMA4A:NM_022367:exon9:c.C900T:p.P300P,SEMA4A:NM_001193300:exon10:c.C900T:p.P300P,SEMA4A:NM_001370571:exon10:c.C393T:p.P131P",NA,NA,NA,NA,NA,NA
chr1,156142698,156142698,C,T,R007_S,SEMA4A,Missense_Mutation,NM_001193302,exon9,c.C820T,p.P274S,SNP,SNVindel,exonic,SEMA4A,NA,nonsynonymous SNV,"SEMA4A:NM_001193302:exon9:c.C820T:p.P274S,SEMA4A:NM_001370567:exon10:c.C1216T:p.P406S,SEMA4A:NM_001370568:exon10:c.C919T:p.P307S,SEMA4A:NM_001370569:exon10:c.C709T:p.P237S,SEMA4A:NM_001193301:exon11:c.C1216T:p.P406S,SEMA4A:NM_022367:exon11:c.C1216T:p.P406S,SEMA4A:NM_001193300:exon12:c.C1216T:p.P406S,SEMA4A:NM_001370571:exon12:c.C709T:p.P237S",T,D,D,T,D,T
chr1,156146253,156146253,C,T,R007_S,SEMA4A,Missense_Mutation,NM_001193302,exon13,c.C1355T,p.S452L,SNP,SNVindel,exonic,SEMA4A,NA,nonsynonymous SNV,"SEMA4A:NM_001193302:exon13:c.C1355T:p.S452L,SEMA4A:NM_001370567:exon14:c.C1751T:p.S584L,SEMA4A:NM_001370568:exon14:c.C1454T:p.S485L,SEMA4A:NM_001370569:exon14:c.C1244T:p.S415L,SEMA4A:NM_001193301:exon15:c.C1751T:p.S584L,SEMA4A:NM_022367:exon15:c.C1751T:p.S584L,SEMA4A:NM_001193300:exon16:c.C1751T:p.S584L,SEMA4A:NM_001370571:exon16:c.C1244T:p.S415L",D,D,D,T,D,T
chr1,156146707,156146707,C,T,R007_S,SEMA4A,Silent,NM_001193302,exon13,c.C1809T,p.H603H,SNP,SNVindel,exonic,SEMA4A,NA,synonymous SNV,"SEMA4A:NM_001193302:exon13:c.C1809T:p.H603H,SEMA4A:NM_001370567:exon14:c.C2205T:p.H735H,SEMA4A:NM_001370568:exon14:c.C1908T:p.H636H,SEMA4A:NM_001370569:exon14:c.C1698T:p.H566H,SEMA4A:NM_001193301:exon15:c.C2205T:p.H735H,SEMA4A:NM_022367:exon15:c.C2205T:p.H735H,SEMA4A:NM_001193300:exon16:c.C2205T:p.H735H,SEMA4A:NM_001370571:exon16:c.C1698T:p.H566H",NA,NA,NA,NA,NA,NA
chr1,156255374,156255374,C,T,R007_S,TMEM79,Silent,NM_032323,exon2,c.C357T,p.N119N,SNP,SNVindel,exonic,TMEM79,NA,synonymous SNV,TMEM79:NM_032323:exon2:c.C357T:p.N119N,NA,NA,NA,NA,NA,NA
chr1,156265391,156265391,G,A,R007_S,GLMP,Missense_Mutation,NM_001256604,exon1,c.C46T,p.P16S,SNP,SNVindel,exonic,GLMP,NA,nonsynonymous SNV,"GLMP:NM_001256604:exon1:c.C46T:p.P16S,GLMP:NM_001256605:exon1:c.C46T:p.P16S,GLMP:NM_001256608:exon1:c.C46T:p.P16S,GLMP:NM_144580:exon1:c.C46T:p.P16S",T,N,N,T,N,T
chr1,156893757,156893757,C,T,R007_S,LRRC71,Silent,NM_144702,exon2,c.C177T,p.S59S,SNP,SNVindel,exonic,LRRC71,NA,synonymous SNV,LRRC71:NM_144702:exon2:c.C177T:p.S59S,NA,NA,NA,NA,NA,NA
chr1,156915886,156915886,C,T,R007_S,ARHGEF11,Silent,NM_014784,exon28,c.G2643A,p.R881R,SNP,SNVindel,exonic,ARHGEF11,NA,synonymous SNV,"ARHGEF11:NM_014784:exon28:c.G2643A:p.R881R,ARHGEF11:NM_198236:exon29:c.G2763A:p.R921R",NA,NA,NA,NA,NA,NA
chr1,157559069,157559069,G,A,R007_S,FCRL4,Missense_Mutation,NM_031282,exon3,c.C232T,p.R78W,SNP,SNVindel,exonic,FCRL4,NA,nonsynonymous SNV,FCRL4:NM_031282:exon3:c.C232T:p.R78W,D,N,N,T,D,T
chr1,157773803,157773803,G,A,R007_S,FCRL1,Nonsense_Mutation,NM_001159397,exon3,c.C151T,p.Q51X,SNP,SNVindel,exonic,FCRL1,NA,stopgain,"FCRL1:NM_001159397:exon3:c.C151T:p.Q51X,FCRL1:NM_001159398:exon3:c.C151T:p.Q51X,FCRL1:NM_052938:exon3:c.C151T:p.Q51X",.,N,A,.,.,.
chr1,157805873,157805873,C,T,R007_S,CD5L,Missense_Mutation,NM_001347698,exon3,c.G128A,p.G43D,SNP,SNVindel,exonic,CD5L,NA,nonsynonymous SNV,"CD5L:NM_001347698:exon3:c.G128A:p.G43D,CD5L:NM_005894:exon3:c.G128A:p.G43D",D,D,N,T,D,T
chr1,158517152,158517152,G,A,R007_S,OR6Y1,Silent,NM_001005189,exon1,c.C744T,p.S248S,SNP,SNVindel,exonic,OR6Y1,NA,synonymous SNV,OR6Y1:NM_001005189:exon1:c.C744T:p.S248S,NA,NA,NA,NA,NA,NA
chr1,158576786,158576786,C,T,R007_S,OR10Z1,Silent,NM_001004478,exon1,c.C558T,p.S186S,SNP,SNVindel,exonic,OR10Z1,NA,synonymous SNV,OR10Z1:NM_001004478:exon1:c.C558T:p.S186S,NA,NA,NA,NA,NA,NA
chr1,158746540,158746540,C,T,R007_S,OR6N2,Missense_Mutation,NM_001005278,exon1,c.G886A,p.E296K,SNP,SNVindel,exonic,OR6N2,NA,nonsynonymous SNV,OR6N2:NM_001005278:exon1:c.G886A:p.E296K,D,N,D,T,D,T
chr1,158746935,158746935,G,A,R007_S,OR6N2,Missense_Mutation,NM_001005278,exon1,c.C491T,p.S164F,SNP,SNVindel,exonic,OR6N2,NA,nonsynonymous SNV,OR6N2:NM_001005278:exon1:c.C491T:p.S164F,D,N,N,T,D,T
chr1,158812196,158812196,G,A,R007_S,MNDA,Missense_Mutation,NM_002432,exon2,c.G253A,p.E85K,SNP,SNVindel,exonic,MNDA,NA,nonsynonymous SNV,MNDA:NM_002432:exon2:c.G253A:p.E85K,D,N,N,T,D,T
chr1,158988319,158988319,C,T,R007_S,IFI16,Missense_Mutation,NM_001206567,exon4,c.C682T,p.P228S,SNP,SNVindel,exonic,IFI16,NA,nonsynonymous SNV,"IFI16:NM_001206567:exon4:c.C682T:p.P228S,IFI16:NM_005531:exon5:c.C850T:p.P284S,IFI16:NM_001364867:exon6:c.C850T:p.P284S",D,.,N,T,D,T
chr1,159035741,159035741,G,A,R007_S,AIM2,Missense_Mutation,NM_001348247,exon3,c.C460T,p.P154S,SNP,SNVindel,exonic,AIM2,NA,nonsynonymous SNV,"AIM2:NM_001348247:exon3:c.C460T:p.P154S,AIM2:NM_004833:exon4:c.C775T:p.P259S",T,.,N,T,N,T
chr1,159175503,159175503,C,T,R007_S,ACKR1,Missense_Mutation,NM_001122951,exon2,c.C280T,p.L94F,SNP,SNVindel,exonic,ACKR1,NA,nonsynonymous SNV,"ACKR1:NM_001122951:exon2:c.C280T:p.L94F,ACKR1:NM_002036:exon2:c.C274T:p.L92F",D,U,N,T,D,T
chr1,159402282,159402282,G,A,R007_S,OR10J4,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,OR10J4,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,159558157,159558157,G,A,R007_S,APCS,Missense_Mutation,NM_001639,exon2,c.G331A,p.V111M,SNP,SNVindel,exonic,APCS,NA,nonsynonymous SNV,APCS:NM_001639:exon2:c.G331A:p.V111M,T,N,N,T,N,T
chr1,159683534,159683534,G,A,R007_S,CRP,Silent,NM_000567,exon2,c.C456T,p.I152I,SNP,SNVindel,exonic,CRP,NA,synonymous SNV,"CRP:NM_000567:exon2:c.C456T:p.I152I,CRP:NM_001329057:exon2:c.C456T:p.I152I",NA,NA,NA,NA,NA,NA
chr1,160062991,160062991,C,T,R007_S,IGSF8,Nonsense_Mutation,NM_001320247,exon4,c.G1035A,p.W345X,SNP,SNVindel,exonic,IGSF8,NA,stopgain,"IGSF8:NM_001320247:exon4:c.G1035A:p.W345X,IGSF8:NM_052868:exon4:c.G1035A:p.W345X,IGSF8:NM_001206665:exon5:c.G1035A:p.W345X",.,N,A,.,.,.
chr1,160305092,160305092,C,T,R007_S,COPA,Silent,NM_001098398,exon4,c.G249A,p.R83R,SNP,SNVindel,exonic,COPA,NA,synonymous SNV,"COPA:NM_001098398:exon4:c.G249A:p.R83R,COPA:NM_004371:exon4:c.G249A:p.R83R",NA,NA,NA,NA,NA,NA
chr1,160321525,160321525,G,A,R007_S,NCSTN,Missense_Mutation,NM_001349729,exon7,c.G773A,p.S258N,SNP,SNVindel,exonic,NCSTN,NA,nonsynonymous SNV,"NCSTN:NM_001349729:exon7:c.G773A:p.S258N,NCSTN:NM_015331:exon7:c.G773A:p.S258N,NCSTN:NM_001290184:exon8:c.G713A:p.S238N",T,D,D,D,N,T
chr1,160388795,160388795,G,A,R007_S,VANGL2,Missense_Mutation,NM_020335,exon4,c.G196A,p.D66N,SNP,SNVindel,exonic,VANGL2,NA,nonsynonymous SNV,VANGL2:NM_020335:exon4:c.G196A:p.D66N,D,D,D,D,D,D
chr1,160389274,160389274,C,T,R007_S,VANGL2,Silent,NM_020335,exon4,c.C675T,p.A225A,SNP,SNVindel,exonic,VANGL2,NA,synonymous SNV,VANGL2:NM_020335:exon4:c.C675T:p.A225A,NA,NA,NA,NA,NA,NA
chr1,161042511,161042511,G,A,R007_S,NECTIN4,Silent,NM_030916,exon9,c.C1473T,p.T491T,SNP,SNVindel,exonic,NECTIN4,NA,synonymous SNV,NECTIN4:NM_030916:exon9:c.C1473T:p.T491T,NA,NA,NA,NA,NA,NA
chr1,161192280,161192280,G,A,R007_S,APOA2,Missense_Mutation,NM_001643,exon4,c.C218T,p.T73I,SNP,SNVindel,exonic,APOA2,NA,nonsynonymous SNV,APOA2:NM_001643:exon4:c.C218T:p.T73I,T,N,N,.,N,T
chr1,161202656,161202656,G,A,R007_S,NR1I3,Silent,NM_001077470,exon4,c.C402T,p.D134D,SNP,SNVindel,exonic,NR1I3,NA,synonymous SNV,"NR1I3:NM_001077470:exon4:c.C402T:p.D134D,NR1I3:NM_001077472:exon4:c.C402T:p.D134D,NR1I3:NM_001077473:exon4:c.C402T:p.D134D,NR1I3:NM_001077475:exon4:c.C402T:p.D134D,NR1I3:NM_001077476:exon4:c.C402T:p.D134D,NR1I3:NM_001077477:exon4:c.C402T:p.D134D,NR1I3:NM_001077479:exon4:c.C402T:p.D134D,NR1I3:NM_001077469:exon5:c.C489T:p.D163D,NR1I3:NM_001077471:exon5:c.C489T:p.D163D,NR1I3:NM_001077474:exon5:c.C489T:p.D163D,NR1I3:NM_001077478:exon5:c.C489T:p.D163D,NR1I3:NM_001077480:exon5:c.C489T:p.D163D,NR1I3:NM_001077481:exon5:c.C489T:p.D163D,NR1I3:NM_001077482:exon5:c.C489T:p.D163D,NR1I3:NM_005122:exon5:c.C489T:p.D163D",.,.,D,.,.,.
chr1,161495059,161495059,G,A,R007_S,HSPA6,Missense_Mutation,NM_002155,exon1,c.G611A,p.G204E,SNP,SNVindel,exonic,HSPA6,NA,nonsynonymous SNV,HSPA6:NM_002155:exon1:c.G611A:p.G204E,D,U,D,T,D,T
chr1,161495851,161495851,C,T,R007_S,HSPA6,Missense_Mutation,NM_002155,exon1,c.C1403T,p.P468L,SNP,SNVindel,exonic,HSPA6,NA,nonsynonymous SNV,HSPA6:NM_002155:exon1:c.C1403T:p.P468L,D,U,D,T,D,T
chr1,161681179,161681179,C,T,R007_S,FCRLA,Silent,NM_001366196,exon3,c.C414T,p.S138S,SNP,SNVindel,exonic,FCRLA,NA,synonymous SNV,"FCRLA:NM_001366196:exon3:c.C414T:p.S138S,FCRLA:NM_032738:exon3:c.C414T:p.S138S,FCRLA:NM_001184866:exon4:c.C432T:p.S144S,FCRLA:NM_001366195:exon4:c.C429T:p.S143S",NA,NA,NA,NA,NA,NA
chr1,161928346,161928346,G,A,R007_S,ATF6,Missense_Mutation,NM_007348,exon16,c.G1915A,p.D639N,SNP,SNVindel,exonic,ATF6,NA,nonsynonymous SNV,ATF6:NM_007348:exon16:c.G1915A:p.D639N,D,N,D,T,N,T
chr1,162469933,162469933,G,A,R007_S,UHMK1,Missense_Mutation,NM_001184763,exon2,c.G235A,p.G79S,SNP,SNVindel,exonic,UHMK1,NA,nonsynonymous SNV,"UHMK1:NM_001184763:exon2:c.G235A:p.G79S,UHMK1:NM_144624:exon2:c.G457A:p.G153S,UHMK1:NM_175866:exon2:c.G457A:p.G153S",D,D,D,T,N,T
chr1,162825430,162825430,C,T,R007_S,CCDC190,Silent,NM_178550,exon3,c.G306A,p.K102K,SNP,SNVindel,exonic,CCDC190,NA,synonymous SNV,CCDC190:NM_178550:exon3:c.G306A:p.K102K,NA,NA,NA,NA,NA,NA
chr1,165649856,165649856,G,A,R007_S,ALDH9A1,Silent,NM_000696,exon5,c.C657T,p.I219I,SNP,SNVindel,exonic,ALDH9A1,NA,synonymous SNV,"ALDH9A1:NM_000696:exon5:c.C657T:p.I219I,ALDH9A1:NM_001365774:exon5:c.C375T:p.I125I",NA,NA,NA,NA,NA,NA
chr1,166927029,166927029,C,T,R007_S,ILDR2,Missense_Mutation,NM_199351,exon2,c.G356A,p.G119D,SNP,SNVindel,exonic,ILDR2,NA,nonsynonymous SNV,ILDR2:NM_199351:exon2:c.G356A:p.G119D,D,D,D,T,D,T
chr1,167096032,167096032,G,A,R007_S,DUSP27,Missense_Mutation,NM_001080426,exon6,c.G1664A,p.G555E,SNP,SNVindel,exonic,DUSP27,NA,nonsynonymous SNV,DUSP27:NM_001080426:exon6:c.G1664A:p.G555E,D,D,D,T,N,T
chr1,167653172,167653172,C,T,R007_S,RCSD1,Silent,NM_001322923,exon2,c.C42T,p.N14N,SNP,SNVindel,exonic,RCSD1,NA,synonymous SNV,"RCSD1:NM_001322923:exon2:c.C42T:p.N14N,RCSD1:NM_001322924:exon2:c.C42T:p.N14N,RCSD1:NM_052862:exon2:c.C42T:p.N14N",NA,NA,NA,NA,NA,NA
chr1,169346268,169346268,C,T,R007_S,BLZF1,Silent,NM_001320972,exon3,c.C519T,p.T173T,SNP,SNVindel,exonic,BLZF1,NA,synonymous SNV,BLZF1:NM_001320972:exon3:c.C519T:p.T173T,NA,NA,NA,NA,NA,NA
chr1,169439383,169439383,C,T,R007_S,SLC19A2,Nonsense_Mutation,NM_001319667,exon2,c.G246A,p.W82X,SNP,SNVindel,exonic,SLC19A2,NA,stopgain,"SLC19A2:NM_001319667:exon2:c.G246A:p.W82X,SLC19A2:NM_006996:exon3:c.G849A:p.W283X",.,D,A,.,.,.
chr1,169511891,169511891,G,A,R007_S,F5,Missense_Mutation,NM_000130,exon13,c.C2437T,p.L813F,SNP,SNVindel,exonic,F5,NA,nonsynonymous SNV,F5:NM_000130:exon13:c.C2437T:p.L813F,T,N,N,T,N,T
chr1,169576249,169576249,C,T,R007_S,SELP,Missense_Mutation,NM_003005,exon9,c.G1457A,p.G486E,SNP,SNVindel,exonic,SELP,NA,nonsynonymous SNV,SELP:NM_003005:exon9:c.G1457A:p.G486E,D,N,N,T,D,T
chr1,169588441,169588441,G,A,R007_S,SELP,Missense_Mutation,NM_003005,exon2,c.C20T,p.A7V,SNP,SNVindel,exonic,SELP,NA,nonsynonymous SNV,SELP:NM_003005:exon2:c.C20T:p.A7V,D,N,N,T,N,T
chr1,169806237,169806237,G,A,R007_S,C1orf112,Missense_Mutation,NM_001366773,exon15,c.G740A,p.G247E,SNP,SNVindel,exonic,C1orf112,NA,nonsynonymous SNV,"C1orf112:NM_001366773:exon15:c.G740A:p.G247E,C1orf112:NM_001320048:exon16:c.G1304A:p.G435E,C1orf112:NM_001366768:exon16:c.G1622A:p.G541E,C1orf112:NM_001366772:exon16:c.G740A:p.G247E,C1orf112:NM_001363739:exon17:c.G740A:p.G247E,C1orf112:NM_001366769:exon17:c.G1883A:p.G628E,C1orf112:NM_001366770:exon17:c.G1883A:p.G628E,C1orf112:NM_001320047:exon18:c.G1709A:p.G570E,C1orf112:NM_001366771:exon18:c.G740A:p.G247E",T,N,D,T,N,T
chr1,170508689,170508689,G,A,R007_S,GORAB,Missense_Mutation,NM_001146039,exon2,c.G475A,p.E159K,SNP,SNVindel,exonic,GORAB,NA,nonsynonymous SNV,"GORAB:NM_001146039:exon2:c.G475A:p.E159K,GORAB:NM_152281:exon2:c.G475A:p.E159K",D,N,D,T,N,T
chr1,171484950,171484950,G,A,R007_S,PRRC2C,Missense_Mutation,NM_015172,exon5,c.G472A,p.E158K,SNP,SNVindel,exonic,PRRC2C,NA,nonsynonymous SNV,PRRC2C:NM_015172:exon5:c.G472A:p.E158K,T,N,D,T,N,T
chr1,171509189,171509189,G,A,R007_S,PRRC2C,Missense_Mutation,NM_015172,exon16,c.G2578A,p.A860T,SNP,SNVindel,exonic,PRRC2C,NA,nonsynonymous SNV,PRRC2C:NM_015172:exon16:c.G2578A:p.A860T,T,N,N,T,N,T
chr1,171509252,171509252,G,A,R007_S,PRRC2C,Missense_Mutation,NM_015172,exon16,c.G2641A,p.D881N,SNP,SNVindel,exonic,PRRC2C,NA,nonsynonymous SNV,PRRC2C:NM_015172:exon16:c.G2641A:p.D881N,D,N,D,T,N,T
chr1,171546680,171546680,C,T,R007_S,PRRC2C,Missense_Mutation,NM_015172,exon26,c.C7057T,p.P2353S,SNP,SNVindel,exonic,PRRC2C,NA,nonsynonymous SNV,PRRC2C:NM_015172:exon26:c.C7057T:p.P2353S,T,D,D,T,N,T
chr1,171753364,171753364,G,A,R007_S,EEF1AKNMT,Missense_Mutation,NM_014955,exon2,c.G380A,p.R127K,SNP,SNVindel,exonic,EEF1AKNMT,NA,nonsynonymous SNV,"EEF1AKNMT:NM_014955:exon2:c.G380A:p.R127K,EEF1AKNMT:NM_015935:exon2:c.G638A:p.R213K",T,D,D,T,N,T
chr1,171765860,171765860,C,T,R007_S,EEF1AKNMT,Silent,NM_001007239,exon8,c.C1596T,p.V532V,SNP,SNVindel,exonic,EEF1AKNMT,NA,synonymous SNV,"EEF1AKNMT:NM_001007239:exon8:c.C1596T:p.V532V,EEF1AKNMT:NM_014955:exon8:c.C1806T:p.V602V,EEF1AKNMT:NM_015935:exon8:c.C2064T:p.V688V",NA,NA,NA,NA,NA,NA
chr1,171958135,171958135,G,A,R007_S,DNM3,Missense_Mutation,NM_001136127,exon4,c.G436A,p.G146R,SNP,SNVindel,exonic,DNM3,NA,nonsynonymous SNV,"DNM3:NM_001136127:exon4:c.G436A:p.G146R,DNM3:NM_001278252:exon4:c.G436A:p.G146R,DNM3:NM_001350204:exon4:c.G436A:p.G146R,DNM3:NM_001350205:exon4:c.G436A:p.G146R,DNM3:NM_001350206:exon4:c.G436A:p.G146R,DNM3:NM_015569:exon4:c.G436A:p.G146R",D,D,D,D,D,D
chr1,172411092,172411092,G,A,R007_S,PIGC,Missense_Mutation,NM_002642,exon2,c.C671T,p.T224I,SNP,SNVindel,exonic,PIGC,NA,nonsynonymous SNV,"PIGC:NM_002642:exon2:c.C671T:p.T224I,PIGC:NM_153747:exon2:c.C671T:p.T224I",T,D,D,T,N,T
chr1,173822638,173822638,C,T,R007_S,DARS2,Missense_Mutation,NM_001365212,exon13,c.C1343T,p.S448L,SNP,SNVindel,exonic,DARS2,NA,nonsynonymous SNV,"DARS2:NM_001365212:exon13:c.C1343T:p.S448L,DARS2:NM_018122:exon14:c.C1496T:p.S499L",D,D,D,D,D,D
chr1,173931186,173931186,G,A,R007_S,RC3H1,Missense_Mutation,NM_001300850,exon11,c.C1879T,p.P627S,SNP,SNVindel,exonic,RC3H1,NA,nonsynonymous SNV,"RC3H1:NM_001300850:exon11:c.C1879T:p.P627S,RC3H1:NM_001300851:exon11:c.C1879T:p.P627S,RC3H1:NM_001300852:exon11:c.C1879T:p.P627S,RC3H1:NM_172071:exon11:c.C1879T:p.P627S",T,D,D,T,N,T
chr1,176675533,176675533,G,A,R007_S,PAPPA2,Missense_Mutation,NM_020318,exon10,c.G3404A,p.S1135N,SNP,SNVindel,exonic,PAPPA2,NA,nonsynonymous SNV,PAPPA2:NM_020318:exon10:c.G3404A:p.S1135N,T,N,N,T,N,T
chr1,177001748,177001748,G,A,R007_S,ASTN1,Missense_Mutation,NM_001286164,exon3,c.C709T,p.P237S,SNP,SNVindel,exonic,ASTN1,NA,nonsynonymous SNV,"ASTN1:NM_001286164:exon3:c.C709T:p.P237S,ASTN1:NM_001364856:exon3:c.C709T:p.P237S,ASTN1:NM_004319:exon3:c.C709T:p.P237S,ASTN1:NM_207108:exon3:c.C709T:p.P237S",D,D,D,T,D,T
chr1,178483870,178483870,G,A,R007_S,TEX35,Silent,NM_001170722,exon3,c.G150A,p.R50R,SNP,SNVindel,exonic,TEX35,NA,synonymous SNV,"TEX35:NM_001170722:exon3:c.G150A:p.R50R,TEX35:NM_001170723:exon3:c.G126A:p.R42R,TEX35:NM_001170724:exon3:c.G126A:p.R42R,TEX35:NM_032126:exon3:c.G126A:p.R42R",NA,NA,NA,NA,NA,NA
chr1,179057181,179057181,G,A,R007_S,TOR3A,Missense_Mutation,NM_022371,exon4,c.G775A,p.G259S,SNP,SNVindel,exonic,TOR3A,NA,nonsynonymous SNV,TOR3A:NM_022371:exon4:c.G775A:p.G259S,T,N,N,T,N,T
chr1,179064109,179064109,G,A,R007_S,TOR3A,Missense_Mutation,NM_022371,exon6,c.G950A,p.G317D,SNP,SNVindel,exonic,TOR3A,NA,nonsynonymous SNV,TOR3A:NM_022371:exon6:c.G950A:p.G317D,D,N,D,T,D,T
chr1,179815333,179815333,G,A,R007_S,TOR1AIP2,Missense_Mutation,NM_001349936,exon6,c.C1286T,p.S429F,SNP,SNVindel,exonic,TOR1AIP2,NA,nonsynonymous SNV,"TOR1AIP2:NM_001349936:exon6:c.C1286T:p.S429F,TOR1AIP2:NM_145034:exon6:c.C1286T:p.S429F,TOR1AIP2:NM_001199260:exon7:c.C1286T:p.S429F,TOR1AIP2:NM_001349934:exon7:c.C1286T:p.S429F,TOR1AIP2:NM_001349937:exon7:c.C1286T:p.S429F,TOR1AIP2:NM_001349935:exon8:c.C1286T:p.S429F",D,N,N,T,D,T
chr1,179965941,179965941,G,A,R007_S,CEP350,Missense_Mutation,NM_014810,exon6,c.G649A,p.A217T,SNP,SNVindel,exonic,CEP350,NA,nonsynonymous SNV,CEP350:NM_014810:exon6:c.G649A:p.A217T,T,N,N,T,N,T
chr1,180257530,180257530,C,T,R007_S,ACBD6,Missense_Mutation,NM_032360,exon8,c.G817A,p.V273M,SNP,SNVindel,exonic,ACBD6,NA,nonsynonymous SNV,ACBD6:NM_032360:exon8:c.G817A:p.V273M,T,N,N,T,N,T
chr1,181018340,181018340,G,A,R007_S,MR1,Missense_Mutation,NM_001194999,exon3,c.G220A,p.E74K,SNP,SNVindel,exonic,MR1,NA,nonsynonymous SNV,"MR1:NM_001194999:exon3:c.G220A:p.E74K,MR1:NM_001195000:exon3:c.G220A:p.E74K,MR1:NM_001195035:exon3:c.G220A:p.E74K,MR1:NM_001531:exon3:c.G220A:p.E74K,MR1:NM_001310213:exon4:c.G7A:p.E3K",T,N,N,T,N,T
chr1,181548257,181548257,G,A,R007_S,CACNA1E,Silent,NM_000721,exon5,c.G666A,p.L222L,SNP,SNVindel,exonic,CACNA1E,NA,synonymous SNV,"CACNA1E:NM_000721:exon5:c.G666A:p.L222L,CACNA1E:NM_001205293:exon5:c.G666A:p.L222L,CACNA1E:NM_001205294:exon5:c.G666A:p.L222L",NA,NA,NA,NA,NA,NA
chr1,182368925,182368925,C,T,R007_S,TEDDM1,Silent,NM_172000,exon1,c.G696A,p.K232K,SNP,SNVindel,exonic,TEDDM1,NA,synonymous SNV,TEDDM1:NM_172000:exon1:c.G696A:p.K232K,NA,NA,NA,NA,NA,NA
chr1,182848543,182848543,G,A,R007_S,DHX9,Missense_Mutation,NM_001357,exon21,c.G2510A,p.R837K,SNP,SNVindel,exonic,DHX9,NA,nonsynonymous SNV,DHX9:NM_001357:exon21:c.G2510A:p.R837K,T,D,D,T,N,T
chr1,182921944,182921944,C,T,R007_S,SHCBP1L,Missense_Mutation,NM_030933,exon1,c.G325A,p.V109I,SNP,SNVindel,exonic,SHCBP1L,NA,nonsynonymous SNV,SHCBP1L:NM_030933:exon1:c.G325A:p.V109I,T,N,N,T,N,T
chr1,183510218,183510218,G,A,R007_S,SMG7,Nonsense_Mutation,NM_001174061,exon12,c.G1269A,p.W423X,SNP,SNVindel,exonic,SMG7,NA,stopgain,"SMG7:NM_001174061:exon12:c.G1269A:p.W423X,SMG7:NM_001350222:exon13:c.G390A:p.W130X,SMG7:NM_173156:exon13:c.G1395A:p.W465X,SMG7:NM_201568:exon13:c.G1395A:p.W465X,SMG7:NM_201569:exon13:c.G1395A:p.W465X,SMG7:NM_001331007:exon14:c.G1482A:p.W494X,SMG7:NM_001350219:exon15:c.G1482A:p.W494X,SMG7:NM_001350220:exon15:c.G1482A:p.W494X,SMG7:NM_001350221:exon15:c.G1482A:p.W494X",.,D,A,.,.,.
chr1,183522173,183522173,G,A,R007_S,SMG7,Missense_Mutation,NM_201569,exon23,c.G3374A,p.S1125N,SNP,SNVindel,exonic,SMG7,NA,nonsynonymous SNV,SMG7:NM_201569:exon23:c.G3374A:p.S1125N,T,N,N,T,N,T
chr1,183539924,183539924,C,T,R007_S,NCF2,Silent,NM_001190789,exon4,c.G417A,p.L139L,SNP,SNVindel,exonic,NCF2,NA,synonymous SNV,"NCF2:NM_001190789:exon4:c.G417A:p.L139L,NCF2:NM_001190794:exon5:c.G525A:p.L175L,NCF2:NM_000433:exon6:c.G660A:p.L220L,NCF2:NM_001127651:exon7:c.G660A:p.L220L",NA,NA,NA,NA,NA,NA
chr1,186062739,186062739,G,A,R007_S,HMCN1,Silent,NM_031935,exon66,c.G10134A,p.K3378K,SNP,SNVindel,exonic,HMCN1,NA,synonymous SNV,HMCN1:NM_031935:exon66:c.G10134A:p.K3378K,NA,NA,NA,NA,NA,NA
chr1,196274391,196274391,G,A,R007_S,KCNT2,Silent,NM_001287820,exon20,c.C2346T,p.Y782Y,SNP,SNVindel,exonic,KCNT2,NA,synonymous SNV,"KCNT2:NM_001287820:exon20:c.C2346T:p.Y782Y,KCNT2:NM_001287819:exon21:c.C2496T:p.Y832Y,KCNT2:NM_198503:exon22:c.C2568T:p.Y856Y",NA,NA,NA,NA,NA,NA
chr1,196876549,196876549,C,T,R007_S,CFHR4,Silent,NM_001201550,exon5,c.C720T,p.C240C,SNP,SNVindel,exonic,CFHR4,NA,synonymous SNV,"CFHR4:NM_001201550:exon5:c.C720T:p.C240C,CFHR4:NM_001201551:exon5:c.C717T:p.C239C",NA,NA,NA,NA,NA,NA
chr1,200635354,200635354,G,A,R007_S,DDX59,Missense_Mutation,NM_001320182,exon1,c.C515T,p.P172L,SNP,SNVindel,exonic,DDX59,NA,nonsynonymous SNV,"DDX59:NM_001320182:exon1:c.C515T:p.P172L,DDX59:NM_001031725:exon2:c.C515T:p.P172L,DDX59:NM_001320181:exon2:c.C515T:p.P172L,DDX59:NM_001349799:exon2:c.C515T:p.P172L,DDX59:NM_001349800:exon2:c.C515T:p.P172L,DDX59:NM_001349801:exon2:c.C515T:p.P172L,DDX59:NM_001349802:exon2:c.C515T:p.P172L,DDX59:NM_001349803:exon2:c.C515T:p.P172L,DDX59:NM_001349804:exon2:c.C515T:p.P172L",D,N,D,T,D,T
chr1,201175755,201175755,G,A,R007_S,IGFN1,Silent,NM_001164586,exon12,c.G1734A,p.K578K,SNP,SNVindel,exonic,IGFN1,NA,synonymous SNV,IGFN1:NM_001164586:exon12:c.G1734A:p.K578K,NA,NA,NA,NA,NA,NA
chr1,201180725,201180725,G,A,R007_S,IGFN1,Missense_Mutation,NM_001164586,exon12,c.G6704A,p.G2235D,SNP,SNVindel,exonic,IGFN1,NA,nonsynonymous SNV,IGFN1:NM_001164586:exon12:c.G6704A:p.G2235D,T,.,N,D,N,T
chr1,201332516,201332516,C,T,R007_S,TNNT2,Missense_Mutation,NM_001001432,exon10,c.G463A,p.E155K,SNP,SNVindel,exonic,TNNT2,NA,nonsynonymous SNV,"TNNT2:NM_001001432:exon10:c.G463A:p.E155K,TNNT2:NM_001001430:exon11:c.G478A:p.E160K,TNNT2:NM_001001431:exon11:c.G478A:p.E160K,TNNT2:NM_001276346:exon11:c.G388A:p.E130K,TNNT2:NM_001276347:exon11:c.G478A:p.E160K,TNNT2:NM_000364:exon12:c.G508A:p.E170K,TNNT2:NM_001276345:exon12:c.G508A:p.E170K",D,D,D,D,D,D
chr1,201356057,201356057,C,T,R007_S,LAD1,Silent,NM_005558,exon3,c.G432A,p.R144R,SNP,SNVindel,exonic,LAD1,NA,synonymous SNV,LAD1:NM_005558:exon3:c.G432A:p.R144R,NA,NA,NA,NA,NA,NA
chr1,201750271,201750271,G,A,R007_S,NAV1,Silent,NM_001167738,exon3,c.G324A,p.K108K,SNP,SNVindel,exonic,NAV1,NA,synonymous SNV,"NAV1:NM_001167738:exon3:c.G324A:p.K108K,NAV1:NM_020443:exon5:c.G1497A:p.K499K",NA,NA,NA,NA,NA,NA
chr1,201752770,201752770,G,A,R007_S,NAV1,Missense_Mutation,NM_001167738,exon5,c.G1421A,p.G474D,SNP,SNVindel,exonic,NAV1,NA,nonsynonymous SNV,"NAV1:NM_001167738:exon5:c.G1421A:p.G474D,NAV1:NM_020443:exon7:c.G2594A:p.G865D",D,N,D,T,N,T
chr1,201839868,201839868,G,A,R007_S,IPO9,Missense_Mutation,NM_018085,exon18,c.G2291A,p.G764D,SNP,SNVindel,exonic,IPO9,NA,nonsynonymous SNV,IPO9:NM_018085:exon18:c.G2291A:p.G764D,D,D,D,T,D,D
chr1,201844007,201844007,G,A,R007_S,IPO9,Missense_Mutation,NM_018085,exon22,c.G2881A,p.E961K,SNP,SNVindel,exonic,IPO9,NA,nonsynonymous SNV,IPO9:NM_018085:exon22:c.G2881A:p.E961K,T,N,D,.,N,T
chr1,202276030,202276030,G,A,R007_S,LGR6,Missense_Mutation,NM_001017404,exon11,c.G754A,p.A252T,SNP,SNVindel,exonic,LGR6,NA,nonsynonymous SNV,"LGR6:NM_001017404:exon11:c.G754A:p.A252T,LGR6:NM_001017403:exon13:c.G1171A:p.A391T,LGR6:NM_021636:exon13:c.G1015A:p.A339T",T,D,D,T,N,T
chr1,203134516,203134516,G,A,R007_S,ADORA1,Missense_Mutation,NM_001048230,exon3,c.G469A,p.A157T,SNP,SNVindel,exonic,ADORA1,NA,nonsynonymous SNV,"ADORA1:NM_001048230:exon3:c.G469A:p.A157T,ADORA1:NM_001365065:exon3:c.G265A:p.A89T,ADORA1:NM_001365066:exon3:c.G121A:p.A41T,ADORA1:NM_000674:exon4:c.G469A:p.A157T",T,N,D,T,N,T
chr1,203452365,203452365,C,T,R007_S,PRELP,Missense_Mutation,NM_002725,exon2,c.C53T,p.A18V,SNP,SNVindel,exonic,PRELP,NA,nonsynonymous SNV,"PRELP:NM_002725:exon2:c.C53T:p.A18V,PRELP:NM_201348:exon2:c.C53T:p.A18V",T,N,N,T,N,T
chr1,203668744,203668744,G,A,R007_S,ATP2B4,Missense_Mutation,NM_001001396,exon4,c.G548A,p.R183H,SNP,SNVindel,exonic,ATP2B4,NA,nonsynonymous SNV,"ATP2B4:NM_001001396:exon4:c.G548A:p.R183H,ATP2B4:NM_001365783:exon4:c.G548A:p.R183H,ATP2B4:NM_001365784:exon4:c.G548A:p.R183H,ATP2B4:NM_001684:exon4:c.G548A:p.R183H",D,D,D,D,D,D
chr1,203680021,203680021,G,A,R007_S,ATP2B4,Missense_Mutation,NM_001001396,exon12,c.G1816A,p.D606N,SNP,SNVindel,exonic,ATP2B4,NA,nonsynonymous SNV,"ATP2B4:NM_001001396:exon12:c.G1816A:p.D606N,ATP2B4:NM_001365783:exon12:c.G1816A:p.D606N,ATP2B4:NM_001365784:exon12:c.G1816A:p.D606N,ATP2B4:NM_001684:exon12:c.G1816A:p.D606N",T,N,D,T,N,T
chr1,203743557,203743557,C,T,R007_S,LAX1,Silent,NM_001136190,exon5,c.C897T,p.S299S,SNP,SNVindel,exonic,LAX1,NA,synonymous SNV,"LAX1:NM_001136190:exon5:c.C897T:p.S299S,LAX1:NM_001282878:exon5:c.C717T:p.S239S,LAX1:NM_017773:exon5:c.C945T:p.S315S",NA,NA,NA,NA,NA,NA
chr1,203799321,203799321,G,A,R007_S,ZC3H11A,Silent,NM_001350264,exon8,c.G690A,p.K230K,SNP,SNVindel,exonic,ZC3H11A,NA,synonymous SNV,"ZC3H11A:NM_001350264:exon8:c.G690A:p.K230K,ZC3H11A:NM_001350263:exon9:c.G690A:p.K230K,ZC3H11A:NM_001350265:exon9:c.G690A:p.K230K,ZC3H11A:NM_001319238:exon10:c.G690A:p.K230K,ZC3H11A:NM_001319239:exon10:c.G690A:p.K230K,ZC3H11A:NM_001350261:exon10:c.G690A:p.K230K,ZC3H11A:NM_001350262:exon10:c.G690A:p.K230K,ZC3H11A:NM_001350266:exon10:c.G690A:p.K230K,ZC3H11A:NM_014827:exon10:c.G690A:p.K230K",NA,NA,NA,NA,NA,NA
chr1,204219686,204219686,C,T,R007_S,PLEKHA6,Silent,NM_014935,exon10,c.G1581A,p.E527E,SNP,SNVindel,exonic,PLEKHA6,NA,synonymous SNV,PLEKHA6:NM_014935:exon10:c.G1581A:p.E527E,NA,NA,NA,NA,NA,NA
chr1,204226980,204226980,G,A,R007_S,PLEKHA6,Missense_Mutation,NM_014935,exon9,c.C1025T,p.P342L,SNP,SNVindel,exonic,PLEKHA6,NA,nonsynonymous SNV,PLEKHA6:NM_014935:exon9:c.C1025T:p.P342L,D,N,D,T,N,T
chr1,204399133,204399133,C,T,R007_S,PIK3C2B,Silent,NM_002646,exon30,c.G4314A,p.R1438R,SNP,SNVindel,exonic,PIK3C2B,NA,synonymous SNV,PIK3C2B:NM_002646:exon30:c.G4314A:p.R1438R,NA,NA,NA,NA,NA,NA
chr1,204588556,204588556,G,A,R007_S,LRRN2,Missense_Mutation,NM_201630,exon2,c.C565T,p.P189S,SNP,SNVindel,exonic,LRRN2,NA,nonsynonymous SNV,"LRRN2:NM_201630:exon2:c.C565T:p.P189S,LRRN2:NM_006338:exon3:c.C565T:p.P189S",T,D,D,T,D,T
chr1,205027751,205027751,G,A,R007_S,CNTN2,Nonsense_Mutation,NM_001346083,exon5,c.G447A,p.W149X,SNP,SNVindel,exonic,CNTN2,NA,stopgain,"CNTN2:NM_001346083:exon5:c.G447A:p.W149X,CNTN2:NM_005076:exon5:c.G447A:p.W149X",.,D,A,.,.,.
chr1,205035705,205035705,G,A,R007_S,CNTN2,Silent,NM_001346083,exon15,c.G1953A,p.G651G,SNP,SNVindel,exonic,CNTN2,NA,synonymous SNV,"CNTN2:NM_001346083:exon15:c.G1953A:p.G651G,CNTN2:NM_005076:exon15:c.G1953A:p.G651G",NA,NA,NA,NA,NA,NA
chr1,205138605,205138605,C,T,R007_S,DSTYK,Missense_Mutation,NM_015375,exon3,c.G1010A,p.S337N,SNP,SNVindel,exonic,DSTYK,NA,nonsynonymous SNV,"DSTYK:NM_015375:exon3:c.G1010A:p.S337N,DSTYK:NM_199462:exon3:c.G1010A:p.S337N",T,N,N,T,N,T
chr1,205497220,205497220,G,A,R007_S,CDK18,Missense_Mutation,NM_002596,exon10,c.G898A,p.E300K,SNP,SNVindel,exonic,CDK18,NA,nonsynonymous SNV,"CDK18:NM_002596:exon10:c.G898A:p.E300K,CDK18:NM_212502:exon10:c.G898A:p.E300K,CDK18:NM_212503:exon10:c.G988A:p.E330K",D,D,D,T,D,T
chr1,205500490,205500490,G,A,R007_S,CDK18,Missense_Mutation,NM_002596,exon16,c.G1409A,p.R470Q,SNP,SNVindel,exonic,CDK18,NA,nonsynonymous SNV,"CDK18:NM_002596:exon16:c.G1409A:p.R470Q,CDK18:NM_212502:exon16:c.G1409A:p.R470Q,CDK18:NM_212503:exon16:c.G1499A:p.R500Q",D,N,D,T,N,T
chr1,205901006,205901006,G,A,R007_S,SLC26A9,Silent,NM_052934,exon5,c.C534T,p.C178C,SNP,SNVindel,exonic,SLC26A9,NA,synonymous SNV,"SLC26A9:NM_052934:exon5:c.C534T:p.C178C,SLC26A9:NM_134325:exon5:c.C534T:p.C178C",NA,NA,NA,NA,NA,NA
chr1,207235380,207235380,G,A,R007_S,PFKFB2,Silent,NM_001018053,exon3,c.G168A,p.K56K,SNP,SNVindel,exonic,PFKFB2,NA,synonymous SNV,"PFKFB2:NM_001018053:exon3:c.G168A:p.K56K,PFKFB2:NM_006212:exon3:c.G168A:p.K56K",NA,NA,NA,NA,NA,NA
chr1,207241511,207241511,G,A,R007_S,PFKFB2,Missense_Mutation,NM_001018053,exon10,c.G844A,p.A282T,SNP,SNVindel,exonic,PFKFB2,NA,nonsynonymous SNV,"PFKFB2:NM_001018053:exon10:c.G844A:p.A282T,PFKFB2:NM_006212:exon10:c.G844A:p.A282T",D,N,D,T,D,D
chr1,208073231,208073231,G,A,R007_S,CD34,Missense_Mutation,NM_001025109,exon2,c.C197T,p.T66I,SNP,SNVindel,exonic,CD34,NA,nonsynonymous SNV,"CD34:NM_001025109:exon2:c.C197T:p.T66I,CD34:NM_001773:exon2:c.C197T:p.T66I",T,N,N,T,N,T
chr1,208219314,208219314,G,A,R007_S,PLXNA2,Missense_Mutation,NM_025179,exon18,c.C3404T,p.T1135I,SNP,SNVindel,exonic,PLXNA2,NA,nonsynonymous SNV,PLXNA2:NM_025179:exon18:c.C3404T:p.T1135I,D,.,D,T,D,T
chr1,208390362,208390362,C,T,R007_S,PLXNA2,Silent,NM_025179,exon2,c.G906A,p.R302R,SNP,SNVindel,exonic,PLXNA2,NA,synonymous SNV,PLXNA2:NM_025179:exon2:c.G906A:p.R302R,NA,NA,NA,NA,NA,NA
chr1,209791262,209791262,C,A,R007_S,LAMB3,Missense_Mutation,NM_001017402,exon19,c.G3041T,p.R1014M,SNP,SNVindel,exonic,LAMB3,NA,nonsynonymous SNV,"LAMB3:NM_001017402:exon19:c.G3041T:p.R1014M,LAMB3:NM_000228:exon20:c.G3041T:p.R1014M,LAMB3:NM_001127641:exon20:c.G3041T:p.R1014M",D,D,D,T,N,T
chr1,209823426,209823426,G,A,R007_S,LAMB3,Silent,NM_001017402,exon2,c.C66T,p.S22S,SNP,SNVindel,exonic,LAMB3,NA,synonymous SNV,"LAMB3:NM_001017402:exon2:c.C66T:p.S22S,LAMB3:NM_000228:exon3:c.C66T:p.S22S,LAMB3:NM_001127641:exon3:c.C66T:p.S22S",NA,NA,NA,NA,NA,NA
chr1,210273471,210273471,C,T,R007_S,SYT14,Missense_Mutation,NM_001146262,exon6,c.C829T,p.L277F,SNP,SNVindel,exonic,SYT14,NA,nonsynonymous SNV,"SYT14:NM_001146262:exon6:c.C829T:p.L277F,SYT14:NM_153262:exon6:c.C829T:p.L277F,SYT14:NM_001146261:exon7:c.C964T:p.L322F,SYT14:NM_001146264:exon7:c.C964T:p.L322F,SYT14:NM_001256006:exon7:c.C715T:p.L239F",D,D,D,T,D,T
chr1,211256188,211256188,G,A,R007_S,KCNH1,Silent,NM_002238,exon5,c.C492T,p.V164V,SNP,SNVindel,exonic,KCNH1,NA,synonymous SNV,"KCNH1:NM_002238:exon5:c.C492T:p.V164V,KCNH1:NM_172362:exon5:c.C492T:p.V164V",NA,NA,NA,NA,NA,NA
chr1,211751477,211751477,G,A,R007_S,SLC30A1,Missense_Mutation,NM_021194,exon1,c.C478T,p.P160S,SNP,SNVindel,exonic,SLC30A1,NA,nonsynonymous SNV,SLC30A1:NM_021194:exon1:c.C478T:p.P160S,T,N,N,T,N,T
chr1,212194553,212194553,G,A,R007_S,INTS7,Silent,NM_001199809,exon2,c.C96T,p.G32G,SNP,SNVindel,exonic,INTS7,NA,synonymous SNV,"INTS7:NM_001199809:exon2:c.C96T:p.G32G,INTS7:NM_001199811:exon2:c.C96T:p.G32G,INTS7:NM_001199812:exon2:c.C96T:p.G32G,INTS7:NM_015434:exon2:c.C96T:p.G32G",NA,NA,NA,NA,NA,NA
chr1,212798754,212798754,G,A,R007_S,FAM71A,Missense_Mutation,NM_153606,exon1,c.G535A,p.E179K,SNP,SNVindel,exonic,FAM71A,NA,nonsynonymous SNV,FAM71A:NM_153606:exon1:c.G535A:p.E179K,T,N,N,T,D,T
chr1,212965318,212965318,G,A,R007_S,TATDN3,Missense_Mutation,NM_001042552,exon1,c.G55A,p.D19N,SNP,SNVindel,exonic,TATDN3,NA,nonsynonymous SNV,"TATDN3:NM_001042552:exon1:c.G55A:p.D19N,TATDN3:NM_001042553:exon1:c.G55A:p.D19N,TATDN3:NM_001146169:exon1:c.G55A:p.D19N,TATDN3:NM_001146170:exon1:c.G55A:p.D19N,TATDN3:NM_001146171:exon1:c.G55A:p.D19N,TATDN3:NM_001363589:exon1:c.G55A:p.D19N,TATDN3:NM_001363590:exon1:c.G55A:p.D19N",D,D,D,.,N,T
chr1,212977961,212977961,G,A,R007_S,TATDN3,Missense_Mutation,NM_001146170,exon6,c.G392A,p.G131E,SNP,SNVindel,exonic,TATDN3,NA,nonsynonymous SNV,"TATDN3:NM_001146170:exon6:c.G392A:p.G131E,TATDN3:NM_001042552:exon7:c.G455A:p.G152E,TATDN3:NM_001042553:exon7:c.G455A:p.G152E,TATDN3:NM_001146169:exon7:c.G455A:p.G152E,TATDN3:NM_001146171:exon7:c.G455A:p.G152E,TATDN3:NM_001363589:exon7:c.G455A:p.G152E,TATDN3:NM_001363590:exon7:c.G455A:p.G152E",D,D,D,.,D,T
chr1,213414519,213414519,C,T,R007_S,RPS6KC1,Missense_Mutation,NM_001349663,exon6,c.C305T,p.A102V,SNP,SNVindel,exonic,RPS6KC1,NA,nonsynonymous SNV,"RPS6KC1:NM_001349663:exon6:c.C305T:p.A102V,RPS6KC1:NM_001349665:exon7:c.C305T:p.A102V,RPS6KC1:NM_001349667:exon8:c.C305T:p.A102V,RPS6KC1:NM_001349670:exon8:c.C305T:p.A102V,RPS6KC1:NM_001349672:exon8:c.C305T:p.A102V,RPS6KC1:NM_001287220:exon9:c.C305T:p.A102V,RPS6KC1:NM_001349657:exon9:c.C809T:p.A270V,RPS6KC1:NM_001349664:exon9:c.C305T:p.A102V,RPS6KC1:NM_001349671:exon9:c.C305T:p.A102V,RPS6KC1:NM_001136138:exon10:c.C1664T:p.A555V,RPS6KC1:NM_001287221:exon10:c.C1157T:p.A386V,RPS6KC1:NM_001349646:exon10:c.C1607T:p.A536V,RPS6KC1:NM_001349647:exon10:c.C1337T:p.A446V,RPS6KC1:NM_001349666:exon10:c.C305T:p.A102V,RPS6KC1:NM_001349668:exon10:c.C305T:p.A102V,RPS6KC1:NM_001287218:exon11:c.C1064T:p.A355V,RPS6KC1:NM_001287219:exon11:c.C1064T:p.A355V,RPS6KC1:NM_001349658:exon11:c.C809T:p.A270V,RPS6KC1:NM_001349661:exon11:c.C644T:p.A215V,RPS6KC1:NM_001349669:exon11:c.C305T:p.A102V,RPS6KC1:NM_012424:exon11:c.C1700T:p.A567V,RPS6KC1:NM_001349648:exon12:c.C1157T:p.A386V,RPS6KC1:NM_001349649:exon12:c.C1157T:p.A386V,RPS6KC1:NM_001349653:exon12:c.C1157T:p.A386V,RPS6KC1:NM_001349654:exon12:c.C1064T:p.A355V,RPS6KC1:NM_001349662:exon12:c.C644T:p.A215V,RPS6KC1:NM_001349650:exon13:c.C1157T:p.A386V,RPS6KC1:NM_001349652:exon13:c.C1157T:p.A386V,RPS6KC1:NM_001349659:exon13:c.C644T:p.A215V,RPS6KC1:NM_001349651:exon14:c.C1157T:p.A386V,RPS6KC1:NM_001349660:exon14:c.C644T:p.A215V",T,N,N,T,N,T
chr1,213415002,213415002,C,T,R007_S,RPS6KC1,Missense_Mutation,NM_001349663,exon6,c.C788T,p.A263V,SNP,SNVindel,exonic,RPS6KC1,NA,nonsynonymous SNV,"RPS6KC1:NM_001349663:exon6:c.C788T:p.A263V,RPS6KC1:NM_001349665:exon7:c.C788T:p.A263V,RPS6KC1:NM_001349667:exon8:c.C788T:p.A263V,RPS6KC1:NM_001349670:exon8:c.C788T:p.A263V,RPS6KC1:NM_001349672:exon8:c.C788T:p.A263V,RPS6KC1:NM_001287220:exon9:c.C788T:p.A263V,RPS6KC1:NM_001349657:exon9:c.C1292T:p.A431V,RPS6KC1:NM_001349664:exon9:c.C788T:p.A263V,RPS6KC1:NM_001349671:exon9:c.C788T:p.A263V,RPS6KC1:NM_001136138:exon10:c.C2147T:p.A716V,RPS6KC1:NM_001287221:exon10:c.C1640T:p.A547V,RPS6KC1:NM_001349646:exon10:c.C2090T:p.A697V,RPS6KC1:NM_001349647:exon10:c.C1820T:p.A607V,RPS6KC1:NM_001349666:exon10:c.C788T:p.A263V,RPS6KC1:NM_001349668:exon10:c.C788T:p.A263V,RPS6KC1:NM_001287218:exon11:c.C1547T:p.A516V,RPS6KC1:NM_001287219:exon11:c.C1547T:p.A516V,RPS6KC1:NM_001349658:exon11:c.C1292T:p.A431V,RPS6KC1:NM_001349661:exon11:c.C1127T:p.A376V,RPS6KC1:NM_001349669:exon11:c.C788T:p.A263V,RPS6KC1:NM_012424:exon11:c.C2183T:p.A728V,RPS6KC1:NM_001349648:exon12:c.C1640T:p.A547V,RPS6KC1:NM_001349649:exon12:c.C1640T:p.A547V,RPS6KC1:NM_001349653:exon12:c.C1640T:p.A547V,RPS6KC1:NM_001349654:exon12:c.C1547T:p.A516V,RPS6KC1:NM_001349662:exon12:c.C1127T:p.A376V,RPS6KC1:NM_001349650:exon13:c.C1640T:p.A547V,RPS6KC1:NM_001349652:exon13:c.C1640T:p.A547V,RPS6KC1:NM_001349659:exon13:c.C1127T:p.A376V,RPS6KC1:NM_001349651:exon14:c.C1640T:p.A547V,RPS6KC1:NM_001349660:exon14:c.C1127T:p.A376V",D,D,D,T,N,T
chr1,214819442,214819442,G,A,R007_S,CENPF,Missense_Mutation,NM_016343,exon13,c.G6529A,p.A2177T,SNP,SNVindel,exonic,CENPF,NA,nonsynonymous SNV,CENPF:NM_016343:exon13:c.G6529A:p.A2177T,T,N,N,T,N,T
chr1,214836965,214836965,C,T,R007_S,CENPF,Missense_Mutation,NM_016343,exon20,c.C9173T,p.S3058L,SNP,SNVindel,exonic,CENPF,NA,nonsynonymous SNV,CENPF:NM_016343:exon20:c.C9173T:p.S3058L,D,.,N,T,N,T
chr1,215972348,215972348,G,A,R007_S,USH2A,Missense_Mutation,NM_206933,exon50,c.C9859T,p.H3287Y,SNP,SNVindel,exonic,USH2A,NA,nonsynonymous SNV,USH2A:NM_206933:exon50:c.C9859T:p.H3287Y,T,N,N,T,N,T
chr1,216052346,216052346,G,A,R007_S,USH2A,Missense_Mutation,NM_206933,exon42,c.C8318T,p.S2773F,SNP,SNVindel,exonic,USH2A,NA,nonsynonymous SNV,USH2A:NM_206933:exon42:c.C8318T:p.S2773F,D,N,N,T,N,T
chr1,216062100,216062100,C,T,R007_S,USH2A,Missense_Mutation,NM_206933,exon41,c.G7891A,p.E2631K,SNP,SNVindel,exonic,USH2A,NA,nonsynonymous SNV,USH2A:NM_206933:exon41:c.G7891A:p.E2631K,T,N,N,T,N,T
chr1,220088951,220088951,C,T,R007_S,SLC30A10,Missense_Mutation,NM_018713,exon4,c.G1298A,p.G433D,SNP,SNVindel,exonic,SLC30A10,NA,nonsynonymous SNV,SLC30A10:NM_018713:exon4:c.G1298A:p.G433D,T,D,D,T,N,T
chr1,220247412,220247412,G,A,R007_S,BPNT1,Missense_Mutation,NM_001286150,exon3,c.C122T,p.T41I,SNP,SNVindel,exonic,BPNT1,NA,nonsynonymous SNV,"BPNT1:NM_001286150:exon3:c.C122T:p.T41I,BPNT1:NM_006085:exon3:c.C122T:p.T41I",D,D,D,D,N,D
chr1,221875959,221875959,G,A,R007_S,DUSP10,Missense_Mutation,NM_007207,exon4,c.C1244T,p.S415F,SNP,SNVindel,exonic,DUSP10,NA,nonsynonymous SNV,DUSP10:NM_007207:exon4:c.C1244T:p.S415F,D,D,D,T,D,D
chr1,223176837,223176837,G,A,R007_S,DISP1,Missense_Mutation,NM_001369594,exon8,c.G2098A,p.E700K,SNP,SNVindel,exonic,DISP1,NA,nonsynonymous SNV,"DISP1:NM_001369594:exon8:c.G2098A:p.E700K,DISP1:NM_001350630:exon9:c.G1369A:p.E457K,DISP1:NM_032890:exon10:c.G2098A:p.E700K",T,D,D,D,N,T
chr1,223285263,223285263,G,A,R007_S,TLR5,Missense_Mutation,NM_003268,exon6,c.C1111T,p.H371Y,SNP,SNVindel,exonic,TLR5,NA,nonsynonymous SNV,TLR5:NM_003268:exon6:c.C1111T:p.H371Y,D,D,D,T,D,T
chr1,223396902,223396902,G,A,R007_S,SUSD4,Missense_Mutation,NM_017982,exon8,c.C1133T,p.S378F,SNP,SNVindel,exonic,SUSD4,NA,nonsynonymous SNV,SUSD4:NM_017982:exon8:c.C1133T:p.S378F,D,N,D,T,D,T
chr1,223568531,223568531,G,A,R007_S,CCDC185,Missense_Mutation,NM_152610,exon1,c.G1714A,p.V572M,SNP,SNVindel,exonic,CCDC185,NA,nonsynonymous SNV,CCDC185:NM_152610:exon1:c.G1714A:p.V572M,T,.,N,T,N,T
chr1,224301864,224301864,G,A,R007_S,FBXO28,Silent,NM_001136115,exon1,c.G33A,p.E11E,SNP,SNVindel,exonic,FBXO28,NA,synonymous SNV,"FBXO28:NM_001136115:exon1:c.G33A:p.E11E,FBXO28:NM_015176:exon1:c.G33A:p.E11E",NA,NA,NA,NA,NA,NA
chr1,225465178,225465178,C,T,R007_S,DNAH14,Nonsense_Mutation,NM_001367479,exon54,c.C8245T,p.R2749X,SNP,SNVindel,exonic,DNAH14,NA,stopgain,DNAH14:NM_001367479:exon54:c.C8245T:p.R2749X,NA,NA,NA,NA,NA,NA
chr1,225510380,225510380,C,T,R007_S,DNAH14,Missense_Mutation,NM_001367479,exon62,c.C9350T,p.P3117L,SNP,SNVindel,exonic,DNAH14,NA,nonsynonymous SNV,DNAH14:NM_001367479:exon62:c.C9350T:p.P3117L,D,.,D,D,D,D
chr1,225519145,225519145,G,A,R007_S,DNAH14,Missense_Mutation,NM_001367479,exon65,c.G9730A,p.E3244K,SNP,SNVindel,exonic,DNAH14,NA,nonsynonymous SNV,DNAH14:NM_001367479:exon65:c.G9730A:p.E3244K,T,U,D,T,N,T
chr1,226349247,226349247,C,T,R007_S,ACBD3,Missense_Mutation,NM_022735,exon4,c.G713A,p.R238Q,SNP,SNVindel,exonic,ACBD3,NA,nonsynonymous SNV,ACBD3:NM_022735:exon4:c.G713A:p.R238Q,T,D,D,T,N,T
chr1,226411557,226411557,G,A,R007_S,MIXL1,Missense_Mutation,NM_001282402,exon1,c.G175A,p.D59N,SNP,SNVindel,exonic,MIXL1,NA,nonsynonymous SNV,"MIXL1:NM_001282402:exon1:c.G175A:p.D59N,MIXL1:NM_031944:exon1:c.G175A:p.D59N",T,U,N,D,N,T
chr1,226822532,226822532,C,T,R007_S,ITPKB,Nonsense_Mutation,NM_002221,exon8,c.G2681A,p.W894X,SNP,SNVindel,exonic,ITPKB,NA,stopgain,ITPKB:NM_002221:exon8:c.G2681A:p.W894X,.,D,D,.,.,.
chr1,228246731,228246731,G,A,R007_S,WNT3A,Silent,NM_033131,exon4,c.G624A,p.L208L,SNP,SNVindel,exonic,WNT3A,NA,synonymous SNV,WNT3A:NM_033131:exon4:c.G624A:p.L208L,NA,NA,NA,NA,NA,NA
chr1,228345726,228345726,G,A,R007_S,GJC2,Silent,NM_020435,exon2,c.G267A,p.T89T,SNP,SNVindel,exonic,GJC2,NA,synonymous SNV,GJC2:NM_020435:exon2:c.G267A:p.T89T,NA,NA,NA,NA,NA,NA
chr1,228434367,228434367,G,A,R007_S,OBSCN,Missense_Mutation,NM_001098623,exon13,c.G3896A,p.S1299N,SNP,SNVindel,exonic,OBSCN,NA,nonsynonymous SNV,"OBSCN:NM_001098623:exon13:c.G3896A:p.S1299N,OBSCN:NM_052843:exon13:c.G3896A:p.S1299N,OBSCN:NM_001271223:exon14:c.G4172A:p.S1391N",T,D,D,T,N,T
chr1,228452058,228452058,G,A,R007_S,OBSCN,Silent,NM_001098623,exon16,c.G4827A,p.G1609G,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon16:c.G4827A:p.G1609G,OBSCN:NM_052843:exon16:c.G4827A:p.G1609G,OBSCN:NM_001271223:exon18:c.G5379A:p.G1793G",NA,NA,NA,NA,NA,NA
chr1,228475520,228475520,C,T,R007_S,OBSCN,Silent,NM_001098623,exon36,c.C9670T,p.L3224L,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon36:c.C9670T:p.L3224L,OBSCN:NM_052843:exon36:c.C9670T:p.L3224L,OBSCN:NM_001271223:exon41:c.C10957T:p.L3653L",NA,NA,NA,NA,NA,NA
chr1,228495910,228495910,G,A,R007_S,OBSCN,Missense_Mutation,NM_001098623,exon47,c.G12565A,p.G4189S,SNP,SNVindel,exonic,OBSCN,NA,nonsynonymous SNV,"OBSCN:NM_001098623:exon47:c.G12565A:p.G4189S,OBSCN:NM_052843:exon47:c.G12565A:p.G4189S,OBSCN:NM_001271223:exon58:c.G15436A:p.G5146S",T,N,N,T,N,T
chr1,228582434,228582434,C,T,R007_S,TRIM11,Missense_Mutation,NM_145214,exon6,c.G1379A,p.G460E,SNP,SNVindel,exonic,TRIM11,NA,nonsynonymous SNV,TRIM11:NM_145214:exon6:c.G1379A:p.G460E,T,N,N,T,N,T
chr1,228646189,228646189,C,T,R007_S,HIST3H2BB,Missense_Mutation,NM_175055,exon1,c.C359T,p.T120I,SNP,SNVindel,exonic,HIST3H2BB,NA,nonsynonymous SNV,HIST3H2BB:NM_175055:exon1:c.C359T:p.T120I,.,D,D,.,.,T
chr1,229730384,229730384,G,A,R007_S,TAF5L,Missense_Mutation,NM_014409,exon5,c.C1430T,p.S477F,SNP,SNVindel,exonic,TAF5L,NA,nonsynonymous SNV,TAF5L:NM_014409:exon5:c.C1430T:p.S477F,D,D,D,T,D,D
chr1,229772267,229772267,G,A,R007_S,URB2,Missense_Mutation,NM_001314021,exon4,c.G1907A,p.G636D,SNP,SNVindel,exonic,URB2,NA,nonsynonymous SNV,"URB2:NM_001314021:exon4:c.G1907A:p.G636D,URB2:NM_014777:exon4:c.G1907A:p.G636D",T,N,N,T,N,T
chr1,230379150,230379150,C,T,R007_S,GALNT2,Missense_Mutation,NM_001291866,exon7,c.C592T,p.P198S,SNP,SNVindel,exonic,GALNT2,NA,nonsynonymous SNV,"GALNT2:NM_001291866:exon7:c.C592T:p.P198S,GALNT2:NM_004481:exon7:c.C706T:p.P236S",D,D,D,T,D,D
chr1,230805237,230805237,G,A,R007_S,COG2,Missense_Mutation,NM_001145036,exon7,c.G730A,p.E244K,SNP,SNVindel,exonic,COG2,NA,nonsynonymous SNV,"COG2:NM_001145036:exon7:c.G730A:p.E244K,COG2:NM_007357:exon7:c.G730A:p.E244K",D,D,D,T,D,T
chr1,231064771,231064771,G,A,R007_S,TTC13,Missense_Mutation,NM_001122835,exon10,c.C1210T,p.P404S,SNP,SNVindel,exonic,TTC13,NA,nonsynonymous SNV,"TTC13:NM_001122835:exon10:c.C1210T:p.P404S,TTC13:NM_024525:exon12:c.C1369T:p.P457S",T,D,D,T,N,T
chr1,232596726,232596726,G,A,R007_S,SIPA1L2,Missense_Mutation,NM_020808,exon8,c.C3002T,p.T1001I,SNP,SNVindel,exonic,SIPA1L2,NA,nonsynonymous SNV,SIPA1L2:NM_020808:exon8:c.C3002T:p.T1001I,D,D,D,T,D,T
chr1,233314918,233314918,G,A,R007_S,PCNX2,Missense_Mutation,NM_014801,exon16,c.C3070T,p.P1024S,SNP,SNVindel,exonic,PCNX2,NA,nonsynonymous SNV,PCNX2:NM_014801:exon16:c.C3070T:p.P1024S,T,.,D,T,D,T
chr1,233353809,233353809,C,T,R007_S,PCNX2,Missense_Mutation,NM_014801,exon11,c.G2626A,p.V876I,SNP,SNVindel,exonic,PCNX2,NA,nonsynonymous SNV,PCNX2:NM_014801:exon11:c.G2626A:p.V876I,T,.,D,T,N,T
chr1,235301246,235301246,G,A,R007_S,RBM34,Silent,NM_001346738,exon8,c.C795T,p.A265A,SNP,SNVindel,exonic,RBM34,NA,synonymous SNV,"RBM34:NM_001346738:exon8:c.C795T:p.A265A,RBM34:NM_015014:exon8:c.C795T:p.A265A",NA,NA,NA,NA,NA,NA
chr1,235338540,235338540,C,T,R007_S,ARID4B,Missense_Mutation,NM_031371,exon21,c.G3365A,p.S1122N,SNP,SNVindel,exonic,ARID4B,NA,nonsynonymous SNV,"ARID4B:NM_031371:exon21:c.G3365A:p.S1122N,ARID4B:NM_001206794:exon22:c.G3623A:p.S1208N,ARID4B:NM_016374:exon22:c.G3623A:p.S1208N",T,N,N,T,N,T
chr1,235345361,235345361,G,A,R007_S,ARID4B,Missense_Mutation,NM_031371,exon19,c.C2615T,p.P872L,SNP,SNVindel,exonic,ARID4B,NA,nonsynonymous SNV,"ARID4B:NM_031371:exon19:c.C2615T:p.P872L,ARID4B:NM_001206794:exon20:c.C2873T:p.P958L,ARID4B:NM_016374:exon20:c.C2873T:p.P958L",D,N,D,T,N,T
chr1,235918864,235918864,G,A,R007_S,LYST,Silent,NM_000081,exon25,c.C7143T,p.N2381N,SNP,SNVindel,exonic,LYST,NA,synonymous SNV,"LYST:NM_000081:exon25:c.C7143T:p.N2381N,LYST:NM_001301365:exon25:c.C7143T:p.N2381N",NA,NA,NA,NA,NA,NA
chr1,235955108,235955108,C,T,R007_S,LYST,Nonsense_Mutation,NM_000081,exon12,c.G4434A,p.W1478X,SNP,SNVindel,exonic,LYST,NA,stopgain,"LYST:NM_000081:exon12:c.G4434A:p.W1478X,LYST:NM_001301365:exon12:c.G4434A:p.W1478X",.,U,A,.,.,.
chr1,236738025,236738025,G,A,R007_S,HEATR1,Missense_Mutation,NM_018072,exon23,c.C3263T,p.A1088V,SNP,SNVindel,exonic,HEATR1,NA,nonsynonymous SNV,HEATR1:NM_018072:exon23:c.C3263T:p.A1088V,T,D,D,T,N,T
chr1,236767388,236767388,G,A,R007_S,HEATR1,Missense_Mutation,NM_018072,exon2,c.C8T,p.S3F,SNP,SNVindel,exonic,HEATR1,NA,nonsynonymous SNV,HEATR1:NM_018072:exon2:c.C8T:p.S3F,D,D,D,T,D,D
chr1,236902688,236902688,G,A,R007_S,ACTN2,Silent,NM_001103,exon10,c.G963A,p.E321E,SNP,SNVindel,exonic,ACTN2,NA,synonymous SNV,"ACTN2:NM_001103:exon10:c.G963A:p.E321E,ACTN2:NM_001278343:exon10:c.G963A:p.E321E,ACTN2:NM_001278344:exon12:c.G339A:p.E113E",NA,NA,NA,NA,NA,NA
chr1,236912548,236912548,G,A,R007_S,ACTN2,Missense_Mutation,NM_001103,exon14,c.G1640A,p.S547N,SNP,SNVindel,exonic,ACTN2,NA,nonsynonymous SNV,"ACTN2:NM_001103:exon14:c.G1640A:p.S547N,ACTN2:NM_001278343:exon14:c.G1640A:p.S547N,ACTN2:NM_001278344:exon16:c.G1016A:p.S339N",T,N,D,T,N,T
chr1,237729968,237729968,G,A,R007_S,RYR2,Missense_Mutation,NM_001035,exon28,c.G3316A,p.E1106K,SNP,SNVindel,exonic,RYR2,NA,nonsynonymous SNV,RYR2:NM_001035:exon28:c.G3316A:p.E1106K,D,D,D,T,D,T
chr1,237787108,237787108,C,T,R007_S,RYR2,Missense_Mutation,NM_001035,exon39,c.C5960T,p.P1987L,SNP,SNVindel,exonic,RYR2,NA,nonsynonymous SNV,RYR2:NM_001035:exon39:c.C5960T:p.P1987L,D,N,D,T,D,D
chr1,241755386,241755386,G,A,R007_S,KMO,Silent,NM_003679,exon15,c.G1392A,p.R464R,SNP,SNVindel,exonic,KMO,NA,synonymous SNV,KMO:NM_003679:exon15:c.G1392A:p.R464R,NA,NA,NA,NA,NA,NA
chr1,242383300,242383300,G,A,R007_S,PLD5,Missense_Mutation,NM_001195812,exon4,c.C101T,p.S34F,SNP,SNVindel,exonic,PLD5,NA,nonsynonymous SNV,"PLD5:NM_001195812:exon4:c.C101T:p.S34F,PLD5:NM_001195811:exon5:c.C539T:p.S180F,PLD5:NM_001320272:exon6:c.C449T:p.S150F,PLD5:NM_152666:exon6:c.C725T:p.S242F",D,D,D,T,D,T
chr1,244538729,244538729,G,A,R007_S,C1orf100,Missense_Mutation,NM_001012970,exon3,c.G112A,p.A38T,SNP,SNVindel,exonic,C1orf100,NA,nonsynonymous SNV,"C1orf100:NM_001012970:exon3:c.G112A:p.A38T,C1orf100:NM_001276348:exon3:c.G112A:p.A38T,C1orf100:NM_001276349:exon3:c.G112A:p.A38T",D,N,N,.,D,T
chr1,245019392,245019392,C,T,R007_S,HNRNPU,Missense_Mutation,NM_004501,exon11,c.G1924A,p.E642K,SNP,SNVindel,exonic,HNRNPU,NA,nonsynonymous SNV,"HNRNPU:NM_004501:exon11:c.G1924A:p.E642K,HNRNPU:NM_031844:exon11:c.G1981A:p.E661K",D,D,D,T,D,T
chr1,245019460,245019460,C,T,R007_S,HNRNPU,Missense_Mutation,NM_004501,exon11,c.G1856A,p.G619E,SNP,SNVindel,exonic,HNRNPU,NA,nonsynonymous SNV,"HNRNPU:NM_004501:exon11:c.G1856A:p.G619E,HNRNPU:NM_031844:exon11:c.G1913A:p.G638E",D,D,D,T,N,T
chr1,247265409,247265409,C,T,R007_S,ZNF669,Missense_Mutation,NM_001142572,exon2,c.G10A,p.V4M,SNP,SNVindel,exonic,ZNF669,NA,nonsynonymous SNV,"ZNF669:NM_001142572:exon2:c.G10A:p.V4M,ZNF669:NM_024804:exon2:c.G268A:p.V90M",D,.,N,T,D,T
chr1,247275177,247275177,G,A,R007_S,C1orf229,Missense_Mutation,NM_207401,exon1,c.C350T,p.S117F,SNP,SNVindel,exonic,C1orf229,NA,nonsynonymous SNV,C1orf229:NM_207401:exon1:c.C350T:p.S117F,NA,NA,NA,NA,NA,NA
chr1,247492849,247492849,G,A,R007_S,ZNF496,Missense_Mutation,NM_001329733,exon4,c.C32T,p.A11V,SNP,SNVindel,exonic,ZNF496,NA,nonsynonymous SNV,"ZNF496:NM_001329733:exon4:c.C32T:p.A11V,ZNF496:NM_032752:exon4:c.C32T:p.A11V",D,.,D,T,N,T
chr1,247588203,247588203,G,A,R007_S,NLRP3,Silent,NM_001127462,exon3,c.G1458A,p.E486E,SNP,SNVindel,exonic,NLRP3,NA,synonymous SNV,"NLRP3:NM_001127462:exon3:c.G1458A:p.E486E,NLRP3:NM_001243133:exon3:c.G1452A:p.E484E,NLRP3:NM_004895:exon3:c.G1458A:p.E486E,NLRP3:NM_183395:exon3:c.G1458A:p.E486E,NLRP3:NM_001127461:exon4:c.G1458A:p.E486E,NLRP3:NM_001079821:exon5:c.G1458A:p.E486E",NA,NA,NA,NA,NA,NA
chr1,248569386,248569386,C,T,R007_S,OR2T1,Missense_Mutation,NM_030904,exon1,c.C91T,p.P31S,SNP,SNVindel,exonic,OR2T1,NA,nonsynonymous SNV,OR2T1:NM_030904:exon1:c.C91T:p.P31S,D,.,N,T,N,T
chr1,248756151,248756151,C,T,R007_S,OR2T10,Missense_Mutation,NM_001004693,exon1,c.G919A,p.V307M,SNP,SNVindel,exonic,OR2T10,NA,nonsynonymous SNV,OR2T10:NM_001004693:exon1:c.G919A:p.V307M,T,.,N,T,N,T
chr1,249150051,249150051,G,A,R007_S,ZNF692,Missense_Mutation,NM_001193328,exon6,c.C619T,p.P207S,SNP,SNVindel,exonic,ZNF692,NA,nonsynonymous SNV,"ZNF692:NM_001193328:exon6:c.C619T:p.P207S,ZNF692:NM_001136036:exon7:c.C769T:p.P257S,ZNF692:NM_001350072:exon7:c.C751T:p.P251S,ZNF692:NM_001350073:exon7:c.C142T:p.P48S,ZNF692:NM_017865:exon7:c.C754T:p.P252S",D,N,N,T,N,T
chr2,1437369,1437369,G,A,R007_S,TPO,Silent,NM_175721,exon3,c.G339A,p.Q113Q,SNP,SNVindel,exonic,TPO,NA,synonymous SNV,"TPO:NM_175721:exon3:c.G339A:p.Q113Q,TPO:NM_175722:exon3:c.G339A:p.Q113Q,TPO:NM_000547:exon4:c.G339A:p.Q113Q,TPO:NM_001206744:exon4:c.G339A:p.Q113Q,TPO:NM_001206745:exon4:c.G339A:p.Q113Q,TPO:NM_175719:exon4:c.G339A:p.Q113Q",NA,NA,NA,NA,NA,NA
chr2,1457516,1457516,C,T,R007_S,TPO,Missense_Mutation,NM_175721,exon5,c.C533T,p.P178L,SNP,SNVindel,exonic,TPO,NA,nonsynonymous SNV,"TPO:NM_175721:exon5:c.C533T:p.P178L,TPO:NM_175722:exon5:c.C533T:p.P178L,TPO:NM_000547:exon6:c.C533T:p.P178L,TPO:NM_001206744:exon6:c.C533T:p.P178L,TPO:NM_001206745:exon6:c.C533T:p.P178L,TPO:NM_175719:exon6:c.C533T:p.P178L",D,D,D,T,D,D
chr2,1893139,1893139,G,A,R007_S,MYT1L,Silent,NM_001303052,exon16,c.C2394T,p.P798P,SNP,SNVindel,exonic,MYT1L,NA,synonymous SNV,"MYT1L:NM_001303052:exon16:c.C2394T:p.P798P,MYT1L:NM_001329845:exon16:c.C2394T:p.P798P,MYT1L:NM_001329846:exon16:c.C2388T:p.P796P,MYT1L:NM_001329847:exon16:c.C2388T:p.P796P,MYT1L:NM_001329848:exon16:c.C2388T:p.P796P,MYT1L:NM_001329849:exon16:c.C2388T:p.P796P,MYT1L:NM_001329851:exon16:c.C2394T:p.P798P,MYT1L:NM_001329852:exon16:c.C2388T:p.P796P,MYT1L:NM_015025:exon16:c.C2388T:p.P796P,MYT1L:NM_001329844:exon17:c.C2394T:p.P798P",NA,NA,NA,NA,NA,NA
chr2,8890328,8890328,G,A,R007_S,KIDINS220,Missense_Mutation,NM_001348729,exon24,c.C3331T,p.P1111S,SNP,SNVindel,exonic,KIDINS220,NA,nonsynonymous SNV,"KIDINS220:NM_001348729:exon24:c.C3331T:p.P1111S,KIDINS220:NM_001348731:exon24:c.C3331T:p.P1111S,KIDINS220:NM_001348732:exon24:c.C3328T:p.P1110S,KIDINS220:NM_001348734:exon24:c.C3331T:p.P1111S,KIDINS220:NM_001348735:exon24:c.C3328T:p.P1110S,KIDINS220:NM_001348738:exon24:c.C3328T:p.P1110S,KIDINS220:NM_001348739:exon24:c.C3331T:p.P1111S,KIDINS220:NM_001348740:exon24:c.C3331T:p.P1111S,KIDINS220:NM_001348741:exon24:c.C3328T:p.P1110S,KIDINS220:NM_001348742:exon24:c.C3328T:p.P1110S,KIDINS220:NM_001348743:exon24:c.C3328T:p.P1110S,KIDINS220:NM_020738:exon24:c.C3328T:p.P1110S,KIDINS220:NM_001348736:exon25:c.C3202T:p.P1068S",T,D,D,T,N,T
chr2,8919944,8919944,C,T,R007_S,KIDINS220,Missense_Mutation,NM_001348729,exon18,c.G2233A,p.V745I,SNP,SNVindel,exonic,KIDINS220,NA,nonsynonymous SNV,"KIDINS220:NM_001348729:exon18:c.G2233A:p.V745I,KIDINS220:NM_001348731:exon18:c.G2233A:p.V745I,KIDINS220:NM_001348732:exon18:c.G2230A:p.V744I,KIDINS220:NM_001348734:exon18:c.G2233A:p.V745I,KIDINS220:NM_001348735:exon18:c.G2230A:p.V744I,KIDINS220:NM_001348738:exon18:c.G2230A:p.V744I,KIDINS220:NM_001348739:exon18:c.G2233A:p.V745I,KIDINS220:NM_001348740:exon18:c.G2233A:p.V745I,KIDINS220:NM_001348741:exon18:c.G2230A:p.V744I,KIDINS220:NM_001348742:exon18:c.G2230A:p.V744I,KIDINS220:NM_001348743:exon18:c.G2230A:p.V744I,KIDINS220:NM_001348745:exon18:c.G2233A:p.V745I,KIDINS220:NM_020738:exon18:c.G2230A:p.V744I,KIDINS220:NM_001348736:exon19:c.G2104A:p.V702I",T,D,D,T,N,T
chr2,9528614,9528614,C,T,R007_S,ASAP2,Silent,NM_001135191,exon22,c.C2322T,p.A774A,SNP,SNVindel,exonic,ASAP2,NA,synonymous SNV,"ASAP2:NM_001135191:exon22:c.C2322T:p.A774A,ASAP2:NM_003887:exon22:c.C2322T:p.A774A",NA,NA,NA,NA,NA,NA
chr2,9595802,9595802,G,A,R007_S,CPSF3,Missense_Mutation,NM_001321833,exon13,c.G1408A,p.A470T,SNP,SNVindel,exonic,CPSF3,NA,nonsynonymous SNV,"CPSF3:NM_001321833:exon13:c.G1408A:p.A470T,CPSF3:NM_001321834:exon13:c.G1408A:p.A470T,CPSF3:NM_001321835:exon13:c.G1102A:p.A368T,CPSF3:NM_016207:exon13:c.G1519A:p.A507T,CPSF3:NM_001321836:exon14:c.G1531A:p.A511T",T,D,D,T,N,T
chr2,9770405,9770405,C,T,R007_S,YWHAQ,Nonsense_Mutation,NM_006826,exon2,c.G177A,p.W59X,SNP,SNVindel,exonic,YWHAQ,NA,stopgain,YWHAQ:NM_006826:exon2:c.G177A:p.W59X,.,D,A,.,.,.
chr2,10016052,10016052,G,A,R007_S,TAF1B,Silent,NM_005680,exon7,c.G612A,p.K204K,SNP,SNVindel,exonic,TAF1B,NA,synonymous SNV,TAF1B:NM_005680:exon7:c.G612A:p.K204K,NA,NA,NA,NA,NA,NA
chr2,10102593,10102593,C,T,R007_S,GRHL1,Missense_Mutation,NM_198182,exon5,c.C679T,p.P227S,SNP,SNVindel,exonic,GRHL1,NA,nonsynonymous SNV,GRHL1:NM_198182:exon5:c.C679T:p.P227S,T,N,D,T,N,T
chr2,10188602,10188602,C,T,R007_S,KLF11,Nonsense_Mutation,NM_001177716,exon3,c.C1087T,p.Q363X,SNP,SNVindel,exonic,KLF11,NA,stopgain,"KLF11:NM_001177716:exon3:c.C1087T:p.Q363X,KLF11:NM_001177718:exon3:c.C1087T:p.Q363X,KLF11:NM_003597:exon3:c.C1138T:p.Q380X",.,N,A,.,.,.
chr2,11332799,11332799,C,T,R007_S,ROCK2,Missense_Mutation,NM_001321643,exon31,c.G3469A,p.E1157K,SNP,SNVindel,exonic,ROCK2,NA,nonsynonymous SNV,"ROCK2:NM_001321643:exon31:c.G3469A:p.E1157K,ROCK2:NM_004850:exon31:c.G3727A:p.E1243K",D,D,D,T,D,T
chr2,11913846,11913846,G,A,R007_S,LPIN1,Missense_Mutation,NM_001349201,exon5,c.G697A,p.D233N,SNP,SNVindel,exonic,LPIN1,NA,nonsynonymous SNV,"LPIN1:NM_001349201:exon5:c.G697A:p.D233N,LPIN1:NM_001349203:exon5:c.G697A:p.D233N,LPIN1:NM_001349206:exon5:c.G697A:p.D233N,LPIN1:NM_001349207:exon5:c.G787A:p.D263N,LPIN1:NM_145693:exon5:c.G697A:p.D233N,LPIN1:NM_001261427:exon6:c.G715A:p.D239N,LPIN1:NM_001261428:exon6:c.G844A:p.D282N,LPIN1:NM_001349199:exon6:c.G697A:p.D233N,LPIN1:NM_001349200:exon6:c.G697A:p.D233N,LPIN1:NM_001349202:exon6:c.G697A:p.D233N,LPIN1:NM_001349204:exon6:c.G697A:p.D233N,LPIN1:NM_001349205:exon6:c.G697A:p.D233N,LPIN1:NM_001349208:exon6:c.G844A:p.D282N",D,D,D,D,D,D
chr2,11919677,11919677,G,A,R007_S,LPIN1,Missense_Mutation,NM_001349201,exon6,c.G755A,p.S252N,SNP,SNVindel,exonic,LPIN1,NA,nonsynonymous SNV,"LPIN1:NM_001349201:exon6:c.G755A:p.S252N,LPIN1:NM_145693:exon6:c.G755A:p.S252N,LPIN1:NM_001261427:exon7:c.G773A:p.S258N,LPIN1:NM_001349199:exon7:c.G755A:p.S252N,LPIN1:NM_001349200:exon7:c.G755A:p.S252N,LPIN1:NM_001349203:exon7:c.G860A:p.S287N,LPIN1:NM_001349206:exon7:c.G863A:p.S288N,LPIN1:NM_001349207:exon7:c.G953A:p.S318N,LPIN1:NM_001349208:exon7:c.G902A:p.S301N,LPIN1:NM_001261428:exon8:c.G1010A:p.S337N,LPIN1:NM_001349202:exon8:c.G860A:p.S287N,LPIN1:NM_001349204:exon8:c.G863A:p.S288N,LPIN1:NM_001349205:exon8:c.G863A:p.S288N",D,D,D,D,D,D
chr2,15496529,15496529,C,T,R007_S,NBAS,Missense_Mutation,NM_015909,exon33,c.G3829A,p.E1277K,SNP,SNVindel,exonic,NBAS,NA,nonsynonymous SNV,NBAS:NM_015909:exon33:c.G3829A:p.E1277K,T,N,D,T,N,T
chr2,15760499,15760499,G,A,R007_S,DDX1,Silent,NM_004939,exon17,c.G1374A,p.R458R,SNP,SNVindel,exonic,DDX1,NA,synonymous SNV,DDX1:NM_004939:exon17:c.G1374A:p.R458R,NA,NA,NA,NA,NA,NA
chr2,18764166,18764166,C,T,R007_S,NT5C1B,Missense_Mutation,NM_001199103,exon6,c.G995A,p.G332E,SNP,SNVindel,exonic,NT5C1B;NT5C1B-RDH14,NA,nonsynonymous SNV,"NT5C1B-RDH14:NM_001199103:exon6:c.G995A:p.G332E,NT5C1B:NM_033253:exon6:c.G989A:p.G330E,NT5C1B:NM_001002006:exon7:c.G1169A:p.G390E,NT5C1B:NM_001199086:exon7:c.G1118A:p.G373E,NT5C1B:NM_001199087:exon7:c.G1220A:p.G407E,NT5C1B:NM_001199088:exon7:c.G1175A:p.G392E,NT5C1B-RDH14:NM_001199104:exon7:c.G1169A:p.G390E",D,D,D,D,D,D
chr2,20647679,20647679,C,T,R007_S,RHOB,Silent,NM_004040,exon1,c.C453T,p.I151I,SNP,SNVindel,exonic,RHOB,NA,synonymous SNV,RHOB:NM_004040:exon1:c.C453T:p.I151I,NA,NA,NA,NA,NA,NA
chr2,23785150,23785150,G,A,R007_S,KLHL29,Silent,NM_052920,exon3,c.G84A,p.G28G,SNP,SNVindel,exonic,KLHL29,NA,synonymous SNV,KLHL29:NM_052920:exon3:c.G84A:p.G28G,NA,NA,NA,NA,NA,NA
chr2,23918500,23918500,C,T,R007_S,KLHL29,Missense_Mutation,NM_052920,exon9,c.C1550T,p.A517V,SNP,SNVindel,exonic,KLHL29,NA,nonsynonymous SNV,KLHL29:NM_052920:exon9:c.C1550T:p.A517V,T,N,D,T,N,T
chr2,24236263,24236263,C,T,R007_S,MFSD2B,Silent,NM_001346880,exon2,c.C205T,p.L69L,SNP,SNVindel,exonic,MFSD2B,NA,synonymous SNV,MFSD2B:NM_001346880:exon2:c.C205T:p.L69L,NA,NA,NA,NA,NA,NA
chr2,24240169,24240169,C,T,R007_S,MFSD2B,Missense_Mutation,NM_001346880,exon5,c.C485T,p.P162L,SNP,SNVindel,exonic,MFSD2B,NA,nonsynonymous SNV,MFSD2B:NM_001346880:exon5:c.C485T:p.P162L,D,U,D,D,D,D
chr2,24245751,24245751,G,A,R007_S,MFSD2B,Silent,NM_001346880,exon10,c.G1038A,p.K346K,SNP,SNVindel,exonic,MFSD2B,NA,synonymous SNV,MFSD2B:NM_001346880:exon10:c.G1038A:p.K346K,NA,NA,NA,NA,NA,NA
chr2,24484089,24484089,C,T,R007_S,ITSN2,Silent,NM_001348182,exon21,c.G2448A,p.V816V,SNP,SNVindel,exonic,ITSN2,NA,synonymous SNV,"ITSN2:NM_001348182:exon21:c.G2448A:p.V816V,ITSN2:NM_001348183:exon21:c.G2487A:p.V829V,ITSN2:NM_001348186:exon21:c.G2448A:p.V816V,ITSN2:NM_019595:exon21:c.G2487A:p.V829V,ITSN2:NM_001348184:exon22:c.G2445A:p.V815V,ITSN2:NM_001348185:exon22:c.G2529A:p.V843V,ITSN2:NM_006277:exon22:c.G2568A:p.V856V,ITSN2:NM_147152:exon22:c.G2568A:p.V856V,ITSN2:NM_001348181:exon23:c.G2526A:p.V842V",NA,NA,NA,NA,NA,NA
chr2,25057359,25057359,G,A,R007_S,ADCY3,Silent,NM_001320613,exon11,c.C1962T,p.D654D,SNP,SNVindel,exonic,ADCY3,NA,synonymous SNV,"ADCY3:NM_001320613:exon11:c.C1962T:p.D654D,ADCY3:NM_004036:exon11:c.C1962T:p.D654D",NA,NA,NA,NA,NA,NA
chr2,25799826,25799826,C,T,R007_S,DTNB,Missense_Mutation,NM_001320935,exon6,c.G145A,p.G49S,SNP,SNVindel,exonic,DTNB,NA,nonsynonymous SNV,"DTNB:NM_001320935:exon6:c.G145A:p.G49S,DTNB:NM_001256308:exon7:c.G586A:p.G196S,DTNB:NM_001320932:exon7:c.G145A:p.G49S,DTNB:NM_001351381:exon7:c.G316A:p.G106S,DTNB:NM_001351392:exon7:c.G316A:p.G106S,DTNB:NM_001351393:exon7:c.G316A:p.G106S,DTNB:NM_001256303:exon8:c.G757A:p.G253S,DTNB:NM_001256304:exon8:c.G757A:p.G253S,DTNB:NM_001320933:exon8:c.G757A:p.G253S,DTNB:NM_001320934:exon8:c.G757A:p.G253S,DTNB:NM_001320936:exon8:c.G757A:p.G253S,DTNB:NM_001320937:exon8:c.G757A:p.G253S,DTNB:NM_001351382:exon8:c.G757A:p.G253S,DTNB:NM_001351383:exon8:c.G757A:p.G253S,DTNB:NM_001351384:exon8:c.G757A:p.G253S,DTNB:NM_001351385:exon8:c.G757A:p.G253S,DTNB:NM_001351386:exon8:c.G757A:p.G253S,DTNB:NM_001351387:exon8:c.G757A:p.G253S,DTNB:NM_001351388:exon8:c.G757A:p.G253S,DTNB:NM_001351389:exon8:c.G757A:p.G253S,DTNB:NM_001351390:exon8:c.G757A:p.G253S,DTNB:NM_001351391:exon8:c.G757A:p.G253S,DTNB:NM_001351394:exon8:c.G757A:p.G253S,DTNB:NM_021907:exon8:c.G757A:p.G253S,DTNB:NM_033147:exon8:c.G757A:p.G253S,DTNB:NM_033148:exon8:c.G757A:p.G253S,DTNB:NM_183360:exon8:c.G757A:p.G253S,DTNB:NM_183361:exon8:c.G757A:p.G253S",D,D,D,D,D,D
chr2,26502031,26502031,G,A,R007_S,HADHB,Missense_Mutation,NM_001281512,exon8,c.G614A,p.S205N,SNP,SNVindel,exonic,HADHB,NA,nonsynonymous SNV,"HADHB:NM_001281512:exon8:c.G614A:p.S205N,HADHB:NM_000183:exon9:c.G659A:p.S220N,HADHB:NM_001281513:exon10:c.G593A:p.S198N",T,N,D,D,N,T
chr2,26534206,26534206,C,T,R007_S,ADGRF3,Missense_Mutation,NM_153835,exon8,c.G1793A,p.R598K,SNP,SNVindel,exonic,ADGRF3,NA,nonsynonymous SNV,"ADGRF3:NM_153835:exon8:c.G1793A:p.R598K,ADGRF3:NM_001145169:exon10:c.G2183A:p.R728K,ADGRF3:NM_001321971:exon10:c.G2186A:p.R729K,ADGRF3:NM_001145168:exon11:c.G2390A:p.R797K,ADGRF3:NM_001321975:exon11:c.G1199A:p.R400K",T,.,N,T,N,T
chr2,26700118,26700118,C,T,R007_S,OTOF,Silent,NM_194322,exon3,c.G375A,p.Q125Q,SNP,SNVindel,exonic,OTOF,NA,synonymous SNV,"OTOF:NM_194322:exon3:c.G375A:p.Q125Q,OTOF:NM_004802:exon4:c.G204A:p.Q68Q,OTOF:NM_194323:exon4:c.G204A:p.Q68Q,OTOF:NM_001287489:exon21:c.G2445A:p.Q815Q,OTOF:NM_194248:exon21:c.G2445A:p.Q815Q",NA,NA,NA,NA,NA,NA
chr2,26818147,26818147,G,A,R007_S,CIB4,Silent,NM_001029881,exon4,c.C225T,p.S75S,SNP,SNVindel,exonic,CIB4,NA,synonymous SNV,CIB4:NM_001029881:exon4:c.C225T:p.S75S,NA,NA,NA,NA,NA,NA
chr2,26950812,26950812,C,T,R007_S,KCNK3,Silent,NM_002246,exon2,c.C561T,p.F187F,SNP,SNVindel,exonic,KCNK3,NA,synonymous SNV,KCNK3:NM_002246:exon2:c.C561T:p.F187F,NA,NA,NA,NA,NA,NA
chr2,27162929,27162929,C,T,R007_S,DPYSL5,Silent,NM_001253723,exon9,c.C978T,p.H326H,SNP,SNVindel,exonic,DPYSL5,NA,synonymous SNV,"DPYSL5:NM_001253723:exon9:c.C978T:p.H326H,DPYSL5:NM_001253724:exon9:c.C978T:p.H326H,DPYSL5:NM_020134:exon9:c.C978T:p.H326H",NA,NA,NA,NA,NA,NA
chr2,27249161,27249161,C,T,R007_S,MAPRE3,Missense_Mutation,NM_001303050,exon7,c.C791T,p.P264L,SNP,SNVindel,exonic,MAPRE3,NA,nonsynonymous SNV,"MAPRE3:NM_001303050:exon7:c.C791T:p.P264L,MAPRE3:NM_012326:exon7:c.C791T:p.P264L",T,N,D,T,D,T
chr2,27258511,27258511,G,A,R007_S,TMEM214,Silent,NM_017727,exon4,c.G552A,p.G184G,SNP,SNVindel,exonic,TMEM214,NA,synonymous SNV,TMEM214:NM_017727:exon4:c.G552A:p.G184G,NA,NA,NA,NA,NA,NA
chr2,27322072,27322072,C,T,R007_S,KHK,Silent,NM_000221,exon6,c.C573T,p.V191V,SNP,SNVindel,exonic,KHK,NA,synonymous SNV,"KHK:NM_000221:exon6:c.C573T:p.V191V,KHK:NM_006488:exon6:c.C573T:p.V191V",NA,NA,NA,NA,NA,NA
chr2,27351979,27351979,C,T,R007_S,ABHD1,Silent,NM_032604,exon3,c.C442T,p.L148L,SNP,SNVindel,exonic,ABHD1,NA,synonymous SNV,ABHD1:NM_032604:exon3:c.C442T:p.L148L,NA,NA,NA,NA,NA,NA
chr2,27373207,27373207,G,A,R007_S,TCF23,Missense_Mutation,NM_175769,exon2,c.G439A,p.G147R,SNP,SNVindel,exonic,TCF23,NA,nonsynonymous SNV,TCF23:NM_175769:exon2:c.G439A:p.G147R,D,D,D,D,D,D
chr2,27430460,27430460,C,T,R007_S,SLC5A6,Missense_Mutation,NM_021095,exon3,c.G59A,p.G20D,SNP,SNVindel,exonic,SLC5A6,NA,nonsynonymous SNV,SLC5A6:NM_021095:exon3:c.G59A:p.G20D,T,N,N,T,N,T
chr2,27447686,27447686,C,T,R007_S,CAD,Missense_Mutation,NM_001306079,exon10,c.C1328T,p.S443F,SNP,SNVindel,exonic,CAD,NA,nonsynonymous SNV,"CAD:NM_001306079:exon10:c.C1328T:p.S443F,CAD:NM_004341:exon10:c.C1328T:p.S443F",D,N,D,D,D,D
chr2,27486933,27486933,C,T,R007_S,SLC30A3,Missense_Mutation,NM_001318949,exon2,c.G25A,p.G9R,SNP,SNVindel,exonic,SLC30A3,NA,nonsynonymous SNV,SLC30A3:NM_001318949:exon2:c.G25A:p.G9R,NA,NA,NA,NA,NA,NA
chr2,27505662,27505662,G,A,R007_S,TRIM54,Silent,NM_032546,exon1,c.G63A,p.E21E,SNP,SNVindel,exonic,TRIM54,NA,synonymous SNV,"TRIM54:NM_032546:exon1:c.G63A:p.E21E,TRIM54:NM_187841:exon1:c.G63A:p.E21E",NA,NA,NA,NA,NA,NA
chr2,27601191,27601191,C,T,R007_S,ZNF513,Missense_Mutation,NM_001201459,exon3,c.G661A,p.A221T,SNP,SNVindel,exonic,ZNF513,NA,nonsynonymous SNV,"ZNF513:NM_001201459:exon3:c.G661A:p.A221T,ZNF513:NM_144631:exon4:c.G847A:p.A283T",T,N,N,T,N,T
chr2,27716260,27716260,C,T,R007_S,FNDC4,Nonsense_Mutation,NM_022823,exon5,c.G540A,p.W180X,SNP,SNVindel,exonic,FNDC4,NA,stopgain,FNDC4:NM_022823:exon5:c.G540A:p.W180X,.,D,A,.,.,.
chr2,27730565,27730565,C,T,R007_S,GCKR,Silent,NM_001486,exon14,c.C1161T,p.F387F,SNP,SNVindel,exonic,GCKR,NA,synonymous SNV,GCKR:NM_001486:exon14:c.C1161T:p.F387F,NA,NA,NA,NA,NA,NA
chr2,27803814,27803814,G,A,R007_S,C2orf16,Missense_Mutation,NM_032266,exon1,c.G4375A,p.D1459N,SNP,SNVindel,exonic,C2orf16,NA,nonsynonymous SNV,C2orf16:NM_032266:exon1:c.G4375A:p.D1459N,T,.,N,T,N,T
chr2,27844148,27844148,G,A,R007_S,ZNF512,Silent,NM_001271286,exon13,c.G1437A,p.Q479Q,SNP,SNVindel,exonic,ZNF512,NA,synonymous SNV,"ZNF512:NM_001271286:exon13:c.G1437A:p.Q479Q,ZNF512:NM_001271287:exon13:c.G1293A:p.Q431Q,ZNF512:NM_001271288:exon13:c.G1293A:p.Q431Q,ZNF512:NM_001271289:exon13:c.G1209A:p.Q403Q,ZNF512:NM_032434:exon14:c.G1524A:p.Q508Q,ZNF512:NM_001271318:exon15:c.G1293A:p.Q431Q",NA,NA,NA,NA,NA,NA
chr2,28248202,28248202,G,A,R007_S,BABAM2,Missense_Mutation,NM_001261840,exon5,c.G410A,p.R137H,SNP,SNVindel,exonic,BABAM2,NA,nonsynonymous SNV,"BABAM2:NM_001261840:exon5:c.G410A:p.R137H,BABAM2:NM_001329112:exon5:c.G410A:p.R137H,BABAM2:NM_001329114:exon5:c.G410A:p.R137H,BABAM2:NM_004899:exon5:c.G410A:p.R137H,BABAM2:NM_199191:exon5:c.G410A:p.R137H,BABAM2:NM_199192:exon5:c.G410A:p.R137H,BABAM2:NM_001329113:exon6:c.G410A:p.R137H,BABAM2:NM_001329115:exon6:c.G410A:p.R137H,BABAM2:NM_199193:exon6:c.G410A:p.R137H,BABAM2:NM_199194:exon6:c.G410A:p.R137H",D,D,D,.,D,T
chr2,29295977,29295977,G,A,R007_S,PCARE,Missense_Mutation,NM_001029883,exon1,c.C1151T,p.T384I,SNP,SNVindel,exonic,PCARE,NA,nonsynonymous SNV,PCARE:NM_001029883:exon1:c.C1151T:p.T384I,T,N,N,T,N,T
chr2,32476475,32476475,G,A,R007_S,NLRC4,Missense_Mutation,NM_001199138,exon4,c.C458T,p.T153I,SNP,SNVindel,exonic,NLRC4,NA,nonsynonymous SNV,"NLRC4:NM_001199138:exon4:c.C458T:p.T153I,NLRC4:NM_001199139:exon4:c.C458T:p.T153I,NLRC4:NM_021209:exon4:c.C458T:p.T153I",D,N,.,T,N,T
chr2,32730172,32730172,C,T,R007_S,BIRC6,Silent,NM_016252,exon50,c.C9600T,p.I3200I,SNP,SNVindel,exonic,BIRC6,NA,synonymous SNV,BIRC6:NM_016252:exon50:c.C9600T:p.I3200I,NA,NA,NA,NA,NA,NA
chr2,32734885,32734885,C,T,R007_S,BIRC6,Missense_Mutation,NM_016252,exon52,c.C10061T,p.P3354L,SNP,SNVindel,exonic,BIRC6,NA,nonsynonymous SNV,BIRC6:NM_016252:exon52:c.C10061T:p.P3354L,D,D,D,T,D,T
chr2,32770733,32770733,G,A,R007_S,BIRC6,Missense_Mutation,NM_016252,exon63,c.G12616A,p.A4206T,SNP,SNVindel,exonic,BIRC6,NA,nonsynonymous SNV,BIRC6:NM_016252:exon63:c.G12616A:p.A4206T,D,D,D,T,D,D
chr2,33585807,33585807,G,A,R007_S,LTBP1,Missense_Mutation,NM_001166264,exon22,c.G3040A,p.D1014N,SNP,SNVindel,exonic,LTBP1,NA,nonsynonymous SNV,"LTBP1:NM_001166264:exon22:c.G3040A:p.D1014N,LTBP1:NM_001166266:exon22:c.G2881A:p.D961N,LTBP1:NM_000627:exon23:c.G3166A:p.D1056N,LTBP1:NM_001166265:exon23:c.G3007A:p.D1003N,LTBP1:NM_206943:exon27:c.G4144A:p.D1382N",D,.,D,D,D,D
chr2,33585811,33585811,A,G,R007_S,LTBP1,Missense_Mutation,NM_001166264,exon22,c.A3044G,p.N1015S,SNP,SNVindel,exonic,LTBP1,NA,nonsynonymous SNV,"LTBP1:NM_001166264:exon22:c.A3044G:p.N1015S,LTBP1:NM_001166266:exon22:c.A2885G:p.N962S,LTBP1:NM_000627:exon23:c.A3170G:p.N1057S,LTBP1:NM_001166265:exon23:c.A3011G:p.N1004S,LTBP1:NM_206943:exon27:c.A4148G:p.N1383S",T,.,D,D,N,D
chr2,37208898,37208898,G,A,R007_S,HEATR5B,Missense_Mutation,NM_019024,exon36,c.C5951T,p.S1984F,SNP,SNVindel,exonic,HEATR5B,NA,nonsynonymous SNV,HEATR5B:NM_019024:exon36:c.C5951T:p.S1984F,D,D,D,T,D,T
chr2,37287761,37287761,C,T,R007_S,HEATR5B,Nonsense_Mutation,NM_019024,exon12,c.G1812A,p.W604X,SNP,SNVindel,exonic,HEATR5B,NA,stopgain,HEATR5B:NM_019024:exon12:c.G1812A:p.W604X,.,D,A,.,.,.
chr2,37395117,37395117,G,A,R007_S,SULT6B1,Silent,NM_001367551,exon7,c.C873T,p.L291L,SNP,SNVindel,exonic,SULT6B1,NA,synonymous SNV,"SULT6B1:NM_001367551:exon7:c.C873T:p.L291L,SULT6B1:NM_001032377:exon9:c.C759T:p.L253L",NA,NA,NA,NA,NA,NA
chr2,38216684,38216684,G,A,R007_S,RMDN2,Nonsense_Mutation,NM_001170793,exon5,c.G357A,p.W119X,SNP,SNVindel,exonic,RMDN2,NA,stopgain,"RMDN2:NM_001170793:exon5:c.G357A:p.W119X,RMDN2:NM_001170791:exon6:c.G792A:p.W264X,RMDN2:NM_001170792:exon6:c.G792A:p.W264X,RMDN2:NM_001322211:exon6:c.G792A:p.W264X,RMDN2:NM_001322212:exon6:c.G792A:p.W264X,RMDN2:NM_144713:exon6:c.G1326A:p.W442X",.,D,A,.,.,.
chr2,38958905,38958905,C,T,R007_S,GALM,Silent,NM_138801,exon6,c.C805T,p.L269L,SNP,SNVindel,exonic,GALM,NA,synonymous SNV,GALM:NM_138801:exon6:c.C805T:p.L269L,NA,NA,NA,NA,NA,NA
chr2,38976728,38976728,C,T,R007_S,SRSF7,Missense_Mutation,NM_001031684,exon3,c.G329A,p.G110D,SNP,SNVindel,exonic,SRSF7,NA,nonsynonymous SNV,"SRSF7:NM_001031684:exon3:c.G329A:p.G110D,SRSF7:NM_001195446:exon3:c.G329A:p.G110D,SRSF7:NM_001363802:exon3:c.G329A:p.G110D",D,D,D,T,D,D
chr2,39025496,39025496,C,T,R007_S,DHX57,Missense_Mutation,NM_001329963,exon24,c.G3800A,p.C1267Y,SNP,SNVindel,exonic,DHX57,NA,nonsynonymous SNV,"DHX57:NM_001329963:exon24:c.G3800A:p.C1267Y,DHX57:NM_198963:exon24:c.G4106A:p.C1369Y",.,D,D,.,.,T
chr2,39185228,39185228,G,A,R007_S,ARHGEF33,Missense_Mutation,NM_001145451,exon13,c.G1424A,p.G475E,SNP,SNVindel,exonic,ARHGEF33,NA,nonsynonymous SNV,"ARHGEF33:NM_001145451:exon13:c.G1424A:p.G475E,ARHGEF33:NM_001367623:exon13:c.G1424A:p.G475E",D,.,D,T,N,T
chr2,39213233,39213233,C,T,R007_S,SOS1,Missense_Mutation,NM_005633,exon23,c.G3734A,p.G1245D,SNP,SNVindel,exonic,SOS1,NA,nonsynonymous SNV,SOS1:NM_005633:exon23:c.G3734A:p.G1245D,D,N,D,T,N,T
chr2,39239339,39239339,G,A,R007_S,SOS1,Missense_Mutation,NM_005633,exon14,c.C2318T,p.T773I,SNP,SNVindel,exonic,SOS1,NA,nonsynonymous SNV,SOS1:NM_005633:exon14:c.C2318T:p.T773I,T,D,D,T,N,T
chr2,39944283,39944283,G,A,R007_S,TMEM178A,Nonsense_Mutation,NM_001167959,exon4,c.G240A,p.W80X,SNP,SNVindel,exonic,TMEM178A,NA,stopgain,"TMEM178A:NM_001167959:exon4:c.G240A:p.W80X,TMEM178A:NM_152390:exon4:c.G786A:p.W262X",.,D,D,.,.,.
chr2,42490379,42490379,C,T,R007_S,EML4,Missense_Mutation,NM_001145076,exon4,c.C400T,p.R134C,SNP,SNVindel,exonic,EML4,NA,nonsynonymous SNV,"EML4:NM_001145076:exon4:c.C400T:p.R134C,EML4:NM_019063:exon5:c.C574T:p.R192C",D,N,D,T,N,D
chr2,43459997,43459997,G,A,R007_S,THADA,Missense_Mutation,NM_001083953,exon37,c.C5321T,p.A1774V,SNP,SNVindel,exonic,THADA,NA,nonsynonymous SNV,"THADA:NM_001083953:exon37:c.C5321T:p.A1774V,THADA:NM_001345923:exon37:c.C5318T:p.A1773V,THADA:NM_001345924:exon37:c.C5198T:p.A1733V,THADA:NM_022065:exon37:c.C5321T:p.A1774V,THADA:NM_001345925:exon38:c.C5321T:p.A1774V",D,D,D,T,N,T
chr2,43903081,43903081,G,A,R007_S,C1GALT1C1L,Silent,NM_001101330,exon1,c.C381T,p.V127V,SNP,SNVindel,exonic,C1GALT1C1L,NA,synonymous SNV,C1GALT1C1L:NM_001101330:exon1:c.C381T:p.V127V,NA,NA,NA,NA,NA,NA
chr2,43926938,43926938,G,A,R007_S,PLEKHH2,Missense_Mutation,NM_172069,exon8,c.G841A,p.A281T,SNP,SNVindel,exonic,PLEKHH2,NA,nonsynonymous SNV,PLEKHH2:NM_172069:exon8:c.G841A:p.A281T,T,N,N,T,N,T
chr2,43968093,43968093,G,A,R007_S,PLEKHH2,Silent,NM_172069,exon21,c.G3132A,p.Q1044Q,SNP,SNVindel,exonic,PLEKHH2,NA,synonymous SNV,PLEKHH2:NM_172069:exon21:c.G3132A:p.Q1044Q,NA,NA,NA,NA,NA,NA
chr2,47177585,47177585,C,T,R007_S,TTC7A,Missense_Mutation,NM_001288951,exon2,c.C268T,p.P90S,SNP,SNVindel,exonic,TTC7A,NA,nonsynonymous SNV,"TTC7A:NM_001288951:exon2:c.C268T:p.P90S,TTC7A:NM_020458:exon2:c.C268T:p.P90S,TTC7A:NM_001288953:exon3:c.C166T:p.P56S",D,N,D,T,D,T
chr2,48026105,48026105,G,A,R007_S,MSH6,Missense_Mutation,NM_001281492,exon2,c.G593A,p.S198N,SNP,SNVindel,exonic,MSH6,NA,nonsynonymous SNV,"MSH6:NM_001281492:exon2:c.G593A:p.S198N,MSH6:NM_001281493:exon3:c.G77A:p.S26N,MSH6:NM_000179:exon4:c.G983A:p.S328N,MSH6:NM_001281494:exon4:c.G77A:p.S26N",T,N,N,D,N,T
chr2,48027886,48027886,C,T,R007_S,MSH6,Nonsense_Mutation,NM_001281492,exon2,c.C2374T,p.R792X,SNP,SNVindel,exonic,MSH6,NA,stopgain,"MSH6:NM_001281492:exon2:c.C2374T:p.R792X,MSH6:NM_001281493:exon3:c.C1858T:p.R620X,MSH6:NM_000179:exon4:c.C2764T:p.R922X,MSH6:NM_001281494:exon4:c.C1858T:p.R620X",.,D,D,.,.,.
chr2,48028034,48028034,G,A,R007_S,MSH6,Missense_Mutation,NM_001281492,exon2,c.G2522A,p.G841E,SNP,SNVindel,exonic,MSH6,NA,nonsynonymous SNV,"MSH6:NM_001281492:exon2:c.G2522A:p.G841E,MSH6:NM_001281493:exon3:c.G2006A:p.G669E,MSH6:NM_000179:exon4:c.G2912A:p.G971E,MSH6:NM_001281494:exon4:c.G2006A:p.G669E",D,D,D,D,D,D
chr2,48066817,48066817,C,T,R007_S,FBXO11,Silent,NM_001190274,exon2,c.G324A,p.P108P,SNP,SNVindel,exonic,FBXO11,NA,synonymous SNV,"FBXO11:NM_001190274:exon2:c.G324A:p.P108P,FBXO11:NM_025133:exon2:c.G72A:p.P24P",.,.,D,.,.,.
chr2,49190637,49190637,G,A,R007_S,FSHR,Silent,NM_181446,exon9,c.C1245T,p.G415G,SNP,SNVindel,exonic,FSHR,NA,synonymous SNV,"FSHR:NM_181446:exon9:c.C1245T:p.G415G,FSHR:NM_000145:exon10:c.C1323T:p.G441G",NA,NA,NA,NA,NA,NA
chr2,50149143,50149143,G,A,R007_S,NRXN1,Missense_Mutation,NM_001320156,exon3,c.C368T,p.P123L,SNP,SNVindel,exonic,NRXN1,NA,nonsynonymous SNV,"NRXN1:NM_001320156:exon3:c.C368T:p.P123L,NRXN1:NM_001320157:exon3:c.C359T:p.P120L,NRXN1:NM_001330097:exon6:c.C1259T:p.P420L,NRXN1:NM_138735:exon6:c.C1268T:p.P423L,NRXN1:NM_001330091:exon7:c.C1349T:p.P450L,NRXN1:NM_001330092:exon7:c.C1358T:p.P453L,NRXN1:NM_001330087:exon17:c.C4262T:p.P1421L,NRXN1:NM_001330096:exon17:c.C4253T:p.P1418L,NRXN1:NM_001330083:exon18:c.C4298T:p.P1433L,NRXN1:NM_001330088:exon18:c.C4283T:p.P1428L,NRXN1:NM_001330084:exon19:c.C4397T:p.P1466L,NRXN1:NM_001330095:exon20:c.C4322T:p.P1441L,NRXN1:NM_001330077:exon22:c.C4439T:p.P1480L,NRXN1:NM_001330082:exon22:c.C4430T:p.P1477L,NRXN1:NM_001330085:exon22:c.C4436T:p.P1479L,NRXN1:NM_001330094:exon22:c.C4442T:p.P1481L,NRXN1:NM_004801:exon22:c.C4373T:p.P1458L,NRXN1:NM_001330078:exon23:c.C4463T:p.P1488L,NRXN1:NM_001330086:exon23:c.C4454T:p.P1485L,NRXN1:NM_001330093:exon23:c.C4460T:p.P1487L,NRXN1:NM_001135659:exon24:c.C4583T:p.P1528L",T,U,D,T,D,T
chr2,50850603,50850603,G,A,R007_S,NRXN1,Missense_Mutation,NM_001330083,exon3,c.C923T,p.A308V,SNP,SNVindel,exonic,NRXN1,NA,nonsynonymous SNV,"NRXN1:NM_001330083:exon3:c.C923T:p.A308V,NRXN1:NM_001330084:exon3:c.C923T:p.A308V,NRXN1:NM_001330087:exon3:c.C923T:p.A308V,NRXN1:NM_001330096:exon3:c.C923T:p.A308V,NRXN1:NM_001330088:exon4:c.C953T:p.A318V,NRXN1:NM_001330094:exon5:c.C971T:p.A324V,NRXN1:NM_001330077:exon6:c.C983T:p.A328V,NRXN1:NM_001330078:exon6:c.C983T:p.A328V,NRXN1:NM_001330082:exon6:c.C983T:p.A328V,NRXN1:NM_001330085:exon6:c.C983T:p.A328V,NRXN1:NM_001330086:exon6:c.C983T:p.A328V,NRXN1:NM_001330093:exon6:c.C980T:p.A327V,NRXN1:NM_001330095:exon6:c.C983T:p.A328V,NRXN1:NM_004801:exon6:c.C983T:p.A328V,NRXN1:NM_001135659:exon7:c.C1082T:p.A361V",D,D,D,T,D,D
chr2,54128551,54128551,C,T,R007_S,PSME4,Missense_Mutation,NM_014614,exon28,c.G3221A,p.R1074K,SNP,SNVindel,exonic,PSME4,NA,nonsynonymous SNV,PSME4:NM_014614:exon28:c.G3221A:p.R1074K,T,D,D,T,N,T
chr2,54826256,54826256,C,T,R007_S,SPTBN1,Missense_Mutation,NM_178313,exon2,c.C137T,p.T46I,SNP,SNVindel,exonic,SPTBN1,NA,nonsynonymous SNV,"SPTBN1:NM_178313:exon2:c.C137T:p.T46I,SPTBN1:NM_003128:exon3:c.C176T:p.T59I",D,D,D,T,D,D
chr2,55404744,55404744,C,T,R007_S,CLHC1,Missense_Mutation,NM_001353785,exon7,c.G940A,p.G314R,SNP,SNVindel,exonic,CLHC1,NA,nonsynonymous SNV,"CLHC1:NM_001353785:exon7:c.G940A:p.G314R,CLHC1:NM_001353779:exon8:c.G994A:p.G332R,CLHC1:NM_001353782:exon9:c.G1138A:p.G380R,CLHC1:NM_001353786:exon9:c.G994A:p.G332R,CLHC1:NM_001353787:exon9:c.G994A:p.G332R,CLHC1:NM_001135598:exon10:c.G1192A:p.G398R,CLHC1:NM_001353780:exon10:c.G1360A:p.G454R,CLHC1:NM_001353783:exon10:c.G1138A:p.G380R,CLHC1:NM_001353784:exon10:c.G1192A:p.G398R,CLHC1:NM_001353781:exon11:c.G1192A:p.G398R,CLHC1:NM_152385:exon12:c.G1558A:p.G520R",T,D,D,T,D,T
chr2,55481311,55481311,G,A,R007_S,MTIF2,Missense_Mutation,NM_001321004,exon6,c.C530T,p.T177I,SNP,SNVindel,exonic,MTIF2,NA,nonsynonymous SNV,"MTIF2:NM_001321004:exon6:c.C530T:p.T177I,MTIF2:NM_001321001:exon7:c.C530T:p.T177I,MTIF2:NM_001321002:exon7:c.C530T:p.T177I,MTIF2:NM_002453:exon7:c.C530T:p.T177I,MTIF2:NM_001005369:exon8:c.C530T:p.T177I,MTIF2:NM_001321003:exon8:c.C530T:p.T177I",T,N,N,T,N,T
chr2,55771109,55771109,C,T,R007_S,CFAP36,Missense_Mutation,NM_080667,exon8,c.C676T,p.P226S,SNP,SNVindel,exonic,CFAP36,NA,nonsynonymous SNV,"CFAP36:NM_080667:exon8:c.C676T:p.P226S,CFAP36:NM_001282761:exon9:c.C751T:p.P251S",D,N,N,T,N,T
chr2,61145678,61145678,C,T,R007_S,REL,Missense_Mutation,NM_001291746,exon7,c.C790T,p.R264W,SNP,SNVindel,exonic,REL,NA,nonsynonymous SNV,"REL:NM_001291746:exon7:c.C790T:p.R264W,REL:NM_002908:exon7:c.C790T:p.R264W",D,D,D,T,D,T
chr2,61510557,61510557,C,T,R007_S,USP34,Silent,NM_014709,exon36,c.G4860A,p.R1620R,SNP,SNVindel,exonic,USP34,NA,synonymous SNV,USP34:NM_014709:exon36:c.G4860A:p.R1620R,NA,NA,NA,NA,NA,NA
chr2,61712938,61712938,C,T,R007_S,XPO1,Missense_Mutation,NM_003400,exon20,c.G2473A,p.A825T,SNP,SNVindel,exonic,XPO1,NA,nonsynonymous SNV,XPO1:NM_003400:exon20:c.G2473A:p.A825T,D,D,D,T,D,D
chr2,62934336,62934336,G,A,R007_S,EHBP1,Missense_Mutation,NM_001354217,exon1,c.G10A,p.V4I,SNP,SNVindel,exonic,EHBP1,NA,nonsynonymous SNV,"EHBP1:NM_001354217:exon1:c.G10A:p.V4I,EHBP1:NM_001142614:exon2:c.G10A:p.V4I,EHBP1:NM_001142615:exon2:c.G10A:p.V4I,EHBP1:NM_001142616:exon2:c.G10A:p.V4I,EHBP1:NM_001354212:exon2:c.G10A:p.V4I,EHBP1:NM_001354213:exon2:c.G10A:p.V4I,EHBP1:NM_001354214:exon2:c.G10A:p.V4I,EHBP1:NM_001354215:exon2:c.G10A:p.V4I,EHBP1:NM_001354216:exon2:c.G10A:p.V4I,EHBP1:NM_001354218:exon2:c.G10A:p.V4I,EHBP1:NM_001354219:exon2:c.G10A:p.V4I,EHBP1:NM_001354220:exon2:c.G10A:p.V4I,EHBP1:NM_001354221:exon2:c.G10A:p.V4I,EHBP1:NM_001354222:exon2:c.G10A:p.V4I,EHBP1:NM_015252:exon2:c.G10A:p.V4I",D,D,D,T,N,D
chr2,63175427,63175427,C,T,R007_S,EHBP1,Silent,NM_001142614,exon13,c.C1446T,p.S482S,SNP,SNVindel,exonic,EHBP1,NA,synonymous SNV,"EHBP1:NM_001142614:exon13:c.C1446T:p.S482S,EHBP1:NM_001142615:exon13:c.C1446T:p.S482S,EHBP1:NM_001142616:exon13:c.C1446T:p.S482S,EHBP1:NM_001354217:exon13:c.C1551T:p.S517S,EHBP1:NM_001354218:exon13:c.C1446T:p.S482S,EHBP1:NM_001354219:exon13:c.C1446T:p.S482S,EHBP1:NM_001354220:exon13:c.C1446T:p.S482S,EHBP1:NM_001354222:exon13:c.C1446T:p.S482S,EHBP1:NM_001354212:exon14:c.C1551T:p.S517S,EHBP1:NM_001354213:exon14:c.C1551T:p.S517S,EHBP1:NM_001354214:exon14:c.C1551T:p.S517S,EHBP1:NM_001354215:exon14:c.C1551T:p.S517S,EHBP1:NM_001354216:exon14:c.C1551T:p.S517S,EHBP1:NM_001354221:exon14:c.C1551T:p.S517S,EHBP1:NM_015252:exon14:c.C1551T:p.S517S",NA,NA,NA,NA,NA,NA
chr2,63283164,63283164,C,T,R007_S,OTX1,Missense_Mutation,NM_001199770,exon5,c.C778T,p.H260Y,SNP,SNVindel,exonic,OTX1,NA,nonsynonymous SNV,"OTX1:NM_001199770:exon5:c.C778T:p.H260Y,OTX1:NM_014562:exon5:c.C778T:p.H260Y",T,D,D,D,N,D
chr2,64812623,64812623,G,A,R007_S,AFTPH,Silent,NM_001002243,exon8,c.G2523A,p.V841V,SNP,SNVindel,exonic,AFTPH,NA,synonymous SNV,"AFTPH:NM_001002243:exon8:c.G2523A:p.V841V,AFTPH:NM_017657:exon8:c.G2523A:p.V841V,AFTPH:NM_203437:exon9:c.G2607A:p.V869V",NA,NA,NA,NA,NA,NA
chr2,68622812,68622812,G,A,R007_S,PLEK,Missense_Mutation,NM_002664,exon9,c.G917A,p.G306D,SNP,SNVindel,exonic,PLEK,NA,nonsynonymous SNV,PLEK:NM_002664:exon9:c.G917A:p.G306D,T,N,D,T,N,T
chr2,68691972,68691972,C,T,R007_S,FBXO48,Silent,NM_001024680,exon3,c.G306A,p.R102R,SNP,SNVindel,exonic,FBXO48,NA,synonymous SNV,FBXO48:NM_001024680:exon3:c.G306A:p.R102R,NA,NA,NA,NA,NA,NA
chr2,69240686,69240686,G,A,R007_S,ANTXR1,Missense_Mutation,NM_018153,exon1,c.G55A,p.A19T,SNP,SNVindel,exonic,ANTXR1,NA,nonsynonymous SNV,"ANTXR1:NM_018153:exon1:c.G55A:p.A19T,ANTXR1:NM_032208:exon1:c.G55A:p.A19T,ANTXR1:NM_053034:exon1:c.G55A:p.A19T",T,N,D,T,N,T
chr2,69372479,69372479,G,A,R007_S,ANTXR1,Missense_Mutation,NM_018153,exon13,c.G973A,p.G325S,SNP,SNVindel,exonic,ANTXR1,NA,nonsynonymous SNV,ANTXR1:NM_018153:exon13:c.G973A:p.G325S,T,.,N,T,N,T
chr2,69870139,69870139,C,T,R007_S,AAK1,Missense_Mutation,NM_014911,exon2,c.G34A,p.G12S,SNP,SNVindel,exonic,AAK1,NA,nonsynonymous SNV,AAK1:NM_014911:exon2:c.G34A:p.G12S,D,N,D,T,N,T
chr2,70187825,70187825,G,A,R007_S,ASPRV1,Silent,NM_152792,exon1,c.C996T,p.P332P,SNP,SNVindel,exonic,ASPRV1,NA,synonymous SNV,ASPRV1:NM_152792:exon1:c.C996T:p.P332P,NA,NA,NA,NA,NA,NA
chr2,71192131,71192131,C,T,R007_S,ATP6V1B1,Silent,NM_001692,exon14,c.C1422T,p.G474G,SNP,SNVindel,exonic,ATP6V1B1,NA,synonymous SNV,ATP6V1B1:NM_001692:exon14:c.C1422T:p.G474G,NA,NA,NA,NA,NA,NA
chr2,71216946,71216946,C,T,R007_S,TEX261,Missense_Mutation,NM_144582,exon4,c.G305A,p.G102E,SNP,SNVindel,exonic,TEX261,NA,nonsynonymous SNV,TEX261:NM_144582:exon4:c.G305A:p.G102E,D,D,D,.,N,T
chr2,71577230,71577230,G,A,R007_S,ZNF638,Silent,NM_001014972,exon2,c.G1146A,p.R382R,SNP,SNVindel,exonic,ZNF638,NA,synonymous SNV,"ZNF638:NM_001014972:exon2:c.G1146A:p.R382R,ZNF638:NM_001252612:exon2:c.G1146A:p.R382R,ZNF638:NM_001252613:exon2:c.G1146A:p.R382R,ZNF638:NM_014497:exon2:c.G1146A:p.R382R",NA,NA,NA,NA,NA,NA
chr2,71825817,71825817,C,T,R007_S,DYSF,Missense_Mutation,NM_001130976,exon32,c.C3602T,p.A1201V,SNP,SNVindel,exonic,DYSF,NA,nonsynonymous SNV,"DYSF:NM_001130976:exon32:c.C3602T:p.A1201V,DYSF:NM_001130977:exon32:c.C3602T:p.A1201V,DYSF:NM_001130984:exon32:c.C3605T:p.A1202V,DYSF:NM_001130986:exon32:c.C3605T:p.A1202V,DYSF:NM_001130455:exon33:c.C3647T:p.A1216V,DYSF:NM_001130978:exon33:c.C3644T:p.A1215V,DYSF:NM_001130980:exon33:c.C3695T:p.A1232V,DYSF:NM_001130981:exon33:c.C3695T:p.A1232V,DYSF:NM_001130983:exon33:c.C3647T:p.A1216V,DYSF:NM_001130985:exon33:c.C3698T:p.A1233V,DYSF:NM_001130987:exon33:c.C3698T:p.A1233V,DYSF:NM_003494:exon33:c.C3644T:p.A1215V,DYSF:NM_001130979:exon34:c.C3737T:p.A1246V,DYSF:NM_001130982:exon34:c.C3740T:p.A1247V",D,N,N,T,N,T
chr2,71828629,71828629,C,T,R007_S,DYSF,Missense_Mutation,NM_001130976,exon34,c.C3802T,p.P1268S,SNP,SNVindel,exonic,DYSF,NA,nonsynonymous SNV,"DYSF:NM_001130976:exon34:c.C3802T:p.P1268S,DYSF:NM_001130977:exon34:c.C3802T:p.P1268S,DYSF:NM_001130984:exon34:c.C3805T:p.P1269S,DYSF:NM_001130986:exon34:c.C3805T:p.P1269S,DYSF:NM_001130455:exon35:c.C3847T:p.P1283S,DYSF:NM_001130978:exon35:c.C3844T:p.P1282S,DYSF:NM_001130980:exon35:c.C3895T:p.P1299S,DYSF:NM_001130981:exon35:c.C3895T:p.P1299S,DYSF:NM_001130983:exon35:c.C3847T:p.P1283S,DYSF:NM_001130985:exon35:c.C3898T:p.P1300S,DYSF:NM_001130987:exon35:c.C3898T:p.P1300S,DYSF:NM_003494:exon35:c.C3844T:p.P1282S,DYSF:NM_001130979:exon36:c.C3937T:p.P1313S,DYSF:NM_001130982:exon36:c.C3940T:p.P1314S",T,D,D,D,N,D
chr2,72359536,72359536,C,T,R007_S,CYP26B1,Silent,NM_001277742,exon5,c.G1134A,p.V378V,SNP,SNVindel,exonic,CYP26B1,NA,synonymous SNV,"CYP26B1:NM_001277742:exon5:c.G1134A:p.V378V,CYP26B1:NM_019885:exon6:c.G1359A:p.V453V",NA,NA,NA,NA,NA,NA
chr2,73675638,73675638,C,T,R007_S,ALMS1,Missense_Mutation,NM_015120,exon8,c.C1981T,p.P661S,SNP,SNVindel,exonic,ALMS1,NA,nonsynonymous SNV,ALMS1:NM_015120:exon8:c.C1981T:p.P661S,.,N,N,.,.,T
chr2,73677603,73677603,C,T,R007_S,ALMS1,Missense_Mutation,NM_015120,exon8,c.C3946T,p.P1316S,SNP,SNVindel,exonic,ALMS1,NA,nonsynonymous SNV,ALMS1:NM_015120:exon8:c.C3946T:p.P1316S,.,.,N,.,.,T
chr2,73717615,73717615,C,T,R007_S,ALMS1,Silent,NM_015120,exon10,c.C8526T,p.T2842T,SNP,SNVindel,exonic,ALMS1,NA,synonymous SNV,ALMS1:NM_015120:exon10:c.C8526T:p.T2842T,NA,NA,NA,NA,NA,NA
chr2,73799709,73799709,G,A,R007_S,ALMS1,Missense_Mutation,NM_015120,exon16,c.G10702A,p.D3568N,SNP,SNVindel,exonic,ALMS1,NA,nonsynonymous SNV,ALMS1:NM_015120:exon16:c.G10702A:p.D3568N,.,N,N,.,.,T
chr2,74328703,74328703,G,A,R007_S,TET3,Silent,NM_001366022,exon11,c.G4509A,p.L1503L,SNP,SNVindel,exonic,TET3,NA,synonymous SNV,"TET3:NM_001366022:exon11:c.G4509A:p.L1503L,TET3:NM_001287491:exon12:c.G4788A:p.L1596L",NA,NA,NA,NA,NA,NA
chr2,74642880,74642880,G,A,R007_S,C2orf81,Silent,NM_001316766,exon2,c.C139T,p.L47L,SNP,SNVindel,exonic,C2orf81,NA,synonymous SNV,"C2orf81:NM_001316766:exon2:c.C139T:p.L47L,C2orf81:NM_001145054:exon3:c.C433T:p.L145L,C2orf81:NM_001316764:exon3:c.C424T:p.L142L,C2orf81:NM_001316765:exon3:c.C277T:p.L93L",NA,NA,NA,NA,NA,NA
chr2,74689374,74689374,G,A,R007_S,MOGS,Silent,NM_006302,exon4,c.C1542T,p.T514T,SNP,SNVindel,exonic,MOGS,NA,synonymous SNV,"MOGS:NM_006302:exon4:c.C1542T:p.T514T,MOGS:NM_001146158:exon5:c.C1224T:p.T408T",NA,NA,NA,NA,NA,NA
chr2,74726578,74726578,G,A,R007_S,LBX2,Silent,NM_001282430,exon1,c.C87T,p.P29P,SNP,SNVindel,exonic,LBX2,NA,synonymous SNV,LBX2:NM_001282430:exon1:c.C87T:p.P29P,NA,NA,NA,NA,NA,NA
chr2,74902967,74902967,C,T,R007_S,SEMA4F,Missense_Mutation,NM_001271661,exon8,c.C1109T,p.A370V,SNP,SNVindel,exonic,SEMA4F,NA,nonsynonymous SNV,"SEMA4F:NM_001271661:exon8:c.C1109T:p.A370V,SEMA4F:NM_001271662:exon11:c.C1475T:p.A492V,SEMA4F:NM_004263:exon12:c.C1574T:p.A525V",D,D,D,T,D,T
chr2,79348782,79348782,C,T,R007_S,REG1A,Silent,NM_002909,exon3,c.C159T,p.D53D,SNP,SNVindel,exonic,REG1A,NA,synonymous SNV,REG1A:NM_002909:exon3:c.C159T:p.D53D,NA,NA,NA,NA,NA,NA
chr2,80101437,80101437,G,A,R007_S,CTNNA2,Missense_Mutation,NM_001164883,exon6,c.G821A,p.G274D,SNP,SNVindel,exonic,CTNNA2,NA,nonsynonymous SNV,"CTNNA2:NM_001164883:exon6:c.G821A:p.G274D,CTNNA2:NM_001282597:exon6:c.G821A:p.G274D,CTNNA2:NM_001282598:exon6:c.G923A:p.G308D,CTNNA2:NM_004389:exon6:c.G821A:p.G274D",D,D,D,T,D,T
chr2,84846914,84846914,G,A,R007_S,DNAH6,Silent,NM_001370,exon24,c.G3678A,p.K1226K,SNP,SNVindel,exonic,DNAH6,NA,synonymous SNV,DNAH6:NM_001370:exon24:c.G3678A:p.K1226K,NA,NA,NA,NA,NA,NA
chr2,84904184,84904184,C,T,R007_S,DNAH6,Missense_Mutation,NM_001370,exon41,c.C6668T,p.T2223I,SNP,SNVindel,exonic,DNAH6,NA,nonsynonymous SNV,DNAH6:NM_001370:exon41:c.C6668T:p.T2223I,D,.,D,T,D,D
chr2,85041166,85041166,C,T,R007_S,DNAH6,Missense_Mutation,NM_001370,exon75,c.C12070T,p.P4024S,SNP,SNVindel,exonic,DNAH6,NA,nonsynonymous SNV,DNAH6:NM_001370:exon75:c.C12070T:p.P4024S,T,D,D,T,D,T
chr2,85097672,85097672,G,A,R007_S,TRABD2A,Missense_Mutation,NM_001080824,exon2,c.C346T,p.P116S,SNP,SNVindel,exonic,TRABD2A,NA,nonsynonymous SNV,"TRABD2A:NM_001080824:exon2:c.C346T:p.P116S,TRABD2A:NM_001277053:exon2:c.C346T:p.P116S,TRABD2A:NM_001307978:exon2:c.C346T:p.P116S",T,D,D,T,D,T
chr2,85361153,85361153,G,A,R007_S,TCF7L1,Silent,NM_031283,exon2,c.G264A,p.P88P,SNP,SNVindel,exonic,TCF7L1,NA,synonymous SNV,TCF7L1:NM_031283:exon2:c.G264A:p.P88P,NA,NA,NA,NA,NA,NA
chr2,85510655,85510655,C,T,R007_S,TCF7L1,Missense_Mutation,NM_031283,exon4,c.C479T,p.S160F,SNP,SNVindel,exonic,TCF7L1,NA,nonsynonymous SNV,TCF7L1:NM_031283:exon4:c.C479T:p.S160F,D,N,D,D,N,D
chr2,85536416,85536416,G,A,R007_S,TCF7L1,Missense_Mutation,NM_031283,exon12,c.G1598A,p.G533E,SNP,SNVindel,exonic,TCF7L1,NA,nonsynonymous SNV,TCF7L1:NM_031283:exon12:c.G1598A:p.G533E,D,N,D,D,N,D
chr2,85554049,85554049,G,A,R007_S,TGOLN2,Missense_Mutation,NM_001206841,exon2,c.C806T,p.P269L,SNP,SNVindel,exonic,TGOLN2,NA,nonsynonymous SNV,"TGOLN2:NM_001206841:exon2:c.C806T:p.P269L,TGOLN2:NM_001368095:exon2:c.C806T:p.P269L,TGOLN2:NM_001368096:exon2:c.C806T:p.P269L,TGOLN2:NM_006464:exon2:c.C806T:p.P269L",D,.,N,T,D,T
chr2,85778632,85778632,G,A,R007_S,GGCX,Nonsense_Mutation,NM_001142269,exon11,c.C1540T,p.Q514X,SNP,SNVindel,exonic,GGCX,NA,stopgain,"GGCX:NM_001142269:exon11:c.C1540T:p.Q514X,GGCX:NM_000821:exon12:c.C1711T:p.Q571X",.,N,A,.,.,.
chr2,85806147,85806147,G,A,R007_S,VAMP8,Missense_Mutation,NM_003761,exon2,c.G19A,p.G7S,SNP,SNVindel,exonic,VAMP8,NA,nonsynonymous SNV,VAMP8:NM_003761:exon2:c.G19A:p.G7S,T,N,D,.,N,T
chr2,85822910,85822910,C,T,R007_S,RNF181,Silent,NM_016494,exon1,c.C24T,p.H8H,SNP,SNVindel,exonic,RNF181,NA,synonymous SNV,RNF181:NM_016494:exon1:c.C24T:p.H8H,NA,NA,NA,NA,NA,NA
chr2,85843505,85843505,C,T,R007_S,USP39,Missense_Mutation,NM_001256725,exon1,c.C187T,p.P63S,SNP,SNVindel,exonic,USP39,NA,nonsynonymous SNV,"USP39:NM_001256725:exon1:c.C187T:p.P63S,USP39:NM_001256726:exon1:c.C187T:p.P63S,USP39:NM_006590:exon1:c.C187T:p.P63S",T,N,N,T,N,T
chr2,85894806,85894806,C,T,R007_S,SFTPB,Missense_Mutation,NM_000542,exon2,c.G191A,p.G64E,SNP,SNVindel,exonic,SFTPB,NA,nonsynonymous SNV,"SFTPB:NM_000542:exon2:c.G191A:p.G64E,SFTPB:NM_001367281:exon2:c.G191A:p.G64E,SFTPB:NM_198843:exon3:c.G191A:p.G64E",T,N,N,T,N,T
chr2,85922073,85922073,C,T,R007_S,GNLY,Silent,NM_001302758,exon2,c.C87T,p.N29N,SNP,SNVindel,exonic,GNLY,NA,synonymous SNV,GNLY:NM_001302758:exon2:c.C87T:p.N29N,NA,NA,NA,NA,NA,NA
chr2,86297332,86297332,G,A,R007_S,POLR1A,Missense_Mutation,NM_015425,exon13,c.C1675T,p.P559S,SNP,SNVindel,exonic,POLR1A,NA,nonsynonymous SNV,POLR1A:NM_015425:exon13:c.C1675T:p.P559S,D,N,D,T,D,T
chr2,86678290,86678290,A,G,R007_S,KDM3A,Missense_Mutation,NM_001146688,exon4,c.A407G,p.D136G,SNP,SNVindel,exonic,KDM3A,NA,nonsynonymous SNV,"KDM3A:NM_001146688:exon4:c.A407G:p.D136G,KDM3A:NM_018433:exon4:c.A407G:p.D136G",D,D,D,T,N,T
chr2,86992194,86992194,C,T,R007_S,RMND5A,Missense_Mutation,NM_022780,exon5,c.C566T,p.S189F,SNP,SNVindel,exonic,RMND5A,NA,nonsynonymous SNV,RMND5A:NM_022780:exon5:c.C566T:p.S189F,D,D,D,.,D,T
chr2,88485443,88485443,C,T,R007_S,THNSL2,Missense_Mutation,NM_018271,exon8,c.C1256T,p.A419V,SNP,SNVindel,exonic,THNSL2,NA,nonsynonymous SNV,THNSL2:NM_018271:exon8:c.C1256T:p.A419V,D,D,D,T,D,T
chr2,95773950,95773950,G,A,R007_S,MRPS5,Missense_Mutation,NM_001321995,exon5,c.C370T,p.L124F,SNP,SNVindel,exonic,MRPS5,NA,nonsynonymous SNV,"MRPS5:NM_001321995:exon5:c.C370T:p.L124F,MRPS5:NM_031902:exon5:c.C607T:p.L203F",T,N,D,.,D,T
chr2,95846861,95846861,G,T,R007_S,ZNF2,Missense_Mutation,NM_001291604,exon3,c.G48T,p.K16N,SNP,SNVindel,exonic,ZNF2,NA,nonsynonymous SNV,"ZNF2:NM_001291604:exon3:c.G48T:p.K16N,ZNF2:NM_001017396:exon4:c.G162T:p.K54N,ZNF2:NM_001282398:exon4:c.G174T:p.K58N,ZNF2:NM_001291605:exon5:c.G327T:p.K109N,ZNF2:NM_021088:exon5:c.G288T:p.K96N",.,N,N,.,.,T
chr2,96947619,96947619,C,T,R007_S,SNRNP200,Missense_Mutation,NM_014014,exon35,c.G4957A,p.G1653S,SNP,SNVindel,exonic,SNRNP200,NA,nonsynonymous SNV,SNRNP200:NM_014014:exon35:c.G4957A:p.G1653S,T,D,D,D,N,D
chr2,96993302,96993302,C,T,R007_S,ITPRIPL1,Silent,NM_178495,exon1,c.C957T,p.F319F,SNP,SNVindel,exonic,ITPRIPL1,NA,synonymous SNV,"ITPRIPL1:NM_178495:exon1:c.C957T:p.F319F,ITPRIPL1:NM_001163523:exon2:c.C909T:p.F303F,ITPRIPL1:NM_001163524:exon2:c.C909T:p.F303F,ITPRIPL1:NM_001324490:exon2:c.C909T:p.F303F,ITPRIPL1:NM_001008949:exon3:c.C933T:p.F311F",NA,NA,NA,NA,NA,NA
chr2,97315943,97315943,G,A,R007_S,FER1L5,Missense_Mutation,NM_001293083,exon6,c.G421A,p.A141T,SNP,SNVindel,exonic,FER1L5,NA,nonsynonymous SNV,FER1L5:NM_001293083:exon6:c.G421A:p.A141T,.,N,.,.,.,T
chr2,97638305,97638305,C,T,R007_S,FAM178B,Missense_Mutation,NM_001122646,exon2,c.G112A,p.E38K,SNP,SNVindel,exonic,FAM178B,NA,nonsynonymous SNV,FAM178B:NM_001122646:exon2:c.G112A:p.E38K,T,.,N,T,N,T
chr2,98376170,98376170,G,A,R007_S,TMEM131,Silent,NM_015348,exon39,c.C5151T,p.D1717D,SNP,SNVindel,exonic,TMEM131,NA,synonymous SNV,TMEM131:NM_015348:exon39:c.C5151T:p.D1717D,NA,NA,NA,NA,NA,NA
chr2,98809475,98809475,G,A,R007_S,VWA3B,Silent,NM_001345864,exon5,c.G552A,p.K184K,SNP,SNVindel,exonic,VWA3B,NA,synonymous SNV,"VWA3B:NM_001345864:exon5:c.G552A:p.K184K,VWA3B:NM_144992:exon11:c.G1581A:p.K527K",NA,NA,NA,NA,NA,NA
chr2,99169260,99169260,G,A,R007_S,INPP4A,Missense_Mutation,NM_001134225,exon14,c.G1175A,p.G392D,SNP,SNVindel,exonic,INPP4A,NA,nonsynonymous SNV,"INPP4A:NM_001134225:exon14:c.G1175A:p.G392D,INPP4A:NM_001351428:exon14:c.G1175A:p.G392D,INPP4A:NM_001351429:exon14:c.G1175A:p.G392D,INPP4A:NM_001134224:exon15:c.G1190A:p.G397D,INPP4A:NM_001351424:exon15:c.G1193A:p.G398D,INPP4A:NM_001351425:exon15:c.G1193A:p.G398D,INPP4A:NM_001351426:exon15:c.G1193A:p.G398D,INPP4A:NM_001351427:exon15:c.G1190A:p.G397D,INPP4A:NM_001566:exon15:c.G1190A:p.G397D,INPP4A:NM_004027:exon15:c.G1190A:p.G397D",D,N,D,T,N,T
chr2,99170923,99170923,C,T,R007_S,INPP4A,Silent,NM_001134225,exon15,c.C1537T,p.L513L,SNP,SNVindel,exonic,INPP4A,NA,synonymous SNV,"INPP4A:NM_001134225:exon15:c.C1537T:p.L513L,INPP4A:NM_001351428:exon15:c.C1537T:p.L513L,INPP4A:NM_001351429:exon15:c.C1537T:p.L513L,INPP4A:NM_001134224:exon16:c.C1552T:p.L518L,INPP4A:NM_001351424:exon16:c.C1555T:p.L519L,INPP4A:NM_001351425:exon16:c.C1555T:p.L519L,INPP4A:NM_001351426:exon16:c.C1555T:p.L519L,INPP4A:NM_001351427:exon16:c.C1552T:p.L518L,INPP4A:NM_001566:exon16:c.C1552T:p.L518L,INPP4A:NM_004027:exon16:c.C1552T:p.L518L",NA,NA,NA,NA,NA,NA
chr2,99725880,99725880,C,T,R007_S,TSGA10,Missense_Mutation,NM_001349012,exon4,c.G23A,p.S8N,SNP,SNVindel,exonic,TSGA10,NA,nonsynonymous SNV,"TSGA10:NM_001349012:exon4:c.G23A:p.S8N,TSGA10:NM_001349013:exon5:c.G23A:p.S8N,TSGA10:NM_001349014:exon5:c.G23A:p.S8N,TSGA10:NM_182911:exon5:c.G23A:p.S8N,TSGA10:NM_025244:exon6:c.G23A:p.S8N",T,D,D,T,N,T
chr2,99976977,99976977,G,A,R007_S,EIF5B,Missense_Mutation,NM_015904,exon3,c.G211A,p.G71S,SNP,SNVindel,exonic,EIF5B,NA,nonsynonymous SNV,EIF5B:NM_015904:exon3:c.G211A:p.G71S,D,.,D,T,N,T
chr2,100911952,100911952,G,A,R007_S,LONRF2,Missense_Mutation,NM_198461,exon8,c.C1540T,p.P514S,SNP,SNVindel,exonic,LONRF2,NA,nonsynonymous SNV,LONRF2:NM_198461:exon8:c.C1540T:p.P514S,T,N,N,D,D,T
chr2,101010048,101010048,G,A,R007_S,CHST10,Missense_Mutation,NM_004854,exon7,c.C730T,p.L244F,SNP,SNVindel,exonic,CHST10,NA,nonsynonymous SNV,CHST10:NM_004854:exon7:c.C730T:p.L244F,D,D,D,T,D,D
chr2,101611961,101611961,C,T,R007_S,NPAS2,Missense_Mutation,NM_002518,exon21,c.C2392T,p.P798S,SNP,SNVindel,exonic,NPAS2,NA,nonsynonymous SNV,NPAS2:NM_002518:exon21:c.C2392T:p.P798S,T,N,N,T,N,T
chr2,102019101,102019101,G,A,R007_S,RFX8,Missense_Mutation,NM_001367510,exon10,c.C529T,p.P177S,SNP,SNVindel,exonic,RFX8,NA,nonsynonymous SNV,"RFX8:NM_001367510:exon10:c.C529T:p.P177S,RFX8:NM_001145664:exon11:c.C1042T:p.P348S,RFX8:NM_001367508:exon12:c.C529T:p.P177S,RFX8:NM_001367509:exon13:c.C529T:p.P177S",T,N,N,T,N,T
chr2,102959624,102959624,G,A,R007_S,IL1RL1,Missense_Mutation,NM_001282408,exon6,c.G460A,p.G154R,SNP,SNVindel,exonic,IL1RL1,NA,nonsynonymous SNV,"IL1RL1:NM_001282408:exon6:c.G460A:p.G154R,IL1RL1:NM_003856:exon7:c.G811A:p.G271R,IL1RL1:NM_016232:exon7:c.G811A:p.G271R",T,N,N,T,N,T
chr2,103141546,103141546,C,T,R007_S,SLC9A4,Silent,NM_001011552,exon10,c.C1882T,p.L628L,SNP,SNVindel,exonic,SLC9A4,NA,synonymous SNV,SLC9A4:NM_001011552:exon10:c.C1882T:p.L628L,NA,NA,NA,NA,NA,NA
chr2,103353189,103353189,C,T,R007_S,MFSD9,Silent,NM_032718,exon1,c.G81A,p.K27K,SNP,SNVindel,exonic,MFSD9,NA,synonymous SNV,MFSD9:NM_032718:exon1:c.G81A:p.K27K,NA,NA,NA,NA,NA,NA
chr2,107459953,107459953,C,T,R007_S,ST6GAL2,Missense_Mutation,NM_001142351,exon2,c.G481A,p.G161R,SNP,SNVindel,exonic,ST6GAL2,NA,nonsynonymous SNV,"ST6GAL2:NM_001142351:exon2:c.G481A:p.G161R,ST6GAL2:NM_001142352:exon2:c.G481A:p.G161R,ST6GAL2:NM_001322362:exon2:c.G481A:p.G161R,ST6GAL2:NM_032528:exon2:c.G481A:p.G161R",T,N,N,T,N,T
chr2,109379717,109379717,C,T,R007_S,RANBP2,Missense_Mutation,NM_006267,exon20,c.C2722T,p.L908F,SNP,SNVindel,exonic,RANBP2,NA,nonsynonymous SNV,RANBP2:NM_006267:exon20:c.C2722T:p.L908F,D,.,D,T,N,T
chr2,109382172,109382172,G,A,R007_S,RANBP2,Missense_Mutation,NM_006267,exon20,c.G5177A,p.G1726E,SNP,SNVindel,exonic,RANBP2,NA,nonsynonymous SNV,RANBP2:NM_006267:exon20:c.G5177A:p.G1726E,D,.,D,T,D,D
chr2,110048975,110048975,C,T,R007_S,SH3RF3,Silent,NM_001099289,exon6,c.C1422T,p.A474A,SNP,SNVindel,exonic,SH3RF3,NA,synonymous SNV,SH3RF3:NM_001099289:exon6:c.C1422T:p.A474A,NA,NA,NA,NA,NA,NA
chr2,110342892,110342892,G,A,R007_S,SEPTIN10,Missense_Mutation,NM_001321500,exon3,c.C155T,p.T52I,SNP,SNVindel,exonic,SEPTIN10,NA,nonsynonymous SNV,"SEPTIN10:NM_001321500:exon3:c.C155T:p.T52I,SEPTIN10:NM_001321502:exon3:c.C155T:p.T52I,SEPTIN10:NM_001321515:exon3:c.C128T:p.T43I,SEPTIN10:NM_178584:exon3:c.C155T:p.T52I,SEPTIN10:NM_001321498:exon4:c.C224T:p.T75I,SEPTIN10:NM_001321501:exon4:c.C98T:p.T33I,SEPTIN10:NM_001321509:exon4:c.C98T:p.T33I,SEPTIN10:NM_001321512:exon4:c.C224T:p.T75I,SEPTIN10:NM_001321513:exon4:c.C197T:p.T66I,SEPTIN10:NM_001321514:exon4:c.C179T:p.T60I,SEPTIN10:NM_144710:exon4:c.C224T:p.T75I",D,D,D,T,D,T
chr2,110373206,110373206,G,A,R007_S,SOWAHC,Silent,NM_023016,exon1,c.G1140A,p.Q380Q,SNP,SNVindel,exonic,SOWAHC,NA,synonymous SNV,SOWAHC:NM_023016:exon1:c.G1140A:p.Q380Q,NA,NA,NA,NA,NA,NA
chr2,112922626,112922626,G,A,R007_S,FBLN7,Missense_Mutation,NM_001128165,exon3,c.G284A,p.S95N,SNP,SNVindel,exonic,FBLN7,NA,nonsynonymous SNV,"FBLN7:NM_001128165:exon3:c.G284A:p.S95N,FBLN7:NM_153214:exon3:c.G284A:p.S95N",T,D,D,T,N,T
chr2,112994227,112994227,C,T,R007_S,ZC3H8,Missense_Mutation,NM_032494,exon4,c.G416A,p.G139D,SNP,SNVindel,exonic,ZC3H8,NA,nonsynonymous SNV,ZC3H8:NM_032494:exon4:c.G416A:p.G139D,D,N,D,T,D,T
chr2,113089069,113089069,G,A,R007_S,ZC3H6,Silent,NM_198581,exon12,c.G2574A,p.Q858Q,SNP,SNVindel,exonic,ZC3H6,NA,synonymous SNV,ZC3H6:NM_198581:exon12:c.G2574A:p.Q858Q,NA,NA,NA,NA,NA,NA
chr2,113496574,113496574,C,T,R007_S,CKAP2L,Silent,NM_001304361,exon9,c.G1569A,p.R523R,SNP,SNVindel,exonic,CKAP2L,NA,synonymous SNV,"CKAP2L:NM_001304361:exon9:c.G1569A:p.R523R,CKAP2L:NM_152515:exon9:c.G2064A:p.R688R",NA,NA,NA,NA,NA,NA
chr2,113671370,113671370,C,T,R007_S,IL37,Silent,NM_014439,exon2,c.C84T,p.D28D,SNP,SNVindel,exonic,IL37,NA,synonymous SNV,"IL37:NM_014439:exon2:c.C84T:p.D28D,IL37:NM_173204:exon2:c.C84T:p.D28D",NA,NA,NA,NA,NA,NA
chr2,113942535,113942535,G,A,R007_S,PSD4,Missense_Mutation,NM_012455,exon3,c.G1058A,p.G353E,SNP,SNVindel,exonic,PSD4,NA,nonsynonymous SNV,PSD4:NM_012455:exon3:c.G1058A:p.G353E,T,N,N,T,N,T
chr2,121047199,121047199,C,T,R007_S,RALB,Silent,NM_001369400,exon4,c.C367T,p.L123L,SNP,SNVindel,exonic,RALB,NA,synonymous SNV,"RALB:NM_001369400:exon4:c.C367T:p.L123L,RALB:NM_002881:exon4:c.C367T:p.L123L",NA,NA,NA,NA,NA,NA
chr2,122176265,122176265,C,T,R007_S,CLASP1,Silent,NM_015282,exon23,c.G2253A,p.G751G,SNP,SNVindel,exonic,CLASP1,NA,synonymous SNV,CLASP1:NM_015282:exon23:c.G2253A:p.G751G,NA,NA,NA,NA,NA,NA
chr2,125175089,125175089,T,A,R007_S,CNTNAP5,Missense_Mutation,NM_001367498,exon4,c.T451A,p.F151I,SNP,SNVindel,exonic,CNTNAP5,NA,nonsynonymous SNV,"CNTNAP5:NM_001367498:exon4:c.T451A:p.F151I,CNTNAP5:NM_130773:exon4:c.T451A:p.F151I",D,D,D,D,D,D
chr2,125262058,125262058,C,T,R007_S,CNTNAP5,Silent,NM_001367498,exon8,c.C1252T,p.L418L,SNP,SNVindel,exonic,CNTNAP5,NA,synonymous SNV,"CNTNAP5:NM_001367498:exon8:c.C1252T:p.L418L,CNTNAP5:NM_130773:exon8:c.C1249T:p.L417L",NA,NA,NA,NA,NA,NA
chr2,127864491,127864491,G,A,R007_S,BIN1,Missense_Mutation,NM_001320632,exon1,c.C29T,p.T10M,SNP,SNVindel,exonic,BIN1,NA,nonsynonymous SNV,"BIN1:NM_001320632:exon1:c.C29T:p.T10M,BIN1:NM_001320633:exon1:c.C29T:p.T10M,BIN1:NM_001320640:exon1:c.C29T:p.T10M,BIN1:NM_001320641:exon1:c.C29T:p.T10M,BIN1:NM_004305:exon1:c.C29T:p.T10M,BIN1:NM_139343:exon1:c.C29T:p.T10M,BIN1:NM_139344:exon1:c.C29T:p.T10M,BIN1:NM_139345:exon1:c.C29T:p.T10M,BIN1:NM_139346:exon1:c.C29T:p.T10M,BIN1:NM_139347:exon1:c.C29T:p.T10M,BIN1:NM_139348:exon1:c.C29T:p.T10M,BIN1:NM_139349:exon1:c.C29T:p.T10M,BIN1:NM_139350:exon1:c.C29T:p.T10M,BIN1:NM_139351:exon1:c.C29T:p.T10M",D,D,D,T,D,T
chr2,128384642,128384642,G,A,R007_S,MYO7B,Silent,NM_001080527,exon31,c.G4230A,p.R1410R,SNP,SNVindel,exonic,MYO7B,NA,synonymous SNV,MYO7B:NM_001080527:exon31:c.G4230A:p.R1410R,NA,NA,NA,NA,NA,NA
chr2,128384820,128384820,G,A,R007_S,MYO7B,Silent,NM_001080527,exon32,c.G4317A,p.L1439L,SNP,SNVindel,exonic,MYO7B,NA,synonymous SNV,MYO7B:NM_001080527:exon32:c.G4317A:p.L1439L,NA,NA,NA,NA,NA,NA
chr2,128408932,128408932,C,A,R007_S,GPR17,Missense_Mutation,NM_001161417,exon2,c.C623A,p.T208K,SNP,SNVindel,exonic,GPR17,NA,nonsynonymous SNV,"GPR17:NM_001161417:exon2:c.C623A:p.T208K,GPR17:NM_001161416:exon3:c.C623A:p.T208K,GPR17:NM_005291:exon3:c.C707A:p.T236K,GPR17:NM_001161415:exon4:c.C707A:p.T236K",D,D,D,T,N,T
chr2,128939725,128939725,G,A,R007_S,UGGT1,Missense_Mutation,NM_020120,exon37,c.G4105A,p.E1369K,SNP,SNVindel,exonic,UGGT1,NA,nonsynonymous SNV,UGGT1:NM_020120:exon37:c.G4105A:p.E1369K,D,D,D,T,D,T
chr2,131521578,131521578,C,T,R007_S,AMER3,Missense_Mutation,NM_001105193,exon2,c.C1933T,p.P645S,SNP,SNVindel,exonic,AMER3,NA,nonsynonymous SNV,"AMER3:NM_001105193:exon2:c.C1933T:p.P645S,AMER3:NM_001105194:exon2:c.C1933T:p.P645S,AMER3:NM_001105195:exon2:c.C1933T:p.P645S,AMER3:NM_152698:exon2:c.C1933T:p.P645S",D,N,N,T,N,T
chr2,131673408,131673408,C,T,R007_S,ARHGEF4,Missense_Mutation,NM_001367493,exon2,c.C1889T,p.A630V,SNP,SNVindel,exonic,ARHGEF4,NA,nonsynonymous SNV,ARHGEF4:NM_001367493:exon2:c.C1889T:p.A630V,D,.,N,T,N,T
chr2,131674833,131674833,G,A,R007_S,ARHGEF4,Missense_Mutation,NM_001367493,exon2,c.G3314A,p.G1105D,SNP,SNVindel,exonic,ARHGEF4,NA,nonsynonymous SNV,ARHGEF4:NM_001367493:exon2:c.G3314A:p.G1105D,T,.,N,T,N,T
chr2,131675053,131675053,G,A,R007_S,ARHGEF4,Silent,NM_001367493,exon2,c.G3534A,p.R1178R,SNP,SNVindel,exonic,ARHGEF4,NA,synonymous SNV,ARHGEF4:NM_001367493:exon2:c.G3534A:p.R1178R,NA,NA,NA,NA,NA,NA
chr2,131785566,131785566,G,A,R007_S,ARHGEF4,Missense_Mutation,NM_001367493,exon5,c.G4034A,p.G1345E,SNP,SNVindel,exonic,ARHGEF4,NA,nonsynonymous SNV,"ARHGEF4:NM_001367493:exon5:c.G4034A:p.G1345E,ARHGEF4:NM_015320:exon6:c.G476A:p.G159E",D,D,D,T,D,T
chr2,132021658,132021658,G,A,R007_S,POTEE,Missense_Mutation,NM_001083538,exon15,c.G2630A,p.R877H,SNP,SNVindel,exonic,POTEE,NA,nonsynonymous SNV,POTEE:NM_001083538:exon15:c.G2630A:p.R877H,D,.,D,D,D,D
chr2,132120928,132120928,C,T,R007_S,RAB6D,Silent,NM_001077637,exon1,c.G366A,p.T122T,SNP,SNVindel,exonic,RAB6D,NA,synonymous SNV,RAB6D:NM_001077637:exon1:c.G366A:p.T122T,NA,NA,NA,NA,NA,NA
chr2,133539875,133539875,C,T,R007_S,NCKAP5,Silent,NM_207363,exon14,c.G4509A,p.G1503G,SNP,SNVindel,exonic,NCKAP5,NA,synonymous SNV,NCKAP5:NM_207363:exon14:c.G4509A:p.G1503G,NA,NA,NA,NA,NA,NA
chr2,133540667,133540667,C,T,R007_S,NCKAP5,Silent,NM_207363,exon14,c.G3717A,p.G1239G,SNP,SNVindel,exonic,NCKAP5,NA,synonymous SNV,NCKAP5:NM_207363:exon14:c.G3717A:p.G1239G,NA,NA,NA,NA,NA,NA
chr2,136396589,136396589,G,A,R007_S,R3HDM1,Silent,NM_001282800,exon11,c.G948A,p.L316L,SNP,SNVindel,exonic,R3HDM1,NA,synonymous SNV,"R3HDM1:NM_001282800:exon11:c.G948A:p.L316L,R3HDM1:NM_001282799:exon12:c.G984A:p.L328L,R3HDM1:NM_001282798:exon14:c.G1116A:p.L372L,R3HDM1:NM_001354199:exon14:c.G1116A:p.L372L,R3HDM1:NM_001354200:exon14:c.G1116A:p.L372L,R3HDM1:NM_015361:exon14:c.G1116A:p.L372L",NA,NA,NA,NA,NA,NA
chr2,136467003,136467003,C,T,R007_S,R3HDM1,Silent,NM_001282799,exon18,c.C1971T,p.S657S,SNP,SNVindel,exonic,R3HDM1,NA,synonymous SNV,"R3HDM1:NM_001282799:exon18:c.C1971T:p.S657S,R3HDM1:NM_001282800:exon18:c.C2190T:p.S730S,R3HDM1:NM_001282798:exon21:c.C2358T:p.S786S,R3HDM1:NM_001354199:exon21:c.C2355T:p.S785S,R3HDM1:NM_001354200:exon21:c.C2358T:p.S786S,R3HDM1:NM_015361:exon21:c.C2355T:p.S785S",NA,NA,NA,NA,NA,NA
chr2,136566507,136566507,G,A,R007_S,LCT,Missense_Mutation,NM_002299,exon8,c.C3410T,p.P1137L,SNP,SNVindel,exonic,LCT,NA,nonsynonymous SNV,LCT:NM_002299:exon8:c.C3410T:p.P1137L,T,N,N,T,D,T
chr2,136567214,136567214,C,T,R007_S,LCT,Silent,NM_002299,exon8,c.G2703A,p.G901G,SNP,SNVindel,exonic,LCT,NA,synonymous SNV,LCT:NM_002299:exon8:c.G2703A:p.G901G,NA,NA,NA,NA,NA,NA
chr2,136567375,136567375,G,A,R007_S,LCT,Missense_Mutation,NM_002299,exon8,c.C2542T,p.L848F,SNP,SNVindel,exonic,LCT,NA,nonsynonymous SNV,LCT:NM_002299:exon8:c.C2542T:p.L848F,T,N,N,T,N,T
chr2,136603884,136603884,G,A,R007_S,MCM6,Missense_Mutation,NM_005915,exon15,c.C2132T,p.A711V,SNP,SNVindel,exonic,MCM6,NA,nonsynonymous SNV,MCM6:NM_005915:exon15:c.C2132T:p.A711V,T,D,D,T,N,T
chr2,136623821,136623821,C,T,R007_S,MCM6,Missense_Mutation,NM_005915,exon6,c.G808A,p.V270I,SNP,SNVindel,exonic,MCM6,NA,nonsynonymous SNV,MCM6:NM_005915:exon6:c.G808A:p.V270I,T,D,D,T,N,T
chr2,141283863,141283863,A,C,R007_S,LRP1B,Missense_Mutation,NM_018557,exon48,c.T7819G,p.S2607A,SNP,SNVindel,exonic,LRP1B,NA,nonsynonymous SNV,LRP1B:NM_018557:exon48:c.T7819G:p.S2607A,D,D,D,D,N,D
chr2,141283908,141283908,C,T,R007_S,LRP1B,Missense_Mutation,NM_018557,exon48,c.G7774A,p.A2592T,SNP,SNVindel,exonic,LRP1B,NA,nonsynonymous SNV,LRP1B:NM_018557:exon48:c.G7774A:p.A2592T,T,N,N,D,N,T
chr2,141474291,141474291,G,A,R007_S,LRP1B,Silent,NM_018557,exon36,c.C5853T,p.G1951G,SNP,SNVindel,exonic,LRP1B,NA,synonymous SNV,LRP1B:NM_018557:exon36:c.C5853T:p.G1951G,NA,NA,NA,NA,NA,NA
chr2,141598518,141598518,G,A,R007_S,LRP1B,Missense_Mutation,NM_018557,exon30,c.C5083T,p.P1695S,SNP,SNVindel,exonic,LRP1B,NA,nonsynonymous SNV,LRP1B:NM_018557:exon30:c.C5083T:p.P1695S,D,U,D,D,D,D
chr2,148684790,148684790,G,A,R007_S,ACVR2A,Missense_Mutation,NM_001278580,exon11,c.G1165A,p.V389M,SNP,SNVindel,exonic,ACVR2A,NA,nonsynonymous SNV,"ACVR2A:NM_001278580:exon11:c.G1165A:p.V389M,ACVR2A:NM_001616:exon11:c.G1489A:p.V497M,ACVR2A:NM_001278579:exon12:c.G1489A:p.V497M",T,N,D,D,N,T
chr2,149226488,149226488,G,A,R007_S,MBD5,Missense_Mutation,NM_018328,exon9,c.G976A,p.A326T,SNP,SNVindel,exonic,MBD5,NA,nonsynonymous SNV,MBD5:NM_018328:exon9:c.G976A:p.A326T,D,D,D,T,N,T
chr2,149227341,149227341,G,A,R007_S,MBD5,Missense_Mutation,NM_018328,exon9,c.G1829A,p.G610D,SNP,SNVindel,exonic,MBD5,NA,nonsynonymous SNV,MBD5:NM_018328:exon9:c.G1829A:p.G610D,D,N,N,T,N,T
chr2,152107807,152107807,G,A,R007_S,RBM43,Silent,NM_198557,exon4,c.C687T,p.Y229Y,SNP,SNVindel,exonic,RBM43,NA,synonymous SNV,RBM43:NM_198557:exon4:c.C687T:p.Y229Y,NA,NA,NA,NA,NA,NA
chr2,152314412,152314412,G,A,R007_S,RIF1,Silent,NM_001177665,exon23,c.G2790A,p.Q930Q,SNP,SNVindel,exonic,RIF1,NA,synonymous SNV,"RIF1:NM_001177665:exon23:c.G2790A:p.Q930Q,RIF1:NM_001177663:exon24:c.G2790A:p.Q930Q,RIF1:NM_001177664:exon24:c.G2790A:p.Q930Q,RIF1:NM_018151:exon24:c.G2790A:p.Q930Q",NA,NA,NA,NA,NA,NA
chr2,152370932,152370932,C,T,R007_S,NEB,Missense_Mutation,NM_004543,exon132,c.G17924A,p.R5975K,SNP,SNVindel,exonic,NEB,NA,nonsynonymous SNV,"NEB:NM_004543:exon132:c.G17924A:p.R5975K,NEB:NM_001164507:exon159:c.G23027A:p.R7676K,NEB:NM_001164508:exon159:c.G23027A:p.R7676K,NEB:NM_001271208:exon160:c.G23132A:p.R7711K",T,D,D,T,N,T
chr2,153486365,153486365,G,A,R007_S,FMNL2,Missense_Mutation,NM_052905,exon20,c.G2496A,p.M832I,SNP,SNVindel,exonic,FMNL2,NA,nonsynonymous SNV,FMNL2:NM_052905:exon20:c.G2496A:p.M832I,D,D,D,T,D,D
chr2,153526798,153526798,G,A,R007_S,PRPF40A,Missense_Mutation,NM_001365598,exon14,c.C1649T,p.A550V,SNP,SNVindel,exonic,PRPF40A,NA,nonsynonymous SNV,"PRPF40A:NM_001365598:exon14:c.C1649T:p.A550V,PRPF40A:NM_001365599:exon14:c.C1649T:p.A550V,PRPF40A:NM_001365601:exon14:c.C1523T:p.A508V,PRPF40A:NM_001354431:exon15:c.C1523T:p.A508V,PRPF40A:NM_001365596:exon15:c.C1703T:p.A568V,PRPF40A:NM_001365597:exon15:c.C1703T:p.A568V,PRPF40A:NM_001365600:exon15:c.C1577T:p.A526V,PRPF40A:NM_001365604:exon15:c.C1355T:p.A452V,PRPF40A:NM_001365605:exon15:c.C1355T:p.A452V,PRPF40A:NM_017892:exon15:c.C1577T:p.A526V,PRPF40A:NM_001365602:exon16:c.C1409T:p.A470V,PRPF40A:NM_001365603:exon16:c.C1409T:p.A470V,PRPF40A:NM_001354432:exon17:c.C1361T:p.A454V",D,D,D,T,D,T
chr2,155555632,155555632,C,T,R007_S,KCNJ3,Silent,NM_001260508,exon1,c.C345T,p.A115A,SNP,SNVindel,exonic,KCNJ3,NA,synonymous SNV,"KCNJ3:NM_001260508:exon1:c.C345T:p.A115A,KCNJ3:NM_001260509:exon1:c.C345T:p.A115A,KCNJ3:NM_001260510:exon1:c.C345T:p.A115A,KCNJ3:NM_002239:exon1:c.C345T:p.A115A",NA,NA,NA,NA,NA,NA
chr2,155555779,155555779,C,T,R007_S,KCNJ3,Silent,NM_001260508,exon1,c.C492T,p.F164F,SNP,SNVindel,exonic,KCNJ3,NA,synonymous SNV,"KCNJ3:NM_001260508:exon1:c.C492T:p.F164F,KCNJ3:NM_001260509:exon1:c.C492T:p.F164F,KCNJ3:NM_001260510:exon1:c.C492T:p.F164F,KCNJ3:NM_002239:exon1:c.C492T:p.F164F",NA,NA,NA,NA,NA,NA
chr2,158272587,158272587,G,A,R007_S,CYTIP,Missense_Mutation,NM_004288,exon8,c.C682T,p.P228S,SNP,SNVindel,exonic,CYTIP,NA,nonsynonymous SNV,CYTIP:NM_004288:exon8:c.C682T:p.P228S,T,N,N,T,N,T
chr2,158399277,158399277,C,T,R007_S,ACVR1C,Silent,NM_001111033,exon4,c.G570A,p.K190K,SNP,SNVindel,exonic,ACVR1C,NA,synonymous SNV,"ACVR1C:NM_001111033:exon4:c.G570A:p.K190K,ACVR1C:NM_001111032:exon5:c.G801A:p.K267K,ACVR1C:NM_001111031:exon6:c.G891A:p.K297K,ACVR1C:NM_145259:exon6:c.G1041A:p.K347K",NA,NA,NA,NA,NA,NA
chr2,160206392,160206392,G,A,R007_S,BAZ2B,Missense_Mutation,NM_001289975,exon27,c.C4582T,p.P1528S,SNP,SNVindel,exonic,BAZ2B,NA,nonsynonymous SNV,"BAZ2B:NM_001289975:exon27:c.C4582T:p.P1528S,BAZ2B:NM_001329857:exon28:c.C4528T:p.P1510S,BAZ2B:NM_001329858:exon28:c.C4615T:p.P1539S,BAZ2B:NM_013450:exon28:c.C4690T:p.P1564S",T,U,D,D,D,D
chr2,160599593,160599593,G,A,R007_S,MARCHF7,Missense_Mutation,NM_001282807,exon2,c.G61A,p.A21T,SNP,SNVindel,exonic,MARCHF7,NA,nonsynonymous SNV,"MARCHF7:NM_001282807:exon2:c.G61A:p.A21T,MARCHF7:NM_001282806:exon3:c.G175A:p.A59T,MARCHF7:NM_022826:exon3:c.G175A:p.A59T,MARCHF7:NM_001282805:exon5:c.G175A:p.A59T",T,N,N,T,N,T
chr2,160807990,160807990,G,A,R007_S,PLA2R1,Missense_Mutation,NM_001007267,exon24,c.C3401T,p.T1134I,SNP,SNVindel,exonic,PLA2R1,NA,nonsynonymous SNV,"PLA2R1:NM_001007267:exon24:c.C3401T:p.T1134I,PLA2R1:NM_001195641:exon24:c.C3401T:p.T1134I,PLA2R1:NM_007366:exon24:c.C3401T:p.T1134I",D,D,D,T,D,T
chr2,160983032,160983032,C,T,R007_S,ITGB6,Missense_Mutation,NM_001282354,exon9,c.G1456A,p.D486N,SNP,SNVindel,exonic,ITGB6,NA,nonsynonymous SNV,"ITGB6:NM_001282354:exon9:c.G1456A:p.D486N,ITGB6:NM_001282388:exon10:c.G1615A:p.D539N,ITGB6:NM_001282390:exon10:c.G1327A:p.D443N,ITGB6:NM_000888:exon11:c.G1741A:p.D581N,ITGB6:NM_001282389:exon11:c.G1522A:p.D508N,ITGB6:NM_001282353:exon12:c.G1741A:p.D581N",T,D,D,D,N,T
chr2,163044716,163044716,C,T,R007_S,FAP,Missense_Mutation,NM_001291807,exon19,c.G1702A,p.G568S,SNP,SNVindel,exonic,FAP,NA,nonsynonymous SNV,"FAP:NM_001291807:exon19:c.G1702A:p.G568S,FAP:NM_004460:exon20:c.G1777A:p.G593S",D,D,D,T,D,T
chr2,163174657,163174657,C,T,R007_S,IFIH1,Missense_Mutation,NM_022168,exon1,c.G161A,p.G54E,SNP,SNVindel,exonic,IFIH1,NA,nonsynonymous SNV,IFIH1:NM_022168:exon1:c.G161A:p.G54E,D,D,D,T,D,T
chr2,163228364,163228364,G,A,R007_S,KCNH7,Missense_Mutation,NM_033272,exon16,c.C3566T,p.S1189F,SNP,SNVindel,exonic,KCNH7,NA,nonsynonymous SNV,KCNH7:NM_033272:exon16:c.C3566T:p.S1189F,D,D,D,D,D,D
chr2,164468243,164468243,C,T,R007_S,FIGN,Silent,NM_001321825,exon2,c.G66A,p.R22R,SNP,SNVindel,exonic,FIGN,NA,synonymous SNV,"FIGN:NM_001321825:exon2:c.G66A:p.R22R,FIGN:NM_018086:exon3:c.G99A:p.R33R",NA,NA,NA,NA,NA,NA
chr2,165551230,165551230,G,A,R007_S,COBLL1,Missense_Mutation,NM_001278461,exon11,c.C2672T,p.A891V,SNP,SNVindel,exonic,COBLL1,NA,nonsynonymous SNV,"COBLL1:NM_001278461:exon11:c.C2672T:p.A891V,COBLL1:NM_001278460:exon12:c.C2810T:p.A937V,COBLL1:NM_001365670:exon12:c.C2807T:p.A936V,COBLL1:NM_001365672:exon12:c.C2672T:p.A891V,COBLL1:NM_001365673:exon12:c.C2672T:p.A891V,COBLL1:NM_014900:exon12:c.C2786T:p.A929V,COBLL1:NM_001365671:exon13:c.C2849T:p.A950V,COBLL1:NM_001365674:exon13:c.C2711T:p.A904V,COBLL1:NM_001365675:exon13:c.C2711T:p.A904V,COBLL1:NM_001278458:exon15:c.C2987T:p.A996V",D,N,N,.,N,T
chr2,165578765,165578765,C,T,R007_S,COBLL1,Silent,NM_001278461,exon6,c.G816A,p.R272R,SNP,SNVindel,exonic,COBLL1,NA,synonymous SNV,"COBLL1:NM_001278461:exon6:c.G816A:p.R272R,COBLL1:NM_014900:exon6:c.G816A:p.R272R,COBLL1:NM_001278460:exon7:c.G954A:p.R318R,COBLL1:NM_001365670:exon7:c.G954A:p.R318R,COBLL1:NM_001365672:exon7:c.G816A:p.R272R,COBLL1:NM_001365673:exon7:c.G816A:p.R272R,COBLL1:NM_001365671:exon8:c.G993A:p.R331R,COBLL1:NM_001365674:exon8:c.G855A:p.R285R,COBLL1:NM_001365675:exon8:c.G855A:p.R285R,COBLL1:NM_001278458:exon9:c.G1014A:p.R338R",NA,NA,NA,NA,NA,NA
chr2,167056230,167056230,G,A,R007_S,SCN9A,Missense_Mutation,NM_001365536,exon27,c.C4919T,p.S1640F,SNP,SNVindel,exonic,SCN9A,NA,nonsynonymous SNV,"SCN9A:NM_001365536:exon27:c.C4919T:p.S1640F,SCN9A:NM_002977:exon27:c.C4886T:p.S1629F",D,D,D,D,D,D
chr2,167134678,167134678,C,T,R007_S,SCN9A,Missense_Mutation,NM_001365536,exon15,c.G2489A,p.G830E,SNP,SNVindel,exonic,SCN9A,NA,nonsynonymous SNV,"SCN9A:NM_001365536:exon15:c.G2489A:p.G830E,SCN9A:NM_002977:exon15:c.G2456A:p.G819E",D,D,D,D,D,D
chr2,167168019,167168019,G,A,R007_S,SCN9A,Missense_Mutation,NM_001365536,exon2,c.C248T,p.A83V,SNP,SNVindel,exonic,SCN9A,NA,nonsynonymous SNV,"SCN9A:NM_001365536:exon2:c.C248T:p.A83V,SCN9A:NM_002977:exon2:c.C248T:p.A83V",T,N,N,D,N,T
chr2,168099166,168099166,G,A,R007_S,XIRP2,Missense_Mutation,NM_001199144,exon7,c.G598A,p.E200K,SNP,SNVindel,exonic,XIRP2,NA,nonsynonymous SNV,"XIRP2:NM_001199144:exon7:c.G598A:p.E200K,XIRP2:NM_152381:exon9:c.G1264A:p.E422K",D,N,D,T,N,T
chr2,168103443,168103443,C,T,R007_S,XIRP2,Silent,NM_001199144,exon7,c.C4875T,p.S1625S,SNP,SNVindel,exonic,XIRP2,NA,synonymous SNV,"XIRP2:NM_001199144:exon7:c.C4875T:p.S1625S,XIRP2:NM_152381:exon9:c.C5541T:p.S1847S",NA,NA,NA,NA,NA,NA
chr2,168105314,168105314,G,A,R007_S,XIRP2,Missense_Mutation,NM_001199144,exon7,c.G6746A,p.S2249N,SNP,SNVindel,exonic,XIRP2,NA,nonsynonymous SNV,"XIRP2:NM_001199144:exon7:c.G6746A:p.S2249N,XIRP2:NM_152381:exon9:c.G7412A:p.S2471N",T,N,N,T,N,T
chr2,169820787,169820787,G,A,R007_S,ABCB11,Missense_Mutation,NM_003742,exon18,c.C2107T,p.L703F,SNP,SNVindel,exonic,ABCB11,NA,nonsynonymous SNV,ABCB11:NM_003742:exon18:c.C2107T:p.L703F,T,N,D,D,N,T
chr2,169828396,169828396,C,T,R007_S,ABCB11,Silent,NM_003742,exon14,c.G1599A,p.K533K,SNP,SNVindel,exonic,ABCB11,NA,synonymous SNV,ABCB11:NM_003742:exon14:c.G1599A:p.K533K,NA,NA,NA,NA,NA,NA
chr2,170009392,170009392,G,A,R007_S,LRP2,Silent,NM_004525,exon67,c.C12378T,p.G4126G,SNP,SNVindel,exonic,LRP2,NA,synonymous SNV,LRP2:NM_004525:exon67:c.C12378T:p.G4126G,NA,NA,NA,NA,NA,NA
chr2,170028589,170028589,G,A,R007_S,LRP2,Silent,NM_004525,exon58,c.C11199T,p.I3733I,SNP,SNVindel,exonic,LRP2,NA,synonymous SNV,LRP2:NM_004525:exon58:c.C11199T:p.I3733I,NA,NA,NA,NA,NA,NA
chr2,170083039,170083039,G,A,R007_S,LRP2,Missense_Mutation,NM_004525,exon32,c.C5287T,p.P1763S,SNP,SNVindel,exonic,LRP2,NA,nonsynonymous SNV,LRP2:NM_004525:exon32:c.C5287T:p.P1763S,T,D,D,D,D,D
chr2,170936438,170936438,G,A,R007_S,UBR3,Missense_Mutation,NM_172070,exon37,c.G5314A,p.V1772I,SNP,SNVindel,exonic,UBR3,NA,nonsynonymous SNV,UBR3:NM_172070:exon37:c.G5314A:p.V1772I,T,D,D,T,N,T
chr2,173341218,173341218,C,T,R007_S,ITGA6,Silent,NM_000210,exon9,c.C1365T,p.L455L,SNP,SNVindel,exonic,ITGA6,NA,synonymous SNV,"ITGA6:NM_000210:exon9:c.C1365T:p.L455L,ITGA6:NM_001079818:exon9:c.C1365T:p.L455L,ITGA6:NM_001316306:exon9:c.C1008T:p.L336L,ITGA6:NM_001365529:exon9:c.C1365T:p.L455L,ITGA6:NM_001365530:exon9:c.C1365T:p.L455L",NA,NA,NA,NA,NA,NA
chr2,175677096,175677096,G,A,R007_S,CHN1,Missense_Mutation,NM_001206602,exon3,c.C452T,p.A151V,SNP,SNVindel,exonic,CHN1,NA,nonsynonymous SNV,"CHN1:NM_001206602:exon3:c.C452T:p.A151V,CHN1:NM_001025201:exon9:c.C749T:p.A250V,CHN1:NM_001822:exon9:c.C827T:p.A276V",T,D,D,T,N,T
chr2,175711652,175711652,C,T,R007_S,CHN1,Missense_Mutation,NM_001206602,exon1,c.G208A,p.E70K,SNP,SNVindel,exonic,CHN1,NA,nonsynonymous SNV,"CHN1:NM_001206602:exon1:c.G208A:p.E70K,CHN1:NM_001822:exon7:c.G583A:p.E195K",T,D,D,T,N,T
chr2,176802183,176802183,G,A,R007_S,LNPK,Missense_Mutation,NM_001305011,exon10,c.C574T,p.P192S,SNP,SNVindel,exonic,LNPK,NA,nonsynonymous SNV,"LNPK:NM_001305011:exon10:c.C574T:p.P192S,LNPK:NM_001305010:exon11:c.C949T:p.P317S,LNPK:NM_001305008:exon12:c.C1141T:p.P381S,LNPK:NM_030650:exon12:c.C943T:p.P315S,LNPK:NM_001305009:exon13:c.C1036T:p.P346S",D,D,D,.,D,T
chr2,176957744,176957744,C,T,R007_S,HOXD13,Silent,NM_000523,exon1,c.C126T,p.G42G,SNP,SNVindel,exonic,HOXD13,NA,synonymous SNV,HOXD13:NM_000523:exon1:c.C126T:p.G42G,NA,NA,NA,NA,NA,NA
chr2,176964975,176964975,C,T,R007_S,HOXD12,Missense_Mutation,NM_021193,exon1,c.C446T,p.S149F,SNP,SNVindel,exonic,HOXD12,NA,nonsynonymous SNV,HOXD12:NM_021193:exon1:c.C446T:p.S149F,D,D,D,T,D,T
chr2,176982178,176982178,G,A,R007_S,HOXD10,Missense_Mutation,NM_002148,exon1,c.G617A,p.S206N,SNP,SNVindel,exonic,HOXD10,NA,nonsynonymous SNV,HOXD10:NM_002148:exon1:c.G617A:p.S206N,T,N,N,D,N,T
chr2,177016564,177016564,G,A,R007_S,HOXD4,Missense_Mutation,NM_014621,exon1,c.G203A,p.G68E,SNP,SNVindel,exonic,HOXD4,NA,nonsynonymous SNV,HOXD4:NM_014621:exon1:c.G203A:p.G68E,T,N,D,D,N,T
chr2,177036816,177036816,G,A,R007_S,HOXD3,Silent,NM_006898,exon4,c.G1113A,p.G371G,SNP,SNVindel,exonic,HOXD3,NA,synonymous SNV,HOXD3:NM_006898:exon4:c.G1113A:p.G371G,NA,NA,NA,NA,NA,NA
chr2,177054048,177054048,C,T,R007_S,HOXD1,Silent,NM_024501,exon1,c.C519T,p.G173G,SNP,SNVindel,exonic,HOXD1,NA,synonymous SNV,HOXD1:NM_024501:exon1:c.C519T:p.G173G,NA,NA,NA,NA,NA,NA
chr2,177054052,177054052,C,T,R007_S,HOXD1,Missense_Mutation,NM_024501,exon1,c.C523T,p.P175S,SNP,SNVindel,exonic,HOXD1,NA,nonsynonymous SNV,HOXD1:NM_024501:exon1:c.C523T:p.P175S,T,N,N,D,N,T
chr2,179421733,179421733,G,A,R007_S,TTN,Missense_Mutation,NM_003319,exon158,c.C60953T,p.T20318I,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon158:c.C60953T:p.T20318I,TTN:NM_133432:exon159:c.C61328T:p.T20443I,TTN:NM_133437:exon159:c.C61529T:p.T20510I,TTN:NM_133378:exon279:c.C80444T:p.T26815I,TTN:NM_001256850:exon280:c.C83225T:p.T27742I,TTN:NM_001267550:exon330:c.C88148T:p.T29383I",T,.,D,T,D,T
chr2,179424799,179424799,G,A,R007_S,TTN,Missense_Mutation,NM_003319,exon154,c.C58865T,p.T19622I,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon154:c.C58865T:p.T19622I,TTN:NM_133432:exon155:c.C59240T:p.T19747I,TTN:NM_133437:exon155:c.C59441T:p.T19814I,TTN:NM_133378:exon275:c.C78356T:p.T26119I,TTN:NM_001256850:exon276:c.C81137T:p.T27046I,TTN:NM_001267550:exon326:c.C86060T:p.T28687I",T,.,N,T,D,T
chr2,179434308,179434308,C,T,R007_S,TTN,Silent,NM_003319,exon154,c.G49356A,p.R16452R,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon154:c.G49356A:p.R16452R,TTN:NM_133432:exon155:c.G49731A:p.R16577R,TTN:NM_133437:exon155:c.G49932A:p.R16644R,TTN:NM_133378:exon275:c.G68847A:p.R22949R,TTN:NM_001256850:exon276:c.G71628A:p.R23876R,TTN:NM_001267550:exon326:c.G76551A:p.R25517R",NA,NA,NA,NA,NA,NA
chr2,179435325,179435325,G,A,R007_S,TTN,Silent,NM_003319,exon154,c.C48339T,p.D16113D,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon154:c.C48339T:p.D16113D,TTN:NM_133432:exon155:c.C48714T:p.D16238D,TTN:NM_133437:exon155:c.C48915T:p.D16305D,TTN:NM_133378:exon275:c.C67830T:p.D22610D,TTN:NM_001256850:exon276:c.C70611T:p.D23537D,TTN:NM_001267550:exon326:c.C75534T:p.D25178D",NA,NA,NA,NA,NA,NA
chr2,179442784,179442784,C,T,R007_S,TTN,Missense_Mutation,NM_003319,exon150,c.G41263A,p.A13755T,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon150:c.G41263A:p.A13755T,TTN:NM_133432:exon151:c.G41638A:p.A13880T,TTN:NM_133437:exon151:c.G41839A:p.A13947T,TTN:NM_133378:exon271:c.G60754A:p.A20252T,TTN:NM_001256850:exon272:c.G63535A:p.A21179T,TTN:NM_001267550:exon322:c.G68458A:p.A22820T",D,.,D,T,D,D
chr2,179448478,179448478,G,A,R007_S,TTN,Missense_Mutation,NM_003319,exon140,c.C38236T,p.P12746S,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon140:c.C38236T:p.P12746S,TTN:NM_133432:exon141:c.C38611T:p.P12871S,TTN:NM_133437:exon141:c.C38812T:p.P12938S,TTN:NM_133378:exon261:c.C57727T:p.P19243S,TTN:NM_001256850:exon262:c.C60508T:p.P20170S,TTN:NM_001267550:exon312:c.C65431T:p.P21811S",T,.,D,T,D,T
chr2,179464532,179464532,C,T,R007_S,TTN,Missense_Mutation,NM_003319,exon117,c.G28901A,p.G9634E,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon117:c.G28901A:p.G9634E,TTN:NM_133432:exon118:c.G29276A:p.G9759E,TTN:NM_133437:exon118:c.G29477A:p.G9826E,TTN:NM_133378:exon238:c.G48392A:p.G16131E,TTN:NM_001256850:exon239:c.G51173A:p.G17058E,TTN:NM_001267550:exon289:c.G56096A:p.G18699E",D,.,D,T,D,D
chr2,179468682,179468682,G,A,R007_S,TTN,Silent,NM_003319,exon110,c.C27537T,p.F9179F,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon110:c.C27537T:p.F9179F,TTN:NM_133432:exon111:c.C27912T:p.F9304F,TTN:NM_133437:exon111:c.C28113T:p.F9371F,TTN:NM_133378:exon231:c.C47028T:p.F15676F,TTN:NM_001256850:exon232:c.C49809T:p.F16603F,TTN:NM_001267550:exon282:c.C54732T:p.F18244F",NA,NA,NA,NA,NA,NA
chr2,179480436,179480436,G,A,R007_S,TTN,Missense_Mutation,NM_003319,exon86,c.C21197T,p.A7066V,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon86:c.C21197T:p.A7066V,TTN:NM_133432:exon87:c.C21572T:p.A7191V,TTN:NM_133437:exon87:c.C21773T:p.A7258V,TTN:NM_133378:exon207:c.C40688T:p.A13563V,TTN:NM_001256850:exon208:c.C43469T:p.A14490V,TTN:NM_001267550:exon258:c.C48392T:p.A16131V",D,.,D,T,D,D
chr2,179482531,179482531,G,A,R007_S,TTN,Silent,NM_003319,exon81,c.C20352T,p.P6784P,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon81:c.C20352T:p.P6784P,TTN:NM_133432:exon82:c.C20727T:p.P6909P,TTN:NM_133437:exon82:c.C20928T:p.P6976P,TTN:NM_133378:exon202:c.C39843T:p.P13281P,TTN:NM_001256850:exon203:c.C42624T:p.P14208P,TTN:NM_001267550:exon253:c.C47547T:p.P15849P",NA,NA,NA,NA,NA,NA
chr2,179516674,179516674,C,T,R007_S,TTN,Missense_Mutation,NM_133378,exon159,c.G32014A,p.V10672I,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon159:c.G32014A:p.V10672I,TTN:NM_001256850:exon160:c.G34795A:p.V11599I,TTN:NM_001267550:exon205:c.G39316A:p.V13106I",T,.,N,T,N,T
chr2,179556806,179556806,G,A,R007_S,TTN,Missense_Mutation,NM_133378,exon118,c.C27967T,p.P9323S,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon118:c.C27967T:p.P9323S,TTN:NM_001256850:exon119:c.C30748T:p.P10250S,TTN:NM_001267550:exon121:c.C31699T:p.P10567S",T,.,D,T,D,T
chr2,179594472,179594472,C,T,R007_S,TTN,Missense_Mutation,NM_133378,exon60,c.G14776A,p.V4926I,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon60:c.G14776A:p.V4926I,TTN:NM_001256850:exon61:c.G17557A:p.V5853I,TTN:NM_001267550:exon63:c.G18508A:p.V6170I",T,.,D,T,N,T
chr2,179597068,179597068,G,A,R007_S,TTN,Missense_Mutation,NM_133378,exon54,c.C12896T,p.A4299V,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon54:c.C12896T:p.A4299V,TTN:NM_001256850:exon55:c.C15677T:p.A5226V,TTN:NM_001267550:exon57:c.C16628T:p.A5543V",T,.,D,T,N,T
chr2,179602895,179602895,G,A,R007_S,TTN,Missense_Mutation,NM_003319,exon46,c.C13196T,p.T4399I,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon46:c.C13196T:p.T4399I,TTN:NM_133378:exon46:c.C10553T:p.T3518I,TTN:NM_001256850:exon47:c.C13334T:p.T4445I,TTN:NM_133432:exon47:c.C13571T:p.T4524I,TTN:NM_133437:exon47:c.C13772T:p.T4591I,TTN:NM_001267550:exon49:c.C14285T:p.T4762I",T,.,D,T,D,T
chr2,179642673,179642673,G,A,R007_S,TTN,Missense_Mutation,NM_003319,exon24,c.C4100T,p.S1367F,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon24:c.C4100T:p.S1367F,TTN:NM_133432:exon24:c.C4100T:p.S1367F,TTN:NM_133437:exon24:c.C4100T:p.S1367F,TTN:NM_001256850:exon25:c.C4238T:p.S1413F,TTN:NM_001267550:exon25:c.C4238T:p.S1413F,TTN:NM_133378:exon25:c.C4238T:p.S1413F,TTN:NM_133379:exon25:c.C4238T:p.S1413F",D,.,D,T,D,T
chr2,179643617,179643617,G,A,R007_S,TTN,Missense_Mutation,NM_003319,exon23,c.C4054T,p.P1352S,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon23:c.C4054T:p.P1352S,TTN:NM_133432:exon23:c.C4054T:p.P1352S,TTN:NM_133437:exon23:c.C4054T:p.P1352S,TTN:NM_001256850:exon24:c.C4192T:p.P1398S,TTN:NM_001267550:exon24:c.C4192T:p.P1398S,TTN:NM_133378:exon24:c.C4192T:p.P1398S,TTN:NM_133379:exon24:c.C4192T:p.P1398S",T,.,N,T,N,T
chr2,179658217,179658217,C,T,R007_S,TTN,Missense_Mutation,NM_001256850,exon9,c.G1450A,p.D484N,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_001256850:exon9:c.G1450A:p.D484N,TTN:NM_001267550:exon9:c.G1450A:p.D484N,TTN:NM_003319:exon9:c.G1450A:p.D484N,TTN:NM_133378:exon9:c.G1450A:p.D484N,TTN:NM_133379:exon9:c.G1450A:p.D484N,TTN:NM_133432:exon9:c.G1450A:p.D484N,TTN:NM_133437:exon9:c.G1450A:p.D484N",T,.,D,T,D,T
chr2,179659866,179659866,G,A,R007_S,TTN,Missense_Mutation,NM_001256850,exon7,c.C1028T,p.P343L,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_001256850:exon7:c.C1028T:p.P343L,TTN:NM_001267550:exon7:c.C1028T:p.P343L,TTN:NM_003319:exon7:c.C1028T:p.P343L,TTN:NM_133378:exon7:c.C1028T:p.P343L,TTN:NM_133379:exon7:c.C1028T:p.P343L,TTN:NM_133432:exon7:c.C1028T:p.P343L,TTN:NM_133437:exon7:c.C1028T:p.P343L",D,.,D,D,D,D
chr2,179664447,179664447,G,A,R007_S,TTN,Silent,NM_001256850,exon6,c.C681T,p.A227A,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_001256850:exon6:c.C681T:p.A227A,TTN:NM_001267550:exon6:c.C681T:p.A227A,TTN:NM_003319:exon6:c.C681T:p.A227A,TTN:NM_133378:exon6:c.C681T:p.A227A,TTN:NM_133379:exon6:c.C681T:p.A227A,TTN:NM_133432:exon6:c.C681T:p.A227A,TTN:NM_133437:exon6:c.C681T:p.A227A",NA,NA,NA,NA,NA,NA
chr2,180309697,180309697,G,A,R007_S,ZNF385B,Missense_Mutation,NM_001352817,exon6,c.C707T,p.S236F,SNP,SNVindel,exonic,ZNF385B,NA,nonsynonymous SNV,"ZNF385B:NM_001352817:exon6:c.C707T:p.S236F,ZNF385B:NM_001113397:exon7:c.C875T:p.S292F,ZNF385B:NM_001113398:exon7:c.C797T:p.S266F,ZNF385B:NM_001352813:exon7:c.C797T:p.S266F,ZNF385B:NM_001352814:exon7:c.C797T:p.S266F,ZNF385B:NM_001352812:exon8:c.C899T:p.S300F,ZNF385B:NM_001352815:exon8:c.C797T:p.S266F,ZNF385B:NM_001352816:exon8:c.C761T:p.S254F,ZNF385B:NM_001282725:exon9:c.C797T:p.S266F,ZNF385B:NM_152520:exon9:c.C1148T:p.S383F,ZNF385B:NM_001352808:exon10:c.C1148T:p.S383F,ZNF385B:NM_001352809:exon10:c.C1286T:p.S429F,ZNF385B:NM_001352810:exon10:c.C1229T:p.S410F,ZNF385B:NM_001352811:exon10:c.C1187T:p.S396F",D,D,D,T,D,T
chr2,183707232,183707232,G,A,R007_S,FRZB,Missense_Mutation,NM_001463,exon3,c.C566T,p.T189I,SNP,SNVindel,exonic,FRZB,NA,nonsynonymous SNV,FRZB:NM_001463:exon3:c.C566T:p.T189I,D,N,D,T,D,T
chr2,186658458,186658458,C,T,R007_S,FSIP2,Nonsense_Mutation,NM_173651,exon16,c.C6595T,p.Q2199X,SNP,SNVindel,exonic,FSIP2,NA,stopgain,FSIP2:NM_173651:exon16:c.C6595T:p.Q2199X,.,.,A,.,.,.
chr2,187605017,187605017,G,A,R007_S,FAM171B,Missense_Mutation,NM_177454,exon2,c.G301A,p.A101T,SNP,SNVindel,exonic,FAM171B,NA,nonsynonymous SNV,FAM171B:NM_177454:exon2:c.G301A:p.A101T,D,D,D,T,D,T
chr2,188216856,188216856,G,A,R007_S,CALCRL,Silent,NM_001271751,exon12,c.C1113T,p.I371I,SNP,SNVindel,exonic,CALCRL,NA,synonymous SNV,"CALCRL:NM_001271751:exon12:c.C1113T:p.I371I,CALCRL:NM_005795:exon13:c.C1113T:p.I371I,CALCRL:NM_001369434:exon14:c.C1113T:p.I371I,CALCRL:NM_001369435:exon14:c.C1113T:p.I371I",NA,NA,NA,NA,NA,NA
chr2,190324135,190324135,G,A,R007_S,WDR75,Missense_Mutation,NM_032168,exon8,c.G763A,p.A255T,SNP,SNVindel,exonic,WDR75,NA,nonsynonymous SNV,"WDR75:NM_032168:exon8:c.G763A:p.A255T,WDR75:NM_001303096:exon9:c.G571A:p.A191T",T,D,D,T,N,T
chr2,190339013,190339013,G,A,R007_S,WDR75,Silent,NM_032168,exon19,c.G2151A,p.E717E,SNP,SNVindel,exonic,WDR75,NA,synonymous SNV,"WDR75:NM_032168:exon19:c.G2151A:p.E717E,WDR75:NM_001303096:exon20:c.G1959A:p.E653E",NA,NA,NA,NA,NA,NA
chr2,191302278,191302278,G,A,R007_S,MFSD6,Missense_Mutation,NM_017694,exon3,c.G1523A,p.G508D,SNP,SNVindel,exonic,MFSD6,NA,nonsynonymous SNV,MFSD6:NM_017694:exon3:c.G1523A:p.G508D,D,D,D,T,D,D
chr2,191844550,191844550,C,T,R007_S,STAT1,Missense_Mutation,NM_007315,exon20,c.G1675A,p.E559K,SNP,SNVindel,exonic,STAT1,NA,nonsynonymous SNV,"STAT1:NM_007315:exon20:c.G1675A:p.E559K,STAT1:NM_139266:exon20:c.G1675A:p.E559K",D,D,D,D,D,D
chr2,196619222,196619222,C,T,R007_S,DNAH7,Missense_Mutation,NM_018897,exon63,c.G11603A,p.G3868D,SNP,SNVindel,exonic,DNAH7,NA,nonsynonymous SNV,DNAH7:NM_018897:exon63:c.G11603A:p.G3868D,T,D,D,T,D,T
chr2,197085634,197085634,G,A,R007_S,HECW2,Missense_Mutation,NM_001304840,exon23,c.C3110T,p.A1037V,SNP,SNVindel,exonic,HECW2,NA,nonsynonymous SNV,"HECW2:NM_001304840:exon23:c.C3110T:p.A1037V,HECW2:NM_001348768:exon25:c.C4178T:p.A1393V,HECW2:NM_020760:exon25:c.C4178T:p.A1393V",D,D,D,T,D,T
chr2,197087046,197087046,G,A,R007_S,HECW2,Silent,NM_001304840,exon22,c.C2967T,p.D989D,SNP,SNVindel,exonic,HECW2,NA,synonymous SNV,"HECW2:NM_001304840:exon22:c.C2967T:p.D989D,HECW2:NM_001348768:exon24:c.C4035T:p.D1345D,HECW2:NM_020760:exon24:c.C4035T:p.D1345D",NA,NA,NA,NA,NA,NA
chr2,197183404,197183404,C,T,R007_S,HECW2,Nonsense_Mutation,NM_001304840,exon7,c.G1142A,p.W381X,SNP,SNVindel,exonic,HECW2,NA,stopgain,"HECW2:NM_001304840:exon7:c.G1142A:p.W381X,HECW2:NM_001348768:exon9:c.G2210A:p.W737X,HECW2:NM_020760:exon9:c.G2210A:p.W737X",.,N,A,.,.,.
chr2,197184157,197184157,C,T,R007_S,HECW2,Missense_Mutation,NM_001304840,exon7,c.G389A,p.G130E,SNP,SNVindel,exonic,HECW2,NA,nonsynonymous SNV,"HECW2:NM_001304840:exon7:c.G389A:p.G130E,HECW2:NM_001348768:exon9:c.G1457A:p.G486E,HECW2:NM_020760:exon9:c.G1457A:p.G486E",D,N,D,T,N,T
chr2,198571507,198571507,G,A,R007_S,MARS2,Missense_Mutation,NM_138395,exon1,c.G1378A,p.V460I,SNP,SNVindel,exonic,MARS2,NA,nonsynonymous SNV,MARS2:NM_138395:exon1:c.G1378A:p.V460I,T,D,D,T,N,T
chr2,198950053,198950053,G,A,R007_S,PLCL1,Missense_Mutation,NM_006226,exon2,c.G1812A,p.M604I,SNP,SNVindel,exonic,PLCL1,NA,nonsynonymous SNV,PLCL1:NM_006226:exon2:c.G1812A:p.M604I,T,D,D,T,N,T
chr2,200193559,200193559,C,T,R007_S,SATB2,Silent,NM_001172509,exon8,c.G1248A,p.R416R,SNP,SNVindel,exonic,SATB2,NA,synonymous SNV,"SATB2:NM_001172509:exon8:c.G1248A:p.R416R,SATB2:NM_001172517:exon9:c.G1248A:p.R416R,SATB2:NM_015265:exon9:c.G1248A:p.R416R",NA,NA,NA,NA,NA,NA
chr2,200298068,200298068,C,T,R007_S,SATB2,Silent,NM_001172509,exon3,c.G339A,p.Q113Q,SNP,SNVindel,exonic,SATB2,NA,synonymous SNV,"SATB2:NM_001172509:exon3:c.G339A:p.Q113Q,SATB2:NM_001172517:exon4:c.G339A:p.Q113Q,SATB2:NM_015265:exon4:c.G339A:p.Q113Q",NA,NA,NA,NA,NA,NA
chr2,200790332,200790332,G,A,R007_S,C2orf69,Missense_Mutation,NM_153689,exon2,c.G881A,p.R294K,SNP,SNVindel,exonic,C2orf69,NA,nonsynonymous SNV,C2orf69:NM_153689:exon2:c.G881A:p.R294K,T,N,N,.,N,T
chr2,201337694,201337694,C,T,R007_S,SPATS2L,Silent,NM_001100424,exon11,c.C993T,p.G331G,SNP,SNVindel,exonic,SPATS2L,NA,synonymous SNV,"SPATS2L:NM_001100424:exon11:c.C993T:p.G331G,SPATS2L:NM_001282743:exon11:c.C1020T:p.G340G,SPATS2L:NM_001100422:exon12:c.C1200T:p.G400G,SPATS2L:NM_001100423:exon12:c.C1200T:p.G400G,SPATS2L:NM_001282735:exon12:c.C1200T:p.G400G,SPATS2L:NM_001282744:exon12:c.C1290T:p.G430G,SPATS2L:NM_015535:exon12:c.C1200T:p.G400G",NA,NA,NA,NA,NA,NA
chr2,201437166,201437166,C,T,R007_S,SGO2,Silent,NM_001160033,exon7,c.C2097T,p.Y699Y,SNP,SNVindel,exonic,SGO2,NA,synonymous SNV,"SGO2:NM_001160033:exon7:c.C2097T:p.Y699Y,SGO2:NM_001160046:exon7:c.C2097T:p.Y699Y,SGO2:NM_152524:exon7:c.C2097T:p.Y699Y",NA,NA,NA,NA,NA,NA
chr2,201437455,201437455,C,T,R007_S,SGO2,Missense_Mutation,NM_001160033,exon7,c.C2386T,p.P796S,SNP,SNVindel,exonic,SGO2,NA,nonsynonymous SNV,"SGO2:NM_001160033:exon7:c.C2386T:p.P796S,SGO2:NM_001160046:exon7:c.C2386T:p.P796S,SGO2:NM_152524:exon7:c.C2386T:p.P796S",D,N,N,T,D,T
chr2,202028676,202028676,C,T,R007_S,CFLAR,Missense_Mutation,NM_001202515,exon6,c.C688T,p.L230F,SNP,SNVindel,exonic,CFLAR,NA,nonsynonymous SNV,"CFLAR:NM_001202515:exon6:c.C688T:p.L230F,CFLAR:NM_001202516:exon8:c.C1318T:p.L440F,CFLAR:NM_001202517:exon9:c.C1135T:p.L379F,CFLAR:NM_001351593:exon9:c.C1135T:p.L379F,CFLAR:NM_001127183:exon10:c.C1423T:p.L475F,CFLAR:NM_001351594:exon10:c.C1135T:p.L379F,CFLAR:NM_003879:exon10:c.C1423T:p.L475F",D,D,D,T,D,T
chr2,202900667,202900667,C,T,R007_S,FZD7,Missense_Mutation,NM_003507,exon1,c.C1297T,p.L433F,SNP,SNVindel,exonic,FZD7,NA,nonsynonymous SNV,FZD7:NM_003507:exon1:c.C1297T:p.L433F,D,D,D,D,D,D
chr2,202901060,202901060,C,T,R007_S,FZD7,Missense_Mutation,NM_003507,exon1,c.C1690T,p.L564F,SNP,SNVindel,exonic,FZD7,NA,nonsynonymous SNV,FZD7:NM_003507:exon1:c.C1690T:p.L564F,D,N,D,D,N,D
chr2,203817373,203817373,G,A,R007_S,CARF,Missense_Mutation,NM_001282912,exon3,c.G134A,p.G45E,SNP,SNVindel,exonic,CARF,NA,nonsynonymous SNV,"CARF:NM_001282912:exon3:c.G134A:p.G45E,CARF:NM_001282910:exon4:c.G170A:p.G57E,CARF:NM_001322429:exon4:c.G362A:p.G121E,CARF:NM_001352677:exon4:c.G92A:p.G31E,CARF:NM_001104586:exon5:c.G398A:p.G133E,CARF:NM_001282911:exon5:c.G170A:p.G57E,CARF:NM_001322428:exon5:c.G398A:p.G133E,CARF:NM_001322427:exon6:c.G398A:p.G133E,CARF:NM_024744:exon6:c.G398A:p.G133E",T,N,D,.,N,T
chr2,204073964,204073964,C,T,R007_S,NBEAL1,Silent,NM_001114132,exon52,c.C7617T,p.F2539F,SNP,SNVindel,exonic,NBEAL1,NA,synonymous SNV,NBEAL1:NM_001114132:exon52:c.C7617T:p.F2539F,NA,NA,NA,NA,NA,NA
chr2,206480271,206480271,C,T,R007_S,PARD3B,Missense_Mutation,NM_057177,exon22,c.C3145T,p.P1049S,SNP,SNVindel,exonic,PARD3B,NA,nonsynonymous SNV,"PARD3B:NM_057177:exon22:c.C3145T:p.P1049S,PARD3B:NM_152526:exon22:c.C3166T:p.P1056S,PARD3B:NM_205863:exon22:c.C3049T:p.P1017S,PARD3B:NM_001302769:exon23:c.C3352T:p.P1118S",T,D,D,T,N,T
chr2,207171241,207171241,C,T,R007_S,ZDBF2,Silent,NM_020923,exon5,c.C1989T,p.S663S,SNP,SNVindel,exonic,ZDBF2,NA,synonymous SNV,"ZDBF2:NM_020923:exon5:c.C1989T:p.S663S,ZDBF2:NM_001369654:exon6:c.C1989T:p.S663S,ZDBF2:NM_001285549:exon7:c.C1983T:p.S661S",NA,NA,NA,NA,NA,NA
chr2,207452854,207452854,C,T,R007_S,ADAM23,Nonsense_Mutation,NM_003812,exon20,c.C1828T,p.Q610X,SNP,SNVindel,exonic,ADAM23,NA,stopgain,ADAM23:NM_003812:exon20:c.C1828T:p.Q610X,.,D,A,.,.,.
chr2,207527988,207527988,A,G,R007_S,DYTN,Silent,NM_001093730,exon11,c.T1272C,p.A424A,SNP,SNVindel,exonic,DYTN,NA,synonymous SNV,DYTN:NM_001093730:exon11:c.T1272C:p.A424A,NA,NA,NA,NA,NA,NA
chr2,207988617,207988617,C,T,R007_S,KLF7,Missense_Mutation,NM_001270943,exon2,c.G515A,p.G172E,SNP,SNVindel,exonic,KLF7,NA,nonsynonymous SNV,"KLF7:NM_001270943:exon2:c.G515A:p.G172E,KLF7:NM_001270944:exon2:c.G530A:p.G177E,KLF7:NM_003709:exon2:c.G614A:p.G205E",T,D,D,T,N,T
chr2,208598759,208598759,C,T,R007_S,CCNYL1,Missense_Mutation,NM_001330218,exon4,c.C419T,p.T140I,SNP,SNVindel,exonic,CCNYL1,NA,nonsynonymous SNV,"CCNYL1:NM_001330218:exon4:c.C419T:p.T140I,CCNYL1:NM_152523:exon5:c.C209T:p.T70I",T,U,D,T,N,T
chr2,208632220,208632220,C,T,R007_S,FZD5,Missense_Mutation,NM_003468,exon2,c.G1244A,p.G415D,SNP,SNVindel,exonic,FZD5,NA,nonsynonymous SNV,FZD5:NM_003468:exon2:c.G1244A:p.G415D,D,D,D,D,D,D
chr2,209007468,209007468,C,T,R007_S,CRYGB,Missense_Mutation,NM_005210,exon3,c.G422A,p.R141K,SNP,SNVindel,exonic,CRYGB,NA,nonsynonymous SNV,CRYGB:NM_005210:exon3:c.G422A:p.R141K,T,D,D,T,N,T
chr2,210560265,210560265,C,T,R007_S,MAP2,Missense_Mutation,NM_001363911,exon7,c.C3359T,p.A1120V,SNP,SNVindel,exonic,MAP2,NA,nonsynonymous SNV,"MAP2:NM_001363911:exon7:c.C3359T:p.A1120V,MAP2:NM_002374:exon7:c.C3371T:p.A1124V,MAP2:NM_001363910:exon8:c.C3359T:p.A1120V",D,D,D,T,N,T
chr2,210570428,210570428,C,T,R007_S,MAP2,Missense_Mutation,NM_001363913,exon8,c.C641T,p.S214F,SNP,SNVindel,exonic,MAP2,NA,nonsynonymous SNV,"MAP2:NM_001363913:exon8:c.C641T:p.S214F,MAP2:NM_031845:exon8:c.C641T:p.S214F,MAP2:NM_031847:exon8:c.C641T:p.S214F,MAP2:NM_001039538:exon10:c.C812T:p.S271F,MAP2:NM_001363911:exon11:c.C4697T:p.S1566F,MAP2:NM_002374:exon11:c.C4709T:p.S1570F,MAP2:NM_001363910:exon12:c.C4697T:p.S1566F",D,D,D,T,D,T
chr2,210594676,210594676,G,A,R007_S,MAP2,Missense_Mutation,NM_001363913,exon11,c.G1190A,p.G397D,SNP,SNVindel,exonic,MAP2,NA,nonsynonymous SNV,"MAP2:NM_001363913:exon11:c.G1190A:p.G397D,MAP2:NM_031845:exon11:c.G1190A:p.G397D,MAP2:NM_031847:exon12:c.G1283A:p.G428D,MAP2:NM_001039538:exon14:c.G1454A:p.G485D,MAP2:NM_001363911:exon14:c.G5246A:p.G1749D,MAP2:NM_002374:exon14:c.G5258A:p.G1753D,MAP2:NM_001363910:exon15:c.G5246A:p.G1749D",D,D,D,D,D,D
chr2,210678538,210678538,C,T,R007_S,UNC80,Silent,NM_032504,exon8,c.C1173T,p.P391P,SNP,SNVindel,exonic,UNC80,NA,synonymous SNV,"UNC80:NM_032504:exon8:c.C1173T:p.P391P,UNC80:NM_182587:exon8:c.C1173T:p.P391P",NA,NA,NA,NA,NA,NA
chr2,212530074,212530074,G,A,R007_S,ERBB4,Silent,NM_001042599,exon15,c.C1845T,p.H615H,SNP,SNVindel,exonic,ERBB4,NA,synonymous SNV,"ERBB4:NM_001042599:exon15:c.C1845T:p.H615H,ERBB4:NM_005235:exon15:c.C1845T:p.H615H",NA,NA,NA,NA,NA,NA
chr2,215928793,215928793,C,T,R007_S,ABCA12,Missense_Mutation,NM_173076,exon3,c.G313A,p.D105N,SNP,SNVindel,exonic,ABCA12,NA,nonsynonymous SNV,ABCA12:NM_173076:exon3:c.G313A:p.D105N,T,N,N,D,N,T
chr2,216245760,216245760,G,A,R007_S,FN1,Silent,NM_001365518,exon32,c.C4935T,p.V1645V,SNP,SNVindel,exonic,FN1,NA,synonymous SNV,"FN1:NM_001365518:exon32:c.C4935T:p.V1645V,FN1:NM_001365520:exon32:c.C4935T:p.V1645V,FN1:NM_001365524:exon32:c.C4935T:p.V1645V,FN1:NM_002026:exon32:c.C4935T:p.V1645V,FN1:NM_212478:exon32:c.C4935T:p.V1645V,FN1:NM_001306129:exon33:c.C5208T:p.V1736V,FN1:NM_212482:exon33:c.C5208T:p.V1736V",NA,NA,NA,NA,NA,NA
chr2,216249683,216249683,C,T,R007_S,FN1,Silent,NM_001306131,exon28,c.G4356A,p.R1452R,SNP,SNVindel,exonic,FN1,NA,synonymous SNV,"FN1:NM_001306131:exon28:c.G4356A:p.R1452R,FN1:NM_001306132:exon28:c.G4356A:p.R1452R,FN1:NM_001365518:exon28:c.G4356A:p.R1452R,FN1:NM_001365520:exon28:c.G4356A:p.R1452R,FN1:NM_001365523:exon28:c.G4356A:p.R1452R,FN1:NM_001365524:exon28:c.G4356A:p.R1452R,FN1:NM_002026:exon28:c.G4356A:p.R1452R,FN1:NM_212474:exon28:c.G4356A:p.R1452R,FN1:NM_212476:exon28:c.G4356A:p.R1452R,FN1:NM_212478:exon28:c.G4356A:p.R1452R,FN1:NM_001306129:exon29:c.G4629A:p.R1543R,FN1:NM_001306130:exon29:c.G4629A:p.R1543R,FN1:NM_001365517:exon29:c.G4629A:p.R1543R,FN1:NM_001365519:exon29:c.G4629A:p.R1543R,FN1:NM_001365521:exon29:c.G4629A:p.R1543R,FN1:NM_001365522:exon29:c.G4629A:p.R1543R,FN1:NM_212482:exon29:c.G4629A:p.R1543R",NA,NA,NA,NA,NA,NA
chr2,216283972,216283972,G,A,R007_S,FN1,Silent,NM_001306129,exon12,c.C1812T,p.T604T,SNP,SNVindel,exonic,FN1,NA,synonymous SNV,"FN1:NM_001306129:exon12:c.C1812T:p.T604T,FN1:NM_001306130:exon12:c.C1812T:p.T604T,FN1:NM_001306131:exon12:c.C1812T:p.T604T,FN1:NM_001306132:exon12:c.C1812T:p.T604T,FN1:NM_001365517:exon12:c.C1812T:p.T604T,FN1:NM_001365518:exon12:c.C1812T:p.T604T,FN1:NM_001365519:exon12:c.C1812T:p.T604T,FN1:NM_001365520:exon12:c.C1812T:p.T604T,FN1:NM_001365521:exon12:c.C1812T:p.T604T,FN1:NM_001365522:exon12:c.C1812T:p.T604T,FN1:NM_001365523:exon12:c.C1812T:p.T604T,FN1:NM_001365524:exon12:c.C1812T:p.T604T,FN1:NM_002026:exon12:c.C1812T:p.T604T,FN1:NM_054034:exon12:c.C1812T:p.T604T,FN1:NM_212474:exon12:c.C1812T:p.T604T,FN1:NM_212476:exon12:c.C1812T:p.T604T,FN1:NM_212478:exon12:c.C1812T:p.T604T,FN1:NM_212482:exon12:c.C1812T:p.T604T",NA,NA,NA,NA,NA,NA
chr2,218750811,218750811,G,A,R007_S,TNS1,Silent,NM_001308022,exon11,c.C621T,p.L207L,SNP,SNVindel,exonic,TNS1,NA,synonymous SNV,"TNS1:NM_001308022:exon11:c.C621T:p.L207L,TNS1:NM_001308023:exon11:c.C621T:p.L207L,TNS1:NM_022648:exon12:c.C621T:p.L207L",NA,NA,NA,NA,NA,NA
chr2,219127823,219127823,C,T,R007_S,GPBAR1,Silent,NM_001077191,exon2,c.C376T,p.L126L,SNP,SNVindel,exonic,GPBAR1,NA,synonymous SNV,"GPBAR1:NM_001077191:exon2:c.C376T:p.L126L,GPBAR1:NM_001077194:exon2:c.C376T:p.L126L,GPBAR1:NM_001321950:exon2:c.C376T:p.L126L,GPBAR1:NM_170699:exon2:c.C376T:p.L126L",NA,NA,NA,NA,NA,NA
chr2,219135294,219135294,C,T,R007_S,PNKD,Silent,NM_001077399,exon1,c.C36T,p.G12G,SNP,SNVindel,exonic,PNKD,NA,synonymous SNV,"PNKD:NM_001077399:exon1:c.C36T:p.G12G,PNKD:NM_015488:exon1:c.C36T:p.G12G",NA,NA,NA,NA,NA,NA
chr2,219221867,219221867,C,T,R007_S,CATIP,Silent,NM_001320865,exon2,c.C108T,p.L36L,SNP,SNVindel,exonic,CATIP,NA,synonymous SNV,"CATIP:NM_001320865:exon2:c.C108T:p.L36L,CATIP:NM_198559:exon2:c.C75T:p.L25L",NA,NA,NA,NA,NA,NA
chr2,219225353,219225353,G,A,R007_S,CATIP,Missense_Mutation,NM_001320865,exon5,c.G466A,p.A156T,SNP,SNVindel,exonic,CATIP,NA,nonsynonymous SNV,"CATIP:NM_001320865:exon5:c.G466A:p.A156T,CATIP:NM_198559:exon5:c.G433A:p.A145T",T,N,N,.,N,T
chr2,219300065,219300065,C,T,R007_S,VIL1,Silent,NM_007127,exon15,c.C1734T,p.S578S,SNP,SNVindel,exonic,VIL1,NA,synonymous SNV,VIL1:NM_007127:exon15:c.C1734T:p.S578S,NA,NA,NA,NA,NA,NA
chr2,219553445,219553445,C,T,R007_S,STK36,Missense_Mutation,NM_001243313,exon12,c.C1406T,p.A469V,SNP,SNVindel,exonic,STK36,NA,nonsynonymous SNV,"STK36:NM_001243313:exon12:c.C1406T:p.A469V,STK36:NM_001369423:exon12:c.C1406T:p.A469V,STK36:NM_015690:exon12:c.C1406T:p.A469V",T,N,N,T,N,T
chr2,219563664,219563664,C,T,R007_S,STK36,Silent,NM_001243313,exon26,c.C3334T,p.L1112L,SNP,SNVindel,exonic,STK36,NA,synonymous SNV,"STK36:NM_001243313:exon26:c.C3334T:p.L1112L,STK36:NM_001369423:exon26:c.C3397T:p.L1133L,STK36:NM_015690:exon26:c.C3397T:p.L1133L",NA,NA,NA,NA,NA,NA
chr2,219602438,219602438,C,T,R007_S,TTLL4,Silent,NM_014640,exon3,c.C39T,p.L13L,SNP,SNVindel,exonic,TTLL4,NA,synonymous SNV,TTLL4:NM_014640:exon3:c.C39T:p.L13L,NA,NA,NA,NA,NA,NA
chr2,219694798,219694798,G,A,R007_S,PRKAG3,Missense_Mutation,NM_017431,exon4,c.C536T,p.P179L,SNP,SNVindel,exonic,PRKAG3,NA,nonsynonymous SNV,PRKAG3:NM_017431:exon4:c.C536T:p.P179L,T,D,D,D,D,D
chr2,219869003,219869003,C,T,R007_S,CFAP65,Silent,NM_194302,exon33,c.G5226A,p.K1742K,SNP,SNVindel,exonic,CFAP65,NA,synonymous SNV,CFAP65:NM_194302:exon33:c.G5226A:p.K1742K,NA,NA,NA,NA,NA,NA
chr2,219873840,219873840,C,T,R007_S,CFAP65,Missense_Mutation,NM_194302,exon29,c.G4603A,p.E1535K,SNP,SNVindel,exonic,CFAP65,NA,nonsynonymous SNV,CFAP65:NM_194302:exon29:c.G4603A:p.E1535K,T,N,D,T,N,T
chr2,219875604,219875604,G,A,R007_S,CFAP65,Missense_Mutation,NM_194302,exon25,c.C4072T,p.P1358S,SNP,SNVindel,exonic,CFAP65,NA,nonsynonymous SNV,CFAP65:NM_194302:exon25:c.C4072T:p.P1358S,D,D,D,T,D,T
chr2,219897246,219897246,G,A,R007_S,CFAP65,Silent,NM_001278296,exon5,c.C396T,p.F132F,SNP,SNVindel,exonic,CFAP65,NA,synonymous SNV,"CFAP65:NM_001278296:exon5:c.C396T:p.F132F,CFAP65:NM_001278295:exon6:c.C558T:p.F186F,CFAP65:NM_194302:exon6:c.C591T:p.F197F",NA,NA,NA,NA,NA,NA
chr2,219924949,219924949,G,A,R007_S,IHH,Missense_Mutation,NM_002181,exon1,c.C241T,p.L81F,SNP,SNVindel,exonic,IHH,NA,nonsynonymous SNV,IHH:NM_002181:exon1:c.C241T:p.L81F,D,D,D,D,D,D
chr2,220075534,220075534,G,C,R007_S,ABCB6,Missense_Mutation,NM_001349828,exon15,c.C2017G,p.Q673E,SNP,SNVindel,exonic,ABCB6,NA,nonsynonymous SNV,"ABCB6:NM_001349828:exon15:c.C2017G:p.Q673E,ABCB6:NM_005689:exon16:c.C2155G:p.Q719E",T,D,D,D,N,T
chr2,220115772,220115772,G,A,R007_S,TUBA4A,Silent,NM_001278552,exon4,c.C604T,p.L202L,SNP,SNVindel,exonic,TUBA4A,NA,synonymous SNV,"TUBA4A:NM_001278552:exon4:c.C604T:p.L202L,TUBA4A:NM_006000:exon4:c.C649T:p.L217L",NA,NA,NA,NA,NA,NA
chr2,220167047,220167047,G,A,R007_S,PTPRN,Missense_Mutation,NM_001199763,exon6,c.C806T,p.P269L,SNP,SNVindel,exonic,PTPRN,NA,nonsynonymous SNV,"PTPRN:NM_001199763:exon6:c.C806T:p.P269L,PTPRN:NM_001199764:exon6:c.C536T:p.P179L,PTPRN:NM_002846:exon6:c.C806T:p.P269L",D,D,D,T,N,T
chr2,220251027,220251027,G,A,R007_S,DNPEP,Missense_Mutation,NM_001319116,exon5,c.C464T,p.A155V,SNP,SNVindel,exonic,DNPEP,NA,nonsynonymous SNV,"DNPEP:NM_001319116:exon5:c.C464T:p.A155V,DNPEP:NM_001319117:exon5:c.C464T:p.A155V,DNPEP:NM_001319118:exon5:c.C398T:p.A133V,DNPEP:NM_001319119:exon5:c.C398T:p.A133V,DNPEP:NM_001319120:exon5:c.C440T:p.A147V,DNPEP:NM_001319122:exon5:c.C281T:p.A94V,DNPEP:NM_012100:exon5:c.C440T:p.A147V,DNPEP:NM_001319121:exon6:c.C281T:p.A94V",D,D,D,.,D,D
chr2,220355301,220355301,C,T,R007_S,SPEG,Missense_Mutation,NM_005876,exon37,c.C9092T,p.T3031I,SNP,SNVindel,exonic,SPEG,NA,nonsynonymous SNV,SPEG:NM_005876:exon37:c.C9092T:p.T3031I,D,D,D,T,D,T
chr2,220406551,220406551,G,A,R007_S,CHPF,Silent,NM_001195731,exon2,c.C189T,p.Y63Y,SNP,SNVindel,exonic,CHPF,NA,synonymous SNV,"CHPF:NM_001195731:exon2:c.C189T:p.Y63Y,CHPF:NM_024536:exon2:c.C675T:p.Y225Y",NA,NA,NA,NA,NA,NA
chr2,220439662,220439662,C,T,R007_S,INHA,Missense_Mutation,NM_002191,exon2,c.C515T,p.A172V,SNP,SNVindel,exonic,INHA,NA,nonsynonymous SNV,INHA:NM_002191:exon2:c.C515T:p.A172V,D,N,N,D,N,T
chr2,220472785,220472785,G,A,R007_S,STK11IP,Silent,NM_052902,exon14,c.G1236A,p.Q412Q,SNP,SNVindel,exonic,STK11IP,NA,synonymous SNV,STK11IP:NM_052902:exon14:c.G1236A:p.Q412Q,NA,NA,NA,NA,NA,NA
chr2,220504315,220504315,G,A,R007_S,SLC4A3,Nonsense_Mutation,NM_001326559,exon20,c.G3216A,p.W1072X,SNP,SNVindel,exonic,SLC4A3,NA,stopgain,"SLC4A3:NM_001326559:exon20:c.G3216A:p.W1072X,SLC4A3:NM_005070:exon20:c.G3135A:p.W1045X,SLC4A3:NM_201574:exon20:c.G3216A:p.W1072X",.,D,A,.,.,.
chr2,223773548,223773548,C,T,R007_S,ACSL3,Missense_Mutation,NM_001354159,exon2,c.C58T,p.P20S,SNP,SNVindel,exonic,ACSL3,NA,nonsynonymous SNV,"ACSL3:NM_001354159:exon2:c.C58T:p.P20S,ACSL3:NM_001354158:exon3:c.C58T:p.P20S,ACSL3:NM_203372:exon3:c.C58T:p.P20S,ACSL3:NM_004457:exon4:c.C58T:p.P20S",T,D,D,T,N,T
chr2,223782855,223782855,C,T,R007_S,ACSL3,Silent,NM_001354159,exon4,c.C648T,p.L216L,SNP,SNVindel,exonic,ACSL3,NA,synonymous SNV,"ACSL3:NM_001354159:exon4:c.C648T:p.L216L,ACSL3:NM_001354158:exon5:c.C648T:p.L216L,ACSL3:NM_203372:exon5:c.C648T:p.L216L,ACSL3:NM_004457:exon6:c.C648T:p.L216L",NA,NA,NA,NA,NA,NA
chr2,223783782,223783782,G,A,R007_S,ACSL3,Missense_Mutation,NM_001354159,exon5,c.G667A,p.D223N,SNP,SNVindel,exonic,ACSL3,NA,nonsynonymous SNV,"ACSL3:NM_001354159:exon5:c.G667A:p.D223N,ACSL3:NM_001354158:exon6:c.G667A:p.D223N,ACSL3:NM_203372:exon6:c.G667A:p.D223N,ACSL3:NM_004457:exon7:c.G667A:p.D223N",T,N,D,T,N,T
chr2,224824591,224824591,G,A,R007_S,MRPL44,Missense_Mutation,NM_022915,exon2,c.G520A,p.A174T,SNP,SNVindel,exonic,MRPL44,NA,nonsynonymous SNV,MRPL44:NM_022915:exon2:c.G520A:p.A174T,D,D,D,T,N,T
chr2,225668856,225668856,C,T,R007_S,DOCK10,Missense_Mutation,NM_001290263,exon39,c.G4223A,p.C1408Y,SNP,SNVindel,exonic,DOCK10,NA,nonsynonymous SNV,"DOCK10:NM_001290263:exon39:c.G4223A:p.C1408Y,DOCK10:NM_001363762:exon39:c.G4280A:p.C1427Y,DOCK10:NM_014689:exon39:c.G4241A:p.C1414Y",T,N,N,T,N,T
chr2,225670033,225670033,G,A,R007_S,DOCK10,Missense_Mutation,NM_001290263,exon36,c.C3923T,p.P1308L,SNP,SNVindel,exonic,DOCK10,NA,nonsynonymous SNV,"DOCK10:NM_001290263:exon36:c.C3923T:p.P1308L,DOCK10:NM_001363762:exon36:c.C3980T:p.P1327L,DOCK10:NM_014689:exon36:c.C3941T:p.P1314L",T,N,D,T,N,T
chr2,227660350,227660350,G,A,R007_S,IRS1,Silent,NM_005544,exon1,c.C3105T,p.S1035S,SNP,SNVindel,exonic,IRS1,NA,synonymous SNV,IRS1:NM_005544:exon1:c.C3105T:p.S1035S,NA,NA,NA,NA,NA,NA
chr2,227872771,227872771,G,A,R007_S,COL4A4,Missense_Mutation,NM_000092,exon47,c.C4772T,p.T1591I,SNP,SNVindel,exonic,COL4A4,NA,nonsynonymous SNV,COL4A4:NM_000092:exon47:c.C4772T:p.T1591I,D,.,N,D,N,T
chr2,227983476,227983476,C,T,R007_S,COL4A4,Missense_Mutation,NM_000092,exon7,c.G374A,p.G125E,SNP,SNVindel,exonic,COL4A4,NA,nonsynonymous SNV,COL4A4:NM_000092:exon7:c.G374A:p.G125E,D,.,D,D,D,D
chr2,228104887,228104887,G,A,R007_S,COL4A3,Missense_Mutation,NM_000091,exon3,c.G173A,p.G58D,SNP,SNVindel,exonic,COL4A3,NA,nonsynonymous SNV,COL4A3:NM_000091:exon3:c.G173A:p.G58D,D,D,D,D,D,D
chr2,228149034,228149034,G,A,R007_S,COL4A3,Missense_Mutation,NM_000091,exon34,c.G2854A,p.G952R,SNP,SNVindel,exonic,COL4A3,NA,nonsynonymous SNV,COL4A3:NM_000091:exon34:c.G2854A:p.G952R,D,D,D,D,D,D
chr2,228155494,228155494,C,T,R007_S,COL4A3,Silent,NM_000091,exon37,c.C3102T,p.F1034F,SNP,SNVindel,exonic,COL4A3,NA,synonymous SNV,COL4A3:NM_000091:exon37:c.C3102T:p.F1034F,NA,NA,NA,NA,NA,NA
chr2,230127485,230127485,C,T,R007_S,PID1,Missense_Mutation,NM_017933,exon2,c.G37A,p.E13K,SNP,SNVindel,exonic,PID1,NA,nonsynonymous SNV,PID1:NM_017933:exon2:c.G37A:p.E13K,D,.,N,.,N,T
chr2,230672435,230672435,G,A,R007_S,TRIP12,Missense_Mutation,NM_001284216,exon14,c.C1450T,p.R484W,SNP,SNVindel,exonic,TRIP12,NA,nonsynonymous SNV,"TRIP12:NM_001284216:exon14:c.C1450T:p.R484W,TRIP12:NM_001284215:exon16:c.C2359T:p.R787W,TRIP12:NM_001348316:exon16:c.C2359T:p.R787W,TRIP12:NM_001348317:exon16:c.C2359T:p.R787W,TRIP12:NM_001348318:exon16:c.C2359T:p.R787W,TRIP12:NM_001348331:exon16:c.C2359T:p.R787W,TRIP12:NM_004238:exon16:c.C2341T:p.R781W,TRIP12:NM_001284214:exon17:c.C2485T:p.R829W,TRIP12:NM_001348315:exon17:c.C2485T:p.R829W,TRIP12:NM_001348319:exon17:c.C2485T:p.R829W,TRIP12:NM_001348320:exon17:c.C2485T:p.R829W,TRIP12:NM_001348321:exon17:c.C2485T:p.R829W,TRIP12:NM_001348323:exon17:c.C2485T:p.R829W,TRIP12:NM_001348324:exon17:c.C2485T:p.R829W,TRIP12:NM_001348326:exon17:c.C2485T:p.R829W,TRIP12:NM_001348327:exon17:c.C2485T:p.R829W,TRIP12:NM_001348328:exon17:c.C2485T:p.R829W,TRIP12:NM_001348329:exon17:c.C2485T:p.R829W,TRIP12:NM_001348330:exon17:c.C2485T:p.R829W,TRIP12:NM_001348333:exon17:c.C2485T:p.R829W,TRIP12:NM_001348322:exon18:c.C2485T:p.R829W,TRIP12:NM_001348325:exon18:c.C2485T:p.R829W,TRIP12:NM_001348332:exon18:c.C2398T:p.R800W",D,D,D,T,D,T
chr2,231738185,231738185,G,A,R007_S,ITM2C,Silent,NM_001012516,exon2,c.G174A,p.V58V,SNP,SNVindel,exonic,ITM2C,NA,synonymous SNV,"ITM2C:NM_001012516:exon2:c.G174A:p.V58V,ITM2C:NM_030926:exon2:c.G174A:p.V58V,ITM2C:NM_001287241:exon3:c.G174A:p.V58V",NA,NA,NA,NA,NA,NA
chr2,231861179,231861179,C,T,R007_S,SPATA3,Silent,NM_139073,exon1,c.C231T,p.I77I,SNP,SNVindel,exonic,SPATA3,NA,synonymous SNV,SPATA3:NM_139073:exon1:c.C231T:p.I77I,NA,NA,NA,NA,NA,NA
chr2,231988451,231988451,G,A,R007_S,HTR2B,Missense_Mutation,NM_000867,exon2,c.C28T,p.L10F,SNP,SNVindel,exonic,HTR2B,NA,nonsynonymous SNV,HTR2B:NM_000867:exon2:c.C28T:p.L10F,D,N,N,T,N,T
chr2,232319970,232319970,C,T,R007_S,NCL,Missense_Mutation,NM_005381,exon14,c.G2065A,p.G689S,SNP,SNVindel,exonic,NCL,NA,nonsynonymous SNV,NCL:NM_005381:exon14:c.G2065A:p.G689S,T,D,D,T,D,T
chr2,233028284,233028284,C,T,R007_S,DIS3L2,Missense_Mutation,NM_001257281,exon9,c.C1066T,p.P356S,SNP,SNVindel,exonic,DIS3L2,NA,nonsynonymous SNV,"DIS3L2:NM_001257281:exon9:c.C1066T:p.P356S,DIS3L2:NM_152383:exon9:c.C1066T:p.P356S",D,D,D,T,D,T
chr2,233348805,233348805,G,A,R007_S,ECEL1,Missense_Mutation,NM_001290787,exon7,c.C1313T,p.A438V,SNP,SNVindel,exonic,ECEL1,NA,nonsynonymous SNV,"ECEL1:NM_001290787:exon7:c.C1313T:p.A438V,ECEL1:NM_004826:exon7:c.C1313T:p.A438V",D,N,N,T,N,T
chr2,233407133,233407133,G,A,R007_S,CHRNG,Silent,NM_005199,exon6,c.G507A,p.Q169Q,SNP,SNVindel,exonic,CHRNG,NA,synonymous SNV,CHRNG:NM_005199:exon6:c.G507A:p.Q169Q,NA,NA,NA,NA,NA,NA
chr2,233409542,233409542,C,T,R007_S,CHRNG,Missense_Mutation,NM_005199,exon11,c.C1310T,p.A437V,SNP,SNVindel,exonic,CHRNG,NA,nonsynonymous SNV,CHRNG:NM_005199:exon11:c.C1310T:p.A437V,D,N,D,D,N,D
chr2,233599939,233599939,G,A,R007_S,GIGYF2,Missense_Mutation,NM_001103148,exon2,c.G32A,p.G11E,SNP,SNVindel,exonic,GIGYF2,NA,nonsynonymous SNV,"GIGYF2:NM_001103148:exon2:c.G32A:p.G11E,GIGYF2:NM_001103146:exon3:c.G32A:p.G11E,GIGYF2:NM_001103147:exon4:c.G32A:p.G11E,GIGYF2:NM_015575:exon5:c.G32A:p.G11E",D,D,D,D,D,D
chr2,233635963,233635963,C,T,R007_S,KCNJ13,Missense_Mutation,NM_001172416,exon2,c.G110A,p.G37D,SNP,SNVindel,exonic,KCNJ13,NA,nonsynonymous SNV,"KCNJ13:NM_001172416:exon2:c.G110A:p.G37D,KCNJ13:NM_002242:exon2:c.G110A:p.G37D",T,D,D,T,N,D
chr2,233740709,233740709,G,A,R007_S,SNORC,Missense_Mutation,NM_001346121,exon2,c.G166A,p.G56R,SNP,SNVindel,exonic,SNORC,NA,nonsynonymous SNV,"SNORC:NM_001346121:exon2:c.G166A:p.G56R,SNORC:NM_001346120:exon3:c.G205A:p.G69R,SNORC:NM_001346122:exon3:c.G133A:p.G45R,SNORC:NM_206895:exon3:c.G133A:p.G45R",D,D,D,.,D,T
chr2,233995307,233995307,G,A,R007_S,INPP5D,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,INPP5D,NA,unknown,UNKNOWN,T,N,N,D,N,T
chr2,234079225,234079225,G,A,R007_S,INPP5D,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,INPP5D,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr2,234431931,234431931,G,A,R007_S,USP40,Missense_Mutation,NM_018218,exon15,c.C2083T,p.P695S,SNP,SNVindel,exonic,USP40,NA,nonsynonymous SNV,"USP40:NM_018218:exon15:c.C2083T:p.P695S,USP40:NM_001365479:exon16:c.C2086T:p.P696S",T,N,N,T,N,T
chr2,234722378,234722378,C,T,R007_S,MROH2A,Missense_Mutation,NM_001367507,exon25,c.C2714T,p.S905F,SNP,SNVindel,exonic,MROH2A,NA,nonsynonymous SNV,MROH2A:NM_001367507:exon25:c.C2714T:p.S905F,D,N,N,T,D,T
chr2,234731646,234731646,G,A,R007_S,MROH2A,Missense_Mutation,NM_001367507,exon34,c.G3986A,p.G1329D,SNP,SNVindel,exonic,MROH2A,NA,nonsynonymous SNV,MROH2A:NM_001367507:exon34:c.G3986A:p.G1329D,D,U,N,T,D,T
chr2,234749975,234749975,C,T,R007_S,HJURP,Missense_Mutation,NM_001282963,exon5,c.G1196A,p.R399K,SNP,SNVindel,exonic,HJURP,NA,nonsynonymous SNV,"HJURP:NM_001282963:exon5:c.G1196A:p.R399K,HJURP:NM_001282962:exon6:c.G1289A:p.R430K,HJURP:NM_018410:exon8:c.G1451A:p.R484K",T,N,N,T,N,T
chr2,234835286,234835286,C,T,R007_S,TRPM8,Missense_Mutation,NM_024080,exon2,c.C104T,p.S35F,SNP,SNVindel,exonic,TRPM8,NA,nonsynonymous SNV,TRPM8:NM_024080:exon2:c.C104T:p.S35F,D,D,D,T,N,T
chr2,236817492,236817492,C,T,R007_S,AGAP1,Silent,NM_001037131,exon11,c.C1266T,p.S422S,SNP,SNVindel,exonic,AGAP1,NA,synonymous SNV,"AGAP1:NM_001037131:exon11:c.C1266T:p.S422S,AGAP1:NM_014914:exon11:c.C1266T:p.S422S",NA,NA,NA,NA,NA,NA
chr2,237308128,237308128,C,T,R007_S,IQCA1,Missense_Mutation,NM_001270584,exon8,c.G1015A,p.E339K,SNP,SNVindel,exonic,IQCA1,NA,nonsynonymous SNV,"IQCA1:NM_001270584:exon8:c.G1015A:p.E339K,IQCA1:NM_001270585:exon9:c.G1159A:p.E387K,IQCA1:NM_024726:exon9:c.G1138A:p.E380K",T,D,D,D,N,T
chr2,237374312,237374312,G,A,R007_S,IQCA1,Silent,NM_001270584,exon6,c.C762T,p.I254I,SNP,SNVindel,exonic,IQCA1,NA,synonymous SNV,"IQCA1:NM_001270584:exon6:c.C762T:p.I254I,IQCA1:NM_001270585:exon6:c.C783T:p.I261I,IQCA1:NM_024726:exon6:c.C762T:p.I254I",NA,NA,NA,NA,NA,NA
chr2,238004519,238004519,G,A,R007_S,COPS8,Missense_Mutation,NM_006710,exon6,c.G494A,p.R165K,SNP,SNVindel,exonic,COPS8,NA,nonsynonymous SNV,"COPS8:NM_006710:exon6:c.G494A:p.R165K,COPS8:NM_198189:exon7:c.G347A:p.R116K",T,N,N,.,N,T
chr2,238296588,238296588,C,T,R007_S,COL6A3,Missense_Mutation,NM_057165,exon3,c.G331A,p.G111R,SNP,SNVindel,exonic,COL6A3,NA,nonsynonymous SNV,"COL6A3:NM_057165:exon3:c.G331A:p.G111R,COL6A3:NM_057167:exon3:c.G331A:p.G111R,COL6A3:NM_004369:exon4:c.G949A:p.G317R",T,U,D,D,D,D
chr2,239010713,239010713,C,T,R007_S,ESPNL,Silent,NM_194312,exon2,c.C426T,p.H142H,SNP,SNVindel,exonic,ESPNL,NA,synonymous SNV,ESPNL:NM_194312:exon2:c.C426T:p.H142H,NA,NA,NA,NA,NA,NA
chr2,239038888,239038888,G,A,R007_S,ESPNL,Silent,NM_001308370,exon4,c.G429A,p.E143E,SNP,SNVindel,exonic,ESPNL,NA,synonymous SNV,"ESPNL:NM_001308370:exon4:c.G429A:p.E143E,ESPNL:NM_194312:exon9:c.G1533A:p.E511E",NA,NA,NA,NA,NA,NA
chr2,240048206,240048206,C,T,R007_S,HDAC4,Silent,NM_006037,exon12,c.G1464A,p.Q488Q,SNP,SNVindel,exonic,HDAC4,NA,synonymous SNV,HDAC4:NM_006037:exon12:c.G1464A:p.Q488Q,NA,NA,NA,NA,NA,NA
chr2,241398540,241398540,C,T,R007_S,GPC1,Missense_Mutation,NM_002081,exon2,c.C260T,p.T87I,SNP,SNVindel,exonic,GPC1,NA,nonsynonymous SNV,GPC1:NM_002081:exon2:c.C260T:p.T87I,T,N,N,T,D,T
chr2,241534493,241534493,G,A,R007_S,CAPN10,Silent,NM_023083,exon7,c.G1050A,p.Q350Q,SNP,SNVindel,exonic,CAPN10,NA,synonymous SNV,"CAPN10:NM_023083:exon7:c.G1050A:p.Q350Q,CAPN10:NM_023085:exon7:c.G1050A:p.Q350Q",NA,NA,NA,NA,NA,NA
chr2,241569936,241569936,C,T,R007_S,GPR35,Silent,NM_005301,exon2,c.C567T,p.F189F,SNP,SNVindel,exonic,GPR35,NA,synonymous SNV,"GPR35:NM_005301:exon2:c.C567T:p.F189F,GPR35:NM_001195381:exon6:c.C660T:p.F220F,GPR35:NM_001195382:exon6:c.C660T:p.F220F",NA,NA,NA,NA,NA,NA
chr2,241685484,241685484,G,A,R007_S,KIF1A,Silent,NM_004321,exon28,c.C2871T,p.A957A,SNP,SNVindel,exonic,KIF1A,NA,synonymous SNV,"KIF1A:NM_004321:exon28:c.C2871T:p.A957A,KIF1A:NM_001320705:exon29:c.C2898T:p.A966A,KIF1A:NM_001330289:exon29:c.C2898T:p.A966A,KIF1A:NM_001330290:exon29:c.C2973T:p.A991A,KIF1A:NM_001244008:exon30:c.C3174T:p.A1058A",NA,NA,NA,NA,NA,NA
chr2,241685519,241685519,C,T,R007_S,KIF1A,Missense_Mutation,NM_004321,exon28,c.G2836A,p.G946S,SNP,SNVindel,exonic,KIF1A,NA,nonsynonymous SNV,"KIF1A:NM_004321:exon28:c.G2836A:p.G946S,KIF1A:NM_001320705:exon29:c.G2863A:p.G955S,KIF1A:NM_001330289:exon29:c.G2863A:p.G955S,KIF1A:NM_001330290:exon29:c.G2938A:p.G980S,KIF1A:NM_001244008:exon30:c.G3139A:p.G1047S",T,U,D,D,D,D
chr2,241696928,241696928,G,A,R007_S,KIF1A,Missense_Mutation,NM_001244008,exon27,c.C2666T,p.T889I,SNP,SNVindel,exonic,KIF1A,NA,nonsynonymous SNV,KIF1A:NM_001244008:exon27:c.C2666T:p.T889I,D,.,D,T,N,D
chr2,241702660,241702660,C,T,R007_S,KIF1A,Silent,NM_004321,exon20,c.G1845A,p.E615E,SNP,SNVindel,exonic,KIF1A,NA,synonymous SNV,"KIF1A:NM_004321:exon20:c.G1845A:p.E615E,KIF1A:NM_001244008:exon21:c.G1872A:p.E624E,KIF1A:NM_001320705:exon21:c.G1872A:p.E624E,KIF1A:NM_001330289:exon21:c.G1872A:p.E624E,KIF1A:NM_001330290:exon21:c.G1947A:p.E649E",NA,NA,NA,NA,NA,NA
chr2,241708574,241708574,G,A,R007_S,KIF1A,Silent,NM_004321,exon16,c.C1446T,p.T482T,SNP,SNVindel,exonic,KIF1A,NA,synonymous SNV,"KIF1A:NM_004321:exon16:c.C1446T:p.T482T,KIF1A:NM_001244008:exon17:c.C1473T:p.T491T,KIF1A:NM_001320705:exon17:c.C1473T:p.T491T,KIF1A:NM_001330289:exon17:c.C1473T:p.T491T,KIF1A:NM_001330290:exon17:c.C1548T:p.T516T",NA,NA,NA,NA,NA,NA
chr2,241737085,241737085,G,A,R007_S,KIF1A,Nonsense_Mutation,NM_001244008,exon2,c.C85T,p.Q29X,SNP,SNVindel,exonic,KIF1A,NA,stopgain,"KIF1A:NM_001244008:exon2:c.C85T:p.Q29X,KIF1A:NM_001320705:exon2:c.C85T:p.Q29X,KIF1A:NM_001330289:exon2:c.C85T:p.Q29X,KIF1A:NM_001330290:exon2:c.C85T:p.Q29X,KIF1A:NM_004321:exon2:c.C85T:p.Q29X",.,U,A,.,.,.
chr2,241872187,241872187,G,A,R007_S,CROCC2,Silent,NM_001351305,exon9,c.G1113A,p.R371R,SNP,SNVindel,exonic,CROCC2,NA,synonymous SNV,CROCC2:NM_001351305:exon9:c.G1113A:p.R371R,NA,NA,NA,NA,NA,NA
chr2,242066817,242066817,G,A,R007_S,PASK,Silent,NM_001252119,exon10,c.C1513T,p.L505L,SNP,SNVindel,exonic,PASK,NA,synonymous SNV,"PASK:NM_001252119:exon10:c.C1513T:p.L505L,PASK:NM_001252122:exon10:c.C1408T:p.L470L,PASK:NM_001252124:exon10:c.C1513T:p.L505L,PASK:NM_015148:exon10:c.C1513T:p.L505L,PASK:NM_001252120:exon11:c.C1513T:p.L505L",NA,NA,NA,NA,NA,NA
chr2,242155577,242155577,G,A,R007_S,ANO7,Silent,NM_001370694,exon19,c.G1896A,p.G632G,SNP,SNVindel,exonic,ANO7,NA,synonymous SNV,ANO7:NM_001370694:exon19:c.G1896A:p.G632G,NA,NA,NA,NA,NA,NA
chr2,242573334,242573334,C,T,R007_S,THAP4,Missense_Mutation,NM_015963,exon2,c.G238A,p.A80T,SNP,SNVindel,exonic,THAP4,NA,nonsynonymous SNV,THAP4:NM_015963:exon2:c.G238A:p.A80T,D,N,D,D,N,D
chr2,242617918,242617918,C,T,R007_S,DTYMK,Missense_Mutation,NM_001320903,exon3,c.G314A,p.G105E,SNP,SNVindel,exonic,DTYMK,NA,nonsynonymous SNV,DTYMK:NM_001320903:exon3:c.G314A:p.G105E,NA,NA,NA,NA,NA,NA
chr3,404927,404927,G,A,R007_S,CHL1,Silent,NM_001253388,exon12,c.G1446A,p.L482L,SNP,SNVindel,exonic,CHL1,NA,synonymous SNV,"CHL1:NM_001253388:exon12:c.G1446A:p.L482L,CHL1:NM_001253387:exon13:c.G1398A:p.L466L,CHL1:NM_006614:exon14:c.G1446A:p.L482L",NA,NA,NA,NA,NA,NA
chr3,447208,447208,C,T,R007_S,CHL1,Silent,NM_001253388,exon25,c.C3330T,p.S1110S,SNP,SNVindel,exonic,CHL1,NA,synonymous SNV,"CHL1:NM_001253388:exon25:c.C3330T:p.S1110S,CHL1:NM_001253387:exon27:c.C3441T:p.S1147S,CHL1:NM_006614:exon28:c.C3489T:p.S1163S",NA,NA,NA,NA,NA,NA
chr3,1414027,1414027,G,A,R007_S,CNTN6,Missense_Mutation,NM_001349357,exon11,c.G1225A,p.V409I,SNP,SNVindel,exonic,CNTN6,NA,nonsynonymous SNV,"CNTN6:NM_001349357:exon11:c.G1225A:p.V409I,CNTN6:NM_001349358:exon11:c.G982A:p.V328I,CNTN6:NM_001349359:exon11:c.G415A:p.V139I,CNTN6:NM_001349360:exon11:c.G415A:p.V139I,CNTN6:NM_001289081:exon12:c.G1321A:p.V441I,CNTN6:NM_001349356:exon12:c.G1429A:p.V477I,CNTN6:NM_001349362:exon12:c.G415A:p.V139I,CNTN6:NM_001289080:exon13:c.G1537A:p.V513I,CNTN6:NM_014461:exon13:c.G1537A:p.V513I,CNTN6:NM_001349352:exon14:c.G1537A:p.V513I,CNTN6:NM_001349353:exon14:c.G1537A:p.V513I,CNTN6:NM_001349354:exon14:c.G1537A:p.V513I,CNTN6:NM_001349355:exon14:c.G1537A:p.V513I,CNTN6:NM_001349361:exon14:c.G415A:p.V139I,CNTN6:NM_001349350:exon15:c.G1537A:p.V513I,CNTN6:NM_001349351:exon15:c.G1537A:p.V513I",D,D,D,T,N,T
chr3,3886601,3886601,G,A,R007_S,LRRN1,Silent,NM_020873,exon2,c.G276A,p.Q92Q,SNP,SNVindel,exonic,LRRN1,NA,synonymous SNV,"LRRN1:NM_020873:exon2:c.G276A:p.Q92Q,LRRN1:NM_001324188:exon3:c.G276A:p.Q92Q,LRRN1:NM_001324189:exon3:c.G276A:p.Q92Q",NA,NA,NA,NA,NA,NA
chr3,6903231,6903231,G,A,R007_S,GRM7,Silent,NM_000844,exon1,c.G156A,p.G52G,SNP,SNVindel,exonic,GRM7,NA,synonymous SNV,"GRM7:NM_000844:exon1:c.G156A:p.G52G,GRM7:NM_181874:exon1:c.G156A:p.G52G",NA,NA,NA,NA,NA,NA
chr3,9781118,9781118,C,T,R007_S,BRPF1,Silent,NM_001003694,exon3,c.C1035T,p.D345D,SNP,SNVindel,exonic,BRPF1,NA,synonymous SNV,"BRPF1:NM_001003694:exon3:c.C1035T:p.D345D,BRPF1:NM_001319049:exon3:c.C1035T:p.D345D,BRPF1:NM_001319050:exon3:c.C1035T:p.D345D,BRPF1:NM_004634:exon3:c.C1035T:p.D345D",NA,NA,NA,NA,NA,NA
chr3,10084751,10084751,G,A,R007_S,FANCD2,Silent,NM_001018115,exon12,c.G906A,p.R302R,SNP,SNVindel,exonic,FANCD2,NA,synonymous SNV,"FANCD2:NM_001018115:exon12:c.G906A:p.R302R,FANCD2:NM_001319984:exon12:c.G906A:p.R302R,FANCD2:NM_033084:exon12:c.G906A:p.R302R",NA,NA,NA,NA,NA,NA
chr3,10319997,10319997,C,T,R007_S,TATDN2,Missense_Mutation,NM_014760,exon6,c.C1996T,p.P666S,SNP,SNVindel,exonic,TATDN2,NA,nonsynonymous SNV,TATDN2:NM_014760:exon6:c.C1996T:p.P666S,D,U,D,T,D,T
chr3,11067474,11067474,G,A,R007_S,SLC6A1,Missense_Mutation,NM_001348252,exon8,c.G331A,p.A111T,SNP,SNVindel,exonic,SLC6A1,NA,nonsynonymous SNV,"SLC6A1:NM_001348252:exon8:c.G331A:p.A111T,SLC6A1:NM_001348253:exon8:c.G331A:p.A111T,SLC6A1:NM_001348250:exon9:c.G865A:p.A289T,SLC6A1:NM_001348251:exon9:c.G505A:p.A169T,SLC6A1:NM_003042:exon9:c.G865A:p.A289T",D,D,D,T,N,D
chr3,11404310,11404310,C,T,R007_S,ATG7,Silent,NM_001144912,exon14,c.C1590T,p.D530D,SNP,SNVindel,exonic,ATG7,NA,synonymous SNV,"ATG7:NM_001144912:exon14:c.C1590T:p.D530D,ATG7:NM_001349236:exon14:c.C1590T:p.D530D,ATG7:NM_001349237:exon14:c.C1548T:p.D516D,ATG7:NM_001349238:exon14:c.C774T:p.D258D,ATG7:NM_001136031:exon15:c.C1707T:p.D569D,ATG7:NM_006395:exon15:c.C1707T:p.D569D,ATG7:NM_001349233:exon16:c.C1707T:p.D569D,ATG7:NM_001349234:exon16:c.C1707T:p.D569D,ATG7:NM_001349235:exon16:c.C1707T:p.D569D,ATG7:NM_001349232:exon17:c.C1707T:p.D569D",NA,NA,NA,NA,NA,NA
chr3,11606453,11606453,C,T,R007_S,VGLL4,Missense_Mutation,NM_001128220,exon2,c.G55A,p.E19K,SNP,SNVindel,exonic,VGLL4,NA,nonsynonymous SNV,"VGLL4:NM_001128220:exon2:c.G55A:p.E19K,VGLL4:NM_001128221:exon2:c.G43A:p.E15K,VGLL4:NM_001128219:exon3:c.G313A:p.E105K,VGLL4:NM_001284391:exon3:c.G118A:p.E40K,VGLL4:NM_014667:exon4:c.G295A:p.E99K,VGLL4:NM_001284390:exon5:c.G310A:p.E104K",D,D,D,T,N,T
chr3,12978129,12978129,C,T,R007_S,IQSEC1,Silent,NM_001134382,exon3,c.G387A,p.T129T,SNP,SNVindel,exonic,IQSEC1,NA,synonymous SNV,"IQSEC1:NM_001134382:exon3:c.G387A:p.T129T,IQSEC1:NM_001330619:exon3:c.G63A:p.T21T,IQSEC1:NM_014869:exon3:c.G429A:p.T143T",NA,NA,NA,NA,NA,NA
chr3,13413425,13413425,G,A,R007_S,NUP210,Silent,NM_024923,exon13,c.C1695T,p.G565G,SNP,SNVindel,exonic,NUP210,NA,synonymous SNV,NUP210:NM_024923:exon13:c.C1695T:p.G565G,NA,NA,NA,NA,NA,NA
chr3,13542251,13542251,G,A,R007_S,HDAC11,Missense_Mutation,NM_001136041,exon6,c.G298A,p.G100S,SNP,SNVindel,exonic,HDAC11,NA,nonsynonymous SNV,"HDAC11:NM_001136041:exon6:c.G298A:p.G100S,HDAC11:NM_024827:exon6:c.G451A:p.G151S",.,D,D,D,D,D
chr3,14199757,14199757,C,T,R007_S,XPC,Nonsense_Mutation,NM_001354726,exon8,c.G1047A,p.W349X,SNP,SNVindel,exonic,XPC,NA,stopgain,"XPC:NM_001354726:exon8:c.G1047A:p.W349X,XPC:NM_001354727:exon9:c.G1626A:p.W542X,XPC:NM_001354729:exon9:c.G1608A:p.W536X,XPC:NM_001354730:exon9:c.G1626A:p.W542X,XPC:NM_004628:exon9:c.G1626A:p.W542X",.,D,A,.,.,.
chr3,14518746,14518746,G,A,R007_S,SLC6A6,Missense_Mutation,NM_003043,exon11,c.G1243A,p.V415I,SNP,SNVindel,exonic,SLC6A6,NA,nonsynonymous SNV,"SLC6A6:NM_003043:exon11:c.G1243A:p.V415I,SLC6A6:NM_001134367:exon19:c.G1546A:p.V516I",.,D,D,.,.,T
chr3,14523271,14523271,C,T,R007_S,SLC6A6,Silent,NM_003043,exon14,c.C1644T,p.S548S,SNP,SNVindel,exonic,SLC6A6,NA,synonymous SNV,"SLC6A6:NM_003043:exon14:c.C1644T:p.S548S,SLC6A6:NM_001134367:exon22:c.C1947T:p.S649S",NA,NA,NA,NA,NA,NA
chr3,15303788,15303788,C,T,R007_S,SH3BP5,Silent,NM_001018009,exon5,c.G33A,p.E11E,SNP,SNVindel,exonic,SH3BP5,NA,synonymous SNV,"SH3BP5:NM_001018009:exon5:c.G33A:p.E11E,SH3BP5:NM_004844:exon5:c.G504A:p.E168E",NA,NA,NA,NA,NA,NA
chr3,15686192,15686192,C,T,R007_S,BTD,Missense_Mutation,NM_001281723,exon4,c.C769T,p.P257S,SNP,SNVindel,exonic,BTD,NA,nonsynonymous SNV,"BTD:NM_001281723:exon4:c.C769T:p.P257S,BTD:NM_001281725:exon4:c.C769T:p.P257S,BTD:NM_001370658:exon4:c.C769T:p.P257S,BTD:NM_001370752:exon4:c.C769T:p.P257S,BTD:NM_001323582:exon5:c.C769T:p.P257S,BTD:NM_001281724:exon6:c.C769T:p.P257S",D,D,D,D,D,D
chr3,16261459,16261459,G,A,R007_S,GALNT15,Missense_Mutation,NM_001319052,exon3,c.G157A,p.E53K,SNP,SNVindel,exonic,GALNT15,NA,nonsynonymous SNV,"GALNT15:NM_001319052:exon3:c.G157A:p.E53K,GALNT15:NM_001319051:exon8:c.G1567A:p.E523K,GALNT15:NM_054110:exon8:c.G1567A:p.E523K",D,N,N,T,N,T
chr3,16268971,16268971,G,A,R007_S,GALNT15,Nonsense_Mutation,NM_001319052,exon5,c.G474A,p.W158X,SNP,SNVindel,exonic,GALNT15,NA,stopgain,"GALNT15:NM_001319052:exon5:c.G474A:p.W158X,GALNT15:NM_054110:exon10:c.G1884A:p.W628X",.,.,D,.,.,T
chr3,19975362,19975362,C,T,R007_S,EFHB,Missense_Mutation,NM_144715,exon1,c.G149A,p.S50N,SNP,SNVindel,exonic,EFHB,NA,nonsynonymous SNV,EFHB:NM_144715:exon1:c.G149A:p.S50N,T,.,N,T,N,T
chr3,20215821,20215821,G,A,R007_S,SGO1,Missense_Mutation,NM_001012409,exon6,c.C1202T,p.T401I,SNP,SNVindel,exonic,SGO1,NA,nonsynonymous SNV,"SGO1:NM_001012409:exon6:c.C1202T:p.T401I,SGO1:NM_001012410:exon6:c.C1202T:p.T401I,SGO1:NM_001199251:exon6:c.C1202T:p.T401I,SGO1:NM_001199252:exon6:c.C1202T:p.T401I",D,N,N,T,N,T
chr3,25820176,25820176,G,A,R007_S,NGLY1,Silent,NM_001145293,exon2,c.C135T,p.N45N,SNP,SNVindel,exonic,NGLY1,NA,synonymous SNV,"NGLY1:NM_001145293:exon2:c.C135T:p.N45N,NGLY1:NM_001145294:exon2:c.C9T:p.N3N,NGLY1:NM_001145295:exon2:c.C135T:p.N45N,NGLY1:NM_018297:exon2:c.C135T:p.N45N",NA,NA,NA,NA,NA,NA
chr3,25835890,25835890,G,A,R007_S,OXSM,Missense_Mutation,NM_017897,exon3,c.G1285A,p.A429T,SNP,SNVindel,exonic,OXSM,NA,nonsynonymous SNV,"OXSM:NM_017897:exon3:c.G1285A:p.A429T,OXSM:NM_001145391:exon4:c.G1036A:p.A346T",T,N,D,.,N,T
chr3,27346354,27346354,G,A,R007_S,NEK10,Silent,NM_152534,exon13,c.C912T,p.H304H,SNP,SNVindel,exonic,NEK10,NA,synonymous SNV,"NEK10:NM_152534:exon13:c.C912T:p.H304H,NEK10:NM_199347:exon13:c.C912T:p.H304H",NA,NA,NA,NA,NA,NA
chr3,27477957,27477957,G,A,R007_S,SLC4A7,Missense_Mutation,NM_001258379,exon5,c.C499T,p.L167F,SNP,SNVindel,exonic,SLC4A7,NA,nonsynonymous SNV,"SLC4A7:NM_001258379:exon5:c.C499T:p.L167F,SLC4A7:NM_001258380:exon5:c.C484T:p.L162F,SLC4A7:NM_001321103:exon5:c.C511T:p.L171F,SLC4A7:NM_001321104:exon5:c.C511T:p.L171F,SLC4A7:NM_001321105:exon5:c.C511T:p.L171F,SLC4A7:NM_001321106:exon5:c.C499T:p.L167F,SLC4A7:NM_001321107:exon5:c.C499T:p.L167F,SLC4A7:NM_001321108:exon5:c.C511T:p.L171F,SLC4A7:NM_003615:exon5:c.C484T:p.L162F",D,D,D,T,D,D
chr3,27759141,27759141,C,T,R007_S,EOMES,Missense_Mutation,NM_001278182,exon6,c.G1538A,p.R513K,SNP,SNVindel,exonic,EOMES,NA,nonsynonymous SNV,"EOMES:NM_001278182:exon6:c.G1538A:p.R513K,EOMES:NM_001278183:exon6:c.G653A:p.R218K,EOMES:NM_005442:exon6:c.G1481A:p.R494K",D,N,D,D,N,D
chr3,32750280,32750280,G,A,R007_S,CNOT10,Missense_Mutation,NM_001256741,exon4,c.G398A,p.G133D,SNP,SNVindel,exonic,CNOT10,NA,nonsynonymous SNV,"CNOT10:NM_001256741:exon4:c.G398A:p.G133D,CNOT10:NM_001256742:exon4:c.G578A:p.G193D,CNOT10:NM_015442:exon4:c.G398A:p.G133D",D,D,D,T,N,T
chr3,32767033,32767033,G,A,R007_S,CNOT10,Silent,NM_001256741,exon9,c.G954A,p.K318K,SNP,SNVindel,exonic,CNOT10,NA,synonymous SNV,"CNOT10:NM_001256741:exon9:c.G954A:p.K318K,CNOT10:NM_001256742:exon9:c.G1134A:p.K378K,CNOT10:NM_015442:exon9:c.G954A:p.K318K",NA,NA,NA,NA,NA,NA
chr3,32859731,32859731,G,A,R007_S,TRIM71,Silent,NM_001039111,exon1,c.G159A,p.A53A,SNP,SNVindel,exonic,TRIM71,NA,synonymous SNV,TRIM71:NM_001039111:exon1:c.G159A:p.A53A,NA,NA,NA,NA,NA,NA
chr3,35835396,35835396,C,T,R007_S,ARPP21,Silent,NM_001267617,exon19,c.C2328T,p.S776S,SNP,SNVindel,exonic,ARPP21,NA,synonymous SNV,"ARPP21:NM_001267617:exon19:c.C2328T:p.S776S,ARPP21:NM_001267619:exon19:c.C2388T:p.S796S,ARPP21:NM_016300:exon20:c.C2385T:p.S795S",NA,NA,NA,NA,NA,NA
chr3,37493966,37493966,C,T,R007_S,ITGA9,Missense_Mutation,NM_002207,exon1,c.C101T,p.P34L,SNP,SNVindel,exonic,ITGA9,NA,nonsynonymous SNV,ITGA9:NM_002207:exon1:c.C101T:p.P34L,T,U,N,T,N,T
chr3,38052707,38052707,G,A,R007_S,PLCD1,Missense_Mutation,NM_001130964,exon5,c.C851T,p.T284I,SNP,SNVindel,exonic,PLCD1,NA,nonsynonymous SNV,"PLCD1:NM_001130964:exon5:c.C851T:p.T284I,PLCD1:NM_006225:exon5:c.C788T:p.T263I",D,N,N,T,D,T
chr3,38317473,38317473,C,T,R007_S,SLC22A13,Missense_Mutation,NM_004256,exon7,c.C1123T,p.P375S,SNP,SNVindel,exonic,SLC22A13,NA,nonsynonymous SNV,SLC22A13:NM_004256:exon7:c.C1123T:p.P375S,D,D,D,T,D,D
chr3,38347542,38347542,G,A,R007_S,SLC22A14,Missense_Mutation,NM_004803,exon1,c.G25A,p.E9K,SNP,SNVindel,exonic,SLC22A14,NA,nonsynonymous SNV,"SLC22A14:NM_004803:exon1:c.G25A:p.E9K,SLC22A14:NM_001320033:exon2:c.G25A:p.E9K",T,N,N,T,N,T
chr3,38645215,38645215,G,A,R007_S,SCN5A,Silent,NM_000335,exon12,c.C1878T,p.H626H,SNP,SNVindel,exonic,SCN5A,NA,synonymous SNV,"SCN5A:NM_000335:exon12:c.C1878T:p.H626H,SCN5A:NM_001099404:exon12:c.C1878T:p.H626H,SCN5A:NM_001099405:exon12:c.C1878T:p.H626H,SCN5A:NM_001160160:exon12:c.C1878T:p.H626H,SCN5A:NM_001160161:exon12:c.C1878T:p.H626H,SCN5A:NM_001354701:exon12:c.C1878T:p.H626H,SCN5A:NM_198056:exon12:c.C1878T:p.H626H",NA,NA,NA,NA,NA,NA
chr3,38770137,38770137,G,A,R007_S,SCN10A,Missense_Mutation,NM_001293307,exon14,c.C2242T,p.L748F,SNP,SNVindel,exonic,SCN10A,NA,nonsynonymous SNV,"SCN10A:NM_001293307:exon14:c.C2242T:p.L748F,SCN10A:NM_001293306:exon15:c.C2536T:p.L846F,SCN10A:NM_006514:exon15:c.C2536T:p.L846F",D,D,D,D,D,D
chr3,39226569,39226569,C,T,R007_S,XIRP1,Silent,NM_001351377,exon2,c.G417A,p.G139G,SNP,SNVindel,exonic,XIRP1,NA,synonymous SNV,"XIRP1:NM_001351377:exon2:c.G417A:p.G139G,XIRP1:NM_194293:exon2:c.G4368A:p.G1456G",NA,NA,NA,NA,NA,NA
chr3,39227471,39227471,C,T,R007_S,XIRP1,Missense_Mutation,NM_194293,exon2,c.G3466A,p.G1156S,SNP,SNVindel,exonic,XIRP1,NA,nonsynonymous SNV,XIRP1:NM_194293:exon2:c.G3466A:p.G1156S,T,U,N,T,N,T
chr3,40085712,40085712,C,T,R007_S,MYRIP,Missense_Mutation,NM_001284425,exon3,c.C152T,p.P51L,SNP,SNVindel,exonic,MYRIP,NA,nonsynonymous SNV,MYRIP:NM_001284425:exon3:c.C152T:p.P51L,D,.,D,T,N,T
chr3,40293437,40293437,G,A,R007_S,MYRIP,Missense_Mutation,NM_001284426,exon14,c.G1933A,p.G645S,SNP,SNVindel,exonic,MYRIP,NA,nonsynonymous SNV,"MYRIP:NM_001284426:exon14:c.G1933A:p.G645S,MYRIP:NM_001284424:exon15:c.G2299A:p.G767S,MYRIP:NM_001284425:exon15:c.G2227A:p.G743S,MYRIP:NM_001284423:exon16:c.G2494A:p.G832S,MYRIP:NM_015460:exon16:c.G2494A:p.G832S",D,N,D,T,D,T
chr3,40557960,40557960,G,A,R007_S,ZNF620,Missense_Mutation,NM_001256167,exon3,c.G533A,p.S178N,SNP,SNVindel,exonic,ZNF620,NA,nonsynonymous SNV,"ZNF620:NM_001256167:exon3:c.G533A:p.S178N,ZNF620:NM_001256168:exon3:c.G533A:p.S178N,ZNF620:NM_175888:exon5:c.G875A:p.S292N",T,.,N,T,N,T
chr3,40574462,40574462,C,T,R007_S,ZNF621,Silent,NM_001098414,exon5,c.C1201T,p.L401L,SNP,SNVindel,exonic,ZNF621,NA,synonymous SNV,"ZNF621:NM_001098414:exon5:c.C1201T:p.L401L,ZNF621:NM_198484:exon5:c.C1201T:p.L401L",NA,NA,NA,NA,NA,NA
chr3,41275659,41275659,C,T,R007_S,CTNNB1,Silent,NM_001098209,exon10,c.C1554T,p.A518A,SNP,SNVindel,exonic,CTNNB1,NA,synonymous SNV,"CTNNB1:NM_001098209:exon10:c.C1554T:p.A518A,CTNNB1:NM_001098210:exon10:c.C1554T:p.A518A,CTNNB1:NM_001904:exon10:c.C1554T:p.A518A,CTNNB1:NM_001330729:exon11:c.C1533T:p.A511A",NA,NA,NA,NA,NA,NA
chr3,42233110,42233110,G,A,R007_S,TRAK1,Missense_Mutation,NM_001265609,exon6,c.G529A,p.D177N,SNP,SNVindel,exonic,TRAK1,NA,nonsynonymous SNV,"TRAK1:NM_001265609:exon6:c.G529A:p.D177N,TRAK1:NM_001265610:exon6:c.G529A:p.D177N,TRAK1:NM_001349248:exon6:c.G529A:p.D177N,TRAK1:NM_001349249:exon6:c.G529A:p.D177N,TRAK1:NM_014965:exon6:c.G577A:p.D193N,TRAK1:NM_001042646:exon7:c.G751A:p.D251N,TRAK1:NM_001265608:exon7:c.G751A:p.D251N,TRAK1:NM_001349245:exon7:c.G439A:p.D147N,TRAK1:NM_001349246:exon7:c.G751A:p.D251N,TRAK1:NM_001349247:exon7:c.G751A:p.D251N",D,D,D,T,D,T
chr3,42678395,42678395,G,A,R007_S,NKTR,Missense_Mutation,NM_001349124,exon13,c.G1199A,p.R400K,SNP,SNVindel,exonic,NKTR,NA,nonsynonymous SNV,"NKTR:NM_001349124:exon13:c.G1199A:p.R400K,NKTR:NM_005385:exon13:c.G1199A:p.R400K,NKTR:NM_001349125:exon15:c.G440A:p.R147K,NKTR:NM_001349126:exon15:c.G95A:p.R32K",D,D,D,T,N,T
chr3,42680542,42680542,C,T,R007_S,NKTR,Missense_Mutation,NM_001349124,exon13,c.C3346T,p.P1116S,SNP,SNVindel,exonic,NKTR,NA,nonsynonymous SNV,"NKTR:NM_001349124:exon13:c.C3346T:p.P1116S,NKTR:NM_005385:exon13:c.C3346T:p.P1116S,NKTR:NM_001349125:exon15:c.C2587T:p.P863S,NKTR:NM_001349126:exon15:c.C2242T:p.P748S",D,N,N,T,N,T
chr3,42727539,42727539,C,T,R007_S,KLHL40,Silent,NM_152393,exon1,c.C429T,p.L143L,SNP,SNVindel,exonic,KLHL40,NA,synonymous SNV,KLHL40:NM_152393:exon1:c.C429T:p.L143L,NA,NA,NA,NA,NA,NA
chr3,42916263,42916263,C,T,R007_S,CYP8B1,Missense_Mutation,NM_004391,exon1,c.G1046A,p.R349Q,SNP,SNVindel,exonic,CYP8B1,NA,nonsynonymous SNV,CYP8B1:NM_004391:exon1:c.G1046A:p.R349Q,D,D,D,D,D,D
chr3,44362678,44362678,C,T,R007_S,TOPAZ1,Missense_Mutation,NM_001145030,exon17,c.C4466T,p.S1489F,SNP,SNVindel,exonic,TOPAZ1,NA,nonsynonymous SNV,TOPAZ1:NM_001145030:exon17:c.C4466T:p.S1489F,D,.,N,T,D,T
chr3,44612104,44612104,G,A,R007_S,ZKSCAN7,Missense_Mutation,NM_001288592,exon5,c.G1049A,p.G350E,SNP,SNVindel,exonic,ZKSCAN7,NA,nonsynonymous SNV,"ZKSCAN7:NM_001288592:exon5:c.G1049A:p.G350E,ZKSCAN7:NM_001288590:exon6:c.G1502A:p.G501E,ZKSCAN7:NM_018651:exon6:c.G1502A:p.G501E",T,N,D,T,D,T
chr3,45134931,45134931,G,A,R007_S,CDCP1,Missense_Mutation,NM_022842,exon6,c.C1465T,p.P489S,SNP,SNVindel,exonic,CDCP1,NA,nonsynonymous SNV,CDCP1:NM_022842:exon6:c.C1465T:p.P489S,T,N,N,T,N,T
chr3,45137041,45137041,G,A,R007_S,CDCP1,Silent,NM_022842,exon5,c.C1044T,p.D348D,SNP,SNVindel,exonic,CDCP1,NA,synonymous SNV,CDCP1:NM_022842:exon5:c.C1044T:p.D348D,NA,NA,NA,NA,NA,NA
chr3,45527221,45527221,C,T,R007_S,LARS2,Silent,NM_001368263,exon10,c.C1056T,p.T352T,SNP,SNVindel,exonic,LARS2,NA,synonymous SNV,"LARS2:NM_001368263:exon10:c.C1056T:p.T352T,LARS2:NM_015340:exon11:c.C1056T:p.T352T",NA,NA,NA,NA,NA,NA
chr3,45807232,45807232,G,A,R007_S,SLC6A20,Missense_Mutation,NM_022405,exon7,c.C989T,p.A330V,SNP,SNVindel,exonic,SLC6A20,NA,nonsynonymous SNV,"SLC6A20:NM_022405:exon7:c.C989T:p.A330V,SLC6A20:NM_020208:exon8:c.C1100T:p.A367V",D,D,D,T,D,T
chr3,46062821,46062821,C,T,R007_S,XCR1,Missense_Mutation,NM_001024644,exon2,c.G619A,p.E207K,SNP,SNVindel,exonic,XCR1,NA,nonsynonymous SNV,"XCR1:NM_001024644:exon2:c.G619A:p.E207K,XCR1:NM_005283:exon3:c.G619A:p.E207K",T,N,N,T,N,T
chr3,46401334,46401334,G,A,R007_S,CCR2,Missense_Mutation,NM_001123041,exon3,c.G1108A,p.D370N,SNP,SNVindel,exonic,CCR2,NA,nonsynonymous SNV,CCR2:NM_001123041:exon3:c.G1108A:p.D370N,T,.,N,T,N,T
chr3,46415401,46415401,C,T,R007_S,CCR5,Silent,NM_000579,exon3,c.C1008T,p.S336S,SNP,SNVindel,exonic,CCR5,NA,synonymous SNV,"CCR5:NM_000579:exon3:c.C1008T:p.S336S,CCR5:NM_001100168:exon3:c.C1008T:p.S336S",NA,NA,NA,NA,NA,NA
chr3,46501261,46501261,G,A,R007_S,LTF,Missense_Mutation,NM_001321121,exon2,c.C92T,p.S31F,SNP,SNVindel,exonic,LTF,NA,nonsynonymous SNV,"LTF:NM_001321121:exon2:c.C92T:p.S31F,LTF:NM_002343:exon2:c.C92T:p.S31F,LTF:NM_001321122:exon5:c.C53T:p.S18F",D,D,D,T,D,T
chr3,46754420,46754420,C,T,R007_S,PRSS50,Missense_Mutation,NM_013270,exon5,c.G892A,p.E298K,SNP,SNVindel,exonic,PRSS50,NA,nonsynonymous SNV,PRSS50:NM_013270:exon5:c.G892A:p.E298K,T,N,N,D,N,T
chr3,47030845,47030845,C,T,R007_S,NBEAL2,Silent,NM_001365116,exon5,c.C426T,p.Y142Y,SNP,SNVindel,exonic,NBEAL2,NA,synonymous SNV,"NBEAL2:NM_001365116:exon5:c.C426T:p.Y142Y,NBEAL2:NM_015175:exon5:c.C447T:p.Y149Y",NA,NA,NA,NA,NA,NA
chr3,47361182,47361182,G,A,R007_S,KLHL18,Missense_Mutation,NM_025010,exon2,c.G169A,p.A57T,SNP,SNVindel,exonic,KLHL18,NA,nonsynonymous SNV,KLHL18:NM_025010:exon2:c.G169A:p.A57T,D,N,D,T,D,D
chr3,47446150,47446150,C,T,R007_S,PTPN23,Silent,NM_015466,exon3,c.C168T,p.V56V,SNP,SNVindel,exonic,PTPN23,NA,synonymous SNV,PTPN23:NM_015466:exon3:c.C168T:p.V56V,NA,NA,NA,NA,NA,NA
chr3,47454088,47454088,C,T,R007_S,PTPN23,Missense_Mutation,NM_001304482,exon23,c.C4024T,p.P1342S,SNP,SNVindel,exonic,PTPN23,NA,nonsynonymous SNV,"PTPN23:NM_001304482:exon23:c.C4024T:p.P1342S,PTPN23:NM_015466:exon24:c.C4402T:p.P1468S",T,N,N,T,N,T
chr3,47458631,47458631,G,A,R007_S,SCAP,Silent,NM_001320044,exon15,c.C2269T,p.L757L,SNP,SNVindel,exonic,SCAP,NA,synonymous SNV,"SCAP:NM_001320044:exon15:c.C2269T:p.L757L,SCAP:NM_012235:exon18:c.C3037T:p.L1013L",NA,NA,NA,NA,NA,NA
chr3,47470086,47470086,G,A,R007_S,SCAP,Silent,NM_012235,exon4,c.C327T,p.L109L,SNP,SNVindel,exonic,SCAP,NA,synonymous SNV,SCAP:NM_012235:exon4:c.C327T:p.L109L,NA,NA,NA,NA,NA,NA
chr3,48463534,48463534,C,T,R007_S,PLXNB1,Silent,NM_001130082,exon6,c.G1500A,p.G500G,SNP,SNVindel,exonic,PLXNB1,NA,synonymous SNV,"PLXNB1:NM_001130082:exon6:c.G1500A:p.G500G,PLXNB1:NM_002673:exon6:c.G1500A:p.G500G",NA,NA,NA,NA,NA,NA
chr3,48618073,48618073,C,T,R007_S,COL7A1,Missense_Mutation,NM_000094,exon54,c.G4993A,p.V1665I,SNP,SNVindel,exonic,COL7A1,NA,nonsynonymous SNV,COL7A1:NM_000094:exon54:c.G4993A:p.V1665I,T,N,N,D,N,T
chr3,48637926,48637926,G,A,R007_S,UQCRC1,Missense_Mutation,NM_003365,exon10,c.C1202T,p.S401F,SNP,SNVindel,exonic,UQCRC1,NA,nonsynonymous SNV,UQCRC1:NM_003365:exon10:c.C1202T:p.S401F,T,D,D,T,N,T
chr3,49017805,49017805,G,A,R007_S,ARIH2,Missense_Mutation,NM_001317334,exon11,c.G707A,p.S236N,SNP,SNVindel,exonic,ARIH2,NA,nonsynonymous SNV,"ARIH2:NM_001317334:exon11:c.G707A:p.S236N,ARIH2:NM_001349211:exon12:c.G1133A:p.S378N,ARIH2:NM_001349212:exon12:c.G707A:p.S236N,ARIH2:NM_001349209:exon13:c.G1133A:p.S378N,ARIH2:NM_001349214:exon13:c.G1202A:p.S401N,ARIH2:NM_001349215:exon13:c.G1133A:p.S378N,ARIH2:NM_001349218:exon13:c.G917A:p.S306N,ARIH2:NM_001349221:exon13:c.G917A:p.S306N,ARIH2:NM_001349224:exon13:c.G881A:p.S294N,ARIH2:NM_001349226:exon13:c.G881A:p.S294N,ARIH2:NM_006321:exon13:c.G1133A:p.S378N,ARIH2:NM_001317333:exon14:c.G1133A:p.S378N,ARIH2:NM_001349213:exon14:c.G1202A:p.S401N,ARIH2:NM_001349216:exon14:c.G986A:p.S329N,ARIH2:NM_001349217:exon14:c.G917A:p.S306N,ARIH2:NM_001349219:exon14:c.G917A:p.S306N,ARIH2:NM_001349227:exon14:c.G653A:p.S218N,ARIH2:NM_001349210:exon15:c.G1133A:p.S378N,ARIH2:NM_001349220:exon15:c.G917A:p.S306N,ARIH2:NM_001349222:exon15:c.G881A:p.S294N,ARIH2:NM_001349223:exon15:c.G881A:p.S294N,ARIH2:NM_001349225:exon16:c.G881A:p.S294N",D,D,D,D,D,D
chr3,49055658,49055658,G,A,R007_S,DALRD3,Missense_Mutation,NM_001009996,exon2,c.C259T,p.L87F,SNP,SNVindel,exonic,DALRD3,NA,nonsynonymous SNV,"DALRD3:NM_001009996:exon2:c.C259T:p.L87F,DALRD3:NM_001276405:exon2:c.C259T:p.L87F",D,D,D,T,N,T
chr3,49059950,49059950,G,A,R007_S,NDUFAF3,Silent,NM_199069,exon2,c.G249A,p.P83P,SNP,SNVindel,exonic,NDUFAF3,NA,synonymous SNV,"NDUFAF3:NM_199069:exon2:c.G249A:p.P83P,NDUFAF3:NM_199070:exon2:c.G78A:p.P26P,NDUFAF3:NM_199073:exon2:c.G78A:p.P26P,NDUFAF3:NM_199074:exon2:c.G78A:p.P26P",NA,NA,NA,NA,NA,NA
chr3,49070620,49070620,C,T,R007_S,QRICH1,Missense_Mutation,NM_001320582,exon7,c.G1828A,p.E610K,SNP,SNVindel,exonic,QRICH1,NA,nonsynonymous SNV,"QRICH1:NM_001320582:exon7:c.G1828A:p.E610K,QRICH1:NM_001320583:exon7:c.G1828A:p.E610K,QRICH1:NM_001320584:exon7:c.G1828A:p.E610K,QRICH1:NM_001320585:exon7:c.G1828A:p.E610K,QRICH1:NM_198880:exon7:c.G1828A:p.E610K,QRICH1:NM_001320580:exon8:c.G1828A:p.E610K,QRICH1:NM_001320581:exon8:c.G1828A:p.E610K,QRICH1:NM_017730:exon8:c.G1828A:p.E610K",D,D,D,.,D,T
chr3,49570142,49570142,C,T,R007_S,DAG1,Missense_Mutation,NM_001177639,exon3,c.C2198T,p.P733L,SNP,SNVindel,exonic,DAG1,NA,nonsynonymous SNV,"DAG1:NM_001177639:exon3:c.C2198T:p.P733L,DAG1:NM_001177643:exon3:c.C2198T:p.P733L,DAG1:NM_001177644:exon3:c.C2198T:p.P733L,DAG1:NM_004393:exon3:c.C2198T:p.P733L,DAG1:NM_001177635:exon4:c.C2198T:p.P733L,DAG1:NM_001177637:exon4:c.C2198T:p.P733L,DAG1:NM_001177638:exon4:c.C2198T:p.P733L,DAG1:NM_001177640:exon4:c.C2198T:p.P733L,DAG1:NM_001177641:exon4:c.C2198T:p.P733L,DAG1:NM_001177642:exon4:c.C2198T:p.P733L,DAG1:NM_001177636:exon5:c.C2198T:p.P733L,DAG1:NM_001165928:exon6:c.C2198T:p.P733L,DAG1:NM_001177634:exon6:c.C2198T:p.P733L",D,N,D,T,D,T
chr3,49690601,49690601,G,A,R007_S,BSN,Silent,NM_003458,exon5,c.G3612A,p.Q1204Q,SNP,SNVindel,exonic,BSN,NA,synonymous SNV,BSN:NM_003458:exon5:c.G3612A:p.Q1204Q,NA,NA,NA,NA,NA,NA
chr3,49713912,49713912,G,A,R007_S,APEH,Silent,NM_001640,exon7,c.G708A,p.V236V,SNP,SNVindel,exonic,APEH,NA,synonymous SNV,APEH:NM_001640:exon7:c.G708A:p.V236V,NA,NA,NA,NA,NA,NA
chr3,49714231,49714231,C,T,R007_S,APEH,Silent,NM_001640,exon9,c.C858T,p.D286D,SNP,SNVindel,exonic,APEH,NA,synonymous SNV,APEH:NM_001640:exon9:c.C858T:p.D286D,NA,NA,NA,NA,NA,NA
chr3,49869387,49869387,C,T,R007_S,TRAIP,Silent,NM_005879,exon11,c.G999A,p.Q333Q,SNP,SNVindel,exonic,TRAIP,NA,synonymous SNV,TRAIP:NM_005879:exon11:c.G999A:p.Q333Q,NA,NA,NA,NA,NA,NA
chr3,50005916,50005916,C,T,R007_S,RBM6,Missense_Mutation,NM_005777,exon3,c.C1058T,p.S353F,SNP,SNVindel,exonic,RBM6,NA,nonsynonymous SNV,RBM6:NM_005777:exon3:c.C1058T:p.S353F,D,N,D,T,N,T
chr3,50106164,50106164,G,A,R007_S,RBM6,Silent,NM_001167582,exon14,c.G1419A,p.Q473Q,SNP,SNVindel,exonic,RBM6,NA,synonymous SNV,"RBM6:NM_001167582:exon14:c.G1419A:p.Q473Q,RBM6:NM_001349194:exon15:c.G1443A:p.Q481Q,RBM6:NM_001349190:exon16:c.G1419A:p.Q473Q,RBM6:NM_001349191:exon17:c.G1419A:p.Q473Q,RBM6:NM_005777:exon18:c.G2985A:p.Q995Q,RBM6:NM_001349193:exon19:c.G1419A:p.Q473Q,RBM6:NM_001349192:exon20:c.G1419A:p.Q473Q",NA,NA,NA,NA,NA,NA
chr3,50224098,50224098,C,T,R007_S,SEMA3F,Silent,NM_001318798,exon17,c.C1569T,p.A523A,SNP,SNVindel,exonic,SEMA3F,NA,synonymous SNV,"SEMA3F:NM_001318798:exon17:c.C1569T:p.A523A,SEMA3F:NM_001318800:exon17:c.C1773T:p.A591A,SEMA3F:NM_004186:exon18:c.C1866T:p.A622A",NA,NA,NA,NA,NA,NA
chr3,50273830,50273830,G,A,R007_S,GNAI2,Silent,NM_002070,exon1,c.G63A,p.K21K,SNP,SNVindel,exonic,GNAI2,NA,synonymous SNV,GNAI2:NM_002070:exon1:c.G63A:p.K21K,NA,NA,NA,NA,NA,NA
chr3,50327379,50327379,C,T,R007_S,IFRD2,Missense_Mutation,NM_006764,exon5,c.G719A,p.S240N,SNP,SNVindel,exonic,IFRD2,NA,nonsynonymous SNV,IFRD2:NM_006764:exon5:c.G719A:p.S240N,T,N,N,T,N,T
chr3,50379241,50379241,C,T,R007_S,ZMYND10,Missense_Mutation,NM_001308379,exon9,c.G1106A,p.R369K,SNP,SNVindel,exonic,ZMYND10,NA,nonsynonymous SNV,"ZMYND10:NM_001308379:exon9:c.G1106A:p.R369K,ZMYND10:NM_015896:exon10:c.G1121A:p.R374K",T,D,D,.,N,T
chr3,50404859,50404859,G,A,R007_S,CACNA2D2,Silent,NM_001005505,exon27,c.C2367T,p.N789N,SNP,SNVindel,exonic,CACNA2D2,NA,synonymous SNV,"CACNA2D2:NM_001005505:exon27:c.C2367T:p.N789N,CACNA2D2:NM_001291101:exon27:c.C2160T:p.N720N,CACNA2D2:NM_006030:exon27:c.C2367T:p.N789N,CACNA2D2:NM_001174051:exon28:c.C2388T:p.N796N",NA,NA,NA,NA,NA,NA
chr3,51457486,51457486,C,T,R007_S,DCAF1,Missense_Mutation,NM_001349171,exon12,c.G2533A,p.D845N,SNP,SNVindel,exonic,DCAF1,NA,nonsynonymous SNV,"DCAF1:NM_001349171:exon12:c.G2533A:p.D845N,DCAF1:NM_001171904:exon13:c.G2776A:p.D926N,DCAF1:NM_001349170:exon13:c.G2779A:p.D927N,DCAF1:NM_001349168:exon14:c.G2779A:p.D927N,DCAF1:NM_014703:exon14:c.G2779A:p.D927N,DCAF1:NM_001349169:exon15:c.G2779A:p.D927N",T,D,D,T,N,T
chr3,51673556,51673556,G,A,R007_S,RAD54L2,Missense_Mutation,NM_001322256,exon12,c.G1982A,p.G661E,SNP,SNVindel,exonic,RAD54L2,NA,nonsynonymous SNV,"RAD54L2:NM_001322256:exon12:c.G1982A:p.G661E,RAD54L2:NM_001322257:exon12:c.G755A:p.G252E,RAD54L2:NM_015106:exon13:c.G1982A:p.G661E,RAD54L2:NM_001322253:exon14:c.G1982A:p.G661E",T,D,D,D,N,D
chr3,51746887,51746887,G,A,R007_S,GRM2,Silent,NM_000839,exon3,c.G849A,p.Q283Q,SNP,SNVindel,exonic,GRM2,NA,synonymous SNV,GRM2:NM_000839:exon3:c.G849A:p.Q283Q,NA,NA,NA,NA,NA,NA
chr3,51982334,51982334,C,T,R007_S,PARP3,Silent,NM_001003931,exon11,c.C1461T,p.T487T,SNP,SNVindel,exonic,PARP3,NA,synonymous SNV,"PARP3:NM_001003931:exon11:c.C1461T:p.T487T,PARP3:NM_001370240:exon11:c.C1440T:p.T480T,PARP3:NM_005485:exon11:c.C1440T:p.T480T,PARP3:NM_001370239:exon12:c.C1440T:p.T480T",NA,NA,NA,NA,NA,NA
chr3,52256547,52256547,G,A,R007_S,TLR9,Silent,NM_017442,exon2,c.C1785T,p.L595L,SNP,SNVindel,exonic,TLR9,NA,synonymous SNV,TLR9:NM_017442:exon2:c.C1785T:p.L595L,NA,NA,NA,NA,NA,NA
chr3,52263098,52263098,G,A,R007_S,TWF2,Silent,NM_007284,exon9,c.C1002T,p.G334G,SNP,SNVindel,exonic,TWF2,NA,synonymous SNV,TWF2:NM_007284:exon9:c.C1002T:p.G334G,NA,NA,NA,NA,NA,NA
chr3,52383339,52383339,C,T,R007_S,DNAH1,Missense_Mutation,NM_015512,exon14,c.C2429T,p.T810I,SNP,SNVindel,exonic,DNAH1,NA,nonsynonymous SNV,DNAH1:NM_015512:exon14:c.C2429T:p.T810I,T,N,N,T,N,T
chr3,52514429,52514429,G,A,R007_S,NISCH,Missense_Mutation,NM_001276293,exon13,c.G1646A,p.G549E,SNP,SNVindel,exonic,NISCH,NA,nonsynonymous SNV,NISCH:NM_001276293:exon13:c.G1646A:p.G549E,D,.,N,T,N,T
chr3,52556796,52556796,C,T,R007_S,STAB1,Silent,NM_015136,exon62,c.C6750T,p.G2250G,SNP,SNVindel,exonic,STAB1,NA,synonymous SNV,STAB1:NM_015136:exon62:c.C6750T:p.G2250G,NA,NA,NA,NA,NA,NA
chr3,52726906,52726906,C,T,R007_S,GNL3,Silent,NM_014366,exon10,c.C888T,p.P296P,SNP,SNVindel,exonic,GNL3,NA,synonymous SNV,"GNL3:NM_014366:exon10:c.C888T:p.P296P,GNL3:NM_206825:exon10:c.C852T:p.P284P,GNL3:NM_206826:exon10:c.C852T:p.P284P",NA,NA,NA,NA,NA,NA
chr3,52786097,52786097,C,T,R007_S,NEK4,Missense_Mutation,NM_001193533,exon6,c.G952A,p.E318K,SNP,SNVindel,exonic,NEK4,NA,nonsynonymous SNV,"NEK4:NM_001193533:exon6:c.G952A:p.E318K,NEK4:NM_001348412:exon7:c.G1219A:p.E407K,NEK4:NM_001348413:exon7:c.G1219A:p.E407K,NEK4:NM_001348414:exon7:c.G973A:p.E325K,NEK4:NM_003157:exon7:c.G1219A:p.E407K",T,N,N,T,N,T
chr3,54952720,54952720,G,A,R007_S,LRTM1,Silent,NM_001304389,exon3,c.C576T,p.L192L,SNP,SNVindel,exonic,LRTM1,NA,synonymous SNV,"LRTM1:NM_001304389:exon3:c.C576T:p.L192L,LRTM1:NM_020678:exon3:c.C804T:p.L268L",NA,NA,NA,NA,NA,NA
chr3,55508564,55508564,C,A,R007_S,WNT5A,Missense_Mutation,NM_001256105,exon4,c.G440T,p.C147F,SNP,SNVindel,exonic,WNT5A,NA,nonsynonymous SNV,"WNT5A:NM_001256105:exon4:c.G440T:p.C147F,WNT5A:NM_003392:exon4:c.G485T:p.C162F",D,D,D,D,D,D
chr3,56696416,56696416,T,C,R007_S,TASOR,Missense_Mutation,NM_001112736,exon9,c.A1157G,p.K386R,SNP,SNVindel,exonic,TASOR,NA,nonsynonymous SNV,"TASOR:NM_001112736:exon9:c.A1157G:p.K386R,TASOR:NM_001363940:exon9:c.A1157G:p.K386R,TASOR:NM_001365635:exon9:c.A1157G:p.K386R,TASOR:NM_001365636:exon9:c.A1157G:p.K386R,TASOR:NM_001365637:exon9:c.A1157G:p.K386R,TASOR:NM_001365638:exon9:c.A1157G:p.K386R",T,.,D,T,N,T
chr3,57335923,57335923,G,A,R007_S,DNAH12,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,DNAH12,NA,unknown,UNKNOWN,D,D,D,T,D,T
chr3,57494871,57494871,G,A,R007_S,DNAH12,Missense_Mutation,NM_198564,exon6,c.C538T,p.P180S,SNP,SNVindel,exonic,DNAH12,NA,nonsynonymous SNV,DNAH12:NM_198564:exon6:c.C538T:p.P180S,T,D,D,T,D,T
chr3,57913055,57913055,C,T,R007_S,SLMAP,Silent,NM_001304423,exon8,c.C831T,p.A277A,SNP,SNVindel,exonic,SLMAP,NA,synonymous SNV,"SLMAP:NM_001304423:exon8:c.C831T:p.A277A,SLMAP:NM_001304422:exon10:c.C1029T:p.A343A,SLMAP:NM_001304421:exon20:c.C2313T:p.A771A,SLMAP:NM_007159:exon21:c.C2376T:p.A792A,SLMAP:NM_001304420:exon22:c.C2427T:p.A809A",NA,NA,NA,NA,NA,NA
chr3,58090873,58090873,C,T,R007_S,FLNB,Silent,NM_001164317,exon11,c.C1677T,p.L559L,SNP,SNVindel,exonic,FLNB,NA,synonymous SNV,"FLNB:NM_001164317:exon11:c.C1677T:p.L559L,FLNB:NM_001164318:exon11:c.C1677T:p.L559L,FLNB:NM_001164319:exon11:c.C1677T:p.L559L,FLNB:NM_001457:exon11:c.C1677T:p.L559L",NA,NA,NA,NA,NA,NA
chr3,58191210,58191210,G,A,R007_S,DNASE1L3,Missense_Mutation,NM_004944,exon3,c.C308T,p.A103V,SNP,SNVindel,exonic,DNASE1L3,NA,nonsynonymous SNV,DNASE1L3:NM_004944:exon3:c.C308T:p.A103V,T,N,D,T,N,T
chr3,58376874,58376874,G,A,R007_S,PXK,Missense_Mutation,NM_001289101,exon3,c.G56A,p.G19D,SNP,SNVindel,exonic,PXK,NA,nonsynonymous SNV,"PXK:NM_001289101:exon3:c.G56A:p.G19D,PXK:NM_001349525:exon3:c.G56A:p.G19D,PXK:NM_001349526:exon3:c.G56A:p.G19D,PXK:NM_001349532:exon3:c.G56A:p.G19D,PXK:NM_001349533:exon3:c.G56A:p.G19D,PXK:NM_001349534:exon3:c.G56A:p.G19D,PXK:NM_001349535:exon3:c.G56A:p.G19D,PXK:NM_001349536:exon3:c.G56A:p.G19D,PXK:NM_001349537:exon3:c.G56A:p.G19D,PXK:NM_001349538:exon3:c.G56A:p.G19D,PXK:NM_001349539:exon3:c.G56A:p.G19D,PXK:NM_001349540:exon3:c.G56A:p.G19D,PXK:NM_001289096:exon4:c.G368A:p.G123D,PXK:NM_001289100:exon4:c.G368A:p.G123D,PXK:NM_001349490:exon4:c.G368A:p.G123D,PXK:NM_001349500:exon4:c.G368A:p.G123D,PXK:NM_001349522:exon4:c.G368A:p.G123D,PXK:NM_001349524:exon4:c.G368A:p.G123D,PXK:NM_001289095:exon5:c.G416A:p.G139D,PXK:NM_001349491:exon5:c.G56A:p.G19D,PXK:NM_001349494:exon5:c.G419A:p.G140D,PXK:NM_001349495:exon5:c.G419A:p.G140D,PXK:NM_001349496:exon5:c.G416A:p.G139D,PXK:NM_001349497:exon5:c.G416A:p.G139D,PXK:NM_001349501:exon5:c.G419A:p.G140D,PXK:NM_001349502:exon5:c.G416A:p.G139D,PXK:NM_001349510:exon5:c.G419A:p.G140D,PXK:NM_001349511:exon5:c.G419A:p.G140D,PXK:NM_001349512:exon5:c.G419A:p.G140D,PXK:NM_001349514:exon5:c.G416A:p.G139D,PXK:NM_001349515:exon5:c.G416A:p.G139D,PXK:NM_001349516:exon5:c.G419A:p.G140D,PXK:NM_001349517:exon5:c.G416A:p.G139D,PXK:NM_001349518:exon5:c.G416A:p.G139D,PXK:NM_001289098:exon6:c.G467A:p.G156D,PXK:NM_001289099:exon6:c.G218A:p.G73D,PXK:NM_001349488:exon6:c.G467A:p.G156D,PXK:NM_001349492:exon6:c.G467A:p.G156D,PXK:NM_001349493:exon6:c.G467A:p.G156D,PXK:NM_001349498:exon6:c.G407A:p.G136D,PXK:NM_001349499:exon6:c.G467A:p.G156D,PXK:NM_001349503:exon6:c.G467A:p.G156D,PXK:NM_001349504:exon6:c.G467A:p.G156D,PXK:NM_001349506:exon6:c.G467A:p.G156D,PXK:NM_001349507:exon6:c.G467A:p.G156D,PXK:NM_001349508:exon6:c.G467A:p.G156D,PXK:NM_001349509:exon6:c.G467A:p.G156D,PXK:NM_001349519:exon6:c.G467A:p.G156D,PXK:NM_001349520:exon6:c.G467A:p.G156D,PXK:NM_001349527:exon6:c.G467A:p.G156D,PXK:NM_017771:exon6:c.G467A:p.G156D,PXK:NM_001349489:exon7:c.G218A:p.G73D,PXK:NM_001349513:exon7:c.G218A:p.G73D,PXK:NM_001349521:exon7:c.G218A:p.G73D,PXK:NM_001349528:exon7:c.G218A:p.G73D,PXK:NM_001349529:exon7:c.G218A:p.G73D,PXK:NM_001349530:exon7:c.G218A:p.G73D,PXK:NM_001349531:exon7:c.G218A:p.G73D",D,D,D,T,D,D
chr3,58415918,58415918,G,A,R007_S,PDHB,Missense_Mutation,NM_001315536,exon6,c.C583T,p.P195S,SNP,SNVindel,exonic,PDHB,NA,nonsynonymous SNV,"PDHB:NM_001315536:exon6:c.C583T:p.P195S,PDHB:NM_000925:exon7:c.C637T:p.P213S,PDHB:NM_001173468:exon8:c.C583T:p.P195S",T,N,D,D,N,T
chr3,63981500,63981500,T,C,R007_S,ATXN7,Missense_Mutation,NM_001128149,exon8,c.T1567C,p.S523P,SNP,SNVindel,exonic,ATXN7,NA,nonsynonymous SNV,"ATXN7:NM_001128149:exon8:c.T1567C:p.S523P,ATXN7:NM_001177387:exon11:c.T2002C:p.S668P,ATXN7:NM_000333:exon12:c.T2002C:p.S668P",D,N,N,T,N,T
chr3,64132618,64132618,C,T,R007_S,PRICKLE2,Silent,NM_001370528,exon7,c.G1548A,p.Q516Q,SNP,SNVindel,exonic,PRICKLE2,NA,synonymous SNV,"PRICKLE2:NM_001370528:exon7:c.G1548A:p.Q516Q,PRICKLE2:NM_198859:exon7:c.G1548A:p.Q516Q",NA,NA,NA,NA,NA,NA
chr3,65342062,65342062,G,A,R007_S,MAGI1,Silent,NM_001033057,exon23,c.C4380T,p.L1460L,SNP,SNVindel,exonic,MAGI1,NA,synonymous SNV,MAGI1:NM_001033057:exon23:c.C4380T:p.L1460L,NA,NA,NA,NA,NA,NA
chr3,67054241,67054241,G,A,R007_S,KBTBD8,Missense_Mutation,NM_032505,exon3,c.G850A,p.A284T,SNP,SNVindel,exonic,KBTBD8,NA,nonsynonymous SNV,KBTBD8:NM_032505:exon3:c.G850A:p.A284T,T,D,D,T,N,T
chr3,71161692,71161692,G,A,R007_S,FOXP1,Missense_Mutation,NM_001244814,exon3,c.C277T,p.L93F,SNP,SNVindel,exonic,FOXP1,NA,nonsynonymous SNV,"FOXP1:NM_001244814:exon3:c.C277T:p.L93F,FOXP1:NM_001244812:exon4:c.C277T:p.L93F,FOXP1:NM_001244816:exon6:c.C277T:p.L93F,FOXP1:NM_001349340:exon6:c.C277T:p.L93F,FOXP1:NM_001244808:exon7:c.C277T:p.L93F,FOXP1:NM_001244810:exon7:c.C277T:p.L93F,FOXP1:NM_001349338:exon7:c.C277T:p.L93F,FOXP1:NM_001349341:exon7:c.C277T:p.L93F,FOXP1:NM_032682:exon7:c.C277T:p.L93F",D,N,D,T,N,D
chr3,71804094,71804094,G,A,R007_S,GPR27,Silent,NM_018971,exon1,c.G894A,p.G298G,SNP,SNVindel,exonic,GPR27,NA,synonymous SNV,GPR27:NM_018971:exon1:c.G894A:p.G298G,NA,NA,NA,NA,NA,NA
chr3,77611863,77611863,G,A,R007_S,ROBO2,Missense_Mutation,NM_002942,exon10,c.G1499A,p.S500N,SNP,SNVindel,exonic,ROBO2,NA,nonsynonymous SNV,"ROBO2:NM_002942:exon10:c.G1499A:p.S500N,ROBO2:NM_001290039:exon11:c.G1511A:p.S504N,ROBO2:NM_001290040:exon11:c.G1511A:p.S504N",T,D,.,T,N,T
chr3,78683137,78683137,G,A,R007_S,ROBO1,Silent,NM_001145845,exon22,c.C3129T,p.D1043D,SNP,SNVindel,exonic,ROBO1,NA,synonymous SNV,"ROBO1:NM_001145845:exon22:c.C3129T:p.D1043D,ROBO1:NM_133631:exon22:c.C3294T:p.D1098D,ROBO1:NM_002941:exon24:c.C3429T:p.D1143D",NA,NA,NA,NA,NA,NA
chr3,89259606,89259606,G,A,R007_S,EPHA3,Nonsense_Mutation,NM_005233,exon3,c.G750A,p.W250X,SNP,SNVindel,exonic,EPHA3,NA,stopgain,"EPHA3:NM_005233:exon3:c.G750A:p.W250X,EPHA3:NM_182644:exon3:c.G750A:p.W250X",.,D,A,.,.,.
chr3,96706704,96706704,G,A,R007_S,EPHA6,Silent,NM_001080448,exon3,c.G981A,p.R327R,SNP,SNVindel,exonic,EPHA6,NA,synonymous SNV,"EPHA6:NM_001080448:exon3:c.G981A:p.R327R,EPHA6:NM_001278301:exon3:c.G981A:p.R327R",NA,NA,NA,NA,NA,NA
chr3,97593889,97593889,G,A,R007_S,CRYBG3,Missense_Mutation,NM_153605,exon4,c.G3851A,p.G1284D,SNP,SNVindel,exonic,CRYBG3,NA,nonsynonymous SNV,CRYBG3:NM_153605:exon4:c.G3851A:p.G1284D,.,.,.,.,.,T
chr3,98002213,98002213,C,T,R007_S,OR5H2,Missense_Mutation,NM_001005482,exon1,c.C482T,p.A161V,SNP,SNVindel,exonic,OR5H2,NA,nonsynonymous SNV,OR5H2:NM_001005482:exon1:c.C482T:p.A161V,D,N,N,T,D,T
chr3,99567279,99567279,C,T,R007_S,FILIP1L,Missense_Mutation,NM_001282794,exon2,c.G2521A,p.A841T,SNP,SNVindel,exonic,FILIP1L,NA,nonsynonymous SNV,"FILIP1L:NM_001282794:exon2:c.G2521A:p.A841T,FILIP1L:NM_014890:exon2:c.G2521A:p.A841T,FILIP1L:NM_001282793:exon3:c.G1969A:p.A657T,FILIP1L:NM_001370247:exon3:c.G2521A:p.A841T,FILIP1L:NM_001042459:exon5:c.G3241A:p.A1081T,FILIP1L:NM_182909:exon5:c.G3241A:p.A1081T",T,N,D,T,N,T
chr3,99567869,99567869,G,A,R007_S,FILIP1L,Missense_Mutation,NM_001282794,exon2,c.C1931T,p.A644V,SNP,SNVindel,exonic,FILIP1L,NA,nonsynonymous SNV,"FILIP1L:NM_001282794:exon2:c.C1931T:p.A644V,FILIP1L:NM_014890:exon2:c.C1931T:p.A644V,FILIP1L:NM_001282793:exon3:c.C1379T:p.A460V,FILIP1L:NM_001370247:exon3:c.C1931T:p.A644V,FILIP1L:NM_001042459:exon5:c.C2651T:p.A884V,FILIP1L:NM_182909:exon5:c.C2651T:p.A884V",T,N,D,T,N,T
chr3,99648769,99648769,G,C,R007_S,FILIP1L,Silent,NM_001042459,exon3,c.C357G,p.L119L,SNP,SNVindel,exonic,FILIP1L,NA,synonymous SNV,"FILIP1L:NM_001042459:exon3:c.C357G:p.L119L,FILIP1L:NM_182909:exon3:c.C357G:p.L119L",NA,NA,NA,NA,NA,NA
chr3,100964719,100964719,G,A,R007_S,IMPG2,Silent,NM_016247,exon12,c.C1470T,p.T490T,SNP,SNVindel,exonic,IMPG2,NA,synonymous SNV,IMPG2:NM_016247:exon12:c.C1470T:p.T490T,NA,NA,NA,NA,NA,NA
chr3,101283738,101283738,G,A,R007_S,TRMT10C,Missense_Mutation,NM_017819,exon2,c.G113A,p.R38K,SNP,SNVindel,exonic,TRMT10C,NA,nonsynonymous SNV,TRMT10C:NM_017819:exon2:c.G113A:p.R38K,T,N,N,T,N,T
chr3,101573998,101573998,G,A,R007_S,NFKBIZ,Nonsense_Mutation,NM_031419,exon7,c.G1536A,p.W512X,SNP,SNVindel,exonic,NFKBIZ,NA,stopgain,"NFKBIZ:NM_031419:exon7:c.G1536A:p.W512X,NFKBIZ:NM_001005474:exon8:c.G1236A:p.W412X",.,D,A,.,.,.
chr3,105377832,105377832,G,A,R007_S,CBLB,Silent,NM_001321816,exon16,c.C1872T,p.S624S,SNP,SNVindel,exonic,CBLB,NA,synonymous SNV,"CBLB:NM_001321816:exon16:c.C1872T:p.S624S,CBLB:NM_001321797:exon17:c.C2652T:p.S884S,CBLB:NM_001321798:exon17:c.C2652T:p.S884S,CBLB:NM_001321799:exon17:c.C2652T:p.S884S,CBLB:NM_001321811:exon17:c.C2004T:p.S668S,CBLB:NM_001321789:exon18:c.C2868T:p.S956S,CBLB:NM_001321790:exon18:c.C2865T:p.S955S,CBLB:NM_001321791:exon18:c.C2799T:p.S933S,CBLB:NM_001321793:exon18:c.C2799T:p.S933S,CBLB:NM_001321794:exon18:c.C2784T:p.S928S,CBLB:NM_001321795:exon18:c.C2784T:p.S928S,CBLB:NM_001321796:exon18:c.C2784T:p.S928S,CBLB:NM_001321806:exon18:c.C2151T:p.S717S,CBLB:NM_001321786:exon19:c.C3015T:p.S1005S,CBLB:NM_001321788:exon19:c.C2931T:p.S977S,CBLB:NM_001321808:exon19:c.C2019T:p.S673S,CBLB:NM_001321813:exon19:c.C2004T:p.S668S,CBLB:NM_170662:exon19:c.C2931T:p.S977S,CBLB:NM_001321807:exon20:c.C2151T:p.S717S,CBLB:NM_001321820:exon20:c.C1611T:p.S537S,CBLB:NM_001321822:exon20:c.C1602T:p.S534S",NA,NA,NA,NA,NA,NA
chr3,105438954,105438954,G,A,R007_S,CBLB,Silent,NM_001321796,exon9,c.C1197T,p.D399D,SNP,SNVindel,exonic,CBLB,NA,synonymous SNV,"CBLB:NM_001321796:exon9:c.C1197T:p.D399D,CBLB:NM_001321799:exon9:c.C1197T:p.D399D,CBLB:NM_001321806:exon9:c.C564T:p.D188D,CBLB:NM_001321811:exon9:c.C564T:p.D188D,CBLB:NM_001321816:exon9:c.C564T:p.D188D,CBLB:NM_001321786:exon10:c.C1428T:p.D476D,CBLB:NM_001321788:exon10:c.C1344T:p.D448D,CBLB:NM_001321789:exon10:c.C1428T:p.D476D,CBLB:NM_001321790:exon10:c.C1410T:p.D470D,CBLB:NM_001321791:exon10:c.C1344T:p.D448D,CBLB:NM_001321793:exon10:c.C1344T:p.D448D,CBLB:NM_001321794:exon10:c.C1344T:p.D448D,CBLB:NM_001321795:exon10:c.C1344T:p.D448D,CBLB:NM_001321797:exon10:c.C1344T:p.D448D,CBLB:NM_001321798:exon10:c.C1344T:p.D448D,CBLB:NM_170662:exon10:c.C1344T:p.D448D,CBLB:NM_001321807:exon11:c.C564T:p.D188D,CBLB:NM_001321808:exon11:c.C564T:p.D188D,CBLB:NM_001321813:exon11:c.C564T:p.D188D,CBLB:NM_001321822:exon11:c.C15T:p.D5D,CBLB:NM_001321820:exon12:c.C156T:p.D52D",NA,NA,NA,NA,NA,NA
chr3,108147479,108147479,G,A,R007_S,MYH15,Missense_Mutation,NM_014981,exon28,c.C3622T,p.H1208Y,SNP,SNVindel,exonic,MYH15,NA,nonsynonymous SNV,MYH15:NM_014981:exon28:c.C3622T:p.H1208Y,D,.,D,T,D,D
chr3,108147676,108147676,G,A,R007_S,MYH15,Missense_Mutation,NM_014981,exon28,c.C3425T,p.A1142V,SNP,SNVindel,exonic,MYH15,NA,nonsynonymous SNV,MYH15:NM_014981:exon28:c.C3425T:p.A1142V,D,.,D,T,D,D
chr3,108380977,108380977,G,A,R007_S,DZIP3,Missense_Mutation,NM_014648,exon21,c.G2296A,p.D766N,SNP,SNVindel,exonic,DZIP3,NA,nonsynonymous SNV,DZIP3:NM_014648:exon21:c.G2296A:p.D766N,T,N,D,T,N,T
chr3,109023485,109023485,G,A,R007_S,DPPA2,Missense_Mutation,NM_138815,exon7,c.C691T,p.L231F,SNP,SNVindel,exonic,DPPA2,NA,nonsynonymous SNV,DPPA2:NM_138815:exon7:c.C691T:p.L231F,T,N,N,T,D,T
chr3,111782399,111782399,C,T,R007_S,TMPRSS7,Missense_Mutation,NM_001042575,exon10,c.C1097T,p.S366F,SNP,SNVindel,exonic,TMPRSS7,NA,nonsynonymous SNV,"TMPRSS7:NM_001042575:exon10:c.C1097T:p.S366F,TMPRSS7:NM_001366279:exon10:c.C1064T:p.S355F",D,N,D,D,D,D
chr3,112255404,112255404,G,A,R007_S,ATG3,Nonsense_Mutation,NM_001278712,exon10,c.C712T,p.Q238X,SNP,SNVindel,exonic,ATG3,NA,stopgain,"ATG3:NM_001278712:exon10:c.C712T:p.Q238X,ATG3:NM_022488:exon10:c.C712T:p.Q238X",.,D,A,.,.,.
chr3,112337881,112337881,C,T,R007_S,CCDC80,Silent,NM_199511,exon4,c.G2106A,p.R702R,SNP,SNVindel,exonic,CCDC80,NA,synonymous SNV,"CCDC80:NM_199511:exon4:c.G2106A:p.R702R,CCDC80:NM_199512:exon4:c.G2106A:p.R702R",NA,NA,NA,NA,NA,NA
chr3,113334971,113334971,C,T,R007_S,SIDT1,Missense_Mutation,NM_001322296,exon19,c.C1820T,p.A607V,SNP,SNVindel,exonic,SIDT1,NA,nonsynonymous SNV,"SIDT1:NM_001322296:exon19:c.C1820T:p.A607V,SIDT1:NM_001322295:exon20:c.C1922T:p.A641V,SIDT1:NM_001322297:exon20:c.C1553T:p.A518V,SIDT1:NM_001322298:exon20:c.C1463T:p.A488V,SIDT1:NM_001322299:exon20:c.C1250T:p.A417V,SIDT1:NM_001322300:exon20:c.C725T:p.A242V,SIDT1:NM_017699:exon20:c.C1991T:p.A664V,SIDT1:NM_001308350:exon21:c.C2006T:p.A669V,SIDT1:NM_001322294:exon21:c.C2009T:p.A670V",T,D,N,T,N,T
chr3,113344970,113344970,G,A,R007_S,SIDT1,Missense_Mutation,NM_001322296,exon23,c.G2158A,p.E720K,SNP,SNVindel,exonic,SIDT1,NA,nonsynonymous SNV,"SIDT1:NM_001322296:exon23:c.G2158A:p.E720K,SIDT1:NM_001322295:exon24:c.G2260A:p.E754K,SIDT1:NM_001322297:exon24:c.G1891A:p.E631K,SIDT1:NM_001322298:exon24:c.G1801A:p.E601K,SIDT1:NM_001322299:exon24:c.G1588A:p.E530K,SIDT1:NM_001322300:exon24:c.G1063A:p.E355K,SIDT1:NM_017699:exon24:c.G2329A:p.E777K,SIDT1:NM_001308350:exon25:c.G2344A:p.E782K,SIDT1:NM_001322294:exon25:c.G2347A:p.E783K",T,D,D,T,N,T
chr3,113379716,113379716,C,T,R007_S,USF3,Silent,NM_001009899,exon7,c.G813A,p.L271L,SNP,SNVindel,exonic,USF3,NA,synonymous SNV,USF3:NM_001009899:exon7:c.G813A:p.L271L,NA,NA,NA,NA,NA,NA
chr3,113672993,113672993,G,A,R007_S,ZDHHC23,Missense_Mutation,NM_001320466,exon3,c.G608A,p.R203K,SNP,SNVindel,exonic,ZDHHC23,NA,nonsynonymous SNV,"ZDHHC23:NM_001320466:exon3:c.G608A:p.R203K,ZDHHC23:NM_001320467:exon3:c.G608A:p.R203K,ZDHHC23:NM_001320468:exon3:c.G608A:p.R203K,ZDHHC23:NM_001363952:exon3:c.G608A:p.R203K,ZDHHC23:NM_173570:exon3:c.G608A:p.R203K",T,N,N,T,N,T
chr3,113697765,113697765,G,A,R007_S,CCDC191,Silent,NM_001353767,exon13,c.C2334T,p.A778A,SNP,SNVindel,exonic,CCDC191,NA,synonymous SNV,"CCDC191:NM_001353767:exon13:c.C2334T:p.A778A,CCDC191:NM_001353766:exon14:c.C2361T:p.A787A,CCDC191:NM_020817:exon15:c.C2400T:p.A800A",NA,NA,NA,NA,NA,NA
chr3,113847666,113847666,G,A,R007_S,DRD3,Missense_Mutation,NM_000796,exon7,c.C1100T,p.A367V,SNP,SNVindel,exonic,DRD3,NA,nonsynonymous SNV,"DRD3:NM_000796:exon7:c.C1100T:p.A367V,DRD3:NM_001282563:exon8:c.C1100T:p.A367V,DRD3:NM_001290809:exon8:c.C1100T:p.A367V,DRD3:NM_033663:exon8:c.C1001T:p.A334V",T,D,D,T,N,T
chr3,114014404,114014404,G,A,R007_S,TIGIT,Missense_Mutation,NM_173799,exon2,c.G74A,p.G25D,SNP,SNVindel,exonic,TIGIT,NA,nonsynonymous SNV,TIGIT:NM_173799:exon2:c.G74A:p.G25D,D,N,N,T,D,T
chr3,114026849,114026849,G,A,R007_S,TIGIT,Silent,NM_173799,exon4,c.G606A,p.Q202Q,SNP,SNVindel,exonic,TIGIT,NA,synonymous SNV,TIGIT:NM_173799:exon4:c.G606A:p.Q202Q,NA,NA,NA,NA,NA,NA
chr3,114069664,114069664,G,A,R007_S,ZBTB20,Missense_Mutation,NM_001164342,exon4,c.C1261T,p.P421S,SNP,SNVindel,exonic,ZBTB20,NA,nonsynonymous SNV,"ZBTB20:NM_001164342:exon4:c.C1261T:p.P421S,ZBTB20:NM_001164346:exon5:c.C1042T:p.P348S,ZBTB20:NM_001164347:exon5:c.C1042T:p.P348S,ZBTB20:NM_001164345:exon6:c.C1042T:p.P348S,ZBTB20:NM_001164344:exon7:c.C1042T:p.P348S,ZBTB20:NM_001348804:exon9:c.C1042T:p.P348S,ZBTB20:NM_015642:exon9:c.C1042T:p.P348S,ZBTB20:NM_001348802:exon10:c.C1042T:p.P348S,ZBTB20:NM_001348805:exon10:c.C1042T:p.P348S,ZBTB20:NM_001164343:exon11:c.C1042T:p.P348S,ZBTB20:NM_001348800:exon11:c.C1261T:p.P421S,ZBTB20:NM_001348801:exon11:c.C1042T:p.P348S,ZBTB20:NM_001348803:exon13:c.C1261T:p.P421S",D,N,N,T,N,T
chr3,115382659,115382659,G,A,R007_S,GAP43,Missense_Mutation,NM_001130064,exon2,c.G34A,p.A12T,SNP,SNVindel,exonic,GAP43,NA,nonsynonymous SNV,GAP43:NM_001130064:exon2:c.G34A:p.A12T,D,.,N,T,N,T
chr3,118647522,118647522,G,A,R007_S,IGSF11,Silent,NM_001015887,exon3,c.C258T,p.P86P,SNP,SNVindel,exonic,IGSF11,NA,synonymous SNV,"IGSF11:NM_001015887:exon3:c.C258T:p.P86P,IGSF11:NM_001353321:exon3:c.C258T:p.P86P,IGSF11:NM_001353323:exon3:c.C258T:p.P86P,IGSF11:NM_001353324:exon3:c.C258T:p.P86P,IGSF11:NM_001353318:exon4:c.C408T:p.P136P,IGSF11:NM_001353319:exon4:c.C408T:p.P136P,IGSF11:NM_001353320:exon4:c.C255T:p.P85P,IGSF11:NM_001353325:exon4:c.C81T:p.P27P,IGSF11:NM_001353326:exon4:c.C81T:p.P27P,IGSF11:NM_001353322:exon5:c.C255T:p.P85P,IGSF11:NM_152538:exon5:c.C255T:p.P85P",NA,NA,NA,NA,NA,NA
chr3,119256115,119256115,G,A,R007_S,CD80,Missense_Mutation,NM_005191,exon4,c.C569T,p.S190F,SNP,SNVindel,exonic,CD80,NA,nonsynonymous SNV,CD80:NM_005191:exon4:c.C569T:p.S190F,D,N,D,T,D,T
chr3,119306595,119306595,G,A,R007_S,ADPRH,Missense_Mutation,NM_001291950,exon3,c.G623A,p.G208E,SNP,SNVindel,exonic,ADPRH,NA,nonsynonymous SNV,"ADPRH:NM_001291950:exon3:c.G623A:p.G208E,ADPRH:NM_001291949:exon4:c.G944A:p.G315E,ADPRH:NM_001125:exon5:c.G944A:p.G315E,ADPRH:NM_001371092:exon5:c.G944A:p.G315E",D,D,D,T,D,D
chr3,119905583,119905583,C,T,R007_S,GPR156,Missense_Mutation,NM_001168271,exon5,c.G522A,p.M174I,SNP,SNVindel,exonic,GPR156,NA,nonsynonymous SNV,"GPR156:NM_001168271:exon5:c.G522A:p.M174I,GPR156:NM_153002:exon5:c.G522A:p.M174I",T,N,N,D,N,T
chr3,121251953,121251953,G,A,R007_S,POLQ,Missense_Mutation,NM_199420,exon6,c.C844T,p.L282F,SNP,SNVindel,exonic,POLQ,NA,nonsynonymous SNV,POLQ:NM_199420:exon6:c.C844T:p.L282F,D,N,D,T,D,T
chr3,121258433,121258433,G,A,R007_S,POLQ,Silent,NM_199420,exon4,c.C478T,p.L160L,SNP,SNVindel,exonic,POLQ,NA,synonymous SNV,POLQ:NM_199420:exon4:c.C478T:p.L160L,NA,NA,NA,NA,NA,NA
chr3,121340784,121340784,G,A,R007_S,FBXO40,Missense_Mutation,NM_016298,exon3,c.G508A,p.G170R,SNP,SNVindel,exonic,FBXO40,NA,nonsynonymous SNV,FBXO40:NM_016298:exon3:c.G508A:p.G170R,T,N,N,T,N,T
chr3,121356069,121356069,C,T,R007_S,HCLS1,Silent,NM_005335,exon7,c.G489A,p.V163V,SNP,SNVindel,exonic,HCLS1,NA,synonymous SNV,HCLS1:NM_005335:exon7:c.G489A:p.V163V,NA,NA,NA,NA,NA,NA
chr3,121416689,121416689,A,G,R007_S,GOLGB1,Missense_Mutation,NM_001256488,exon12,c.T2441C,p.V814A,SNP,SNVindel,exonic,GOLGB1,NA,nonsynonymous SNV,"GOLGB1:NM_001256488:exon12:c.T2441C:p.V814A,GOLGB1:NM_001366283:exon12:c.T2558C:p.V853A,GOLGB1:NM_001366284:exon12:c.T2441C:p.V814A,GOLGB1:NM_001256486:exon13:c.T2681C:p.V894A,GOLGB1:NM_001256487:exon13:c.T2564C:p.V855A,GOLGB1:NM_001366282:exon13:c.T2681C:p.V894A,GOLGB1:NM_004487:exon13:c.T2666C:p.V889A",D,N,D,T,N,T
chr3,121575961,121575961,G,A,R007_S,EAF2,Missense_Mutation,NM_001320041,exon3,c.G52A,p.D18N,SNP,SNVindel,exonic,EAF2,NA,nonsynonymous SNV,"EAF2:NM_001320041:exon3:c.G52A:p.D18N,EAF2:NM_018456:exon4:c.G442A:p.D148N",D,D,D,.,N,T
chr3,121713116,121713116,G,A,R007_S,ILDR1,Missense_Mutation,NM_001199800,exon4,c.C424T,p.P142S,SNP,SNVindel,exonic,ILDR1,NA,nonsynonymous SNV,"ILDR1:NM_001199800:exon4:c.C424T:p.P142S,ILDR1:NM_001199799:exon6:c.C691T:p.P231S",D,N,D,T,D,T
chr3,122283404,122283404,G,A,R007_S,DTX3L,Missense_Mutation,NM_138287,exon1,c.G131A,p.S44N,SNP,SNVindel,exonic,DTX3L,NA,nonsynonymous SNV,DTX3L:NM_138287:exon1:c.G131A:p.S44N,T,N,N,T,N,T
chr3,122329386,122329386,G,A,R007_S,PARP15,Missense_Mutation,NM_001113523,exon3,c.G352A,p.G118R,SNP,SNVindel,exonic,PARP15,NA,nonsynonymous SNV,"PARP15:NM_001113523:exon3:c.G352A:p.G118R,PARP15:NM_001308320:exon3:c.G352A:p.G118R",T,.,N,T,N,T
chr3,123444830,123444830,G,A,R007_S,MYLK,Missense_Mutation,NM_001321309,exon11,c.C1084T,p.R362W,SNP,SNVindel,exonic,MYLK,NA,nonsynonymous SNV,"MYLK:NM_001321309:exon11:c.C1084T:p.R362W,MYLK:NM_053026:exon11:c.C1405T:p.R469W,MYLK:NM_053028:exon11:c.C1405T:p.R469W,MYLK:NM_053025:exon12:c.C1612T:p.R538W,MYLK:NM_053027:exon12:c.C1612T:p.R538W",D,.,N,T,N,T
chr3,123987881,123987881,G,A,R007_S,KALRN,Missense_Mutation,NM_001024660,exon5,c.G742A,p.E248K,SNP,SNVindel,exonic,KALRN,NA,nonsynonymous SNV,"KALRN:NM_001024660:exon5:c.G742A:p.E248K,KALRN:NM_001322988:exon5:c.G742A:p.E248K,KALRN:NM_001322989:exon5:c.G742A:p.E248K,KALRN:NM_001322990:exon5:c.G742A:p.E248K,KALRN:NM_001322991:exon5:c.G742A:p.E248K,KALRN:NM_001322992:exon5:c.G742A:p.E248K,KALRN:NM_003947:exon5:c.G742A:p.E248K",D,D,D,T,N,T
chr3,124397155,124397155,G,A,R007_S,KALRN,Missense_Mutation,NM_001322993,exon17,c.G2218A,p.V740I,SNP,SNVindel,exonic,KALRN,NA,nonsynonymous SNV,"KALRN:NM_001322993:exon17:c.G2218A:p.V740I,KALRN:NM_007064:exon17:c.G2221A:p.V741I,KALRN:NM_001024660:exon50:c.G7312A:p.V2438I",T,N,D,T,N,T
chr3,124748162,124748162,G,A,R007_S,HEG1,Missense_Mutation,NM_020733,exon2,c.C487T,p.L163F,SNP,SNVindel,exonic,HEG1,NA,nonsynonymous SNV,HEG1:NM_020733:exon2:c.C487T:p.L163F,T,.,N,T,N,T
chr3,124826370,124826370,G,A,R007_S,SLC12A8,Nonsense_Mutation,NM_001195483,exon9,c.C1660T,p.Q554X,SNP,SNVindel,exonic,SLC12A8,NA,stopgain,"SLC12A8:NM_001195483:exon9:c.C1660T:p.Q554X,SLC12A8:NM_024628:exon10:c.C1660T:p.Q554X",.,.,A,.,.,.
chr3,125787042,125787042,C,T,R007_S,SLC41A3,Silent,NM_001008485,exon2,c.G21A,p.R7R,SNP,SNVindel,exonic,SLC41A3,NA,synonymous SNV,"SLC41A3:NM_001008485:exon2:c.G21A:p.R7R,SLC41A3:NM_001008486:exon2:c.G21A:p.R7R,SLC41A3:NM_017836:exon2:c.G21A:p.R7R",NA,NA,NA,NA,NA,NA
chr3,126208136,126208136,C,T,R007_S,UROC1,Missense_Mutation,NM_144639,exon17,c.G1691A,p.G564D,SNP,SNVindel,exonic,UROC1,NA,nonsynonymous SNV,"UROC1:NM_144639:exon17:c.G1691A:p.G564D,UROC1:NM_001165974:exon18:c.G1871A:p.G624D",D,D,D,T,D,D
chr3,126571540,126571540,C,T,R007_S,CHCHD6,Silent,NM_001320610,exon5,c.C465T,p.F155F,SNP,SNVindel,exonic,CHCHD6,NA,synonymous SNV,"CHCHD6:NM_001320610:exon5:c.C465T:p.F155F,CHCHD6:NM_032343:exon5:c.C462T:p.F154F",NA,NA,NA,NA,NA,NA
chr3,127292457,127292457,C,T,R007_S,TPRA1,Missense_Mutation,NM_001142646,exon9,c.G865A,p.G289S,SNP,SNVindel,exonic,TPRA1,NA,nonsynonymous SNV,"TPRA1:NM_001142646:exon9:c.G865A:p.G289S,TPRA1:NM_001353006:exon11:c.G1039A:p.G347S",D,U,D,.,N,T
chr3,127294821,127294821,G,A,R007_S,TPRA1,Missense_Mutation,NM_001136053,exon7,c.C571T,p.R191C,SNP,SNVindel,exonic,TPRA1,NA,nonsynonymous SNV,"TPRA1:NM_001136053:exon7:c.C571T:p.R191C,TPRA1:NM_001142646:exon7:c.C571T:p.R191C,TPRA1:NM_001353001:exon8:c.C571T:p.R191C,TPRA1:NM_001353002:exon8:c.C571T:p.R191C,TPRA1:NM_001353003:exon8:c.C571T:p.R191C,TPRA1:NM_001353005:exon8:c.C571T:p.R191C,TPRA1:NM_001353004:exon9:c.C571T:p.R191C",T,D,D,.,N,T
chr3,127778951,127778951,G,A,R007_S,SEC61A1,Missense_Mutation,NM_013336,exon6,c.G359A,p.G120D,SNP,SNVindel,exonic,SEC61A1,NA,nonsynonymous SNV,SEC61A1:NM_013336:exon6:c.G359A:p.G120D,D,D,D,.,D,D
chr3,127983497,127983497,C,T,R007_S,EEFSEC,Missense_Mutation,NM_021937,exon4,c.C659T,p.P220L,SNP,SNVindel,exonic,EEFSEC,NA,nonsynonymous SNV,EEFSEC:NM_021937:exon4:c.C659T:p.P220L,T,D,D,T,N,T
chr3,128654149,128654149,C,T,R007_S,KIAA1257,Missense_Mutation,NM_001348520,exon10,c.G1399A,p.E467K,SNP,SNVindel,exonic,KIAA1257,NA,nonsynonymous SNV,"KIAA1257:NM_001348520:exon10:c.G1399A:p.E467K,KIAA1257:NM_001348521:exon11:c.G1303A:p.E435K",D,N,N,.,D,T
chr3,128664572,128664572,C,T,R007_S,KIAA1257,Missense_Mutation,NM_001348520,exon9,c.G727A,p.D243N,SNP,SNVindel,exonic,KIAA1257,NA,nonsynonymous SNV,"KIAA1257:NM_001348520:exon9:c.G727A:p.D243N,KIAA1257:NM_001348521:exon10:c.G631A:p.D211N",T,N,N,.,D,T
chr3,128976426,128976426,G,A,R007_S,COPG1,Missense_Mutation,NM_016128,exon9,c.G693A,p.M231I,SNP,SNVindel,exonic,COPG1,NA,nonsynonymous SNV,COPG1:NM_016128:exon9:c.G693A:p.M231I,D,D,D,T,N,T
chr3,129231229,129231229,G,A,R007_S,IFT122,Silent,NM_052990,exon21,c.G2631A,p.K877K,SNP,SNVindel,exonic,IFT122,NA,synonymous SNV,"IFT122:NM_052990:exon21:c.G2631A:p.K877K,IFT122:NM_001280546:exon22:c.G2334A:p.K778K,IFT122:NM_018262:exon23:c.G2784A:p.K928K,IFT122:NM_001280541:exon24:c.G2940A:p.K980K,IFT122:NM_052989:exon24:c.G2961A:p.K987K,IFT122:NM_001280545:exon25:c.G2511A:p.K837K,IFT122:NM_052985:exon25:c.G3114A:p.K1038K",NA,NA,NA,NA,NA,NA
chr3,129324767,129324767,G,A,R007_S,PLXND1,Missense_Mutation,NM_015103,exon1,c.C716T,p.A239V,SNP,SNVindel,exonic,PLXND1,NA,nonsynonymous SNV,PLXND1:NM_015103:exon1:c.C716T:p.A239V,D,U,D,T,N,T
chr3,129370391,129370391,G,A,R007_S,TMCC1,Missense_Mutation,NM_001349272,exon4,c.C1376T,p.A459V,SNP,SNVindel,exonic,TMCC1,NA,nonsynonymous SNV,"TMCC1:NM_001349272:exon4:c.C1376T:p.A459V,TMCC1:NM_001349273:exon4:c.C1358T:p.A453V,TMCC1:NM_001349274:exon4:c.C1346T:p.A449V,TMCC1:NM_015008:exon4:c.C923T:p.A308V,TMCC1:NM_001349271:exon5:c.C1523T:p.A508V,TMCC1:NM_001128224:exon6:c.C1553T:p.A518V,TMCC1:NM_001349268:exon6:c.C1895T:p.A632V,TMCC1:NM_001349275:exon6:c.C1325T:p.A442V,TMCC1:NM_001349276:exon6:c.C1325T:p.A442V,TMCC1:NM_001017395:exon7:c.C1895T:p.A632V,TMCC1:NM_001349264:exon7:c.C1895T:p.A632V,TMCC1:NM_001349265:exon7:c.C1895T:p.A632V,TMCC1:NM_001349270:exon7:c.C1553T:p.A518V,TMCC1:NM_001349263:exon8:c.C1895T:p.A632V,TMCC1:NM_001349266:exon8:c.C1895T:p.A632V,TMCC1:NM_001349269:exon8:c.C1553T:p.A518V",T,D,D,T,N,T
chr3,130400397,130400397,C,T,R007_S,PIK3R4,Missense_Mutation,NM_014602,exon17,c.G3646A,p.E1216K,SNP,SNVindel,exonic,PIK3R4,NA,nonsynonymous SNV,PIK3R4:NM_014602:exon17:c.G3646A:p.E1216K,D,D,D,T,D,T
chr3,132193889,132193889,G,A,R007_S,DNAJC13,Missense_Mutation,NM_015268,exon22,c.G2405A,p.G802E,SNP,SNVindel,exonic,DNAJC13,NA,nonsynonymous SNV,"DNAJC13:NM_015268:exon22:c.G2405A:p.G802E,DNAJC13:NM_001329126:exon23:c.G2420A:p.G807E",T,D,D,T,N,T
chr3,132219753,132219753,G,A,R007_S,DNAJC13,Missense_Mutation,NM_015268,exon39,c.G4532A,p.G1511D,SNP,SNVindel,exonic,DNAJC13,NA,nonsynonymous SNV,"DNAJC13:NM_015268:exon39:c.G4532A:p.G1511D,DNAJC13:NM_001329126:exon40:c.G4547A:p.G1516D",T,D,D,T,N,T
chr3,132242444,132242444,G,A,R007_S,DNAJC13,Missense_Mutation,NM_015268,exon51,c.G5947A,p.V1983I,SNP,SNVindel,exonic,DNAJC13,NA,nonsynonymous SNV,"DNAJC13:NM_015268:exon51:c.G5947A:p.V1983I,DNAJC13:NM_001329126:exon52:c.G5962A:p.V1988I",T,D,D,T,N,T
chr3,132387758,132387758,G,A,R007_S,UBA5,Missense_Mutation,NM_001321238,exon2,c.G124A,p.E42K,SNP,SNVindel,exonic,UBA5,NA,nonsynonymous SNV,"UBA5:NM_001321238:exon2:c.G124A:p.E42K,UBA5:NM_001321239:exon2:c.G58A:p.E20K,UBA5:NM_001320210:exon4:c.G226A:p.E76K,UBA5:NM_024818:exon4:c.G394A:p.E132K,UBA5:NM_198329:exon4:c.G226A:p.E76K",T,D,D,T,N,T
chr3,132390952,132390952,G,A,R007_S,UBA5,Missense_Mutation,NM_001321238,exon6,c.G473A,p.G158D,SNP,SNVindel,exonic,UBA5,NA,nonsynonymous SNV,"UBA5:NM_001321238:exon6:c.G473A:p.G158D,UBA5:NM_001321239:exon6:c.G407A:p.G136D,UBA5:NM_001320210:exon8:c.G575A:p.G192D,UBA5:NM_024818:exon8:c.G743A:p.G248D,UBA5:NM_198329:exon8:c.G575A:p.G192D",D,D,D,T,D,T
chr3,133099608,133099608,G,A,R007_S,TMEM108,Silent,NM_001136469,exon4,c.G1053A,p.G351G,SNP,SNVindel,exonic,TMEM108,NA,synonymous SNV,"TMEM108:NM_001136469:exon4:c.G1053A:p.G351G,TMEM108:NM_023943:exon4:c.G1053A:p.G351G",NA,NA,NA,NA,NA,NA
chr3,133496037,133496037,G,A,R007_S,TF,Missense_Mutation,NM_001354704,exon15,c.G1636A,p.E546K,SNP,SNVindel,exonic,TF,NA,nonsynonymous SNV,"TF:NM_001354704:exon15:c.G1636A:p.E546K,TF:NM_001063:exon16:c.G2017A:p.E673K,TF:NM_001354703:exon22:c.G1885A:p.E629K",T,N,N,T,N,T
chr3,134670461,134670461,G,A,R007_S,EPHB1,Silent,NM_004441,exon3,c.G372A,p.K124K,SNP,SNVindel,exonic,EPHB1,NA,synonymous SNV,EPHB1:NM_004441:exon3:c.G372A:p.K124K,NA,NA,NA,NA,NA,NA
chr3,135870803,135870803,G,A,R007_S,MSL2,Missense_Mutation,NM_001145417,exon2,c.C698T,p.S233F,SNP,SNVindel,exonic,MSL2,NA,nonsynonymous SNV,"MSL2:NM_001145417:exon2:c.C698T:p.S233F,MSL2:NM_018133:exon2:c.C920T:p.S307F",D,N,D,.,N,T
chr3,135871471,135871471,G,A,R007_S,MSL2,Silent,NM_001145417,exon2,c.C30T,p.C10C,SNP,SNVindel,exonic,MSL2,NA,synonymous SNV,"MSL2:NM_001145417:exon2:c.C30T:p.C10C,MSL2:NM_018133:exon2:c.C252T:p.C84C",NA,NA,NA,NA,NA,NA
chr3,137843537,137843537,G,A,R007_S,A4GNT,Missense_Mutation,NM_016161,exon3,c.C592T,p.L198F,SNP,SNVindel,exonic,A4GNT,NA,nonsynonymous SNV,A4GNT:NM_016161:exon3:c.C592T:p.L198F,T,N,N,T,N,T
chr3,137993319,137993319,G,A,R007_S,ARMC8,Missense_Mutation,NM_001282342,exon16,c.G1439A,p.G480E,SNP,SNVindel,exonic,ARMC8,NA,nonsynonymous SNV,"ARMC8:NM_001282342:exon16:c.G1439A:p.G480E,ARMC8:NM_001267041:exon17:c.G1565A:p.G522E,ARMC8:NM_001267042:exon17:c.G1457A:p.G486E,ARMC8:NM_001363941:exon18:c.G1658A:p.G553E,ARMC8:NM_001363942:exon18:c.G1532A:p.G511E,ARMC8:NM_015396:exon19:c.G1616A:p.G539E",D,D,D,T,D,T
chr3,138433523,138433523,G,A,R007_S,PIK3CB,Silent,NM_006219,exon9,c.C1089T,p.L363L,SNP,SNVindel,exonic,PIK3CB,NA,synonymous SNV,PIK3CB:NM_006219:exon9:c.C1089T:p.L363L,NA,NA,NA,NA,NA,NA
chr3,138738973,138738973,C,T,R007_S,PRR23B,Silent,NM_001013650,exon1,c.G531A,p.G177G,SNP,SNVindel,exonic,PRR23B,NA,synonymous SNV,PRR23B:NM_001013650:exon1:c.G531A:p.G177G,NA,NA,NA,NA,NA,NA
chr3,139079969,139079969,C,T,R007_S,COPB2,Missense_Mutation,NM_004766,exon17,c.G2164A,p.D722N,SNP,SNVindel,exonic,COPB2,NA,nonsynonymous SNV,COPB2:NM_004766:exon17:c.G2164A:p.D722N,T,D,D,T,N,T
chr3,142739507,142739507,G,A,R007_S,U2SURP,Silent,NM_001080415,exon8,c.G705A,p.Q235Q,SNP,SNVindel,exonic,U2SURP,NA,synonymous SNV,"U2SURP:NM_001080415:exon8:c.G705A:p.Q235Q,U2SURP:NM_001320219:exon8:c.G705A:p.Q235Q",NA,NA,NA,NA,NA,NA
chr3,145878747,145878747,C,T,R007_S,PLOD2,Silent,NM_000935,exon1,c.G30A,p.L10L,SNP,SNVindel,exonic,PLOD2,NA,synonymous SNV,"PLOD2:NM_000935:exon1:c.G30A:p.L10L,PLOD2:NM_182943:exon1:c.G30A:p.L10L",NA,NA,NA,NA,NA,NA
chr3,147128202,147128202,G,A,R007_S,ZIC1,Silent,NM_003412,exon1,c.G303A,p.L101L,SNP,SNVindel,exonic,ZIC1,NA,synonymous SNV,ZIC1:NM_003412:exon1:c.G303A:p.L101L,NA,NA,NA,NA,NA,NA
chr3,149485456,149485456,G,A,R007_S,ANKUB1,Silent,NM_001144960,exon5,c.C993T,p.S331S,SNP,SNVindel,exonic,ANKUB1,NA,synonymous SNV,"ANKUB1:NM_001144960:exon5:c.C993T:p.S331S,ANKUB1:NM_001315505:exon5:c.C555T:p.S185S,ANKUB1:NM_001315506:exon5:c.C993T:p.S331S",NA,NA,NA,NA,NA,NA
chr3,150127733,150127733,G,A,R007_S,TSC22D2,Missense_Mutation,NM_001303264,exon1,c.G596A,p.G199E,SNP,SNVindel,exonic,TSC22D2,NA,nonsynonymous SNV,"TSC22D2:NM_001303264:exon1:c.G596A:p.G199E,TSC22D2:NM_014779:exon1:c.G596A:p.G199E",T,D,D,T,D,T
chr3,150903242,150903242,G,A,R007_S,MED12L,Silent,NM_053002,exon11,c.G1620A,p.E540E,SNP,SNVindel,exonic,MED12L,NA,synonymous SNV,MED12L:NM_053002:exon11:c.G1620A:p.E540E,NA,NA,NA,NA,NA,NA
chr3,151160783,151160783,G,A,R007_S,IGSF10,Silent,NM_178822,exon5,c.C5952T,p.D1984D,SNP,SNVindel,exonic,IGSF10,NA,synonymous SNV,IGSF10:NM_178822:exon5:c.C5952T:p.D1984D,NA,NA,NA,NA,NA,NA
chr3,151162737,151162737,G,A,R007_S,IGSF10,Missense_Mutation,NM_178822,exon4,c.C5032T,p.P1678S,SNP,SNVindel,exonic,IGSF10,NA,nonsynonymous SNV,IGSF10:NM_178822:exon4:c.C5032T:p.P1678S,D,D,D,T,D,D
chr3,151162763,151162763,G,A,R007_S,IGSF10,Missense_Mutation,NM_178822,exon4,c.C5006T,p.P1669L,SNP,SNVindel,exonic,IGSF10,NA,nonsynonymous SNV,IGSF10:NM_178822:exon4:c.C5006T:p.P1669L,D,D,D,T,D,T
chr3,152018057,152018057,G,A,R007_S,MBNL1,Silent,NM_207293,exon1,c.G75A,p.G25G,SNP,SNVindel,exonic,MBNL1,NA,synonymous SNV,"MBNL1:NM_207293:exon1:c.G75A:p.G25G,MBNL1:NM_207294:exon1:c.G75A:p.G25G,MBNL1:NM_207295:exon1:c.G75A:p.G25G,MBNL1:NM_207296:exon1:c.G75A:p.G25G,MBNL1:NM_207297:exon1:c.G75A:p.G25G,MBNL1:NM_001363870:exon2:c.G75A:p.G25G,MBNL1:NM_021038:exon2:c.G75A:p.G25G,MBNL1:NM_207292:exon2:c.G75A:p.G25G",NA,NA,NA,NA,NA,NA
chr3,152163188,152163188,G,A,R007_S,MBNL1,Missense_Mutation,NM_207294,exon3,c.G463A,p.D155N,SNP,SNVindel,exonic,MBNL1,NA,nonsynonymous SNV,"MBNL1:NM_207294:exon3:c.G463A:p.D155N,MBNL1:NM_207295:exon3:c.G463A:p.D155N,MBNL1:NM_207293:exon4:c.G667A:p.D223N,MBNL1:NM_207296:exon4:c.G667A:p.D223N,MBNL1:NM_207297:exon4:c.G667A:p.D223N,MBNL1:NM_001363870:exon5:c.G667A:p.D223N,MBNL1:NM_021038:exon5:c.G667A:p.D223N,MBNL1:NM_207292:exon5:c.G667A:p.D223N,MBNL1:NM_001314057:exon6:c.G496A:p.D166N",D,D,D,T,D,D
chr3,156763231,156763231,C,T,R007_S,LEKR1,Missense_Mutation,NM_001004316,exon13,c.C1771T,p.L591F,SNP,SNVindel,exonic,LEKR1,NA,nonsynonymous SNV,LEKR1:NM_001004316:exon13:c.C1771T:p.L591F,D,N,N,T,N,T
chr3,157820536,157820536,G,A,R007_S,SHOX2,Silent,NM_001163678,exon2,c.C486T,p.T162T,SNP,SNVindel,exonic,SHOX2,NA,synonymous SNV,"SHOX2:NM_001163678:exon2:c.C486T:p.T162T,SHOX2:NM_006884:exon2:c.C486T:p.T162T,SHOX2:NM_003030:exon3:c.C558T:p.T186T",NA,NA,NA,NA,NA,NA
chr3,158311171,158311171,G,A,R007_S,MLF1,Missense_Mutation,NM_001369783,exon3,c.G196A,p.A66T,SNP,SNVindel,exonic,MLF1,NA,nonsynonymous SNV,"MLF1:NM_001369783:exon3:c.G196A:p.A66T,MLF1:NM_001369785:exon3:c.G121A:p.A41T,MLF1:NM_001195432:exon4:c.G244A:p.A82T,MLF1:NM_001195434:exon4:c.G121A:p.A41T",T,D,D,T,N,T
chr3,158541227,158541227,G,A,R007_S,MFSD1,Missense_Mutation,NM_001167903,exon11,c.G971A,p.G324E,SNP,SNVindel,exonic,MFSD1,NA,nonsynonymous SNV,"MFSD1:NM_001167903:exon11:c.G971A:p.G324E,MFSD1:NM_001289406:exon11:c.G797A:p.G266E,MFSD1:NM_001289407:exon12:c.G869A:p.G290E,MFSD1:NM_022736:exon12:c.G1088A:p.G363E",D,D,D,T,D,D
chr3,164735352,164735352,G,A,R007_S,SI,Missense_Mutation,NM_001041,exon31,c.C3743T,p.A1248V,SNP,SNVindel,exonic,SI,NA,nonsynonymous SNV,SI:NM_001041:exon31:c.C3743T:p.A1248V,D,N,N,D,D,D
chr3,169511615,169511615,G,A,R007_S,LRRC34,Silent,NM_153353,exon10,c.C1107T,p.D369D,SNP,SNVindel,exonic,LRRC34,NA,synonymous SNV,"LRRC34:NM_153353:exon10:c.C1107T:p.D369D,LRRC34:NM_001172779:exon11:c.C1203T:p.D401D,LRRC34:NM_001363888:exon11:c.C1020T:p.D340D,LRRC34:NM_001370608:exon11:c.C1017T:p.D339D",D,.,D,T,N,T
chr3,169644732,169644732,G,A,R007_S,SAMD7,Missense_Mutation,NM_001304366,exon6,c.G682A,p.D228N,SNP,SNVindel,exonic,SAMD7,NA,nonsynonymous SNV,"SAMD7:NM_001304366:exon6:c.G682A:p.D228N,SAMD7:NM_182610:exon6:c.G682A:p.D228N",T,N,N,T,N,T
chr3,170723847,170723847,G,A,R007_S,SLC2A2,Silent,NM_001278658,exon5,c.C303T,p.I101I,SNP,SNVindel,exonic,SLC2A2,NA,synonymous SNV,"SLC2A2:NM_001278658:exon5:c.C303T:p.I101I,SLC2A2:NM_001278659:exon5:c.C141T:p.I47I,SLC2A2:NM_000340:exon6:c.C660T:p.I220I",NA,NA,NA,NA,NA,NA
chr3,171379935,171379935,G,A,R007_S,PLD1,Missense_Mutation,NM_001130081,exon19,c.C2141T,p.S714F,SNP,SNVindel,exonic,PLD1,NA,nonsynonymous SNV,"PLD1:NM_001130081:exon19:c.C2141T:p.S714F,PLD1:NM_002662:exon20:c.C2255T:p.S752F",D,D,D,T,D,T
chr3,172165914,172165914,G,A,R007_S,GHSR,Missense_Mutation,NM_004122,exon1,c.C290T,p.P97L,SNP,SNVindel,exonic,GHSR,NA,nonsynonymous SNV,"GHSR:NM_004122:exon1:c.C290T:p.P97L,GHSR:NM_198407:exon1:c.C290T:p.P97L",D,D,D,T,D,D
chr3,179132759,179132759,C,T,R007_S,GNB4,Missense_Mutation,NM_021629,exon6,c.G344A,p.G115E,SNP,SNVindel,exonic,GNB4,NA,nonsynonymous SNV,GNB4:NM_021629:exon6:c.G344A:p.G115E,D,D,D,T,D,D
chr3,179439351,179439351,C,T,R007_S,USP13,Silent,NM_003940,exon8,c.C1062T,p.I354I,SNP,SNVindel,exonic,USP13,NA,synonymous SNV,USP13:NM_003940:exon8:c.C1062T:p.I354I,NA,NA,NA,NA,NA,NA
chr3,179615986,179615986,C,T,R007_S,PEX5L,Missense_Mutation,NM_001256751,exon2,c.G70A,p.E24K,SNP,SNVindel,exonic,PEX5L,NA,nonsynonymous SNV,"PEX5L:NM_001256751:exon2:c.G70A:p.E24K,PEX5L:NM_001349398:exon2:c.G70A:p.E24K,PEX5L:NM_001256750:exon3:c.G136A:p.E46K,PEX5L:NM_001256754:exon3:c.G13A:p.E5K,PEX5L:NM_001256755:exon3:c.G13A:p.E5K,PEX5L:NM_001349388:exon3:c.G214A:p.E72K,PEX5L:NM_001349395:exon3:c.G13A:p.E5K,PEX5L:NM_001349396:exon3:c.G136A:p.E46K,PEX5L:NM_016559:exon3:c.G142A:p.E48K,PEX5L:NM_001349386:exon4:c.G307A:p.E103K,PEX5L:NM_001349387:exon4:c.G214A:p.E72K,PEX5L:NM_001349389:exon4:c.G208A:p.E70K,PEX5L:NM_001349391:exon4:c.G307A:p.E103K,PEX5L:NM_001349394:exon4:c.G214A:p.E72K",D,D,D,D,N,D
chr3,180685971,180685971,G,A,R007_S,FXR1,Missense_Mutation,NM_001013438,exon14,c.G1331A,p.G444E,SNP,SNVindel,exonic,FXR1,NA,nonsynonymous SNV,"FXR1:NM_001013438:exon14:c.G1331A:p.G444E,FXR1:NM_005087:exon14:c.G1331A:p.G444E,FXR1:NM_001013439:exon15:c.G1076A:p.G359E,FXR1:NM_001363882:exon15:c.G1076A:p.G359E",D,D,D,T,D,T
chr3,182584144,182584144,G,A,R007_S,ATP11B,Missense_Mutation,NM_014616,exon14,c.G1532A,p.G511D,SNP,SNVindel,exonic,ATP11B,NA,nonsynonymous SNV,ATP11B:NM_014616:exon14:c.G1532A:p.G511D,D,N,D,T,N,T
chr3,183226259,183226259,G,A,R007_S,KLHL6,Missense_Mutation,NM_130446,exon3,c.C497T,p.T166I,SNP,SNVindel,exonic,KLHL6,NA,nonsynonymous SNV,KLHL6:NM_130446:exon3:c.C497T:p.T166I,T,D,D,T,N,T
chr3,183700655,183700655,G,A,R007_S,ABCC5,Silent,NM_005688,exon6,c.C732T,p.Y244Y,SNP,SNVindel,exonic,ABCC5,NA,synonymous SNV,ABCC5:NM_005688:exon6:c.C732T:p.Y244Y,NA,NA,NA,NA,NA,NA
chr3,183777279,183777279,G,A,R007_S,HTR3C,Missense_Mutation,NM_130770,exon7,c.G776A,p.S259N,SNP,SNVindel,exonic,HTR3C,NA,nonsynonymous SNV,HTR3C:NM_130770:exon7:c.G776A:p.S259N,T,N,N,D,N,T
chr3,183952092,183952092,C,T,R007_S,VWA5B2,Missense_Mutation,NM_001320373,exon3,c.C70T,p.P24S,SNP,SNVindel,exonic,VWA5B2,NA,nonsynonymous SNV,"VWA5B2:NM_001320373:exon3:c.C70T:p.P24S,VWA5B2:NM_138345:exon5:c.C727T:p.P243S",T,.,D,T,N,T
chr3,183960421,183960421,G,A,R007_S,ALG3,Missense_Mutation,NM_001006941,exon9,c.C1054T,p.P352S,SNP,SNVindel,exonic,ALG3,NA,nonsynonymous SNV,"ALG3:NM_001006941:exon9:c.C1054T:p.P352S,ALG3:NM_005787:exon9:c.C1198T:p.P400S",D,U,D,D,D,D
chr3,184041017,184041017,G,A,R007_S,EIF4G1,Silent,NM_004953,exon7,c.G1488A,p.L496L,SNP,SNVindel,exonic,EIF4G1,NA,synonymous SNV,"EIF4G1:NM_004953:exon7:c.G1488A:p.L496L,EIF4G1:NM_198242:exon10:c.G1584A:p.L528L,EIF4G1:NM_198244:exon11:c.G1815A:p.L605L,EIF4G1:NM_182917:exon13:c.G2076A:p.L692L,EIF4G1:NM_001194947:exon14:c.G2097A:p.L699L,EIF4G1:NM_001291157:exon14:c.G1956A:p.L652L,EIF4G1:NM_198241:exon14:c.G2076A:p.L692L,EIF4G1:NM_001194946:exon15:c.G2097A:p.L699L",NA,NA,NA,NA,NA,NA
chr3,184049071,184049071,G,A,R007_S,EIF4G1,Silent,NM_004953,exon22,c.G3594A,p.G1198G,SNP,SNVindel,exonic,EIF4G1,NA,synonymous SNV,"EIF4G1:NM_004953:exon22:c.G3594A:p.G1198G,EIF4G1:NM_198242:exon25:c.G3687A:p.G1229G,EIF4G1:NM_198244:exon26:c.G3918A:p.G1306G,EIF4G1:NM_182917:exon28:c.G4182A:p.G1394G,EIF4G1:NM_001194947:exon29:c.G4200A:p.G1400G,EIF4G1:NM_001291157:exon29:c.G4059A:p.G1353G,EIF4G1:NM_198241:exon29:c.G4179A:p.G1393G,EIF4G1:NM_001194946:exon30:c.G4200A:p.G1400G",NA,NA,NA,NA,NA,NA
chr3,184059524,184059524,G,A,R007_S,FAM131A,Missense_Mutation,NM_144635,exon3,c.G244A,p.D82N,SNP,SNVindel,exonic,FAM131A,NA,nonsynonymous SNV,FAM131A:NM_144635:exon3:c.G244A:p.D82N,D,.,D,T,D,T
chr3,184059868,184059868,G,A,R007_S,FAM131A,Missense_Mutation,NM_001366133,exon3,c.G85A,p.V29M,SNP,SNVindel,exonic,FAM131A,NA,nonsynonymous SNV,"FAM131A:NM_001366133:exon3:c.G85A:p.V29M,FAM131A:NM_001171093:exon4:c.G85A:p.V29M,FAM131A:NM_144635:exon4:c.G340A:p.V114M,FAM131A:NM_001366134:exon5:c.G85A:p.V29M",T,D,D,T,N,T
chr3,184091337,184091337,C,T,R007_S,THPO,Missense_Mutation,NM_000460,exon5,c.G262A,p.V88M,SNP,SNVindel,exonic,THPO,NA,nonsynonymous SNV,"THPO:NM_000460:exon5:c.G262A:p.V88M,THPO:NM_001177597:exon5:c.G262A:p.V88M,THPO:NM_001177598:exon5:c.G262A:p.V88M,THPO:NM_001289997:exon5:c.G262A:p.V88M,THPO:NM_001290028:exon5:c.G262A:p.V88M,THPO:NM_001289998:exon6:c.G262A:p.V88M,THPO:NM_001290003:exon6:c.G682A:p.V228M,THPO:NM_001290022:exon6:c.G262A:p.V88M,THPO:NM_001290026:exon6:c.G262A:p.V88M,THPO:NM_001290027:exon6:c.G262A:p.V88M",D,N,N,T,N,T
chr3,184633194,184633194,G,A,R007_S,VPS8,Missense_Mutation,NM_001349296,exon26,c.G2275A,p.E759K,SNP,SNVindel,exonic,VPS8,NA,nonsynonymous SNV,"VPS8:NM_001349296:exon26:c.G2275A:p.E759K,VPS8:NM_001009921:exon27:c.G2314A:p.E772K,VPS8:NM_001349293:exon27:c.G2314A:p.E772K,VPS8:NM_001349294:exon27:c.G2314A:p.E772K,VPS8:NM_001349295:exon27:c.G2314A:p.E772K,VPS8:NM_001349297:exon27:c.G595A:p.E199K,VPS8:NM_015303:exon27:c.G2308A:p.E770K,VPS8:NM_001349292:exon28:c.G2314A:p.E772K,VPS8:NM_001349298:exon28:c.G514A:p.E172K",T,D,D,T,N,T
chr3,186459593,186459593,G,A,R007_S,KNG1,Missense_Mutation,NM_001102416,exon10,c.G1408A,p.G470S,SNP,SNVindel,exonic,KNG1,NA,nonsynonymous SNV,KNG1:NM_001102416:exon10:c.G1408A:p.G470S,D,N,D,T,N,T
chr3,186518968,186518968,C,T,R007_S,RFC4,Missense_Mutation,NM_002916,exon3,c.G148A,p.D50N,SNP,SNVindel,exonic,RFC4,NA,nonsynonymous SNV,"RFC4:NM_002916:exon3:c.G148A:p.D50N,RFC4:NM_181573:exon3:c.G148A:p.D50N",T,D,D,T,D,T
chr3,186953594,186953594,G,A,R007_S,MASP1,Missense_Mutation,NM_139125,exon11,c.C2065T,p.P689S,SNP,SNVindel,exonic,MASP1,NA,nonsynonymous SNV,MASP1:NM_139125:exon11:c.C2065T:p.P689S,D,D,D,D,N,D
chr3,189526126,189526126,C,T,R007_S,TP63,Silent,NM_001114980,exon2,c.C108T,p.S36S,SNP,SNVindel,exonic,TP63,NA,synonymous SNV,"TP63:NM_001114980:exon2:c.C108T:p.S36S,TP63:NM_001114981:exon2:c.C108T:p.S36S,TP63:NM_001114982:exon2:c.C108T:p.S36S,TP63:NM_001329145:exon2:c.C108T:p.S36S,TP63:NM_001329149:exon2:c.C108T:p.S36S,TP63:NM_001114978:exon4:c.C390T:p.S130S,TP63:NM_001114979:exon4:c.C390T:p.S130S,TP63:NM_001329144:exon4:c.C390T:p.S130S,TP63:NM_001329148:exon4:c.C390T:p.S130S,TP63:NM_001329964:exon4:c.C384T:p.S128S,TP63:NM_003722:exon4:c.C390T:p.S130S",NA,NA,NA,NA,NA,NA
chr3,193002852,193002852,C,T,R007_S,ATP13A5,Missense_Mutation,NM_198505,exon27,c.G3077A,p.R1026K,SNP,SNVindel,exonic,ATP13A5,NA,nonsynonymous SNV,ATP13A5:NM_198505:exon27:c.G3077A:p.R1026K,T,N,N,D,N,T
chr3,194408675,194408675,G,A,R007_S,FAM43A,Missense_Mutation,NM_153690,exon1,c.G1120A,p.A374T,SNP,SNVindel,exonic,FAM43A,NA,nonsynonymous SNV,FAM43A:NM_153690:exon1:c.G1120A:p.A374T,T,N,D,D,N,T
chr3,195498643,195498643,C,T,R007_S,MUC4,Silent,NM_138297,exon3,c.G261A,p.Q87Q,SNP,SNVindel,exonic,MUC4,NA,synonymous SNV,"MUC4:NM_138297:exon3:c.G261A:p.Q87Q,MUC4:NM_004532:exon4:c.G414A:p.Q138Q,MUC4:NM_018406:exon5:c.G13122A:p.Q4374Q",NA,NA,NA,NA,NA,NA
chr3,195595272,195595272,G,A,R007_S,TNK2,Missense_Mutation,NM_001308046,exon12,c.C1948T,p.P650S,SNP,SNVindel,exonic,TNK2,NA,nonsynonymous SNV,"TNK2:NM_001308046:exon12:c.C1948T:p.P650S,TNK2:NM_005781:exon12:c.C1852T:p.P618S,TNK2:NM_001010938:exon13:c.C1969T:p.P657S",T,D,D,T,N,T
chr3,195778908,195778908,G,A,R007_S,TFRC,Silent,NM_001313966,exon17,c.C1342T,p.L448L,SNP,SNVindel,exonic,TFRC,NA,synonymous SNV,"TFRC:NM_001313966:exon17:c.C1342T:p.L448L,TFRC:NM_001313965:exon18:c.C1945T:p.L649L,TFRC:NM_001128148:exon19:c.C2188T:p.L730L,TFRC:NM_003234:exon19:c.C2188T:p.L730L",NA,NA,NA,NA,NA,NA
chr3,195800977,195800977,C,T,R007_S,TFRC,Silent,NM_001313965,exon3,c.G15A,p.L5L,SNP,SNVindel,exonic,TFRC,NA,synonymous SNV,"TFRC:NM_001313965:exon3:c.G15A:p.L5L,TFRC:NM_001128148:exon4:c.G258A:p.L86L,TFRC:NM_003234:exon4:c.G258A:p.L86L",NA,NA,NA,NA,NA,NA
chr3,195938112,195938112,G,A,R007_S,ZDHHC19,Silent,NM_001039617,exon1,c.C75T,p.F25F,SNP,SNVindel,exonic,ZDHHC19,NA,synonymous SNV,ZDHHC19:NM_001039617:exon1:c.C75T:p.F25F,NA,NA,NA,NA,NA,NA
chr3,196674582,196674582,G,A,R007_S,PIGZ,Silent,NM_025163,exon3,c.C1186T,p.L396L,SNP,SNVindel,exonic,PIGZ,NA,synonymous SNV,PIGZ:NM_025163:exon3:c.C1186T:p.L396L,NA,NA,NA,NA,NA,NA
chr3,197607398,197607398,C,T,R007_S,LRCH3,Missense_Mutation,NM_001365716,exon20,c.C2116T,p.P706S,SNP,SNVindel,exonic,LRCH3,NA,nonsynonymous SNV,"LRCH3:NM_001365716:exon20:c.C2116T:p.P706S,LRCH3:NM_001363887:exon21:c.C2224T:p.P742S",D,.,D,D,D,D
chr4,59373,59373,G,A,R007_S,ZNF595,Nonsense_Mutation,NM_001039127,exon2,c.G54A,p.W18X,SNP,SNVindel,exonic,ZNF595;ZNF718,NA,stopgain,ZNF718:NM_001039127:exon2:c.G54A:p.W18X,.,.,A,.,.,.
chr4,524340,524340,G,A,R007_S,PIGG,Missense_Mutation,NM_001289052,exon9,c.G1978A,p.G660S,SNP,SNVindel,exonic,PIGG,NA,nonsynonymous SNV,"PIGG:NM_001289052:exon9:c.G1978A:p.G660S,PIGG:NM_001345988:exon10:c.G1348A:p.G450S,PIGG:NM_001127178:exon11:c.G2377A:p.G793S,PIGG:NM_001289051:exon11:c.G2110A:p.G704S,PIGG:NM_001345986:exon11:c.G2110A:p.G704S,PIGG:NM_001345987:exon11:c.G2086A:p.G696S,PIGG:NM_001345991:exon11:c.G844A:p.G282S,PIGG:NM_017733:exon11:c.G2353A:p.G785S,PIGG:NM_001345990:exon12:c.G844A:p.G282S,PIGG:NM_001345994:exon12:c.G1279A:p.G427S",T,D,D,T,D,T
chr4,961530,961530,G,A,R007_S,DGKQ,Missense_Mutation,NM_001347,exon7,c.C872T,p.A291V,SNP,SNVindel,exonic,DGKQ,NA,nonsynonymous SNV,DGKQ:NM_001347:exon7:c.C872T:p.A291V,T,N,N,T,N,T
chr4,1341904,1341904,G,A,R007_S,UVSSA,Missense_Mutation,NM_001317934,exon2,c.G25A,p.V9I,SNP,SNVindel,exonic,UVSSA,NA,nonsynonymous SNV,"UVSSA:NM_001317934:exon2:c.G25A:p.V9I,UVSSA:NM_001317935:exon2:c.G25A:p.V9I,UVSSA:NM_020894:exon2:c.G25A:p.V9I",T,N,D,T,N,T
chr4,1347031,1347031,G,A,R007_S,UVSSA,Missense_Mutation,NM_001317934,exon5,c.G764A,p.R255K,SNP,SNVindel,exonic,UVSSA,NA,nonsynonymous SNV,"UVSSA:NM_001317934:exon5:c.G764A:p.R255K,UVSSA:NM_001317935:exon5:c.G764A:p.R255K,UVSSA:NM_020894:exon5:c.G764A:p.R255K",T,N,N,T,N,T
chr4,1348962,1348962,G,A,R007_S,UVSSA,Missense_Mutation,NM_001317934,exon7,c.G1105A,p.A369T,SNP,SNVindel,exonic,UVSSA,NA,nonsynonymous SNV,"UVSSA:NM_001317934:exon7:c.G1105A:p.A369T,UVSSA:NM_001317935:exon7:c.G1105A:p.A369T,UVSSA:NM_020894:exon7:c.G1105A:p.A369T",T,N,N,T,N,T
chr4,1843357,1843357,G,A,R007_S,LETM1,Missense_Mutation,NM_012318,exon3,c.C311T,p.P104L,SNP,SNVindel,exonic,LETM1,NA,nonsynonymous SNV,LETM1:NM_012318:exon3:c.C311T:p.P104L,D,N,D,.,N,T
chr4,1918598,1918598,G,A,R007_S,NSD2,Missense_Mutation,NM_133334,exon3,c.G761A,p.G254D,SNP,SNVindel,exonic,NSD2,NA,nonsynonymous SNV,"NSD2:NM_133334:exon3:c.G761A:p.G254D,NSD2:NM_001042424:exon4:c.G761A:p.G254D,NSD2:NM_133335:exon4:c.G761A:p.G254D,NSD2:NM_133331:exon5:c.G761A:p.G254D,NSD2:NM_007331:exon6:c.G761A:p.G254D,NSD2:NM_133330:exon6:c.G761A:p.G254D",T,D,D,T,N,T
chr4,1978261,1978261,G,A,R007_S,NSD2,Silent,NM_001042424,exon21,c.G3681A,p.R1227R,SNP,SNVindel,exonic,NSD2,NA,synonymous SNV,"NSD2:NM_001042424:exon21:c.G3681A:p.R1227R,NSD2:NM_133335:exon21:c.G3681A:p.R1227R,NSD2:NM_133331:exon22:c.G3681A:p.R1227R,NSD2:NM_133330:exon23:c.G3681A:p.R1227R",NA,NA,NA,NA,NA,NA
chr4,1993328,1993328,C,T,R007_S,NELFA,Missense_Mutation,NM_005663,exon2,c.G325A,p.E109K,SNP,SNVindel,exonic,NELFA,NA,nonsynonymous SNV,NELFA:NM_005663:exon2:c.G325A:p.E109K,D,D,D,T,D,T
chr4,2337484,2337484,C,T,R007_S,ZFYVE28,Missense_Mutation,NM_001172657,exon6,c.G649A,p.D217N,SNP,SNVindel,exonic,ZFYVE28,NA,nonsynonymous SNV,"ZFYVE28:NM_001172657:exon6:c.G649A:p.D217N,ZFYVE28:NM_001172659:exon6:c.G439A:p.D147N,ZFYVE28:NM_001172660:exon6:c.G439A:p.D147N,ZFYVE28:NM_020972:exon6:c.G649A:p.D217N",D,D,D,T,D,T
chr4,2831561,2831561,C,T,R007_S,SH3BP2,Missense_Mutation,NM_001122681,exon8,c.C928T,p.P310S,SNP,SNVindel,exonic,SH3BP2,NA,nonsynonymous SNV,"SH3BP2:NM_001122681:exon8:c.C928T:p.P310S,SH3BP2:NM_001145855:exon8:c.C1012T:p.P338S,SH3BP2:NM_001145856:exon8:c.C1099T:p.P367S,SH3BP2:NM_003023:exon8:c.C928T:p.P310S",D,N,N,D,N,D
chr4,2932621,2932621,G,A,R007_S,MFSD10,Missense_Mutation,NM_001120,exon12,c.C1312T,p.P438S,SNP,SNVindel,exonic,MFSD10,NA,nonsynonymous SNV,"MFSD10:NM_001120:exon12:c.C1312T:p.P438S,MFSD10:NM_001146069:exon13:c.C1312T:p.P438S",D,U,D,T,D,D
chr4,4322474,4322474,G,A,R007_S,ZBTB49,Missense_Mutation,NM_001330625,exon8,c.G1729A,p.V577M,SNP,SNVindel,exonic,ZBTB49,NA,nonsynonymous SNV,"ZBTB49:NM_001330625:exon8:c.G1729A:p.V577M,ZBTB49:NM_145291:exon8:c.G1729A:p.V577M",T,D,D,T,N,T
chr4,5624522,5624522,G,A,R007_S,EVC2,Missense_Mutation,NM_001166136,exon14,c.C2003T,p.T668I,SNP,SNVindel,exonic,EVC2,NA,nonsynonymous SNV,"EVC2:NM_001166136:exon14:c.C2003T:p.T668I,EVC2:NM_147127:exon14:c.C2243T:p.T748I",T,D,N,T,N,T
chr4,5990481,5990481,C,T,R007_S,C4orf50,Missense_Mutation,NM_001364690,exon5,c.G2755A,p.V919I,SNP,SNVindel,exonic,C4orf50,NA,nonsynonymous SNV,"C4orf50:NM_001364690:exon5:c.G2755A:p.V919I,C4orf50:NM_001364689:exon6:c.G3292A:p.V1098I",T,.,N,T,N,T
chr4,6325166,6325166,C,T,R007_S,PPP2R2C,Missense_Mutation,NM_001363388,exon9,c.G1165A,p.D389N,SNP,SNVindel,exonic,PPP2R2C,NA,nonsynonymous SNV,"PPP2R2C:NM_001363388:exon9:c.G1165A:p.D389N,PPP2R2C:NM_020416:exon9:c.G1207A:p.D403N,PPP2R2C:NM_181876:exon9:c.G1207A:p.D403N,PPP2R2C:NM_001206994:exon10:c.G1186A:p.D396N,PPP2R2C:NM_001206995:exon10:c.G1186A:p.D396N,PPP2R2C:NM_001206996:exon10:c.G1156A:p.D386N",D,D,D,T,N,T
chr4,6383524,6383524,G,A,R007_S,PPP2R2C,Missense_Mutation,NM_181876,exon1,c.C50T,p.P17L,SNP,SNVindel,exonic,PPP2R2C,NA,nonsynonymous SNV,PPP2R2C:NM_181876:exon1:c.C50T:p.P17L,T,.,N,T,N,T
chr4,6711322,6711322,G,A,R007_S,MRFAP1L1,Missense_Mutation,NM_203462,exon1,c.C35T,p.P12L,SNP,SNVindel,exonic,MRFAP1L1,NA,nonsynonymous SNV,MRFAP1L1:NM_203462:exon1:c.C35T:p.P12L,D,.,N,.,D,T
chr4,6925427,6925427,C,T,R007_S,TBC1D14,Missense_Mutation,NM_001113361,exon2,c.C311T,p.A104V,SNP,SNVindel,exonic,TBC1D14,NA,nonsynonymous SNV,"TBC1D14:NM_001113361:exon2:c.C311T:p.A104V,TBC1D14:NM_020773:exon2:c.C311T:p.A104V",D,N,D,T,D,T
chr4,8467269,8467269,G,A,R007_S,TRMT44,Missense_Mutation,NM_001350233,exon8,c.G752A,p.R251K,SNP,SNVindel,exonic,TRMT44,NA,nonsynonymous SNV,"TRMT44:NM_001350233:exon8:c.G752A:p.R251K,TRMT44:NM_152544:exon8:c.G1475A:p.R492K",T,D,D,T,D,T
chr4,13601790,13601790,G,A,R007_S,BOD1L1,Missense_Mutation,NM_148894,exon10,c.C6734T,p.T2245I,SNP,SNVindel,exonic,BOD1L1,NA,nonsynonymous SNV,BOD1L1:NM_148894:exon10:c.C6734T:p.T2245I,D,N,N,T,N,T
chr4,15004714,15004714,C,T,R007_S,CPEB2,Silent,NM_001177381,exon1,c.C417T,p.D139D,SNP,SNVindel,exonic,CPEB2,NA,synonymous SNV,"CPEB2:NM_001177381:exon1:c.C417T:p.D139D,CPEB2:NM_001177382:exon1:c.C417T:p.D139D,CPEB2:NM_001177383:exon1:c.C417T:p.D139D,CPEB2:NM_001177384:exon1:c.C417T:p.D139D,CPEB2:NM_182485:exon1:c.C417T:p.D139D,CPEB2:NM_182646:exon1:c.C417T:p.D139D",NA,NA,NA,NA,NA,NA
chr4,17805426,17805426,C,T,R007_S,DCAF16,Nonsense_Mutation,NM_001345881,exon2,c.G339A,p.W113X,SNP,SNVindel,exonic,DCAF16,NA,stopgain,"DCAF16:NM_001345881:exon2:c.G339A:p.W113X,DCAF16:NM_001345882:exon3:c.G339A:p.W113X,DCAF16:NM_001345884:exon3:c.G339A:p.W113X,DCAF16:NM_001345885:exon3:c.G339A:p.W113X,DCAF16:NM_017741:exon3:c.G339A:p.W113X,DCAF16:NM_001345880:exon4:c.G339A:p.W113X",.,.,A,.,.,.
chr4,21305490,21305490,C,T,R007_S,KCNIP4,Missense_Mutation,NM_147183,exon1,c.G40A,p.V14I,SNP,SNVindel,exonic,KCNIP4,NA,nonsynonymous SNV,KCNIP4:NM_147183:exon1:c.G40A:p.V14I,T,.,D,T,N,T
chr4,23815651,23815651,C,T,R007_S,PPARGC1A,Silent,NM_001330753,exon7,c.G1074A,p.R358R,SNP,SNVindel,exonic,PPARGC1A,NA,synonymous SNV,"PPARGC1A:NM_001330753:exon7:c.G1074A:p.R358R,PPARGC1A:NM_013261:exon8:c.G1455A:p.R485R,PPARGC1A:NM_001330752:exon9:c.G1419A:p.R473R,PPARGC1A:NM_001354825:exon9:c.G1470A:p.R490R,PPARGC1A:NM_001354827:exon9:c.G1470A:p.R490R,PPARGC1A:NM_001330751:exon10:c.G1470A:p.R490R,PPARGC1A:NM_001354826:exon10:c.G1074A:p.R358R",NA,NA,NA,NA,NA,NA
chr4,25005314,25005314,G,A,R007_S,LGI2,Missense_Mutation,NM_018176,exon8,c.C1397T,p.T466I,SNP,SNVindel,exonic,LGI2,NA,nonsynonymous SNV,LGI2:NM_018176:exon8:c.C1397T:p.T466I,T,N,D,T,N,T
chr4,26491787,26491787,G,A,R007_S,CCKAR,Missense_Mutation,NM_000730,exon1,c.C103T,p.P35S,SNP,SNVindel,exonic,CCKAR,NA,nonsynonymous SNV,CCKAR:NM_000730:exon1:c.C103T:p.P35S,T,N,N,T,N,T
chr4,26997108,26997108,C,T,R007_S,STIM2,Missense_Mutation,NM_001169117,exon4,c.C505T,p.P169S,SNP,SNVindel,exonic,STIM2,NA,nonsynonymous SNV,"STIM2:NM_001169117:exon4:c.C505T:p.P169S,STIM2:NM_001169118:exon4:c.C505T:p.P169S,STIM2:NM_020860:exon4:c.C505T:p.P169S",D,N,D,D,D,D
chr4,31144184,31144184,G,A,R007_S,PCDH7,Missense_Mutation,NM_001173523,exon3,c.G3481A,p.V1161I,SNP,SNVindel,exonic,PCDH7,NA,nonsynonymous SNV,"PCDH7:NM_001173523:exon3:c.G3481A:p.V1161I,PCDH7:NM_032457:exon3:c.G3457A:p.V1153I",NA,NA,NA,NA,NA,NA
chr4,37445128,37445128,G,A,R007_S,NWD2,Silent,NM_001144990,exon7,c.G1518A,p.Q506Q,SNP,SNVindel,exonic,NWD2,NA,synonymous SNV,NWD2:NM_001144990:exon7:c.G1518A:p.Q506Q,NA,NA,NA,NA,NA,NA
chr4,39318632,39318632,G,A,R007_S,RFC1,Missense_Mutation,NM_001363495,exon9,c.C1028T,p.P343L,SNP,SNVindel,exonic,RFC1,NA,nonsynonymous SNV,"RFC1:NM_001363495:exon9:c.C1028T:p.P343L,RFC1:NM_001363496:exon9:c.C1028T:p.P343L,RFC1:NM_001204747:exon10:c.C1106T:p.P369L,RFC1:NM_002913:exon10:c.C1106T:p.P369L",D,D,D,T,D,T
chr4,41622528,41622528,G,A,R007_S,LIMCH1,Silent,NM_001330672,exon7,c.G546A,p.K182K,SNP,SNVindel,exonic,LIMCH1,NA,synonymous SNV,LIMCH1:NM_001330672:exon7:c.G546A:p.K182K,NA,NA,NA,NA,NA,NA
chr4,41984688,41984688,G,A,R007_S,DCAF4L1,Silent,NM_001029955,exon1,c.G879A,p.K293K,SNP,SNVindel,exonic,DCAF4L1,NA,synonymous SNV,DCAF4L1:NM_001029955:exon1:c.G879A:p.K293K,NA,NA,NA,NA,NA,NA
chr4,48037948,48037948,G,A,R007_S,NIPAL1,Missense_Mutation,NM_207330,exon6,c.G992A,p.G331D,SNP,SNVindel,exonic,NIPAL1,NA,nonsynonymous SNV,NIPAL1:NM_207330:exon6:c.G992A:p.G331D,T,N,D,D,N,T
chr4,48380052,48380052,A,G,R007_S,SLAIN2,Silent,NM_020846,exon3,c.A678G,p.K226K,SNP,SNVindel,exonic,SLAIN2,NA,synonymous SNV,SLAIN2:NM_020846:exon3:c.A678G:p.K226K,NA,NA,NA,NA,NA,NA
chr4,52765528,52765528,C,T,R007_S,DCUN1D4,Missense_Mutation,NM_001040402,exon8,c.C599T,p.A200V,SNP,SNVindel,exonic,DCUN1D4,NA,nonsynonymous SNV,"DCUN1D4:NM_001040402:exon8:c.C599T:p.A200V,DCUN1D4:NM_001287755:exon8:c.C731T:p.A244V,DCUN1D4:NM_015115:exon8:c.C599T:p.A200V,DCUN1D4:NM_001287757:exon9:c.C419T:p.A140V",D,D,D,T,D,D
chr4,52861917,52861917,C,T,R007_S,LRRC66,Missense_Mutation,NM_001024611,exon5,c.G1271A,p.G424D,SNP,SNVindel,exonic,LRRC66,NA,nonsynonymous SNV,LRRC66:NM_001024611:exon5:c.G1271A:p.G424D,D,N,D,T,D,T
chr4,54440038,54440038,G,A,R007_S,LNX1,Silent,NM_001126328,exon2,c.C132T,p.C44C,SNP,SNVindel,exonic,LNX1,NA,synonymous SNV,LNX1:NM_001126328:exon2:c.C132T:p.C44C,NA,NA,NA,NA,NA,NA
chr4,55561915,55561915,G,A,R007_S,KIT,Missense_Mutation,NM_000222,exon2,c.G305A,p.G102D,SNP,SNVindel,exonic,KIT,NA,nonsynonymous SNV,"KIT:NM_000222:exon2:c.G305A:p.G102D,KIT:NM_001093772:exon2:c.G305A:p.G102D",D,N,D,T,N,T
chr4,55604714,55604714,C,T,R007_S,KIT,Silent,NM_000222,exon21,c.C2922T,p.D974D,SNP,SNVindel,exonic,KIT,NA,synonymous SNV,"KIT:NM_000222:exon21:c.C2922T:p.D974D,KIT:NM_001093772:exon21:c.C2910T:p.D970D",NA,NA,NA,NA,NA,NA
chr4,56759722,56759722,G,A,R007_S,EXOC1,Missense_Mutation,NM_178237,exon14,c.G1684A,p.D562N,SNP,SNVindel,exonic,EXOC1,NA,nonsynonymous SNV,"EXOC1:NM_178237:exon14:c.G1684A:p.D562N,EXOC1:NM_001024924:exon15:c.G1729A:p.D577N,EXOC1:NM_018261:exon15:c.G1729A:p.D577N",D,D,D,.,N,T
chr4,57797545,57797545,G,A,R007_S,REST,Missense_Mutation,NM_001193508,exon4,c.G2521A,p.G841S,SNP,SNVindel,exonic,REST,NA,nonsynonymous SNV,"REST:NM_001193508:exon4:c.G2521A:p.G841S,REST:NM_001363453:exon4:c.G2521A:p.G841S,REST:NM_005612:exon4:c.G2521A:p.G841S",D,D,D,T,N,T
chr4,66231711,66231711,G,A,R007_S,EPHA5,Silent,NM_001281766,exon10,c.C1926T,p.V642V,SNP,SNVindel,exonic,EPHA5,NA,synonymous SNV,"EPHA5:NM_001281766:exon10:c.C1926T:p.V642V,EPHA5:NM_182472:exon10:c.C1923T:p.V641V,EPHA5:NM_001281765:exon11:c.C1992T:p.V664V,EPHA5:NM_001281767:exon11:c.C1992T:p.V664V,EPHA5:NM_001318761:exon11:c.C1785T:p.V595V,EPHA5:NM_004439:exon11:c.C1989T:p.V663V",NA,NA,NA,NA,NA,NA
chr4,66286212,66286212,G,A,R007_S,EPHA5,Missense_Mutation,NM_001281765,exon6,c.C1474T,p.P492S,SNP,SNVindel,exonic,EPHA5,NA,nonsynonymous SNV,"EPHA5:NM_001281765:exon6:c.C1474T:p.P492S,EPHA5:NM_001281766:exon6:c.C1474T:p.P492S,EPHA5:NM_001281767:exon6:c.C1474T:p.P492S,EPHA5:NM_001318761:exon6:c.C1267T:p.P423S,EPHA5:NM_004439:exon6:c.C1474T:p.P492S,EPHA5:NM_182472:exon6:c.C1474T:p.P492S",D,D,D,T,D,D
chr4,68810330,68810330,G,A,R007_S,TMPRSS11A,Silent,NM_001114387,exon3,c.C159T,p.G53G,SNP,SNVindel,exonic,TMPRSS11A,NA,synonymous SNV,"TMPRSS11A:NM_001114387:exon3:c.C159T:p.G53G,TMPRSS11A:NM_182606:exon3:c.C159T:p.G53G",NA,NA,NA,NA,NA,NA
chr4,70080254,70080254,G,A,R007_S,UGT2B11,Missense_Mutation,NM_001073,exon1,c.C187T,p.L63F,SNP,SNVindel,exonic,UGT2B11,NA,nonsynonymous SNV,UGT2B11:NM_001073:exon1:c.C187T:p.L63F,T,U,N,T,N,T
chr4,71388517,71388517,G,A,R007_S,AMTN,Missense_Mutation,NM_001286731,exon3,c.G97A,p.D33N,SNP,SNVindel,exonic,AMTN,NA,nonsynonymous SNV,"AMTN:NM_001286731:exon3:c.G97A:p.D33N,AMTN:NM_212557:exon3:c.G100A:p.D34N",T,N,N,T,D,T
chr4,71471982,71471982,C,T,R007_S,AMBN,Silent,NM_016519,exon13,c.C879T,p.P293P,SNP,SNVindel,exonic,AMBN,NA,synonymous SNV,AMBN:NM_016519:exon13:c.C879T:p.P293P,NA,NA,NA,NA,NA,NA
chr4,72363360,72363360,C,T,R007_S,SLC4A4,Missense_Mutation,NM_003759,exon13,c.C1985T,p.S662F,SNP,SNVindel,exonic,SLC4A4,NA,nonsynonymous SNV,"SLC4A4:NM_003759:exon13:c.C1985T:p.S662F,SLC4A4:NM_001098484:exon16:c.C2117T:p.S706F,SLC4A4:NM_001134742:exon16:c.C2117T:p.S706F",T,D,D,T,N,T
chr4,73956416,73956416,G,A,R007_S,ANKRD17,Missense_Mutation,NM_198889,exon28,c.C6176T,p.P2059L,SNP,SNVindel,exonic,ANKRD17,NA,nonsynonymous SNV,"ANKRD17:NM_198889:exon28:c.C6176T:p.P2059L,ANKRD17:NM_001286771:exon29:c.C6590T:p.P2197L,ANKRD17:NM_015574:exon29:c.C6926T:p.P2309L,ANKRD17:NM_032217:exon29:c.C6929T:p.P2310L",D,D,D,T,D,T
chr4,74124054,74124054,G,A,R007_S,ANKRD17,Missense_Mutation,NM_015574,exon1,c.C332T,p.T111I,SNP,SNVindel,exonic,ANKRD17,NA,nonsynonymous SNV,"ANKRD17:NM_015574:exon1:c.C332T:p.T111I,ANKRD17:NM_032217:exon1:c.C332T:p.T111I,ANKRD17:NM_198889:exon1:c.C332T:p.T111I",T,U,N,D,N,T
chr4,75023935,75023935,C,T,R007_S,MTHFD2L,Missense_Mutation,NM_001144978,exon1,c.C80T,p.P27L,SNP,SNVindel,exonic,MTHFD2L,NA,nonsynonymous SNV,"MTHFD2L:NM_001144978:exon1:c.C80T:p.P27L,MTHFD2L:NM_001351329:exon1:c.C80T:p.P27L,MTHFD2L:NM_001351331:exon1:c.C80T:p.P27L",D,.,N,T,N,T
chr4,76794440,76794440,G,A,R007_S,PPEF2,Missense_Mutation,NM_006239,exon12,c.C1346T,p.P449L,SNP,SNVindel,exonic,PPEF2,NA,nonsynonymous SNV,PPEF2:NM_006239:exon12:c.C1346T:p.P449L,D,D,D,T,D,T
chr4,76797469,76797469,G,A,R007_S,PPEF2,Missense_Mutation,NM_006239,exon11,c.C1291T,p.R431W,SNP,SNVindel,exonic,PPEF2,NA,nonsynonymous SNV,PPEF2:NM_006239:exon11:c.C1291T:p.R431W,D,N,N,T,N,T
chr4,76861236,76861236,C,T,R007_S,NAAA,Missense_Mutation,NM_001042402,exon2,c.G289A,p.G97S,SNP,SNVindel,exonic,NAAA,NA,nonsynonymous SNV,"NAAA:NM_001042402:exon2:c.G289A:p.G97S,NAAA:NM_001363719:exon2:c.G289A:p.G97S,NAAA:NM_014435:exon2:c.G289A:p.G97S",T,N,N,T,N,T
chr4,77095351,77095351,G,A,R007_S,SCARB2,Missense_Mutation,NM_001204255,exon4,c.C511T,p.P171S,SNP,SNVindel,exonic,SCARB2,NA,nonsynonymous SNV,"SCARB2:NM_001204255:exon4:c.C511T:p.P171S,SCARB2:NM_005506:exon7:c.C940T:p.P314S",T,D,D,T,D,T
chr4,77177613,77177613,G,A,R007_S,FAM47E,Silent,NM_001136570,exon2,c.G357A,p.E119E,SNP,SNVindel,exonic,FAM47E;FAM47E-STBD1,NA,synonymous SNV,"FAM47E:NM_001136570:exon2:c.G357A:p.E119E,FAM47E-STBD1:NM_001242939:exon2:c.G357A:p.E119E",NA,NA,NA,NA,NA,NA
chr4,77660514,77660514,G,A,R007_S,SHROOM3,Silent,NM_020859,exon5,c.G1188A,p.R396R,SNP,SNVindel,exonic,SHROOM3,NA,synonymous SNV,SHROOM3:NM_020859:exon5:c.G1188A:p.R396R,NA,NA,NA,NA,NA,NA
chr4,77676340,77676340,C,T,R007_S,SHROOM3,Silent,NM_020859,exon7,c.C4704T,p.R1568R,SNP,SNVindel,exonic,SHROOM3,NA,synonymous SNV,SHROOM3:NM_020859:exon7:c.C4704T:p.R1568R,NA,NA,NA,NA,NA,NA
chr4,79328971,79328971,C,T,R007_S,FRAS1,Silent,NM_001166133,exon31,c.C4284T,p.A1428A,SNP,SNVindel,exonic,FRAS1,NA,synonymous SNV,"FRAS1:NM_001166133:exon31:c.C4284T:p.A1428A,FRAS1:NM_025074:exon31:c.C4284T:p.A1428A",NA,NA,NA,NA,NA,NA
chr4,79429985,79429985,G,A,R007_S,FRAS1,Missense_Mutation,NM_025074,exon63,c.G9605A,p.C3202Y,SNP,SNVindel,exonic,FRAS1,NA,nonsynonymous SNV,FRAS1:NM_025074:exon63:c.G9605A:p.C3202Y,.,D,D,.,.,D
chr4,79442709,79442709,C,T,R007_S,FRAS1,Missense_Mutation,NM_025074,exon68,c.C10573T,p.L3525F,SNP,SNVindel,exonic,FRAS1,NA,nonsynonymous SNV,FRAS1:NM_025074:exon68:c.C10573T:p.L3525F,.,D,D,.,.,T
chr4,79460501,79460501,G,A,R007_S,FRAS1,Silent,NM_025074,exon73,c.G11352A,p.E3784E,SNP,SNVindel,exonic,FRAS1,NA,synonymous SNV,FRAS1:NM_025074:exon73:c.G11352A:p.E3784E,NA,NA,NA,NA,NA,NA
chr4,80246372,80246372,G,A,R007_S,NAA11,Silent,NM_032693,exon1,c.C660T,p.D220D,SNP,SNVindel,exonic,NAA11,NA,synonymous SNV,NAA11:NM_032693:exon1:c.C660T:p.D220D,NA,NA,NA,NA,NA,NA
chr4,80246974,80246974,G,A,R007_S,NAA11,Missense_Mutation,NM_032693,exon1,c.C58T,p.L20F,SNP,SNVindel,exonic,NAA11,NA,nonsynonymous SNV,NAA11:NM_032693:exon1:c.C58T:p.L20F,T,U,D,T,D,T
chr4,83350633,83350633,C,T,R007_S,HNRNPDL,Missense_Mutation,NM_001207000,exon1,c.G211A,p.G71S,SNP,SNVindel,exonic,HNRNPDL,NA,nonsynonymous SNV,"HNRNPDL:NM_001207000:exon1:c.G211A:p.G71S,HNRNPDL:NM_031372:exon1:c.G211A:p.G71S",D,N,N,T,N,T
chr4,83829033,83829033,G,A,R007_S,THAP9,Missense_Mutation,NM_024672,exon4,c.G676A,p.V226I,SNP,SNVindel,exonic,THAP9,NA,nonsynonymous SNV,"THAP9:NM_024672:exon4:c.G676A:p.V226I,THAP9:NM_001317776:exon5:c.G244A:p.V82I",T,N,N,T,N,T
chr4,84358214,84358214,C,T,R007_S,HELQ,Silent,NM_001297755,exon8,c.G1644A,p.E548E,SNP,SNVindel,exonic,HELQ,NA,synonymous SNV,"HELQ:NM_001297755:exon8:c.G1644A:p.E548E,HELQ:NM_001297757:exon8:c.G213A:p.E71E,HELQ:NM_001297756:exon9:c.G354A:p.E118E,HELQ:NM_133636:exon9:c.G1845A:p.E615E",NA,NA,NA,NA,NA,NA
chr4,85504609,85504609,C,T,R007_S,CDS1,Missense_Mutation,NM_001263,exon1,c.C55T,p.P19S,SNP,SNVindel,exonic,CDS1,NA,nonsynonymous SNV,CDS1:NM_001263:exon1:c.C55T:p.P19S,T,N,N,T,N,T
chr4,85645615,85645615,G,A,R007_S,WDFY3,Missense_Mutation,NM_014991,exon46,c.C7405T,p.P2469S,SNP,SNVindel,exonic,WDFY3,NA,nonsynonymous SNV,WDFY3:NM_014991:exon46:c.C7405T:p.P2469S,T,D,D,T,N,T
chr4,85678228,85678228,G,A,R007_S,WDFY3,Missense_Mutation,NM_014991,exon33,c.C5275T,p.L1759F,SNP,SNVindel,exonic,WDFY3,NA,nonsynonymous SNV,WDFY3:NM_014991:exon33:c.C5275T:p.L1759F,T,D,D,D,D,D
chr4,85708801,85708801,G,A,R007_S,WDFY3,Silent,NM_014991,exon23,c.C3735T,p.V1245V,SNP,SNVindel,exonic,WDFY3,NA,synonymous SNV,WDFY3:NM_014991:exon23:c.C3735T:p.V1245V,NA,NA,NA,NA,NA,NA
chr4,87728827,87728827,C,T,R007_S,PTPN13,Missense_Mutation,NM_080684,exon42,c.C6287T,p.P2096L,SNP,SNVindel,exonic,PTPN13,NA,nonsynonymous SNV,"PTPN13:NM_080684:exon42:c.C6287T:p.P2096L,PTPN13:NM_006264:exon44:c.C6803T:p.P2268L,PTPN13:NM_080683:exon45:c.C6860T:p.P2287L,PTPN13:NM_080685:exon45:c.C6875T:p.P2292L",D,D,D,D,D,D
chr4,87753026,87753026,G,A,R007_S,SLC10A6,Silent,NM_197965,exon3,c.C504T,p.T168T,SNP,SNVindel,exonic,SLC10A6,NA,synonymous SNV,SLC10A6:NM_197965:exon3:c.C504T:p.T168T,NA,NA,NA,NA,NA,NA
chr4,88766394,88766394,G,A,R007_S,MEPE,Missense_Mutation,NM_001184694,exon4,c.G374A,p.G125E,SNP,SNVindel,exonic,MEPE,NA,nonsynonymous SNV,"MEPE:NM_001184694:exon4:c.G374A:p.G125E,MEPE:NM_001291183:exon4:c.G467A:p.G156E,MEPE:NM_020203:exon4:c.G374A:p.G125E,MEPE:NM_001184695:exon5:c.G35A:p.G12E,MEPE:NM_001184696:exon5:c.G35A:p.G12E,MEPE:NM_001184697:exon6:c.G35A:p.G12E",T,N,N,T,D,T
chr4,88903718,88903718,C,T,R007_S,SPP1,Silent,NM_001251829,exon5,c.C492T,p.I164I,SNP,SNVindel,exonic,SPP1,NA,synonymous SNV,"SPP1:NM_001251829:exon5:c.C492T:p.I164I,SPP1:NM_000582:exon6:c.C573T:p.I191I,SPP1:NM_001040060:exon6:c.C534T:p.I178I,SPP1:NM_001040058:exon7:c.C615T:p.I205I,SPP1:NM_001251830:exon8:c.C654T:p.I218I",NA,NA,NA,NA,NA,NA
chr4,88903864,88903864,G,A,R007_S,SPP1,Missense_Mutation,NM_001251829,exon5,c.G638A,p.S213N,SNP,SNVindel,exonic,SPP1,NA,nonsynonymous SNV,"SPP1:NM_001251829:exon5:c.G638A:p.S213N,SPP1:NM_000582:exon6:c.G719A:p.S240N,SPP1:NM_001040060:exon6:c.G680A:p.S227N,SPP1:NM_001040058:exon7:c.G761A:p.S254N,SPP1:NM_001251830:exon8:c.G800A:p.S267N",D,N,N,T,N,T
chr4,88986586,88986586,G,A,R007_S,PKD2,Missense_Mutation,NM_000297,exon11,c.G2179A,p.E727K,SNP,SNVindel,exonic,PKD2,NA,nonsynonymous SNV,PKD2:NM_000297:exon11:c.G2179A:p.E727K,T,D,D,T,N,T
chr4,89628059,89628059,G,A,R007_S,HERC3,Missense_Mutation,NM_001271602,exon25,c.G2747A,p.S916N,SNP,SNVindel,exonic,HERC3,NA,nonsynonymous SNV,"HERC3:NM_001271602:exon25:c.G2747A:p.S916N,HERC3:NM_014606:exon26:c.G3101A:p.S1034N",D,N,N,T,N,T
chr4,89671575,89671575,C,T,R007_S,FAM13A,Missense_Mutation,NM_001265580,exon7,c.G878A,p.R293K,SNP,SNVindel,exonic,FAM13A,NA,nonsynonymous SNV,"FAM13A:NM_001265580:exon7:c.G878A:p.R293K,FAM13A:NM_001265578:exon8:c.G920A:p.R307K,FAM13A:NM_001015045:exon9:c.G962A:p.R321K,FAM13A:NM_001265579:exon9:c.G962A:p.R321K,FAM13A:NM_014883:exon15:c.G1940A:p.R647K",D,D,D,T,N,T
chr4,90034816,90034816,G,A,R007_S,TIGD2,Missense_Mutation,NM_145715,exon1,c.G691A,p.A231T,SNP,SNVindel,exonic,TIGD2,NA,nonsynonymous SNV,TIGD2:NM_145715:exon1:c.G691A:p.A231T,D,U,N,T,N,T
chr4,90756776,90756776,C,T,R007_S,SNCA,Missense_Mutation,NM_000345,exon2,c.G43A,p.V15I,SNP,SNVindel,exonic,SNCA,NA,nonsynonymous SNV,"SNCA:NM_000345:exon2:c.G43A:p.V15I,SNCA:NM_001146054:exon2:c.G43A:p.V15I,SNCA:NM_001146055:exon2:c.G43A:p.V15I,SNCA:NM_007308:exon2:c.G43A:p.V15I",D,D,D,D,N,D
chr4,90816312,90816312,G,A,R007_S,MMRN1,Missense_Mutation,NM_007351,exon1,c.G190A,p.E64K,SNP,SNVindel,exonic,MMRN1,NA,nonsynonymous SNV,"MMRN1:NM_007351:exon1:c.G190A:p.E64K,MMRN1:NM_001371403:exon2:c.G190A:p.E64K",T,N,N,T,N,T
chr4,94006226,94006226,G,A,R007_S,GRID2,Missense_Mutation,NM_001510,exon3,c.G325A,p.A109T,SNP,SNVindel,exonic,GRID2,NA,nonsynonymous SNV,GRID2:NM_001510:exon3:c.G325A:p.A109T,T,D,D,D,N,T
chr4,96166208,96166208,G,A,R007_S,UNC5C,Missense_Mutation,NM_003728,exon6,c.C863T,p.T288I,SNP,SNVindel,exonic,UNC5C,NA,nonsynonymous SNV,UNC5C:NM_003728:exon6:c.C863T:p.T288I,D,D,D,T,D,T
chr4,96761667,96761667,C,T,R007_S,PDHA2,Silent,NM_005390,exon1,c.C366T,p.C122C,SNP,SNVindel,exonic,PDHA2,NA,synonymous SNV,PDHA2:NM_005390:exon1:c.C366T:p.C122C,NA,NA,NA,NA,NA,NA
chr4,99264334,99264334,C,T,R007_S,RAP1GDS1,Silent,NM_001100426,exon3,c.C160T,p.L54L,SNP,SNVindel,exonic,RAP1GDS1,NA,synonymous SNV,"RAP1GDS1:NM_001100426:exon3:c.C160T:p.L54L,RAP1GDS1:NM_001100427:exon3:c.C157T:p.L53L,RAP1GDS1:NM_001100428:exon3:c.C160T:p.L54L,RAP1GDS1:NM_001100429:exon3:c.C157T:p.L53L,RAP1GDS1:NM_001100430:exon3:c.C160T:p.L54L,RAP1GDS1:NM_021159:exon3:c.C160T:p.L54L",NA,NA,NA,NA,NA,NA
chr4,99993733,99993733,G,A,R007_S,ADH5,Missense_Mutation,NM_000671,exon8,c.C1091T,p.S364F,SNP,SNVindel,exonic,ADH5,NA,nonsynonymous SNV,ADH5:NM_000671:exon8:c.C1091T:p.S364F,D,N,N,T,D,T
chr4,100350740,100350740,G,A,R007_S,ADH7,Silent,NM_000673,exon2,c.C105T,p.S35S,SNP,SNVindel,exonic,ADH7,NA,synonymous SNV,"ADH7:NM_000673:exon2:c.C105T:p.S35S,ADH7:NM_001166504:exon2:c.C129T:p.S43S",NA,NA,NA,NA,NA,NA
chr4,100434286,100434286,C,T,R007_S,C4orf17,Silent,NM_032149,exon2,c.C48T,p.G16G,SNP,SNVindel,exonic,C4orf17,NA,synonymous SNV,C4orf17:NM_032149:exon2:c.C48T:p.G16G,NA,NA,NA,NA,NA,NA
chr4,100521875,100521875,C,T,R007_S,MTTP,Silent,NM_001300785,exon9,c.C1302T,p.L434L,SNP,SNVindel,exonic,MTTP,NA,synonymous SNV,"MTTP:NM_001300785:exon9:c.C1302T:p.L434L,MTTP:NM_000253:exon10:c.C1221T:p.L407L",NA,NA,NA,NA,NA,NA
chr4,100570797,100570797,C,T,R007_S,C4orf54,Missense_Mutation,NM_001354435,exon1,c.G5009A,p.G1670E,SNP,SNVindel,exonic,C4orf54,NA,nonsynonymous SNV,C4orf54:NM_001354435:exon1:c.G5009A:p.G1670E,D,.,.,T,N,T
chr4,100571061,100571061,G,A,R007_S,C4orf54,Missense_Mutation,NM_001354435,exon1,c.C4745T,p.P1582L,SNP,SNVindel,exonic,C4orf54,NA,nonsynonymous SNV,C4orf54:NM_001354435:exon1:c.C4745T:p.P1582L,D,.,.,T,N,T
chr4,101111107,101111107,G,A,R007_S,DDIT4L,Missense_Mutation,NM_145244,exon2,c.C34T,p.P12S,SNP,SNVindel,exonic,DDIT4L,NA,nonsynonymous SNV,DDIT4L:NM_145244:exon2:c.C34T:p.P12S,T,N,N,T,N,T
chr4,103947603,103947603,C,T,R007_S,SLC9B2,Missense_Mutation,NM_001300754,exon11,c.G1367A,p.G456D,SNP,SNVindel,exonic,SLC9B2,NA,nonsynonymous SNV,"SLC9B2:NM_001300754:exon11:c.G1367A:p.G456D,SLC9B2:NM_001370200:exon11:c.G1352A:p.G451D,SLC9B2:NM_001370203:exon11:c.G1367A:p.G456D,SLC9B2:NM_001370204:exon11:c.G1367A:p.G456D,SLC9B2:NM_001370201:exon12:c.G1538A:p.G513D,SLC9B2:NM_001370202:exon12:c.G1538A:p.G513D,SLC9B2:NM_178833:exon12:c.G1538A:p.G513D",D,D,D,T,D,T
chr4,103987496,103987496,C,T,R007_S,SLC9B2,Missense_Mutation,NM_001300754,exon3,c.G259A,p.V87I,SNP,SNVindel,exonic,SLC9B2,NA,nonsynonymous SNV,"SLC9B2:NM_001300754:exon3:c.G259A:p.V87I,SLC9B2:NM_001300756:exon3:c.G259A:p.V87I,SLC9B2:NM_001370199:exon3:c.G259A:p.V87I,SLC9B2:NM_001370200:exon3:c.G259A:p.V87I,SLC9B2:NM_001370201:exon3:c.G259A:p.V87I,SLC9B2:NM_001370202:exon3:c.G259A:p.V87I,SLC9B2:NM_001370203:exon3:c.G259A:p.V87I,SLC9B2:NM_001370204:exon3:c.G259A:p.V87I,SLC9B2:NM_001370205:exon3:c.G259A:p.V87I,SLC9B2:NM_001370206:exon3:c.G259A:p.V87I,SLC9B2:NM_001370207:exon3:c.G259A:p.V87I,SLC9B2:NM_178833:exon3:c.G259A:p.V87I",T,N,N,T,N,T
chr4,106164777,106164777,G,A,R007_S,TET2,Silent,NM_001127208,exon6,c.G3645A,p.E1215E,SNP,SNVindel,exonic,TET2,NA,synonymous SNV,TET2:NM_001127208:exon6:c.G3645A:p.E1215E,NA,NA,NA,NA,NA,NA
chr4,106197518,106197518,C,T,R007_S,TET2,Missense_Mutation,NM_001127208,exon11,c.C5851T,p.R1951W,SNP,SNVindel,exonic,TET2,NA,nonsynonymous SNV,TET2:NM_001127208:exon11:c.C5851T:p.R1951W,T,.,D,T,N,T
chr4,106552143,106552143,G,A,R007_S,ARHGEF38,Silent,NM_001242729,exon4,c.G597A,p.E199E,SNP,SNVindel,exonic,ARHGEF38,NA,synonymous SNV,"ARHGEF38:NM_001242729:exon4:c.G597A:p.E199E,ARHGEF38:NM_017700:exon4:c.G597A:p.E199E",NA,NA,NA,NA,NA,NA
chr4,106587456,106587456,G,A,R007_S,ARHGEF38,Silent,NM_001242729,exon11,c.G1668A,p.K556K,SNP,SNVindel,exonic,ARHGEF38,NA,synonymous SNV,ARHGEF38:NM_001242729:exon11:c.G1668A:p.K556K,NA,NA,NA,NA,NA,NA
chr4,108853134,108853134,G,A,R007_S,CYP2U1,Missense_Mutation,NM_183075,exon1,c.G335A,p.R112H,SNP,SNVindel,exonic,CYP2U1,NA,nonsynonymous SNV,CYP2U1:NM_183075:exon1:c.G335A:p.R112H,D,D,D,T,N,T
chr4,109748343,109748343,C,T,R007_S,COL25A1,Missense_Mutation,NM_001256074,exon31,c.G1748A,p.G583D,SNP,SNVindel,exonic,COL25A1,NA,nonsynonymous SNV,"COL25A1:NM_001256074:exon31:c.G1748A:p.G583D,COL25A1:NM_032518:exon32:c.G1712A:p.G571D,COL25A1:NM_198721:exon32:c.G1712A:p.G571D",D,D,D,D,D,D
chr4,110442611,110442611,G,A,R007_S,SEC24B,Missense_Mutation,NM_001042734,exon13,c.G2232A,p.M744I,SNP,SNVindel,exonic,SEC24B,NA,nonsynonymous SNV,"SEC24B:NM_001042734:exon13:c.G2232A:p.M744I,SEC24B:NM_001318086:exon13:c.G2229A:p.M743I,SEC24B:NM_001318085:exon14:c.G2334A:p.M778I,SEC24B:NM_006323:exon14:c.G2337A:p.M779I,SEC24B:NM_001300813:exon15:c.G2427A:p.M809I",T,D,D,T,D,T
chr4,110624519,110624519,G,A,R007_S,CASP6,Silent,NM_001226,exon1,c.C33T,p.H11H,SNP,SNVindel,exonic,CASP6,NA,synonymous SNV,"CASP6:NM_001226:exon1:c.C33T:p.H11H,CASP6:NM_032992:exon1:c.C33T:p.H11H",NA,NA,NA,NA,NA,NA
chr4,110662144,110662144,G,A,R007_S,CFI,Missense_Mutation,NM_001331035,exon12,c.C1636T,p.P546S,SNP,SNVindel,exonic,CFI,NA,nonsynonymous SNV,"CFI:NM_001331035:exon12:c.C1636T:p.P546S,CFI:NM_000204:exon13:c.C1657T:p.P553S,CFI:NM_001318057:exon14:c.C1681T:p.P561S",T,N,N,D,D,T
chr4,110972708,110972708,G,A,R007_S,ELOVL6,Missense_Mutation,NM_024090,exon4,c.C584T,p.A195V,SNP,SNVindel,exonic,ELOVL6,NA,nonsynonymous SNV,"ELOVL6:NM_024090:exon4:c.C584T:p.A195V,ELOVL6:NM_001130721:exon5:c.C584T:p.A195V",D,N,D,T,D,T
chr4,110972716,110972716,C,T,R007_S,ELOVL6,Silent,NM_024090,exon4,c.G576A,p.R192R,SNP,SNVindel,exonic,ELOVL6,NA,synonymous SNV,"ELOVL6:NM_024090:exon4:c.G576A:p.R192R,ELOVL6:NM_001130721:exon5:c.G576A:p.R192R",NA,NA,NA,NA,NA,NA
chr4,111463972,111463972,G,A,R007_S,ENPEP,Missense_Mutation,NM_001977,exon12,c.G1873A,p.G625R,SNP,SNVindel,exonic,ENPEP,NA,nonsynonymous SNV,ENPEP:NM_001977:exon12:c.G1873A:p.G625R,D,D,D,T,D,T
chr4,111539623,111539623,G,A,R007_S,PITX2,Silent,NM_000325,exon3,c.C633T,p.P211P,SNP,SNVindel,exonic,PITX2,NA,synonymous SNV,"PITX2:NM_000325:exon3:c.C633T:p.P211P,PITX2:NM_001204399:exon4:c.C474T:p.P158P,PITX2:NM_001204398:exon5:c.C612T:p.P204P,PITX2:NM_153427:exon5:c.C474T:p.P158P,PITX2:NM_153426:exon6:c.C612T:p.P204P,PITX2:NM_001204397:exon7:c.C612T:p.P204P",D,D,D,.,N,T
chr4,113199458,113199458,C,T,R007_S,TIFA,Missense_Mutation,NM_052864,exon2,c.G115A,p.E39K,SNP,SNVindel,exonic,TIFA,NA,nonsynonymous SNV,TIFA:NM_052864:exon2:c.G115A:p.E39K,D,N,N,T,N,T
chr4,113540678,113540678,C,T,R007_S,ZGRF1,Missense_Mutation,NM_001350397,exon6,c.G520A,p.A174T,SNP,SNVindel,exonic,ZGRF1,NA,nonsynonymous SNV,"ZGRF1:NM_001350397:exon6:c.G520A:p.A174T,ZGRF1:NM_018392:exon6:c.G520A:p.A174T",T,N,N,T,N,T
chr4,113540786,113540786,C,T,R007_S,ZGRF1,Missense_Mutation,NM_001350397,exon6,c.G412A,p.A138T,SNP,SNVindel,exonic,ZGRF1,NA,nonsynonymous SNV,"ZGRF1:NM_001350397:exon6:c.G412A:p.A138T,ZGRF1:NM_018392:exon6:c.G412A:p.A138T",T,N,N,D,N,T
chr4,114279183,114279183,G,A,R007_S,ANK2,Missense_Mutation,NM_001148,exon38,c.G9409A,p.E3137K,SNP,SNVindel,exonic,ANK2,NA,nonsynonymous SNV,ANK2:NM_001148:exon38:c.G9409A:p.E3137K,D,N,D,T,N,D
chr4,114823778,114823778,C,T,R007_S,ARSJ,Silent,NM_001354210,exon2,c.G1452A,p.R484R,SNP,SNVindel,exonic,ARSJ,NA,synonymous SNV,"ARSJ:NM_001354210:exon2:c.G1452A:p.R484R,ARSJ:NM_024590:exon2:c.G1452A:p.R484R,ARSJ:NM_001354211:exon6:c.G1104A:p.R368R",NA,NA,NA,NA,NA,NA
chr4,119948257,119948257,C,T,R007_S,SYNPO2,Missense_Mutation,NM_001128933,exon3,c.C733T,p.P245S,SNP,SNVindel,exonic,SYNPO2,NA,nonsynonymous SNV,"SYNPO2:NM_001128933:exon3:c.C733T:p.P245S,SYNPO2:NM_001128934:exon3:c.C733T:p.P245S,SYNPO2:NM_001286754:exon3:c.C640T:p.P214S,SYNPO2:NM_133477:exon3:c.C733T:p.P245S",T,N,N,T,N,T
chr4,119951592,119951592,C,T,R007_S,SYNPO2,Silent,NM_001128933,exon4,c.C1662T,p.Y554Y,SNP,SNVindel,exonic,SYNPO2,NA,synonymous SNV,"SYNPO2:NM_001128933:exon4:c.C1662T:p.Y554Y,SYNPO2:NM_001128934:exon4:c.C1662T:p.Y554Y,SYNPO2:NM_001286754:exon4:c.C1569T:p.Y523Y,SYNPO2:NM_133477:exon4:c.C1662T:p.Y554Y",NA,NA,NA,NA,NA,NA
chr4,119951798,119951798,C,T,R007_S,SYNPO2,Missense_Mutation,NM_001128933,exon4,c.C1868T,p.S623F,SNP,SNVindel,exonic,SYNPO2,NA,nonsynonymous SNV,"SYNPO2:NM_001128933:exon4:c.C1868T:p.S623F,SYNPO2:NM_001128934:exon4:c.C1868T:p.S623F,SYNPO2:NM_001286754:exon4:c.C1775T:p.S592F,SYNPO2:NM_133477:exon4:c.C1868T:p.S623F",D,D,D,T,D,T
chr4,119952829,119952829,C,T,R007_S,SYNPO2,Missense_Mutation,NM_001128933,exon4,c.C2899T,p.H967Y,SNP,SNVindel,exonic,SYNPO2,NA,nonsynonymous SNV,"SYNPO2:NM_001128933:exon4:c.C2899T:p.H967Y,SYNPO2:NM_001128934:exon4:c.C2899T:p.H967Y,SYNPO2:NM_001286754:exon4:c.C2806T:p.H936Y,SYNPO2:NM_133477:exon4:c.C2899T:p.H967Y",D,D,D,T,D,T
chr4,121958681,121958681,C,T,R007_S,NDNF,Missense_Mutation,NM_024574,exon4,c.G445A,p.D149N,SNP,SNVindel,exonic,NDNF,NA,nonsynonymous SNV,NDNF:NM_024574:exon4:c.G445A:p.D149N,D,D,D,.,N,T
chr4,122782741,122782741,C,T,R007_S,BBS7,Missense_Mutation,NM_018190,exon4,c.G259A,p.A87T,SNP,SNVindel,exonic,BBS7,NA,nonsynonymous SNV,"BBS7:NM_018190:exon4:c.G259A:p.A87T,BBS7:NM_176824:exon4:c.G259A:p.A87T",D,D,D,D,N,T
chr4,122782811,122782811,C,T,R007_S,BBS7,Silent,NM_018190,exon4,c.G189A,p.G63G,SNP,SNVindel,exonic,BBS7,NA,synonymous SNV,"BBS7:NM_018190:exon4:c.G189A:p.G63G,BBS7:NM_176824:exon4:c.G189A:p.G63G",NA,NA,NA,NA,NA,NA
chr4,123132126,123132126,C,T,R007_S,KIAA1109,Missense_Mutation,NM_015312,exon18,c.C2123T,p.S708F,SNP,SNVindel,exonic,KIAA1109,NA,nonsynonymous SNV,KIAA1109:NM_015312:exon18:c.C2123T:p.S708F,D,N,D,T,N,T
chr4,123301340,123301340,G,A,R007_S,ADAD1,Nonsense_Mutation,NM_001159285,exon2,c.G116A,p.W39X,SNP,SNVindel,exonic,ADAD1,NA,stopgain,"ADAD1:NM_001159285:exon2:c.G116A:p.W39X,ADAD1:NM_001159295:exon2:c.G62A:p.W21X,ADAD1:NM_139243:exon3:c.G116A:p.W39X",.,N,A,.,.,.
chr4,123663727,123663727,G,A,R007_S,BBS12,Missense_Mutation,NM_152618,exon2,c.G680A,p.R227K,SNP,SNVindel,exonic,BBS12,NA,nonsynonymous SNV,"BBS12:NM_152618:exon2:c.G680A:p.R227K,BBS12:NM_001178007:exon3:c.G680A:p.R227K",T,N,N,T,N,T
chr4,125631437,125631437,C,T,R007_S,ANKRD50,Missense_Mutation,NM_020337,exon2,c.G230A,p.G77E,SNP,SNVindel,exonic,ANKRD50,NA,nonsynonymous SNV,ANKRD50:NM_020337:exon2:c.G230A:p.G77E,D,D,D,T,D,T
chr4,126239623,126239623,G,A,R007_S,FAT4,Missense_Mutation,NM_001291285,exon1,c.G2057A,p.S686N,SNP,SNVindel,exonic,FAT4,NA,nonsynonymous SNV,"FAT4:NM_001291285:exon1:c.G2057A:p.S686N,FAT4:NM_001291303:exon1:c.G2057A:p.S686N,FAT4:NM_024582:exon1:c.G2057A:p.S686N",T,U,D,T,N,T
chr4,126242313,126242313,G,A,R007_S,FAT4,Missense_Mutation,NM_001291285,exon1,c.G4747A,p.D1583N,SNP,SNVindel,exonic,FAT4,NA,nonsynonymous SNV,"FAT4:NM_001291285:exon1:c.G4747A:p.D1583N,FAT4:NM_001291303:exon1:c.G4747A:p.D1583N,FAT4:NM_024582:exon1:c.G4747A:p.D1583N",T,U,D,T,N,T
chr4,126370188,126370188,C,T,R007_S,FAT4,Missense_Mutation,NM_001291285,exon9,c.C8023T,p.P2675S,SNP,SNVindel,exonic,FAT4,NA,nonsynonymous SNV,"FAT4:NM_001291285:exon9:c.C8023T:p.P2675S,FAT4:NM_001291303:exon9:c.C8023T:p.P2675S,FAT4:NM_024582:exon9:c.C8017T:p.P2673S",D,U,D,T,N,T
chr4,126372433,126372433,C,T,R007_S,FAT4,Missense_Mutation,NM_001291285,exon9,c.C10268T,p.T3423I,SNP,SNVindel,exonic,FAT4,NA,nonsynonymous SNV,"FAT4:NM_001291285:exon9:c.C10268T:p.T3423I,FAT4:NM_001291303:exon9:c.C10268T:p.T3423I,FAT4:NM_024582:exon9:c.C10262T:p.T3421I",D,U,D,T,D,T
chr4,126372796,126372796,G,A,R007_S,FAT4,Missense_Mutation,NM_001291285,exon9,c.G10631A,p.G3544D,SNP,SNVindel,exonic,FAT4,NA,nonsynonymous SNV,"FAT4:NM_001291285:exon9:c.G10631A:p.G3544D,FAT4:NM_001291303:exon9:c.G10631A:p.G3544D,FAT4:NM_024582:exon9:c.G10625A:p.G3542D",D,U,D,T,D,T
chr4,126400962,126400962,C,T,R007_S,FAT4,Silent,NM_001291285,exon14,c.C12546T,p.Y4182Y,SNP,SNVindel,exonic,FAT4,NA,synonymous SNV,"FAT4:NM_001291285:exon14:c.C12546T:p.Y4182Y,FAT4:NM_001291303:exon14:c.C12546T:p.Y4182Y,FAT4:NM_024582:exon14:c.C12540T:p.Y4180Y",NA,NA,NA,NA,NA,NA
chr4,126411308,126411308,G,A,R007_S,FAT4,Missense_Mutation,NM_001291285,exon17,c.G13334A,p.G4445D,SNP,SNVindel,exonic,FAT4,NA,nonsynonymous SNV,"FAT4:NM_001291285:exon17:c.G13334A:p.G4445D,FAT4:NM_001291303:exon17:c.G13337A:p.G4446D,FAT4:NM_024582:exon17:c.G13331A:p.G4444D",T,U,D,D,N,T
chr4,129792774,129792774,G,A,R007_S,JADE1,Missense_Mutation,NM_001287437,exon11,c.G1850A,p.S617N,SNP,SNVindel,exonic,JADE1,NA,nonsynonymous SNV,"JADE1:NM_001287437:exon11:c.G1850A:p.S617N,JADE1:NM_001287439:exon11:c.G1886A:p.S629N,JADE1:NM_001287440:exon11:c.G1886A:p.S629N,JADE1:NM_001287442:exon11:c.G1886A:p.S629N,JADE1:NM_001287443:exon11:c.G1886A:p.S629N,JADE1:NM_199320:exon11:c.G1886A:p.S629N",T,N,N,T,N,T
chr4,134071987,134071987,C,T,R007_S,PCDH10,Missense_Mutation,NM_020815,exon1,c.C692T,p.T231I,SNP,SNVindel,exonic,PCDH10,NA,nonsynonymous SNV,"PCDH10:NM_020815:exon1:c.C692T:p.T231I,PCDH10:NM_032961:exon1:c.C692T:p.T231I",D,D,D,T,D,T
chr4,134073362,134073362,C,T,R007_S,PCDH10,Silent,NM_020815,exon1,c.C2067T,p.G689G,SNP,SNVindel,exonic,PCDH10,NA,synonymous SNV,"PCDH10:NM_020815:exon1:c.C2067T:p.G689G,PCDH10:NM_032961:exon1:c.C2067T:p.G689G",NA,NA,NA,NA,NA,NA
chr4,135121959,135121959,G,A,R007_S,PABPC4L,Silent,NM_001114734,exon2,c.C216T,p.N72N,SNP,SNVindel,exonic,PABPC4L,NA,synonymous SNV,"PABPC4L:NM_001114734:exon2:c.C216T:p.N72N,PABPC4L:NM_001363585:exon2:c.C216T:p.N72N",NA,NA,NA,NA,NA,NA
chr4,138451923,138451923,C,T,R007_S,PCDH18,Silent,NM_001300828,exon1,c.G1320A,p.R440R,SNP,SNVindel,exonic,PCDH18,NA,synonymous SNV,"PCDH18:NM_001300828:exon1:c.G1320A:p.R440R,PCDH18:NM_019035:exon1:c.G1320A:p.R440R",NA,NA,NA,NA,NA,NA
chr4,140187838,140187838,G,A,R007_S,MGARP,Missense_Mutation,NM_032623,exon4,c.C638T,p.S213F,SNP,SNVindel,exonic,MGARP,NA,nonsynonymous SNV,MGARP:NM_032623:exon4:c.C638T:p.S213F,D,N,N,T,D,T
chr4,140641074,140641074,C,T,R007_S,MAML3,Silent,NM_018717,exon5,c.G2820A,p.L940L,SNP,SNVindel,exonic,MAML3,NA,synonymous SNV,MAML3:NM_018717:exon5:c.G2820A:p.L940L,NA,NA,NA,NA,NA,NA
chr4,140811426,140811426,G,A,R007_S,MAML3,Silent,NM_018717,exon2,c.C1164T,p.V388V,SNP,SNVindel,exonic,MAML3,NA,synonymous SNV,MAML3:NM_018717:exon2:c.C1164T:p.V388V,NA,NA,NA,NA,NA,NA
chr4,141543480,141543480,G,A,R007_S,TBC1D9,Missense_Mutation,NM_015130,exon21,c.C3670T,p.P1224S,SNP,SNVindel,exonic,TBC1D9,NA,nonsynonymous SNV,TBC1D9:NM_015130:exon21:c.C3670T:p.P1224S,T,D,D,T,N,T
chr4,141583132,141583132,G,A,R007_S,TBC1D9,Missense_Mutation,NM_015130,exon10,c.C1718T,p.A573V,SNP,SNVindel,exonic,TBC1D9,NA,nonsynonymous SNV,TBC1D9:NM_015130:exon10:c.C1718T:p.A573V,D,D,D,T,D,T
chr4,143226643,143226643,C,T,R007_S,INPP4B,Silent,NM_001101669,exon9,c.G471A,p.K157K,SNP,SNVindel,exonic,INPP4B,NA,synonymous SNV,"INPP4B:NM_001101669:exon9:c.G471A:p.K157K,INPP4B:NM_001331040:exon9:c.G471A:p.K157K,INPP4B:NM_003866:exon10:c.G471A:p.K157K",NA,NA,NA,NA,NA,NA
chr4,144107160,144107160,G,A,R007_S,USP38,Missense_Mutation,NM_001290325,exon1,c.G557A,p.R186K,SNP,SNVindel,exonic,USP38,NA,nonsynonymous SNV,"USP38:NM_001290325:exon1:c.G557A:p.R186K,USP38:NM_032557:exon1:c.G557A:p.R186K",T,N,N,T,N,T
chr4,144542271,144542271,C,T,R007_S,FREM3,Missense_Mutation,NM_001168235,exon5,c.G5698A,p.D1900N,SNP,SNVindel,exonic,FREM3,NA,nonsynonymous SNV,FREM3:NM_001168235:exon5:c.G5698A:p.D1900N,T,N,N,T,N,T
chr4,145636493,145636493,G,A,R007_S,HHIP,Nonsense_Mutation,NM_022475,exon10,c.G1589A,p.W530X,SNP,SNVindel,exonic,HHIP,NA,stopgain,HHIP:NM_022475:exon10:c.G1589A:p.W530X,.,D,A,.,.,.
chr4,146062774,146062774,G,A,R007_S,OTUD4,Missense_Mutation,NM_001102653,exon19,c.C1645T,p.P549S,SNP,SNVindel,exonic,OTUD4,NA,nonsynonymous SNV,"OTUD4:NM_001102653:exon19:c.C1645T:p.P549S,OTUD4:NM_001366057:exon19:c.C1840T:p.P614S",T,D,D,T,N,T
chr4,146601535,146601535,C,T,R007_S,C4orf51,Silent,NM_001080531,exon1,c.C180T,p.S60S,SNP,SNVindel,exonic,C4orf51,NA,synonymous SNV,C4orf51:NM_001080531:exon1:c.C180T:p.S60S,NA,NA,NA,NA,NA,NA
chr4,148406850,148406850,T,C,R007_S,EDNRA,Missense_Mutation,NM_001166055,exon2,c.T17C,p.L6P,SNP,SNVindel,exonic,EDNRA,NA,nonsynonymous SNV,"EDNRA:NM_001166055:exon2:c.T17C:p.L6P,EDNRA:NM_001354797:exon2:c.T17C:p.L6P,EDNRA:NM_001957:exon2:c.T17C:p.L6P",D,N,D,T,N,D
chr4,148555473,148555473,G,A,R007_S,TMEM184C,Missense_Mutation,NM_018241,exon10,c.G1205A,p.G402E,SNP,SNVindel,exonic,TMEM184C,NA,nonsynonymous SNV,TMEM184C:NM_018241:exon10:c.G1205A:p.G402E,T,D,D,.,N,T
chr4,149356945,149356945,C,T,R007_S,NR3C2,Silent,NM_000901,exon2,c.G1068A,p.R356R,SNP,SNVindel,exonic,NR3C2,NA,synonymous SNV,"NR3C2:NM_000901:exon2:c.G1068A:p.R356R,NR3C2:NM_001166104:exon2:c.G1068A:p.R356R,NR3C2:NM_001354819:exon2:c.G1068A:p.R356R",NA,NA,NA,NA,NA,NA
chr4,149357399,149357399,C,T,R007_S,NR3C2,Missense_Mutation,NM_000901,exon2,c.G614A,p.C205Y,SNP,SNVindel,exonic,NR3C2,NA,nonsynonymous SNV,"NR3C2:NM_000901:exon2:c.G614A:p.C205Y,NR3C2:NM_001166104:exon2:c.G614A:p.C205Y,NR3C2:NM_001354819:exon2:c.G614A:p.C205Y",D,D,D,D,N,D
chr4,149357423,149357423,G,A,R007_S,NR3C2,Missense_Mutation,NM_000901,exon2,c.C590T,p.P197L,SNP,SNVindel,exonic,NR3C2,NA,nonsynonymous SNV,"NR3C2:NM_000901:exon2:c.C590T:p.P197L,NR3C2:NM_001166104:exon2:c.C590T:p.P197L,NR3C2:NM_001354819:exon2:c.C590T:p.P197L",D,D,D,D,N,D
chr4,149357569,149357569,G,A,R007_S,NR3C2,Silent,NM_000901,exon2,c.C444T,p.G148G,SNP,SNVindel,exonic,NR3C2,NA,synonymous SNV,"NR3C2:NM_000901:exon2:c.C444T:p.G148G,NR3C2:NM_001166104:exon2:c.C444T:p.G148G,NR3C2:NM_001354819:exon2:c.C444T:p.G148G",NA,NA,NA,NA,NA,NA
chr4,152201063,152201063,C,T,R007_S,PRSS48,Silent,NM_183375,exon2,c.C168T,p.S56S,SNP,SNVindel,exonic,PRSS48,NA,synonymous SNV,PRSS48:NM_183375:exon2:c.C168T:p.S56S,NA,NA,NA,NA,NA,NA
chr4,153896102,153896102,C,T,R007_S,FHDC1,Silent,NM_033393,exon11,c.C1659T,p.T553T,SNP,SNVindel,exonic,FHDC1,NA,synonymous SNV,"FHDC1:NM_033393:exon11:c.C1659T:p.T553T,FHDC1:NM_001371116:exon12:c.C1659T:p.T553T",NA,NA,NA,NA,NA,NA
chr4,154249752,154249752,C,T,R007_S,TRIM2,Missense_Mutation,NM_001130067,exon11,c.C2012T,p.A671V,SNP,SNVindel,exonic,TRIM2,NA,nonsynonymous SNV,"TRIM2:NM_001130067:exon11:c.C2012T:p.A671V,TRIM2:NM_001351054:exon11:c.C2078T:p.A693V,TRIM2:NM_001351055:exon11:c.C2075T:p.A692V,TRIM2:NM_001351056:exon11:c.C2024T:p.A675V,TRIM2:NM_015271:exon11:c.C2093T:p.A698V,TRIM2:NM_001351057:exon12:c.C1637T:p.A546V",D,D,D,T,N,T
chr4,154624962,154624962,C,T,R007_S,TLR2,Silent,NM_001318789,exon3,c.C903T,p.D301D,SNP,SNVindel,exonic,TLR2,NA,synonymous SNV,"TLR2:NM_001318789:exon3:c.C903T:p.D301D,TLR2:NM_001318790:exon3:c.C903T:p.D301D,TLR2:NM_001318791:exon3:c.C903T:p.D301D,TLR2:NM_001318793:exon3:c.C903T:p.D301D,TLR2:NM_001318795:exon3:c.C903T:p.D301D,TLR2:NM_001318796:exon3:c.C903T:p.D301D,TLR2:NM_003264:exon3:c.C903T:p.D301D,TLR2:NM_001318787:exon4:c.C903T:p.D301D",NA,NA,NA,NA,NA,NA
chr4,155461802,155461802,C,T,R007_S,PLRG1,Missense_Mutation,NM_001201564,exon10,c.G856A,p.D286N,SNP,SNVindel,exonic,PLRG1,NA,nonsynonymous SNV,"PLRG1:NM_001201564:exon10:c.G856A:p.D286N,PLRG1:NM_002669:exon10:c.G883A:p.D295N",T,D,D,T,N,T
chr4,159091462,159091462,G,A,R007_S,GASK1B,Silent,NM_001031700,exon3,c.C948T,p.F316F,SNP,SNVindel,exonic,GASK1B,NA,synonymous SNV,GASK1B:NM_001031700:exon3:c.C948T:p.F316F,NA,NA,NA,NA,NA,NA
chr4,164394010,164394010,G,A,R007_S,TKTL2,Missense_Mutation,NM_032136,exon1,c.C877T,p.P293S,SNP,SNVindel,exonic,TKTL2,NA,nonsynonymous SNV,TKTL2:NM_032136:exon1:c.C877T:p.P293S,D,D,D,D,D,D
chr4,167012429,167012429,G,A,R007_S,TLL1,Missense_Mutation,NM_012464,exon19,c.G2592A,p.M864I,SNP,SNVindel,exonic,TLL1,NA,nonsynonymous SNV,TLL1:NM_012464:exon19:c.G2592A:p.M864I,D,U,D,T,N,T
chr4,169348425,169348425,G,A,R007_S,DDX60L,Missense_Mutation,NM_001012967,exon14,c.C1726T,p.L576F,SNP,SNVindel,exonic,DDX60L,NA,nonsynonymous SNV,"DDX60L:NM_001012967:exon14:c.C1726T:p.L576F,DDX60L:NM_001291510:exon14:c.C1726T:p.L576F,DDX60L:NM_001345927:exon14:c.C1726T:p.L576F",T,U,N,T,N,T
chr4,170618796,170618796,G,A,R007_S,CLCN3,Missense_Mutation,NM_001243372,exon8,c.G1393A,p.A465T,SNP,SNVindel,exonic,CLCN3,NA,nonsynonymous SNV,"CLCN3:NM_001243372:exon8:c.G1393A:p.A465T,CLCN3:NM_001243374:exon8:c.G1393A:p.A465T,CLCN3:NM_001829:exon9:c.G1474A:p.A492T,CLCN3:NM_173872:exon9:c.G1474A:p.A492T",D,D,D,D,D,D
chr4,173232894,173232894,G,A,R007_S,GALNTL6,Missense_Mutation,NM_001034845,exon4,c.G377A,p.R126H,SNP,SNVindel,exonic,GALNTL6,NA,nonsynonymous SNV,GALNTL6:NM_001034845:exon4:c.G377A:p.R126H,D,N,D,T,D,D
chr4,173734867,173734867,C,T,R007_S,GALNTL6,Missense_Mutation,NM_001034845,exon7,c.C916T,p.P306S,SNP,SNVindel,exonic,GALNTL6,NA,nonsynonymous SNV,GALNTL6:NM_001034845:exon7:c.C916T:p.P306S,D,D,D,T,D,D
chr4,177113959,177113959,G,A,R007_S,SPATA4,Silent,NM_144644,exon4,c.C507T,p.D169D,SNP,SNVindel,exonic,SPATA4,NA,synonymous SNV,SPATA4:NM_144644:exon4:c.C507T:p.D169D,NA,NA,NA,NA,NA,NA
chr4,183635252,183635252,G,A,R007_S,TENM3,Missense_Mutation,NM_001080477,exon13,c.G2234A,p.G745D,SNP,SNVindel,exonic,TENM3,NA,nonsynonymous SNV,TENM3:NM_001080477:exon13:c.G2234A:p.G745D,T,.,D,T,D,T
chr4,183650299,183650299,C,T,R007_S,TENM3,Silent,NM_001080477,exon14,c.C2550T,p.T850T,SNP,SNVindel,exonic,TENM3,NA,synonymous SNV,TENM3:NM_001080477:exon14:c.C2550T:p.T850T,NA,NA,NA,NA,NA,NA
chr4,184367520,184367520,G,A,R007_S,CDKN2AIP,Missense_Mutation,NM_017632,exon3,c.G683A,p.G228E,SNP,SNVindel,exonic,CDKN2AIP,NA,nonsynonymous SNV,CDKN2AIP:NM_017632:exon3:c.G683A:p.G228E,T,N,D,.,N,T
chr4,184618714,184618714,C,T,R007_S,TRAPPC11,Missense_Mutation,NM_021942,exon24,c.C2687T,p.S896F,SNP,SNVindel,exonic,TRAPPC11,NA,nonsynonymous SNV,"TRAPPC11:NM_021942:exon24:c.C2687T:p.S896F,TRAPPC11:NM_199053:exon24:c.C2687T:p.S896F",D,D,D,.,D,T
chr4,187078775,187078775,C,T,R007_S,FAM149A,Missense_Mutation,NM_001006655,exon8,c.C631T,p.L211F,SNP,SNVindel,exonic,FAM149A,NA,nonsynonymous SNV,"FAM149A:NM_001006655:exon8:c.C631T:p.L211F,FAM149A:NM_001350178:exon8:c.C631T:p.L211F,FAM149A:NM_001350179:exon8:c.C631T:p.L211F,FAM149A:NM_001367768:exon8:c.C1477T:p.L493F,FAM149A:NM_015398:exon8:c.C631T:p.L211F",T,N,N,T,N,T
chr4,187455424,187455424,C,T,R007_S,MTNR1A,Missense_Mutation,NM_005958,exon2,c.G472A,p.A158T,SNP,SNVindel,exonic,MTNR1A,NA,nonsynonymous SNV,MTNR1A:NM_005958:exon2:c.G472A:p.A158T,D,D,D,T,D,D
chr4,187521501,187521501,C,T,R007_S,FAT1,Missense_Mutation,NM_005245,exon22,c.G11654A,p.R3885K,SNP,SNVindel,exonic,FAT1,NA,nonsynonymous SNV,FAT1:NM_005245:exon22:c.G11654A:p.R3885K,T,D,D,T,N,T
chr4,187584480,187584480,C,T,R007_S,FAT1,Missense_Mutation,NM_005245,exon3,c.G3553A,p.G1185R,SNP,SNVindel,exonic,FAT1,NA,nonsynonymous SNV,FAT1:NM_005245:exon3:c.G3553A:p.G1185R,D,D,D,T,D,T
chr4,187628690,187628690,G,A,R007_S,FAT1,Silent,NM_005245,exon2,c.C2292T,p.C764C,SNP,SNVindel,exonic,FAT1,NA,synonymous SNV,FAT1:NM_005245:exon2:c.C2292T:p.C764C,NA,NA,NA,NA,NA,NA
chr4,189068385,189068385,C,T,R007_S,TRIML1,Silent,NM_178556,exon6,c.C1266T,p.N422N,SNP,SNVindel,exonic,TRIML1,NA,synonymous SNV,TRIML1:NM_178556:exon6:c.C1266T:p.N422N,NA,NA,NA,NA,NA,NA
chr5,192514,192514,C,T,R007_S,LRRC14B,Silent,NM_001080478,exon1,c.C861T,p.A287A,SNP,SNVindel,exonic,LRRC14B,NA,synonymous SNV,LRRC14B:NM_001080478:exon1:c.C861T:p.A287A,NA,NA,NA,NA,NA,NA
chr5,1335224,1335224,C,T,R007_S,CLPTM1L,Silent,NM_030782,exon6,c.G744A,p.R248R,SNP,SNVindel,exonic,CLPTM1L,NA,synonymous SNV,CLPTM1L:NM_030782:exon6:c.G744A:p.R248R,NA,NA,NA,NA,NA,NA
chr5,1443124,1443124,C,T,R007_S,SLC6A3,Nonsense_Mutation,NM_001044,exon2,c.G189A,p.W63X,SNP,SNVindel,exonic,SLC6A3,NA,stopgain,SLC6A3:NM_001044:exon2:c.G189A:p.W63X,.,D,A,.,.,.
chr5,1443170,1443170,G,A,R007_S,SLC6A3,Missense_Mutation,NM_001044,exon2,c.C143T,p.T48I,SNP,SNVindel,exonic,SLC6A3,NA,nonsynonymous SNV,SLC6A3:NM_001044:exon2:c.C143T:p.T48I,T,N,N,T,N,T
chr5,2748661,2748661,G,A,R007_S,IRX2,Silent,NM_001134222,exon3,c.C1161T,p.P387P,SNP,SNVindel,exonic,IRX2,NA,synonymous SNV,"IRX2:NM_001134222:exon3:c.C1161T:p.P387P,IRX2:NM_033267:exon3:c.C1161T:p.P387P",NA,NA,NA,NA,NA,NA
chr5,6449205,6449205,C,T,R007_S,UBE2QL1,Missense_Mutation,NM_001145161,exon1,c.C199T,p.P67S,SNP,SNVindel,exonic,UBE2QL1,NA,nonsynonymous SNV,UBE2QL1:NM_001145161:exon1:c.C199T:p.P67S,D,U,D,T,D,D
chr5,9224836,9224836,C,T,R007_S,SEMA5A,Missense_Mutation,NM_003966,exon8,c.G596A,p.G199D,SNP,SNVindel,exonic,SEMA5A,NA,nonsynonymous SNV,SEMA5A:NM_003966:exon8:c.G596A:p.G199D,D,D,D,T,D,T
chr5,10448486,10448486,G,A,R007_S,ROPN1L,Silent,NM_031916,exon2,c.G246A,p.L82L,SNP,SNVindel,exonic,ROPN1L,NA,synonymous SNV,"ROPN1L:NM_031916:exon2:c.G246A:p.L82L,ROPN1L:NM_001201466:exon3:c.G246A:p.L82L",NA,NA,NA,NA,NA,NA
chr5,14381275,14381275,C,T,R007_S,TRIO,Missense_Mutation,NM_007118,exon21,c.C3484T,p.L1162F,SNP,SNVindel,exonic,TRIO,NA,nonsynonymous SNV,TRIO:NM_007118:exon21:c.C3484T:p.L1162F,D,D,D,T,D,T
chr5,14420004,14420004,C,T,R007_S,TRIO,Missense_Mutation,NM_007118,exon34,c.C5077T,p.P1693S,SNP,SNVindel,exonic,TRIO,NA,nonsynonymous SNV,TRIO:NM_007118:exon34:c.C5077T:p.P1693S,T,D,D,T,D,T
chr5,14461288,14461288,G,A,R007_S,TRIO,Silent,NM_007118,exon35,c.G5364A,p.K1788K,SNP,SNVindel,exonic,TRIO,NA,synonymous SNV,TRIO:NM_007118:exon35:c.G5364A:p.K1788K,NA,NA,NA,NA,NA,NA
chr5,14508229,14508229,G,A,R007_S,TRIO,Missense_Mutation,NM_007118,exon57,c.G8992A,p.E2998K,SNP,SNVindel,exonic,TRIO,NA,nonsynonymous SNV,TRIO:NM_007118:exon57:c.G8992A:p.E2998K,D,N,D,T,N,T
chr5,16067853,16067853,C,T,R007_S,MARCHF11,Nonsense_Mutation,NM_001102562,exon4,c.G936A,p.W312X,SNP,SNVindel,exonic,MARCHF11,NA,stopgain,MARCHF11:NM_001102562:exon4:c.G936A:p.W312X,.,D,D,.,.,.
chr5,16177958,16177958,C,T,R007_S,MARCHF11,Silent,NM_001102562,exon2,c.G570A,p.G190G,SNP,SNVindel,exonic,MARCHF11,NA,synonymous SNV,MARCHF11:NM_001102562:exon2:c.G570A:p.G190G,NA,NA,NA,NA,NA,NA
chr5,16465553,16465553,C,T,R007_S,ZNF622,Silent,NM_033414,exon1,c.G222A,p.K74K,SNP,SNVindel,exonic,ZNF622,NA,synonymous SNV,ZNF622:NM_033414:exon1:c.G222A:p.K74K,NA,NA,NA,NA,NA,NA
chr5,16675055,16675055,C,T,R007_S,MYO10,Missense_Mutation,NM_012334,exon35,c.G4871A,p.G1624D,SNP,SNVindel,exonic,MYO10,NA,nonsynonymous SNV,MYO10:NM_012334:exon35:c.G4871A:p.G1624D,D,.,D,D,D,D
chr5,21783475,21783475,C,T,R007_S,CDH12,Missense_Mutation,NM_001364109,exon6,c.G713A,p.S238N,SNP,SNVindel,exonic,CDH12,NA,nonsynonymous SNV,"CDH12:NM_001364109:exon6:c.G713A:p.S238N,CDH12:NM_001317227:exon8:c.G1385A:p.S462N,CDH12:NM_001317228:exon8:c.G1265A:p.S422N,CDH12:NM_001364107:exon9:c.G1385A:p.S462N,CDH12:NM_001364108:exon9:c.G1385A:p.S462N,CDH12:NM_001364104:exon10:c.G1385A:p.S462N,CDH12:NM_001364106:exon11:c.G1385A:p.S462N,CDH12:NM_004061:exon11:c.G1385A:p.S462N,CDH12:NM_001364105:exon12:c.G1385A:p.S462N",D,D,D,T,N,T
chr5,31305336,31305336,C,T,R007_S,CDH6,Missense_Mutation,NM_001362435,exon7,c.C1055T,p.P352L,SNP,SNVindel,exonic,CDH6,NA,nonsynonymous SNV,"CDH6:NM_001362435:exon7:c.C1055T:p.P352L,CDH6:NM_004932:exon7:c.C1055T:p.P352L",T,D,D,T,N,T
chr5,32077662,32077662,C,T,R007_S,PDZD2,Missense_Mutation,NM_178140,exon19,c.C3632T,p.T1211I,SNP,SNVindel,exonic,PDZD2,NA,nonsynonymous SNV,PDZD2:NM_178140:exon19:c.C3632T:p.T1211I,D,N,N,T,N,T
chr5,32090166,32090166,G,A,R007_S,PDZD2,Silent,NM_178140,exon20,c.G6612A,p.G2204G,SNP,SNVindel,exonic,PDZD2,NA,synonymous SNV,PDZD2:NM_178140:exon20:c.G6612A:p.G2204G,NA,NA,NA,NA,NA,NA
chr5,33461130,33461130,C,T,R007_S,TARS,Silent,NM_152295,exon12,c.C1374T,p.F458F,SNP,SNVindel,exonic,TARS,NA,synonymous SNV,"TARS:NM_152295:exon12:c.C1374T:p.F458F,TARS:NM_001258437:exon13:c.C1374T:p.F458F,TARS:NM_001258438:exon13:c.C1473T:p.F491F",NA,NA,NA,NA,NA,NA
chr5,33463860,33463860,C,T,R007_S,TARS,Missense_Mutation,NM_152295,exon17,c.C1838T,p.P613L,SNP,SNVindel,exonic,TARS,NA,nonsynonymous SNV,"TARS:NM_152295:exon17:c.C1838T:p.P613L,TARS:NM_001258437:exon18:c.C1838T:p.P613L,TARS:NM_001258438:exon18:c.C1937T:p.P646L",D,D,D,T,D,D
chr5,33561232,33561232,G,A,R007_S,ADAMTS12,Missense_Mutation,NM_001324512,exon18,c.C3770T,p.T1257I,SNP,SNVindel,exonic,ADAMTS12,NA,nonsynonymous SNV,"ADAMTS12:NM_001324512:exon18:c.C3770T:p.T1257I,ADAMTS12:NM_030955:exon20:c.C4025T:p.T1342I",D,D,N,T,D,T
chr5,34867127,34867127,G,A,R007_S,TTC23L,Missense_Mutation,NM_001317949,exon7,c.G820A,p.E274K,SNP,SNVindel,exonic,TTC23L,NA,nonsynonymous SNV,"TTC23L:NM_001317949:exon7:c.G820A:p.E274K,TTC23L:NM_144725:exon7:c.G793A:p.E265K",D,D,D,T,D,T
chr5,34922829,34922829,G,A,R007_S,BRIX1,Missense_Mutation,NM_018321,exon6,c.G466A,p.G156R,SNP,SNVindel,exonic,BRIX1,NA,nonsynonymous SNV,BRIX1:NM_018321:exon6:c.G466A:p.G156R,D,D,D,T,D,T
chr5,35910582,35910582,C,T,R007_S,CAPSL,Silent,NM_001042625,exon3,c.G201A,p.G67G,SNP,SNVindel,exonic,CAPSL,NA,synonymous SNV,"CAPSL:NM_001042625:exon3:c.G201A:p.G67G,CAPSL:NM_144647:exon3:c.G201A:p.G67G",NA,NA,NA,NA,NA,NA
chr5,36182028,36182028,C,T,R007_S,SKP2,Silent,NM_001243120,exon8,c.C528T,p.C176C,SNP,SNVindel,exonic,SKP2,NA,synonymous SNV,"SKP2:NM_001243120:exon8:c.C528T:p.C176C,SKP2:NM_005983:exon10:c.C1170T:p.C390C",NA,NA,NA,NA,NA,NA
chr5,37722984,37722984,C,T,R007_S,WDR70,Silent,NM_001345999,exon14,c.C1479T,p.T493T,SNP,SNVindel,exonic,WDR70,NA,synonymous SNV,"WDR70:NM_001345999:exon14:c.C1479T:p.T493T,WDR70:NM_001345998:exon15:c.C1542T:p.T514T,WDR70:NM_018034:exon15:c.C1545T:p.T515T",NA,NA,NA,NA,NA,NA
chr5,39202198,39202198,C,T,R007_S,FYB1,Missense_Mutation,NM_001243093,exon2,c.G895A,p.D299N,SNP,SNVindel,exonic,FYB1,NA,nonsynonymous SNV,"FYB1:NM_001243093:exon2:c.G895A:p.D299N,FYB1:NM_001465:exon2:c.G865A:p.D289N,FYB1:NM_199335:exon2:c.G865A:p.D289N,FYB1:NM_001349333:exon3:c.G865A:p.D289N,FYB1:NM_018594:exon3:c.G895A:p.D299N",T,N,D,T,N,T
chr5,39202735,39202735,G,A,R007_S,FYB1,Silent,NM_001243093,exon2,c.C358T,p.L120L,SNP,SNVindel,exonic,FYB1,NA,synonymous SNV,"FYB1:NM_001243093:exon2:c.C358T:p.L120L,FYB1:NM_001465:exon2:c.C328T:p.L110L,FYB1:NM_199335:exon2:c.C328T:p.L110L,FYB1:NM_001349333:exon3:c.C328T:p.L110L,FYB1:NM_018594:exon3:c.C358T:p.L120L",NA,NA,NA,NA,NA,NA
chr5,40762995,40762995,G,A,R007_S,PRKAA1,Missense_Mutation,NM_001355029,exon8,c.C1133T,p.T378I,SNP,SNVindel,exonic,PRKAA1,NA,nonsynonymous SNV,"PRKAA1:NM_001355029:exon8:c.C1133T:p.T378I,PRKAA1:NM_001355035:exon8:c.C791T:p.T264I,PRKAA1:NM_001355036:exon8:c.C791T:p.T264I,PRKAA1:NM_001355037:exon9:c.C791T:p.T264I,PRKAA1:NM_006251:exon9:c.C1565T:p.T522I,PRKAA1:NM_001355028:exon10:c.C1487T:p.T496I,PRKAA1:NM_206907:exon10:c.C1610T:p.T537I",D,D,D,T,N,T
chr5,41196032,41196032,C,T,R007_S,C6,Missense_Mutation,NM_000065,exon5,c.G449A,p.R150H,SNP,SNVindel,exonic,C6,NA,nonsynonymous SNV,"C6:NM_000065:exon5:c.G449A:p.R150H,C6:NM_001115131:exon5:c.G449A:p.R150H",D,D,D,D,D,D
chr5,42718683,42718683,G,A,R007_S,GHR,Silent,NM_001242460,exon8,c.G1008A,p.E336E,SNP,SNVindel,exonic,GHR,NA,synonymous SNV,"GHR:NM_001242460:exon8:c.G1008A:p.E336E,GHR:NM_001242406:exon9:c.G1074A:p.E358E,GHR:NM_000163:exon10:c.G1074A:p.E358E,GHR:NM_001242399:exon10:c.G1095A:p.E365E,GHR:NM_001242402:exon10:c.G1074A:p.E358E,GHR:NM_001242403:exon10:c.G1074A:p.E358E,GHR:NM_001242404:exon10:c.G1074A:p.E358E,GHR:NM_001242405:exon10:c.G1074A:p.E358E,GHR:NM_001242400:exon11:c.G1074A:p.E358E,GHR:NM_001242401:exon11:c.G1074A:p.E358E",NA,NA,NA,NA,NA,NA
chr5,43298924,43298924,G,A,R007_S,HMGCS1,Silent,NM_001324219,exon2,c.C144T,p.T48T,SNP,SNVindel,exonic,HMGCS1,NA,synonymous SNV,"HMGCS1:NM_001324219:exon2:c.C144T:p.T48T,HMGCS1:NM_001324223:exon2:c.C144T:p.T48T,HMGCS1:NM_002130:exon2:c.C144T:p.T48T,HMGCS1:NM_001098272:exon3:c.C144T:p.T48T,HMGCS1:NM_001324220:exon3:c.C144T:p.T48T,HMGCS1:NM_001324222:exon3:c.C144T:p.T48T,HMGCS1:NM_001324224:exon3:c.C144T:p.T48T,HMGCS1:NM_001330663:exon3:c.C144T:p.T48T,HMGCS1:NM_001364188:exon3:c.C144T:p.T48T",NA,NA,NA,NA,NA,NA
chr5,43628432,43628432,C,T,R007_S,NNT,Missense_Mutation,NM_001331026,exon6,c.C514T,p.L172F,SNP,SNVindel,exonic,NNT,NA,nonsynonymous SNV,"NNT:NM_001331026:exon6:c.C514T:p.L172F,NNT:NM_012343:exon7:c.C907T:p.L303F,NNT:NM_182977:exon7:c.C907T:p.L303F",D,D,D,D,D,D
chr5,43628480,43628480,C,T,R007_S,NNT,Missense_Mutation,NM_001331026,exon6,c.C562T,p.L188F,SNP,SNVindel,exonic,NNT,NA,nonsynonymous SNV,"NNT:NM_001331026:exon6:c.C562T:p.L188F,NNT:NM_012343:exon7:c.C955T:p.L319F,NNT:NM_182977:exon7:c.C955T:p.L319F",D,D,D,D,D,D
chr5,44388674,44388674,G,A,R007_S,FGF10,Silent,NM_004465,exon1,c.C111T,p.C37C,SNP,SNVindel,exonic,FGF10,NA,synonymous SNV,FGF10:NM_004465:exon1:c.C111T:p.C37C,NA,NA,NA,NA,NA,NA
chr5,45462076,45462076,C,T,R007_S,HCN1,Missense_Mutation,NM_021072,exon3,c.G883A,p.V295M,SNP,SNVindel,exonic,HCN1,NA,nonsynonymous SNV,HCN1:NM_021072:exon3:c.G883A:p.V295M,T,D,D,D,N,D
chr5,50111309,50111309,C,T,R007_S,PARP8,Missense_Mutation,NM_001178056,exon15,c.C1619T,p.T540I,SNP,SNVindel,exonic,PARP8,NA,nonsynonymous SNV,"PARP8:NM_001178056:exon15:c.C1619T:p.T540I,PARP8:NM_001331028:exon15:c.C1556T:p.T519I,PARP8:NM_024615:exon15:c.C1619T:p.T540I,PARP8:NM_001178055:exon16:c.C1619T:p.T540I",D,D,D,.,D,T
chr5,52779398,52779398,C,T,R007_S,FST,Silent,NM_006350,exon3,c.C342T,p.P114P,SNP,SNVindel,exonic,FST,NA,synonymous SNV,"FST:NM_006350:exon3:c.C342T:p.P114P,FST:NM_013409:exon3:c.C342T:p.P114P",NA,NA,NA,NA,NA,NA
chr5,54516291,54516291,C,T,R007_S,MCIDAS,Missense_Mutation,NM_001190787,exon7,c.G1061A,p.S354N,SNP,SNVindel,exonic,MCIDAS,NA,nonsynonymous SNV,MCIDAS:NM_001190787:exon7:c.G1061A:p.S354N,T,.,N,.,N,T
chr5,54529328,54529328,G,A,R007_S,CCNO,Silent,NM_021147,exon1,c.C24T,p.S8S,SNP,SNVindel,exonic,CCNO,NA,synonymous SNV,CCNO:NM_021147:exon1:c.C24T:p.S8S,NA,NA,NA,NA,NA,NA
chr5,54635900,54635900,C,T,R007_S,MTREX,Missense_Mutation,NM_015360,exon6,c.C578T,p.A193V,SNP,SNVindel,exonic,MTREX,NA,nonsynonymous SNV,MTREX:NM_015360:exon6:c.C578T:p.A193V,D,D,D,T,D,T
chr5,61659634,61659634,G,A,R007_S,KIF2A,Missense_Mutation,NM_001098511,exon14,c.G1375A,p.A459T,SNP,SNVindel,exonic,KIF2A,NA,nonsynonymous SNV,"KIF2A:NM_001098511:exon14:c.G1375A:p.A459T,KIF2A:NM_001243953:exon14:c.G1318A:p.A440T,KIF2A:NM_004520:exon14:c.G1375A:p.A459T,KIF2A:NM_001243952:exon15:c.G1315A:p.A439T",D,D,D,D,D,D
chr5,61747609,61747609,C,T,R007_S,IPO11,Missense_Mutation,NM_001134779,exon5,c.C485T,p.P162L,SNP,SNVindel,exonic,IPO11,NA,nonsynonymous SNV,"IPO11:NM_001134779:exon5:c.C485T:p.P162L,IPO11:NM_016338:exon5:c.C365T:p.P122L",T,D,D,T,D,D
chr5,63257205,63257205,G,A,R007_S,HTR1A,Silent,NM_000524,exon1,c.C342T,p.A114A,SNP,SNVindel,exonic,HTR1A,NA,synonymous SNV,HTR1A:NM_000524:exon1:c.C342T:p.A114A,NA,NA,NA,NA,NA,NA
chr5,63890638,63890638,C,T,R007_S,RGS7BP,Nonsense_Mutation,NM_001271890,exon2,c.C166T,p.Q56X,SNP,SNVindel,exonic,RGS7BP,NA,stopgain,"RGS7BP:NM_001271890:exon2:c.C166T:p.Q56X,RGS7BP:NM_001271891:exon2:c.C166T:p.Q56X,RGS7BP:NM_001029875:exon4:c.C565T:p.Q189X",.,D,A,.,.,.
chr5,64881871,64881871,G,A,R007_S,PPWD1,Missense_Mutation,NM_001278929,exon9,c.G1192A,p.G398R,SNP,SNVindel,exonic,PPWD1,NA,nonsynonymous SNV,"PPWD1:NM_001278929:exon9:c.G1192A:p.G398R,PPWD1:NM_001278927:exon10:c.G1240A:p.G414R,PPWD1:NM_015342:exon10:c.G1660A:p.G554R,PPWD1:NM_001278926:exon11:c.G1570A:p.G524R",D,D,D,T,D,D
chr5,65105911,65105911,C,T,R007_S,NLN,Missense_Mutation,NM_020726,exon11,c.C1762T,p.L588F,SNP,SNVindel,exonic,NLN,NA,nonsynonymous SNV,NLN:NM_020726:exon11:c.C1762T:p.L588F,D,D,D,T,D,T
chr5,65465912,65465912,G,A,R007_S,SREK1,Silent,NM_001077199,exon8,c.G1035A,p.Q345Q,SNP,SNVindel,exonic,SREK1,NA,synonymous SNV,"SREK1:NM_001077199:exon8:c.G1035A:p.Q345Q,SREK1:NM_001323529:exon8:c.G1035A:p.Q345Q,SREK1:NM_001323533:exon8:c.G1035A:p.Q345Q,SREK1:NM_001323535:exon8:c.G240A:p.Q80Q,SREK1:NM_001270492:exon9:c.G687A:p.Q229Q,SREK1:NM_001323527:exon9:c.G687A:p.Q229Q,SREK1:NM_001323534:exon9:c.G240A:p.Q80Q,SREK1:NM_139168:exon9:c.G687A:p.Q229Q",NA,NA,NA,NA,NA,NA
chr5,66461376,66461376,G,A,R007_S,MAST4,Silent,NM_001290227,exon26,c.G5586A,p.E1862E,SNP,SNVindel,exonic,MAST4,NA,synonymous SNV,"MAST4:NM_001290227:exon26:c.G5586A:p.E1862E,MAST4:NM_001297651:exon26:c.G5787A:p.E1929E,MAST4:NM_001290226:exon27:c.G5751A:p.E1917E,MAST4:NM_015183:exon28:c.G5802A:p.E1934E,MAST4:NM_001164664:exon29:c.G6369A:p.E2123E",NA,NA,NA,NA,NA,NA
chr5,66478827,66478827,C,T,R007_S,CD180,Missense_Mutation,NM_005582,exon3,c.G1844A,p.G615E,SNP,SNVindel,exonic,CD180,NA,nonsynonymous SNV,CD180:NM_005582:exon3:c.G1844A:p.G615E,D,D,D,T,D,T
chr5,66480026,66480026,C,T,R007_S,CD180,Silent,NM_005582,exon3,c.G645A,p.E215E,SNP,SNVindel,exonic,CD180,NA,synonymous SNV,CD180:NM_005582:exon3:c.G645A:p.E215E,NA,NA,NA,NA,NA,NA
chr5,68581237,68581237,G,A,R007_S,CCDC125,Missense_Mutation,NM_001297696,exon10,c.C979T,p.L327F,SNP,SNVindel,exonic,CCDC125,NA,nonsynonymous SNV,"CCDC125:NM_001297696:exon10:c.C979T:p.L327F,CCDC125:NM_176816:exon11:c.C1157T:p.P386L,CCDC125:NM_001297697:exon12:c.C782T:p.P261L",T,N,D,T,D,T
chr5,68616222,68616222,C,T,R007_S,CCDC125,Missense_Mutation,NM_001297696,exon2,c.G146A,p.R49K,SNP,SNVindel,exonic,CCDC125,NA,nonsynonymous SNV,"CCDC125:NM_001297696:exon2:c.G146A:p.R49K,CCDC125:NM_176816:exon2:c.G146A:p.R49K",T,N,D,T,N,T
chr5,68715653,68715653,G,A,R007_S,MARVELD2,Silent,NM_001038603,exon2,c.G441A,p.R147R,SNP,SNVindel,exonic,MARVELD2,NA,synonymous SNV,"MARVELD2:NM_001038603:exon2:c.G441A:p.R147R,MARVELD2:NM_001244734:exon2:c.G441A:p.R147R",NA,NA,NA,NA,NA,NA
chr5,71496110,71496110,G,A,R007_S,MAP1B,Missense_Mutation,NM_001324255,exon4,c.G6550A,p.A2184T,SNP,SNVindel,exonic,MAP1B,NA,nonsynonymous SNV,"MAP1B:NM_001324255:exon4:c.G6550A:p.A2184T,MAP1B:NM_005909:exon5:c.G6928A:p.A2310T",D,N,D,T,N,T
chr5,71739766,71739766,C,T,R007_S,ZNF366,Silent,NM_152625,exon5,c.G2052A,p.G684G,SNP,SNVindel,exonic,ZNF366,NA,synonymous SNV,ZNF366:NM_152625:exon5:c.G2052A:p.G684G,NA,NA,NA,NA,NA,NA
chr5,72851361,72851361,C,T,R007_S,ANKRA2,Nonsense_Mutation,NM_023039,exon5,c.G564A,p.W188X,SNP,SNVindel,exonic,ANKRA2,NA,stopgain,ANKRA2:NM_023039:exon5:c.G564A:p.W188X,.,D,A,.,.,.
chr5,73931430,73931430,C,T,R007_S,ENC1,Missense_Mutation,NM_001256576,exon2,c.G662A,p.G221D,SNP,SNVindel,exonic,ENC1,NA,nonsynonymous SNV,"ENC1:NM_001256576:exon2:c.G662A:p.G221D,ENC1:NM_003633:exon2:c.G881A:p.G294D,ENC1:NM_001256574:exon3:c.G881A:p.G294D,ENC1:NM_001256575:exon3:c.G881A:p.G294D",D,D,D,T,N,T
chr5,73985240,73985240,C,T,R007_S,HEXB,Silent,NM_000521,exon2,c.C387T,p.V129V,SNP,SNVindel,exonic,HEXB,NA,synonymous SNV,HEXB:NM_000521:exon2:c.C387T:p.V129V,NA,NA,NA,NA,NA,NA
chr5,74032611,74032611,C,T,R007_S,GFM2,Missense_Mutation,NM_170681,exon15,c.G1520A,p.G507D,SNP,SNVindel,exonic,GFM2,NA,nonsynonymous SNV,GFM2:NM_170681:exon15:c.G1520A:p.G507D,D,.,N,T,N,T
chr5,74091956,74091956,G,A,R007_S,FAM169A,Missense_Mutation,NM_015566,exon11,c.C1159T,p.P387S,SNP,SNVindel,exonic,FAM169A,NA,nonsynonymous SNV,FAM169A:NM_015566:exon11:c.C1159T:p.P387S,T,N,N,T,N,T
chr5,74412479,74412479,C,T,R007_S,ANKRD31,Missense_Mutation,NM_001164443,exon18,c.G3896A,p.R1299K,SNP,SNVindel,exonic,ANKRD31,NA,nonsynonymous SNV,ANKRD31:NM_001164443:exon18:c.G3896A:p.R1299K,T,.,N,T,N,T
chr5,74434749,74434749,C,T,R007_S,ANKRD31,Missense_Mutation,NM_001164443,exon15,c.G3484A,p.A1162T,SNP,SNVindel,exonic,ANKRD31,NA,nonsynonymous SNV,ANKRD31:NM_001164443:exon15:c.G3484A:p.A1162T,D,.,N,T,D,D
chr5,74675238,74675238,G,A,R007_S,CERT1,Missense_Mutation,NM_031361,exon16,c.C1730T,p.P577L,SNP,SNVindel,exonic,CERT1,NA,nonsynonymous SNV,"CERT1:NM_031361:exon16:c.C1730T:p.P577L,CERT1:NM_005713:exon17:c.C1808T:p.P603L,CERT1:NM_001130105:exon18:c.C2192T:p.P731L",D,D,D,T,D,D
chr5,75954370,75954370,G,A,R007_S,IQGAP2,Missense_Mutation,NM_001285461,exon9,c.G895A,p.E299K,SNP,SNVindel,exonic,IQGAP2,NA,nonsynonymous SNV,"IQGAP2:NM_001285461:exon9:c.G895A:p.E299K,IQGAP2:NM_001285462:exon9:c.G895A:p.E299K,IQGAP2:NM_001285460:exon20:c.G2257A:p.E753K,IQGAP2:NM_006633:exon21:c.G2407A:p.E803K",D,N,D,T,D,T
chr5,75993898,75993898,G,A,R007_S,IQGAP2,Silent,NM_001285461,exon21,c.G2781A,p.K927K,SNP,SNVindel,exonic,IQGAP2,NA,synonymous SNV,"IQGAP2:NM_001285461:exon21:c.G2781A:p.K927K,IQGAP2:NM_001285462:exon21:c.G2781A:p.K927K,IQGAP2:NM_001285460:exon32:c.G4143A:p.K1381K,IQGAP2:NM_006633:exon33:c.G4293A:p.K1431K",NA,NA,NA,NA,NA,NA
chr5,75998377,75998377,C,T,R007_S,IQGAP2,Missense_Mutation,NM_001285461,exon23,c.C3064T,p.L1022F,SNP,SNVindel,exonic,IQGAP2,NA,nonsynonymous SNV,"IQGAP2:NM_001285461:exon23:c.C3064T:p.L1022F,IQGAP2:NM_001285462:exon23:c.C3064T:p.L1022F,IQGAP2:NM_001285460:exon34:c.C4426T:p.L1476F,IQGAP2:NM_006633:exon35:c.C4576T:p.L1526F",D,D,D,T,N,T
chr5,76342469,76342469,G,A,R007_S,AGGF1,Missense_Mutation,NM_018046,exon6,c.G1168A,p.G390S,SNP,SNVindel,exonic,AGGF1,NA,nonsynonymous SNV,AGGF1:NM_018046:exon6:c.G1168A:p.G390S,T,N,N,T,N,T
chr5,76728990,76728990,C,T,R007_S,WDR41,Silent,NM_018268,exon13,c.G1350A,p.E450E,SNP,SNVindel,exonic,WDR41,NA,synonymous SNV,WDR41:NM_018268:exon13:c.G1350A:p.E450E,NA,NA,NA,NA,NA,NA
chr5,78350114,78350114,C,T,R007_S,DMGDH,Missense_Mutation,NM_013391,exon4,c.G433A,p.D145N,SNP,SNVindel,exonic,DMGDH,NA,nonsynonymous SNV,DMGDH:NM_013391:exon4:c.G433A:p.D145N,D,D,D,D,D,D
chr5,79027208,79027208,G,A,R007_S,CMYA5,Missense_Mutation,NM_153610,exon2,c.G2620A,p.A874T,SNP,SNVindel,exonic,CMYA5,NA,nonsynonymous SNV,CMYA5:NM_153610:exon2:c.G2620A:p.A874T,T,N,N,T,N,T
chr5,79028790,79028790,C,T,R007_S,CMYA5,Missense_Mutation,NM_153610,exon2,c.C4202T,p.P1401L,SNP,SNVindel,exonic,CMYA5,NA,nonsynonymous SNV,CMYA5:NM_153610:exon2:c.C4202T:p.P1401L,D,N,N,T,D,T
chr5,79030426,79030426,C,T,R007_S,CMYA5,Silent,NM_153610,exon2,c.C5838T,p.V1946V,SNP,SNVindel,exonic,CMYA5,NA,synonymous SNV,CMYA5:NM_153610:exon2:c.C5838T:p.V1946V,NA,NA,NA,NA,NA,NA
chr5,79030735,79030735,G,A,R007_S,CMYA5,Silent,NM_153610,exon2,c.G6147A,p.Q2049Q,SNP,SNVindel,exonic,CMYA5,NA,synonymous SNV,CMYA5:NM_153610:exon2:c.G6147A:p.Q2049Q,NA,NA,NA,NA,NA,NA
chr5,79286434,79286434,G,A,R007_S,MTX3,Missense_Mutation,NM_001010891,exon2,c.C134T,p.T45I,SNP,SNVindel,exonic,MTX3,NA,nonsynonymous SNV,"MTX3:NM_001010891:exon2:c.C134T:p.T45I,MTX3:NM_001363818:exon2:c.C134T:p.T45I",D,D,D,T,D,T
chr5,79616101,79616101,C,T,R007_S,SPZ1,Missense_Mutation,NM_032567,exon1,c.C67T,p.P23S,SNP,SNVindel,exonic,SPZ1,NA,nonsynonymous SNV,SPZ1:NM_032567:exon1:c.C67T:p.P23S,T,N,N,T,N,T
chr5,79855055,79855055,C,T,R007_S,ANKRD34B,Missense_Mutation,NM_001004441,exon5,c.G784A,p.A262T,SNP,SNVindel,exonic,ANKRD34B,NA,nonsynonymous SNV,ANKRD34B:NM_001004441:exon5:c.G784A:p.A262T,T,N,N,T,N,T
chr5,79966026,79966026,G,A,R007_S,MSH3,Silent,NM_002439,exon4,c.G690A,p.T230T,SNP,SNVindel,exonic,MSH3,NA,synonymous SNV,MSH3:NM_002439:exon4:c.G690A:p.T230T,NA,NA,NA,NA,NA,NA
chr5,80547053,80547053,G,A,R007_S,CKMT2,Silent,NM_001099735,exon2,c.G102A,p.R34R,SNP,SNVindel,exonic,CKMT2,NA,synonymous SNV,"CKMT2:NM_001099735:exon2:c.G102A:p.R34R,CKMT2:NM_001099736:exon2:c.G102A:p.R34R,CKMT2:NM_001825:exon3:c.G102A:p.R34R",NA,NA,NA,NA,NA,NA
chr5,80550907,80550907,C,T,R007_S,CKMT2,Silent,NM_001099735,exon5,c.C543T,p.T181T,SNP,SNVindel,exonic,CKMT2,NA,synonymous SNV,"CKMT2:NM_001099735:exon5:c.C543T:p.T181T,CKMT2:NM_001099736:exon5:c.C543T:p.T181T,CKMT2:NM_001825:exon6:c.C543T:p.T181T",NA,NA,NA,NA,NA,NA
chr5,80643732,80643732,C,T,R007_S,ACOT12,Missense_Mutation,NM_130767,exon6,c.G514A,p.E172K,SNP,SNVindel,exonic,ACOT12,NA,nonsynonymous SNV,ACOT12:NM_130767:exon6:c.G514A:p.E172K,T,N,D,T,N,T
chr5,81573530,81573530,C,T,R007_S,RPS23,Missense_Mutation,NM_001025,exon2,c.G146A,p.G49E,SNP,SNVindel,exonic,RPS23,NA,nonsynonymous SNV,RPS23:NM_001025:exon2:c.G146A:p.G49E,D,N,D,.,D,D
chr5,82836270,82836270,C,T,R007_S,VCAN,Missense_Mutation,NM_001164097,exon7,c.C4487T,p.P1496L,SNP,SNVindel,exonic,VCAN,NA,nonsynonymous SNV,"VCAN:NM_001164097:exon7:c.C4487T:p.P1496L,VCAN:NM_004385:exon8:c.C7448T:p.P2483L",D,N,N,T,D,T
chr5,82940454,82940454,C,T,R007_S,HAPLN1,Missense_Mutation,NM_001884,exon4,c.G503A,p.G168E,SNP,SNVindel,exonic,HAPLN1,NA,nonsynonymous SNV,HAPLN1:NM_001884:exon4:c.G503A:p.G168E,D,D,D,T,D,T
chr5,93739407,93739407,T,C,R007_S,KIAA0825,Silent,NM_001145678,exon16,c.A2754G,p.V918V,SNP,SNVindel,exonic,KIAA0825,NA,synonymous SNV,KIAA0825:NM_001145678:exon16:c.A2754G:p.V918V,NA,NA,NA,NA,NA,NA
chr5,94805518,94805518,C,T,R007_S,TTC37,Missense_Mutation,NM_014639,exon41,c.G4462A,p.A1488T,SNP,SNVindel,exonic,TTC37,NA,nonsynonymous SNV,TTC37:NM_014639:exon41:c.G4462A:p.A1488T,D,D,D,D,N,D
chr5,94852100,94852100,C,T,R007_S,TTC37,Nonsense_Mutation,NM_014639,exon25,c.G2591A,p.W864X,SNP,SNVindel,exonic,TTC37,NA,stopgain,TTC37:NM_014639:exon25:c.G2591A:p.W864X,.,D,A,.,.,.
chr5,95255142,95255142,C,T,R007_S,ELL2,Silent,NM_012081,exon3,c.G303A,p.Q101Q,SNP,SNVindel,exonic,ELL2,NA,synonymous SNV,ELL2:NM_012081:exon3:c.G303A:p.Q101Q,NA,NA,NA,NA,NA,NA
chr5,95735719,95735719,C,T,R007_S,PCSK1,Silent,NM_000439,exon10,c.G1368A,p.R456R,SNP,SNVindel,exonic,PCSK1,NA,synonymous SNV,"PCSK1:NM_000439:exon10:c.G1368A:p.R456R,PCSK1:NM_001177875:exon10:c.G1227A:p.R409R",NA,NA,NA,NA,NA,NA
chr5,96103669,96103669,C,T,R007_S,CAST,Missense_Mutation,NM_001042446,exon24,c.C1823T,p.P608L,SNP,SNVindel,exonic,CAST,NA,nonsynonymous SNV,"CAST:NM_001042446:exon24:c.C1823T:p.P608L,CAST:NM_001284213:exon24:c.C1769T:p.P590L,CAST:NM_001330630:exon24:c.C1820T:p.P607L,CAST:NM_001042444:exon25:c.C1862T:p.P621L,CAST:NM_001042445:exon25:c.C1880T:p.P627L,CAST:NM_001284212:exon25:c.C1859T:p.P620L,CAST:NM_001330634:exon25:c.C1889T:p.P630L,CAST:NM_001330631:exon26:c.C1946T:p.P649L,CAST:NM_001330632:exon26:c.C1916T:p.P639L,CAST:NM_001330633:exon26:c.C1928T:p.P643L,CAST:NM_173060:exon26:c.C1919T:p.P640L,CAST:NM_001042440:exon27:c.C2111T:p.P704L,CAST:NM_001042443:exon27:c.C1985T:p.P662L,CAST:NM_001330626:exon27:c.C2138T:p.P713L,CAST:NM_001330627:exon27:c.C2108T:p.P703L,CAST:NM_001330628:exon27:c.C2066T:p.P689L,CAST:NM_001042441:exon28:c.C2177T:p.P726L,CAST:NM_001190442:exon28:c.C1946T:p.P649L,CAST:NM_001330629:exon28:c.C2150T:p.P717L,CAST:NM_001042442:exon29:c.C2168T:p.P723L,CAST:NM_001750:exon29:c.C2234T:p.P745L",D,N,N,T,D,T
chr5,96430474,96430474,G,A,R007_S,LIX1,Missense_Mutation,NM_153234,exon6,c.C827T,p.T276M,SNP,SNVindel,exonic,LIX1,NA,nonsynonymous SNV,LIX1:NM_153234:exon6:c.C827T:p.T276M,D,N,N,T,N,T
chr5,96513447,96513447,C,T,R007_S,RIOK2,Missense_Mutation,NM_001159749,exon3,c.G311A,p.G104D,SNP,SNVindel,exonic,RIOK2,NA,nonsynonymous SNV,"RIOK2:NM_001159749:exon3:c.G311A:p.G104D,RIOK2:NM_018343:exon3:c.G311A:p.G104D",D,D,D,T,D,D
chr5,98128857,98128857,C,T,R007_S,RGMB,Silent,NM_001366508,exon3,c.C714T,p.D238D,SNP,SNVindel,exonic,RGMB,NA,synonymous SNV,"RGMB:NM_001366508:exon3:c.C714T:p.D238D,RGMB:NM_001012761:exon5:c.C837T:p.D279D,RGMB:NM_001366509:exon5:c.C837T:p.D279D,RGMB:NM_001366510:exon5:c.C837T:p.D279D,RGMB:NM_001366511:exon5:c.C834T:p.D278D",.,.,D,.,.,.
chr5,102432245,102432245,C,T,R007_S,GIN1,Missense_Mutation,NM_001317954,exon6,c.G853A,p.E285K,SNP,SNVindel,exonic,GIN1,NA,nonsynonymous SNV,"GIN1:NM_001317954:exon6:c.G853A:p.E285K,GIN1:NM_017676:exon7:c.G1294A:p.E432K",T,U,D,T,N,T
chr5,109049311,109049311,G,A,R007_S,MAN2A1,Missense_Mutation,NM_002372,exon2,c.G226A,p.V76I,SNP,SNVindel,exonic,MAN2A1,NA,nonsynonymous SNV,MAN2A1:NM_002372:exon2:c.G226A:p.V76I,T,N,D,T,N,T
chr5,112769693,112769693,C,T,R007_S,TSSK1B,Missense_Mutation,NM_032028,exon1,c.G844A,p.V282M,SNP,SNVindel,exonic,TSSK1B,NA,nonsynonymous SNV,TSSK1B:NM_032028:exon1:c.G844A:p.V282M,D,U,N,T,N,T
chr5,114879121,114879121,C,T,R007_S,FEM1C,Missense_Mutation,NM_020177,exon2,c.G70A,p.A24T,SNP,SNVindel,exonic,FEM1C,NA,nonsynonymous SNV,FEM1C:NM_020177:exon2:c.G70A:p.A24T,T,D,D,T,N,T
chr5,118407287,118407287,C,T,R007_S,DMXL1,Missense_Mutation,NM_001290321,exon1,c.C23T,p.T8I,SNP,SNVindel,exonic,DMXL1,NA,nonsynonymous SNV,"DMXL1:NM_001290321:exon1:c.C23T:p.T8I,DMXL1:NM_005509:exon1:c.C23T:p.T8I,DMXL1:NM_001349239:exon2:c.C23T:p.T8I,DMXL1:NM_001349240:exon2:c.C23T:p.T8I",D,D,D,T,D,T
chr5,118482973,118482973,G,A,R007_S,DMXL1,Missense_Mutation,NM_001290321,exon17,c.G2719A,p.A907T,SNP,SNVindel,exonic,DMXL1,NA,nonsynonymous SNV,"DMXL1:NM_001290321:exon17:c.G2719A:p.A907T,DMXL1:NM_001290322:exon17:c.G2200A:p.A734T,DMXL1:NM_005509:exon17:c.G2719A:p.A907T,DMXL1:NM_001349239:exon18:c.G2719A:p.A907T,DMXL1:NM_001349240:exon18:c.G2719A:p.A907T",T,N,D,T,N,T
chr5,118582817,118582817,C,T,R007_S,DMXL1,Missense_Mutation,NM_001290322,exon43,c.C8468T,p.S2823F,SNP,SNVindel,exonic,DMXL1,NA,nonsynonymous SNV,"DMXL1:NM_001290322:exon43:c.C8468T:p.S2823F,DMXL1:NM_005509:exon43:c.C8987T:p.S2996F,DMXL1:NM_001290321:exon44:c.C9050T:p.S3017F,DMXL1:NM_001349240:exon44:c.C8987T:p.S2996F,DMXL1:NM_001349239:exon45:c.C9050T:p.S3017F",D,N,D,T,D,T
chr5,119800236,119800236,C,T,R007_S,PRR16,Missense_Mutation,NM_001300783,exon1,c.C55T,p.P19S,SNP,SNVindel,exonic,PRR16,NA,nonsynonymous SNV,PRR16:NM_001300783:exon1:c.C55T:p.P19S,T,.,D,T,N,T
chr5,121488608,121488608,C,T,R007_S,ZNF474,Missense_Mutation,NM_207317,exon2,c.C923T,p.T308I,SNP,SNVindel,exonic,ZNF474,NA,nonsynonymous SNV,ZNF474:NM_207317:exon2:c.C923T:p.T308I,D,U,N,T,N,T
chr5,123980303,123980303,C,T,R007_S,ZNF608,Missense_Mutation,NM_020747,exon5,c.G3757A,p.D1253N,SNP,SNVindel,exonic,ZNF608,NA,nonsynonymous SNV,ZNF608:NM_020747:exon5:c.G3757A:p.D1253N,D,N,D,T,N,T
chr5,123982540,123982540,C,T,R007_S,ZNF608,Silent,NM_020747,exon4,c.G3537A,p.E1179E,SNP,SNVindel,exonic,ZNF608,NA,synonymous SNV,ZNF608:NM_020747:exon4:c.G3537A:p.E1179E,NA,NA,NA,NA,NA,NA
chr5,123984677,123984677,C,T,R007_S,ZNF608,Missense_Mutation,NM_020747,exon4,c.G1400A,p.G467E,SNP,SNVindel,exonic,ZNF608,NA,nonsynonymous SNV,ZNF608:NM_020747:exon4:c.G1400A:p.G467E,D,D,D,T,N,T
chr5,125968305,125968305,C,T,R007_S,TEX43,Missense_Mutation,NM_207408,exon2,c.C154T,p.P52S,SNP,SNVindel,exonic,TEX43,NA,nonsynonymous SNV,TEX43:NM_207408:exon2:c.C154T:p.P52S,D,N,D,.,N,T
chr5,127474359,127474359,C,T,R007_S,SLC12A2,Silent,NM_001046,exon8,c.C1479T,p.I493I,SNP,SNVindel,exonic,SLC12A2,NA,synonymous SNV,"SLC12A2:NM_001046:exon8:c.C1479T:p.I493I,SLC12A2:NM_001256461:exon8:c.C1479T:p.I493I",NA,NA,NA,NA,NA,NA
chr5,130778223,130778223,C,T,R007_S,RAPGEF6,Silent,NM_001164389,exon23,c.G3429A,p.K1143K,SNP,SNVindel,exonic,RAPGEF6,NA,synonymous SNV,"RAPGEF6:NM_001164389:exon23:c.G3429A:p.K1143K,RAPGEF6:NM_016340:exon23:c.G3429A:p.K1143K,RAPGEF6:NM_001164386:exon24:c.G3453A:p.K1151K,RAPGEF6:NM_001164388:exon24:c.G3453A:p.K1151K,RAPGEF6:NM_001164387:exon25:c.G3468A:p.K1156K",NA,NA,NA,NA,NA,NA
chr5,131007223,131007223,C,T,R007_S,FNIP1,Missense_Mutation,NM_001008738,exon13,c.G2830A,p.E944K,SNP,SNVindel,exonic,FNIP1,NA,nonsynonymous SNV,"FNIP1:NM_001008738:exon13:c.G2830A:p.E944K,FNIP1:NM_001346114:exon13:c.G2779A:p.E927K,FNIP1:NM_133372:exon14:c.G2914A:p.E972K",T,.,D,T,N,T
chr5,131329847,131329847,G,A,R007_S,ACSL6,Silent,NM_001009185,exon2,c.C147T,p.S49S,SNP,SNVindel,exonic,ACSL6,NA,synonymous SNV,"ACSL6:NM_001009185:exon2:c.C147T:p.S49S,ACSL6:NM_001205247:exon2:c.C147T:p.S49S,ACSL6:NM_001205248:exon2:c.C72T:p.S24S,ACSL6:NM_001205250:exon2:c.C105T:p.S35S,ACSL6:NM_001205251:exon2:c.C72T:p.S24S,ACSL6:NM_015256:exon2:c.C147T:p.S49S",NA,NA,NA,NA,NA,NA
chr5,132150131,132150131,G,A,R007_S,SOWAHA,Missense_Mutation,NM_175873,exon1,c.G818A,p.G273D,SNP,SNVindel,exonic,SOWAHA,NA,nonsynonymous SNV,SOWAHA:NM_175873:exon1:c.G818A:p.G273D,D,N,N,T,N,T
chr5,132150400,132150400,C,T,R007_S,SOWAHA,Silent,NM_175873,exon1,c.C1087T,p.L363L,SNP,SNVindel,exonic,SOWAHA,NA,synonymous SNV,SOWAHA:NM_175873:exon1:c.C1087T:p.L363L,NA,NA,NA,NA,NA,NA
chr5,132159859,132159859,G,A,R007_S,SHROOM1,Silent,NM_133456,exon4,c.C1494T,p.D498D,SNP,SNVindel,exonic,SHROOM1,NA,synonymous SNV,"SHROOM1:NM_133456:exon4:c.C1494T:p.D498D,SHROOM1:NM_001172700:exon7:c.C1494T:p.D498D",NA,NA,NA,NA,NA,NA
chr5,133309539,133309539,C,T,R007_S,VDAC1,Missense_Mutation,NM_003374,exon8,c.G703A,p.A235T,SNP,SNVindel,exonic,VDAC1,NA,nonsynonymous SNV,VDAC1:NM_003374:exon8:c.G703A:p.A235T,D,D,D,T,D,T
chr5,133747506,133747506,C,T,R007_S,CDKN2AIPNL,Missense_Mutation,NM_080656,exon1,c.G40A,p.V14I,SNP,SNVindel,exonic,CDKN2AIPNL,NA,nonsynonymous SNV,CDKN2AIPNL:NM_080656:exon1:c.G40A:p.V14I,T,N,N,.,N,T
chr5,134153296,134153296,G,A,R007_S,DDX46,Silent,NM_001300860,exon20,c.G2724A,p.K908K,SNP,SNVindel,exonic,DDX46,NA,synonymous SNV,"DDX46:NM_001300860:exon20:c.G2724A:p.K908K,DDX46:NM_014829:exon20:c.G2721A:p.K907K",NA,NA,NA,NA,NA,NA
chr5,134782682,134782682,C,T,R007_S,DCANP1,Silent,NM_130848,exon1,c.G117A,p.G39G,SNP,SNVindel,exonic,DCANP1,NA,synonymous SNV,DCANP1:NM_130848:exon1:c.G117A:p.G39G,NA,NA,NA,NA,NA,NA
chr5,135207404,135207404,G,A,R007_S,SLC25A48,Missense_Mutation,NM_001349336,exon5,c.G676A,p.A226T,SNP,SNVindel,exonic,SLC25A48,NA,nonsynonymous SNV,"SLC25A48:NM_001349336:exon5:c.G676A:p.A226T,SLC25A48:NM_001349335:exon8:c.G514A:p.A172T",D,N,D,D,D,D
chr5,135369453,135369453,C,T,R007_S,TGFBI,Missense_Mutation,NM_000358,exon2,c.C136T,p.P46S,SNP,SNVindel,exonic,TGFBI,NA,nonsynonymous SNV,TGFBI:NM_000358:exon2:c.C136T:p.P46S,D,D,D,D,D,D
chr5,135392447,135392447,C,T,R007_S,TGFBI,Silent,NM_000358,exon12,c.C1641T,p.F547F,SNP,SNVindel,exonic,TGFBI,NA,synonymous SNV,TGFBI:NM_000358:exon12:c.C1641T:p.F547F,NA,NA,NA,NA,NA,NA
chr5,137089033,137089033,C,T,R007_S,HNRNPA0,Silent,NM_006805,exon1,c.G723A,p.S241S,SNP,SNVindel,exonic,HNRNPA0,NA,synonymous SNV,HNRNPA0:NM_006805:exon1:c.G723A:p.S241S,NA,NA,NA,NA,NA,NA
chr5,137211535,137211535,C,T,R007_S,MYOT,Missense_Mutation,NM_006790,exon3,c.C374T,p.A125V,SNP,SNVindel,exonic,MYOT,NA,nonsynonymous SNV,"MYOT:NM_006790:exon3:c.C374T:p.A125V,MYOT:NM_001300911:exon4:c.C29T:p.A10V",T,N,N,T,N,T
chr5,137474409,137474409,G,A,R007_S,NME5,Missense_Mutation,NM_003551,exon2,c.C61T,p.P21S,SNP,SNVindel,exonic,NME5,NA,nonsynonymous SNV,NME5:NM_003551:exon2:c.C61T:p.P21S,D,D,D,T,D,D
chr5,137802617,137802617,G,A,R007_S,EGR1,Missense_Mutation,NM_001964,exon2,c.G479A,p.G160D,SNP,SNVindel,exonic,EGR1,NA,nonsynonymous SNV,EGR1:NM_001964:exon2:c.G479A:p.G160D,D,D,D,T,D,T
chr5,137803502,137803502,C,T,R007_S,EGR1,Missense_Mutation,NM_001964,exon2,c.C1364T,p.T455I,SNP,SNVindel,exonic,EGR1,NA,nonsynonymous SNV,EGR1:NM_001964:exon2:c.C1364T:p.T455I,D,U,N,T,N,T
chr5,138643318,138643318,G,A,R007_S,MATR3,Missense_Mutation,NM_001194955,exon2,c.G214A,p.A72T,SNP,SNVindel,exonic,MATR3,NA,nonsynonymous SNV,"MATR3:NM_001194955:exon2:c.G214A:p.A72T,MATR3:NM_018834:exon2:c.G214A:p.A72T,MATR3:NM_001194954:exon4:c.G214A:p.A72T,MATR3:NM_199189:exon5:c.G214A:p.A72T",D,D,D,T,N,T
chr5,138739701,138739701,G,A,R007_S,SPATA24,Missense_Mutation,NM_194296,exon1,c.C49T,p.L17F,SNP,SNVindel,exonic,SPATA24,NA,nonsynonymous SNV,SPATA24:NM_194296:exon1:c.C49T:p.L17F,D,N,N,.,N,T
chr5,139741611,139741611,C,T,R007_S,SLC4A9,Missense_Mutation,NM_001258426,exon5,c.C571T,p.P191S,SNP,SNVindel,exonic,SLC4A9,NA,nonsynonymous SNV,"SLC4A9:NM_001258426:exon5:c.C571T:p.P191S,SLC4A9:NM_001258427:exon5:c.C571T:p.P191S,SLC4A9:NM_001258428:exon5:c.C643T:p.P215S,SLC4A9:NM_031467:exon5:c.C571T:p.P191S",T,N,D,T,N,T
chr5,139743690,139743690,C,T,R007_S,SLC4A9,Silent,NM_001258426,exon10,c.C1273T,p.L425L,SNP,SNVindel,exonic,SLC4A9,NA,synonymous SNV,"SLC4A9:NM_001258426:exon10:c.C1273T:p.L425L,SLC4A9:NM_001258427:exon10:c.C1306T:p.L436L,SLC4A9:NM_001258428:exon10:c.C1378T:p.L460L,SLC4A9:NM_031467:exon10:c.C1306T:p.L436L",NA,NA,NA,NA,NA,NA
chr5,139825443,139825443,G,A,R007_S,ANKHD1,Missense_Mutation,NM_001197030,exon6,c.G1030A,p.E344K,SNP,SNVindel,exonic,ANKHD1;ANKHD1-EIF4EBP3,NA,nonsynonymous SNV,"ANKHD1:NM_001197030:exon6:c.G1030A:p.E344K,ANKHD1:NM_017747:exon6:c.G1030A:p.E344K,ANKHD1:NM_017978:exon6:c.G997A:p.E333K,ANKHD1-EIF4EBP3:NM_020690:exon6:c.G1030A:p.E344K,ANKHD1:NM_024668:exon6:c.G1030A:p.E344K",T,D,D,T,D,T
chr5,139908659,139908659,C,T,R007_S,ANKHD1,Missense_Mutation,NM_017747,exon29,c.C6128T,p.T2043I,SNP,SNVindel,exonic,ANKHD1;ANKHD1-EIF4EBP3,NA,nonsynonymous SNV,"ANKHD1:NM_017747:exon29:c.C6128T:p.T2043I,ANKHD1-EIF4EBP3:NM_020690:exon29:c.C6128T:p.T2043I",T,N,N,T,N,T
chr5,139930379,139930379,C,T,R007_S,SRA1,Missense_Mutation,NM_001253764,exon3,c.G533A,p.R178K,SNP,SNVindel,exonic,SRA1,NA,nonsynonymous SNV,"SRA1:NM_001253764:exon3:c.G533A:p.R178K,SRA1:NM_001035235:exon5:c.G617A:p.R206K",T,N,D,T,N,T
chr5,140012148,140012148,C,T,R007_S,CD14,Missense_Mutation,NM_000591,exon2,c.G421A,p.G141R,SNP,SNVindel,exonic,CD14,NA,nonsynonymous SNV,"CD14:NM_000591:exon2:c.G421A:p.G141R,CD14:NM_001040021:exon3:c.G421A:p.G141R,CD14:NM_001174104:exon3:c.G421A:p.G141R,CD14:NM_001174105:exon3:c.G421A:p.G141R",D,N,N,T,D,T
chr5,140187388,140187388,C,T,R007_S,PCDHA4,Missense_Mutation,NM_018907,exon1,c.C616T,p.P206S,SNP,SNVindel,exonic,PCDHA4,NA,nonsynonymous SNV,"PCDHA4:NM_018907:exon1:c.C616T:p.P206S,PCDHA4:NM_031500:exon1:c.C616T:p.P206S",T,U,N,T,D,T
chr5,140187759,140187759,A,C,R007_S,PCDHA4,Silent,NM_018907,exon1,c.A987C,p.P329P,SNP,SNVindel,exonic,PCDHA4,NA,synonymous SNV,"PCDHA4:NM_018907:exon1:c.A987C:p.P329P,PCDHA4:NM_031500:exon1:c.A987C:p.P329P",NA,NA,NA,NA,NA,NA
chr5,140208335,140208335,C,T,R007_S,PCDHA6,Missense_Mutation,NM_018909,exon1,c.C659T,p.P220L,SNP,SNVindel,exonic,PCDHA6,NA,nonsynonymous SNV,"PCDHA6:NM_018909:exon1:c.C659T:p.P220L,PCDHA6:NM_031848:exon1:c.C659T:p.P220L,PCDHA6:NM_031849:exon1:c.C659T:p.P220L",D,U,D,T,D,D
chr5,140389516,140389516,C,T,R007_S,PCDHA1,Silent,NM_018898,exon4,c.C2886T,p.D962D,SNP,SNVindel,exonic,PCDHA1;PCDHA10;PCDHA11;PCDHA12;PCDHA13;PCDHA2;PCDHA3;PCDHA4;PCDHA5;PCDHA6;PCDHA7;PCDHA8;PCDHA9;PCDHAC1;PCDHAC2,NA,synonymous SNV,"PCDHAC1:NM_018898:exon4:c.C2886T:p.D962D,PCDHAC2:NM_018899:exon4:c.C3018T:p.D1006D,PCDHA1:NM_018900:exon4:c.C2847T:p.D949D,PCDHA10:NM_018901:exon4:c.C2841T:p.D947D,PCDHA11:NM_018902:exon4:c.C2844T:p.D948D,PCDHA12:NM_018903:exon4:c.C2820T:p.D940D,PCDHA13:NM_018904:exon4:c.C2847T:p.D949D,PCDHA2:NM_018905:exon4:c.C2841T:p.D947D,PCDHA3:NM_018906:exon4:c.C2847T:p.D949D,PCDHA4:NM_018907:exon4:c.C2838T:p.D946D,PCDHA5:NM_018908:exon4:c.C2805T:p.D935D,PCDHA6:NM_018909:exon4:c.C2847T:p.D949D,PCDHA7:NM_018910:exon4:c.C2808T:p.D936D,PCDHA8:NM_018911:exon4:c.C2847T:p.D949D,PCDHA1:NM_031411:exon4:c.C2055T:p.D685D,PCDHA6:NM_031849:exon4:c.C2055T:p.D685D,PCDHA9:NM_031857:exon4:c.C2847T:p.D949D,PCDHA10:NM_031860:exon4:c.C2052T:p.D684D",NA,NA,NA,NA,NA,NA
chr5,140558420,140558420,G,A,R007_S,PCDHB8,Missense_Mutation,NM_019120,exon1,c.G805A,p.D269N,SNP,SNVindel,exonic,PCDHB8,NA,nonsynonymous SNV,PCDHB8:NM_019120:exon1:c.G805A:p.D269N,D,.,D,T,D,D
chr5,140558776,140558776,G,A,R007_S,PCDHB8,Silent,NM_019120,exon1,c.G1161A,p.Q387Q,SNP,SNVindel,exonic,PCDHB8,NA,synonymous SNV,PCDHB8:NM_019120:exon1:c.G1161A:p.Q387Q,NA,NA,NA,NA,NA,NA
chr5,140573221,140573221,G,A,R007_S,PCDHB10,Missense_Mutation,NM_018930,exon1,c.G1096A,p.A366T,SNP,SNVindel,exonic,PCDHB10,NA,nonsynonymous SNV,PCDHB10:NM_018930:exon1:c.G1096A:p.A366T,T,.,D,T,D,T
chr5,140580531,140580531,C,T,R007_S,PCDHB11,Missense_Mutation,NM_018931,exon1,c.C1184T,p.S395F,SNP,SNVindel,exonic,PCDHB11,NA,nonsynonymous SNV,PCDHB11:NM_018931:exon1:c.C1184T:p.S395F,D,.,N,T,D,T
chr5,140588522,140588522,C,T,R007_S,PCDHB12,Silent,NM_018932,exon1,c.C43T,p.L15L,SNP,SNVindel,exonic,PCDHB12,NA,synonymous SNV,PCDHB12:NM_018932:exon1:c.C43T:p.L15L,NA,NA,NA,NA,NA,NA
chr5,140594954,140594954,C,T,R007_S,PCDHB13,Missense_Mutation,NM_018933,exon1,c.C1259T,p.T420I,SNP,SNVindel,exonic,PCDHB13,NA,nonsynonymous SNV,PCDHB13:NM_018933:exon1:c.C1259T:p.T420I,D,.,D,T,D,T
chr5,140603699,140603699,C,T,R007_S,PCDHB14,Missense_Mutation,NM_018934,exon1,c.C622T,p.L208F,SNP,SNVindel,exonic,PCDHB14,NA,nonsynonymous SNV,PCDHB14:NM_018934:exon1:c.C622T:p.L208F,T,.,N,T,N,T
chr5,140626132,140626132,G,A,R007_S,PCDHB15,Missense_Mutation,NM_018935,exon1,c.G986A,p.G329E,SNP,SNVindel,exonic,PCDHB15,NA,nonsynonymous SNV,PCDHB15:NM_018935:exon1:c.G986A:p.G329E,D,.,N,T,D,T
chr5,140626374,140626374,G,A,R007_S,PCDHB15,Missense_Mutation,NM_018935,exon1,c.G1228A,p.D410N,SNP,SNVindel,exonic,PCDHB15,NA,nonsynonymous SNV,PCDHB15:NM_018935:exon1:c.G1228A:p.D410N,D,.,D,T,D,T
chr5,140682805,140682805,C,T,R007_S,SLC25A2,Missense_Mutation,NM_031947,exon1,c.G628A,p.V210I,SNP,SNVindel,exonic,SLC25A2,NA,nonsynonymous SNV,SLC25A2:NM_031947:exon1:c.G628A:p.V210I,T,N,D,T,N,T
chr5,140725268,140725268,C,T,R007_S,PCDHGA3,Silent,NM_018916,exon1,c.C1668T,p.N556N,SNP,SNVindel,exonic,PCDHGA3,NA,synonymous SNV,"PCDHGA3:NM_018916:exon1:c.C1668T:p.N556N,PCDHGA3:NM_032011:exon1:c.C1668T:p.N556N",NA,NA,NA,NA,NA,NA
chr5,140731477,140731477,C,T,R007_S,PCDHGB1,Silent,NM_018922,exon1,c.C1650T,p.D550D,SNP,SNVindel,exonic,PCDHGB1,NA,synonymous SNV,"PCDHGB1:NM_018922:exon1:c.C1650T:p.D550D,PCDHGB1:NM_032095:exon1:c.C1650T:p.D550D",NA,NA,NA,NA,NA,NA
chr5,140740875,140740875,G,A,R007_S,PCDHGB2,Silent,NM_018923,exon1,c.G1173A,p.K391K,SNP,SNVindel,exonic,PCDHGB2,NA,synonymous SNV,"PCDHGB2:NM_018923:exon1:c.G1173A:p.K391K,PCDHGB2:NM_032096:exon1:c.G1173A:p.K391K",NA,NA,NA,NA,NA,NA
chr5,140741751,140741751,C,T,R007_S,PCDHGB2,Silent,NM_018923,exon1,c.C2049T,p.D683D,SNP,SNVindel,exonic,PCDHGB2,NA,synonymous SNV,"PCDHGB2:NM_018923:exon1:c.C2049T:p.D683D,PCDHGB2:NM_032096:exon1:c.C2049T:p.D683D",NA,NA,NA,NA,NA,NA
chr5,140746104,140746104,C,T,R007_S,PCDHGA5,Missense_Mutation,NM_018918,exon1,c.C2207T,p.P736L,SNP,SNVindel,exonic,PCDHGA5,NA,nonsynonymous SNV,"PCDHGA5:NM_018918:exon1:c.C2207T:p.P736L,PCDHGA5:NM_032054:exon1:c.C2207T:p.P736L",D,.,N,T,D,T
chr5,140754042,140754042,C,T,R007_S,PCDHGA6,Missense_Mutation,NM_018919,exon1,c.C392T,p.P131L,SNP,SNVindel,exonic,PCDHGA6,NA,nonsynonymous SNV,"PCDHGA6:NM_018919:exon1:c.C392T:p.P131L,PCDHGA6:NM_032086:exon1:c.C392T:p.P131L",D,U,D,T,D,D
chr5,140778343,140778343,G,A,R007_S,PCDHGB5,Missense_Mutation,NM_018925,exon1,c.G649A,p.G217S,SNP,SNVindel,exonic,PCDHGB5,NA,nonsynonymous SNV,"PCDHGB5:NM_018925:exon1:c.G649A:p.G217S,PCDHGB5:NM_032099:exon1:c.G649A:p.G217S",.,.,D,.,.,.
chr5,140778357,140778357,C,T,R007_S,PCDHGB5,Silent,NM_018925,exon1,c.C663T,p.P221P,SNP,SNVindel,exonic,PCDHGB5,NA,synonymous SNV,"PCDHGB5:NM_018925:exon1:c.C663T:p.P221P,PCDHGB5:NM_032099:exon1:c.C663T:p.P221P",NA,NA,NA,NA,NA,NA
chr5,140779254,140779254,G,A,R007_S,PCDHGB5,Silent,NM_018925,exon1,c.G1560A,p.Q520Q,SNP,SNVindel,exonic,PCDHGB5,NA,synonymous SNV,"PCDHGB5:NM_018925:exon1:c.G1560A:p.Q520Q,PCDHGB5:NM_032099:exon1:c.G1560A:p.Q520Q",NA,NA,NA,NA,NA,NA
chr5,140799336,140799336,C,T,R007_S,PCDHGB7,Missense_Mutation,NM_018927,exon1,c.C1910T,p.S637L,SNP,SNVindel,exonic,PCDHGB7,NA,nonsynonymous SNV,"PCDHGB7:NM_018927:exon1:c.C1910T:p.S637L,PCDHGB7:NM_032101:exon1:c.C1910T:p.S637L",D,U,N,T,N,T
chr5,140870880,140870880,C,T,R007_S,PCDHGC5,Silent,NM_018929,exon1,c.C2073T,p.T691T,SNP,SNVindel,exonic,PCDHGC5,NA,synonymous SNV,"PCDHGC5:NM_018929:exon1:c.C2073T:p.T691T,PCDHGC5:NM_032407:exon1:c.C2073T:p.T691T",NA,NA,NA,NA,NA,NA
chr5,140953730,140953730,C,T,R007_S,DIAPH1,Missense_Mutation,NM_001079812,exon15,c.G1660A,p.A554T,SNP,SNVindel,exonic,DIAPH1,NA,nonsynonymous SNV,"DIAPH1:NM_001079812:exon15:c.G1660A:p.A554T,DIAPH1:NM_001314007:exon16:c.G1687A:p.A563T,DIAPH1:NM_005219:exon16:c.G1687A:p.A563T",D,N,D,T,N,T
chr5,141021287,141021287,C,T,R007_S,FCHSD1,Missense_Mutation,NM_033449,exon19,c.G1989A,p.M663I,SNP,SNVindel,exonic,FCHSD1,NA,nonsynonymous SNV,FCHSD1:NM_033449:exon19:c.G1989A:p.M663I,T,N,D,T,N,T
chr5,141307735,141307735,C,T,R007_S,DELE1,Missense_Mutation,NM_001142603,exon4,c.C284T,p.A95V,SNP,SNVindel,exonic,DELE1,NA,nonsynonymous SNV,"DELE1:NM_001142603:exon4:c.C284T:p.A95V,DELE1:NM_014773:exon4:c.C284T:p.A95V",T,D,D,T,N,T
chr5,141694498,141694498,G,A,R007_S,SPRY4,Missense_Mutation,NM_001127496,exon2,c.C176T,p.A59V,SNP,SNVindel,exonic,SPRY4,NA,nonsynonymous SNV,"SPRY4:NM_001127496:exon2:c.C176T:p.A59V,SPRY4:NM_001293290:exon2:c.C176T:p.A59V,SPRY4:NM_001293289:exon3:c.C176T:p.A59V,SPRY4:NM_030964:exon3:c.C245T:p.A82V",T,N,N,T,N,T
chr5,142526868,142526868,C,T,R007_S,ARHGAP26,Missense_Mutation,NM_001135608,exon20,c.C1910T,p.S637F,SNP,SNVindel,exonic,ARHGAP26,NA,nonsynonymous SNV,"ARHGAP26:NM_001135608:exon20:c.C1910T:p.S637F,ARHGAP26:NM_001349547:exon20:c.C1802T:p.S601F,ARHGAP26:NM_015071:exon20:c.C1910T:p.S637F",D,N,D,T,D,T
chr5,143853318,143853318,C,T,R007_S,KCTD16,Missense_Mutation,NM_001370486,exon3,c.C928T,p.L310F,SNP,SNVindel,exonic,KCTD16,NA,nonsynonymous SNV,"KCTD16:NM_001370486:exon3:c.C928T:p.L310F,KCTD16:NM_001370487:exon3:c.C928T:p.L310F,KCTD16:NM_020768:exon4:c.C928T:p.L310F",D,D,D,T,N,T
chr5,145509667,145509667,C,T,R007_S,LARS,Missense_Mutation,NM_001317964,exon24,c.G2404A,p.V802M,SNP,SNVindel,exonic,LARS,NA,nonsynonymous SNV,"LARS:NM_001317964:exon24:c.G2404A:p.V802M,LARS:NM_001317965:exon24:c.G2380A:p.V794M,LARS:NM_016460:exon24:c.G2461A:p.V821M,LARS:NM_020117:exon25:c.G2542A:p.V848M",D,D,D,T,N,T
chr5,145834834,145834834,C,T,R007_S,TCERG1,Missense_Mutation,NM_001040006,exon2,c.C275T,p.P92L,SNP,SNVindel,exonic,TCERG1,NA,nonsynonymous SNV,"TCERG1:NM_001040006:exon2:c.C275T:p.P92L,TCERG1:NM_006706:exon2:c.C275T:p.P92L",T,D,D,T,D,T
chr5,145838811,145838811,C,T,R007_S,TCERG1,Missense_Mutation,NM_001040006,exon4,c.C803T,p.P268L,SNP,SNVindel,exonic,TCERG1,NA,nonsynonymous SNV,"TCERG1:NM_001040006:exon4:c.C803T:p.P268L,TCERG1:NM_006706:exon4:c.C803T:p.P268L",D,N,D,T,N,T
chr5,147016588,147016588,C,T,R007_S,JAKMIP2,Silent,NM_001282282,exon10,c.G1428A,p.E476E,SNP,SNVindel,exonic,JAKMIP2,NA,synonymous SNV,"JAKMIP2:NM_001282282:exon10:c.G1428A:p.E476E,JAKMIP2:NM_001270934:exon11:c.G1554A:p.E518E,JAKMIP2:NM_001270941:exon11:c.G1554A:p.E518E,JAKMIP2:NM_014790:exon11:c.G1554A:p.E518E",NA,NA,NA,NA,NA,NA
chr5,148207005,148207005,C,T,R007_S,ADRB2,Missense_Mutation,NM_000024,exon1,c.C611T,p.S204F,SNP,SNVindel,exonic,ADRB2,NA,nonsynonymous SNV,ADRB2:NM_000024:exon1:c.C611T:p.S204F,D,D,D,T,D,D
chr5,149212279,149212279,G,A,R007_S,PPARGC1B,Missense_Mutation,NM_001172698,exon4,c.G526A,p.E176K,SNP,SNVindel,exonic,PPARGC1B,NA,nonsynonymous SNV,"PPARGC1B:NM_001172698:exon4:c.G526A:p.E176K,PPARGC1B:NM_001172699:exon4:c.G451A:p.E151K,PPARGC1B:NM_133263:exon5:c.G643A:p.E215K",D,D,D,T,N,T
chr5,149310714,149310714,C,T,R007_S,PDE6A,Silent,NM_000440,exon4,c.G735A,p.G245G,SNP,SNVindel,exonic,PDE6A,NA,synonymous SNV,PDE6A:NM_000440:exon4:c.G735A:p.G245G,NA,NA,NA,NA,NA,NA
chr5,149677052,149677052,C,T,R007_S,ARSI,Missense_Mutation,NM_001012301,exon2,c.G1435A,p.G479S,SNP,SNVindel,exonic,ARSI,NA,nonsynonymous SNV,ARSI:NM_001012301:exon2:c.G1435A:p.G479S,T,N,N,D,N,T
chr5,149753860,149753860,G,A,R007_S,TCOF1,Missense_Mutation,NM_000356,exon7,c.G763A,p.A255T,SNP,SNVindel,exonic,TCOF1,NA,nonsynonymous SNV,"TCOF1:NM_000356:exon7:c.G763A:p.A255T,TCOF1:NM_001135245:exon7:c.G763A:p.A255T,TCOF1:NM_001008657:exon8:c.G994A:p.A332T,TCOF1:NM_001135243:exon8:c.G994A:p.A332T,TCOF1:NM_001135244:exon8:c.G994A:p.A332T,TCOF1:NM_001195141:exon8:c.G994A:p.A332T",D,.,N,T,N,T
chr5,149758957,149758957,G,A,R007_S,TCOF1,Missense_Mutation,NM_000356,exon15,c.G2413A,p.E805K,SNP,SNVindel,exonic,TCOF1,NA,nonsynonymous SNV,"TCOF1:NM_000356:exon15:c.G2413A:p.E805K,TCOF1:NM_001135245:exon15:c.G2413A:p.E805K,TCOF1:NM_001008657:exon16:c.G2644A:p.E882K,TCOF1:NM_001135243:exon16:c.G2644A:p.E882K,TCOF1:NM_001135244:exon16:c.G2644A:p.E882K,TCOF1:NM_001195141:exon16:c.G2644A:p.E882K",T,N,N,T,N,T
chr5,150028658,150028658,C,T,R007_S,SYNPO,Missense_Mutation,NM_001109974,exon2,c.C821T,p.P274L,SNP,SNVindel,exonic,SYNPO,NA,nonsynonymous SNV,"SYNPO:NM_001109974:exon2:c.C821T:p.P274L,SYNPO:NM_007286:exon2:c.C821T:p.P274L,SYNPO:NM_001166208:exon3:c.C1553T:p.P518L,SYNPO:NM_001166209:exon3:c.C1553T:p.P518L",T,N,N,T,N,T
chr5,150519785,150519785,G,A,R007_S,ANXA6,Missense_Mutation,NM_001155,exon3,c.C38T,p.S13F,SNP,SNVindel,exonic,ANXA6,NA,nonsynonymous SNV,"ANXA6:NM_001155:exon3:c.C38T:p.S13F,ANXA6:NM_001363114:exon3:c.C38T:p.S13F",D,D,D,T,D,T
chr5,150666897,150666897,G,A,R007_S,SLC36A3,Silent,NM_181774,exon6,c.C618T,p.I206I,SNP,SNVindel,exonic,SLC36A3,NA,synonymous SNV,"SLC36A3:NM_181774:exon6:c.C618T:p.I206I,SLC36A3:NM_001145017:exon7:c.C741T:p.I247I",NA,NA,NA,NA,NA,NA
chr5,150947254,150947254,C,T,R007_S,FAT2,Silent,NM_001447,exon1,c.G1239A,p.G413G,SNP,SNVindel,exonic,FAT2,NA,synonymous SNV,FAT2:NM_001447:exon1:c.G1239A:p.G413G,NA,NA,NA,NA,NA,NA
chr5,153175128,153175128,G,A,R007_S,GRIA1,Missense_Mutation,NM_001114183,exon14,c.G2363A,p.G788E,SNP,SNVindel,exonic,GRIA1,NA,nonsynonymous SNV,"GRIA1:NM_001114183:exon14:c.G2363A:p.G788E,GRIA1:NM_001258022:exon14:c.G2393A:p.G798E,GRIA1:NM_001364167:exon14:c.G2156A:p.G719E,GRIA1:NM_001258020:exon15:c.G2078A:p.G693E,GRIA1:NM_001364166:exon15:c.G2390A:p.G797E",T,.,D,T,D,T
chr5,154193524,154193524,G,A,R007_S,LARP1,Silent,NM_001367715,exon18,c.G2343A,p.R781R,SNP,SNVindel,exonic,LARP1,NA,synonymous SNV,"LARP1:NM_001367715:exon18:c.G2343A:p.R781R,LARP1:NM_001367713:exon19:c.G2544A:p.R848R,LARP1:NM_001367716:exon19:c.G2445A:p.R815R,LARP1:NM_001367717:exon19:c.G2850A:p.R950R,LARP1:NM_001367718:exon19:c.G3060A:p.R1020R,LARP1:NM_001367719:exon19:c.G2544A:p.R848R,LARP1:NM_015315:exon19:c.G2928A:p.R976R,LARP1:NM_033551:exon19:c.G3159A:p.R1053R,LARP1:NM_001367714:exon20:c.G2544A:p.R848R",NA,NA,NA,NA,NA,NA
chr5,154395783,154395783,G,A,R007_S,KIF4B,Silent,NM_001099293,exon1,c.G2364A,p.R788R,SNP,SNVindel,exonic,KIF4B,NA,synonymous SNV,KIF4B:NM_001099293:exon1:c.G2364A:p.R788R,NA,NA,NA,NA,NA,NA
chr5,154396085,154396085,G,A,R007_S,KIF4B,Missense_Mutation,NM_001099293,exon1,c.G2666A,p.R889K,SNP,SNVindel,exonic,KIF4B,NA,nonsynonymous SNV,KIF4B:NM_001099293:exon1:c.G2666A:p.R889K,T,.,N,T,N,T
chr5,157162892,157162892,C,T,R007_S,THG1L,Missense_Mutation,NM_001317824,exon4,c.C181T,p.L61F,SNP,SNVindel,exonic,THG1L,NA,nonsynonymous SNV,"THG1L:NM_001317824:exon4:c.C181T:p.L61F,THG1L:NM_001317825:exon4:c.C202T:p.L68F,THG1L:NM_017872:exon4:c.C577T:p.L193F,THG1L:NM_001317826:exon5:c.C391T:p.L131F",D,D,D,T,D,D
chr5,159344236,159344236,C,T,R007_S,ADRA1B,Silent,NM_000679,exon1,c.C324T,p.L108L,SNP,SNVindel,exonic,ADRA1B,NA,synonymous SNV,ADRA1B:NM_000679:exon1:c.C324T:p.L108L,NA,NA,NA,NA,NA,NA
chr5,159659158,159659158,G,A,R007_S,FABP6,Missense_Mutation,NM_001445,exon2,c.G121A,p.V41M,SNP,SNVindel,exonic,FABP6,NA,nonsynonymous SNV,"FABP6:NM_001445:exon2:c.G121A:p.V41M,FABP6:NM_001040442:exon4:c.G268A:p.V90M,FABP6:NM_001130958:exon5:c.G268A:p.V90M",D,D,D,T,D,T
chr5,160059296,160059296,G,A,R007_S,ATP10B,Missense_Mutation,NM_001366652,exon12,c.C1460T,p.A487V,SNP,SNVindel,exonic,ATP10B,NA,nonsynonymous SNV,"ATP10B:NM_001366652:exon12:c.C1460T:p.A487V,ATP10B:NM_001366655:exon12:c.C1460T:p.A487V,ATP10B:NM_001366657:exon12:c.C1424T:p.A475V,ATP10B:NM_025153:exon13:c.C1460T:p.A487V",T,N,N,T,N,T
chr5,160061432,160061432,G,A,R007_S,ATP10B,Missense_Mutation,NM_001366658,exon7,c.C1226T,p.T409I,SNP,SNVindel,exonic,ATP10B,NA,nonsynonymous SNV,"ATP10B:NM_001366658:exon7:c.C1226T:p.T409I,ATP10B:NM_001366654:exon10:c.C1442T:p.T481I,ATP10B:NM_001366652:exon11:c.C1310T:p.T437I,ATP10B:NM_001366653:exon11:c.C1310T:p.T437I,ATP10B:NM_001366655:exon11:c.C1310T:p.T437I,ATP10B:NM_001366656:exon11:c.C1310T:p.T437I,ATP10B:NM_001366657:exon11:c.C1274T:p.T425I,ATP10B:NM_025153:exon12:c.C1310T:p.T437I",D,D,D,D,D,D
chr5,160112144,160112144,C,T,R007_S,ATP10B,Nonsense_Mutation,NM_001366658,exon1,c.G84A,p.W28X,SNP,SNVindel,exonic,ATP10B,NA,stopgain,ATP10B:NM_001366658:exon1:c.G84A:p.W28X,NA,NA,NA,NA,NA,NA
chr5,160886667,160886667,G,A,R007_S,GABRB2,Missense_Mutation,NM_000813,exon5,c.C421T,p.R141C,SNP,SNVindel,exonic,GABRB2,NA,nonsynonymous SNV,"GABRB2:NM_000813:exon5:c.C421T:p.R141C,GABRB2:NM_021911:exon5:c.C421T:p.R141C",D,D,D,T,D,D
chr5,162930424,162930424,G,A,R007_S,MAT2B,Missense_Mutation,NM_182796,exon1,c.G24A,p.M8I,SNP,SNVindel,exonic,MAT2B,NA,nonsynonymous SNV,MAT2B:NM_182796:exon1:c.G24A:p.M8I,T,.,N,T,N,T
chr5,166802222,166802222,C,T,R007_S,TENM2,Silent,NM_001122679,exon3,c.C246T,p.A82A,SNP,SNVindel,exonic,TENM2,NA,synonymous SNV,TENM2:NM_001122679:exon3:c.C246T:p.A82A,NA,NA,NA,NA,NA,NA
chr5,167622191,167622191,C,T,R007_S,TENM2,Missense_Mutation,NM_001080428,exon12,c.C2095T,p.L699F,SNP,SNVindel,exonic,TENM2,NA,nonsynonymous SNV,"TENM2:NM_001080428:exon12:c.C2095T:p.L699F,TENM2:NM_001368145:exon14:c.C2335T:p.L779F,TENM2:NM_001368146:exon14:c.C2308T:p.L770F,TENM2:NM_001122679:exon16:c.C2764T:p.L922F",D,D,D,D,N,D
chr5,167671427,167671427,C,T,R007_S,TENM2,Silent,NM_001080428,exon22,c.C4806T,p.V1602V,SNP,SNVindel,exonic,TENM2,NA,synonymous SNV,"TENM2:NM_001080428:exon22:c.C4806T:p.V1602V,TENM2:NM_001368145:exon24:c.C5046T:p.V1682V,TENM2:NM_001368146:exon25:c.C5040T:p.V1680V,TENM2:NM_001122679:exon27:c.C5496T:p.V1832V",NA,NA,NA,NA,NA,NA
chr5,167956959,167956959,C,T,R007_S,FBLL1,Silent,NM_001355274,exon1,c.C450T,p.N150N,SNP,SNVindel,exonic,FBLL1,NA,synonymous SNV,FBLL1:NM_001355274:exon1:c.C450T:p.N150N,NA,NA,NA,NA,NA,NA
chr5,168271653,168271653,C,T,R007_S,SLIT3,Missense_Mutation,NM_001271946,exon6,c.G493A,p.D165N,SNP,SNVindel,exonic,SLIT3,NA,nonsynonymous SNV,"SLIT3:NM_001271946:exon6:c.G493A:p.D165N,SLIT3:NM_003062:exon6:c.G493A:p.D165N",D,D,D,T,D,T
chr5,171303365,171303365,C,T,R007_S,FBXW11,Missense_Mutation,NM_033645,exon7,c.G980A,p.G327D,SNP,SNVindel,exonic,FBXW11,NA,nonsynonymous SNV,"FBXW11:NM_033645:exon7:c.G980A:p.G327D,FBXW11:NM_012300:exon8:c.G1082A:p.G361D,FBXW11:NM_033644:exon8:c.G1043A:p.G348D",D,D,D,T,D,D
chr5,171615014,171615014,G,A,R007_S,STK10,Silent,NM_005990,exon1,c.C33T,p.R11R,SNP,SNVindel,exonic,STK10,NA,synonymous SNV,STK10:NM_005990:exon1:c.C33T:p.R11R,NA,NA,NA,NA,NA,NA
chr5,171765919,171765919,C,T,R007_S,SH3PXD2B,Silent,NM_001017995,exon13,c.G2190A,p.P730P,SNP,SNVindel,exonic,SH3PXD2B,NA,synonymous SNV,SH3PXD2B:NM_001017995:exon13:c.G2190A:p.P730P,NA,NA,NA,NA,NA,NA
chr5,176025596,176025596,C,T,R007_S,GPRIN1,Missense_Mutation,NM_052899,exon2,c.G1240A,p.G414S,SNP,SNVindel,exonic,GPRIN1,NA,nonsynonymous SNV,GPRIN1:NM_052899:exon2:c.G1240A:p.G414S,T,N,N,T,N,T
chr5,176721081,176721081,G,A,R007_S,NSD1,Missense_Mutation,NM_022455,exon23,c.G6712A,p.E2238K,SNP,SNVindel,exonic,NSD1,NA,nonsynonymous SNV,"NSD1:NM_022455:exon23:c.G6712A:p.E2238K,NSD1:NM_001365684:exon24:c.G5905A:p.E1969K,NSD1:NM_172349:exon24:c.G5905A:p.E1969K",D,N,D,T,N,T
chr5,176827419,176827419,C,T,R007_S,PFN3,Silent,NM_001029886,exon1,c.G159A,p.G53G,SNP,SNVindel,exonic,PFN3,NA,synonymous SNV,PFN3:NM_001029886:exon1:c.G159A:p.G53G,NA,NA,NA,NA,NA,NA
chr5,176935404,176935404,C,T,R007_S,DOK3,Missense_Mutation,NM_001144875,exon3,c.G206A,p.R69Q,SNP,SNVindel,exonic,DOK3,NA,nonsynonymous SNV,"DOK3:NM_001144875:exon3:c.G206A:p.R69Q,DOK3:NM_001308235:exon3:c.G206A:p.R69Q,DOK3:NM_001308236:exon3:c.G206A:p.R69Q,DOK3:NM_024872:exon3:c.G374A:p.R125Q",T,N,D,T,D,T
chr5,177613604,177613604,G,A,R007_S,GMCL2,Missense_Mutation,NM_001358008,exon1,c.C697T,p.L233F,SNP,SNVindel,exonic,GMCL2,NA,nonsynonymous SNV,GMCL2:NM_001358008:exon1:c.C697T:p.L233F,NA,NA,NA,NA,NA,NA
chr5,177669376,177669376,C,T,R007_S,COL23A1,Missense_Mutation,NM_173465,exon26,c.G1460A,p.G487E,SNP,SNVindel,exonic,COL23A1,NA,nonsynonymous SNV,COL23A1:NM_173465:exon26:c.G1460A:p.G487E,D,D,D,D,D,D
chr5,177688741,177688741,C,T,R007_S,COL23A1,Silent,NM_173465,exon11,c.G684A,p.K228K,SNP,SNVindel,exonic,COL23A1,NA,synonymous SNV,COL23A1:NM_173465:exon11:c.G684A:p.K228K,NA,NA,NA,NA,NA,NA
chr5,178139578,178139578,C,T,R007_S,ZNF354A,Missense_Mutation,NM_001324339,exon4,c.G1175A,p.G392E,SNP,SNVindel,exonic,ZNF354A,NA,nonsynonymous SNV,"ZNF354A:NM_001324339:exon4:c.G1175A:p.G392E,ZNF354A:NM_005649:exon5:c.G1301A:p.G434E",D,N,D,T,D,T
chr5,178358772,178358772,C,T,R007_S,ZFP2,Missense_Mutation,NM_030613,exon5,c.C458T,p.T153I,SNP,SNVindel,exonic,ZFP2,NA,nonsynonymous SNV,ZFP2:NM_030613:exon5:c.C458T:p.T153I,D,N,N,T,D,T
chr5,178358857,178358857,C,T,R007_S,ZFP2,Silent,NM_030613,exon5,c.C543T,p.T181T,SNP,SNVindel,exonic,ZFP2,NA,synonymous SNV,ZFP2:NM_030613:exon5:c.C543T:p.T181T,NA,NA,NA,NA,NA,NA
chr5,178416098,178416098,C,T,R007_S,GRM6,Missense_Mutation,NM_000843,exon7,c.G1192A,p.E398K,SNP,SNVindel,exonic,GRM6,NA,nonsynonymous SNV,GRM6:NM_000843:exon7:c.G1192A:p.E398K,D,.,D,D,D,D
chr5,179143270,179143270,C,T,R007_S,CANX,Missense_Mutation,NM_001364001,exon6,c.C562T,p.P188S,SNP,SNVindel,exonic,CANX,NA,nonsynonymous SNV,"CANX:NM_001364001:exon6:c.C562T:p.P188S,CANX:NM_001364000:exon7:c.C562T:p.P188S,CANX:NM_001024649:exon8:c.C886T:p.P296S,CANX:NM_001363994:exon8:c.C991T:p.P331S,CANX:NM_001363996:exon8:c.C886T:p.P296S,CANX:NM_001363997:exon8:c.C886T:p.P296S,CANX:NM_001363998:exon8:c.C886T:p.P296S,CANX:NM_001363999:exon8:c.C886T:p.P296S,CANX:NM_001746:exon8:c.C886T:p.P296S,CANX:NM_001363993:exon9:c.C1048T:p.P350S,CANX:NM_001363995:exon9:c.C988T:p.P330S",T,D,D,T,D,T
chr5,179201569,179201569,C,T,R007_S,MAML1,Silent,NM_014757,exon5,c.C2742T,p.A914A,SNP,SNVindel,exonic,MAML1,NA,synonymous SNV,MAML1:NM_014757:exon5:c.C2742T:p.A914A,NA,NA,NA,NA,NA,NA
chr5,179260737,179260737,C,T,R007_S,SQSTM1,Missense_Mutation,NM_003900,exon7,c.C1120T,p.P374S,SNP,SNVindel,exonic,SQSTM1,NA,nonsynonymous SNV,"SQSTM1:NM_003900:exon7:c.C1120T:p.P374S,SQSTM1:NM_001142298:exon8:c.C868T:p.P290S,SQSTM1:NM_001142299:exon8:c.C868T:p.P290S",T,D,D,D,D,D
chr5,179290712,179290712,G,A,R007_S,TBC1D9B,Silent,NM_015043,exon21,c.C3438T,p.G1146G,SNP,SNVindel,exonic,TBC1D9B,NA,synonymous SNV,"TBC1D9B:NM_015043:exon21:c.C3438T:p.G1146G,TBC1D9B:NM_198868:exon22:c.C3489T:p.G1163G",NA,NA,NA,NA,NA,NA
chr5,180219420,180219420,C,T,R007_S,MGAT1,Silent,NM_001114619,exon2,c.G552A,p.K184K,SNP,SNVindel,exonic,MGAT1,NA,synonymous SNV,"MGAT1:NM_001114619:exon2:c.G552A:p.K184K,MGAT1:NM_001114620:exon2:c.G552A:p.K184K,MGAT1:NM_001364382:exon2:c.G552A:p.K184K,MGAT1:NM_001364383:exon2:c.G552A:p.K184K,MGAT1:NM_001364389:exon2:c.G552A:p.K184K,MGAT1:NM_001364390:exon2:c.G552A:p.K184K,MGAT1:NM_001364392:exon2:c.G552A:p.K184K,MGAT1:NM_002406:exon2:c.G552A:p.K184K,MGAT1:NM_001114617:exon3:c.G552A:p.K184K,MGAT1:NM_001114618:exon3:c.G552A:p.K184K,MGAT1:NM_001364377:exon3:c.G552A:p.K184K,MGAT1:NM_001364379:exon3:c.G552A:p.K184K,MGAT1:NM_001364380:exon3:c.G552A:p.K184K,MGAT1:NM_001364381:exon3:c.G552A:p.K184K,MGAT1:NM_001364384:exon3:c.G552A:p.K184K,MGAT1:NM_001364386:exon3:c.G552A:p.K184K,MGAT1:NM_001364387:exon3:c.G552A:p.K184K,MGAT1:NM_001364391:exon3:c.G552A:p.K184K,MGAT1:NM_001364393:exon3:c.G552A:p.K184K,MGAT1:NM_001364394:exon3:c.G552A:p.K184K,MGAT1:NM_001364395:exon3:c.G552A:p.K184K,MGAT1:NM_001364385:exon4:c.G552A:p.K184K,MGAT1:NM_001364388:exon4:c.G552A:p.K184K",NA,NA,NA,NA,NA,NA
chr5,180631925,180631925,C,T,R007_S,TRIM7,Silent,NM_033342,exon1,c.G186A,p.A62A,SNP,SNVindel,exonic,TRIM7,NA,synonymous SNV,"TRIM7:NM_033342:exon1:c.G186A:p.A62A,TRIM7:NM_203293:exon1:c.G186A:p.A62A",NA,NA,NA,NA,NA,NA
chr6,1313341,1313341,C,T,R007_S,FOXQ1,Silent,NM_033260,exon1,c.C402T,p.D134D,SNP,SNVindel,exonic,FOXQ1,NA,synonymous SNV,FOXQ1:NM_033260:exon1:c.C402T:p.D134D,NA,NA,NA,NA,NA,NA
chr6,1612148,1612148,G,A,R007_S,FOXC1,Missense_Mutation,NM_001453,exon1,c.G1468A,p.A490T,SNP,SNVindel,exonic,FOXC1,NA,nonsynonymous SNV,FOXC1:NM_001453:exon1:c.G1468A:p.A490T,T,U,N,D,N,T
chr6,2836404,2836404,C,T,R007_S,SERPINB1,Missense_Mutation,NM_030666,exon5,c.G505A,p.G169R,SNP,SNVindel,exonic,SERPINB1,NA,nonsynonymous SNV,SERPINB1:NM_030666:exon5:c.G505A:p.G169R,D,N,D,D,D,D
chr6,3154156,3154156,C,T,R007_S,TUBB2A,Missense_Mutation,NM_001069,exon4,c.G1279A,p.D427N,SNP,SNVindel,exonic,TUBB2A,NA,nonsynonymous SNV,"TUBB2A:NM_001069:exon4:c.G1279A:p.D427N,TUBB2A:NM_001310315:exon4:c.G1024A:p.D342N",.,U,D,T,N,T
chr6,3850398,3850398,C,T,R007_S,FAM50B,Missense_Mutation,NM_012135,exon2,c.C353T,p.S118F,SNP,SNVindel,exonic,FAM50B,NA,nonsynonymous SNV,FAM50B:NM_012135:exon2:c.C353T:p.S118F,D,U,N,.,D,T
chr6,4069752,4069752,C,T,R007_S,FAM217A,Silent,NM_173563,exon7,c.G705A,p.E235E,SNP,SNVindel,exonic,FAM217A,NA,synonymous SNV,FAM217A:NM_173563:exon7:c.G705A:p.E235E,NA,NA,NA,NA,NA,NA
chr6,4117649,4117649,C,T,R007_S,ECI2,Missense_Mutation,NM_001166010,exon9,c.G832A,p.A278T,SNP,SNVindel,exonic,ECI2,NA,nonsynonymous SNV,"ECI2:NM_001166010:exon9:c.G832A:p.A278T,ECI2:NM_006117:exon9:c.G832A:p.A278T,ECI2:NM_206836:exon9:c.G922A:p.A308T",D,D,D,T,D,D
chr6,4133941,4133941,G,A,R007_S,ECI2,Silent,NM_206836,exon2,c.C55T,p.L19L,SNP,SNVindel,exonic,ECI2,NA,synonymous SNV,ECI2:NM_206836:exon2:c.C55T:p.L19L,NA,NA,NA,NA,NA,NA
chr6,5004133,5004133,G,A,R007_S,RPP40,Missense_Mutation,NM_001286132,exon1,c.C104T,p.T35M,SNP,SNVindel,exonic,RPP40,NA,nonsynonymous SNV,"RPP40:NM_001286132:exon1:c.C104T:p.T35M,RPP40:NM_001286133:exon1:c.C104T:p.T35M,RPP40:NM_006638:exon1:c.C104T:p.T35M",D,N,N,T,N,T
chr6,7313308,7313308,G,A,R007_S,SSR1,Missense_Mutation,NM_001292008,exon1,c.C46T,p.P16S,SNP,SNVindel,exonic,SSR1,NA,nonsynonymous SNV,"SSR1:NM_001292008:exon1:c.C46T:p.P16S,SSR1:NM_003144:exon1:c.C46T:p.P16S",D,N,D,T,D,T
chr6,7562974,7562974,C,T,R007_S,DSP,Silent,NM_001008844,exon5,c.C687T,p.G229G,SNP,SNVindel,exonic,DSP,NA,synonymous SNV,"DSP:NM_001008844:exon5:c.C687T:p.G229G,DSP:NM_001319034:exon5:c.C687T:p.G229G,DSP:NM_004415:exon5:c.C687T:p.G229G",NA,NA,NA,NA,NA,NA
chr6,7571759,7571759,C,T,R007_S,DSP,Silent,NM_001008844,exon14,c.C1845T,p.A615A,SNP,SNVindel,exonic,DSP,NA,synonymous SNV,"DSP:NM_001008844:exon14:c.C1845T:p.A615A,DSP:NM_001319034:exon14:c.C1845T:p.A615A,DSP:NM_004415:exon14:c.C1845T:p.A615A",NA,NA,NA,NA,NA,NA
chr6,7584125,7584125,C,T,R007_S,DSP,Silent,NM_001008844,exon24,c.C4833T,p.F1611F,SNP,SNVindel,exonic,DSP,NA,synonymous SNV,"DSP:NM_001008844:exon24:c.C4833T:p.F1611F,DSP:NM_001319034:exon24:c.C5301T:p.F1767F,DSP:NM_004415:exon24:c.C6630T:p.F2210F",NA,NA,NA,NA,NA,NA
chr6,8417209,8417209,C,T,R007_S,SLC35B3,Missense_Mutation,NM_001370477,exon7,c.G704A,p.G235D,SNP,SNVindel,exonic,SLC35B3,NA,nonsynonymous SNV,"SLC35B3:NM_001370477:exon7:c.G704A:p.G235D,SLC35B3:NM_001370478:exon8:c.G797A:p.G266D,SLC35B3:NM_001370479:exon8:c.G797A:p.G266D,SLC35B3:NM_001142540:exon9:c.G893A:p.G298D,SLC35B3:NM_001142541:exon9:c.G893A:p.G298D,SLC35B3:NM_001370476:exon9:c.G893A:p.G298D,SLC35B3:NM_015948:exon9:c.G893A:p.G298D",D,N,D,T,D,T
chr6,10557226,10557226,G,A,R007_S,GCNT2,Silent,NM_001491,exon1,c.G570A,p.G190G,SNP,SNVindel,exonic,GCNT2,NA,synonymous SNV,GCNT2:NM_001491:exon1:c.G570A:p.G190G,NA,NA,NA,NA,NA,NA
chr6,10874817,10874817,T,C,R007_S,GCM2,Missense_Mutation,NM_004752,exon5,c.A932G,p.Q311R,SNP,SNVindel,exonic,GCM2,NA,nonsynonymous SNV,GCM2:NM_004752:exon5:c.A932G:p.Q311R,D,N,D,T,N,T
chr6,10875052,10875052,G,A,R007_S,GCM2,Missense_Mutation,NM_004752,exon5,c.C697T,p.P233S,SNP,SNVindel,exonic,GCM2,NA,nonsynonymous SNV,GCM2:NM_004752:exon5:c.C697T:p.P233S,T,N,D,T,N,T
chr6,11005684,11005684,C,T,R007_S,ELOVL2,Missense_Mutation,NM_017770,exon3,c.G176A,p.R59K,SNP,SNVindel,exonic,ELOVL2,NA,nonsynonymous SNV,ELOVL2:NM_017770:exon3:c.G176A:p.R59K,T,D,D,T,N,T
chr6,12122172,12122172,C,T,R007_S,HIVEP1,Missense_Mutation,NM_002114,exon4,c.C2144T,p.T715I,SNP,SNVindel,exonic,HIVEP1,NA,nonsynonymous SNV,HIVEP1:NM_002114:exon4:c.C2144T:p.T715I,D,N,N,T,N,T
chr6,12164600,12164600,C,T,R007_S,HIVEP1,Missense_Mutation,NM_002114,exon9,c.C8063T,p.P2688L,SNP,SNVindel,exonic,HIVEP1,NA,nonsynonymous SNV,HIVEP1:NM_002114:exon9:c.C8063T:p.P2688L,T,N,N,T,N,T
chr6,13230298,13230298,G,A,R007_S,PHACTR1,Missense_Mutation,NM_001322311,exon7,c.G988A,p.D330N,SNP,SNVindel,exonic,PHACTR1,NA,nonsynonymous SNV,"PHACTR1:NM_001322311:exon7:c.G988A:p.D330N,PHACTR1:NM_001322312:exon7:c.G988A:p.D330N,PHACTR1:NM_001322313:exon8:c.G1195A:p.D399N,PHACTR1:NM_001322314:exon8:c.G1474A:p.D492N,PHACTR1:NM_001322308:exon9:c.G1264A:p.D422N,PHACTR1:NM_001322309:exon9:c.G1264A:p.D422N,PHACTR1:NM_001322310:exon9:c.G1471A:p.D491N,PHACTR1:NM_001242648:exon10:c.G1264A:p.D422N,PHACTR1:NM_030948:exon10:c.G1264A:p.D422N",D,D,D,T,D,T
chr6,13365040,13365040,C,T,R007_S,GFOD1,Missense_Mutation,NM_001242628,exon2,c.G799A,p.E267K,SNP,SNVindel,exonic,GFOD1,NA,nonsynonymous SNV,"GFOD1:NM_001242628:exon2:c.G799A:p.E267K,GFOD1:NM_001242630:exon2:c.G799A:p.E267K,GFOD1:NM_018988:exon2:c.G1108A:p.E370K",D,D,D,T,N,T
chr6,13697128,13697128,C,T,R007_S,RANBP9,Missense_Mutation,NM_005493,exon2,c.G572A,p.G191D,SNP,SNVindel,exonic,RANBP9,NA,nonsynonymous SNV,RANBP9:NM_005493:exon2:c.G572A:p.G191D,D,D,D,D,D,D
chr6,15452400,15452400,C,T,R007_S,JARID2,Missense_Mutation,NM_004973,exon4,c.C487T,p.L163F,SNP,SNVindel,exonic,JARID2,NA,nonsynonymous SNV,JARID2:NM_004973:exon4:c.C487T:p.L163F,T,D,D,T,N,T
chr6,16327561,16327561,C,T,R007_S,ATXN1,Silent,NM_001128164,exon7,c.G981A,p.E327E,SNP,SNVindel,exonic,ATXN1,NA,synonymous SNV,"ATXN1:NM_001128164:exon7:c.G981A:p.E327E,ATXN1:NM_000332:exon8:c.G981A:p.E327E",NA,NA,NA,NA,NA,NA
chr6,16328348,16328348,G,A,R007_S,ATXN1,Missense_Mutation,NM_001128164,exon7,c.C194T,p.T65I,SNP,SNVindel,exonic,ATXN1,NA,nonsynonymous SNV,"ATXN1:NM_001128164:exon7:c.C194T:p.T65I,ATXN1:NM_000332:exon8:c.C194T:p.T65I",D,N,D,T,N,T
chr6,17987662,17987662,C,T,R007_S,KIF13A,Silent,NM_001105566,exon1,c.G33A,p.R11R,SNP,SNVindel,exonic,KIF13A,NA,synonymous SNV,"KIF13A:NM_001105566:exon1:c.G33A:p.R11R,KIF13A:NM_001105567:exon1:c.G33A:p.R11R,KIF13A:NM_001105568:exon1:c.G33A:p.R11R,KIF13A:NM_001243423:exon1:c.G33A:p.R11R,KIF13A:NM_022113:exon1:c.G33A:p.R11R",NA,NA,NA,NA,NA,NA
chr6,24547563,24547563,G,A,R007_S,KIAA0319,Missense_Mutation,NM_001252328,exon17,c.C1282T,p.H428Y,SNP,SNVindel,exonic,KIAA0319,NA,nonsynonymous SNV,"KIAA0319:NM_001252328:exon17:c.C1282T:p.H428Y,KIAA0319:NM_001168377:exon19:c.C2866T:p.H956Y,KIAA0319:NM_001168376:exon20:c.C2914T:p.H972Y,KIAA0319:NM_001350404:exon20:c.C3031T:p.H1011Y,KIAA0319:NM_001350405:exon20:c.C2950T:p.H984Y,KIAA0319:NM_001350406:exon20:c.C2914T:p.H972Y,KIAA0319:NM_001168375:exon21:c.C3049T:p.H1017Y,KIAA0319:NM_001350403:exon21:c.C3049T:p.H1017Y,KIAA0319:NM_014809:exon21:c.C3049T:p.H1017Y,KIAA0319:NM_001168374:exon22:c.C3022T:p.H1008Y,KIAA0319:NM_001350409:exon22:c.C2593T:p.H865Y,KIAA0319:NM_001350410:exon22:c.C2593T:p.H865Y",D,D,D,T,N,T
chr6,24780929,24780929,G,A,R007_S,GMNN,Silent,NM_001251989,exon3,c.G90A,p.Q30Q,SNP,SNVindel,exonic,GMNN,NA,synonymous SNV,"GMNN:NM_001251989:exon3:c.G90A:p.Q30Q,GMNN:NM_001251990:exon3:c.G90A:p.Q30Q,GMNN:NM_001251991:exon3:c.G90A:p.Q30Q,GMNN:NM_015895:exon3:c.G90A:p.Q30Q",NA,NA,NA,NA,NA,NA
chr6,24843408,24843408,C,T,R007_S,RIPOR2,Silent,NM_001286445,exon13,c.G1539A,p.E513E,SNP,SNVindel,exonic,RIPOR2,NA,synonymous SNV,"RIPOR2:NM_001286445:exon13:c.G1539A:p.E513E,RIPOR2:NM_001286446:exon13:c.G1554A:p.E518E,RIPOR2:NM_001286447:exon13:c.G1452A:p.E484E,RIPOR2:NM_001346031:exon13:c.G1452A:p.E484E,RIPOR2:NM_001346032:exon13:c.G1452A:p.E484E,RIPOR2:NM_015864:exon13:c.G1452A:p.E484E,RIPOR2:NM_014722:exon14:c.G1602A:p.E534E",NA,NA,NA,NA,NA,NA
chr6,25556997,25556997,G,A,R007_S,CARMIL1,Silent,NM_001173977,exon29,c.G2661A,p.E887E,SNP,SNVindel,exonic,CARMIL1,NA,synonymous SNV,"CARMIL1:NM_001173977:exon29:c.G2661A:p.E887E,CARMIL1:NM_017640:exon29:c.G2661A:p.E887E",NA,NA,NA,NA,NA,NA
chr6,25776922,25776922,C,T,R007_S,SLC17A4,Missense_Mutation,NM_005495,exon9,c.C1087T,p.L363F,SNP,SNVindel,exonic,SLC17A4,NA,nonsynonymous SNV,"SLC17A4:NM_005495:exon9:c.C1087T:p.L363F,SLC17A4:NM_001286121:exon10:c.C925T:p.L309F",D,D,D,T,D,T
chr6,26020935,26020935,G,A,R007_S,HIST1H3A,Missense_Mutation,NM_003529,exon1,c.G218A,p.R73H,SNP,SNVindel,exonic,HIST1H3A,NA,nonsynonymous SNV,HIST1H3A:NM_003529:exon1:c.G218A:p.R73H,.,.,D,.,.,D
chr6,26033783,26033783,C,T,R007_S,HIST1H2AB,Missense_Mutation,NM_003513,exon1,c.G14A,p.G5D,SNP,SNVindel,exonic,HIST1H2AB,NA,nonsynonymous SNV,HIST1H2AB:NM_003513:exon1:c.G14A:p.G5D,.,U,D,.,.,T
chr6,26157195,26157195,G,A,R007_S,HIST1H1E,Missense_Mutation,NM_005321,exon1,c.G577A,p.A193T,SNP,SNVindel,exonic,HIST1H1E,NA,nonsynonymous SNV,HIST1H1E:NM_005321:exon1:c.G577A:p.A193T,T,N,D,T,N,T
chr6,26200002,26200002,G,A,R007_S,HIST1H2BF,Silent,NM_003522,exon1,c.G216A,p.E72E,SNP,SNVindel,exonic,HIST1H2BF,NA,synonymous SNV,HIST1H2BF:NM_003522:exon1:c.G216A:p.E72E,NA,NA,NA,NA,NA,NA
chr6,26225574,26225574,G,A,R007_S,HIST1H3E,Silent,NM_003532,exon1,c.G192A,p.R64R,SNP,SNVindel,exonic,HIST1H3E,NA,synonymous SNV,HIST1H3E:NM_003532:exon1:c.G192A:p.R64R,NA,NA,NA,NA,NA,NA
chr6,26392984,26392984,C,T,R007_S,BTN2A2,Missense_Mutation,NM_001197239,exon6,c.C731T,p.A244V,SNP,SNVindel,exonic,BTN2A2,NA,nonsynonymous SNV,"BTN2A2:NM_001197239:exon6:c.C731T:p.A244V,BTN2A2:NM_181531:exon7:c.C1013T:p.A338V,BTN2A2:NM_001197237:exon8:c.C1361T:p.A454V,BTN2A2:NM_006995:exon8:c.C1361T:p.A454V",D,N,D,T,D,T
chr6,27277704,27277704,G,A,R007_S,POM121L2,Missense_Mutation,NM_033482,exon1,c.C2246T,p.T749I,SNP,SNVindel,exonic,POM121L2,NA,nonsynonymous SNV,POM121L2:NM_033482:exon1:c.C2246T:p.T749I,D,.,N,T,D,T
chr6,27277837,27277837,C,T,R007_S,POM121L2,Missense_Mutation,NM_033482,exon1,c.G2113A,p.V705I,SNP,SNVindel,exonic,POM121L2,NA,nonsynonymous SNV,POM121L2:NM_033482:exon1:c.G2113A:p.V705I,T,U,N,T,N,T
chr6,27419873,27419873,G,A,R007_S,ZNF184,Missense_Mutation,NM_001318891,exon6,c.C1465T,p.L489F,SNP,SNVindel,exonic,ZNF184,NA,nonsynonymous SNV,"ZNF184:NM_001318891:exon6:c.C1465T:p.L489F,ZNF184:NM_001318892:exon6:c.C1465T:p.L489F,ZNF184:NM_001318893:exon6:c.C1237T:p.L413F,ZNF184:NM_001347832:exon6:c.C1237T:p.L413F,ZNF184:NM_007149:exon6:c.C1465T:p.L489F",D,D,D,T,D,T
chr6,27805961,27805961,C,T,R007_S,HIST1H2AK,Missense_Mutation,NM_003510,exon1,c.G157A,p.A53T,SNP,SNVindel,exonic,HIST1H2AK,NA,nonsynonymous SNV,HIST1H2AK:NM_003510:exon1:c.G157A:p.A53T,.,U,N,.,.,T
chr6,28244816,28244816,G,A,R007_S,ZSCAN26,Silent,NM_001287422,exon2,c.G756A,p.R252R,SNP,SNVindel,exonic,ZSCAN26,NA,synonymous SNV,"ZSCAN26:NM_001287422:exon2:c.G756A:p.R252R,ZSCAN26:NM_001287421:exon4:c.G978A:p.R326R,ZSCAN26:NM_152736:exon4:c.G978A:p.R326R",NA,NA,NA,NA,NA,NA
chr6,28402530,28402530,C,T,R007_S,ZSCAN23,Silent,NM_001012455,exon4,c.G882A,p.Q294Q,SNP,SNVindel,exonic,ZSCAN23,NA,synonymous SNV,ZSCAN23:NM_001012455:exon4:c.G882A:p.Q294Q,NA,NA,NA,NA,NA,NA
chr6,33631600,33631600,C,T,R007_S,ITPR3,Missense_Mutation,NM_002224,exon11,c.C1091T,p.A364V,SNP,SNVindel,exonic,ITPR3,NA,nonsynonymous SNV,ITPR3:NM_002224:exon11:c.C1091T:p.A364V,D,D,D,D,D,D
chr6,33648332,33648332,G,A,R007_S,ITPR3,Missense_Mutation,NM_002224,exon33,c.G4351A,p.V1451I,SNP,SNVindel,exonic,ITPR3,NA,nonsynonymous SNV,ITPR3:NM_002224:exon33:c.G4351A:p.V1451I,T,D,D,T,N,T
chr6,34392591,34392591,C,T,R007_S,RPS10,Silent,NM_001014,exon3,c.G177A,p.K59K,SNP,SNVindel,exonic,RPS10;RPS10-NUDT3,NA,synonymous SNV,"RPS10:NM_001014:exon3:c.G177A:p.K59K,RPS10-NUDT3:NM_001202470:exon3:c.G177A:p.K59K,RPS10:NM_001203245:exon3:c.G177A:p.K59K,RPS10:NM_001204091:exon3:c.G177A:p.K59K",NA,NA,NA,NA,NA,NA
chr6,34507155,34507155,C,T,R007_S,SPDEF,Missense_Mutation,NM_001252294,exon4,c.G653A,p.S218N,SNP,SNVindel,exonic,SPDEF,NA,nonsynonymous SNV,"SPDEF:NM_001252294:exon4:c.G653A:p.S218N,SPDEF:NM_012391:exon5:c.G701A:p.S234N",T,N,N,T,N,T
chr6,34824631,34824631,C,T,R007_S,UHRF1BP1,Silent,NM_017754,exon11,c.C1356T,p.A452A,SNP,SNVindel,exonic,UHRF1BP1,NA,synonymous SNV,UHRF1BP1:NM_017754:exon11:c.C1356T:p.A452A,NA,NA,NA,NA,NA,NA
chr6,34826379,34826379,G,A,R007_S,UHRF1BP1,Missense_Mutation,NM_017754,exon14,c.G2246A,p.R749K,SNP,SNVindel,exonic,UHRF1BP1,NA,nonsynonymous SNV,UHRF1BP1:NM_017754:exon14:c.G2246A:p.R749K,T,N,N,T,N,T
chr6,34855686,34855686,C,T,R007_S,TAF11,Missense_Mutation,NM_001270488,exon1,c.G49A,p.E17K,SNP,SNVindel,exonic,TAF11,NA,nonsynonymous SNV,"TAF11:NM_001270488:exon1:c.G49A:p.E17K,TAF11:NM_005643:exon1:c.G49A:p.E17K",T,N,D,T,N,T
chr6,35425372,35425372,G,A,R007_S,FANCE,Missense_Mutation,NM_021922,exon3,c.G895A,p.E299K,SNP,SNVindel,exonic,FANCE,NA,nonsynonymous SNV,FANCE:NM_021922:exon3:c.G895A:p.E299K,T,N,N,T,N,T
chr6,35858770,35858770,C,T,R007_S,SRPK1,Missense_Mutation,NM_003137,exon3,c.G95A,p.G32D,SNP,SNVindel,exonic,SRPK1,NA,nonsynonymous SNV,SRPK1:NM_003137:exon3:c.G95A:p.G32D,T,.,D,T,N,T
chr6,36269778,36269778,G,A,R007_S,PNPLA1,Missense_Mutation,NM_001145716,exon6,c.G658A,p.G220R,SNP,SNVindel,exonic,PNPLA1,NA,nonsynonymous SNV,"PNPLA1:NM_001145716:exon6:c.G658A:p.G220R,PNPLA1:NM_001145717:exon6:c.G916A:p.G306R,PNPLA1:NM_173676:exon6:c.G631A:p.G211R",D,N,N,T,N,T
chr6,36334515,36334515,C,T,R007_S,ETV7,Missense_Mutation,NM_001207041,exon6,c.G480A,p.M160I,SNP,SNVindel,exonic,ETV7,NA,nonsynonymous SNV,"ETV7:NM_001207041:exon6:c.G480A:p.M160I,ETV7:NM_001207036:exon7:c.G768A:p.M256I,ETV7:NM_001207038:exon7:c.G702A:p.M234I,ETV7:NM_001207040:exon7:c.G690A:p.M230I,ETV7:NM_001207037:exon8:c.G756A:p.M252I,ETV7:NM_016135:exon8:c.G933A:p.M311I",T,N,N,T,N,T
chr6,36690282,36690282,C,T,R007_S,RAB44,Missense_Mutation,NM_001257357,exon9,c.C2371T,p.H791Y,SNP,SNVindel,exonic,RAB44,NA,nonsynonymous SNV,RAB44:NM_001257357:exon9:c.C2371T:p.H791Y,.,.,N,.,.,.
chr6,37138593,37138593,C,T,R007_S,PIM1,Silent,NM_001243186,exon2,c.C400T,p.L134L,SNP,SNVindel,exonic,PIM1,NA,synonymous SNV,"PIM1:NM_001243186:exon2:c.C400T:p.L134L,PIM1:NM_002648:exon2:c.C127T:p.L43L",NA,NA,NA,NA,NA,NA
chr6,38029512,38029512,C,T,R007_S,ZFAND3,Missense_Mutation,NM_021943,exon3,c.C256T,p.P86S,SNP,SNVindel,exonic,ZFAND3,NA,nonsynonymous SNV,ZFAND3:NM_021943:exon3:c.C256T:p.P86S,T,N,D,T,N,T
chr6,38548160,38548160,C,T,R007_S,BTBD9,Missense_Mutation,NM_001172418,exon4,c.G691A,p.E231K,SNP,SNVindel,exonic,BTBD9,NA,nonsynonymous SNV,"BTBD9:NM_001172418:exon4:c.G691A:p.E231K,BTBD9:NM_152733:exon4:c.G664A:p.E222K,BTBD9:NM_001099272:exon5:c.G868A:p.E290K,BTBD9:NM_052893:exon6:c.G868A:p.E290K",D,D,D,T,D,D
chr6,38885853,38885853,C,T,R007_S,DNAH8,Silent,NM_001371,exon69,c.C9810T,p.L3270L,SNP,SNVindel,exonic,DNAH8,NA,synonymous SNV,"DNAH8:NM_001371:exon69:c.C9810T:p.L3270L,DNAH8:NM_001206927:exon70:c.C10461T:p.L3487L",NA,NA,NA,NA,NA,NA
chr6,40360401,40360401,C,T,R007_S,LRFN2,Missense_Mutation,NM_020737,exon3,c.G1651A,p.V551I,SNP,SNVindel,exonic,LRFN2,NA,nonsynonymous SNV,LRFN2:NM_020737:exon3:c.G1651A:p.V551I,T,D,D,T,N,T
chr6,41001693,41001693,C,T,R007_S,UNC5CL,Missense_Mutation,NM_173561,exon3,c.G613A,p.V205I,SNP,SNVindel,exonic,UNC5CL,NA,nonsynonymous SNV,UNC5CL:NM_173561:exon3:c.G613A:p.V205I,T,N,N,T,N,T
chr6,41011772,41011772,C,T,R007_S,TSPO2,Missense_Mutation,NM_001010873,exon4,c.C409T,p.P137S,SNP,SNVindel,exonic,TSPO2,NA,nonsynonymous SNV,"TSPO2:NM_001010873:exon4:c.C409T:p.P137S,TSPO2:NM_001159726:exon4:c.C409T:p.P137S",D,D,D,T,D,D
chr6,41029264,41029264,C,T,R007_S,APOBEC2,Missense_Mutation,NM_006789,exon2,c.C329T,p.A110V,SNP,SNVindel,exonic,APOBEC2,NA,nonsynonymous SNV,APOBEC2:NM_006789:exon2:c.C329T:p.A110V,T,N,N,T,N,T
chr6,41118051,41118051,C,T,R007_S,TREML1,Missense_Mutation,NM_001271808,exon4,c.G236A,p.G79E,SNP,SNVindel,exonic,TREML1,NA,nonsynonymous SNV,"TREML1:NM_001271808:exon4:c.G236A:p.G79E,TREML1:NM_178174:exon5:c.G569A:p.G190E",D,N,D,T,D,T
chr6,41250269,41250269,G,A,R007_S,TREM1,Silent,NM_001242589,exon2,c.C270T,p.Y90Y,SNP,SNVindel,exonic,TREM1,NA,synonymous SNV,"TREM1:NM_001242589:exon2:c.C270T:p.Y90Y,TREM1:NM_001242590:exon2:c.C270T:p.Y90Y,TREM1:NM_018643:exon2:c.C270T:p.Y90Y",NA,NA,NA,NA,NA,NA
chr6,42627568,42627568,C,T,R007_S,UBR2,Silent,NM_001363705,exon30,c.C3417T,p.N1139N,SNP,SNVindel,exonic,UBR2,NA,synonymous SNV,"UBR2:NM_001363705:exon30:c.C3417T:p.N1139N,UBR2:NM_015255:exon30:c.C3417T:p.N1139N",NA,NA,NA,NA,NA,NA
chr6,43008689,43008689,C,T,R007_S,CUL7,Missense_Mutation,NM_001168370,exon20,c.G4022A,p.G1341D,SNP,SNVindel,exonic,CUL7,NA,nonsynonymous SNV,"CUL7:NM_001168370:exon20:c.G4022A:p.G1341D,CUL7:NM_014780:exon20:c.G3770A:p.G1257D",T,D,D,T,D,T
chr6,43015988,43015988,G,A,R007_S,CUL7,Silent,NM_001168370,exon9,c.C2319T,p.I773I,SNP,SNVindel,exonic,CUL7,NA,synonymous SNV,"CUL7:NM_001168370:exon9:c.C2319T:p.I773I,CUL7:NM_014780:exon9:c.C2067T:p.I689I",NA,NA,NA,NA,NA,NA
chr6,43017200,43017200,G,A,R007_S,CUL7,Silent,NM_001168370,exon7,c.C2022T,p.L674L,SNP,SNVindel,exonic,CUL7,NA,synonymous SNV,"CUL7:NM_001168370:exon7:c.C2022T:p.L674L,CUL7:NM_014780:exon7:c.C1770T:p.L590L",NA,NA,NA,NA,NA,NA
chr6,43153253,43153253,G,A,R007_S,CUL9,Missense_Mutation,NM_015089,exon3,c.G655A,p.D219N,SNP,SNVindel,exonic,CUL9,NA,nonsynonymous SNV,CUL9:NM_015089:exon3:c.G655A:p.D219N,D,D,D,T,D,T
chr6,43155660,43155660,G,A,R007_S,CUL9,Silent,NM_015089,exon7,c.G1791A,p.E597E,SNP,SNVindel,exonic,CUL9,NA,synonymous SNV,CUL9:NM_015089:exon7:c.G1791A:p.E597E,NA,NA,NA,NA,NA,NA
chr6,43160832,43160832,C,T,R007_S,CUL9,Silent,NM_015089,exon9,c.C2274T,p.L758L,SNP,SNVindel,exonic,CUL9,NA,synonymous SNV,CUL9:NM_015089:exon9:c.C2274T:p.L758L,NA,NA,NA,NA,NA,NA
chr6,43184013,43184013,C,T,R007_S,CUL9,Silent,NM_015089,exon31,c.C6054T,p.N2018N,SNP,SNVindel,exonic,CUL9,NA,synonymous SNV,CUL9:NM_015089:exon31:c.C6054T:p.N2018N,NA,NA,NA,NA,NA,NA
chr6,43223338,43223338,G,A,R007_S,TTBK1,Missense_Mutation,NM_032538,exon8,c.G691A,p.E231K,SNP,SNVindel,exonic,TTBK1,NA,nonsynonymous SNV,TTBK1:NM_032538:exon8:c.G691A:p.E231K,D,D,D,T,D,T
chr6,43230941,43230941,C,T,R007_S,TTBK1,Silent,NM_032538,exon13,c.C1839T,p.P613P,SNP,SNVindel,exonic,TTBK1,NA,synonymous SNV,TTBK1:NM_032538:exon13:c.C1839T:p.P613P,NA,NA,NA,NA,NA,NA
chr6,43307949,43307949,C,T,R007_S,ZNF318,Missense_Mutation,NM_014345,exon10,c.G3787A,p.V1263I,SNP,SNVindel,exonic,ZNF318,NA,nonsynonymous SNV,ZNF318:NM_014345:exon10:c.G3787A:p.V1263I,T,N,N,T,N,T
chr6,43409603,43409603,C,T,R007_S,ABCC10,Silent,NM_033450,exon7,c.C2047T,p.L683L,SNP,SNVindel,exonic,ABCC10,NA,synonymous SNV,"ABCC10:NM_033450:exon7:c.C2047T:p.L683L,ABCC10:NM_001198934:exon9:c.C2131T:p.L711L,ABCC10:NM_001350518:exon9:c.C799T:p.L267L",NA,NA,NA,NA,NA,NA
chr6,43422506,43422506,G,A,R007_S,DLK2,Missense_Mutation,NM_001286655,exon2,c.C58T,p.P20S,SNP,SNVindel,exonic,DLK2,NA,nonsynonymous SNV,"DLK2:NM_001286655:exon2:c.C58T:p.P20S,DLK2:NM_001286656:exon2:c.C58T:p.P20S,DLK2:NM_023932:exon2:c.C58T:p.P20S,DLK2:NM_206539:exon2:c.C58T:p.P20S",T,N,N,D,N,T
chr6,43472820,43472820,C,T,R007_S,TJAP1,Missense_Mutation,NM_001146020,exon9,c.C871T,p.P291S,SNP,SNVindel,exonic,TJAP1,NA,nonsynonymous SNV,"TJAP1:NM_001146020:exon9:c.C871T:p.P291S,TJAP1:NM_001146017:exon10:c.C901T:p.P301S,TJAP1:NM_001146019:exon10:c.C871T:p.P291S,TJAP1:NM_001350564:exon10:c.C901T:p.P301S,TJAP1:NM_001350566:exon10:c.C901T:p.P301S,TJAP1:NM_001350568:exon10:c.C901T:p.P301S,TJAP1:NM_001350569:exon10:c.C871T:p.P291S,TJAP1:NM_080604:exon10:c.C871T:p.P291S,TJAP1:NM_001146016:exon11:c.C901T:p.P301S,TJAP1:NM_001146018:exon11:c.C871T:p.P291S,TJAP1:NM_001350562:exon11:c.C901T:p.P301S,TJAP1:NM_001350563:exon11:c.C901T:p.P301S,TJAP1:NM_001350565:exon11:c.C901T:p.P301S,TJAP1:NM_001350567:exon11:c.C901T:p.P301S,TJAP1:NM_001350570:exon11:c.C871T:p.P291S,TJAP1:NM_001350561:exon12:c.C901T:p.P301S",T,N,N,.,N,T
chr6,43594145,43594145,C,T,R007_S,GTPBP2,Silent,NM_019096,exon3,c.G216A,p.L72L,SNP,SNVindel,exonic,GTPBP2,NA,synonymous SNV,GTPBP2:NM_019096:exon3:c.G216A:p.L72L,NA,NA,NA,NA,NA,NA
chr6,44102371,44102371,G,A,R007_S,TMEM63B,Missense_Mutation,NM_001318792,exon2,c.G50A,p.S17N,SNP,SNVindel,exonic,TMEM63B,NA,nonsynonymous SNV,"TMEM63B:NM_001318792:exon2:c.G50A:p.S17N,TMEM63B:NM_018426:exon2:c.G50A:p.S17N",T,N,N,T,N,T
chr6,44229558,44229558,C,T,R007_S,NFKBIE,Missense_Mutation,NM_004556,exon3,c.G913A,p.D305N,SNP,SNVindel,exonic,NFKBIE,NA,nonsynonymous SNV,NFKBIE:NM_004556:exon3:c.G913A:p.D305N,T,N,D,T,N,T
chr6,44268967,44268967,C,T,R007_S,AARS2,Missense_Mutation,NM_020745,exon21,c.G2719A,p.A907T,SNP,SNVindel,exonic,AARS2,NA,nonsynonymous SNV,AARS2:NM_020745:exon21:c.G2719A:p.A907T,T,N,D,T,N,T
chr6,44270903,44270903,C,T,R007_S,AARS2,Missense_Mutation,NM_020745,exon16,c.G2155A,p.D719N,SNP,SNVindel,exonic,AARS2,NA,nonsynonymous SNV,AARS2:NM_020745:exon16:c.G2155A:p.D719N,D,N,D,T,D,T
chr6,44279874,44279874,C,T,R007_S,AARS2,Missense_Mutation,NM_020745,exon2,c.G370A,p.D124N,SNP,SNVindel,exonic,AARS2,NA,nonsynonymous SNV,AARS2:NM_020745:exon2:c.G370A:p.D124N,D,D,D,T,D,D
chr6,45459724,45459724,C,T,R007_S,RUNX2,Silent,NM_001278478,exon4,c.C690T,p.D230D,SNP,SNVindel,exonic,RUNX2,NA,synonymous SNV,"RUNX2:NM_001278478:exon4:c.C690T:p.D230D,RUNX2:NM_001369405:exon4:c.C690T:p.D230D,RUNX2:NM_001015051:exon6:c.C732T:p.D244D,RUNX2:NM_001024630:exon6:c.C732T:p.D244D",NA,NA,NA,NA,NA,NA
chr6,46424549,46424549,G,A,R007_S,RCAN2,Silent,NM_001251973,exon2,c.C165T,p.L55L,SNP,SNVindel,exonic,RCAN2,NA,synonymous SNV,"RCAN2:NM_001251973:exon2:c.C165T:p.L55L,RCAN2:NM_001251974:exon2:c.C165T:p.L55L",NA,NA,NA,NA,NA,NA
chr6,46424656,46424656,G,A,R007_S,RCAN2,Missense_Mutation,NM_001251973,exon2,c.C58T,p.P20S,SNP,SNVindel,exonic,RCAN2,NA,nonsynonymous SNV,"RCAN2:NM_001251973:exon2:c.C58T:p.P20S,RCAN2:NM_001251974:exon2:c.C58T:p.P20S",T,N,N,.,N,T
chr6,46777180,46777180,C,T,R007_S,MEP1A,Silent,NM_005588,exon6,c.C286T,p.L96L,SNP,SNVindel,exonic,MEP1A,NA,synonymous SNV,MEP1A:NM_005588:exon6:c.C286T:p.L96L,NA,NA,NA,NA,NA,NA
chr6,46846032,46846032,C,T,R007_S,ADGRF5,Missense_Mutation,NM_001098518,exon10,c.G1147A,p.D383N,SNP,SNVindel,exonic,ADGRF5,NA,nonsynonymous SNV,"ADGRF5:NM_001098518:exon10:c.G1147A:p.D383N,ADGRF5:NM_015234:exon10:c.G1147A:p.D383N",T,D,D,T,N,T
chr6,47567142,47567142,C,T,R007_S,CD2AP,Silent,NM_012120,exon13,c.C1380T,p.D460D,SNP,SNVindel,exonic,CD2AP,NA,synonymous SNV,CD2AP:NM_012120:exon13:c.C1380T:p.D460D,NA,NA,NA,NA,NA,NA
chr6,47649513,47649513,G,A,R007_S,ADGRF2,Silent,NM_001368115,exon6,c.G1218A,p.Q406Q,SNP,SNVindel,exonic,ADGRF2,NA,synonymous SNV,"ADGRF2:NM_001368115:exon6:c.G1218A:p.Q406Q,ADGRF2:NM_153839:exon7:c.G1014A:p.Q338Q",NA,NA,NA,NA,NA,NA
chr6,49928115,49928115,C,T,R007_S,DEFB114,Missense_Mutation,NM_001037499,exon2,c.G100A,p.G34S,SNP,SNVindel,exonic,DEFB114,NA,nonsynonymous SNV,DEFB114:NM_001037499:exon2:c.G100A:p.G34S,D,N,N,T,D,T
chr6,50011304,50011304,T,G,R007_S,DEFB112,Missense_Mutation,NM_001369057,exon2,c.A269C,p.K90T,SNP,SNVindel,exonic,DEFB112,NA,nonsynonymous SNV,DEFB112:NM_001369057:exon2:c.A269C:p.K90T,D,.,N,.,N,T
chr6,52370498,52370498,G,A,R007_S,TRAM2,Silent,NM_012288,exon9,c.C774T,p.F258F,SNP,SNVindel,exonic,TRAM2,NA,synonymous SNV,TRAM2:NM_012288:exon9:c.C774T:p.F258F,NA,NA,NA,NA,NA,NA
chr6,56506843,56506843,C,T,R007_S,DST,Silent,NM_001723,exon3,c.G318A,p.G106G,SNP,SNVindel,exonic,DST,NA,synonymous SNV,"DST:NM_001723:exon3:c.G318A:p.G106G,DST:NM_015548:exon3:c.G318A:p.G106G,DST:NM_183380:exon13:c.G1296A:p.G432G,DST:NM_001144770:exon14:c.G1416A:p.G472G,DST:NM_001144769:exon16:c.G1830A:p.G610G",NA,NA,NA,NA,NA,NA
chr6,57011910,57011910,C,T,R007_S,ZNF451,Missense_Mutation,NM_001031623,exon10,c.C1027T,p.P343S,SNP,SNVindel,exonic,ZNF451,NA,nonsynonymous SNV,"ZNF451:NM_001031623:exon10:c.C1027T:p.P343S,ZNF451:NM_015555:exon10:c.C1027T:p.P343S",D,D,D,T,D,T
chr6,57061321,57061321,C,T,R007_S,RAB23,Missense_Mutation,NM_001278666,exon4,c.G325A,p.A109T,SNP,SNVindel,exonic,RAB23,NA,nonsynonymous SNV,"RAB23:NM_001278666:exon4:c.G325A:p.A109T,RAB23:NM_001278667:exon4:c.G325A:p.A109T,RAB23:NM_001278668:exon4:c.G325A:p.A109T,RAB23:NM_016277:exon4:c.G325A:p.A109T,RAB23:NM_183227:exon4:c.G325A:p.A109T",T,D,D,T,N,T
chr6,57467160,57467160,C,T,R007_S,PRIM2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PRIM2,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr6,64421587,64421587,C,T,R007_S,PHF3,Missense_Mutation,NM_001370349,exon15,c.C3839T,p.P1280L,SNP,SNVindel,exonic,PHF3,NA,nonsynonymous SNV,"PHF3:NM_001370349:exon15:c.C3839T:p.P1280L,PHF3:NM_001370350:exon15:c.C1910T:p.P637L,PHF3:NM_015153:exon15:c.C4103T:p.P1368L,PHF3:NM_001370348:exon16:c.C4103T:p.P1368L,PHF3:NM_001290259:exon17:c.C3839T:p.P1280L",D,N,N,T,N,T
chr6,70866601,70866601,G,A,R007_S,COL19A1,Missense_Mutation,NM_001858,exon34,c.G2278A,p.E760K,SNP,SNVindel,exonic,COL19A1,NA,nonsynonymous SNV,COL19A1:NM_001858:exon34:c.G2278A:p.E760K,.,D,D,.,.,D
chr6,71190675,71190675,C,T,R007_S,FAM135A,Missense_Mutation,NM_001331000,exon7,c.C515T,p.P172L,SNP,SNVindel,exonic,FAM135A,NA,nonsynonymous SNV,"FAM135A:NM_001331000:exon7:c.C515T:p.P172L,FAM135A:NM_001331005:exon7:c.C515T:p.P172L,FAM135A:NM_020819:exon7:c.C485T:p.P162L,FAM135A:NM_001330996:exon8:c.C614T:p.P205L,FAM135A:NM_001330997:exon8:c.C614T:p.P205L,FAM135A:NM_001331001:exon8:c.C614T:p.P205L,FAM135A:NM_001351599:exon8:c.C614T:p.P205L,FAM135A:NM_001351600:exon8:c.C614T:p.P205L,FAM135A:NM_001105531:exon9:c.C614T:p.P205L,FAM135A:NM_001162529:exon9:c.C614T:p.P205L,FAM135A:NM_001330995:exon9:c.C614T:p.P205L,FAM135A:NM_001330998:exon9:c.C614T:p.P205L,FAM135A:NM_001330999:exon9:c.C614T:p.P205L,FAM135A:NM_001331002:exon9:c.C614T:p.P205L,FAM135A:NM_001331003:exon9:c.C614T:p.P205L,FAM135A:NM_001331006:exon9:c.C614T:p.P205L,FAM135A:NM_001351602:exon9:c.C614T:p.P205L,FAM135A:NM_001351608:exon9:c.C356T:p.P119L,FAM135A:NM_001351609:exon9:c.C356T:p.P119L,FAM135A:NM_001351607:exon10:c.C614T:p.P205L",T,D,D,T,D,T
chr6,71234790,71234790,G,A,R007_S,FAM135A,Missense_Mutation,NM_001331000,exon13,c.G1316A,p.S439N,SNP,SNVindel,exonic,FAM135A,NA,nonsynonymous SNV,"FAM135A:NM_001331000:exon13:c.G1316A:p.S439N,FAM135A:NM_001331005:exon13:c.G1904A:p.S635N,FAM135A:NM_001330997:exon14:c.G1415A:p.S472N,FAM135A:NM_001331001:exon14:c.G1415A:p.S472N,FAM135A:NM_001331004:exon14:c.G728A:p.S243N,FAM135A:NM_001351600:exon14:c.G2003A:p.S668N,FAM135A:NM_020819:exon14:c.G1364A:p.S455N,FAM135A:NM_001105531:exon15:c.G1415A:p.S472N,FAM135A:NM_001162529:exon15:c.G2003A:p.S668N,FAM135A:NM_001330995:exon15:c.G1415A:p.S472N,FAM135A:NM_001330996:exon15:c.G2081A:p.S694N,FAM135A:NM_001331002:exon15:c.G1415A:p.S472N,FAM135A:NM_001351599:exon15:c.G2081A:p.S694N,FAM135A:NM_001351602:exon15:c.G2003A:p.S668N,FAM135A:NM_001351608:exon15:c.G1157A:p.S386N,FAM135A:NM_001330998:exon16:c.G1493A:p.S498N,FAM135A:NM_001330999:exon16:c.G2081A:p.S694N,FAM135A:NM_001331003:exon16:c.G1493A:p.S498N,FAM135A:NM_001331006:exon16:c.G1493A:p.S498N,FAM135A:NM_001351607:exon16:c.G2003A:p.S668N,FAM135A:NM_001351609:exon16:c.G1235A:p.S412N",T,N,N,T,N,T
chr6,71665818,71665818,G,A,R007_S,B3GAT2,Silent,NM_080742,exon1,c.C315T,p.F105F,SNP,SNVindel,exonic,B3GAT2,NA,synonymous SNV,B3GAT2:NM_080742:exon1:c.C315T:p.F105F,NA,NA,NA,NA,NA,NA
chr6,71666016,71666016,G,A,R007_S,B3GAT2,Silent,NM_080742,exon1,c.C117T,p.Y39Y,SNP,SNVindel,exonic,B3GAT2,NA,synonymous SNV,B3GAT2:NM_080742:exon1:c.C117T:p.Y39Y,NA,NA,NA,NA,NA,NA
chr6,72892782,72892782,G,A,R007_S,RIMS1,Silent,NM_014989,exon6,c.G1608A,p.E536E,SNP,SNVindel,exonic,RIMS1,NA,synonymous SNV,RIMS1:NM_014989:exon6:c.G1608A:p.E536E,NA,NA,NA,NA,NA,NA
chr6,73879504,73879504,G,A,R007_S,KCNQ5,Missense_Mutation,NM_001160130,exon10,c.G1477A,p.E493K,SNP,SNVindel,exonic,KCNQ5,NA,nonsynonymous SNV,"KCNQ5:NM_001160130:exon10:c.G1477A:p.E493K,KCNQ5:NM_001160132:exon11:c.G1534A:p.E512K,KCNQ5:NM_019842:exon11:c.G1504A:p.E502K,KCNQ5:NM_001160133:exon12:c.G1561A:p.E521K",D,D,D,D,N,D
chr6,73904687,73904687,C,T,R007_S,KCNQ5,Silent,NM_001160134,exon12,c.C2019T,p.C673C,SNP,SNVindel,exonic,KCNQ5,NA,synonymous SNV,"KCNQ5:NM_001160134:exon12:c.C2019T:p.C673C,KCNQ5:NM_001160130:exon13:c.C2322T:p.C774C,KCNQ5:NM_001160132:exon14:c.C2379T:p.C793C,KCNQ5:NM_019842:exon14:c.C2349T:p.C783C,KCNQ5:NM_001160133:exon15:c.C2406T:p.C802C",NA,NA,NA,NA,NA,NA
chr6,74440165,74440165,G,A,R007_S,CD109,Silent,NM_001159587,exon4,c.G375A,p.E125E,SNP,SNVindel,exonic,CD109,NA,synonymous SNV,"CD109:NM_001159587:exon4:c.G375A:p.E125E,CD109:NM_133493:exon4:c.G375A:p.E125E",NA,NA,NA,NA,NA,NA
chr6,74498197,74498197,G,A,R007_S,CD109,Missense_Mutation,NM_001159588,exon21,c.G2332A,p.G778R,SNP,SNVindel,exonic,CD109,NA,nonsynonymous SNV,"CD109:NM_001159588:exon21:c.G2332A:p.G778R,CD109:NM_001159587:exon22:c.G2563A:p.G855R,CD109:NM_133493:exon22:c.G2563A:p.G855R",D,D,D,T,D,T
chr6,74533190,74533190,G,A,R007_S,CD109,Missense_Mutation,NM_001159588,exon32,c.G3940A,p.A1314T,SNP,SNVindel,exonic,CD109,NA,nonsynonymous SNV,"CD109:NM_001159588:exon32:c.G3940A:p.A1314T,CD109:NM_001159587:exon33:c.G4120A:p.A1374T,CD109:NM_133493:exon33:c.G4171A:p.A1391T",T,D,D,T,N,T
chr6,75860989,75860989,C,T,R007_S,COL12A1,Missense_Mutation,NM_080645,exon6,c.G523A,p.D175N,SNP,SNVindel,exonic,COL12A1,NA,nonsynonymous SNV,"COL12A1:NM_080645:exon6:c.G523A:p.D175N,COL12A1:NM_004370:exon21:c.G4015A:p.D1339N",D,D,D,T,D,T
chr6,76596622,76596622,G,A,R007_S,MYO6,Missense_Mutation,NM_001300899,exon25,c.G2569A,p.V857I,SNP,SNVindel,exonic,MYO6,NA,nonsynonymous SNV,"MYO6:NM_001300899:exon25:c.G2569A:p.V857I,MYO6:NM_001368136:exon25:c.G2569A:p.V857I,MYO6:NM_001368137:exon25:c.G2569A:p.V857I,MYO6:NM_001368138:exon25:c.G2554A:p.V852I,MYO6:NM_001368865:exon25:c.G2569A:p.V857I,MYO6:NM_001368866:exon25:c.G2569A:p.V857I,MYO6:NM_004999:exon25:c.G2569A:p.V857I",T,D,D,D,N,D
chr6,79770414,79770414,C,T,R007_S,PHIP,Missense_Mutation,NM_017934,exon5,c.G311A,p.G104E,SNP,SNVindel,exonic,PHIP,NA,nonsynonymous SNV,PHIP:NM_017934:exon5:c.G311A:p.G104E,D,N,D,T,D,T
chr6,80223213,80223213,C,T,R007_S,LCA5,Missense_Mutation,NM_001122769,exon3,c.G436A,p.A146T,SNP,SNVindel,exonic,LCA5,NA,nonsynonymous SNV,"LCA5:NM_001122769:exon3:c.G436A:p.A146T,LCA5:NM_181714:exon4:c.G436A:p.A146T",D,D,D,D,D,D
chr6,80228439,80228439,C,T,R007_S,LCA5,Missense_Mutation,NM_001122769,exon2,c.G173A,p.G58D,SNP,SNVindel,exonic,LCA5,NA,nonsynonymous SNV,"LCA5:NM_001122769:exon2:c.G173A:p.G58D,LCA5:NM_181714:exon3:c.G173A:p.G58D",T,N,N,T,N,T
chr6,84233640,84233640,C,T,R007_S,PRSS35,Silent,NM_153362,exon2,c.C480T,p.S160S,SNP,SNVindel,exonic,PRSS35,NA,synonymous SNV,"PRSS35:NM_153362:exon2:c.C480T:p.S160S,PRSS35:NM_001170423:exon3:c.C480T:p.S160S",NA,NA,NA,NA,NA,NA
chr6,85446736,85446736,C,T,R007_S,TBX18,Silent,NM_001080508,exon8,c.G1491A,p.Q497Q,SNP,SNVindel,exonic,TBX18,NA,synonymous SNV,TBX18:NM_001080508:exon8:c.G1491A:p.Q497Q,NA,NA,NA,NA,NA,NA
chr6,89793673,89793673,C,T,R007_S,PNRC1,Nonsense_Mutation,NM_006813,exon2,c.C742T,p.Q248X,SNP,SNVindel,exonic,PNRC1,NA,stopgain,PNRC1:NM_006813:exon2:c.C742T:p.Q248X,.,N,D,.,.,.
chr6,90340181,90340181,C,T,R007_S,ANKRD6,Missense_Mutation,NM_001242814,exon13,c.C1450T,p.P484S,SNP,SNVindel,exonic,ANKRD6,NA,nonsynonymous SNV,"ANKRD6:NM_001242814:exon13:c.C1450T:p.P484S,ANKRD6:NM_001242813:exon15:c.C1537T:p.P513S,ANKRD6:NM_001242809:exon16:c.C1642T:p.P548S,ANKRD6:NM_001242811:exon16:c.C1642T:p.P548S,ANKRD6:NM_014942:exon16:c.C1627T:p.P543S",D,D,N,T,N,T
chr6,90382378,90382378,C,T,R007_S,MDN1,Silent,NM_014611,exon81,c.G13518A,p.E4506E,SNP,SNVindel,exonic,MDN1,NA,synonymous SNV,MDN1:NM_014611:exon81:c.G13518A:p.E4506E,NA,NA,NA,NA,NA,NA
chr6,90402271,90402271,G,A,R007_S,MDN1,Missense_Mutation,NM_014611,exon63,c.C10478T,p.P3493L,SNP,SNVindel,exonic,MDN1,NA,nonsynonymous SNV,MDN1:NM_014611:exon63:c.C10478T:p.P3493L,T,D,N,T,D,T
chr6,90402595,90402595,C,T,R007_S,MDN1,Missense_Mutation,NM_014611,exon63,c.G10154A,p.R3385Q,SNP,SNVindel,exonic,MDN1,NA,nonsynonymous SNV,MDN1:NM_014611:exon63:c.G10154A:p.R3385Q,T,N,D,T,N,T
chr6,90660930,90660930,C,T,R007_S,BACH2,Missense_Mutation,NM_001170794,exon5,c.G895A,p.D299N,SNP,SNVindel,exonic,BACH2,NA,nonsynonymous SNV,"BACH2:NM_001170794:exon5:c.G895A:p.D299N,BACH2:NM_021813:exon7:c.G895A:p.D299N",T,D,D,T,N,T
chr6,97613182,97613182,C,T,R007_S,MMS22L,Missense_Mutation,NM_001350600,exon20,c.G2312A,p.R771K,SNP,SNVindel,exonic,MMS22L,NA,nonsynonymous SNV,"MMS22L:NM_001350600:exon20:c.G2312A:p.R771K,MMS22L:NM_001350599:exon21:c.G3161A:p.R1054K,MMS22L:NM_198468:exon21:c.G3161A:p.R1054K",T,N,N,T,N,T
chr6,99374419,99374419,C,T,R007_S,FBXL4,Missense_Mutation,NM_012160,exon3,c.G446A,p.G149E,SNP,SNVindel,exonic,FBXL4,NA,nonsynonymous SNV,"FBXL4:NM_012160:exon3:c.G446A:p.G149E,FBXL4:NM_001278716:exon4:c.G446A:p.G149E",D,D,D,T,D,T
chr6,99851745,99851745,C,T,R007_S,PNISR,Silent,NM_001322408,exon9,c.G1116A,p.Q372Q,SNP,SNVindel,exonic,PNISR,NA,synonymous SNV,"PNISR:NM_001322408:exon9:c.G1116A:p.Q372Q,PNISR:NM_001322413:exon9:c.G1116A:p.Q372Q,PNISR:NM_015491:exon9:c.G1116A:p.Q372Q,PNISR:NM_001322405:exon10:c.G1116A:p.Q372Q,PNISR:NM_001322410:exon10:c.G1116A:p.Q372Q,PNISR:NM_001322412:exon10:c.G1116A:p.Q372Q,PNISR:NM_001322416:exon10:c.G1116A:p.Q372Q,PNISR:NM_032870:exon10:c.G1116A:p.Q372Q,PNISR:NM_001322406:exon11:c.G1116A:p.Q372Q",NA,NA,NA,NA,NA,NA
chr6,99858778,99858778,G,A,R007_S,PNISR,Missense_Mutation,NM_001322408,exon4,c.C340T,p.P114S,SNP,SNVindel,exonic,PNISR,NA,nonsynonymous SNV,"PNISR:NM_001322408:exon4:c.C340T:p.P114S,PNISR:NM_001322413:exon4:c.C340T:p.P114S,PNISR:NM_001322415:exon4:c.C340T:p.P114S,PNISR:NM_015491:exon4:c.C340T:p.P114S,PNISR:NM_001322405:exon5:c.C340T:p.P114S,PNISR:NM_001322410:exon5:c.C340T:p.P114S,PNISR:NM_001322412:exon5:c.C340T:p.P114S,PNISR:NM_001322414:exon5:c.C340T:p.P114S,PNISR:NM_001322416:exon5:c.C340T:p.P114S,PNISR:NM_001322417:exon5:c.C340T:p.P114S,PNISR:NM_032870:exon5:c.C340T:p.P114S,PNISR:NM_001322406:exon6:c.C340T:p.P114S",T,D,D,T,N,T
chr6,100060928,100060928,C,T,R007_S,PRDM13,Silent,NM_021620,exon4,c.C417T,p.C139C,SNP,SNVindel,exonic,PRDM13,NA,synonymous SNV,PRDM13:NM_021620:exon4:c.C417T:p.C139C,NA,NA,NA,NA,NA,NA
chr6,100368957,100368957,G,A,R007_S,MCHR2,Silent,NM_001040179,exon6,c.C882T,p.L294L,SNP,SNVindel,exonic,MCHR2,NA,synonymous SNV,"MCHR2:NM_001040179:exon6:c.C882T:p.L294L,MCHR2:NM_032503:exon6:c.C882T:p.L294L",NA,NA,NA,NA,NA,NA
chr6,101246621,101246621,C,T,R007_S,ASCC3,Missense_Mutation,NM_001284271,exon8,c.G1363A,p.E455K,SNP,SNVindel,exonic,ASCC3,NA,nonsynonymous SNV,"ASCC3:NM_001284271:exon8:c.G1363A:p.E455K,ASCC3:NM_006828:exon8:c.G1363A:p.E455K",T,D,D,T,N,T
chr6,105224972,105224972,C,T,R007_S,HACE1,Silent,NM_001350555,exon13,c.G1401A,p.R467R,SNP,SNVindel,exonic,HACE1,NA,synonymous SNV,"HACE1:NM_001350555:exon13:c.G1401A:p.R467R,HACE1:NM_001350557:exon14:c.G1188A:p.R396R,HACE1:NM_001350559:exon14:c.G1110A:p.R370R,HACE1:NM_001350560:exon14:c.G909A:p.R303R,HACE1:NM_001321080:exon15:c.G1560A:p.R520R,HACE1:NM_001321084:exon15:c.G1188A:p.R396R,HACE1:NM_001350556:exon15:c.G1206A:p.R402R,HACE1:NM_001350558:exon15:c.G1188A:p.R396R,HACE1:NM_001321083:exon16:c.G1590A:p.R530R,HACE1:NM_001350554:exon16:c.G1458A:p.R486R,HACE1:NM_020771:exon16:c.G1692A:p.R564R",NA,NA,NA,NA,NA,NA
chr6,106969223,106969223,C,T,R007_S,CRYBG1,Silent,NM_001624,exon2,c.C2916T,p.N972N,SNP,SNVindel,exonic,CRYBG1,NA,synonymous SNV,"CRYBG1:NM_001624:exon2:c.C2916T:p.N972N,CRYBG1:NM_001371242:exon4:c.C4140T:p.N1380N",NA,NA,NA,NA,NA,NA
chr6,107391498,107391498,C,T,R007_S,BEND3,Silent,NM_001367314,exon4,c.G897A,p.L299L,SNP,SNVindel,exonic,BEND3,NA,synonymous SNV,"BEND3:NM_001367314:exon4:c.G897A:p.L299L,BEND3:NM_001080450:exon5:c.G897A:p.L299L",NA,NA,NA,NA,NA,NA
chr6,107955484,107955484,C,T,R007_S,SOBP,Missense_Mutation,NM_018013,exon6,c.C1436T,p.P479L,SNP,SNVindel,exonic,SOBP,NA,nonsynonymous SNV,SOBP:NM_018013:exon6:c.C1436T:p.P479L,D,D,D,T,D,T
chr6,108093502,108093502,C,T,R007_S,SCML4,Silent,NM_198081,exon2,c.G30A,p.K10K,SNP,SNVindel,exonic,SCML4,NA,synonymous SNV,SCML4:NM_198081:exon2:c.G30A:p.K10K,NA,NA,NA,NA,NA,NA
chr6,109699127,109699127,C,T,R007_S,CD164,Missense_Mutation,NM_001142401,exon3,c.G307A,p.G103R,SNP,SNVindel,exonic,CD164,NA,nonsynonymous SNV,"CD164:NM_001142401:exon3:c.G307A:p.G103R,CD164:NM_001142402:exon3:c.G307A:p.G103R,CD164:NM_001142403:exon3:c.G307A:p.G103R,CD164:NM_001142404:exon3:c.G307A:p.G103R,CD164:NM_001346500:exon3:c.G205A:p.G69R,CD164:NM_006016:exon3:c.G307A:p.G103R",T,N,N,T,N,T
chr6,109802288,109802288,C,T,R007_S,ZBTB24,Silent,NM_001164313,exon2,c.G942A,p.R314R,SNP,SNVindel,exonic,ZBTB24,NA,synonymous SNV,"ZBTB24:NM_001164313:exon2:c.G942A:p.R314R,ZBTB24:NM_014797:exon2:c.G942A:p.R314R",NA,NA,NA,NA,NA,NA
chr6,111693952,111693952,C,T,R007_S,REV3L,Missense_Mutation,NM_002912,exon14,c.G5606A,p.S1869N,SNP,SNVindel,exonic,REV3L,NA,nonsynonymous SNV,"REV3L:NM_002912:exon14:c.G5606A:p.S1869N,REV3L:NM_001286432:exon15:c.G5372A:p.S1791N,REV3L:NM_001286431:exon16:c.G5372A:p.S1791N",T,N,N,T,N,T
chr6,111912907,111912907,T,C,R007_S,TRAF3IP2,Missense_Mutation,NM_001164281,exon2,c.A383G,p.E128G,SNP,SNVindel,exonic,TRAF3IP2,NA,nonsynonymous SNV,"TRAF3IP2:NM_001164281:exon2:c.A383G:p.E128G,TRAF3IP2:NM_147686:exon2:c.A383G:p.E128G,TRAF3IP2:NM_147200:exon3:c.A410G:p.E137G",T,N,D,T,N,T
chr6,112466012,112466012,C,T,R007_S,LAMA4,Missense_Mutation,NM_001105206,exon19,c.G2477A,p.R826K,SNP,SNVindel,exonic,LAMA4,NA,nonsynonymous SNV,"LAMA4:NM_001105206:exon19:c.G2477A:p.R826K,LAMA4:NM_001105207:exon19:c.G2456A:p.R819K,LAMA4:NM_002290:exon19:c.G2456A:p.R819K",D,D,D,T,D,D
chr6,112512932,112512932,C,T,R007_S,LAMA4,Silent,NM_001105206,exon6,c.G624A,p.Q208Q,SNP,SNVindel,exonic,LAMA4,NA,synonymous SNV,"LAMA4:NM_001105206:exon6:c.G624A:p.Q208Q,LAMA4:NM_001105207:exon6:c.G624A:p.Q208Q,LAMA4:NM_002290:exon6:c.G624A:p.Q208Q",NA,NA,NA,NA,NA,NA
chr6,112671089,112671089,C,T,R007_S,RFPL4B,Missense_Mutation,NM_001013734,exon3,c.C179T,p.A60V,SNP,SNVindel,exonic,RFPL4B,NA,nonsynonymous SNV,RFPL4B:NM_001013734:exon3:c.C179T:p.A60V,T,N,N,T,N,T
chr6,116720669,116720669,C,T,R007_S,DSE,Missense_Mutation,NM_001080976,exon2,c.C256T,p.L86F,SNP,SNVindel,exonic,DSE,NA,nonsynonymous SNV,"DSE:NM_001080976:exon2:c.C256T:p.L86F,DSE:NM_001322939:exon2:c.C313T:p.L105F,DSE:NM_001322943:exon2:c.C256T:p.L86F,DSE:NM_001322944:exon2:c.C256T:p.L86F,DSE:NM_013352:exon2:c.C256T:p.L86F,DSE:NM_001322937:exon3:c.C256T:p.L86F,DSE:NM_001322938:exon3:c.C256T:p.L86F",D,D,D,T,D,T
chr6,116757364,116757364,G,A,R007_S,DSE,Missense_Mutation,NM_001080976,exon6,c.G1733A,p.S578N,SNP,SNVindel,exonic,DSE,NA,nonsynonymous SNV,"DSE:NM_001080976:exon6:c.G1733A:p.S578N,DSE:NM_001322939:exon6:c.G1790A:p.S597N,DSE:NM_001322941:exon6:c.G1172A:p.S391N,DSE:NM_013352:exon6:c.G1733A:p.S578N,DSE:NM_001322937:exon7:c.G1733A:p.S578N,DSE:NM_001322938:exon7:c.G1733A:p.S578N,DSE:NM_001322940:exon7:c.G1172A:p.S391N",D,D,D,T,N,T
chr6,116861566,116861566,C,T,R007_S,TRAPPC3L,Missense_Mutation,NM_001139444,exon3,c.G200A,p.R67K,SNP,SNVindel,exonic,TRAPPC3L,NA,nonsynonymous SNV,TRAPPC3L:NM_001139444:exon3:c.G200A:p.R67K,T,D,D,T,N,T
chr6,117128238,117128238,C,T,R007_S,GPRC6A,Nonsense_Mutation,NM_001286354,exon3,c.G630A,p.W210X,SNP,SNVindel,exonic,GPRC6A,NA,stopgain,"GPRC6A:NM_001286354:exon3:c.G630A:p.W210X,GPRC6A:NM_001286355:exon3:c.G630A:p.W210X,GPRC6A:NM_148963:exon3:c.G630A:p.W210X",.,D,A,.,.,.
chr6,119137102,119137102,C,T,R007_S,MCM9,Missense_Mutation,NM_017696,exon12,c.G2317A,p.A773T,SNP,SNVindel,exonic,MCM9,NA,nonsynonymous SNV,MCM9:NM_017696:exon12:c.G2317A:p.A773T,T,N,N,T,N,T
chr6,121482137,121482137,C,T,R007_S,TBC1D32,Missense_Mutation,NM_152730,exon23,c.G2636A,p.G879D,SNP,SNVindel,exonic,TBC1D32,NA,nonsynonymous SNV,"TBC1D32:NM_152730:exon23:c.G2636A:p.G879D,TBC1D32:NM_001367760:exon24:c.G2759A:p.G920D,TBC1D32:NM_001367759:exon25:c.G2759A:p.G920D",D,D,D,T,D,T
chr6,123714816,123714816,C,T,R007_S,TRDN,Missense_Mutation,NM_001251987,exon13,c.G1061A,p.G354E,SNP,SNVindel,exonic,TRDN,NA,nonsynonymous SNV,"TRDN:NM_001251987:exon13:c.G1061A:p.G354E,TRDN:NM_006073:exon13:c.G1058A:p.G353E",D,N,N,T,N,T
chr6,125366564,125366564,C,T,R007_S,RNF217,Missense_Mutation,NM_001286398,exon2,c.C1090T,p.P364S,SNP,SNVindel,exonic,RNF217,NA,nonsynonymous SNV,"RNF217:NM_001286398:exon2:c.C1090T:p.P364S,RNF217:NM_152553:exon4:c.C214T:p.P72S",T,D,D,T,N,T
chr6,127911307,127911307,C,T,R007_S,C6orf58,Silent,NM_001010905,exon5,c.C750T,p.V250V,SNP,SNVindel,exonic,C6orf58,NA,synonymous SNV,C6orf58:NM_001010905:exon5:c.C750T:p.V250V,NA,NA,NA,NA,NA,NA
chr6,128176193,128176193,G,A,R007_S,THEMIS,Silent,NM_001010923,exon2,c.C232T,p.L78L,SNP,SNVindel,exonic,THEMIS,NA,synonymous SNV,"THEMIS:NM_001010923:exon2:c.C232T:p.L78L,THEMIS:NM_001164685:exon2:c.C232T:p.L78L,THEMIS:NM_001164687:exon2:c.C127T:p.L43L",NA,NA,NA,NA,NA,NA
chr6,128320034,128320034,G,A,R007_S,PTPRK,Missense_Mutation,NM_001135648,exon16,c.C2510T,p.A837V,SNP,SNVindel,exonic,PTPRK,NA,nonsynonymous SNV,"PTPRK:NM_001135648:exon16:c.C2510T:p.A837V,PTPRK:NM_001291984:exon16:c.C2507T:p.A836V,PTPRK:NM_002844:exon16:c.C2510T:p.A837V,PTPRK:NM_001291981:exon18:c.C2558T:p.A853V",T,D,D,T,N,T
chr6,129723577,129723577,T,G,R007_S,LAMA2,Missense_Mutation,NM_000426,exon39,c.T5671G,p.S1891A,SNP,SNVindel,exonic,LAMA2,NA,nonsynonymous SNV,"LAMA2:NM_000426:exon39:c.T5671G:p.S1891A,LAMA2:NM_001079823:exon39:c.T5671G:p.S1891A",T,N,N,T,N,T
chr6,129826431,129826431,C,T,R007_S,LAMA2,Silent,NM_001079823,exon60,c.C8622T,p.I2874I,SNP,SNVindel,exonic,LAMA2,NA,synonymous SNV,"LAMA2:NM_001079823:exon60:c.C8622T:p.I2874I,LAMA2:NM_000426:exon61:c.C8634T:p.I2878I",NA,NA,NA,NA,NA,NA
chr6,131222128,131222128,C,T,R007_S,EPB41L2,Silent,NM_001135554,exon7,c.G1122A,p.K374K,SNP,SNVindel,exonic,EPB41L2,NA,synonymous SNV,"EPB41L2:NM_001135554:exon7:c.G1122A:p.K374K,EPB41L2:NM_001135555:exon7:c.G1122A:p.K374K,EPB41L2:NM_001199388:exon7:c.G1122A:p.K374K,EPB41L2:NM_001252660:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350299:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350301:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350302:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350303:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350304:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350305:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350306:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350307:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350308:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350309:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350310:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350311:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350312:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350313:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350314:exon7:c.G1122A:p.K374K,EPB41L2:NM_001350315:exon7:c.G1122A:p.K374K,EPB41L2:NM_001431:exon7:c.G1122A:p.K374K",NA,NA,NA,NA,NA,NA
chr6,131277418,131277418,C,T,R007_S,EPB41L2,Missense_Mutation,NM_001135554,exon2,c.G208A,p.E70K,SNP,SNVindel,exonic,EPB41L2,NA,nonsynonymous SNV,"EPB41L2:NM_001135554:exon2:c.G208A:p.E70K,EPB41L2:NM_001135555:exon2:c.G208A:p.E70K,EPB41L2:NM_001199388:exon2:c.G208A:p.E70K,EPB41L2:NM_001252660:exon2:c.G208A:p.E70K,EPB41L2:NM_001350299:exon2:c.G208A:p.E70K,EPB41L2:NM_001350301:exon2:c.G208A:p.E70K,EPB41L2:NM_001350302:exon2:c.G208A:p.E70K,EPB41L2:NM_001350303:exon2:c.G208A:p.E70K,EPB41L2:NM_001350304:exon2:c.G208A:p.E70K,EPB41L2:NM_001350305:exon2:c.G208A:p.E70K,EPB41L2:NM_001350306:exon2:c.G208A:p.E70K,EPB41L2:NM_001350307:exon2:c.G208A:p.E70K,EPB41L2:NM_001350308:exon2:c.G208A:p.E70K,EPB41L2:NM_001350309:exon2:c.G208A:p.E70K,EPB41L2:NM_001350310:exon2:c.G208A:p.E70K,EPB41L2:NM_001350311:exon2:c.G208A:p.E70K,EPB41L2:NM_001350312:exon2:c.G208A:p.E70K,EPB41L2:NM_001350313:exon2:c.G208A:p.E70K,EPB41L2:NM_001350314:exon2:c.G208A:p.E70K,EPB41L2:NM_001350315:exon2:c.G208A:p.E70K,EPB41L2:NM_001431:exon2:c.G208A:p.E70K",D,D,D,D,N,T
chr6,134491550,134491550,G,A,R007_S,SGK1,Silent,NM_001291995,exon11,c.C1020T,p.H340H,SNP,SNVindel,exonic,SGK1,NA,synonymous SNV,"SGK1:NM_001291995:exon11:c.C1020T:p.H340H,SGK1:NM_001143677:exon12:c.C1236T:p.H412H,SGK1:NM_001143678:exon12:c.C1194T:p.H398H,SGK1:NM_005627:exon12:c.C1152T:p.H384H,SGK1:NM_001143676:exon14:c.C1437T:p.H479H",NA,NA,NA,NA,NA,NA
chr6,135239580,135239580,C,T,R007_S,ALDH8A1,Silent,NM_001193480,exon6,c.G1287A,p.E429E,SNP,SNVindel,exonic,ALDH8A1,NA,synonymous SNV,"ALDH8A1:NM_001193480:exon6:c.G1287A:p.E429E,ALDH8A1:NM_170771:exon6:c.G1275A:p.E425E,ALDH8A1:NM_022568:exon7:c.G1437A:p.E479E",NA,NA,NA,NA,NA,NA
chr6,135518370,135518370,C,T,R007_S,MYB,Missense_Mutation,NM_001130173,exon10,c.C1475T,p.T492I,SNP,SNVindel,exonic,MYB,NA,nonsynonymous SNV,"MYB:NM_001130173:exon10:c.C1475T:p.T492I,MYB:NM_001161656:exon10:c.C1466T:p.T489I,MYB:NM_001161658:exon10:c.C1427T:p.T476I",T,N,D,T,N,T
chr6,135518427,135518427,C,T,R007_S,MYB,Missense_Mutation,NM_001130173,exon10,c.C1532T,p.S511F,SNP,SNVindel,exonic,MYB,NA,nonsynonymous SNV,"MYB:NM_001130173:exon10:c.C1532T:p.S511F,MYB:NM_001161656:exon10:c.C1523T:p.S508F,MYB:NM_001161658:exon10:c.C1484T:p.S495F",D,D,D,T,N,T
chr6,136682275,136682275,C,T,R007_S,MAP7,Silent,NM_001198617,exon10,c.G1287A,p.R429R,SNP,SNVindel,exonic,MAP7,NA,synonymous SNV,"MAP7:NM_001198617:exon10:c.G1287A:p.R429R,MAP7:NM_001198611:exon11:c.G1524A:p.R508R,MAP7:NM_001198616:exon11:c.G1458A:p.R486R,MAP7:NM_001198608:exon12:c.G1635A:p.R545R,MAP7:NM_001198609:exon12:c.G1659A:p.R553R,MAP7:NM_001198615:exon12:c.G1524A:p.R508R,MAP7:NM_001198618:exon12:c.G1131A:p.R377R,MAP7:NM_001198619:exon12:c.G1131A:p.R377R,MAP7:NM_003980:exon12:c.G1569A:p.R523R,MAP7:NM_001198614:exon13:c.G1635A:p.R545R",NA,NA,NA,NA,NA,NA
chr6,136687009,136687009,C,T,R007_S,MAP7,Silent,NM_001198617,exon8,c.G855A,p.E285E,SNP,SNVindel,exonic,MAP7,NA,synonymous SNV,"MAP7:NM_001198617:exon8:c.G855A:p.E285E,MAP7:NM_001198611:exon9:c.G1092A:p.E364E,MAP7:NM_001198616:exon9:c.G1026A:p.E342E,MAP7:NM_001198608:exon10:c.G1203A:p.E401E,MAP7:NM_001198609:exon10:c.G1227A:p.E409E,MAP7:NM_001198615:exon10:c.G1092A:p.E364E,MAP7:NM_001198618:exon10:c.G699A:p.E233E,MAP7:NM_001198619:exon10:c.G699A:p.E233E,MAP7:NM_003980:exon10:c.G1137A:p.E379E,MAP7:NM_001198614:exon11:c.G1203A:p.E401E",NA,NA,NA,NA,NA,NA
chr6,137329839,137329839,C,T,R007_S,IL20RA,Nonsense_Mutation,NM_001278723,exon4,c.G288A,p.W96X,SNP,SNVindel,exonic,IL20RA,NA,stopgain,"IL20RA:NM_001278723:exon4:c.G288A:p.W96X,IL20RA:NM_001278724:exon4:c.G222A:p.W74X,IL20RA:NM_001278722:exon5:c.G474A:p.W158X,IL20RA:NM_014432:exon5:c.G621A:p.W207X",.,N,A,.,.,.
chr6,137519183,137519183,G,A,R007_S,IFNGR1,Silent,NM_000416,exon7,c.C1455T,p.S485S,SNP,SNVindel,exonic,IFNGR1,NA,synonymous SNV,"IFNGR1:NM_000416:exon7:c.C1455T:p.S485S,IFNGR1:NM_001363527:exon7:c.C1332T:p.S444S,IFNGR1:NM_001363526:exon8:c.C1425T:p.S475S",NA,NA,NA,NA,NA,NA
chr6,138531158,138531158,C,T,R007_S,ARFGEF3,Silent,NM_020340,exon4,c.C331T,p.L111L,SNP,SNVindel,exonic,ARFGEF3,NA,synonymous SNV,ARFGEF3:NM_020340:exon4:c.C331T:p.L111L,NA,NA,NA,NA,NA,NA
chr6,138754701,138754701,C,T,R007_S,NHSL1,Missense_Mutation,NM_020464,exon5,c.G793A,p.D265N,SNP,SNVindel,exonic,NHSL1,NA,nonsynonymous SNV,"NHSL1:NM_020464:exon5:c.G793A:p.D265N,NHSL1:NM_001144060:exon6:c.G781A:p.D261N",D,D,D,T,D,T
chr6,139164305,139164305,C,T,R007_S,ECT2L,Silent,NM_001195037,exon5,c.C532T,p.L178L,SNP,SNVindel,exonic,ECT2L,NA,synonymous SNV,"ECT2L:NM_001195037:exon5:c.C532T:p.L178L,ECT2L:NM_001077706:exon6:c.C532T:p.L178L",NA,NA,NA,NA,NA,NA
chr6,139488205,139488205,C,T,R007_S,HECA,Silent,NM_016217,exon2,c.C1056T,p.L352L,SNP,SNVindel,exonic,HECA,NA,synonymous SNV,HECA:NM_016217:exon2:c.C1056T:p.L352L,NA,NA,NA,NA,NA,NA
chr6,142409743,142409743,C,T,R007_S,NMBR,Missense_Mutation,NM_002511,exon1,c.G53A,p.S18N,SNP,SNVindel,exonic,NMBR,NA,nonsynonymous SNV,NMBR:NM_002511:exon1:c.G53A:p.S18N,T,N,D,T,N,T
chr6,143074448,143074448,C,T,R007_S,HIVEP2,Silent,NM_006734,exon10,c.G7137A,p.Q2379Q,SNP,SNVindel,exonic,HIVEP2,NA,synonymous SNV,HIVEP2:NM_006734:exon10:c.G7137A:p.Q2379Q,NA,NA,NA,NA,NA,NA
chr6,143095328,143095328,G,A,R007_S,HIVEP2,Missense_Mutation,NM_006734,exon5,c.C548T,p.P183L,SNP,SNVindel,exonic,HIVEP2,NA,nonsynonymous SNV,HIVEP2:NM_006734:exon5:c.C548T:p.P183L,D,D,D,T,D,T
chr6,143382163,143382163,C,T,R007_S,AIG1,Missense_Mutation,NM_001286588,exon1,c.C101T,p.T34I,SNP,SNVindel,exonic,AIG1,NA,nonsynonymous SNV,"AIG1:NM_001286588:exon1:c.C101T:p.T34I,AIG1:NM_001286589:exon1:c.C101T:p.T34I,AIG1:NM_001363721:exon1:c.C101T:p.T34I,AIG1:NM_001366344:exon1:c.C101T:p.T34I,AIG1:NM_001366346:exon1:c.C101T:p.T34I,AIG1:NM_001366347:exon1:c.C101T:p.T34I,AIG1:NM_001366348:exon1:c.C101T:p.T34I,AIG1:NM_001366349:exon1:c.C101T:p.T34I,AIG1:NM_001366350:exon1:c.C101T:p.T34I,AIG1:NM_001366353:exon1:c.C101T:p.T34I,AIG1:NM_001366354:exon1:c.C101T:p.T34I,AIG1:NM_001366355:exon1:c.C101T:p.T34I,AIG1:NM_001366356:exon1:c.C101T:p.T34I,AIG1:NM_001366357:exon1:c.C101T:p.T34I,AIG1:NM_001366363:exon1:c.C101T:p.T34I,AIG1:NM_016108:exon1:c.C101T:p.T34I,AIG1:NM_001286587:exon2:c.C71T:p.T24I,AIG1:NM_001366345:exon2:c.C173T:p.T58I,AIG1:NM_001366351:exon2:c.C89T:p.T30I,AIG1:NM_001366352:exon2:c.C173T:p.T58I,AIG1:NM_001366359:exon2:c.C89T:p.T30I,AIG1:NM_001366362:exon2:c.C173T:p.T58I",T,D,D,T,N,T
chr6,144086809,144086809,G,A,R007_S,PHACTR2,Missense_Mutation,NM_001100165,exon5,c.G866A,p.S289N,SNP,SNVindel,exonic,PHACTR2,NA,nonsynonymous SNV,"PHACTR2:NM_001100165:exon5:c.G866A:p.S289N,PHACTR2:NM_001100166:exon5:c.G833A:p.S278N,PHACTR2:NM_001100164:exon6:c.G1106A:p.S369N,PHACTR2:NM_014721:exon6:c.G1073A:p.S358N",T,N,N,T,N,T
chr6,146216050,146216050,G,A,R007_S,SHPRH,Missense_Mutation,NM_001042683,exon26,c.C4579T,p.P1527S,SNP,SNVindel,exonic,SHPRH,NA,nonsynonymous SNV,"SHPRH:NM_001042683:exon26:c.C4579T:p.P1527S,SHPRH:NM_001370327:exon26:c.C4579T:p.P1527S,SHPRH:NM_173082:exon26:c.C4591T:p.P1531S,SHPRH:NM_001370328:exon28:c.C3136T:p.P1046S",D,D,D,T,D,T
chr6,146266750,146266750,C,T,R007_S,SHPRH,Missense_Mutation,NM_001042683,exon8,c.G1345A,p.A449T,SNP,SNVindel,exonic,SHPRH,NA,nonsynonymous SNV,"SHPRH:NM_001042683:exon8:c.G1345A:p.A449T,SHPRH:NM_001370327:exon8:c.G1345A:p.A449T,SHPRH:NM_173082:exon8:c.G1345A:p.A449T",D,D,D,T,N,T
chr6,147049874,147049874,C,T,R007_S,ADGB,Silent,NM_024694,exon20,c.C2517T,p.F839F,SNP,SNVindel,exonic,ADGB,NA,synonymous SNV,ADGB:NM_024694:exon20:c.C2517T:p.F839F,NA,NA,NA,NA,NA,NA
chr6,148869519,148869519,G,A,R007_S,SASH1,Missense_Mutation,NM_001346507,exon13,c.G2852A,p.G951D,SNP,SNVindel,exonic,SASH1,NA,nonsynonymous SNV,"SASH1:NM_001346507:exon13:c.G2852A:p.G951D,SASH1:NM_001346508:exon13:c.G3341A:p.G1114D,SASH1:NM_001346509:exon13:c.G3218A:p.G1073D,SASH1:NM_001346505:exon20:c.G3434A:p.G1145D,SASH1:NM_015278:exon20:c.G3569A:p.G1190D,SASH1:NM_001346506:exon21:c.G3197A:p.G1066D",D,D,D,D,N,D
chr6,150001477,150001477,C,T,R007_S,LATS1,Silent,NM_001350392,exon4,c.G1287A,p.K429K,SNP,SNVindel,exonic,LATS1,NA,synonymous SNV,"LATS1:NM_001350392:exon4:c.G1287A:p.K429K,LATS1:NM_004690:exon5:c.G2127A:p.K709K,LATS1:NM_001350339:exon6:c.G1812A:p.K604K,LATS1:NM_001350340:exon6:c.G1812A:p.K604K",NA,NA,NA,NA,NA,NA
chr6,151089848,151089848,C,T,R007_S,PLEKHG1,Silent,NM_001329798,exon3,c.C663T,p.N221N,SNP,SNVindel,exonic,PLEKHG1,NA,synonymous SNV,"PLEKHG1:NM_001329798:exon3:c.C663T:p.N221N,PLEKHG1:NM_001329799:exon3:c.C606T:p.N202N,PLEKHG1:NM_001329800:exon3:c.C486T:p.N162N,PLEKHG1:NM_001329801:exon3:c.C486T:p.N162N,PLEKHG1:NM_001329802:exon3:c.C486T:p.N162N,PLEKHG1:NM_001329803:exon3:c.C486T:p.N162N,PLEKHG1:NM_001329806:exon3:c.C486T:p.N162N,PLEKHG1:NM_001029884:exon4:c.C486T:p.N162N,PLEKHG1:NM_001329805:exon4:c.C486T:p.N162N,PLEKHG1:NM_001329804:exon5:c.C486T:p.N162N",NA,NA,NA,NA,NA,NA
chr6,151152495,151152495,C,T,R007_S,PLEKHG1,Missense_Mutation,NM_001329803,exon13,c.C2131T,p.P711S,SNP,SNVindel,exonic,PLEKHG1,NA,nonsynonymous SNV,"PLEKHG1:NM_001329803:exon13:c.C2131T:p.P711S,PLEKHG1:NM_001329802:exon14:c.C2209T:p.P737S,PLEKHG1:NM_001329798:exon15:c.C2425T:p.P809S,PLEKHG1:NM_001329799:exon15:c.C2368T:p.P790S,PLEKHG1:NM_001329800:exon15:c.C2248T:p.P750S,PLEKHG1:NM_001329801:exon15:c.C2248T:p.P750S,PLEKHG1:NM_001029884:exon16:c.C2248T:p.P750S",D,N,N,T,N,T
chr6,151670144,151670144,G,A,R007_S,AKAP12,Silent,NM_001370346,exon2,c.G303A,p.G101G,SNP,SNVindel,exonic,AKAP12,NA,synonymous SNV,"AKAP12:NM_001370346:exon2:c.G303A:p.G101G,AKAP12:NM_144497:exon2:c.G324A:p.G108G,AKAP12:NM_005100:exon4:c.G618A:p.G206G",NA,NA,NA,NA,NA,NA
chr6,151757671,151757671,C,T,R007_S,RMND1,Missense_Mutation,NM_001271937,exon2,c.G13A,p.A5T,SNP,SNVindel,exonic,RMND1,NA,nonsynonymous SNV,"RMND1:NM_001271937:exon2:c.G13A:p.A5T,RMND1:NM_017909:exon3:c.G523A:p.A175T",D,D,D,T,D,T
chr6,152265379,152265379,G,A,R007_S,ESR1,Missense_Mutation,NM_000125,exon4,c.G832A,p.G278S,SNP,SNVindel,exonic,ESR1,NA,nonsynonymous SNV,"ESR1:NM_000125:exon4:c.G832A:p.G278S,ESR1:NM_001328100:exon4:c.G313A:p.G105S,ESR1:NM_001122740:exon5:c.G832A:p.G278S,ESR1:NM_001122741:exon5:c.G832A:p.G278S,ESR1:NM_001291230:exon5:c.G838A:p.G280S,ESR1:NM_001291241:exon5:c.G829A:p.G277S,ESR1:NM_001122742:exon6:c.G832A:p.G278S",T,N,D,D,N,T
chr6,152470644,152470644,C,T,R007_S,SYNE1,Missense_Mutation,NM_001347702,exon7,c.G1075A,p.E359K,SNP,SNVindel,exonic,SYNE1,NA,nonsynonymous SNV,"SYNE1:NM_001347702:exon7:c.G1075A:p.E359K,SYNE1:NM_001347701:exon9:c.G1216A:p.E406K,SYNE1:NM_033071:exon135:c.G24397A:p.E8133K,SYNE1:NM_182961:exon136:c.G24610A:p.E8204K",T,D,D,T,N,T
chr6,152555015,152555015,C,T,R007_S,SYNE1,Silent,NM_033071,exon111,c.G20400A,p.K6800K,SNP,SNVindel,exonic,SYNE1,NA,synonymous SNV,"SYNE1:NM_033071:exon111:c.G20400A:p.K6800K,SYNE1:NM_182961:exon112:c.G20613A:p.K6871K",NA,NA,NA,NA,NA,NA
chr6,152599353,152599353,C,T,R007_S,SYNE1,Silent,NM_033071,exon97,c.G18231A,p.E6077E,SNP,SNVindel,exonic,SYNE1,NA,synonymous SNV,"SYNE1:NM_033071:exon97:c.G18231A:p.E6077E,SYNE1:NM_182961:exon98:c.G18444A:p.E6148E",NA,NA,NA,NA,NA,NA
chr6,154727628,154727628,C,T,R007_S,CNKSR3,Missense_Mutation,NM_001368119,exon10,c.G1003A,p.D335N,SNP,SNVindel,exonic,CNKSR3,NA,nonsynonymous SNV,"CNKSR3:NM_001368119:exon10:c.G1003A:p.D335N,CNKSR3:NM_001368116:exon13:c.G1546A:p.D516N,CNKSR3:NM_001368118:exon13:c.G1288A:p.D430N,CNKSR3:NM_173515:exon13:c.G1528A:p.D510N",T,D,D,T,N,T
chr6,155116181,155116181,C,T,R007_S,SCAF8,Nonsense_Mutation,NM_014892,exon6,c.C514T,p.Q172X,SNP,SNVindel,exonic,SCAF8,NA,stopgain,"SCAF8:NM_014892:exon6:c.C514T:p.Q172X,SCAF8:NM_001286188:exon7:c.C748T:p.Q250X,SCAF8:NM_001286194:exon7:c.C649T:p.Q217X,SCAF8:NM_001286199:exon7:c.C514T:p.Q172X,SCAF8:NM_001286189:exon8:c.C712T:p.Q238X",.,U,A,.,.,.
chr6,155451283,155451283,G,A,R007_S,TIAM2,Missense_Mutation,NM_012454,exon3,c.G926A,p.G309E,SNP,SNVindel,exonic,TIAM2,NA,nonsynonymous SNV,TIAM2:NM_012454:exon3:c.G926A:p.G309E,T,N,D,T,N,T
chr6,158502229,158502229,G,A,R007_S,SYNJ2,Missense_Mutation,NM_001178088,exon18,c.G1945A,p.G649S,SNP,SNVindel,exonic,SYNJ2,NA,nonsynonymous SNV,"SYNJ2:NM_001178088:exon18:c.G1945A:p.G649S,SYNJ2:NM_003898:exon19:c.G2656A:p.G886S",D,D,D,D,D,D
chr6,158535898,158535898,C,T,R007_S,SERAC1,Missense_Mutation,NM_032861,exon15,c.G1607A,p.G536E,SNP,SNVindel,exonic,SERAC1,NA,nonsynonymous SNV,SERAC1:NM_032861:exon15:c.G1607A:p.G536E,D,D,D,D,D,D
chr6,158538838,158538838,C,T,R007_S,SERAC1,Missense_Mutation,NM_032861,exon13,c.G1324A,p.D442N,SNP,SNVindel,exonic,SERAC1,NA,nonsynonymous SNV,SERAC1:NM_032861:exon13:c.G1324A:p.D442N,D,D,D,D,D,D
chr6,158923887,158923887,C,T,R007_S,TULP4,Silent,NM_020245,exon13,c.C3192T,p.S1064S,SNP,SNVindel,exonic,TULP4,NA,synonymous SNV,TULP4:NM_020245:exon13:c.C3192T:p.S1064S,NA,NA,NA,NA,NA,NA
chr6,159642635,159642635,G,A,R007_S,FNDC1,Missense_Mutation,NM_032532,exon6,c.G673A,p.E225K,SNP,SNVindel,exonic,FNDC1,NA,nonsynonymous SNV,FNDC1:NM_032532:exon6:c.G673A:p.E225K,D,D,D,T,N,T
chr6,160239616,160239616,C,T,R007_S,PNLDC1,Missense_Mutation,NM_001271862,exon16,c.C1187T,p.P396L,SNP,SNVindel,exonic,PNLDC1,NA,nonsynonymous SNV,"PNLDC1:NM_001271862:exon16:c.C1187T:p.P396L,PNLDC1:NM_173516:exon16:c.C1154T:p.P385L",D,N,D,.,N,T
chr6,160461692,160461692,C,T,R007_S,IGF2R,Silent,NM_000876,exon11,c.C1416T,p.D472D,SNP,SNVindel,exonic,IGF2R,NA,synonymous SNV,IGF2R:NM_000876:exon11:c.C1416T:p.D472D,NA,NA,NA,NA,NA,NA
chr6,160495000,160495000,C,T,R007_S,IGF2R,Missense_Mutation,NM_000876,exon35,c.C5159T,p.P1720L,SNP,SNVindel,exonic,IGF2R,NA,nonsynonymous SNV,IGF2R:NM_000876:exon35:c.C5159T:p.P1720L,D,N,N,T,D,T
chr6,163984624,163984624,C,T,R007_S,QKI,Silent,NM_001301085,exon6,c.C783T,p.H261H,SNP,SNVindel,exonic,QKI,NA,synonymous SNV,"QKI:NM_001301085:exon6:c.C783T:p.H261H,QKI:NM_006775:exon6:c.C807T:p.H269H,QKI:NM_206853:exon6:c.C807T:p.H269H,QKI:NM_206854:exon6:c.C807T:p.H269H,QKI:NM_206855:exon6:c.C807T:p.H269H",NA,NA,NA,NA,NA,NA
chr6,167413581,167413581,G,A,R007_S,FGFR1OP,Missense_Mutation,NM_001278690,exon2,c.G136A,p.E46K,SNP,SNVindel,exonic,FGFR1OP,NA,nonsynonymous SNV,"FGFR1OP:NM_001278690:exon2:c.G136A:p.E46K,FGFR1OP:NM_007045:exon2:c.G136A:p.E46K,FGFR1OP:NM_194429:exon2:c.G136A:p.E46K",D,D,D,T,D,T
chr6,169632994,169632994,G,A,R007_S,THBS2,Silent,NM_003247,exon12,c.C1770T,p.D590D,SNP,SNVindel,exonic,THBS2,NA,synonymous SNV,THBS2:NM_003247:exon12:c.C1770T:p.D590D,NA,NA,NA,NA,NA,NA
chr6,170102920,170102920,C,T,R007_S,C6orf120,Missense_Mutation,NM_001029863,exon1,c.C365T,p.P122L,SNP,SNVindel,exonic,C6orf120,NA,nonsynonymous SNV,"C6orf120:NM_001029863:exon1:c.C365T:p.P122L,C6orf120:NM_001317342:exon2:c.C422T:p.P141L",T,U,D,.,D,T
chr6,170112513,170112513,C,T,R007_S,PHF10,Missense_Mutation,NM_018288,exon8,c.G926A,p.G309D,SNP,SNVindel,exonic,PHF10,NA,nonsynonymous SNV,"PHF10:NM_018288:exon8:c.G926A:p.G309D,PHF10:NM_133325:exon8:c.G920A:p.G307D",T,D,D,D,N,T
chr7,540874,540874,G,A,R007_S,PDGFA,Silent,NM_002607,exon5,c.C459T,p.A153A,SNP,SNVindel,exonic,PDGFA,NA,synonymous SNV,"PDGFA:NM_002607:exon5:c.C459T:p.A153A,PDGFA:NM_033023:exon5:c.C459T:p.A153A",NA,NA,NA,NA,NA,NA
chr7,893120,893120,C,T,R007_S,SUN1,Silent,NM_001171944,exon8,c.C819T,p.C273C,SNP,SNVindel,exonic,SUN1,NA,synonymous SNV,"SUN1:NM_001171944:exon8:c.C819T:p.C273C,SUN1:NM_001367708:exon9:c.C561T:p.C187C,SUN1:NM_025154:exon9:c.C879T:p.C293C,SUN1:NM_001130965:exon10:c.C1128T:p.C376C,SUN1:NM_001367639:exon10:c.C669T:p.C223C,SUN1:NM_001367648:exon10:c.C990T:p.C330C,SUN1:NM_001367660:exon10:c.C978T:p.C326C,SUN1:NM_001367662:exon10:c.C975T:p.C325C,SUN1:NM_001367670:exon10:c.C978T:p.C326C,SUN1:NM_001367671:exon10:c.C975T:p.C325C,SUN1:NM_001367686:exon10:c.C960T:p.C320C,SUN1:NM_001367633:exon11:c.C1128T:p.C376C,SUN1:NM_001367642:exon11:c.C1113T:p.C371C,SUN1:NM_001367644:exon11:c.C1059T:p.C353C,SUN1:NM_001367645:exon11:c.C1089T:p.C363C,SUN1:NM_001367653:exon11:c.C1128T:p.C376C,SUN1:NM_001367658:exon11:c.C414T:p.C138C,SUN1:NM_001367665:exon11:c.C1125T:p.C375C,SUN1:NM_001367667:exon11:c.C1089T:p.C363C,SUN1:NM_001367669:exon11:c.C1155T:p.C385C,SUN1:NM_001367672:exon11:c.C1128T:p.C376C,SUN1:NM_001367679:exon11:c.C1086T:p.C362C,SUN1:NM_001367680:exon11:c.C1062T:p.C354C,SUN1:NM_001367681:exon11:c.C1176T:p.C392C,SUN1:NM_001367689:exon11:c.C1089T:p.C363C,SUN1:NM_001367694:exon11:c.C1125T:p.C375C,SUN1:NM_001367695:exon11:c.C1050T:p.C350C,SUN1:NM_001367701:exon11:c.C1062T:p.C354C,SUN1:NM_001367702:exon11:c.C1140T:p.C380C,SUN1:NM_001367704:exon11:c.C1140T:p.C380C,SUN1:NM_001367634:exon12:c.C1128T:p.C376C,SUN1:NM_001367635:exon12:c.C777T:p.C259C,SUN1:NM_001367638:exon12:c.C1236T:p.C412C,SUN1:NM_001367640:exon12:c.C1308T:p.C436C,SUN1:NM_001367646:exon12:c.C1257T:p.C419C,SUN1:NM_001367647:exon12:c.C1170T:p.C390C,SUN1:NM_001367649:exon12:c.C1173T:p.C391C,SUN1:NM_001367664:exon12:c.C1239T:p.C413C,SUN1:NM_001367668:exon12:c.C1170T:p.C390C,SUN1:NM_001367673:exon12:c.C1260T:p.C420C,SUN1:NM_001367674:exon12:c.C1326T:p.C442C,SUN1:NM_001367675:exon12:c.C1311T:p.C437C,SUN1:NM_001367676:exon12:c.C1311T:p.C437C,SUN1:NM_001367683:exon12:c.C1212T:p.C404C,SUN1:NM_001367684:exon12:c.C1287T:p.C429C,SUN1:NM_001367685:exon12:c.C1239T:p.C413C,SUN1:NM_001367688:exon12:c.C1209T:p.C403C,SUN1:NM_001367696:exon12:c.C1239T:p.C413C,SUN1:NM_001367700:exon12:c.C1338T:p.C446C,SUN1:NM_001367706:exon12:c.C1260T:p.C420C,SUN1:NM_001367636:exon13:c.C1368T:p.C456C,SUN1:NM_001367641:exon13:c.C1410T:p.C470C,SUN1:NM_001367643:exon13:c.C1320T:p.C440C,SUN1:NM_001367651:exon13:c.C1542T:p.C514C,SUN1:NM_001367655:exon13:c.C1371T:p.C457C,SUN1:NM_001367666:exon13:c.C1371T:p.C457C,SUN1:NM_001367677:exon13:c.C1434T:p.C478C,SUN1:NM_001367682:exon13:c.C1410T:p.C470C,SUN1:NM_001367690:exon13:c.C1419T:p.C473C,SUN1:NM_001367691:exon13:c.C1368T:p.C456C,SUN1:NM_001367692:exon13:c.C1437T:p.C479C,SUN1:NM_001367693:exon13:c.C1323T:p.C441C,SUN1:NM_001367697:exon13:c.C1323T:p.C441C,SUN1:NM_001367698:exon13:c.C1407T:p.C469C,SUN1:NM_001367678:exon14:c.C1518T:p.C506C,SUN1:NM_001367687:exon14:c.C1518T:p.C506C,SUN1:NM_001367699:exon14:c.C1518T:p.C506C,SUN1:NM_001367703:exon14:c.C1521T:p.C507C,SUN1:NM_001367705:exon14:c.C1521T:p.C507C",NA,NA,NA,NA,NA,NA
chr7,916309,916309,G,A,R007_S,GET4,Silent,NM_015949,exon1,c.G27A,p.E9E,SNP,SNVindel,exonic,GET4,NA,synonymous SNV,GET4:NM_015949:exon1:c.G27A:p.E9E,NA,NA,NA,NA,NA,NA
chr7,926251,926251,G,A,R007_S,GET4,Missense_Mutation,NM_015949,exon3,c.G280A,p.E94K,SNP,SNVindel,exonic,GET4,NA,nonsynonymous SNV,GET4:NM_015949:exon3:c.G280A:p.E94K,T,D,D,T,N,T
chr7,932035,932035,C,T,R007_S,GET4,Silent,NM_015949,exon6,c.C726T,p.F242F,SNP,SNVindel,exonic,GET4,NA,synonymous SNV,GET4:NM_015949:exon6:c.C726T:p.F242F,NA,NA,NA,NA,NA,NA
chr7,939746,939746,C,T,R007_S,ADAP1,Missense_Mutation,NM_001284311,exon6,c.G503A,p.G168E,SNP,SNVindel,exonic,ADAP1,NA,nonsynonymous SNV,"ADAP1:NM_001284311:exon6:c.G503A:p.G168E,ADAP1:NM_001284310:exon7:c.G572A:p.G191E,ADAP1:NM_001284308:exon8:c.G821A:p.G274E,ADAP1:NM_001284309:exon8:c.G572A:p.G191E,ADAP1:NM_006869:exon8:c.G788A:p.G263E",D,N,D,T,D,T
chr7,966273,966273,G,A,R007_S,ADAP1,Missense_Mutation,NM_001284310,exon2,c.C5T,p.A2V,SNP,SNVindel,exonic,ADAP1,NA,nonsynonymous SNV,"ADAP1:NM_001284310:exon2:c.C5T:p.A2V,ADAP1:NM_001284308:exon3:c.C254T:p.A85V,ADAP1:NM_001284309:exon3:c.C5T:p.A2V,ADAP1:NM_006869:exon3:c.C221T:p.A74V",T,U,D,T,N,T
chr7,1510246,1510246,G,A,R007_S,INTS1,Silent,NM_001080453,exon48,c.C6540T,p.A2180A,SNP,SNVindel,exonic,INTS1,NA,synonymous SNV,INTS1:NM_001080453:exon48:c.C6540T:p.A2180A,NA,NA,NA,NA,NA,NA
chr7,1516430,1516430,C,T,R007_S,INTS1,Missense_Mutation,NM_001080453,exon36,c.G5063A,p.R1688K,SNP,SNVindel,exonic,INTS1,NA,nonsynonymous SNV,INTS1:NM_001080453:exon36:c.G5063A:p.R1688K,T,D,D,T,N,T
chr7,1538387,1538387,G,A,R007_S,INTS1,Silent,NM_001080453,exon9,c.C1239T,p.R413R,SNP,SNVindel,exonic,INTS1,NA,synonymous SNV,INTS1:NM_001080453:exon9:c.C1239T:p.R413R,NA,NA,NA,NA,NA,NA
chr7,1538770,1538770,C,T,R007_S,INTS1,Silent,NM_001080453,exon8,c.G978A,p.E326E,SNP,SNVindel,exonic,INTS1,NA,synonymous SNV,INTS1:NM_001080453:exon8:c.G978A:p.E326E,NA,NA,NA,NA,NA,NA
chr7,1784989,1784989,G,A,R007_S,ELFN1,Missense_Mutation,NM_001128636,exon3,c.G757A,p.D253N,SNP,SNVindel,exonic,ELFN1,NA,nonsynonymous SNV,ELFN1:NM_001128636:exon3:c.G757A:p.D253N,D,.,D,T,N,.
chr7,2255844,2255844,G,A,R007_S,MAD1L1,Missense_Mutation,NM_001304524,exon6,c.C481T,p.P161S,SNP,SNVindel,exonic,MAD1L1,NA,nonsynonymous SNV,"MAD1L1:NM_001304524:exon6:c.C481T:p.P161S,MAD1L1:NM_001304523:exon7:c.C757T:p.P253S,MAD1L1:NM_001013836:exon8:c.C757T:p.P253S,MAD1L1:NM_001013837:exon8:c.C757T:p.P253S,MAD1L1:NM_003550:exon8:c.C757T:p.P253S",T,D,D,T,D,T
chr7,2406064,2406064,G,A,R007_S,EIF3B,Missense_Mutation,NM_001037283,exon7,c.G1270A,p.A424T,SNP,SNVindel,exonic,EIF3B,NA,nonsynonymous SNV,"EIF3B:NM_001037283:exon7:c.G1270A:p.A424T,EIF3B:NM_001362791:exon7:c.G1270A:p.A424T,EIF3B:NM_003751:exon7:c.G1270A:p.A424T,EIF3B:NM_001362792:exon8:c.G454A:p.A152T,EIF3B:NM_001362793:exon8:c.G454A:p.A152T",T,D,D,T,N,T
chr7,2627508,2627508,G,A,R007_S,IQCE,Silent,NM_001287501,exon11,c.G846A,p.E282E,SNP,SNVindel,exonic,IQCE,NA,synonymous SNV,"IQCE:NM_001287501:exon11:c.G846A:p.E282E,IQCE:NM_001287502:exon11:c.G846A:p.E282E,IQCE:NM_001287500:exon12:c.G993A:p.E331E,IQCE:NM_001287499:exon13:c.G1041A:p.E347E,IQCE:NM_152558:exon13:c.G1041A:p.E347E",NA,NA,NA,NA,NA,NA
chr7,2695755,2695755,G,A,R007_S,TTYH3,Silent,NM_025250,exon10,c.G1050A,p.L350L,SNP,SNVindel,exonic,TTYH3,NA,synonymous SNV,TTYH3:NM_025250:exon10:c.G1050A:p.L350L,NA,NA,NA,NA,NA,NA
chr7,2949733,2949733,G,A,R007_S,CARD11,Missense_Mutation,NM_032415,exon24,c.C3211T,p.P1071S,SNP,SNVindel,exonic,CARD11,NA,nonsynonymous SNV,"CARD11:NM_032415:exon24:c.C3211T:p.P1071S,CARD11:NM_001324281:exon25:c.C3211T:p.P1071S",D,D,D,T,D,T
chr7,2962848,2962848,G,A,R007_S,CARD11,Missense_Mutation,NM_032415,exon16,c.C2060T,p.A687V,SNP,SNVindel,exonic,CARD11,NA,nonsynonymous SNV,"CARD11:NM_032415:exon16:c.C2060T:p.A687V,CARD11:NM_001324281:exon17:c.C2060T:p.A687V",T,D,D,T,N,T
chr7,2968318,2968318,G,A,R007_S,CARD11,Silent,NM_032415,exon13,c.C1668T,p.S556S,SNP,SNVindel,exonic,CARD11,NA,synonymous SNV,"CARD11:NM_032415:exon13:c.C1668T:p.S556S,CARD11:NM_001324281:exon14:c.C1668T:p.S556S",NA,NA,NA,NA,NA,NA
chr7,3681599,3681599,G,A,R007_S,SDK1,Missense_Mutation,NM_152744,exon4,c.G575A,p.S192N,SNP,SNVindel,exonic,SDK1,NA,nonsynonymous SNV,SDK1:NM_152744:exon4:c.G575A:p.S192N,T,N,N,T,N,T
chr7,4050693,4050693,G,A,R007_S,SDK1,Missense_Mutation,NM_152744,exon15,c.G2227A,p.V743M,SNP,SNVindel,exonic,SDK1,NA,nonsynonymous SNV,SDK1:NM_152744:exon15:c.G2227A:p.V743M,D,D,D,T,N,D
chr7,4780566,4780566,C,T,R007_S,FOXK1,Missense_Mutation,NM_001037165,exon2,c.C658T,p.P220S,SNP,SNVindel,exonic,FOXK1,NA,nonsynonymous SNV,FOXK1:NM_001037165:exon2:c.C658T:p.P220S,D,D,D,D,D,D
chr7,4899705,4899705,C,T,R007_S,PAPOLB,Silent,NM_020144,exon1,c.G1737A,p.Q579Q,SNP,SNVindel,exonic,PAPOLB,NA,synonymous SNV,PAPOLB:NM_020144:exon1:c.G1737A:p.Q579Q,NA,NA,NA,NA,NA,NA
chr7,5417648,5417648,G,A,R007_S,TNRC18,Silent,NM_001080495,exon6,c.C2160T,p.G720G,SNP,SNVindel,exonic,TNRC18,NA,synonymous SNV,TNRC18:NM_001080495:exon6:c.C2160T:p.G720G,NA,NA,NA,NA,NA,NA
chr7,5430122,5430122,C,T,R007_S,TNRC18,Missense_Mutation,NM_001080495,exon4,c.G481A,p.G161R,SNP,SNVindel,exonic,TNRC18,NA,nonsynonymous SNV,TNRC18:NM_001080495:exon4:c.G481A:p.G161R,T,.,N,T,N,T
chr7,5540827,5540827,G,A,R007_S,FBXL18,Missense_Mutation,NM_001321213,exon3,c.C1073T,p.S358F,SNP,SNVindel,exonic,FBXL18,NA,nonsynonymous SNV,"FBXL18:NM_001321213:exon3:c.C1073T:p.S358F,FBXL18:NM_001363441:exon3:c.C1073T:p.S358F,FBXL18:NM_001363442:exon3:c.C1073T:p.S358F,FBXL18:NM_001367780:exon3:c.C773T:p.S258F,FBXL18:NM_001367781:exon3:c.C773T:p.S258F,FBXL18:NM_024963:exon3:c.C1073T:p.S358F",T,N,N,T,N,T
chr7,6194077,6194077,G,A,R007_S,USP42,Silent,NM_001365764,exon15,c.G2892A,p.E964E,SNP,SNVindel,exonic,USP42,NA,synonymous SNV,"USP42:NM_001365764:exon15:c.G2892A:p.E964E,USP42:NM_032172:exon15:c.G2892A:p.E964E",NA,NA,NA,NA,NA,NA
chr7,6505775,6505775,G,A,R007_S,KDELR2,Silent,NM_006854,exon4,c.C531T,p.D177D,SNP,SNVindel,exonic,KDELR2,NA,synonymous SNV,KDELR2:NM_006854:exon4:c.C531T:p.D177D,NA,NA,NA,NA,NA,NA
chr7,6579465,6579465,C,T,R007_S,GRID2IP,Silent,NM_001145118,exon2,c.G468A,p.E156E,SNP,SNVindel,exonic,GRID2IP,NA,synonymous SNV,GRID2IP:NM_001145118:exon2:c.G468A:p.E156E,NA,NA,NA,NA,NA,NA
chr7,6623037,6623037,G,A,R007_S,ZDHHC4,Silent,NM_001371293,exon5,c.G471A,p.R157R,SNP,SNVindel,exonic,ZDHHC4,NA,synonymous SNV,"ZDHHC4:NM_001371293:exon5:c.G471A:p.R157R,ZDHHC4:NM_001371298:exon5:c.G411A:p.R137R,ZDHHC4:NM_001134387:exon6:c.G471A:p.R157R,ZDHHC4:NM_001134389:exon6:c.G471A:p.R157R,ZDHHC4:NM_001371292:exon6:c.G471A:p.R157R,ZDHHC4:NM_001371296:exon6:c.G471A:p.R157R,ZDHHC4:NM_001371297:exon6:c.G471A:p.R157R,ZDHHC4:NM_001371299:exon6:c.G471A:p.R157R,ZDHHC4:NM_018106:exon6:c.G471A:p.R157R,ZDHHC4:NM_001134388:exon7:c.G471A:p.R157R,ZDHHC4:NM_001371294:exon7:c.G471A:p.R157R,ZDHHC4:NM_001371295:exon7:c.G471A:p.R157R",NA,NA,NA,NA,NA,NA
chr7,7459570,7459570,G,A,R007_S,COL28A1,Silent,NM_001037763,exon26,c.C2013T,p.V671V,SNP,SNVindel,exonic,COL28A1,NA,synonymous SNV,COL28A1:NM_001037763:exon26:c.C2013T:p.V671V,NA,NA,NA,NA,NA,NA
chr7,7516743,7516743,C,T,R007_S,COL28A1,Silent,NM_001037763,exon14,c.G1233A,p.K411K,SNP,SNVindel,exonic,COL28A1,NA,synonymous SNV,COL28A1:NM_001037763:exon14:c.G1233A:p.K411K,NA,NA,NA,NA,NA,NA
chr7,7571102,7571102,G,A,R007_S,COL28A1,Silent,NM_001037763,exon3,c.C558T,p.I186I,SNP,SNVindel,exonic,COL28A1,NA,synonymous SNV,COL28A1:NM_001037763:exon3:c.C558T:p.I186I,NA,NA,NA,NA,NA,NA
chr7,7629126,7629126,G,A,R007_S,MIOS,Missense_Mutation,NM_001370077,exon7,c.G1975A,p.V659M,SNP,SNVindel,exonic,MIOS,NA,nonsynonymous SNV,"MIOS:NM_001370077:exon7:c.G1975A:p.V659M,MIOS:NM_001370080:exon7:c.G1975A:p.V659M,MIOS:NM_001370076:exon8:c.G1975A:p.V659M,MIOS:NM_019005:exon9:c.G1975A:p.V659M",D,D,D,T,N,T
chr7,8009026,8009026,C,T,R007_S,GLCCI1,Silent,NM_138426,exon1,c.C45T,p.T15T,SNP,SNVindel,exonic,GLCCI1,NA,synonymous SNV,GLCCI1:NM_138426:exon1:c.C45T:p.T15T,NA,NA,NA,NA,NA,NA
chr7,8126004,8126004,G,A,R007_S,GLCCI1,Missense_Mutation,NM_138426,exon8,c.G1480A,p.V494I,SNP,SNVindel,exonic,GLCCI1,NA,nonsynonymous SNV,GLCCI1:NM_138426:exon8:c.G1480A:p.V494I,T,N,D,.,N,T
chr7,8167558,8167558,G,A,R007_S,ICA1,Silent,NM_001350838,exon11,c.C1050T,p.F350F,SNP,SNVindel,exonic,ICA1,NA,synonymous SNV,"ICA1:NM_001350838:exon11:c.C1050T:p.F350F,ICA1:NM_001350831:exon12:c.C1212T:p.F404F,ICA1:NM_001350832:exon12:c.C1212T:p.F404F,ICA1:NM_001350833:exon12:c.C1212T:p.F404F,ICA1:NM_001350834:exon12:c.C1209T:p.F403F,ICA1:NM_001136020:exon13:c.C1275T:p.F425F,ICA1:NM_001276478:exon13:c.C1272T:p.F424F,ICA1:NM_001350819:exon13:c.C1275T:p.F425F,ICA1:NM_001350820:exon13:c.C1275T:p.F425F,ICA1:NM_001350821:exon13:c.C1272T:p.F424F,ICA1:NM_001350823:exon13:c.C1272T:p.F424F,ICA1:NM_001350824:exon13:c.C1272T:p.F424F,ICA1:NM_001350825:exon13:c.C1272T:p.F424F,ICA1:NM_001350830:exon13:c.C1296T:p.F432F,ICA1:NM_004968:exon13:c.C1275T:p.F425F,ICA1:NM_022307:exon13:c.C1275T:p.F425F,ICA1:NM_001350826:exon14:c.C1362T:p.F454F,ICA1:NM_001350827:exon14:c.C1362T:p.F454F,ICA1:NM_001350828:exon14:c.C1359T:p.F453F,ICA1:NM_001350829:exon14:c.C1359T:p.F453F,ICA1:NM_001350835:exon14:c.C1053T:p.F351F,ICA1:NM_001350836:exon14:c.C1053T:p.F351F,ICA1:NM_001350837:exon14:c.C1053T:p.F351F",NA,NA,NA,NA,NA,NA
chr7,11076114,11076114,G,A,R007_S,PHF14,Missense_Mutation,NM_001007157,exon9,c.G1672A,p.A558T,SNP,SNVindel,exonic,PHF14,NA,nonsynonymous SNV,"PHF14:NM_001007157:exon9:c.G1672A:p.A558T,PHF14:NM_014660:exon9:c.G1672A:p.A558T",T,D,D,T,N,T
chr7,12395789,12395789,G,A,R007_S,VWDE,Silent,NM_001346972,exon16,c.C3348T,p.S1116S,SNP,SNVindel,exonic,VWDE,NA,synonymous SNV,"VWDE:NM_001346972:exon16:c.C3348T:p.S1116S,VWDE:NM_001346973:exon16:c.C2883T:p.S961S,VWDE:NM_001135924:exon18:c.C3693T:p.S1231S",NA,NA,NA,NA,NA,NA
chr7,12412730,12412730,C,T,R007_S,VWDE,Missense_Mutation,NM_001135924,exon10,c.G1460A,p.G487D,SNP,SNVindel,exonic,VWDE,NA,nonsynonymous SNV,VWDE:NM_001135924:exon10:c.G1460A:p.G487D,T,.,N,T,N,T
chr7,13971178,13971178,G,A,R007_S,ETV1,Missense_Mutation,NM_001163151,exon4,c.C577T,p.P193S,SNP,SNVindel,exonic,ETV1,NA,nonsynonymous SNV,"ETV1:NM_001163151:exon4:c.C577T:p.P193S,ETV1:NM_001163152:exon4:c.C442T:p.P148S,ETV1:NM_001163150:exon5:c.C631T:p.P211S,ETV1:NM_001163149:exon7:c.C697T:p.P233S,ETV1:NM_001370556:exon7:c.C703T:p.P235S,ETV1:NM_001163147:exon8:c.C751T:p.P251S,ETV1:NM_001163148:exon8:c.C697T:p.P233S,ETV1:NM_001370555:exon8:c.C751T:p.P251S,ETV1:NM_004956:exon9:c.C751T:p.P251S",T,D,D,T,D,T
chr7,14661011,14661011,C,T,R007_S,DGKB,Missense_Mutation,NM_001350720,exon13,c.G1222A,p.G408S,SNP,SNVindel,exonic,DGKB,NA,nonsynonymous SNV,"DGKB:NM_001350720:exon13:c.G1222A:p.G408S,DGKB:NM_001350721:exon13:c.G1222A:p.G408S,DGKB:NM_001350711:exon14:c.G1255A:p.G419S,DGKB:NM_001350712:exon14:c.G1255A:p.G419S,DGKB:NM_001350714:exon14:c.G1255A:p.G419S,DGKB:NM_001350715:exon14:c.G1258A:p.G420S,DGKB:NM_001350716:exon14:c.G1258A:p.G420S,DGKB:NM_001350717:exon14:c.G1243A:p.G415S,DGKB:NM_001350718:exon14:c.G1243A:p.G415S,DGKB:NM_001350719:exon14:c.G1243A:p.G415S,DGKB:NM_001350724:exon14:c.G1129A:p.G377S,DGKB:NM_145695:exon14:c.G1279A:p.G427S,DGKB:NM_001350705:exon15:c.G1279A:p.G427S,DGKB:NM_001350706:exon15:c.G1279A:p.G427S,DGKB:NM_001350707:exon15:c.G1276A:p.G426S,DGKB:NM_001350708:exon15:c.G1276A:p.G426S,DGKB:NM_001350709:exon15:c.G1276A:p.G426S,DGKB:NM_001350722:exon15:c.G1153A:p.G385S,DGKB:NM_001350723:exon15:c.G1153A:p.G385S",T,D,D,T,N,T
chr7,16640486,16640486,G,A,R007_S,ANKMY2,Missense_Mutation,NM_020319,exon10,c.C1226T,p.P409L,SNP,SNVindel,exonic,ANKMY2,NA,nonsynonymous SNV,ANKMY2:NM_020319:exon10:c.C1226T:p.P409L,D,N,N,T,N,T
chr7,17382555,17382555,G,A,R007_S,AHR,Missense_Mutation,NM_001621,exon11,c.G2414A,p.G805E,SNP,SNVindel,exonic,AHR,NA,nonsynonymous SNV,AHR:NM_001621:exon11:c.G2414A:p.G805E,D,N,D,T,D,T
chr7,18788673,18788673,G,A,R007_S,HDAC9,Missense_Mutation,NM_001321877,exon13,c.G1823A,p.G608D,SNP,SNVindel,exonic,HDAC9,NA,nonsynonymous SNV,"HDAC9:NM_001321877:exon13:c.G1823A:p.G608D,HDAC9:NM_058176:exon13:c.G1946A:p.G649D,HDAC9:NM_178425:exon13:c.G1955A:p.G652D,HDAC9:NM_001321868:exon14:c.G1880A:p.G627D,HDAC9:NM_001321897:exon14:c.G1823A:p.G608D,HDAC9:NM_178423:exon14:c.G1946A:p.G649D",D,D,D,T,D,T
chr7,18975557,18975557,G,A,R007_S,HDAC9,Missense_Mutation,NM_001321877,exon22,c.G2797A,p.G933R,SNP,SNVindel,exonic,HDAC9,NA,nonsynonymous SNV,"HDAC9:NM_001321877:exon22:c.G2797A:p.G933R,HDAC9:NM_058176:exon22:c.G2920A:p.G974R,HDAC9:NM_178425:exon22:c.G2929A:p.G977R,HDAC9:NM_001321868:exon23:c.G2854A:p.G952R,HDAC9:NM_001321897:exon23:c.G2797A:p.G933R,HDAC9:NM_178423:exon23:c.G2920A:p.G974R",D,D,D,T,D,T
chr7,20198305,20198305,A,G,R007_S,MACC1,Missense_Mutation,NM_182762,exon5,c.T1679C,p.V560A,SNP,SNVindel,exonic,MACC1,NA,nonsynonymous SNV,MACC1:NM_182762:exon5:c.T1679C:p.V560A,D,D,D,T,D,T
chr7,20198308,20198308,G,A,R007_S,MACC1,Missense_Mutation,NM_182762,exon5,c.C1676T,p.A559V,SNP,SNVindel,exonic,MACC1,NA,nonsynonymous SNV,MACC1:NM_182762:exon5:c.C1676T:p.A559V,D,D,D,T,N,T
chr7,20199825,20199825,G,A,R007_S,MACC1,Silent,NM_182762,exon5,c.C159T,p.F53F,SNP,SNVindel,exonic,MACC1,NA,synonymous SNV,MACC1:NM_182762:exon5:c.C159T:p.F53F,NA,NA,NA,NA,NA,NA
chr7,20420433,20420433,G,A,R007_S,ITGB8,Missense_Mutation,NM_002214,exon5,c.G780A,p.M260I,SNP,SNVindel,exonic,ITGB8,NA,nonsynonymous SNV,ITGB8:NM_002214:exon5:c.G780A:p.M260I,T,D,D,D,N,D
chr7,20685436,20685436,G,A,R007_S,ABCB5,Missense_Mutation,NM_001163941,exon8,c.G736A,p.A246T,SNP,SNVindel,exonic,ABCB5,NA,nonsynonymous SNV,ABCB5:NM_001163941:exon8:c.G736A:p.A246T,D,.,D,D,D,D
chr7,20691193,20691193,G,A,R007_S,ABCB5,Missense_Mutation,NM_001163942,exon4,c.G148A,p.E50K,SNP,SNVindel,exonic,ABCB5,NA,nonsynonymous SNV,"ABCB5:NM_001163942:exon4:c.G148A:p.E50K,ABCB5:NM_001163993:exon4:c.G148A:p.E50K,ABCB5:NM_178559:exon4:c.G148A:p.E50K,ABCB5:NM_001163941:exon13:c.G1483A:p.E495K",T,N,D,D,N,T
chr7,20767977,20767977,T,C,R007_S,ABCB5,Silent,NM_178559,exon14,c.T1431C,p.Y477Y,SNP,SNVindel,exonic,ABCB5,NA,synonymous SNV,"ABCB5:NM_178559:exon14:c.T1431C:p.Y477Y,ABCB5:NM_001163941:exon23:c.T2766C:p.Y922Y",NA,NA,NA,NA,NA,NA
chr7,21470038,21470038,G,A,R007_S,SP4,Missense_Mutation,NM_001326542,exon3,c.G1204A,p.A402T,SNP,SNVindel,exonic,SP4,NA,nonsynonymous SNV,"SP4:NM_001326542:exon3:c.G1204A:p.A402T,SP4:NM_001326543:exon3:c.G316A:p.A106T,SP4:NM_003112:exon3:c.G1255A:p.A419T",D,D,D,T,N,T
chr7,21600695,21600695,G,A,R007_S,DNAH11,Missense_Mutation,NM_001277115,exon5,c.G889A,p.A297T,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon5:c.G889A:p.A297T,T,N,N,T,N,T
chr7,21946187,21946187,G,A,R007_S,CDCA7L,Missense_Mutation,NM_001127371,exon4,c.C614T,p.S205F,SNP,SNVindel,exonic,CDCA7L,NA,nonsynonymous SNV,"CDCA7L:NM_001127371:exon4:c.C614T:p.S205F,CDCA7L:NM_018719:exon5:c.C752T:p.S251F,CDCA7L:NM_001127370:exon6:c.C650T:p.S217F",D,N,N,T,D,T
chr7,22769135,22769135,G,A,R007_S,IL6,Silent,NM_001318095,exon3,c.G99A,p.E33E,SNP,SNVindel,exonic,IL6,NA,synonymous SNV,"IL6:NM_001318095:exon3:c.G99A:p.E33E,IL6:NM_000600:exon4:c.G327A:p.E109E,IL6:NM_001371096:exon4:c.G258A:p.E86E",NA,NA,NA,NA,NA,NA
chr7,23728990,23728990,C,T,R007_S,FAM221A,Silent,NM_001127365,exon2,c.C168T,p.V56V,SNP,SNVindel,exonic,FAM221A,NA,synonymous SNV,"FAM221A:NM_001127365:exon2:c.C168T:p.V56V,FAM221A:NM_001300932:exon2:c.C168T:p.V56V,FAM221A:NM_001127364:exon3:c.C342T:p.V114V,FAM221A:NM_199136:exon3:c.C342T:p.V114V",NA,NA,NA,NA,NA,NA
chr7,26236026,26236026,C,T,R007_S,HNRNPA2B1,Missense_Mutation,NM_002137,exon6,c.G653A,p.G218E,SNP,SNVindel,exonic,HNRNPA2B1,NA,nonsynonymous SNV,"HNRNPA2B1:NM_002137:exon6:c.G653A:p.G218E,HNRNPA2B1:NM_031243:exon7:c.G689A:p.G230E",T,N,D,D,D,D
chr7,27211628,27211628,G,A,R007_S,HOXA10,Missense_Mutation,NM_018951,exon2,c.C1123T,p.L375F,SNP,SNVindel,exonic,HOXA10,NA,nonsynonymous SNV,HOXA10:NM_018951:exon2:c.C1123T:p.L375F,D,D,D,D,D,D
chr7,27224119,27224119,G,A,R007_S,HOXA11,Silent,NM_005523,exon1,c.C645T,p.R215R,SNP,SNVindel,exonic,HOXA11,NA,synonymous SNV,HOXA11:NM_005523:exon1:c.C645T:p.R215R,NA,NA,NA,NA,NA,NA
chr7,28997289,28997289,C,T,R007_S,TRIL,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TRIL,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr7,30491668,30491668,G,A,R007_S,NOD1,Silent,NM_001354849,exon6,c.C1365T,p.A455A,SNP,SNVindel,exonic,NOD1,NA,synonymous SNV,"NOD1:NM_001354849:exon6:c.C1365T:p.A455A,NOD1:NM_006092:exon6:c.C1365T:p.A455A",NA,NA,NA,NA,NA,NA
chr7,30704755,30704755,G,A,R007_S,CRHR2,Silent,NM_001202482,exon5,c.C471T,p.T157T,SNP,SNVindel,exonic,CRHR2,NA,synonymous SNV,"CRHR2:NM_001202482:exon5:c.C471T:p.T157T,CRHR2:NM_001202483:exon5:c.C474T:p.T158T,CRHR2:NM_001883:exon5:c.C474T:p.T158T,CRHR2:NM_001202475:exon6:c.C555T:p.T185T,CRHR2:NM_001202481:exon7:c.C432T:p.T144T",NA,NA,NA,NA,NA,NA
chr7,30795336,30795336,G,A,R007_S,INMT,Missense_Mutation,NM_001199219,exon3,c.G658A,p.V220M,SNP,SNVindel,exonic,INMT,NA,nonsynonymous SNV,"INMT:NM_001199219:exon3:c.G658A:p.V220M,INMT:NM_006774:exon3:c.G661A:p.V221M",D,N,D,T,N,T
chr7,30921884,30921884,G,A,R007_S,MINDY4,Missense_Mutation,NM_032222,exon16,c.G2060A,p.G687E,SNP,SNVindel,exonic,MINDY4,NA,nonsynonymous SNV,MINDY4:NM_032222:exon16:c.G2060A:p.G687E,T,N,N,T,N,T
chr7,31013612,31013612,G,A,R007_S,GHRHR,Missense_Mutation,NM_000823,exon7,c.G610A,p.V204I,SNP,SNVindel,exonic,GHRHR,NA,nonsynonymous SNV,GHRHR:NM_000823:exon7:c.G610A:p.V204I,T,.,D,T,N,T
chr7,31378331,31378331,G,A,R007_S,NEUROD6,Silent,NM_022728,exon2,c.C552T,p.N184N,SNP,SNVindel,exonic,NEUROD6,NA,synonymous SNV,NEUROD6:NM_022728:exon2:c.C552T:p.N184N,NA,NA,NA,NA,NA,NA
chr7,31682321,31682321,G,A,R007_S,ITPRID1,Missense_Mutation,NM_194300,exon10,c.G1337A,p.S446N,SNP,SNVindel,exonic,ITPRID1,NA,nonsynonymous SNV,"ITPRID1:NM_194300:exon10:c.G1337A:p.S446N,ITPRID1:NM_001257968:exon11:c.G1415A:p.S472N,ITPRID1:NM_001257967:exon12:c.G1367A:p.S456N",T,N,N,T,N,T
chr7,31918660,31918660,G,A,R007_S,PDE1C,Missense_Mutation,NM_001191056,exon4,c.C374T,p.P125L,SNP,SNVindel,exonic,PDE1C,NA,nonsynonymous SNV,"PDE1C:NM_001191056:exon4:c.C374T:p.P125L,PDE1C:NM_001191057:exon4:c.C374T:p.P125L,PDE1C:NM_001191058:exon5:c.C554T:p.P185L,PDE1C:NM_001191059:exon5:c.C374T:p.P125L,PDE1C:NM_001322055:exon5:c.C374T:p.P125L,PDE1C:NM_001322056:exon5:c.C374T:p.P125L,PDE1C:NM_001322057:exon5:c.C374T:p.P125L,PDE1C:NM_001322058:exon5:c.C554T:p.P185L,PDE1C:NM_001322059:exon5:c.C779T:p.P260L,PDE1C:NM_005020:exon5:c.C374T:p.P125L",D,D,D,T,D,D
chr7,32909691,32909691,C,T,R007_S,KBTBD2,Missense_Mutation,NM_015483,exon4,c.G1138A,p.G380S,SNP,SNVindel,exonic,KBTBD2,NA,nonsynonymous SNV,KBTBD2:NM_015483:exon4:c.G1138A:p.G380S,T,D,D,D,D,D
chr7,33312656,33312656,C,T,R007_S,BBS9,Silent,NM_001348044,exon5,c.C369T,p.A123A,SNP,SNVindel,exonic,BBS9,NA,synonymous SNV,"BBS9:NM_001348044:exon5:c.C369T:p.A123A,BBS9:NM_001348046:exon5:c.C369T:p.A123A,BBS9:NM_001348045:exon6:c.C369T:p.A123A,BBS9:NM_001348037:exon7:c.C369T:p.A123A,BBS9:NM_001348042:exon7:c.C600T:p.A200A,BBS9:NM_001033604:exon8:c.C735T:p.A245A,BBS9:NM_001033605:exon8:c.C735T:p.A245A,BBS9:NM_001348036:exon8:c.C735T:p.A245A,BBS9:NM_001348038:exon8:c.C462T:p.A154A,BBS9:NM_001348039:exon8:c.C462T:p.A154A,BBS9:NM_001348040:exon8:c.C735T:p.A245A,BBS9:NM_001348041:exon8:c.C735T:p.A245A,BBS9:NM_001348043:exon8:c.C735T:p.A245A,BBS9:NM_001362679:exon8:c.C735T:p.A245A,BBS9:NM_014451:exon8:c.C735T:p.A245A,BBS9:NM_198428:exon8:c.C735T:p.A245A",NA,NA,NA,NA,NA,NA
chr7,33545216,33545216,G,A,R007_S,BBS9,Missense_Mutation,NM_001348044,exon16,c.G1786A,p.E596K,SNP,SNVindel,exonic,BBS9,NA,nonsynonymous SNV,"BBS9:NM_001348044:exon16:c.G1786A:p.E596K,BBS9:NM_001348046:exon17:c.G1891A:p.E631K,BBS9:NM_001348040:exon18:c.G2137A:p.E713K,BBS9:NM_001348045:exon18:c.G1891A:p.E631K,BBS9:NM_014451:exon18:c.G2137A:p.E713K,BBS9:NM_001033604:exon19:c.G2152A:p.E718K,BBS9:NM_001033605:exon19:c.G2242A:p.E748K,BBS9:NM_001348039:exon19:c.G1879A:p.E627K,BBS9:NM_001348042:exon19:c.G2122A:p.E708K,BBS9:NM_001348036:exon20:c.G2257A:p.E753K,BBS9:NM_001348038:exon20:c.G1984A:p.E662K,BBS9:NM_001348041:exon20:c.G2257A:p.E753K,BBS9:NM_001348043:exon20:c.G2257A:p.E753K,BBS9:NM_001362679:exon20:c.G2257A:p.E753K,BBS9:NM_198428:exon20:c.G2257A:p.E753K",D,D,D,T,N,T
chr7,34125669,34125669,C,T,R007_S,BMPER,Silent,NM_001365308,exon13,c.C1710T,p.T570T,SNP,SNVindel,exonic,BMPER,NA,synonymous SNV,"BMPER:NM_001365308:exon13:c.C1710T:p.T570T,BMPER:NM_133468:exon14:c.C1710T:p.T570T",NA,NA,NA,NA,NA,NA
chr7,36194592,36194592,G,A,R007_S,EEPD1,Missense_Mutation,NM_030636,exon2,c.G659A,p.S220N,SNP,SNVindel,exonic,EEPD1,NA,nonsynonymous SNV,EEPD1:NM_030636:exon2:c.G659A:p.S220N,T,D,D,T,N,T
chr7,36396750,36396750,G,A,R007_S,KIAA0895,Missense_Mutation,NM_001199706,exon2,c.C475T,p.H159Y,SNP,SNVindel,exonic,KIAA0895,NA,nonsynonymous SNV,"KIAA0895:NM_001199706:exon2:c.C475T:p.H159Y,KIAA0895:NM_001199707:exon2:c.C589T:p.H197Y,KIAA0895:NM_001199708:exon2:c.C175T:p.H59Y,KIAA0895:NM_015314:exon2:c.C475T:p.H159Y,KIAA0895:NM_001100425:exon3:c.C628T:p.H210Y",T,N,N,.,N,T
chr7,36406322,36406322,G,A,R007_S,KIAA0895,Missense_Mutation,NM_001199707,exon1,c.C130T,p.L44F,SNP,SNVindel,exonic,KIAA0895,NA,nonsynonymous SNV,KIAA0895:NM_001199707:exon1:c.C130T:p.L44F,T,.,N,.,N,T
chr7,36450146,36450146,C,T,R007_S,ANLN,Silent,NM_001284301,exon6,c.C1120T,p.L374L,SNP,SNVindel,exonic,ANLN,NA,synonymous SNV,"ANLN:NM_001284301:exon6:c.C1120T:p.L374L,ANLN:NM_001284302:exon6:c.C1120T:p.L374L,ANLN:NM_018685:exon6:c.C1120T:p.L374L",NA,NA,NA,NA,NA,NA
chr7,36927202,36927202,C,T,R007_S,ELMO1,Silent,NM_001039459,exon3,c.G237A,p.G79G,SNP,SNVindel,exonic,ELMO1,NA,synonymous SNV,"ELMO1:NM_001039459:exon3:c.G237A:p.G79G,ELMO1:NM_130442:exon3:c.G237A:p.G79G,ELMO1:NM_001206480:exon18:c.G1677A:p.G559G,ELMO1:NM_001206482:exon18:c.G1677A:p.G559G,ELMO1:NM_014800:exon18:c.G1677A:p.G559G",NA,NA,NA,NA,NA,NA
chr7,38431588,38431588,G,A,R007_S,AMPH,Missense_Mutation,NM_139316,exon18,c.C1513T,p.P505S,SNP,SNVindel,exonic,AMPH,NA,nonsynonymous SNV,"AMPH:NM_139316:exon18:c.C1513T:p.P505S,AMPH:NM_001635:exon19:c.C1639T:p.P547S",D,D,D,T,D,T
chr7,38857451,38857451,G,A,R007_S,VPS41,Missense_Mutation,NM_080631,exon6,c.C341T,p.S114F,SNP,SNVindel,exonic,VPS41,NA,nonsynonymous SNV,"VPS41:NM_080631:exon6:c.C341T:p.S114F,VPS41:NM_014396:exon7:c.C416T:p.S139F",D,D,D,T,D,T
chr7,40172715,40172715,G,A,R007_S,MPLKIP,Silent,NM_138701,exon2,c.C483T,p.S161S,SNP,SNVindel,exonic,MPLKIP,NA,synonymous SNV,MPLKIP:NM_138701:exon2:c.C483T:p.S161S,NA,NA,NA,NA,NA,NA
chr7,42004874,42004874,C,T,R007_S,GLI3,Missense_Mutation,NM_000168,exon15,c.G3797A,p.G1266D,SNP,SNVindel,exonic,GLI3,NA,nonsynonymous SNV,GLI3:NM_000168:exon15:c.G3797A:p.G1266D,D,N,N,T,N,T
chr7,43921508,43921508,C,T,R007_S,URGCP,Missense_Mutation,NM_001204871,exon3,c.G134A,p.G45E,SNP,SNVindel,exonic,URGCP;URGCP-MRPS24,NA,nonsynonymous SNV,"URGCP-MRPS24:NM_001204871:exon3:c.G134A:p.G45E,URGCP:NM_017920:exon3:c.G134A:p.G45E,URGCP:NM_001077663:exon4:c.G161A:p.G54E,URGCP:NM_001077664:exon4:c.G32A:p.G11E,URGCP:NM_001290075:exon4:c.G32A:p.G11E,URGCP:NM_001290076:exon5:c.G32A:p.G11E",D,N,N,T,N,T
chr7,44151466,44151466,C,T,R007_S,AEBP1,Silent,NM_001129,exon16,c.C1854T,p.F618F,SNP,SNVindel,exonic,AEBP1,NA,synonymous SNV,AEBP1:NM_001129:exon16:c.C1854T:p.F618F,NA,NA,NA,NA,NA,NA
chr7,44153623,44153623,G,A,R007_S,AEBP1,Silent,NM_001129,exon21,c.G3240A,p.E1080E,SNP,SNVindel,exonic,AEBP1,NA,synonymous SNV,AEBP1:NM_001129:exon21:c.G3240A:p.E1080E,NA,NA,NA,NA,NA,NA
chr7,44154487,44154487,G,A,R007_S,POLD2,Missense_Mutation,NM_001127218,exon11,c.C1307T,p.T436I,SNP,SNVindel,exonic,POLD2,NA,nonsynonymous SNV,"POLD2:NM_001127218:exon11:c.C1307T:p.T436I,POLD2:NM_006230:exon11:c.C1412T:p.T471I,POLD2:NM_001256879:exon12:c.C1307T:p.T436I",T,D,D,T,D,T
chr7,44156751,44156751,G,A,R007_S,POLD2,Missense_Mutation,NM_001127218,exon5,c.C562T,p.P188S,SNP,SNVindel,exonic,POLD2,NA,nonsynonymous SNV,"POLD2:NM_001127218:exon5:c.C562T:p.P188S,POLD2:NM_006230:exon5:c.C667T:p.P223S,POLD2:NM_001256879:exon6:c.C562T:p.P188S",T,N,N,T,D,T
chr7,44156765,44156765,G,A,R007_S,POLD2,Missense_Mutation,NM_001127218,exon5,c.C548T,p.P183L,SNP,SNVindel,exonic,POLD2,NA,nonsynonymous SNV,"POLD2:NM_001127218:exon5:c.C548T:p.P183L,POLD2:NM_006230:exon5:c.C653T:p.P218L,POLD2:NM_001256879:exon6:c.C548T:p.P183L",T,N,N,T,D,T
chr7,44259772,44259772,G,A,R007_S,CAMK2B,Silent,NM_172084,exon15,c.C1239T,p.G413G,SNP,SNVindel,exonic,CAMK2B,NA,synonymous SNV,"CAMK2B:NM_172084:exon15:c.C1239T:p.G413G,CAMK2B:NM_172083:exon17:c.C1329T:p.G443G,CAMK2B:NM_172081:exon18:c.C1401T:p.G467G,CAMK2B:NM_172079:exon19:c.C1446T:p.G482G,CAMK2B:NM_172080:exon19:c.C1443T:p.G481G,CAMK2B:NM_172082:exon19:c.C1368T:p.G456G,CAMK2B:NM_001293170:exon20:c.C1518T:p.G506G,CAMK2B:NM_172078:exon20:c.C1518T:p.G506G,CAMK2B:NM_001220:exon23:c.C1890T:p.G630G",NA,NA,NA,NA,NA,NA
chr7,44444066,44444066,C,T,R007_S,NUDCD3,Nonsense_Mutation,NM_015332,exon4,c.G759A,p.W253X,SNP,SNVindel,exonic,NUDCD3,NA,stopgain,NUDCD3:NM_015332:exon4:c.G759A:p.W253X,.,D,A,.,.,.
chr7,44579151,44579151,G,A,R007_S,NPC1L1,Missense_Mutation,NM_001101648,exon2,c.C845T,p.P282L,SNP,SNVindel,exonic,NPC1L1,NA,nonsynonymous SNV,"NPC1L1:NM_001101648:exon2:c.C845T:p.P282L,NPC1L1:NM_001300967:exon2:c.C845T:p.P282L,NPC1L1:NM_013389:exon2:c.C845T:p.P282L",T,N,N,D,N,T
chr7,44608525,44608525,G,A,R007_S,DDX56,Missense_Mutation,NM_001257189,exon10,c.C1240T,p.L414F,SNP,SNVindel,exonic,DDX56,NA,nonsynonymous SNV,"DDX56:NM_001257189:exon10:c.C1240T:p.L414F,DDX56:NM_019082:exon11:c.C1360T:p.L454F",D,D,D,T,N,T
chr7,44619098,44619098,C,T,R007_S,TMED4,Missense_Mutation,NM_001303059,exon4,c.G517A,p.E173K,SNP,SNVindel,exonic,TMED4,NA,nonsynonymous SNV,"TMED4:NM_001303059:exon4:c.G517A:p.E173K,TMED4:NM_001303062:exon4:c.G487A:p.E163K,TMED4:NM_001303061:exon5:c.G487A:p.E163K,TMED4:NM_182547:exon5:c.G664A:p.E222K",T,D,D,T,D,T
chr7,44715671,44715671,C,T,R007_S,OGDH,Missense_Mutation,NM_001003941,exon9,c.C1129T,p.L377F,SNP,SNVindel,exonic,OGDH,NA,nonsynonymous SNV,"OGDH:NM_001003941:exon9:c.C1129T:p.L377F,OGDH:NM_001165036:exon9:c.C1117T:p.L373F,OGDH:NM_002541:exon9:c.C1129T:p.L377F,OGDH:NM_001363523:exon10:c.C1162T:p.L388F",D,D,D,D,D,D
chr7,44737214,44737214,G,A,R007_S,OGDH,Missense_Mutation,NM_001165036,exon17,c.G2179A,p.G727S,SNP,SNVindel,exonic,OGDH,NA,nonsynonymous SNV,"OGDH:NM_001165036:exon17:c.G2179A:p.G727S,OGDH:NM_002541:exon17:c.G2191A:p.G731S,OGDH:NM_001363523:exon18:c.G2224A:p.G742S",D,D,D,D,D,D
chr7,44797590,44797590,C,T,R007_S,ZMIZ2,Silent,NM_174929,exon5,c.C696T,p.T232T,SNP,SNVindel,exonic,ZMIZ2,NA,synonymous SNV,"ZMIZ2:NM_174929:exon5:c.C696T:p.T232T,ZMIZ2:NM_001300959:exon6:c.C600T:p.T200T,ZMIZ2:NM_031449:exon6:c.C696T:p.T232T",NA,NA,NA,NA,NA,NA
chr7,44801336,44801336,C,T,R007_S,ZMIZ2,Silent,NM_174929,exon9,c.C1350T,p.D450D,SNP,SNVindel,exonic,ZMIZ2,NA,synonymous SNV,"ZMIZ2:NM_174929:exon9:c.C1350T:p.D450D,ZMIZ2:NM_001300959:exon10:c.C1254T:p.D418D,ZMIZ2:NM_031449:exon11:c.C1428T:p.D476D",NA,NA,NA,NA,NA,NA
chr7,44802963,44802963,T,C,R007_S,ZMIZ2,Missense_Mutation,NM_174929,exon11,c.T1733C,p.F578S,SNP,SNVindel,exonic,ZMIZ2,NA,nonsynonymous SNV,"ZMIZ2:NM_174929:exon11:c.T1733C:p.F578S,ZMIZ2:NM_001300959:exon12:c.T1637C:p.F546S,ZMIZ2:NM_031449:exon13:c.T1811C:p.F604S",D,D,D,D,D,T
chr7,44802970,44802970,G,A,R007_S,ZMIZ2,Silent,NM_174929,exon11,c.G1740A,p.R580R,SNP,SNVindel,exonic,ZMIZ2,NA,synonymous SNV,"ZMIZ2:NM_174929:exon11:c.G1740A:p.R580R,ZMIZ2:NM_001300959:exon12:c.G1644A:p.R548R,ZMIZ2:NM_031449:exon13:c.G1818A:p.R606R",NA,NA,NA,NA,NA,NA
chr7,44882914,44882914,C,T,R007_S,H2AFV,Missense_Mutation,NM_012412,exon2,c.G43A,p.A15T,SNP,SNVindel,exonic,H2AFV,NA,nonsynonymous SNV,"H2AFV:NM_012412:exon2:c.G43A:p.A15T,H2AFV:NM_138635:exon2:c.G43A:p.A15T,H2AFV:NM_201516:exon2:c.G43A:p.A15T,H2AFV:NM_201517:exon2:c.G43A:p.A15T",T,.,D,D,N,T
chr7,44924015,44924015,C,T,R007_S,PURB,Silent,NM_033224,exon1,c.G933A,p.E311E,SNP,SNVindel,exonic,PURB,NA,synonymous SNV,PURB:NM_033224:exon1:c.G933A:p.E311E,NA,NA,NA,NA,NA,NA
chr7,45122156,45122156,G,A,R007_S,NACAD,Missense_Mutation,NM_001146334,exon2,c.C3623T,p.P1208L,SNP,SNVindel,exonic,NACAD,NA,nonsynonymous SNV,NACAD:NM_001146334:exon2:c.C3623T:p.P1208L,T,.,N,T,D,T
chr7,45123932,45123932,G,A,R007_S,NACAD,Missense_Mutation,NM_001146334,exon2,c.C1847T,p.A616V,SNP,SNVindel,exonic,NACAD,NA,nonsynonymous SNV,NACAD:NM_001146334:exon2:c.C1847T:p.A616V,D,N,N,T,N,T
chr7,45124068,45124068,G,A,R007_S,NACAD,Silent,NM_001146334,exon2,c.C1711T,p.L571L,SNP,SNVindel,exonic,NACAD,NA,synonymous SNV,NACAD:NM_001146334:exon2:c.C1711T:p.L571L,NA,NA,NA,NA,NA,NA
chr7,47332426,47332426,C,T,R007_S,TNS3,Missense_Mutation,NM_022748,exon26,c.G3850A,p.D1284N,SNP,SNVindel,exonic,TNS3,NA,nonsynonymous SNV,TNS3:NM_022748:exon26:c.G3850A:p.D1284N,D,U,D,D,D,D
chr7,47408909,47408909,G,A,R007_S,TNS3,Missense_Mutation,NM_022748,exon17,c.C1334T,p.T445I,SNP,SNVindel,exonic,TNS3,NA,nonsynonymous SNV,TNS3:NM_022748:exon17:c.C1334T:p.T445I,D,N,D,T,D,T
chr7,47860730,47860730,C,T,R007_S,PKD1L1,Silent,NM_138295,exon46,c.G6909A,p.G2303G,SNP,SNVindel,exonic,PKD1L1,NA,synonymous SNV,PKD1L1:NM_138295:exon46:c.G6909A:p.G2303G,NA,NA,NA,NA,NA,NA
chr7,47913526,47913526,G,A,R007_S,PKD1L1,Silent,NM_138295,exon24,c.C3867T,p.Y1289Y,SNP,SNVindel,exonic,PKD1L1,NA,synonymous SNV,PKD1L1:NM_138295:exon24:c.C3867T:p.Y1289Y,NA,NA,NA,NA,NA,NA
chr7,47976461,47976461,C,T,R007_S,PKD1L1,Missense_Mutation,NM_138295,exon4,c.G380A,p.C127Y,SNP,SNVindel,exonic,PKD1L1,NA,nonsynonymous SNV,PKD1L1:NM_138295:exon4:c.G380A:p.C127Y,T,.,N,T,N,T
chr7,48035726,48035726,C,T,R007_S,SUN3,Missense_Mutation,NM_001030019,exon7,c.G595A,p.A199T,SNP,SNVindel,exonic,SUN3,NA,nonsynonymous SNV,"SUN3:NM_001030019:exon7:c.G595A:p.A199T,SUN3:NM_001284350:exon8:c.G559A:p.A187T,SUN3:NM_152782:exon8:c.G595A:p.A199T",T,N,N,T,N,T
chr7,48081113,48081113,C,T,R007_S,C7orf57,Missense_Mutation,NM_001100159,exon3,c.C238T,p.P80S,SNP,SNVindel,exonic,C7orf57,NA,nonsynonymous SNV,C7orf57:NM_001100159:exon3:c.C238T:p.P80S,D,D,D,T,D,T
chr7,48313047,48313047,G,A,R007_S,ABCA13,Missense_Mutation,NM_152701,exon17,c.G3784A,p.A1262T,SNP,SNVindel,exonic,ABCA13,NA,nonsynonymous SNV,ABCA13:NM_152701:exon17:c.G3784A:p.A1262T,T,N,N,D,N,T
chr7,48314254,48314254,C,T,R007_S,ABCA13,Missense_Mutation,NM_152701,exon17,c.C4991T,p.T1664I,SNP,SNVindel,exonic,ABCA13,NA,nonsynonymous SNV,ABCA13:NM_152701:exon17:c.C4991T:p.T1664I,D,N,N,D,N,T
chr7,48335349,48335349,G,A,R007_S,ABCA13,Missense_Mutation,NM_152701,exon21,c.G9008A,p.S3003N,SNP,SNVindel,exonic,ABCA13,NA,nonsynonymous SNV,ABCA13:NM_152701:exon21:c.G9008A:p.S3003N,D,N,N,D,N,T
chr7,50534963,50534963,G,A,R007_S,DDC,Silent,NM_001242888,exon11,c.C957T,p.R319R,SNP,SNVindel,exonic,DDC,NA,synonymous SNV,"DDC:NM_001242888:exon11:c.C957T:p.R319R,DDC:NM_001242889:exon11:c.C912T:p.R304R,DDC:NM_001242886:exon12:c.C1077T:p.R359R,DDC:NM_001242887:exon12:c.C1047T:p.R349R,DDC:NM_000790:exon13:c.C1191T:p.R397R,DDC:NM_001082971:exon13:c.C1191T:p.R397R",NA,NA,NA,NA,NA,NA
chr7,53103607,53103607,G,A,R007_S,POM121L12,Silent,NM_182595,exon1,c.G243A,p.R81R,SNP,SNVindel,exonic,POM121L12,NA,synonymous SNV,POM121L12:NM_182595:exon1:c.G243A:p.R81R,NA,NA,NA,NA,NA,NA
chr7,64004122,64004122,C,T,R007_S,ZNF680,Nonsense_Mutation,NM_001130022,exon3,c.G216A,p.W72X,SNP,SNVindel,exonic,ZNF680,NA,stopgain,"ZNF680:NM_001130022:exon3:c.G216A:p.W72X,ZNF680:NM_178558:exon3:c.G216A:p.W72X",.,.,D,.,.,.
chr7,64864736,64864736,G,A,R007_S,ZNF92,Missense_Mutation,NM_001287534,exon2,c.G1481A,p.G494D,SNP,SNVindel,exonic,ZNF92,NA,nonsynonymous SNV,"ZNF92:NM_001287534:exon2:c.G1481A:p.G494D,ZNF92:NM_001287532:exon3:c.G1613A:p.G538D,ZNF92:NM_007139:exon3:c.G1502A:p.G501D,ZNF92:NM_152626:exon4:c.G1709A:p.G570D,ZNF92:NM_001287533:exon5:c.G1481A:p.G494D",T,.,N,T,D,T
chr7,65546914,65546914,G,A,R007_S,ASL,Missense_Mutation,NM_001024943,exon2,c.G137A,p.S46N,SNP,SNVindel,exonic,ASL,NA,nonsynonymous SNV,"ASL:NM_001024943:exon2:c.G137A:p.S46N,ASL:NM_001024944:exon2:c.G137A:p.S46N,ASL:NM_001024946:exon2:c.G137A:p.S46N,ASL:NM_000048:exon3:c.G137A:p.S46N",D,D,D,D,N,D
chr7,66413544,66413544,C,T,R007_S,TMEM248,Silent,NM_017994,exon4,c.C459T,p.H153H,SNP,SNVindel,exonic,TMEM248,NA,synonymous SNV,TMEM248:NM_017994:exon4:c.C459T:p.H153H,NA,NA,NA,NA,NA,NA
chr7,66453413,66453413,G,A,R007_S,SBDS,Missense_Mutation,NM_016038,exon5,c.C698T,p.S233F,SNP,SNVindel,exonic,SBDS,NA,nonsynonymous SNV,SBDS:NM_016038:exon5:c.C698T:p.S233F,T,D,D,D,N,D
chr7,66548447,66548447,G,A,R007_S,TYW1,Nonsense_Mutation,NM_018264,exon11,c.G1305A,p.W435X,SNP,SNVindel,exonic,TYW1,NA,stopgain,TYW1:NM_018264:exon11:c.G1305A:p.W435X,.,U,A,.,.,.
chr7,70252339,70252339,G,A,R007_S,AUTS2,Missense_Mutation,NM_001127231,exon17,c.G2381A,p.S794N,SNP,SNVindel,exonic,AUTS2,NA,nonsynonymous SNV,"AUTS2:NM_001127231:exon17:c.G2381A:p.S794N,AUTS2:NM_015570:exon18:c.G2453A:p.S818N",T,D,D,T,N,T
chr7,70254735,70254735,G,A,R007_S,AUTS2,Missense_Mutation,NM_001127231,exon18,c.G2461A,p.E821K,SNP,SNVindel,exonic,AUTS2,NA,nonsynonymous SNV,"AUTS2:NM_001127231:exon18:c.G2461A:p.E821K,AUTS2:NM_015570:exon19:c.G2533A:p.E845K",D,D,D,T,D,T
chr7,72242513,72242513,C,T,R007_S,TYW1B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TYW1B,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr7,72738548,72738548,G,A,R007_S,TRIM50,Missense_Mutation,NM_001281450,exon2,c.C238T,p.L80F,SNP,SNVindel,exonic,TRIM50,NA,nonsynonymous SNV,"TRIM50:NM_001281450:exon2:c.C238T:p.L80F,TRIM50:NM_001281451:exon2:c.C238T:p.L80F,TRIM50:NM_178125:exon2:c.C238T:p.L80F",T,N,N,T,N,T
chr7,72848656,72848656,C,T,R007_S,FZD9,Missense_Mutation,NM_003508,exon1,c.C319T,p.P107S,SNP,SNVindel,exonic,FZD9,NA,nonsynonymous SNV,FZD9:NM_003508:exon1:c.C319T:p.P107S,T,U,D,T,D,T
chr7,72849218,72849218,G,A,R007_S,FZD9,Missense_Mutation,NM_003508,exon1,c.G881A,p.C294Y,SNP,SNVindel,exonic,FZD9,NA,nonsynonymous SNV,FZD9:NM_003508:exon1:c.G881A:p.C294Y,D,U,D,D,D,D
chr7,72849921,72849921,G,A,R007_S,FZD9,Silent,NM_003508,exon1,c.G1584A,p.V528V,SNP,SNVindel,exonic,FZD9,NA,synonymous SNV,FZD9:NM_003508:exon1:c.G1584A:p.V528V,NA,NA,NA,NA,NA,NA
chr7,72891240,72891240,G,A,R007_S,BAZ1B,Nonsense_Mutation,NM_001370402,exon7,c.C2551T,p.Q851X,SNP,SNVindel,exonic,BAZ1B,NA,stopgain,"BAZ1B:NM_001370402:exon7:c.C2551T:p.Q851X,BAZ1B:NM_032408:exon7:c.C2551T:p.Q851X",.,D,A,.,.,.
chr7,73010178,73010178,G,A,R007_S,MLXIPL,Missense_Mutation,NM_032951,exon14,c.C2180T,p.A727V,SNP,SNVindel,exonic,MLXIPL,NA,nonsynonymous SNV,"MLXIPL:NM_032951:exon14:c.C2180T:p.A727V,MLXIPL:NM_032952:exon14:c.C2123T:p.A708V,MLXIPL:NM_032953:exon14:c.C2174T:p.A725V,MLXIPL:NM_032954:exon14:c.C2117T:p.A706V",D,N,N,D,N,D
chr7,73098003,73098003,G,A,R007_S,BUD23,Silent,NM_001202560,exon1,c.G48A,p.L16L,SNP,SNVindel,exonic,BUD23,NA,synonymous SNV,"BUD23:NM_001202560:exon1:c.G48A:p.L16L,BUD23:NM_017528:exon1:c.G48A:p.L16L",.,.,D,.,.,T
chr7,73101165,73101165,G,A,R007_S,BUD23,Missense_Mutation,NM_001202560,exon4,c.G200A,p.S67N,SNP,SNVindel,exonic,BUD23,NA,nonsynonymous SNV,"BUD23:NM_001202560:exon4:c.G200A:p.S67N,BUD23:NM_017528:exon4:c.G200A:p.S67N",D,D,D,T,D,T
chr7,73108324,73108324,G,A,R007_S,BUD23,Silent,NM_001202560,exon10,c.G645A,p.G215G,SNP,SNVindel,exonic,BUD23,NA,synonymous SNV,"BUD23:NM_001202560:exon10:c.G645A:p.G215G,BUD23:NM_017528:exon10:c.G645A:p.G215G",NA,NA,NA,NA,NA,NA
chr7,73474724,73474724,G,A,R007_S,ELN,Missense_Mutation,NM_001278913,exon21,c.G1397A,p.G466D,SNP,SNVindel,exonic,ELN,NA,nonsynonymous SNV,"ELN:NM_001278913:exon21:c.G1397A:p.G466D,ELN:NM_001278918:exon21:c.G1373A:p.G458D,ELN:NM_001278916:exon22:c.G1496A:p.G499D,ELN:NM_001081752:exon23:c.G1553A:p.G518D,ELN:NM_001278914:exon23:c.G1568A:p.G523D,ELN:NM_001081753:exon24:c.G1598A:p.G533D,ELN:NM_001081755:exon24:c.G1583A:p.G528D,ELN:NM_001278917:exon24:c.G1610A:p.G537D,ELN:NM_000501:exon25:c.G1640A:p.G547D,ELN:NM_001081754:exon25:c.G1655A:p.G552D,ELN:NM_001278912:exon25:c.G1640A:p.G547D,ELN:NM_001278915:exon25:c.G1658A:p.G553D,ELN:NM_001278939:exon26:c.G1727A:p.G576D",D,.,N,T,N,T
chr7,73791096,73791096,G,A,R007_S,CLIP2,Missense_Mutation,NM_032421,exon9,c.G2260A,p.V754M,SNP,SNVindel,exonic,CLIP2,NA,nonsynonymous SNV,"CLIP2:NM_032421:exon9:c.G2260A:p.V754M,CLIP2:NM_003388:exon10:c.G2365A:p.V789M",D,D,D,T,N,T
chr7,75517396,75517396,C,T,R007_S,RHBDD2,Missense_Mutation,NM_001346188,exon3,c.C416T,p.A139V,SNP,SNVindel,exonic,RHBDD2,NA,nonsynonymous SNV,"RHBDD2:NM_001346188:exon3:c.C416T:p.A139V,RHBDD2:NM_001346189:exon3:c.C380T:p.A127V,RHBDD2:NM_001040456:exon4:c.C824T:p.A275V,RHBDD2:NM_001346187:exon4:c.C401T:p.A134V,RHBDD2:NM_001040457:exon5:c.C401T:p.A134V,RHBDD2:NM_001346186:exon6:c.C401T:p.A134V",T,N,N,T,N,T
chr7,75915010,75915010,C,T,R007_S,SRRM3,Silent,NM_001291831,exon17,c.C1890T,p.T630T,SNP,SNVindel,exonic,SRRM3,NA,synonymous SNV,SRRM3:NM_001291831:exon17:c.C1890T:p.T630T,NA,NA,NA,NA,NA,NA
chr7,75915069,75915069,G,A,R007_S,SRRM3,Missense_Mutation,NM_001291831,exon17,c.G1949A,p.S650N,SNP,SNVindel,exonic,SRRM3,NA,nonsynonymous SNV,SRRM3:NM_001291831:exon17:c.G1949A:p.S650N,.,N,D,.,.,T
chr7,76027027,76027027,C,T,R007_S,SSC4D,Missense_Mutation,NM_080744,exon6,c.G676A,p.V226I,SNP,SNVindel,exonic,SSC4D,NA,nonsynonymous SNV,SSC4D:NM_080744:exon6:c.G676A:p.V226I,D,.,D,T,N,T
chr7,76132833,76132833,C,T,R007_S,DTX2,Nonsense_Mutation,NM_001102596,exon6,c.C1339T,p.Q447X,SNP,SNVindel,exonic,DTX2,NA,stopgain,"DTX2:NM_001102596:exon6:c.C1339T:p.Q447X,DTX2:NM_001102595:exon8:c.C1480T:p.Q494X,DTX2:NM_001102594:exon9:c.C1480T:p.Q494X,DTX2:NM_020892:exon10:c.C1480T:p.Q494X",.,N,A,.,.,.
chr7,76240814,76240814,C,T,R007_S,POMZP3,Missense_Mutation,NM_012230,exon6,c.G532A,p.V178M,SNP,SNVindel,exonic,POMZP3,NA,nonsynonymous SNV,POMZP3:NM_012230:exon6:c.G532A:p.V178M,T,U,N,T,N,T
chr7,76889463,76889463,C,T,R007_S,CCDC146,Missense_Mutation,NM_020879,exon8,c.C896T,p.A299V,SNP,SNVindel,exonic,CCDC146,NA,nonsynonymous SNV,CCDC146:NM_020879:exon8:c.C896T:p.A299V,T,D,D,T,N,T
chr7,77407951,77407951,G,A,R007_S,RSBN1L,Silent,NM_198467,exon8,c.G2007A,p.R669R,SNP,SNVindel,exonic,RSBN1L,NA,synonymous SNV,RSBN1L:NM_198467:exon8:c.G2007A:p.R669R,D,.,D,.,N,T
chr7,77824252,77824252,G,A,R007_S,MAGI2,Silent,NM_001301128,exon12,c.C2208T,p.D736D,SNP,SNVindel,exonic,MAGI2,NA,synonymous SNV,"MAGI2:NM_001301128:exon12:c.C2208T:p.D736D,MAGI2:NM_012301:exon12:c.C2208T:p.D736D",NA,NA,NA,NA,NA,NA
chr7,78150930,78150930,C,T,R007_S,MAGI2,Missense_Mutation,NM_001301128,exon4,c.G571A,p.E191K,SNP,SNVindel,exonic,MAGI2,NA,nonsynonymous SNV,"MAGI2:NM_001301128:exon4:c.G571A:p.E191K,MAGI2:NM_012301:exon4:c.G571A:p.E191K",D,U,D,T,N,T
chr7,80303397,80303397,T,A,R007_S,CD36,Silent,NM_001289908,exon10,c.T1236A,p.V412V,SNP,SNVindel,exonic,CD36,NA,synonymous SNV,"CD36:NM_001289908:exon10:c.T1236A:p.V412V,CD36:NM_001371080:exon11:c.T888A:p.V296V,CD36:NM_001127444:exon12:c.T1353A:p.V451V,CD36:NM_001289909:exon12:c.T1173A:p.V391V,CD36:NM_001289911:exon12:c.T1125A:p.V375V,CD36:NM_001127443:exon13:c.T1353A:p.V451V,CD36:NM_000072:exon14:c.T1353A:p.V451V,CD36:NM_001001547:exon14:c.T1353A:p.V451V,CD36:NM_001001548:exon14:c.T1353A:p.V451V,CD36:NM_001371074:exon14:c.T1353A:p.V451V,CD36:NM_001371075:exon14:c.T1353A:p.V451V,CD36:NM_001371077:exon14:c.T1353A:p.V451V,CD36:NM_001371078:exon14:c.T1353A:p.V451V,CD36:NM_001371079:exon14:c.T1251A:p.V417V,CD36:NM_001371081:exon14:c.T888A:p.V296V",NA,NA,NA,NA,NA,NA
chr7,81346664,81346664,G,A,R007_S,HGF,Missense_Mutation,NM_000601,exon11,c.C1289T,p.P430L,SNP,SNVindel,exonic,HGF,NA,nonsynonymous SNV,"HGF:NM_000601:exon11:c.C1289T:p.P430L,HGF:NM_001010932:exon11:c.C1274T:p.P425L",T,D,D,T,D,T
chr7,82579218,82579218,C,T,R007_S,PCLO,Silent,NM_014510,exon6,c.G10686A,p.G3562G,SNP,SNVindel,exonic,PCLO,NA,synonymous SNV,"PCLO:NM_014510:exon6:c.G10686A:p.G3562G,PCLO:NM_033026:exon6:c.G10686A:p.G3562G",NA,NA,NA,NA,NA,NA
chr7,82579676,82579676,G,A,R007_S,PCLO,Missense_Mutation,NM_014510,exon6,c.C10228T,p.P3410S,SNP,SNVindel,exonic,PCLO,NA,nonsynonymous SNV,"PCLO:NM_014510:exon6:c.C10228T:p.P3410S,PCLO:NM_033026:exon6:c.C10228T:p.P3410S",T,.,N,T,N,T
chr7,82581401,82581401,C,T,R007_S,PCLO,Silent,NM_014510,exon5,c.G8868A,p.Q2956Q,SNP,SNVindel,exonic,PCLO,NA,synonymous SNV,"PCLO:NM_014510:exon5:c.G8868A:p.Q2956Q,PCLO:NM_033026:exon5:c.G8868A:p.Q2956Q",NA,NA,NA,NA,NA,NA
chr7,83739871,83739871,G,A,R007_S,SEMA3A,Missense_Mutation,NM_006080,exon4,c.C368T,p.A123V,SNP,SNVindel,exonic,SEMA3A,NA,nonsynonymous SNV,SEMA3A:NM_006080:exon4:c.C368T:p.A123V,T,N,N,T,N,T
chr7,86539168,86539168,G,A,R007_S,KIAA1324L,Silent,NM_001291991,exon15,c.C1599T,p.A533A,SNP,SNVindel,exonic,KIAA1324L,NA,synonymous SNV,"KIAA1324L:NM_001291991:exon15:c.C1599T:p.A533A,KIAA1324L:NM_152748:exon15:c.C1818T:p.A606A,KIAA1324L:NM_001142749:exon16:c.C2319T:p.A773A,KIAA1324L:NM_001291990:exon16:c.C1977T:p.A659A",NA,NA,NA,NA,NA,NA
chr7,86541455,86541455,C,T,R007_S,KIAA1324L,Missense_Mutation,NM_001291991,exon14,c.G1382A,p.G461D,SNP,SNVindel,exonic,KIAA1324L,NA,nonsynonymous SNV,"KIAA1324L:NM_001291991:exon14:c.G1382A:p.G461D,KIAA1324L:NM_152748:exon14:c.G1601A:p.G534D,KIAA1324L:NM_001142749:exon15:c.G2102A:p.G701D,KIAA1324L:NM_001291990:exon15:c.G1760A:p.G587D",D,D,D,T,D,T
chr7,86802891,86802891,G,A,R007_S,DMTF1,Missense_Mutation,NM_001142326,exon5,c.G104A,p.G35D,SNP,SNVindel,exonic,DMTF1,NA,nonsynonymous SNV,"DMTF1:NM_001142326:exon5:c.G104A:p.G35D,DMTF1:NM_001142327:exon6:c.G368A:p.G123D,DMTF1:NM_021145:exon8:c.G368A:p.G123D",T,N,D,T,N,T
chr7,86823092,86823092,C,T,R007_S,DMTF1,Missense_Mutation,NM_001142326,exon15,c.C1438T,p.P480S,SNP,SNVindel,exonic,DMTF1,NA,nonsynonymous SNV,"DMTF1:NM_001142326:exon15:c.C1438T:p.P480S,DMTF1:NM_001142327:exon16:c.C1702T:p.P568S,DMTF1:NM_021145:exon18:c.C1702T:p.P568S",D,D,D,T,N,T
chr7,87072725,87072725,C,T,R007_S,ABCB4,Silent,NM_000443,exon12,c.G1266A,p.G422G,SNP,SNVindel,exonic,ABCB4,NA,synonymous SNV,"ABCB4:NM_000443:exon12:c.G1266A:p.G422G,ABCB4:NM_018849:exon12:c.G1266A:p.G422G,ABCB4:NM_018850:exon12:c.G1266A:p.G422G",NA,NA,NA,NA,NA,NA
chr7,87092163,87092163,G,A,R007_S,ABCB4,Missense_Mutation,NM_000443,exon4,c.C197T,p.A66V,SNP,SNVindel,exonic,ABCB4,NA,nonsynonymous SNV,"ABCB4:NM_000443:exon4:c.C197T:p.A66V,ABCB4:NM_018849:exon4:c.C197T:p.A66V,ABCB4:NM_018850:exon4:c.C197T:p.A66V",T,N,D,D,N,T
chr7,87144629,87144629,G,A,R007_S,ABCB1,Missense_Mutation,NM_001348946,exon25,c.C3200T,p.A1067V,SNP,SNVindel,exonic,ABCB1,NA,nonsynonymous SNV,"ABCB1:NM_001348946:exon25:c.C3200T:p.A1067V,ABCB1:NM_000927:exon26:c.C3200T:p.A1067V,ABCB1:NM_001348944:exon27:c.C3200T:p.A1067V,ABCB1:NM_001348945:exon29:c.C3410T:p.A1137V",D,D,D,D,D,D
chr7,87825931,87825931,C,T,R007_S,ADAM22,Nonsense_Mutation,NM_001324421,exon29,c.C2614T,p.Q872X,SNP,SNVindel,exonic,ADAM22,NA,stopgain,ADAM22:NM_001324421:exon29:c.C2614T:p.Q872X,NA,NA,NA,NA,NA,NA
chr7,87910354,87910354,G,A,R007_S,STEAP4,Missense_Mutation,NM_001205316,exon3,c.C497T,p.A166V,SNP,SNVindel,exonic,STEAP4,NA,nonsynonymous SNV,"STEAP4:NM_001205316:exon3:c.C497T:p.A166V,STEAP4:NM_024636:exon4:c.C1025T:p.A342V,STEAP4:NM_001205315:exon5:c.C1025T:p.A342V",T,D,D,D,N,D
chr7,87912364,87912364,G,A,R007_S,STEAP4,Silent,NM_024636,exon3,c.C576T,p.Y192Y,SNP,SNVindel,exonic,STEAP4,NA,synonymous SNV,"STEAP4:NM_024636:exon3:c.C576T:p.Y192Y,STEAP4:NM_001205315:exon4:c.C576T:p.Y192Y",NA,NA,NA,NA,NA,NA
chr7,90042596,90042596,G,A,R007_S,CLDN12,Silent,NM_001185073,exon3,c.G606A,p.L202L,SNP,SNVindel,exonic,CLDN12,NA,synonymous SNV,"CLDN12:NM_001185073:exon3:c.G606A:p.L202L,CLDN12:NM_012129:exon3:c.G606A:p.L202L,CLDN12:NM_001185072:exon4:c.G606A:p.L202L",NA,NA,NA,NA,NA,NA
chr7,91792690,91792690,G,A,R007_S,LRRD1,Silent,NM_001161528,exon1,c.C1827T,p.F609F,SNP,SNVindel,exonic,LRRD1,NA,synonymous SNV,LRRD1:NM_001161528:exon1:c.C1827T:p.F609F,NA,NA,NA,NA,NA,NA
chr7,91863881,91863881,G,A,R007_S,KRIT1,Missense_Mutation,NM_001350672,exon8,c.C871T,p.P291S,SNP,SNVindel,exonic,KRIT1,NA,nonsynonymous SNV,"KRIT1:NM_001350672:exon8:c.C871T:p.P291S,KRIT1:NM_001350691:exon8:c.C871T:p.P291S,KRIT1:NM_001350695:exon8:c.C871T:p.P291S,KRIT1:NM_001350671:exon9:c.C157T:p.P53S,KRIT1:NM_001350673:exon9:c.C871T:p.P291S,KRIT1:NM_001350677:exon9:c.C871T:p.P291S,KRIT1:NM_001350678:exon9:c.C871T:p.P291S,KRIT1:NM_001350679:exon9:c.C871T:p.P291S,KRIT1:NM_001350680:exon9:c.C871T:p.P291S,KRIT1:NM_001350683:exon9:c.C871T:p.P291S,KRIT1:NM_001350686:exon9:c.C871T:p.P291S,KRIT1:NM_001350687:exon9:c.C871T:p.P291S,KRIT1:NM_001350688:exon9:c.C871T:p.P291S,KRIT1:NM_001350690:exon9:c.C871T:p.P291S,KRIT1:NM_001350692:exon9:c.C871T:p.P291S,KRIT1:NM_001350694:exon9:c.C871T:p.P291S,KRIT1:NM_001350696:exon9:c.C871T:p.P291S,KRIT1:NM_001350675:exon10:c.C871T:p.P291S,KRIT1:NM_001350676:exon10:c.C871T:p.P291S,KRIT1:NM_001350684:exon10:c.C871T:p.P291S,KRIT1:NM_001350685:exon10:c.C871T:p.P291S,KRIT1:NM_001350689:exon10:c.C871T:p.P291S,KRIT1:NM_001350693:exon10:c.C871T:p.P291S,KRIT1:NM_004912:exon10:c.C871T:p.P291S,KRIT1:NM_194454:exon10:c.C871T:p.P291S,KRIT1:NM_194455:exon10:c.C871T:p.P291S,KRIT1:NM_001350674:exon11:c.C871T:p.P291S,KRIT1:NM_001350681:exon11:c.C871T:p.P291S,KRIT1:NM_001350682:exon11:c.C871T:p.P291S,KRIT1:NM_001350697:exon11:c.C871T:p.P291S,KRIT1:NM_194456:exon11:c.C871T:p.P291S",D,D,D,T,D,D
chr7,92000917,92000917,C,T,R007_S,ANKIB1,Missense_Mutation,NM_019004,exon11,c.C1613T,p.A538V,SNP,SNVindel,exonic,ANKIB1,NA,nonsynonymous SNV,ANKIB1:NM_019004:exon11:c.C1613T:p.A538V,T,D,D,D,N,T
chr7,92247395,92247395,G,A,R007_S,CDK6,Silent,NM_001145306,exon7,c.C825T,p.D275D,SNP,SNVindel,exonic,CDK6,NA,synonymous SNV,"CDK6:NM_001145306:exon7:c.C825T:p.D275D,CDK6:NM_001259:exon7:c.C825T:p.D275D",NA,NA,NA,NA,NA,NA
chr7,92735139,92735139,G,A,R007_S,SAMD9,Missense_Mutation,NM_001193307,exon2,c.C272T,p.P91L,SNP,SNVindel,exonic,SAMD9,NA,nonsynonymous SNV,"SAMD9:NM_001193307:exon2:c.C272T:p.P91L,SAMD9:NM_017654:exon3:c.C272T:p.P91L",T,N,N,T,N,T
chr7,92761488,92761488,C,T,R007_S,SAMD9L,Missense_Mutation,NM_001303500,exon4,c.G3797A,p.R1266K,SNP,SNVindel,exonic,SAMD9L,NA,nonsynonymous SNV,"SAMD9L:NM_001303500:exon4:c.G3797A:p.R1266K,SAMD9L:NM_001350083:exon4:c.G3797A:p.R1266K,SAMD9L:NM_001303496:exon5:c.G3797A:p.R1266K,SAMD9L:NM_001303498:exon5:c.G3797A:p.R1266K,SAMD9L:NM_001350085:exon5:c.G3797A:p.R1266K,SAMD9L:NM_152703:exon5:c.G3797A:p.R1266K,SAMD9L:NM_001303497:exon6:c.G3797A:p.R1266K,SAMD9L:NM_001350082:exon6:c.G3797A:p.R1266K,SAMD9L:NM_001350084:exon6:c.G3797A:p.R1266K",T,N,N,T,N,T
chr7,92848694,92848694,G,A,R007_S,HEPACAM2,Silent,NM_001288810,exon1,c.C114T,p.Y38Y,SNP,SNVindel,exonic,HEPACAM2,NA,synonymous SNV,"HEPACAM2:NM_001288810:exon1:c.C114T:p.Y38Y,HEPACAM2:NM_198151:exon1:c.C114T:p.Y38Y,HEPACAM2:NM_001039372:exon2:c.C150T:p.Y50Y,HEPACAM2:NM_001288804:exon3:c.C219T:p.Y73Y",NA,NA,NA,NA,NA,NA
chr7,93518360,93518360,G,A,R007_S,TFPI2,Silent,NM_001271003,exon3,c.C414T,p.C138C,SNP,SNVindel,exonic,TFPI2,NA,synonymous SNV,"TFPI2:NM_001271003:exon3:c.C414T:p.C138C,TFPI2:NM_001271004:exon3:c.C447T:p.C149C,TFPI2:NM_006528:exon3:c.C447T:p.C149C",NA,NA,NA,NA,NA,NA
chr7,93551522,93551522,G,A,R007_S,GNG11,Missense_Mutation,NM_004126,exon1,c.G73A,p.E25K,SNP,SNVindel,exonic,GNG11,NA,nonsynonymous SNV,GNG11:NM_004126:exon1:c.G73A:p.E25K,D,D,D,T,D,T
chr7,94059672,94059672,C,T,R007_S,COL1A2,Silent,NM_000089,exon52,c.C4068T,p.F1356F,SNP,SNVindel,exonic,COL1A2,NA,synonymous SNV,COL1A2:NM_000089:exon52:c.C4068T:p.F1356F,NA,NA,NA,NA,NA,NA
chr7,94913456,94913456,G,A,R007_S,PPP1R9A,Silent,NM_001166161,exon15,c.G3303A,p.R1101R,SNP,SNVindel,exonic,PPP1R9A,NA,synonymous SNV,"PPP1R9A:NM_001166161:exon15:c.G3303A:p.R1101R,PPP1R9A:NM_001166162:exon15:c.G3357A:p.R1119R,PPP1R9A:NM_001166160:exon17:c.G3423A:p.R1141R",NA,NA,NA,NA,NA,NA
chr7,95025619,95025619,G,A,R007_S,PON3,Missense_Mutation,NM_000940,exon1,c.C44T,p.S15F,SNP,SNVindel,exonic,PON3,NA,nonsynonymous SNV,PON3:NM_000940:exon1:c.C44T:p.S15F,D,N,N,T,N,T
chr7,96636967,96636967,G,A,R007_S,DLX6,Missense_Mutation,NM_005222,exon2,c.G454A,p.V152M,SNP,SNVindel,exonic,DLX6,NA,nonsynonymous SNV,DLX6:NM_005222:exon2:c.G454A:p.V152M,D,.,D,D,N,D
chr7,97814425,97814425,G,A,R007_S,LMTK2,Missense_Mutation,NM_014916,exon8,c.G854A,p.G285E,SNP,SNVindel,exonic,LMTK2,NA,nonsynonymous SNV,LMTK2:NM_014916:exon8:c.G854A:p.G285E,D,D,D,D,D,D
chr7,98608724,98608724,G,A,R007_S,TRRAP,Missense_Mutation,NM_003496,exon69,c.G10859A,p.S3620N,SNP,SNVindel,exonic,TRRAP,NA,nonsynonymous SNV,"TRRAP:NM_003496:exon69:c.G10859A:p.S3620N,TRRAP:NM_001244580:exon70:c.G10946A:p.S3649N",T,D,D,T,N,T
chr7,98985750,98985750,G,A,R007_S,ARPC1B,Nonsense_Mutation,NM_005720,exon4,c.G258A,p.W86X,SNP,SNVindel,exonic,ARPC1B,NA,stopgain,ARPC1B:NM_005720:exon4:c.G258A:p.W86X,.,D,D,.,.,.
chr7,99022779,99022779,G,A,R007_S,ATP5MF-PTCD1,Missense_Mutation,NM_015545,exon6,c.C1376T,p.T459I,SNP,SNVindel,exonic,ATP5MF-PTCD1;PTCD1,NA,nonsynonymous SNV,"PTCD1:NM_015545:exon6:c.C1376T:p.T459I,ATP5MF-PTCD1:NM_001198879:exon7:c.C1523T:p.T508I",T,N,N,T,D,T
chr7,99103971,99103971,C,T,R007_S,ZKSCAN5,Silent,NM_001318082,exon2,c.C304T,p.L102L,SNP,SNVindel,exonic,ZKSCAN5,NA,synonymous SNV,"ZKSCAN5:NM_001318082:exon2:c.C304T:p.L102L,ZKSCAN5:NM_001318083:exon2:c.C304T:p.L102L,ZKSCAN5:NM_014569:exon2:c.C304T:p.L102L,ZKSCAN5:NM_145102:exon2:c.C304T:p.L102L",NA,NA,NA,NA,NA,NA
chr7,99146023,99146023,G,A,R007_S,FAM200A,Missense_Mutation,NM_145111,exon2,c.C8T,p.P3L,SNP,SNVindel,exonic,FAM200A,NA,nonsynonymous SNV,FAM200A:NM_145111:exon2:c.C8T:p.P3L,D,N,N,T,N,T
chr7,99227337,99227337,G,A,R007_S,ZSCAN25,Silent,NM_001350979,exon6,c.G1329A,p.R443R,SNP,SNVindel,exonic,ZSCAN25,NA,synonymous SNV,"ZSCAN25:NM_001350979:exon6:c.G1329A:p.R443R,ZSCAN25:NM_001350981:exon8:c.G837A:p.R279R,ZSCAN25:NM_001350983:exon8:c.G837A:p.R279R,ZSCAN25:NM_145115:exon8:c.G1329A:p.R443R,ZSCAN25:NM_001350980:exon9:c.G1329A:p.R443R,ZSCAN25:NM_001350982:exon9:c.G837A:p.R279R",NA,NA,NA,NA,NA,NA
chr7,99447216,99447216,G,A,R007_S,CYP3A43,Missense_Mutation,NM_022820,exon7,c.G569A,p.G190E,SNP,SNVindel,exonic,CYP3A43,NA,nonsynonymous SNV,"CYP3A43:NM_022820:exon7:c.G569A:p.G190E,CYP3A43:NM_057095:exon7:c.G569A:p.G190E,CYP3A43:NM_057096:exon7:c.G569A:p.G190E",D,D,A,T,D,D
chr7,99661672,99661672,C,T,R007_S,ZSCAN21,Missense_Mutation,NM_145914,exon4,c.C854T,p.A285V,SNP,SNVindel,exonic,ZSCAN21,NA,nonsynonymous SNV,"ZSCAN21:NM_145914:exon4:c.C854T:p.A285V,ZSCAN21:NM_001362779:exon5:c.C854T:p.A285V,ZSCAN21:NM_001362780:exon5:c.C854T:p.A285V",D,D,D,T,D,T
chr7,99690918,99690918,G,A,R007_S,MCM7,Missense_Mutation,NM_001278595,exon13,c.C1427T,p.A476V,SNP,SNVindel,exonic,MCM7,NA,nonsynonymous SNV,"MCM7:NM_001278595:exon13:c.C1427T:p.A476V,MCM7:NM_182776:exon13:c.C1427T:p.A476V,MCM7:NM_005916:exon14:c.C1955T:p.A652V",T,N,D,T,N,T
chr7,99693076,99693076,G,A,R007_S,MCM7,Missense_Mutation,NM_001278595,exon11,c.C1085T,p.T362I,SNP,SNVindel,exonic,MCM7,NA,nonsynonymous SNV,"MCM7:NM_001278595:exon11:c.C1085T:p.T362I,MCM7:NM_182776:exon11:c.C1085T:p.T362I,MCM7:NM_005916:exon12:c.C1613T:p.T538I",D,D,D,T,D,T
chr7,99700503,99700503,G,A,R007_S,AP4M1,Missense_Mutation,NM_001363671,exon4,c.G292A,p.G98S,SNP,SNVindel,exonic,AP4M1,NA,nonsynonymous SNV,"AP4M1:NM_001363671:exon4:c.G292A:p.G98S,AP4M1:NM_004722:exon4:c.G271A:p.G91S",T,D,D,T,N,T
chr7,99709752,99709752,G,A,R007_S,TAF6,Silent,NM_001190415,exon7,c.C810T,p.G270G,SNP,SNVindel,exonic,TAF6,NA,synonymous SNV,"TAF6:NM_001190415:exon7:c.C810T:p.G270G,TAF6:NM_001365000:exon7:c.C669T:p.G223G,TAF6:NM_001365001:exon7:c.C669T:p.G223G,TAF6:NM_001365002:exon7:c.C669T:p.G223G,TAF6:NM_005641:exon7:c.C699T:p.G233G,TAF6:NM_139315:exon7:c.C699T:p.G233G,TAF6:NM_001364998:exon8:c.C699T:p.G233G,TAF6:NM_001364999:exon8:c.C699T:p.G233G,TAF6:NM_001365003:exon8:c.C669T:p.G223G,TAF6:NM_001365004:exon8:c.C837T:p.G279G",NA,NA,NA,NA,NA,NA
chr7,99725042,99725042,G,A,R007_S,MBLAC1,Silent,NM_203397,exon2,c.G24A,p.G8G,SNP,SNVindel,exonic,MBLAC1,NA,synonymous SNV,MBLAC1:NM_203397:exon2:c.G24A:p.G8G,NA,NA,NA,NA,NA,NA
chr7,99725572,99725572,G,A,R007_S,MBLAC1,Missense_Mutation,NM_203397,exon2,c.G554A,p.G185D,SNP,SNVindel,exonic,MBLAC1,NA,nonsynonymous SNV,MBLAC1:NM_203397:exon2:c.G554A:p.G185D,D,U,D,T,D,D
chr7,99956653,99956653,G,A,R007_S,PILRB,Silent,NM_178238,exon2,c.G405A,p.G135G,SNP,SNVindel,exonic,PILRB,NA,synonymous SNV,PILRB:NM_178238:exon2:c.G405A:p.G135G,D,.,N,.,N,T
chr7,100027885,100027885,G,A,R007_S,MEPCE,Missense_Mutation,NM_019606,exon1,c.G244A,p.A82T,SNP,SNVindel,exonic,MEPCE,NA,nonsynonymous SNV,MEPCE:NM_019606:exon1:c.G244A:p.A82T,T,N,N,.,N,T
chr7,100352913,100352913,G,A,R007_S,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,100358133,100358133,C,T,R007_S,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,100391490,100391490,G,A,R007_S,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,100468076,100468076,G,A,R007_S,TRIP6,Missense_Mutation,NM_003302,exon5,c.G820A,p.E274K,SNP,SNVindel,exonic,TRIP6,NA,nonsynonymous SNV,TRIP6:NM_003302:exon5:c.G820A:p.E274K,D,D,D,T,D,T
chr7,100482015,100482015,G,A,R007_S,SRRT,Missense_Mutation,NM_001128852,exon7,c.G784A,p.E262K,SNP,SNVindel,exonic,SRRT,NA,nonsynonymous SNV,"SRRT:NM_001128852:exon7:c.G784A:p.E262K,SRRT:NM_001128853:exon7:c.G784A:p.E262K,SRRT:NM_001128854:exon7:c.G784A:p.E262K,SRRT:NM_015908:exon7:c.G784A:p.E262K",.,D,D,.,.,T
chr7,100676042,100676042,G,A,R007_S,MUC17,Missense_Mutation,NM_001040105,exon3,c.G1345A,p.E449K,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.G1345A:p.E449K,D,.,N,T,N,T
chr7,100677213,100677213,C,T,R007_S,MUC17,Missense_Mutation,NM_001040105,exon3,c.C2516T,p.T839I,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.C2516T:p.T839I,T,.,N,T,N,T
chr7,100680645,100680645,G,A,R007_S,MUC17,Missense_Mutation,NM_001040105,exon3,c.G5948A,p.G1983E,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.G5948A:p.G1983E,T,.,N,T,N,T
chr7,100685119,100685119,G,A,R007_S,MUC17,Silent,NM_001040105,exon3,c.G10422A,p.E3474E,SNP,SNVindel,exonic,MUC17,NA,synonymous SNV,MUC17:NM_001040105:exon3:c.G10422A:p.E3474E,NA,NA,NA,NA,NA,NA
chr7,100695207,100695207,G,A,R007_S,MUC17,Missense_Mutation,NM_001040105,exon9,c.G13067A,p.G4356D,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon9:c.G13067A:p.G4356D,D,.,N,T,D,T
chr7,100731847,100731847,C,T,R007_S,TRIM56,Silent,NM_030961,exon3,c.C1254T,p.T418T,SNP,SNVindel,exonic,TRIM56,NA,synonymous SNV,TRIM56:NM_030961:exon3:c.C1254T:p.T418T,NA,NA,NA,NA,NA,NA
chr7,100773764,100773764,G,A,R007_S,SERPINE1,Missense_Mutation,NM_000602,exon3,c.G334A,p.D112N,SNP,SNVindel,exonic,SERPINE1,NA,nonsynonymous SNV,SERPINE1:NM_000602:exon3:c.G334A:p.D112N,T,N,D,T,N,T
chr7,100855624,100855624,G,A,R007_S,PLOD3,Missense_Mutation,NM_001084,exon10,c.C1037T,p.S346F,SNP,SNVindel,exonic,PLOD3,NA,nonsynonymous SNV,PLOD3:NM_001084:exon10:c.C1037T:p.S346F,T,N,N,D,N,T
chr7,100859201,100859201,G,A,R007_S,PLOD3,Silent,NM_001084,exon5,c.C603T,p.D201D,SNP,SNVindel,exonic,PLOD3,NA,synonymous SNV,PLOD3:NM_001084:exon5:c.C603T:p.D201D,NA,NA,NA,NA,NA,NA
chr7,101256853,101256853,C,T,R007_S,MYL10,Missense_Mutation,NM_138403,exon8,c.G583A,p.V195I,SNP,SNVindel,exonic,MYL10,NA,nonsynonymous SNV,MYL10:NM_138403:exon8:c.G583A:p.V195I,T,N,D,T,N,T
chr7,101957663,101957663,G,A,R007_S,SH2B2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SH2B2,NA,unknown,UNKNOWN,.,N,.,.,.,T
chr7,102110061,102110061,G,A,R007_S,LRWD1,Silent,NM_001317721,exon10,c.G813A,p.G271G,SNP,SNVindel,exonic,LRWD1,NA,synonymous SNV,"LRWD1:NM_001317721:exon10:c.G813A:p.G271G,LRWD1:NM_152892:exon10:c.G1269A:p.G423G",NA,NA,NA,NA,NA,NA
chr7,102584819,102584819,G,A,R007_S,LRRC17,Nonsense_Mutation,NM_001031692,exon4,c.G1091A,p.W364X,SNP,SNVindel,exonic,LRRC17,NA,stopgain,LRRC17:NM_001031692:exon4:c.G1091A:p.W364X,.,D,D,.,.,.
chr7,102993356,102993356,G,A,R007_S,SLC26A5,Missense_Mutation,NM_206885,exon10,c.C989T,p.T330I,SNP,SNVindel,exonic,SLC26A5,NA,nonsynonymous SNV,"SLC26A5:NM_206885:exon10:c.C989T:p.T330I,SLC26A5:NM_206884:exon15:c.C1532T:p.T511I",D,.,N,D,N,T
chr7,103159858,103159858,G,A,R007_S,RELN,Nonsense_Mutation,NM_005045,exon49,c.C7774T,p.Q2592X,SNP,SNVindel,exonic,RELN,NA,stopgain,"RELN:NM_005045:exon49:c.C7774T:p.Q2592X,RELN:NM_173054:exon49:c.C7774T:p.Q2592X",.,D,A,.,.,.
chr7,105122866,105122866,G,A,R007_S,PUS7,Silent,NM_001318163,exon8,c.C960T,p.A320A,SNP,SNVindel,exonic,PUS7,NA,synonymous SNV,"PUS7:NM_001318163:exon8:c.C960T:p.A320A,PUS7:NM_001318164:exon8:c.C942T:p.A314A,PUS7:NM_019042:exon8:c.C942T:p.A314A",NA,NA,NA,NA,NA,NA
chr7,105187710,105187710,C,T,R007_S,RINT1,Missense_Mutation,NM_001346599,exon6,c.C535T,p.P179S,SNP,SNVindel,exonic,RINT1,NA,nonsynonymous SNV,"RINT1:NM_001346599:exon6:c.C535T:p.P179S,RINT1:NM_021930:exon6:c.C769T:p.P257S",T,N,D,T,N,T
chr7,105645087,105645087,G,A,R007_S,CDHR3,Missense_Mutation,NM_001301161,exon7,c.G742A,p.E248K,SNP,SNVindel,exonic,CDHR3,NA,nonsynonymous SNV,"CDHR3:NM_001301161:exon7:c.G742A:p.E248K,CDHR3:NM_152750:exon8:c.G1006A:p.E336K",T,N,D,T,N,T
chr7,106781349,106781349,C,T,R007_S,PRKAR2B,Missense_Mutation,NM_002736,exon5,c.C538T,p.H180Y,SNP,SNVindel,exonic,PRKAR2B,NA,nonsynonymous SNV,PRKAR2B:NM_002736:exon5:c.C538T:p.H180Y,T,D,D,D,D,D
chr7,106888849,106888849,G,A,R007_S,COG5,Silent,NM_181733,exon16,c.C1875T,p.D625D,SNP,SNVindel,exonic,COG5,NA,synonymous SNV,"COG5:NM_181733:exon16:c.C1875T:p.D625D,COG5:NM_001161520:exon17:c.C1938T:p.D646D,COG5:NM_006348:exon17:c.C1938T:p.D646D",NA,NA,NA,NA,NA,NA
chr7,107002785,107002785,G,A,R007_S,COG5,Missense_Mutation,NM_001161520,exon9,c.C1009T,p.L337F,SNP,SNVindel,exonic,COG5,NA,nonsynonymous SNV,"COG5:NM_001161520:exon9:c.C1009T:p.L337F,COG5:NM_006348:exon9:c.C1009T:p.L337F,COG5:NM_181733:exon9:c.C1009T:p.L337F",T,D,D,T,N,T
chr7,107342473,107342473,G,A,R007_S,SLC26A4,Missense_Mutation,NM_000441,exon17,c.G2005A,p.D669N,SNP,SNVindel,exonic,SLC26A4,NA,nonsynonymous SNV,SLC26A4:NM_000441:exon17:c.G2005A:p.D669N,D,D,D,D,D,D
chr7,107696219,107696219,C,T,R007_S,LAMB4,Missense_Mutation,NM_001318046,exon25,c.G3613A,p.D1205N,SNP,SNVindel,exonic,LAMB4,NA,nonsynonymous SNV,"LAMB4:NM_001318046:exon25:c.G3613A:p.D1205N,LAMB4:NM_007356:exon25:c.G3613A:p.D1205N",T,D,D,T,N,T
chr7,107720049,107720049,G,A,R007_S,LAMB4,Silent,NM_001318046,exon15,c.C1884T,p.T628T,SNP,SNVindel,exonic,LAMB4,NA,synonymous SNV,"LAMB4:NM_001318046:exon15:c.C1884T:p.T628T,LAMB4:NM_001318047:exon15:c.C1884T:p.T628T,LAMB4:NM_001318048:exon15:c.C1884T:p.T628T,LAMB4:NM_007356:exon15:c.C1884T:p.T628T",NA,NA,NA,NA,NA,NA
chr7,108213584,108213584,G,A,R007_S,DNAJB9,Silent,NM_012328,exon3,c.G459A,p.R153R,SNP,SNVindel,exonic,DNAJB9,NA,synonymous SNV,DNAJB9:NM_012328:exon3:c.G459A:p.R153R,NA,NA,NA,NA,NA,NA
chr7,113559033,113559033,G,A,R007_S,PPP1R3A,Missense_Mutation,NM_002711,exon1,c.C19T,p.P7S,SNP,SNVindel,exonic,PPP1R3A,NA,nonsynonymous SNV,PPP1R3A:NM_002711:exon1:c.C19T:p.P7S,D,N,D,T,N,T
chr7,117359640,117359640,G,A,R007_S,CTTNBP2,Missense_Mutation,NM_001363349,exon21,c.C4508T,p.S1503F,SNP,SNVindel,exonic,CTTNBP2,NA,nonsynonymous SNV,"CTTNBP2:NM_001363349:exon21:c.C4508T:p.S1503F,CTTNBP2:NM_001363350:exon21:c.C2465T:p.S822F,CTTNBP2:NM_001363351:exon21:c.C2465T:p.S822F,CTTNBP2:NM_033427:exon21:c.C4562T:p.S1521F",D,N,D,T,N,T
chr7,117386127,117386127,G,A,R007_S,CTTNBP2,Silent,NM_001363349,exon13,c.C3321T,p.F1107F,SNP,SNVindel,exonic,CTTNBP2,NA,synonymous SNV,"CTTNBP2:NM_001363349:exon13:c.C3321T:p.F1107F,CTTNBP2:NM_001363350:exon13:c.C1278T:p.F426F,CTTNBP2:NM_001363351:exon13:c.C1278T:p.F426F,CTTNBP2:NM_033427:exon13:c.C3375T:p.F1125F",NA,NA,NA,NA,NA,NA
chr7,117396611,117396611,G,A,R007_S,CTTNBP2,Silent,NM_001363349,exon12,c.C3292T,p.L1098L,SNP,SNVindel,exonic,CTTNBP2,NA,synonymous SNV,"CTTNBP2:NM_001363349:exon12:c.C3292T:p.L1098L,CTTNBP2:NM_001363350:exon12:c.C1249T:p.L417L,CTTNBP2:NM_001363351:exon12:c.C1249T:p.L417L,CTTNBP2:NM_033427:exon12:c.C3346T:p.L1116L",NA,NA,NA,NA,NA,NA
chr7,119915220,119915220,C,T,R007_S,KCND2,Silent,NM_012281,exon1,c.C534T,p.P178P,SNP,SNVindel,exonic,KCND2,NA,synonymous SNV,KCND2:NM_012281:exon1:c.C534T:p.P178P,NA,NA,NA,NA,NA,NA
chr7,120382602,120382602,C,T,R007_S,KCND2,Silent,NM_012281,exon4,c.C1413T,p.G471G,SNP,SNVindel,exonic,KCND2,NA,synonymous SNV,KCND2:NM_012281:exon4:c.C1413T:p.G471G,NA,NA,NA,NA,NA,NA
chr7,121653273,121653273,G,A,R007_S,PTPRZ1,Silent,NM_001369395,exon12,c.G4173A,p.K1391K,SNP,SNVindel,exonic,PTPRZ1,NA,synonymous SNV,"PTPRZ1:NM_001369395:exon12:c.G4173A:p.K1391K,PTPRZ1:NM_002851:exon12:c.G4173A:p.K1391K,PTPRZ1:NM_001369396:exon13:c.G4131A:p.K1377K",NA,NA,NA,NA,NA,NA
chr7,121678943,121678943,G,A,R007_S,PTPRZ1,Silent,NM_001206839,exon18,c.G2901A,p.R967R,SNP,SNVindel,exonic,PTPRZ1,NA,synonymous SNV,"PTPRZ1:NM_001206839:exon18:c.G2901A:p.R967R,PTPRZ1:NM_001369395:exon18:c.G5481A:p.R1827R,PTPRZ1:NM_001206838:exon19:c.G2922A:p.R974R,PTPRZ1:NM_002851:exon19:c.G5502A:p.R1834R,PTPRZ1:NM_001369396:exon20:c.G5460A:p.R1820R",NA,NA,NA,NA,NA,NA
chr7,121942107,121942107,G,A,R007_S,FEZF1,Missense_Mutation,NM_001024613,exon4,c.C1372T,p.P458S,SNP,SNVindel,exonic,FEZF1,NA,nonsynonymous SNV,"FEZF1:NM_001024613:exon4:c.C1372T:p.P458S,FEZF1:NM_001160264:exon5:c.C1222T:p.P408S",D,N,N,T,N,T
chr7,121942175,121942175,C,T,R007_S,FEZF1,Missense_Mutation,NM_001024613,exon4,c.G1304A,p.G435D,SNP,SNVindel,exonic,FEZF1,NA,nonsynonymous SNV,"FEZF1:NM_001024613:exon4:c.G1304A:p.G435D,FEZF1:NM_001160264:exon5:c.G1154A:p.G385D",D,N,D,T,N,T
chr7,122342373,122342373,G,A,R007_S,RNF148,Silent,NM_198085,exon1,c.C432T,p.H144H,SNP,SNVindel,exonic,RNF148,NA,synonymous SNV,RNF148:NM_198085:exon1:c.C432T:p.H144H,NA,NA,NA,NA,NA,NA
chr7,123119947,123119947,G,A,R007_S,IQUB,Silent,NM_001282855,exon8,c.C1312T,p.L438L,SNP,SNVindel,exonic,IQUB,NA,synonymous SNV,"IQUB:NM_001282855:exon8:c.C1312T:p.L438L,IQUB:NM_001321293:exon8:c.C1312T:p.L438L,IQUB:NM_178827:exon8:c.C1312T:p.L438L",NA,NA,NA,NA,NA,NA
chr7,123269216,123269216,G,A,R007_S,ASB15,Missense_Mutation,NM_080928,exon8,c.G1168A,p.A390T,SNP,SNVindel,exonic,ASB15,NA,nonsynonymous SNV,"ASB15:NM_080928:exon8:c.G1168A:p.A390T,ASB15:NM_001290258:exon10:c.G1168A:p.A390T",T,N,D,T,N,T
chr7,123302640,123302640,C,T,R007_S,LMOD2,Missense_Mutation,NM_207163,exon2,c.C1000T,p.H334Y,SNP,SNVindel,exonic,LMOD2,NA,nonsynonymous SNV,LMOD2:NM_207163:exon2:c.C1000T:p.H334Y,D,.,D,D,D,D
chr7,123672437,123672437,G,A,R007_S,TMEM229A,Silent,NM_001136002,exon1,c.C621T,p.V207V,SNP,SNVindel,exonic,TMEM229A,NA,synonymous SNV,TMEM229A:NM_001136002:exon1:c.C621T:p.V207V,NA,NA,NA,NA,NA,NA
chr7,124481171,124481171,G,A,R007_S,POT1,Missense_Mutation,NM_001042594,exon13,c.C832T,p.P278S,SNP,SNVindel,exonic,POT1,NA,nonsynonymous SNV,"POT1:NM_001042594:exon13:c.C832T:p.P278S,POT1:NM_015450:exon14:c.C1225T:p.P409S",T,N,D,T,N,T
chr7,126173827,126173827,G,A,R007_S,GRM8,Missense_Mutation,NM_001371087,exon8,c.C994T,p.H332Y,SNP,SNVindel,exonic,GRM8,NA,nonsynonymous SNV,"GRM8:NM_001371087:exon8:c.C994T:p.H332Y,GRM8:NM_000845:exon9:c.C1609T:p.H537Y,GRM8:NM_001127323:exon9:c.C1609T:p.H537Y,GRM8:NM_001371084:exon9:c.C1609T:p.H537Y,GRM8:NM_001371085:exon9:c.C1609T:p.H537Y,GRM8:NM_001371086:exon9:c.C1609T:p.H537Y,GRM8:NM_001371083:exon10:c.C1609T:p.H537Y",T,D,D,D,N,D
chr7,127014465,127014465,C,T,R007_S,ZNF800,Missense_Mutation,NM_176814,exon5,c.G925A,p.V309I,SNP,SNVindel,exonic,ZNF800,NA,nonsynonymous SNV,ZNF800:NM_176814:exon5:c.G925A:p.V309I,T,D,.,T,N,T
chr7,127222492,127222492,G,A,R007_S,GCC1,Missense_Mutation,NM_024523,exon2,c.C1904T,p.S635F,SNP,SNVindel,exonic,GCC1,NA,nonsynonymous SNV,GCC1:NM_024523:exon2:c.C1904T:p.S635F,D,N,N,T,N,T
chr7,127224526,127224526,G,A,R007_S,GCC1,Silent,NM_024523,exon1,c.C711T,p.A237A,SNP,SNVindel,exonic,GCC1,NA,synonymous SNV,GCC1:NM_024523:exon1:c.C711T:p.A237A,NA,NA,NA,NA,NA,NA
chr7,127724832,127724832,C,T,R007_S,SND1,Missense_Mutation,NM_014390,exon19,c.C2167T,p.P723S,SNP,SNVindel,exonic,SND1,NA,nonsynonymous SNV,SND1:NM_014390:exon19:c.C2167T:p.P723S,D,D,D,T,D,T
chr7,127954843,127954843,G,A,R007_S,RBM28,Silent,NM_001166135,exon13,c.C1596T,p.L532L,SNP,SNVindel,exonic,RBM28,NA,synonymous SNV,"RBM28:NM_001166135:exon13:c.C1596T:p.L532L,RBM28:NM_018077:exon17:c.C2019T:p.L673L",NA,NA,NA,NA,NA,NA
chr7,127954984,127954984,G,A,R007_S,RBM28,Silent,NM_001166135,exon13,c.C1455T,p.H485H,SNP,SNVindel,exonic,RBM28,NA,synonymous SNV,"RBM28:NM_001166135:exon13:c.C1455T:p.H485H,RBM28:NM_018077:exon17:c.C1878T:p.H626H",NA,NA,NA,NA,NA,NA
chr7,127973389,127973389,C,T,R007_S,RBM28,Missense_Mutation,NM_001166135,exon5,c.G551A,p.R184K,SNP,SNVindel,exonic,RBM28,NA,nonsynonymous SNV,"RBM28:NM_001166135:exon5:c.G551A:p.R184K,RBM28:NM_018077:exon9:c.G974A:p.R325K",T,N,D,T,N,T
chr7,127973400,127973400,G,A,R007_S,RBM28,Silent,NM_001166135,exon5,c.C540T,p.N180N,SNP,SNVindel,exonic,RBM28,NA,synonymous SNV,"RBM28:NM_001166135:exon5:c.C540T:p.N180N,RBM28:NM_018077:exon9:c.C963T:p.N321N",NA,NA,NA,NA,NA,NA
chr7,127991457,127991457,A,G,R007_S,PRRT4,Missense_Mutation,NM_001174164,exon6,c.T2153C,p.V718A,SNP,SNVindel,exonic,PRRT4,NA,nonsynonymous SNV,PRRT4:NM_001174164:exon6:c.T2153C:p.V718A,D,.,D,.,N,T
chr7,128312506,128312506,G,A,R007_S,FAM71F2,Missense_Mutation,NM_001012454,exon1,c.G55A,p.E19K,SNP,SNVindel,exonic,FAM71F2,NA,nonsynonymous SNV,"FAM71F2:NM_001012454:exon1:c.G55A:p.E19K,FAM71F2:NM_001128926:exon1:c.G55A:p.E19K",T,N,N,T,N,T
chr7,128481542,128481542,G,A,R007_S,FLNC,Missense_Mutation,NM_001127487,exon13,c.G2042A,p.G681D,SNP,SNVindel,exonic,FLNC,NA,nonsynonymous SNV,"FLNC:NM_001127487:exon13:c.G2042A:p.G681D,FLNC:NM_001458:exon13:c.G2042A:p.G681D",D,D,D,T,D,D
chr7,128497282,128497282,G,A,R007_S,FLNC,Missense_Mutation,NM_001127487,exon45,c.G7573A,p.G2525S,SNP,SNVindel,exonic,FLNC,NA,nonsynonymous SNV,"FLNC:NM_001127487:exon45:c.G7573A:p.G2525S,FLNC:NM_001458:exon46:c.G7672A:p.G2558S",D,D,D,D,D,D
chr7,128532590,128532590,G,A,R007_S,KCP,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,KCP,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,128585910,128585910,G,A,R007_S,IRF5,Silent,NM_001098627,exon3,c.G207A,p.K69K,SNP,SNVindel,exonic,IRF5,NA,synonymous SNV,"IRF5:NM_001098627:exon3:c.G207A:p.K69K,IRF5:NM_001098629:exon3:c.G207A:p.K69K,IRF5:NM_001098630:exon3:c.G207A:p.K69K,IRF5:NM_001242452:exon3:c.G207A:p.K69K,IRF5:NM_001347928:exon3:c.G207A:p.K69K,IRF5:NM_001364314:exon3:c.G207A:p.K69K,IRF5:NM_032643:exon3:c.G207A:p.K69K",NA,NA,NA,NA,NA,NA
chr7,128850878,128850878,G,A,R007_S,SMO,Silent,NM_005631,exon10,c.G1725A,p.K575K,SNP,SNVindel,exonic,SMO,NA,synonymous SNV,SMO:NM_005631:exon10:c.G1725A:p.K575K,NA,NA,NA,NA,NA,NA
chr7,130023297,130023297,G,A,R007_S,CPA1,Nonsense_Mutation,NM_001868,exon5,c.G549A,p.W183X,SNP,SNVindel,exonic,CPA1,NA,stopgain,CPA1:NM_001868:exon5:c.G549A:p.W183X,.,D,A,.,.,.
chr7,130353892,130353892,G,A,R007_S,TSGA13,Missense_Mutation,NM_052933,exon8,c.C790T,p.P264S,SNP,SNVindel,exonic,TSGA13,NA,nonsynonymous SNV,"TSGA13:NM_052933:exon8:c.C790T:p.P264S,TSGA13:NM_001304968:exon9:c.C790T:p.P264S",T,N,N,.,N,T
chr7,131817825,131817825,C,T,R007_S,PLXNA4,Missense_Mutation,NM_020911,exon31,c.G5572A,p.G1858S,SNP,SNVindel,exonic,PLXNA4,NA,nonsynonymous SNV,PLXNA4:NM_020911:exon31:c.G5572A:p.G1858S,T,N,D,T,N,T
chr7,131859556,131859556,G,A,R007_S,PLXNA4,Missense_Mutation,NM_020911,exon21,c.C3998T,p.P1333L,SNP,SNVindel,exonic,PLXNA4,NA,nonsynonymous SNV,PLXNA4:NM_020911:exon21:c.C3998T:p.P1333L,D,D,D,T,D,T
chr7,131870177,131870177,C,T,R007_S,PLXNA4,Silent,NM_020911,exon16,c.G3039A,p.E1013E,SNP,SNVindel,exonic,PLXNA4,NA,synonymous SNV,PLXNA4:NM_020911:exon16:c.G3039A:p.E1013E,NA,NA,NA,NA,NA,NA
chr7,132070033,132070033,G,A,R007_S,PLXNA4,Missense_Mutation,NM_001105543,exon4,c.C1393T,p.P465S,SNP,SNVindel,exonic,PLXNA4,NA,nonsynonymous SNV,PLXNA4:NM_001105543:exon4:c.C1393T:p.P465S,T,.,N,T,N,T
chr7,132192828,132192828,C,A,R007_S,PLXNA4,Nonsense_Mutation,NM_001105543,exon2,c.G625T,p.E209X,SNP,SNVindel,exonic,PLXNA4,NA,stopgain,"PLXNA4:NM_001105543:exon2:c.G625T:p.E209X,PLXNA4:NM_020911:exon2:c.G625T:p.E209X,PLXNA4:NM_181775:exon3:c.G625T:p.E209X",.,U,A,.,.,.
chr7,133502282,133502282,G,A,R007_S,EXOC4,Silent,NM_021807,exon11,c.G1719A,p.Q573Q,SNP,SNVindel,exonic,EXOC4,NA,synonymous SNV,EXOC4:NM_021807:exon11:c.G1719A:p.Q573Q,NA,NA,NA,NA,NA,NA
chr7,133821790,133821790,G,A,R007_S,LRGUK,Silent,NM_001365700,exon2,c.G312A,p.G104G,SNP,SNVindel,exonic,LRGUK,NA,synonymous SNV,"LRGUK:NM_001365700:exon2:c.G312A:p.G104G,LRGUK:NM_001365701:exon2:c.G312A:p.G104G,LRGUK:NM_144648:exon2:c.G312A:p.G104G",NA,NA,NA,NA,NA,NA
chr7,133821800,133821800,G,A,R007_S,LRGUK,Missense_Mutation,NM_001365700,exon2,c.G322A,p.E108K,SNP,SNVindel,exonic,LRGUK,NA,nonsynonymous SNV,"LRGUK:NM_001365700:exon2:c.G322A:p.E108K,LRGUK:NM_001365701:exon2:c.G322A:p.E108K,LRGUK:NM_144648:exon2:c.G322A:p.E108K",D,N,D,T,D,T
chr7,134617964,134617964,G,A,R007_S,CALD1,Silent,NM_033139,exon3,c.G426A,p.E142E,SNP,SNVindel,exonic,CALD1,NA,synonymous SNV,"CALD1:NM_033139:exon3:c.G426A:p.E142E,CALD1:NM_033140:exon3:c.G426A:p.E142E,CALD1:NM_004342:exon5:c.G444A:p.E148E,CALD1:NM_033138:exon5:c.G444A:p.E148E,CALD1:NM_033157:exon5:c.G444A:p.E148E",NA,NA,NA,NA,NA,NA
chr7,134719629,134719629,C,T,R007_S,AGBL3,Silent,NM_178563,exon7,c.C1287T,p.L429L,SNP,SNVindel,exonic,AGBL3,NA,synonymous SNV,AGBL3:NM_178563:exon7:c.C1287T:p.L429L,NA,NA,NA,NA,NA,NA
chr7,135123056,135123056,C,T,R007_S,CNOT4,Silent,NM_001008225,exon2,c.G24A,p.K8K,SNP,SNVindel,exonic,CNOT4,NA,synonymous SNV,"CNOT4:NM_001008225:exon2:c.G24A:p.K8K,CNOT4:NM_001190847:exon2:c.G24A:p.K8K,CNOT4:NM_001190848:exon2:c.G24A:p.K8K,CNOT4:NM_001190849:exon2:c.G24A:p.K8K,CNOT4:NM_001190850:exon2:c.G24A:p.K8K,CNOT4:NM_013316:exon2:c.G24A:p.K8K",NA,NA,NA,NA,NA,NA
chr7,135301995,135301995,G,A,R007_S,NUP205,Silent,NM_001329434,exon26,c.G2616A,p.K872K,SNP,SNVindel,exonic,NUP205,NA,synonymous SNV,"NUP205:NM_001329434:exon26:c.G2616A:p.K872K,NUP205:NM_015135:exon26:c.G3690A:p.K1230K",NA,NA,NA,NA,NA,NA
chr7,135376057,135376057,G,A,R007_S,SLC13A4,Silent,NM_001318192,exon13,c.C1338T,p.H446H,SNP,SNVindel,exonic,SLC13A4,NA,synonymous SNV,"SLC13A4:NM_001318192:exon13:c.C1338T:p.H446H,SLC13A4:NM_012450:exon13:c.C1335T:p.H445H",NA,NA,NA,NA,NA,NA
chr7,137792161,137792161,G,A,R007_S,AKR1D1,Nonsense_Mutation,NM_001190906,exon6,c.G567A,p.W189X,SNP,SNVindel,exonic,AKR1D1,NA,stopgain,"AKR1D1:NM_001190906:exon6:c.G567A:p.W189X,AKR1D1:NM_001190907:exon7:c.G690A:p.W230X,AKR1D1:NM_005989:exon7:c.G690A:p.W230X",.,D,A,.,.,.
chr7,138265378,138265378,G,A,R007_S,TRIM24,Missense_Mutation,NM_003852,exon16,c.G2555A,p.S852N,SNP,SNVindel,exonic,TRIM24,NA,nonsynonymous SNV,"TRIM24:NM_003852:exon16:c.G2555A:p.S852N,TRIM24:NM_015905:exon16:c.G2657A:p.S886N",T,N,N,T,N,T
chr7,138344706,138344706,C,T,R007_S,SVOPL,Missense_Mutation,NM_001331192,exon3,c.G100A,p.A34T,SNP,SNVindel,exonic,SVOPL,NA,nonsynonymous SNV,"SVOPL:NM_001331192:exon3:c.G100A:p.A34T,SVOPL:NM_001139456:exon5:c.G373A:p.A125T",T,.,D,T,N,T
chr7,138444578,138444578,C,T,R007_S,ATP6V0A4,Silent,NM_130840,exon7,c.G558A,p.E186E,SNP,SNVindel,exonic,ATP6V0A4,NA,synonymous SNV,"ATP6V0A4:NM_130840:exon7:c.G558A:p.E186E,ATP6V0A4:NM_130841:exon7:c.G558A:p.E186E,ATP6V0A4:NM_020632:exon8:c.G558A:p.E186E",NA,NA,NA,NA,NA,NA
chr7,138524891,138524891,C,T,R007_S,KIAA1549,Missense_Mutation,NM_001164665,exon19,c.G5585A,p.G1862E,SNP,SNVindel,exonic,KIAA1549,NA,nonsynonymous SNV,"KIAA1549:NM_001164665:exon19:c.G5585A:p.G1862E,KIAA1549:NM_020910:exon19:c.G5585A:p.G1862E",D,N,N,T,D,T
chr7,138579239,138579239,G,A,R007_S,KIAA1549,Missense_Mutation,NM_001164665,exon10,c.C3881T,p.S1294F,SNP,SNVindel,exonic,KIAA1549,NA,nonsynonymous SNV,"KIAA1549:NM_001164665:exon10:c.C3881T:p.S1294F,KIAA1549:NM_020910:exon10:c.C3881T:p.S1294F",D,N,D,T,D,T
chr7,138589816,138589816,G,A,R007_S,KIAA1549,Missense_Mutation,NM_001164665,exon7,c.C3472T,p.P1158S,SNP,SNVindel,exonic,KIAA1549,NA,nonsynonymous SNV,"KIAA1549:NM_001164665:exon7:c.C3472T:p.P1158S,KIAA1549:NM_020910:exon7:c.C3472T:p.P1158S",D,D,D,T,D,T
chr7,138603236,138603236,G,A,R007_S,KIAA1549,Missense_Mutation,NM_001164665,exon2,c.C1136T,p.S379F,SNP,SNVindel,exonic,KIAA1549,NA,nonsynonymous SNV,"KIAA1549:NM_001164665:exon2:c.C1136T:p.S379F,KIAA1549:NM_020910:exon2:c.C1136T:p.S379F",T,N,N,T,N,T
chr7,139164387,139164387,G,A,R007_S,KLRG2,Silent,NM_198508,exon3,c.C991T,p.L331L,SNP,SNVindel,exonic,KLRG2,NA,synonymous SNV,KLRG2:NM_198508:exon3:c.C991T:p.L331L,NA,NA,NA,NA,NA,NA
chr7,139416794,139416794,C,T,R007_S,HIPK2,Missense_Mutation,NM_001113239,exon2,c.G40A,p.V14I,SNP,SNVindel,exonic,HIPK2,NA,nonsynonymous SNV,"HIPK2:NM_001113239:exon2:c.G40A:p.V14I,HIPK2:NM_022740:exon2:c.G40A:p.V14I",D,.,D,T,N,T
chr7,139529235,139529235,G,A,R007_S,TBXAS1,Missense_Mutation,NM_001061,exon1,c.G46A,p.V16M,SNP,SNVindel,exonic,TBXAS1,NA,nonsynonymous SNV,"TBXAS1:NM_001061:exon1:c.G46A:p.V16M,TBXAS1:NM_001166253:exon1:c.G46A:p.V16M,TBXAS1:NM_001366538:exon1:c.G46A:p.V16M,TBXAS1:NM_030984:exon1:c.G46A:p.V16M,TBXAS1:NM_001130966:exon5:c.G46A:p.V16M",D,N,D,T,N,T
chr7,140285395,140285395,G,A,R007_S,DENND2A,Silent,NM_001318052,exon4,c.C1239T,p.L413L,SNP,SNVindel,exonic,DENND2A,NA,synonymous SNV,"DENND2A:NM_001318052:exon4:c.C1239T:p.L413L,DENND2A:NM_001318053:exon5:c.C1239T:p.L413L,DENND2A:NM_001362678:exon5:c.C1239T:p.L413L,DENND2A:NM_015689:exon5:c.C1239T:p.L413L",NA,NA,NA,NA,NA,NA
chr7,141385401,141385401,C,T,R007_S,DENND11,Missense_Mutation,NM_001080392,exon3,c.G404A,p.C135Y,SNP,SNVindel,exonic,DENND11,NA,nonsynonymous SNV,DENND11:NM_001080392:exon3:c.G404A:p.C135Y,D,D,D,.,D,T
chr7,141424889,141424889,G,A,R007_S,WEE2,Missense_Mutation,NM_001105558,exon9,c.G1285A,p.G429R,SNP,SNVindel,exonic,WEE2,NA,nonsynonymous SNV,WEE2:NM_001105558:exon9:c.G1285A:p.G429R,D,U,D,T,D,T
chr7,141429353,141429353,G,A,R007_S,WEE2,Missense_Mutation,NM_001105558,exon11,c.G1558A,p.A520T,SNP,SNVindel,exonic,WEE2,NA,nonsynonymous SNV,WEE2:NM_001105558:exon11:c.G1558A:p.A520T,T,U,N,T,N,T
chr7,141786070,141786070,G,A,R007_S,MGAM,Missense_Mutation,NM_001365693,exon56,c.G6689A,p.G2230D,SNP,SNVindel,exonic,MGAM,NA,nonsynonymous SNV,MGAM:NM_001365693:exon56:c.G6689A:p.G2230D,.,.,D,.,.,T
chr7,141797409,141797409,C,T,R007_S,MGAM,Missense_Mutation,NM_004668,exon43,c.C5021T,p.T1674I,SNP,SNVindel,exonic,MGAM,NA,nonsynonymous SNV,"MGAM:NM_004668:exon43:c.C5021T:p.T1674I,MGAM:NM_001365693:exon66:c.C7709T:p.T2570I",T,.,N,D,N,T
chr7,141955037,141955037,G,A,R007_S,PRSS58,Missense_Mutation,NM_001001317,exon4,c.C274T,p.H92Y,SNP,SNVindel,exonic,PRSS58,NA,nonsynonymous SNV,PRSS58:NM_001001317:exon4:c.C274T:p.H92Y,T,.,N,T,N,T
chr7,142724144,142724144,G,A,R007_S,OR9A2,Missense_Mutation,NM_001001658,exon1,c.C76T,p.L26F,SNP,SNVindel,exonic,OR9A2,NA,nonsynonymous SNV,OR9A2:NM_001001658:exon1:c.C76T:p.L26F,D,U,N,T,D,T
chr7,142880916,142880916,C,T,R007_S,TAS2R39,Silent,NM_176881,exon1,c.C405T,p.Y135Y,SNP,SNVindel,exonic,TAS2R39,NA,synonymous SNV,TAS2R39:NM_176881:exon1:c.C405T:p.Y135Y,NA,NA,NA,NA,NA,NA
chr7,142881253,142881253,G,A,R007_S,TAS2R39,Missense_Mutation,NM_176881,exon1,c.G742A,p.G248R,SNP,SNVindel,exonic,TAS2R39,NA,nonsynonymous SNV,TAS2R39:NM_176881:exon1:c.G742A:p.G248R,D,.,D,T,D,T
chr7,142983773,142983773,C,T,R007_S,TMEM139,Missense_Mutation,NM_001282876,exon3,c.C502T,p.P168S,SNP,SNVindel,exonic,TMEM139,NA,nonsynonymous SNV,"TMEM139:NM_001282876:exon3:c.C502T:p.P168S,TMEM139:NM_153345:exon3:c.C502T:p.P168S,TMEM139:NM_001242773:exon4:c.C502T:p.P168S,TMEM139:NM_001242775:exon4:c.C502T:p.P168S,TMEM139:NM_001282877:exon4:c.C502T:p.P168S,TMEM139:NM_001242774:exon5:c.C502T:p.P168S",T,N,N,.,D,T
chr7,143047738,143047738,C,T,R007_S,CLCN1,Silent,NM_000083,exon22,c.C2586T,p.A862A,SNP,SNVindel,exonic,CLCN1,NA,synonymous SNV,CLCN1:NM_000083:exon22:c.C2586T:p.A862A,NA,NA,NA,NA,NA,NA
chr7,143095127,143095127,C,T,R007_S,EPHA1,Missense_Mutation,NM_005232,exon8,c.G1501A,p.V501I,SNP,SNVindel,exonic,EPHA1,NA,nonsynonymous SNV,EPHA1:NM_005232:exon8:c.G1501A:p.V501I,T,N,D,T,N,T
chr7,143701420,143701420,G,A,R007_S,OR6B1,Missense_Mutation,NM_001005281,exon1,c.G331A,p.E111K,SNP,SNVindel,exonic,OR6B1,NA,nonsynonymous SNV,OR6B1:NM_001005281:exon1:c.G331A:p.E111K,D,U,N,T,D,T
chr7,143748058,143748058,C,T,R007_S,OR2A5,Silent,NM_012365,exon1,c.C564T,p.A188A,SNP,SNVindel,exonic,OR2A5,NA,synonymous SNV,OR2A5:NM_012365:exon1:c.C564T:p.A188A,NA,NA,NA,NA,NA,NA
chr7,143771753,143771753,C,T,R007_S,OR2A25,Silent,NM_001004488,exon1,c.C441T,p.S147S,SNP,SNVindel,exonic,OR2A25,NA,synonymous SNV,OR2A25:NM_001004488:exon1:c.C441T:p.S147S,NA,NA,NA,NA,NA,NA
chr7,144098552,144098552,G,A,R007_S,NOBOX,Missense_Mutation,NM_001080413,exon4,c.C431T,p.P144L,SNP,SNVindel,exonic,NOBOX,NA,nonsynonymous SNV,NOBOX:NM_001080413:exon4:c.C431T:p.P144L,D,.,N,D,N,T
chr7,144288640,144288640,C,T,R007_S,TPK1,Missense_Mutation,NM_001350889,exon4,c.G59A,p.G20E,SNP,SNVindel,exonic,TPK1,NA,nonsynonymous SNV,"TPK1:NM_001350889:exon4:c.G59A:p.G20E,TPK1:NM_001350885:exon5:c.G59A:p.G20E,TPK1:NM_001350887:exon5:c.G59A:p.G20E,TPK1:NM_001350884:exon6:c.G362A:p.G121E,TPK1:NM_001350893:exon6:c.G59A:p.G20E,TPK1:NM_001350894:exon6:c.G59A:p.G20E,TPK1:NM_001350879:exon7:c.G377A:p.G126E,TPK1:NM_001350881:exon7:c.G377A:p.G126E,TPK1:NM_001350883:exon7:c.G362A:p.G121E,TPK1:NM_001350886:exon7:c.G59A:p.G20E,TPK1:NM_022445:exon7:c.G377A:p.G126E,TPK1:NM_001350882:exon8:c.G362A:p.G121E,TPK1:NM_001350895:exon8:c.G26A:p.G9E",D,D,D,D,D,D
chr7,147259320,147259320,G,A,R007_S,CNTNAP2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CNTNAP2,NA,unknown,UNKNOWN,T,N,D,T,N,T
chr7,147844780,147844780,C,T,R007_S,CNTNAP2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CNTNAP2,NA,unknown,UNKNOWN,T,D,D,T,N,T
chr7,148485715,148485715,G,A,R007_S,CUL1,Missense_Mutation,NM_001370660,exon14,c.G1546A,p.D516N,SNP,SNVindel,exonic,CUL1,NA,nonsynonymous SNV,"CUL1:NM_001370660:exon14:c.G1546A:p.D516N,CUL1:NM_001370661:exon14:c.G1546A:p.D516N,CUL1:NM_001370662:exon14:c.G1546A:p.D516N,CUL1:NM_001370663:exon14:c.G1546A:p.D516N,CUL1:NM_001370664:exon14:c.G1546A:p.D516N,CUL1:NM_003592:exon14:c.G1546A:p.D516N",D,D,D,T,D,T
chr7,148700968,148700968,C,T,R007_S,PDIA4,Missense_Mutation,NM_001371244,exon10,c.G1859A,p.G620D,SNP,SNVindel,exonic,PDIA4,NA,nonsynonymous SNV,"PDIA4:NM_001371244:exon10:c.G1859A:p.G620D,PDIA4:NM_001371245:exon10:c.G1787A:p.G596D,PDIA4:NM_004911:exon10:c.G1856A:p.G619D",T,N,D,T,D,T
chr7,148768999,148768999,G,A,R007_S,ZNF786,Missense_Mutation,NM_152411,exon4,c.C865T,p.P289S,SNP,SNVindel,exonic,ZNF786,NA,nonsynonymous SNV,ZNF786:NM_152411:exon4:c.C865T:p.P289S,T,N,N,T,N,T
chr7,148801650,148801650,C,T,R007_S,ZNF425,Missense_Mutation,NM_001001661,exon4,c.G1313A,p.G438E,SNP,SNVindel,exonic,ZNF425,NA,nonsynonymous SNV,ZNF425:NM_001001661:exon4:c.G1313A:p.G438E,D,.,N,T,D,T
chr7,148851300,148851300,G,A,R007_S,ZNF398,Nonsense_Mutation,NM_170686,exon2,c.G288A,p.W96X,SNP,SNVindel,exonic,ZNF398,NA,stopgain,ZNF398:NM_170686:exon2:c.G288A:p.W96X,.,D,A,.,.,.
chr7,148895630,148895630,G,A,R007_S,ZNF282,Missense_Mutation,NM_001303481,exon2,c.G371A,p.G124E,SNP,SNVindel,exonic,ZNF282,NA,nonsynonymous SNV,"ZNF282:NM_001303481:exon2:c.G371A:p.G124E,ZNF282:NM_003575:exon2:c.G371A:p.G124E",D,D,D,T,D,T
chr7,148921003,148921003,C,T,R007_S,ZNF282,Missense_Mutation,NM_001303481,exon8,c.C1280T,p.P427L,SNP,SNVindel,exonic,ZNF282,NA,nonsynonymous SNV,"ZNF282:NM_001303481:exon8:c.C1280T:p.P427L,ZNF282:NM_003575:exon8:c.C1280T:p.P427L",D,U,N,T,N,T
chr7,148921516,148921516,G,A,R007_S,ZNF282,Missense_Mutation,NM_003575,exon8,c.G1793A,p.G598D,SNP,SNVindel,exonic,ZNF282,NA,nonsynonymous SNV,ZNF282:NM_003575:exon8:c.G1793A:p.G598D,.,D,D,.,.,T
chr7,149152621,149152621,G,A,R007_S,ZNF777,Missense_Mutation,NM_015694,exon2,c.C493T,p.P165S,SNP,SNVindel,exonic,ZNF777,NA,nonsynonymous SNV,ZNF777:NM_015694:exon2:c.C493T:p.P165S,D,N,N,T,N,T
chr7,149417970,149417970,C,T,R007_S,KRBA1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,KRBA1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,149545230,149545230,G,A,R007_S,ZNF862,Silent,NM_001099220,exon4,c.G648A,p.R216R,SNP,SNVindel,exonic,ZNF862,NA,synonymous SNV,ZNF862:NM_001099220:exon4:c.G648A:p.R216R,NA,NA,NA,NA,NA,NA
chr7,149557662,149557662,G,A,R007_S,ZNF862,Silent,NM_001099220,exon7,c.G1413A,p.G471G,SNP,SNVindel,exonic,ZNF862,NA,synonymous SNV,ZNF862:NM_001099220:exon7:c.G1413A:p.G471G,NA,NA,NA,NA,NA,NA
chr7,149558293,149558293,G,A,R007_S,ZNF862,Missense_Mutation,NM_001099220,exon7,c.G2044A,p.D682N,SNP,SNVindel,exonic,ZNF862,NA,nonsynonymous SNV,ZNF862:NM_001099220:exon7:c.G2044A:p.D682N,T,D,N,T,N,T
chr7,149576449,149576449,G,A,R007_S,ATP6V0E2,Missense_Mutation,NM_001100592,exon3,c.G325A,p.A109T,SNP,SNVindel,exonic,ATP6V0E2,NA,nonsynonymous SNV,"ATP6V0E2:NM_001100592:exon3:c.G325A:p.A109T,ATP6V0E2:NM_001289990:exon4:c.G394A:p.A132T,ATP6V0E2:NM_001367788:exon4:c.G130A:p.A44T,ATP6V0E2:NM_001367792:exon4:c.G10A:p.A4T,ATP6V0E2:NM_001367793:exon4:c.G10A:p.A4T,ATP6V0E2:NM_001367794:exon4:c.G10A:p.A4T,ATP6V0E2:NM_001367795:exon4:c.G10A:p.A4T,ATP6V0E2:NM_001367796:exon4:c.G10A:p.A4T,ATP6V0E2:NM_001367797:exon4:c.G10A:p.A4T,ATP6V0E2:NM_001367791:exon5:c.G10A:p.A4T",D,.,N,.,N,T
chr7,150027840,150027840,C,T,R007_S,ZBED6CL,Missense_Mutation,NM_138434,exon1,c.C347T,p.S116F,SNP,SNVindel,exonic,ZBED6CL,NA,nonsynonymous SNV,ZBED6CL:NM_138434:exon1:c.C347T:p.S116F,T,U,N,.,D,T
chr7,150068688,150068688,C,T,R007_S,REPIN1,Missense_Mutation,NM_001099696,exon2,c.C358T,p.L120F,SNP,SNVindel,exonic,REPIN1,NA,nonsynonymous SNV,"REPIN1:NM_001099696:exon2:c.C358T:p.L120F,REPIN1:NM_001362747:exon2:c.C358T:p.L120F,REPIN1:NM_001099695:exon3:c.C529T:p.L177F,REPIN1:NM_001362745:exon3:c.C529T:p.L177F,REPIN1:NM_001362746:exon4:c.C358T:p.L120F,REPIN1:NM_013400:exon4:c.C358T:p.L120F",T,.,D,T,N,T
chr7,150069729,150069729,G,A,R007_S,REPIN1,Missense_Mutation,NM_001099696,exon2,c.G1399A,p.A467T,SNP,SNVindel,exonic,REPIN1,NA,nonsynonymous SNV,"REPIN1:NM_001099696:exon2:c.G1399A:p.A467T,REPIN1:NM_001362747:exon2:c.G1399A:p.A467T,REPIN1:NM_001099695:exon3:c.G1570A:p.A524T,REPIN1:NM_001362745:exon3:c.G1570A:p.A524T,REPIN1:NM_001362746:exon4:c.G1399A:p.A467T,REPIN1:NM_013400:exon4:c.G1399A:p.A467T",T,.,D,T,N,T
chr7,150217614,150217614,G,A,R007_S,GIMAP7,Silent,NM_153236,exon2,c.G552A,p.E184E,SNP,SNVindel,exonic,GIMAP7,NA,synonymous SNV,GIMAP7:NM_153236:exon2:c.G552A:p.E184E,NA,NA,NA,NA,NA,NA
chr7,150434679,150434679,C,T,R007_S,GIMAP1-GIMAP5,Silent,NM_001303630,exon3,c.C105T,p.P35P,SNP,SNVindel,exonic,GIMAP1-GIMAP5,NA,synonymous SNV,"GIMAP1-GIMAP5:NM_001303630:exon3:c.C105T:p.P35P,GIMAP1-GIMAP5:NM_001199577:exon4:c.C489T:p.P163P",NA,NA,NA,NA,NA,NA
chr7,150498713,150498713,G,A,R007_S,TMEM176A,Silent,NM_018487,exon2,c.G75A,p.Q25Q,SNP,SNVindel,exonic,TMEM176A,NA,synonymous SNV,TMEM176A:NM_018487:exon2:c.G75A:p.Q25Q,NA,NA,NA,NA,NA,NA
chr7,150644050,150644050,G,A,R007_S,KCNH2,Missense_Mutation,NM_172057,exon10,c.C2225T,p.T742I,SNP,SNVindel,exonic,KCNH2,NA,nonsynonymous SNV,"KCNH2:NM_172057:exon10:c.C2225T:p.T742I,KCNH2:NM_000238:exon14:c.C3245T:p.T1082I",D,N,D,D,N,D
chr7,150646030,150646030,C,T,R007_S,KCNH2,Missense_Mutation,NM_172057,exon6,c.G1486A,p.D496N,SNP,SNVindel,exonic,KCNH2,NA,nonsynonymous SNV,"KCNH2:NM_172057:exon6:c.G1486A:p.D496N,KCNH2:NM_000238:exon10:c.G2506A:p.D836N",D,D,D,D,D,D
chr7,150691027,150691027,C,T,R007_S,NOS3,Missense_Mutation,NM_001160109,exon1,c.C136T,p.L46F,SNP,SNVindel,exonic,NOS3,NA,nonsynonymous SNV,"NOS3:NM_001160109:exon1:c.C136T:p.L46F,NOS3:NM_001160110:exon1:c.C136T:p.L46F,NOS3:NM_001160111:exon1:c.C136T:p.L46F,NOS3:NM_000603:exon2:c.C136T:p.L46F",T,N,D,T,N,T
chr7,150716311,150716311,C,T,R007_S,ATG9B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ATG9B,NA,unknown,UNKNOWN,.,N,.,.,.,T
chr7,150746176,150746176,G,A,R007_S,ASIC3,Silent,NM_004769,exon1,c.G204A,p.R68R,SNP,SNVindel,exonic,ASIC3,NA,synonymous SNV,"ASIC3:NM_004769:exon1:c.G204A:p.R68R,ASIC3:NM_020321:exon1:c.G204A:p.R68R,ASIC3:NM_020322:exon1:c.G204A:p.R68R",NA,NA,NA,NA,NA,NA
chr7,150749765,150749765,C,T,R007_S,ASIC3,Missense_Mutation,NM_020321,exon11,c.C1642T,p.P548S,SNP,SNVindel,exonic,ASIC3,NA,nonsynonymous SNV,ASIC3:NM_020321:exon11:c.C1642T:p.P548S,T,.,N,T,N,T
chr7,150864215,150864215,C,T,R007_S,GBX1,Missense_Mutation,NM_001098834,exon1,c.G421A,p.G141S,SNP,SNVindel,exonic,GBX1,NA,nonsynonymous SNV,GBX1:NM_001098834:exon1:c.G421A:p.G141S,D,U,D,D,N,T
chr7,150878297,150878297,C,T,R007_S,ASB10,Missense_Mutation,NM_001142459,exon3,c.G833A,p.S278N,SNP,SNVindel,exonic,ASB10,NA,nonsynonymous SNV,"ASB10:NM_001142459:exon3:c.G833A:p.S278N,ASB10:NM_001142460:exon3:c.G833A:p.S278N,ASB10:NM_080871:exon3:c.G788A:p.S263N",T,N,N,T,N,T
chr7,150884048,150884048,G,A,R007_S,ASB10,Missense_Mutation,NM_001142459,exon1,c.C170T,p.A57V,SNP,SNVindel,exonic,ASB10,NA,nonsynonymous SNV,"ASB10:NM_001142459:exon1:c.C170T:p.A57V,ASB10:NM_001142460:exon1:c.C170T:p.A57V",T,.,D,T,N,T
chr7,150884623,150884623,G,A,R007_S,ASB10,Nonsense_Mutation,NM_080871,exon1,c.C187T,p.Q63X,SNP,SNVindel,exonic,ASB10,NA,stopgain,ASB10:NM_080871:exon1:c.C187T:p.Q63X,.,N,A,.,.,.
chr7,150904979,150904979,G,A,R007_S,LOC114483833,Missense_Mutation,NM_001369125,exon2,c.C434T,p.T145I,SNP,SNVindel,exonic,LOC114483833,NA,nonsynonymous SNV,LOC114483833:NM_001369125:exon2:c.C434T:p.T145I,NA,NA,NA,NA,NA,NA
chr7,150936225,150936225,C,T,R007_S,SMARCD3,Silent,NM_001003801,exon13,c.G1416A,p.Q472Q,SNP,SNVindel,exonic,SMARCD3,NA,synonymous SNV,"SMARCD3:NM_001003801:exon13:c.G1416A:p.Q472Q,SMARCD3:NM_001003802:exon14:c.G1377A:p.Q459Q,SMARCD3:NM_003078:exon14:c.G1377A:p.Q459Q",NA,NA,NA,NA,NA,NA
chr7,150972234,150972234,G,A,R007_S,SMARCD3,Missense_Mutation,NM_001003802,exon2,c.C5T,p.T2I,SNP,SNVindel,exonic,SMARCD3,NA,nonsynonymous SNV,"SMARCD3:NM_001003802:exon2:c.C5T:p.T2I,SMARCD3:NM_003078:exon2:c.C5T:p.T2I",D,.,N,T,N,T
chr7,151845377,151845377,G,A,R007_S,KMT2C,Silent,NM_170606,exon52,c.C13635T,p.D4545D,SNP,SNVindel,exonic,KMT2C,NA,synonymous SNV,KMT2C:NM_170606:exon52:c.C13635T:p.D4545D,NA,NA,NA,NA,NA,NA
chr7,154677428,154677428,C,T,R007_S,DPP6,Missense_Mutation,NM_001290252,exon20,c.C1898T,p.S633F,SNP,SNVindel,exonic,DPP6,NA,nonsynonymous SNV,"DPP6:NM_001290252:exon20:c.C1898T:p.S633F,DPP6:NM_001039350:exon22:c.C2027T:p.S676F,DPP6:NM_001936:exon22:c.C2033T:p.S678F,DPP6:NM_130797:exon22:c.C2219T:p.S740F,DPP6:NM_001364497:exon23:c.C2036T:p.S679F,DPP6:NM_001364498:exon23:c.C2036T:p.S679F,DPP6:NM_001364499:exon23:c.C2036T:p.S679F,DPP6:NM_001364500:exon23:c.C2036T:p.S679F",D,D,D,T,D,T
chr7,155599419,155599419,C,T,R007_S,SHH,Missense_Mutation,NM_001310462,exon2,c.G25A,p.G9R,SNP,SNVindel,exonic,SHH,NA,nonsynonymous SNV,SHH:NM_001310462:exon2:c.G25A:p.G9R,D,.,N,D,N,D
chr7,157013421,157013421,G,A,R007_S,UBE3C,Nonsense_Mutation,NM_014671,exon15,c.G1953A,p.W651X,SNP,SNVindel,exonic,UBE3C,NA,stopgain,UBE3C:NM_014671:exon15:c.G1953A:p.W651X,.,D,A,.,.,.
chr7,157023933,157023933,G,A,R007_S,UBE3C,Missense_Mutation,NM_014671,exon18,c.G2393A,p.G798E,SNP,SNVindel,exonic,UBE3C,NA,nonsynonymous SNV,UBE3C:NM_014671:exon18:c.G2393A:p.G798E,T,D,D,T,N,T
chr7,157046681,157046681,C,T,R007_S,UBE3C,Missense_Mutation,NM_014671,exon20,c.C2728T,p.P910S,SNP,SNVindel,exonic,UBE3C,NA,nonsynonymous SNV,UBE3C:NM_014671:exon20:c.C2728T:p.P910S,D,D,D,T,D,T
chr7,158684004,158684004,C,T,R007_S,WDR60,Missense_Mutation,NM_001350915,exon7,c.C466T,p.P156S,SNP,SNVindel,exonic,WDR60,NA,nonsynonymous SNV,"WDR60:NM_001350915:exon7:c.C466T:p.P156S,WDR60:NM_001350914:exon8:c.C901T:p.P301S,WDR60:NM_018051:exon8:c.C1039T:p.P347S",T,U,N,T,N,T
chr7,158695103,158695103,G,A,R007_S,WDR60,Missense_Mutation,NM_001350915,exon9,c.G601A,p.D201N,SNP,SNVindel,exonic,WDR60,NA,nonsynonymous SNV,"WDR60:NM_001350915:exon9:c.G601A:p.D201N,WDR60:NM_001350914:exon10:c.G1036A:p.D346N,WDR60:NM_018051:exon10:c.G1174A:p.D392N",T,N,D,T,N,T
chr7,158718905,158718905,G,A,R007_S,WDR60,Missense_Mutation,NM_001350915,exon17,c.G1712A,p.R571Q,SNP,SNVindel,exonic,WDR60,NA,nonsynonymous SNV,"WDR60:NM_001350915:exon17:c.G1712A:p.R571Q,WDR60:NM_001350916:exon17:c.G824A:p.R275Q,WDR60:NM_001350914:exon18:c.G2147A:p.R716Q,WDR60:NM_018051:exon18:c.G2285A:p.R762Q,WDR60:NM_001350917:exon19:c.G1037A:p.R346Q,WDR60:NM_001350918:exon20:c.G1037A:p.R346Q",T,N,N,T,N,T
chr8,623422,623422,C,T,R007_S,ERICH1,Silent,NM_001303100,exon4,c.G930A,p.G310G,SNP,SNVindel,exonic,ERICH1,NA,synonymous SNV,"ERICH1:NM_001303100:exon4:c.G930A:p.G310G,ERICH1:NM_207332:exon4:c.G930A:p.G310G",NA,NA,NA,NA,NA,NA
chr8,1496852,1496852,C,T,R007_S,DLGAP2,Missense_Mutation,NM_001346810,exon5,c.C233T,p.P78L,SNP,SNVindel,exonic,DLGAP2,NA,nonsynonymous SNV,DLGAP2:NM_001346810:exon5:c.C233T:p.P78L,NA,NA,NA,NA,NA,NA
chr8,1581089,1581089,G,A,R007_S,DLGAP2,Missense_Mutation,NM_001346810,exon8,c.G1687A,p.G563R,SNP,SNVindel,exonic,DLGAP2,NA,nonsynonymous SNV,DLGAP2:NM_001346810:exon8:c.G1687A:p.G563R,D,D,D,D,D,D
chr8,1719726,1719726,G,A,R007_S,CLN8,Missense_Mutation,NM_018941,exon2,c.G506A,p.S169N,SNP,SNVindel,exonic,CLN8,NA,nonsynonymous SNV,CLN8:NM_018941:exon2:c.G506A:p.S169N,T,U,D,D,N,D
chr8,2021511,2021511,G,A,R007_S,MYOM2,Missense_Mutation,NM_003970,exon10,c.G1051A,p.G351S,SNP,SNVindel,exonic,MYOM2,NA,nonsynonymous SNV,MYOM2:NM_003970:exon10:c.G1051A:p.G351S,D,D,D,T,D,T
chr8,2037939,2037939,G,A,R007_S,MYOM2,Missense_Mutation,NM_003970,exon15,c.G1753A,p.V585M,SNP,SNVindel,exonic,MYOM2,NA,nonsynonymous SNV,MYOM2:NM_003970:exon15:c.G1753A:p.V585M,D,D,D,T,D,D
chr8,9605546,9605546,G,A,R007_S,TNKS,Missense_Mutation,NM_003747,exon18,c.G2656A,p.A886T,SNP,SNVindel,exonic,TNKS,NA,nonsynonymous SNV,TNKS:NM_003747:exon18:c.G2656A:p.A886T,T,D,D,T,D,T
chr8,10285761,10285761,C,T,R007_S,MSRA,Missense_Mutation,NM_001135670,exon5,c.C527T,p.P176L,SNP,SNVindel,exonic,MSRA,NA,nonsynonymous SNV,"MSRA:NM_001135670:exon5:c.C527T:p.P176L,MSRA:NM_001135671:exon6:c.C518T:p.P173L,MSRA:NM_012331:exon6:c.C647T:p.P216L,MSRA:NM_001199729:exon7:c.C449T:p.P150L",D,D,D,.,D,D
chr8,10466150,10466150,C,T,R007_S,RP1L1,Missense_Mutation,NM_178857,exon4,c.G5458A,p.A1820T,SNP,SNVindel,exonic,RP1L1,NA,nonsynonymous SNV,RP1L1:NM_178857:exon4:c.G5458A:p.A1820T,D,U,N,T,N,T
chr8,10470105,10470105,C,T,R007_S,RP1L1,Silent,NM_178857,exon4,c.G1503A,p.E501E,SNP,SNVindel,exonic,RP1L1,NA,synonymous SNV,RP1L1:NM_178857:exon4:c.G1503A:p.E501E,NA,NA,NA,NA,NA,NA
chr8,10555178,10555178,C,T,R007_S,C8orf74,Missense_Mutation,NM_001040032,exon3,c.C311T,p.T104I,SNP,SNVindel,exonic,C8orf74,NA,nonsynonymous SNV,C8orf74:NM_001040032:exon3:c.C311T:p.T104I,T,N,N,T,N,T
chr8,12956975,12956975,G,A,R007_S,DLC1,Silent,NM_001348084,exon4,c.C1338T,p.D446D,SNP,SNVindel,exonic,DLC1,NA,synonymous SNV,"DLC1:NM_001348084:exon4:c.C1338T:p.D446D,DLC1:NM_001164271:exon5:c.C1338T:p.D446D,DLC1:NM_001316668:exon5:c.C1662T:p.D554D,DLC1:NM_001348083:exon5:c.C1338T:p.D446D,DLC1:NM_006094:exon5:c.C1560T:p.D520D,DLC1:NM_001348082:exon8:c.C1338T:p.D446D,DLC1:NM_001348081:exon9:c.C2871T:p.D957D,DLC1:NM_182643:exon9:c.C2871T:p.D957D",NA,NA,NA,NA,NA,NA
chr8,12957365,12957365,G,A,R007_S,DLC1,Silent,NM_001348084,exon4,c.C948T,p.F316F,SNP,SNVindel,exonic,DLC1,NA,synonymous SNV,"DLC1:NM_001348084:exon4:c.C948T:p.F316F,DLC1:NM_001164271:exon5:c.C948T:p.F316F,DLC1:NM_001316668:exon5:c.C1272T:p.F424F,DLC1:NM_001348083:exon5:c.C948T:p.F316F,DLC1:NM_006094:exon5:c.C1170T:p.F390F,DLC1:NM_001348082:exon8:c.C948T:p.F316F,DLC1:NM_001348081:exon9:c.C2481T:p.F827F,DLC1:NM_182643:exon9:c.C2481T:p.F827F",NA,NA,NA,NA,NA,NA
chr8,12957627,12957627,G,A,R007_S,DLC1,Missense_Mutation,NM_001348084,exon4,c.C686T,p.T229I,SNP,SNVindel,exonic,DLC1,NA,nonsynonymous SNV,"DLC1:NM_001348084:exon4:c.C686T:p.T229I,DLC1:NM_001164271:exon5:c.C686T:p.T229I,DLC1:NM_001316668:exon5:c.C1010T:p.T337I,DLC1:NM_001348083:exon5:c.C686T:p.T229I,DLC1:NM_006094:exon5:c.C908T:p.T303I,DLC1:NM_001348082:exon8:c.C686T:p.T229I,DLC1:NM_001348081:exon9:c.C2219T:p.T740I,DLC1:NM_182643:exon9:c.C2219T:p.T740I",D,D,D,T,D,T
chr8,13357127,13357127,G,A,R007_S,DLC1,Missense_Mutation,NM_001348081,exon2,c.C454T,p.P152S,SNP,SNVindel,exonic,DLC1,NA,nonsynonymous SNV,"DLC1:NM_001348081:exon2:c.C454T:p.P152S,DLC1:NM_024767:exon2:c.C454T:p.P152S,DLC1:NM_182643:exon2:c.C454T:p.P152S",T,N,N,T,N,T
chr8,18729140,18729140,C,T,R007_S,PSD3,Missense_Mutation,NM_001362819,exon2,c.G1135A,p.E379K,SNP,SNVindel,exonic,PSD3,NA,nonsynonymous SNV,"PSD3:NM_001362819:exon2:c.G1135A:p.E379K,PSD3:NM_015310:exon3:c.G1234A:p.E412K",T,N,N,T,N,T
chr8,19251000,19251000,G,A,R007_S,SH2D4A,Missense_Mutation,NM_001174160,exon8,c.G1085A,p.G362D,SNP,SNVindel,exonic,SH2D4A,NA,nonsynonymous SNV,"SH2D4A:NM_001174160:exon8:c.G1085A:p.G362D,SH2D4A:NM_001363110:exon8:c.G1139A:p.G380D,SH2D4A:NM_001363111:exon8:c.G1139A:p.G380D,SH2D4A:NM_001174159:exon9:c.G1220A:p.G407D,SH2D4A:NM_022071:exon9:c.G1220A:p.G407D",D,D,D,T,D,T
chr8,19251037,19251037,G,T,R007_S,SH2D4A,Missense_Mutation,NM_001174160,exon8,c.G1122T,p.L374F,SNP,SNVindel,exonic,SH2D4A,NA,nonsynonymous SNV,"SH2D4A:NM_001174160:exon8:c.G1122T:p.L374F,SH2D4A:NM_001363110:exon8:c.G1176T:p.L392F,SH2D4A:NM_001363111:exon8:c.G1176T:p.L392F,SH2D4A:NM_001174159:exon9:c.G1257T:p.L419F,SH2D4A:NM_022071:exon9:c.G1257T:p.L419F",D,D,D,D,D,D
chr8,20107693,20107693,C,T,R007_S,LZTS1,Missense_Mutation,NM_001362884,exon4,c.G1331A,p.G444D,SNP,SNVindel,exonic,LZTS1,NA,nonsynonymous SNV,"LZTS1:NM_001362884:exon4:c.G1331A:p.G444D,LZTS1:NM_021020:exon4:c.G1331A:p.G444D",T,N,N,T,N,T
chr8,21562607,21562607,G,A,R007_S,GFRA2,Missense_Mutation,NM_001165039,exon4,c.C536T,p.S179F,SNP,SNVindel,exonic,GFRA2,NA,nonsynonymous SNV,"GFRA2:NM_001165039:exon4:c.C536T:p.S179F,GFRA2:NM_001165038:exon5:c.C620T:p.S207F,GFRA2:NM_001495:exon6:c.C935T:p.S312F",D,N,D,T,D,T
chr8,21956037,21956037,C,T,R007_S,FAM160B2,Missense_Mutation,NM_001354250,exon7,c.C869T,p.P290L,SNP,SNVindel,exonic,FAM160B2,NA,nonsynonymous SNV,"FAM160B2:NM_001354250:exon7:c.C869T:p.P290L,FAM160B2:NM_022749:exon7:c.C872T:p.P291L,FAM160B2:NM_001354251:exon8:c.C698T:p.P233L",T,N,N,T,N,T
chr8,21984749,21984749,C,T,R007_S,HR,Silent,NM_005144,exon3,c.G1206A,p.E402E,SNP,SNVindel,exonic,HR,NA,synonymous SNV,"HR:NM_005144:exon3:c.G1206A:p.E402E,HR:NM_018411:exon3:c.G1206A:p.E402E",NA,NA,NA,NA,NA,NA
chr8,22034111,22034111,C,T,R007_S,BMP1,Silent,NM_001199,exon4,c.C499T,p.L167L,SNP,SNVindel,exonic,BMP1,NA,synonymous SNV,"BMP1:NM_001199:exon4:c.C499T:p.L167L,BMP1:NM_006129:exon4:c.C499T:p.L167L",NA,NA,NA,NA,NA,NA
chr8,22052414,22052414,G,A,R007_S,BMP1,Missense_Mutation,NM_001199,exon12,c.G1621A,p.A541T,SNP,SNVindel,exonic,BMP1,NA,nonsynonymous SNV,"BMP1:NM_001199:exon12:c.G1621A:p.A541T,BMP1:NM_006129:exon12:c.G1621A:p.A541T",T,U,D,T,N,T
chr8,22084395,22084395,G,A,R007_S,PHYHIP,Silent,NM_001363312,exon3,c.C309T,p.G103G,SNP,SNVindel,exonic,PHYHIP,NA,synonymous SNV,"PHYHIP:NM_001363312:exon3:c.C309T:p.G103G,PHYHIP:NM_014759:exon3:c.C309T:p.G103G,PHYHIP:NM_001099335:exon4:c.C309T:p.G103G,PHYHIP:NM_001363311:exon4:c.C309T:p.G103G",NA,NA,NA,NA,NA,NA
chr8,22584732,22584732,C,T,R007_S,PEBP4,Missense_Mutation,NM_001363233,exon5,c.G359A,p.G120D,SNP,SNVindel,exonic,PEBP4,NA,nonsynonymous SNV,"PEBP4:NM_001363233:exon5:c.G359A:p.G120D,PEBP4:NM_144962:exon5:c.G359A:p.G120D",D,D,D,T,D,T
chr8,23186003,23186003,C,T,R007_S,LOXL2,Missense_Mutation,NM_002318,exon6,c.G1042A,p.G348R,SNP,SNVindel,exonic,LOXL2,NA,nonsynonymous SNV,LOXL2:NM_002318:exon6:c.G1042A:p.G348R,D,D,D,T,D,D
chr8,24775532,24775532,G,A,R007_S,NEFM,Missense_Mutation,NM_001105541,exon3,c.G1036A,p.E346K,SNP,SNVindel,exonic,NEFM,NA,nonsynonymous SNV,"NEFM:NM_001105541:exon3:c.G1036A:p.E346K,NEFM:NM_005382:exon3:c.G2164A:p.E722K",T,N,D,D,N,T
chr8,24813545,24813545,C,T,R007_S,NEFL,Missense_Mutation,NM_006158,exon1,c.G485A,p.G162D,SNP,SNVindel,exonic,NEFL,NA,nonsynonymous SNV,NEFL:NM_006158:exon1:c.G485A:p.G162D,.,.,.,.,.,.
chr8,25261231,25261231,G,A,R007_S,DOCK5,Missense_Mutation,NM_024940,exon48,c.G5084A,p.G1695E,SNP,SNVindel,exonic,DOCK5,NA,nonsynonymous SNV,DOCK5:NM_024940:exon48:c.G5084A:p.G1695E,T,N,D,T,N,T
chr8,25266399,25266399,C,T,R007_S,DOCK5,Missense_Mutation,NM_024940,exon50,c.C5347T,p.P1783S,SNP,SNVindel,exonic,DOCK5,NA,nonsynonymous SNV,DOCK5:NM_024940:exon50:c.C5347T:p.P1783S,T,N,N,T,N,T
chr8,25365211,25365211,C,T,R007_S,CDCA2,Missense_Mutation,NM_001317906,exon14,c.C2984T,p.T995I,SNP,SNVindel,exonic,CDCA2,NA,nonsynonymous SNV,"CDCA2:NM_001317906:exon14:c.C2984T:p.T995I,CDCA2:NM_152562:exon15:c.C3029T:p.T1010I",T,N,N,T,N,T
chr8,27145256,27145256,C,T,R007_S,TRIM35,Silent,NM_171982,exon6,c.G1293A,p.E431E,SNP,SNVindel,exonic,TRIM35,NA,synonymous SNV,TRIM35:NM_171982:exon6:c.G1293A:p.E431E,NA,NA,NA,NA,NA,NA
chr8,27456060,27456060,G,A,R007_S,CLU,Silent,NM_001831,exon8,c.C1257T,p.V419V,SNP,SNVindel,exonic,CLU,NA,synonymous SNV,CLU:NM_001831:exon8:c.C1257T:p.V419V,NA,NA,NA,NA,NA,NA
chr8,27462658,27462658,G,A,R007_S,CLU,Silent,NM_001831,exon5,c.C612T,p.Y204Y,SNP,SNVindel,exonic,CLU,NA,synonymous SNV,CLU:NM_001831:exon5:c.C612T:p.Y204Y,NA,NA,NA,NA,NA,NA
chr8,27516036,27516036,T,A,R007_S,SCARA3,Missense_Mutation,NM_016240,exon5,c.T349A,p.S117T,SNP,SNVindel,exonic,SCARA3,NA,nonsynonymous SNV,"SCARA3:NM_016240:exon5:c.T349A:p.S117T,SCARA3:NM_182826:exon5:c.T349A:p.S117T",T,D,D,T,N,D
chr8,27729548,27729548,C,T,R007_S,SCARA5,Missense_Mutation,NM_173833,exon9,c.G1391A,p.G464D,SNP,SNVindel,exonic,SCARA5,NA,nonsynonymous SNV,SCARA5:NM_173833:exon9:c.G1391A:p.G464D,D,D,D,T,D,D
chr8,28186779,28186779,C,T,R007_S,PNOC,Silent,NM_006228,exon2,c.C105T,p.A35A,SNP,SNVindel,exonic,PNOC,NA,synonymous SNV,PNOC:NM_006228:exon2:c.C105T:p.A35A,NA,NA,NA,NA,NA,NA
chr8,28385176,28385176,G,A,R007_S,FZD3,Missense_Mutation,NM_145866,exon4,c.G899A,p.G300D,SNP,SNVindel,exonic,FZD3,NA,nonsynonymous SNV,"FZD3:NM_145866:exon4:c.G899A:p.G300D,FZD3:NM_017412:exon5:c.G899A:p.G300D",D,D,D,D,D,D
chr8,28574637,28574637,G,A,R007_S,EXTL3,Missense_Mutation,NM_001440,exon3,c.G1061A,p.R354K,SNP,SNVindel,exonic,EXTL3,NA,nonsynonymous SNV,EXTL3:NM_001440:exon3:c.G1061A:p.R354K,T,D,D,D,N,D
chr8,31012148,31012148,C,T,R007_S,WRN,Silent,NM_000553,exon32,c.C3696T,p.L1232L,SNP,SNVindel,exonic,WRN,NA,synonymous SNV,WRN:NM_000553:exon32:c.C3696T:p.L1232L,NA,NA,NA,NA,NA,NA
chr8,35608208,35608208,C,T,R007_S,UNC5D,Missense_Mutation,NM_001322818,exon13,c.C2029T,p.P677S,SNP,SNVindel,exonic,UNC5D,NA,nonsynonymous SNV,"UNC5D:NM_001322818:exon13:c.C2029T:p.P677S,UNC5D:NM_080872:exon13:c.C2044T:p.P682S",T,D,D,T,N,T
chr8,37554981,37554981,G,A,R007_S,ZNF703,Missense_Mutation,NM_025069,exon2,c.G562A,p.D188N,SNP,SNVindel,exonic,ZNF703,NA,nonsynonymous SNV,ZNF703:NM_025069:exon2:c.G562A:p.D188N,T,D,D,T,D,T
chr8,37729607,37729607,C,T,R007_S,RAB11FIP1,Missense_Mutation,NM_001002814,exon4,c.G2713A,p.A905T,SNP,SNVindel,exonic,RAB11FIP1,NA,nonsynonymous SNV,RAB11FIP1:NM_001002814:exon4:c.G2713A:p.A905T,T,N,N,T,N,T
chr8,37791876,37791876,G,A,R007_S,GOT1L1,Missense_Mutation,NM_152413,exon9,c.C1201T,p.L401F,SNP,SNVindel,exonic,GOT1L1,NA,nonsynonymous SNV,GOT1L1:NM_152413:exon9:c.C1201T:p.L401F,T,N,N,T,N,T
chr8,38027393,38027393,C,T,R007_S,LSM1,Missense_Mutation,NM_014462,exon3,c.G158A,p.G53D,SNP,SNVindel,exonic,LSM1,NA,nonsynonymous SNV,LSM1:NM_014462:exon3:c.G158A:p.G53D,T,D,D,T,D,T
chr8,38065195,38065195,C,T,R007_S,BAG4,Missense_Mutation,NM_001204878,exon2,c.C436T,p.P146S,SNP,SNVindel,exonic,BAG4,NA,nonsynonymous SNV,"BAG4:NM_001204878:exon2:c.C436T:p.P146S,BAG4:NM_004874:exon3:c.C544T:p.P182S",D,D,D,D,N,D
chr8,38272347,38272347,C,T,R007_S,FGFR1,Missense_Mutation,NM_001174066,exon13,c.G1660A,p.G554S,SNP,SNVindel,exonic,FGFR1,NA,nonsynonymous SNV,"FGFR1:NM_001174066:exon13:c.G1660A:p.G554S,FGFR1:NM_001354368:exon13:c.G1648A:p.G550S,FGFR1:NM_001354370:exon13:c.G1654A:p.G552S,FGFR1:NM_023105:exon13:c.G1660A:p.G554S,FGFR1:NM_023106:exon13:c.G1654A:p.G552S,FGFR1:NM_001174063:exon14:c.G1921A:p.G641S,FGFR1:NM_001174065:exon14:c.G1921A:p.G641S,FGFR1:NM_001354367:exon14:c.G1921A:p.G641S,FGFR1:NM_001354369:exon14:c.G1915A:p.G639S,FGFR1:NM_015850:exon14:c.G1921A:p.G641S,FGFR1:NM_023110:exon14:c.G1927A:p.G643S,FGFR1:NM_001174064:exon15:c.G1897A:p.G633S,FGFR1:NM_001174067:exon15:c.G2020A:p.G674S",D,D,D,D,D,T
chr8,39022295,39022295,G,A,R007_S,ADAM32,Missense_Mutation,NM_001313994,exon7,c.G628A,p.G210S,SNP,SNVindel,exonic,ADAM32,NA,nonsynonymous SNV,"ADAM32:NM_001313994:exon7:c.G628A:p.G210S,ADAM32:NM_145004:exon8:c.G607A:p.G203S",D,N,D,T,D,T
chr8,41348484,41348484,G,A,R007_S,GOLGA7,Silent,NM_001002296,exon1,c.G111A,p.R37R,SNP,SNVindel,exonic,GOLGA7,NA,synonymous SNV,"GOLGA7:NM_001002296:exon1:c.G111A:p.R37R,GOLGA7:NM_001174124:exon2:c.G111A:p.R37R,GOLGA7:NM_001362979:exon2:c.G111A:p.R37R,GOLGA7:NM_001362980:exon2:c.G111A:p.R37R,GOLGA7:NM_016099:exon2:c.G111A:p.R37R",NA,NA,NA,NA,NA,NA
chr8,41518994,41518994,C,T,R007_S,ANK1,Missense_Mutation,NM_020478,exon4,c.G458A,p.G153E,SNP,SNVindel,exonic,ANK1,NA,nonsynonymous SNV,"ANK1:NM_020478:exon4:c.G458A:p.G153E,ANK1:NM_000037:exon42:c.G5633A:p.G1878E",D,U,D,T,N,D
chr8,41561903,41561903,C,T,R007_S,ANK1,Missense_Mutation,NM_000037,exon19,c.G2185A,p.A729T,SNP,SNVindel,exonic,ANK1,NA,nonsynonymous SNV,"ANK1:NM_000037:exon19:c.G2185A:p.A729T,ANK1:NM_001142446:exon19:c.G2284A:p.A762T,ANK1:NM_020475:exon19:c.G2185A:p.A729T,ANK1:NM_020476:exon19:c.G2185A:p.A729T,ANK1:NM_020477:exon19:c.G2185A:p.A729T",D,D,D,T,D,T
chr8,41584854,41584854,G,A,R007_S,ANK1,Missense_Mutation,NM_000037,exon5,c.C340T,p.P114S,SNP,SNVindel,exonic,ANK1,NA,nonsynonymous SNV,"ANK1:NM_000037:exon5:c.C340T:p.P114S,ANK1:NM_001142446:exon5:c.C439T:p.P147S,ANK1:NM_020475:exon5:c.C340T:p.P114S,ANK1:NM_020476:exon5:c.C340T:p.P114S,ANK1:NM_020477:exon5:c.C340T:p.P114S",D,D,D,T,D,D
chr8,42174255,42174255,G,A,R007_S,IKBKB,Missense_Mutation,NM_001190720,exon10,c.G952A,p.G318S,SNP,SNVindel,exonic,IKBKB,NA,nonsynonymous SNV,"IKBKB:NM_001190720:exon10:c.G952A:p.G318S,IKBKB:NM_001242778:exon10:c.G781A:p.G261S,IKBKB:NM_001556:exon11:c.G958A:p.G320S",T,D,D,T,N,T
chr8,42231770,42231770,C,T,R007_S,DKK4,Missense_Mutation,NM_014420,exon4,c.G523A,p.V175I,SNP,SNVindel,exonic,DKK4,NA,nonsynonymous SNV,DKK4:NM_014420:exon4:c.G523A:p.V175I,D,D,D,D,N,D
chr8,42611063,42611063,G,A,R007_S,CHRNA6,Missense_Mutation,NM_001199279,exon4,c.C1234T,p.P412S,SNP,SNVindel,exonic,CHRNA6,NA,nonsynonymous SNV,"CHRNA6:NM_001199279:exon4:c.C1234T:p.P412S,CHRNA6:NM_004198:exon5:c.C1279T:p.P427S",T,N,D,D,D,T
chr8,48689441,48689441,C,T,R007_S,PRKDC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PRKDC,NA,unknown,UNKNOWN,.,D,D,.,.,T
chr8,48772299,48772299,G,A,R007_S,PRKDC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PRKDC,NA,unknown,UNKNOWN,.,D,D,.,.,T
chr8,48875360,48875360,G,A,R007_S,MCM4,Missense_Mutation,NM_005914,exon5,c.G538A,p.E180K,SNP,SNVindel,exonic,MCM4,NA,nonsynonymous SNV,"MCM4:NM_005914:exon5:c.G538A:p.E180K,MCM4:NM_182746:exon6:c.G538A:p.E180K",T,D,D,T,N,T
chr8,53852575,53852575,G,A,R007_S,NPBWR1,Silent,NM_005285,exon1,c.G108A,p.L36L,SNP,SNVindel,exonic,NPBWR1,NA,synonymous SNV,NPBWR1:NM_005285:exon1:c.G108A:p.L36L,NA,NA,NA,NA,NA,NA
chr8,55539927,55539927,C,T,R007_S,RP1,Missense_Mutation,NM_006269,exon4,c.C3485T,p.A1162V,SNP,SNVindel,exonic,RP1,NA,nonsynonymous SNV,RP1:NM_006269:exon4:c.C3485T:p.A1162V,T,N,N,T,N,T
chr8,55540419,55540419,C,T,R007_S,RP1,Missense_Mutation,NM_006269,exon4,c.C3977T,p.A1326V,SNP,SNVindel,exonic,RP1,NA,nonsynonymous SNV,RP1:NM_006269:exon4:c.C3977T:p.A1326V,D,N,N,T,N,T
chr8,56686250,56686250,C,T,R007_S,TGS1,Silent,NM_024831,exon1,c.C73T,p.L25L,SNP,SNVindel,exonic,TGS1,NA,synonymous SNV,TGS1:NM_024831:exon1:c.C73T:p.L25L,NA,NA,NA,NA,NA,NA
chr8,56986276,56986276,C,T,R007_S,RPS20,Missense_Mutation,NM_001023,exon3,c.G155A,p.G52E,SNP,SNVindel,exonic,RPS20,NA,nonsynonymous SNV,"RPS20:NM_001023:exon3:c.G155A:p.G52E,RPS20:NM_001146227:exon3:c.G155A:p.G52E",D,D,D,.,D,D
chr8,61192368,61192368,C,T,R007_S,CA8,Missense_Mutation,NM_001321837,exon2,c.G172A,p.E58K,SNP,SNVindel,exonic,CA8,NA,nonsynonymous SNV,"CA8:NM_001321837:exon2:c.G172A:p.E58K,CA8:NM_001321838:exon2:c.G172A:p.E58K,CA8:NM_001321839:exon2:c.G172A:p.E58K,CA8:NM_004056:exon2:c.G172A:p.E58K",D,N,D,T,N,T
chr8,61655383,61655383,G,A,R007_S,CHD7,Missense_Mutation,NM_001316690,exon1,c.G1392A,p.M464I,SNP,SNVindel,exonic,CHD7,NA,nonsynonymous SNV,"CHD7:NM_001316690:exon1:c.G1392A:p.M464I,CHD7:NM_017780:exon2:c.G1392A:p.M464I",T,N,N,T,N,T
chr8,61749500,61749500,G,A,R007_S,CHD7,Missense_Mutation,NM_017780,exon17,c.G4114A,p.G1372S,SNP,SNVindel,exonic,CHD7,NA,nonsynonymous SNV,CHD7:NM_017780:exon17:c.G4114A:p.G1372S,D,D,D,D,D,D
chr8,61773636,61773636,G,A,R007_S,CHD7,Nonsense_Mutation,NM_017780,exon35,c.G7782A,p.W2594X,SNP,SNVindel,exonic,CHD7,NA,stopgain,CHD7:NM_017780:exon35:c.G7782A:p.W2594X,.,D,A,.,.,.
chr8,67873670,67873670,C,T,R007_S,TCF24,Missense_Mutation,NM_001193502,exon3,c.G331A,p.A111T,SNP,SNVindel,exonic,TCF24,NA,nonsynonymous SNV,TCF24:NM_001193502:exon3:c.G331A:p.A111T,T,.,N,D,N,.
chr8,68204200,68204200,G,A,R007_S,ARFGEF1,Silent,NM_006421,exon6,c.C798T,p.D266D,SNP,SNVindel,exonic,ARFGEF1,NA,synonymous SNV,ARFGEF1:NM_006421:exon6:c.C798T:p.D266D,NA,NA,NA,NA,NA,NA
chr8,69032449,69032449,C,T,R007_S,PREX2,Missense_Mutation,NM_024870,exon29,c.C3523T,p.L1175F,SNP,SNVindel,exonic,PREX2,NA,nonsynonymous SNV,PREX2:NM_024870:exon29:c.C3523T:p.L1175F,D,N,D,T,N,T
chr8,70744880,70744880,C,T,R007_S,SLCO5A1,Missense_Mutation,NM_001146008,exon1,c.G29A,p.G10E,SNP,SNVindel,exonic,SLCO5A1,NA,nonsynonymous SNV,"SLCO5A1:NM_001146008:exon1:c.G29A:p.G10E,SLCO5A1:NM_001146009:exon1:c.G29A:p.G10E,SLCO5A1:NM_030958:exon2:c.G29A:p.G10E",T,N,N,T,N,T
chr8,71040686,71040686,C,T,R007_S,NCOA2,Silent,NM_001321711,exon17,c.G3456A,p.R1152R,SNP,SNVindel,exonic,NCOA2,NA,synonymous SNV,"NCOA2:NM_001321711:exon17:c.G3456A:p.R1152R,NCOA2:NM_001321712:exon17:c.G3456A:p.R1152R,NCOA2:NM_001321713:exon17:c.G3201A:p.R1067R,NCOA2:NM_001321703:exon18:c.G3663A:p.R1221R,NCOA2:NM_001321707:exon18:c.G3663A:p.R1221R,NCOA2:NM_006540:exon18:c.G3663A:p.R1221R",NA,NA,NA,NA,NA,NA
chr8,72127893,72127893,G,A,R007_S,EYA1,Silent,NM_172058,exon14,c.C1431T,p.S477S,SNP,SNVindel,exonic,EYA1,NA,synonymous SNV,"EYA1:NM_172058:exon14:c.C1431T:p.S477S,EYA1:NM_000503:exon15:c.C1431T:p.S477S,EYA1:NM_001288574:exon15:c.C1413T:p.S471S,EYA1:NM_001288575:exon15:c.C1065T:p.S355S,EYA1:NM_001370336:exon15:c.C1410T:p.S470S,EYA1:NM_172059:exon15:c.C1413T:p.S471S,EYA1:NM_001370333:exon16:c.C1518T:p.S506S,EYA1:NM_001370334:exon17:c.C1431T:p.S477S,EYA1:NM_001370335:exon18:c.C1431T:p.S477S",NA,NA,NA,NA,NA,NA
chr8,73849457,73849457,C,T,R007_S,KCNB2,Missense_Mutation,NM_004770,exon3,c.C1867T,p.P623S,SNP,SNVindel,exonic,KCNB2,NA,nonsynonymous SNV,KCNB2:NM_004770:exon3:c.C1867T:p.P623S,T,N,D,T,N,T
chr8,75227354,75227354,C,T,R007_S,JPH1,Missense_Mutation,NM_001317830,exon2,c.G881A,p.G294D,SNP,SNVindel,exonic,JPH1,NA,nonsynonymous SNV,"JPH1:NM_001317830:exon2:c.G881A:p.G294D,JPH1:NM_001363050:exon2:c.G881A:p.G294D,JPH1:NM_001363051:exon2:c.G881A:p.G294D,JPH1:NM_020647:exon2:c.G881A:p.G294D",D,D,D,D,D,D
chr8,75227377,75227377,C,T,R007_S,JPH1,Silent,NM_001317830,exon2,c.G858A,p.K286K,SNP,SNVindel,exonic,JPH1,NA,synonymous SNV,"JPH1:NM_001317830:exon2:c.G858A:p.K286K,JPH1:NM_001363050:exon2:c.G858A:p.K286K,JPH1:NM_001363051:exon2:c.G858A:p.K286K,JPH1:NM_020647:exon2:c.G858A:p.K286K",NA,NA,NA,NA,NA,NA
chr8,75263688,75263688,G,A,R007_S,GDAP1,Silent,NM_001040875,exon2,c.G93A,p.Q31Q,SNP,SNVindel,exonic,GDAP1,NA,synonymous SNV,"GDAP1:NM_001040875:exon2:c.G93A:p.Q31Q,GDAP1:NM_001362930:exon2:c.G297A:p.Q99Q,GDAP1:NM_001362931:exon2:c.G297A:p.Q99Q,GDAP1:NM_018972:exon2:c.G297A:p.Q99Q",NA,NA,NA,NA,NA,NA
chr8,75737690,75737690,C,T,R007_S,PI15,Missense_Mutation,NM_001324403,exon2,c.C206T,p.A69V,SNP,SNVindel,exonic,PI15,NA,nonsynonymous SNV,"PI15:NM_001324403:exon2:c.C206T:p.A69V,PI15:NM_015886:exon2:c.C206T:p.A69V",T,D,D,T,N,T
chr8,77616758,77616758,C,T,R007_S,ZFHX4,Silent,NM_024721,exon2,c.C435T,p.S145S,SNP,SNVindel,exonic,ZFHX4,NA,synonymous SNV,ZFHX4:NM_024721:exon2:c.C435T:p.S145S,NA,NA,NA,NA,NA,NA
chr8,86121581,86121581,G,A,R007_S,E2F5,Missense_Mutation,NM_001083588,exon6,c.G820A,p.E274K,SNP,SNVindel,exonic,E2F5,NA,nonsynonymous SNV,"E2F5:NM_001083588:exon6:c.G820A:p.E274K,E2F5:NM_001083589:exon6:c.G337A:p.E113K,E2F5:NM_001951:exon6:c.G820A:p.E274K",T,N,D,D,N,T
chr8,90937296,90937296,G,A,R007_S,OSGIN2,Missense_Mutation,NM_001126111,exon6,c.G1186A,p.E396K,SNP,SNVindel,exonic,OSGIN2,NA,nonsynonymous SNV,"OSGIN2:NM_001126111:exon6:c.G1186A:p.E396K,OSGIN2:NM_004337:exon6:c.G1054A:p.E352K",D,D,D,T,D,T
chr8,94745993,94745993,G,A,R007_S,RBM12B,Silent,NM_203390,exon3,c.C2646T,p.H882H,SNP,SNVindel,exonic,RBM12B,NA,synonymous SNV,RBM12B:NM_203390:exon3:c.C2646T:p.H882H,NA,NA,NA,NA,NA,NA
chr8,95265322,95265322,G,A,R007_S,GEM,Missense_Mutation,NM_005261,exon3,c.C350T,p.T117I,SNP,SNVindel,exonic,GEM,NA,nonsynonymous SNV,"GEM:NM_005261:exon3:c.C350T:p.T117I,GEM:NM_181702:exon3:c.C350T:p.T117I",D,D,D,T,D,T
chr8,95272691,95272691,C,T,R007_S,GEM,Missense_Mutation,NM_005261,exon2,c.G41A,p.G14D,SNP,SNVindel,exonic,GEM,NA,nonsynonymous SNV,"GEM:NM_005261:exon2:c.G41A:p.G14D,GEM:NM_181702:exon2:c.G41A:p.G14D",T,N,N,T,N,T
chr8,95444769,95444769,G,A,R007_S,FSBP,Missense_Mutation,NM_001256141,exon2,c.C490T,p.P164S,SNP,SNVindel,exonic,FSBP,NA,nonsynonymous SNV,FSBP:NM_001256141:exon2:c.C490T:p.P164S,D,D,D,T,D,T
chr8,95751970,95751970,G,A,R007_S,DPY19L4,Missense_Mutation,NM_181787,exon6,c.G563A,p.G188E,SNP,SNVindel,exonic,DPY19L4,NA,nonsynonymous SNV,DPY19L4:NM_181787:exon6:c.G563A:p.G188E,D,D,D,T,D,T
chr8,97172786,97172786,G,A,R007_S,GDF6,Silent,NM_001001557,exon1,c.C135T,p.S45S,SNP,SNVindel,exonic,GDF6,NA,synonymous SNV,GDF6:NM_001001557:exon1:c.C135T:p.S45S,NA,NA,NA,NA,NA,NA
chr8,97244014,97244014,G,A,R007_S,UQCRB,Silent,NM_001254752,exon3,c.C246T,p.T82T,SNP,SNVindel,exonic,UQCRB,NA,synonymous SNV,"UQCRB:NM_001254752:exon3:c.C246T:p.T82T,UQCRB:NM_006294:exon3:c.C246T:p.T82T,UQCRB:NM_001199975:exon4:c.C150T:p.T50T",NA,NA,NA,NA,NA,NA
chr8,97263323,97263323,C,T,R007_S,MTERF3,Missense_Mutation,NM_001286643,exon4,c.G488A,p.G163D,SNP,SNVindel,exonic,MTERF3,NA,nonsynonymous SNV,"MTERF3:NM_001286643:exon4:c.G488A:p.G163D,MTERF3:NM_015942:exon4:c.G488A:p.G163D",D,D,D,T,D,T
chr8,98943279,98943279,G,A,R007_S,MATN2,Missense_Mutation,NM_001317748,exon3,c.G241A,p.V81M,SNP,SNVindel,exonic,MATN2,NA,nonsynonymous SNV,"MATN2:NM_001317748:exon3:c.G241A:p.V81M,MATN2:NM_002380:exon3:c.G241A:p.V81M,MATN2:NM_030583:exon3:c.G241A:p.V81M",T,N,D,D,N,T
chr8,99440726,99440726,G,A,R007_S,KCNS2,Silent,NM_020697,exon2,c.G519A,p.L173L,SNP,SNVindel,exonic,KCNS2,NA,synonymous SNV,KCNS2:NM_020697:exon2:c.G519A:p.L173L,NA,NA,NA,NA,NA,NA
chr8,99718774,99718774,G,A,R007_S,STK3,Missense_Mutation,NM_006281,exon6,c.C605T,p.A202V,SNP,SNVindel,exonic,STK3,NA,nonsynonymous SNV,"STK3:NM_006281:exon6:c.C605T:p.A202V,STK3:NM_001256312:exon8:c.C689T:p.A230V",D,D,D,T,D,T
chr8,101018287,101018287,C,A,R007_S,RGS22,Missense_Mutation,NM_001286693,exon14,c.G1869T,p.K623N,SNP,SNVindel,exonic,RGS22,NA,nonsynonymous SNV,"RGS22:NM_001286693:exon14:c.G1869T:p.K623N,RGS22:NM_001286692:exon16:c.G2376T:p.K792N,RGS22:NM_015668:exon16:c.G2412T:p.K804N",T,D,N,T,N,T
chr8,101541972,101541972,C,T,R007_S,ANKRD46,Silent,NM_001270377,exon3,c.G90A,p.R30R,SNP,SNVindel,exonic,ANKRD46,NA,synonymous SNV,"ANKRD46:NM_001270377:exon3:c.G90A:p.R30R,ANKRD46:NM_001270378:exon3:c.G90A:p.R30R,ANKRD46:NM_001270379:exon3:c.G90A:p.R30R,ANKRD46:NM_198401:exon4:c.G90A:p.R30R",NA,NA,NA,NA,NA,NA
chr8,101721835,101721835,G,A,R007_S,PABPC1,Missense_Mutation,NM_002568,exon8,c.C1097T,p.A366V,SNP,SNVindel,exonic,PABPC1,NA,nonsynonymous SNV,PABPC1:NM_002568:exon8:c.C1097T:p.A366V,D,D,D,T,D,T
chr8,102589723,102589723,G,A,R007_S,GRHL2,Missense_Mutation,NM_001330593,exon7,c.G931A,p.A311T,SNP,SNVindel,exonic,GRHL2,NA,nonsynonymous SNV,"GRHL2:NM_001330593:exon7:c.G931A:p.A311T,GRHL2:NM_024915:exon7:c.G979A:p.A327T",D,D,D,T,D,T
chr8,103277436,103277436,C,T,R007_S,UBR5,Missense_Mutation,NM_001282873,exon53,c.G7490A,p.G2497D,SNP,SNVindel,exonic,UBR5,NA,nonsynonymous SNV,"UBR5:NM_001282873:exon53:c.G7490A:p.G2497D,UBR5:NM_015902:exon53:c.G7493A:p.G2498D",T,D,D,T,N,T
chr8,103663624,103663624,G,A,R007_S,KLF10,Silent,NM_001032282,exon3,c.C903T,p.V301V,SNP,SNVindel,exonic,KLF10,NA,synonymous SNV,"KLF10:NM_001032282:exon3:c.C903T:p.V301V,KLF10:NM_005655:exon3:c.C936T:p.V312V",NA,NA,NA,NA,NA,NA
chr8,103663993,103663993,G,A,R007_S,KLF10,Silent,NM_001032282,exon3,c.C534T,p.T178T,SNP,SNVindel,exonic,KLF10,NA,synonymous SNV,"KLF10:NM_001032282:exon3:c.C534T:p.T178T,KLF10:NM_005655:exon3:c.C567T:p.T189T",NA,NA,NA,NA,NA,NA
chr8,104337672,104337672,G,A,R007_S,FZD6,Silent,NM_001317796,exon3,c.G423A,p.E141E,SNP,SNVindel,exonic,FZD6,NA,synonymous SNV,"FZD6:NM_001317796:exon3:c.G423A:p.E141E,FZD6:NM_001164615:exon4:c.G1338A:p.E446E,FZD6:NM_003506:exon4:c.G1338A:p.E446E,FZD6:NM_001164616:exon5:c.G1242A:p.E414E",NA,NA,NA,NA,NA,NA
chr8,105263296,105263296,G,A,R007_S,RIMS2,Missense_Mutation,NM_001282882,exon5,c.G544A,p.A182T,SNP,SNVindel,exonic,RIMS2,NA,nonsynonymous SNV,"RIMS2:NM_001282882:exon5:c.G544A:p.A182T,RIMS2:NM_001348502:exon19:c.G2932A:p.A978T,RIMS2:NM_001282881:exon20:c.G3253A:p.A1085T,RIMS2:NM_001348500:exon20:c.G2998A:p.A1000T,RIMS2:NM_001348506:exon20:c.G3112A:p.A1038T,RIMS2:NM_001348485:exon21:c.G3508A:p.A1170T,RIMS2:NM_001348504:exon21:c.G3013A:p.A1005T,RIMS2:NM_001348505:exon21:c.G3319A:p.A1107T,RIMS2:NM_001348507:exon21:c.G3160A:p.A1054T,RIMS2:NM_001348508:exon21:c.G3145A:p.A1049T,RIMS2:NM_014677:exon21:c.G3178A:p.A1060T,RIMS2:NM_001348493:exon22:c.G3688A:p.A1230T,RIMS2:NM_001348497:exon22:c.G3682A:p.A1228T,RIMS2:NM_001100117:exon23:c.G3736A:p.A1246T,RIMS2:NM_001348494:exon23:c.G3895A:p.A1299T,RIMS2:NM_001348496:exon23:c.G3700A:p.A1234T,RIMS2:NM_001348499:exon23:c.G3244A:p.A1082T,RIMS2:NM_001348486:exon24:c.G3907A:p.A1303T,RIMS2:NM_001348487:exon24:c.G3766A:p.A1256T,RIMS2:NM_001348491:exon24:c.G3949A:p.A1317T,RIMS2:NM_001348492:exon24:c.G3733A:p.A1245T,RIMS2:NM_001348495:exon24:c.G3763A:p.A1255T,RIMS2:NM_001348498:exon24:c.G3661A:p.A1221T,RIMS2:NM_001348501:exon24:c.G3514A:p.A1172T,RIMS2:NM_001348503:exon24:c.G3661A:p.A1221T,RIMS2:NM_001348488:exon25:c.G3820A:p.A1274T,RIMS2:NM_001348509:exon26:c.G3757A:p.A1253T,RIMS2:NM_001348490:exon27:c.G4249A:p.A1417T,RIMS2:NM_001348489:exon28:c.G4336A:p.A1446T,RIMS2:NM_001348484:exon29:c.G4510A:p.A1504T",D,.,D,T,D,T
chr8,105361604,105361604,G,A,R007_S,DCSTAMP,Missense_Mutation,NM_001257317,exon2,c.G824A,p.R275K,SNP,SNVindel,exonic,DCSTAMP,NA,nonsynonymous SNV,"DCSTAMP:NM_001257317:exon2:c.G824A:p.R275K,DCSTAMP:NM_030788:exon2:c.G824A:p.R275K",T,N,N,T,N,T
chr8,110099983,110099983,C,T,R007_S,TRHR,Missense_Mutation,NM_003301,exon2,c.C242T,p.P81L,SNP,SNVindel,exonic,TRHR,NA,nonsynonymous SNV,TRHR:NM_003301:exon2:c.C242T:p.P81L,D,D,D,T,D,T
chr8,110457521,110457521,G,A,R007_S,PKHD1L1,Missense_Mutation,NM_177531,exon38,c.G5423A,p.G1808E,SNP,SNVindel,exonic,PKHD1L1,NA,nonsynonymous SNV,PKHD1L1:NM_177531:exon38:c.G5423A:p.G1808E,D,D,D,T,D,D
chr8,110476816,110476816,G,A,R007_S,PKHD1L1,Nonsense_Mutation,NM_177531,exon49,c.G7755A,p.W2585X,SNP,SNVindel,exonic,PKHD1L1,NA,stopgain,PKHD1L1:NM_177531:exon49:c.G7755A:p.W2585X,.,D,A,.,.,.
chr8,110986475,110986475,C,T,R007_S,KCNV1,Missense_Mutation,NM_014379,exon2,c.G143A,p.S48N,SNP,SNVindel,exonic,KCNV1,NA,nonsynonymous SNV,KCNV1:NM_014379:exon2:c.G143A:p.S48N,D,D,D,T,N,T
chr8,116427162,116427162,G,A,R007_S,TRPS1,Missense_Mutation,NM_001282902,exon6,c.C2947T,p.P983S,SNP,SNVindel,exonic,TRPS1,NA,nonsynonymous SNV,"TRPS1:NM_001282902:exon6:c.C2947T:p.P983S,TRPS1:NM_001330599:exon6:c.C2935T:p.P979S,TRPS1:NM_001282903:exon7:c.C2953T:p.P985S,TRPS1:NM_014112:exon7:c.C2974T:p.P992S",D,D,D,D,N,D
chr8,118533134,118533134,G,A,R007_S,MED30,Missense_Mutation,NM_001282986,exon1,c.G19A,p.A7T,SNP,SNVindel,exonic,MED30,NA,nonsynonymous SNV,"MED30:NM_001282986:exon1:c.G19A:p.A7T,MED30:NM_001363182:exon1:c.G19A:p.A7T,MED30:NM_080651:exon1:c.G19A:p.A7T",D,D,D,.,N,T
chr8,119122949,119122949,C,T,R007_S,EXT1,Missense_Mutation,NM_000127,exon1,c.G337A,p.G113S,SNP,SNVindel,exonic,EXT1,NA,nonsynonymous SNV,EXT1:NM_000127:exon1:c.G337A:p.G113S,T,D,D,D,D,D
chr8,120252519,120252519,C,T,R007_S,MAL2,Missense_Mutation,NM_052886,exon4,c.C418T,p.L140F,SNP,SNVindel,exonic,MAL2,NA,nonsynonymous SNV,MAL2:NM_052886:exon4:c.C418T:p.L140F,.,.,.,.,.,.
chr8,124117661,124117661,G,A,R007_S,TBC1D31,Missense_Mutation,NM_001330606,exon7,c.G851A,p.R284K,SNP,SNVindel,exonic,TBC1D31,NA,nonsynonymous SNV,"TBC1D31:NM_001330606:exon7:c.G851A:p.R284K,TBC1D31:NM_001363152:exon7:c.G851A:p.R284K,TBC1D31:NM_001363154:exon7:c.G851A:p.R284K,TBC1D31:NM_001363155:exon7:c.G851A:p.R284K,TBC1D31:NM_001145088:exon8:c.G1166A:p.R389K,TBC1D31:NM_001363148:exon8:c.G1166A:p.R389K,TBC1D31:NM_001363149:exon8:c.G1136A:p.R379K,TBC1D31:NM_001363150:exon8:c.G1166A:p.R389K,TBC1D31:NM_001363151:exon8:c.G1166A:p.R389K,TBC1D31:NM_001363153:exon8:c.G1166A:p.R389K,TBC1D31:NM_145647:exon8:c.G1166A:p.R389K",T,D,N,T,N,T
chr8,124195471,124195471,G,A,R007_S,FAM83A,Silent,NM_001288587,exon1,c.G375A,p.E125E,SNP,SNVindel,exonic,FAM83A,NA,synonymous SNV,"FAM83A:NM_001288587:exon1:c.G375A:p.E125E,FAM83A:NM_001321630:exon1:c.G375A:p.E125E,FAM83A:NM_032899:exon2:c.G375A:p.E125E,FAM83A:NM_207006:exon2:c.G375A:p.E125E",NA,NA,NA,NA,NA,NA
chr8,124266676,124266676,G,A,R007_S,ZHX1,Missense_Mutation,NM_001017926,exon3,c.C1511T,p.T504M,SNP,SNVindel,exonic,ZHX1,NA,nonsynonymous SNV,"ZHX1:NM_001017926:exon3:c.C1511T:p.T504M,ZHX1:NM_007222:exon3:c.C1511T:p.T504M",D,D,D,D,D,D
chr8,124266856,124266856,G,A,R007_S,ZHX1,Missense_Mutation,NM_001017926,exon3,c.C1331T,p.T444I,SNP,SNVindel,exonic,ZHX1,NA,nonsynonymous SNV,"ZHX1:NM_001017926:exon3:c.C1331T:p.T444I,ZHX1:NM_007222:exon3:c.C1331T:p.T444I",T,N,N,T,N,T
chr8,124371918,124371918,G,A,R007_S,ATAD2,Missense_Mutation,NM_014109,exon10,c.C1165T,p.P389S,SNP,SNVindel,exonic,ATAD2,NA,nonsynonymous SNV,ATAD2:NM_014109:exon10:c.C1165T:p.P389S,D,N,D,D,D,D
chr8,124518706,124518706,G,A,R007_S,FBXO32,Missense_Mutation,NM_148177,exon4,c.C325T,p.P109S,SNP,SNVindel,exonic,FBXO32,NA,nonsynonymous SNV,"FBXO32:NM_148177:exon4:c.C325T:p.P109S,FBXO32:NM_001242463:exon5:c.C481T:p.P161S,FBXO32:NM_058229:exon7:c.C760T:p.P254S",T,D,D,T,N,T
chr8,124701161,124701161,G,A,R007_S,ANXA13,Missense_Mutation,NM_004306,exon9,c.C668T,p.A223V,SNP,SNVindel,exonic,ANXA13,NA,nonsynonymous SNV,"ANXA13:NM_004306:exon9:c.C668T:p.A223V,ANXA13:NM_001003954:exon10:c.C791T:p.A264V",D,N,N,T,D,T
chr8,124982336,124982336,C,T,R007_S,FER1L6,Missense_Mutation,NM_001039112,exon6,c.C446T,p.S149F,SNP,SNVindel,exonic,FER1L6,NA,nonsynonymous SNV,FER1L6:NM_001039112:exon6:c.C446T:p.S149F,D,U,D,T,D,D
chr8,125035791,125035791,G,A,R007_S,FER1L6,Silent,NM_001039112,exon18,c.G2241A,p.G747G,SNP,SNVindel,exonic,FER1L6,NA,synonymous SNV,FER1L6:NM_001039112:exon18:c.G2241A:p.G747G,NA,NA,NA,NA,NA,NA
chr8,125078761,125078761,G,A,R007_S,FER1L6,Silent,NM_001039112,exon27,c.G3648A,p.K1216K,SNP,SNVindel,exonic,FER1L6,NA,synonymous SNV,FER1L6:NM_001039112:exon27:c.G3648A:p.K1216K,NA,NA,NA,NA,NA,NA
chr8,125740194,125740194,C,T,R007_S,MTSS1,Translation_Start_Site,NM_001282971,exon1,c.G3A,p.M1?,SNP,SNVindel,exonic,MTSS1,NA,startloss,"MTSS1:NM_001282971:exon1:c.G3A:p.M1?,MTSS1:NM_001282974:exon1:c.G3A:p.M1?,MTSS1:NM_001363294:exon1:c.G3A:p.M1?,MTSS1:NM_001363295:exon1:c.G3A:p.M1?,MTSS1:NM_001363296:exon1:c.G3A:p.M1?,MTSS1:NM_001363297:exon1:c.G3A:p.M1?,MTSS1:NM_001363298:exon1:c.G3A:p.M1?,MTSS1:NM_001363299:exon1:c.G3A:p.M1?,MTSS1:NM_001363300:exon1:c.G3A:p.M1?,MTSS1:NM_001363301:exon1:c.G3A:p.M1?,MTSS1:NM_001363302:exon1:c.G3A:p.M1?,MTSS1:NM_014751:exon1:c.G3A:p.M1?",D,N,D,T,N,T
chr8,125988969,125988969,C,T,R007_S,ZNF572,Silent,NM_152412,exon3,c.C459T,p.T153T,SNP,SNVindel,exonic,ZNF572,NA,synonymous SNV,ZNF572:NM_152412:exon3:c.C459T:p.T153T,NA,NA,NA,NA,NA,NA
chr8,128751008,128751008,G,A,R007_S,MYC,Missense_Mutation,NM_001354870,exon2,c.G542A,p.G181D,SNP,SNVindel,exonic,MYC,NA,nonsynonymous SNV,"MYC:NM_001354870:exon2:c.G542A:p.G181D,MYC:NM_002467:exon2:c.G545A:p.G182D",T,N,D,T,N,T
chr8,130867919,130867919,G,A,R007_S,FAM49B,Nonsense_Mutation,NM_001353266,exon5,c.C376T,p.Q126X,SNP,SNVindel,exonic,FAM49B,NA,stopgain,"FAM49B:NM_001353266:exon5:c.C376T:p.Q126X,FAM49B:NM_001353252:exon6:c.C376T:p.Q126X,FAM49B:NM_001353257:exon6:c.C376T:p.Q126X,FAM49B:NM_001353263:exon6:c.C376T:p.Q126X,FAM49B:NM_001353305:exon6:c.C376T:p.Q126X,FAM49B:NM_001353313:exon6:c.C376T:p.Q126X,FAM49B:NM_016623:exon6:c.C376T:p.Q126X,FAM49B:NM_001256763:exon7:c.C376T:p.Q126X,FAM49B:NM_001353246:exon7:c.C376T:p.Q126X,FAM49B:NM_001353249:exon7:c.C376T:p.Q126X,FAM49B:NM_001353260:exon7:c.C376T:p.Q126X,FAM49B:NM_001353262:exon7:c.C376T:p.Q126X,FAM49B:NM_001353265:exon7:c.C376T:p.Q126X,FAM49B:NM_001353267:exon7:c.C376T:p.Q126X,FAM49B:NM_001353303:exon7:c.C376T:p.Q126X,FAM49B:NM_001353304:exon7:c.C376T:p.Q126X,FAM49B:NM_001353306:exon7:c.C376T:p.Q126X,FAM49B:NM_001353308:exon7:c.C376T:p.Q126X,FAM49B:NM_001353310:exon7:c.C376T:p.Q126X,FAM49B:NM_001353314:exon7:c.C376T:p.Q126X,FAM49B:NM_001353316:exon7:c.C352T:p.Q118X,FAM49B:NM_001353243:exon8:c.C376T:p.Q126X,FAM49B:NM_001353245:exon8:c.C376T:p.Q126X,FAM49B:NM_001353248:exon8:c.C376T:p.Q126X,FAM49B:NM_001353250:exon8:c.C376T:p.Q126X,FAM49B:NM_001353253:exon8:c.C376T:p.Q126X,FAM49B:NM_001353256:exon8:c.C376T:p.Q126X,FAM49B:NM_001353258:exon8:c.C376T:p.Q126X,FAM49B:NM_001353264:exon8:c.C376T:p.Q126X,FAM49B:NM_001353268:exon8:c.C376T:p.Q126X,FAM49B:NM_001353302:exon8:c.C376T:p.Q126X,FAM49B:NM_001353307:exon8:c.C376T:p.Q126X,FAM49B:NM_001353311:exon8:c.C376T:p.Q126X,FAM49B:NM_001353315:exon8:c.C376T:p.Q126X,FAM49B:NM_001353242:exon9:c.C376T:p.Q126X,FAM49B:NM_001353244:exon9:c.C376T:p.Q126X,FAM49B:NM_001353247:exon9:c.C376T:p.Q126X,FAM49B:NM_001353254:exon9:c.C376T:p.Q126X,FAM49B:NM_001353255:exon9:c.C376T:p.Q126X,FAM49B:NM_001353259:exon9:c.C376T:p.Q126X,FAM49B:NM_001353261:exon9:c.C376T:p.Q126X,FAM49B:NM_001353309:exon9:c.C376T:p.Q126X,FAM49B:NM_001353312:exon9:c.C376T:p.Q126X,FAM49B:NM_001353251:exon10:c.C376T:p.Q126X",.,D,A,.,.,.
chr8,131130778,131130778,G,A,R007_S,ASAP1,Missense_Mutation,NM_001362926,exon19,c.C1751T,p.A584V,SNP,SNVindel,exonic,ASAP1,NA,nonsynonymous SNV,"ASAP1:NM_001362926:exon19:c.C1751T:p.A584V,ASAP1:NM_018482:exon19:c.C1751T:p.A584V,ASAP1:NM_001247996:exon20:c.C1730T:p.A577V,ASAP1:NM_001362924:exon20:c.C1760T:p.A587V,ASAP1:NM_001362925:exon20:c.C1760T:p.A587V",T,D,D,T,D,T
chr8,131949343,131949343,C,T,R007_S,ADCY8,Missense_Mutation,NM_001115,exon5,c.G1457A,p.G486D,SNP,SNVindel,exonic,ADCY8,NA,nonsynonymous SNV,ADCY8:NM_001115:exon5:c.G1457A:p.G486D,D,D,D,D,D,D
chr8,133107983,133107983,C,T,R007_S,HHLA1,Missense_Mutation,NM_001145095,exon5,c.G331A,p.A111T,SNP,SNVindel,exonic,HHLA1,NA,nonsynonymous SNV,HHLA1:NM_001145095:exon5:c.G331A:p.A111T,D,.,D,.,N,T
chr8,133141928,133141928,G,A,R007_S,KCNQ3,Missense_Mutation,NM_001204824,exon15,c.C1840T,p.P614S,SNP,SNVindel,exonic,KCNQ3,NA,nonsynonymous SNV,"KCNQ3:NM_001204824:exon15:c.C1840T:p.P614S,KCNQ3:NM_004519:exon15:c.C2200T:p.P734S",T,N,N,D,N,D
chr8,133645107,133645107,G,A,R007_S,LRRC6,Missense_Mutation,NM_001321962,exon3,c.C286T,p.L96F,SNP,SNVindel,exonic,LRRC6,NA,nonsynonymous SNV,"LRRC6:NM_001321962:exon3:c.C286T:p.L96F,LRRC6:NM_001321961:exon5:c.C532T:p.L178F,LRRC6:NM_001321963:exon5:c.C172T:p.L58F,LRRC6:NM_001321964:exon5:c.C172T:p.L58F,LRRC6:NM_001321966:exon5:c.C172T:p.L58F,LRRC6:NM_012472:exon5:c.C532T:p.L178F,LRRC6:NM_001321965:exon6:c.C172T:p.L58F",T,N,N,T,N,T
chr8,133650229,133650229,G,A,R007_S,LRRC6,Silent,NM_001321962,exon2,c.C135T,p.S45S,SNP,SNVindel,exonic,LRRC6,NA,synonymous SNV,"LRRC6:NM_001321962:exon2:c.C135T:p.S45S,LRRC6:NM_001321961:exon4:c.C381T:p.S127S,LRRC6:NM_001321963:exon4:c.C21T:p.S7S,LRRC6:NM_001321964:exon4:c.C21T:p.S7S,LRRC6:NM_001321966:exon4:c.C21T:p.S7S,LRRC6:NM_012472:exon4:c.C381T:p.S127S,LRRC6:NM_001321965:exon5:c.C21T:p.S7S",NA,NA,NA,NA,NA,NA
chr8,133898768,133898768,G,A,R007_S,TG,Missense_Mutation,NM_003235,exon9,c.G1151A,p.S384N,SNP,SNVindel,exonic,TG,NA,nonsynonymous SNV,TG:NM_003235:exon9:c.G1151A:p.S384N,D,N,N,T,N,T
chr8,134042077,134042077,G,A,R007_S,TG,Missense_Mutation,NM_003235,exon41,c.G7048A,p.V2350M,SNP,SNVindel,exonic,TG,NA,nonsynonymous SNV,TG:NM_003235:exon41:c.G7048A:p.V2350M,D,N,N,T,N,T
chr8,134232933,134232933,C,T,R007_S,CCN4,Silent,NM_003882,exon3,c.C459T,p.C153C,SNP,SNVindel,exonic,CCN4,NA,synonymous SNV,CCN4:NM_003882:exon3:c.C459T:p.C153C,NA,NA,NA,NA,NA,NA
chr8,134271464,134271464,G,A,R007_S,NDRG1,Silent,NM_001258432,exon4,c.C138T,p.Y46Y,SNP,SNVindel,exonic,NDRG1,NA,synonymous SNV,"NDRG1:NM_001258432:exon4:c.C138T:p.Y46Y,NDRG1:NM_001258433:exon5:c.C93T:p.Y31Y,NDRG1:NM_001135242:exon6:c.C336T:p.Y112Y,NDRG1:NM_006096:exon6:c.C336T:p.Y112Y",NA,NA,NA,NA,NA,NA
chr8,135490813,135490813,C,T,R007_S,ZFAT,Missense_Mutation,NM_001174158,exon14,c.G3350A,p.G1117E,SNP,SNVindel,exonic,ZFAT,NA,nonsynonymous SNV,"ZFAT:NM_001174158:exon14:c.G3350A:p.G1117E,ZFAT:NM_001174157:exon15:c.G3458A:p.G1153E,ZFAT:NM_001167583:exon16:c.G3608A:p.G1203E,ZFAT:NM_020863:exon16:c.G3644A:p.G1215E,ZFAT:NM_001029939:exon17:c.G3608A:p.G1203E,ZFAT:NM_001289394:exon17:c.G3608A:p.G1203E",D,D,D,T,N,T
chr8,136533547,136533547,G,A,R007_S,KHDRBS3,Silent,NM_006558,exon2,c.G156A,p.K52K,SNP,SNVindel,exonic,KHDRBS3,NA,synonymous SNV,KHDRBS3:NM_006558:exon2:c.G156A:p.K52K,NA,NA,NA,NA,NA,NA
chr8,136569763,136569763,G,A,R007_S,KHDRBS3,Missense_Mutation,NM_006558,exon5,c.G544A,p.D182N,SNP,SNVindel,exonic,KHDRBS3,NA,nonsynonymous SNV,KHDRBS3:NM_006558:exon5:c.G544A:p.D182N,T,D,D,T,N,T
chr8,139601559,139601559,G,A,R007_S,COL22A1,Silent,NM_152888,exon65,c.C4818T,p.D1606D,SNP,SNVindel,exonic,COL22A1,NA,synonymous SNV,COL22A1:NM_152888:exon65:c.C4818T:p.D1606D,NA,NA,NA,NA,NA,NA
chr8,141310676,141310676,G,A,R007_S,TRAPPC9,Missense_Mutation,NM_001321646,exon10,c.C1633T,p.P545S,SNP,SNVindel,exonic,TRAPPC9,NA,nonsynonymous SNV,"TRAPPC9:NM_001321646:exon10:c.C1633T:p.P545S,TRAPPC9:NM_001160372:exon11:c.C1660T:p.P554S,TRAPPC9:NM_031466:exon11:c.C1954T:p.P652S",D,D,D,.,D,T
chr8,141461254,141461254,G,A,R007_S,TRAPPC9,Silent,NM_001160372,exon2,c.C219T,p.T73T,SNP,SNVindel,exonic,TRAPPC9,NA,synonymous SNV,"TRAPPC9:NM_001160372:exon2:c.C219T:p.T73T,TRAPPC9:NM_001321646:exon2:c.C219T:p.T73T,TRAPPC9:NM_031466:exon2:c.C513T:p.T171T",NA,NA,NA,NA,NA,NA
chr8,141696733,141696733,G,A,R007_S,PTK2,Missense_Mutation,NM_001352749,exon6,c.C490T,p.P164S,SNP,SNVindel,exonic,PTK2,NA,nonsynonymous SNV,"PTK2:NM_001352749:exon6:c.C490T:p.P164S,PTK2:NM_001352750:exon6:c.C490T:p.P164S,PTK2:NM_001352728:exon25:c.C2452T:p.P818S,PTK2:NM_001352741:exon25:c.C2221T:p.P741S,PTK2:NM_001352745:exon25:c.C2134T:p.P712S,PTK2:NM_001352746:exon25:c.C2089T:p.P697S,PTK2:NM_001352694:exon26:c.C2560T:p.P854S,PTK2:NM_001352720:exon26:c.C2560T:p.P854S,PTK2:NM_001352742:exon26:c.C2197T:p.P733S,PTK2:NM_001352744:exon26:c.C2152T:p.P718S,PTK2:NM_001199649:exon27:c.C2560T:p.P854S,PTK2:NM_001316342:exon27:c.C2260T:p.P754S,PTK2:NM_001352713:exon27:c.C2581T:p.P861S,PTK2:NM_001352715:exon27:c.C2578T:p.P860S,PTK2:NM_001352718:exon27:c.C2560T:p.P854S,PTK2:NM_001352719:exon27:c.C2560T:p.P854S,PTK2:NM_001352733:exon27:c.C2323T:p.P775S,PTK2:NM_001352738:exon27:c.C2260T:p.P754S,PTK2:NM_001352739:exon27:c.C2242T:p.P748S,PTK2:NM_001352740:exon27:c.C2239T:p.P747S,PTK2:NM_005607:exon27:c.C2626T:p.P876S,PTK2:NM_153831:exon27:c.C2560T:p.P854S,PTK2:NM_001352696:exon28:c.C2260T:p.P754S,PTK2:NM_001352706:exon28:c.C2599T:p.P867S,PTK2:NM_001352711:exon28:c.C2596T:p.P866S,PTK2:NM_001352714:exon28:c.C2581T:p.P861S,PTK2:NM_001352717:exon28:c.C2578T:p.P860S,PTK2:NM_001352726:exon28:c.C2491T:p.P831S,PTK2:NM_001352730:exon28:c.C2344T:p.P782S,PTK2:NM_001352732:exon28:c.C2344T:p.P782S,PTK2:NM_001352735:exon28:c.C2281T:p.P761S,PTK2:NM_001352736:exon28:c.C2275T:p.P759S,PTK2:NM_001352737:exon28:c.C2323T:p.P775S,PTK2:NM_001352747:exon28:c.C1138T:p.P380S,PTK2:NM_001352700:exon29:c.C2683T:p.P895S,PTK2:NM_001352704:exon29:c.C2662T:p.P888S,PTK2:NM_001352705:exon29:c.C2638T:p.P880S,PTK2:NM_001352707:exon29:c.C2599T:p.P867S,PTK2:NM_001352708:exon29:c.C2599T:p.P867S,PTK2:NM_001352709:exon29:c.C2599T:p.P867S,PTK2:NM_001352710:exon29:c.C2599T:p.P867S,PTK2:NM_001352716:exon29:c.C2575T:p.P859S,PTK2:NM_001352724:exon29:c.C2599T:p.P867S,PTK2:NM_001352731:exon29:c.C2344T:p.P782S,PTK2:NM_001352698:exon30:c.C2722T:p.P908S,PTK2:NM_001352699:exon30:c.C2683T:p.P895S,PTK2:NM_001352701:exon30:c.C2683T:p.P895S,PTK2:NM_001352702:exon30:c.C2683T:p.P895S,PTK2:NM_001352703:exon30:c.C2683T:p.P895S,PTK2:NM_001352712:exon31:c.C2683T:p.P895S",T,D,D,T,D,T
chr8,141710992,141710992,G,A,R007_S,PTK2,Silent,NM_001352749,exon5,c.C427T,p.L143L,SNP,SNVindel,exonic,PTK2,NA,synonymous SNV,"PTK2:NM_001352749:exon5:c.C427T:p.L143L,PTK2:NM_001352750:exon5:c.C427T:p.L143L,PTK2:NM_001352751:exon5:c.C427T:p.L143L,PTK2:NM_001352752:exon5:c.C427T:p.L143L,PTK2:NM_001352728:exon24:c.C2389T:p.L797L,PTK2:NM_001352741:exon24:c.C2158T:p.L720L,PTK2:NM_001352745:exon24:c.C2071T:p.L691L,PTK2:NM_001352746:exon24:c.C2026T:p.L676L,PTK2:NM_001352694:exon25:c.C2497T:p.L833L,PTK2:NM_001352720:exon25:c.C2497T:p.L833L,PTK2:NM_001352742:exon25:c.C2134T:p.L712L,PTK2:NM_001352744:exon25:c.C2089T:p.L697L,PTK2:NM_001199649:exon26:c.C2497T:p.L833L,PTK2:NM_001316342:exon26:c.C2197T:p.L733L,PTK2:NM_001352713:exon26:c.C2518T:p.L840L,PTK2:NM_001352715:exon26:c.C2515T:p.L839L,PTK2:NM_001352718:exon26:c.C2497T:p.L833L,PTK2:NM_001352719:exon26:c.C2497T:p.L833L,PTK2:NM_001352729:exon26:c.C2428T:p.L810L,PTK2:NM_001352733:exon26:c.C2260T:p.L754L,PTK2:NM_001352738:exon26:c.C2197T:p.L733L,PTK2:NM_001352739:exon26:c.C2179T:p.L727L,PTK2:NM_001352740:exon26:c.C2176T:p.L726L,PTK2:NM_005607:exon26:c.C2563T:p.L855L,PTK2:NM_153831:exon26:c.C2497T:p.L833L,PTK2:NM_001352696:exon27:c.C2197T:p.L733L,PTK2:NM_001352706:exon27:c.C2536T:p.L846L,PTK2:NM_001352711:exon27:c.C2533T:p.L845L,PTK2:NM_001352714:exon27:c.C2518T:p.L840L,PTK2:NM_001352717:exon27:c.C2515T:p.L839L,PTK2:NM_001352721:exon27:c.C2536T:p.L846L,PTK2:NM_001352725:exon27:c.C2497T:p.L833L,PTK2:NM_001352726:exon27:c.C2428T:p.L810L,PTK2:NM_001352727:exon27:c.C2536T:p.L846L,PTK2:NM_001352730:exon27:c.C2281T:p.L761L,PTK2:NM_001352732:exon27:c.C2281T:p.L761L,PTK2:NM_001352734:exon27:c.C2281T:p.L761L,PTK2:NM_001352735:exon27:c.C2218T:p.L740L,PTK2:NM_001352736:exon27:c.C2212T:p.L738L,PTK2:NM_001352737:exon27:c.C2260T:p.L754L,PTK2:NM_001352743:exon27:c.C2197T:p.L733L,PTK2:NM_001352747:exon27:c.C1075T:p.L359L,PTK2:NM_001352695:exon28:c.C2599T:p.L867L,PTK2:NM_001352700:exon28:c.C2620T:p.L874L,PTK2:NM_001352704:exon28:c.C2599T:p.L867L,PTK2:NM_001352705:exon28:c.C2575T:p.L859L,PTK2:NM_001352707:exon28:c.C2536T:p.L846L,PTK2:NM_001352708:exon28:c.C2536T:p.L846L,PTK2:NM_001352709:exon28:c.C2536T:p.L846L,PTK2:NM_001352710:exon28:c.C2536T:p.L846L,PTK2:NM_001352716:exon28:c.C2512T:p.L838L,PTK2:NM_001352722:exon28:c.C2536T:p.L846L,PTK2:NM_001352723:exon28:c.C2536T:p.L846L,PTK2:NM_001352724:exon28:c.C2536T:p.L846L,PTK2:NM_001352731:exon28:c.C2281T:p.L761L,PTK2:NM_001352698:exon29:c.C2659T:p.L887L,PTK2:NM_001352699:exon29:c.C2620T:p.L874L,PTK2:NM_001352701:exon29:c.C2620T:p.L874L,PTK2:NM_001352702:exon29:c.C2620T:p.L874L,PTK2:NM_001352703:exon29:c.C2620T:p.L874L,PTK2:NM_001352712:exon30:c.C2620T:p.L874L,PTK2:NM_001352697:exon31:c.C2752T:p.L918L",NA,NA,NA,NA,NA,NA
chr8,142199108,142199108,G,A,R007_S,DENND3,Silent,NM_001352890,exon19,c.G3108A,p.Q1036Q,SNP,SNVindel,exonic,DENND3,NA,synonymous SNV,"DENND3:NM_001352890:exon19:c.G3108A:p.Q1036Q,DENND3:NM_001362798:exon19:c.G3108A:p.Q1036Q,DENND3:NM_014957:exon19:c.G2907A:p.Q969Q",NA,NA,NA,NA,NA,NA
chr8,142367342,142367342,G,A,R007_S,GPR20,Silent,NM_005293,exon2,c.C682T,p.L228L,SNP,SNVindel,exonic,GPR20,NA,synonymous SNV,GPR20:NM_005293:exon2:c.C682T:p.L228L,NA,NA,NA,NA,NA,NA
chr8,142432371,142432371,G,A,R007_S,PTP4A3,Missense_Mutation,NM_007079,exon1,c.G31A,p.E11K,SNP,SNVindel,exonic,PTP4A3,NA,nonsynonymous SNV,"PTP4A3:NM_007079:exon1:c.G31A:p.E11K,PTP4A3:NM_032611:exon2:c.G31A:p.E11K",T,D,D,D,D,D
chr8,143559558,143559558,G,A,R007_S,ADGRB1,Silent,NM_001702,exon7,c.G1398A,p.V466V,SNP,SNVindel,exonic,ADGRB1,NA,synonymous SNV,ADGRB1:NM_001702:exon7:c.G1398A:p.V466V,NA,NA,NA,NA,NA,NA
chr8,143605614,143605614,G,A,R007_S,ADGRB1,Silent,NM_001702,exon23,c.G3261A,p.L1087L,SNP,SNVindel,exonic,ADGRB1,NA,synonymous SNV,ADGRB1:NM_001702:exon23:c.G3261A:p.L1087L,NA,NA,NA,NA,NA,NA
chr8,144406712,144406712,G,A,R007_S,TOP1MT,Silent,NM_001258447,exon6,c.C465T,p.T155T,SNP,SNVindel,exonic,TOP1MT,NA,synonymous SNV,"TOP1MT:NM_001258447:exon6:c.C465T:p.T155T,TOP1MT:NM_052963:exon6:c.C759T:p.T253T,TOP1MT:NM_001258446:exon7:c.C465T:p.T155T",NA,NA,NA,NA,NA,NA
chr8,144461101,144461101,G,A,R007_S,RHPN1,Missense_Mutation,NM_052924,exon7,c.G604A,p.V202I,SNP,SNVindel,exonic,RHPN1,NA,nonsynonymous SNV,RHPN1:NM_052924:exon7:c.G604A:p.V202I,D,N,D,T,N,T
chr8,144522392,144522392,G,A,R007_S,ZC3H3,Silent,NM_015117,exon11,c.C2634T,p.S878S,SNP,SNVindel,exonic,ZC3H3,NA,synonymous SNV,ZC3H3:NM_015117:exon11:c.C2634T:p.S878S,NA,NA,NA,NA,NA,NA
chr8,144547934,144547934,C,T,R007_S,ZC3H3,Missense_Mutation,NM_015117,exon9,c.G2260A,p.E754K,SNP,SNVindel,exonic,ZC3H3,NA,nonsynonymous SNV,ZC3H3:NM_015117:exon9:c.G2260A:p.E754K,T,D,D,T,N,T
chr8,144657844,144657844,C,T,R007_S,NAPRT,Missense_Mutation,NM_001363146,exon8,c.G452A,p.G151D,SNP,SNVindel,exonic,NAPRT,NA,nonsynonymous SNV,"NAPRT:NM_001363146:exon8:c.G452A:p.G151D,NAPRT:NM_001286829:exon9:c.G1136A:p.G379D,NAPRT:NM_145201:exon9:c.G1136A:p.G379D",D,D,D,D,D,D
chr8,144662273,144662273,C,T,R007_S,EEF1D,Missense_Mutation,NM_001130056,exon6,c.G644A,p.G215D,SNP,SNVindel,exonic,EEF1D,NA,nonsynonymous SNV,"EEF1D:NM_001130056:exon6:c.G644A:p.G215D,EEF1D:NM_001317743:exon6:c.G644A:p.G215D,EEF1D:NM_001330646:exon6:c.G644A:p.G215D,EEF1D:NM_001130057:exon7:c.G716A:p.G239D,EEF1D:NM_001195203:exon7:c.G659A:p.G220D,EEF1D:NM_001289950:exon7:c.G716A:p.G239D,EEF1D:NM_001960:exon7:c.G716A:p.G239D,EEF1D:NM_001130055:exon8:c.G716A:p.G239D,EEF1D:NM_001130053:exon9:c.G1814A:p.G605D,EEF1D:NM_032378:exon9:c.G1814A:p.G605D",D,D,D,.,D,D
chr8,144775959,144775959,G,A,R007_S,ZNF707,Silent,NM_001288808,exon4,c.G267A,p.R89R,SNP,SNVindel,exonic,ZNF707,NA,synonymous SNV,"ZNF707:NM_001288808:exon4:c.G267A:p.R89R,ZNF707:NM_001288809:exon4:c.G267A:p.R89R,ZNF707:NM_001100599:exon5:c.G375A:p.R125R,ZNF707:NM_001100598:exon6:c.G375A:p.R125R,ZNF707:NM_001288806:exon6:c.G375A:p.R125R,ZNF707:NM_001288807:exon6:c.G156A:p.R52R,ZNF707:NM_173831:exon7:c.G375A:p.R125R,ZNF707:NM_001288805:exon8:c.G375A:p.R125R",T,.,N,T,N,T
chr8,144798598,144798598,G,A,R007_S,MAPK15,Silent,NM_139021,exon1,c.G51A,p.R17R,SNP,SNVindel,exonic,MAPK15,NA,synonymous SNV,MAPK15:NM_139021:exon1:c.G51A:p.R17R,NA,NA,NA,NA,NA,NA
chr8,144887302,144887302,G,A,R007_S,SCRIB,Missense_Mutation,NM_015356,exon19,c.C2650T,p.P884S,SNP,SNVindel,exonic,SCRIB,NA,nonsynonymous SNV,"SCRIB:NM_015356:exon19:c.C2650T:p.P884S,SCRIB:NM_182706:exon19:c.C2650T:p.P884S",D,.,D,T,D,T
chr8,144900431,144900431,C,T,R007_S,PUF60,Missense_Mutation,NM_001271097,exon5,c.G397A,p.V133I,SNP,SNVindel,exonic,PUF60,NA,nonsynonymous SNV,"PUF60:NM_001271097:exon5:c.G397A:p.V133I,PUF60:NM_001271096:exon6:c.G481A:p.V161I,PUF60:NM_001271099:exon6:c.G448A:p.V150I,PUF60:NM_001271100:exon6:c.G355A:p.V119I,PUF60:NM_014281:exon6:c.G484A:p.V162I,PUF60:NM_001136033:exon7:c.G406A:p.V136I,PUF60:NM_001271098:exon7:c.G532A:p.V178I,PUF60:NM_001362897:exon7:c.G595A:p.V199I,PUF60:NM_078480:exon7:c.G535A:p.V179I,PUF60:NM_001362895:exon8:c.G646A:p.V216I,PUF60:NM_001362896:exon8:c.G646A:p.V216I",T,D,D,T,N,T
chr8,144940505,144940505,G,A,R007_S,EPPK1,Missense_Mutation,NM_031308,exon2,c.C6917T,p.A2306V,SNP,SNVindel,exonic,EPPK1,NA,nonsynonymous SNV,EPPK1:NM_031308:exon2:c.C6917T:p.A2306V,.,.,D,.,.,T
chr8,144941346,144941346,G,A,R007_S,EPPK1,Missense_Mutation,NM_031308,exon2,c.C6076T,p.P2026S,SNP,SNVindel,exonic,EPPK1,NA,nonsynonymous SNV,EPPK1:NM_031308:exon2:c.C6076T:p.P2026S,.,.,D,.,.,T
chr8,144943820,144943820,C,T,R007_S,EPPK1,Missense_Mutation,NM_031308,exon2,c.G3602A,p.G1201D,SNP,SNVindel,exonic,EPPK1,NA,nonsynonymous SNV,EPPK1:NM_031308:exon2:c.G3602A:p.G1201D,.,.,N,.,.,T
chr8,144993054,144993054,G,A,R007_S,PLEC,Silent,NM_201378,exon32,c.C10893T,p.R3631R,SNP,SNVindel,exonic,PLEC,NA,synonymous SNV,"PLEC:NM_201378:exon32:c.C10893T:p.R3631R,PLEC:NM_201379:exon32:c.C10869T:p.R3623R,PLEC:NM_201380:exon32:c.C11346T:p.R3782R,PLEC:NM_201381:exon32:c.C10839T:p.R3613R,PLEC:NM_201382:exon32:c.C10935T:p.R3645R,PLEC:NM_201383:exon32:c.C10947T:p.R3649R,PLEC:NM_201384:exon32:c.C10935T:p.R3645R,PLEC:NM_000445:exon33:c.C11016T:p.R3672R",NA,NA,NA,NA,NA,NA
chr8,144994977,144994977,C,T,R007_S,PLEC,Silent,NM_201378,exon32,c.G8970A,p.E2990E,SNP,SNVindel,exonic,PLEC,NA,synonymous SNV,"PLEC:NM_201378:exon32:c.G8970A:p.E2990E,PLEC:NM_201379:exon32:c.G8946A:p.E2982E,PLEC:NM_201380:exon32:c.G9423A:p.E3141E,PLEC:NM_201381:exon32:c.G8916A:p.E2972E,PLEC:NM_201382:exon32:c.G9012A:p.E3004E,PLEC:NM_201383:exon32:c.G9024A:p.E3008E,PLEC:NM_201384:exon32:c.G9012A:p.E3004E,PLEC:NM_000445:exon33:c.G9093A:p.E3031E",NA,NA,NA,NA,NA,NA
chr8,144996389,144996389,G,A,R007_S,PLEC,Nonsense_Mutation,NM_201378,exon32,c.C7558T,p.Q2520X,SNP,SNVindel,exonic,PLEC,NA,stopgain,"PLEC:NM_201378:exon32:c.C7558T:p.Q2520X,PLEC:NM_201379:exon32:c.C7534T:p.Q2512X,PLEC:NM_201380:exon32:c.C8011T:p.Q2671X,PLEC:NM_201381:exon32:c.C7504T:p.Q2502X,PLEC:NM_201382:exon32:c.C7600T:p.Q2534X,PLEC:NM_201383:exon32:c.C7612T:p.Q2538X,PLEC:NM_201384:exon32:c.C7600T:p.Q2534X,PLEC:NM_000445:exon33:c.C7681T:p.Q2561X",.,U,D,.,.,.
chr8,144999828,144999828,C,T,R007_S,PLEC,Silent,NM_201378,exon31,c.G4227A,p.Q1409Q,SNP,SNVindel,exonic,PLEC,NA,synonymous SNV,"PLEC:NM_201378:exon31:c.G4227A:p.Q1409Q,PLEC:NM_201379:exon31:c.G4203A:p.Q1401Q,PLEC:NM_201380:exon31:c.G4680A:p.Q1560Q,PLEC:NM_201381:exon31:c.G4173A:p.Q1391Q,PLEC:NM_201382:exon31:c.G4269A:p.Q1423Q,PLEC:NM_201383:exon31:c.G4281A:p.Q1427Q,PLEC:NM_201384:exon31:c.G4269A:p.Q1423Q,PLEC:NM_000445:exon32:c.G4350A:p.Q1450Q",NA,NA,NA,NA,NA,NA
chr8,145024408,145024408,G,A,R007_S,PLEC,Missense_Mutation,NM_201380,exon1,c.C467T,p.P156L,SNP,SNVindel,exonic,PLEC,NA,nonsynonymous SNV,PLEC:NM_201380:exon1:c.C467T:p.P156L,D,U,D,T,N,T
chr8,145057704,145057704,G,A,R007_S,PARP10,Missense_Mutation,NM_001317895,exon7,c.C2089T,p.L697F,SNP,SNVindel,exonic,PARP10,NA,nonsynonymous SNV,"PARP10:NM_001317895:exon7:c.C2089T:p.L697F,PARP10:NM_032789:exon8:c.C2053T:p.L685F",D,N,N,T,N,T
chr8,145059301,145059301,G,A,R007_S,PARP10,Missense_Mutation,NM_001317895,exon4,c.C905T,p.A302V,SNP,SNVindel,exonic,PARP10,NA,nonsynonymous SNV,"PARP10:NM_001317895:exon4:c.C905T:p.A302V,PARP10:NM_032789:exon5:c.C869T:p.A290V",D,N,N,T,N,T
chr8,145108174,145108174,C,T,R007_S,OPLAH,Missense_Mutation,NM_017570,exon20,c.G2809A,p.V937M,SNP,SNVindel,exonic,OPLAH,NA,nonsynonymous SNV,OPLAH:NM_017570:exon20:c.G2809A:p.V937M,.,D,.,.,.,T
chr8,145109514,145109514,G,A,R007_S,OPLAH,Missense_Mutation,NM_017570,exon19,c.C2636T,p.A879V,SNP,SNVindel,exonic,OPLAH,NA,nonsynonymous SNV,OPLAH:NM_017570:exon19:c.C2636T:p.A879V,.,D,.,.,.,T
chr8,145109717,145109717,G,A,R007_S,OPLAH,Missense_Mutation,NM_017570,exon18,c.C2509T,p.P837S,SNP,SNVindel,exonic,OPLAH,NA,nonsynonymous SNV,OPLAH:NM_017570:exon18:c.C2509T:p.P837S,.,D,.,.,.,T
chr8,145112561,145112561,G,A,R007_S,OPLAH,Silent,NM_017570,exon10,c.C1212T,p.A404A,SNP,SNVindel,exonic,OPLAH,NA,synonymous SNV,OPLAH:NM_017570:exon10:c.C1212T:p.A404A,NA,NA,NA,NA,NA,NA
chr8,145113776,145113776,C,T,R007_S,OPLAH,Missense_Mutation,NM_017570,exon5,c.G487A,p.V163M,SNP,SNVindel,exonic,OPLAH,NA,nonsynonymous SNV,OPLAH:NM_017570:exon5:c.G487A:p.V163M,.,N,.,.,.,T
chr8,145166981,145166981,C,T,R007_S,WDR97,Silent,NM_001316309,exon13,c.C2829T,p.S943S,SNP,SNVindel,exonic,WDR97,NA,synonymous SNV,WDR97:NM_001316309:exon13:c.C2829T:p.S943S,NA,NA,NA,NA,NA,NA
chr8,145576992,145576992,G,A,R007_S,TMEM249,Missense_Mutation,NM_001252404,exon4,c.C629T,p.P210L,SNP,SNVindel,exonic,TMEM249,NA,nonsynonymous SNV,TMEM249:NM_001252404:exon4:c.C629T:p.P210L,D,.,N,.,N,T
chr8,145583792,145583792,C,T,R007_S,SLC52A2,Missense_Mutation,NM_001253815,exon3,c.C640T,p.L214F,SNP,SNVindel,exonic,SLC52A2,NA,nonsynonymous SNV,"SLC52A2:NM_001253815:exon3:c.C640T:p.L214F,SLC52A2:NM_001253816:exon3:c.C640T:p.L214F,SLC52A2:NM_001363118:exon3:c.C640T:p.L214F,SLC52A2:NM_001363120:exon3:c.C640T:p.L214F,SLC52A2:NM_001363121:exon3:c.C640T:p.L214F,SLC52A2:NM_001363122:exon3:c.C148T:p.L50F,SLC52A2:NM_024531:exon3:c.C640T:p.L214F",T,D,D,D,N,D
chr8,145625076,145625076,G,A,R007_S,CPSF1,Silent,NM_013291,exon12,c.C1144T,p.L382L,SNP,SNVindel,exonic,CPSF1,NA,synonymous SNV,CPSF1:NM_013291:exon12:c.C1144T:p.L382L,NA,NA,NA,NA,NA,NA
chr8,145654541,145654541,G,A,R007_S,TONSL,Silent,NM_013432,exon26,c.C4122T,p.F1374F,SNP,SNVindel,exonic,TONSL,NA,synonymous SNV,TONSL:NM_013432:exon26:c.C4122T:p.F1374F,NA,NA,NA,NA,NA,NA
chr8,145699778,145699778,G,A,R007_S,FOXH1,Missense_Mutation,NM_003923,exon3,c.C941T,p.A314V,SNP,SNVindel,exonic,FOXH1,NA,nonsynonymous SNV,FOXH1:NM_003923:exon3:c.C941T:p.A314V,D,N,N,D,N,T
chr8,145730867,145730867,C,T,R007_S,GPT,Missense_Mutation,NM_005309,exon5,c.C734T,p.P245L,SNP,SNVindel,exonic,GPT,NA,nonsynonymous SNV,GPT:NM_005309:exon5:c.C734T:p.P245L,D,D,D,T,D,D
chr8,145735328,145735328,C,T,R007_S,MFSD3,Silent,NM_138431,exon1,c.C612T,p.H204H,SNP,SNVindel,exonic,MFSD3,NA,synonymous SNV,MFSD3:NM_138431:exon1:c.C612T:p.H204H,NA,NA,NA,NA,NA,NA
chr8,145736820,145736820,G,A,R007_S,RECQL4,Silent,NM_004260,exon22,c.C3621T,p.A1207A,SNP,SNVindel,exonic,RECQL4,NA,synonymous SNV,RECQL4:NM_004260:exon22:c.C3621T:p.A1207A,NA,NA,NA,NA,NA,NA
chr8,145742476,145742476,G,A,R007_S,RECQL4,Silent,NM_004260,exon4,c.C312T,p.D104D,SNP,SNVindel,exonic,RECQL4,NA,synonymous SNV,RECQL4:NM_004260:exon4:c.C312T:p.D104D,NA,NA,NA,NA,NA,NA
chr8,145745203,145745203,C,T,R007_S,LRRC14,Missense_Mutation,NM_014665,exon2,c.C94T,p.P32S,SNP,SNVindel,exonic,LRRC14,NA,nonsynonymous SNV,"LRRC14:NM_014665:exon2:c.C94T:p.P32S,LRRC14:NM_001272036:exon3:c.C94T:p.P32S",D,N,D,T,D,T
chr8,146062797,146062797,C,T,R007_S,ZNF7,Missense_Mutation,NM_001349809,exon3,c.C215T,p.P72L,SNP,SNVindel,exonic,ZNF7,NA,nonsynonymous SNV,"ZNF7:NM_001349809:exon3:c.C215T:p.P72L,ZNF7:NM_001282795:exon4:c.C185T:p.P62L,ZNF7:NM_001282796:exon4:c.C152T:p.P51L,ZNF7:NM_001330623:exon4:c.C185T:p.P62L,ZNF7:NM_001349806:exon4:c.C203T:p.P68L,ZNF7:NM_001349807:exon4:c.C149T:p.P50L,ZNF7:NM_001349808:exon4:c.C200T:p.P67L,ZNF7:NM_003416:exon4:c.C152T:p.P51L",D,D,D,T,D,T
chr8,146067426,146067426,G,A,R007_S,ZNF7,Missense_Mutation,NM_001349805,exon3,c.G646A,p.G216R,SNP,SNVindel,exonic,ZNF7,NA,nonsynonymous SNV,"ZNF7:NM_001349805:exon3:c.G646A:p.G216R,ZNF7:NM_001282797:exon4:c.G646A:p.G216R,ZNF7:NM_001349809:exon4:c.G997A:p.G333R,ZNF7:NM_001282795:exon5:c.G967A:p.G323R,ZNF7:NM_001349806:exon5:c.G985A:p.G329R,ZNF7:NM_001349807:exon5:c.G931A:p.G311R,ZNF7:NM_001349808:exon5:c.G982A:p.G328R,ZNF7:NM_003416:exon5:c.G934A:p.G312R",D,D,D,T,D,T
chr9,328142,328142,C,T,R007_S,DOCK8,Missense_Mutation,NM_001190458,exon8,c.C811T,p.P271S,SNP,SNVindel,exonic,DOCK8,NA,nonsynonymous SNV,"DOCK8:NM_001190458:exon8:c.C811T:p.P271S,DOCK8:NM_001193536:exon8:c.C811T:p.P271S,DOCK8:NM_203447:exon9:c.C1015T:p.P339S",D,D,D,T,D,T
chr9,339067,339067,C,T,R007_S,DOCK8,Missense_Mutation,NM_001190458,exon12,c.C1280T,p.S427L,SNP,SNVindel,exonic,DOCK8,NA,nonsynonymous SNV,"DOCK8:NM_001190458:exon12:c.C1280T:p.S427L,DOCK8:NM_001193536:exon12:c.C1280T:p.S427L,DOCK8:NM_203447:exon13:c.C1484T:p.S495L",D,D,D,T,D,T
chr9,441287,441287,G,A,R007_S,DOCK8,Missense_Mutation,NM_001190458,exon39,c.G4925A,p.G1642E,SNP,SNVindel,exonic,DOCK8,NA,nonsynonymous SNV,"DOCK8:NM_001190458:exon39:c.G4925A:p.G1642E,DOCK8:NM_001193536:exon40:c.G5021A:p.G1674E,DOCK8:NM_203447:exon41:c.G5225A:p.G1742E",D,D,D,T,D,T
chr9,711878,711878,C,T,R007_S,KANK1,Missense_Mutation,NM_001354335,exon2,c.C638T,p.T213I,SNP,SNVindel,exonic,KANK1,NA,nonsynonymous SNV,"KANK1:NM_001354335:exon2:c.C638T:p.T213I,KANK1:NM_001354336:exon2:c.C638T:p.T213I,KANK1:NM_001354337:exon2:c.C638T:p.T213I,KANK1:NM_001354338:exon2:c.C638T:p.T213I,KANK1:NM_001354339:exon2:c.C638T:p.T213I,KANK1:NM_001354340:exon2:c.C638T:p.T213I,KANK1:NM_001354341:exon2:c.C638T:p.T213I,KANK1:NM_001354342:exon2:c.C638T:p.T213I,KANK1:NM_001354343:exon2:c.C638T:p.T213I,KANK1:NM_001354344:exon2:c.C638T:p.T213I,KANK1:NM_153186:exon2:c.C638T:p.T213I,KANK1:NM_001354331:exon3:c.C1112T:p.T371I,KANK1:NM_001354332:exon3:c.C1112T:p.T371I,KANK1:NM_001354333:exon3:c.C638T:p.T213I,KANK1:NM_015158:exon3:c.C1112T:p.T371I,KANK1:NM_001256877:exon4:c.C1112T:p.T371I,KANK1:NM_001354334:exon4:c.C1112T:p.T371I,KANK1:NM_001256876:exon7:c.C1112T:p.T371I",D,D,D,T,D,T
chr9,2718361,2718361,G,A,R007_S,KCNV2,Missense_Mutation,NM_133497,exon1,c.G622A,p.D208N,SNP,SNVindel,exonic,KCNV2,NA,nonsynonymous SNV,KCNV2:NM_133497:exon1:c.G622A:p.D208N,D,D,D,D,D,D
chr9,2838507,2838507,T,C,R007_S,PUM3,Translation_Start_Site,NM_014878,exon2,c.A1G,p.M1?,SNP,SNVindel,exonic,PUM3,NA,startloss,PUM3:NM_014878:exon2:c.A1G:p.M1?,T,D,D,D,N,T
chr9,5763702,5763702,C,T,R007_S,RIC1,Missense_Mutation,NM_001206557,exon18,c.C2564T,p.T855I,SNP,SNVindel,exonic,RIC1,NA,nonsynonymous SNV,"RIC1:NM_001206557:exon18:c.C2564T:p.T855I,RIC1:NM_001135920:exon19:c.C2675T:p.T892I,RIC1:NM_020829:exon19:c.C2675T:p.T892I",T,D,D,.,D,T
chr9,15724783,15724783,G,A,R007_S,CCDC171,Missense_Mutation,NM_001355547,exon13,c.G1525A,p.D509N,SNP,SNVindel,exonic,CCDC171,NA,nonsynonymous SNV,"CCDC171:NM_001355547:exon13:c.G1525A:p.D509N,CCDC171:NM_173550:exon14:c.G1501A:p.D501N,CCDC171:NM_001348002:exon15:c.G1246A:p.D416N",T,N,N,T,N,T
chr9,15744427,15744427,G,A,R007_S,CCDC171,Missense_Mutation,NM_001355547,exon16,c.G2230A,p.G744S,SNP,SNVindel,exonic,CCDC171,NA,nonsynonymous SNV,"CCDC171:NM_001355547:exon16:c.G2230A:p.G744S,CCDC171:NM_173550:exon17:c.G2206A:p.G736S,CCDC171:NM_001348002:exon18:c.G1951A:p.G651S",D,D,D,T,D,T
chr9,17793396,17793396,G,A,R007_S,SH3GL2,Missense_Mutation,NM_003026,exon8,c.G760A,p.E254K,SNP,SNVindel,exonic,SH3GL2,NA,nonsynonymous SNV,SH3GL2:NM_003026:exon8:c.G760A:p.E254K,T,D,D,T,D,T
chr9,23701509,23701509,G,A,R007_S,ELAVL2,Missense_Mutation,NM_001171195,exon5,c.C581T,p.A194V,SNP,SNVindel,exonic,ELAVL2,NA,nonsynonymous SNV,"ELAVL2:NM_001171195:exon5:c.C581T:p.A194V,ELAVL2:NM_001171197:exon5:c.C581T:p.A194V,ELAVL2:NM_001351467:exon5:c.C581T:p.A194V,ELAVL2:NM_001351468:exon5:c.C581T:p.A194V,ELAVL2:NM_001351469:exon5:c.C581T:p.A194V,ELAVL2:NM_001351470:exon5:c.C581T:p.A194V,ELAVL2:NM_001351471:exon5:c.C581T:p.A194V,ELAVL2:NM_001351472:exon5:c.C581T:p.A194V,ELAVL2:NM_001351473:exon5:c.C581T:p.A194V,ELAVL2:NM_001351474:exon5:c.C581T:p.A194V,ELAVL2:NM_001351475:exon5:c.C581T:p.A194V,ELAVL2:NM_001351476:exon5:c.C581T:p.A194V,ELAVL2:NM_001351477:exon5:c.C581T:p.A194V,ELAVL2:NM_001351478:exon5:c.C581T:p.A194V,ELAVL2:NM_004432:exon5:c.C581T:p.A194V,ELAVL2:NM_001351455:exon6:c.C668T:p.A223V,ELAVL2:NM_001351457:exon6:c.C668T:p.A223V,ELAVL2:NM_001351458:exon6:c.C668T:p.A223V,ELAVL2:NM_001351459:exon6:c.C668T:p.A223V,ELAVL2:NM_001351461:exon6:c.C665T:p.A222V,ELAVL2:NM_001351463:exon6:c.C665T:p.A222V,ELAVL2:NM_001351464:exon6:c.C668T:p.A223V,ELAVL2:NM_001351465:exon6:c.C668T:p.A223V,ELAVL2:NM_001351466:exon6:c.C623T:p.A208V,ELAVL2:NM_001351456:exon7:c.C668T:p.A223V,ELAVL2:NM_001351460:exon7:c.C665T:p.A222V,ELAVL2:NM_001351462:exon7:c.C665T:p.A222V",T,D,D,T,D,T
chr9,27047365,27047365,G,A,R007_S,IFT74,Missense_Mutation,NM_001099222,exon15,c.G1202A,p.S401N,SNP,SNVindel,exonic,IFT74,NA,nonsynonymous SNV,"IFT74:NM_001099222:exon15:c.G1202A:p.S401N,IFT74:NM_001099223:exon15:c.G1202A:p.S401N,IFT74:NM_001349928:exon15:c.G1202A:p.S401N,IFT74:NM_025103:exon15:c.G1202A:p.S401N",D,D,D,T,D,T
chr9,32418398,32418398,G,A,R007_S,ACO1,Missense_Mutation,NM_002197,exon6,c.G547A,p.E183K,SNP,SNVindel,exonic,ACO1,NA,nonsynonymous SNV,"ACO1:NM_002197:exon6:c.G547A:p.E183K,ACO1:NM_001278352:exon7:c.G547A:p.E183K,ACO1:NM_001362840:exon7:c.G547A:p.E183K",D,D,D,T,D,D
chr9,32631191,32631191,C,T,R007_S,TAF1L,Missense_Mutation,NM_153809,exon1,c.G4387A,p.E1463K,SNP,SNVindel,exonic,TAF1L,NA,nonsynonymous SNV,TAF1L:NM_153809:exon1:c.G4387A:p.E1463K,D,D,D,T,D,T
chr9,32633523,32633523,G,A,R007_S,TAF1L,Silent,NM_153809,exon1,c.C2055T,p.R685R,SNP,SNVindel,exonic,TAF1L,NA,synonymous SNV,TAF1L:NM_153809:exon1:c.C2055T:p.R685R,NA,NA,NA,NA,NA,NA
chr9,33313742,33313742,G,A,R007_S,NFX1,Silent,NM_001318758,exon7,c.G1539A,p.E513E,SNP,SNVindel,exonic,NFX1,NA,synonymous SNV,"NFX1:NM_001318758:exon7:c.G1539A:p.E513E,NFX1:NM_002504:exon7:c.G1539A:p.E513E,NFX1:NM_147134:exon7:c.G1539A:p.E513E",NA,NA,NA,NA,NA,NA
chr9,34381438,34381438,G,A,R007_S,C9orf24,Missense_Mutation,NM_032596,exon4,c.C401T,p.A134V,SNP,SNVindel,exonic,C9orf24,NA,nonsynonymous SNV,C9orf24:NM_032596:exon4:c.C401T:p.A134V,D,N,D,T,N,T
chr9,34622485,34622485,C,T,R007_S,ARID3C,Missense_Mutation,NM_001017363,exon5,c.G907A,p.G303S,SNP,SNVindel,exonic,ARID3C,NA,nonsynonymous SNV,ARID3C:NM_001017363:exon5:c.G907A:p.G303S,T,D,N,T,N,T
chr9,34647687,34647687,C,T,R007_S,GALT,Missense_Mutation,NM_000155,exon4,c.C362T,p.S121F,SNP,SNVindel,exonic,GALT,NA,nonsynonymous SNV,GALT:NM_000155:exon4:c.C362T:p.S121F,D,U,D,D,D,D
chr9,35310521,35310521,G,A,R007_S,UNC13B,Silent,NM_001330653,exon9,c.G819A,p.Q273Q,SNP,SNVindel,exonic,UNC13B,NA,synonymous SNV,"UNC13B:NM_001330653:exon9:c.G819A:p.Q273Q,UNC13B:NM_001371186:exon9:c.G819A:p.Q273Q,UNC13B:NM_006377:exon9:c.G819A:p.Q273Q,UNC13B:NM_001371189:exon10:c.G9066A:p.Q3022Q",NA,NA,NA,NA,NA,NA
chr9,35389896,35389896,C,T,R007_S,UNC13B,Silent,NM_001371188,exon15,c.C1791T,p.F597F,SNP,SNVindel,exonic,UNC13B,NA,synonymous SNV,"UNC13B:NM_001371188:exon15:c.C1791T:p.F597F,UNC13B:NM_001371187:exon17:c.C4041T:p.F1347F,UNC13B:NM_001330653:exon24:c.C2901T:p.F967F,UNC13B:NM_001371186:exon24:c.C2898T:p.F966F,UNC13B:NM_006377:exon24:c.C2901T:p.F967F,UNC13B:NM_001371189:exon25:c.C11148T:p.F3716F",NA,NA,NA,NA,NA,NA
chr9,35606088,35606088,C,T,R007_S,TESK1,Silent,NM_006285,exon2,c.C327T,p.H109H,SNP,SNVindel,exonic,TESK1,NA,synonymous SNV,TESK1:NM_006285:exon2:c.C327T:p.H109H,NA,NA,NA,NA,NA,NA
chr9,35663023,35663023,C,T,R007_S,ARHGEF39,Missense_Mutation,NM_032818,exon6,c.G593A,p.G198D,SNP,SNVindel,exonic,ARHGEF39,NA,nonsynonymous SNV,ARHGEF39:NM_032818:exon6:c.G593A:p.G198D,T,N,D,T,N,T
chr9,35704681,35704681,C,T,R007_S,TLN1,Silent,NM_006289,exon44,c.G5865A,p.R1955R,SNP,SNVindel,exonic,TLN1,NA,synonymous SNV,TLN1:NM_006289:exon44:c.G5865A:p.R1955R,NA,NA,NA,NA,NA,NA
chr9,35706821,35706821,C,T,R007_S,TLN1,Missense_Mutation,NM_006289,exon38,c.G5032A,p.A1678T,SNP,SNVindel,exonic,TLN1,NA,nonsynonymous SNV,TLN1:NM_006289:exon38:c.G5032A:p.A1678T,T,D,D,T,D,D
chr9,35711352,35711352,C,T,R007_S,TLN1,Missense_Mutation,NM_006289,exon30,c.G3919A,p.G1307S,SNP,SNVindel,exonic,TLN1,NA,nonsynonymous SNV,TLN1:NM_006289:exon30:c.G3919A:p.G1307S,T,D,D,T,N,T
chr9,35717339,35717339,G,A,R007_S,TLN1,Silent,NM_006289,exon19,c.C2262T,p.S754S,SNP,SNVindel,exonic,TLN1,NA,synonymous SNV,TLN1:NM_006289:exon19:c.C2262T:p.S754S,NA,NA,NA,NA,NA,NA
chr9,35722212,35722212,C,T,R007_S,TLN1,Silent,NM_006289,exon9,c.G852A,p.K284K,SNP,SNVindel,exonic,TLN1,NA,synonymous SNV,TLN1:NM_006289:exon9:c.G852A:p.K284K,NA,NA,NA,NA,NA,NA
chr9,35740911,35740911,C,T,R007_S,GBA2,Missense_Mutation,NM_001330660,exon5,c.G937A,p.E313K,SNP,SNVindel,exonic,GBA2,NA,nonsynonymous SNV,"GBA2:NM_001330660:exon5:c.G937A:p.E313K,GBA2:NM_020944:exon5:c.G937A:p.E313K",T,D,D,.,N,T
chr9,35802252,35802252,C,T,R007_S,NPR2,Missense_Mutation,NM_003995,exon10,c.C1682T,p.T561I,SNP,SNVindel,exonic,NPR2,NA,nonsynonymous SNV,NPR2:NM_003995:exon10:c.C1682T:p.T561I,D,D,D,D,D,D
chr9,35808752,35808752,G,A,R007_S,NPR2,Missense_Mutation,NM_003995,exon20,c.G2888A,p.G963E,SNP,SNVindel,exonic,NPR2,NA,nonsynonymous SNV,NPR2:NM_003995:exon20:c.G2888A:p.G963E,D,D,D,D,D,D
chr9,35812141,35812141,C,T,R007_S,SPAG8,Missense_Mutation,NM_001039592,exon1,c.G4A,p.E2K,SNP,SNVindel,exonic,SPAG8,NA,nonsynonymous SNV,"SPAG8:NM_001039592:exon1:c.G4A:p.E2K,SPAG8:NM_001366760:exon1:c.G4A:p.E2K,SPAG8:NM_172312:exon1:c.G4A:p.E2K",D,N,D,T,N,T
chr9,36118756,36118756,C,T,R007_S,RECK,Silent,NM_021111,exon18,c.C2256T,p.P752P,SNP,SNVindel,exonic,RECK,NA,synonymous SNV,"RECK:NM_021111:exon18:c.C2256T:p.P752P,RECK:NM_001316345:exon20:c.C1872T:p.P624P",NA,NA,NA,NA,NA,NA
chr9,37126747,37126747,C,T,R007_S,ZCCHC7,Missense_Mutation,NM_001289119,exon2,c.C418T,p.P140S,SNP,SNVindel,exonic,ZCCHC7,NA,nonsynonymous SNV,"ZCCHC7:NM_001289119:exon2:c.C418T:p.P140S,ZCCHC7:NM_001289120:exon2:c.C418T:p.P140S,ZCCHC7:NM_001289121:exon2:c.C418T:p.P140S,ZCCHC7:NM_032226:exon2:c.C418T:p.P140S",T,N,N,T,N,T
chr9,37486758,37486758,G,A,R007_S,POLR1E,Silent,NM_022490,exon2,c.G135A,p.E45E,SNP,SNVindel,exonic,POLR1E,NA,synonymous SNV,POLR1E:NM_022490:exon2:c.G135A:p.E45E,NA,NA,NA,NA,NA,NA
chr9,37592380,37592380,C,T,R007_S,TOMM5,Silent,NM_001134484,exon1,c.G150A,p.E50E,SNP,SNVindel,exonic,TOMM5,NA,synonymous SNV,"TOMM5:NM_001134484:exon1:c.G150A:p.E50E,TOMM5:NM_001134485:exon1:c.G150A:p.E50E",NA,NA,NA,NA,NA,NA
chr9,37746686,37746686,C,T,R007_S,FRMPD1,Missense_Mutation,NM_001371223,exon16,c.C4657T,p.L1553F,SNP,SNVindel,exonic,FRMPD1,NA,nonsynonymous SNV,"FRMPD1:NM_001371223:exon16:c.C4657T:p.L1553F,FRMPD1:NM_001371225:exon16:c.C4657T:p.L1553F,FRMPD1:NM_014907:exon16:c.C4657T:p.L1553F,FRMPD1:NM_001371224:exon17:c.C4657T:p.L1553F",D,D,D,T,N,T
chr9,37784922,37784922,C,T,R007_S,EXOSC3,Silent,NM_001002269,exon1,c.G120A,p.E40E,SNP,SNVindel,exonic,EXOSC3,NA,synonymous SNV,"EXOSC3:NM_001002269:exon1:c.G120A:p.E40E,EXOSC3:NM_016042:exon1:c.G120A:p.E40E",NA,NA,NA,NA,NA,NA
chr9,37919867,37919867,C,T,R007_S,SHB,Missense_Mutation,NM_003028,exon6,c.G1481A,p.G494E,SNP,SNVindel,exonic,SHB,NA,nonsynonymous SNV,SHB:NM_003028:exon6:c.G1481A:p.G494E,D,D,D,T,D,D
chr9,74360048,74360048,C,T,R007_S,CEMIP2,Missense_Mutation,NM_001135820,exon4,c.G920A,p.G307D,SNP,SNVindel,exonic,CEMIP2,NA,nonsynonymous SNV,"CEMIP2:NM_001135820:exon4:c.G920A:p.G307D,CEMIP2:NM_013390:exon4:c.G920A:p.G307D",D,D,D,T,D,D
chr9,78722176,78722176,G,A,R007_S,PCSK5,Missense_Mutation,NM_001190482,exon9,c.G1117A,p.D373N,SNP,SNVindel,exonic,PCSK5,NA,nonsynonymous SNV,"PCSK5:NM_001190482:exon9:c.G1117A:p.D373N,PCSK5:NM_006200:exon9:c.G1117A:p.D373N",D,D,D,D,D,D
chr9,78853944,78853944,C,T,R007_S,PCSK5,Missense_Mutation,NM_001190482,exon23,c.C2936T,p.A979V,SNP,SNVindel,exonic,PCSK5,NA,nonsynonymous SNV,PCSK5:NM_001190482:exon23:c.C2936T:p.A979V,T,N,N,T,N,T
chr9,78953319,78953319,C,T,R007_S,PCSK5,Missense_Mutation,NM_001190482,exon34,c.C4841T,p.T1614I,SNP,SNVindel,exonic,PCSK5,NA,nonsynonymous SNV,PCSK5:NM_001190482:exon34:c.C4841T:p.T1614I,T,N,N,T,N,T
chr9,79117357,79117357,G,A,R007_S,GCNT1,Missense_Mutation,NM_001097636,exon2,c.G60A,p.M20I,SNP,SNVindel,exonic,GCNT1,NA,nonsynonymous SNV,"GCNT1:NM_001097636:exon2:c.G60A:p.M20I,GCNT1:NM_001097633:exon3:c.G60A:p.M20I,GCNT1:NM_001097634:exon3:c.G60A:p.M20I,GCNT1:NM_001097635:exon3:c.G60A:p.M20I,GCNT1:NM_001490:exon4:c.G60A:p.M20I",T,N,N,T,N,T
chr9,79634966,79634966,G,A,R007_S,FOXB2,Silent,NM_001013735,exon1,c.G396A,p.P132P,SNP,SNVindel,exonic,FOXB2,NA,synonymous SNV,FOXB2:NM_001013735:exon1:c.G396A:p.P132P,NA,NA,NA,NA,NA,NA
chr9,79910476,79910476,C,T,R007_S,VPS13A,Nonsense_Mutation,NM_001018037,exon32,c.C3409T,p.Q1137X,SNP,SNVindel,exonic,VPS13A,NA,stopgain,"VPS13A:NM_001018037:exon32:c.C3409T:p.Q1137X,VPS13A:NM_001018038:exon33:c.C3526T:p.Q1176X,VPS13A:NM_015186:exon33:c.C3526T:p.Q1176X,VPS13A:NM_033305:exon33:c.C3526T:p.Q1176X",.,D,A,.,.,.
chr9,79971679,79971679,C,T,R007_S,VPS13A,Missense_Mutation,NM_001018037,exon54,c.C7585T,p.P2529S,SNP,SNVindel,exonic,VPS13A,NA,nonsynonymous SNV,"VPS13A:NM_001018037:exon54:c.C7585T:p.P2529S,VPS13A:NM_001018038:exon55:c.C7702T:p.P2568S,VPS13A:NM_015186:exon55:c.C7702T:p.P2568S,VPS13A:NM_033305:exon55:c.C7702T:p.P2568S",T,D,D,T,D,T
chr9,79985478,79985478,G,A,R007_S,VPS13A,Missense_Mutation,NM_001018037,exon64,c.G8774A,p.G2925E,SNP,SNVindel,exonic,VPS13A,NA,nonsynonymous SNV,"VPS13A:NM_001018037:exon64:c.G8774A:p.G2925E,VPS13A:NM_001018038:exon65:c.G8891A:p.G2964E,VPS13A:NM_015186:exon65:c.G8891A:p.G2964E,VPS13A:NM_033305:exon65:c.G8891A:p.G2964E",D,D,D,T,D,D
chr9,80855265,80855265,G,A,R007_S,CEP78,Missense_Mutation,NM_001098802,exon3,c.G484A,p.D162N,SNP,SNVindel,exonic,CEP78,NA,nonsynonymous SNV,"CEP78:NM_001098802:exon3:c.G484A:p.D162N,CEP78:NM_001330691:exon3:c.G484A:p.D162N,CEP78:NM_001330693:exon3:c.G484A:p.D162N,CEP78:NM_001330694:exon3:c.G484A:p.D162N,CEP78:NM_001349838:exon3:c.G484A:p.D162N,CEP78:NM_001349839:exon3:c.G484A:p.D162N,CEP78:NM_001349840:exon3:c.G484A:p.D162N,CEP78:NM_032171:exon3:c.G484A:p.D162N",D,D,D,T,D,T
chr9,85640740,85640740,C,T,R007_S,RASEF,Silent,NM_152573,exon2,c.G528A,p.E176E,SNP,SNVindel,exonic,RASEF,NA,synonymous SNV,RASEF:NM_152573:exon2:c.G528A:p.E176E,NA,NA,NA,NA,NA,NA
chr9,86571228,86571228,G,A,R007_S,C9orf64,Missense_Mutation,NM_032307,exon1,c.C188T,p.A63V,SNP,SNVindel,exonic,C9orf64,NA,nonsynonymous SNV,C9orf64:NM_032307:exon1:c.C188T:p.A63V,T,N,D,.,N,T
chr9,88933937,88933937,C,T,R007_S,TUT7,Missense_Mutation,NM_001185059,exon16,c.G3152A,p.G1051E,SNP,SNVindel,exonic,TUT7,NA,nonsynonymous SNV,"TUT7:NM_001185059:exon16:c.G3152A:p.G1051E,TUT7:NM_024617:exon16:c.G3152A:p.G1051E,TUT7:NM_001330718:exon17:c.G1019A:p.G340E",D,D,D,D,D,D
chr9,91963061,91963061,C,T,R007_S,SECISBP2,Missense_Mutation,NM_001354698,exon11,c.C1463T,p.T488I,SNP,SNVindel,exonic,SECISBP2,NA,nonsynonymous SNV,"SECISBP2:NM_001354698:exon11:c.C1463T:p.T488I,SECISBP2:NM_001282688:exon12:c.C1667T:p.T556I,SECISBP2:NM_001282689:exon12:c.C1451T:p.T484I,SECISBP2:NM_001282690:exon12:c.C1466T:p.T489I,SECISBP2:NM_001354696:exon12:c.C1553T:p.T518I,SECISBP2:NM_001354697:exon12:c.C1556T:p.T519I,SECISBP2:NM_001354702:exon12:c.C785T:p.T262I,SECISBP2:NM_024077:exon12:c.C1670T:p.T557I",T,N,N,T,N,T
chr9,93657821,93657821,G,A,R007_S,SYK,Missense_Mutation,NM_001135052,exon13,c.G1778A,p.R593K,SNP,SNVindel,exonic,SYK,NA,nonsynonymous SNV,"SYK:NM_001135052:exon13:c.G1778A:p.R593K,SYK:NM_001174168:exon13:c.G1778A:p.R593K,SYK:NM_001174167:exon14:c.G1847A:p.R616K,SYK:NM_003177:exon14:c.G1847A:p.R616K",D,D,D,D,N,D
chr9,95088341,95088341,G,A,R007_S,CENPP,Missense_Mutation,NM_001012267,exon1,c.G61A,p.A21T,SNP,SNVindel,exonic,CENPP,NA,nonsynonymous SNV,CENPP:NM_001012267:exon1:c.G61A:p.A21T,T,N,N,.,N,T
chr9,95166806,95166806,G,A,R007_S,OGN,Missense_Mutation,NM_024416,exon1,c.C152T,p.T51I,SNP,SNVindel,exonic,OGN,NA,nonsynonymous SNV,OGN:NM_024416:exon1:c.C152T:p.T51I,D,.,D,T,N,T
chr9,95228836,95228836,G,A,R007_S,ASPN,Silent,NM_001193335,exon5,c.C402T,p.N134N,SNP,SNVindel,exonic,ASPN,NA,synonymous SNV,"ASPN:NM_001193335:exon5:c.C402T:p.N134N,ASPN:NM_017680:exon5:c.C402T:p.N134N",NA,NA,NA,NA,NA,NA
chr9,95285011,95285011,C,T,R007_S,ECM2,Silent,NM_001197295,exon2,c.G138A,p.K46K,SNP,SNVindel,exonic,ECM2,NA,synonymous SNV,"ECM2:NM_001197295:exon2:c.G138A:p.K46K,ECM2:NM_001197296:exon2:c.G138A:p.K46K,ECM2:NM_001393:exon2:c.G138A:p.K46K",NA,NA,NA,NA,NA,NA
chr9,95480946,95480946,G,A,R007_S,BICD2,Silent,NM_001003800,exon5,c.C1981T,p.L661L,SNP,SNVindel,exonic,BICD2,NA,synonymous SNV,"BICD2:NM_001003800:exon5:c.C1981T:p.L661L,BICD2:NM_015250:exon5:c.C1981T:p.L661L",NA,NA,NA,NA,NA,NA
chr9,95887228,95887228,C,T,R007_S,NINJ1,Missense_Mutation,NM_004148,exon3,c.G421A,p.V141I,SNP,SNVindel,exonic,NINJ1,NA,nonsynonymous SNV,NINJ1:NM_004148:exon3:c.G421A:p.V141I,T,D,D,T,N,T
chr9,96055082,96055082,C,T,R007_S,WNK2,Missense_Mutation,NM_006648,exon22,c.C5335T,p.P1779S,SNP,SNVindel,exonic,WNK2,NA,nonsynonymous SNV,"WNK2:NM_006648:exon22:c.C5335T:p.P1779S,WNK2:NM_001282394:exon23:c.C5446T:p.P1816S",D,D,D,T,D,D
chr9,96061488,96061488,G,A,R007_S,WNK2,Silent,NM_006648,exon24,c.G6060A,p.L2020L,SNP,SNVindel,exonic,WNK2,NA,synonymous SNV,"WNK2:NM_006648:exon24:c.G6060A:p.L2020L,WNK2:NM_001282394:exon25:c.G6171A:p.L2057L",NA,NA,NA,NA,NA,NA
chr9,96214751,96214751,C,T,R007_S,FAM120AOS,Missense_Mutation,NM_198841,exon1,c.G241A,p.A81T,SNP,SNVindel,exonic,FAM120AOS,NA,nonsynonymous SNV,FAM120AOS:NM_198841:exon1:c.G241A:p.A81T,D,.,N,T,N,T
chr9,97221589,97221589,C,T,R007_S,MFSD14B,Silent,NM_032558,exon12,c.C1416T,p.T472T,SNP,SNVindel,exonic,MFSD14B,NA,synonymous SNV,MFSD14B:NM_032558:exon12:c.C1416T:p.T472T,NA,NA,NA,NA,NA,NA
chr9,97876929,97876929,A,G,R007_S,FANCC,Missense_Mutation,NM_000136,exon12,c.T1136C,p.V379A,SNP,SNVindel,exonic,FANCC,NA,nonsynonymous SNV,"FANCC:NM_000136:exon12:c.T1136C:p.V379A,FANCC:NM_001243743:exon12:c.T1136C:p.V379A,FANCC:NM_001243744:exon12:c.T1136C:p.V379A",T,N,N,T,N,T
chr9,98638355,98638355,C,T,R007_S,ERCC6L2,Missense_Mutation,NM_001010895,exon1,c.C35T,p.T12I,SNP,SNVindel,exonic,ERCC6L2,NA,nonsynonymous SNV,"ERCC6L2:NM_001010895:exon1:c.C35T:p.T12I,ERCC6L2:NM_020207:exon1:c.C68T:p.T23I",T,.,N,D,N,T
chr9,99521534,99521534,G,A,R007_S,ZNF510,Silent,NM_001314060,exon5,c.C1392T,p.G464G,SNP,SNVindel,exonic,ZNF510,NA,synonymous SNV,"ZNF510:NM_001314060:exon5:c.C1392T:p.G464G,ZNF510:NM_001314059:exon6:c.C1578T:p.G526G,ZNF510:NM_014930:exon6:c.C1578T:p.G526G",NA,NA,NA,NA,NA,NA
chr9,100071720,100071720,G,A,R007_S,CCDC180,Missense_Mutation,NM_020893,exon3,c.G226A,p.A76T,SNP,SNVindel,exonic,CCDC180,NA,nonsynonymous SNV,"CCDC180:NM_020893:exon3:c.G226A:p.A76T,CCDC180:NM_001348010:exon4:c.G226A:p.A76T",T,N,N,T,N,T
chr9,100082471,100082471,C,T,R007_S,CCDC180,Silent,NM_020893,exon11,c.C1275T,p.S425S,SNP,SNVindel,exonic,CCDC180,NA,synonymous SNV,"CCDC180:NM_020893:exon11:c.C1275T:p.S425S,CCDC180:NM_001348010:exon12:c.C1266T:p.S422S",NA,NA,NA,NA,NA,NA
chr9,100249497,100249497,G,A,R007_S,TDRD7,Missense_Mutation,NM_001302884,exon15,c.G2737A,p.V913I,SNP,SNVindel,exonic,TDRD7,NA,nonsynonymous SNV,"TDRD7:NM_001302884:exon15:c.G2737A:p.V913I,TDRD7:NM_014290:exon16:c.G2959A:p.V987I",D,D,D,T,N,T
chr9,100672634,100672634,C,T,R007_S,TRMO,Missense_Mutation,NM_016481,exon4,c.G674A,p.R225K,SNP,SNVindel,exonic,TRMO,NA,nonsynonymous SNV,"TRMO:NM_016481:exon4:c.G674A:p.R225K,TRMO:NM_001330725:exon5:c.G236A:p.R79K",T,N,N,T,N,T
chr9,100840596,100840596,C,T,R007_S,NANS,Silent,NM_018946,exon4,c.C570T,p.L190L,SNP,SNVindel,exonic,NANS,NA,synonymous SNV,NANS:NM_018946:exon4:c.C570T:p.L190L,NA,NA,NA,NA,NA,NA
chr9,100892092,100892092,G,A,R007_S,CORO2A,Silent,NM_003389,exon8,c.C951T,p.N317N,SNP,SNVindel,exonic,CORO2A,NA,synonymous SNV,"CORO2A:NM_003389:exon8:c.C951T:p.N317N,CORO2A:NM_052820:exon8:c.C951T:p.N317N",NA,NA,NA,NA,NA,NA
chr9,101216366,101216366,G,A,R007_S,GABBR2,Missense_Mutation,NM_005458,exon7,c.C1133T,p.A378V,SNP,SNVindel,exonic,GABBR2,NA,nonsynonymous SNV,GABBR2:NM_005458:exon7:c.C1133T:p.A378V,T,N,D,T,N,T
chr9,101216417,101216417,C,T,R007_S,GABBR2,Missense_Mutation,NM_005458,exon7,c.G1082A,p.G361D,SNP,SNVindel,exonic,GABBR2,NA,nonsynonymous SNV,GABBR2:NM_005458:exon7:c.G1082A:p.G361D,D,D,D,T,D,T
chr9,101470786,101470786,G,A,R007_S,GABBR2,Silent,NM_005458,exon1,c.C234T,p.L78L,SNP,SNVindel,exonic,GABBR2,NA,synonymous SNV,GABBR2:NM_005458:exon1:c.C234T:p.L78L,NA,NA,NA,NA,NA,NA
chr9,101544848,101544848,C,T,R007_S,ANKS6,Missense_Mutation,NM_173551,exon5,c.G1120A,p.E374K,SNP,SNVindel,exonic,ANKS6,NA,nonsynonymous SNV,ANKS6:NM_173551:exon5:c.G1120A:p.E374K,D,D,D,T,N,T
chr9,101812144,101812144,C,T,R007_S,COL15A1,Silent,NM_001855,exon30,c.C2871T,p.F957F,SNP,SNVindel,exonic,COL15A1,NA,synonymous SNV,COL15A1:NM_001855:exon30:c.C2871T:p.F957F,NA,NA,NA,NA,NA,NA
chr9,101980892,101980892,G,A,R007_S,ALG2,Missense_Mutation,NM_033087,exon2,c.C575T,p.S192F,SNP,SNVindel,exonic,ALG2,NA,nonsynonymous SNV,ALG2:NM_033087:exon2:c.C575T:p.S192F,D,N,D,T,D,T
chr9,102778702,102778702,C,T,R007_S,ERP44,Missense_Mutation,NM_015051,exon8,c.G664A,p.V222M,SNP,SNVindel,exonic,ERP44,NA,nonsynonymous SNV,ERP44:NM_015051:exon8:c.G664A:p.V222M,T,D,D,T,N,T
chr9,102888723,102888723,C,T,R007_S,INVS,Silent,NM_014425,exon3,c.C165T,p.C55C,SNP,SNVindel,exonic,INVS,NA,synonymous SNV,INVS:NM_014425:exon3:c.C165T:p.C55C,NA,NA,NA,NA,NA,NA
chr9,104153093,104153093,C,T,R007_S,MRPL50,Silent,NM_019051,exon2,c.G132A,p.E44E,SNP,SNVindel,exonic,MRPL50,NA,synonymous SNV,MRPL50:NM_019051:exon2:c.G132A:p.E44E,NA,NA,NA,NA,NA,NA
chr9,104171020,104171020,G,A,R007_S,ZNF189,Missense_Mutation,NM_001278231,exon3,c.G928A,p.A310T,SNP,SNVindel,exonic,ZNF189,NA,nonsynonymous SNV,"ZNF189:NM_001278231:exon3:c.G928A:p.A310T,ZNF189:NM_001278232:exon3:c.G925A:p.A309T,ZNF189:NM_003452:exon3:c.G970A:p.A324T,ZNF189:NM_197977:exon4:c.G844A:p.A282T",T,D,D,T,N,T
chr9,104324242,104324242,C,T,R007_S,RNF20,Silent,NM_019592,exon19,c.C2700T,p.D900D,SNP,SNVindel,exonic,RNF20,NA,synonymous SNV,RNF20:NM_019592:exon19:c.C2700T:p.D900D,NA,NA,NA,NA,NA,NA
chr9,104449145,104449145,C,T,R007_S,GRIN3A,Missense_Mutation,NM_133445,exon2,c.G1037A,p.G346E,SNP,SNVindel,exonic,GRIN3A,NA,nonsynonymous SNV,GRIN3A:NM_133445:exon2:c.G1037A:p.G346E,D,N,D,D,N,D
chr9,107298681,107298681,C,T,R007_S,OR13C3,Silent,NM_001001961,exon1,c.G414A,p.G138G,SNP,SNVindel,exonic,OR13C3,NA,synonymous SNV,OR13C3:NM_001001961:exon1:c.G414A:p.G138G,NA,NA,NA,NA,NA,NA
chr9,107553278,107553278,C,T,R007_S,ABCA1,Missense_Mutation,NM_005502,exon44,c.G5852A,p.G1951E,SNP,SNVindel,exonic,ABCA1,NA,nonsynonymous SNV,ABCA1:NM_005502:exon44:c.G5852A:p.G1951E,D,D,D,D,D,D
chr9,107564340,107564340,C,T,R007_S,ABCA1,Missense_Mutation,NM_005502,exon34,c.G4693A,p.A1565T,SNP,SNVindel,exonic,ABCA1,NA,nonsynonymous SNV,ABCA1:NM_005502:exon34:c.G4693A:p.A1565T,T,N,N,D,N,T
chr9,110249388,110249388,G,A,R007_S,KLF4,Silent,NM_001314052,exon3,c.C1287T,p.T429T,SNP,SNVindel,exonic,KLF4,NA,synonymous SNV,"KLF4:NM_001314052:exon3:c.C1287T:p.T429T,KLF4:NM_004235:exon4:c.C1185T:p.T395T",NA,NA,NA,NA,NA,NA
chr9,111625340,111625340,C,T,R007_S,ACTL7A,Silent,NM_006687,exon1,c.C738T,p.G246G,SNP,SNVindel,exonic,ACTL7A,NA,synonymous SNV,ACTL7A:NM_006687:exon1:c.C738T:p.G246G,NA,NA,NA,NA,NA,NA
chr9,111929567,111929567,C,T,R007_S,FRRS1L,Missense_Mutation,NM_014334,exon1,c.G5A,p.R2H,SNP,SNVindel,exonic,FRRS1L,NA,nonsynonymous SNV,FRRS1L:NM_014334:exon1:c.G5A:p.R2H,.,.,N,.,.,T
chr9,112898887,112898887,C,T,R007_S,PALM2-AKAP2,Missense_Mutation,NM_001004065,exon2,c.C637T,p.P213S,SNP,SNVindel,exonic,PALM2-AKAP2,NA,nonsynonymous SNV,"PALM2-AKAP2:NM_001004065:exon2:c.C637T:p.P213S,PALM2-AKAP2:NM_001136562:exon2:c.C370T:p.P124S,PALM2-AKAP2:NM_001198656:exon2:c.C637T:p.P213S,PALM2-AKAP2:NM_007203:exon8:c.C1063T:p.P355S,PALM2-AKAP2:NM_147150:exon8:c.C1063T:p.P355S",T,N,N,T,N,T
chr9,112899529,112899529,C,T,R007_S,PALM2-AKAP2,Nonsense_Mutation,NM_001004065,exon2,c.C1279T,p.Q427X,SNP,SNVindel,exonic,PALM2-AKAP2,NA,stopgain,"PALM2-AKAP2:NM_001004065:exon2:c.C1279T:p.Q427X,PALM2-AKAP2:NM_001136562:exon2:c.C1012T:p.Q338X,PALM2-AKAP2:NM_001198656:exon2:c.C1279T:p.Q427X,PALM2-AKAP2:NM_007203:exon8:c.C1705T:p.Q569X,PALM2-AKAP2:NM_147150:exon8:c.C1705T:p.Q569X",.,N,A,.,.,.
chr9,112963694,112963694,C,T,R007_S,C9orf152,Missense_Mutation,NM_001012993,exon2,c.G254A,p.R85K,SNP,SNVindel,exonic,C9orf152,NA,nonsynonymous SNV,C9orf152:NM_001012993:exon2:c.G254A:p.R85K,T,N,N,.,N,T
chr9,114337122,114337122,C,T,R007_S,PTGR1,Missense_Mutation,NM_001146108,exon8,c.G652A,p.V218I,SNP,SNVindel,exonic,PTGR1,NA,nonsynonymous SNV,"PTGR1:NM_001146108:exon8:c.G652A:p.V218I,PTGR1:NM_001146109:exon8:c.G652A:p.V218I,PTGR1:NM_012212:exon8:c.G652A:p.V218I",D,D,D,T,N,T
chr9,116136063,116136063,C,T,R007_S,HDHD3,Missense_Mutation,NM_001304511,exon2,c.G572A,p.G191E,SNP,SNVindel,exonic,HDHD3,NA,nonsynonymous SNV,"HDHD3:NM_001304511:exon2:c.G572A:p.G191E,HDHD3:NM_031219:exon2:c.G572A:p.G191E,HDHD3:NM_001304509:exon3:c.G572A:p.G191E,HDHD3:NM_001304510:exon3:c.G572A:p.G191E",D,D,D,T,D,T
chr9,116186470,116186470,C,T,R007_S,C9orf43,Silent,NM_001278629,exon8,c.C681T,p.T227T,SNP,SNVindel,exonic,C9orf43,NA,synonymous SNV,"C9orf43:NM_001278629:exon8:c.C681T:p.T227T,C9orf43:NM_001278630:exon8:c.C735T:p.T245T,C9orf43:NM_152786:exon8:c.C681T:p.T227T",NA,NA,NA,NA,NA,NA
chr9,116191520,116191520,G,A,R007_S,C9orf43,Missense_Mutation,NM_001278629,exon14,c.G1240A,p.A414T,SNP,SNVindel,exonic,C9orf43,NA,nonsynonymous SNV,"C9orf43:NM_001278629:exon14:c.G1240A:p.A414T,C9orf43:NM_001278630:exon14:c.G1294A:p.A432T,C9orf43:NM_152786:exon14:c.G1240A:p.A414T",T,N,N,T,N,T
chr9,116224040,116224040,C,T,R007_S,RGS3,Missense_Mutation,NM_144488,exon3,c.C134T,p.P45L,SNP,SNVindel,exonic,RGS3,NA,nonsynonymous SNV,RGS3:NM_144488:exon3:c.C134T:p.P45L,D,.,N,T,N,T
chr9,116359225,116359225,C,T,R007_S,RGS3,Missense_Mutation,NM_001276262,exon5,c.C499T,p.P167S,SNP,SNVindel,exonic,RGS3,NA,nonsynonymous SNV,"RGS3:NM_001276262:exon5:c.C499T:p.P167S,RGS3:NM_134427:exon5:c.C499T:p.P167S,RGS3:NM_144489:exon5:c.C928T:p.P310S,RGS3:NM_001276260:exon7:c.C1552T:p.P518S,RGS3:NM_001322215:exon7:c.C1606T:p.P536S,RGS3:NM_001282922:exon8:c.C1552T:p.P518S,RGS3:NM_001351526:exon9:c.C1552T:p.P518S,RGS3:NM_001276261:exon15:c.C1768T:p.P590S,RGS3:NM_130795:exon16:c.C2746T:p.P916S,RGS3:NM_001282923:exon23:c.C3259T:p.P1087S,RGS3:NM_144488:exon26:c.C3589T:p.P1197S",D,D,D,T,N,T
chr9,117139421,117139421,C,T,R007_S,AKNA,Silent,NM_001317952,exon2,c.G309A,p.E103E,SNP,SNVindel,exonic,AKNA,NA,synonymous SNV,"AKNA:NM_001317952:exon2:c.G309A:p.E103E,AKNA:NM_001317950:exon3:c.G666A:p.E222E,AKNA:NM_030767:exon3:c.G666A:p.E222E",NA,NA,NA,NA,NA,NA
chr9,117240857,117240857,G,A,R007_S,WHRN,Silent,NM_001173425,exon2,c.C813T,p.L271L,SNP,SNVindel,exonic,WHRN,NA,synonymous SNV,"WHRN:NM_001173425:exon2:c.C813T:p.L271L,WHRN:NM_015404:exon2:c.C813T:p.L271L",NA,NA,NA,NA,NA,NA
chr9,119858368,119858368,G,A,R007_S,ASTN2,Silent,NM_014010,exon4,c.C1078T,p.L360L,SNP,SNVindel,exonic,ASTN2,NA,synonymous SNV,"ASTN2:NM_014010:exon4:c.C1078T:p.L360L,ASTN2:NM_001365068:exon5:c.C1231T:p.L411L,ASTN2:NM_001365069:exon5:c.C1231T:p.L411L",NA,NA,NA,NA,NA,NA
chr9,123215931,123215931,C,T,R007_S,CDK5RAP2,Missense_Mutation,NM_001011649,exon21,c.G2596A,p.V866I,SNP,SNVindel,exonic,CDK5RAP2,NA,nonsynonymous SNV,"CDK5RAP2:NM_001011649:exon21:c.G2596A:p.V866I,CDK5RAP2:NM_018249:exon21:c.G2596A:p.V866I",T,N,N,T,N,T
chr9,123370165,123370165,C,T,R007_S,MEGF9,Missense_Mutation,NM_001080497,exon5,c.G1211A,p.G404D,SNP,SNVindel,exonic,MEGF9,NA,nonsynonymous SNV,MEGF9:NM_001080497:exon5:c.G1211A:p.G404D,T,N,D,T,D,T
chr9,123782324,123782324,C,T,R007_S,C5,Missense_Mutation,NM_001317163,exon12,c.G1454A,p.G485E,SNP,SNVindel,exonic,C5,NA,nonsynonymous SNV,"C5:NM_001317163:exon12:c.G1454A:p.G485E,C5:NM_001317164:exon12:c.G1436A:p.G479E,C5:NM_001735:exon12:c.G1436A:p.G479E",D,D,D,T,D,D
chr9,124910490,124910490,C,T,R007_S,NDUFA8,Silent,NM_001318195,exon3,c.G282A,p.Q94Q,SNP,SNVindel,exonic,NDUFA8,NA,synonymous SNV,"NDUFA8:NM_001318195:exon3:c.G282A:p.Q94Q,NDUFA8:NM_014222:exon3:c.G282A:p.Q94Q",NA,NA,NA,NA,NA,NA
chr9,125140184,125140184,C,T,R007_S,PTGS1,Missense_Mutation,NM_000962,exon3,c.C101T,p.P34L,SNP,SNVindel,exonic,PTGS1,NA,nonsynonymous SNV,"PTGS1:NM_000962:exon3:c.C101T:p.P34L,PTGS1:NM_001271164:exon3:c.C101T:p.P34L,PTGS1:NM_080591:exon3:c.C101T:p.P34L,PTGS1:NM_001271368:exon4:c.C26T:p.P9L",D,D,D,T,D,D
chr9,125145844,125145844,C,T,R007_S,PTGS1,Silent,NM_001271164,exon7,c.C675T,p.H225H,SNP,SNVindel,exonic,PTGS1,NA,synonymous SNV,"PTGS1:NM_001271164:exon7:c.C675T:p.H225H,PTGS1:NM_001271165:exon7:c.C492T:p.H164H,PTGS1:NM_000962:exon8:c.C819T:p.H273H,PTGS1:NM_001271166:exon8:c.C492T:p.H164H,PTGS1:NM_001271367:exon8:c.C492T:p.H164H,PTGS1:NM_080591:exon8:c.C819T:p.H273H,PTGS1:NM_001271368:exon9:c.C744T:p.H248H",NA,NA,NA,NA,NA,NA
chr9,125145952,125145952,C,T,R007_S,PTGS1,Silent,NM_001271164,exon7,c.C783T,p.N261N,SNP,SNVindel,exonic,PTGS1,NA,synonymous SNV,"PTGS1:NM_001271164:exon7:c.C783T:p.N261N,PTGS1:NM_001271165:exon7:c.C600T:p.N200N,PTGS1:NM_000962:exon8:c.C927T:p.N309N,PTGS1:NM_001271166:exon8:c.C600T:p.N200N,PTGS1:NM_001271367:exon8:c.C600T:p.N200N,PTGS1:NM_080591:exon8:c.C927T:p.N309N,PTGS1:NM_001271368:exon9:c.C852T:p.N284N",NA,NA,NA,NA,NA,NA
chr9,125315589,125315589,C,T,R007_S,OR1N2,Silent,NM_001004457,exon1,c.C99T,p.I33I,SNP,SNVindel,exonic,OR1N2,NA,synonymous SNV,OR1N2:NM_001004457:exon1:c.C99T:p.I33I,NA,NA,NA,NA,NA,NA
chr9,125752390,125752390,C,T,R007_S,RABGAP1,Missense_Mutation,NM_012197,exon6,c.C821T,p.T274I,SNP,SNVindel,exonic,RABGAP1,NA,nonsynonymous SNV,RABGAP1:NM_012197:exon6:c.C821T:p.T274I,T,N,D,T,N,T
chr9,125760946,125760946,C,T,R007_S,RABGAP1,Silent,NM_012197,exon10,c.C1275T,p.L425L,SNP,SNVindel,exonic,RABGAP1,NA,synonymous SNV,RABGAP1:NM_012197:exon10:c.C1275T:p.L425L,NA,NA,NA,NA,NA,NA
chr9,127285025,127285025,C,T,R007_S,NR6A1,Missense_Mutation,NM_001278546,exon10,c.G1390A,p.V464M,SNP,SNVindel,exonic,NR6A1,NA,nonsynonymous SNV,"NR6A1:NM_001278546:exon10:c.G1390A:p.V464M,NR6A1:NM_001489:exon10:c.G1387A:p.V463M,NR6A1:NM_033334:exon10:c.G1402A:p.V468M",D,D,D,D,N,D
chr9,127915915,127915915,C,T,R007_S,PPP6C,Missense_Mutation,NM_001123369,exon5,c.G500A,p.G167E,SNP,SNVindel,exonic,PPP6C,NA,nonsynonymous SNV,"PPP6C:NM_001123369:exon5:c.G500A:p.G167E,PPP6C:NM_002721:exon6:c.G566A:p.G189E,PPP6C:NM_001123355:exon7:c.G677A:p.G226E",D,D,D,T,D,D
chr9,128001435,128001435,G,A,R007_S,HSPA5,Missense_Mutation,NM_005347,exon5,c.C781T,p.R261C,SNP,SNVindel,exonic,HSPA5,NA,nonsynonymous SNV,HSPA5:NM_005347:exon5:c.C781T:p.R261C,D,D,D,T,D,T
chr9,128064919,128064919,G,A,R007_S,GAPVD1,Silent,NM_001282681,exon3,c.G843A,p.R281R,SNP,SNVindel,exonic,GAPVD1,NA,synonymous SNV,"GAPVD1:NM_001282681:exon3:c.G843A:p.R281R,GAPVD1:NM_001330778:exon3:c.G843A:p.R281R,GAPVD1:NM_001354294:exon3:c.G843A:p.R281R,GAPVD1:NM_001354298:exon3:c.G843A:p.R281R,GAPVD1:NM_015635:exon3:c.G843A:p.R281R,GAPVD1:NM_001330777:exon4:c.G843A:p.R281R,GAPVD1:NM_001354295:exon4:c.G843A:p.R281R,GAPVD1:NM_001354300:exon4:c.G843A:p.R281R,GAPVD1:NM_001282679:exon5:c.G843A:p.R281R,GAPVD1:NM_001282680:exon5:c.G843A:p.R281R,GAPVD1:NM_001354293:exon5:c.G843A:p.R281R,GAPVD1:NM_001354296:exon5:c.G843A:p.R281R,GAPVD1:NM_001354297:exon5:c.G843A:p.R281R,GAPVD1:NM_001354301:exon5:c.G843A:p.R281R,GAPVD1:NM_001354299:exon6:c.G843A:p.R281R",NA,NA,NA,NA,NA,NA
chr9,128092402,128092402,G,A,R007_S,GAPVD1,Missense_Mutation,NM_001282681,exon11,c.G2015A,p.G672D,SNP,SNVindel,exonic,GAPVD1,NA,nonsynonymous SNV,"GAPVD1:NM_001282681:exon11:c.G2015A:p.G672D,GAPVD1:NM_001330778:exon11:c.G2078A:p.G693D,GAPVD1:NM_001354294:exon11:c.G2078A:p.G693D,GAPVD1:NM_001354298:exon11:c.G2078A:p.G693D,GAPVD1:NM_015635:exon11:c.G2078A:p.G693D,GAPVD1:NM_001330777:exon12:c.G2015A:p.G672D,GAPVD1:NM_001354295:exon12:c.G2078A:p.G693D,GAPVD1:NM_001354300:exon12:c.G2015A:p.G672D,GAPVD1:NM_001282679:exon13:c.G2078A:p.G693D,GAPVD1:NM_001282680:exon13:c.G2078A:p.G693D,GAPVD1:NM_001354296:exon13:c.G2078A:p.G693D,GAPVD1:NM_001354297:exon13:c.G2015A:p.G672D,GAPVD1:NM_001354301:exon13:c.G2078A:p.G693D,GAPVD1:NM_001354299:exon14:c.G2078A:p.G693D",D,D,D,T,N,T
chr9,129856160,129856160,G,A,R007_S,ANGPTL2,Missense_Mutation,NM_012098,exon3,c.C863T,p.T288I,SNP,SNVindel,exonic,ANGPTL2,NA,nonsynonymous SNV,ANGPTL2:NM_012098:exon3:c.C863T:p.T288I,T,N,D,T,N,T
chr9,129974950,129974950,C,T,R007_S,RALGPS1,Silent,NM_001190728,exon14,c.C1272T,p.T424T,SNP,SNVindel,exonic,RALGPS1,NA,synonymous SNV,"RALGPS1:NM_001190728:exon14:c.C1272T:p.T424T,RALGPS1:NM_001322323:exon14:c.C1182T:p.T394T,RALGPS1:NM_001366401:exon14:c.C1272T:p.T424T,RALGPS1:NM_001190729:exon15:c.C1272T:p.T424T,RALGPS1:NM_001322320:exon15:c.C1272T:p.T424T,RALGPS1:NM_001322324:exon15:c.C1269T:p.T423T,RALGPS1:NM_001366400:exon16:c.C1398T:p.T466T,RALGPS1:NM_014636:exon16:c.C1398T:p.T466T,RALGPS1:NM_001322321:exon17:c.C1479T:p.T493T,RALGPS1:NM_001322322:exon17:c.C1479T:p.T493T,RALGPS1:NM_001322325:exon17:c.C1482T:p.T494T",NA,NA,NA,NA,NA,NA
chr9,130573236,130573236,G,A,R007_S,FPGS,Missense_Mutation,NM_001288803,exon13,c.G1222A,p.D408N,SNP,SNVindel,exonic,FPGS,NA,nonsynonymous SNV,"FPGS:NM_001288803:exon13:c.G1222A:p.D408N,FPGS:NM_001018078:exon14:c.G1150A:p.D384N,FPGS:NM_004957:exon14:c.G1300A:p.D434N",T,D,D,T,N,T
chr9,130588046,130588046,C,T,R007_S,ENG,Missense_Mutation,NM_000118,exon5,c.G617A,p.G206D,SNP,SNVindel,exonic,ENG,NA,nonsynonymous SNV,"ENG:NM_000118:exon5:c.G617A:p.G206D,ENG:NM_001114753:exon5:c.G617A:p.G206D,ENG:NM_001278138:exon5:c.G71A:p.G24D",D,N,N,T,D,T
chr9,130653168,130653168,G,A,R007_S,ST6GALNAC6,Missense_Mutation,NM_001287000,exon4,c.C350T,p.T117I,SNP,SNVindel,exonic,ST6GALNAC6,NA,nonsynonymous SNV,"ST6GALNAC6:NM_001287000:exon4:c.C350T:p.T117I,ST6GALNAC6:NM_001287001:exon4:c.C350T:p.T117I,ST6GALNAC6:NM_001287002:exon4:c.C350T:p.T117I,ST6GALNAC6:NM_001286999:exon5:c.C452T:p.T151I,ST6GALNAC6:NM_013443:exon5:c.C452T:p.T151I",D,D,D,T,D,T
chr9,130687413,130687413,C,T,R007_S,PIP5KL1,Missense_Mutation,NM_173492,exon4,c.G281A,p.G94D,SNP,SNVindel,exonic,PIP5KL1,NA,nonsynonymous SNV,"PIP5KL1:NM_173492:exon4:c.G281A:p.G94D,PIP5KL1:NM_001135219:exon9:c.G890A:p.G297D",T,N,N,T,N,T
chr9,130869423,130869423,C,T,R007_S,SLC25A25,Missense_Mutation,NM_001006641,exon9,c.C1292T,p.P431L,SNP,SNVindel,exonic,SLC25A25,NA,nonsynonymous SNV,"SLC25A25:NM_001006641:exon9:c.C1292T:p.P431L,SLC25A25:NM_001006642:exon9:c.C1250T:p.P417L,SLC25A25:NM_052901:exon9:c.C1190T:p.P397L,SLC25A25:NM_001265614:exon10:c.C1286T:p.P429L,SLC25A25:NM_001330988:exon10:c.C1328T:p.P443L",D,D,D,D,D,D
chr9,130885218,130885218,C,T,R007_S,PTGES2,Silent,NM_025072,exon5,c.G882A,p.K294K,SNP,SNVindel,exonic,PTGES2,NA,synonymous SNV,"PTGES2:NM_025072:exon5:c.G882A:p.K294K,PTGES2:NM_001256335:exon6:c.G309A:p.K103K,PTGES2:NM_198938:exon6:c.G309A:p.K103K",NA,NA,NA,NA,NA,NA
chr9,130941361,130941361,C,T,R007_S,CIZ1,Silent,NM_001131018,exon7,c.G1053A,p.V351V,SNP,SNVindel,exonic,CIZ1,NA,synonymous SNV,"CIZ1:NM_001131018:exon7:c.G1053A:p.V351V,CIZ1:NM_001257976:exon7:c.G822A:p.V274V,CIZ1:NM_001131015:exon8:c.G1125A:p.V375V,CIZ1:NM_001131016:exon8:c.G1125A:p.V375V,CIZ1:NM_001131017:exon8:c.G1110A:p.V370V,CIZ1:NM_001257975:exon8:c.G1215A:p.V405V,CIZ1:NM_012127:exon8:c.G1125A:p.V375V",NA,NA,NA,NA,NA,NA
chr9,130984517,130984517,G,A,R007_S,DNM1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,DNM1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr9,131022894,131022894,C,T,R007_S,GOLGA2,Silent,NM_001366246,exon17,c.G1491A,p.R497R,SNP,SNVindel,exonic,GOLGA2,NA,synonymous SNV,"GOLGA2:NM_001366246:exon17:c.G1491A:p.R497R,GOLGA2:NM_004486:exon17:c.G1491A:p.R497R,GOLGA2:NM_001366244:exon18:c.G1572A:p.R524R",NA,NA,NA,NA,NA,NA
chr9,131105554,131105554,C,T,R007_S,SLC27A4,Missense_Mutation,NM_005094,exon2,c.C143T,p.T48I,SNP,SNVindel,exonic,SLC27A4,NA,nonsynonymous SNV,SLC27A4:NM_005094:exon2:c.C143T:p.T48I,D,D,D,T,D,T
chr9,131190666,131190666,G,A,R007_S,CERCAM,Silent,NM_001286760,exon6,c.G618A,p.R206R,SNP,SNVindel,exonic,CERCAM,NA,synonymous SNV,"CERCAM:NM_001286760:exon6:c.G618A:p.R206R,CERCAM:NM_016174:exon6:c.G852A:p.R284R",NA,NA,NA,NA,NA,NA
chr9,131295901,131295901,C,T,R007_S,GLE1,Silent,NM_001003722,exon10,c.C1422T,p.D474D,SNP,SNVindel,exonic,GLE1,NA,synonymous SNV,"GLE1:NM_001003722:exon10:c.C1422T:p.D474D,GLE1:NM_001499:exon10:c.C1422T:p.D474D",NA,NA,NA,NA,NA,NA
chr9,131481981,131481981,C,T,R007_S,PKN3,Silent,NM_001317926,exon19,c.C2142T,p.D714D,SNP,SNVindel,exonic,PKN3,NA,synonymous SNV,"PKN3:NM_001317926:exon19:c.C2142T:p.D714D,PKN3:NM_013355:exon19:c.C2142T:p.D714D",NA,NA,NA,NA,NA,NA
chr9,131515665,131515665,C,T,R007_S,ZER1,Missense_Mutation,NM_006336,exon4,c.G524A,p.S175N,SNP,SNVindel,exonic,ZER1,NA,nonsynonymous SNV,ZER1:NM_006336:exon4:c.G524A:p.S175N,T,D,D,T,N,T
chr9,131709093,131709093,C,T,R007_S,DOLK,Missense_Mutation,NM_014908,exon1,c.G490A,p.V164M,SNP,SNVindel,exonic,DOLK,NA,nonsynonymous SNV,DOLK:NM_014908:exon1:c.G490A:p.V164M,D,D,D,D,N,D
chr9,132569581,132569581,C,T,R007_S,TOR1B,Silent,NM_001317893,exon3,c.C580T,p.L194L,SNP,SNVindel,exonic,TOR1B,NA,synonymous SNV,"TOR1B:NM_001317893:exon3:c.C580T:p.L194L,TOR1B:NM_014506:exon3:c.C580T:p.L194L",NA,NA,NA,NA,NA,NA
chr9,132594186,132594186,C,T,R007_S,C9orf78,Silent,NM_016520,exon5,c.G333A,p.E111E,SNP,SNVindel,exonic,C9orf78,NA,synonymous SNV,C9orf78:NM_016520:exon5:c.G333A:p.E111E,NA,NA,NA,NA,NA,NA
chr9,132890991,132890991,C,T,R007_S,GPR107,Missense_Mutation,NM_001287346,exon17,c.C946T,p.P316S,SNP,SNVindel,exonic,GPR107,NA,nonsynonymous SNV,"GPR107:NM_001287346:exon17:c.C946T:p.P316S,GPR107:NM_020960:exon17:c.C1513T:p.P505S,GPR107:NM_001136558:exon18:c.C1570T:p.P524S,GPR107:NM_001136557:exon19:c.C1657T:p.P553S",D,D,D,T,D,T
chr9,133065860,133065860,C,T,R007_S,HMCN2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,HMCN2,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr9,133266855,133266855,C,T,R007_S,HMCN2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,HMCN2,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr9,133307936,133307936,G,A,R007_S,HMCN2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,HMCN2,NA,unknown,UNKNOWN,.,.,.,.,.,T
chr9,133307939,133307939,C,T,R007_S,HMCN2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,HMCN2,NA,unknown,UNKNOWN,.,.,.,.,.,D
chr9,133748312,133748312,G,A,R007_S,ABL1,Missense_Mutation,NM_005157,exon6,c.G973A,p.D325N,SNP,SNVindel,exonic,ABL1,NA,nonsynonymous SNV,"ABL1:NM_005157:exon6:c.G973A:p.D325N,ABL1:NM_007313:exon6:c.G1030A:p.D344N",D,D,D,T,D,T
chr9,133760750,133760750,G,A,R007_S,ABL1,Missense_Mutation,NM_005157,exon11,c.G3073A,p.G1025S,SNP,SNVindel,exonic,ABL1,NA,nonsynonymous SNV,"ABL1:NM_005157:exon11:c.G3073A:p.G1025S,ABL1:NM_007313:exon11:c.G3130A:p.G1044S",T,D,D,T,N,T
chr9,133761004,133761004,G,A,R007_S,ABL1,Silent,NM_005157,exon11,c.G3327A,p.A1109A,SNP,SNVindel,exonic,ABL1,NA,synonymous SNV,"ABL1:NM_005157:exon11:c.G3327A:p.A1109A,ABL1:NM_007313:exon11:c.G3384A:p.A1128A",NA,NA,NA,NA,NA,NA
chr9,134073139,134073139,G,A,R007_S,NUP214,Missense_Mutation,NM_001318325,exon4,c.G736A,p.G246R,SNP,SNVindel,exonic,NUP214,NA,nonsynonymous SNV,"NUP214:NM_001318325:exon4:c.G736A:p.G246R,NUP214:NM_001318324:exon29:c.G4228A:p.G1410R,NUP214:NM_005085:exon29:c.G4258A:p.G1420R",D,N,N,T,N,T
chr9,134351154,134351154,G,A,R007_S,PRRC2B,Missense_Mutation,NM_013318,exon15,c.G3638A,p.G1213E,SNP,SNVindel,exonic,PRRC2B,NA,nonsynonymous SNV,PRRC2B:NM_013318:exon15:c.G3638A:p.G1213E,D,.,D,T,N,T
chr9,134351408,134351408,C,T,R007_S,PRRC2B,Missense_Mutation,NM_013318,exon15,c.C3892T,p.P1298S,SNP,SNVindel,exonic,PRRC2B,NA,nonsynonymous SNV,PRRC2B:NM_013318:exon15:c.C3892T:p.P1298S,T,.,D,T,D,T
chr9,134525563,134525563,C,T,R007_S,RAPGEF1,Missense_Mutation,NM_001304275,exon3,c.G268A,p.E90K,SNP,SNVindel,exonic,RAPGEF1,NA,nonsynonymous SNV,"RAPGEF1:NM_001304275:exon3:c.G268A:p.E90K,RAPGEF1:NM_005312:exon3:c.G217A:p.E73K,RAPGEF1:NM_198679:exon3:c.G271A:p.E91K",T,N,N,T,N,T
chr9,135158703,135158703,G,A,R007_S,SETX,Missense_Mutation,NM_001351527,exon19,c.C6494T,p.S2165F,SNP,SNVindel,exonic,SETX,NA,nonsynonymous SNV,"SETX:NM_001351527:exon19:c.C6494T:p.S2165F,SETX:NM_001351528:exon19:c.C6494T:p.S2165F,SETX:NM_015046:exon19:c.C6494T:p.S2165F",D,N,D,D,D,D
chr9,135277288,135277288,C,T,R007_S,TTF1,Missense_Mutation,NM_007344,exon2,c.G921A,p.M307I,SNP,SNVindel,exonic,TTF1,NA,nonsynonymous SNV,TTF1:NM_007344:exon2:c.G921A:p.M307I,T,.,N,T,N,T
chr9,135866371,135866371,C,A,R007_S,GFI1B,Nonsense_Mutation,NM_001135031,exon6,c.C789A,p.C263X,SNP,SNVindel,exonic,GFI1B,NA,stopgain,"GFI1B:NM_001135031:exon6:c.C789A:p.C263X,GFI1B:NM_004188:exon11:c.C927A:p.C309X",.,D,D,.,.,.
chr9,135932207,135932207,G,A,R007_S,GTF3C5,Silent,NM_001286709,exon8,c.G783A,p.R261R,SNP,SNVindel,exonic,GTF3C5,NA,synonymous SNV,"GTF3C5:NM_001286709:exon8:c.G783A:p.R261R,GTF3C5:NM_012087:exon10:c.G1305A:p.R435R,GTF3C5:NM_001122823:exon11:c.G1326A:p.R442R",NA,NA,NA,NA,NA,NA
chr9,135942258,135942258,C,T,R007_S,CEL,Nonsense_Mutation,NM_001807,exon6,c.C703T,p.R235X,SNP,SNVindel,exonic,CEL,NA,stopgain,CEL:NM_001807:exon6:c.C703T:p.R235X,.,D,A,.,.,.
chr9,135947058,135947058,C,T,R007_S,CEL,Silent,NM_001807,exon11,c.C2169T,p.P723P,SNP,SNVindel,exonic,CEL,NA,synonymous SNV,CEL:NM_001807:exon11:c.C2169T:p.P723P,NA,NA,NA,NA,NA,NA
chr9,136131518,136131518,G,A,R007_S,ABO,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ABO,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr9,136529053,136529053,C,T,R007_S,SARDH,Silent,NM_001134707,exon21,c.G2715A,p.S905S,SNP,SNVindel,exonic,SARDH,NA,synonymous SNV,"SARDH:NM_001134707:exon21:c.G2715A:p.S905S,SARDH:NM_007101:exon21:c.G2715A:p.S905S",NA,NA,NA,NA,NA,NA
chr9,136917469,136917469,C,T,R007_S,BRD3,Missense_Mutation,NM_007371,exon3,c.G310A,p.D104N,SNP,SNVindel,exonic,BRD3,NA,nonsynonymous SNV,BRD3:NM_007371:exon3:c.G310A:p.D104N,D,D,D,T,D,D
chr9,137007840,137007840,C,T,R007_S,WDR5,Missense_Mutation,NM_052821,exon6,c.C527T,p.A176V,SNP,SNVindel,exonic,WDR5,NA,nonsynonymous SNV,"WDR5:NM_052821:exon6:c.C527T:p.A176V,WDR5:NM_017588:exon7:c.C527T:p.A176V",D,D,D,T,D,T
chr9,137623407,137623407,G,A,R007_S,COL5A1,Silent,NM_000093,exon8,c.G1230A,p.R410R,SNP,SNVindel,exonic,COL5A1,NA,synonymous SNV,"COL5A1:NM_000093:exon8:c.G1230A:p.R410R,COL5A1:NM_001278074:exon8:c.G1230A:p.R410R",NA,NA,NA,NA,NA,NA
chr9,137645696,137645696,G,A,R007_S,COL5A1,Missense_Mutation,NM_000093,exon15,c.G1720A,p.G574S,SNP,SNVindel,exonic,COL5A1,NA,nonsynonymous SNV,"COL5A1:NM_000093:exon15:c.G1720A:p.G574S,COL5A1:NM_001278074:exon15:c.G1720A:p.G574S",D,U,D,D,D,D
chr9,138590262,138590262,C,T,R007_S,SOHLH1,Silent,NM_001012415,exon3,c.G258A,p.R86R,SNP,SNVindel,exonic,SOHLH1,NA,synonymous SNV,"SOHLH1:NM_001012415:exon3:c.G258A:p.R86R,SOHLH1:NM_001101677:exon3:c.G258A:p.R86R",NA,NA,NA,NA,NA,NA
chr9,138606500,138606500,C,T,R007_S,KCNT1,Missense_Mutation,NM_020822,exon2,c.C188T,p.P63L,SNP,SNVindel,exonic,KCNT1,NA,nonsynonymous SNV,KCNT1:NM_020822:exon2:c.C188T:p.P63L,D,U,D,T,D,T
chr9,138669292,138669292,C,T,R007_S,KCNT1,Missense_Mutation,NM_001272003,exon20,c.C2323T,p.P775S,SNP,SNVindel,exonic,KCNT1,NA,nonsynonymous SNV,"KCNT1:NM_001272003:exon20:c.C2323T:p.P775S,KCNT1:NM_020822:exon21:c.C2458T:p.P820S",T,U,D,T,D,D
chr9,139258758,139258758,G,A,R007_S,CARD9,Missense_Mutation,NM_052813,exon13,c.C1607T,p.S536F,SNP,SNVindel,exonic,CARD9,NA,nonsynonymous SNV,CARD9:NM_052813:exon13:c.C1607T:p.S536F,D,N,D,T,N,T
chr9,139272446,139272446,C,T,R007_S,SNAPC4,Missense_Mutation,NM_003086,exon21,c.G3833A,p.G1278D,SNP,SNVindel,exonic,SNAPC4,NA,nonsynonymous SNV,SNAPC4:NM_003086:exon21:c.G3833A:p.G1278D,T,N,N,T,N,T
chr9,139289834,139289834,C,T,R007_S,SNAPC4,Silent,NM_003086,exon4,c.G387A,p.K129K,SNP,SNVindel,exonic,SNAPC4,NA,synonymous SNV,SNAPC4:NM_003086:exon4:c.G387A:p.K129K,NA,NA,NA,NA,NA,NA
chr9,139327522,139327522,C,T,R007_S,INPP5E,Missense_Mutation,NM_001318502,exon5,c.G1165A,p.E389K,SNP,SNVindel,exonic,INPP5E,NA,nonsynonymous SNV,"INPP5E:NM_001318502:exon5:c.G1165A:p.E389K,INPP5E:NM_019892:exon5:c.G1165A:p.E389K",D,D,D,T,D,T
chr9,139390774,139390774,C,T,R007_S,NOTCH1,Missense_Mutation,NM_017617,exon34,c.G7417A,p.V2473I,SNP,SNVindel,exonic,NOTCH1,NA,nonsynonymous SNV,NOTCH1:NM_017617:exon34:c.G7417A:p.V2473I,T,N,N,D,N,T
chr9,139649868,139649868,G,A,R007_S,LCN8,Silent,NM_001345934,exon4,c.C396T,p.Y132Y,SNP,SNVindel,exonic,LCN8,NA,synonymous SNV,"LCN8:NM_001345934:exon4:c.C396T:p.Y132Y,LCN8:NM_178469:exon4:c.C327T:p.Y109Y",NA,NA,NA,NA,NA,NA
chr9,139694870,139694870,G,A,R007_S,CCDC183,Silent,NM_001039374,exon5,c.G468A,p.E156E,SNP,SNVindel,exonic,CCDC183,NA,synonymous SNV,CCDC183:NM_001039374:exon5:c.G468A:p.E156E,NA,NA,NA,NA,NA,NA
chr9,139960798,139960798,C,T,R007_S,SAPCD2,Silent,NM_178448,exon2,c.G600A,p.A200A,SNP,SNVindel,exonic,SAPCD2,NA,synonymous SNV,SAPCD2:NM_178448:exon2:c.G600A:p.A200A,NA,NA,NA,NA,NA,NA
chr9,139996064,139996064,G,A,R007_S,MAN1B1,Silent,NM_016219,exon8,c.G1194A,p.V398V,SNP,SNVindel,exonic,MAN1B1,NA,synonymous SNV,MAN1B1:NM_016219:exon8:c.G1194A:p.V398V,NA,NA,NA,NA,NA,NA
chr9,140063824,140063824,G,A,R007_S,LRRC26,Missense_Mutation,NM_001013653,exon1,c.C572T,p.P191L,SNP,SNVindel,exonic,LRRC26,NA,nonsynonymous SNV,LRRC26:NM_001013653:exon1:c.C572T:p.P191L,D,D,D,T,D,T
chr9,140146335,140146335,C,T,R007_S,STPG3,Silent,NM_001004353,exon2,c.C256T,p.L86L,SNP,SNVindel,exonic,STPG3,NA,synonymous SNV,"STPG3:NM_001004353:exon2:c.C256T:p.L86L,STPG3:NM_001256699:exon2:c.C256T:p.L86L,STPG3:NM_001256700:exon2:c.C256T:p.L86L,STPG3:NM_001256701:exon2:c.C256T:p.L86L",NA,NA,NA,NA,NA,NA
chr9,140331460,140331460,G,A,R007_S,ENTPD8,Missense_Mutation,NM_001033113,exon5,c.C416T,p.A139V,SNP,SNVindel,exonic,ENTPD8,NA,nonsynonymous SNV,"ENTPD8:NM_001033113:exon5:c.C416T:p.A139V,ENTPD8:NM_198585:exon5:c.C416T:p.A139V",D,N,D,T,D,T
chr9,140344070,140344070,G,A,R007_S,NSMF,Silent,NM_001130971,exon13,c.C1401T,p.P467P,SNP,SNVindel,exonic,NSMF,NA,synonymous SNV,"NSMF:NM_001130971:exon13:c.C1401T:p.P467P,NSMF:NM_001130970:exon14:c.C1407T:p.P469P,NSMF:NM_001178064:exon14:c.C1386T:p.P462P,NSMF:NM_015537:exon14:c.C1470T:p.P490P,NSMF:NM_001130969:exon15:c.C1476T:p.P492P",NA,NA,NA,NA,NA,NA
chr9,140811724,140811724,C,T,R007_S,CACNA1B,Silent,NM_000718,exon6,c.C807T,p.G269G,SNP,SNVindel,exonic,CACNA1B,NA,synonymous SNV,"CACNA1B:NM_000718:exon6:c.C807T:p.G269G,CACNA1B:NM_001243812:exon6:c.C807T:p.G269G",NA,NA,NA,NA,NA,NA
chr10,409150,409150,C,T,R007_S,DIP2C,Missense_Mutation,NM_014974,exon21,c.G2579A,p.S860N,SNP,SNVindel,exonic,DIP2C,NA,nonsynonymous SNV,DIP2C:NM_014974:exon21:c.G2579A:p.S860N,D,D,D,T,D,T
chr10,1229246,1229246,C,T,R007_S,ADARB2,Missense_Mutation,NM_018702,exon10,c.G2107A,p.A703T,SNP,SNVindel,exonic,ADARB2,NA,nonsynonymous SNV,ADARB2:NM_018702:exon10:c.G2107A:p.A703T,D,D,D,D,D,D
chr10,5789970,5789970,C,T,R007_S,TASOR2,Missense_Mutation,NM_001321785,exon15,c.C4343T,p.A1448V,SNP,SNVindel,exonic,TASOR2,NA,nonsynonymous SNV,"TASOR2:NM_001321785:exon15:c.C4343T:p.A1448V,TASOR2:NM_017782:exon15:c.C4586T:p.A1529V,TASOR2:NM_001321783:exon16:c.C4586T:p.A1529V,TASOR2:NM_001321784:exon16:c.C4586T:p.A1529V",D,N,N,T,N,T
chr10,5929931,5929931,C,T,R007_S,ANKRD16,Nonsense_Mutation,NM_001009941,exon2,c.G414A,p.W138X,SNP,SNVindel,exonic,ANKRD16,NA,stopgain,"ANKRD16:NM_001009941:exon2:c.G414A:p.W138X,ANKRD16:NM_001009943:exon2:c.G414A:p.W138X,ANKRD16:NM_019046:exon2:c.G414A:p.W138X",.,D,A,.,.,.
chr10,6067807,6067807,G,A,R007_S,IL2RA,Silent,NM_000417,exon2,c.C246T,p.C82C,SNP,SNVindel,exonic,IL2RA,NA,synonymous SNV,"IL2RA:NM_000417:exon2:c.C246T:p.C82C,IL2RA:NM_001308242:exon2:c.C246T:p.C82C,IL2RA:NM_001308243:exon2:c.C246T:p.C82C",NA,NA,NA,NA,NA,NA
chr10,11505298,11505298,C,T,R007_S,USP6NL,Silent,NM_001080491,exon14,c.G1680A,p.K560K,SNP,SNVindel,exonic,USP6NL,NA,synonymous SNV,"USP6NL:NM_001080491:exon14:c.G1680A:p.K560K,USP6NL:NM_014688:exon15:c.G1629A:p.K543K",NA,NA,NA,NA,NA,NA
chr10,13228207,13228207,G,A,R007_S,MCM10,Missense_Mutation,NM_018518,exon9,c.G1142A,p.G381D,SNP,SNVindel,exonic,MCM10,NA,nonsynonymous SNV,"MCM10:NM_018518:exon9:c.G1142A:p.G381D,MCM10:NM_182751:exon9:c.G1145A:p.G382D",D,D,D,D,D,D
chr10,15719605,15719605,C,T,R007_S,ITGA8,Missense_Mutation,NM_001291494,exon6,c.G662A,p.S221N,SNP,SNVindel,exonic,ITGA8,NA,nonsynonymous SNV,"ITGA8:NM_001291494:exon6:c.G662A:p.S221N,ITGA8:NM_003638:exon6:c.G662A:p.S221N",D,D,D,T,N,D
chr10,18803918,18803918,C,T,R007_S,CACNB2,Missense_Mutation,NM_201572,exon7,c.C596T,p.S199F,SNP,SNVindel,exonic,CACNB2,NA,nonsynonymous SNV,"CACNB2:NM_201572:exon7:c.C596T:p.S199F,CACNB2:NM_201597:exon7:c.C680T:p.S227F",D,.,D,D,N,T
chr10,19376970,19376970,C,T,R007_S,MALRD1,Silent,NM_001142308,exon4,c.C453T,p.F151F,SNP,SNVindel,exonic,MALRD1,NA,synonymous SNV,MALRD1:NM_001142308:exon4:c.C453T:p.F151F,NA,NA,NA,NA,NA,NA
chr10,28233184,28233184,C,T,R007_S,ARMC4,Silent,NM_001290021,exon5,c.G285A,p.R95R,SNP,SNVindel,exonic,ARMC4,NA,synonymous SNV,"ARMC4:NM_001290021:exon5:c.G285A:p.R95R,ARMC4:NM_001312689:exon7:c.G786A:p.R262R,ARMC4:NM_001290020:exon12:c.G1710A:p.R570R,ARMC4:NM_018076:exon12:c.G1710A:p.R570R",NA,NA,NA,NA,NA,NA
chr10,30315053,30315053,C,T,R007_S,JCAD,Missense_Mutation,NM_020848,exon3,c.G4024A,p.D1342N,SNP,SNVindel,exonic,JCAD,NA,nonsynonymous SNV,"JCAD:NM_020848:exon3:c.G4024A:p.D1342N,JCAD:NM_001350001:exon4:c.G3610A:p.D1204N,JCAD:NM_001350021:exon4:c.G3610A:p.D1204N,JCAD:NM_001350022:exon4:c.G4024A:p.D1342N",T,N,N,T,N,T
chr10,30317290,30317290,C,T,R007_S,JCAD,Missense_Mutation,NM_020848,exon3,c.G1787A,p.R596K,SNP,SNVindel,exonic,JCAD,NA,nonsynonymous SNV,"JCAD:NM_020848:exon3:c.G1787A:p.R596K,JCAD:NM_001350001:exon4:c.G1373A:p.R458K,JCAD:NM_001350021:exon4:c.G1373A:p.R458K,JCAD:NM_001350022:exon4:c.G1787A:p.R596K",T,N,N,T,N,T
chr10,32560502,32560502,G,A,R007_S,EPC1,Silent,NM_001272004,exon13,c.C2349T,p.S783S,SNP,SNVindel,exonic,EPC1,NA,synonymous SNV,"EPC1:NM_001272004:exon13:c.C2349T:p.S783S,EPC1:NM_001272019:exon13:c.C2136T:p.S712S,EPC1:NM_001282391:exon13:c.C2199T:p.S733S,EPC1:NM_025209:exon14:c.C2418T:p.S806S",NA,NA,NA,NA,NA,NA
chr10,38343985,38343985,G,A,R007_S,ZNF33A,Silent,NM_001278170,exon4,c.G951A,p.R317R,SNP,SNVindel,exonic,ZNF33A,NA,synonymous SNV,"ZNF33A:NM_001278170:exon4:c.G951A:p.R317R,ZNF33A:NM_001324178:exon4:c.G954A:p.R318R,ZNF33A:NM_001278177:exon5:c.G996A:p.R332R,ZNF33A:NM_001278178:exon5:c.G597A:p.R199R,ZNF33A:NM_001324176:exon5:c.G597A:p.R199R,ZNF33A:NM_006954:exon5:c.G933A:p.R311R,ZNF33A:NM_006974:exon5:c.G930A:p.R310R,ZNF33A:NM_001278171:exon6:c.G597A:p.R199R,ZNF33A:NM_001278173:exon6:c.G987A:p.R329R,ZNF33A:NM_001278174:exon6:c.G597A:p.R199R,ZNF33A:NM_001278175:exon6:c.G699A:p.R233R,ZNF33A:NM_001278176:exon6:c.G804A:p.R268R,ZNF33A:NM_001278179:exon6:c.G597A:p.R199R,ZNF33A:NM_001324175:exon6:c.G597A:p.R199R,ZNF33A:NM_001324177:exon6:c.G597A:p.R199R",NA,NA,NA,NA,NA,NA
chr10,45496244,45496244,G,A,R007_S,C10orf25,Missense_Mutation,NM_001039380,exon1,c.C64T,p.P22S,SNP,SNVindel,exonic,C10orf25,NA,nonsynonymous SNV,C10orf25:NM_001039380:exon1:c.C64T:p.P22S,NA,NA,NA,NA,NA,NA
chr10,48413829,48413829,C,T,R007_S,GDF2,Missense_Mutation,NM_016204,exon2,c.G1039A,p.A347T,SNP,SNVindel,exonic,GDF2,NA,nonsynonymous SNV,GDF2:NM_016204:exon2:c.G1039A:p.A347T,.,.,.,.,.,.
chr10,48429178,48429178,C,T,R007_S,GDF10,Silent,NM_004962,exon2,c.G708A,p.R236R,SNP,SNVindel,exonic,GDF10,NA,synonymous SNV,GDF10:NM_004962:exon2:c.G708A:p.R236R,NA,NA,NA,NA,NA,NA
chr10,50022092,50022092,C,T,R007_S,WDFY4,Missense_Mutation,NM_020945,exon31,c.C5305T,p.L1769F,SNP,SNVindel,exonic,WDFY4,NA,nonsynonymous SNV,WDFY4:NM_020945:exon31:c.C5305T:p.L1769F,D,N,D,T,D,T
chr10,50531384,50531384,G,A,R007_S,C10orf71,Missense_Mutation,NM_001135196,exon3,c.G794A,p.G265D,SNP,SNVindel,exonic,C10orf71,NA,nonsynonymous SNV,C10orf71:NM_001135196:exon3:c.G794A:p.G265D,D,N,N,T,N,T
chr10,53458796,53458796,G,A,R007_S,CSTF2T,Silent,NM_015235,exon1,c.C514T,p.L172L,SNP,SNVindel,exonic,CSTF2T,NA,synonymous SNV,CSTF2T:NM_015235:exon1:c.C514T:p.L172L,NA,NA,NA,NA,NA,NA
chr10,54041941,54041941,G,A,R007_S,PRKG1,Missense_Mutation,NM_001098512,exon14,c.G1529A,p.G510E,SNP,SNVindel,exonic,PRKG1,NA,nonsynonymous SNV,"PRKG1:NM_001098512:exon14:c.G1529A:p.G510E,PRKG1:NM_006258:exon14:c.G1574A:p.G525E",T,D,D,T,N,T
chr10,62648215,62648215,G,A,R007_S,RHOBTB1,Missense_Mutation,NM_001350910,exon5,c.C851T,p.A284V,SNP,SNVindel,exonic,RHOBTB1,NA,nonsynonymous SNV,"RHOBTB1:NM_001350910:exon5:c.C851T:p.A284V,RHOBTB1:NM_001350904:exon6:c.C1211T:p.A404V,RHOBTB1:NM_001350905:exon6:c.C1211T:p.A404V,RHOBTB1:NM_014836:exon6:c.C1211T:p.A404V,RHOBTB1:NM_001242359:exon7:c.C1211T:p.A404V,RHOBTB1:NM_001350902:exon7:c.C1211T:p.A404V,RHOBTB1:NM_001350903:exon7:c.C1211T:p.A404V,RHOBTB1:NM_001350908:exon7:c.C851T:p.A284V,RHOBTB1:NM_001350909:exon7:c.C851T:p.A284V,RHOBTB1:NM_001350911:exon7:c.C851T:p.A284V,RHOBTB1:NM_001350906:exon8:c.C851T:p.A284V,RHOBTB1:NM_001350907:exon8:c.C851T:p.A284V",T,N,N,T,N,T
chr10,64148224,64148224,C,T,R007_S,ZNF365,Silent,NM_014951,exon3,c.C813T,p.L271L,SNP,SNVindel,exonic,ZNF365,NA,synonymous SNV,"ZNF365:NM_014951:exon3:c.C813T:p.L271L,ZNF365:NM_199450:exon3:c.C813T:p.L271L,ZNF365:NM_199451:exon3:c.C813T:p.L271L",NA,NA,NA,NA,NA,NA
chr10,68686859,68686859,G,A,R007_S,LRRTM3,Missense_Mutation,NM_178011,exon2,c.G185A,p.G62D,SNP,SNVindel,exonic,LRRTM3,NA,nonsynonymous SNV,LRRTM3:NM_178011:exon2:c.G185A:p.G62D,D,D,D,T,D,T
chr10,70276571,70276571,C,T,R007_S,SLC25A16,Missense_Mutation,NM_001324312,exon2,c.G160A,p.V54I,SNP,SNVindel,exonic,SLC25A16,NA,nonsynonymous SNV,"SLC25A16:NM_001324312:exon2:c.G160A:p.V54I,SLC25A16:NM_001324313:exon2:c.G160A:p.V54I,SLC25A16:NM_152707:exon2:c.G160A:p.V54I",.,D,D,.,.,T
chr10,70451238,70451238,G,A,R007_S,TET1,Silent,NM_030625,exon12,c.G6078A,p.E2026E,SNP,SNVindel,exonic,TET1,NA,synonymous SNV,TET1:NM_030625:exon12:c.G6078A:p.E2026E,NA,NA,NA,NA,NA,NA
chr10,70482296,70482296,G,A,R007_S,CCAR1,Nonsense_Mutation,NM_001282959,exon2,c.G35A,p.W12X,SNP,SNVindel,exonic,CCAR1,NA,stopgain,"CCAR1:NM_001282959:exon2:c.G35A:p.W12X,CCAR1:NM_001282960:exon2:c.G35A:p.W12X,CCAR1:NM_018237:exon2:c.G35A:p.W12X",.,D,A,.,.,.
chr10,70644739,70644739,C,T,R007_S,STOX1,Missense_Mutation,NM_001130161,exon3,c.C1187T,p.S396F,SNP,SNVindel,exonic,STOX1,NA,nonsynonymous SNV,"STOX1:NM_001130161:exon3:c.C1187T:p.S396F,STOX1:NM_152709:exon3:c.C1187T:p.S396F",D,D,D,D,D,D
chr10,71211407,71211407,G,A,R007_S,TSPAN15,Nonsense_Mutation,NM_001351263,exon1,c.G57A,p.W19X,SNP,SNVindel,exonic,TSPAN15,NA,stopgain,"TSPAN15:NM_001351263:exon1:c.G57A:p.W19X,TSPAN15:NM_012339:exon1:c.G57A:p.W19X",.,D,A,.,.,.
chr10,71696513,71696513,G,A,R007_S,COL13A1,Missense_Mutation,NM_001368896,exon26,c.G1481A,p.G494E,SNP,SNVindel,exonic,COL13A1,NA,nonsynonymous SNV,"COL13A1:NM_001368896:exon26:c.G1481A:p.G494E,COL13A1:NM_001368897:exon27:c.G1508A:p.G503E,COL13A1:NM_080798:exon27:c.G1523A:p.G508E,COL13A1:NM_001368895:exon28:c.G1595A:p.G532E,COL13A1:NM_001368898:exon28:c.G1568A:p.G523E,COL13A1:NM_080805:exon28:c.G1541A:p.G514E,COL13A1:NM_001368885:exon29:c.G1586A:p.G529E,COL13A1:NM_001368883:exon30:c.G1649A:p.G550E,COL13A1:NM_001368884:exon30:c.G1622A:p.G541E,COL13A1:NM_001368886:exon30:c.G1064A:p.G355E,COL13A1:NM_080802:exon30:c.G1628A:p.G543E,COL13A1:NM_001320951:exon31:c.G1664A:p.G555E,COL13A1:NM_080800:exon31:c.G1682A:p.G561E,COL13A1:NM_080801:exon31:c.G1673A:p.G558E,COL13A1:NM_001130103:exon32:c.G1739A:p.G580E,COL13A1:NM_001368882:exon33:c.G1772A:p.G591E",D,D,D,D,D,D
chr10,72061132,72061132,C,T,R007_S,LRRC20,Missense_Mutation,NM_001278213,exon4,c.G383A,p.G128D,SNP,SNVindel,exonic,LRRC20,NA,nonsynonymous SNV,"LRRC20:NM_001278213:exon4:c.G383A:p.G128D,LRRC20:NM_001278214:exon4:c.G326A:p.G109D,LRRC20:NM_018205:exon4:c.G365A:p.G122D,LRRC20:NM_018239:exon4:c.G383A:p.G128D,LRRC20:NM_001278211:exon5:c.G533A:p.G178D,LRRC20:NM_001278212:exon5:c.G533A:p.G178D,LRRC20:NM_207119:exon5:c.G533A:p.G178D",T,N,N,T,N,T
chr10,72195619,72195619,G,A,R007_S,NODAL,Missense_Mutation,NM_018055,exon2,c.C314T,p.T105I,SNP,SNVindel,exonic,NODAL,NA,nonsynonymous SNV,NODAL:NM_018055:exon2:c.C314T:p.T105I,T,N,N,T,N,T
chr10,73111469,73111469,C,T,R007_S,SLC29A3,Silent,NM_001174098,exon4,c.C534T,p.A178A,SNP,SNVindel,exonic,SLC29A3,NA,synonymous SNV,"SLC29A3:NM_001174098:exon4:c.C534T:p.A178A,SLC29A3:NM_001363518:exon4:c.C300T:p.A100A,SLC29A3:NM_018344:exon4:c.C534T:p.A178A",NA,NA,NA,NA,NA,NA
chr10,73405672,73405672,G,A,R007_S,CDH23,Missense_Mutation,NM_001171930,exon12,c.G1225A,p.A409T,SNP,SNVindel,exonic,CDH23,NA,nonsynonymous SNV,"CDH23:NM_001171930:exon12:c.G1225A:p.A409T,CDH23:NM_001171931:exon12:c.G1225A:p.A409T,CDH23:NM_022124:exon12:c.G1225A:p.A409T,CDH23:NM_052836:exon12:c.G1225A:p.A409T",T,D,D,T,N,T
chr10,73464748,73464748,C,T,R007_S,CDH23,Silent,NM_001171930,exon24,c.C2814T,p.F938F,SNP,SNVindel,exonic,CDH23,NA,synonymous SNV,"CDH23:NM_001171930:exon24:c.C2814T:p.F938F,CDH23:NM_001171931:exon24:c.C2814T:p.F938F,CDH23:NM_022124:exon24:c.C2814T:p.F938F",NA,NA,NA,NA,NA,NA
chr10,73553133,73553133,G,A,R007_S,CDH23,Missense_Mutation,NM_022124,exon46,c.G6448A,p.G2150S,SNP,SNVindel,exonic,CDH23,NA,nonsynonymous SNV,CDH23:NM_022124:exon46:c.G6448A:p.G2150S,.,D,D,.,.,D
chr10,75184510,75184510,G,A,R007_S,MSS51,Missense_Mutation,NM_001024593,exon7,c.C1184T,p.S395F,SNP,SNVindel,exonic,MSS51,NA,nonsynonymous SNV,MSS51:NM_001024593:exon7:c.C1184T:p.S395F,D,D,D,T,D,T
chr10,75276220,75276220,G,A,R007_S,USP54,Silent,NM_001320437,exon18,c.C3793T,p.L1265L,SNP,SNVindel,exonic,USP54,NA,synonymous SNV,"USP54:NM_001320437:exon18:c.C3793T:p.L1265L,USP54:NM_001350995:exon18:c.C3673T:p.L1225L,USP54:NM_152586:exon18:c.C3964T:p.L1322L",NA,NA,NA,NA,NA,NA
chr10,75289542,75289542,G,A,R007_S,USP54,Silent,NM_001320437,exon13,c.C1785T,p.P595P,SNP,SNVindel,exonic,USP54,NA,synonymous SNV,"USP54:NM_001320437:exon13:c.C1785T:p.P595P,USP54:NM_152586:exon13:c.C1956T:p.P652P,USP54:NM_001350995:exon14:c.C1785T:p.P595P,USP54:NM_001320441:exon15:c.C1956T:p.P652P",NA,NA,NA,NA,NA,NA
chr10,75549178,75549178,G,A,R007_S,ZSWIM8,Missense_Mutation,NM_001242487,exon4,c.G511A,p.A171T,SNP,SNVindel,exonic,ZSWIM8,NA,nonsynonymous SNV,"ZSWIM8:NM_001242487:exon4:c.G511A:p.A171T,ZSWIM8:NM_001242488:exon4:c.G511A:p.A171T,ZSWIM8:NM_001367799:exon4:c.G511A:p.A171T,ZSWIM8:NM_015037:exon4:c.G511A:p.A171T",T,.,D,T,N,T
chr10,75608779,75608779,G,A,R007_S,CAMK2G,Missense_Mutation,NM_001367537,exon5,c.C197T,p.A66V,SNP,SNVindel,exonic,CAMK2G,NA,nonsynonymous SNV,"CAMK2G:NM_001367537:exon5:c.C197T:p.A66V,CAMK2G:NM_001367538:exon5:c.C197T:p.A66V,CAMK2G:NM_001367524:exon6:c.C263T:p.A88V,CAMK2G:NM_001367539:exon6:c.C263T:p.A88V,CAMK2G:NM_001204492:exon7:c.C509T:p.A170V,CAMK2G:NM_001222:exon7:c.C509T:p.A170V,CAMK2G:NM_001320898:exon7:c.C509T:p.A170V,CAMK2G:NM_001367514:exon7:c.C485T:p.A162V,CAMK2G:NM_001367516:exon7:c.C509T:p.A170V,CAMK2G:NM_001367517:exon7:c.C509T:p.A170V,CAMK2G:NM_001367518:exon7:c.C509T:p.A170V,CAMK2G:NM_001367519:exon7:c.C509T:p.A170V,CAMK2G:NM_001367520:exon7:c.C509T:p.A170V,CAMK2G:NM_001367521:exon7:c.C509T:p.A170V,CAMK2G:NM_001367522:exon7:c.C509T:p.A170V,CAMK2G:NM_001367523:exon7:c.C509T:p.A170V,CAMK2G:NM_001367525:exon7:c.C485T:p.A162V,CAMK2G:NM_001367526:exon7:c.C509T:p.A170V,CAMK2G:NM_001367527:exon7:c.C509T:p.A170V,CAMK2G:NM_001367528:exon7:c.C509T:p.A170V,CAMK2G:NM_001367529:exon7:c.C509T:p.A170V,CAMK2G:NM_001367530:exon7:c.C509T:p.A170V,CAMK2G:NM_001367531:exon7:c.C509T:p.A170V,CAMK2G:NM_001367532:exon7:c.C485T:p.A162V,CAMK2G:NM_001367533:exon7:c.C509T:p.A170V,CAMK2G:NM_001367534:exon7:c.C509T:p.A170V,CAMK2G:NM_001367535:exon7:c.C509T:p.A170V,CAMK2G:NM_001367536:exon7:c.C509T:p.A170V,CAMK2G:NM_001367541:exon7:c.C509T:p.A170V,CAMK2G:NM_001367543:exon7:c.C509T:p.A170V,CAMK2G:NM_001367544:exon7:c.C509T:p.A170V,CAMK2G:NM_001367545:exon7:c.C509T:p.A170V,CAMK2G:NM_001367546:exon7:c.C509T:p.A170V,CAMK2G:NM_001367547:exon7:c.C509T:p.A170V,CAMK2G:NM_001367548:exon7:c.C509T:p.A170V,CAMK2G:NM_172169:exon7:c.C509T:p.A170V,CAMK2G:NM_172170:exon7:c.C509T:p.A170V,CAMK2G:NM_172171:exon7:c.C509T:p.A170V,CAMK2G:NM_172173:exon7:c.C509T:p.A170V",T,D,D,T,D,T
chr10,76789377,76789377,C,T,R007_S,KAT6B,Missense_Mutation,NM_001370135,exon10,c.C2452T,p.P818S,SNP,SNVindel,exonic,KAT6B,NA,nonsynonymous SNV,"KAT6B:NM_001370135:exon10:c.C2452T:p.P818S,KAT6B:NM_001370133:exon11:c.C3106T:p.P1036S,KAT6B:NM_001370134:exon12:c.C2710T:p.P904S,KAT6B:NM_001370143:exon15:c.C3730T:p.P1244S,KAT6B:NM_001370144:exon16:c.C3730T:p.P1244S,KAT6B:NM_001370132:exon17:c.C3757T:p.P1253S,KAT6B:NM_001370141:exon17:c.C3919T:p.P1307S,KAT6B:NM_001370142:exon17:c.C3919T:p.P1307S,KAT6B:NM_001256468:exon18:c.C4246T:p.P1416S,KAT6B:NM_001256469:exon18:c.C3919T:p.P1307S,KAT6B:NM_001370136:exon18:c.C4795T:p.P1599S,KAT6B:NM_001370137:exon18:c.C4795T:p.P1599S,KAT6B:NM_001370138:exon18:c.C4246T:p.P1416S,KAT6B:NM_001370139:exon18:c.C3919T:p.P1307S,KAT6B:NM_001370140:exon18:c.C3919T:p.P1307S,KAT6B:NM_012330:exon18:c.C4795T:p.P1599S",D,D,D,D,D,D
chr10,76789751,76789751,G,A,R007_S,KAT6B,Silent,NM_001370135,exon10,c.G2826A,p.Q942Q,SNP,SNVindel,exonic,KAT6B,NA,synonymous SNV,"KAT6B:NM_001370135:exon10:c.G2826A:p.Q942Q,KAT6B:NM_001370133:exon11:c.G3480A:p.Q1160Q,KAT6B:NM_001370134:exon12:c.G3084A:p.Q1028Q,KAT6B:NM_001370143:exon15:c.G4104A:p.Q1368Q,KAT6B:NM_001370144:exon16:c.G4104A:p.Q1368Q,KAT6B:NM_001370132:exon17:c.G4131A:p.Q1377Q,KAT6B:NM_001370141:exon17:c.G4293A:p.Q1431Q,KAT6B:NM_001370142:exon17:c.G4293A:p.Q1431Q,KAT6B:NM_001256468:exon18:c.G4620A:p.Q1540Q,KAT6B:NM_001256469:exon18:c.G4293A:p.Q1431Q,KAT6B:NM_001370136:exon18:c.G5169A:p.Q1723Q,KAT6B:NM_001370137:exon18:c.G5169A:p.Q1723Q,KAT6B:NM_001370138:exon18:c.G4620A:p.Q1540Q,KAT6B:NM_001370139:exon18:c.G4293A:p.Q1431Q,KAT6B:NM_001370140:exon18:c.G4293A:p.Q1431Q,KAT6B:NM_012330:exon18:c.G5169A:p.Q1723Q",NA,NA,NA,NA,NA,NA
chr10,76993969,76993969,C,T,R007_S,COMTD1,Silent,NM_144589,exon7,c.G651A,p.G217G,SNP,SNVindel,exonic,COMTD1,NA,synonymous SNV,COMTD1:NM_144589:exon7:c.G651A:p.G217G,NA,NA,NA,NA,NA,NA
chr10,82264508,82264508,G,A,R007_S,TSPAN14,Missense_Mutation,NM_001351269,exon3,c.G106A,p.V36I,SNP,SNVindel,exonic,TSPAN14,NA,nonsynonymous SNV,"TSPAN14:NM_001351269:exon3:c.G106A:p.V36I,TSPAN14:NM_030927:exon3:c.G106A:p.V36I,TSPAN14:NM_001351266:exon4:c.G106A:p.V36I,TSPAN14:NM_001351268:exon4:c.G106A:p.V36I,TSPAN14:NM_001351270:exon4:c.G106A:p.V36I,TSPAN14:NM_001351271:exon4:c.G106A:p.V36I,TSPAN14:NM_001351272:exon4:c.G106A:p.V36I,TSPAN14:NM_001351267:exon5:c.G106A:p.V36I",T,N,D,T,N,T
chr10,85957551,85957551,G,A,R007_S,CDHR1,Missense_Mutation,NM_001171971,exon4,c.G307A,p.E103K,SNP,SNVindel,exonic,CDHR1,NA,nonsynonymous SNV,"CDHR1:NM_001171971:exon4:c.G307A:p.E103K,CDHR1:NM_033100:exon4:c.G307A:p.E103K",D,D,D,T,N,T
chr10,85984216,85984216,G,A,R007_S,LRIT2,Silent,NM_001017924,exon2,c.C765T,p.I255I,SNP,SNVindel,exonic,LRIT2,NA,synonymous SNV,"LRIT2:NM_001017924:exon2:c.C765T:p.I255I,LRIT2:NM_001284223:exon2:c.C765T:p.I255I",NA,NA,NA,NA,NA,NA
chr10,86007362,86007362,G,A,R007_S,RGR,Missense_Mutation,NM_001012720,exon2,c.G95A,p.S32N,SNP,SNVindel,exonic,RGR,NA,nonsynonymous SNV,"RGR:NM_001012720:exon2:c.G95A:p.S32N,RGR:NM_001012722:exon2:c.G95A:p.S32N,RGR:NM_002921:exon2:c.G95A:p.S32N",D,N,D,T,N,T
chr10,90673040,90673040,G,A,R007_S,STAMBPL1,Silent,NM_020799,exon6,c.G603A,p.G201G,SNP,SNVindel,exonic,STAMBPL1,NA,synonymous SNV,STAMBPL1:NM_020799:exon6:c.G603A:p.G201G,NA,NA,NA,NA,NA,NA
chr10,93390220,93390220,G,A,R007_S,PPP1R3C,Nonsense_Mutation,NM_005398,exon2,c.C418T,p.Q140X,SNP,SNVindel,exonic,PPP1R3C,NA,stopgain,PPP1R3C:NM_005398:exon2:c.C418T:p.Q140X,.,D,D,.,.,.
chr10,94223551,94223551,G,A,R007_S,IDE,Silent,NM_001165946,exon11,c.C1033T,p.L345L,SNP,SNVindel,exonic,IDE,NA,synonymous SNV,"IDE:NM_001165946:exon11:c.C1033T:p.L345L,IDE:NM_001322797:exon11:c.C1033T:p.L345L,IDE:NM_001322794:exon20:c.C2581T:p.L861L,IDE:NM_001322793:exon21:c.C2698T:p.L900L,IDE:NM_001322796:exon21:c.C2575T:p.L859L,IDE:NM_004969:exon21:c.C2698T:p.L900L,IDE:NM_001322795:exon22:c.C2575T:p.L859L",NA,NA,NA,NA,NA,NA
chr10,94409729,94409729,G,A,R007_S,KIF11,Missense_Mutation,NM_004523,exon20,c.G2908A,p.E970K,SNP,SNVindel,exonic,KIF11,NA,nonsynonymous SNV,KIF11:NM_004523:exon20:c.G2908A:p.E970K,T,N,N,T,N,T
chr10,94828399,94828399,G,A,R007_S,CYP26C1,Missense_Mutation,NM_183374,exon6,c.G1514A,p.R505Q,SNP,SNVindel,exonic,CYP26C1,NA,nonsynonymous SNV,CYP26C1:NM_183374:exon6:c.G1514A:p.R505Q,T,N,N,T,N,T
chr10,95400290,95400290,G,A,R007_S,PDE6C,Silent,NM_006204,exon13,c.G1713A,p.G571G,SNP,SNVindel,exonic,PDE6C,NA,synonymous SNV,PDE6C:NM_006204:exon13:c.G1713A:p.G571G,NA,NA,NA,NA,NA,NA
chr10,96342787,96342787,G,A,R007_S,HELLS,Missense_Mutation,NM_001289073,exon11,c.G883A,p.E295K,SNP,SNVindel,exonic,HELLS,NA,nonsynonymous SNV,"HELLS:NM_001289073:exon11:c.G883A:p.E295K,HELLS:NM_001289075:exon11:c.G79A:p.E27K,HELLS:NM_001289067:exon12:c.G1297A:p.E433K,HELLS:NM_001289068:exon12:c.G1249A:p.E417K,HELLS:NM_001289069:exon12:c.G1201A:p.E401K,HELLS:NM_018063:exon12:c.G1297A:p.E433K,HELLS:NM_001289071:exon13:c.G925A:p.E309K,HELLS:NM_001289074:exon13:c.G214A:p.E72K",T,D,D,D,N,D
chr10,96741032,96741032,G,A,R007_S,CYP2C9,Missense_Mutation,NM_000771,exon7,c.G1054A,p.V352M,SNP,SNVindel,exonic,CYP2C9,NA,nonsynonymous SNV,CYP2C9:NM_000771:exon7:c.G1054A:p.V352M,D,U,N,T,N,T
chr10,96802659,96802659,G,A,R007_S,CYP2C8,Silent,NM_001198854,exon6,c.C831T,p.Y277Y,SNP,SNVindel,exonic,CYP2C8,NA,synonymous SNV,"CYP2C8:NM_001198854:exon6:c.C831T:p.Y277Y,CYP2C8:NM_000770:exon7:c.C1137T:p.Y379Y,CYP2C8:NM_001198853:exon7:c.C927T:p.Y309Y,CYP2C8:NM_001198855:exon8:c.C927T:p.Y309Y",NA,NA,NA,NA,NA,NA
chr10,97791733,97791733,G,A,R007_S,CC2D2B,Missense_Mutation,NM_001001732,exon9,c.G937A,p.V313I,SNP,SNVindel,exonic,CC2D2B,NA,nonsynonymous SNV,"CC2D2B:NM_001001732:exon9:c.G937A:p.V313I,CC2D2B:NM_001159747:exon12:c.G1174A:p.V392I,CC2D2B:NM_001349008:exon35:c.G4282A:p.V1428I",T,.,D,D,N,T
chr10,97975099,97975099,G,A,R007_S,BLNK,Silent,NM_001258440,exon8,c.C654T,p.A218A,SNP,SNVindel,exonic,BLNK,NA,synonymous SNV,"BLNK:NM_001258440:exon8:c.C654T:p.A218A,BLNK:NM_013314:exon8:c.C654T:p.A218A",NA,NA,NA,NA,NA,NA
chr10,98408550,98408550,G,A,R007_S,PIK3AP1,Missense_Mutation,NM_152309,exon7,c.C1051T,p.L351F,SNP,SNVindel,exonic,PIK3AP1,NA,nonsynonymous SNV,PIK3AP1:NM_152309:exon7:c.C1051T:p.L351F,D,D,D,T,D,T
chr10,98743602,98743602,G,A,R007_S,LCOR,Missense_Mutation,NM_001346516,exon8,c.G3385A,p.E1129K,SNP,SNVindel,exonic,LCOR,NA,nonsynonymous SNV,LCOR:NM_001346516:exon8:c.G3385A:p.E1129K,D,N,D,T,D,T
chr10,99640148,99640148,G,A,R007_S,CRTAC1,Silent,NM_001206528,exon14,c.C1677T,p.D559D,SNP,SNVindel,exonic,CRTAC1,NA,synonymous SNV,"CRTAC1:NM_001206528:exon14:c.C1677T:p.D559D,CRTAC1:NM_018058:exon14:c.C1677T:p.D559D",D,.,D,T,N,T
chr10,99644026,99644026,G,A,R007_S,CRTAC1,Silent,NM_001206528,exon12,c.C1569T,p.N523N,SNP,SNVindel,exonic,CRTAC1,NA,synonymous SNV,"CRTAC1:NM_001206528:exon12:c.C1569T:p.N523N,CRTAC1:NM_018058:exon12:c.C1569T:p.N523N",NA,NA,NA,NA,NA,NA
chr10,99969507,99969507,C,T,R007_S,R3HCC1L,Missense_Mutation,NM_001351016,exon2,c.C1636T,p.P546S,SNP,SNVindel,exonic,R3HCC1L,NA,nonsynonymous SNV,"R3HCC1L:NM_001351016:exon2:c.C1636T:p.P546S,R3HCC1L:NM_001351013:exon3:c.C1636T:p.P546S,R3HCC1L:NM_001256620:exon4:c.C1636T:p.P546S,R3HCC1L:NM_001351012:exon4:c.C1636T:p.P546S,R3HCC1L:NM_001351017:exon4:c.C1636T:p.P546S,R3HCC1L:NM_014472:exon4:c.C1636T:p.P546S,R3HCC1L:NM_001256619:exon5:c.C1636T:p.P546S,R3HCC1L:NM_001351015:exon5:c.C1636T:p.P546S,R3HCC1L:NM_138469:exon5:c.C1636T:p.P546S,R3HCC1L:NM_001351011:exon6:c.C1636T:p.P546S,R3HCC1L:NM_001351014:exon6:c.C1636T:p.P546S,R3HCC1L:NM_001351010:exon7:c.C1636T:p.P546S",T,N,N,T,N,T
chr10,101089810,101089810,G,A,R007_S,CNNM1,Silent,NM_001345887,exon1,c.G666A,p.A222A,SNP,SNVindel,exonic,CNNM1,NA,synonymous SNV,"CNNM1:NM_001345887:exon1:c.G666A:p.A222A,CNNM1:NM_001345888:exon1:c.G666A:p.A222A,CNNM1:NM_001345889:exon1:c.G666A:p.A222A,CNNM1:NM_020348:exon1:c.G666A:p.A222A",NA,NA,NA,NA,NA,NA
chr10,101166585,101166585,C,T,R007_S,GOT1,Missense_Mutation,NM_002079,exon3,c.G322A,p.G108R,SNP,SNVindel,exonic,GOT1,NA,nonsynonymous SNV,GOT1:NM_002079:exon3:c.G322A:p.G108R,D,D,D,T,N,D
chr10,101292963,101292963,G,A,R007_S,NKX2-3,Silent,NM_145285,exon1,c.G75A,p.Q25Q,SNP,SNVindel,exonic,NKX2-3,NA,synonymous SNV,NKX2-3:NM_145285:exon1:c.G75A:p.Q25Q,NA,NA,NA,NA,NA,NA
chr10,101715186,101715186,C,T,R007_S,DNMBP,Missense_Mutation,NM_015221,exon4,c.G2045A,p.G682E,SNP,SNVindel,exonic,DNMBP,NA,nonsynonymous SNV,DNMBP:NM_015221:exon4:c.G2045A:p.G682E,T,N,N,T,N,T
chr10,101716962,101716962,C,T,R007_S,DNMBP,Missense_Mutation,NM_015221,exon4,c.G269A,p.G90D,SNP,SNVindel,exonic,DNMBP,NA,nonsynonymous SNV,DNMBP:NM_015221:exon4:c.G269A:p.G90D,D,D,D,T,D,T
chr10,101953134,101953134,G,A,R007_S,CHUK,Missense_Mutation,NM_001278,exon19,c.C2029T,p.P677S,SNP,SNVindel,exonic,CHUK,NA,nonsynonymous SNV,"CHUK:NM_001278:exon19:c.C2029T:p.P677S,CHUK:NM_001320928:exon19:c.C2029T:p.P677S",T,D,D,T,N,T
chr10,102283654,102283654,G,A,R007_S,NDUFB8,Silent,NM_001284368,exon5,c.C408T,p.Y136Y,SNP,SNVindel,exonic,NDUFB8,NA,synonymous SNV,"NDUFB8:NM_001284368:exon5:c.C408T:p.Y136Y,NDUFB8:NM_005004:exon5:c.C501T:p.Y167Y",NA,NA,NA,NA,NA,NA
chr10,102744618,102744618,C,T,R007_S,SEMA4G,Missense_Mutation,NM_001203244,exon14,c.C2077T,p.P693S,SNP,SNVindel,exonic,SEMA4G,NA,nonsynonymous SNV,SEMA4G:NM_001203244:exon14:c.C2077T:p.P693S,D,.,N,T,N,T
chr10,102747155,102747155,G,A,R007_S,MRPL43,Missense_Mutation,NM_001308396,exon1,c.C46T,p.H16Y,SNP,SNVindel,exonic,MRPL43,NA,nonsynonymous SNV,"MRPL43:NM_001308396:exon1:c.C46T:p.H16Y,MRPL43:NM_032112:exon1:c.C46T:p.H16Y,MRPL43:NM_176792:exon1:c.C46T:p.H16Y,MRPL43:NM_176793:exon1:c.C46T:p.H16Y,MRPL43:NM_176794:exon1:c.C46T:p.H16Y",T,N,D,.,N,T
chr10,102891830,102891830,G,A,R007_S,TLX1,Missense_Mutation,NM_001195517,exon1,c.G532A,p.E178K,SNP,SNVindel,exonic,TLX1,NA,nonsynonymous SNV,"TLX1:NM_001195517:exon1:c.G532A:p.E178K,TLX1:NM_005521:exon1:c.G532A:p.E178K",D,D,D,D,N,D
chr10,103345755,103345755,C,T,R007_S,POLL,Missense_Mutation,NM_001174084,exon3,c.G274A,p.E92K,SNP,SNVindel,exonic,POLL,NA,nonsynonymous SNV,"POLL:NM_001174084:exon3:c.G274A:p.E92K,POLL:NM_001174085:exon3:c.G274A:p.E92K,POLL:NM_013274:exon3:c.G274A:p.E92K",T,D,D,T,N,T
chr10,103542328,103542328,G,A,R007_S,NPM3,Silent,NM_006993,exon3,c.C231T,p.D77D,SNP,SNVindel,exonic,NPM3,NA,synonymous SNV,NPM3:NM_006993:exon3:c.C231T:p.D77D,NA,NA,NA,NA,NA,NA
chr10,103567564,103567564,G,A,R007_S,OGA,Missense_Mutation,NM_001142434,exon5,c.C575T,p.A192V,SNP,SNVindel,exonic,OGA,NA,nonsynonymous SNV,"OGA:NM_001142434:exon5:c.C575T:p.A192V,OGA:NM_012215:exon5:c.C575T:p.A192V",D,D,D,T,D,T
chr10,103793083,103793083,C,T,R007_S,ARMH3,Missense_Mutation,NM_024541,exon3,c.G116A,p.S39N,SNP,SNVindel,exonic,ARMH3,NA,nonsynonymous SNV,ARMH3:NM_024541:exon3:c.G116A:p.S39N,D,D,D,T,N,T
chr10,103827280,103827280,G,A,R007_S,HPS6,Silent,NM_024747,exon1,c.G2049A,p.R683R,SNP,SNVindel,exonic,HPS6,NA,synonymous SNV,HPS6:NM_024747:exon1:c.G2049A:p.R683R,NA,NA,NA,NA,NA,NA
chr10,103989002,103989002,G,A,R007_S,ELOVL3,Missense_Mutation,NM_152310,exon4,c.G806A,p.S269N,SNP,SNVindel,exonic,ELOVL3,NA,nonsynonymous SNV,ELOVL3:NM_152310:exon4:c.G806A:p.S269N,D,N,N,T,N,T
chr10,104018744,104018744,G,A,R007_S,GBF1,Missense_Mutation,NM_001199378,exon2,c.G49A,p.V17I,SNP,SNVindel,exonic,GBF1,NA,nonsynonymous SNV,"GBF1:NM_001199378:exon2:c.G49A:p.V17I,GBF1:NM_001199379:exon2:c.G49A:p.V17I,GBF1:NM_004193:exon2:c.G49A:p.V17I",T,N,D,T,N,T
chr10,104120018,104120018,G,A,R007_S,GBF1,Missense_Mutation,NM_001199378,exon12,c.G1258A,p.D420N,SNP,SNVindel,exonic,GBF1,NA,nonsynonymous SNV,"GBF1:NM_001199378:exon12:c.G1258A:p.D420N,GBF1:NM_001199379:exon12:c.G1255A:p.D419N,GBF1:NM_004193:exon12:c.G1255A:p.D419N",D,D,D,T,D,T
chr10,104159867,104159867,G,A,R007_S,NFKB2,Silent,NM_001261403,exon14,c.G1500A,p.Q500Q,SNP,SNVindel,exonic,NFKB2,NA,synonymous SNV,"NFKB2:NM_001261403:exon14:c.G1500A:p.Q500Q,NFKB2:NM_001322935:exon14:c.G1374A:p.Q458Q,NFKB2:NM_001077494:exon15:c.G1500A:p.Q500Q,NFKB2:NM_001288724:exon15:c.G1500A:p.Q500Q,NFKB2:NM_001322934:exon15:c.G1500A:p.Q500Q,NFKB2:NM_002502:exon15:c.G1500A:p.Q500Q",NA,NA,NA,NA,NA,NA
chr10,104170824,104170824,G,A,R007_S,PSD,Silent,NM_002779,exon9,c.C1992T,p.L664L,SNP,SNVindel,exonic,PSD,NA,synonymous SNV,"PSD:NM_002779:exon9:c.C1992T:p.L664L,PSD:NM_001270965:exon10:c.C1992T:p.L664L,PSD:NM_001270966:exon10:c.C855T:p.L285L",NA,NA,NA,NA,NA,NA
chr10,104816569,104816569,C,T,R007_S,CNNM2,Missense_Mutation,NM_017649,exon4,c.C1921T,p.P641S,SNP,SNVindel,exonic,CNNM2,NA,nonsynonymous SNV,"CNNM2:NM_017649:exon4:c.C1921T:p.P641S,CNNM2:NM_199076:exon4:c.C1921T:p.P641S",T,D,D,T,D,T
chr10,105185055,105185055,G,A,R007_S,PDCD11,Silent,NM_014976,exon20,c.G3078A,p.G1026G,SNP,SNVindel,exonic,PDCD11,NA,synonymous SNV,PDCD11:NM_014976:exon20:c.G3078A:p.G1026G,NA,NA,NA,NA,NA,NA
chr10,105215241,105215241,G,A,R007_S,CALHM1,Silent,NM_001001412,exon2,c.C819T,p.S273S,SNP,SNVindel,exonic,CALHM1,NA,synonymous SNV,CALHM1:NM_001001412:exon2:c.C819T:p.S273S,NA,NA,NA,NA,NA,NA
chr10,105233077,105233077,G,A,R007_S,CALHM3,Missense_Mutation,NM_001129742,exon3,c.C928T,p.P310S,SNP,SNVindel,exonic,CALHM3,NA,nonsynonymous SNV,CALHM3:NM_001129742:exon3:c.C928T:p.P310S,D,D,D,T,D,T
chr10,105386958,105386958,G,A,R007_S,SH3PXD2A,Silent,NM_001365079,exon3,c.C249T,p.G83G,SNP,SNVindel,exonic,SH3PXD2A,NA,synonymous SNV,"SH3PXD2A:NM_001365079:exon3:c.C249T:p.G83G,SH3PXD2A:NM_014631:exon9:c.C606T:p.G202G",NA,NA,NA,NA,NA,NA
chr10,105793944,105793944,G,A,R007_S,COL17A1,Silent,NM_000494,exon52,c.C3915T,p.S1305S,SNP,SNVindel,exonic,COL17A1,NA,synonymous SNV,COL17A1:NM_000494:exon52:c.C3915T:p.S1305S,NA,NA,NA,NA,NA,NA
chr10,105920908,105920908,G,A,R007_S,CFAP43,Missense_Mutation,NM_025145,exon27,c.C3427T,p.P1143S,SNP,SNVindel,exonic,CFAP43,NA,nonsynonymous SNV,CFAP43:NM_025145:exon27:c.C3427T:p.P1143S,D,D,D,T,D,T
chr10,108469022,108469022,G,A,R007_S,SORCS1,Missense_Mutation,NM_001013031,exon7,c.C1102T,p.P368S,SNP,SNVindel,exonic,SORCS1,NA,nonsynonymous SNV,"SORCS1:NM_001013031:exon7:c.C1102T:p.P368S,SORCS1:NM_001206569:exon7:c.C1102T:p.P368S,SORCS1:NM_001206570:exon7:c.C1102T:p.P368S,SORCS1:NM_001206571:exon7:c.C1102T:p.P368S,SORCS1:NM_001206572:exon7:c.C1102T:p.P368S,SORCS1:NM_052918:exon7:c.C1102T:p.P368S",T,D,D,T,N,T
chr10,112541452,112541452,C,T,R007_S,RBM20,Missense_Mutation,NM_001134363,exon2,c.C1085T,p.P362L,SNP,SNVindel,exonic,RBM20,NA,nonsynonymous SNV,RBM20:NM_001134363:exon2:c.C1085T:p.P362L,T,N,D,D,N,T
chr10,114903765,114903765,C,T,R007_S,TCF7L2,Silent,NM_001349870,exon3,c.C340T,p.L114L,SNP,SNVindel,exonic,TCF7L2,NA,synonymous SNV,"TCF7L2:NM_001349870:exon3:c.C340T:p.L114L,TCF7L2:NM_001349871:exon3:c.C220T:p.L74L,TCF7L2:NM_001198530:exon5:c.C598T:p.L200L,TCF7L2:NM_001146284:exon6:c.C700T:p.L234L,TCF7L2:NM_001146285:exon6:c.C700T:p.L234L,TCF7L2:NM_001146286:exon6:c.C700T:p.L234L,TCF7L2:NM_001198525:exon6:c.C700T:p.L234L,TCF7L2:NM_001198526:exon6:c.C700T:p.L234L,TCF7L2:NM_001198527:exon6:c.C700T:p.L234L,TCF7L2:NM_001198528:exon6:c.C700T:p.L234L,TCF7L2:NM_001198529:exon6:c.C700T:p.L234L,TCF7L2:NM_030756:exon6:c.C700T:p.L234L,TCF7L2:NM_001146274:exon7:c.C769T:p.L257L,TCF7L2:NM_001146283:exon7:c.C841T:p.L281L,TCF7L2:NM_001198531:exon7:c.C769T:p.L257L,TCF7L2:NM_001363501:exon7:c.C769T:p.L257L,TCF7L2:NM_001367943:exon7:c.C769T:p.L257L",NA,NA,NA,NA,NA,NA
chr10,118630740,118630740,G,A,R007_S,ENO4,Silent,NM_001242699,exon9,c.G1152A,p.G384G,SNP,SNVindel,exonic,ENO4,NA,synonymous SNV,ENO4:NM_001242699:exon9:c.G1152A:p.G384G,NA,NA,NA,NA,NA,NA
chr10,119015146,119015146,C,T,R007_S,SLC18A2,Silent,NM_003054,exon9,c.C873T,p.D291D,SNP,SNVindel,exonic,SLC18A2,NA,synonymous SNV,SLC18A2:NM_003054:exon9:c.C873T:p.D291D,NA,NA,NA,NA,NA,NA
chr10,120820275,120820275,G,A,R007_S,EIF3A,Missense_Mutation,NM_003750,exon9,c.C1309T,p.L437F,SNP,SNVindel,exonic,EIF3A,NA,nonsynonymous SNV,EIF3A:NM_003750:exon9:c.C1309T:p.L437F,D,U,D,T,N,T
chr10,123244987,123244987,C,T,R007_S,FGFR2,Missense_Mutation,NM_001144914,exon13,c.G1781A,p.G594E,SNP,SNVindel,exonic,FGFR2,NA,nonsynonymous SNV,"FGFR2:NM_001144914:exon13:c.G1781A:p.G594E,FGFR2:NM_001144916:exon13:c.G1772A:p.G591E,FGFR2:NM_001144917:exon14:c.G1769A:p.G590E,FGFR2:NM_001144918:exon14:c.G1766A:p.G589E,FGFR2:NM_023029:exon14:c.G1850A:p.G617E,FGFR2:NM_001144913:exon15:c.G2120A:p.G707E,FGFR2:NM_001144915:exon15:c.G1850A:p.G617E,FGFR2:NM_001144919:exon15:c.G1853A:p.G618E,FGFR2:NM_001320654:exon15:c.G1433A:p.G478E,FGFR2:NM_000141:exon16:c.G2117A:p.G706E,FGFR2:NM_001320658:exon16:c.G2111A:p.G704E,FGFR2:NM_022970:exon16:c.G2120A:p.G707E",D,D,D,D,D,D
chr10,123847036,123847036,C,T,R007_S,TACC2,Missense_Mutation,NM_001291876,exon4,c.C5021T,p.A1674V,SNP,SNVindel,exonic,TACC2,NA,nonsynonymous SNV,"TACC2:NM_001291876:exon4:c.C5021T:p.A1674V,TACC2:NM_001291877:exon4:c.C5021T:p.A1674V,TACC2:NM_206862:exon4:c.C5021T:p.A1674V",T,N,N,T,N,T
chr10,124389398,124389398,G,A,R007_S,DMBT1,Missense_Mutation,NM_004406,exon31,c.G3440A,p.G1147E,SNP,SNVindel,exonic,DMBT1,NA,nonsynonymous SNV,"DMBT1:NM_004406:exon31:c.G3440A:p.G1147E,DMBT1:NM_017579:exon43:c.G5294A:p.G1765E,DMBT1:NM_001320644:exon44:c.G5324A:p.G1775E,DMBT1:NM_007329:exon44:c.G5324A:p.G1775E",D,.,N,T,D,T
chr10,124594543,124594543,G,A,R007_S,CUZD1,Missense_Mutation,NM_022034,exon7,c.C1061T,p.T354I,SNP,SNVindel,exonic,CUZD1,NA,nonsynonymous SNV,CUZD1:NM_022034:exon7:c.C1061T:p.T354I,D,D,D,D,D,D
chr10,124806792,124806792,G,A,R007_S,ACADSB,Missense_Mutation,NM_001330174,exon7,c.G662A,p.G221D,SNP,SNVindel,exonic,ACADSB,NA,nonsynonymous SNV,"ACADSB:NM_001330174:exon7:c.G662A:p.G221D,ACADSB:NM_001609:exon8:c.G968A:p.G323D",D,D,D,D,D,D
chr10,125805660,125805660,G,A,R007_S,CHST15,Silent,NM_001270764,exon2,c.C69T,p.C23C,SNP,SNVindel,exonic,CHST15,NA,synonymous SNV,"CHST15:NM_001270764:exon2:c.C69T:p.C23C,CHST15:NM_001270765:exon2:c.C69T:p.C23C,CHST15:NM_014863:exon2:c.C69T:p.C23C,CHST15:NM_015892:exon2:c.C69T:p.C23C",NA,NA,NA,NA,NA,NA
chr10,127483469,127483469,C,T,R007_S,UROS,Missense_Mutation,NM_001324037,exon8,c.G559A,p.D187N,SNP,SNVindel,exonic,UROS,NA,nonsynonymous SNV,"UROS:NM_001324037:exon8:c.G559A:p.D187N,UROS:NM_001324038:exon8:c.G559A:p.D187N,UROS:NM_000375:exon9:c.G640A:p.D214N,UROS:NM_001324036:exon9:c.G640A:p.D214N",T,N,N,D,N,D
chr10,129209171,129209171,C,T,R007_S,DOCK1,Missense_Mutation,NM_001290223,exon43,c.C4411T,p.P1471S,SNP,SNVindel,exonic,DOCK1,NA,nonsynonymous SNV,"DOCK1:NM_001290223:exon43:c.C4411T:p.P1471S,DOCK1:NM_001380:exon43:c.C4348T:p.P1450S",T,D,D,T,D,T
chr10,129864396,129864396,G,A,R007_S,PTPRE,Missense_Mutation,NM_001323357,exon7,c.G121A,p.V41M,SNP,SNVindel,exonic,PTPRE,NA,nonsynonymous SNV,"PTPRE:NM_001323357:exon7:c.G121A:p.V41M,PTPRE:NM_130435:exon8:c.G607A:p.V203M,PTPRE:NM_001316677:exon10:c.G781A:p.V261M,PTPRE:NM_001323354:exon10:c.G781A:p.V261M,PTPRE:NM_001323355:exon10:c.G841A:p.V281M,PTPRE:NM_001323356:exon10:c.G835A:p.V279M,PTPRE:NM_006504:exon11:c.G781A:p.V261M,PTPRE:NM_001316676:exon12:c.G814A:p.V272M",D,D,D,T,D,T
chr10,133963509,133963509,G,A,R007_S,JAKMIP3,Missense_Mutation,NM_001323089,exon15,c.G1749A,p.M583I,SNP,SNVindel,exonic,JAKMIP3,NA,nonsynonymous SNV,"JAKMIP3:NM_001323089:exon15:c.G1749A:p.M583I,JAKMIP3:NM_001105521:exon16:c.G1971A:p.M657I,JAKMIP3:NM_001323086:exon16:c.G1971A:p.M657I,JAKMIP3:NM_001323087:exon16:c.G1971A:p.M657I,JAKMIP3:NM_001323088:exon16:c.G1965A:p.M655I,JAKMIP3:NM_001323090:exon16:c.G1971A:p.M657I",T,.,D,T,N,T
chr10,134179029,134179029,G,A,R007_S,LRRC27,Missense_Mutation,NM_001309474,exon9,c.G1010A,p.R337K,SNP,SNVindel,exonic,LRRC27,NA,nonsynonymous SNV,"LRRC27:NM_001309474:exon9:c.G1010A:p.R337K,LRRC27:NM_001143757:exon10:c.G1391A:p.R464K,LRRC27:NM_030626:exon10:c.G1391A:p.R464K",T,N,N,T,N,T
chr10,135342143,135342143,G,A,R007_S,CYP2E1,Silent,NM_000773,exon2,c.G336A,p.R112R,SNP,SNVindel,exonic,CYP2E1,NA,synonymous SNV,CYP2E1:NM_000773:exon2:c.G336A:p.R112R,NA,NA,NA,NA,NA,NA
chr11,280995,280995,C,T,R007_S,NLRP6,Missense_Mutation,NM_001276700,exon4,c.C1261T,p.L421F,SNP,SNVindel,exonic,NLRP6,NA,nonsynonymous SNV,"NLRP6:NM_001276700:exon4:c.C1261T:p.L421F,NLRP6:NM_138329:exon4:c.C1261T:p.L421F",T,N,N,T,N,T
chr11,281776,281776,C,T,R007_S,NLRP6,Missense_Mutation,NM_001276700,exon4,c.C2042T,p.A681V,SNP,SNVindel,exonic,NLRP6,NA,nonsynonymous SNV,"NLRP6:NM_001276700:exon4:c.C2042T:p.A681V,NLRP6:NM_138329:exon4:c.C2042T:p.A681V",T,N,N,T,N,T
chr11,555786,555786,G,A,R007_S,LMNTD2,Missense_Mutation,NM_173573,exon12,c.C1522T,p.P508S,SNP,SNVindel,exonic,LMNTD2,NA,nonsynonymous SNV,LMNTD2:NM_173573:exon12:c.C1522T:p.P508S,T,N,N,T,N,T
chr11,639499,639499,C,T,R007_S,DRD4,Silent,NM_000797,exon2,c.C352T,p.L118L,SNP,SNVindel,exonic,DRD4,NA,synonymous SNV,DRD4:NM_000797:exon2:c.C352T:p.L118L,NA,NA,NA,NA,NA,NA
chr11,722420,722420,G,A,R007_S,EPS8L2,Missense_Mutation,NM_022772,exon13,c.G1079A,p.G360D,SNP,SNVindel,exonic,EPS8L2,NA,nonsynonymous SNV,EPS8L2:NM_022772:exon13:c.G1079A:p.G360D,D,U,D,T,D,T
chr11,771060,771060,C,T,R007_S,GATD1,Missense_Mutation,NM_001318822,exon5,c.G331A,p.V111I,SNP,SNVindel,exonic,GATD1,NA,nonsynonymous SNV,"GATD1:NM_001318822:exon5:c.G331A:p.V111I,GATD1:NM_001318818:exon6:c.G439A:p.V147I,GATD1:NM_001318820:exon6:c.G481A:p.V161I,GATD1:NM_001318823:exon6:c.G439A:p.V147I,GATD1:NM_001318824:exon6:c.G481A:p.V161I,GATD1:NM_001318821:exon7:c.G589A:p.V197I,GATD1:NM_182612:exon7:c.G589A:p.V197I",T,.,D,T,N,T
chr11,838019,838019,C,T,R007_S,CD151,Silent,NM_001039490,exon7,c.C693T,p.A231A,SNP,SNVindel,exonic,CD151,NA,synonymous SNV,"CD151:NM_001039490:exon7:c.C693T:p.A231A,CD151:NM_139030:exon7:c.C693T:p.A231A,CD151:NM_004357:exon8:c.C693T:p.A231A,CD151:NM_139029:exon8:c.C693T:p.A231A",NA,NA,NA,NA,NA,NA
chr11,840447,840447,G,A,R007_S,POLR2L,Silent,NM_021128,exon2,c.C129T,p.Y43Y,SNP,SNVindel,exonic,POLR2L,NA,synonymous SNV,POLR2L:NM_021128:exon2:c.C129T:p.Y43Y,NA,NA,NA,NA,NA,NA
chr11,862663,862663,C,T,R007_S,TSPAN4,Silent,NM_001025238,exon3,c.C177T,p.I59I,SNP,SNVindel,exonic,TSPAN4,NA,synonymous SNV,"TSPAN4:NM_001025238:exon3:c.C177T:p.I59I,TSPAN4:NM_001025234:exon4:c.C177T:p.I59I,TSPAN4:NM_001025235:exon4:c.C177T:p.I59I,TSPAN4:NM_001025236:exon4:c.C177T:p.I59I,TSPAN4:NM_001025237:exon4:c.C177T:p.I59I,TSPAN4:NM_003271:exon4:c.C177T:p.I59I",NA,NA,NA,NA,NA,NA
chr11,1016454,1016454,G,A,R007_S,MUC6,Missense_Mutation,NM_005961,exon31,c.C6347T,p.S2116F,SNP,SNVindel,exonic,MUC6,NA,nonsynonymous SNV,MUC6:NM_005961:exon31:c.C6347T:p.S2116F,D,.,N,T,N,T
chr11,1081507,1081507,G,A,R007_S,MUC2,Missense_Mutation,NM_002457,exon12,c.G1525A,p.V509I,SNP,SNVindel,exonic,MUC2,NA,nonsynonymous SNV,MUC2:NM_002457:exon12:c.G1525A:p.V509I,NA,NA,NA,NA,NA,NA
chr11,1093499,1093499,C,T,R007_S,MUC2,Missense_Mutation,NM_002457,exon31,c.C5318T,p.T1773I,SNP,SNVindel,exonic,MUC2,NA,nonsynonymous SNV,MUC2:NM_002457:exon31:c.C5318T:p.T1773I,NA,NA,NA,NA,NA,NA
chr11,1629042,1629042,G,A,R007_S,KRTAP5-3,Missense_Mutation,NM_001012708,exon1,c.C574T,p.P192S,SNP,SNVindel,exonic,KRTAP5-3,NA,nonsynonymous SNV,KRTAP5-3:NM_001012708:exon1:c.C574T:p.P192S,D,.,N,T,D,T
chr11,2187236,2187236,G,A,R007_S,TH,Missense_Mutation,NM_000360,exon10,c.C1100T,p.S367F,SNP,SNVindel,exonic,TH,NA,nonsynonymous SNV,"TH:NM_000360:exon10:c.C1100T:p.S367F,TH:NM_199292:exon11:c.C1193T:p.S398F,TH:NM_199293:exon11:c.C1181T:p.S394F",D,D,D,D,D,D
chr11,2291251,2291251,G,A,R007_S,ASCL2,Silent,NM_005170,exon1,c.C312T,p.R104R,SNP,SNVindel,exonic,ASCL2,NA,synonymous SNV,ASCL2:NM_005170:exon1:c.C312T:p.R104R,NA,NA,NA,NA,NA,NA
chr11,3039739,3039739,G,A,R007_S,CARS,Missense_Mutation,NM_001751,exon13,c.C1279T,p.R427W,SNP,SNVindel,exonic,CARS,NA,nonsynonymous SNV,"CARS:NM_001751:exon13:c.C1279T:p.R427W,CARS:NM_139273:exon13:c.C1279T:p.R427W,CARS:NM_001014437:exon14:c.C1528T:p.R510W,CARS:NM_001194997:exon14:c.C1528T:p.R510W",D,D,D,T,D,D
chr11,3114869,3114869,C,T,R007_S,OSBPL5,Missense_Mutation,NM_001144063,exon16,c.G1630A,p.E544K,SNP,SNVindel,exonic,OSBPL5,NA,nonsynonymous SNV,"OSBPL5:NM_001144063:exon16:c.G1630A:p.E544K,OSBPL5:NM_145638:exon16:c.G1630A:p.E544K,OSBPL5:NM_020896:exon17:c.G1834A:p.E612K",T,N,N,T,N,T
chr11,3249660,3249660,C,T,R007_S,MRGPRE,Missense_Mutation,NM_001039165,exon2,c.G370A,p.A124T,SNP,SNVindel,exonic,MRGPRE,NA,nonsynonymous SNV,MRGPRE:NM_001039165:exon2:c.G370A:p.A124T,T,U,N,T,N,T
chr11,3380864,3380864,C,T,R007_S,ZNF195,Silent,NM_007152,exon4,c.G1158A,p.R386R,SNP,SNVindel,exonic,ZNF195,NA,synonymous SNV,"ZNF195:NM_007152:exon4:c.G1158A:p.R386R,ZNF195:NM_001130519:exon5:c.G1305A:p.R435R,ZNF195:NM_001242843:exon5:c.G1170A:p.R390R,ZNF195:NM_001256825:exon5:c.G1170A:p.R390R,ZNF195:NM_001130520:exon6:c.G1374A:p.R458R,ZNF195:NM_001242841:exon6:c.G1317A:p.R439R,ZNF195:NM_001242842:exon6:c.G1239A:p.R413R,ZNF195:NM_001256824:exon6:c.G1263A:p.R421R",NA,NA,NA,NA,NA,NA
chr11,3789965,3789965,C,T,R007_S,NUP98,Missense_Mutation,NM_001365125,exon8,c.G794A,p.G265E,SNP,SNVindel,exonic,NUP98,NA,nonsynonymous SNV,"NUP98:NM_001365125:exon8:c.G794A:p.G265E,NUP98:NM_001365126:exon8:c.G794A:p.G265E,NUP98:NM_001365127:exon8:c.G794A:p.G265E,NUP98:NM_001365128:exon8:c.G767A:p.G256E,NUP98:NM_001365129:exon8:c.G794A:p.G265E,NUP98:NM_005387:exon8:c.G794A:p.G265E,NUP98:NM_016320:exon8:c.G794A:p.G265E,NUP98:NM_139131:exon8:c.G794A:p.G265E,NUP98:NM_139132:exon8:c.G794A:p.G265E",D,D,D,.,D,T
chr11,3819237,3819237,C,T,R007_S,PGAP2,Missense_Mutation,NM_001346397,exon1,c.C28T,p.P10S,SNP,SNVindel,exonic,PGAP2,NA,nonsynonymous SNV,PGAP2:NM_001346397:exon1:c.C28T:p.P10S,NA,NA,NA,NA,NA,NA
chr11,3846667,3846667,G,A,R007_S,PGAP2,Silent,NM_001256239,exon6,c.G732A,p.Q244Q,SNP,SNVindel,exonic,PGAP2,NA,synonymous SNV,"PGAP2:NM_001256239:exon6:c.G732A:p.Q244Q,PGAP2:NM_001256240:exon6:c.G744A:p.Q248Q,PGAP2:NM_001145438:exon7:c.G903A:p.Q301Q,PGAP2:NM_001283038:exon7:c.G915A:p.Q305Q,PGAP2:NM_001346397:exon7:c.G897A:p.Q299Q,PGAP2:NM_001346398:exon7:c.G744A:p.Q248Q,PGAP2:NM_001346400:exon7:c.G732A:p.Q244Q,PGAP2:NM_001346405:exon7:c.G744A:p.Q248Q,PGAP2:NM_014489:exon7:c.G927A:p.Q309Q,PGAP2:NM_001256235:exon8:c.G798A:p.Q266Q,PGAP2:NM_001256236:exon8:c.G1098A:p.Q366Q,PGAP2:NM_001346402:exon8:c.G864A:p.Q288Q",NA,NA,NA,NA,NA,NA
chr11,4388923,4388923,C,T,R007_S,OR52B4,Silent,NM_001005161,exon1,c.G603A,p.G201G,SNP,SNVindel,exonic,OR52B4,NA,synonymous SNV,OR52B4:NM_001005161:exon1:c.G603A:p.G201G,NA,NA,NA,NA,NA,NA
chr11,4703854,4703854,G,A,R007_S,OR51E2,Missense_Mutation,NM_030774,exon2,c.C88T,p.L30F,SNP,SNVindel,exonic,OR51E2,NA,nonsynonymous SNV,OR51E2:NM_030774:exon2:c.C88T:p.L30F,T,N,N,T,N,T
chr11,4881707,4881707,C,T,R007_S,OR51H1,Missense_Mutation,NM_001348291,exon1,c.G88A,p.A30T,SNP,SNVindel,exonic,OR51H1,NA,nonsynonymous SNV,OR51H1:NM_001348291:exon1:c.G88A:p.A30T,D,D,D,T,N,T
chr11,5020752,5020752,C,T,R007_S,OR51L1,Silent,NM_001004755,exon1,c.C540T,p.F180F,SNP,SNVindel,exonic,OR51L1,NA,synonymous SNV,OR51L1:NM_001004755:exon1:c.C540T:p.F180F,NA,NA,NA,NA,NA,NA
chr11,5080298,5080298,G,A,R007_S,OR52E2,Missense_Mutation,NM_001005164,exon1,c.C560T,p.A187V,SNP,SNVindel,exonic,OR52E2,NA,nonsynonymous SNV,OR52E2:NM_001005164:exon1:c.C560T:p.A187V,D,D,N,T,D,T
chr11,5462246,5462246,G,A,R007_S,OR51I1,Nonsense_Mutation,NM_001005288,exon1,c.C499T,p.R167X,SNP,SNVindel,exonic,OR51I1,NA,stopgain,OR51I1:NM_001005288:exon1:c.C499T:p.R167X,.,N,D,.,.,.
chr11,5536499,5536499,C,T,R007_S,UBQLNL,Silent,NM_145053,exon1,c.G1173A,p.Q391Q,SNP,SNVindel,exonic,UBQLNL,NA,synonymous SNV,UBQLNL:NM_145053:exon1:c.G1173A:p.Q391Q,NA,NA,NA,NA,NA,NA
chr11,5536785,5536785,G,A,R007_S,UBQLNL,Missense_Mutation,NM_145053,exon1,c.C887T,p.A296V,SNP,SNVindel,exonic,UBQLNL,NA,nonsynonymous SNV,UBQLNL:NM_145053:exon1:c.C887T:p.A296V,D,N,N,T,D,T
chr11,5798985,5798985,G,A,R007_S,OR52N5,Missense_Mutation,NM_001001922,exon1,c.C880T,p.P294S,SNP,SNVindel,exonic,OR52N5,NA,nonsynonymous SNV,OR52N5:NM_001001922:exon1:c.C880T:p.P294S,D,.,D,T,D,T
chr11,5922695,5922695,G,A,R007_S,OR52E5,Nonsense_Mutation,NM_001005166,exon1,c.G701A,p.W234X,SNP,SNVindel,exonic,OR52E5,NA,stopgain,OR52E5:NM_001005166:exon1:c.G701A:p.W234X,.,.,.,.,.,.
chr11,6231633,6231633,G,A,R007_S,C11orf42,Missense_Mutation,NM_173525,exon2,c.G626A,p.G209E,SNP,SNVindel,exonic,C11orf42,NA,nonsynonymous SNV,C11orf42:NM_173525:exon2:c.G626A:p.G209E,D,D,D,T,D,T
chr11,6239075,6239075,G,A,R007_S,FAM160A2,Missense_Mutation,NM_001098794,exon9,c.C1741T,p.P581S,SNP,SNVindel,exonic,FAM160A2,NA,nonsynonymous SNV,"FAM160A2:NM_001098794:exon9:c.C1741T:p.P581S,FAM160A2:NM_032127:exon9:c.C1783T:p.P595S",D,D,D,T,D,T
chr11,6587115,6587115,G,A,R007_S,DNHD1,Silent,NM_144666,exon33,c.G10947A,p.G3649G,SNP,SNVindel,exonic,DNHD1,NA,synonymous SNV,DNHD1:NM_144666:exon33:c.G10947A:p.G3649G,NA,NA,NA,NA,NA,NA
chr11,6592894,6592894,C,T,R007_S,DNHD1,Missense_Mutation,NM_144666,exon43,c.C13940T,p.P4647L,SNP,SNVindel,exonic,DNHD1,NA,nonsynonymous SNV,DNHD1:NM_144666:exon43:c.C13940T:p.P4647L,T,N,D,T,D,T
chr11,6622180,6622180,C,T,R007_S,RRP8,Silent,NM_015324,exon4,c.G1023A,p.R341R,SNP,SNVindel,exonic,RRP8,NA,synonymous SNV,RRP8:NM_015324:exon4:c.G1023A:p.R341R,NA,NA,NA,NA,NA,NA
chr11,6635838,6635838,G,A,R007_S,TPP1,Missense_Mutation,NM_000391,exon13,c.C1631T,p.P544L,SNP,SNVindel,exonic,TPP1,NA,nonsynonymous SNV,TPP1:NM_000391:exon13:c.C1631T:p.P544L,D,D,D,D,D,D
chr11,6643024,6643024,C,T,R007_S,DCHS1,Missense_Mutation,NM_003737,exon21,c.G9883A,p.E3295K,SNP,SNVindel,exonic,DCHS1,NA,nonsynonymous SNV,DCHS1:NM_003737:exon21:c.G9883A:p.E3295K,D,D,D,T,N,T
chr11,6645289,6645289,C,T,R007_S,DCHS1,Missense_Mutation,NM_003737,exon21,c.G7618A,p.A2540T,SNP,SNVindel,exonic,DCHS1,NA,nonsynonymous SNV,DCHS1:NM_003737:exon21:c.G7618A:p.A2540T,T,N,N,T,N,T
chr11,6662037,6662037,G,A,R007_S,DCHS1,Missense_Mutation,NM_003737,exon2,c.C808T,p.P270S,SNP,SNVindel,exonic,DCHS1,NA,nonsynonymous SNV,DCHS1:NM_003737:exon2:c.C808T:p.P270S,T,N,D,T,D,T
chr11,6789641,6789641,G,T,R007_S,OR2AG2,Missense_Mutation,NM_001004490,exon1,c.C548A,p.P183H,SNP,SNVindel,exonic,OR2AG2,NA,nonsynonymous SNV,OR2AG2:NM_001004490:exon1:c.C548A:p.P183H,D,N,N,T,N,T
chr11,6789658,6789658,C,A,R007_S,OR2AG2,Silent,NM_001004490,exon1,c.G531T,p.L177L,SNP,SNVindel,exonic,OR2AG2,NA,synonymous SNV,OR2AG2:NM_001004490:exon1:c.G531T:p.L177L,NA,NA,NA,NA,NA,NA
chr11,6806660,6806660,C,A,R007_S,OR2AG1,Missense_Mutation,NM_001004489,exon1,c.C392A,p.T131K,SNP,SNVindel,exonic,OR2AG1,NA,nonsynonymous SNV,OR2AG1:NM_001004489:exon1:c.C392A:p.T131K,T,N,N,T,N,T
chr11,6806680,6806680,T,C,R007_S,OR2AG1,Missense_Mutation,NM_001004489,exon1,c.T412C,p.S138P,SNP,SNVindel,exonic,OR2AG1,NA,nonsynonymous SNV,OR2AG1:NM_001004489:exon1:c.T412C:p.S138P,T,N,N,T,N,T
chr11,6977484,6977484,C,T,R007_S,ZNF215,Nonsense_Mutation,NM_001354858,exon5,c.C562T,p.Q188X,SNP,SNVindel,exonic,ZNF215,NA,stopgain,"ZNF215:NM_001354858:exon5:c.C562T:p.Q188X,ZNF215:NM_001354859:exon5:c.C562T:p.Q188X,ZNF215:NM_001354860:exon5:c.C562T:p.Q188X,ZNF215:NM_001354855:exon6:c.C598T:p.Q200X,ZNF215:NM_001354856:exon6:c.C598T:p.Q200X,ZNF215:NM_001354857:exon6:c.C598T:p.Q200X,ZNF215:NM_001354853:exon7:c.C1276T:p.Q426X,ZNF215:NM_013250:exon7:c.C1276T:p.Q426X",.,N,D,.,.,.
chr11,7273552,7273552,C,T,R007_S,SYT9,Silent,NM_175733,exon1,c.C135T,p.L45L,SNP,SNVindel,exonic,SYT9,NA,synonymous SNV,SYT9:NM_175733:exon1:c.C135T:p.L45L,NA,NA,NA,NA,NA,NA
chr11,7530854,7530854,G,A,R007_S,OLFML1,Missense_Mutation,NM_001370499,exon3,c.G236A,p.G79E,SNP,SNVindel,exonic,OLFML1,NA,nonsynonymous SNV,"OLFML1:NM_001370499:exon3:c.G236A:p.G79E,OLFML1:NM_198474:exon3:c.G644A:p.G215E,OLFML1:NM_001370498:exon4:c.G644A:p.G215E",D,D,D,D,D,D
chr11,7847463,7847463,C,T,R007_S,OR5P3,Silent,NM_153445,exon1,c.G57A,p.E19E,SNP,SNVindel,exonic,OR5P3,NA,synonymous SNV,OR5P3:NM_153445:exon1:c.G57A:p.E19E,NA,NA,NA,NA,NA,NA
chr11,7982276,7982276,G,A,R007_S,NLRP10,Silent,NM_176821,exon2,c.C883T,p.L295L,SNP,SNVindel,exonic,NLRP10,NA,synonymous SNV,NLRP10:NM_176821:exon2:c.C883T:p.L295L,NA,NA,NA,NA,NA,NA
chr11,8486335,8486335,C,T,R007_S,STK33,Missense_Mutation,NM_001289061,exon4,c.G374A,p.G125E,SNP,SNVindel,exonic,STK33,NA,nonsynonymous SNV,"STK33:NM_001289061:exon4:c.G374A:p.G125E,STK33:NM_001352393:exon4:c.G374A:p.G125E,STK33:NM_001352396:exon4:c.G251A:p.G84E,STK33:NM_001352397:exon4:c.G251A:p.G84E,STK33:NM_001352399:exon4:c.G374A:p.G125E,STK33:NM_001289058:exon5:c.G251A:p.G84E,STK33:NM_001352387:exon5:c.G374A:p.G125E,STK33:NM_001352391:exon5:c.G374A:p.G125E,STK33:NM_001352394:exon5:c.G251A:p.G84E,STK33:NM_001352395:exon5:c.G251A:p.G84E,STK33:NM_001352398:exon5:c.G251A:p.G84E,STK33:NM_030906:exon5:c.G374A:p.G125E,STK33:NM_001352388:exon6:c.G374A:p.G125E,STK33:NM_001352390:exon6:c.G374A:p.G125E,STK33:NM_001352392:exon6:c.G374A:p.G125E,STK33:NM_001352389:exon7:c.G374A:p.G125E",D,D,D,D,D,D
chr11,8642015,8642015,C,T,R007_S,TRIM66,Missense_Mutation,NM_014818,exon16,c.G3122A,p.G1041D,SNP,SNVindel,exonic,TRIM66,NA,nonsynonymous SNV,TRIM66:NM_014818:exon16:c.G3122A:p.G1041D,D,N,D,T,D,T
chr11,8718158,8718158,C,T,R007_S,ST5,Silent,NM_139157,exon17,c.G1848A,p.E616E,SNP,SNVindel,exonic,ST5,NA,synonymous SNV,"ST5:NM_139157:exon17:c.G1848A:p.E616E,ST5:NM_213618:exon18:c.G3108A:p.E1036E,ST5:NM_005418:exon21:c.G3108A:p.E1036E",NA,NA,NA,NA,NA,NA
chr11,8728638,8728638,G,A,R007_S,ST5,Silent,NM_139157,exon12,c.C1305T,p.G435G,SNP,SNVindel,exonic,ST5,NA,synonymous SNV,"ST5:NM_139157:exon12:c.C1305T:p.G435G,ST5:NM_213618:exon13:c.C2565T:p.G855G,ST5:NM_005418:exon16:c.C2565T:p.G855G",NA,NA,NA,NA,NA,NA
chr11,9055313,9055313,C,T,R007_S,SCUBE2,Missense_Mutation,NM_001170690,exon13,c.G1568A,p.G523E,SNP,SNVindel,exonic,SCUBE2,NA,nonsynonymous SNV,"SCUBE2:NM_001170690:exon13:c.G1568A:p.G523E,SCUBE2:NM_001330199:exon16:c.G1946A:p.G649E,SCUBE2:NM_001367977:exon17:c.G2033A:p.G678E",T,D,D,T,D,T
chr11,9199693,9199693,G,A,R007_S,DENND5A,Missense_Mutation,NM_001348749,exon7,c.C1820T,p.T607I,SNP,SNVindel,exonic,DENND5A,NA,nonsynonymous SNV,"DENND5A:NM_001348749:exon7:c.C1820T:p.T607I,DENND5A:NM_001243254:exon8:c.C1892T:p.T631I,DENND5A:NM_015213:exon8:c.C1892T:p.T631I,DENND5A:NM_001348750:exon9:c.C1604T:p.T535I",T,D,D,T,N,T
chr11,10647548,10647548,G,A,R007_S,MRVI1,Missense_Mutation,NM_001206881,exon7,c.C388T,p.P130S,SNP,SNVindel,exonic,MRVI1,NA,nonsynonymous SNV,"MRVI1:NM_001206881:exon7:c.C388T:p.P130S,MRVI1:NM_001098579:exon8:c.C1309T:p.P437S,MRVI1:NM_001100163:exon9:c.C1060T:p.P354S,MRVI1:NM_001100167:exon9:c.C388T:p.P130S,MRVI1:NM_130385:exon9:c.C1333T:p.P445S",D,D,D,T,N,T
chr11,10823232,10823232,C,T,R007_S,EIF4G2,Silent,NM_001172705,exon14,c.G1389A,p.K463K,SNP,SNVindel,exonic,EIF4G2,NA,synonymous SNV,"EIF4G2:NM_001172705:exon14:c.G1389A:p.K463K,EIF4G2:NM_001418:exon14:c.G1389A:p.K463K",NA,NA,NA,NA,NA,NA
chr11,10875828,10875828,G,A,R007_S,ZBED5,Missense_Mutation,NM_001143667,exon3,c.C665T,p.A222V,SNP,SNVindel,exonic,ZBED5,NA,nonsynonymous SNV,"ZBED5:NM_001143667:exon3:c.C665T:p.A222V,ZBED5:NM_021211:exon3:c.C665T:p.A222V",T,N,N,T,N,T
chr11,11863745,11863745,G,A,R007_S,USP47,Missense_Mutation,NM_001282659,exon1,c.G13A,p.E5K,SNP,SNVindel,exonic,USP47,NA,nonsynonymous SNV,"USP47:NM_001282659:exon1:c.G13A:p.E5K,USP47:NM_001330208:exon1:c.G13A:p.E5K,USP47:NM_017944:exon1:c.G13A:p.E5K",T,.,D,T,N,T
chr11,11976596,11976596,C,T,R007_S,USP47,Missense_Mutation,NM_017944,exon26,c.C3574T,p.P1192S,SNP,SNVindel,exonic,USP47,NA,nonsynonymous SNV,"USP47:NM_017944:exon26:c.C3574T:p.P1192S,USP47:NM_001282659:exon27:c.C3778T:p.P1260S,USP47:NM_001330208:exon28:c.C3838T:p.P1280S",D,D,D,T,D,T
chr11,12281545,12281545,C,T,R007_S,MICAL2,Silent,NM_001282667,exon18,c.C2694T,p.L898L,SNP,SNVindel,exonic,MICAL2,NA,synonymous SNV,"MICAL2:NM_001282667:exon18:c.C2694T:p.L898L,MICAL2:NM_001282666:exon19:c.C2757T:p.L919L",NA,NA,NA,NA,NA,NA
chr11,14287084,14287084,C,T,R007_S,SPON1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SPON1,NA,unknown,UNKNOWN,.,D,.,T,.,T
chr11,14632522,14632522,C,T,R007_S,PSMA1,Missense_Mutation,NM_148976,exon2,c.G11A,p.S4N,SNP,SNVindel,exonic,PSMA1,NA,nonsynonymous SNV,PSMA1:NM_148976:exon2:c.G11A:p.S4N,T,U,N,T,N,T
chr11,16824525,16824525,C,T,R007_S,PLEKHA7,Silent,NM_001329630,exon15,c.G2151A,p.E717E,SNP,SNVindel,exonic,PLEKHA7,NA,synonymous SNV,"PLEKHA7:NM_001329630:exon15:c.G2151A:p.E717E,PLEKHA7:NM_001329631:exon15:c.G2151A:p.E717E,PLEKHA7:NM_175058:exon15:c.G2151A:p.E717E",NA,NA,NA,NA,NA,NA
chr11,16838761,16838761,G,A,R007_S,PLEKHA7,Silent,NM_001329630,exon11,c.C1452T,p.S484S,SNP,SNVindel,exonic,PLEKHA7,NA,synonymous SNV,"PLEKHA7:NM_001329630:exon11:c.C1452T:p.S484S,PLEKHA7:NM_001329631:exon11:c.C1452T:p.S484S,PLEKHA7:NM_175058:exon11:c.C1452T:p.S484S",NA,NA,NA,NA,NA,NA
chr11,17156455,17156455,G,A,R007_S,PIK3C2A,Silent,NM_001321380,exon10,c.C879T,p.S293S,SNP,SNVindel,exonic,PIK3C2A,NA,synonymous SNV,"PIK3C2A:NM_001321380:exon10:c.C879T:p.S293S,PIK3C2A:NM_002645:exon11:c.C2019T:p.S673S,PIK3C2A:NM_001321378:exon12:c.C2019T:p.S673S",NA,NA,NA,NA,NA,NA
chr11,17432192,17432192,G,A,R007_S,ABCC8,Silent,NM_000352,exon22,c.C2565T,p.P855P,SNP,SNVindel,exonic,ABCC8,NA,synonymous SNV,"ABCC8:NM_000352:exon22:c.C2565T:p.P855P,ABCC8:NM_001287174:exon22:c.C2568T:p.P856P,ABCC8:NM_001351295:exon22:c.C2631T:p.P877P,ABCC8:NM_001351296:exon22:c.C2565T:p.P855P,ABCC8:NM_001351297:exon22:c.C2562T:p.P854P",NA,NA,NA,NA,NA,NA
chr11,17632624,17632624,C,T,R007_S,OTOG,Missense_Mutation,NM_001277269,exon35,c.C5813T,p.S1938F,SNP,SNVindel,exonic,OTOG,NA,nonsynonymous SNV,"OTOG:NM_001277269:exon35:c.C5813T:p.S1938F,OTOG:NM_001292063:exon36:c.C5777T:p.S1926F",D,N,N,T,N,T
chr11,17633820,17633820,C,T,R007_S,OTOG,Silent,NM_001277269,exon36,c.C6271T,p.L2091L,SNP,SNVindel,exonic,OTOG,NA,synonymous SNV,"OTOG:NM_001277269:exon36:c.C6271T:p.L2091L,OTOG:NM_001292063:exon37:c.C6235T:p.L2079L",NA,NA,NA,NA,NA,NA
chr11,17656431,17656431,C,T,R007_S,OTOG,Silent,NM_001277269,exon44,c.C7557T,p.C2519C,SNP,SNVindel,exonic,OTOG,NA,synonymous SNV,"OTOG:NM_001277269:exon44:c.C7557T:p.C2519C,OTOG:NM_001292063:exon45:c.C7521T:p.C2507C",NA,NA,NA,NA,NA,NA
chr11,17663684,17663684,C,T,R007_S,OTOG,Missense_Mutation,NM_001277269,exon52,c.C8342T,p.S2781F,SNP,SNVindel,exonic,OTOG,NA,nonsynonymous SNV,"OTOG:NM_001277269:exon52:c.C8342T:p.S2781F,OTOG:NM_001292063:exon53:c.C8306T:p.S2769F",D,U,D,T,D,T
chr11,18022095,18022095,C,T,R007_S,SERGEF,Missense_Mutation,NM_012139,exon5,c.G457A,p.E153K,SNP,SNVindel,exonic,SERGEF,NA,nonsynonymous SNV,SERGEF:NM_012139:exon5:c.G457A:p.E153K,T,N,D,T,N,T
chr11,18586463,18586463,G,A,R007_S,UEVLD,Silent,NM_001261384,exon4,c.C198T,p.A66A,SNP,SNVindel,exonic,UEVLD,NA,synonymous SNV,"UEVLD:NM_001261384:exon4:c.C198T:p.A66A,UEVLD:NM_001261386:exon4:c.C288T:p.A96A,UEVLD:NM_001261382:exon5:c.C522T:p.A174A,UEVLD:NM_001261383:exon5:c.C522T:p.A174A,UEVLD:NM_001040697:exon6:c.C588T:p.A196A,UEVLD:NM_001261385:exon6:c.C474T:p.A158A,UEVLD:NM_001297771:exon6:c.C588T:p.A196A,UEVLD:NM_018314:exon6:c.C588T:p.A196A",NA,NA,NA,NA,NA,NA
chr11,18723242,18723242,C,T,R007_S,TMEM86A,Missense_Mutation,NM_153347,exon3,c.C409T,p.P137S,SNP,SNVindel,exonic,TMEM86A,NA,nonsynonymous SNV,TMEM86A:NM_153347:exon3:c.C409T:p.P137S,T,D,D,T,D,T
chr11,18728665,18728665,C,T,R007_S,IGSF22,Missense_Mutation,NM_173588,exon21,c.G3376A,p.G1126S,SNP,SNVindel,exonic,IGSF22,NA,nonsynonymous SNV,IGSF22:NM_173588:exon21:c.G3376A:p.G1126S,T,.,N,T,N,T
chr11,19259421,19259421,C,T,R007_S,E2F8,Missense_Mutation,NM_001256371,exon3,c.G274A,p.E92K,SNP,SNVindel,exonic,E2F8,NA,nonsynonymous SNV,"E2F8:NM_001256371:exon3:c.G274A:p.E92K,E2F8:NM_001256372:exon3:c.G274A:p.E92K,E2F8:NM_024680:exon3:c.G274A:p.E92K",D,N,D,T,N,T
chr11,20005724,20005724,C,T,R007_S,NAV2,Missense_Mutation,NM_001111018,exon11,c.C2507T,p.P836L,SNP,SNVindel,exonic,NAV2,NA,nonsynonymous SNV,"NAV2:NM_001111018:exon11:c.C2507T:p.P836L,NAV2:NM_145117:exon11:c.C2699T:p.P900L,NAV2:NM_182964:exon11:c.C2699T:p.P900L,NAV2:NM_001244963:exon12:c.C2768T:p.P923L",T,D,D,T,D,T
chr11,20077348,20077348,C,T,R007_S,NAV2,Missense_Mutation,NM_001111019,exon9,c.C1868T,p.S623F,SNP,SNVindel,exonic,NAV2,NA,nonsynonymous SNV,"NAV2:NM_001111019:exon9:c.C1868T:p.S623F,NAV2:NM_001111018:exon19:c.C4484T:p.S1495F,NAV2:NM_145117:exon19:c.C4676T:p.S1559F,NAV2:NM_182964:exon19:c.C4676T:p.S1559F,NAV2:NM_001244963:exon20:c.C4745T:p.S1582F",D,D,D,T,N,T
chr11,20078094,20078094,C,T,R007_S,NAV2,Missense_Mutation,NM_001244963,exon21,c.C4919T,p.S1640F,SNP,SNVindel,exonic,NAV2,NA,nonsynonymous SNV,NAV2:NM_001244963:exon21:c.C4919T:p.S1640F,T,N,N,T,N,T
chr11,20113793,20113793,G,A,R007_S,NAV2,Silent,NM_001111019,exon18,c.G2886A,p.K962K,SNP,SNVindel,exonic,NAV2,NA,synonymous SNV,"NAV2:NM_001111019:exon18:c.G2886A:p.K962K,NAV2:NM_001111018:exon28:c.G5502A:p.K1834K,NAV2:NM_145117:exon28:c.G5694A:p.K1898K,NAV2:NM_182964:exon28:c.G5703A:p.K1901K,NAV2:NM_001244963:exon30:c.G5871A:p.K1957K",NA,NA,NA,NA,NA,NA
chr11,20388903,20388903,C,T,R007_S,HTATIP2,Missense_Mutation,NM_001098523,exon2,c.C379T,p.L127F,SNP,SNVindel,exonic,HTATIP2,NA,nonsynonymous SNV,HTATIP2:NM_001098523:exon2:c.C379T:p.L127F,D,.,N,.,N,T
chr11,20409594,20409594,G,A,R007_S,PRMT3,Missense_Mutation,NM_005788,exon2,c.G58A,p.D20N,SNP,SNVindel,exonic,PRMT3,NA,nonsynonymous SNV,PRMT3:NM_005788:exon2:c.G58A:p.D20N,D,.,D,T,N,T
chr11,20869205,20869205,G,A,R007_S,NELL1,Missense_Mutation,NM_006157,exon4,c.G412A,p.E138K,SNP,SNVindel,exonic,NELL1,NA,nonsynonymous SNV,"NELL1:NM_006157:exon4:c.G412A:p.E138K,NELL1:NM_201551:exon4:c.G412A:p.E138K,NELL1:NM_001288713:exon5:c.G496A:p.E166K",D,D,D,T,D,T
chr11,22399065,22399065,G,A,R007_S,SLC17A6,Missense_Mutation,NM_020346,exon12,c.G1528A,p.E510K,SNP,SNVindel,exonic,SLC17A6,NA,nonsynonymous SNV,SLC17A6:NM_020346:exon12:c.G1528A:p.E510K,T,D,D,T,N,T
chr11,27398747,27398747,C,T,R007_S,LGR4,Missense_Mutation,NM_001346432,exon11,c.G995A,p.R332K,SNP,SNVindel,exonic,LGR4,NA,nonsynonymous SNV,"LGR4:NM_001346432:exon11:c.G995A:p.R332K,LGR4:NM_018490:exon12:c.G1067A:p.R356K",T,N,N,T,N,T
chr11,27520926,27520926,G,A,R007_S,LIN7C,Missense_Mutation,NM_018362,exon4,c.C418T,p.L140F,SNP,SNVindel,exonic,LIN7C,NA,nonsynonymous SNV,LIN7C:NM_018362:exon4:c.C418T:p.L140F,D,D,D,T,D,T
chr11,28057974,28057974,G,A,R007_S,KIF18A,Missense_Mutation,NM_031217,exon14,c.C2186T,p.T729I,SNP,SNVindel,exonic,KIF18A,NA,nonsynonymous SNV,KIF18A:NM_031217:exon14:c.C2186T:p.T729I,T,N,N,T,N,T
chr11,30032788,30032788,G,A,R007_S,KCNA4,Missense_Mutation,NM_002233,exon2,c.C1438T,p.L480F,SNP,SNVindel,exonic,KCNA4,NA,nonsynonymous SNV,KCNA4:NM_002233:exon2:c.C1438T:p.L480F,D,D,D,D,D,D
chr11,32438075,32438075,C,T,R007_S,WT1,Missense_Mutation,NM_001198551,exon5,c.G326A,p.G109E,SNP,SNVindel,exonic,WT1,NA,nonsynonymous SNV,"WT1:NM_001198551:exon5:c.G326A:p.G109E,WT1:NM_024424:exon5:c.G977A:p.G326E,WT1:NM_024426:exon5:c.G977A:p.G326E",D,U,D,T,N,T
chr11,33078774,33078774,T,A,R007_S,TCP11L1,Missense_Mutation,NM_001145541,exon4,c.T410A,p.I137N,SNP,SNVindel,exonic,TCP11L1,NA,nonsynonymous SNV,"TCP11L1:NM_001145541:exon4:c.T410A:p.I137N,TCP11L1:NM_018393:exon4:c.T410A:p.I137N",D,D,D,T,D,T
chr11,33792349,33792349,G,A,R007_S,FBXO3,Silent,NM_012175,exon2,c.C132T,p.S44S,SNP,SNVindel,exonic,FBXO3,NA,synonymous SNV,"FBXO3:NM_012175:exon2:c.C132T:p.S44S,FBXO3:NM_033406:exon2:c.C132T:p.S44S",NA,NA,NA,NA,NA,NA
chr11,34154689,34154689,G,A,R007_S,NAT10,Silent,NM_001144030,exon14,c.G1518A,p.Q506Q,SNP,SNVindel,exonic,NAT10,NA,synonymous SNV,"NAT10:NM_001144030:exon14:c.G1518A:p.Q506Q,NAT10:NM_024662:exon16:c.G1734A:p.Q578Q",NA,NA,NA,NA,NA,NA
chr11,35219791,35219791,C,T,R007_S,CD44,Missense_Mutation,NM_001001389,exon6,c.C791T,p.T264I,SNP,SNVindel,exonic,CD44,NA,nonsynonymous SNV,"CD44:NM_001001389:exon6:c.C791T:p.T264I,CD44:NM_000610:exon7:c.C920T:p.T307I",D,N,D,T,D,T
chr11,35232928,35232928,C,T,R007_S,CD44,Missense_Mutation,NM_001202555,exon6,c.C803T,p.T268I,SNP,SNVindel,exonic,CD44,NA,nonsynonymous SNV,"CD44:NM_001202555:exon6:c.C803T:p.T268I,CD44:NM_001001390:exon8:c.C995T:p.T332I,CD44:NM_001001389:exon13:c.C1613T:p.T538I,CD44:NM_000610:exon14:c.C1742T:p.T581I",D,D,D,T,D,T
chr11,35243230,35243230,G,A,R007_S,CD44,Missense_Mutation,NM_001202556,exon7,c.G769A,p.A257T,SNP,SNVindel,exonic,CD44,NA,nonsynonymous SNV,"CD44:NM_001202556:exon7:c.G769A:p.A257T,CD44:NM_001001391:exon8:c.G832A:p.A278T,CD44:NM_001202557:exon8:c.G832A:p.A278T,CD44:NM_001202555:exon9:c.G1036A:p.A346T,CD44:NM_001001390:exon11:c.G1228A:p.A410T,CD44:NM_001001389:exon16:c.G1846A:p.A616T,CD44:NM_000610:exon17:c.G1975A:p.A659T",D,D,D,T,D,T
chr11,44286405,44286405,C,T,R007_S,ALX4,Silent,NM_021926,exon4,c.G1235A,p.X412X,SNP,SNVindel,exonic,ALX4,NA,synonymous SNV,ALX4:NM_021926:exon4:c.G1235A:p.X412X,NA,NA,NA,NA,NA,NA
chr11,44941452,44941452,C,T,R007_S,TSPAN18,Missense_Mutation,NM_130783,exon8,c.C517T,p.P173S,SNP,SNVindel,exonic,TSPAN18,NA,nonsynonymous SNV,TSPAN18:NM_130783:exon8:c.C517T:p.P173S,D,D,D,D,D,D
chr11,45924955,45924955,G,A,R007_S,MAPK8IP1,Missense_Mutation,NM_005456,exon6,c.G1457A,p.G486E,SNP,SNVindel,exonic,MAPK8IP1,NA,nonsynonymous SNV,MAPK8IP1:NM_005456:exon6:c.G1457A:p.G486E,D,D,D,T,D,T
chr11,45935441,45935441,C,T,R007_S,PEX16,Silent,NM_004813,exon9,c.G816A,p.R272R,SNP,SNVindel,exonic,PEX16,NA,synonymous SNV,"PEX16:NM_004813:exon9:c.G816A:p.R272R,PEX16:NM_057174:exon9:c.G816A:p.R272R",NA,NA,NA,NA,NA,NA
chr11,45955741,45955741,C,T,R007_S,PHF21A,Silent,NM_001101802,exon18,c.G1821A,p.R607R,SNP,SNVindel,exonic,PHF21A,NA,synonymous SNV,"PHF21A:NM_001101802:exon18:c.G1821A:p.R607R,PHF21A:NM_001352026:exon18:c.G1824A:p.R608R,PHF21A:NM_001352030:exon18:c.G1680A:p.R560R,PHF21A:NM_001352031:exon18:c.G1680A:p.R560R,PHF21A:NM_016621:exon18:c.G1683A:p.R561R,PHF21A:NM_001352025:exon19:c.G1824A:p.R608R,PHF21A:NM_001352027:exon19:c.G1824A:p.R608R,PHF21A:NM_001352028:exon19:c.G1683A:p.R561R,PHF21A:NM_001352032:exon20:c.G1680A:p.R560R,PHF21A:NM_001352029:exon21:c.G1683A:p.R561R",NA,NA,NA,NA,NA,NA
chr11,46329379,46329379,G,A,R007_S,CREB3L1,Missense_Mutation,NM_052854,exon3,c.G344A,p.G115E,SNP,SNVindel,exonic,CREB3L1,NA,nonsynonymous SNV,CREB3L1:NM_052854:exon3:c.G344A:p.G115E,T,D,D,T,N,T
chr11,46337907,46337907,G,A,R007_S,CREB3L1,Missense_Mutation,NM_052854,exon9,c.G1102A,p.A368T,SNP,SNVindel,exonic,CREB3L1,NA,nonsynonymous SNV,CREB3L1:NM_052854:exon9:c.G1102A:p.A368T,.,D,D,.,.,T
chr11,46339003,46339003,C,T,R007_S,CREB3L1,Missense_Mutation,NM_052854,exon10,c.C1223T,p.P408L,SNP,SNVindel,exonic,CREB3L1,NA,nonsynonymous SNV,CREB3L1:NM_052854:exon10:c.C1223T:p.P408L,.,N,D,.,.,T
chr11,46367081,46367081,G,A,R007_S,DGKZ,Nonsense_Mutation,NM_201533,exon1,c.G122A,p.W41X,SNP,SNVindel,exonic,DGKZ,NA,stopgain,DGKZ:NM_201533:exon1:c.G122A:p.W41X,.,.,A,.,.,.
chr11,46388079,46388079,G,A,R007_S,DGKZ,Silent,NM_001105540,exon2,c.G273A,p.V91V,SNP,SNVindel,exonic,DGKZ,NA,synonymous SNV,DGKZ:NM_001105540:exon2:c.G273A:p.V91V,NA,NA,NA,NA,NA,NA
chr11,46407483,46407483,C,T,R007_S,CHRM4,Missense_Mutation,NM_000741,exon2,c.G625A,p.V209I,SNP,SNVindel,exonic,CHRM4,NA,nonsynonymous SNV,"CHRM4:NM_000741:exon2:c.G625A:p.V209I,CHRM4:NM_001366692:exon2:c.G625A:p.V209I",T,.,D,T,N,T
chr11,46407488,46407488,G,A,R007_S,CHRM4,Missense_Mutation,NM_000741,exon2,c.C620T,p.P207L,SNP,SNVindel,exonic,CHRM4,NA,nonsynonymous SNV,"CHRM4:NM_000741:exon2:c.C620T:p.P207L,CHRM4:NM_001366692:exon2:c.C620T:p.P207L",D,.,D,T,D,D
chr11,46564855,46564855,G,A,R007_S,AMBRA1,Missense_Mutation,NM_001267782,exon7,c.C712T,p.P238S,SNP,SNVindel,exonic,AMBRA1,NA,nonsynonymous SNV,"AMBRA1:NM_001267782:exon7:c.C712T:p.P238S,AMBRA1:NM_001267783:exon7:c.C712T:p.P238S,AMBRA1:NM_001300731:exon7:c.C712T:p.P238S,AMBRA1:NM_001367468:exon7:c.C712T:p.P238S,AMBRA1:NM_001367469:exon7:c.C712T:p.P238S,AMBRA1:NM_001367470:exon7:c.C175T:p.P59S,AMBRA1:NM_001367471:exon7:c.C712T:p.P238S,AMBRA1:NM_017749:exon7:c.C712T:p.P238S",D,D,D,T,D,T
chr11,46775021,46775021,C,T,R007_S,CKAP5,Silent,NM_014756,exon36,c.G4716A,p.R1572R,SNP,SNVindel,exonic,CKAP5,NA,synonymous SNV,"CKAP5:NM_014756:exon36:c.G4716A:p.R1572R,CKAP5:NM_001008938:exon37:c.G4896A:p.R1632R",NA,NA,NA,NA,NA,NA
chr11,46912014,46912014,G,A,R007_S,LRP4,Missense_Mutation,NM_002334,exon14,c.C1729T,p.P577S,SNP,SNVindel,exonic,LRP4,NA,nonsynonymous SNV,LRP4:NM_002334:exon14:c.C1729T:p.P577S,D,D,D,D,D,D
chr11,47074003,47074003,C,T,R007_S,C11orf49,Missense_Mutation,NM_001278222,exon2,c.C187T,p.P63S,SNP,SNVindel,exonic,C11orf49,NA,nonsynonymous SNV,"C11orf49:NM_001278222:exon2:c.C187T:p.P63S,C11orf49:NM_001003676:exon3:c.C214T:p.P72S,C11orf49:NM_001003677:exon3:c.C214T:p.P72S,C11orf49:NM_001003678:exon3:c.C214T:p.P72S,C11orf49:NM_024113:exon3:c.C214T:p.P72S",T,D,D,T,D,T
chr11,47307057,47307057,G,A,R007_S,MADD,Missense_Mutation,NM_001135943,exon14,c.G2338A,p.E780K,SNP,SNVindel,exonic,MADD,NA,nonsynonymous SNV,"MADD:NM_001135943:exon14:c.G2338A:p.E780K,MADD:NM_001135944:exon14:c.G2338A:p.E780K,MADD:NM_003682:exon14:c.G2467A:p.E823K,MADD:NM_130470:exon14:c.G2467A:p.E823K,MADD:NM_130471:exon14:c.G2338A:p.E780K,MADD:NM_130472:exon14:c.G2338A:p.E780K,MADD:NM_130473:exon14:c.G2467A:p.E823K,MADD:NM_130474:exon14:c.G2338A:p.E780K,MADD:NM_130475:exon14:c.G2467A:p.E823K,MADD:NM_130476:exon14:c.G2467A:p.E823K",D,D,D,T,N,T
chr11,47362561,47362561,G,A,R007_S,MYBPC3,Silent,NM_000256,exon19,c.C1920T,p.P640P,SNP,SNVindel,exonic,MYBPC3,NA,synonymous SNV,MYBPC3:NM_000256:exon19:c.C1920T:p.P640P,NA,NA,NA,NA,NA,NA
chr11,47365175,47365175,G,A,R007_S,MYBPC3,Missense_Mutation,NM_000256,exon13,c.C1091T,p.A364V,SNP,SNVindel,exonic,MYBPC3,NA,nonsynonymous SNV,MYBPC3:NM_000256:exon13:c.C1091T:p.A364V,D,.,D,T,D,T
chr11,47372857,47372857,G,A,R007_S,MYBPC3,Silent,NM_000256,exon2,c.C225T,p.D75D,SNP,SNVindel,exonic,MYBPC3,NA,synonymous SNV,MYBPC3:NM_000256:exon2:c.C225T:p.D75D,NA,NA,NA,NA,NA,NA
chr11,47380482,47380482,C,T,R007_S,SPI1,Missense_Mutation,NM_001080547,exon4,c.G409A,p.G137S,SNP,SNVindel,exonic,SPI1,NA,nonsynonymous SNV,"SPI1:NM_001080547:exon4:c.G409A:p.G137S,SPI1:NM_003120:exon4:c.G406A:p.G136S",T,N,D,T,N,T
chr11,47611676,47611676,G,A,R007_S,C1QTNF4,Silent,NM_031909,exon2,c.C687T,p.Y229Y,SNP,SNVindel,exonic,C1QTNF4,NA,synonymous SNV,C1QTNF4:NM_031909:exon2:c.C687T:p.Y229Y,NA,NA,NA,NA,NA,NA
chr11,47814412,47814412,G,A,R007_S,NUP160,Silent,NM_015231,exon28,c.C3376T,p.L1126L,SNP,SNVindel,exonic,NUP160,NA,synonymous SNV,NUP160:NM_015231:exon28:c.C3376T:p.L1126L,NA,NA,NA,NA,NA,NA
chr11,47819976,47819976,C,T,R007_S,NUP160,Missense_Mutation,NM_015231,exon24,c.G2935A,p.V979I,SNP,SNVindel,exonic,NUP160,NA,nonsynonymous SNV,NUP160:NM_015231:exon24:c.G2935A:p.V979I,T,D,D,T,N,T
chr11,48134447,48134447,A,G,R007_S,PTPRJ,Silent,NM_001098503,exon3,c.A264G,p.E88E,SNP,SNVindel,exonic,PTPRJ,NA,synonymous SNV,"PTPRJ:NM_001098503:exon3:c.A264G:p.E88E,PTPRJ:NM_002843:exon3:c.A264G:p.E88E",NA,NA,NA,NA,NA,NA
chr11,48146708,48146708,G,A,R007_S,PTPRJ,Missense_Mutation,NM_001098503,exon6,c.G1063A,p.G355R,SNP,SNVindel,exonic,PTPRJ,NA,nonsynonymous SNV,"PTPRJ:NM_001098503:exon6:c.G1063A:p.G355R,PTPRJ:NM_002843:exon6:c.G1063A:p.G355R",T,.,D,T,D,T
chr11,48175364,48175364,G,A,R007_S,PTPRJ,Missense_Mutation,NM_002843,exon19,c.G3155A,p.G1052E,SNP,SNVindel,exonic,PTPRJ,NA,nonsynonymous SNV,PTPRJ:NM_002843:exon19:c.G3155A:p.G1052E,D,.,D,T,D,T
chr11,55339925,55339925,C,T,R007_S,OR4C16,Silent,NM_001004701,exon1,c.C322T,p.L108L,SNP,SNVindel,exonic,OR4C16,NA,synonymous SNV,OR4C16:NM_001004701:exon1:c.C322T:p.L108L,NA,NA,NA,NA,NA,NA
chr11,55681981,55681981,G,A,R007_S,OR5W2,Silent,NM_001001960,exon1,c.C78T,p.T26T,SNP,SNVindel,exonic,OR5W2,NA,synonymous SNV,OR5W2:NM_001001960:exon1:c.C78T:p.T26T,NA,NA,NA,NA,NA,NA
chr11,55735628,55735628,G,A,R007_S,OR10AG1,Silent,NM_001005491,exon1,c.C312T,p.L104L,SNP,SNVindel,exonic,OR10AG1,NA,synonymous SNV,OR10AG1:NM_001005491:exon1:c.C312T:p.L104L,NA,NA,NA,NA,NA,NA
chr11,55904476,55904476,G,A,R007_S,OR8J3,Missense_Mutation,NM_001004064,exon1,c.C719T,p.T240I,SNP,SNVindel,exonic,OR8J3,NA,nonsynonymous SNV,OR8J3:NM_001004064:exon1:c.C719T:p.T240I,D,D,D,T,D,D
chr11,57076565,57076565,C,T,R007_S,TNKS1BP1,Missense_Mutation,NM_033396,exon6,c.G3620A,p.G1207D,SNP,SNVindel,exonic,TNKS1BP1,NA,nonsynonymous SNV,TNKS1BP1:NM_033396:exon6:c.G3620A:p.G1207D,T,N,N,T,N,T
chr11,57080362,57080362,C,T,R007_S,TNKS1BP1,Silent,NM_033396,exon5,c.G1800A,p.E600E,SNP,SNVindel,exonic,TNKS1BP1,NA,synonymous SNV,TNKS1BP1:NM_033396:exon5:c.G1800A:p.E600E,NA,NA,NA,NA,NA,NA
chr11,57100122,57100122,C,T,R007_S,SSRP1,Missense_Mutation,NM_003146,exon6,c.G745A,p.D249N,SNP,SNVindel,exonic,SSRP1,NA,nonsynonymous SNV,SSRP1:NM_003146:exon6:c.G745A:p.D249N,D,D,D,T,D,T
chr11,57101000,57101000,G,A,R007_S,SSRP1,Silent,NM_003146,exon4,c.C255T,p.L85L,SNP,SNVindel,exonic,SSRP1,NA,synonymous SNV,SSRP1:NM_003146:exon4:c.C255T:p.L85L,NA,NA,NA,NA,NA,NA
chr11,57263543,57263543,G,A,R007_S,SLC43A1,Missense_Mutation,NM_001198810,exon7,c.C653T,p.P218L,SNP,SNVindel,exonic,SLC43A1,NA,nonsynonymous SNV,"SLC43A1:NM_001198810:exon7:c.C653T:p.P218L,SLC43A1:NM_003627:exon7:c.C653T:p.P218L",D,D,D,T,D,T
chr11,57296292,57296292,C,T,R007_S,TIMM10,Silent,NM_012456,exon3,c.G171A,p.K57K,SNP,SNVindel,exonic,TIMM10,NA,synonymous SNV,TIMM10:NM_012456:exon3:c.G171A:p.K57K,NA,NA,NA,NA,NA,NA
chr11,57512348,57512348,G,A,R007_S,BTBD18,Missense_Mutation,NM_001145101,exon3,c.C1397T,p.P466L,SNP,SNVindel,exonic,BTBD18,NA,nonsynonymous SNV,BTBD18:NM_001145101:exon3:c.C1397T:p.P466L,D,.,N,D,N,T
chr11,57512659,57512659,C,T,R007_S,BTBD18,Silent,NM_001145101,exon3,c.G1086A,p.K362K,SNP,SNVindel,exonic,BTBD18,NA,synonymous SNV,BTBD18:NM_001145101:exon3:c.G1086A:p.K362K,NA,NA,NA,NA,NA,NA
chr11,57886071,57886071,G,A,R007_S,OR9I1,Silent,NM_001005211,exon1,c.C846T,p.I282I,SNP,SNVindel,exonic,OR9I1,NA,synonymous SNV,OR9I1:NM_001005211:exon1:c.C846T:p.I282I,NA,NA,NA,NA,NA,NA
chr11,58125851,58125851,C,T,R007_S,OR5B17,Missense_Mutation,NM_001005489,exon1,c.G692A,p.G231E,SNP,SNVindel,exonic,OR5B17,NA,nonsynonymous SNV,OR5B17:NM_001005489:exon1:c.G692A:p.G231E,D,U,N,T,D,T
chr11,58126194,58126194,C,T,R007_S,OR5B17,Missense_Mutation,NM_001005489,exon1,c.G349A,p.A117T,SNP,SNVindel,exonic,OR5B17,NA,nonsynonymous SNV,OR5B17:NM_001005489:exon1:c.G349A:p.A117T,D,U,N,T,D,T
chr11,58170252,58170252,C,T,R007_S,OR5B3,Missense_Mutation,NM_001005469,exon1,c.G631A,p.V211I,SNP,SNVindel,exonic,OR5B3,NA,nonsynonymous SNV,OR5B3:NM_001005469:exon1:c.G631A:p.V211I,T,N,N,T,N,T
chr11,59189699,59189699,G,A,R007_S,OR5A2,Missense_Mutation,NM_001001954,exon1,c.C728T,p.A243V,SNP,SNVindel,exonic,OR5A2,NA,nonsynonymous SNV,OR5A2:NM_001001954:exon1:c.C728T:p.A243V,D,U,N,T,D,T
chr11,59210707,59210707,C,T,R007_S,OR5A1,Silent,NM_001004728,exon1,c.C66T,p.D22D,SNP,SNVindel,exonic,OR5A1,NA,synonymous SNV,OR5A1:NM_001004728:exon1:c.C66T:p.D22D,NA,NA,NA,NA,NA,NA
chr11,59347661,59347661,C,T,R007_S,OSBP,Missense_Mutation,NM_002556,exon11,c.G1864A,p.D622N,SNP,SNVindel,exonic,OSBP,NA,nonsynonymous SNV,OSBP:NM_002556:exon11:c.G1864A:p.D622N,D,D,D,T,D,T
chr11,59603386,59603386,C,T,R007_S,CBLIF,Missense_Mutation,NM_005142,exon7,c.G968A,p.R323K,SNP,SNVindel,exonic,CBLIF,NA,nonsynonymous SNV,CBLIF:NM_005142:exon7:c.G968A:p.R323K,T,N,N,T,N,T
chr11,59620735,59620735,G,A,R007_S,TCN1,Missense_Mutation,NM_001062,exon8,c.C1181T,p.A394V,SNP,SNVindel,exonic,TCN1,NA,nonsynonymous SNV,TCN1:NM_001062:exon8:c.C1181T:p.A394V,D,N,N,T,D,T
chr11,60198377,60198377,C,T,R007_S,MS4A5,Missense_Mutation,NM_023945,exon2,c.C262T,p.P88S,SNP,SNVindel,exonic,MS4A5,NA,nonsynonymous SNV,MS4A5:NM_023945:exon2:c.C262T:p.P88S,T,N,N,T,D,T
chr11,60511444,60511444,C,T,R007_S,MS4A18,Missense_Mutation,NM_001354471,exon7,c.C1174T,p.P392S,SNP,SNVindel,exonic,MS4A18,NA,nonsynonymous SNV,MS4A18:NM_001354471:exon7:c.C1174T:p.P392S,.,.,.,.,.,T
chr11,60609796,60609796,C,T,R007_S,CCDC86,Missense_Mutation,NM_024098,exon1,c.C199T,p.P67S,SNP,SNVindel,exonic,CCDC86,NA,nonsynonymous SNV,CCDC86:NM_024098:exon1:c.C199T:p.P67S,T,N,N,T,N,T
chr11,60620956,60620956,G,A,R007_S,PTGDR2,Silent,NM_004778,exon2,c.C240T,p.A80A,SNP,SNVindel,exonic,PTGDR2,NA,synonymous SNV,PTGDR2:NM_004778:exon2:c.C240T:p.A80A,NA,NA,NA,NA,NA,NA
chr11,60670320,60670320,G,A,R007_S,PRPF19,Nonsense_Mutation,NM_014502,exon4,c.C280T,p.Q94X,SNP,SNVindel,exonic,PRPF19,NA,stopgain,PRPF19:NM_014502:exon4:c.C280T:p.Q94X,.,D,A,.,.,.
chr11,60714268,60714268,G,A,R007_S,SLC15A3,Missense_Mutation,NM_016582,exon2,c.C584T,p.T195I,SNP,SNVindel,exonic,SLC15A3,NA,nonsynonymous SNV,SLC15A3:NM_016582:exon2:c.C584T:p.T195I,T,N,D,T,D,T
chr11,60785296,60785296,C,T,R007_S,CD6,Missense_Mutation,NM_001254750,exon10,c.C1552T,p.P518S,SNP,SNVindel,exonic,CD6,NA,nonsynonymous SNV,"CD6:NM_001254750:exon10:c.C1552T:p.P518S,CD6:NM_001254751:exon10:c.C1525T:p.P509S,CD6:NM_006725:exon11:c.C1648T:p.P550S",D,N,N,T,D,T
chr11,61124178,61124178,G,A,R007_S,CYB561A3,Missense_Mutation,NM_001161452,exon1,c.C8T,p.S3F,SNP,SNVindel,exonic,CYB561A3,NA,nonsynonymous SNV,"CYB561A3:NM_001161452:exon1:c.C8T:p.S3F,CYB561A3:NM_001300763:exon3:c.C8T:p.S3F,CYB561A3:NM_153611:exon3:c.C8T:p.S3F,CYB561A3:NM_001161454:exon4:c.C59T:p.S20F",T,N,N,T,N,T
chr11,61133630,61133630,C,T,R007_S,TMEM138,Missense_Mutation,NM_001330281,exon3,c.C68T,p.T23I,SNP,SNVindel,exonic,TMEM138,NA,nonsynonymous SNV,"TMEM138:NM_001330281:exon3:c.C68T:p.T23I,TMEM138:NM_016464:exon3:c.C242T:p.T81I",T,D,D,D,D,D
chr11,61313581,61313581,C,T,R007_S,SYT7,Missense_Mutation,NM_001252065,exon4,c.G362A,p.G121D,SNP,SNVindel,exonic,SYT7,NA,nonsynonymous SNV,"SYT7:NM_001252065:exon4:c.G362A:p.G121D,SYT7:NM_001365809:exon5:c.G494A:p.G165D",T,.,D,T,N,T
chr11,61580051,61580051,G,A,R007_S,FADS1,Silent,NM_013402,exon3,c.C576T,p.Y192Y,SNP,SNVindel,exonic,FADS1,NA,synonymous SNV,FADS1:NM_013402:exon3:c.C576T:p.Y192Y,NA,NA,NA,NA,NA,NA
chr11,61646229,61646229,C,T,R007_S,FADS3,Missense_Mutation,NM_021727,exon4,c.G613A,p.G205R,SNP,SNVindel,exonic,FADS3,NA,nonsynonymous SNV,FADS3:NM_021727:exon4:c.G613A:p.G205R,D,.,D,T,D,T
chr11,61895723,61895723,C,T,R007_S,INCENP,Silent,NM_001040694,exon2,c.C90T,p.D30D,SNP,SNVindel,exonic,INCENP,NA,synonymous SNV,"INCENP:NM_001040694:exon2:c.C90T:p.D30D,INCENP:NM_020238:exon2:c.C90T:p.D30D",NA,NA,NA,NA,NA,NA
chr11,61959622,61959622,G,A,R007_S,SCGB1D1,Silent,NM_006552,exon2,c.G150A,p.K50K,SNP,SNVindel,exonic,SCGB1D1,NA,synonymous SNV,SCGB1D1:NM_006552:exon2:c.G150A:p.K50K,NA,NA,NA,NA,NA,NA
chr11,62285366,62285366,C,T,R007_S,AHNAK,Missense_Mutation,NM_001346445,exon5,c.G16523A,p.G5508D,SNP,SNVindel,exonic,AHNAK,NA,nonsynonymous SNV,"AHNAK:NM_001346445:exon5:c.G16523A:p.G5508D,AHNAK:NM_001346446:exon5:c.G16523A:p.G5508D,AHNAK:NM_001620:exon5:c.G16523A:p.G5508D",T,U,N,T,N,T
chr11,62295081,62295081,C,T,R007_S,AHNAK,Missense_Mutation,NM_001346445,exon5,c.G6808A,p.A2270T,SNP,SNVindel,exonic,AHNAK,NA,nonsynonymous SNV,"AHNAK:NM_001346445:exon5:c.G6808A:p.A2270T,AHNAK:NM_001346446:exon5:c.G6808A:p.A2270T,AHNAK:NM_001620:exon5:c.G6808A:p.A2270T",T,U,N,T,N,T
chr11,62342888,62342888,C,T,R007_S,TUT1,Missense_Mutation,NM_022830,exon9,c.G2303A,p.C768Y,SNP,SNVindel,exonic,TUT1,NA,nonsynonymous SNV,TUT1:NM_022830:exon9:c.G2303A:p.C768Y,D,D,N,T,D,T
chr11,62343424,62343424,C,T,R007_S,TUT1,Nonsense_Mutation,NM_022830,exon9,c.G1767A,p.W589X,SNP,SNVindel,exonic,TUT1,NA,stopgain,TUT1:NM_022830:exon9:c.G1767A:p.W589X,.,D,D,.,.,.
chr11,62383261,62383261,C,T,R007_S,B3GAT3,Nonsense_Mutation,NM_012200,exon5,c.G920A,p.W307X,SNP,SNVindel,exonic,B3GAT3,NA,stopgain,"B3GAT3:NM_012200:exon5:c.G920A:p.W307X,B3GAT3:NM_001288721:exon6:c.G899A:p.W300X",.,D,D,.,.,.
chr11,62397070,62397070,G,A,R007_S,GANAB,Silent,NM_001278193,exon12,c.C1482T,p.S494S,SNP,SNVindel,exonic,GANAB,NA,synonymous SNV,"GANAB:NM_001278193:exon12:c.C1482T:p.S494S,GANAB:NM_001278192:exon13:c.C1548T:p.S516S,GANAB:NM_001278194:exon14:c.C1533T:p.S511S,GANAB:NM_001329222:exon15:c.C1533T:p.S511S,GANAB:NM_001329223:exon15:c.C1533T:p.S511S,GANAB:NM_001329224:exon15:c.C1101T:p.S367S,GANAB:NM_001329225:exon15:c.C1101T:p.S367S,GANAB:NM_198334:exon15:c.C1824T:p.S608S,GANAB:NM_198335:exon16:c.C1890T:p.S630S",NA,NA,NA,NA,NA,NA
chr11,62397414,62397414,G,A,R007_S,GANAB,Missense_Mutation,NM_001278193,exon11,c.C1267T,p.L423F,SNP,SNVindel,exonic,GANAB,NA,nonsynonymous SNV,"GANAB:NM_001278193:exon11:c.C1267T:p.L423F,GANAB:NM_001278192:exon12:c.C1333T:p.L445F,GANAB:NM_001278194:exon13:c.C1318T:p.L440F,GANAB:NM_001329222:exon14:c.C1318T:p.L440F,GANAB:NM_001329223:exon14:c.C1318T:p.L440F,GANAB:NM_001329224:exon14:c.C886T:p.L296F,GANAB:NM_001329225:exon14:c.C886T:p.L296F,GANAB:NM_198334:exon14:c.C1609T:p.L537F,GANAB:NM_198335:exon15:c.C1675T:p.L559F",D,D,D,D,D,D
chr11,63176200,63176200,G,A,R007_S,SLC22A9,Missense_Mutation,NM_080866,exon9,c.G1450A,p.A484T,SNP,SNVindel,exonic,SLC22A9,NA,nonsynonymous SNV,SLC22A9:NM_080866:exon9:c.G1450A:p.A484T,D,N,D,T,D,T
chr11,63488174,63488174,G,A,R007_S,RTN3,Missense_Mutation,NM_001265590,exon2,c.G1864A,p.A622T,SNP,SNVindel,exonic,RTN3,NA,nonsynonymous SNV,"RTN3:NM_001265590:exon2:c.G1864A:p.A622T,RTN3:NM_201428:exon2:c.G2143A:p.A715T,RTN3:NM_001265589:exon3:c.G2200A:p.A734T",T,N,N,T,N,T
chr11,63530987,63530987,G,A,R007_S,C11orf95,Missense_Mutation,NM_001144936,exon5,c.C1940T,p.A647V,SNP,SNVindel,exonic,C11orf95,NA,nonsynonymous SNV,C11orf95:NM_001144936:exon5:c.C1940T:p.A647V,.,.,.,.,.,.
chr11,63679800,63679800,G,A,R007_S,RCOR2,Missense_Mutation,NM_173587,exon11,c.C1234T,p.P412S,SNP,SNVindel,exonic,RCOR2,NA,nonsynonymous SNV,RCOR2:NM_173587:exon11:c.C1234T:p.P412S,T,N,N,T,N,T
chr11,63681766,63681766,C,T,R007_S,RCOR2,Silent,NM_001363648,exon7,c.G642A,p.E214E,SNP,SNVindel,exonic,RCOR2,NA,synonymous SNV,"RCOR2:NM_001363648:exon7:c.G642A:p.E214E,RCOR2:NM_173587:exon7:c.G642A:p.E214E",NA,NA,NA,NA,NA,NA
chr11,64026609,64026609,C,T,R007_S,PLCB3,Missense_Mutation,NM_001184883,exon11,c.C1217T,p.P406L,SNP,SNVindel,exonic,PLCB3,NA,nonsynonymous SNV,"PLCB3:NM_001184883:exon11:c.C1217T:p.P406L,PLCB3:NM_000932:exon13:c.C1418T:p.P473L,PLCB3:NM_001316314:exon13:c.C1418T:p.P473L",T,N,D,T,N,T
chr11,64060579,64060579,C,T,R007_S,KCNK4,Missense_Mutation,NM_001317090,exon2,c.C89T,p.P30L,SNP,SNVindel,exonic,KCNK4,NA,nonsynonymous SNV,"KCNK4:NM_001317090:exon2:c.C89T:p.P30L,KCNK4:NM_033310:exon2:c.C89T:p.P30L",D,N,D,T,D,T
chr11,64107777,64107777,G,A,R007_S,CCDC88B,Silent,NM_032251,exon1,c.G39A,p.L13L,SNP,SNVindel,exonic,CCDC88B,NA,synonymous SNV,CCDC88B:NM_032251:exon1:c.G39A:p.L13L,NA,NA,NA,NA,NA,NA
chr11,64110035,64110035,C,T,R007_S,CCDC88B,Silent,NM_032251,exon10,c.C945T,p.Y315Y,SNP,SNVindel,exonic,CCDC88B,NA,synonymous SNV,CCDC88B:NM_032251:exon10:c.C945T:p.Y315Y,NA,NA,NA,NA,NA,NA
chr11,64121488,64121488,G,A,R007_S,CCDC88B,Nonsense_Mutation,NM_032251,exon24,c.G3945A,p.W1315X,SNP,SNVindel,exonic,CCDC88B,NA,stopgain,CCDC88B:NM_032251:exon24:c.G3945A:p.W1315X,.,.,A,.,.,.
chr11,64545854,64545854,C,T,R007_S,SF1,Missense_Mutation,NM_001178030,exon1,c.G11A,p.G4E,SNP,SNVindel,exonic,SF1,NA,nonsynonymous SNV,"SF1:NM_001178030:exon1:c.G11A:p.G4E,SF1:NM_001346363:exon1:c.G11A:p.G4E,SF1:NM_001346364:exon1:c.G11A:p.G4E,SF1:NM_004630:exon1:c.G11A:p.G4E,SF1:NM_201995:exon1:c.G11A:p.G4E,SF1:NM_201997:exon1:c.G11A:p.G4E,SF1:NM_201998:exon1:c.G11A:p.G4E",D,U,D,T,N,T
chr11,64681865,64681865,G,A,R007_S,ATG2A,Silent,NM_001367971,exon2,c.C279T,p.H93H,SNP,SNVindel,exonic,ATG2A,NA,synonymous SNV,"ATG2A:NM_001367971:exon2:c.C279T:p.H93H,ATG2A:NM_001367972:exon2:c.C279T:p.H93H,ATG2A:NM_015104:exon2:c.C279T:p.H93H",NA,NA,NA,NA,NA,NA
chr11,64876842,64876842,C,T,R007_S,VPS51,Missense_Mutation,NM_013265,exon6,c.C1534T,p.P512S,SNP,SNVindel,exonic,VPS51,NA,nonsynonymous SNV,VPS51:NM_013265:exon6:c.C1534T:p.P512S,T,D,D,.,N,T
chr11,64898438,64898438,C,T,R007_S,SYVN1,Missense_Mutation,NM_032431,exon10,c.G894A,p.M298I,SNP,SNVindel,exonic,SYVN1,NA,nonsynonymous SNV,"SYVN1:NM_032431:exon10:c.G894A:p.M298I,SYVN1:NM_172230:exon10:c.G894A:p.M298I",D,D,D,T,D,T
chr11,64939732,64939732,G,A,R007_S,SPDYC,Missense_Mutation,NM_001008778,exon4,c.G274A,p.V92M,SNP,SNVindel,exonic,SPDYC,NA,nonsynonymous SNV,SPDYC:NM_001008778:exon4:c.G274A:p.V92M,D,U,D,.,N,D
chr11,64940304,64940304,C,T,R007_S,SPDYC,Silent,NM_001008778,exon6,c.C666T,p.P222P,SNP,SNVindel,exonic,SPDYC,NA,synonymous SNV,SPDYC:NM_001008778:exon6:c.C666T:p.P222P,NA,NA,NA,NA,NA,NA
chr11,65144097,65144097,C,T,R007_S,SLC25A45,Nonsense_Mutation,NM_001278250,exon5,c.G576A,p.W192X,SNP,SNVindel,exonic,SLC25A45,NA,stopgain,"SLC25A45:NM_001278250:exon5:c.G576A:p.W192X,SLC25A45:NM_001300820:exon5:c.G462A:p.W154X,SLC25A45:NM_001352383:exon5:c.G336A:p.W112X,SLC25A45:NM_001352384:exon5:c.G336A:p.W112X,SLC25A45:NM_001077241:exon6:c.G522A:p.W174X,SLC25A45:NM_001352381:exon6:c.G648A:p.W216X,SLC25A45:NM_001352382:exon7:c.G522A:p.W174X,SLC25A45:NM_182556:exon7:c.G648A:p.W216X,SLC25A45:NM_001278251:exon10:c.G522A:p.W174X",.,.,D,.,.,.
chr11,65314372,65314372,G,A,R007_S,LTBP3,Silent,NM_001130144,exon15,c.C2127T,p.D709D,SNP,SNVindel,exonic,LTBP3,NA,synonymous SNV,"LTBP3:NM_001130144:exon15:c.C2127T:p.D709D,LTBP3:NM_001164266:exon15:c.C1776T:p.D592D,LTBP3:NM_021070:exon15:c.C2127T:p.D709D",NA,NA,NA,NA,NA,NA
chr11,65386296,65386296,C,T,R007_S,PCNX3,Missense_Mutation,NM_032223,exon6,c.C1463T,p.T488I,SNP,SNVindel,exonic,PCNX3,NA,nonsynonymous SNV,PCNX3:NM_032223:exon6:c.C1463T:p.T488I,D,N,D,T,N,T
chr11,65397007,65397007,C,T,R007_S,PCNX3,Silent,NM_032223,exon26,c.C4017T,p.N1339N,SNP,SNVindel,exonic,PCNX3,NA,synonymous SNV,PCNX3:NM_032223:exon26:c.C4017T:p.N1339N,NA,NA,NA,NA,NA,NA
chr11,65412444,65412444,G,A,R007_S,SIPA1,Missense_Mutation,NM_006747,exon5,c.G1003A,p.V335M,SNP,SNVindel,exonic,SIPA1,NA,nonsynonymous SNV,"SIPA1:NM_006747:exon5:c.G1003A:p.V335M,SIPA1:NM_153253:exon5:c.G1003A:p.V335M",D,U,D,D,D,D
chr11,65618311,65618311,C,T,R007_S,SNX32,Silent,NM_152760,exon6,c.C588T,p.G196G,SNP,SNVindel,exonic,SNX32,NA,synonymous SNV,SNX32:NM_152760:exon6:c.C588T:p.G196G,NA,NA,NA,NA,NA,NA
chr11,65685228,65685228,C,T,R007_S,C11orf68,Missense_Mutation,NM_001135635,exon2,c.G584A,p.G195D,SNP,SNVindel,exonic,C11orf68,NA,nonsynonymous SNV,"C11orf68:NM_001135635:exon2:c.G584A:p.G195D,C11orf68:NM_031450:exon2:c.G581A:p.G194D",D,D,D,T,D,T
chr11,65733360,65733360,C,T,R007_S,SART1,Silent,NM_005146,exon7,c.C741T,p.D247D,SNP,SNVindel,exonic,SART1,NA,synonymous SNV,SART1:NM_005146:exon7:c.C741T:p.D247D,NA,NA,NA,NA,NA,NA
chr11,65788403,65788403,C,T,R007_S,CATSPER1,Silent,NM_053054,exon6,c.G1806A,p.R602R,SNP,SNVindel,exonic,CATSPER1,NA,synonymous SNV,CATSPER1:NM_053054:exon6:c.G1806A:p.R602R,NA,NA,NA,NA,NA,NA
chr11,66006299,66006299,G,A,R007_S,PACS1,Missense_Mutation,NM_018026,exon20,c.G2275A,p.D759N,SNP,SNVindel,exonic,PACS1,NA,nonsynonymous SNV,PACS1:NM_018026:exon20:c.G2275A:p.D759N,T,N,N,T,N,T
chr11,66082800,66082800,G,A,R007_S,CD248,Missense_Mutation,NM_020404,exon1,c.C1699T,p.P567S,SNP,SNVindel,exonic,CD248,NA,nonsynonymous SNV,CD248:NM_020404:exon1:c.C1699T:p.P567S,D,N,N,D,N,T
chr11,66103261,66103261,G,A,R007_S,RIN1,Silent,NM_001363559,exon3,c.C270T,p.S90S,SNP,SNVindel,exonic,RIN1,NA,synonymous SNV,"RIN1:NM_001363559:exon3:c.C270T:p.S90S,RIN1:NM_001363560:exon3:c.C354T:p.S118S,RIN1:NM_004292:exon3:c.C354T:p.S118S",.,.,D,.,.,.
chr11,66114916,66114916,G,A,R007_S,B4GAT1,Missense_Mutation,NM_006876,exon1,c.C101T,p.S34F,SNP,SNVindel,exonic,B4GAT1,NA,nonsynonymous SNV,B4GAT1:NM_006876:exon1:c.C101T:p.S34F,D,D,D,T,N,T
chr11,66190264,66190264,G,A,R007_S,NPAS4,Missense_Mutation,NM_178864,exon4,c.G550A,p.G184R,SNP,SNVindel,exonic,NPAS4,NA,nonsynonymous SNV,NPAS4:NM_178864:exon4:c.G550A:p.G184R,T,D,D,T,N,T
chr11,66243282,66243282,G,A,R007_S,PELI3,Missense_Mutation,NM_001243136,exon6,c.G733A,p.D245N,SNP,SNVindel,exonic,PELI3,NA,nonsynonymous SNV,"PELI3:NM_001243136:exon6:c.G733A:p.D245N,PELI3:NM_001098510:exon7:c.G982A:p.D328N,PELI3:NM_001243135:exon7:c.G865A:p.D289N,PELI3:NM_145065:exon8:c.G1054A:p.D352N",T,D,D,T,N,T
chr11,66373308,66373308,G,A,R007_S,CCS,Silent,NM_005125,exon8,c.G807A,p.Q269Q,SNP,SNVindel,exonic,CCS,NA,synonymous SNV,CCS:NM_005125:exon8:c.G807A:p.Q269Q,NA,NA,NA,NA,NA,NA
chr11,66472171,66472171,C,T,R007_S,SPTBN2,Missense_Mutation,NM_006946,exon14,c.G2576A,p.S859N,SNP,SNVindel,exonic,SPTBN2,NA,nonsynonymous SNV,SPTBN2:NM_006946:exon14:c.G2576A:p.S859N,T,D,D,T,N,T
chr11,66472190,66472190,C,T,R007_S,SPTBN2,Missense_Mutation,NM_006946,exon14,c.G2557A,p.A853T,SNP,SNVindel,exonic,SPTBN2,NA,nonsynonymous SNV,SPTBN2:NM_006946:exon14:c.G2557A:p.A853T,T,D,D,T,N,T
chr11,66472522,66472522,C,T,R007_S,SPTBN2,Missense_Mutation,NM_006946,exon14,c.G2225A,p.R742Q,SNP,SNVindel,exonic,SPTBN2,NA,nonsynonymous SNV,SPTBN2:NM_006946:exon14:c.G2225A:p.R742Q,D,N,N,T,N,T
chr11,66473268,66473268,C,T,R007_S,SPTBN2,Missense_Mutation,NM_006946,exon13,c.G1694A,p.G565E,SNP,SNVindel,exonic,SPTBN2,NA,nonsynonymous SNV,SPTBN2:NM_006946:exon13:c.G1694A:p.G565E,T,D,D,T,N,T
chr11,66619277,66619277,C,T,R007_S,PC,Missense_Mutation,NM_022172,exon14,c.G1966A,p.D656N,SNP,SNVindel,exonic,PC,NA,nonsynonymous SNV,"PC:NM_022172:exon14:c.G1966A:p.D656N,PC:NM_000920:exon15:c.G1966A:p.D656N,PC:NM_001040716:exon16:c.G1966A:p.D656N",D,D,D,D,D,D
chr11,67069637,67069637,G,A,R007_S,ANKRD13D,Missense_Mutation,NM_207354,exon15,c.G1652A,p.G551E,SNP,SNVindel,exonic,ANKRD13D,NA,nonsynonymous SNV,"ANKRD13D:NM_207354:exon15:c.G1652A:p.G551E,ANKRD13D:NM_001347901:exon16:c.G1391A:p.G464E",T,N,N,T,N,T
chr11,67176539,67176539,G,A,R007_S,TBC1D10C,Missense_Mutation,NM_001369492,exon6,c.G623A,p.G208E,SNP,SNVindel,exonic,TBC1D10C,NA,nonsynonymous SNV,"TBC1D10C:NM_001369492:exon6:c.G623A:p.G208E,TBC1D10C:NM_001256508:exon8:c.G734A:p.G245E,TBC1D10C:NM_001369495:exon8:c.G625A:p.E209K,TBC1D10C:NM_001369496:exon8:c.G928A:p.E310K,TBC1D10C:NM_001369498:exon8:c.G952A:p.E318K,TBC1D10C:NM_001369494:exon9:c.G625A:p.E209K,TBC1D10C:NM_001369497:exon9:c.G928A:p.E310K,TBC1D10C:NM_198517:exon9:c.G928A:p.E310K",D,D,D,T,D,T
chr11,67191290,67191290,G,A,R007_S,CARNS1,Missense_Mutation,NM_020811,exon9,c.G1702A,p.A568T,SNP,SNVindel,exonic,CARNS1,NA,nonsynonymous SNV,"CARNS1:NM_020811:exon9:c.G1702A:p.A568T,CARNS1:NM_001166222:exon10:c.G2071A:p.A691T",T,N,N,D,N,D
chr11,67208640,67208640,C,T,R007_S,CORO1B,Missense_Mutation,NM_020441,exon6,c.G712A,p.G238S,SNP,SNVindel,exonic,CORO1B,NA,nonsynonymous SNV,"CORO1B:NM_020441:exon6:c.G712A:p.G238S,CORO1B:NM_001018070:exon7:c.G712A:p.G238S",D,N,D,T,D,D
chr11,67817225,67817225,C,T,R007_S,TCIRG1,Silent,NM_006053,exon11,c.C1335T,p.R445R,SNP,SNVindel,exonic,TCIRG1,NA,synonymous SNV,"TCIRG1:NM_006053:exon11:c.C1335T:p.R445R,TCIRG1:NM_001351059:exon15:c.C1089T:p.R363R,TCIRG1:NM_006019:exon16:c.C1983T:p.R661R",NA,NA,NA,NA,NA,NA
chr11,68029508,68029508,C,T,R007_S,C11orf24,Missense_Mutation,NM_022338,exon4,c.G955A,p.A319T,SNP,SNVindel,exonic,C11orf24,NA,nonsynonymous SNV,C11orf24:NM_022338:exon4:c.G955A:p.A319T,T,N,N,T,N,T
chr11,68331796,68331796,C,T,R007_S,PPP6R3,Missense_Mutation,NM_001352353,exon7,c.C385T,p.P129S,SNP,SNVindel,exonic,PPP6R3,NA,nonsynonymous SNV,"PPP6R3:NM_001352353:exon7:c.C385T:p.P129S,PPP6R3:NM_001352347:exon8:c.C196T:p.P66S,PPP6R3:NM_001352351:exon8:c.C598T:p.P200S,PPP6R3:NM_001352355:exon8:c.C598T:p.P200S,PPP6R3:NM_001352359:exon8:c.C598T:p.P200S,PPP6R3:NM_001352361:exon8:c.C598T:p.P200S,PPP6R3:NM_001352370:exon8:c.C598T:p.P200S,PPP6R3:NM_001352374:exon8:c.C598T:p.P200S,PPP6R3:NM_001164160:exon9:c.C871T:p.P291S,PPP6R3:NM_001164161:exon9:c.C871T:p.P291S,PPP6R3:NM_001164162:exon9:c.C871T:p.P291S,PPP6R3:NM_001164163:exon9:c.C871T:p.P291S,PPP6R3:NM_001352350:exon9:c.C871T:p.P291S,PPP6R3:NM_001352352:exon9:c.C871T:p.P291S,PPP6R3:NM_001352356:exon9:c.C871T:p.P291S,PPP6R3:NM_001352357:exon9:c.C196T:p.P66S,PPP6R3:NM_001352358:exon9:c.C871T:p.P291S,PPP6R3:NM_001352365:exon9:c.C871T:p.P291S,PPP6R3:NM_001352366:exon9:c.C871T:p.P291S,PPP6R3:NM_001352369:exon9:c.C196T:p.P66S,PPP6R3:NM_001352373:exon9:c.C871T:p.P291S,PPP6R3:NM_001352377:exon9:c.C871T:p.P291S,PPP6R3:NM_001352378:exon9:c.C598T:p.P200S,PPP6R3:NM_001164164:exon10:c.C871T:p.P291S,PPP6R3:NM_001352348:exon10:c.C871T:p.P291S,PPP6R3:NM_001352354:exon10:c.C871T:p.P291S,PPP6R3:NM_001352360:exon10:c.C871T:p.P291S,PPP6R3:NM_001352362:exon10:c.C871T:p.P291S,PPP6R3:NM_001352363:exon10:c.C871T:p.P291S,PPP6R3:NM_001352364:exon10:c.C871T:p.P291S,PPP6R3:NM_001352368:exon10:c.C871T:p.P291S,PPP6R3:NM_001352371:exon10:c.C871T:p.P291S,PPP6R3:NM_001352372:exon10:c.C871T:p.P291S,PPP6R3:NM_001352375:exon10:c.C871T:p.P291S,PPP6R3:NM_001352376:exon10:c.C871T:p.P291S,PPP6R3:NM_001352380:exon10:c.C871T:p.P291S,PPP6R3:NM_018312:exon10:c.C871T:p.P291S,PPP6R3:NM_001352379:exon11:c.C871T:p.P291S",T,D,D,T,N,T
chr11,68703747,68703747,C,T,R007_S,IGHMBP2,Missense_Mutation,NM_002180,exon13,c.C1799T,p.A600V,SNP,SNVindel,exonic,IGHMBP2,NA,nonsynonymous SNV,IGHMBP2:NM_002180:exon13:c.C1799T:p.A600V,D,D,D,D,D,D
chr11,68822760,68822760,C,T,R007_S,TPCN2,Silent,NM_139075,exon4,c.C369T,p.G123G,SNP,SNVindel,exonic,TPCN2,NA,synonymous SNV,TPCN2:NM_139075:exon4:c.C369T:p.G123G,NA,NA,NA,NA,NA,NA
chr11,69633578,69633578,C,T,R007_S,FGF3,Missense_Mutation,NM_005247,exon1,c.G124A,p.A42T,SNP,SNVindel,exonic,FGF3,NA,nonsynonymous SNV,FGF3:NM_005247:exon1:c.G124A:p.A42T,T,U,D,T,N,T
chr11,70049688,70049688,C,A,R007_S,FADD,Missense_Mutation,NM_003824,exon1,c.C123A,p.S41R,SNP,SNVindel,exonic,FADD,NA,nonsynonymous SNV,FADD:NM_003824:exon1:c.C123A:p.S41R,D,N,N,D,N,T
chr11,70275179,70275179,C,T,R007_S,CTTN,Silent,NM_001184740,exon13,c.C939T,p.I313I,SNP,SNVindel,exonic,CTTN,NA,synonymous SNV,"CTTN:NM_001184740:exon13:c.C939T:p.I313I,CTTN:NM_138565:exon13:c.C939T:p.I313I,CTTN:NM_005231:exon14:c.C1050T:p.I350I",NA,NA,NA,NA,NA,NA
chr11,70507707,70507707,C,T,R007_S,SHANK2,Missense_Mutation,NM_133266,exon1,c.G166A,p.A56T,SNP,SNVindel,exonic,SHANK2,NA,nonsynonymous SNV,SHANK2:NM_133266:exon1:c.G166A:p.A56T,D,D,D,T,D,T
chr11,71169514,71169514,C,T,R007_S,NADSYN1,Missense_Mutation,NM_018161,exon3,c.C187T,p.L63F,SNP,SNVindel,exonic,NADSYN1,NA,nonsynonymous SNV,NADSYN1:NM_018161:exon3:c.C187T:p.L63F,T,N,N,D,N,T
chr11,71711447,71711447,C,T,R007_S,IL18BP,Silent,NM_001145055,exon2,c.C79T,p.L27L,SNP,SNVindel,exonic,IL18BP,NA,synonymous SNV,"IL18BP:NM_001145055:exon2:c.C79T:p.L27L,IL18BP:NM_005699:exon2:c.C79T:p.L27L,IL18BP:NM_173042:exon2:c.C79T:p.L27L,IL18BP:NM_001039660:exon3:c.C79T:p.L27L,IL18BP:NM_001145057:exon3:c.C79T:p.L27L,IL18BP:NM_173044:exon3:c.C79T:p.L27L,IL18BP:NM_001039659:exon4:c.C79T:p.L27L",NA,NA,NA,NA,NA,NA
chr11,71850844,71850844,G,A,R007_S,FOLR3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,FOLR3,NA,unknown,UNKNOWN,.,U,N,.,.,T
chr11,71948637,71948637,G,A,R007_S,INPPL1,Missense_Mutation,NM_001567,exon26,c.G3349A,p.D1117N,SNP,SNVindel,exonic,INPPL1,NA,nonsynonymous SNV,INPPL1:NM_001567:exon26:c.G3349A:p.D1117N,T,D,D,D,N,D
chr11,72469635,72469635,G,A,R007_S,STARD10,Silent,NM_006645,exon4,c.C399T,p.L133L,SNP,SNVindel,exonic,STARD10,NA,synonymous SNV,STARD10:NM_006645:exon4:c.C399T:p.L133L,NA,NA,NA,NA,NA,NA
chr11,72945269,72945269,G,A,R007_S,P2RY2,Missense_Mutation,NM_002564,exon3,c.G65A,p.G22D,SNP,SNVindel,exonic,P2RY2,NA,nonsynonymous SNV,"P2RY2:NM_002564:exon3:c.G65A:p.G22D,P2RY2:NM_176071:exon3:c.G65A:p.G22D,P2RY2:NM_176072:exon3:c.G65A:p.G22D",T,N,D,T,N,T
chr11,73008087,73008087,C,T,R007_S,P2RY6,Missense_Mutation,NM_001277208,exon2,c.C827T,p.T276I,SNP,SNVindel,exonic,P2RY6,NA,nonsynonymous SNV,"P2RY6:NM_001277208:exon2:c.C827T:p.T276I,P2RY6:NM_001277204:exon3:c.C524T:p.T175I,P2RY6:NM_001277206:exon3:c.C524T:p.T175I,P2RY6:NM_001277207:exon3:c.C524T:p.T175I,P2RY6:NM_176797:exon3:c.C524T:p.T175I,P2RY6:NM_001277205:exon4:c.C524T:p.T175I,P2RY6:NM_176796:exon4:c.C524T:p.T175I,P2RY6:NM_176798:exon4:c.C524T:p.T175I",T,D,D,T,N,T
chr11,73072178,73072178,C,T,R007_S,ARHGEF17,Missense_Mutation,NM_014786,exon12,c.C4466T,p.P1489L,SNP,SNVindel,exonic,ARHGEF17,NA,nonsynonymous SNV,ARHGEF17:NM_014786:exon12:c.C4466T:p.P1489L,D,D,D,T,D,T
chr11,73675969,73675969,G,A,R007_S,DNAJB13,Silent,NM_153614,exon4,c.G381A,p.G127G,SNP,SNVindel,exonic,DNAJB13,NA,synonymous SNV,DNAJB13:NM_153614:exon4:c.G381A:p.G127G,NA,NA,NA,NA,NA,NA
chr11,73716802,73716802,C,T,R007_S,UCP3,Missense_Mutation,NM_003356,exon4,c.G514A,p.E172K,SNP,SNVindel,exonic,UCP3,NA,nonsynonymous SNV,"UCP3:NM_003356:exon4:c.G514A:p.E172K,UCP3:NM_022803:exon4:c.G514A:p.E172K",T,D,D,T,N,T
chr11,74009274,74009274,C,T,R007_S,P4HA3,Missense_Mutation,NM_001288748,exon4,c.G700A,p.A234T,SNP,SNVindel,exonic,P4HA3,NA,nonsynonymous SNV,"P4HA3:NM_001288748:exon4:c.G700A:p.A234T,P4HA3:NM_182904:exon4:c.G700A:p.A234T",D,D,D,T,D,T
chr11,74547365,74547365,G,A,R007_S,RNF169,Missense_Mutation,NM_001098638,exon6,c.G1717A,p.V573I,SNP,SNVindel,exonic,RNF169,NA,nonsynonymous SNV,RNF169:NM_001098638:exon6:c.G1717A:p.V573I,T,N,N,T,N,T
chr11,74952230,74952230,G,A,R007_S,TPBGL,Missense_Mutation,NM_001195528,exon1,c.G136A,p.G46R,SNP,SNVindel,exonic,TPBGL,NA,nonsynonymous SNV,TPBGL:NM_001195528:exon1:c.G136A:p.G46R,.,.,.,T,.,.
chr11,76869454,76869454,C,T,R007_S,MYO7A,Silent,NM_000260,exon9,c.C981T,p.H327H,SNP,SNVindel,exonic,MYO7A,NA,synonymous SNV,"MYO7A:NM_000260:exon9:c.C981T:p.H327H,MYO7A:NM_001127180:exon9:c.C981T:p.H327H,MYO7A:NM_001369365:exon10:c.C948T:p.H316H",NA,NA,NA,NA,NA,NA
chr11,77378095,77378095,C,T,R007_S,RSF1,Missense_Mutation,NM_016578,exon16,c.G4193A,p.S1398N,SNP,SNVindel,exonic,RSF1,NA,nonsynonymous SNV,RSF1:NM_016578:exon16:c.G4193A:p.S1398N,T,N,N,D,N,T
chr11,77734228,77734228,G,A,R007_S,KCTD14,Missense_Mutation,NM_023930,exon1,c.C68T,p.S23F,SNP,SNVindel,exonic,KCTD14,NA,nonsynonymous SNV,KCTD14:NM_023930:exon1:c.C68T:p.S23F,T,U,N,T,N,T
chr11,77911727,77911727,C,T,R007_S,USP35,Missense_Mutation,NM_020798,exon6,c.C1070T,p.S357F,SNP,SNVindel,exonic,USP35,NA,nonsynonymous SNV,USP35:NM_020798:exon6:c.C1070T:p.S357F,T,N,D,T,N,T
chr11,77934520,77934520,G,A,R007_S,GAB2,Missense_Mutation,NM_012296,exon6,c.C1391T,p.P464L,SNP,SNVindel,exonic,GAB2,NA,nonsynonymous SNV,"GAB2:NM_012296:exon6:c.C1391T:p.P464L,GAB2:NM_080491:exon6:c.C1505T:p.P502L",T,U,D,T,D,T
chr11,78497943,78497943,C,T,R007_S,TENM4,Missense_Mutation,NM_001098816,exon16,c.G2365A,p.A789T,SNP,SNVindel,exonic,TENM4,NA,nonsynonymous SNV,TENM4:NM_001098816:exon16:c.G2365A:p.A789T,D,U,D,T,N,T
chr11,82444713,82444713,C,T,R007_S,FAM181B,Missense_Mutation,NM_175885,exon1,c.G59A,p.G20D,SNP,SNVindel,exonic,FAM181B,NA,nonsynonymous SNV,FAM181B:NM_175885:exon1:c.G59A:p.G20D,D,U,D,T,N,T
chr11,82877266,82877266,G,A,R007_S,PCF11,Missense_Mutation,NM_001346413,exon5,c.G1327A,p.A443T,SNP,SNVindel,exonic,PCF11,NA,nonsynonymous SNV,"PCF11:NM_001346413:exon5:c.G1327A:p.A443T,PCF11:NM_001346414:exon5:c.G1327A:p.A443T,PCF11:NM_001346415:exon5:c.G1327A:p.A443T,PCF11:NM_015885:exon5:c.G1327A:p.A443T",T,N,N,T,N,T
chr11,82877420,82877420,C,T,R007_S,PCF11,Missense_Mutation,NM_001346413,exon5,c.C1481T,p.S494F,SNP,SNVindel,exonic,PCF11,NA,nonsynonymous SNV,"PCF11:NM_001346413:exon5:c.C1481T:p.S494F,PCF11:NM_001346414:exon5:c.C1481T:p.S494F,PCF11:NM_001346415:exon5:c.C1481T:p.S494F,PCF11:NM_015885:exon5:c.C1481T:p.S494F",D,D,D,T,D,T
chr11,82879818,82879818,G,A,R007_S,PCF11,Missense_Mutation,NM_001346413,exon8,c.G2834A,p.G945E,SNP,SNVindel,exonic,PCF11,NA,nonsynonymous SNV,"PCF11:NM_001346413:exon8:c.G2834A:p.G945E,PCF11:NM_001346414:exon8:c.G2834A:p.G945E,PCF11:NM_001346415:exon8:c.G2441A:p.G814E,PCF11:NM_015885:exon8:c.G2441A:p.G814E",T,D,D,T,N,T
chr11,84027974,84027974,G,A,R007_S,DLG2,Missense_Mutation,NM_001206769,exon1,c.C215T,p.T72I,SNP,SNVindel,exonic,DLG2,NA,nonsynonymous SNV,DLG2:NM_001206769:exon1:c.C215T:p.T72I,T,.,D,T,N,T
chr11,84865651,84865651,C,T,R007_S,DLG2,Silent,NM_001351275,exon4,c.G342A,p.E114E,SNP,SNVindel,exonic,DLG2,NA,synonymous SNV,"DLG2:NM_001351275:exon4:c.G342A:p.E114E,DLG2:NM_001142699:exon5:c.G231A:p.E77E,DLG2:NM_001351274:exon5:c.G342A:p.E114E",NA,NA,NA,NA,NA,NA
chr11,85437513,85437513,G,A,R007_S,SYTL2,Missense_Mutation,NM_206927,exon8,c.C2888T,p.S963F,SNP,SNVindel,exonic,SYTL2,NA,nonsynonymous SNV,"SYTL2:NM_206927:exon8:c.C2888T:p.S963F,SYTL2:NM_206928:exon8:c.C2885T:p.S962F",NA,NA,NA,NA,NA,NA
chr11,85437930,85437930,G,A,R007_S,SYTL2,Missense_Mutation,NM_206927,exon8,c.C2471T,p.A824V,SNP,SNVindel,exonic,SYTL2,NA,nonsynonymous SNV,"SYTL2:NM_206927:exon8:c.C2471T:p.A824V,SYTL2:NM_206928:exon8:c.C2468T:p.A823V",NA,NA,NA,NA,NA,NA
chr11,85448656,85448656,G,A,R007_S,SYTL2,Nonsense_Mutation,NM_001162951,exon4,c.C433T,p.Q145X,SNP,SNVindel,exonic,SYTL2,NA,stopgain,"SYTL2:NM_001162951:exon4:c.C433T:p.Q145X,SYTL2:NM_001162953:exon4:c.C433T:p.Q145X,SYTL2:NM_001289608:exon4:c.C289T:p.Q97X,SYTL2:NM_001365827:exon4:c.C289T:p.Q97X,SYTL2:NM_001365826:exon5:c.C433T:p.Q145X,SYTL2:NM_032943:exon5:c.C433T:p.Q145X,SYTL2:NM_206927:exon5:c.C433T:p.Q145X,SYTL2:NM_206928:exon5:c.C433T:p.Q145X",.,.,A,.,.,.
chr11,85593697,85593697,G,A,R007_S,CCDC83,Missense_Mutation,NM_001286159,exon4,c.G322A,p.D108N,SNP,SNVindel,exonic,CCDC83,NA,nonsynonymous SNV,"CCDC83:NM_001286159:exon4:c.G322A:p.D108N,CCDC83:NM_173556:exon4:c.G322A:p.D108N",T,N,N,T,N,T
chr11,85779696,85779696,C,T,R007_S,PICALM,Missense_Mutation,NM_001008660,exon1,c.G127A,p.D43N,SNP,SNVindel,exonic,PICALM,NA,nonsynonymous SNV,"PICALM:NM_001008660:exon1:c.G127A:p.D43N,PICALM:NM_001206946:exon1:c.G127A:p.D43N,PICALM:NM_007166:exon1:c.G127A:p.D43N",D,D,D,T,D,T
chr11,88027614,88027614,C,T,R007_S,CTSC,Missense_Mutation,NM_001814,exon7,c.G952A,p.E318K,SNP,SNVindel,exonic,CTSC,NA,nonsynonymous SNV,CTSC:NM_001814:exon7:c.G952A:p.E318K,T,D,D,D,D,D
chr11,88911240,88911240,G,A,R007_S,TYR,Missense_Mutation,NM_000372,exon1,c.G119A,p.S40N,SNP,SNVindel,exonic,TYR,NA,nonsynonymous SNV,TYR:NM_000372:exon1:c.G119A:p.S40N,T,N,N,D,N,D
chr11,92534901,92534901,G,T,R007_S,FAT3,Missense_Mutation,NM_001008781,exon9,c.G8722T,p.A2908S,SNP,SNVindel,exonic,FAT3,NA,nonsynonymous SNV,"FAT3:NM_001008781:exon9:c.G8722T:p.A2908S,FAT3:NM_001367949:exon10:c.G8722T:p.A2908S",T,.,N,T,N,T
chr11,92592445,92592445,G,A,R007_S,FAT3,Missense_Mutation,NM_001008781,exon20,c.G11615A,p.G3872E,SNP,SNVindel,exonic,FAT3,NA,nonsynonymous SNV,"FAT3:NM_001008781:exon20:c.G11615A:p.G3872E,FAT3:NM_001367949:exon21:c.G11615A:p.G3872E",D,.,D,D,D,D
chr11,93430185,93430185,G,A,R007_S,CEP295,Missense_Mutation,NM_033395,exon15,c.G2107A,p.A703T,SNP,SNVindel,exonic,CEP295,NA,nonsynonymous SNV,CEP295:NM_033395:exon15:c.G2107A:p.A703T,D,N,N,T,N,T
chr11,93432780,93432780,C,T,R007_S,CEP295,Missense_Mutation,NM_033395,exon15,c.C4702T,p.P1568S,SNP,SNVindel,exonic,CEP295,NA,nonsynonymous SNV,CEP295:NM_033395:exon15:c.C4702T:p.P1568S,T,N,N,T,N,T
chr11,94040683,94040683,C,T,R007_S,IZUMO1R,Missense_Mutation,NM_001199206,exon4,c.C578T,p.S193F,SNP,SNVindel,exonic,IZUMO1R,NA,nonsynonymous SNV,IZUMO1R:NM_001199206:exon4:c.C578T:p.S193F,D,N,D,T,D,D
chr11,94911935,94911935,C,T,R007_S,SESN3,Missense_Mutation,NM_001271594,exon6,c.G578A,p.G193D,SNP,SNVindel,exonic,SESN3,NA,nonsynonymous SNV,"SESN3:NM_001271594:exon6:c.G578A:p.G193D,SESN3:NM_144665:exon7:c.G995A:p.G332D",T,N,N,T,N,T
chr11,94963983,94963983,G,A,R007_S,SESN3,Silent,NM_144665,exon1,c.C42T,p.Y14Y,SNP,SNVindel,exonic,SESN3,NA,synonymous SNV,SESN3:NM_144665:exon1:c.C42T:p.Y14Y,NA,NA,NA,NA,NA,NA
chr11,102272360,102272360,C,A,R007_S,TMEM123,Missense_Mutation,NM_052932,exon4,c.G512T,p.G171V,SNP,SNVindel,exonic,TMEM123,NA,nonsynonymous SNV,TMEM123:NM_052932:exon4:c.G512T:p.G171V,D,D,D,T,D,T
chr11,103044828,103044828,C,T,R007_S,DYNC2H1,Missense_Mutation,NM_001080463,exon36,c.C5603T,p.A1868V,SNP,SNVindel,exonic,DYNC2H1,NA,nonsynonymous SNV,"DYNC2H1:NM_001080463:exon36:c.C5603T:p.A1868V,DYNC2H1:NM_001377:exon36:c.C5603T:p.A1868V",D,.,D,T,D,T
chr11,103327011,103327011,G,A,R007_S,DYNC2H1,Missense_Mutation,NM_001377,exon87,c.G12575A,p.G4192D,SNP,SNVindel,exonic,DYNC2H1,NA,nonsynonymous SNV,"DYNC2H1:NM_001377:exon87:c.G12575A:p.G4192D,DYNC2H1:NM_001080463:exon88:c.G12596A:p.G4199D",T,N,N,T,N,T
chr11,104905007,104905007,C,T,R007_S,CASP1,Missense_Mutation,NM_001223,exon2,c.G202A,p.A68T,SNP,SNVindel,exonic,CASP1,NA,nonsynonymous SNV,"CASP1:NM_001223:exon2:c.G202A:p.A68T,CASP1:NM_001257118:exon2:c.G202A:p.A68T,CASP1:NM_001257119:exon2:c.G202A:p.A68T,CASP1:NM_033292:exon2:c.G202A:p.A68T",D,D,N,T,D,T
chr11,107832911,107832911,C,T,R007_S,RAB39A,Missense_Mutation,NM_017516,exon2,c.C467T,p.T156I,SNP,SNVindel,exonic,RAB39A,NA,nonsynonymous SNV,RAB39A:NM_017516:exon2:c.C467T:p.T156I,D,D,D,T,D,D
chr11,108345581,108345581,C,T,R007_S,POGLUT3,Silent,NM_001363502,exon6,c.G1083A,p.R361R,SNP,SNVindel,exonic,POGLUT3,NA,synonymous SNV,"POGLUT3:NM_001363502:exon6:c.G1083A:p.R361R,POGLUT3:NM_001363503:exon7:c.G1392A:p.R464R,POGLUT3:NM_153705:exon8:c.G1497A:p.R499R",NA,NA,NA,NA,NA,NA
chr11,108381619,108381619,C,T,R007_S,EXPH5,Missense_Mutation,NM_001144765,exon3,c.G4051A,p.E1351K,SNP,SNVindel,exonic,EXPH5,NA,nonsynonymous SNV,"EXPH5:NM_001144765:exon3:c.G4051A:p.E1351K,EXPH5:NM_001144764:exon4:c.G4147A:p.E1383K,EXPH5:NM_001144763:exon6:c.G4387A:p.E1463K,EXPH5:NM_015065:exon6:c.G4615A:p.E1539K,EXPH5:NM_001308019:exon7:c.G4594A:p.E1532K",T,N,N,T,N,T
chr11,110007635,110007635,C,T,R007_S,ZC3H12C,Missense_Mutation,NM_033390,exon2,c.C269T,p.S90F,SNP,SNVindel,exonic,ZC3H12C,NA,nonsynonymous SNV,ZC3H12C:NM_033390:exon2:c.C269T:p.S90F,D,.,D,T,N,T
chr11,111582947,111582947,G,A,R007_S,SIK2,Missense_Mutation,NM_015191,exon9,c.G1114A,p.G372R,SNP,SNVindel,exonic,SIK2,NA,nonsynonymous SNV,SIK2:NM_015191:exon9:c.G1114A:p.G372R,D,N,D,T,N,T
chr11,111591265,111591265,G,A,R007_S,SIK2,Missense_Mutation,NM_015191,exon11,c.G1559A,p.G520E,SNP,SNVindel,exonic,SIK2,NA,nonsynonymous SNV,SIK2:NM_015191:exon11:c.G1559A:p.G520E,D,D,D,T,N,T
chr11,111746045,111746045,G,A,R007_S,FDXACB1,Silent,NM_138378,exon5,c.C1476T,p.D492D,SNP,SNVindel,exonic,FDXACB1,NA,synonymous SNV,FDXACB1:NM_138378:exon5:c.C1476T:p.D492D,NA,NA,NA,NA,NA,NA
chr11,111746428,111746428,G,A,R007_S,FDXACB1,Missense_Mutation,NM_138378,exon5,c.C1093T,p.L365F,SNP,SNVindel,exonic,FDXACB1,NA,nonsynonymous SNV,FDXACB1:NM_138378:exon5:c.C1093T:p.L365F,T,N,N,T,N,T
chr11,111859760,111859760,G,A,R007_S,DIXDC1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,DIXDC1,NA,unknown,UNKNOWN,.,D,D,.,.,T
chr11,111909968,111909968,G,A,R007_S,DLAT,Missense_Mutation,NM_001931,exon7,c.G976A,p.V326M,SNP,SNVindel,exonic,DLAT,NA,nonsynonymous SNV,DLAT:NM_001931:exon7:c.G976A:p.V326M,T,N,D,T,N,T
chr11,112104228,112104228,G,A,R007_S,PTS,Missense_Mutation,NM_000317,exon6,c.G388A,p.V130I,SNP,SNVindel,exonic,PTS,NA,nonsynonymous SNV,PTS:NM_000317:exon6:c.G388A:p.V130I,T,D,D,D,N,D
chr11,113103451,113103451,C,T,R007_S,NCAM1,Silent,NM_000615,exon12,c.C1407T,p.D469D,SNP,SNVindel,exonic,NCAM1,NA,synonymous SNV,"NCAM1:NM_000615:exon12:c.C1407T:p.D469D,NCAM1:NM_001076682:exon12:c.C1407T:p.D469D,NCAM1:NM_001242608:exon12:c.C1407T:p.D469D,NCAM1:NM_181351:exon13:c.C1437T:p.D479D,NCAM1:NM_001242607:exon14:c.C1515T:p.D505D",NA,NA,NA,NA,NA,NA
chr11,113270886,113270886,C,T,R007_S,ANKK1,Missense_Mutation,NM_178510,exon8,c.C2195T,p.A732V,SNP,SNVindel,exonic,ANKK1,NA,nonsynonymous SNV,ANKK1:NM_178510:exon8:c.C2195T:p.A732V,D,D,D,T,D,T
chr11,114278403,114278403,C,T,R007_S,RBM7,Silent,NM_001286048,exon3,c.C315T,p.D105D,SNP,SNVindel,exonic,RBM7,NA,synonymous SNV,"RBM7:NM_001286048:exon3:c.C315T:p.D105D,RBM7:NM_001286047:exon4:c.C315T:p.D105D,RBM7:NM_001286045:exon5:c.C678T:p.D226D,RBM7:NM_001286046:exon5:c.C315T:p.D105D,RBM7:NM_016090:exon5:c.C675T:p.D225D",NA,NA,NA,NA,NA,NA
chr11,114315287,114315287,G,A,R007_S,REXO2,Missense_Mutation,NM_015523,exon4,c.G334A,p.E112K,SNP,SNVindel,exonic,REXO2,NA,nonsynonymous SNV,REXO2:NM_015523:exon4:c.G334A:p.E112K,T,D,D,T,N,T
chr11,114569336,114569336,C,T,R007_S,NXPE2,Silent,NM_182495,exon3,c.C702T,p.T234T,SNP,SNVindel,exonic,NXPE2,NA,synonymous SNV,NXPE2:NM_182495:exon3:c.C702T:p.T234T,NA,NA,NA,NA,NA,NA
chr11,116692424,116692424,G,A,R007_S,APOA4,Missense_Mutation,NM_000482,exon3,c.C350T,p.A117V,SNP,SNVindel,exonic,APOA4,NA,nonsynonymous SNV,APOA4:NM_000482:exon3:c.C350T:p.A117V,T,N,D,T,N,T
chr11,116734425,116734425,C,T,R007_S,SIK3,Missense_Mutation,NM_001281749,exon15,c.G1918A,p.E640K,SNP,SNVindel,exonic,SIK3,NA,nonsynonymous SNV,"SIK3:NM_001281749:exon15:c.G1918A:p.E640K,SIK3:NM_025164:exon15:c.G1918A:p.E640K,SIK3:NM_001281748:exon16:c.G1441A:p.E481K,SIK3:NM_001366686:exon16:c.G2062A:p.E688K",D,U,A,D,N,T
chr11,117100441,117100441,C,T,R007_S,PCSK7,Silent,NM_004716,exon3,c.G120A,p.G40G,SNP,SNVindel,exonic,PCSK7,NA,synonymous SNV,PCSK7:NM_004716:exon3:c.G120A:p.G40G,NA,NA,NA,NA,NA,NA
chr11,117115284,117115284,G,A,R007_S,RNF214,Missense_Mutation,NM_001077239,exon5,c.G802A,p.E268K,SNP,SNVindel,exonic,RNF214,NA,nonsynonymous SNV,"RNF214:NM_001077239:exon5:c.G802A:p.E268K,RNF214:NM_001278249:exon5:c.G337A:p.E113K,RNF214:NM_207343:exon5:c.G802A:p.E268K",T,D,D,T,N,T
chr11,117308756,117308756,C,T,R007_S,DSCAML1,Silent,NM_020693,exon25,c.G4287A,p.K1429K,SNP,SNVindel,exonic,DSCAML1,NA,synonymous SNV,DSCAML1:NM_020693:exon25:c.G4287A:p.K1429K,NA,NA,NA,NA,NA,NA
chr11,117310112,117310112,C,T,R007_S,DSCAML1,Silent,NM_020693,exon23,c.G4014A,p.G1338G,SNP,SNVindel,exonic,DSCAML1,NA,synonymous SNV,DSCAML1:NM_020693:exon23:c.G4014A:p.G1338G,NA,NA,NA,NA,NA,NA
chr11,117391882,117391882,G,A,R007_S,DSCAML1,Silent,NM_001367904,exon6,c.C1176T,p.A392A,SNP,SNVindel,exonic,DSCAML1,NA,synonymous SNV,"DSCAML1:NM_001367904:exon6:c.C1176T:p.A392A,DSCAML1:NM_001367905:exon6:c.C768T:p.A256A,DSCAML1:NM_020693:exon6:c.C1176T:p.A392A",NA,NA,NA,NA,NA,NA
chr11,117647519,117647519,G,A,R007_S,DSCAML1,Silent,NM_001367904,exon3,c.C498T,p.V166V,SNP,SNVindel,exonic,DSCAML1,NA,synonymous SNV,"DSCAML1:NM_001367904:exon3:c.C498T:p.V166V,DSCAML1:NM_001367905:exon3:c.C90T:p.V30V,DSCAML1:NM_020693:exon3:c.C498T:p.V166V",NA,NA,NA,NA,NA,NA
chr11,117982570,117982570,G,A,R007_S,TMPRSS4,Missense_Mutation,NM_001173552,exon7,c.G578A,p.S193N,SNP,SNVindel,exonic,TMPRSS4,NA,nonsynonymous SNV,"TMPRSS4:NM_001173552:exon7:c.G578A:p.S193N,TMPRSS4:NM_001083947:exon8:c.G683A:p.S228N,TMPRSS4:NM_001173551:exon8:c.G692A:p.S231N,TMPRSS4:NM_001290094:exon8:c.G623A:p.S208N,TMPRSS4:NM_001290096:exon8:c.G257A:p.S86N,TMPRSS4:NM_019894:exon8:c.G698A:p.S233N",D,N,D,D,N,D
chr11,118067462,118067462,G,A,R007_S,JAML,Silent,NM_001286570,exon8,c.C963T,p.T321T,SNP,SNVindel,exonic,JAML,NA,synonymous SNV,"JAML:NM_001286570:exon8:c.C963T:p.T321T,JAML:NM_001286571:exon8:c.C963T:p.T321T,JAML:NM_153206:exon8:c.C1050T:p.T350T,JAML:NM_001098526:exon9:c.C1080T:p.T360T",NA,NA,NA,NA,NA,NA
chr11,118076629,118076629,C,T,R007_S,JAML,Missense_Mutation,NM_001286570,exon4,c.G385A,p.V129I,SNP,SNVindel,exonic,JAML,NA,nonsynonymous SNV,"JAML:NM_001286570:exon4:c.G385A:p.V129I,JAML:NM_001286571:exon4:c.G385A:p.V129I,JAML:NM_153206:exon4:c.G472A:p.V158I,JAML:NM_001098526:exon5:c.G502A:p.V168I",T,N,N,T,N,T
chr11,118085554,118085554,G,A,R007_S,JAML,Silent,NM_001098526,exon2,c.C28T,p.L10L,SNP,SNVindel,exonic,JAML,NA,synonymous SNV,JAML:NM_001098526:exon2:c.C28T:p.L10L,NA,NA,NA,NA,NA,NA
chr11,118239494,118239494,G,A,R007_S,UBE4A,Silent,NM_001204077,exon3,c.G270A,p.R90R,SNP,SNVindel,exonic,UBE4A,NA,synonymous SNV,"UBE4A:NM_001204077:exon3:c.G270A:p.R90R,UBE4A:NM_004788:exon3:c.G270A:p.R90R",NA,NA,NA,NA,NA,NA
chr11,118376688,118376688,G,A,R007_S,KMT2A,Missense_Mutation,NM_001197104,exon27,c.G10081A,p.V3361I,SNP,SNVindel,exonic,KMT2A,NA,nonsynonymous SNV,"KMT2A:NM_001197104:exon27:c.G10081A:p.V3361I,KMT2A:NM_005933:exon27:c.G10072A:p.V3358I",D,N,D,D,N,T
chr11,118377139,118377139,G,A,R007_S,KMT2A,Missense_Mutation,NM_001197104,exon27,c.G10532A,p.S3511N,SNP,SNVindel,exonic,KMT2A,NA,nonsynonymous SNV,"KMT2A:NM_001197104:exon27:c.G10532A:p.S3511N,KMT2A:NM_005933:exon27:c.G10523A:p.S3508N",T,D,D,D,N,T
chr11,118530111,118530111,G,A,R007_S,TREH,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TREH,NA,unknown,UNKNOWN,T,D,D,T,D,T
chr11,118532408,118532408,G,A,R007_S,TREH,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TREH,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,118534091,118534091,C,T,R007_S,TREH,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TREH,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,118534124,118534124,G,A,R007_S,TREH,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TREH,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,118940269,118940269,C,T,R007_S,VPS11,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,VPS11,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr11,118968677,118968677,C,T,R007_S,DPAGT1,Missense_Mutation,NM_001382,exon6,c.G805A,p.G269R,SNP,SNVindel,exonic,DPAGT1,NA,nonsynonymous SNV,DPAGT1:NM_001382:exon6:c.G805A:p.G269R,D,D,D,D,D,D
chr11,118971393,118971393,G,A,R007_S,DPAGT1,Missense_Mutation,NM_001382,exon3,c.C443T,p.T148I,SNP,SNVindel,exonic,DPAGT1,NA,nonsynonymous SNV,DPAGT1:NM_001382:exon3:c.C443T:p.T148I,T,D,D,D,D,D
chr11,119061487,119061487,C,T,R007_S,CCDC153,Missense_Mutation,NM_001145018,exon6,c.G412A,p.D138N,SNP,SNVindel,exonic,CCDC153,NA,nonsynonymous SNV,CCDC153:NM_001145018:exon6:c.G412A:p.D138N,T,D,N,T,D,T
chr11,119213428,119213428,C,T,R007_S,MFRP,Missense_Mutation,NM_031433,exon11,c.G1265A,p.G422E,SNP,SNVindel,exonic,MFRP,NA,nonsynonymous SNV,MFRP:NM_031433:exon11:c.G1265A:p.G422E,T,N,D,D,N,T
chr11,119998166,119998166,C,T,R007_S,TRIM29,Missense_Mutation,NM_001330382,exon3,c.G229A,p.D77N,SNP,SNVindel,exonic,TRIM29,NA,nonsynonymous SNV,"TRIM29:NM_001330382:exon3:c.G229A:p.D77N,TRIM29:NM_012101:exon3:c.G1012A:p.D338N",T,N,D,T,N,T
chr11,120097612,120097612,G,A,R007_S,OAF,Missense_Mutation,NM_178507,exon3,c.G454A,p.A152T,SNP,SNVindel,exonic,OAF,NA,nonsynonymous SNV,OAF:NM_178507:exon3:c.G454A:p.A152T,T,N,N,T,N,T
chr11,120310914,120310914,G,A,R007_S,ARHGEF12,Missense_Mutation,NM_001198665,exon12,c.G1019A,p.G340D,SNP,SNVindel,exonic,ARHGEF12,NA,nonsynonymous SNV,"ARHGEF12:NM_001198665:exon12:c.G1019A:p.G340D,ARHGEF12:NM_001301084:exon13:c.G767A:p.G256D,ARHGEF12:NM_015313:exon13:c.G1076A:p.G359D",T,D,D,T,N,T
chr11,120352052,120352052,C,T,R007_S,ARHGEF12,Missense_Mutation,NM_001198665,exon38,c.C4264T,p.P1422S,SNP,SNVindel,exonic,ARHGEF12,NA,nonsynonymous SNV,"ARHGEF12:NM_001198665:exon38:c.C4264T:p.P1422S,ARHGEF12:NM_001301084:exon39:c.C4012T:p.P1338S,ARHGEF12:NM_015313:exon39:c.C4321T:p.P1441S",T,N,N,T,N,T
chr11,120673413,120673413,G,A,R007_S,GRIK4,Missense_Mutation,NM_001282470,exon3,c.G94A,p.D32N,SNP,SNVindel,exonic,GRIK4,NA,nonsynonymous SNV,"GRIK4:NM_001282470:exon3:c.G94A:p.D32N,GRIK4:NM_001282473:exon4:c.G94A:p.D32N,GRIK4:NM_014619:exon4:c.G94A:p.D32N",D,D,D,T,N,T
chr11,120983885,120983885,C,T,R007_S,TECTA,Silent,NM_005422,exon4,c.C591T,p.D197D,SNP,SNVindel,exonic,TECTA,NA,synonymous SNV,TECTA:NM_005422:exon4:c.C591T:p.D197D,NA,NA,NA,NA,NA,NA
chr11,121008164,121008164,G,A,R007_S,TECTA,Silent,NM_005422,exon10,c.G2976A,p.E992E,SNP,SNVindel,exonic,TECTA,NA,synonymous SNV,TECTA:NM_005422:exon10:c.G2976A:p.E992E,NA,NA,NA,NA,NA,NA
chr11,121481796,121481796,C,T,R007_S,SORL1,Missense_Mutation,NM_003105,exon39,c.C5251T,p.P1751S,SNP,SNVindel,exonic,SORL1,NA,nonsynonymous SNV,SORL1:NM_003105:exon39:c.C5251T:p.P1751S,T,D,D,T,N,T
chr11,123755336,123755336,C,T,R007_S,TMEM225,Silent,NM_001013743,exon2,c.G189A,p.L63L,SNP,SNVindel,exonic,TMEM225,NA,synonymous SNV,"TMEM225:NM_001013743:exon2:c.G189A:p.L63L,TMEM225:NM_001363605:exon2:c.G39A:p.L13L",NA,NA,NA,NA,NA,NA
chr11,123811213,123811213,C,T,R007_S,OR4D5,Missense_Mutation,NM_001001965,exon1,c.C890T,p.A297V,SNP,SNVindel,exonic,OR4D5,NA,nonsynonymous SNV,OR4D5:NM_001001965:exon1:c.C890T:p.A297V,D,D,N,T,D,T
chr11,123847469,123847469,C,T,R007_S,OR10S1,Silent,NM_001004474,exon1,c.G930A,p.K310K,SNP,SNVindel,exonic,OR10S1,NA,synonymous SNV,OR10S1:NM_001004474:exon1:c.G930A:p.K310K,NA,NA,NA,NA,NA,NA
chr11,123909001,123909001,G,A,R007_S,OR10G7,Silent,NM_001004463,exon1,c.C708T,p.A236A,SNP,SNVindel,exonic,OR10G7,NA,synonymous SNV,OR10G7:NM_001004463:exon1:c.C708T:p.A236A,NA,NA,NA,NA,NA,NA
chr11,123994965,123994965,G,A,R007_S,VWA5A,Missense_Mutation,NM_014622,exon10,c.G1186A,p.E396K,SNP,SNVindel,exonic,VWA5A,NA,nonsynonymous SNV,"VWA5A:NM_014622:exon10:c.G1186A:p.E396K,VWA5A:NM_198315:exon10:c.G1186A:p.E396K,VWA5A:NM_001130142:exon11:c.G1186A:p.E396K",D,D,D,T,D,T
chr11,124489651,124489651,C,T,R007_S,PANX3,Silent,NM_052959,exon4,c.C999T,p.L333L,SNP,SNVindel,exonic,PANX3,NA,synonymous SNV,PANX3:NM_052959:exon4:c.C999T:p.L333L,NA,NA,NA,NA,NA,NA
chr11,124739926,124739926,G,A,R007_S,ROBO3,Missense_Mutation,NM_022370,exon4,c.G728A,p.G243E,SNP,SNVindel,exonic,ROBO3,NA,nonsynonymous SNV,ROBO3:NM_022370:exon4:c.G728A:p.G243E,D,U,D,T,D,D
chr11,124789829,124789829,C,T,R007_S,HEPN1,Silent,NM_001037558,exon1,c.C183T,p.H61H,SNP,SNVindel,exonic,HEPN1,NA,synonymous SNV,HEPN1:NM_001037558:exon1:c.C183T:p.H61H,NA,NA,NA,NA,NA,NA
chr11,124792647,124792647,G,A,R007_S,HEPACAM,Missense_Mutation,NM_152722,exon5,c.C871T,p.P291S,SNP,SNVindel,exonic,HEPACAM,NA,nonsynonymous SNV,HEPACAM:NM_152722:exon5:c.C871T:p.P291S,T,N,N,T,N,T
chr11,125775971,125775971,G,A,R007_S,DDX25,Missense_Mutation,NM_013264,exon4,c.G178A,p.D60N,SNP,SNVindel,exonic,DDX25,NA,nonsynonymous SNV,DDX25:NM_013264:exon4:c.G178A:p.D60N,T,N,D,T,N,T
chr11,125851169,125851169,C,T,R007_S,CDON,Silent,NM_001243597,exon17,c.G3051A,p.V1017V,SNP,SNVindel,exonic,CDON,NA,synonymous SNV,"CDON:NM_001243597:exon17:c.G3051A:p.V1017V,CDON:NM_016952:exon17:c.G3051A:p.V1017V",NA,NA,NA,NA,NA,NA
chr11,125880505,125880505,G,A,R007_S,CDON,Missense_Mutation,NM_001243597,exon8,c.C1283T,p.A428V,SNP,SNVindel,exonic,CDON,NA,nonsynonymous SNV,"CDON:NM_001243597:exon8:c.C1283T:p.A428V,CDON:NM_016952:exon8:c.C1283T:p.A428V",T,D,D,T,N,T
chr11,125887063,125887063,G,A,R007_S,CDON,Missense_Mutation,NM_001243597,exon6,c.C848T,p.A283V,SNP,SNVindel,exonic,CDON,NA,nonsynonymous SNV,"CDON:NM_001243597:exon6:c.C848T:p.A283V,CDON:NM_016952:exon6:c.C848T:p.A283V",T,N,N,T,N,T
chr11,126306738,126306738,G,A,R007_S,KIRREL3,Missense_Mutation,NM_001161707,exon12,c.C1520T,p.S507F,SNP,SNVindel,exonic,KIRREL3,NA,nonsynonymous SNV,"KIRREL3:NM_001161707:exon12:c.C1520T:p.S507F,KIRREL3:NM_001301097:exon12:c.C1520T:p.S507F,KIRREL3:NM_032531:exon12:c.C1520T:p.S507F",D,D,D,T,N,T
chr11,128781621,128781621,G,A,R007_S,KCNJ5,Silent,NM_000890,exon2,c.G453A,p.G151G,SNP,SNVindel,exonic,KCNJ5,NA,synonymous SNV,"KCNJ5:NM_000890:exon2:c.G453A:p.G151G,KCNJ5:NM_001354169:exon3:c.G453A:p.G151G",NA,NA,NA,NA,NA,NA
chr11,128838904,128838904,G,A,R007_S,ARHGAP32,Silent,NM_014715,exon13,c.C5115T,p.P1705P,SNP,SNVindel,exonic,ARHGAP32,NA,synonymous SNV,"ARHGAP32:NM_014715:exon13:c.C5115T:p.P1705P,ARHGAP32:NM_001142685:exon22:c.C6162T:p.P2054P",NA,NA,NA,NA,NA,NA
chr11,129780543,129780543,C,T,R007_S,PRDM10,Silent,NM_199439,exon14,c.G2592A,p.G864G,SNP,SNVindel,exonic,PRDM10,NA,synonymous SNV,"PRDM10:NM_199439:exon14:c.G2592A:p.G864G,PRDM10:NM_001367898:exon15:c.G2733A:p.G911G,PRDM10:NM_001367896:exon16:c.G2142A:p.G714G,PRDM10:NM_001367899:exon16:c.G2745A:p.G915G,PRDM10:NM_199438:exon16:c.G2706A:p.G902G,PRDM10:NM_001367895:exon17:c.G2103A:p.G701G,PRDM10:NM_001367897:exon17:c.G2154A:p.G718G,PRDM10:NM_001367890:exon18:c.G2643A:p.G881G,PRDM10:NM_001367891:exon18:c.G2931A:p.G977G,PRDM10:NM_001367894:exon18:c.G2604A:p.G868G,PRDM10:NM_199437:exon19:c.G2991A:p.G997G,PRDM10:NM_001367892:exon20:c.G2937A:p.G979G,PRDM10:NM_001367893:exon20:c.G2964A:p.G988G,PRDM10:NM_020228:exon20:c.G3003A:p.G1001G",NA,NA,NA,NA,NA,NA
chr11,130060008,130060008,C,T,R007_S,ST14,Missense_Mutation,NM_021978,exon6,c.C599T,p.P200L,SNP,SNVindel,exonic,ST14,NA,nonsynonymous SNV,ST14:NM_021978:exon6:c.C599T:p.P200L,T,N,D,D,N,D
chr11,133790696,133790696,G,A,R007_S,IGSF9B,Missense_Mutation,NM_001277285,exon18,c.C2924T,p.P975L,SNP,SNVindel,exonic,IGSF9B,NA,nonsynonymous SNV,IGSF9B:NM_001277285:exon18:c.C2924T:p.P975L,T,D,D,T,N,T
chr11,133805970,133805970,C,T,R007_S,IGSF9B,Missense_Mutation,NM_001277285,exon6,c.G799A,p.D267N,SNP,SNVindel,exonic,IGSF9B,NA,nonsynonymous SNV,IGSF9B:NM_001277285:exon6:c.G799A:p.D267N,T,.,D,T,N,T
chr11,134095111,134095111,G,A,R007_S,VPS26B,Missense_Mutation,NM_052875,exon1,c.G95A,p.G32E,SNP,SNVindel,exonic,VPS26B,NA,nonsynonymous SNV,VPS26B:NM_052875:exon1:c.G95A:p.G32E,D,D,D,.,D,D
chr11,134121182,134121182,G,A,R007_S,THYN1,Missense_Mutation,NM_014174,exon2,c.C64T,p.R22C,SNP,SNVindel,exonic,THYN1,NA,nonsynonymous SNV,"THYN1:NM_014174:exon2:c.C64T:p.R22C,THYN1:NM_001037304:exon3:c.C64T:p.R22C,THYN1:NM_001037305:exon3:c.C64T:p.R22C,THYN1:NM_199297:exon3:c.C64T:p.R22C,THYN1:NM_199298:exon3:c.C64T:p.R22C",D,N,N,.,D,T
chr11,134182283,134182283,C,T,R007_S,GLB1L3,Missense_Mutation,NM_001080407,exon14,c.C1328T,p.P443L,SNP,SNVindel,exonic,GLB1L3,NA,nonsynonymous SNV,GLB1L3:NM_001080407:exon14:c.C1328T:p.P443L,D,D,N,D,D,D
chr11,134241376,134241376,C,T,R007_S,GLB1L2,Missense_Mutation,NM_001370461,exon14,c.C1418T,p.P473L,SNP,SNVindel,exonic,GLB1L2,NA,nonsynonymous SNV,"GLB1L2:NM_001370461:exon14:c.C1418T:p.P473L,GLB1L2:NM_138342:exon14:c.C1418T:p.P473L,GLB1L2:NM_001370460:exon15:c.C1580T:p.P527L",D,D,D,D,D,D
chr11,134254038,134254038,G,A,R007_S,B3GAT1,Missense_Mutation,NM_054025,exon3,c.C157T,p.P53S,SNP,SNVindel,exonic,B3GAT1,NA,nonsynonymous SNV,"B3GAT1:NM_054025:exon3:c.C157T:p.P53S,B3GAT1:NM_001367973:exon4:c.C196T:p.P66S,B3GAT1:NM_018644:exon4:c.C157T:p.P53S",T,D,N,T,N,T
chr12,401993,401993,C,T,R007_S,KDM5A,Missense_Mutation,NM_001042603,exon27,c.G4798A,p.A1600T,SNP,SNVindel,exonic,KDM5A,NA,nonsynonymous SNV,KDM5A:NM_001042603:exon27:c.G4798A:p.A1600T,T,D,D,D,N,D
chr12,977095,977095,C,T,R007_S,WNK1,Missense_Mutation,NM_001184985,exon9,c.C2203T,p.P735S,SNP,SNVindel,exonic,WNK1,NA,nonsynonymous SNV,"WNK1:NM_001184985:exon9:c.C2203T:p.P735S,WNK1:NM_213655:exon10:c.C2458T:p.P820S",D,.,D,T,D,T
chr12,1034620,1034620,C,T,R007_S,RAD52,Missense_Mutation,NM_001297421,exon5,c.G308A,p.R103H,SNP,SNVindel,exonic,RAD52,NA,nonsynonymous SNV,"RAD52:NM_001297421:exon5:c.G308A:p.R103H,RAD52:NM_001297419:exon7:c.G539A:p.R180H,RAD52:NM_001297422:exon7:c.G539A:p.R180H,RAD52:NM_134424:exon7:c.G539A:p.R180H",D,N,N,T,D,T
chr12,1702775,1702775,C,T,R007_S,FBXL14,Missense_Mutation,NM_152441,exon1,c.G458A,p.C153Y,SNP,SNVindel,exonic,FBXL14,NA,nonsynonymous SNV,FBXL14:NM_152441:exon1:c.G458A:p.C153Y,D,D,D,T,D,T
chr12,1943674,1943674,G,A,R007_S,LRTM2,Silent,NM_001039029,exon5,c.G900A,p.R300R,SNP,SNVindel,exonic,LRTM2,NA,synonymous SNV,"LRTM2:NM_001039029:exon5:c.G900A:p.R300R,LRTM2:NM_001163925:exon5:c.G900A:p.R300R,LRTM2:NM_001163926:exon5:c.G900A:p.R300R",NA,NA,NA,NA,NA,NA
chr12,2113582,2113582,C,T,R007_S,DCP1B,Missense_Mutation,NM_001319292,exon1,c.G16A,p.A6T,SNP,SNVindel,exonic,DCP1B,NA,nonsynonymous SNV,"DCP1B:NM_001319292:exon1:c.G16A:p.A6T,DCP1B:NM_152640:exon1:c.G16A:p.A6T",D,D,D,T,N,T
chr12,2714879,2714879,C,T,R007_S,CACNA1C,Missense_Mutation,NM_000719,exon24,c.C3083T,p.T1028I,SNP,SNVindel,exonic,CACNA1C,NA,nonsynonymous SNV,"CACNA1C:NM_000719:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129829:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129830:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129831:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129833:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129834:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129835:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129836:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129837:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129838:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129839:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129840:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129841:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129842:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129843:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129844:exon24:c.C3074T:p.T1025I,CACNA1C:NM_001129846:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001167623:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001167624:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001167625:exon24:c.C3083T:p.T1028I,CACNA1C:NM_001129827:exon25:c.C3143T:p.T1048I,CACNA1C:NM_001129832:exon25:c.C3143T:p.T1048I,CACNA1C:NM_199460:exon25:c.C3143T:p.T1048I",D,D,D,D,D,D
chr12,3043683,3043683,G,A,R007_S,TULP3,Missense_Mutation,NM_001160408,exon8,c.G880A,p.V294I,SNP,SNVindel,exonic,TULP3,NA,nonsynonymous SNV,"TULP3:NM_001160408:exon8:c.G880A:p.V294I,TULP3:NM_003324:exon8:c.G880A:p.V294I",T,N,D,D,N,T
chr12,3131022,3131022,C,T,R007_S,TEAD4,Silent,NM_201443,exon8,c.C349T,p.L117L,SNP,SNVindel,exonic,TEAD4,NA,synonymous SNV,"TEAD4:NM_201443:exon8:c.C349T:p.L117L,TEAD4:NM_201441:exon9:c.C607T:p.L203L,TEAD4:NM_003213:exon10:c.C736T:p.L246L",NA,NA,NA,NA,NA,NA
chr12,3763472,3763472,C,T,R007_S,CRACR2A,Missense_Mutation,NM_001144958,exon10,c.G952A,p.E318K,SNP,SNVindel,exonic,CRACR2A,NA,nonsynonymous SNV,"CRACR2A:NM_001144958:exon10:c.G952A:p.E318K,CRACR2A:NM_032680:exon10:c.G952A:p.E318K",T,N,D,T,N,T
chr12,4639189,4639189,C,T,R007_S,C12orf4,Missense_Mutation,NM_001304811,exon4,c.G352A,p.E118K,SNP,SNVindel,exonic,C12orf4,NA,nonsynonymous SNV,"C12orf4:NM_001304811:exon4:c.G352A:p.E118K,C12orf4:NM_001346153:exon4:c.G352A:p.E118K,C12orf4:NM_001346155:exon4:c.G352A:p.E118K,C12orf4:NM_020374:exon4:c.G352A:p.E118K",T,D,D,.,N,T
chr12,5155040,5155040,C,T,R007_S,KCNA5,Missense_Mutation,NM_002234,exon1,c.C1727T,p.A576V,SNP,SNVindel,exonic,KCNA5,NA,nonsynonymous SNV,KCNA5:NM_002234:exon1:c.C1727T:p.A576V,T,U,A,D,N,D
chr12,6030353,6030353,C,T,R007_S,ANO2,Silent,NM_001278596,exon3,c.G387A,p.G129G,SNP,SNVindel,exonic,ANO2,NA,synonymous SNV,"ANO2:NM_001278596:exon3:c.G387A:p.G129G,ANO2:NM_001278597:exon3:c.G375A:p.G125G,ANO2:NM_001364791:exon3:c.G387A:p.G129G",NA,NA,NA,NA,NA,NA
chr12,6483915,6483915,C,T,R007_S,SCNN1A,Missense_Mutation,NM_001159576,exon1,c.G212A,p.S71N,SNP,SNVindel,exonic,SCNN1A,NA,nonsynonymous SNV,"SCNN1A:NM_001159576:exon1:c.G212A:p.S71N,SCNN1A:NM_001038:exon2:c.G35A:p.S12N,SCNN1A:NM_001159575:exon2:c.G104A:p.S35N",T,N,N,T,N,T
chr12,6559435,6559435,C,T,R007_S,CD27,Missense_Mutation,NM_001242,exon3,c.C365T,p.P122L,SNP,SNVindel,exonic,CD27,NA,nonsynonymous SNV,CD27:NM_001242:exon3:c.C365T:p.P122L,T,N,D,T,D,T
chr12,6640104,6640104,C,T,R007_S,NCAPD2,Silent,NM_014865,exon31,c.C3982T,p.L1328L,SNP,SNVindel,exonic,NCAPD2,NA,synonymous SNV,NCAPD2:NM_014865:exon31:c.C3982T:p.L1328L,NA,NA,NA,NA,NA,NA
chr12,6859344,6859344,C,T,R007_S,MLF2,Missense_Mutation,NM_005439,exon6,c.G398A,p.G133E,SNP,SNVindel,exonic,MLF2,NA,nonsynonymous SNV,MLF2:NM_005439:exon6:c.G398A:p.G133E,D,D,D,.,D,D
chr12,6909344,6909344,C,T,R007_S,CD4,Silent,NM_000616,exon2,c.C40T,p.L14L,SNP,SNVindel,exonic,CD4,NA,synonymous SNV,CD4:NM_000616:exon2:c.C40T:p.L14L,NA,NA,NA,NA,NA,NA
chr12,6933862,6933862,C,T,R007_S,GPR162,Silent,NM_019858,exon2,c.C798T,p.S266S,SNP,SNVindel,exonic,GPR162,NA,synonymous SNV,GPR162:NM_019858:exon2:c.C798T:p.S266S,NA,NA,NA,NA,NA,NA
chr12,7069918,7069918,C,T,R007_S,PTPN6,Missense_Mutation,NM_080549,exon15,c.C1766T,p.S589F,SNP,SNVindel,exonic,PTPN6,NA,nonsynonymous SNV,PTPN6:NM_080549:exon15:c.C1766T:p.S589F,D,.,N,T,N,T
chr12,7174374,7174374,C,T,R007_S,C1S,Missense_Mutation,NM_001346850,exon8,c.C518T,p.T173I,SNP,SNVindel,exonic,C1S,NA,nonsynonymous SNV,"C1S:NM_001346850:exon8:c.C518T:p.T173I,C1S:NM_001734:exon9:c.C1019T:p.T340I,C1S:NM_201442:exon9:c.C1019T:p.T340I",T,N,D,T,N,T
chr12,7177942,7177942,C,T,R007_S,C1S,Missense_Mutation,NM_001346850,exon11,c.C1553T,p.P518L,SNP,SNVindel,exonic,C1S,NA,nonsynonymous SNV,"C1S:NM_001346850:exon11:c.C1553T:p.P518L,C1S:NM_001734:exon12:c.C2054T:p.P685L,C1S:NM_201442:exon12:c.C2054T:p.P685L",D,N,N,D,N,T
chr12,7188086,7188086,C,T,R007_S,C1R,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,C1R,NA,unknown,UNKNOWN,.,D,D,.,.,.
chr12,7254464,7254464,C,T,R007_S,C1RL,Missense_Mutation,NM_001297643,exon3,c.G520A,p.G174R,SNP,SNVindel,exonic,C1RL,NA,nonsynonymous SNV,C1RL:NM_001297643:exon3:c.G520A:p.G174R,D,.,N,T,N,T
chr12,7848139,7848139,C,T,R007_S,GDF3,Silent,NM_020634,exon1,c.G186A,p.A62A,SNP,SNVindel,exonic,GDF3,NA,synonymous SNV,GDF3:NM_020634:exon1:c.G186A:p.A62A,NA,NA,NA,NA,NA,NA
chr12,8085632,8085632,C,T,R007_S,SLC2A3,Missense_Mutation,NM_006931,exon3,c.G220A,p.G74S,SNP,SNVindel,exonic,SLC2A3,NA,nonsynonymous SNV,SLC2A3:NM_006931:exon3:c.G220A:p.G74S,D,D,D,T,D,D
chr12,8195292,8195292,C,T,R007_S,FOXJ2,Silent,NM_018416,exon3,c.C372T,p.F124F,SNP,SNVindel,exonic,FOXJ2,NA,synonymous SNV,FOXJ2:NM_018416:exon3:c.C372T:p.F124F,NA,NA,NA,NA,NA,NA
chr12,8757460,8757460,C,T,R007_S,AICDA,Nonsense_Mutation,NM_001330343,exon4,c.G456A,p.W152X,SNP,SNVindel,exonic,AICDA,NA,stopgain,"AICDA:NM_001330343:exon4:c.G456A:p.W152X,AICDA:NM_020661:exon4:c.G486A:p.W162X",.,D,A,.,.,.
chr12,8757986,8757986,C,T,R007_S,AICDA,Nonsense_Mutation,NM_001330343,exon3,c.G252A,p.W84X,SNP,SNVindel,exonic,AICDA,NA,stopgain,"AICDA:NM_001330343:exon3:c.G252A:p.W84X,AICDA:NM_020661:exon3:c.G252A:p.W84X",.,D,A,.,.,.
chr12,9098060,9098060,C,T,R007_S,M6PR,Silent,NM_001207024,exon3,c.G297A,p.K99K,SNP,SNVindel,exonic,M6PR,NA,synonymous SNV,"M6PR:NM_001207024:exon3:c.G297A:p.K99K,M6PR:NM_002355:exon3:c.G297A:p.K99K",NA,NA,NA,NA,NA,NA
chr12,9246066,9246066,C,T,R007_S,A2M,Silent,NM_001347425,exon17,c.G1785A,p.V595V,SNP,SNVindel,exonic,A2M,NA,synonymous SNV,"A2M:NM_001347425:exon17:c.G1785A:p.V595V,A2M:NM_000014:exon18:c.G2235A:p.V745V,A2M:NM_001347424:exon18:c.G1935A:p.V645V,A2M:NM_001347423:exon19:c.G2235A:p.V745V",NA,NA,NA,NA,NA,NA
chr12,9248227,9248227,C,T,R007_S,A2M,Missense_Mutation,NM_001347425,exon15,c.G1471A,p.D491N,SNP,SNVindel,exonic,A2M,NA,nonsynonymous SNV,"A2M:NM_001347425:exon15:c.G1471A:p.D491N,A2M:NM_000014:exon16:c.G1921A:p.D641N,A2M:NM_001347424:exon16:c.G1621A:p.D541N,A2M:NM_001347423:exon17:c.G1921A:p.D641N",T,N,N,T,N,T
chr12,9307325,9307325,C,T,R007_S,PZP,Missense_Mutation,NM_002864,exon29,c.G3661A,p.A1221T,SNP,SNVindel,exonic,PZP,NA,nonsynonymous SNV,PZP:NM_002864:exon29:c.G3661A:p.A1221T,T,N,N,T,D,T
chr12,10772823,10772823,C,T,R007_S,STYK1,Missense_Mutation,NM_018423,exon11,c.G1189A,p.E397K,SNP,SNVindel,exonic,STYK1,NA,nonsynonymous SNV,STYK1:NM_018423:exon11:c.G1189A:p.E397K,D,D,D,T,N,D
chr12,10954655,10954655,C,T,R007_S,TAS2R7,Missense_Mutation,NM_023919,exon1,c.G515A,p.C172Y,SNP,SNVindel,exonic,TAS2R7,NA,nonsynonymous SNV,TAS2R7:NM_023919:exon1:c.G515A:p.C172Y,T,N,N,T,N,T
chr12,11061174,11061174,C,T,R007_S,TAS2R13,Missense_Mutation,NM_023920,exon1,c.G724A,p.A242T,SNP,SNVindel,exonic,TAS2R13,NA,nonsynonymous SNV,TAS2R13:NM_023920:exon1:c.G724A:p.A242T,T,U,N,T,N,T
chr12,13061888,13061888,C,T,R007_S,GPRC5A,Silent,NM_003979,exon2,c.C705T,p.D235D,SNP,SNVindel,exonic,GPRC5A,NA,synonymous SNV,GPRC5A:NM_003979:exon2:c.C705T:p.D235D,NA,NA,NA,NA,NA,NA
chr12,13140104,13140104,C,T,R007_S,HEBP1,Missense_Mutation,NM_015987,exon3,c.G380A,p.G127D,SNP,SNVindel,exonic,HEBP1,NA,nonsynonymous SNV,HEBP1:NM_015987:exon3:c.G380A:p.G127D,T,N,D,T,N,T
chr12,13221272,13221272,C,T,R007_S,FAM234B,Missense_Mutation,NM_020853,exon8,c.C1177T,p.P393S,SNP,SNVindel,exonic,FAM234B,NA,nonsynonymous SNV,FAM234B:NM_020853:exon8:c.C1177T:p.P393S,T,N,N,T,D,T
chr12,13241719,13241719,C,T,R007_S,GSG1,Silent,NM_001367364,exon3,c.G489A,p.L163L,SNP,SNVindel,exonic,GSG1,NA,synonymous SNV,"GSG1:NM_001367364:exon3:c.G489A:p.L163L,GSG1:NM_031289:exon3:c.G450A:p.L150L,GSG1:NM_001080554:exon4:c.G558A:p.L186L,GSG1:NM_001367358:exon4:c.G558A:p.L186L,GSG1:NM_001367360:exon4:c.G558A:p.L186L,GSG1:NM_001367361:exon4:c.G630A:p.L210L,GSG1:NM_001367363:exon4:c.G558A:p.L186L",NA,NA,NA,NA,NA,NA
chr12,13715930,13715930,C,T,R007_S,GRIN2B,Silent,NM_000834,exon13,c.G4242A,p.A1414A,SNP,SNVindel,exonic,GRIN2B,NA,synonymous SNV,GRIN2B:NM_000834:exon13:c.G4242A:p.A1414A,NA,NA,NA,NA,NA,NA
chr12,13715981,13715981,C,T,R007_S,GRIN2B,Silent,NM_000834,exon13,c.G4191A,p.L1397L,SNP,SNVindel,exonic,GRIN2B,NA,synonymous SNV,GRIN2B:NM_000834:exon13:c.G4191A:p.L1397L,NA,NA,NA,NA,NA,NA
chr12,13717520,13717520,C,T,R007_S,GRIN2B,Missense_Mutation,NM_000834,exon13,c.G2652A,p.M884I,SNP,SNVindel,exonic,GRIN2B,NA,nonsynonymous SNV,GRIN2B:NM_000834:exon13:c.G2652A:p.M884I,.,D,D,.,.,T
chr12,15654695,15654695,C,T,R007_S,PTPRO,Missense_Mutation,NM_002848,exon5,c.C803T,p.T268I,SNP,SNVindel,exonic,PTPRO,NA,nonsynonymous SNV,"PTPRO:NM_002848:exon5:c.C803T:p.T268I,PTPRO:NM_030667:exon5:c.C803T:p.T268I",D,N,N,T,N,T
chr12,19427699,19427699,C,T,R007_S,PLEKHA5,Silent,NM_001256787,exon8,c.C753T,p.C251C,SNP,SNVindel,exonic,PLEKHA5,NA,synonymous SNV,"PLEKHA5:NM_001256787:exon8:c.C753T:p.C251C,PLEKHA5:NM_001143821:exon10:c.C1077T:p.C359C,PLEKHA5:NM_019012:exon10:c.C1077T:p.C359C,PLEKHA5:NM_001256470:exon11:c.C1095T:p.C365C",NA,NA,NA,NA,NA,NA
chr12,20801720,20801720,C,T,R007_S,PDE3A,Silent,NM_001244683,exon12,c.C1698T,p.N566N,SNP,SNVindel,exonic,PDE3A,NA,synonymous SNV,"PDE3A:NM_001244683:exon12:c.C1698T:p.N566N,PDE3A:NM_000921:exon13:c.C2664T:p.N888N",NA,NA,NA,NA,NA,NA
chr12,21358921,21358921,C,T,R007_S,SLCO1B1,Missense_Mutation,NM_006446,exon11,c.C1451T,p.P484L,SNP,SNVindel,exonic,SLCO1B1,NA,nonsynonymous SNV,SLCO1B1:NM_006446:exon11:c.C1451T:p.P484L,D,D,D,T,D,T
chr12,21679885,21679885,C,T,R007_S,SPX,Silent,NM_030572,exon2,c.C72T,p.S24S,SNP,SNVindel,exonic,SPX,NA,synonymous SNV,SPX:NM_030572:exon2:c.C72T:p.S24S,NA,NA,NA,NA,NA,NA
chr12,21788550,21788550,C,T,R007_S,LDHB,Missense_Mutation,NM_001174097,exon8,c.G931A,p.D311N,SNP,SNVindel,exonic,LDHB,NA,nonsynonymous SNV,"LDHB:NM_001174097:exon8:c.G931A:p.D311N,LDHB:NM_002300:exon8:c.G931A:p.D311N",T,D,D,T,N,T
chr12,21971126,21971126,C,T,R007_S,ABCC9,Silent,NM_005691,exon30,c.G3729A,p.S1243S,SNP,SNVindel,exonic,ABCC9,NA,synonymous SNV,"ABCC9:NM_005691:exon30:c.G3729A:p.S1243S,ABCC9:NM_020297:exon30:c.G3729A:p.S1243S",NA,NA,NA,NA,NA,NA
chr12,26592146,26592146,C,T,R007_S,ITPR2,Missense_Mutation,NM_002223,exon47,c.G6557A,p.R2186K,SNP,SNVindel,exonic,ITPR2,NA,nonsynonymous SNV,ITPR2:NM_002223:exon47:c.G6557A:p.R2186K,D,D,D,D,D,D
chr12,26636820,26636820,C,T,R007_S,ITPR2,Silent,NM_002223,exon42,c.G5823A,p.R1941R,SNP,SNVindel,exonic,ITPR2,NA,synonymous SNV,ITPR2:NM_002223:exon42:c.G5823A:p.R1941R,NA,NA,NA,NA,NA,NA
chr12,26868375,26868375,C,T,R007_S,ITPR2,Missense_Mutation,NM_002223,exon8,c.G712A,p.D238N,SNP,SNVindel,exonic,ITPR2,NA,nonsynonymous SNV,ITPR2:NM_002223:exon8:c.G712A:p.D238N,D,D,D,D,D,D
chr12,27179401,27179401,C,T,R007_S,MED21,Missense_Mutation,NM_001271811,exon2,c.C91T,p.P31S,SNP,SNVindel,exonic,MED21,NA,nonsynonymous SNV,"MED21:NM_001271811:exon2:c.C91T:p.P31S,MED21:NM_004264:exon2:c.C91T:p.P31S",T,D,D,.,D,T
chr12,27553480,27553480,C,T,R007_S,ARNTL2,Silent,NM_001248003,exon8,c.C822T,p.F274F,SNP,SNVindel,exonic,ARNTL2,NA,synonymous SNV,"ARNTL2:NM_001248003:exon8:c.C822T:p.F274F,ARNTL2:NM_001248004:exon8:c.C789T:p.F263F,ARNTL2:NM_001248005:exon8:c.C822T:p.F274F,ARNTL2:NM_001248002:exon9:c.C891T:p.F297F,ARNTL2:NM_020183:exon10:c.C933T:p.F311F",NA,NA,NA,NA,NA,NA
chr12,27553520,27553520,C,T,R007_S,ARNTL2,Missense_Mutation,NM_001248003,exon8,c.C862T,p.P288S,SNP,SNVindel,exonic,ARNTL2,NA,nonsynonymous SNV,"ARNTL2:NM_001248003:exon8:c.C862T:p.P288S,ARNTL2:NM_001248004:exon8:c.C829T:p.P277S,ARNTL2:NM_001248005:exon8:c.C862T:p.P288S,ARNTL2:NM_001248002:exon9:c.C931T:p.P311S,ARNTL2:NM_020183:exon10:c.C973T:p.P325S",T,N,N,T,D,T
chr12,27803040,27803040,G,A,R007_S,PPFIBP1,Missense_Mutation,NM_001198915,exon5,c.G110A,p.R37K,SNP,SNVindel,exonic,PPFIBP1,NA,nonsynonymous SNV,"PPFIBP1:NM_001198915:exon5:c.G110A:p.R37K,PPFIBP1:NM_001198916:exon7:c.G569A:p.R190K,PPFIBP1:NM_003622:exon7:c.G569A:p.R190K,PPFIBP1:NM_177444:exon7:c.G569A:p.R190K",T,U,D,T,N,T
chr12,28116329,28116329,C,T,R007_S,PTHLH,Missense_Mutation,NM_198964,exon3,c.G476A,p.G159E,SNP,SNVindel,exonic,PTHLH,NA,nonsynonymous SNV,"PTHLH:NM_198964:exon3:c.G476A:p.G159E,PTHLH:NM_198966:exon3:c.G476A:p.G159E,PTHLH:NM_002820:exon4:c.G476A:p.G159E,PTHLH:NM_198965:exon5:c.G476A:p.G159E",T,N,N,D,N,T
chr12,30818749,30818749,G,A,R007_S,IPO8,Nonsense_Mutation,NM_001190995,exon8,c.C637T,p.Q213X,SNP,SNVindel,exonic,IPO8,NA,stopgain,"IPO8:NM_001190995:exon8:c.C637T:p.Q213X,IPO8:NM_006390:exon12:c.C1252T:p.Q418X",.,D,A,.,.,.
chr12,31132559,31132559,C,T,R007_S,TSPAN11,Missense_Mutation,NM_001370301,exon4,c.C380T,p.P127L,SNP,SNVindel,exonic,TSPAN11,NA,nonsynonymous SNV,"TSPAN11:NM_001370301:exon4:c.C380T:p.P127L,TSPAN11:NM_001080509:exon5:c.C410T:p.P137L,TSPAN11:NM_001370302:exon5:c.C410T:p.P137L",D,.,D,D,D,T
chr12,31814930,31814930,G,A,R007_S,ETFBKMT,Missense_Mutation,NM_001135863,exon2,c.G43A,p.G15S,SNP,SNVindel,exonic,ETFBKMT,NA,nonsynonymous SNV,"ETFBKMT:NM_001135863:exon2:c.G43A:p.G15S,ETFBKMT:NM_001135864:exon2:c.G43A:p.G15S,ETFBKMT:NM_173802:exon2:c.G43A:p.G15S",T,N,N,.,N,T
chr12,32137110,32137110,G,A,R007_S,RESF1,Missense_Mutation,NM_018169,exon4,c.G3221A,p.G1074D,SNP,SNVindel,exonic,RESF1,NA,nonsynonymous SNV,RESF1:NM_018169:exon4:c.G3221A:p.G1074D,T,N,N,T,N,T
chr12,39724593,39724593,C,T,R007_S,KIF21A,Missense_Mutation,NM_001173465,exon21,c.G3166A,p.E1056K,SNP,SNVindel,exonic,KIF21A,NA,nonsynonymous SNV,"KIF21A:NM_001173465:exon21:c.G3166A:p.E1056K,KIF21A:NM_001173463:exon22:c.G3235A:p.E1079K,KIF21A:NM_017641:exon22:c.G3235A:p.E1079K,KIF21A:NM_001173464:exon23:c.G3274A:p.E1092K",D,D,D,T,N,D
chr12,39724667,39724667,C,T,R007_S,KIF21A,Missense_Mutation,NM_001173465,exon21,c.G3092A,p.G1031D,SNP,SNVindel,exonic,KIF21A,NA,nonsynonymous SNV,"KIF21A:NM_001173465:exon21:c.G3092A:p.G1031D,KIF21A:NM_001173463:exon22:c.G3161A:p.G1054D,KIF21A:NM_017641:exon22:c.G3161A:p.G1054D,KIF21A:NM_001173464:exon23:c.G3200A:p.G1067D",D,D,D,T,D,T
chr12,40499335,40499335,G,A,R007_S,SLC2A13,Silent,NM_052885,exon1,c.C276T,p.G92G,SNP,SNVindel,exonic,SLC2A13,NA,synonymous SNV,SLC2A13:NM_052885:exon1:c.C276T:p.G92G,NA,NA,NA,NA,NA,NA
chr12,40702406,40702406,G,A,R007_S,LRRK2,Missense_Mutation,NM_198578,exon29,c.G4097A,p.S1366N,SNP,SNVindel,exonic,LRRK2,NA,nonsynonymous SNV,LRRK2:NM_198578:exon29:c.G4097A:p.S1366N,T,N,N,T,N,T
chr12,40857962,40857962,T,C,R007_S,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,40931683,40931683,G,A,R007_S,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,42631428,42631428,C,T,R007_S,YAF2,Missense_Mutation,NM_001190979,exon2,c.G125A,p.C42Y,SNP,SNVindel,exonic,YAF2,NA,nonsynonymous SNV,"YAF2:NM_001190979:exon2:c.G125A:p.C42Y,YAF2:NM_001190980:exon2:c.G125A:p.C42Y,YAF2:NM_005748:exon2:c.G125A:p.C42Y",D,D,D,D,D,D
chr12,42858233,42858233,C,T,R007_S,PRICKLE1,Missense_Mutation,NM_001144881,exon7,c.G1603A,p.D535N,SNP,SNVindel,exonic,PRICKLE1,NA,nonsynonymous SNV,"PRICKLE1:NM_001144881:exon7:c.G1603A:p.D535N,PRICKLE1:NM_001144882:exon7:c.G1603A:p.D535N,PRICKLE1:NM_001144883:exon7:c.G1603A:p.D535N,PRICKLE1:NM_153026:exon7:c.G1603A:p.D535N",T,D,D,T,N,T
chr12,42860094,42860094,C,T,R007_S,PRICKLE1,Missense_Mutation,NM_001144881,exon6,c.G677A,p.G226E,SNP,SNVindel,exonic,PRICKLE1,NA,nonsynonymous SNV,"PRICKLE1:NM_001144881:exon6:c.G677A:p.G226E,PRICKLE1:NM_001144882:exon6:c.G677A:p.G226E,PRICKLE1:NM_001144883:exon6:c.G677A:p.G226E,PRICKLE1:NM_153026:exon6:c.G677A:p.G226E",D,D,D,D,D,D
chr12,42863332,42863332,C,T,R007_S,PRICKLE1,Missense_Mutation,NM_001144881,exon4,c.G304A,p.A102T,SNP,SNVindel,exonic,PRICKLE1,NA,nonsynonymous SNV,"PRICKLE1:NM_001144881:exon4:c.G304A:p.A102T,PRICKLE1:NM_001144882:exon4:c.G304A:p.A102T,PRICKLE1:NM_001144883:exon4:c.G304A:p.A102T,PRICKLE1:NM_153026:exon4:c.G304A:p.A102T",T,N,D,D,N,T
chr12,45269132,45269132,C,T,R007_S,NELL2,Nonsense_Mutation,NM_001145108,exon2,c.G60A,p.W20X,SNP,SNVindel,exonic,NELL2,NA,stopgain,"NELL2:NM_001145108:exon2:c.G60A:p.W20X,NELL2:NM_001145109:exon2:c.G57A:p.W19X,NELL2:NM_001145107:exon3:c.G210A:p.W70X,NELL2:NM_001145110:exon3:c.G129A:p.W43X,NELL2:NM_006159:exon3:c.G60A:p.W20X",.,N,A,.,.,.
chr12,45741964,45741964,G,A,R007_S,ANO6,Missense_Mutation,NM_001025356,exon5,c.G499A,p.V167I,SNP,SNVindel,exonic,ANO6,NA,nonsynonymous SNV,"ANO6:NM_001025356:exon5:c.G499A:p.V167I,ANO6:NM_001142678:exon5:c.G445A:p.V149I,ANO6:NM_001142679:exon5:c.G499A:p.V167I,ANO6:NM_001204803:exon6:c.G562A:p.V188I",T,N,N,T,N,T
chr12,45744518,45744518,C,T,R007_S,ANO6,Missense_Mutation,NM_001025356,exon7,c.C824T,p.P275L,SNP,SNVindel,exonic,ANO6,NA,nonsynonymous SNV,"ANO6:NM_001025356:exon7:c.C824T:p.P275L,ANO6:NM_001142678:exon7:c.C770T:p.P257L,ANO6:NM_001142679:exon7:c.C824T:p.P275L,ANO6:NM_001204803:exon8:c.C887T:p.P296L",T,D,D,T,N,T
chr12,46318656,46318656,G,A,R007_S,SCAF11,Missense_Mutation,NM_004719,exon12,c.C3761T,p.P1254L,SNP,SNVindel,exonic,SCAF11,NA,nonsynonymous SNV,SCAF11:NM_004719:exon12:c.C3761T:p.P1254L,D,D,D,T,D,T
chr12,47163180,47163180,G,A,R007_S,SLC38A4,Missense_Mutation,NM_001143824,exon14,c.C1331T,p.P444L,SNP,SNVindel,exonic,SLC38A4,NA,nonsynonymous SNV,"SLC38A4:NM_001143824:exon14:c.C1331T:p.P444L,SLC38A4:NM_018018:exon15:c.C1331T:p.P444L",D,D,D,T,D,T
chr12,47172446,47172446,G,A,R007_S,SLC38A4,Silent,NM_001143824,exon10,c.C831T,p.N277N,SNP,SNVindel,exonic,SLC38A4,NA,synonymous SNV,"SLC38A4:NM_001143824:exon10:c.C831T:p.N277N,SLC38A4:NM_018018:exon11:c.C831T:p.N277N",NA,NA,NA,NA,NA,NA
chr12,48131378,48131378,G,A,R007_S,RAPGEF3,Missense_Mutation,NM_001098532,exon27,c.C2618T,p.S873F,SNP,SNVindel,exonic,RAPGEF3,NA,nonsynonymous SNV,"RAPGEF3:NM_001098532:exon27:c.C2618T:p.S873F,RAPGEF3:NM_001098531:exon28:c.C2744T:p.S915F,RAPGEF3:NM_006105:exon28:c.C2618T:p.S873F",D,N,D,T,N,T
chr12,48272822,48272822,C,T,R007_S,VDR,Silent,NM_000376,exon3,c.G75A,p.G25G,SNP,SNVindel,exonic,VDR,NA,synonymous SNV,"VDR:NM_000376:exon3:c.G75A:p.G25G,VDR:NM_001017536:exon3:c.G225A:p.G75G,VDR:NM_001017535:exon4:c.G75A:p.G25G",NA,NA,NA,NA,NA,NA
chr12,48374403,48374403,C,T,R007_S,COL2A1,Silent,NM_033150,exon38,c.G2352A,p.E784E,SNP,SNVindel,exonic,COL2A1,NA,synonymous SNV,"COL2A1:NM_033150:exon38:c.G2352A:p.E784E,COL2A1:NM_001844:exon39:c.G2559A:p.E853E",NA,NA,NA,NA,NA,NA
chr12,49110405,49110405,C,T,R007_S,CCNT1,Silent,NM_001240,exon1,c.G54A,p.Q18Q,SNP,SNVindel,exonic,CCNT1,NA,synonymous SNV,"CCNT1:NM_001240:exon1:c.G54A:p.Q18Q,CCNT1:NM_001277842:exon1:c.G54A:p.Q18Q",NA,NA,NA,NA,NA,NA
chr12,49168272,49168272,G,A,R007_S,ADCY6,Silent,NM_015270,exon14,c.C2196T,p.S732S,SNP,SNVindel,exonic,ADCY6,NA,synonymous SNV,ADCY6:NM_015270:exon14:c.C2196T:p.S732S,NA,NA,NA,NA,NA,NA
chr12,49415569,49415569,C,T,R007_S,KMT2D,Missense_Mutation,NM_003482,exon54,c.G16608A,p.M5536I,SNP,SNVindel,exonic,KMT2D,NA,nonsynonymous SNV,KMT2D:NM_003482:exon54:c.G16608A:p.M5536I,T,D,D,D,D,D
chr12,49426061,49426061,C,T,R007_S,KMT2D,Missense_Mutation,NM_003482,exon39,c.G12427A,p.D4143N,SNP,SNVindel,exonic,KMT2D,NA,nonsynonymous SNV,KMT2D:NM_003482:exon39:c.G12427A:p.D4143N,D,N,N,T,N,T
chr12,49434713,49434713,C,T,R007_S,KMT2D,Silent,NM_003482,exon31,c.G6840A,p.E2280E,SNP,SNVindel,exonic,KMT2D,NA,synonymous SNV,KMT2D:NM_003482:exon31:c.G6840A:p.E2280E,NA,NA,NA,NA,NA,NA
chr12,49436917,49436917,C,T,R007_S,KMT2D,Silent,NM_003482,exon25,c.G5586A,p.K1862K,SNP,SNVindel,exonic,KMT2D,NA,synonymous SNV,KMT2D:NM_003482:exon25:c.G5586A:p.K1862K,NA,NA,NA,NA,NA,NA
chr12,49443969,49443969,C,T,R007_S,KMT2D,Silent,NM_003482,exon11,c.G3402A,p.Q1134Q,SNP,SNVindel,exonic,KMT2D,NA,synonymous SNV,KMT2D:NM_003482:exon11:c.G3402A:p.Q1134Q,NA,NA,NA,NA,NA,NA
chr12,49720468,49720468,C,T,R007_S,TROAP,Missense_Mutation,NM_005480,exon7,c.C734T,p.A245V,SNP,SNVindel,exonic,TROAP,NA,nonsynonymous SNV,TROAP:NM_005480:exon7:c.C734T:p.A245V,T,N,D,.,N,T
chr12,49725059,49725059,G,A,R007_S,TROAP,Missense_Mutation,NM_005480,exon14,c.G2161A,p.A721T,SNP,SNVindel,exonic,TROAP,NA,nonsynonymous SNV,TROAP:NM_005480:exon14:c.G2161A:p.A721T,T,N,N,.,D,T
chr12,50059969,50059969,G,A,R007_S,FMNL3,Missense_Mutation,NM_001367835,exon3,c.C232T,p.P78S,SNP,SNVindel,exonic,FMNL3,NA,nonsynonymous SNV,"FMNL3:NM_001367835:exon3:c.C232T:p.P78S,FMNL3:NM_175736:exon3:c.C232T:p.P78S,FMNL3:NM_198900:exon3:c.C232T:p.P78S",T,D,D,D,D,D
chr12,50393415,50393415,C,T,R007_S,RACGAP1,Silent,NM_001320005,exon7,c.G558A,p.R186R,SNP,SNVindel,exonic,RACGAP1,NA,synonymous SNV,"RACGAP1:NM_001320005:exon7:c.G558A:p.R186R,RACGAP1:NM_001320007:exon7:c.G510A:p.R170R,RACGAP1:NM_001126104:exon8:c.G732A:p.R244R,RACGAP1:NM_001319999:exon8:c.G732A:p.R244R,RACGAP1:NM_001320001:exon8:c.G732A:p.R244R,RACGAP1:NM_001320002:exon8:c.G732A:p.R244R,RACGAP1:NM_001320003:exon8:c.G732A:p.R244R,RACGAP1:NM_001320004:exon8:c.G732A:p.R244R,RACGAP1:NM_001320000:exon9:c.G732A:p.R244R,RACGAP1:NM_001320006:exon9:c.G768A:p.R256R,RACGAP1:NM_001126103:exon10:c.G732A:p.R244R,RACGAP1:NM_013277:exon10:c.G732A:p.R244R",NA,NA,NA,NA,NA,NA
chr12,50479159,50479159,G,A,R007_S,SMARCD1,Missense_Mutation,NM_003076,exon1,c.G7A,p.A3T,SNP,SNVindel,exonic,SMARCD1,NA,nonsynonymous SNV,"SMARCD1:NM_003076:exon1:c.G7A:p.A3T,SMARCD1:NM_139071:exon1:c.G7A:p.A3T",D,U,D,T,N,T
chr12,50724488,50724488,C,T,R007_S,FAM186A,Missense_Mutation,NM_001145475,exon7,c.G6902A,p.S2301N,SNP,SNVindel,exonic,FAM186A,NA,nonsynonymous SNV,FAM186A:NM_001145475:exon7:c.G6902A:p.S2301N,D,D,N,T,N,T
chr12,50869446,50869446,G,A,R007_S,LARP4,Silent,NM_001170803,exon14,c.G1548A,p.E516E,SNP,SNVindel,exonic,LARP4,NA,synonymous SNV,"LARP4:NM_001170803:exon14:c.G1548A:p.E516E,LARP4:NM_001170808:exon15:c.G1761A:p.E587E,LARP4:NM_001352307:exon15:c.G1920A:p.E640E,LARP4:NM_001352308:exon15:c.G1779A:p.E593E,LARP4:NM_001352315:exon15:c.G1758A:p.E586E,LARP4:NM_001352318:exon15:c.G1551A:p.E517E,LARP4:NM_199190:exon15:c.G1761A:p.E587E,LARP4:NM_001330415:exon16:c.G1992A:p.E664E,LARP4:NM_001352305:exon16:c.G1989A:p.E663E,LARP4:NM_001352306:exon16:c.G1944A:p.E648E,LARP4:NM_001352313:exon16:c.G1764A:p.E588E,LARP4:NM_001352314:exon16:c.G1764A:p.E588E,LARP4:NM_001352316:exon16:c.G1551A:p.E517E,LARP4:NM_001352317:exon16:c.G1551A:p.E517E,LARP4:NM_001352319:exon16:c.G1548A:p.E516E,LARP4:NM_001352320:exon16:c.G1491A:p.E497E,LARP4:NM_052879:exon16:c.G1974A:p.E658E,LARP4:NM_199188:exon16:c.G1971A:p.E657E,LARP4:NM_001352309:exon17:c.G1764A:p.E588E,LARP4:NM_001352310:exon17:c.G1764A:p.E588E,LARP4:NM_001352311:exon17:c.G1764A:p.E588E,LARP4:NM_001352312:exon17:c.G1764A:p.E588E",NA,NA,NA,NA,NA,NA
chr12,51127923,51127923,C,T,R007_S,DIP2B,Silent,NM_173602,exon33,c.C3987T,p.T1329T,SNP,SNVindel,exonic,DIP2B,NA,synonymous SNV,DIP2B:NM_173602:exon33:c.C3987T:p.T1329T,NA,NA,NA,NA,NA,NA
chr12,51138487,51138487,C,T,R007_S,DIP2B,Silent,NM_173602,exon38,c.C4596T,p.L1532L,SNP,SNVindel,exonic,DIP2B,NA,synonymous SNV,DIP2B:NM_173602:exon38:c.C4596T:p.L1532L,NA,NA,NA,NA,NA,NA
chr12,51399217,51399217,G,A,R007_S,SLC11A2,Silent,NM_001174130,exon3,c.C174T,p.Y58Y,SNP,SNVindel,exonic,SLC11A2,NA,synonymous SNV,"SLC11A2:NM_001174130:exon3:c.C174T:p.Y58Y,SLC11A2:NM_000617:exon4:c.C186T:p.Y62Y,SLC11A2:NM_001174125:exon4:c.C273T:p.Y91Y,SLC11A2:NM_001174126:exon4:c.C186T:p.Y62Y,SLC11A2:NM_001174127:exon4:c.C186T:p.Y62Y,SLC11A2:NM_001174128:exon4:c.C186T:p.Y62Y,SLC11A2:NM_001174129:exon4:c.C186T:p.Y62Y",NA,NA,NA,NA,NA,NA
chr12,51458302,51458302,G,A,R007_S,CSRNP2,Missense_Mutation,NM_030809,exon5,c.C859T,p.P287S,SNP,SNVindel,exonic,CSRNP2,NA,nonsynonymous SNV,CSRNP2:NM_030809:exon5:c.C859T:p.P287S,T,D,N,T,N,T
chr12,51636200,51636200,C,T,R007_S,DAZAP2,Missense_Mutation,NM_001136266,exon4,c.C388T,p.L130F,SNP,SNVindel,exonic,DAZAP2,NA,nonsynonymous SNV,DAZAP2:NM_001136266:exon4:c.C388T:p.L130F,D,.,D,T,N,T
chr12,52056757,52056757,G,A,R007_S,SCN8A,Silent,NM_001177984,exon2,c.G156A,p.K52K,SNP,SNVindel,exonic,SCN8A,NA,synonymous SNV,"SCN8A:NM_001177984:exon2:c.G156A:p.K52K,SCN8A:NM_001330260:exon2:c.G156A:p.K52K,SCN8A:NM_001369788:exon2:c.G156A:p.K52K,SCN8A:NM_014191:exon2:c.G156A:p.K52K",NA,NA,NA,NA,NA,NA
chr12,52168060,52168060,C,T,R007_S,SCN8A,Silent,NM_001177984,exon20,c.C3733T,p.L1245L,SNP,SNVindel,exonic,SCN8A,NA,synonymous SNV,"SCN8A:NM_001177984:exon20:c.C3733T:p.L1245L,SCN8A:NM_001330260:exon20:c.C3733T:p.L1245L,SCN8A:NM_001369788:exon20:c.C3733T:p.L1245L,SCN8A:NM_014191:exon20:c.C3733T:p.L1245L",NA,NA,NA,NA,NA,NA
chr12,52307047,52307047,C,T,R007_S,ACVRL1,Missense_Mutation,NM_001077401,exon2,c.C226T,p.L76F,SNP,SNVindel,exonic,ACVRL1,NA,nonsynonymous SNV,"ACVRL1:NM_001077401:exon2:c.C226T:p.L76F,ACVRL1:NM_000020:exon3:c.C226T:p.L76F",D,N,D,D,N,T
chr12,52385709,52385709,G,A,R007_S,ACVR1B,Missense_Mutation,NM_004302,exon8,c.G1324A,p.E442K,SNP,SNVindel,exonic,ACVR1B,NA,nonsynonymous SNV,"ACVR1B:NM_004302:exon8:c.G1324A:p.E442K,ACVR1B:NM_020327:exon8:c.G1168A:p.E390K,ACVR1B:NM_020328:exon9:c.G1447A:p.E483K",D,D,D,T,D,T
chr12,52470747,52470747,G,A,R007_S,ATG101,Missense_Mutation,NM_001098673,exon4,c.G430A,p.V144M,SNP,SNVindel,exonic,ATG101,NA,nonsynonymous SNV,"ATG101:NM_001098673:exon4:c.G430A:p.V144M,ATG101:NM_021934:exon4:c.G430A:p.V144M",D,D,D,.,N,T
chr12,52600323,52600323,G,A,R007_S,C12orf80,Silent,NM_001242696,exon3,c.C342T,p.F114F,SNP,SNVindel,exonic,C12orf80,NA,synonymous SNV,C12orf80:NM_001242696:exon3:c.C342T:p.F114F,NA,NA,NA,NA,NA,NA
chr12,52632486,52632486,G,A,R007_S,KRT7,Missense_Mutation,NM_005556,exon4,c.G620A,p.S207N,SNP,SNVindel,exonic,KRT7,NA,nonsynonymous SNV,KRT7:NM_005556:exon4:c.G620A:p.S207N,T,N,N,T,N,T
chr12,52790703,52790703,C,T,R007_S,KRT82,Silent,NM_033033,exon6,c.G1032A,p.Q344Q,SNP,SNVindel,exonic,KRT82,NA,synonymous SNV,KRT82:NM_033033:exon6:c.G1032A:p.Q344Q,NA,NA,NA,NA,NA,NA
chr12,52818367,52818367,C,T,R007_S,KRT75,Silent,NM_004693,exon9,c.G1590A,p.G530G,SNP,SNVindel,exonic,KRT75,NA,synonymous SNV,KRT75:NM_004693:exon9:c.G1590A:p.G530G,NA,NA,NA,NA,NA,NA
chr12,52863507,52863507,G,A,R007_S,KRT6C,Silent,NM_173086,exon7,c.C1371T,p.A457A,SNP,SNVindel,exonic,KRT6C,NA,synonymous SNV,KRT6C:NM_173086:exon7:c.C1371T:p.A457A,NA,NA,NA,NA,NA,NA
chr12,52913728,52913728,C,T,R007_S,KRT5,Missense_Mutation,NM_000424,exon1,c.G353A,p.G118D,SNP,SNVindel,exonic,KRT5,NA,nonsynonymous SNV,KRT5:NM_000424:exon1:c.G353A:p.G118D,D,D,D,D,D,D
chr12,52966365,52966365,G,A,R007_S,KRT74,Silent,NM_175053,exon2,c.C558T,p.N186N,SNP,SNVindel,exonic,KRT74,NA,synonymous SNV,KRT74:NM_175053:exon2:c.C558T:p.N186N,NA,NA,NA,NA,NA,NA
chr12,52967232,52967232,C,T,R007_S,KRT74,Silent,NM_175053,exon1,c.G330A,p.G110G,SNP,SNVindel,exonic,KRT74,NA,synonymous SNV,KRT74:NM_175053:exon1:c.G330A:p.G110G,NA,NA,NA,NA,NA,NA
chr12,53089606,53089606,C,T,R007_S,KRT77,Missense_Mutation,NM_175078,exon4,c.G865A,p.V289M,SNP,SNVindel,exonic,KRT77,NA,nonsynonymous SNV,KRT77:NM_175078:exon4:c.G865A:p.V289M,D,.,N,D,N,T
chr12,53162638,53162638,G,A,R007_S,KRT76,Silent,NM_015848,exon9,c.C1776T,p.S592S,SNP,SNVindel,exonic,KRT76,NA,synonymous SNV,KRT76:NM_015848:exon9:c.C1776T:p.S592S,NA,NA,NA,NA,NA,NA
chr12,53184097,53184097,C,T,R007_S,KRT3,Missense_Mutation,NM_057088,exon9,c.G1616A,p.G539E,SNP,SNVindel,exonic,KRT3,NA,nonsynonymous SNV,KRT3:NM_057088:exon9:c.G1616A:p.G539E,D,N,N,D,N,D
chr12,53185490,53185490,C,T,R007_S,KRT3,Silent,NM_057088,exon6,c.G1299A,p.E433E,SNP,SNVindel,exonic,KRT3,NA,synonymous SNV,KRT3:NM_057088:exon6:c.G1299A:p.E433E,NA,NA,NA,NA,NA,NA
chr12,53201553,53201553,G,A,R007_S,KRT4,Silent,NM_002272,exon7,c.C1221T,p.A407A,SNP,SNVindel,exonic,KRT4,NA,synonymous SNV,KRT4:NM_002272:exon7:c.C1221T:p.A407A,NA,NA,NA,NA,NA,NA
chr12,53207832,53207832,C,T,R007_S,KRT4,Missense_Mutation,NM_002272,exon1,c.G11A,p.R4K,SNP,SNVindel,exonic,KRT4,NA,nonsynonymous SNV,KRT4:NM_002272:exon1:c.G11A:p.R4K,D,N,N,D,N,D
chr12,53461478,53461478,C,T,R007_S,SPRYD3,Silent,NM_032840,exon8,c.G855A,p.K285K,SNP,SNVindel,exonic,SPRYD3,NA,synonymous SNV,SPRYD3:NM_032840:exon8:c.G855A:p.K285K,NA,NA,NA,NA,NA,NA
chr12,53499364,53499364,G,A,R007_S,SOAT2,Missense_Mutation,NM_003578,exon4,c.G295A,p.G99R,SNP,SNVindel,exonic,SOAT2,NA,nonsynonymous SNV,SOAT2:NM_003578:exon4:c.G295A:p.G99R,T,N,N,T,N,T
chr12,53700067,53700067,G,T,R007_S,C12orf10,Missense_Mutation,NM_021640,exon5,c.G728T,p.R243L,SNP,SNVindel,exonic,C12orf10,NA,nonsynonymous SNV,C12orf10:NM_021640:exon5:c.G728T:p.R243L,D,D,D,T,D,T
chr12,53776894,53776894,G,A,R007_S,SP1,Missense_Mutation,NM_001251825,exon3,c.G1019A,p.G340E,SNP,SNVindel,exonic,SP1,NA,nonsynonymous SNV,"SP1:NM_001251825:exon3:c.G1019A:p.G340E,SP1:NM_003109:exon3:c.G1142A:p.G381E,SP1:NM_138473:exon3:c.G1163A:p.G388E",T,D,D,T,N,T
chr12,53899483,53899483,C,T,R007_S,TARBP2,Silent,NM_004178,exon8,c.C729T,p.T243T,SNP,SNVindel,exonic,TARBP2,NA,synonymous SNV,"TARBP2:NM_004178:exon8:c.C729T:p.T243T,TARBP2:NM_134323:exon8:c.C792T:p.T264T,TARBP2:NM_134324:exon8:c.C729T:p.T243T",NA,NA,NA,NA,NA,NA
chr12,54109604,54109604,C,T,R007_S,CALCOCO1,Silent,NM_001143682,exon8,c.G978A,p.E326E,SNP,SNVindel,exonic,CALCOCO1,NA,synonymous SNV,"CALCOCO1:NM_001143682:exon8:c.G978A:p.E326E,CALCOCO1:NM_020898:exon9:c.G1233A:p.E411E",NA,NA,NA,NA,NA,NA
chr12,54348912,54348912,C,T,R007_S,HOXC12,Missense_Mutation,NM_173860,exon1,c.C199T,p.P67S,SNP,SNVindel,exonic,HOXC12,NA,nonsynonymous SNV,HOXC12:NM_173860:exon1:c.C199T:p.P67S,T,D,D,D,N,T
chr12,54350201,54350201,C,T,R007_S,HOXC12,Silent,NM_173860,exon2,c.C700T,p.L234L,SNP,SNVindel,exonic,HOXC12,NA,synonymous SNV,HOXC12:NM_173860:exon2:c.C700T:p.L234L,NA,NA,NA,NA,NA,NA
chr12,54928961,54928961,C,T,R007_S,NCKAP1L,Missense_Mutation,NM_001184976,exon27,c.C2786T,p.A929V,SNP,SNVindel,exonic,NCKAP1L,NA,nonsynonymous SNV,"NCKAP1L:NM_001184976:exon27:c.C2786T:p.A929V,NCKAP1L:NM_005337:exon27:c.C2936T:p.A979V",T,D,D,T,D,T
chr12,55714889,55714889,C,T,R007_S,OR6C1,Missense_Mutation,NM_001005182,exon1,c.C506T,p.S169F,SNP,SNVindel,exonic,OR6C1,NA,nonsynonymous SNV,OR6C1:NM_001005182:exon1:c.C506T:p.S169F,D,N,N,T,D,T
chr12,55759061,55759061,C,T,R007_S,OR6C75,Missense_Mutation,NM_001005497,exon1,c.C167T,p.P56L,SNP,SNVindel,exonic,OR6C75,NA,nonsynonymous SNV,OR6C75:NM_001005497:exon1:c.C167T:p.P56L,D,D,D,T,D,T
chr12,56077805,56077805,C,T,R007_S,METTL7B,Missense_Mutation,NM_152637,exon2,c.C707T,p.P236L,SNP,SNVindel,exonic,METTL7B,NA,nonsynonymous SNV,METTL7B:NM_152637:exon2:c.C707T:p.P236L,D,D,D,T,D,T
chr12,56221208,56221208,C,T,R007_S,DNAJC14,Missense_Mutation,NM_032364,exon2,c.G1235A,p.G412E,SNP,SNVindel,exonic,DNAJC14,NA,nonsynonymous SNV,DNAJC14:NM_032364:exon2:c.G1235A:p.G412E,D,N,N,T,N,T
chr12,56221634,56221634,C,T,R007_S,DNAJC14,Missense_Mutation,NM_032364,exon2,c.G809A,p.G270D,SNP,SNVindel,exonic,DNAJC14,NA,nonsynonymous SNV,DNAJC14:NM_032364:exon2:c.G809A:p.G270D,D,D,D,T,N,T
chr12,56426487,56426487,C,T,R007_S,IKZF4,Silent,NM_001351090,exon5,c.C723T,p.G241G,SNP,SNVindel,exonic,IKZF4,NA,synonymous SNV,"IKZF4:NM_001351090:exon5:c.C723T:p.G241G,IKZF4:NM_001351092:exon5:c.C552T:p.G184G,IKZF4:NM_022465:exon6:c.C858T:p.G286G,IKZF4:NM_001351091:exon7:c.C717T:p.G239G,IKZF4:NM_001351089:exon10:c.C858T:p.G286G",NA,NA,NA,NA,NA,NA
chr12,56740674,56740674,G,A,R007_S,STAT2,Missense_Mutation,NM_005419,exon20,c.C1790T,p.T597I,SNP,SNVindel,exonic,STAT2,NA,nonsynonymous SNV,"STAT2:NM_005419:exon20:c.C1790T:p.T597I,STAT2:NM_198332:exon20:c.C1778T:p.T593I",D,D,D,D,D,D
chr12,56755151,56755151,G,A,R007_S,APOF,Missense_Mutation,NM_001638,exon2,c.C839T,p.A280V,SNP,SNVindel,exonic,APOF,NA,nonsynonymous SNV,APOF:NM_001638:exon2:c.C839T:p.A280V,T,N,N,T,N,T
chr12,56814640,56814640,G,A,R007_S,TIMELESS,Silent,NM_001330295,exon25,c.C3063T,p.L1021L,SNP,SNVindel,exonic,TIMELESS,NA,synonymous SNV,"TIMELESS:NM_001330295:exon25:c.C3063T:p.L1021L,TIMELESS:NM_003920:exon25:c.C3066T:p.L1022L",NA,NA,NA,NA,NA,NA
chr12,57109937,57109937,C,T,R007_S,NACA,Missense_Mutation,NM_001365896,exon3,c.G5377A,p.A1793T,SNP,SNVindel,exonic,NACA,NA,nonsynonymous SNV,"NACA:NM_001365896:exon3:c.G5377A:p.A1793T,NACA:NM_001113203:exon5:c.G1918A:p.A640T",D,.,D,T,N,T
chr12,57348718,57348718,C,T,R007_S,RDH16,Missense_Mutation,NM_003708,exon2,c.G544A,p.G182S,SNP,SNVindel,exonic,RDH16,NA,nonsynonymous SNV,RDH16:NM_003708:exon2:c.G544A:p.G182S,D,D,D,D,D,D
chr12,57389563,57389563,C,T,R007_S,GPR182,Silent,NM_007264,exon2,c.C570T,p.V190V,SNP,SNVindel,exonic,GPR182,NA,synonymous SNV,GPR182:NM_007264:exon2:c.C570T:p.V190V,NA,NA,NA,NA,NA,NA
chr12,57485001,57485001,G,A,R007_S,NAB2,Silent,NM_001330305,exon2,c.G177A,p.E59E,SNP,SNVindel,exonic,NAB2,NA,synonymous SNV,"NAB2:NM_001330305:exon2:c.G177A:p.E59E,NAB2:NM_005967:exon2:c.G177A:p.E59E",NA,NA,NA,NA,NA,NA
chr12,57493218,57493218,G,A,R007_S,STAT6,Missense_Mutation,NM_001178081,exon14,c.C1420T,p.P474S,SNP,SNVindel,exonic,STAT6,NA,nonsynonymous SNV,"STAT6:NM_001178081:exon14:c.C1420T:p.P474S,STAT6:NM_001178080:exon15:c.C1420T:p.P474S,STAT6:NM_001178078:exon16:c.C1750T:p.P584S,STAT6:NM_001178079:exon16:c.C1750T:p.P584S,STAT6:NM_003153:exon16:c.C1750T:p.P584S",T,N,N,D,N,T
chr12,57553639,57553639,C,T,R007_S,LRP1,Silent,NM_002332,exon12,c.C1830T,p.D610D,SNP,SNVindel,exonic,LRP1,NA,synonymous SNV,LRP1:NM_002332:exon12:c.C1830T:p.D610D,NA,NA,NA,NA,NA,NA
chr12,57584678,57584678,G,A,R007_S,LRP1,Silent,NM_002332,exon43,c.G7122A,p.K2374K,SNP,SNVindel,exonic,LRP1,NA,synonymous SNV,LRP1:NM_002332:exon43:c.G7122A:p.K2374K,NA,NA,NA,NA,NA,NA
chr12,57626329,57626329,C,T,R007_S,SHMT2,Missense_Mutation,NM_001166356,exon6,c.C658T,p.R220C,SNP,SNVindel,exonic,SHMT2,NA,nonsynonymous SNV,"SHMT2:NM_001166356:exon6:c.C658T:p.R220C,SHMT2:NM_001166357:exon6:c.C625T:p.R209C,SHMT2:NM_001166358:exon6:c.C625T:p.R209C,SHMT2:NM_001166359:exon6:c.C625T:p.R209C,SHMT2:NM_005412:exon6:c.C688T:p.R230C",D,D,D,T,D,D
chr12,57626563,57626563,C,T,R007_S,SHMT2,Missense_Mutation,NM_001166356,exon7,c.C764T,p.P255L,SNP,SNVindel,exonic,SHMT2,NA,nonsynonymous SNV,"SHMT2:NM_001166356:exon7:c.C764T:p.P255L,SHMT2:NM_001166357:exon7:c.C731T:p.P244L,SHMT2:NM_001166358:exon7:c.C731T:p.P244L,SHMT2:NM_001166359:exon7:c.C731T:p.P244L,SHMT2:NM_005412:exon7:c.C794T:p.P265L",D,D,D,T,D,D
chr12,57850431,57850431,G,A,R007_S,INHBE,Missense_Mutation,NM_031479,exon2,c.G853A,p.A285T,SNP,SNVindel,exonic,INHBE,NA,nonsynonymous SNV,INHBE:NM_031479:exon2:c.G853A:p.A285T,D,D,D,D,D,D
chr12,57920723,57920723,G,A,R007_S,MBD6,Missense_Mutation,NM_052897,exon7,c.G1795A,p.V599M,SNP,SNVindel,exonic,MBD6,NA,nonsynonymous SNV,MBD6:NM_052897:exon7:c.G1795A:p.V599M,D,N,N,.,N,T
chr12,57920823,57920823,G,A,R007_S,MBD6,Missense_Mutation,NM_052897,exon7,c.G1895A,p.G632D,SNP,SNVindel,exonic,MBD6,NA,nonsynonymous SNV,MBD6:NM_052897:exon7:c.G1895A:p.G632D,D,N,D,.,N,T
chr12,57962762,57962762,C,T,R007_S,KIF5A,Missense_Mutation,NM_001354705,exon6,c.C464T,p.A155V,SNP,SNVindel,exonic,KIF5A,NA,nonsynonymous SNV,"KIF5A:NM_001354705:exon6:c.C464T:p.A155V,KIF5A:NM_004984:exon9:c.C731T:p.A244V",D,D,D,T,D,D
chr12,57969503,57969503,C,T,R007_S,KIF5A,Silent,NM_001354705,exon14,c.C1719T,p.D573D,SNP,SNVindel,exonic,KIF5A,NA,synonymous SNV,"KIF5A:NM_001354705:exon14:c.C1719T:p.D573D,KIF5A:NM_004984:exon17:c.C1986T:p.D662D",NA,NA,NA,NA,NA,NA
chr12,57974948,57974948,C,T,R007_S,KIF5A,Silent,NM_001354705,exon21,c.C2481T,p.A827A,SNP,SNVindel,exonic,KIF5A,NA,synonymous SNV,"KIF5A:NM_001354705:exon21:c.C2481T:p.A827A,KIF5A:NM_004984:exon24:c.C2748T:p.A916A",NA,NA,NA,NA,NA,NA
chr12,57994682,57994682,C,T,R007_S,PIP4K2C,Missense_Mutation,NM_001146260,exon7,c.C758T,p.P253L,SNP,SNVindel,exonic,PIP4K2C,NA,nonsynonymous SNV,"PIP4K2C:NM_001146260:exon7:c.C758T:p.P253L,PIP4K2C:NM_001146258:exon8:c.C902T:p.P301L,PIP4K2C:NM_001146259:exon8:c.C848T:p.P283L,PIP4K2C:NM_024779:exon8:c.C902T:p.P301L",T,N,D,T,N,T
chr12,58007534,58007534,G,A,R007_S,ARHGEF25,Silent,NM_001347933,exon5,c.G543A,p.Q181Q,SNP,SNVindel,exonic,ARHGEF25,NA,synonymous SNV,"ARHGEF25:NM_001347933:exon5:c.G543A:p.Q181Q,ARHGEF25:NM_182947:exon5:c.G543A:p.Q181Q,ARHGEF25:NM_001111270:exon6:c.G660A:p.Q220Q",NA,NA,NA,NA,NA,NA
chr12,58009732,58009732,C,T,R007_S,ARHGEF25,Missense_Mutation,NM_001347933,exon12,c.C1262T,p.P421L,SNP,SNVindel,exonic,ARHGEF25,NA,nonsynonymous SNV,"ARHGEF25:NM_001347933:exon12:c.C1262T:p.P421L,ARHGEF25:NM_182947:exon13:c.C1352T:p.P451L,ARHGEF25:NM_001111270:exon14:c.C1469T:p.P490L",T,N,D,T,D,T
chr12,58016866,58016866,C,T,R007_S,SLC26A10,Silent,NM_133489,exon7,c.C999T,p.N333N,SNP,SNVindel,exonic,SLC26A10,NA,synonymous SNV,SLC26A10:NM_133489:exon7:c.C999T:p.N333N,NA,NA,NA,NA,NA,NA
chr12,58017627,58017627,C,T,R007_S,SLC26A10,Silent,NM_133489,exon8,c.C1062T,p.G354G,SNP,SNVindel,exonic,SLC26A10,NA,synonymous SNV,SLC26A10:NM_133489:exon8:c.C1062T:p.G354G,NA,NA,NA,NA,NA,NA
chr12,58144802,58144802,C,T,R007_S,CDK4,Silent,NM_000075,exon4,c.G426A,p.K142K,SNP,SNVindel,exonic,CDK4,NA,synonymous SNV,CDK4:NM_000075:exon4:c.G426A:p.K142K,NA,NA,NA,NA,NA,NA
chr12,58217763,58217763,C,T,R007_S,CTDSP2,Missense_Mutation,NM_005730,exon7,c.G614A,p.R205H,SNP,SNVindel,exonic,CTDSP2,NA,nonsynonymous SNV,CTDSP2:NM_005730:exon7:c.G614A:p.R205H,D,N,D,T,D,T
chr12,63328504,63328504,C,T,R007_S,PPM1H,Missense_Mutation,NM_020700,exon1,c.G13A,p.V5M,SNP,SNVindel,exonic,PPM1H,NA,nonsynonymous SNV,PPM1H:NM_020700:exon1:c.G13A:p.V5M,D,.,D,T,N,T
chr12,64436598,64436598,C,T,R007_S,SRGAP1,Missense_Mutation,NM_001346201,exon5,c.C518T,p.A173V,SNP,SNVindel,exonic,SRGAP1,NA,nonsynonymous SNV,"SRGAP1:NM_001346201:exon5:c.C518T:p.A173V,SRGAP1:NM_020762:exon5:c.C518T:p.A173V",D,U,D,T,N,T
chr12,64437253,64437253,G,A,R007_S,SRGAP1,Silent,NM_001346201,exon6,c.G699A,p.K233K,SNP,SNVindel,exonic,SRGAP1,NA,synonymous SNV,"SRGAP1:NM_001346201:exon6:c.G699A:p.K233K,SRGAP1:NM_020762:exon6:c.G699A:p.K233K",NA,NA,NA,NA,NA,NA
chr12,64505754,64505754,G,A,R007_S,SRGAP1,Missense_Mutation,NM_001346201,exon17,c.G2063A,p.G688E,SNP,SNVindel,exonic,SRGAP1,NA,nonsynonymous SNV,"SRGAP1:NM_001346201:exon17:c.G2063A:p.G688E,SRGAP1:NM_020762:exon17:c.G2132A:p.G711E",T,U,D,T,N,T
chr12,65445226,65445226,G,A,R007_S,WIF1,Missense_Mutation,NM_007191,exon10,c.C1043T,p.A348V,SNP,SNVindel,exonic,WIF1,NA,nonsynonymous SNV,WIF1:NM_007191:exon10:c.C1043T:p.A348V,D,N,D,T,N,T
chr12,65564127,65564127,C,T,R007_S,LEMD3,Missense_Mutation,NM_001167614,exon1,c.C751T,p.P251S,SNP,SNVindel,exonic,LEMD3,NA,nonsynonymous SNV,"LEMD3:NM_001167614:exon1:c.C751T:p.P251S,LEMD3:NM_014319:exon1:c.C751T:p.P251S",T,N,N,T,N,T
chr12,66597602,66597602,C,T,R007_S,IRAK3,Missense_Mutation,NM_007199,exon2,c.C245T,p.T82I,SNP,SNVindel,exonic,IRAK3,NA,nonsynonymous SNV,IRAK3:NM_007199:exon2:c.C245T:p.T82I,T,D,D,T,D,D
chr12,66704114,66704114,C,A,R007_S,HELB,Missense_Mutation,NM_001370285,exon4,c.C1406A,p.P469H,SNP,SNVindel,exonic,HELB,NA,nonsynonymous SNV,"HELB:NM_001370285:exon4:c.C1406A:p.P469H,HELB:NM_033647:exon4:c.C1406A:p.P469H",D,D,D,T,D,T
chr12,67700281,67700281,G,A,R007_S,CAND1,Missense_Mutation,NM_018448,exon10,c.G2833A,p.E945K,SNP,SNVindel,exonic,CAND1,NA,nonsynonymous SNV,"CAND1:NM_018448:exon10:c.G2833A:p.E945K,CAND1:NM_001329674:exon11:c.G2761A:p.E921K,CAND1:NM_001329675:exon11:c.G2761A:p.E921K,CAND1:NM_001329676:exon11:c.G2734A:p.E912K",D,D,D,T,D,T
chr12,68052141,68052141,G,A,R007_S,DYRK2,Missense_Mutation,NM_003583,exon2,c.G1235A,p.G412E,SNP,SNVindel,exonic,DYRK2,NA,nonsynonymous SNV,"DYRK2:NM_003583:exon2:c.G1235A:p.G412E,DYRK2:NM_006482:exon3:c.G1454A:p.G485E",D,D,D,T,D,T
chr12,68696474,68696474,G,A,R007_S,MDM1,Missense_Mutation,NM_001354974,exon11,c.C1058T,p.P353L,SNP,SNVindel,exonic,MDM1,NA,nonsynonymous SNV,"MDM1:NM_001354974:exon11:c.C1058T:p.P353L,MDM1:NM_001205028:exon12:c.C1793T:p.P598L,MDM1:NM_001354970:exon12:c.C1778T:p.P593L,MDM1:NM_001368282:exon12:c.C1088T:p.P363L,MDM1:NM_017440:exon12:c.C1898T:p.P633L,MDM1:NM_001354969:exon13:c.C1928T:p.P643L,MDM1:NM_001354972:exon13:c.C1088T:p.P363L,MDM1:NM_001354973:exon13:c.C1088T:p.P363L,MDM1:NM_001354971:exon14:c.C1088T:p.P363L",T,N,N,T,N,T
chr12,70824367,70824367,C,T,R007_S,KCNMB4,Silent,NM_014505,exon3,c.C567T,p.V189V,SNP,SNVindel,exonic,KCNMB4,NA,synonymous SNV,KCNMB4:NM_014505:exon3:c.C567T:p.V189V,NA,NA,NA,NA,NA,NA
chr12,70988289,70988289,C,T,R007_S,PTPRB,Missense_Mutation,NM_001206971,exon4,c.G820A,p.A274T,SNP,SNVindel,exonic,PTPRB,NA,nonsynonymous SNV,"PTPRB:NM_001206971:exon4:c.G820A:p.A274T,PTPRB:NM_001206972:exon4:c.G820A:p.A274T,PTPRB:NM_002837:exon4:c.G820A:p.A274T,PTPRB:NM_001109754:exon6:c.G1474A:p.A492T,PTPRB:NM_001330204:exon6:c.G1474A:p.A492T",D,D,D,T,N,T
chr12,71286605,71286605,C,T,R007_S,PTPRR,Missense_Mutation,NM_002849,exon2,c.G211A,p.E71K,SNP,SNVindel,exonic,PTPRR,NA,nonsynonymous SNV,PTPRR:NM_002849:exon2:c.G211A:p.E71K,T,U,N,T,N,T
chr12,71976287,71976287,C,T,R007_S,LGR5,Missense_Mutation,NM_001277226,exon16,c.C1532T,p.A511V,SNP,SNVindel,exonic,LGR5,NA,nonsynonymous SNV,"LGR5:NM_001277226:exon16:c.C1532T:p.A511V,LGR5:NM_001277227:exon16:c.C1388T:p.A463V,LGR5:NM_003667:exon17:c.C1604T:p.A535V",T,N,N,T,N,T
chr12,71977766,71977766,C,T,R007_S,LGR5,Missense_Mutation,NM_001277226,exon17,c.C1904T,p.A635V,SNP,SNVindel,exonic,LGR5,NA,nonsynonymous SNV,"LGR5:NM_001277226:exon17:c.C1904T:p.A635V,LGR5:NM_001277227:exon17:c.C1760T:p.A587V,LGR5:NM_003667:exon18:c.C1976T:p.A659V",D,D,D,T,D,D
chr12,72366368,72366368,G,A,R007_S,TPH2,Silent,NM_173353,exon6,c.G678A,p.E226E,SNP,SNVindel,exonic,TPH2,NA,synonymous SNV,TPH2:NM_173353:exon6:c.G678A:p.E226E,NA,NA,NA,NA,NA,NA
chr12,76739816,76739816,C,T,R007_S,BBS10,Missense_Mutation,NM_024685,exon2,c.G1949A,p.G650E,SNP,SNVindel,exonic,BBS10,NA,nonsynonymous SNV,BBS10:NM_024685:exon2:c.G1949A:p.G650E,T,N,D,D,N,D
chr12,77424110,77424110,C,T,R007_S,E2F7,Missense_Mutation,NM_203394,exon10,c.G1385A,p.G462E,SNP,SNVindel,exonic,E2F7,NA,nonsynonymous SNV,E2F7:NM_203394:exon10:c.G1385A:p.G462E,T,N,N,T,N,T
chr12,77458337,77458337,C,T,R007_S,E2F7,Missense_Mutation,NM_203394,exon2,c.G79A,p.E27K,SNP,SNVindel,exonic,E2F7,NA,nonsynonymous SNV,E2F7:NM_203394:exon2:c.G79A:p.E27K,D,N,N,D,N,T
chr12,78513455,78513455,G,A,R007_S,NAV3,Missense_Mutation,NM_001024383,exon15,c.G3479A,p.S1160N,SNP,SNVindel,exonic,NAV3,NA,nonsynonymous SNV,"NAV3:NM_001024383:exon15:c.G3479A:p.S1160N,NAV3:NM_014903:exon15:c.G3479A:p.S1160N",D,U,D,T,N,T
chr12,80615898,80615898,G,A,R007_S,OTOGL,Missense_Mutation,NM_173591,exon6,c.G335A,p.G112E,SNP,SNVindel,exonic,OTOGL,NA,nonsynonymous SNV,"OTOGL:NM_173591:exon6:c.G335A:p.G112E,OTOGL:NM_001368062:exon12:c.G335A:p.G112E",T,.,D,T,D,T
chr12,81111309,81111309,C,T,R007_S,MYF5,Missense_Mutation,NM_005593,exon1,c.C467T,p.P156L,SNP,SNVindel,exonic,MYF5,NA,nonsynonymous SNV,MYF5:NM_005593:exon1:c.C467T:p.P156L,D,D,D,D,D,D
chr12,89916693,89916693,C,T,R007_S,GALNT4,Missense_Mutation,NM_003774,exon1,c.G1634A,p.G545E,SNP,SNVindel,exonic,GALNT4;POC1B-GALNT4,NA,nonsynonymous SNV,"GALNT4:NM_003774:exon1:c.G1634A:p.G545E,POC1B-GALNT4:NM_001199781:exon3:c.G1625A:p.G542E,POC1B-GALNT4:NM_001199782:exon3:c.G1118A:p.G373E",D,.,D,T,N,T
chr12,91347954,91347954,G,A,R007_S,CCER1,Missense_Mutation,NM_152638,exon1,c.C566T,p.T189I,SNP,SNVindel,exonic,CCER1,NA,nonsynonymous SNV,CCER1:NM_152638:exon1:c.C566T:p.T189I,D,N,D,T,N,T
chr12,91498011,91498011,G,A,R007_S,LUM,Silent,NM_002345,exon3,c.C948T,p.I316I,SNP,SNVindel,exonic,LUM,NA,synonymous SNV,LUM:NM_002345:exon3:c.C948T:p.I316I,NA,NA,NA,NA,NA,NA
chr12,93162837,93162837,C,T,R007_S,PLEKHG7,Missense_Mutation,NM_001004330,exon11,c.C1013T,p.A338V,SNP,SNVindel,exonic,PLEKHG7,NA,nonsynonymous SNV,PLEKHG7:NM_001004330:exon11:c.C1013T:p.A338V,D,D,D,T,D,D
chr12,94641720,94641720,C,T,R007_S,PLXNC1,Silent,NM_005761,exon13,c.C2430T,p.A810A,SNP,SNVindel,exonic,PLXNC1,NA,synonymous SNV,PLXNC1:NM_005761:exon13:c.C2430T:p.A810A,NA,NA,NA,NA,NA,NA
chr12,94761629,94761629,C,T,R007_S,CEP83,Silent,NM_001368041,exon8,c.G1059A,p.E353E,SNP,SNVindel,exonic,CEP83,NA,synonymous SNV,"CEP83:NM_001368041:exon8:c.G1059A:p.E353E,CEP83:NM_001042399:exon10:c.G1284A:p.E428E,CEP83:NM_001346457:exon10:c.G1284A:p.E428E,CEP83:NM_001346459:exon10:c.G972A:p.E324E,CEP83:NM_001368038:exon10:c.G1284A:p.E428E,CEP83:NM_001368040:exon10:c.G972A:p.E324E,CEP83:NM_001346458:exon11:c.G972A:p.E324E,CEP83:NM_001368037:exon11:c.G1284A:p.E428E,CEP83:NM_001368039:exon11:c.G972A:p.E324E,CEP83:NM_016122:exon11:c.G1284A:p.E428E",NA,NA,NA,NA,NA,NA
chr12,94975508,94975508,C,T,R007_S,TMCC3,Silent,NM_001301036,exon2,c.G792A,p.R264R,SNP,SNVindel,exonic,TMCC3,NA,synonymous SNV,"TMCC3:NM_001301036:exon2:c.G792A:p.R264R,TMCC3:NM_020698:exon2:c.G885A:p.R295R",NA,NA,NA,NA,NA,NA
chr12,94975892,94975892,C,T,R007_S,TMCC3,Silent,NM_001301036,exon2,c.G408A,p.L136L,SNP,SNVindel,exonic,TMCC3,NA,synonymous SNV,"TMCC3:NM_001301036:exon2:c.G408A:p.L136L,TMCC3:NM_020698:exon2:c.G501A:p.L167L",NA,NA,NA,NA,NA,NA
chr12,94976314,94976314,C,T,R007_S,TMCC3,Missense_Mutation,NM_020698,exon2,c.G79A,p.V27I,SNP,SNVindel,exonic,TMCC3,NA,nonsynonymous SNV,TMCC3:NM_020698:exon2:c.G79A:p.V27I,T,N,D,T,N,T
chr12,95424641,95424641,C,T,R007_S,NR2C1,Missense_Mutation,NM_001127362,exon12,c.G1402A,p.V468I,SNP,SNVindel,exonic,NR2C1,NA,nonsynonymous SNV,NR2C1:NM_001127362:exon12:c.G1402A:p.V468I,T,.,N,D,N,T
chr12,95442987,95442987,C,T,R007_S,NR2C1,Missense_Mutation,NM_001032287,exon9,c.G988A,p.A330T,SNP,SNVindel,exonic,NR2C1,NA,nonsynonymous SNV,"NR2C1:NM_001032287:exon9:c.G988A:p.A330T,NR2C1:NM_001127362:exon9:c.G988A:p.A330T,NR2C1:NM_003297:exon9:c.G988A:p.A330T",T,D,D,D,N,D
chr12,99166933,99166933,G,A,R007_S,ANKS1B,Missense_Mutation,NM_001352211,exon6,c.C184T,p.R62C,SNP,SNVindel,exonic,ANKS1B,NA,nonsynonymous SNV,"ANKS1B:NM_001352211:exon6:c.C184T:p.R62C,ANKS1B:NM_001352224:exon6:c.C184T:p.R62C,ANKS1B:NM_001352212:exon7:c.C184T:p.R62C,ANKS1B:NM_001352216:exon7:c.C184T:p.R62C,ANKS1B:NM_001352217:exon7:c.C184T:p.R62C,ANKS1B:NM_001352220:exon7:c.C184T:p.R62C,ANKS1B:NM_001204080:exon8:c.C409T:p.R137C,ANKS1B:NM_001204081:exon8:c.C409T:p.R137C,ANKS1B:NM_001352194:exon8:c.C781T:p.R261C,ANKS1B:NM_001352201:exon8:c.C781T:p.R261C,ANKS1B:NM_001352207:exon8:c.C409T:p.R137C,ANKS1B:NM_001352209:exon8:c.C409T:p.R137C,ANKS1B:NM_001352210:exon8:c.C334T:p.R112C,ANKS1B:NM_001352213:exon8:c.C184T:p.R62C,ANKS1B:NM_001352214:exon8:c.C184T:p.R62C,ANKS1B:NM_001352218:exon8:c.C184T:p.R62C,ANKS1B:NM_001352221:exon8:c.C409T:p.R137C,ANKS1B:NM_001352225:exon8:c.C334T:p.R112C,ANKS1B:NM_001204065:exon9:c.C481T:p.R161C,ANKS1B:NM_001204070:exon9:c.C889T:p.R297C,ANKS1B:NM_001204079:exon9:c.C484T:p.R162C,ANKS1B:NM_001352199:exon9:c.C889T:p.R297C,ANKS1B:NM_001352203:exon9:c.C856T:p.R286C,ANKS1B:NM_001352208:exon9:c.C481T:p.R161C,ANKS1B:NM_001352219:exon9:c.C484T:p.R162C,ANKS1B:NM_001352222:exon9:c.C481T:p.R161C,ANKS1B:NM_001352223:exon9:c.C484T:p.R162C,ANKS1B:NM_020140:exon9:c.C889T:p.R297C,ANKS1B:NM_001204066:exon10:c.C685T:p.R229C,ANKS1B:NM_001204067:exon10:c.C796T:p.R266C,ANKS1B:NM_001204068:exon10:c.C1069T:p.R357C,ANKS1B:NM_001204069:exon10:c.C961T:p.R321C,ANKS1B:NM_001352191:exon10:c.C718T:p.R240C,ANKS1B:NM_001352197:exon10:c.C1069T:p.R357C,ANKS1B:NM_001352202:exon10:c.C1069T:p.R357C,ANKS1B:NM_001352204:exon10:c.C1069T:p.R357C,ANKS1B:NM_001352206:exon10:c.C961T:p.R321C,ANKS1B:NM_001352192:exon11:c.C898T:p.R300C,ANKS1B:NM_001352193:exon11:c.C898T:p.R300C,ANKS1B:NM_001352195:exon11:c.C1141T:p.R381C,ANKS1B:NM_001352196:exon11:c.C1141T:p.R381C,ANKS1B:NM_001352198:exon11:c.C1144T:p.R382C,ANKS1B:NM_001352200:exon11:c.C1144T:p.R382C,ANKS1B:NM_001352205:exon11:c.C1144T:p.R382C,ANKS1B:NM_181670:exon11:c.C1141T:p.R381C,ANKS1B:NM_001352189:exon12:c.C1048T:p.R350C,ANKS1B:NM_001352190:exon12:c.C1051T:p.R351C,ANKS1B:NM_001352185:exon24:c.C3391T:p.R1131C,ANKS1B:NM_001352187:exon24:c.C3391T:p.R1131C,ANKS1B:NM_152788:exon24:c.C3391T:p.R1131C,ANKS1B:NM_001352186:exon25:c.C3466T:p.R1156C,ANKS1B:NM_001352188:exon25:c.C3463T:p.R1155C",D,D,D,T,D,T
chr12,100042366,100042366,C,T,R007_S,FAM71C,Silent,NM_153364,exon1,c.C414T,p.L138L,SNP,SNVindel,exonic,FAM71C,NA,synonymous SNV,FAM71C:NM_153364:exon1:c.C414T:p.L138L,NA,NA,NA,NA,NA,NA
chr12,101018230,101018230,C,T,R007_S,GAS2L3,Silent,NM_001303130,exon9,c.C1647T,p.V549V,SNP,SNVindel,exonic,GAS2L3,NA,synonymous SNV,"GAS2L3:NM_001303130:exon9:c.C1647T:p.V549V,GAS2L3:NM_001303131:exon10:c.C1335T:p.V445V,GAS2L3:NM_001363672:exon10:c.C1647T:p.V549V,GAS2L3:NM_174942:exon10:c.C1647T:p.V549V",NA,NA,NA,NA,NA,NA
chr12,102046499,102046499,G,A,R007_S,MYBPC1,Missense_Mutation,NM_001254722,exon13,c.G1417A,p.G473S,SNP,SNVindel,exonic,MYBPC1,NA,nonsynonymous SNV,"MYBPC1:NM_001254722:exon13:c.G1417A:p.G473S,MYBPC1:NM_001254720:exon14:c.G1459A:p.G487S,MYBPC1:NM_001254721:exon14:c.G1438A:p.G480S,MYBPC1:NM_001254723:exon14:c.G1456A:p.G486S,MYBPC1:NM_001254718:exon15:c.G1495A:p.G499S,MYBPC1:NM_001254719:exon15:c.G1495A:p.G499S,MYBPC1:NM_206820:exon15:c.G1495A:p.G499S,MYBPC1:NM_206821:exon15:c.G1495A:p.G499S,MYBPC1:NM_002465:exon17:c.G1570A:p.G524S,MYBPC1:NM_206819:exon17:c.G1570A:p.G524S",D,N,D,T,D,D
chr12,102091773,102091773,C,T,R007_S,CHPT1,Missense_Mutation,NM_020244,exon1,c.C134T,p.P45L,SNP,SNVindel,exonic,CHPT1,NA,nonsynonymous SNV,CHPT1:NM_020244:exon1:c.C134T:p.P45L,T,N,D,T,N,T
chr12,102183732,102183732,C,T,R007_S,GNPTAB,Missense_Mutation,NM_024312,exon3,c.G307A,p.E103K,SNP,SNVindel,exonic,GNPTAB,NA,nonsynonymous SNV,GNPTAB:NM_024312:exon3:c.G307A:p.E103K,D,D,D,D,N,D
chr12,102558358,102558358,C,T,R007_S,PARPBP,Missense_Mutation,NM_001319994,exon5,c.C395T,p.A132V,SNP,SNVindel,exonic,PARPBP,NA,nonsynonymous SNV,"PARPBP:NM_001319994:exon5:c.C395T:p.A132V,PARPBP:NM_017915:exon5:c.C638T:p.A213V,PARPBP:NM_001319988:exon6:c.C869T:p.A290V,PARPBP:NM_001319993:exon6:c.C395T:p.A132V,PARPBP:NM_001319995:exon6:c.C395T:p.A132V",D,D,D,T,D,T
chr12,104152926,104152926,G,A,R007_S,STAB2,Missense_Mutation,NM_017564,exon65,c.G7123A,p.D2375N,SNP,SNVindel,exonic,STAB2,NA,nonsynonymous SNV,STAB2:NM_017564:exon65:c.G7123A:p.D2375N,D,D,D,D,D,D
chr12,104181242,104181242,C,T,R007_S,NT5DC3,Missense_Mutation,NM_001031701,exon11,c.G1165A,p.D389N,SNP,SNVindel,exonic,NT5DC3,NA,nonsynonymous SNV,NT5DC3:NM_001031701:exon11:c.G1165A:p.D389N,D,D,D,T,D,D
chr12,104719148,104719148,C,T,R007_S,TXNRD1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TXNRD1,NA,unknown,UNKNOWN,D,D,D,T,N,T
chr12,105464523,105464523,C,T,R007_S,ALDH1L2,Missense_Mutation,NM_001034173,exon3,c.G253A,p.G85S,SNP,SNVindel,exonic,ALDH1L2,NA,nonsynonymous SNV,ALDH1L2:NM_001034173:exon3:c.G253A:p.G85S,D,D,D,T,D,D
chr12,105571010,105571010,C,T,R007_S,APPL2,Silent,NM_001251904,exon18,c.G1683A,p.R561R,SNP,SNVindel,exonic,APPL2,NA,synonymous SNV,"APPL2:NM_001251904:exon18:c.G1683A:p.R561R,APPL2:NM_001251905:exon18:c.G1536A:p.R512R,APPL2:NM_018171:exon18:c.G1665A:p.R555R",NA,NA,NA,NA,NA,NA
chr12,107109207,107109207,C,T,R007_S,RFX4,Silent,NM_032491,exon7,c.C741T,p.D247D,SNP,SNVindel,exonic,RFX4,NA,synonymous SNV,"RFX4:NM_032491:exon7:c.C741T:p.D247D,RFX4:NM_001206691:exon11:c.C1050T:p.D350D,RFX4:NM_213594:exon11:c.C1023T:p.D341D",NA,NA,NA,NA,NA,NA
chr12,107372151,107372151,G,A,R007_S,MTERF2,Silent,NM_001033050,exon3,c.C342T,p.T114T,SNP,SNVindel,exonic,MTERF2,NA,synonymous SNV,"MTERF2:NM_001033050:exon3:c.C342T:p.T114T,MTERF2:NM_025198:exon3:c.C342T:p.T114T",NA,NA,NA,NA,NA,NA
chr12,107713305,107713305,C,T,R007_S,BTBD11,Silent,NM_001018072,exon1,c.C588T,p.G196G,SNP,SNVindel,exonic,BTBD11,NA,synonymous SNV,"BTBD11:NM_001018072:exon1:c.C588T:p.G196G,BTBD11:NM_001347943:exon1:c.C588T:p.G196G",NA,NA,NA,NA,NA,NA
chr12,108098511,108098511,C,T,R007_S,PWP1,Missense_Mutation,NM_001317962,exon11,c.C878T,p.P293L,SNP,SNVindel,exonic,PWP1,NA,nonsynonymous SNV,"PWP1:NM_001317962:exon11:c.C878T:p.P293L,PWP1:NM_001317963:exon11:c.C428T:p.P143L,PWP1:NM_007062:exon11:c.C1064T:p.P355L",D,D,D,T,D,T
chr12,109523534,109523534,G,A,R007_S,USP30,Missense_Mutation,NM_032663,exon13,c.G1352A,p.G451E,SNP,SNVindel,exonic,USP30,NA,nonsynonymous SNV,"USP30:NM_032663:exon13:c.G1352A:p.G451E,USP30:NM_001301175:exon16:c.G1259A:p.G420E",D,D,D,D,D,D
chr12,109719311,109719311,C,T,R007_S,FOXN4,Missense_Mutation,NM_213596,exon9,c.G1195A,p.A399T,SNP,SNVindel,exonic,FOXN4,NA,nonsynonymous SNV,FOXN4:NM_213596:exon9:c.G1195A:p.A399T,T,N,N,D,N,T
chr12,110240849,110240849,G,A,R007_S,TRPV4,Missense_Mutation,NM_001177428,exon3,c.C659T,p.T220I,SNP,SNVindel,exonic,TRPV4,NA,nonsynonymous SNV,"TRPV4:NM_001177428:exon3:c.C659T:p.T220I,TRPV4:NM_001177433:exon3:c.C659T:p.T220I,TRPV4:NM_147204:exon3:c.C659T:p.T220I,TRPV4:NM_001177431:exon4:c.C557T:p.T186I,TRPV4:NM_021625:exon4:c.C659T:p.T220I",D,D,D,D,D,D
chr12,110252478,110252478,C,T,R007_S,TRPV4,Missense_Mutation,NM_001177428,exon1,c.G124A,p.G42R,SNP,SNVindel,exonic,TRPV4,NA,nonsynonymous SNV,"TRPV4:NM_001177428:exon1:c.G124A:p.G42R,TRPV4:NM_001177433:exon1:c.G124A:p.G42R,TRPV4:NM_147204:exon1:c.G124A:p.G42R,TRPV4:NM_021625:exon2:c.G124A:p.G42R",D,U,D,D,N,T
chr12,110819698,110819698,C,T,R007_S,ANAPC7,Missense_Mutation,NM_001137664,exon8,c.G1093A,p.A365T,SNP,SNVindel,exonic,ANAPC7,NA,nonsynonymous SNV,"ANAPC7:NM_001137664:exon8:c.G1093A:p.A365T,ANAPC7:NM_016238:exon8:c.G1093A:p.A365T",D,D,D,T,D,D
chr12,111291331,111291331,C,T,R007_S,CCDC63,Silent,NM_001286243,exon2,c.C12T,p.S4S,SNP,SNVindel,exonic,CCDC63,NA,synonymous SNV,"CCDC63:NM_001286243:exon2:c.C12T:p.S4S,CCDC63:NM_152591:exon3:c.C132T:p.S44S",NA,NA,NA,NA,NA,NA
chr12,111321854,111321854,G,A,R007_S,CCDC63,Missense_Mutation,NM_001286244,exon6,c.G637A,p.V213I,SNP,SNVindel,exonic,CCDC63,NA,nonsynonymous SNV,"CCDC63:NM_001286244:exon6:c.G637A:p.V213I,CCDC63:NM_001286243:exon7:c.G754A:p.V252I,CCDC63:NM_152591:exon8:c.G874A:p.V292I",T,N,N,T,N,T
chr12,112182469,112182469,G,A,R007_S,ACAD10,Silent,NM_025247,exon13,c.G1737A,p.A579A,SNP,SNVindel,exonic,ACAD10,NA,synonymous SNV,"ACAD10:NM_025247:exon13:c.G1737A:p.A579A,ACAD10:NM_001136538:exon14:c.G1830A:p.A610A",NA,NA,NA,NA,NA,NA
chr12,112610490,112610490,C,T,R007_S,HECTD4,Missense_Mutation,NM_001109662,exon67,c.G11800A,p.V3934M,SNP,SNVindel,exonic,HECTD4,NA,nonsynonymous SNV,HECTD4:NM_001109662:exon67:c.G11800A:p.V3934M,.,.,N,.,.,T
chr12,112614488,112614488,C,T,R007_S,HECTD4,Silent,NM_001109662,exon65,c.G11412A,p.E3804E,SNP,SNVindel,exonic,HECTD4,NA,synonymous SNV,HECTD4:NM_001109662:exon65:c.G11412A:p.E3804E,NA,NA,NA,NA,NA,NA
chr12,112646351,112646351,G,A,R007_S,HECTD4,Missense_Mutation,NM_001109662,exon51,c.C7981T,p.P2661S,SNP,SNVindel,exonic,HECTD4,NA,nonsynonymous SNV,HECTD4:NM_001109662:exon51:c.C7981T:p.P2661S,.,.,D,.,.,T
chr12,112650454,112650454,C,T,R007_S,HECTD4,Missense_Mutation,NM_001109662,exon49,c.G7496A,p.G2499D,SNP,SNVindel,exonic,HECTD4,NA,nonsynonymous SNV,HECTD4:NM_001109662:exon49:c.G7496A:p.G2499D,T,.,D,T,N,T
chr12,112685910,112685910,C,T,R007_S,HECTD4,Silent,NM_001109662,exon27,c.G4239A,p.E1413E,SNP,SNVindel,exonic,HECTD4,NA,synonymous SNV,HECTD4:NM_001109662:exon27:c.G4239A:p.E1413E,NA,NA,NA,NA,NA,NA
chr12,113314518,113314518,C,T,R007_S,RPH3A,Missense_Mutation,NM_001347955,exon12,c.C817T,p.P273S,SNP,SNVindel,exonic,RPH3A,NA,nonsynonymous SNV,"RPH3A:NM_001347955:exon12:c.C817T:p.P273S,RPH3A:NM_014954:exon12:c.C1006T:p.P336S,RPH3A:NM_001143854:exon13:c.C1018T:p.P340S,RPH3A:NM_001347952:exon13:c.C1018T:p.P340S,RPH3A:NM_001347953:exon13:c.C1018T:p.P340S,RPH3A:NM_001347954:exon13:c.C1018T:p.P340S",T,N,D,T,N,T
chr12,113354532,113354532,C,T,R007_S,OAS1,Silent,NM_001032409,exon4,c.C873T,p.L291L,SNP,SNVindel,exonic,OAS1,NA,synonymous SNV,"OAS1:NM_001032409:exon4:c.C873T:p.L291L,OAS1:NM_001320151:exon4:c.C873T:p.L291L,OAS1:NM_002534:exon4:c.C873T:p.L291L,OAS1:NM_016816:exon4:c.C873T:p.L291L",NA,NA,NA,NA,NA,NA
chr12,113532910,113532910,C,T,R007_S,DTX1,Missense_Mutation,NM_004416,exon7,c.C1450T,p.P484S,SNP,SNVindel,exonic,DTX1,NA,nonsynonymous SNV,DTX1:NM_004416:exon7:c.C1450T:p.P484S,D,D,D,T,D,T
chr12,113623250,113623250,C,T,R007_S,DDX54,Missense_Mutation,NM_001111322,exon1,c.G7A,p.A3T,SNP,SNVindel,exonic,DDX54,NA,nonsynonymous SNV,"DDX54:NM_001111322:exon1:c.G7A:p.A3T,DDX54:NM_024072:exon1:c.G7A:p.A3T",D,N,N,T,N,T
chr12,113711453,113711453,C,T,R007_S,TPCN1,Silent,NM_001301214,exon9,c.C718T,p.L240L,SNP,SNVindel,exonic,TPCN1,NA,synonymous SNV,"TPCN1:NM_001301214:exon9:c.C718T:p.L240L,TPCN1:NM_001351347:exon9:c.C718T:p.L240L,TPCN1:NM_017901:exon10:c.C922T:p.L308L,TPCN1:NM_001143819:exon11:c.C1138T:p.L380L,TPCN1:NM_001351346:exon11:c.C718T:p.L240L",NA,NA,NA,NA,NA,NA
chr12,113901222,113901222,G,A,R007_S,LHX5,Missense_Mutation,NM_022363,exon5,c.C982T,p.P328S,SNP,SNVindel,exonic,LHX5,NA,nonsynonymous SNV,LHX5:NM_022363:exon5:c.C982T:p.P328S,T,N,N,D,N,T
chr12,113906058,113906058,G,A,R007_S,LHX5,Silent,NM_022363,exon3,c.C549T,p.P183P,SNP,SNVindel,exonic,LHX5,NA,synonymous SNV,LHX5:NM_022363:exon3:c.C549T:p.P183P,NA,NA,NA,NA,NA,NA
chr12,115112449,115112449,C,T,R007_S,TBX3,Missense_Mutation,NM_005996,exon6,c.G1231A,p.A411T,SNP,SNVindel,exonic,TBX3,NA,nonsynonymous SNV,"TBX3:NM_005996:exon6:c.G1231A:p.A411T,TBX3:NM_016569:exon7:c.G1291A:p.A431T",T,N,N,D,N,T
chr12,115114151,115114151,C,T,R007_S,TBX3,Missense_Mutation,NM_005996,exon5,c.G1006A,p.A336T,SNP,SNVindel,exonic,TBX3,NA,nonsynonymous SNV,"TBX3:NM_005996:exon5:c.G1006A:p.A336T,TBX3:NM_016569:exon6:c.G1066A:p.A356T",T,N,D,D,N,T
chr12,118476114,118476114,G,A,R007_S,WSB2,Silent,NM_001278558,exon3,c.C9T,p.C3C,SNP,SNVindel,exonic,WSB2,NA,synonymous SNV,"WSB2:NM_001278558:exon3:c.C9T:p.C3C,WSB2:NM_001278557:exon5:c.C690T:p.C230C,WSB2:NM_018639:exon5:c.C639T:p.C213C",NA,NA,NA,NA,NA,NA
chr12,118577309,118577309,G,A,R007_S,PEBP1,Missense_Mutation,NM_002567,exon3,c.G299A,p.G100D,SNP,SNVindel,exonic,PEBP1,NA,nonsynonymous SNV,PEBP1:NM_002567:exon3:c.G299A:p.G100D,D,D,D,T,D,T
chr12,119583199,119583199,G,A,R007_S,SRRM4,Missense_Mutation,NM_194286,exon9,c.G785A,p.G262E,SNP,SNVindel,exonic,SRRM4,NA,nonsynonymous SNV,SRRM4:NM_194286:exon9:c.G785A:p.G262E,D,D,D,T,N,T
chr12,119943016,119943016,C,T,R007_S,CCDC60,Missense_Mutation,NM_178499,exon7,c.C791T,p.P264L,SNP,SNVindel,exonic,CCDC60,NA,nonsynonymous SNV,CCDC60:NM_178499:exon7:c.C791T:p.P264L,D,N,N,T,D,T
chr12,120168320,120168320,C,T,R007_S,CIT,Missense_Mutation,NM_007174,exon26,c.G3340A,p.A1114T,SNP,SNVindel,exonic,CIT,NA,nonsynonymous SNV,"CIT:NM_007174:exon26:c.G3340A:p.A1114T,CIT:NM_001206999:exon27:c.G3466A:p.A1156T",T,D,D,T,N,T
chr12,120598015,120598015,G,A,R007_S,GCN1,Silent,NM_006836,exon23,c.C2481T,p.T827T,SNP,SNVindel,exonic,GCN1,NA,synonymous SNV,GCN1:NM_006836:exon23:c.C2481T:p.T827T,NA,NA,NA,NA,NA,NA
chr12,120602198,120602198,C,T,R007_S,GCN1,Missense_Mutation,NM_006836,exon18,c.G1790A,p.G597D,SNP,SNVindel,exonic,GCN1,NA,nonsynonymous SNV,GCN1:NM_006836:exon18:c.G1790A:p.G597D,D,D,D,T,N,T
chr12,120796839,120796839,C,T,R007_S,MSI1,Silent,NM_002442,exon7,c.G420A,p.L140L,SNP,SNVindel,exonic,MSI1,NA,synonymous SNV,MSI1:NM_002442:exon7:c.G420A:p.L140L,NA,NA,NA,NA,NA,NA
chr12,120802523,120802523,C,T,R007_S,MSI1,Silent,NM_002442,exon5,c.G303A,p.Q101Q,SNP,SNVindel,exonic,MSI1,NA,synonymous SNV,MSI1:NM_002442:exon5:c.G303A:p.Q101Q,NA,NA,NA,NA,NA,NA
chr12,121476712,121476712,C,T,R007_S,OASL,Silent,NM_001261825,exon1,c.G63A,p.Q21Q,SNP,SNVindel,exonic,OASL,NA,synonymous SNV,"OASL:NM_001261825:exon1:c.G63A:p.Q21Q,OASL:NM_003733:exon1:c.G63A:p.Q21Q,OASL:NM_198213:exon1:c.G63A:p.Q21Q",NA,NA,NA,NA,NA,NA
chr12,121880795,121880795,C,T,R007_S,KDM2B,Silent,NM_001005366,exon17,c.G2397A,p.K799K,SNP,SNVindel,exonic,KDM2B,NA,synonymous SNV,"KDM2B:NM_001005366:exon17:c.G2397A:p.K799K,KDM2B:NM_032590:exon18:c.G2604A:p.K868K",NA,NA,NA,NA,NA,NA
chr12,122218817,122218817,C,T,R007_S,RHOF,Silent,NM_019034,exon4,c.G432A,p.K144K,SNP,SNVindel,exonic,RHOF,NA,synonymous SNV,RHOF:NM_019034:exon4:c.G432A:p.K144K,NA,NA,NA,NA,NA,NA
chr12,122218900,122218900,C,T,R007_S,RHOF,Missense_Mutation,NM_019034,exon4,c.G349A,p.V117I,SNP,SNVindel,exonic,RHOF,NA,nonsynonymous SNV,RHOF:NM_019034:exon4:c.G349A:p.V117I,T,D,D,T,N,T
chr12,122409476,122409476,C,T,R007_S,WDR66,Silent,NM_001178003,exon18,c.C2784T,p.S928S,SNP,SNVindel,exonic,WDR66,NA,synonymous SNV,WDR66:NM_001178003:exon18:c.C2784T:p.S928S,NA,NA,NA,NA,NA,NA
chr12,122691166,122691166,C,T,R007_S,B3GNT4,Missense_Mutation,NM_001330492,exon2,c.C293T,p.A98V,SNP,SNVindel,exonic,B3GNT4,NA,nonsynonymous SNV,"B3GNT4:NM_001330492:exon2:c.C293T:p.A98V,B3GNT4:NM_030765:exon3:c.C368T:p.A123V",T,N,D,T,N,T
chr12,123187536,123187536,G,A,R007_S,HCAR2,Missense_Mutation,NM_177551,exon1,c.C295T,p.P99S,SNP,SNVindel,exonic,HCAR2,NA,nonsynonymous SNV,HCAR2:NM_177551:exon1:c.C295T:p.P99S,T,N,N,T,N,T
chr12,123214369,123214369,G,A,R007_S,HCAR1,Missense_Mutation,NM_032554,exon1,c.C518T,p.A173V,SNP,SNVindel,exonic,HCAR1,NA,nonsynonymous SNV,HCAR1:NM_032554:exon1:c.C518T:p.A173V,T,N,D,T,N,T
chr12,123342713,123342713,C,T,R007_S,HIP1R,Missense_Mutation,NM_003959,exon19,c.C1880T,p.A627V,SNP,SNVindel,exonic,HIP1R,NA,nonsynonymous SNV,HIP1R:NM_003959:exon19:c.C1880T:p.A627V,T,N,N,T,N,T
chr12,123498426,123498426,G,A,R007_S,PITPNM2,Missense_Mutation,NM_001300801,exon3,c.C242T,p.A81V,SNP,SNVindel,exonic,PITPNM2,NA,nonsynonymous SNV,"PITPNM2:NM_001300801:exon3:c.C242T:p.A81V,PITPNM2:NM_020845:exon3:c.C242T:p.A81V",D,D,D,T,N,D
chr12,123641434,123641434,C,T,R007_S,MPHOSPH9,Missense_Mutation,NM_022782,exon24,c.G3472A,p.E1158K,SNP,SNVindel,exonic,MPHOSPH9,NA,nonsynonymous SNV,MPHOSPH9:NM_022782:exon24:c.G3472A:p.E1158K,.,D,D,.,.,T
chr12,123706221,123706221,C,T,R007_S,MPHOSPH9,Silent,NM_022782,exon5,c.G570A,p.V190V,SNP,SNVindel,exonic,MPHOSPH9,NA,synonymous SNV,MPHOSPH9:NM_022782:exon5:c.G570A:p.V190V,NA,NA,NA,NA,NA,NA
chr12,124330666,124330666,C,T,R007_S,DNAH10,Missense_Mutation,NM_207437,exon31,c.C5425T,p.P1809S,SNP,SNVindel,exonic,DNAH10,NA,nonsynonymous SNV,DNAH10:NM_207437:exon31:c.C5425T:p.P1809S,D,U,D,T,D,T
chr12,124382325,124382325,C,T,R007_S,DNAH10,Missense_Mutation,NM_207437,exon54,c.C8935T,p.P2979S,SNP,SNVindel,exonic,DNAH10,NA,nonsynonymous SNV,DNAH10:NM_207437:exon54:c.C8935T:p.P2979S,T,N,N,T,N,T
chr12,125509588,125509588,C,T,R007_S,BRI3BP,Missense_Mutation,NM_080626,exon3,c.C368T,p.A123V,SNP,SNVindel,exonic,BRI3BP,NA,nonsynonymous SNV,BRI3BP:NM_080626:exon3:c.C368T:p.A123V,D,D,D,.,N,T
chr12,130921546,130921546,G,A,R007_S,RIMBP2,Silent,NM_015347,exon11,c.C1896T,p.G632G,SNP,SNVindel,exonic,RIMBP2,NA,synonymous SNV,"RIMBP2:NM_015347:exon11:c.C1896T:p.G632G,RIMBP2:NM_001351227:exon12:c.C1947T:p.G649G,RIMBP2:NM_001351226:exon13:c.C1947T:p.G649G,RIMBP2:NM_001351228:exon13:c.C1947T:p.G649G,RIMBP2:NM_001351229:exon13:c.C1947T:p.G649G,RIMBP2:NM_001351230:exon13:c.C1947T:p.G649G,RIMBP2:NM_001351231:exon13:c.C1947T:p.G649G,RIMBP2:NM_001351232:exon13:c.C1947T:p.G649G,RIMBP2:NM_001351233:exon14:c.C1620T:p.G540G",NA,NA,NA,NA,NA,NA
chr12,131593386,131593386,G,A,R007_S,ADGRD1,Missense_Mutation,NM_198827,exon18,c.G2005A,p.D669N,SNP,SNVindel,exonic,ADGRD1,NA,nonsynonymous SNV,"ADGRD1:NM_198827:exon18:c.G2005A:p.D669N,ADGRD1:NM_001330497:exon19:c.G2101A:p.D701N",T,N,D,T,N,T
chr12,132237736,132237736,C,T,R007_S,SFSWAP,Missense_Mutation,NM_001261411,exon8,c.C1150T,p.P384S,SNP,SNVindel,exonic,SFSWAP,NA,nonsynonymous SNV,"SFSWAP:NM_001261411:exon8:c.C1150T:p.P384S,SFSWAP:NM_004592:exon8:c.C1150T:p.P384S",D,D,D,T,D,T
chr12,132398369,132398369,C,T,R007_S,ULK1,Missense_Mutation,NM_003565,exon15,c.C1235T,p.P412L,SNP,SNVindel,exonic,ULK1,NA,nonsynonymous SNV,ULK1:NM_003565:exon15:c.C1235T:p.P412L,T,N,D,T,D,T
chr12,132510278,132510278,G,A,R007_S,EP400,Missense_Mutation,NM_015409,exon25,c.G4943A,p.G1648D,SNP,SNVindel,exonic,EP400,NA,nonsynonymous SNV,EP400:NM_015409:exon25:c.G4943A:p.G1648D,D,D,D,D,D,D
chr12,132514417,132514417,C,T,R007_S,EP400,Silent,NM_015409,exon28,c.C5553T,p.F1851F,SNP,SNVindel,exonic,EP400,NA,synonymous SNV,EP400:NM_015409:exon28:c.C5553T:p.F1851F,NA,NA,NA,NA,NA,NA
chr12,132522334,132522334,C,T,R007_S,EP400,Missense_Mutation,NM_015409,exon31,c.C6059T,p.T2020I,SNP,SNVindel,exonic,EP400,NA,nonsynonymous SNV,EP400:NM_015409:exon31:c.C6059T:p.T2020I,D,D,D,D,D,D
chr12,133254291,133254291,C,T,R007_S,POLE,Missense_Mutation,NM_006231,exon7,c.G593A,p.G198D,SNP,SNVindel,exonic,POLE,NA,nonsynonymous SNV,POLE:NM_006231:exon7:c.G593A:p.G198D,T,D,D,T,N,T
chr12,133319861,133319861,C,T,R007_S,ANKLE2,Missense_Mutation,NM_015114,exon6,c.G1232A,p.G411D,SNP,SNVindel,exonic,ANKLE2,NA,nonsynonymous SNV,ANKLE2:NM_015114:exon6:c.G1232A:p.G411D,T,D,D,T,D,T
chr12,133384681,133384681,G,A,R007_S,GOLGA3,Missense_Mutation,NM_001172557,exon5,c.C974T,p.T325I,SNP,SNVindel,exonic,GOLGA3,NA,nonsynonymous SNV,"GOLGA3:NM_001172557:exon5:c.C974T:p.T325I,GOLGA3:NM_005895:exon5:c.C974T:p.T325I",T,N,N,T,N,T
chr12,133779142,133779142,C,T,R007_S,ZNF268,Silent,NM_001165881,exon6,c.C870T,p.Y290Y,SNP,SNVindel,exonic,ZNF268,NA,synonymous SNV,"ZNF268:NM_001165881:exon6:c.C870T:p.Y290Y,ZNF268:NM_001165882:exon6:c.C621T:p.Y207Y,ZNF268:NM_003415:exon6:c.C870T:p.Y290Y",NA,NA,NA,NA,NA,NA
chr12,133803551,133803551,G,A,R007_S,ANHX,Missense_Mutation,NM_001191054,exon5,c.C689T,p.S230F,SNP,SNVindel,exonic,ANHX,NA,nonsynonymous SNV,ANHX:NM_001191054:exon5:c.C689T:p.S230F,D,.,N,D,N,T
chr12,133803558,133803558,C,T,R007_S,ANHX,Missense_Mutation,NM_001191054,exon5,c.G682A,p.V228I,SNP,SNVindel,exonic,ANHX,NA,nonsynonymous SNV,ANHX:NM_001191054:exon5:c.G682A:p.V228I,T,.,N,D,N,T
chr13,20567677,20567677,C,T,R007_S,ZMYM2,Silent,NM_001190965,exon3,c.C465T,p.F155F,SNP,SNVindel,exonic,ZMYM2,NA,synonymous SNV,"ZMYM2:NM_001190965:exon3:c.C465T:p.F155F,ZMYM2:NM_001353157:exon3:c.C465T:p.F155F,ZMYM2:NM_001353159:exon3:c.C465T:p.F155F,ZMYM2:NM_001353163:exon3:c.C465T:p.F155F,ZMYM2:NM_001353164:exon3:c.C465T:p.F155F,ZMYM2:NM_001353165:exon3:c.C465T:p.F155F,ZMYM2:NM_197968:exon3:c.C465T:p.F155F,ZMYM2:NM_001190964:exon4:c.C465T:p.F155F,ZMYM2:NM_001353161:exon4:c.C531T:p.F177F,ZMYM2:NM_003453:exon4:c.C465T:p.F155F,ZMYM2:NM_001353162:exon5:c.C465T:p.F155F",NA,NA,NA,NA,NA,NA
chr13,20978871,20978871,C,T,R007_S,CRYL1,Missense_Mutation,NM_001363647,exon6,c.G587A,p.S196N,SNP,SNVindel,exonic,CRYL1,NA,nonsynonymous SNV,"CRYL1:NM_001363647:exon6:c.G587A:p.S196N,CRYL1:NM_015974:exon7:c.G749A:p.S250N",T,N,D,D,N,T
chr13,21166543,21166543,G,A,R007_S,IFT88,Missense_Mutation,NM_001318491,exon6,c.G341A,p.S114N,SNP,SNVindel,exonic,IFT88,NA,nonsynonymous SNV,"IFT88:NM_001318491:exon6:c.G341A:p.S114N,IFT88:NM_001353573:exon6:c.G341A:p.S114N,IFT88:NM_001353574:exon6:c.G341A:p.S114N,IFT88:NM_001353575:exon6:c.G341A:p.S114N,IFT88:NM_001353571:exon7:c.G398A:p.S133N,IFT88:NM_001353572:exon7:c.G398A:p.S133N,IFT88:NM_001353578:exon7:c.G398A:p.S133N,IFT88:NM_006531:exon7:c.G398A:p.S133N,IFT88:NM_001318493:exon8:c.G425A:p.S142N,IFT88:NM_001353565:exon8:c.G425A:p.S142N,IFT88:NM_001353567:exon8:c.G425A:p.S142N,IFT88:NM_001353569:exon8:c.G425A:p.S142N,IFT88:NM_001353566:exon9:c.G425A:p.S142N,IFT88:NM_001353570:exon9:c.G425A:p.S142N,IFT88:NM_001353576:exon9:c.G425A:p.S142N,IFT88:NM_001353577:exon9:c.G425A:p.S142N,IFT88:NM_175605:exon9:c.G425A:p.S142N,IFT88:NM_001353568:exon10:c.G398A:p.S133N",T,D,D,T,N,T
chr13,21565418,21565418,G,A,R007_S,LATS2,Silent,NM_014572,exon3,c.C468T,p.T156T,SNP,SNVindel,exonic,LATS2,NA,synonymous SNV,LATS2:NM_014572:exon3:c.C468T:p.T156T,NA,NA,NA,NA,NA,NA
chr13,24876857,24876857,G,A,R007_S,SPATA13,Silent,NM_001286793,exon9,c.G1485A,p.R495R,SNP,SNVindel,exonic,SPATA13,NA,synonymous SNV,"SPATA13:NM_001286793:exon9:c.G1485A:p.R495R,SPATA13:NM_001286795:exon10:c.G1671A:p.R557R,SPATA13:NM_001286794:exon11:c.G1737A:p.R579R,SPATA13:NM_153023:exon12:c.G1905A:p.R635R,SPATA13:NM_001166271:exon13:c.G3780A:p.R1260R,SPATA13:NM_001286792:exon15:c.G3966A:p.R1322R",NA,NA,NA,NA,NA,NA
chr13,25283925,25283925,G,A,R007_S,ATP12A,Missense_Mutation,NM_001185085,exon19,c.G2740A,p.D914N,SNP,SNVindel,exonic,ATP12A,NA,nonsynonymous SNV,"ATP12A:NM_001185085:exon19:c.G2740A:p.D914N,ATP12A:NM_001676:exon19:c.G2722A:p.D908N",T,N,N,D,N,T
chr13,25473653,25473653,C,T,R007_S,CENPJ,Silent,NM_018451,exon9,c.G2895A,p.E965E,SNP,SNVindel,exonic,CENPJ,NA,synonymous SNV,CENPJ:NM_018451:exon9:c.G2895A:p.E965E,NA,NA,NA,NA,NA,NA
chr13,28367088,28367088,C,T,R007_S,GSX1,Silent,NM_145657,exon1,c.C261T,p.G87G,SNP,SNVindel,exonic,GSX1,NA,synonymous SNV,GSX1:NM_145657:exon1:c.C261T:p.G87G,NA,NA,NA,NA,NA,NA
chr13,28841472,28841472,G,A,R007_S,PAN3,Missense_Mutation,NM_175854,exon12,c.G1726A,p.E576K,SNP,SNVindel,exonic,PAN3,NA,nonsynonymous SNV,PAN3:NM_175854:exon12:c.G1726A:p.E576K,T,D,D,T,D,T
chr13,29286937,29286937,C,T,R007_S,SLC46A3,Missense_Mutation,NM_001135919,exon3,c.G940A,p.G314R,SNP,SNVindel,exonic,SLC46A3,NA,nonsynonymous SNV,"SLC46A3:NM_001135919:exon3:c.G940A:p.G314R,SLC46A3:NM_001347960:exon3:c.G940A:p.G314R,SLC46A3:NM_181785:exon3:c.G940A:p.G314R",D,D,D,T,D,D
chr13,30054342,30054342,G,A,R007_S,MTUS2,Silent,NM_015233,exon3,c.G177A,p.R59R,SNP,SNVindel,exonic,MTUS2,NA,synonymous SNV,"MTUS2:NM_015233:exon3:c.G177A:p.R59R,MTUS2:NM_001033602:exon8:c.G3240A:p.R1080R,MTUS2:NM_001366651:exon9:c.G3042A:p.R1014R,MTUS2:NM_001366650:exon10:c.G3237A:p.R1079R",NA,NA,NA,NA,NA,NA
chr13,31540424,31540424,G,A,R007_S,TEX26,Missense_Mutation,NM_001353390,exon3,c.G142A,p.D48N,SNP,SNVindel,exonic,TEX26,NA,nonsynonymous SNV,"TEX26:NM_001353390:exon3:c.G142A:p.D48N,TEX26:NM_001353388:exon4:c.G142A:p.D48N,TEX26:NM_001353389:exon4:c.G142A:p.D48N,TEX26:NM_001353391:exon4:c.G142A:p.D48N,TEX26:NM_152325:exon5:c.G535A:p.D179N",T,N,N,T,D,T
chr13,32768388,32768388,C,T,R007_S,FRY,Missense_Mutation,NM_023037,exon29,c.C3700T,p.L1234F,SNP,SNVindel,exonic,FRY,NA,nonsynonymous SNV,FRY:NM_023037:exon29:c.C3700T:p.L1234F,D,D,D,T,N,T
chr13,32811833,32811833,C,T,R007_S,FRY,Missense_Mutation,NM_023037,exon44,c.C6128T,p.T2043I,SNP,SNVindel,exonic,FRY,NA,nonsynonymous SNV,FRY:NM_023037:exon44:c.C6128T:p.T2043I,.,D,D,.,.,T
chr13,33017126,33017126,G,A,R007_S,N4BP2L2,Silent,NM_001278432,exon7,c.C1503T,p.D501D,SNP,SNVindel,exonic,N4BP2L2,NA,synonymous SNV,"N4BP2L2:NM_001278432:exon7:c.C1503T:p.D501D,N4BP2L2:NM_001320836:exon7:c.C2835T:p.D945D,N4BP2L2:NM_033111:exon7:c.C1548T:p.D516D",NA,NA,NA,NA,NA,NA
chr13,35782959,35782959,G,A,R007_S,NBEA,Missense_Mutation,NM_015678,exon32,c.G5489A,p.G1830E,SNP,SNVindel,exonic,NBEA,NA,nonsynonymous SNV,NBEA:NM_015678:exon32:c.G5489A:p.G1830E,T,D,D,T,N,T
chr13,38145563,38145563,C,T,R007_S,POSTN,Missense_Mutation,NM_001135935,exon17,c.G2041A,p.E681K,SNP,SNVindel,exonic,POSTN,NA,nonsynonymous SNV,"POSTN:NM_001135935:exon17:c.G2041A:p.E681K,POSTN:NM_001286665:exon17:c.G2041A:p.E681K,POSTN:NM_001330517:exon18:c.G2122A:p.E708K,POSTN:NM_006475:exon18:c.G2122A:p.E708K",T,N,D,D,N,T
chr13,39454541,39454541,C,T,R007_S,FREM2,Missense_Mutation,NM_207361,exon24,c.C9127T,p.P3043S,SNP,SNVindel,exonic,FREM2,NA,nonsynonymous SNV,FREM2:NM_207361:exon24:c.C9127T:p.P3043S,T,N,N,T,N,T
chr13,41768287,41768287,C,T,R007_S,KBTBD7,Missense_Mutation,NM_032138,exon1,c.G107A,p.G36D,SNP,SNVindel,exonic,KBTBD7,NA,nonsynonymous SNV,KBTBD7:NM_032138:exon1:c.G107A:p.G36D,T,U,D,T,N,T
chr13,42729831,42729831,C,T,R007_S,DGKH,Nonsense_Mutation,NM_001297429,exon3,c.C16T,p.Q6X,SNP,SNVindel,exonic,DGKH,NA,stopgain,DGKH:NM_001297429:exon3:c.C16T:p.Q6X,D,D,A,T,D,T
chr13,42795438,42795438,G,A,R007_S,DGKH,Missense_Mutation,NM_001204505,exon27,c.G3073A,p.D1025N,SNP,SNVindel,exonic,DGKH,NA,nonsynonymous SNV,"DGKH:NM_001204505:exon27:c.G3073A:p.D1025N,DGKH:NM_001204506:exon27:c.G3073A:p.D1025N,DGKH:NM_178009:exon29:c.G3481A:p.D1161N",D,D,D,D,N,D
chr13,42875178,42875178,G,A,R007_S,AKAP11,Missense_Mutation,NM_016248,exon8,c.G2296A,p.V766M,SNP,SNVindel,exonic,AKAP11,NA,nonsynonymous SNV,AKAP11:NM_016248:exon8:c.G2296A:p.V766M,D,D,D,T,N,T
chr13,46721144,46721144,C,T,R007_S,LCP1,Missense_Mutation,NM_002298,exon10,c.G1073A,p.G358E,SNP,SNVindel,exonic,LCP1,NA,nonsynonymous SNV,LCP1:NM_002298:exon10:c.G1073A:p.G358E,D,D,D,D,D,D
chr13,50050680,50050680,C,T,R007_S,SETDB2,Missense_Mutation,NM_001160308,exon6,c.C374T,p.S125F,SNP,SNVindel,exonic,SETDB2;SETDB2-PHF11,NA,nonsynonymous SNV,"SETDB2:NM_001160308:exon6:c.C374T:p.S125F,SETDB2:NM_001320699:exon6:c.C374T:p.S125F,SETDB2-PHF11:NM_001320727:exon6:c.C374T:p.S125F,SETDB2:NM_031915:exon7:c.C410T:p.S137F",T,N,N,T,N,T
chr13,50587040,50587040,C,A,R007_S,TRIM13,Missense_Mutation,NM_213590,exon2,c.C964A,p.L322I,SNP,SNVindel,exonic,TRIM13,NA,nonsynonymous SNV,"TRIM13:NM_213590:exon2:c.C964A:p.L322I,TRIM13:NM_005798:exon3:c.C964A:p.L322I,TRIM13:NM_052811:exon3:c.C964A:p.L322I,TRIM13:NM_001007278:exon4:c.C973A:p.L325I",T,N,N,T,N,T
chr13,61987024,61987024,G,A,R007_S,PCDH20,Missense_Mutation,NM_022843,exon2,c.C1208T,p.P403L,SNP,SNVindel,exonic,PCDH20,NA,nonsynonymous SNV,PCDH20:NM_022843:exon2:c.C1208T:p.P403L,T,D,D,T,D,T
chr13,67799812,67799812,C,T,R007_S,PCDH9,Missense_Mutation,NM_001318372,exon2,c.G2761A,p.G921S,SNP,SNVindel,exonic,PCDH9,NA,nonsynonymous SNV,"PCDH9:NM_001318372:exon2:c.G2761A:p.G921S,PCDH9:NM_001318373:exon2:c.G2761A:p.G921S,PCDH9:NM_001318374:exon2:c.G2761A:p.G921S,PCDH9:NM_020403:exon2:c.G2761A:p.G921S,PCDH9:NM_203487:exon2:c.G2761A:p.G921S",T,D,D,T,N,T
chr13,72255998,72255998,G,A,R007_S,DACH1,Missense_Mutation,NM_001366712,exon3,c.C893T,p.S298F,SNP,SNVindel,exonic,DACH1,NA,nonsynonymous SNV,"DACH1:NM_001366712:exon3:c.C893T:p.S298F,DACH1:NM_004392:exon3:c.C893T:p.S298F,DACH1:NM_080759:exon3:c.C893T:p.S298F,DACH1:NM_080760:exon3:c.C893T:p.S298F",.,D,D,.,.,T
chr13,73320134,73320134,G,A,R007_S,BORA,Missense_Mutation,NM_001366664,exon7,c.G638A,p.G213E,SNP,SNVindel,exonic,BORA,NA,nonsynonymous SNV,"BORA:NM_001366664:exon7:c.G638A:p.G213E,BORA:NM_001286747:exon8:c.G581A:p.G194E,BORA:NM_001286746:exon9:c.G791A:p.G264E,BORA:NM_024808:exon9:c.G791A:p.G264E",D,D,D,T,D,T
chr13,76055796,76055796,G,A,R007_S,TBC1D4,Silent,NM_001286658,exon1,c.C108T,p.F36F,SNP,SNVindel,exonic,TBC1D4,NA,synonymous SNV,"TBC1D4:NM_001286658:exon1:c.C108T:p.F36F,TBC1D4:NM_001286659:exon1:c.C108T:p.F36F,TBC1D4:NM_014832:exon1:c.C108T:p.F36F",NA,NA,NA,NA,NA,NA
chr13,76447834,76447834,G,A,R007_S,LMO7DN,Nonsense_Mutation,NM_001257995,exon2,c.G159A,p.W53X,SNP,SNVindel,exonic,LMO7DN,NA,stopgain,LMO7DN:NM_001257995:exon2:c.G159A:p.W53X,.,.,A,.,.,.
chr13,77768354,77768354,C,T,R007_S,MYCBP2,Missense_Mutation,NM_015057,exon27,c.G3869A,p.G1290E,SNP,SNVindel,exonic,MYCBP2,NA,nonsynonymous SNV,MYCBP2:NM_015057:exon27:c.G3869A:p.G1290E,D,D,D,T,D,T
chr13,77817983,77817983,G,A,R007_S,MYCBP2,Missense_Mutation,NM_015057,exon16,c.C2485T,p.L829F,SNP,SNVindel,exonic,MYCBP2,NA,nonsynonymous SNV,MYCBP2:NM_015057:exon16:c.C2485T:p.L829F,T,D,D,T,N,T
chr13,77831943,77831943,C,T,R007_S,MYCBP2,Missense_Mutation,NM_015057,exon14,c.G2039A,p.G680D,SNP,SNVindel,exonic,MYCBP2,NA,nonsynonymous SNV,MYCBP2:NM_015057:exon14:c.G2039A:p.G680D,T,D,D,D,N,T
chr13,78182231,78182231,G,A,R007_S,SCEL,Missense_Mutation,NM_001160706,exon18,c.G1072A,p.V358I,SNP,SNVindel,exonic,SCEL,NA,nonsynonymous SNV,"SCEL:NM_001160706:exon18:c.G1072A:p.V358I,SCEL:NM_003843:exon19:c.G1138A:p.V380I,SCEL:NM_144777:exon20:c.G1198A:p.V400I",D,N,N,T,N,T
chr13,78474739,78474739,G,A,R007_S,EDNRB,Silent,NM_001122659,exon5,c.C1002T,p.L334L,SNP,SNVindel,exonic,EDNRB,NA,synonymous SNV,"EDNRB:NM_001122659:exon5:c.C1002T:p.L334L,EDNRB:NM_003991:exon5:c.C1002T:p.L334L,EDNRB:NM_000115:exon6:c.C1002T:p.L334L,EDNRB:NM_001201397:exon6:c.C1272T:p.L424L",NA,NA,NA,NA,NA,NA
chr13,79176667,79176667,G,A,R007_S,POU4F1,Missense_Mutation,NM_006237,exon2,c.C143T,p.A48V,SNP,SNVindel,exonic,POU4F1,NA,nonsynonymous SNV,POU4F1:NM_006237:exon2:c.C143T:p.A48V,D,U,D,T,D,T
chr13,88327819,88327819,G,A,R007_S,SLITRK5,Missense_Mutation,NM_015567,exon2,c.G176A,p.G59D,SNP,SNVindel,exonic,SLITRK5,NA,nonsynonymous SNV,SLITRK5:NM_015567:exon2:c.G176A:p.G59D,D,N,D,T,D,T
chr13,95861717,95861717,G,A,R007_S,ABCC4,Silent,NM_001301830,exon5,c.C531T,p.S177S,SNP,SNVindel,exonic,ABCC4,NA,synonymous SNV,"ABCC4:NM_001301830:exon5:c.C531T:p.S177S,ABCC4:NM_001105515:exon6:c.C756T:p.S252S,ABCC4:NM_001301829:exon6:c.C756T:p.S252S,ABCC4:NM_005845:exon6:c.C756T:p.S252S",NA,NA,NA,NA,NA,NA
chr13,96274632,96274632,C,T,R007_S,DZIP1,Missense_Mutation,NM_014934,exon9,c.G1075A,p.D359N,SNP,SNVindel,exonic,DZIP1,NA,nonsynonymous SNV,"DZIP1:NM_014934:exon9:c.G1075A:p.D359N,DZIP1:NM_198968:exon9:c.G1075A:p.D359N",T,N,D,T,N,T
chr13,98667841,98667841,G,A,R007_S,IPO5,Missense_Mutation,NM_002271,exon23,c.G2383A,p.G795S,SNP,SNVindel,exonic,IPO5,NA,nonsynonymous SNV,IPO5:NM_002271:exon23:c.G2383A:p.G795S,T,N,D,T,N,T
chr13,99481909,99481909,G,A,R007_S,DOCK9,Silent,NM_001366677,exon42,c.C4680T,p.D1560D,SNP,SNVindel,exonic,DOCK9,NA,synonymous SNV,"DOCK9:NM_001366677:exon42:c.C4680T:p.D1560D,DOCK9:NM_001366679:exon42:c.C4644T:p.D1548D,DOCK9:NM_001366680:exon42:c.C4644T:p.D1548D,DOCK9:NM_001366681:exon42:c.C4737T:p.D1579D,DOCK9:NM_001366682:exon42:c.C4737T:p.D1579D,DOCK9:NM_001366683:exon42:c.C4737T:p.D1579D,DOCK9:NM_001366684:exon42:c.C4737T:p.D1579D",NA,NA,NA,NA,NA,NA
chr13,99550439,99550439,G,T,R007_S,DOCK9,Missense_Mutation,NM_001130049,exon14,c.C1583A,p.A528E,SNP,SNVindel,exonic,DOCK9,NA,nonsynonymous SNV,"DOCK9:NM_001130049:exon14:c.C1583A:p.A528E,DOCK9:NM_001130050:exon14:c.C1580A:p.A527E,DOCK9:NM_001366677:exon14:c.C1616A:p.A539E,DOCK9:NM_001366679:exon14:c.C1580A:p.A527E,DOCK9:NM_001366680:exon14:c.C1580A:p.A527E,DOCK9:NM_001366681:exon14:c.C1580A:p.A527E,DOCK9:NM_001366682:exon14:c.C1580A:p.A527E,DOCK9:NM_001366683:exon14:c.C1580A:p.A527E,DOCK9:NM_001366684:exon14:c.C1580A:p.A527E",D,D,D,T,D,T
chr13,100172325,100172325,C,T,R007_S,TM9SF2,Missense_Mutation,NM_004800,exon3,c.C275T,p.P92L,SNP,SNVindel,exonic,TM9SF2,NA,nonsynonymous SNV,TM9SF2:NM_004800:exon3:c.C275T:p.P92L,D,D,D,T,D,T
chr13,101320915,101320915,C,T,R007_S,TMTC4,Missense_Mutation,NM_001079669,exon2,c.G80A,p.G27E,SNP,SNVindel,exonic,TMTC4,NA,nonsynonymous SNV,"TMTC4:NM_001079669:exon2:c.G80A:p.G27E,TMTC4:NM_001286453:exon2:c.G80A:p.G27E,TMTC4:NM_001350574:exon2:c.G80A:p.G27E,TMTC4:NM_001350577:exon2:c.G80A:p.G27E,TMTC4:NM_001350571:exon3:c.G137A:p.G46E,TMTC4:NM_001350572:exon3:c.G80A:p.G27E,TMTC4:NM_001350576:exon3:c.G137A:p.G46E,TMTC4:NM_032813:exon3:c.G137A:p.G46E",T,D,D,T,N,T
chr13,101742056,101742056,G,A,R007_S,NALCN,Silent,NM_001350750,exon29,c.C3360T,p.T1120T,SNP,SNVindel,exonic,NALCN,NA,synonymous SNV,"NALCN:NM_001350750:exon29:c.C3360T:p.T1120T,NALCN:NM_001350751:exon29:c.C3360T:p.T1120T,NALCN:NM_001350749:exon30:c.C3447T:p.T1149T,NALCN:NM_052867:exon30:c.C3447T:p.T1149T,NALCN:NM_001350748:exon31:c.C3534T:p.T1178T",NA,NA,NA,NA,NA,NA
chr13,103275295,103275295,C,T,R007_S,TPP2,Missense_Mutation,NM_001330588,exon6,c.C689T,p.A230V,SNP,SNVindel,exonic,TPP2,NA,nonsynonymous SNV,"TPP2:NM_001330588:exon6:c.C689T:p.A230V,TPP2:NM_001367947:exon6:c.C689T:p.A230V,TPP2:NM_003291:exon6:c.C689T:p.A230V",D,D,D,D,N,T
chr13,103389905,103389905,C,T,R007_S,CCDC168,Missense_Mutation,NM_001146197,exon4,c.G13142A,p.G4381E,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.G13142A:p.G4381E,.,.,.,.,.,.
chr13,103390808,103390808,G,A,R007_S,CCDC168,Missense_Mutation,NM_001146197,exon4,c.C12239T,p.P4080L,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.C12239T:p.P4080L,.,.,.,.,.,.
chr13,103393148,103393148,G,A,R007_S,CCDC168,Missense_Mutation,NM_001146197,exon4,c.C9899T,p.S3300L,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.C9899T:p.S3300L,.,.,.,.,.,.
chr13,103398263,103398263,C,T,R007_S,CCDC168,Missense_Mutation,NM_001146197,exon4,c.G4784A,p.S1595N,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.G4784A:p.S1595N,.,.,.,.,.,.
chr13,103419709,103419709,G,A,R007_S,TEX30,Nonsense_Mutation,NM_001286776,exon4,c.C295T,p.Q99X,SNP,SNVindel,exonic,TEX30,NA,stopgain,"TEX30:NM_001286776:exon4:c.C295T:p.Q99X,TEX30:NM_138779:exon5:c.C418T:p.Q140X",.,N,A,.,.,.
chr13,108518823,108518823,G,A,R007_S,FAM155A,Missense_Mutation,NM_001080396,exon1,c.C122T,p.S41F,SNP,SNVindel,exonic,FAM155A,NA,nonsynonymous SNV,FAM155A:NM_001080396:exon1:c.C122T:p.S41F,D,D,D,.,D,T
chr13,108861677,108861677,G,A,R007_S,LIG4,Missense_Mutation,NM_001098268,exon2,c.C1940T,p.P647L,SNP,SNVindel,exonic,LIG4,NA,nonsynonymous SNV,"LIG4:NM_001098268:exon2:c.C1940T:p.P647L,LIG4:NM_002312:exon2:c.C1940T:p.P647L,LIG4:NM_001330595:exon3:c.C1739T:p.P580L,LIG4:NM_001352601:exon3:c.C1940T:p.P647L,LIG4:NM_001352602:exon3:c.C1940T:p.P647L,LIG4:NM_001352603:exon3:c.C1940T:p.P647L,LIG4:NM_001352604:exon3:c.C1976T:p.P659L,LIG4:NM_206937:exon3:c.C1940T:p.P647L,LIG4:NM_001352598:exon4:c.C1940T:p.P647L,LIG4:NM_001352599:exon4:c.C1940T:p.P647L,LIG4:NM_001352600:exon4:c.C1940T:p.P647L",D,D,D,T,N,T
chr13,109475479,109475479,C,T,R007_S,MYO16,Missense_Mutation,NM_001198950,exon9,c.C950T,p.A317V,SNP,SNVindel,exonic,MYO16,NA,nonsynonymous SNV,"MYO16:NM_001198950:exon9:c.C950T:p.A317V,MYO16:NM_015011:exon9:c.C884T:p.A295V",D,U,D,T,N,D
chr13,109777477,109777477,G,A,R007_S,MYO16,Missense_Mutation,NM_001198950,exon30,c.G3553A,p.A1185T,SNP,SNVindel,exonic,MYO16,NA,nonsynonymous SNV,"MYO16:NM_001198950:exon30:c.G3553A:p.A1185T,MYO16:NM_015011:exon30:c.G3487A:p.A1163T",T,U,D,D,D,D
chr13,109793043,109793043,G,A,R007_S,MYO16,Missense_Mutation,NM_001198950,exon32,c.G4483A,p.G1495R,SNP,SNVindel,exonic,MYO16,NA,nonsynonymous SNV,"MYO16:NM_001198950:exon32:c.G4483A:p.G1495R,MYO16:NM_015011:exon32:c.G4417A:p.G1473R",T,N,N,T,N,T
chr13,110813559,110813559,G,A,R007_S,COL4A1,Silent,NM_001845,exon49,c.C4620T,p.N1540N,SNP,SNVindel,exonic,COL4A1,NA,synonymous SNV,COL4A1:NM_001845:exon49:c.C4620T:p.N1540N,NA,NA,NA,NA,NA,NA
chr13,111160469,111160469,G,A,R007_S,COL4A2,Silent,NM_001846,exon47,c.G4782A,p.E1594E,SNP,SNVindel,exonic,COL4A2,NA,synonymous SNV,COL4A2:NM_001846:exon47:c.G4782A:p.E1594E,NA,NA,NA,NA,NA,NA
chr13,113536262,113536262,G,A,R007_S,ATP11A,Missense_Mutation,NM_032189,exon29,c.G3460A,p.A1154T,SNP,SNVindel,exonic,ATP11A,NA,nonsynonymous SNV,ATP11A:NM_032189:exon29:c.G3460A:p.A1154T,T,N,N,T,N,T
chr13,113739287,113739287,C,T,R007_S,MCF2L,Missense_Mutation,NM_001366645,exon17,c.C2029T,p.P677S,SNP,SNVindel,exonic,MCF2L,NA,nonsynonymous SNV,"MCF2L:NM_001366645:exon17:c.C2029T:p.P677S,MCF2L:NM_001366646:exon17:c.C2029T:p.P677S,MCF2L:NM_001112732:exon19:c.C2143T:p.P715S,MCF2L:NM_001320815:exon19:c.C2137T:p.P713S,MCF2L:NM_001320816:exon19:c.C2155T:p.P719S,MCF2L:NM_001320817:exon19:c.C2137T:p.P713S,MCF2L:NM_001366644:exon19:c.C2056T:p.P686S,MCF2L:NM_024979:exon19:c.C2137T:p.P713S",T,D,D,T,N,T
chr13,114294482,114294482,G,A,R007_S,TFDP1,Missense_Mutation,NM_007111,exon12,c.G1133A,p.G378E,SNP,SNVindel,exonic,TFDP1,NA,nonsynonymous SNV,TFDP1:NM_007111:exon12:c.G1133A:p.G378E,T,D,D,T,N,T
chr13,114307252,114307252,C,T,R007_S,ATP4B,Missense_Mutation,NM_000705,exon4,c.G491A,p.G164D,SNP,SNVindel,exonic,ATP4B,NA,nonsynonymous SNV,ATP4B:NM_000705:exon4:c.G491A:p.G164D,D,D,D,T,D,T
chr13,115030667,115030667,C,T,R007_S,CDC16,Missense_Mutation,NM_001318518,exon16,c.C1399T,p.L467F,SNP,SNVindel,exonic,CDC16,NA,nonsynonymous SNV,"CDC16:NM_001318518:exon16:c.C1399T:p.L467F,CDC16:NM_001330104:exon16:c.C1273T:p.L425F,CDC16:NM_001330105:exon16:c.C1273T:p.L425F,CDC16:NM_001078645:exon17:c.C1555T:p.L519F,CDC16:NM_001318517:exon17:c.C1552T:p.L518F,CDC16:NM_001330101:exon17:c.C1552T:p.L518F,CDC16:NM_003903:exon17:c.C1555T:p.L519F",D,D,D,D,D,D
chr13,115047174,115047174,G,A,R007_S,UPF3A,Silent,NM_001353651,exon1,c.G60A,p.P20P,SNP,SNVindel,exonic,UPF3A,NA,synonymous SNV,"UPF3A:NM_001353651:exon1:c.G60A:p.P20P,UPF3A:NM_001353652:exon1:c.G60A:p.P20P,UPF3A:NM_023011:exon1:c.G60A:p.P20P,UPF3A:NM_080687:exon1:c.G60A:p.P20P",NA,NA,NA,NA,NA,NA
chr14,20248725,20248725,C,T,R007_S,OR4M1,Missense_Mutation,NM_001005500,exon1,c.C244T,p.L82F,SNP,SNVindel,exonic,OR4M1,NA,nonsynonymous SNV,OR4M1:NM_001005500:exon1:c.C244T:p.L82F,D,D,N,T,D,T
chr14,20852562,20852562,C,T,R007_S,TEP1,Silent,NM_001319035,exon21,c.G3003A,p.K1001K,SNP,SNVindel,exonic,TEP1,NA,synonymous SNV,"TEP1:NM_001319035:exon21:c.G3003A:p.K1001K,TEP1:NM_007110:exon23:c.G3327A:p.K1109K",NA,NA,NA,NA,NA,NA
chr14,20979079,20979079,C,T,R007_S,RNASE10,Missense_Mutation,NM_001012975,exon1,c.C449T,p.A150V,SNP,SNVindel,exonic,RNASE10,NA,nonsynonymous SNV,RNASE10:NM_001012975:exon1:c.C449T:p.A150V,D,D,D,T,D,D
chr14,21836575,21836575,C,T,R007_S,SUPT16H,Missense_Mutation,NM_007192,exon7,c.G808A,p.A270T,SNP,SNVindel,exonic,SUPT16H,NA,nonsynonymous SNV,SUPT16H:NM_007192:exon7:c.G808A:p.A270T,T,D,D,T,N,T
chr14,21868340,21868340,T,C,R007_S,CHD8,Missense_Mutation,NM_001170629,exon24,c.A4697G,p.Y1566C,SNP,SNVindel,exonic,CHD8,NA,nonsynonymous SNV,"CHD8:NM_001170629:exon24:c.A4697G:p.Y1566C,CHD8:NM_020920:exon24:c.A3860G:p.Y1287C",D,D,D,D,D,D
chr14,21868358,21868358,A,C,R007_S,CHD8,Missense_Mutation,NM_001170629,exon24,c.T4679G,p.L1560W,SNP,SNVindel,exonic,CHD8,NA,nonsynonymous SNV,"CHD8:NM_001170629:exon24:c.T4679G:p.L1560W,CHD8:NM_020920:exon24:c.T3842G:p.L1281W",D,D,D,D,D,D
chr14,21957391,21957391,G,A,R007_S,TOX4,Silent,NM_001303523,exon4,c.G570A,p.K190K,SNP,SNVindel,exonic,TOX4,NA,synonymous SNV,"TOX4:NM_001303523:exon4:c.G570A:p.K190K,TOX4:NM_014828:exon5:c.G639A:p.K213K",NA,NA,NA,NA,NA,NA
chr14,21960989,21960989,C,T,R007_S,TOX4,Missense_Mutation,NM_001303523,exon6,c.C1145T,p.T382I,SNP,SNVindel,exonic,TOX4,NA,nonsynonymous SNV,"TOX4:NM_001303523:exon6:c.C1145T:p.T382I,TOX4:NM_014828:exon7:c.C1214T:p.T405I",.,N,N,.,.,T
chr14,21971442,21971442,G,A,R007_S,METTL3,Silent,NM_019852,exon3,c.C597T,p.N199N,SNP,SNVindel,exonic,METTL3,NA,synonymous SNV,METTL3:NM_019852:exon3:c.C597T:p.N199N,NA,NA,NA,NA,NA,NA
chr14,21992738,21992738,C,T,R007_S,SALL2,Missense_Mutation,NM_001364564,exon2,c.G1118A,p.C373Y,SNP,SNVindel,exonic,SALL2,NA,nonsynonymous SNV,"SALL2:NM_001364564:exon2:c.G1118A:p.C373Y,SALL2:NM_005407:exon2:c.G1124A:p.C375Y,SALL2:NM_001291446:exon3:c.G719A:p.C240Y,SALL2:NM_001291447:exon3:c.G713A:p.C238Y",D,D,D,D,D,D
chr14,23397744,23397744,C,T,R007_S,PRMT5,Missense_Mutation,NM_001039619,exon2,c.G140A,p.G47D,SNP,SNVindel,exonic,PRMT5,NA,nonsynonymous SNV,"PRMT5:NM_001039619:exon2:c.G140A:p.G47D,PRMT5:NM_001282953:exon2:c.G140A:p.G47D,PRMT5:NM_001282955:exon2:c.G191A:p.G64D,PRMT5:NM_001282956:exon2:c.G140A:p.G47D,PRMT5:NM_006109:exon2:c.G191A:p.G64D",T,D,D,.,N,T
chr14,23892758,23892758,C,T,R007_S,MYH7,Missense_Mutation,NM_000257,exon24,c.G3097A,p.D1033N,SNP,SNVindel,exonic,MYH7,NA,nonsynonymous SNV,MYH7:NM_000257:exon24:c.G3097A:p.D1033N,D,.,D,D,D,D
chr14,23900978,23900978,G,A,R007_S,MYH7,Missense_Mutation,NM_000257,exon7,c.C631T,p.P211S,SNP,SNVindel,exonic,MYH7,NA,nonsynonymous SNV,MYH7:NM_000257:exon7:c.C631T:p.P211S,T,.,N,D,N,T
chr14,24002184,24002184,C,T,R007_S,ZFHX2,Silent,NM_033400,exon3,c.G2151A,p.K717K,SNP,SNVindel,exonic,ZFHX2,NA,synonymous SNV,ZFHX2:NM_033400:exon3:c.G2151A:p.K717K,NA,NA,NA,NA,NA,NA
chr14,24543999,24543999,C,T,R007_S,CPNE6,Missense_Mutation,NM_006032,exon7,c.C667T,p.L223F,SNP,SNVindel,exonic,CPNE6,NA,nonsynonymous SNV,"CPNE6:NM_006032:exon7:c.C667T:p.L223F,CPNE6:NM_001280558:exon8:c.C832T:p.L278F",D,D,D,T,D,T
chr14,24550579,24550579,G,A,R007_S,NRL,Silent,NM_001354768,exon3,c.C580T,p.L194L,SNP,SNVindel,exonic,NRL,NA,synonymous SNV,"NRL:NM_001354768:exon3:c.C580T:p.L194L,NRL:NM_001354770:exon3:c.C265T:p.L89L,NRL:NM_001354769:exon4:c.C580T:p.L194L,NRL:NM_006177:exon4:c.C580T:p.L194L",NA,NA,NA,NA,NA,NA
chr14,24592211,24592211,G,A,R007_S,DCAF11,Silent,NM_001163484,exon14,c.G1431A,p.K477K,SNP,SNVindel,exonic,DCAF11,NA,synonymous SNV,"DCAF11:NM_001163484:exon14:c.G1431A:p.K477K,DCAF11:NM_025230:exon14:c.G1431A:p.K477K,DCAF11:NM_181357:exon14:c.G1353A:p.K451K",NA,NA,NA,NA,NA,NA
chr14,24619587,24619587,C,T,R007_S,RNF31,Missense_Mutation,NM_001310332,exon7,c.C674T,p.P225L,SNP,SNVindel,exonic,RNF31,NA,nonsynonymous SNV,"RNF31:NM_001310332:exon7:c.C674T:p.P225L,RNF31:NM_017999:exon7:c.C1127T:p.P376L",D,D,D,T,D,T
chr14,24679659,24679659,C,T,R007_S,CHMP4A,Missense_Mutation,NM_014169,exon5,c.G505A,p.E169K,SNP,SNVindel,exonic,CHMP4A,NA,nonsynonymous SNV,CHMP4A:NM_014169:exon5:c.G505A:p.E169K,D,N,D,T,N,D
chr14,24709981,24709981,C,T,R007_S,TINF2,Silent,NM_001363668,exon5,c.G600A,p.K200K,SNP,SNVindel,exonic,TINF2,NA,synonymous SNV,"TINF2:NM_001363668:exon5:c.G600A:p.K200K,TINF2:NM_001099274:exon6:c.G705A:p.K235K,TINF2:NM_012461:exon6:c.G705A:p.K235K",NA,NA,NA,NA,NA,NA
chr14,24731332,24731332,C,T,R007_S,TGM1,Missense_Mutation,NM_000359,exon2,c.G227A,p.G76D,SNP,SNVindel,exonic,TGM1,NA,nonsynonymous SNV,TGM1:NM_000359:exon2:c.G227A:p.G76D,T,U,N,T,N,T
chr14,24737391,24737391,C,T,R007_S,RABGGTA,Missense_Mutation,NM_004581,exon11,c.G1072A,p.V358M,SNP,SNVindel,exonic,RABGGTA,NA,nonsynonymous SNV,"RABGGTA:NM_004581:exon11:c.G1072A:p.V358M,RABGGTA:NM_182836:exon12:c.G1072A:p.V358M",T,N,D,T,N,T
chr14,24773343,24773343,C,T,R007_S,NOP9,Missense_Mutation,NM_001286367,exon8,c.C1507T,p.L503F,SNP,SNVindel,exonic,NOP9,NA,nonsynonymous SNV,"NOP9:NM_001286367:exon8:c.C1507T:p.L503F,NOP9:NM_174913:exon8:c.C1507T:p.L503F",D,D,D,T,N,T
chr14,24780682,24780682,C,T,R007_S,LTB4R2,Missense_Mutation,NM_001164692,exon2,c.C812T,p.A271V,SNP,SNVindel,exonic,LTB4R2,NA,nonsynonymous SNV,"LTB4R2:NM_001164692:exon2:c.C812T:p.A271V,LTB4R2:NM_019839:exon2:c.C812T:p.A271V",T,U,N,T,N,T
chr14,24885133,24885133,G,A,R007_S,NYNRIN,Missense_Mutation,NM_025081,exon9,c.G4178A,p.R1393K,SNP,SNVindel,exonic,NYNRIN,NA,nonsynonymous SNV,NYNRIN:NM_025081:exon9:c.G4178A:p.R1393K,T,.,N,T,N,T
chr14,27066610,27066610,C,T,R007_S,NOVA1,Silent,NM_001366392,exon1,c.G33A,p.G11G,SNP,SNVindel,exonic,NOVA1,NA,synonymous SNV,"NOVA1:NM_001366392:exon1:c.G33A:p.G11G,NOVA1:NM_002515:exon1:c.G33A:p.G11G,NOVA1:NM_006489:exon1:c.G33A:p.G11G,NOVA1:NM_006491:exon1:c.G33A:p.G11G",NA,NA,NA,NA,NA,NA
chr14,30396576,30396576,C,A,R007_S,PRKD1,Missense_Mutation,NM_001330069,exon1,c.G143T,p.G48V,SNP,SNVindel,exonic,PRKD1,NA,nonsynonymous SNV,"PRKD1:NM_001330069:exon1:c.G143T:p.G48V,PRKD1:NM_002742:exon1:c.G143T:p.G48V",T,U,D,T,N,T
chr14,31638658,31638658,C,T,R007_S,HECTD1,Missense_Mutation,NM_015382,exon9,c.G1349A,p.G450D,SNP,SNVindel,exonic,HECTD1,NA,nonsynonymous SNV,HECTD1:NM_015382:exon9:c.G1349A:p.G450D,D,D,D,T,D,T
chr14,31817097,31817097,C,T,R007_S,HEATR5A,Missense_Mutation,NM_015473,exon19,c.G2725A,p.D909N,SNP,SNVindel,exonic,HEATR5A,NA,nonsynonymous SNV,HEATR5A:NM_015473:exon19:c.G2725A:p.D909N,D,D,D,T,D,T
chr14,31828213,31828213,C,T,R007_S,HEATR5A,Missense_Mutation,NM_015473,exon15,c.G2122A,p.D708N,SNP,SNVindel,exonic,HEATR5A,NA,nonsynonymous SNV,HEATR5A:NM_015473:exon15:c.G2122A:p.D708N,D,D,D,T,D,T
chr14,31952579,31952579,C,T,R007_S,GPR33,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,GPR33,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr14,32315791,32315791,G,A,R007_S,NUBPL,Missense_Mutation,NM_001201574,exon4,c.G259A,p.V87I,SNP,SNVindel,exonic,NUBPL,NA,nonsynonymous SNV,"NUBPL:NM_001201574:exon4:c.G259A:p.V87I,NUBPL:NM_001201573:exon7:c.G520A:p.V174I,NUBPL:NM_025152:exon9:c.G808A:p.V270I",T,N,N,T,N,T
chr14,33408557,33408557,C,T,R007_S,NPAS3,Missense_Mutation,NM_001164749,exon1,c.C35T,p.P12L,SNP,SNVindel,exonic,NPAS3,NA,nonsynonymous SNV,"NPAS3:NM_001164749:exon1:c.C35T:p.P12L,NPAS3:NM_001165893:exon1:c.C35T:p.P12L,NPAS3:NM_022123:exon1:c.C35T:p.P12L,NPAS3:NM_173159:exon1:c.C35T:p.P12L",D,U,D,T,N,T
chr14,34398349,34398349,C,T,R007_S,EGLN3,Missense_Mutation,NM_001308103,exon3,c.G265A,p.D89N,SNP,SNVindel,exonic,EGLN3,NA,nonsynonymous SNV,"EGLN3:NM_001308103:exon3:c.G265A:p.D89N,EGLN3:NM_022073:exon3:c.G547A:p.D183N",T,D,D,T,D,T
chr14,34985667,34985667,C,T,R007_S,EAPP,Missense_Mutation,NM_018453,exon6,c.G707A,p.R236K,SNP,SNVindel,exonic,EAPP,NA,nonsynonymous SNV,EAPP:NM_018453:exon6:c.G707A:p.R236K,T,N,N,T,N,T
chr14,38724396,38724396,C,A,R007_S,CLEC14A,Nonsense_Mutation,NM_175060,exon1,c.G832T,p.E278X,SNP,SNVindel,exonic,CLEC14A,NA,stopgain,CLEC14A:NM_175060:exon1:c.G832T:p.E278X,.,N,D,.,.,.
chr14,38724634,38724634,C,T,R007_S,CLEC14A,Silent,NM_175060,exon1,c.G594A,p.L198L,SNP,SNVindel,exonic,CLEC14A,NA,synonymous SNV,CLEC14A:NM_175060:exon1:c.G594A:p.L198L,NA,NA,NA,NA,NA,NA
chr14,39722118,39722118,G,A,R007_S,MIA2,Silent,NM_001329214,exon5,c.G1734A,p.Q578Q,SNP,SNVindel,exonic,MIA2,NA,synonymous SNV,"MIA2:NM_001329214:exon5:c.G1734A:p.Q578Q,MIA2:NM_054024:exon5:c.G1734A:p.Q578Q",NA,NA,NA,NA,NA,NA
chr14,45478309,45478309,C,T,R007_S,TOGARAM1,Missense_Mutation,NM_001308120,exon6,c.C3098T,p.T1033I,SNP,SNVindel,exonic,TOGARAM1,NA,nonsynonymous SNV,"TOGARAM1:NM_001308120:exon6:c.C3098T:p.T1033I,TOGARAM1:NM_015091:exon6:c.C3098T:p.T1033I",D,D,D,T,N,T
chr14,45716108,45716108,C,T,R007_S,MIS18BP1,Missense_Mutation,NM_018353,exon2,c.G382A,p.E128K,SNP,SNVindel,exonic,MIS18BP1,NA,nonsynonymous SNV,MIS18BP1:NM_018353:exon2:c.G382A:p.E128K,T,N,N,T,N,T
chr14,50120768,50120768,C,T,R007_S,POLE2,Missense_Mutation,NM_001197330,exon14,c.G1073A,p.S358N,SNP,SNVindel,exonic,POLE2,NA,nonsynonymous SNV,"POLE2:NM_001197330:exon14:c.G1073A:p.S358N,POLE2:NM_001197331:exon15:c.G1151A:p.S384N,POLE2:NM_001348384:exon15:c.G1148A:p.S383N,POLE2:NM_001348385:exon15:c.G920A:p.S307N,POLE2:NM_002692:exon15:c.G1151A:p.S384N",T,D,D,T,N,T
chr14,50267289,50267289,C,T,R007_S,NEMF,Missense_Mutation,NM_001301732,exon22,c.G2158A,p.E720K,SNP,SNVindel,exonic,NEMF,NA,nonsynonymous SNV,"NEMF:NM_001301732:exon22:c.G2158A:p.E720K,NEMF:NM_004713:exon23:c.G2221A:p.E741K",T,N,N,T,N,T
chr14,50360606,50360606,C,T,R007_S,ARF6,Missense_Mutation,NM_001663,exon2,c.C152T,p.T51M,SNP,SNVindel,exonic,ARF6,NA,nonsynonymous SNV,ARF6:NM_001663:exon2:c.C152T:p.T51M,D,D,D,T,D,D
chr14,50360912,50360912,C,T,R007_S,ARF6,Missense_Mutation,NM_001663,exon2,c.C458T,p.P153L,SNP,SNVindel,exonic,ARF6,NA,nonsynonymous SNV,ARF6:NM_001663:exon2:c.C458T:p.P153L,D,D,D,D,D,D
chr14,51190188,51190188,C,T,R007_S,NIN,Missense_Mutation,NM_020921,exon31,c.G6395A,p.R2132K,SNP,SNVindel,exonic,NIN,NA,nonsynonymous SNV,NIN:NM_020921:exon31:c.G6395A:p.R2132K,D,N,D,T,N,T
chr14,51226978,51226978,C,T,R007_S,NIN,Missense_Mutation,NM_016350,exon17,c.G1996A,p.E666K,SNP,SNVindel,exonic,NIN,NA,nonsynonymous SNV,"NIN:NM_016350:exon17:c.G1996A:p.E666K,NIN:NM_020921:exon17:c.G1996A:p.E666K,NIN:NM_182944:exon17:c.G1996A:p.E666K,NIN:NM_182946:exon17:c.G1996A:p.E666K",D,N,N,T,D,T
chr14,51345530,51345530,C,T,R007_S,ABHD12B,Silent,NM_001206673,exon3,c.C300T,p.Y100Y,SNP,SNVindel,exonic,ABHD12B,NA,synonymous SNV,ABHD12B:NM_001206673:exon3:c.C300T:p.Y100Y,NA,NA,NA,NA,NA,NA
chr14,51375024,51375024,C,T,R007_S,PYGL,Missense_Mutation,NM_001163940,exon18,c.G2242A,p.V748I,SNP,SNVindel,exonic,PYGL,NA,nonsynonymous SNV,"PYGL:NM_001163940:exon18:c.G2242A:p.V748I,PYGL:NM_002863:exon19:c.G2344A:p.V782I",T,N,D,D,N,T
chr14,51561363,51561363,C,T,R007_S,TRIM9,Missense_Mutation,NM_015163,exon1,c.G295A,p.V99I,SNP,SNVindel,exonic,TRIM9,NA,nonsynonymous SNV,"TRIM9:NM_015163:exon1:c.G295A:p.V99I,TRIM9:NM_052978:exon1:c.G295A:p.V99I",T,D,D,T,N,T
chr14,52186829,52186829,C,T,R007_S,FRMD6,Nonsense_Mutation,NM_001267047,exon2,c.C7T,p.Q3X,SNP,SNVindel,exonic,FRMD6,NA,stopgain,"FRMD6:NM_001267047:exon2:c.C7T:p.Q3X,FRMD6:NM_001267046:exon11:c.C1081T:p.Q361X,FRMD6:NM_152330:exon11:c.C1057T:p.Q353X,FRMD6:NM_001042481:exon12:c.C1057T:p.Q353X",.,N,A,.,.,.
chr14,52781702,52781702,C,T,R007_S,PTGER2,Missense_Mutation,NM_000956,exon1,c.C436T,p.R146C,SNP,SNVindel,exonic,PTGER2,NA,nonsynonymous SNV,PTGER2:NM_000956:exon1:c.C436T:p.R146C,D,D,D,T,D,T
chr14,52906017,52906017,C,T,R007_S,TXNDC16,Missense_Mutation,NM_001160047,exon20,c.G2084A,p.G695D,SNP,SNVindel,exonic,TXNDC16,NA,nonsynonymous SNV,"TXNDC16:NM_001160047:exon20:c.G2084A:p.G695D,TXNDC16:NM_020784:exon20:c.G2099A:p.G700D",D,D,D,T,D,T
chr14,54897090,54897090,C,T,R007_S,CNIH1,Missense_Mutation,NM_005776,exon4,c.G296A,p.G99E,SNP,SNVindel,exonic,CNIH1,NA,nonsynonymous SNV,CNIH1:NM_005776:exon4:c.G296A:p.G99E,T,D,D,T,D,T
chr14,54996816,54996816,C,T,R007_S,CGRRF1,Silent,NM_006568,exon3,c.C294T,p.C98C,SNP,SNVindel,exonic,CGRRF1,NA,synonymous SNV,CGRRF1:NM_006568:exon3:c.C294T:p.C98C,NA,NA,NA,NA,NA,NA
chr14,55429688,55429688,C,T,R007_S,WDHD1,Missense_Mutation,NM_001008396,exon18,c.G2144A,p.R715K,SNP,SNVindel,exonic,WDHD1,NA,nonsynonymous SNV,"WDHD1:NM_001008396:exon18:c.G2144A:p.R715K,WDHD1:NM_007086:exon19:c.G2513A:p.R838K",T,D,D,T,N,T
chr14,55529909,55529909,G,A,R007_S,MAPK1IP1L,Missense_Mutation,NM_144578,exon3,c.G592A,p.A198T,SNP,SNVindel,exonic,MAPK1IP1L,NA,nonsynonymous SNV,MAPK1IP1L:NM_144578:exon3:c.G592A:p.A198T,T,N,N,.,N,T
chr14,55818898,55818898,C,T,R007_S,FBXO34,Missense_Mutation,NM_017943,exon2,c.C1790T,p.A597V,SNP,SNVindel,exonic,FBXO34,NA,nonsynonymous SNV,"FBXO34:NM_017943:exon2:c.C1790T:p.A597V,FBXO34:NM_152231:exon2:c.C1790T:p.A597V",T,D,D,T,D,T
chr14,55848806,55848806,C,T,R007_S,ATG14,Missense_Mutation,NM_014924,exon6,c.G751A,p.V251I,SNP,SNVindel,exonic,ATG14,NA,nonsynonymous SNV,ATG14:NM_014924:exon6:c.G751A:p.V251I,T,D,D,T,N,T
chr14,56645078,56645078,G,A,R007_S,PELI2,Missense_Mutation,NM_021255,exon2,c.G103A,p.D35N,SNP,SNVindel,exonic,PELI2,NA,nonsynonymous SNV,PELI2:NM_021255:exon2:c.G103A:p.D35N,T,D,D,T,D,T
chr14,56763491,56763491,C,T,R007_S,PELI2,Silent,NM_021255,exon6,c.C870T,p.T290T,SNP,SNVindel,exonic,PELI2,NA,synonymous SNV,PELI2:NM_021255:exon6:c.C870T:p.T290T,NA,NA,NA,NA,NA,NA
chr14,57749915,57749915,C,T,R007_S,AP5M1,Silent,NM_018229,exon6,c.C1260T,p.D420D,SNP,SNVindel,exonic,AP5M1,NA,synonymous SNV,AP5M1:NM_018229:exon6:c.C1260T:p.D420D,NA,NA,NA,NA,NA,NA
chr14,57948351,57948351,G,A,R007_S,CCDC198,Missense_Mutation,NM_001283056,exon4,c.C418T,p.P140S,SNP,SNVindel,exonic,CCDC198,NA,nonsynonymous SNV,"CCDC198:NM_001283056:exon4:c.C418T:p.P140S,CCDC198:NM_001283057:exon4:c.C418T:p.P140S,CCDC198:NM_001283058:exon4:c.C154T:p.P52S,CCDC198:NM_001283059:exon4:c.C154T:p.P52S,CCDC198:NM_001283060:exon4:c.C184T:p.P62S,CCDC198:NM_018168:exon4:c.C421T:p.P141S",T,N,N,T,N,T
chr14,58605748,58605748,C,T,R007_S,ARMH4,Missense_Mutation,NM_001001872,exon2,c.G329A,p.G110D,SNP,SNVindel,exonic,ARMH4,NA,nonsynonymous SNV,"ARMH4:NM_001001872:exon2:c.G329A:p.G110D,ARMH4:NM_001320173:exon2:c.G329A:p.G110D",T,N,N,T,N,T
chr14,59930958,59930958,C,T,R007_S,GPR135,Silent,NM_022571,exon1,c.G987A,p.T329T,SNP,SNVindel,exonic,GPR135,NA,synonymous SNV,GPR135:NM_022571:exon1:c.G987A:p.T329T,NA,NA,NA,NA,NA,NA
chr14,59961941,59961941,C,T,R007_S,JKAMP,Silent,NM_001098625,exon4,c.C439T,p.L147L,SNP,SNVindel,exonic,JKAMP,NA,synonymous SNV,"JKAMP:NM_001098625:exon4:c.C439T:p.L147L,JKAMP:NM_001284201:exon4:c.C499T:p.L167L,JKAMP:NM_001284203:exon4:c.C268T:p.L90L,JKAMP:NM_001284204:exon4:c.C457T:p.L153L,JKAMP:NM_016475:exon4:c.C457T:p.L153L,JKAMP:NM_001284202:exon5:c.C481T:p.L161L",NA,NA,NA,NA,NA,NA
chr14,60591256,60591256,G,A,R007_S,PCNX4,Silent,NM_022495,exon8,c.G1665A,p.G555G,SNP,SNVindel,exonic,PCNX4,NA,synonymous SNV,"PCNX4:NM_022495:exon8:c.G1665A:p.G555G,PCNX4:NM_001330177:exon9:c.G2367A:p.G789G",NA,NA,NA,NA,NA,NA
chr14,60756594,60756594,C,T,R007_S,PPM1A,Silent,NM_021003,exon4,c.C1023T,p.N341N,SNP,SNVindel,exonic,PPM1A,NA,synonymous SNV,"PPM1A:NM_021003:exon4:c.C1023T:p.N341N,PPM1A:NM_177952:exon4:c.C1242T:p.N414N",NA,NA,NA,NA,NA,NA
chr14,61186558,61186558,C,T,R007_S,SIX4,Missense_Mutation,NM_017420,exon2,c.G1469A,p.G490E,SNP,SNVindel,exonic,SIX4,NA,nonsynonymous SNV,SIX4:NM_017420:exon2:c.G1469A:p.G490E,T,D,D,D,N,D
chr14,61789104,61789104,C,T,R007_S,PRKCH,Silent,NM_006255,exon1,c.C285T,p.D95D,SNP,SNVindel,exonic,PRKCH,NA,synonymous SNV,PRKCH:NM_006255:exon1:c.C285T:p.D95D,NA,NA,NA,NA,NA,NA
chr14,62194277,62194277,C,T,R007_S,HIF1A,Missense_Mutation,NM_001243084,exon6,c.C749T,p.P250L,SNP,SNVindel,exonic,HIF1A,NA,nonsynonymous SNV,"HIF1A:NM_001243084:exon6:c.C749T:p.P250L,HIF1A:NM_001530:exon6:c.C677T:p.P226L,HIF1A:NM_181054:exon6:c.C677T:p.P226L",D,D,D,T,D,T
chr14,62203713,62203713,G,A,R007_S,HIF1A,Missense_Mutation,NM_001243084,exon9,c.G1207A,p.E403K,SNP,SNVindel,exonic,HIF1A,NA,nonsynonymous SNV,"HIF1A:NM_001243084:exon9:c.G1207A:p.E403K,HIF1A:NM_001530:exon9:c.G1135A:p.E379K,HIF1A:NM_181054:exon9:c.G1135A:p.E379K",T,N,D,T,N,T
chr14,62213756,62213756,C,T,R007_S,HIF1A,Silent,NM_001243084,exon15,c.C2506T,p.L836L,SNP,SNVindel,exonic,HIF1A,NA,synonymous SNV,"HIF1A:NM_001243084:exon15:c.C2506T:p.L836L,HIF1A:NM_001530:exon15:c.C2434T:p.L812L",NA,NA,NA,NA,NA,NA
chr14,62541883,62541883,C,T,R007_S,SYT16,Missense_Mutation,NM_001367654,exon3,c.C224T,p.S75F,SNP,SNVindel,exonic,SYT16,NA,nonsynonymous SNV,"SYT16:NM_001367654:exon3:c.C224T:p.S75F,SYT16:NM_001367652:exon4:c.C437T:p.S146F,SYT16:NM_001367657:exon4:c.C218T:p.S73F,SYT16:NM_001367656:exon5:c.C767T:p.S256F,SYT16:NM_001367659:exon5:c.C431T:p.S144F,SYT16:NM_001367663:exon5:c.C767T:p.S256F,SYT16:NM_001367661:exon6:c.C767T:p.S256F",.,N,D,.,.,T
chr14,62567198,62567198,C,T,R007_S,SYT16,Missense_Mutation,NM_001367654,exon6,c.C1168T,p.P390S,SNP,SNVindel,exonic,SYT16,NA,nonsynonymous SNV,"SYT16:NM_001367654:exon6:c.C1168T:p.P390S,SYT16:NM_001367650:exon7:c.C793T:p.P265S,SYT16:NM_001367652:exon7:c.C1381T:p.P461S,SYT16:NM_001367657:exon7:c.C1162T:p.P388S,SYT16:NM_001367656:exon8:c.C1711T:p.P571S,SYT16:NM_001367659:exon8:c.C1375T:p.P459S,SYT16:NM_001367663:exon8:c.C1711T:p.P571S,SYT16:NM_001367661:exon9:c.C1711T:p.P571S",.,D,D,.,.,D
chr14,65016769,65016769,C,T,R007_S,PPP1R36,Silent,NM_172365,exon1,c.C54T,p.T18T,SNP,SNVindel,exonic,PPP1R36,NA,synonymous SNV,PPP1R36:NM_172365:exon1:c.C54T:p.T18T,NA,NA,NA,NA,NA,NA
chr14,65195804,65195804,C,T,R007_S,PLEKHG3,Silent,NM_001308147,exon3,c.C442T,p.L148L,SNP,SNVindel,exonic,PLEKHG3,NA,synonymous SNV,PLEKHG3:NM_001308147:exon3:c.C442T:p.L148L,NA,NA,NA,NA,NA,NA
chr14,67389509,67389509,C,T,R007_S,GPHN,Missense_Mutation,NM_001024218,exon7,c.C583T,p.P195S,SNP,SNVindel,exonic,GPHN,NA,nonsynonymous SNV,"GPHN:NM_001024218:exon7:c.C583T:p.P195S,GPHN:NM_020806:exon7:c.C583T:p.P195S",D,D,D,.,N,T
chr14,68191933,68191933,C,T,R007_S,RDH12,Missense_Mutation,NM_152443,exon5,c.C305T,p.T102I,SNP,SNVindel,exonic,RDH12,NA,nonsynonymous SNV,RDH12:NM_152443:exon5:c.C305T:p.T102I,T,D,D,D,N,D
chr14,68251993,68251993,C,T,R007_S,ZFYVE26,Silent,NM_015346,exon19,c.G3306A,p.E1102E,SNP,SNVindel,exonic,ZFYVE26,NA,synonymous SNV,ZFYVE26:NM_015346:exon19:c.G3306A:p.E1102E,NA,NA,NA,NA,NA,NA
chr14,68758627,68758627,C,T,R007_S,RAD51B,Silent,NM_001321812,exon7,c.C783T,p.T261T,SNP,SNVindel,exonic,RAD51B,NA,synonymous SNV,"RAD51B:NM_001321812:exon7:c.C783T:p.T261T,RAD51B:NM_001321815:exon7:c.C669T:p.T223T,RAD51B:NM_001321809:exon8:c.C783T:p.T261T,RAD51B:NM_001321810:exon8:c.C783T:p.T261T,RAD51B:NM_001321814:exon8:c.C783T:p.T261T,RAD51B:NM_001321818:exon8:c.C783T:p.T261T,RAD51B:NM_001321819:exon8:c.C783T:p.T261T,RAD51B:NM_001321821:exon8:c.C783T:p.T261T,RAD51B:NM_002877:exon8:c.C783T:p.T261T,RAD51B:NM_133509:exon8:c.C783T:p.T261T,RAD51B:NM_133510:exon8:c.C783T:p.T261T,RAD51B:NM_001321817:exon9:c.C426T:p.T142T",NA,NA,NA,NA,NA,NA
chr14,69257178,69257178,C,T,R007_S,ZFP36L1,Missense_Mutation,NM_001244698,exon2,c.G89A,p.S30N,SNP,SNVindel,exonic,ZFP36L1,NA,nonsynonymous SNV,"ZFP36L1:NM_001244698:exon2:c.G89A:p.S30N,ZFP36L1:NM_004926:exon2:c.G89A:p.S30N,ZFP36L1:NM_001244701:exon3:c.G296A:p.S99N",T,U,D,T,N,T
chr14,69522272,69522272,C,T,R007_S,DCAF5,Silent,NM_001284206,exon9,c.G1128A,p.E376E,SNP,SNVindel,exonic,DCAF5,NA,synonymous SNV,"DCAF5:NM_001284206:exon9:c.G1128A:p.E376E,DCAF5:NM_001284207:exon9:c.G885A:p.E295E,DCAF5:NM_003861:exon9:c.G1131A:p.E377E",NA,NA,NA,NA,NA,NA
chr14,69787470,69787470,C,T,R007_S,GALNT16,Silent,NM_001168368,exon2,c.C220T,p.L74L,SNP,SNVindel,exonic,GALNT16,NA,synonymous SNV,"GALNT16:NM_001168368:exon2:c.C220T:p.L74L,GALNT16:NM_020692:exon2:c.C220T:p.L74L",NA,NA,NA,NA,NA,NA
chr14,69799871,69799871,C,T,R007_S,GALNT16,Missense_Mutation,NM_001168368,exon8,c.C848T,p.P283L,SNP,SNVindel,exonic,GALNT16,NA,nonsynonymous SNV,"GALNT16:NM_001168368:exon8:c.C848T:p.P283L,GALNT16:NM_020692:exon8:c.C848T:p.P283L",D,D,D,T,D,T
chr14,70633982,70633982,C,T,R007_S,SLC8A3,Silent,NM_033262,exon2,c.G1158A,p.V386V,SNP,SNVindel,exonic,SLC8A3,NA,synonymous SNV,"SLC8A3:NM_033262:exon2:c.G1158A:p.V386V,SLC8A3:NM_058240:exon2:c.G1158A:p.V386V,SLC8A3:NM_182932:exon2:c.G1158A:p.V386V,SLC8A3:NM_183002:exon2:c.G1158A:p.V386V",NA,NA,NA,NA,NA,NA
chr14,71445319,71445319,C,T,R007_S,PCNX1,Silent,NM_001308160,exon6,c.C2265T,p.N755N,SNP,SNVindel,exonic,PCNX1,NA,synonymous SNV,"PCNX1:NM_001308160:exon6:c.C2265T:p.N755N,PCNX1:NM_014982:exon6:c.C2265T:p.N755N",NA,NA,NA,NA,NA,NA
chr14,72054598,72054598,C,T,R007_S,SIPA1L1,Silent,NM_001284246,exon2,c.C9T,p.S3S,SNP,SNVindel,exonic,SIPA1L1,NA,synonymous SNV,"SIPA1L1:NM_001284246:exon2:c.C9T:p.S3S,SIPA1L1:NM_001284247:exon4:c.C9T:p.S3S,SIPA1L1:NM_001354285:exon5:c.C9T:p.S3S,SIPA1L1:NM_001354287:exon5:c.C9T:p.S3S,SIPA1L1:NM_001354288:exon5:c.C9T:p.S3S,SIPA1L1:NM_001354286:exon6:c.C9T:p.S3S,SIPA1L1:NM_001284245:exon7:c.C9T:p.S3S,SIPA1L1:NM_015556:exon7:c.C9T:p.S3S",NA,NA,NA,NA,NA,NA
chr14,73464864,73464864,C,T,R007_S,ZFYVE1,Missense_Mutation,NM_001281734,exon3,c.G643A,p.E215K,SNP,SNVindel,exonic,ZFYVE1,NA,nonsynonymous SNV,"ZFYVE1:NM_001281734:exon3:c.G643A:p.E215K,ZFYVE1:NM_021260:exon3:c.G643A:p.E215K",T,N,D,T,N,T
chr14,73729236,73729236,C,T,R007_S,PAPLN,Silent,NM_001365906,exon18,c.C2424T,p.L808L,SNP,SNVindel,exonic,PAPLN,NA,synonymous SNV,"PAPLN:NM_001365906:exon18:c.C2424T:p.L808L,PAPLN:NM_001365907:exon18:c.C2376T:p.L792L,PAPLN:NM_173462:exon18:c.C2343T:p.L781L",NA,NA,NA,NA,NA,NA
chr14,73957791,73957791,G,A,R007_S,RIOX1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,RIOX1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr14,73973184,73973184,C,T,R007_S,HEATR4,Missense_Mutation,NM_203309,exon9,c.G1973A,p.G658E,SNP,SNVindel,exonic,HEATR4,NA,nonsynonymous SNV,"HEATR4:NM_203309:exon9:c.G1973A:p.G658E,HEATR4:NM_001220484:exon10:c.G1973A:p.G658E",D,N,D,T,D,T
chr14,73980864,73980864,C,T,R007_S,HEATR4,Missense_Mutation,NM_203309,exon5,c.G1285A,p.G429S,SNP,SNVindel,exonic,HEATR4,NA,nonsynonymous SNV,"HEATR4:NM_203309:exon5:c.G1285A:p.G429S,HEATR4:NM_001220484:exon6:c.G1285A:p.G429S",T,N,N,T,N,T
chr14,74085959,74085959,C,T,R007_S,ACOT6,Missense_Mutation,NM_001037162,exon2,c.C40T,p.L14F,SNP,SNVindel,exonic,ACOT6,NA,nonsynonymous SNV,"ACOT6:NM_001037162:exon2:c.C40T:p.L14F,ACOT6:NM_001365788:exon3:c.C682T:p.L228F,ACOT6:NM_001365789:exon4:c.C40T:p.L14F",D,D,D,T,D,T
chr14,74179325,74179325,C,T,R007_S,PNMA1,Missense_Mutation,NM_006029,exon1,c.G1018A,p.A340T,SNP,SNVindel,exonic,PNMA1,NA,nonsynonymous SNV,PNMA1:NM_006029:exon1:c.G1018A:p.A340T,T,D,D,T,N,T
chr14,74191998,74191998,C,T,R007_S,ELMSAN1,Missense_Mutation,NM_001043318,exon9,c.G2551A,p.D851N,SNP,SNVindel,exonic,ELMSAN1,NA,nonsynonymous SNV,"ELMSAN1:NM_001043318:exon9:c.G2551A:p.D851N,ELMSAN1:NM_001367710:exon9:c.G2551A:p.D851N,ELMSAN1:NM_194278:exon9:c.G2551A:p.D851N",D,D,D,T,D,T
chr14,74346838,74346838,C,T,R007_S,PTGR2,Silent,NM_001371327,exon6,c.C600T,p.S200S,SNP,SNVindel,exonic,PTGR2,NA,synonymous SNV,"PTGR2:NM_001371327:exon6:c.C600T:p.S200S,PTGR2:NM_001371328:exon6:c.C600T:p.S200S,PTGR2:NM_001371329:exon6:c.C600T:p.S200S,PTGR2:NM_001146154:exon7:c.C810T:p.S270S,PTGR2:NM_001146155:exon7:c.C810T:p.S270S,PTGR2:NM_001371325:exon7:c.C810T:p.S270S,PTGR2:NM_152444:exon7:c.C810T:p.S270S,PTGR2:NM_001371330:exon8:c.C408T:p.S136S,PTGR2:NM_001371331:exon8:c.C408T:p.S136S,PTGR2:NM_001371332:exon8:c.C408T:p.S136S",NA,NA,NA,NA,NA,NA
chr14,74428192,74428192,C,T,R007_S,COQ6,Nonsense_Mutation,NM_182476,exon10,c.C1129T,p.Q377X,SNP,SNVindel,exonic,COQ6,NA,stopgain,"COQ6:NM_182476:exon10:c.C1129T:p.Q377X,COQ6:NM_182480:exon10:c.C1054T:p.Q352X",.,D,A,.,.,.
chr14,74533426,74533426,G,A,R007_S,ALDH6A1,Silent,NM_001278593,exon9,c.C1167T,p.T389T,SNP,SNVindel,exonic,ALDH6A1,NA,synonymous SNV,"ALDH6A1:NM_001278593:exon9:c.C1167T:p.T389T,ALDH6A1:NM_001278594:exon9:c.C744T:p.T248T,ALDH6A1:NM_005589:exon9:c.C1206T:p.T402T",NA,NA,NA,NA,NA,NA
chr14,74961630,74961630,C,T,R007_S,ISCA2,Missense_Mutation,NM_194279,exon4,c.C392T,p.S131L,SNP,SNVindel,exonic,ISCA2,NA,nonsynonymous SNV,ISCA2:NM_194279:exon4:c.C392T:p.S131L,D,D,D,.,D,D
chr14,74995222,74995222,C,T,R007_S,LTBP2,Missense_Mutation,NM_000428,exon12,c.G2332A,p.D778N,SNP,SNVindel,exonic,LTBP2,NA,nonsynonymous SNV,LTBP2:NM_000428:exon12:c.G2332A:p.D778N,T,N,N,T,N,T
chr14,75515360,75515360,C,T,R007_S,MLH3,Nonsense_Mutation,NM_001040108,exon2,c.G999A,p.W333X,SNP,SNVindel,exonic,MLH3,NA,stopgain,"MLH3:NM_001040108:exon2:c.G999A:p.W333X,MLH3:NM_014381:exon2:c.G999A:p.W333X",.,D,A,.,.,.
chr14,75567763,75567763,C,T,R007_S,NEK9,Missense_Mutation,NM_001329237,exon16,c.G1970A,p.G657E,SNP,SNVindel,exonic,NEK9,NA,nonsynonymous SNV,"NEK9:NM_001329237:exon16:c.G1970A:p.G657E,NEK9:NM_001329238:exon16:c.G1580A:p.G527E,NEK9:NM_033116:exon16:c.G1934A:p.G645E",T,D,D,D,N,D
chr14,75614435,75614435,C,T,R007_S,TMED10,Missense_Mutation,NM_006827,exon3,c.G343A,p.G115R,SNP,SNVindel,exonic,TMED10,NA,nonsynonymous SNV,TMED10:NM_006827:exon3:c.G343A:p.G115R,T,D,D,T,N,T
chr14,75989075,75989075,C,T,R007_S,BATF,Missense_Mutation,NM_006399,exon1,c.C50T,p.P17L,SNP,SNVindel,exonic,BATF,NA,nonsynonymous SNV,BATF:NM_006399:exon1:c.C50T:p.P17L,D,N,D,T,N,T
chr14,76088448,76088448,C,T,R007_S,FLVCR2,Silent,NM_001195283,exon2,c.C81T,p.V27V,SNP,SNVindel,exonic,FLVCR2,NA,synonymous SNV,"FLVCR2:NM_001195283:exon2:c.C81T:p.V27V,FLVCR2:NM_017791:exon2:c.C696T:p.V232V",NA,NA,NA,NA,NA,NA
chr14,76368557,76368557,C,T,R007_S,TTLL5,Silent,NM_015072,exon31,c.C3813T,p.T1271T,SNP,SNVindel,exonic,TTLL5,NA,synonymous SNV,TTLL5:NM_015072:exon31:c.C3813T:p.T1271T,NA,NA,NA,NA,NA,NA
chr14,76549816,76549816,G,A,R007_S,IFT43,Missense_Mutation,NM_052873,exon8,c.G538A,p.D180N,SNP,SNVindel,exonic,IFT43,NA,nonsynonymous SNV,"IFT43:NM_052873:exon8:c.G538A:p.D180N,IFT43:NM_001102564:exon9:c.G523A:p.D175N",T,D,D,T,D,T
chr14,76662225,76662225,G,A,R007_S,GPATCH2L,Missense_Mutation,NM_017972,exon8,c.G1183A,p.A395T,SNP,SNVindel,exonic,GPATCH2L,NA,nonsynonymous SNV,"GPATCH2L:NM_017972:exon8:c.G1183A:p.A395T,GPATCH2L:NM_001322028:exon9:c.G1198A:p.A400T,GPATCH2L:NM_001322029:exon9:c.G1198A:p.A400T,GPATCH2L:NM_001322030:exon9:c.G1198A:p.A400T,GPATCH2L:NM_017926:exon9:c.G1198A:p.A400T",T,N,D,T,N,T
chr14,77242368,77242368,C,T,R007_S,VASH1,Missense_Mutation,NM_014909,exon5,c.C664T,p.R222W,SNP,SNVindel,exonic,VASH1,NA,nonsynonymous SNV,VASH1:NM_014909:exon5:c.C664T:p.R222W,D,D,D,.,D,T
chr14,77242562,77242562,C,T,R007_S,VASH1,Silent,NM_014909,exon5,c.C858T,p.G286G,SNP,SNVindel,exonic,VASH1,NA,synonymous SNV,VASH1:NM_014909:exon5:c.C858T:p.G286G,NA,NA,NA,NA,NA,NA
chr14,77942207,77942207,C,T,R007_S,ISM2,Missense_Mutation,NM_199296,exon7,c.G1447A,p.E483K,SNP,SNVindel,exonic,ISM2,NA,nonsynonymous SNV,ISM2:NM_199296:exon7:c.G1447A:p.E483K,D,N,D,T,D,T
chr14,77948839,77948839,C,T,R007_S,ISM2,Missense_Mutation,NM_199296,exon4,c.G799A,p.E267K,SNP,SNVindel,exonic,ISM2,NA,nonsynonymous SNV,ISM2:NM_199296:exon4:c.G799A:p.E267K,T,.,D,T,N,T
chr14,78174344,78174344,C,T,R007_S,ALKBH1,Missense_Mutation,NM_006020,exon1,c.G4A,p.G2R,SNP,SNVindel,exonic,ALKBH1,NA,nonsynonymous SNV,ALKBH1:NM_006020:exon1:c.G4A:p.G2R,T,N,D,T,N,T
chr14,81953821,81953821,C,T,R007_S,SEL1L,Silent,NM_005065,exon16,c.G1545A,p.Q515Q,SNP,SNVindel,exonic,SEL1L,NA,synonymous SNV,SEL1L:NM_005065:exon16:c.G1545A:p.Q515Q,NA,NA,NA,NA,NA,NA
chr14,86089475,86089475,C,T,R007_S,FLRT2,Silent,NM_001346143,exon2,c.C1617T,p.S539S,SNP,SNVindel,exonic,FLRT2,NA,synonymous SNV,"FLRT2:NM_001346143:exon2:c.C1617T:p.S539S,FLRT2:NM_001346144:exon2:c.C1617T:p.S539S,FLRT2:NM_001346145:exon2:c.C1617T:p.S539S,FLRT2:NM_001346146:exon2:c.C1617T:p.S539S,FLRT2:NM_013231:exon2:c.C1617T:p.S539S",NA,NA,NA,NA,NA,NA
chr14,88477784,88477784,C,T,R007_S,GPR65,Missense_Mutation,NM_003608,exon2,c.C593T,p.T198I,SNP,SNVindel,exonic,GPR65,NA,nonsynonymous SNV,GPR65:NM_003608:exon2:c.C593T:p.T198I,T,N,N,T,N,T
chr14,90769110,90769110,G,A,R007_S,NRDE2,Silent,NM_017970,exon6,c.C1365T,p.S455S,SNP,SNVindel,exonic,NRDE2,NA,synonymous SNV,NRDE2:NM_017970:exon6:c.C1365T:p.S455S,NA,NA,NA,NA,NA,NA
chr14,91282556,91282556,C,T,R007_S,TTC7B,Silent,NM_001010854,exon1,c.G84A,p.E28E,SNP,SNVindel,exonic,TTC7B,NA,synonymous SNV,TTC7B:NM_001010854:exon1:c.G84A:p.E28E,NA,NA,NA,NA,NA,NA
chr14,91763702,91763702,C,T,R007_S,CCDC88C,Missense_Mutation,NM_001080414,exon22,c.G3913A,p.E1305K,SNP,SNVindel,exonic,CCDC88C,NA,nonsynonymous SNV,CCDC88C:NM_001080414:exon22:c.G3913A:p.E1305K,D,U,D,T,D,T
chr14,91975911,91975911,C,T,R007_S,PPP4R3A,Silent,NM_001284280,exon1,c.G81A,p.V27V,SNP,SNVindel,exonic,PPP4R3A,NA,synonymous SNV,"PPP4R3A:NM_001284280:exon1:c.G81A:p.V27V,PPP4R3A:NM_001284281:exon1:c.G81A:p.V27V,PPP4R3A:NM_001366432:exon1:c.G81A:p.V27V",NA,NA,NA,NA,NA,NA
chr14,92470734,92470734,C,T,R007_S,TRIP11,Missense_Mutation,NM_001321851,exon11,c.G3583A,p.A1195T,SNP,SNVindel,exonic,TRIP11,NA,nonsynonymous SNV,"TRIP11:NM_001321851:exon11:c.G3583A:p.A1195T,TRIP11:NM_004239:exon11:c.G3586A:p.A1196T",T,N,N,T,N,T
chr14,92959822,92959822,C,T,R007_S,SLC24A4,Silent,NM_153646,exon17,c.C1719T,p.V573V,SNP,SNVindel,exonic,SLC24A4,NA,synonymous SNV,"SLC24A4:NM_153646:exon17:c.C1719T:p.V573V,SLC24A4:NM_153648:exon17:c.C1527T:p.V509V,SLC24A4:NM_153647:exon18:c.C1662T:p.V554V",NA,NA,NA,NA,NA,NA
chr14,93151469,93151469,G,A,R007_S,RIN3,Missense_Mutation,NM_001319987,exon8,c.G2380A,p.A794T,SNP,SNVindel,exonic,RIN3,NA,nonsynonymous SNV,"RIN3:NM_001319987:exon8:c.G2380A:p.A794T,RIN3:NM_024832:exon9:c.G2605A:p.A869T",T,D,D,D,N,T
chr14,94405915,94405915,C,T,R007_S,ASB2,Missense_Mutation,NM_016150,exon6,c.G1012A,p.E338K,SNP,SNVindel,exonic,ASB2,NA,nonsynonymous SNV,"ASB2:NM_016150:exon6:c.G1012A:p.E338K,ASB2:NM_001202429:exon8:c.G1156A:p.E386K",D,N,D,T,D,T
chr14,94527276,94527276,C,T,R007_S,DDX24,Silent,NM_020414,exon4,c.G1380A,p.R460R,SNP,SNVindel,exonic,DDX24,NA,synonymous SNV,DDX24:NM_020414:exon4:c.G1380A:p.R460R,NA,NA,NA,NA,NA,NA
chr14,94712746,94712746,C,T,R007_S,PPP4R4,Missense_Mutation,NM_001348142,exon14,c.C1238T,p.A413V,SNP,SNVindel,exonic,PPP4R4,NA,nonsynonymous SNV,"PPP4R4:NM_001348142:exon14:c.C1238T:p.A413V,PPP4R4:NM_058237:exon14:c.C1481T:p.A494V,PPP4R4:NM_001348144:exon15:c.C1160T:p.A387V,PPP4R4:NM_001348143:exon16:c.C1160T:p.A387V",T,D,D,T,N,T
chr14,95033340,95033340,C,T,R007_S,SERPINA4,Missense_Mutation,NM_001289032,exon3,c.C794T,p.T265I,SNP,SNVindel,exonic,SERPINA4,NA,nonsynonymous SNV,"SERPINA4:NM_001289032:exon3:c.C794T:p.T265I,SERPINA4:NM_001289033:exon3:c.C683T:p.T228I,SERPINA4:NM_006215:exon3:c.C683T:p.T228I",D,N,N,D,D,D
chr14,95053759,95053759,C,T,R007_S,SERPINA5,Silent,NM_000624,exon3,c.C60T,p.H20H,SNP,SNVindel,exonic,SERPINA5,NA,synonymous SNV,SERPINA5:NM_000624:exon3:c.C60T:p.H20H,NA,NA,NA,NA,NA,NA
chr14,95669694,95669694,C,T,R007_S,CLMN,Silent,NM_024734,exon9,c.G1992A,p.K664K,SNP,SNVindel,exonic,CLMN,NA,synonymous SNV,CLMN:NM_024734:exon9:c.G1992A:p.K664K,NA,NA,NA,NA,NA,NA
chr14,95905981,95905981,C,T,R007_S,SYNE3,Silent,NM_001363692,exon12,c.G2214A,p.R738R,SNP,SNVindel,exonic,SYNE3,NA,synonymous SNV,"SYNE3:NM_001363692:exon12:c.G2214A:p.R738R,SYNE3:NM_152592:exon12:c.G2214A:p.R738R",NA,NA,NA,NA,NA,NA
chr14,96703454,96703454,C,T,R007_S,BDKRB2,Missense_Mutation,NM_000623,exon2,c.C10T,p.P4S,SNP,SNVindel,exonic,BDKRB2,NA,nonsynonymous SNV,BDKRB2:NM_000623:exon2:c.C10T:p.P4S,T,N,N,T,N,T
chr14,97022584,97022584,C,T,R007_S,PAPOLA,Missense_Mutation,NM_001293632,exon17,c.C1088T,p.S363F,SNP,SNVindel,exonic,PAPOLA,NA,nonsynonymous SNV,"PAPOLA:NM_001293632:exon17:c.C1088T:p.S363F,PAPOLA:NM_001293627:exon19:c.C1835T:p.S612F,PAPOLA:NM_001293628:exon19:c.C1088T:p.S363F,PAPOLA:NM_001363662:exon19:c.C1838T:p.S613F,PAPOLA:NM_001363664:exon19:c.C1835T:p.S612F,PAPOLA:NM_001363665:exon19:c.C1838T:p.S613F,PAPOLA:NM_001363666:exon19:c.C1835T:p.S612F,PAPOLA:NM_032632:exon19:c.C1838T:p.S613F",D,D,D,.,N,T
chr14,99977054,99977054,C,T,R007_S,CCNK,Missense_Mutation,NM_001099402,exon11,c.C1678T,p.P560S,SNP,SNVindel,exonic,CCNK,NA,nonsynonymous SNV,CCNK:NM_001099402:exon11:c.C1678T:p.P560S,D,N,D,T,N,T
chr14,100125951,100125951,C,T,R007_S,HHIPL1,Silent,NM_001127258,exon4,c.C1233T,p.G411G,SNP,SNVindel,exonic,HHIPL1,NA,synonymous SNV,"HHIPL1:NM_001127258:exon4:c.C1233T:p.G411G,HHIPL1:NM_032425:exon4:c.C1233T:p.G411G,HHIPL1:NM_001329411:exon5:c.C1038T:p.G346G",NA,NA,NA,NA,NA,NA
chr14,101004692,101004692,G,A,R007_S,BEGAIN,Missense_Mutation,NM_001159531,exon6,c.C1396T,p.P466S,SNP,SNVindel,exonic,BEGAIN,NA,nonsynonymous SNV,"BEGAIN:NM_001159531:exon6:c.C1396T:p.P466S,BEGAIN:NM_020836:exon7:c.C1396T:p.P466S",T,D,D,.,D,T
chr14,101347760,101347760,G,A,R007_S,RTL1,Silent,NM_001134888,exon1,c.C3366T,p.R1122R,SNP,SNVindel,exonic,RTL1,NA,synonymous SNV,RTL1:NM_001134888:exon1:c.C3366T:p.R1122R,NA,NA,NA,NA,NA,NA
chr14,101350906,101350906,G,A,R007_S,RTL1,Missense_Mutation,NM_001134888,exon1,c.C220T,p.L74F,SNP,SNVindel,exonic,RTL1,NA,nonsynonymous SNV,RTL1:NM_001134888:exon1:c.C220T:p.L74F,T,.,N,T,N,T
chr14,102348577,102348577,C,T,R007_S,PPP2R5C,Missense_Mutation,NM_001352912,exon3,c.C374T,p.P125L,SNP,SNVindel,exonic,PPP2R5C,NA,nonsynonymous SNV,"PPP2R5C:NM_001352912:exon3:c.C374T:p.P125L,PPP2R5C:NM_002719:exon3:c.C374T:p.P125L,PPP2R5C:NM_178586:exon3:c.C374T:p.P125L,PPP2R5C:NM_178587:exon3:c.C374T:p.P125L,PPP2R5C:NM_001352915:exon4:c.C149T:p.P50L,PPP2R5C:NM_001352916:exon4:c.C149T:p.P50L,PPP2R5C:NM_001161725:exon5:c.C467T:p.P156L,PPP2R5C:NM_001161726:exon5:c.C539T:p.P180L,PPP2R5C:NM_001352913:exon5:c.C539T:p.P180L,PPP2R5C:NM_001352914:exon5:c.C554T:p.P185L",D,D,D,T,D,D
chr14,102476244,102476244,C,T,R007_S,DYNC1H1,Silent,NM_001376,exon30,c.C6042T,p.I2014I,SNP,SNVindel,exonic,DYNC1H1,NA,synonymous SNV,DYNC1H1:NM_001376:exon30:c.C6042T:p.I2014I,NA,NA,NA,NA,NA,NA
chr14,102483434,102483434,C,T,R007_S,DYNC1H1,Missense_Mutation,NM_001376,exon39,c.C7858T,p.L2620F,SNP,SNVindel,exonic,DYNC1H1,NA,nonsynonymous SNV,DYNC1H1:NM_001376:exon39:c.C7858T:p.L2620F,D,D,D,T,D,T
chr14,102675125,102675125,C,T,R007_S,WDR20,Silent,NM_001242416,exon2,c.C435T,p.S145S,SNP,SNVindel,exonic,WDR20,NA,synonymous SNV,"WDR20:NM_001242416:exon2:c.C435T:p.S145S,WDR20:NM_001353659:exon2:c.C471T:p.S157S,WDR20:NM_001353665:exon2:c.C99T:p.S33S,WDR20:NM_001353671:exon2:c.C99T:p.S33S,WDR20:NM_181308:exon2:c.C435T:p.S145S,WDR20:NM_001242418:exon3:c.C654T:p.S218S,WDR20:NM_001353656:exon3:c.C618T:p.S206S,WDR20:NM_001353657:exon3:c.C618T:p.S206S,WDR20:NM_001353662:exon3:c.C99T:p.S33S,WDR20:NM_001353664:exon3:c.C99T:p.S33S,WDR20:NM_001353668:exon3:c.C99T:p.S33S,WDR20:NM_001353674:exon3:c.C99T:p.S33S,WDR20:NM_144574:exon3:c.C618T:p.S206S,WDR20:NM_181291:exon3:c.C618T:p.S206S,WDR20:NM_001242417:exon4:c.C711T:p.S237S,WDR20:NM_001330228:exon4:c.C711T:p.S237S,WDR20:NM_001353658:exon4:c.C468T:p.S156S,WDR20:NM_001353660:exon4:c.C468T:p.S156S,WDR20:NM_001353661:exon4:c.C225T:p.S75S,WDR20:NM_001353663:exon4:c.C99T:p.S33S,WDR20:NM_001353666:exon4:c.C99T:p.S33S,WDR20:NM_001353669:exon4:c.C99T:p.S33S,WDR20:NM_001353670:exon4:c.C99T:p.S33S,WDR20:NM_001353672:exon4:c.C99T:p.S33S,WDR20:NM_001353667:exon5:c.C99T:p.S33S,WDR20:NM_001353673:exon5:c.C99T:p.S33S",NA,NA,NA,NA,NA,NA
chr14,102906807,102906807,C,T,R007_S,TECPR2,Silent,NM_001172631,exon11,c.C2613T,p.N871N,SNP,SNVindel,exonic,TECPR2,NA,synonymous SNV,"TECPR2:NM_001172631:exon11:c.C2613T:p.N871N,TECPR2:NM_014844:exon11:c.C2613T:p.N871N",NA,NA,NA,NA,NA,NA
chr14,103395177,103395177,C,T,R007_S,AMN,Silent,NM_030943,exon5,c.C378T,p.G126G,SNP,SNVindel,exonic,AMN,NA,synonymous SNV,AMN:NM_030943:exon5:c.C378T:p.G126G,NA,NA,NA,NA,NA,NA
chr14,103396010,103396010,C,T,R007_S,AMN,Missense_Mutation,NM_030943,exon8,c.C779T,p.T260I,SNP,SNVindel,exonic,AMN,NA,nonsynonymous SNV,AMN:NM_030943:exon8:c.C779T:p.T260I,T,U,N,D,D,T
chr14,103410653,103410653,C,T,R007_S,CDC42BPB,Missense_Mutation,NM_006035,exon30,c.G3983A,p.C1328Y,SNP,SNVindel,exonic,CDC42BPB,NA,nonsynonymous SNV,CDC42BPB:NM_006035:exon30:c.G3983A:p.C1328Y,D,D,D,T,D,T
chr14,103566676,103566676,C,T,R007_S,EXOC3L4,Silent,NM_001077594,exon1,c.C120T,p.A40A,SNP,SNVindel,exonic,EXOC3L4,NA,synonymous SNV,EXOC3L4:NM_001077594:exon1:c.C120T:p.A40A,NA,NA,NA,NA,NA,NA
chr14,103986911,103986911,G,A,R007_S,CKB,Silent,NM_001362531,exon5,c.C744T,p.T248T,SNP,SNVindel,exonic,CKB,NA,synonymous SNV,"CKB:NM_001362531:exon5:c.C744T:p.T248T,CKB:NM_001823:exon6:c.C672T:p.T224T",NA,NA,NA,NA,NA,NA
chr14,104001058,104001058,C,T,R007_S,TRMT61A,Missense_Mutation,NM_152307,exon4,c.C770T,p.P257L,SNP,SNVindel,exonic,TRMT61A,NA,nonsynonymous SNV,TRMT61A:NM_152307:exon4:c.C770T:p.P257L,T,U,N,T,N,T
chr14,104638967,104638967,C,T,R007_S,KIF26A,Missense_Mutation,NM_015656,exon7,c.C1382T,p.A461V,SNP,SNVindel,exonic,KIF26A,NA,nonsynonymous SNV,KIF26A:NM_015656:exon7:c.C1382T:p.A461V,D,.,D,T,D,T
chr14,104641614,104641614,C,T,R007_S,KIF26A,Missense_Mutation,NM_015656,exon12,c.C2489T,p.P830L,SNP,SNVindel,exonic,KIF26A,NA,nonsynonymous SNV,KIF26A:NM_015656:exon12:c.C2489T:p.P830L,D,.,N,T,D,T
chr14,105180863,105180863,C,T,R007_S,INF2,Missense_Mutation,NM_001031714,exon21,c.C3364T,p.P1122S,SNP,SNVindel,exonic,INF2,NA,nonsynonymous SNV,"INF2:NM_001031714:exon21:c.C3364T:p.P1122S,INF2:NM_022489:exon21:c.C3364T:p.P1122S",T,.,N,T,N,T
chr14,105397246,105397246,C,T,R007_S,PLD4,Silent,NM_001308174,exon7,c.C906T,p.L302L,SNP,SNVindel,exonic,PLD4,NA,synonymous SNV,"PLD4:NM_001308174:exon7:c.C906T:p.L302L,PLD4:NM_138790:exon7:c.C885T:p.L295L",NA,NA,NA,NA,NA,NA
chr14,105406746,105406746,C,T,R007_S,AHNAK2,Silent,NM_001350929,exon7,c.G14742A,p.G4914G,SNP,SNVindel,exonic,AHNAK2,NA,synonymous SNV,"AHNAK2:NM_001350929:exon7:c.G14742A:p.G4914G,AHNAK2:NM_138420:exon7:c.G15042A:p.G5014G",NA,NA,NA,NA,NA,NA
chr14,105408549,105408549,G,T,R007_S,AHNAK2,Silent,NM_001350929,exon7,c.C12939A,p.P4313P,SNP,SNVindel,exonic,AHNAK2,NA,synonymous SNV,"AHNAK2:NM_001350929:exon7:c.C12939A:p.P4313P,AHNAK2:NM_138420:exon7:c.C13239A:p.P4413P",NA,NA,NA,NA,NA,NA
chr14,105421082,105421082,C,T,R007_S,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.G406A,p.D136N,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.G406A:p.D136N,AHNAK2:NM_138420:exon7:c.G706A:p.D236N",T,U,N,T,N,T
chr14,105452784,105452784,G,A,R007_S,CLBA1,Missense_Mutation,NM_001364170,exon1,c.G16A,p.E6K,SNP,SNVindel,exonic,CLBA1,NA,nonsynonymous SNV,"CLBA1:NM_001364170:exon1:c.G16A:p.E6K,CLBA1:NM_174891:exon1:c.G16A:p.E6K",D,N,N,.,N,T
chr14,105684086,105684086,C,T,R007_S,BRF1,Missense_Mutation,NM_001242789,exon10,c.G853A,p.E285K,SNP,SNVindel,exonic,BRF1,NA,nonsynonymous SNV,"BRF1:NM_001242789:exon10:c.G853A:p.E285K,BRF1:NM_145685:exon11:c.G955A:p.E319K,BRF1:NM_001242788:exon14:c.G1486A:p.E496K,BRF1:NM_001242786:exon15:c.G1288A:p.E430K,BRF1:NM_001242787:exon15:c.G1222A:p.E408K,BRF1:NM_001519:exon15:c.G1567A:p.E523K",D,D,D,.,D,D
chr14,105693030,105693030,C,T,R007_S,BRF1,Missense_Mutation,NM_001242789,exon3,c.G142A,p.E48K,SNP,SNVindel,exonic,BRF1,NA,nonsynonymous SNV,"BRF1:NM_001242789:exon3:c.G142A:p.E48K,BRF1:NM_145685:exon4:c.G244A:p.E82K,BRF1:NM_001242788:exon7:c.G775A:p.E259K,BRF1:NM_001242786:exon8:c.G511A:p.E171K,BRF1:NM_001242787:exon8:c.G511A:p.E171K,BRF1:NM_001519:exon8:c.G856A:p.E286K",D,D,D,.,D,D
chr14,105715719,105715719,C,T,R007_S,BTBD6,Missense_Mutation,NM_033271,exon4,c.C329T,p.S110F,SNP,SNVindel,exonic,BTBD6,NA,nonsynonymous SNV,BTBD6:NM_033271:exon4:c.C329T:p.S110F,D,D,D,T,D,T
chr14,105851261,105851261,C,T,R007_S,PACS2,Missense_Mutation,NM_001100913,exon18,c.C1937T,p.A646V,SNP,SNVindel,exonic,PACS2,NA,nonsynonymous SNV,"PACS2:NM_001100913:exon18:c.C1937T:p.A646V,PACS2:NM_001243127:exon18:c.C1700T:p.A567V,PACS2:NM_015197:exon18:c.C1925T:p.A642V",T,N,N,T,N,T
chr14,105936409,105936409,C,T,R007_S,MTA1,Missense_Mutation,NM_004689,exon21,c.C2005T,p.R669C,SNP,SNVindel,exonic,MTA1,NA,nonsynonymous SNV,MTA1:NM_004689:exon21:c.C2005T:p.R669C,D,D,D,T,D,D
chr15,23062313,23062313,G,A,R007_S,NIPA1,Missense_Mutation,NM_144599,exon2,c.C185T,p.S62F,SNP,SNVindel,exonic,NIPA1,NA,nonsynonymous SNV,NIPA1:NM_144599:exon2:c.C185T:p.S62F,.,.,.,.,.,.
chr15,25963414,25963414,G,A,R007_S,ATP10A,Missense_Mutation,NM_024490,exon8,c.C1496T,p.T499I,SNP,SNVindel,exonic,ATP10A,NA,nonsynonymous SNV,ATP10A:NM_024490:exon8:c.C1496T:p.T499I,T,N,D,T,N,T
chr15,28260023,28260023,G,A,R007_S,OCA2,Missense_Mutation,NM_000275,exon9,c.C943T,p.P315S,SNP,SNVindel,exonic,OCA2,NA,nonsynonymous SNV,"OCA2:NM_000275:exon9:c.C943T:p.P315S,OCA2:NM_001300984:exon9:c.C943T:p.P315S",T,D,D,D,D,D
chr15,28357045,28357045,G,A,R007_S,HERC2,Missense_Mutation,NM_004667,exon93,c.C14369T,p.S4790F,SNP,SNVindel,exonic,HERC2,NA,nonsynonymous SNV,HERC2:NM_004667:exon93:c.C14369T:p.S4790F,D,D,D,T,D,T
chr15,28513684,28513684,C,T,R007_S,HERC2,Missense_Mutation,NM_004667,exon12,c.G1525A,p.A509T,SNP,SNVindel,exonic,HERC2,NA,nonsynonymous SNV,HERC2:NM_004667:exon12:c.G1525A:p.A509T,D,D,D,D,D,D
chr15,30919030,30919030,G,A,R007_S,ARHGAP11B,Missense_Mutation,NM_001039841,exon1,c.G7A,p.D3N,SNP,SNVindel,exonic,ARHGAP11B,NA,nonsynonymous SNV,ARHGAP11B:NM_001039841:exon1:c.G7A:p.D3N,D,U,N,T,N,T
chr15,31339427,31339427,T,C,R007_S,TRPM1,Missense_Mutation,NM_001252020,exon14,c.A1702G,p.S568G,SNP,SNVindel,exonic,TRPM1,NA,nonsynonymous SNV,"TRPM1:NM_001252020:exon14:c.A1702G:p.S568G,TRPM1:NM_002420:exon14:c.A1585G:p.S529G,TRPM1:NM_001252024:exon15:c.A1651G:p.S551G",D,D,D,T,D,T
chr15,31795963,31795963,G,A,R007_S,OTUD7A,Silent,NM_001329907,exon10,c.C952T,p.L318L,SNP,SNVindel,exonic,OTUD7A,NA,synonymous SNV,"OTUD7A:NM_001329907:exon10:c.C952T:p.L318L,OTUD7A:NM_130901:exon10:c.C931T:p.L311L",NA,NA,NA,NA,NA,NA
chr15,34130244,34130244,G,A,R007_S,RYR3,Silent,NM_001243996,exon88,c.G12048A,p.V4016V,SNP,SNVindel,exonic,RYR3,NA,synonymous SNV,"RYR3:NM_001243996:exon88:c.G12048A:p.V4016V,RYR3:NM_001036:exon89:c.G12063A:p.V4021V",NA,NA,NA,NA,NA,NA
chr15,34355473,34355473,C,T,R007_S,CHRM5,Silent,NM_001320917,exon2,c.C555T,p.I185I,SNP,SNVindel,exonic,CHRM5,NA,synonymous SNV,"CHRM5:NM_001320917:exon2:c.C555T:p.I185I,CHRM5:NM_012125:exon3:c.C555T:p.I185I",NA,NA,NA,NA,NA,NA
chr15,34395668,34395668,C,T,R007_S,PGBD4,Silent,NM_152595,exon1,c.C936T,p.R312R,SNP,SNVindel,exonic,PGBD4,NA,synonymous SNV,PGBD4:NM_152595:exon1:c.C936T:p.R312R,NA,NA,NA,NA,NA,NA
chr15,34646020,34646020,C,T,R007_S,NUTM1,Missense_Mutation,NM_001284293,exon4,c.C992T,p.P331L,SNP,SNVindel,exonic,NUTM1,NA,nonsynonymous SNV,"NUTM1:NM_001284293:exon4:c.C992T:p.P331L,NUTM1:NM_001284292:exon5:c.C1022T:p.P341L,NUTM1:NM_175741:exon5:c.C938T:p.P313L",D,N,N,T,D,T
chr15,35085707,35085707,C,T,R007_S,ACTC1,Missense_Mutation,NM_005159,exon3,c.G193A,p.G65S,SNP,SNVindel,exonic,ACTC1,NA,nonsynonymous SNV,ACTC1:NM_005159:exon3:c.G193A:p.G65S,.,U,D,D,D,D
chr15,39880412,39880412,C,T,R007_S,THBS1,Silent,NM_003246,exon9,c.C1464T,p.A488A,SNP,SNVindel,exonic,THBS1,NA,synonymous SNV,THBS1:NM_003246:exon9:c.C1464T:p.A488A,NA,NA,NA,NA,NA,NA
chr15,40318178,40318178,G,A,R007_S,EIF2AK4,Missense_Mutation,NM_001013703,exon33,c.G4390A,p.V1464I,SNP,SNVindel,exonic,EIF2AK4,NA,nonsynonymous SNV,EIF2AK4:NM_001013703:exon33:c.G4390A:p.V1464I,T,D,D,D,N,D
chr15,40558181,40558181,G,A,R007_S,BUB1B-PAK6,Missense_Mutation,NM_001276717,exon3,c.G343A,p.G115R,SNP,SNVindel,exonic,BUB1B-PAK6;PAK6,NA,nonsynonymous SNV,"PAK6:NM_001276717:exon3:c.G343A:p.G115R,BUB1B-PAK6:NM_001128629:exon4:c.G343A:p.G115R,BUB1B-PAK6:NM_001128628:exon5:c.G343A:p.G115R,PAK6:NM_001276718:exon5:c.G343A:p.G115R,PAK6:NM_020168:exon5:c.G343A:p.G115R",D,D,D,T,D,D
chr15,40585761,40585761,C,T,R007_S,PLCB2,Silent,NM_001284297,exon20,c.G2214A,p.K738K,SNP,SNVindel,exonic,PLCB2,NA,synonymous SNV,"PLCB2:NM_001284297:exon20:c.G2214A:p.K738K,PLCB2:NM_001284298:exon20:c.G2226A:p.K742K,PLCB2:NM_004573:exon20:c.G2226A:p.K742K",NA,NA,NA,NA,NA,NA
chr15,40916392,40916392,C,T,R007_S,KNL1,Silent,NM_144508,exon10,c.C3930T,p.S1310S,SNP,SNVindel,exonic,KNL1,NA,synonymous SNV,"KNL1:NM_144508:exon10:c.C3930T:p.S1310S,KNL1:NM_170589:exon11:c.C4008T:p.S1336S",NA,NA,NA,NA,NA,NA
chr15,40944203,40944203,C,T,R007_S,KNL1,Silent,NM_144508,exon21,c.C6315T,p.S2105S,SNP,SNVindel,exonic,KNL1,NA,synonymous SNV,"KNL1:NM_144508:exon21:c.C6315T:p.S2105S,KNL1:NM_170589:exon22:c.C6393T:p.S2131S",NA,NA,NA,NA,NA,NA
chr15,41226762,41226762,C,T,R007_S,DLL4,Silent,NM_019074,exon7,c.C867T,p.T289T,SNP,SNVindel,exonic,DLL4,NA,synonymous SNV,DLL4:NM_019074:exon7:c.C867T:p.T289T,NA,NA,NA,NA,NA,NA
chr15,41308295,41308295,G,A,R007_S,INO80,Silent,NM_017553,exon27,c.C3393T,p.D1131D,SNP,SNVindel,exonic,INO80,NA,synonymous SNV,INO80:NM_017553:exon27:c.C3393T:p.D1131D,NA,NA,NA,NA,NA,NA
chr15,41794287,41794287,C,T,R007_S,ITPKA,Missense_Mutation,NM_002220,exon4,c.C896T,p.A299V,SNP,SNVindel,exonic,ITPKA,NA,nonsynonymous SNV,ITPKA:NM_002220:exon4:c.C896T:p.A299V,D,D,D,T,D,T
chr15,41961612,41961612,G,A,R007_S,MGA,Missense_Mutation,NM_001080541,exon2,c.G520A,p.V174I,SNP,SNVindel,exonic,MGA,NA,nonsynonymous SNV,"MGA:NM_001080541:exon2:c.G520A:p.V174I,MGA:NM_001164273:exon2:c.G520A:p.V174I",T,D,D,D,N,D
chr15,42040918,42040918,C,T,R007_S,MGA,Missense_Mutation,NM_001080541,exon15,c.C4669T,p.P1557S,SNP,SNVindel,exonic,MGA,NA,nonsynonymous SNV,"MGA:NM_001080541:exon15:c.C4669T:p.P1557S,MGA:NM_001164273:exon16:c.C5296T:p.P1766S",D,.,D,D,D,T
chr15,42041657,42041657,G,A,R007_S,MGA,Missense_Mutation,NM_001080541,exon16,c.G5225A,p.G1742E,SNP,SNVindel,exonic,MGA,NA,nonsynonymous SNV,"MGA:NM_001080541:exon16:c.G5225A:p.G1742E,MGA:NM_001164273:exon17:c.G5852A:p.G1951E",D,D,D,T,D,T
chr15,42106903,42106903,C,T,R007_S,MAPKBP1,Missense_Mutation,NM_001265611,exon10,c.C1136T,p.A379V,SNP,SNVindel,exonic,MAPKBP1,NA,nonsynonymous SNV,"MAPKBP1:NM_001265611:exon10:c.C1136T:p.A379V,MAPKBP1:NM_014994:exon10:c.C1136T:p.A379V,MAPKBP1:NM_001128608:exon11:c.C1154T:p.A385V",T,D,D,T,N,T
chr15,42160671,42160671,G,A,R007_S,SPTBN5,Silent,NM_016642,exon33,c.C5982T,p.A1994A,SNP,SNVindel,exonic,SPTBN5,NA,synonymous SNV,SPTBN5:NM_016642:exon33:c.C5982T:p.A1994A,NA,NA,NA,NA,NA,NA
chr15,42264677,42264677,C,T,R007_S,EHD4,Missense_Mutation,NM_139265,exon1,c.G16A,p.G6R,SNP,SNVindel,exonic,EHD4,NA,nonsynonymous SNV,EHD4:NM_139265:exon1:c.G16A:p.G6R,T,N,D,T,N,T
chr15,42276024,42276024,C,T,R007_S,PLA2G4E,Silent,NM_001206670,exon20,c.G2535A,p.K845K,SNP,SNVindel,exonic,PLA2G4E,NA,synonymous SNV,PLA2G4E:NM_001206670:exon20:c.G2535A:p.K845K,NA,NA,NA,NA,NA,NA
chr15,42981824,42981824,G,A,R007_S,STARD9,Missense_Mutation,NM_020759,exon23,c.G8048A,p.R2683K,SNP,SNVindel,exonic,STARD9,NA,nonsynonymous SNV,STARD9:NM_020759:exon23:c.G8048A:p.R2683K,T,N,N,T,N,T
chr15,42988003,42988003,C,T,R007_S,STARD9,Silent,NM_020759,exon26,c.C13209T,p.S4403S,SNP,SNVindel,exonic,STARD9,NA,synonymous SNV,STARD9:NM_020759:exon26:c.C13209T:p.S4403S,NA,NA,NA,NA,NA,NA
chr15,43018335,43018335,C,T,R007_S,CDAN1,Silent,NM_138477,exon25,c.G3228A,p.Q1076Q,SNP,SNVindel,exonic,CDAN1,NA,synonymous SNV,CDAN1:NM_138477:exon25:c.G3228A:p.Q1076Q,NA,NA,NA,NA,NA,NA
chr15,43299468,43299468,C,T,R007_S,UBR1,Missense_Mutation,NM_174916,exon30,c.G3224A,p.S1075N,SNP,SNVindel,exonic,UBR1,NA,nonsynonymous SNV,UBR1:NM_174916:exon30:c.G3224A:p.S1075N,T,N,D,T,N,T
chr15,43499552,43499552,G,A,R007_S,EPB42,Missense_Mutation,NM_000119,exon9,c.C1253T,p.A418V,SNP,SNVindel,exonic,EPB42,NA,nonsynonymous SNV,"EPB42:NM_000119:exon9:c.C1253T:p.A418V,EPB42:NM_001114134:exon9:c.C1163T:p.A388V",T,N,N,T,N,T
chr15,43500517,43500517,G,A,R007_S,EPB42,Missense_Mutation,NM_000119,exon8,c.C1076T,p.S359F,SNP,SNVindel,exonic,EPB42,NA,nonsynonymous SNV,"EPB42:NM_000119:exon8:c.C1076T:p.S359F,EPB42:NM_001114134:exon8:c.C986T:p.S329F",T,D,D,T,N,T
chr15,43508520,43508520,G,A,R007_S,EPB42,Missense_Mutation,NM_000119,exon2,c.C232T,p.P78S,SNP,SNVindel,exonic,EPB42,NA,nonsynonymous SNV,"EPB42:NM_000119:exon2:c.C232T:p.P78S,EPB42:NM_001114134:exon2:c.C142T:p.P48S",D,N,N,D,D,T
chr15,43533181,43533181,C,T,R007_S,TGM5,Silent,NM_004245,exon6,c.G624A,p.R208R,SNP,SNVindel,exonic,TGM5,NA,synonymous SNV,"TGM5:NM_004245:exon6:c.G624A:p.R208R,TGM5:NM_201631:exon7:c.G870A:p.R290R",NA,NA,NA,NA,NA,NA
chr15,43724795,43724795,C,T,R007_S,TP53BP1,Missense_Mutation,NM_001141979,exon17,c.G3272A,p.S1091N,SNP,SNVindel,exonic,TP53BP1,NA,nonsynonymous SNV,"TP53BP1:NM_001141979:exon17:c.G3272A:p.S1091N,TP53BP1:NM_001141980:exon17:c.G3272A:p.S1091N,TP53BP1:NM_005657:exon17:c.G3257A:p.S1086N,TP53BP1:NM_001355001:exon18:c.G392A:p.S131N",T,N,N,T,N,T
chr15,43769809,43769809,C,T,R007_S,TP53BP1,Missense_Mutation,NM_001141979,exon8,c.G937A,p.D313N,SNP,SNVindel,exonic,TP53BP1,NA,nonsynonymous SNV,"TP53BP1:NM_001141979:exon8:c.G937A:p.D313N,TP53BP1:NM_001141980:exon8:c.G937A:p.D313N,TP53BP1:NM_005657:exon8:c.G922A:p.D308N",D,N,D,T,N,T
chr15,44097640,44097640,C,T,R007_S,MFAP1,Silent,NM_005926,exon8,c.G1071A,p.K357K,SNP,SNVindel,exonic,MFAP1,NA,synonymous SNV,MFAP1:NM_005926:exon8:c.G1071A:p.K357K,NA,NA,NA,NA,NA,NA
chr15,44829434,44829434,G,A,R007_S,EIF3J,Nonsense_Mutation,NM_001284335,exon1,c.G42A,p.W14X,SNP,SNVindel,exonic,EIF3J,NA,stopgain,"EIF3J:NM_001284335:exon1:c.G42A:p.W14X,EIF3J:NM_001284336:exon1:c.G42A:p.W14X,EIF3J:NM_003758:exon1:c.G42A:p.W14X",.,N,A,.,.,.
chr15,44952735,44952735,G,A,R007_S,SPG11,Silent,NM_001160227,exon2,c.C337T,p.L113L,SNP,SNVindel,exonic,SPG11,NA,synonymous SNV,"SPG11:NM_001160227:exon2:c.C337T:p.L113L,SPG11:NM_025137:exon2:c.C337T:p.L113L",NA,NA,NA,NA,NA,NA
chr15,45388087,45388087,G,A,R007_S,DUOX2,Missense_Mutation,NM_001363711,exon30,c.C4019T,p.T1340I,SNP,SNVindel,exonic,DUOX2,NA,nonsynonymous SNV,"DUOX2:NM_001363711:exon30:c.C4019T:p.T1340I,DUOX2:NM_014080:exon30:c.C4019T:p.T1340I",D,D,D,T,D,D
chr15,45410211,45410211,C,T,R007_S,DUOXA1,Missense_Mutation,NM_001276265,exon6,c.G913A,p.A305T,SNP,SNVindel,exonic,DUOXA1,NA,nonsynonymous SNV,"DUOXA1:NM_001276265:exon6:c.G913A:p.A305T,DUOXA1:NM_001276264:exon10:c.G1048A:p.A350T,DUOXA1:NM_144565:exon10:c.G1048A:p.A350T",T,N,N,T,N,T
chr15,45412438,45412438,G,A,R007_S,DUOXA1,Missense_Mutation,NM_001276265,exon4,c.C500T,p.A167V,SNP,SNVindel,exonic,DUOXA1,NA,nonsynonymous SNV,"DUOXA1:NM_001276265:exon4:c.C500T:p.A167V,DUOXA1:NM_001276266:exon5:c.C635T:p.A212V,DUOXA1:NM_001276268:exon5:c.C500T:p.A167V,DUOXA1:NM_001276264:exon8:c.C635T:p.A212V,DUOXA1:NM_001276267:exon8:c.C500T:p.A167V,DUOXA1:NM_144565:exon8:c.C635T:p.A212V",T,N,D,T,N,T
chr15,45454133,45454133,G,A,R007_S,DUOX1,Missense_Mutation,NM_175940,exon30,c.G4054A,p.A1352T,SNP,SNVindel,exonic,DUOX1,NA,nonsynonymous SNV,"DUOX1:NM_175940:exon30:c.G4054A:p.A1352T,DUOX1:NM_017434:exon31:c.G4054A:p.A1352T",T,N,N,D,N,T
chr15,45694648,45694648,C,T,R007_S,SPATA5L1,Silent,NM_001323640,exon1,c.C21T,p.P7P,SNP,SNVindel,exonic,SPATA5L1,NA,synonymous SNV,"SPATA5L1:NM_001323640:exon1:c.C21T:p.P7P,SPATA5L1:NM_024063:exon1:c.C21T:p.P7P",NA,NA,NA,NA,NA,NA
chr15,48443342,48443342,C,T,R007_S,MYEF2,Missense_Mutation,NM_016132,exon14,c.G1333A,p.G445R,SNP,SNVindel,exonic,MYEF2,NA,nonsynonymous SNV,MYEF2:NM_016132:exon14:c.G1333A:p.G445R,T,D,D,T,N,T
chr15,48543812,48543812,G,A,R007_S,SLC12A1,Missense_Mutation,NM_000338,exon15,c.G1787A,p.G596E,SNP,SNVindel,exonic,SLC12A1,NA,nonsynonymous SNV,"SLC12A1:NM_000338:exon15:c.G1787A:p.G596E,SLC12A1:NM_001184832:exon15:c.G1787A:p.G596E",D,D,D,D,D,D
chr15,48707782,48707782,C,T,R007_S,FBN1,Missense_Mutation,NM_000138,exon64,c.G8002A,p.G2668S,SNP,SNVindel,exonic,FBN1,NA,nonsynonymous SNV,FBN1:NM_000138:exon64:c.G8002A:p.G2668S,T,D,D,D,D,D
chr15,48726871,48726871,C,T,R007_S,FBN1,Missense_Mutation,NM_000138,exon54,c.G6536A,p.G2179E,SNP,SNVindel,exonic,FBN1,NA,nonsynonymous SNV,FBN1:NM_000138:exon54:c.G6536A:p.G2179E,D,D,D,D,D,D
chr15,48800841,48800841,C,T,R007_S,FBN1,Missense_Mutation,NM_000138,exon15,c.G1775A,p.G592D,SNP,SNVindel,exonic,FBN1,NA,nonsynonymous SNV,FBN1:NM_000138:exon15:c.G1775A:p.G592D,D,D,D,T,D,D
chr15,49293149,49293149,C,T,R007_S,SECISBP2L,Missense_Mutation,NM_014701,exon14,c.G2038A,p.V680I,SNP,SNVindel,exonic,SECISBP2L,NA,nonsynonymous SNV,"SECISBP2L:NM_014701:exon14:c.G2038A:p.V680I,SECISBP2L:NM_001193489:exon15:c.G2173A:p.V725I",D,D,D,T,N,T
chr15,49327653,49327653,C,T,R007_S,SECISBP2L,Missense_Mutation,NM_001193489,exon3,c.G406A,p.A136T,SNP,SNVindel,exonic,SECISBP2L,NA,nonsynonymous SNV,"SECISBP2L:NM_001193489:exon3:c.G406A:p.A136T,SECISBP2L:NM_014701:exon3:c.G406A:p.A136T",T,N,D,T,N,T
chr15,50209135,50209135,G,A,R007_S,ATP8B4,Missense_Mutation,NM_024837,exon20,c.C2137T,p.L713F,SNP,SNVindel,exonic,ATP8B4,NA,nonsynonymous SNV,ATP8B4:NM_024837:exon20:c.C2137T:p.L713F,D,N,D,T,D,T
chr15,50331022,50331022,C,T,R007_S,ATP8B4,Missense_Mutation,NM_024837,exon6,c.G305A,p.R102H,SNP,SNVindel,exonic,ATP8B4,NA,nonsynonymous SNV,ATP8B4:NM_024837:exon6:c.G305A:p.R102H,D,D,D,D,D,D
chr15,50535399,50535399,C,T,R007_S,HDC,Missense_Mutation,NM_001306146,exon10,c.G1084A,p.D362N,SNP,SNVindel,exonic,HDC,NA,nonsynonymous SNV,"HDC:NM_001306146:exon10:c.G1084A:p.D362N,HDC:NM_002112:exon11:c.G1183A:p.D395N",T,D,D,T,D,T
chr15,51693821,51693821,C,T,R007_S,GLDN,Silent,NM_001330297,exon9,c.C687T,p.P229P,SNP,SNVindel,exonic,GLDN,NA,synonymous SNV,"GLDN:NM_001330297:exon9:c.C687T:p.P229P,GLDN:NM_181789:exon9:c.C1059T:p.P353P",NA,NA,NA,NA,NA,NA
chr15,51773550,51773550,G,A,R007_S,DMXL2,Missense_Mutation,NM_001174117,exon22,c.C3845T,p.S1282F,SNP,SNVindel,exonic,DMXL2,NA,nonsynonymous SNV,"DMXL2:NM_001174117:exon22:c.C3845T:p.S1282F,DMXL2:NM_001174116:exon24:c.C5753T:p.S1918F,DMXL2:NM_015263:exon24:c.C5753T:p.S1918F",T,N,N,T,N,T
chr15,51791679,51791679,G,A,R007_S,DMXL2,Silent,NM_001174116,exon18,c.C3742T,p.L1248L,SNP,SNVindel,exonic,DMXL2,NA,synonymous SNV,"DMXL2:NM_001174116:exon18:c.C3742T:p.L1248L,DMXL2:NM_015263:exon18:c.C3742T:p.L1248L",NA,NA,NA,NA,NA,NA
chr15,52258382,52258382,C,T,R007_S,LEO1,Silent,NM_001286430,exon2,c.G378A,p.G126G,SNP,SNVindel,exonic,LEO1,NA,synonymous SNV,"LEO1:NM_001286430:exon2:c.G378A:p.G126G,LEO1:NM_001323903:exon2:c.G378A:p.G126G,LEO1:NM_001323904:exon2:c.G378A:p.G126G,LEO1:NM_138792:exon2:c.G378A:p.G126G",NA,NA,NA,NA,NA,NA
chr15,52548894,52548894,C,T,R007_S,MYO5C,Missense_Mutation,NM_018728,exon11,c.G1337A,p.S446N,SNP,SNVindel,exonic,MYO5C,NA,nonsynonymous SNV,MYO5C:NM_018728:exon11:c.G1337A:p.S446N,D,D,D,D,D,D
chr15,53998215,53998215,G,A,R007_S,WDR72,Silent,NM_182758,exon10,c.C1011T,p.Y337Y,SNP,SNVindel,exonic,WDR72,NA,synonymous SNV,WDR72:NM_182758:exon10:c.C1011T:p.Y337Y,NA,NA,NA,NA,NA,NA
chr15,54307064,54307064,C,T,R007_S,UNC13C,Missense_Mutation,NM_001080534,exon1,c.C1964T,p.S655F,SNP,SNVindel,exonic,UNC13C,NA,nonsynonymous SNV,"UNC13C:NM_001080534:exon1:c.C1964T:p.S655F,UNC13C:NM_001329919:exon2:c.C1964T:p.S655F",D,.,D,D,N,D
chr15,54542482,54542482,C,T,R007_S,UNC13C,Silent,NM_001080534,exon6,c.C3288T,p.I1096I,SNP,SNVindel,exonic,UNC13C,NA,synonymous SNV,"UNC13C:NM_001080534:exon6:c.C3288T:p.I1096I,UNC13C:NM_001329919:exon7:c.C3282T:p.I1094I",NA,NA,NA,NA,NA,NA
chr15,54556465,54556465,C,T,R007_S,UNC13C,Missense_Mutation,NM_001080534,exon7,c.C3548T,p.P1183L,SNP,SNVindel,exonic,UNC13C,NA,nonsynonymous SNV,"UNC13C:NM_001080534:exon7:c.C3548T:p.P1183L,UNC13C:NM_001329919:exon8:c.C3542T:p.P1181L",D,D,D,T,D,D
chr15,59179294,59179294,C,T,R007_S,SLTM,Silent,NM_001013843,exon19,c.G2661A,p.G887G,SNP,SNVindel,exonic,SLTM,NA,synonymous SNV,"SLTM:NM_001013843:exon19:c.G2661A:p.G887G,SLTM:NM_024755:exon19:c.G2715A:p.G905G",NA,NA,NA,NA,NA,NA
chr15,62205583,62205583,G,A,R007_S,VPS13C,Missense_Mutation,NM_017684,exon60,c.C8348T,p.S2783F,SNP,SNVindel,exonic,VPS13C,NA,nonsynonymous SNV,"VPS13C:NM_017684:exon60:c.C8348T:p.S2783F,VPS13C:NM_018080:exon60:c.C8348T:p.S2783F,VPS13C:NM_001018088:exon62:c.C8477T:p.S2826F,VPS13C:NM_020821:exon62:c.C8477T:p.S2826F",D,D,D,T,D,T
chr15,63548733,63548733,C,T,R007_S,RAB8B,Silent,NM_016530,exon5,c.C354T,p.I118I,SNP,SNVindel,exonic,RAB8B,NA,synonymous SNV,RAB8B:NM_016530:exon5:c.C354T:p.I118I,NA,NA,NA,NA,NA,NA
chr15,64021470,64021470,C,T,R007_S,HERC1,Missense_Mutation,NM_003922,exon16,c.G3119A,p.S1040N,SNP,SNVindel,exonic,HERC1,NA,nonsynonymous SNV,HERC1:NM_003922:exon16:c.G3119A:p.S1040N,D,U,D,T,N,T
chr15,64046769,64046769,C,T,R007_S,HERC1,Missense_Mutation,NM_003922,exon7,c.G1709A,p.S570N,SNP,SNVindel,exonic,HERC1,NA,nonsynonymous SNV,HERC1:NM_003922:exon7:c.G1709A:p.S570N,D,U,D,D,N,D
chr15,64452332,64452332,C,T,R007_S,PPIB,Missense_Mutation,NM_000942,exon3,c.G314A,p.G105E,SNP,SNVindel,exonic,PPIB,NA,nonsynonymous SNV,PPIB:NM_000942:exon3:c.G314A:p.G105E,D,D,D,T,D,D
chr15,64747212,64747212,G,A,R007_S,TRIP4,Silent,NM_001321924,exon13,c.G1005A,p.K335K,SNP,SNVindel,exonic,TRIP4,NA,synonymous SNV,"TRIP4:NM_001321924:exon13:c.G1005A:p.K335K,TRIP4:NM_016213:exon13:c.G1695A:p.K565K",NA,NA,NA,NA,NA,NA
chr15,65223688,65223688,G,A,R007_S,ANKDD1A,Missense_Mutation,NM_182703,exon8,c.G673A,p.G225S,SNP,SNVindel,exonic,ANKDD1A,NA,nonsynonymous SNV,ANKDD1A:NM_182703:exon8:c.G673A:p.G225S,D,D,D,T,D,D
chr15,65496862,65496862,G,A,R007_S,CILP,Silent,NM_003613,exon6,c.C663T,p.C221C,SNP,SNVindel,exonic,CILP,NA,synonymous SNV,CILP:NM_003613:exon6:c.C663T:p.C221C,NA,NA,NA,NA,NA,NA
chr15,65823019,65823019,G,A,R007_S,HACD3,Missense_Mutation,NM_016395,exon1,c.G50A,p.R17H,SNP,SNVindel,exonic,HACD3,NA,nonsynonymous SNV,HACD3:NM_016395:exon1:c.G50A:p.R17H,T,N,D,T,N,T
chr15,65888131,65888131,C,T,R007_S,INTS14,Missense_Mutation,NM_001207059,exon6,c.G544A,p.D182N,SNP,SNVindel,exonic,INTS14,NA,nonsynonymous SNV,"INTS14:NM_001207059:exon6:c.G544A:p.D182N,INTS14:NM_001136043:exon7:c.G544A:p.D182N,INTS14:NM_001207058:exon7:c.G634A:p.D212N,INTS14:NM_001366360:exon7:c.G781A:p.D261N,INTS14:NM_001366364:exon7:c.G544A:p.D182N,INTS14:NM_001366365:exon7:c.G544A:p.D182N",D,D,D,.,D,D
chr15,65899526,65899526,G,A,R007_S,INTS14,Missense_Mutation,NM_001366360,exon2,c.C193T,p.P65S,SNP,SNVindel,exonic,INTS14,NA,nonsynonymous SNV,INTS14:NM_001366360:exon2:c.C193T:p.P65S,T,D,D,T,D,T
chr15,65964179,65964179,G,A,R007_S,DENND4A,Missense_Mutation,NM_005848,exon24,c.C4283T,p.S1428F,SNP,SNVindel,exonic,DENND4A,NA,nonsynonymous SNV,"DENND4A:NM_005848:exon24:c.C4283T:p.S1428F,DENND4A:NM_001144823:exon25:c.C4412T:p.S1471F,DENND4A:NM_001320835:exon25:c.C4415T:p.S1472F",D,N,D,T,D,T
chr15,66777485,66777485,C,T,R007_S,MAP2K1,Missense_Mutation,NM_002755,exon7,c.C851T,p.A284V,SNP,SNVindel,exonic,MAP2K1,NA,nonsynonymous SNV,MAP2K1:NM_002755:exon7:c.C851T:p.A284V,T,N,D,T,N,T
chr15,67457640,67457640,C,T,R007_S,SMAD3,Silent,NM_001145102,exon3,c.C135T,p.F45F,SNP,SNVindel,exonic,SMAD3,NA,synonymous SNV,"SMAD3:NM_001145102:exon3:c.C135T:p.F45F,SMAD3:NM_001145103:exon3:c.C318T:p.F106F,SMAD3:NM_005902:exon3:c.C450T:p.F150F",NA,NA,NA,NA,NA,NA
chr15,68119243,68119243,C,T,R007_S,SKOR1,Silent,NM_001365915,exon2,c.C1077T,p.G359G,SNP,SNVindel,exonic,SKOR1,NA,synonymous SNV,SKOR1:NM_001365915:exon2:c.C1077T:p.G359G,NA,NA,NA,NA,NA,NA
chr15,69548448,69548448,G,A,R007_S,GLCE,Silent,NM_001324091,exon3,c.G303A,p.G101G,SNP,SNVindel,exonic,GLCE,NA,synonymous SNV,"GLCE:NM_001324091:exon3:c.G303A:p.G101G,GLCE:NM_015554:exon3:c.G303A:p.G101G,GLCE:NM_001324093:exon4:c.G303A:p.G101G,GLCE:NM_001324094:exon4:c.G303A:p.G101G",NA,NA,NA,NA,NA,NA
chr15,69682083,69682083,A,G,R007_S,PAQR5,Missense_Mutation,NM_001104554,exon6,c.A476G,p.N159S,SNP,SNVindel,exonic,PAQR5,NA,nonsynonymous SNV,"PAQR5:NM_001104554:exon6:c.A476G:p.N159S,PAQR5:NM_017705:exon6:c.A476G:p.N159S",T,D,D,T,D,T
chr15,70960884,70960884,C,T,R007_S,UACA,Silent,NM_001008224,exon16,c.G2100A,p.Q700Q,SNP,SNVindel,exonic,UACA,NA,synonymous SNV,"UACA:NM_001008224:exon16:c.G2100A:p.Q700Q,UACA:NM_018003:exon16:c.G2139A:p.Q713Q",NA,NA,NA,NA,NA,NA
chr15,71124667,71124667,C,T,R007_S,LARP6,Silent,NM_001286679,exon3,c.G648A,p.E216E,SNP,SNVindel,exonic,LARP6,NA,synonymous SNV,"LARP6:NM_001286679:exon3:c.G648A:p.E216E,LARP6:NM_018357:exon3:c.G1200A:p.E400E",NA,NA,NA,NA,NA,NA
chr15,71535113,71535113,G,A,R007_S,THSD4,Missense_Mutation,NM_024817,exon4,c.G590A,p.R197H,SNP,SNVindel,exonic,THSD4,NA,nonsynonymous SNV,THSD4:NM_024817:exon4:c.G590A:p.R197H,T,N,N,T,N,T
chr15,72190009,72190009,C,T,R007_S,MYO9A,Missense_Mutation,NM_006901,exon25,c.G4835A,p.C1612Y,SNP,SNVindel,exonic,MYO9A,NA,nonsynonymous SNV,MYO9A:NM_006901:exon25:c.G4835A:p.C1612Y,T,.,N,D,N,T
chr15,72668199,72668199,G,A,R007_S,HEXA,Missense_Mutation,NM_000520,exon1,c.C115T,p.L39F,SNP,SNVindel,exonic,HEXA,NA,nonsynonymous SNV,"HEXA:NM_000520:exon1:c.C115T:p.L39F,HEXA:NM_001318825:exon1:c.C115T:p.L39F",D,N,N,D,D,T
chr15,72958179,72958179,G,A,R007_S,GOLGA6B,Missense_Mutation,NM_018652,exon16,c.G1753A,p.E585K,SNP,SNVindel,exonic,GOLGA6B,NA,nonsynonymous SNV,GOLGA6B:NM_018652:exon16:c.G1753A:p.E585K,T,.,N,T,N,T
chr15,73616239,73616239,C,T,R007_S,HCN4,Missense_Mutation,NM_005477,exon8,c.G2195A,p.G732D,SNP,SNVindel,exonic,HCN4,NA,nonsynonymous SNV,HCN4:NM_005477:exon8:c.G2195A:p.G732D,D,.,D,D,D,D
chr15,74328224,74328224,C,T,R007_S,PML,Missense_Mutation,NM_033250,exon7,c.C2278T,p.P760S,SNP,SNVindel,exonic,PML,NA,nonsynonymous SNV,"PML:NM_033250:exon7:c.C2278T:p.P760S,PML:NM_033239:exon8:c.C2422T:p.P808S",T,.,N,.,N,T
chr15,74560695,74560695,G,A,R007_S,CCDC33,Missense_Mutation,NM_025055,exon5,c.G442A,p.G148R,SNP,SNVindel,exonic,CCDC33,NA,nonsynonymous SNV,CCDC33:NM_025055:exon5:c.G442A:p.G148R,T,N,N,T,N,T
chr15,75094730,75094730,G,A,R007_S,CSK,Missense_Mutation,NM_004383,exon13,c.G1229A,p.G410D,SNP,SNVindel,exonic,CSK,NA,nonsynonymous SNV,"CSK:NM_004383:exon13:c.G1229A:p.G410D,CSK:NM_001127190:exon14:c.G1229A:p.G410D,CSK:NM_001354988:exon15:c.G1229A:p.G410D",T,N,D,D,D,T
chr15,75132645,75132645,C,T,R007_S,ULK3,Missense_Mutation,NM_001099436,exon6,c.G626A,p.G209E,SNP,SNVindel,exonic,ULK3,NA,nonsynonymous SNV,"ULK3:NM_001099436:exon6:c.G626A:p.G209E,ULK3:NM_001284364:exon6:c.G626A:p.G209E,ULK3:NM_001284365:exon6:c.G275A:p.G92E",D,.,D,T,D,T
chr15,75651994,75651994,C,T,R007_S,MAN2C1,Missense_Mutation,NM_001256496,exon14,c.G1618A,p.A540T,SNP,SNVindel,exonic,MAN2C1,NA,nonsynonymous SNV,"MAN2C1:NM_001256496:exon14:c.G1618A:p.A540T,MAN2C1:NM_001256494:exon16:c.G1915A:p.A639T,MAN2C1:NM_001256495:exon16:c.G1915A:p.A639T,MAN2C1:NM_006715:exon16:c.G1915A:p.A639T",T,N,N,T,N,T
chr15,75722552,75722552,C,T,R007_S,SIN3A,Silent,NM_001145357,exon2,c.G165A,p.Q55Q,SNP,SNVindel,exonic,SIN3A,NA,synonymous SNV,"SIN3A:NM_001145357:exon2:c.G165A:p.Q55Q,SIN3A:NM_001145358:exon2:c.G165A:p.Q55Q,SIN3A:NM_015477:exon2:c.G165A:p.Q55Q",NA,NA,NA,NA,NA,NA
chr15,75968975,75968975,C,T,R007_S,CSPG4,Missense_Mutation,NM_001897,exon10,c.G5885A,p.S1962N,SNP,SNVindel,exonic,CSPG4,NA,nonsynonymous SNV,CSPG4:NM_001897:exon10:c.G5885A:p.S1962N,T,N,N,T,N,T
chr15,75975003,75975003,G,A,R007_S,CSPG4,Silent,NM_001897,exon7,c.C4728T,p.A1576A,SNP,SNVindel,exonic,CSPG4,NA,synonymous SNV,CSPG4:NM_001897:exon7:c.C4728T:p.A1576A,NA,NA,NA,NA,NA,NA
chr15,75977784,75977784,C,T,R007_S,CSPG4,Missense_Mutation,NM_001897,exon4,c.G4048A,p.E1350K,SNP,SNVindel,exonic,CSPG4,NA,nonsynonymous SNV,CSPG4:NM_001897:exon4:c.G4048A:p.E1350K,T,N,N,T,N,T
chr15,76248322,76248322,G,A,R007_S,NRG4,Silent,NM_138573,exon5,c.C282T,p.V94V,SNP,SNVindel,exonic,NRG4,NA,synonymous SNV,NRG4:NM_138573:exon5:c.C282T:p.V94V,NA,NA,NA,NA,NA,NA
chr15,77906689,77906689,G,A,R007_S,LINGO1,Silent,NM_032808,exon2,c.C1560T,p.D520D,SNP,SNVindel,exonic,LINGO1,NA,synonymous SNV,"LINGO1:NM_032808:exon2:c.C1560T:p.D520D,LINGO1:NM_001301198:exon3:c.C1542T:p.D514D,LINGO1:NM_001301194:exon4:c.C1542T:p.D514D,LINGO1:NM_001301195:exon4:c.C1542T:p.D514D,LINGO1:NM_001301197:exon4:c.C1542T:p.D514D,LINGO1:NM_001301199:exon4:c.C1542T:p.D514D,LINGO1:NM_001301200:exon4:c.C1542T:p.D514D,LINGO1:NM_001301192:exon5:c.C1542T:p.D514D,LINGO1:NM_001301186:exon6:c.C1542T:p.D514D,LINGO1:NM_001301187:exon6:c.C1542T:p.D514D,LINGO1:NM_001301189:exon6:c.C1542T:p.D514D,LINGO1:NM_001301191:exon6:c.C1542T:p.D514D",NA,NA,NA,NA,NA,NA
chr15,79080664,79080664,G,A,R007_S,ADAMTS7,Nonsense_Mutation,NM_014272,exon8,c.C1231T,p.R411X,SNP,SNVindel,exonic,ADAMTS7,NA,stopgain,ADAMTS7:NM_014272:exon8:c.C1231T:p.R411X,.,D,A,.,.,.
chr15,79290453,79290453,G,A,R007_S,RASGRF1,Missense_Mutation,NM_153815,exon6,c.C647T,p.A216V,SNP,SNVindel,exonic,RASGRF1,NA,nonsynonymous SNV,"RASGRF1:NM_153815:exon6:c.C647T:p.A216V,RASGRF1:NM_001145648:exon19:c.C2951T:p.A984V,RASGRF1:NM_002891:exon20:c.C2999T:p.A1000V",T,D,D,T,N,T
chr15,79703813,79703813,C,T,R007_S,TMED3,Silent,NM_001330376,exon3,c.C489T,p.A163A,SNP,SNVindel,exonic,TMED3,NA,synonymous SNV,TMED3:NM_001330376:exon3:c.C489T:p.A163A,NA,NA,NA,NA,NA,NA
chr15,81176576,81176576,G,A,R007_S,CEMIP,Silent,NM_018689,exon6,c.G678A,p.V226V,SNP,SNVindel,exonic,CEMIP,NA,synonymous SNV,"CEMIP:NM_018689:exon6:c.G678A:p.V226V,CEMIP:NM_001293298:exon7:c.G678A:p.V226V,CEMIP:NM_001293304:exon7:c.G678A:p.V226V",NA,NA,NA,NA,NA,NA
chr15,81294840,81294840,G,A,R007_S,TLNRD1,Silent,NM_022566,exon1,c.G228A,p.E76E,SNP,SNVindel,exonic,TLNRD1,NA,synonymous SNV,TLNRD1:NM_022566:exon1:c.G228A:p.E76E,NA,NA,NA,NA,NA,NA
chr15,81294875,81294875,G,A,R007_S,TLNRD1,Missense_Mutation,NM_022566,exon1,c.G263A,p.G88E,SNP,SNVindel,exonic,TLNRD1,NA,nonsynonymous SNV,TLNRD1:NM_022566:exon1:c.G263A:p.G88E,T,U,D,T,N,T
chr15,81430456,81430456,G,A,R007_S,CFAP161,Missense_Mutation,NM_001353365,exon4,c.G457A,p.G153R,SNP,SNVindel,exonic,CFAP161,NA,nonsynonymous SNV,"CFAP161:NM_001353365:exon4:c.G457A:p.G153R,CFAP161:NM_173528:exon4:c.G457A:p.G153R",T,N,N,T,N,T
chr15,81592737,81592737,C,T,R007_S,IL16,Missense_Mutation,NM_004513,exon2,c.C967T,p.P323S,SNP,SNVindel,exonic,IL16,NA,nonsynonymous SNV,"IL16:NM_004513:exon2:c.C967T:p.P323S,IL16:NM_001172128:exon14:c.C3070T:p.P1024S,IL16:NM_001352686:exon14:c.C3223T:p.P1075S,IL16:NM_172217:exon14:c.C3070T:p.P1024S,IL16:NM_001352684:exon15:c.C1240T:p.P414S,IL16:NM_001352685:exon15:c.C2560T:p.P854S",T,N,N,T,N,T
chr15,81627315,81627315,G,A,R007_S,TMC3,Silent,NM_001080532,exon21,c.C2205T,p.A735A,SNP,SNVindel,exonic,TMC3,NA,synonymous SNV,TMC3:NM_001080532:exon21:c.C2205T:p.A735A,NA,NA,NA,NA,NA,NA
chr15,82338015,82338015,C,T,R007_S,MEX3B,Missense_Mutation,NM_032246,exon1,c.G32A,p.R11H,SNP,SNVindel,exonic,MEX3B,NA,nonsynonymous SNV,MEX3B:NM_032246:exon1:c.G32A:p.R11H,T,N,D,T,N,T
chr15,82512152,82512152,C,T,R007_S,EFL1,Silent,NM_001040610,exon12,c.G1299A,p.E433E,SNP,SNVindel,exonic,EFL1,NA,synonymous SNV,"EFL1:NM_001040610:exon12:c.G1299A:p.E433E,EFL1:NM_001322844:exon13:c.G663A:p.E221E,EFL1:NM_001322845:exon14:c.G1452A:p.E484E,EFL1:NM_024580:exon14:c.G1452A:p.E484E",NA,NA,NA,NA,NA,NA
chr15,83455797,83455797,C,T,R007_S,FSD2,Missense_Mutation,NM_001007122,exon2,c.G346A,p.E116K,SNP,SNVindel,exonic,FSD2,NA,nonsynonymous SNV,"FSD2:NM_001007122:exon2:c.G346A:p.E116K,FSD2:NM_001281806:exon2:c.G346A:p.E116K,FSD2:NM_001281805:exon3:c.G346A:p.E116K",T,N,N,T,N,T
chr15,84566694,84566694,C,T,R007_S,ADAMTSL3,Missense_Mutation,NM_001301110,exon14,c.C1552T,p.P518S,SNP,SNVindel,exonic,ADAMTSL3,NA,nonsynonymous SNV,"ADAMTSL3:NM_001301110:exon14:c.C1552T:p.P518S,ADAMTSL3:NM_207517:exon14:c.C1552T:p.P518S",T,N,D,T,D,T
chr15,85326593,85326593,C,T,R007_S,ZNF592,Silent,NM_014630,exon4,c.C687T,p.H229H,SNP,SNVindel,exonic,ZNF592,NA,synonymous SNV,ZNF592:NM_014630:exon4:c.C687T:p.H229H,NA,NA,NA,NA,NA,NA
chr15,85433700,85433700,C,T,R007_S,SLC28A1,Missense_Mutation,NM_001287761,exon4,c.C212T,p.A71V,SNP,SNVindel,exonic,SLC28A1,NA,nonsynonymous SNV,"SLC28A1:NM_001287761:exon4:c.C212T:p.A71V,SLC28A1:NM_001287762:exon4:c.C212T:p.A71V,SLC28A1:NM_001321721:exon5:c.C212T:p.A71V,SLC28A1:NM_001321722:exon5:c.C212T:p.A71V,SLC28A1:NM_004213:exon5:c.C212T:p.A71V,SLC28A1:NM_201651:exon5:c.C212T:p.A71V",T,N,N,T,N,T
chr15,85467223,85467223,C,T,R007_S,SLC28A1,Missense_Mutation,NM_001287761,exon11,c.C965T,p.A322V,SNP,SNVindel,exonic,SLC28A1,NA,nonsynonymous SNV,"SLC28A1:NM_001287761:exon11:c.C965T:p.A322V,SLC28A1:NM_001287762:exon11:c.C965T:p.A322V,SLC28A1:NM_001321721:exon12:c.C965T:p.A322V,SLC28A1:NM_001321722:exon12:c.C965T:p.A322V,SLC28A1:NM_004213:exon12:c.C965T:p.A322V",T,D,D,T,D,T
chr15,86118391,86118391,G,A,R007_S,AKAP13,Missense_Mutation,NM_006738,exon6,c.G692A,p.S231N,SNP,SNVindel,exonic,AKAP13,NA,nonsynonymous SNV,"AKAP13:NM_006738:exon6:c.G692A:p.S231N,AKAP13:NM_007200:exon6:c.G692A:p.S231N",D,.,N,T,N,T
chr15,89198659,89198659,G,A,R007_S,ISG20,Missense_Mutation,NM_001303235,exon3,c.G410A,p.G137E,SNP,SNVindel,exonic,ISG20,NA,nonsynonymous SNV,"ISG20:NM_001303235:exon3:c.G410A:p.G137E,ISG20:NM_001303233:exon4:c.G443A:p.G148E,ISG20:NM_001303236:exon4:c.G410A:p.G137E,ISG20:NM_001303237:exon4:c.G383A:p.G128E,ISG20:NM_002201:exon4:c.G443A:p.G148E,ISG20:NM_001303234:exon5:c.G443A:p.G148E",T,D,N,T,D,T
chr15,89386853,89386853,C,T,R007_S,ACAN,Missense_Mutation,NM_001135,exon6,c.C1025T,p.S342F,SNP,SNVindel,exonic,ACAN,NA,nonsynonymous SNV,"ACAN:NM_001135:exon6:c.C1025T:p.S342F,ACAN:NM_001369268:exon6:c.C1025T:p.S342F,ACAN:NM_013227:exon6:c.C1025T:p.S342F",D,N,D,T,D,T
chr15,89391161,89391161,C,T,R007_S,ACAN,Missense_Mutation,NM_001135,exon9,c.C1624T,p.R542W,SNP,SNVindel,exonic,ACAN,NA,nonsynonymous SNV,"ACAN:NM_001135:exon9:c.C1624T:p.R542W,ACAN:NM_001369268:exon9:c.C1624T:p.R542W,ACAN:NM_013227:exon9:c.C1624T:p.R542W",D,.,D,T,D,T
chr15,89400504,89400504,G,A,R007_S,ACAN,Missense_Mutation,NM_001135,exon12,c.G4688A,p.G1563E,SNP,SNVindel,exonic,ACAN,NA,nonsynonymous SNV,"ACAN:NM_001135:exon12:c.G4688A:p.G1563E,ACAN:NM_001369268:exon12:c.G4688A:p.G1563E,ACAN:NM_013227:exon12:c.G4688A:p.G1563E",D,N,N,D,D,T
chr15,89436329,89436329,C,T,R007_S,HAPLN3,Silent,NM_001307952,exon2,c.G15A,p.R5R,SNP,SNVindel,exonic,HAPLN3,NA,synonymous SNV,HAPLN3:NM_001307952:exon2:c.G15A:p.R5R,NA,NA,NA,NA,NA,NA
chr15,89442725,89442725,C,T,R007_S,MFGE8,Silent,NM_001114614,exon7,c.G909A,p.K303K,SNP,SNVindel,exonic,MFGE8,NA,synonymous SNV,"MFGE8:NM_001114614:exon7:c.G909A:p.K303K,MFGE8:NM_001310319:exon7:c.G933A:p.K311K,MFGE8:NM_001310321:exon8:c.G729A:p.K243K,MFGE8:NM_005928:exon8:c.G1065A:p.K355K,MFGE8:NM_001310320:exon9:c.G1041A:p.K347K",NA,NA,NA,NA,NA,NA
chr15,89858519,89858519,C,T,R007_S,FANCI,Silent,NM_018193,exon36,c.C3643T,p.L1215L,SNP,SNVindel,exonic,FANCI,NA,synonymous SNV,"FANCI:NM_018193:exon36:c.C3643T:p.L1215L,FANCI:NM_001113378:exon37:c.C3823T:p.L1275L",NA,NA,NA,NA,NA,NA
chr15,90137732,90137732,G,A,R007_S,TICRR,Missense_Mutation,NM_001308025,exon6,c.G1625A,p.R542K,SNP,SNVindel,exonic,TICRR,NA,nonsynonymous SNV,"TICRR:NM_001308025:exon6:c.G1625A:p.R542K,TICRR:NM_152259:exon6:c.G1628A:p.R543K",T,N,N,T,N,T
chr15,90274677,90274677,C,T,R007_S,WDR93,Missense_Mutation,NM_001284395,exon12,c.C1214T,p.P405L,SNP,SNVindel,exonic,WDR93,NA,nonsynonymous SNV,"WDR93:NM_001284395:exon12:c.C1214T:p.P405L,WDR93:NM_020212:exon12:c.C1214T:p.P405L",D,N,N,T,D,T
chr15,90321544,90321544,C,T,R007_S,MESP2,Silent,NM_001039958,exon2,c.C1173T,p.A391A,SNP,SNVindel,exonic,MESP2,NA,synonymous SNV,MESP2:NM_001039958:exon2:c.C1173T:p.A391A,NA,NA,NA,NA,NA,NA
chr15,90335455,90335455,C,T,R007_S,ANPEP,Missense_Mutation,NM_001150,exon18,c.G2464A,p.V822I,SNP,SNVindel,exonic,ANPEP,NA,nonsynonymous SNV,ANPEP:NM_001150:exon18:c.G2464A:p.V822I,T,D,D,T,N,T
chr15,90628276,90628276,G,A,R007_S,IDH2,Silent,NM_001290114,exon7,c.C745T,p.L249L,SNP,SNVindel,exonic,IDH2,NA,synonymous SNV,"IDH2:NM_001290114:exon7:c.C745T:p.L249L,IDH2:NM_001289910:exon9:c.C979T:p.L327L,IDH2:NM_002168:exon9:c.C1135T:p.L379L",NA,NA,NA,NA,NA,NA
chr15,91020987,91020987,G,A,R007_S,IQGAP1,Silent,NM_003870,exon26,c.G3195A,p.Q1065Q,SNP,SNVindel,exonic,IQGAP1,NA,synonymous SNV,IQGAP1:NM_003870:exon26:c.G3195A:p.Q1065Q,NA,NA,NA,NA,NA,NA
chr15,91424968,91424968,G,A,R007_S,FURIN,Missense_Mutation,NM_001289823,exon16,c.G2245A,p.V749M,SNP,SNVindel,exonic,FURIN,NA,nonsynonymous SNV,"FURIN:NM_001289823:exon16:c.G2245A:p.V749M,FURIN:NM_001289824:exon16:c.G2245A:p.V749M,FURIN:NM_002569:exon16:c.G2245A:p.V749M",D,D,D,T,N,T
chr15,91448852,91448852,G,A,R007_S,MAN2A2,Missense_Mutation,NM_006122,exon4,c.G434A,p.G145D,SNP,SNVindel,exonic,MAN2A2,NA,nonsynonymous SNV,"MAN2A2:NM_006122:exon4:c.G434A:p.G145D,MAN2A2:NM_001320977:exon5:c.G434A:p.G145D",D,D,D,T,D,T
chr15,91453885,91453885,G,A,R007_S,MAN2A2,Missense_Mutation,NM_006122,exon11,c.G1732A,p.E578K,SNP,SNVindel,exonic,MAN2A2,NA,nonsynonymous SNV,"MAN2A2:NM_006122:exon11:c.G1732A:p.E578K,MAN2A2:NM_001320977:exon12:c.G1732A:p.E578K",D,D,D,T,D,D
chr15,91496169,91496169,C,A,R007_S,UNC45A,Missense_Mutation,NM_001323620,exon18,c.C1879A,p.L627M,SNP,SNVindel,exonic,UNC45A,NA,nonsynonymous SNV,"UNC45A:NM_001323620:exon18:c.C1879A:p.L627M,UNC45A:NM_001323621:exon18:c.C2269A:p.L757M,UNC45A:NM_018671:exon18:c.C2314A:p.L772M,UNC45A:NM_001323619:exon19:c.C2314A:p.L772M,UNC45A:NM_001039675:exon21:c.C2269A:p.L757M",D,N,N,T,N,T
chr15,91795103,91795103,C,T,R007_S,SV2B,Missense_Mutation,NM_001167580,exon2,c.C53T,p.A18V,SNP,SNVindel,exonic,SV2B,NA,nonsynonymous SNV,"SV2B:NM_001167580:exon2:c.C53T:p.A18V,SV2B:NM_001323036:exon2:c.C77T:p.A26V,SV2B:NM_001323031:exon3:c.C506T:p.A169V,SV2B:NM_001323032:exon3:c.C506T:p.A169V,SV2B:NM_001323034:exon3:c.C506T:p.A169V,SV2B:NM_001323038:exon3:c.C506T:p.A169V,SV2B:NM_001323039:exon3:c.C506T:p.A169V,SV2B:NM_001323040:exon3:c.C53T:p.A18V,SV2B:NM_001323037:exon4:c.C506T:p.A169V,SV2B:NM_014848:exon4:c.C506T:p.A169V",D,D,D,T,D,T
chr15,92706273,92706273,G,A,R007_S,SLCO3A1,Missense_Mutation,NM_013272,exon10,c.G2041A,p.D681N,SNP,SNVindel,exonic,SLCO3A1,NA,nonsynonymous SNV,SLCO3A1:NM_013272:exon10:c.G2041A:p.D681N,T,N,D,T,N,T
chr15,92988033,92988033,G,A,R007_S,ST8SIA2,Nonsense_Mutation,NM_001330416,exon4,c.G653A,p.W218X,SNP,SNVindel,exonic,ST8SIA2,NA,stopgain,"ST8SIA2:NM_001330416:exon4:c.G653A:p.W218X,ST8SIA2:NM_006011:exon5:c.G716A:p.W239X",.,D,A,.,.,.
chr15,93588459,93588459,G,A,R007_S,RGMA,Silent,NM_001166286,exon3,c.C1074T,p.Y358Y,SNP,SNVindel,exonic,RGMA,NA,synonymous SNV,"RGMA:NM_001166286:exon3:c.C1074T:p.Y358Y,RGMA:NM_001166283:exon4:c.C1146T:p.Y382Y,RGMA:NM_001166287:exon4:c.C1074T:p.Y358Y,RGMA:NM_001166288:exon4:c.C1074T:p.Y358Y,RGMA:NM_001166289:exon4:c.C1074T:p.Y358Y,RGMA:NM_020211:exon4:c.C1122T:p.Y374Y",NA,NA,NA,NA,NA,NA
chr15,93588849,93588849,C,T,R007_S,RGMA,Silent,NM_001166286,exon3,c.G684A,p.V228V,SNP,SNVindel,exonic,RGMA,NA,synonymous SNV,"RGMA:NM_001166286:exon3:c.G684A:p.V228V,RGMA:NM_001166283:exon4:c.G756A:p.V252V,RGMA:NM_001166287:exon4:c.G684A:p.V228V,RGMA:NM_001166288:exon4:c.G684A:p.V228V,RGMA:NM_001166289:exon4:c.G684A:p.V228V,RGMA:NM_020211:exon4:c.G732A:p.V244V",NA,NA,NA,NA,NA,NA
chr15,99500381,99500381,C,T,R007_S,IGF1R,Missense_Mutation,NM_000875,exon21,c.C3814T,p.P1272S,SNP,SNVindel,exonic,IGF1R,NA,nonsynonymous SNV,"IGF1R:NM_000875:exon21:c.C3814T:p.P1272S,IGF1R:NM_001291858:exon21:c.C3811T:p.P1271S",T,N,D,T,D,T
chr15,99512682,99512682,C,T,R007_S,PGPEP1L,Missense_Mutation,NM_001102612,exon4,c.G343A,p.D115N,SNP,SNVindel,exonic,PGPEP1L,NA,nonsynonymous SNV,"PGPEP1L:NM_001102612:exon4:c.G343A:p.D115N,PGPEP1L:NM_001167902:exon4:c.G181A:p.D61N",T,N,N,T,N,T
chr15,99670882,99670882,G,A,R007_S,SYNM,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SYNM,NA,unknown,UNKNOWN,T,.,N,T,N,T
chr15,99671387,99671387,C,T,R007_S,SYNM,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SYNM,NA,unknown,UNKNOWN,T,.,N,T,N,T
chr15,99671868,99671868,C,T,R007_S,SYNM,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SYNM,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr15,99671900,99671900,C,T,R007_S,SYNM,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SYNM,NA,unknown,UNKNOWN,T,.,N,T,N,T
chr15,100211770,100211770,G,A,R007_S,MEF2A,Missense_Mutation,NM_001365202,exon4,c.G304A,p.D102N,SNP,SNVindel,exonic,MEF2A,NA,nonsynonymous SNV,"MEF2A:NM_001365202:exon4:c.G304A:p.D102N,MEF2A:NM_001365204:exon4:c.G304A:p.D102N,MEF2A:NM_001365206:exon4:c.G304A:p.D102N,MEF2A:NM_001365207:exon4:c.G304A:p.D102N,MEF2A:NM_001352617:exon5:c.G304A:p.D102N,MEF2A:NM_001352618:exon5:c.G304A:p.D102N,MEF2A:NM_001365201:exon5:c.G304A:p.D102N,MEF2A:NM_001365203:exon5:c.G304A:p.D102N,MEF2A:NM_001365210:exon5:c.G304A:p.D102N,MEF2A:NM_005587:exon5:c.G304A:p.D102N",D,D,D,T,D,T
chr15,100594216,100594216,C,T,R007_S,ADAMTS17,Silent,NM_139057,exon16,c.G2181A,p.K727K,SNP,SNVindel,exonic,ADAMTS17,NA,synonymous SNV,ADAMTS17:NM_139057:exon16:c.G2181A:p.K727K,NA,NA,NA,NA,NA,NA
chr15,100649257,100649257,C,T,R007_S,ADAMTS17,Silent,NM_139057,exon14,c.G1953A,p.R651R,SNP,SNVindel,exonic,ADAMTS17,NA,synonymous SNV,ADAMTS17:NM_139057:exon14:c.G1953A:p.R651R,NA,NA,NA,NA,NA,NA
chr15,101562639,101562639,A,T,R007_S,LRRK1,Missense_Mutation,NM_024652,exon15,c.A1904T,p.K635M,SNP,SNVindel,exonic,LRRK1,NA,nonsynonymous SNV,LRRK1:NM_024652:exon15:c.A1904T:p.K635M,D,N,N,T,N,T
chr15,101565043,101565043,G,A,R007_S,LRRK1,Silent,NM_024652,exon16,c.G2103A,p.G701G,SNP,SNVindel,exonic,LRRK1,NA,synonymous SNV,LRRK1:NM_024652:exon16:c.G2103A:p.G701G,NA,NA,NA,NA,NA,NA
chr15,101814700,101814700,C,T,R007_S,SELENOS,Missense_Mutation,NM_203472,exon5,c.G409A,p.E137K,SNP,SNVindel,exonic,SELENOS,NA,nonsynonymous SNV,SELENOS:NM_203472:exon5:c.G409A:p.E137K,T,N,D,.,N,T
chr16,133066,133066,C,T,R007_S,MPG,Missense_Mutation,NM_001015052,exon3,c.C316T,p.L106F,SNP,SNVindel,exonic,MPG,NA,nonsynonymous SNV,"MPG:NM_001015052:exon3:c.C316T:p.L106F,MPG:NM_001015054:exon3:c.C280T:p.L94F,MPG:NM_002434:exon4:c.C331T:p.L111F",D,D,D,T,D,T
chr16,320612,320612,C,T,R007_S,RGS11,Silent,NM_001286486,exon13,c.G564A,p.R188R,SNP,SNVindel,exonic,RGS11,NA,synonymous SNV,"RGS11:NM_001286486:exon13:c.G564A:p.R188R,RGS11:NM_001286485:exon14:c.G1083A:p.R361R,RGS11:NM_003834:exon15:c.G1053A:p.R351R,RGS11:NM_183337:exon15:c.G1116A:p.R372R",NA,NA,NA,NA,NA,NA
chr16,334661,334661,C,T,R007_S,PDIA2,Missense_Mutation,NM_006849,exon3,c.C409T,p.P137S,SNP,SNVindel,exonic,PDIA2,NA,nonsynonymous SNV,PDIA2:NM_006849:exon3:c.C409T:p.P137S,D,N,N,T,N,T
chr16,335161,335161,C,T,R007_S,PDIA2,Silent,NM_006849,exon5,c.C756T,p.V252V,SNP,SNVindel,exonic,PDIA2,NA,synonymous SNV,PDIA2:NM_006849:exon5:c.C756T:p.V252V,NA,NA,NA,NA,NA,NA
chr16,338208,338208,C,T,R007_S,AXIN1,Missense_Mutation,NM_181050,exon10,c.G2395A,p.V799M,SNP,SNVindel,exonic,AXIN1,NA,nonsynonymous SNV,"AXIN1:NM_181050:exon10:c.G2395A:p.V799M,AXIN1:NM_003502:exon11:c.G2503A:p.V835M",D,D,D,T,N,T
chr16,343617,343617,G,A,R007_S,AXIN1,Missense_Mutation,NM_003502,exon8,c.C2057T,p.S686F,SNP,SNVindel,exonic,AXIN1,NA,nonsynonymous SNV,"AXIN1:NM_003502:exon8:c.C2057T:p.S686F,AXIN1:NM_181050:exon8:c.C2057T:p.S686F",D,D,D,T,D,T
chr16,424242,424242,G,A,R007_S,TMEM8A,Silent,NM_021259,exon10,c.C1734T,p.A578A,SNP,SNVindel,exonic,TMEM8A,NA,synonymous SNV,TMEM8A:NM_021259:exon10:c.C1734T:p.A578A,NA,NA,NA,NA,NA,NA
chr16,425252,425252,G,A,R007_S,TMEM8A,Silent,NM_021259,exon8,c.C1320T,p.F440F,SNP,SNVindel,exonic,TMEM8A,NA,synonymous SNV,TMEM8A:NM_021259:exon8:c.C1320T:p.F440F,NA,NA,NA,NA,NA,NA
chr16,602096,602096,G,A,R007_S,CAPN15,Silent,NM_005632,exon10,c.G2391A,p.Q797Q,SNP,SNVindel,exonic,CAPN15,NA,synonymous SNV,CAPN15:NM_005632:exon10:c.G2391A:p.Q797Q,NA,NA,NA,NA,NA,NA
chr16,705664,705664,C,T,R007_S,WDR90,Missense_Mutation,NM_145294,exon16,c.C1810T,p.P604S,SNP,SNVindel,exonic,WDR90,NA,nonsynonymous SNV,WDR90:NM_145294:exon16:c.C1810T:p.P604S,T,U,N,T,N,T
chr16,728038,728038,C,T,R007_S,RHBDL1,Missense_Mutation,NM_001278721,exon7,c.C883T,p.P295S,SNP,SNVindel,exonic,RHBDL1,NA,nonsynonymous SNV,"RHBDL1:NM_001278721:exon7:c.C883T:p.P295S,RHBDL1:NM_001318733:exon7:c.C1303T:p.P435S,RHBDL1:NM_001278720:exon8:c.C1108T:p.P370S",D,D,D,T,N,T
chr16,816738,816738,C,T,R007_S,MSLN,Missense_Mutation,NM_013404,exon13,c.C1325T,p.T442I,SNP,SNVindel,exonic,MSLN,NA,nonsynonymous SNV,"MSLN:NM_013404:exon13:c.C1325T:p.T442I,MSLN:NM_001177355:exon14:c.C1301T:p.T434I,MSLN:NM_005823:exon14:c.C1301T:p.T434I",T,N,N,T,N,T
chr16,841869,841869,C,T,R007_S,CHTF18,Missense_Mutation,NM_022092,exon9,c.C1123T,p.P375S,SNP,SNVindel,exonic,CHTF18,NA,nonsynonymous SNV,CHTF18:NM_022092:exon9:c.C1123T:p.P375S,D,D,D,T,D,T
chr16,842504,842504,C,T,R007_S,CHTF18,Silent,NM_022092,exon11,c.C1392T,p.G464G,SNP,SNVindel,exonic,CHTF18,NA,synonymous SNV,CHTF18:NM_022092:exon11:c.C1392T:p.G464G,NA,NA,NA,NA,NA,NA
chr16,1254345,1254345,G,A,R007_S,CACNA1H,Missense_Mutation,NM_001005407,exon10,c.G2338A,p.V780I,SNP,SNVindel,exonic,CACNA1H,NA,nonsynonymous SNV,"CACNA1H:NM_001005407:exon10:c.G2338A:p.V780I,CACNA1H:NM_021098:exon10:c.G2338A:p.V780I",T,N,N,D,N,T
chr16,1260124,1260124,C,T,R007_S,CACNA1H,Silent,NM_001005407,exon18,c.C3834T,p.S1278S,SNP,SNVindel,exonic,CACNA1H,NA,synonymous SNV,"CACNA1H:NM_001005407:exon18:c.C3834T:p.S1278S,CACNA1H:NM_021098:exon18:c.C3834T:p.S1278S",NA,NA,NA,NA,NA,NA
chr16,1268357,1268357,G,A,R007_S,CACNA1H,Missense_Mutation,NM_001005407,exon32,c.G5575A,p.E1859K,SNP,SNVindel,exonic,CACNA1H,NA,nonsynonymous SNV,"CACNA1H:NM_001005407:exon32:c.G5575A:p.E1859K,CACNA1H:NM_021098:exon33:c.G5593A:p.E1865K",D,D,D,D,D,D
chr16,1398105,1398105,C,T,R007_S,BAIAP3,Missense_Mutation,NM_001199096,exon32,c.C3050T,p.P1017L,SNP,SNVindel,exonic,BAIAP3,NA,nonsynonymous SNV,"BAIAP3:NM_001199096:exon32:c.C3050T:p.P1017L,BAIAP3:NM_001199097:exon33:c.C3158T:p.P1053L,BAIAP3:NM_001199098:exon33:c.C3089T:p.P1030L,BAIAP3:NM_001199099:exon33:c.C3074T:p.P1025L,BAIAP3:NM_001286464:exon33:c.C3209T:p.P1070L,BAIAP3:NM_003933:exon33:c.C3263T:p.P1088L",T,N,D,T,D,T
chr16,1417134,1417134,G,A,R007_S,UNKL,Silent,NM_001276414,exon5,c.C493T,p.L165L,SNP,SNVindel,exonic,UNKL,NA,synonymous SNV,"UNKL:NM_001276414:exon5:c.C493T:p.L165L,UNKL:NM_001367622:exon5:c.C502T:p.L168L,UNKL:NM_001370526:exon5:c.C502T:p.L168L",NA,NA,NA,NA,NA,NA
chr16,1537708,1537708,C,T,R007_S,PTX4,Silent,NM_001013658,exon2,c.G390A,p.Q130Q,SNP,SNVindel,exonic,PTX4,NA,synonymous SNV,"PTX4:NM_001013658:exon2:c.G390A:p.Q130Q,PTX4:NM_001328608:exon2:c.G405A:p.Q135Q",NA,NA,NA,NA,NA,NA
chr16,1811270,1811270,G,A,R007_S,MAPK8IP3,Silent,NM_001040439,exon12,c.G1482A,p.E494E,SNP,SNVindel,exonic,MAPK8IP3,NA,synonymous SNV,"MAPK8IP3:NM_001040439:exon12:c.G1482A:p.E494E,MAPK8IP3:NM_001318852:exon13:c.G1503A:p.E501E,MAPK8IP3:NM_015133:exon13:c.G1500A:p.E500E",NA,NA,NA,NA,NA,NA
chr16,1841951,1841951,G,A,R007_S,IGFALS,Silent,NM_001146006,exon2,c.C582T,p.N194N,SNP,SNVindel,exonic,IGFALS,NA,synonymous SNV,"IGFALS:NM_001146006:exon2:c.C582T:p.N194N,IGFALS:NM_004970:exon2:c.C468T:p.N156N",NA,NA,NA,NA,NA,NA
chr16,1867198,1867198,C,T,R007_S,HAGH,Nonsense_Mutation,NM_001286249,exon5,c.G507A,p.W169X,SNP,SNVindel,exonic,HAGH,NA,stopgain,HAGH:NM_001286249:exon5:c.G507A:p.W169X,T,D,A,T,N,T
chr16,1918165,1918165,G,A,R007_S,MEIOB,Silent,NM_001163560,exon2,c.C12T,p.S4S,SNP,SNVindel,exonic,MEIOB,NA,synonymous SNV,"MEIOB:NM_001163560:exon2:c.C12T:p.S4S,MEIOB:NM_152764:exon2:c.C12T:p.S4S",NA,NA,NA,NA,NA,NA
chr16,1961806,1961806,C,T,R007_S,HS3ST6,Missense_Mutation,NM_001009606,exon2,c.G814A,p.V272I,SNP,SNVindel,exonic,HS3ST6,NA,nonsynonymous SNV,HS3ST6:NM_001009606:exon2:c.G814A:p.V272I,T,D,D,D,N,T
chr16,1994868,1994868,C,T,R007_S,RPL3L,Silent,NM_005061,exon10,c.G1194A,p.K398K,SNP,SNVindel,exonic,RPL3L,NA,synonymous SNV,RPL3L:NM_005061:exon10:c.G1194A:p.K398K,NA,NA,NA,NA,NA,NA
chr16,2004108,2004108,G,A,R007_S,RPL3L,Silent,NM_005061,exon2,c.C45T,p.G15G,SNP,SNVindel,exonic,RPL3L,NA,synonymous SNV,RPL3L:NM_005061:exon2:c.C45T:p.G15G,NA,NA,NA,NA,NA,NA
chr16,2018468,2018468,T,C,R007_S,RNF151,Missense_Mutation,NM_174903,exon4,c.T280C,p.C94R,SNP,SNVindel,exonic,RNF151,NA,nonsynonymous SNV,RNF151:NM_174903:exon4:c.T280C:p.C94R,D,N,D,T,D,T
chr16,2104395,2104395,C,T,R007_S,TSC2,Silent,NM_001318827,exon4,c.C324T,p.A108A,SNP,SNVindel,exonic,TSC2,NA,synonymous SNV,"TSC2:NM_001318827:exon4:c.C324T:p.A108A,TSC2:NM_001318829:exon4:c.C288T:p.A96A,TSC2:NM_000548:exon5:c.C435T:p.A145A,TSC2:NM_001077183:exon5:c.C435T:p.A145A,TSC2:NM_001114382:exon5:c.C435T:p.A145A,TSC2:NM_001318832:exon5:c.C468T:p.A156A,TSC2:NM_001363528:exon5:c.C435T:p.A145A,TSC2:NM_001370404:exon5:c.C435T:p.A145A,TSC2:NM_001370405:exon5:c.C435T:p.A145A,TSC2:NM_021055:exon5:c.C435T:p.A145A",NA,NA,NA,NA,NA,NA
chr16,2136760,2136760,C,T,R007_S,TSC2,Missense_Mutation,NM_001318831,exon34,c.C4145T,p.P1382L,SNP,SNVindel,exonic,TSC2,NA,nonsynonymous SNV,"TSC2:NM_001318831:exon34:c.C4145T:p.P1382L,TSC2:NM_001318827:exon35:c.C4568T:p.P1523L,TSC2:NM_001318829:exon35:c.C4532T:p.P1511L,TSC2:NM_001077183:exon36:c.C4676T:p.P1559L,TSC2:NM_001318832:exon36:c.C4709T:p.P1570L,TSC2:NM_001363528:exon36:c.C4679T:p.P1560L,TSC2:NM_001114382:exon37:c.C4808T:p.P1603L,TSC2:NM_001370404:exon37:c.C4745T:p.P1582L,TSC2:NM_001370405:exon37:c.C4748T:p.P1583L,TSC2:NM_021055:exon37:c.C4748T:p.P1583L,TSC2:NM_000548:exon38:c.C4877T:p.P1626L",D,D,D,D,D,D
chr16,2284939,2284939,C,T,R007_S,E4F1,Silent,NM_001288778,exon10,c.C1341T,p.D447D,SNP,SNVindel,exonic,E4F1,NA,synonymous SNV,"E4F1:NM_001288778:exon10:c.C1341T:p.D447D,E4F1:NM_001288776:exon12:c.C1872T:p.D624D,E4F1:NM_004424:exon12:c.C1872T:p.D624D",NA,NA,NA,NA,NA,NA
chr16,2350148,2350148,G,A,R007_S,ABCA3,Missense_Mutation,NM_001089,exon13,c.C1469T,p.P490L,SNP,SNVindel,exonic,ABCA3,NA,nonsynonymous SNV,ABCA3:NM_001089:exon13:c.C1469T:p.P490L,T,D,D,T,D,T
chr16,2505503,2505503,G,A,R007_S,CCNF,Missense_Mutation,NM_001323538,exon15,c.G899A,p.S300N,SNP,SNVindel,exonic,CCNF,NA,nonsynonymous SNV,"CCNF:NM_001323538:exon15:c.G899A:p.S300N,CCNF:NM_001761:exon16:c.G1823A:p.S608N",D,N,D,T,N,T
chr16,2578139,2578139,C,T,R007_S,AMDHD2,Missense_Mutation,NM_001145815,exon6,c.C707T,p.A236V,SNP,SNVindel,exonic,AMDHD2,NA,nonsynonymous SNV,"AMDHD2:NM_001145815:exon6:c.C707T:p.A236V,AMDHD2:NM_001330449:exon6:c.C707T:p.A236V,AMDHD2:NM_015944:exon6:c.C707T:p.A236V",D,D,D,D,D,D
chr16,2811608,2811608,G,A,R007_S,SRRM2,Missense_Mutation,NM_016333,exon11,c.G1079A,p.G360D,SNP,SNVindel,exonic,SRRM2,NA,nonsynonymous SNV,SRRM2:NM_016333:exon11:c.G1079A:p.G360D,.,N,N,T,N,T
chr16,2812028,2812028,C,T,R007_S,SRRM2,Missense_Mutation,NM_016333,exon11,c.C1499T,p.P500L,SNP,SNVindel,exonic,SRRM2,NA,nonsynonymous SNV,SRRM2:NM_016333:exon11:c.C1499T:p.P500L,.,D,D,T,D,T
chr16,2880418,2880418,C,T,R007_S,ZG16B,Silent,NM_145252,exon2,c.C84T,p.S28S,SNP,SNVindel,exonic,ZG16B,NA,synonymous SNV,ZG16B:NM_145252:exon2:c.C84T:p.S28S,NA,NA,NA,NA,NA,NA
chr16,2908102,2908102,C,T,R007_S,PRSS22,Missense_Mutation,NM_022119,exon1,c.G4A,p.V2M,SNP,SNVindel,exonic,PRSS22,NA,nonsynonymous SNV,PRSS22:NM_022119:exon1:c.G4A:p.V2M,T,N,N,D,N,T
chr16,2983504,2983504,G,A,R007_S,FLYWCH1,Silent,NM_001308068,exon5,c.G1170A,p.K390K,SNP,SNVindel,exonic,FLYWCH1,NA,synonymous SNV,"FLYWCH1:NM_001308068:exon5:c.G1170A:p.K390K,FLYWCH1:NM_020912:exon5:c.G1167A:p.K389K,FLYWCH1:NM_032296:exon5:c.G1167A:p.K389K",NA,NA,NA,NA,NA,NA
chr16,3016967,3016967,C,T,R007_S,KREMEN2,Missense_Mutation,NM_001253725,exon6,c.C580T,p.P194S,SNP,SNVindel,exonic,KREMEN2,NA,nonsynonymous SNV,"KREMEN2:NM_001253725:exon6:c.C580T:p.P194S,KREMEN2:NM_001253726:exon6:c.C580T:p.P194S,KREMEN2:NM_024507:exon6:c.C697T:p.P233S,KREMEN2:NM_172229:exon6:c.C697T:p.P233S",D,N,D,T,D,T
chr16,3065576,3065576,G,A,R007_S,CLDN6,Silent,NM_021195,exon2,c.C447T,p.N149N,SNP,SNVindel,exonic,CLDN6,NA,synonymous SNV,CLDN6:NM_021195:exon2:c.C447T:p.N149N,NA,NA,NA,NA,NA,NA
chr16,3100452,3100452,G,A,R007_S,MMP25,Missense_Mutation,NM_022468,exon4,c.G566A,p.G189E,SNP,SNVindel,exonic,MMP25,NA,nonsynonymous SNV,MMP25:NM_022468:exon4:c.G566A:p.G189E,D,D,D,T,D,T
chr16,3108506,3108506,C,T,R007_S,MMP25,Missense_Mutation,NM_022468,exon9,c.C1253T,p.A418V,SNP,SNVindel,exonic,MMP25,NA,nonsynonymous SNV,MMP25:NM_022468:exon9:c.C1253T:p.A418V,D,N,D,T,D,T
chr16,3141780,3141780,C,T,R007_S,ZSCAN10,Silent,NM_001282416,exon3,c.G303A,p.E101E,SNP,SNVindel,exonic,ZSCAN10,NA,synonymous SNV,"ZSCAN10:NM_001282416:exon3:c.G303A:p.E101E,ZSCAN10:NM_001365272:exon3:c.G168A:p.E56E,ZSCAN10:NM_032805:exon4:c.G714A:p.E238E",.,.,D,T,.,.
chr16,3254570,3254570,G,A,R007_S,OR1F1,Silent,NM_012360,exon3,c.G324A,p.V108V,SNP,SNVindel,exonic,OR1F1,NA,synonymous SNV,"OR1F1:NM_012360:exon3:c.G324A:p.V108V,OR1F1:NM_001370639:exon4:c.G354A:p.V118V,OR1F1:NM_001370640:exon4:c.G354A:p.V118V,OR1F1:NM_001370641:exon5:c.G324A:p.V108V",NA,NA,NA,NA,NA,NA
chr16,3406688,3406688,C,T,R007_S,OR2C1,Missense_Mutation,NM_012368,exon1,c.C748T,p.L250F,SNP,SNVindel,exonic,OR2C1,NA,nonsynonymous SNV,OR2C1:NM_012368:exon1:c.C748T:p.L250F,D,N,N,T,D,T
chr16,3640785,3640785,C,T,R007_S,SLX4,Missense_Mutation,NM_032444,exon12,c.G2854A,p.A952T,SNP,SNVindel,exonic,SLX4,NA,nonsynonymous SNV,SLX4:NM_032444:exon12:c.G2854A:p.A952T,T,N,N,T,N,T
chr16,4015858,4015858,G,A,R007_S,ADCY9,Missense_Mutation,NM_001116,exon11,c.C3980T,p.A1327V,SNP,SNVindel,exonic,ADCY9,NA,nonsynonymous SNV,ADCY9:NM_001116:exon11:c.C3980T:p.A1327V,D,D,D,D,N,T
chr16,4254548,4254548,G,A,R007_S,SRL,Missense_Mutation,NM_001098814,exon2,c.C149T,p.S50F,SNP,SNVindel,exonic,SRL,NA,nonsynonymous SNV,"SRL:NM_001098814:exon2:c.C149T:p.S50F,SRL:NM_001323667:exon3:c.C23T:p.S8F,SRL:NM_001323668:exon3:c.C23T:p.S8F",D,U,N,T,D,T
chr16,4383376,4383376,G,A,R007_S,GLIS2,Silent,NM_032575,exon2,c.G201A,p.E67E,SNP,SNVindel,exonic,GLIS2,NA,synonymous SNV,"GLIS2:NM_032575:exon2:c.G201A:p.E67E,GLIS2:NM_001318918:exon4:c.G201A:p.E67E",NA,NA,NA,NA,NA,NA
chr16,4744234,4744234,C,T,R007_S,NUDT16L1,Silent,NM_001193452,exon2,c.C409T,p.L137L,SNP,SNVindel,exonic,NUDT16L1,NA,synonymous SNV,"NUDT16L1:NM_001193452:exon2:c.C409T:p.L137L,NUDT16L1:NM_001370585:exon2:c.C403T:p.L135L,NUDT16L1:NM_001370586:exon2:c.C403T:p.L135L,NUDT16L1:NM_001370587:exon2:c.C409T:p.L137L,NUDT16L1:NM_032349:exon2:c.C409T:p.L137L",NA,NA,NA,NA,NA,NA
chr16,4910854,4910854,C,T,R007_S,UBN1,Silent,NM_001079514,exon7,c.C861T,p.D287D,SNP,SNVindel,exonic,UBN1,NA,synonymous SNV,"UBN1:NM_001079514:exon7:c.C861T:p.D287D,UBN1:NM_001288656:exon7:c.C861T:p.D287D",NA,NA,NA,NA,NA,NA
chr16,4933862,4933862,G,A,R007_S,PPL,Silent,NM_002705,exon22,c.C4794T,p.N1598N,SNP,SNVindel,exonic,PPL,NA,synonymous SNV,PPL:NM_002705:exon22:c.C4794T:p.N1598N,NA,NA,NA,NA,NA,NA
chr16,4935740,4935740,C,T,R007_S,PPL,Silent,NM_002705,exon22,c.G2916A,p.E972E,SNP,SNVindel,exonic,PPL,NA,synonymous SNV,PPL:NM_002705:exon22:c.G2916A:p.E972E,NA,NA,NA,NA,NA,NA
chr16,4938219,4938219,C,T,R007_S,PPL,Missense_Mutation,NM_002705,exon20,c.G2398A,p.D800N,SNP,SNVindel,exonic,PPL,NA,nonsynonymous SNV,PPL:NM_002705:exon20:c.G2398A:p.D800N,D,D,D,T,D,D
chr16,5125463,5125463,C,T,R007_S,ALG1,Silent,NM_001330504,exon4,c.C132T,p.D44D,SNP,SNVindel,exonic,ALG1,NA,synonymous SNV,"ALG1:NM_001330504:exon4:c.C132T:p.D44D,ALG1:NM_019109:exon4:c.C465T:p.D155D",.,.,D,.,.,.
chr16,9210673,9210673,C,T,R007_S,C16orf72,Silent,NM_014117,exon4,c.C732T,p.L244L,SNP,SNVindel,exonic,C16orf72,NA,synonymous SNV,C16orf72:NM_014117:exon4:c.C732T:p.L244L,NA,NA,NA,NA,NA,NA
chr16,9984869,9984869,G,A,R007_S,GRIN2A,Silent,NM_001134407,exon4,c.C1096T,p.L366L,SNP,SNVindel,exonic,GRIN2A,NA,synonymous SNV,"GRIN2A:NM_001134407:exon4:c.C1096T:p.L366L,GRIN2A:NM_001134408:exon4:c.C1096T:p.L366L,GRIN2A:NM_000833:exon5:c.C1096T:p.L366L",NA,NA,NA,NA,NA,NA
chr16,10274205,10274205,C,T,R007_S,GRIN2A,Missense_Mutation,NM_001134407,exon2,c.G64A,p.A22T,SNP,SNVindel,exonic,GRIN2A,NA,nonsynonymous SNV,"GRIN2A:NM_001134407:exon2:c.G64A:p.A22T,GRIN2A:NM_001134408:exon2:c.G64A:p.A22T,GRIN2A:NM_000833:exon3:c.G64A:p.A22T",D,N,N,T,N,T
chr16,11367267,11367267,C,T,R007_S,PRM3,Silent,NM_021247,exon1,c.G186A,p.E62E,SNP,SNVindel,exonic,PRM3,NA,synonymous SNV,PRM3:NM_021247:exon1:c.G186A:p.E62E,NA,NA,NA,NA,NA,NA
chr16,14280801,14280801,G,A,R007_S,MRTFB,Silent,NM_001365411,exon1,c.G30A,p.Q10Q,SNP,SNVindel,exonic,MRTFB,NA,synonymous SNV,"MRTFB:NM_001365411:exon1:c.G30A:p.Q10Q,MRTFB:NM_001365415:exon1:c.G30A:p.Q10Q",NA,NA,NA,NA,NA,NA
chr16,15116576,15116576,G,A,R007_S,PDXDC1,Missense_Mutation,NM_001285444,exon12,c.G1024A,p.E342K,SNP,SNVindel,exonic,PDXDC1,NA,nonsynonymous SNV,"PDXDC1:NM_001285444:exon12:c.G1024A:p.E342K,PDXDC1:NM_001285445:exon12:c.G1021A:p.E341K,PDXDC1:NM_001285448:exon12:c.G832A:p.E278K,PDXDC1:NM_001285450:exon12:c.G1036A:p.E346K,PDXDC1:NM_001324021:exon12:c.G1024A:p.E342K,PDXDC1:NM_001285447:exon13:c.G1060A:p.E354K,PDXDC1:NM_001285449:exon13:c.G1105A:p.E369K,PDXDC1:NM_001324019:exon13:c.G1102A:p.E368K,PDXDC1:NM_001324020:exon13:c.G1102A:p.E368K,PDXDC1:NM_015027:exon13:c.G1105A:p.E369K",T,D,D,T,N,T
chr16,15730112,15730112,C,T,R007_S,MARF1,Missense_Mutation,NM_001184998,exon3,c.G232A,p.V78I,SNP,SNVindel,exonic,MARF1,NA,nonsynonymous SNV,"MARF1:NM_001184998:exon3:c.G232A:p.V78I,MARF1:NM_001184999:exon3:c.G232A:p.V78I,MARF1:NM_014647:exon3:c.G232A:p.V78I",T,N,D,.,N,T
chr16,15835703,15835703,C,T,R007_S,MYH11,Missense_Mutation,NM_002474,exon21,c.G2566A,p.A856T,SNP,SNVindel,exonic,MYH11,NA,nonsynonymous SNV,"MYH11:NM_002474:exon21:c.G2566A:p.A856T,MYH11:NM_022844:exon21:c.G2566A:p.A856T,MYH11:NM_001040113:exon22:c.G2587A:p.A863T,MYH11:NM_001040114:exon22:c.G2587A:p.A863T",T,N,D,T,N,T
chr16,18823187,18823187,C,T,R007_S,SMG1,Missense_Mutation,NM_015092,exon62,c.G10804A,p.V3602M,SNP,SNVindel,exonic,SMG1,NA,nonsynonymous SNV,SMG1:NM_015092:exon62:c.G10804A:p.V3602M,D,D,D,T,N,T
chr16,18861280,18861280,G,A,R007_S,SMG1,Missense_Mutation,NM_015092,exon35,c.C5452T,p.P1818S,SNP,SNVindel,exonic,SMG1,NA,nonsynonymous SNV,SMG1:NM_015092:exon35:c.C5452T:p.P1818S,D,N,D,T,D,T
chr16,18861308,18861308,C,T,R007_S,SMG1,Silent,NM_015092,exon35,c.G5424A,p.E1808E,SNP,SNVindel,exonic,SMG1,NA,synonymous SNV,SMG1:NM_015092:exon35:c.G5424A:p.E1808E,NA,NA,NA,NA,NA,NA
chr16,19034505,19034505,G,A,R007_S,TMC7,Silent,NM_001160364,exon5,c.G369A,p.L123L,SNP,SNVindel,exonic,TMC7,NA,synonymous SNV,"TMC7:NM_001160364:exon5:c.G369A:p.L123L,TMC7:NM_001300732:exon5:c.G699A:p.L233L,TMC7:NM_001324265:exon5:c.G699A:p.L233L,TMC7:NM_024847:exon5:c.G699A:p.L233L",NA,NA,NA,NA,NA,NA
chr16,19063046,19063046,G,A,R007_S,TMC7,Silent,NM_001324268,exon12,c.G753A,p.P251P,SNP,SNVindel,exonic,TMC7,NA,synonymous SNV,"TMC7:NM_001324268:exon12:c.G753A:p.P251P,TMC7:NM_001160364:exon13:c.G1449A:p.P483P,TMC7:NM_001300732:exon13:c.G1779A:p.P593P,TMC7:NM_001324263:exon13:c.G753A:p.P251P,TMC7:NM_001324265:exon13:c.G1779A:p.P593P,TMC7:NM_024847:exon13:c.G1779A:p.P593P",NA,NA,NA,NA,NA,NA
chr16,19485490,19485490,C,T,R007_S,TMC5,Missense_Mutation,NM_024780,exon8,c.C1244T,p.P415L,SNP,SNVindel,exonic,TMC5,NA,nonsynonymous SNV,"TMC5:NM_024780:exon8:c.C1244T:p.P415L,TMC5:NM_001308161:exon11:c.C1826T:p.P609L,TMC5:NM_001105248:exon12:c.C1982T:p.P661L,TMC5:NM_001105249:exon12:c.C1982T:p.P661L,TMC5:NM_001261841:exon12:c.C1982T:p.P661L",D,D,D,T,D,D
chr16,20682888,20682888,G,A,R007_S,ACSM1,Silent,NM_052956,exon4,c.C717T,p.S239S,SNP,SNVindel,exonic,ACSM1,NA,synonymous SNV,"ACSM1:NM_052956:exon4:c.C717T:p.S239S,ACSM1:NM_001318890:exon5:c.C717T:p.S239S",NA,NA,NA,NA,NA,NA
chr16,20838727,20838727,G,A,R007_S,REXO5,Missense_Mutation,NM_001144924,exon10,c.G1013A,p.G338D,SNP,SNVindel,exonic,REXO5,NA,nonsynonymous SNV,"REXO5:NM_001144924:exon10:c.G1013A:p.G338D,REXO5:NM_001199053:exon10:c.G1013A:p.G338D,REXO5:NM_030941:exon10:c.G1013A:p.G338D",D,D,D,T,D,T
chr16,21261332,21261332,G,A,R007_S,ANKS4B,Missense_Mutation,NM_145865,exon2,c.G445A,p.E149K,SNP,SNVindel,exonic,ANKS4B,NA,nonsynonymous SNV,ANKS4B:NM_145865:exon2:c.G445A:p.E149K,T,N,D,T,N,T
chr16,21289486,21289486,C,T,R007_S,CRYM,Silent,NM_001888,exon3,c.G87A,p.T29T,SNP,SNVindel,exonic,CRYM,NA,synonymous SNV,CRYM:NM_001888:exon3:c.G87A:p.T29T,NA,NA,NA,NA,NA,NA
chr16,21982903,21982903,G,A,R007_S,UQCRC2,Missense_Mutation,NM_003366,exon9,c.G728A,p.G243E,SNP,SNVindel,exonic,UQCRC2,NA,nonsynonymous SNV,UQCRC2:NM_003366:exon9:c.G728A:p.G243E,D,D,D,T,D,T
chr16,22195538,22195538,G,A,R007_S,SDR42E2,Missense_Mutation,NM_001365288,exon10,c.G1525A,p.V509M,SNP,SNVindel,exonic,SDR42E2,NA,nonsynonymous SNV,SDR42E2:NM_001365288:exon10:c.G1525A:p.V509M,.,.,.,.,.,.
chr16,22337286,22337286,C,T,R007_S,POLR3E,Missense_Mutation,NM_001258034,exon17,c.C1445T,p.P482L,SNP,SNVindel,exonic,POLR3E,NA,nonsynonymous SNV,"POLR3E:NM_001258034:exon17:c.C1445T:p.P482L,POLR3E:NM_001258035:exon17:c.C1445T:p.P482L,POLR3E:NM_001258033:exon18:c.C1553T:p.P518L,POLR3E:NM_001258036:exon18:c.C1553T:p.P518L,POLR3E:NM_018119:exon18:c.C1553T:p.P518L",D,D,D,T,D,D
chr16,23080021,23080021,G,A,R007_S,USP31,Silent,NM_020718,exon16,c.C3405T,p.G1135G,SNP,SNVindel,exonic,USP31,NA,synonymous SNV,USP31:NM_020718:exon16:c.C3405T:p.G1135G,NA,NA,NA,NA,NA,NA
chr16,23226430,23226430,C,T,R007_S,SCNN1G,Silent,NM_001039,exon13,c.C1590T,p.N530N,SNP,SNVindel,exonic,SCNN1G,NA,synonymous SNV,SCNN1G:NM_001039:exon13:c.C1590T:p.N530N,NA,NA,NA,NA,NA,NA
chr16,23392035,23392035,C,T,R007_S,SCNN1B,Silent,NM_000336,exon13,c.C1836T,p.I612I,SNP,SNVindel,exonic,SCNN1B,NA,synonymous SNV,SCNN1B:NM_000336:exon13:c.C1836T:p.I612I,NA,NA,NA,NA,NA,NA
chr16,23453966,23453966,C,T,R007_S,COG7,Missense_Mutation,NM_153603,exon4,c.G436A,p.D146N,SNP,SNVindel,exonic,COG7,NA,nonsynonymous SNV,COG7:NM_153603:exon4:c.G436A:p.D146N,T,D,D,T,D,T
chr16,23632713,23632713,C,T,R007_S,PALB2,Missense_Mutation,NM_024675,exon10,c.G3083A,p.G1028D,SNP,SNVindel,exonic,PALB2,NA,nonsynonymous SNV,PALB2:NM_024675:exon10:c.G3083A:p.G1028D,D,D,D,T,D,T
chr16,23713974,23713974,C,T,R007_S,ERN2,Missense_Mutation,NM_001308220,exon9,c.G904A,p.A302T,SNP,SNVindel,exonic,ERN2,NA,nonsynonymous SNV,"ERN2:NM_001308220:exon9:c.G904A:p.A302T,ERN2:NM_033266:exon9:c.G904A:p.A302T",D,D,D,T,N,T
chr16,24231285,24231285,G,A,R007_S,PRKCB,Missense_Mutation,NM_212535,exon17,c.G1867A,p.D623N,SNP,SNVindel,exonic,PRKCB,NA,nonsynonymous SNV,PRKCB:NM_212535:exon17:c.G1867A:p.D623N,T,.,D,T,N,T
chr16,24815589,24815589,G,A,R007_S,TNRC6A,Silent,NM_001330520,exon12,c.G3786A,p.R1262R,SNP,SNVindel,exonic,TNRC6A,NA,synonymous SNV,"TNRC6A:NM_001330520:exon12:c.G3786A:p.R1262R,TNRC6A:NM_001351850:exon12:c.G3813A:p.R1271R,TNRC6A:NM_014494:exon12:c.G3786A:p.R1262R",NA,NA,NA,NA,NA,NA
chr16,24971040,24971040,C,T,R007_S,ARHGAP17,Missense_Mutation,NM_001006634,exon9,c.G676A,p.A226T,SNP,SNVindel,exonic,ARHGAP17,NA,nonsynonymous SNV,"ARHGAP17:NM_001006634:exon9:c.G676A:p.A226T,ARHGAP17:NM_018054:exon9:c.G676A:p.A226T",D,D,D,T,N,T
chr16,27760941,27760941,G,A,R007_S,KIAA0556,Missense_Mutation,NM_015202,exon16,c.G2660A,p.R887K,SNP,SNVindel,exonic,KIAA0556,NA,nonsynonymous SNV,KIAA0556:NM_015202:exon16:c.G2660A:p.R887K,T,N,N,T,N,T
chr16,28167821,28167821,C,T,R007_S,XPO6,Missense_Mutation,NM_015171,exon7,c.G671A,p.S224N,SNP,SNVindel,exonic,XPO6,NA,nonsynonymous SNV,"XPO6:NM_015171:exon7:c.G671A:p.S224N,XPO6:NM_001270940:exon8:c.G629A:p.S210N",D,D,D,T,N,T
chr16,28507089,28507089,G,A,R007_S,APOBR,Missense_Mutation,NM_018690,exon2,c.G727A,p.G243R,SNP,SNVindel,exonic,APOBR,NA,nonsynonymous SNV,APOBR:NM_018690:exon2:c.G727A:p.G243R,D,.,N,T,D,T
chr16,28550163,28550163,G,A,R007_S,NUPR1,Silent,NM_001042483,exon1,c.C66T,p.S22S,SNP,SNVindel,exonic,NUPR1,NA,synonymous SNV,"NUPR1:NM_001042483:exon1:c.C66T:p.S22S,NUPR1:NM_012385:exon1:c.C66T:p.S22S",NA,NA,NA,NA,NA,NA
chr16,28604884,28604884,G,A,R007_S,SULT1A2,Silent,NM_001054,exon5,c.C378T,p.V126V,SNP,SNVindel,exonic,SULT1A2,NA,synonymous SNV,"SULT1A2:NM_001054:exon5:c.C378T:p.V126V,SULT1A2:NM_177528:exon5:c.C378T:p.V126V",NA,NA,NA,NA,NA,NA
chr16,28842300,28842300,C,T,R007_S,ATXN2L,Missense_Mutation,NM_001308230,exon10,c.C1228T,p.P410S,SNP,SNVindel,exonic,ATXN2L,NA,nonsynonymous SNV,"ATXN2L:NM_001308230:exon10:c.C1228T:p.P410S,ATXN2L:NM_007245:exon10:c.C1228T:p.P410S,ATXN2L:NM_017492:exon10:c.C1228T:p.P410S,ATXN2L:NM_145714:exon10:c.C1228T:p.P410S,ATXN2L:NM_148414:exon10:c.C1228T:p.P410S,ATXN2L:NM_148415:exon10:c.C1228T:p.P410S,ATXN2L:NM_148416:exon10:c.C1228T:p.P410S",D,D,D,T,D,T
chr16,28843863,28843863,G,A,R007_S,ATXN2L,Silent,NM_001308230,exon12,c.G1581A,p.Q527Q,SNP,SNVindel,exonic,ATXN2L,NA,synonymous SNV,"ATXN2L:NM_001308230:exon12:c.G1581A:p.Q527Q,ATXN2L:NM_007245:exon12:c.G1563A:p.Q521Q,ATXN2L:NM_017492:exon12:c.G1563A:p.Q521Q,ATXN2L:NM_145714:exon12:c.G1563A:p.Q521Q,ATXN2L:NM_148414:exon12:c.G1563A:p.Q521Q,ATXN2L:NM_148415:exon12:c.G1563A:p.Q521Q,ATXN2L:NM_148416:exon12:c.G1563A:p.Q521Q",NA,NA,NA,NA,NA,NA
chr16,28950281,28950281,G,A,R007_S,CD19,Silent,NM_001178098,exon14,c.G1671A,p.R557R,SNP,SNVindel,exonic,CD19,NA,synonymous SNV,"CD19:NM_001178098:exon14:c.G1671A:p.R557R,CD19:NM_001770:exon14:c.G1668A:p.R556R",NA,NA,NA,NA,NA,NA
chr16,29858545,29858545,G,A,R007_S,MVP,Missense_Mutation,NM_001293205,exon12,c.G2095A,p.V699I,SNP,SNVindel,exonic,MVP,NA,nonsynonymous SNV,"MVP:NM_001293205:exon12:c.G2095A:p.V699I,MVP:NM_005115:exon14:c.G2293A:p.V765I,MVP:NM_017458:exon14:c.G2293A:p.V765I",T,D,N,T,N,T
chr16,29998557,29998557,G,A,R007_S,TAOK2,Silent,NM_016151,exon16,c.G2964A,p.A988A,SNP,SNVindel,exonic,TAOK2,NA,synonymous SNV,"TAOK2:NM_016151:exon16:c.G2964A:p.A988A,TAOK2:NM_001252043:exon17:c.G2625A:p.A875A",NA,NA,NA,NA,NA,NA
chr16,29998620,29998620,C,T,R007_S,TAOK2,Silent,NM_016151,exon16,c.C3027T,p.A1009A,SNP,SNVindel,exonic,TAOK2,NA,synonymous SNV,"TAOK2:NM_016151:exon16:c.C3027T:p.A1009A,TAOK2:NM_001252043:exon17:c.C2688T:p.A896A",NA,NA,NA,NA,NA,NA
chr16,30078828,30078828,G,A,R007_S,ALDOA,Missense_Mutation,NM_001127617,exon3,c.G170A,p.R57H,SNP,SNVindel,exonic,ALDOA,NA,nonsynonymous SNV,"ALDOA:NM_001127617:exon3:c.G170A:p.R57H,ALDOA:NM_184041:exon3:c.G170A:p.R57H,ALDOA:NM_184043:exon3:c.G170A:p.R57H,ALDOA:NM_001243177:exon4:c.G332A:p.R111H",D,D,D,D,D,D
chr16,30128220,30128220,C,T,R007_S,MAPK3,Missense_Mutation,NM_001109891,exon6,c.G880A,p.D294N,SNP,SNVindel,exonic,MAPK3,NA,nonsynonymous SNV,"MAPK3:NM_001109891:exon6:c.G880A:p.D294N,MAPK3:NM_001040056:exon7:c.G1012A:p.D338N,MAPK3:NM_002746:exon7:c.G1012A:p.D338N",D,D,D,T,D,D
chr16,30409492,30409492,G,A,R007_S,ZNF48,Silent,NM_001214907,exon2,c.G552A,p.V184V,SNP,SNVindel,exonic,ZNF48,NA,synonymous SNV,"ZNF48:NM_001214907:exon2:c.G552A:p.V184V,ZNF48:NM_001324494:exon2:c.G552A:p.V184V,ZNF48:NM_152652:exon2:c.G921A:p.V307V,ZNF48:NM_001214906:exon3:c.G921A:p.V307V,ZNF48:NM_001214909:exon3:c.G921A:p.V307V",NA,NA,NA,NA,NA,NA
chr16,30455966,30455966,C,T,R007_S,SEPHS2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SEPHS2,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr16,30569133,30569133,C,T,R007_S,ZNF764,Nonsense_Mutation,NM_001172679,exon2,c.G231A,p.W77X,SNP,SNVindel,exonic,ZNF764,NA,stopgain,"ZNF764:NM_001172679:exon2:c.G231A:p.W77X,ZNF764:NM_033410:exon2:c.G231A:p.W77X",.,N,A,.,.,.
chr16,30582343,30582343,C,T,R007_S,ZNF688,Missense_Mutation,NM_001024683,exon2,c.G256A,p.G86R,SNP,SNVindel,exonic,ZNF688,NA,nonsynonymous SNV,"ZNF688:NM_001024683:exon2:c.G256A:p.G86R,ZNF688:NM_145271:exon2:c.G298A:p.G100R",T,.,D,T,N,T
chr16,30596530,30596530,C,T,R007_S,ZNF785,Missense_Mutation,NM_152458,exon2,c.G247A,p.G83R,SNP,SNVindel,exonic,ZNF785,NA,nonsynonymous SNV,ZNF785:NM_152458:exon2:c.G247A:p.G83R,T,.,N,T,N,T
chr16,30768804,30768804,G,A,R007_S,CCDC189,Missense_Mutation,NM_001014979,exon9,c.C989T,p.T330I,SNP,SNVindel,exonic,CCDC189,NA,nonsynonymous SNV,CCDC189:NM_001014979:exon9:c.C989T:p.T330I,T,N,D,.,N,T
chr16,30768937,30768937,C,T,R007_S,CCDC189,Missense_Mutation,NM_001014979,exon9,c.G856A,p.V286M,SNP,SNVindel,exonic,CCDC189,NA,nonsynonymous SNV,CCDC189:NM_001014979:exon9:c.G856A:p.V286M,T,N,D,.,N,T
chr16,30793932,30793932,C,T,R007_S,ZNF629,Missense_Mutation,NM_001080417,exon3,c.G1717A,p.V573M,SNP,SNVindel,exonic,ZNF629,NA,nonsynonymous SNV,"ZNF629:NM_001080417:exon3:c.G1717A:p.V573M,ZNF629:NM_001345970:exon3:c.G1675A:p.V559M",D,N,N,T,N,T
chr16,30976371,30976371,G,A,R007_S,SETD1A,Silent,NM_014712,exon7,c.G1308A,p.E436E,SNP,SNVindel,exonic,SETD1A,NA,synonymous SNV,SETD1A:NM_014712:exon7:c.G1308A:p.E436E,NA,NA,NA,NA,NA,NA
chr16,31075229,31075229,G,A,R007_S,ZNF668,Silent,NM_001172668,exon2,c.C552T,p.R184R,SNP,SNVindel,exonic,ZNF668,NA,synonymous SNV,"ZNF668:NM_001172668:exon2:c.C552T:p.R184R,ZNF668:NM_001172670:exon2:c.C552T:p.R184R,ZNF668:NM_024706:exon2:c.C552T:p.R184R,ZNF668:NM_001172669:exon3:c.C621T:p.R207R",NA,NA,NA,NA,NA,NA
chr16,31152059,31152059,G,A,R007_S,PRSS36,Missense_Mutation,NM_001258290,exon13,c.C1906T,p.P636S,SNP,SNVindel,exonic,PRSS36,NA,nonsynonymous SNV,"PRSS36:NM_001258290:exon13:c.C1906T:p.P636S,PRSS36:NM_001258291:exon13:c.C1921T:p.P641S,PRSS36:NM_173502:exon13:c.C1921T:p.P641S",T,.,N,D,N,T
chr16,31277407,31277407,C,T,R007_S,ITGAM,Silent,NM_000632,exon5,c.C366T,p.L122L,SNP,SNVindel,exonic,ITGAM,NA,synonymous SNV,"ITGAM:NM_000632:exon5:c.C366T:p.L122L,ITGAM:NM_001145808:exon5:c.C366T:p.L122L",NA,NA,NA,NA,NA,NA
chr16,31374388,31374388,C,T,R007_S,ITGAX,Missense_Mutation,NM_000887,exon13,c.C1492T,p.P498S,SNP,SNVindel,exonic,ITGAX,NA,nonsynonymous SNV,"ITGAX:NM_000887:exon13:c.C1492T:p.P498S,ITGAX:NM_001286375:exon13:c.C1492T:p.P498S",D,.,N,T,D,T
chr16,31388193,31388193,C,T,R007_S,ITGAX,Missense_Mutation,NM_000887,exon21,c.C2582T,p.T861I,SNP,SNVindel,exonic,ITGAX,NA,nonsynonymous SNV,"ITGAX:NM_000887:exon21:c.C2582T:p.T861I,ITGAX:NM_001286375:exon21:c.C2582T:p.T861I",D,.,N,T,D,T
chr16,31437437,31437437,G,A,R007_S,ITGAD,Silent,NM_001318185,exon30,c.G3477A,p.V1159V,SNP,SNVindel,exonic,ITGAD,NA,synonymous SNV,"ITGAD:NM_001318185:exon30:c.G3477A:p.V1159V,ITGAD:NM_005353:exon30:c.G3474A:p.V1158V",NA,NA,NA,NA,NA,NA
chr16,31447695,31447695,G,A,R007_S,ZNF843,Missense_Mutation,NM_001136509,exon2,c.C476T,p.S159F,SNP,SNVindel,exonic,ZNF843,NA,nonsynonymous SNV,"ZNF843:NM_001136509:exon2:c.C476T:p.S159F,ZNF843:NM_001353381:exon2:c.C476T:p.S159F",D,.,N,T,N,T
chr16,31448066,31448066,G,A,R007_S,ZNF843,Silent,NM_001136509,exon2,c.C105T,p.C35C,SNP,SNVindel,exonic,ZNF843,NA,synonymous SNV,"ZNF843:NM_001136509:exon2:c.C105T:p.C35C,ZNF843:NM_001353381:exon2:c.C105T:p.C35C",NA,NA,NA,NA,NA,NA
chr16,31470801,31470801,G,A,R007_S,ARMC5,Missense_Mutation,NM_001301820,exon2,c.G52A,p.G18R,SNP,SNVindel,exonic,ARMC5,NA,nonsynonymous SNV,"ARMC5:NM_001301820:exon2:c.G52A:p.G18R,ARMC5:NM_001288767:exon3:c.G241A:p.G81R",T,.,N,T,N,T
chr16,47005866,47005866,G,A,R007_S,DNAJA2,Missense_Mutation,NM_005880,exon2,c.C80T,p.A27V,SNP,SNVindel,exonic,DNAJA2,NA,nonsynonymous SNV,DNAJA2:NM_005880:exon2:c.C80T:p.A27V,D,D,D,T,D,T
chr16,47117676,47117676,T,A,R007_S,NETO2,Missense_Mutation,NM_001201477,exon9,c.A1013T,p.K338M,SNP,SNVindel,exonic,NETO2,NA,nonsynonymous SNV,"NETO2:NM_001201477:exon9:c.A1013T:p.K338M,NETO2:NM_018092:exon9:c.A1034T:p.K345M",D,D,D,T,N,T
chr16,48145508,48145508,C,T,R007_S,ABCC12,Silent,NM_033226,exon15,c.G2190A,p.E730E,SNP,SNVindel,exonic,ABCC12,NA,synonymous SNV,ABCC12:NM_033226:exon15:c.G2190A:p.E730E,NA,NA,NA,NA,NA,NA
chr16,49671229,49671229,C,T,R007_S,ZNF423,Missense_Mutation,NM_001330533,exon2,c.G1483A,p.V495M,SNP,SNVindel,exonic,ZNF423,NA,nonsynonymous SNV,"ZNF423:NM_001330533:exon2:c.G1483A:p.V495M,ZNF423:NM_001271620:exon4:c.G1654A:p.V552M,ZNF423:NM_015069:exon4:c.G1834A:p.V612M",T,D,D,T,N,T
chr16,50344612,50344612,C,T,R007_S,ADCY7,Silent,NM_001114,exon19,c.C2175T,p.S725S,SNP,SNVindel,exonic,ADCY7,NA,synonymous SNV,ADCY7:NM_001114:exon19:c.C2175T:p.S725S,NA,NA,NA,NA,NA,NA
chr16,50659434,50659434,G,A,R007_S,NKD1,Silent,NM_033119,exon6,c.G405A,p.R135R,SNP,SNVindel,exonic,NKD1,NA,synonymous SNV,NKD1:NM_033119:exon6:c.G405A:p.R135R,NA,NA,NA,NA,NA,NA
chr16,50667624,50667624,G,A,R007_S,NKD1,Missense_Mutation,NM_033119,exon10,c.G1345A,p.V449I,SNP,SNVindel,exonic,NKD1,NA,nonsynonymous SNV,NKD1:NM_033119:exon10:c.G1345A:p.V449I,T,N,D,T,N,T
chr16,50745064,50745064,C,T,R007_S,NOD2,Silent,NM_001293557,exon3,c.C1161T,p.N387N,SNP,SNVindel,exonic,NOD2,NA,synonymous SNV,"NOD2:NM_001293557:exon3:c.C1161T:p.N387N,NOD2:NM_001370466:exon4:c.C1161T:p.N387N,NOD2:NM_022162:exon4:c.C1242T:p.N414N",NA,NA,NA,NA,NA,NA
chr16,50745781,50745781,G,A,R007_S,NOD2,Silent,NM_001293557,exon3,c.G1878A,p.E626E,SNP,SNVindel,exonic,NOD2,NA,synonymous SNV,"NOD2:NM_001293557:exon3:c.G1878A:p.E626E,NOD2:NM_001370466:exon4:c.G1878A:p.E626E,NOD2:NM_022162:exon4:c.G1959A:p.E653E",NA,NA,NA,NA,NA,NA
chr16,51174664,51174664,C,T,R007_S,SALL1,Missense_Mutation,NM_001127892,exon2,c.G1178A,p.G393E,SNP,SNVindel,exonic,SALL1,NA,nonsynonymous SNV,"SALL1:NM_001127892:exon2:c.G1178A:p.G393E,SALL1:NM_002968:exon2:c.G1469A:p.G490E",D,D,D,T,D,T
chr16,53692719,53692719,C,T,R007_S,RPGRIP1L,Missense_Mutation,NM_001127897,exon11,c.G1315A,p.D439N,SNP,SNVindel,exonic,RPGRIP1L,NA,nonsynonymous SNV,"RPGRIP1L:NM_001127897:exon11:c.G1315A:p.D439N,RPGRIP1L:NM_001308334:exon11:c.G1315A:p.D439N,RPGRIP1L:NM_001330538:exon11:c.G1315A:p.D439N,RPGRIP1L:NM_015272:exon11:c.G1315A:p.D439N",T,D,D,D,N,D
chr16,54319742,54319742,C,T,R007_S,IRX3,Missense_Mutation,NM_024336,exon1,c.G221A,p.G74D,SNP,SNVindel,exonic,IRX3,NA,nonsynonymous SNV,IRX3:NM_024336:exon1:c.G221A:p.G74D,T,D,D,T,D,T
chr16,55360500,55360500,G,A,R007_S,IRX6,Missense_Mutation,NM_024335,exon2,c.G298A,p.A100T,SNP,SNVindel,exonic,IRX6,NA,nonsynonymous SNV,IRX6:NM_024335:exon2:c.G298A:p.A100T,T,N,N,D,N,T
chr16,55523621,55523621,C,T,R007_S,MMP2,Silent,NM_001127891,exon7,c.C915T,p.F305F,SNP,SNVindel,exonic,MMP2,NA,synonymous SNV,"MMP2:NM_001127891:exon7:c.C915T:p.F305F,MMP2:NM_001302508:exon7:c.C837T:p.F279F,MMP2:NM_001302509:exon7:c.C837T:p.F279F,MMP2:NM_001302510:exon7:c.C837T:p.F279F,MMP2:NM_004530:exon7:c.C1065T:p.F355F",NA,NA,NA,NA,NA,NA
chr16,55729264,55729264,G,A,R007_S,SLC6A2,Missense_Mutation,NM_001172502,exon5,c.G782A,p.G261D,SNP,SNVindel,exonic,SLC6A2,NA,nonsynonymous SNV,"SLC6A2:NM_001172502:exon5:c.G782A:p.G261D,SLC6A2:NM_001043:exon7:c.G1097A:p.G366D,SLC6A2:NM_001172504:exon7:c.G1097A:p.G366D,SLC6A2:NM_001172501:exon8:c.G1097A:p.G366D",D,D,D,D,D,D
chr16,55895379,55895379,G,A,R007_S,CES5A,Missense_Mutation,NM_001143685,exon7,c.C860T,p.A287V,SNP,SNVindel,exonic,CES5A,NA,nonsynonymous SNV,"CES5A:NM_001143685:exon7:c.C860T:p.A287V,CES5A:NM_145024:exon7:c.C860T:p.A287V,CES5A:NM_001190158:exon8:c.C947T:p.A316V",T,N,N,T,D,T
chr16,56374856,56374856,G,A,R007_S,GNAO1,Silent,NM_138736,exon7,c.G834A,p.K278K,SNP,SNVindel,exonic,GNAO1,NA,synonymous SNV,GNAO1:NM_138736:exon7:c.G834A:p.K278K,NA,NA,NA,NA,NA,NA
chr16,56904644,56904644,C,T,R007_S,SLC12A3,Missense_Mutation,NM_000339,exon6,c.C848T,p.S283F,SNP,SNVindel,exonic,SLC12A3,NA,nonsynonymous SNV,"SLC12A3:NM_000339:exon6:c.C848T:p.S283F,SLC12A3:NM_001126107:exon6:c.C845T:p.S282F,SLC12A3:NM_001126108:exon6:c.C848T:p.S283F",D,D,D,D,D,T
chr16,57003571,57003571,C,T,R007_S,CETP,Silent,NM_000078,exon4,c.C417T,p.D139D,SNP,SNVindel,exonic,CETP,NA,synonymous SNV,"CETP:NM_000078:exon4:c.C417T:p.D139D,CETP:NM_001286085:exon4:c.C417T:p.D139D",NA,NA,NA,NA,NA,NA
chr16,57007290,57007290,C,T,R007_S,CETP,Silent,NM_000078,exon9,c.C798T,p.T266T,SNP,SNVindel,exonic,CETP,NA,synonymous SNV,CETP:NM_000078:exon9:c.C798T:p.T266T,NA,NA,NA,NA,NA,NA
chr16,57012053,57012053,G,A,R007_S,CETP,Silent,NM_001286085,exon10,c.G852A,p.K284K,SNP,SNVindel,exonic,CETP,NA,synonymous SNV,"CETP:NM_001286085:exon10:c.G852A:p.K284K,CETP:NM_000078:exon11:c.G1032A:p.K344K",NA,NA,NA,NA,NA,NA
chr16,57153520,57153520,C,T,R007_S,CPNE2,Silent,NM_152727,exon7,c.C639T,p.P213P,SNP,SNVindel,exonic,CPNE2,NA,synonymous SNV,CPNE2:NM_152727:exon7:c.C639T:p.P213P,NA,NA,NA,NA,NA,NA
chr16,57155591,57155591,G,A,R007_S,CPNE2,Silent,NM_152727,exon9,c.G786A,p.E262E,SNP,SNVindel,exonic,CPNE2,NA,synonymous SNV,CPNE2:NM_152727:exon9:c.G786A:p.E262E,NA,NA,NA,NA,NA,NA
chr16,57416300,57416300,G,A,R007_S,CX3CL1,Missense_Mutation,NM_001304392,exon2,c.G295A,p.E99K,SNP,SNVindel,exonic,CX3CL1,NA,nonsynonymous SNV,"CX3CL1:NM_001304392:exon2:c.G295A:p.E99K,CX3CL1:NM_002996:exon3:c.G550A:p.E184K",D,N,N,T,N,T
chr16,57467995,57467995,G,A,R007_S,CIAPIN1,Nonsense_Mutation,NM_001308347,exon5,c.C478T,p.Q160X,SNP,SNVindel,exonic,CIAPIN1,NA,stopgain,"CIAPIN1:NM_001308347:exon5:c.C478T:p.Q160X,CIAPIN1:NM_001308358:exon5:c.C517T:p.Q173X,CIAPIN1:NM_020313:exon5:c.C517T:p.Q173X",.,D,A,.,.,.
chr16,57494519,57494519,C,T,R007_S,COQ9,Silent,NM_020312,exon9,c.C940T,p.L314L,SNP,SNVindel,exonic,COQ9,NA,synonymous SNV,COQ9:NM_020312:exon9:c.C940T:p.L314L,NA,NA,NA,NA,NA,NA
chr16,57546710,57546710,G,T,R007_S,CCDC102A,Silent,NM_033212,exon9,c.C1596A,p.A532A,SNP,SNVindel,exonic,CCDC102A,NA,synonymous SNV,CCDC102A:NM_033212:exon9:c.C1596A:p.A532A,NA,NA,NA,NA,NA,NA
chr16,57760120,57760120,G,A,R007_S,DRC7,Silent,NM_001289163,exon12,c.G1704A,p.E568E,SNP,SNVindel,exonic,DRC7,NA,synonymous SNV,"DRC7:NM_001289163:exon12:c.G1704A:p.E568E,DRC7:NM_032269:exon13:c.G1899A:p.E633E,DRC7:NM_001289162:exon14:c.G1899A:p.E633E",NA,NA,NA,NA,NA,NA
chr16,57805187,57805187,C,T,R007_S,KIFC3,Missense_Mutation,NM_001318712,exon4,c.G382A,p.E128K,SNP,SNVindel,exonic,KIFC3,NA,nonsynonymous SNV,"KIFC3:NM_001318712:exon4:c.G382A:p.E128K,KIFC3:NM_001318713:exon4:c.G271A:p.E91K,KIFC3:NM_001130099:exon5:c.G271A:p.E91K,KIFC3:NM_001130100:exon6:c.G688A:p.E230K,KIFC3:NM_001318710:exon6:c.G754A:p.E252K,KIFC3:NM_001318711:exon6:c.G514A:p.E172K,KIFC3:NM_001318715:exon6:c.G271A:p.E91K,KIFC3:NM_005550:exon6:c.G688A:p.E230K,KIFC3:NM_001318714:exon7:c.G271A:p.E91K",T,N,D,T,N,T
chr16,57805205,57805205,C,T,R007_S,KIFC3,Missense_Mutation,NM_001318712,exon4,c.G364A,p.A122T,SNP,SNVindel,exonic,KIFC3,NA,nonsynonymous SNV,"KIFC3:NM_001318712:exon4:c.G364A:p.A122T,KIFC3:NM_001318713:exon4:c.G253A:p.A85T,KIFC3:NM_001130099:exon5:c.G253A:p.A85T,KIFC3:NM_001130100:exon6:c.G670A:p.A224T,KIFC3:NM_001318710:exon6:c.G736A:p.A246T,KIFC3:NM_001318711:exon6:c.G496A:p.A166T,KIFC3:NM_001318715:exon6:c.G253A:p.A85T,KIFC3:NM_005550:exon6:c.G670A:p.A224T,KIFC3:NM_001318714:exon7:c.G253A:p.A85T",T,N,D,T,N,T
chr16,58312517,58312517,G,A,R007_S,CCDC113,Nonsense_Mutation,NM_001142302,exon7,c.G861A,p.W287X,SNP,SNVindel,exonic,CCDC113,NA,stopgain,"CCDC113:NM_001142302:exon7:c.G861A:p.W287X,CCDC113:NM_014157:exon8:c.G1023A:p.W341X",.,D,D,.,.,.
chr16,58545473,58545473,C,T,R007_S,NDRG4,Missense_Mutation,NM_001242834,exon14,c.C1067T,p.S356F,SNP,SNVindel,exonic,NDRG4,NA,nonsynonymous SNV,"NDRG4:NM_001242834:exon14:c.C1067T:p.S356F,NDRG4:NM_001242836:exon14:c.C1013T:p.S338F,NDRG4:NM_001242833:exon15:c.C1103T:p.S368F,NDRG4:NM_001242835:exon15:c.C1052T:p.S351F,NDRG4:NM_001130487:exon16:c.C1169T:p.S390F,NDRG4:NM_001363869:exon16:c.C848T:p.S283F,NDRG4:NM_020465:exon16:c.C1109T:p.S370F,NDRG4:NM_022910:exon16:c.C1109T:p.S370F",D,D,D,T,D,T
chr16,66614086,66614086,C,T,R007_S,CMTM2,Missense_Mutation,NM_144673,exon2,c.C443T,p.S148F,SNP,SNVindel,exonic,CMTM2,NA,nonsynonymous SNV,CMTM2:NM_144673:exon2:c.C443T:p.S148F,T,N,N,T,N,T
chr16,66918517,66918517,G,A,R007_S,PDP2,Silent,NM_001329929,exon2,c.G330A,p.E110E,SNP,SNVindel,exonic,PDP2,NA,synonymous SNV,"PDP2:NM_001329929:exon2:c.G330A:p.E110E,PDP2:NM_001329930:exon2:c.G330A:p.E110E,PDP2:NM_001329931:exon2:c.G330A:p.E110E,PDP2:NM_001329934:exon2:c.G330A:p.E110E,PDP2:NM_020786:exon2:c.G330A:p.E110E,PDP2:NM_001329928:exon3:c.G330A:p.E110E,PDP2:NM_001329932:exon3:c.G330A:p.E110E,PDP2:NM_001329933:exon3:c.G330A:p.E110E",NA,NA,NA,NA,NA,NA
chr16,67037182,67037182,C,T,R007_S,CES4A,Silent,NM_001190201,exon5,c.C525T,p.C175C,SNP,SNVindel,exonic,CES4A,NA,synonymous SNV,"CES4A:NM_001190201:exon5:c.C525T:p.C175C,CES4A:NM_001190202:exon5:c.C537T:p.C179C,CES4A:NM_001318506:exon5:c.C237T:p.C79C,CES4A:NM_001364782:exon7:c.C819T:p.C273C,CES4A:NM_173815:exon7:c.C819T:p.C273C",NA,NA,NA,NA,NA,NA
chr16,67183501,67183501,C,T,R007_S,B3GNT9,Silent,NM_033309,exon2,c.G888A,p.G296G,SNP,SNVindel,exonic,B3GNT9,NA,synonymous SNV,B3GNT9:NM_033309:exon2:c.G888A:p.G296G,NA,NA,NA,NA,NA,NA
chr16,67184107,67184107,C,T,R007_S,B3GNT9,Silent,NM_033309,exon2,c.G282A,p.R94R,SNP,SNVindel,exonic,B3GNT9,NA,synonymous SNV,B3GNT9:NM_033309:exon2:c.G282A:p.R94R,NA,NA,NA,NA,NA,NA
chr16,67208185,67208185,G,A,R007_S,NOL3,Missense_Mutation,NM_001185057,exon2,c.G113A,p.G38D,SNP,SNVindel,exonic,NOL3,NA,nonsynonymous SNV,"NOL3:NM_001185057:exon2:c.G113A:p.G38D,NOL3:NM_001276309:exon2:c.G113A:p.G38D,NOL3:NM_001276311:exon2:c.G113A:p.G38D,NOL3:NM_003946:exon2:c.G113A:p.G38D,NOL3:NM_001276307:exon4:c.G113A:p.G38D,NOL3:NM_001276312:exon4:c.G113A:p.G38D,NOL3:NM_001276319:exon4:c.G299A:p.G100D",T,N,D,T,N,T
chr16,67271937,67271937,C,T,R007_S,FHOD1,Silent,NM_001318202,exon6,c.G642A,p.L214L,SNP,SNVindel,exonic,FHOD1,NA,synonymous SNV,"FHOD1:NM_001318202:exon6:c.G642A:p.L214L,FHOD1:NM_013241:exon6:c.G642A:p.L214L",NA,NA,NA,NA,NA,NA
chr16,67320417,67320417,G,A,R007_S,PLEKHG4,Missense_Mutation,NM_001129731,exon14,c.G2359A,p.G787S,SNP,SNVindel,exonic,PLEKHG4,NA,nonsynonymous SNV,"PLEKHG4:NM_001129731:exon14:c.G2359A:p.G787S,PLEKHG4:NM_001129728:exon16:c.G2602A:p.G868S,PLEKHG4:NM_001129729:exon16:c.G2602A:p.G868S,PLEKHG4:NM_001129727:exon17:c.G2602A:p.G868S",T,N,D,T,N,T
chr16,67354600,67354600,C,T,R007_S,KCTD19,Silent,NM_001100915,exon2,c.G192A,p.R64R,SNP,SNVindel,exonic,KCTD19,NA,synonymous SNV,KCTD19:NM_001100915:exon2:c.G192A:p.R64R,NA,NA,NA,NA,NA,NA
chr16,67440328,67440328,C,T,R007_S,ZDHHC1,Silent,NM_001323627,exon3,c.G27A,p.K9K,SNP,SNVindel,exonic,ZDHHC1,NA,synonymous SNV,"ZDHHC1:NM_001323627:exon3:c.G27A:p.K9K,ZDHHC1:NM_013304:exon3:c.G27A:p.K9K",NA,NA,NA,NA,NA,NA
chr16,67681984,67681984,C,T,R007_S,CARMIL2,Silent,NM_001013838,exon14,c.C1101T,p.N367N,SNP,SNVindel,exonic,CARMIL2,NA,synonymous SNV,"CARMIL2:NM_001013838:exon14:c.C1101T:p.N367N,CARMIL2:NM_001317026:exon14:c.C1101T:p.N367N",NA,NA,NA,NA,NA,NA
chr16,67682185,67682185,C,T,R007_S,CARMIL2,Silent,NM_001013838,exon14,c.C1302T,p.H434H,SNP,SNVindel,exonic,CARMIL2,NA,synonymous SNV,"CARMIL2:NM_001013838:exon14:c.C1302T:p.H434H,CARMIL2:NM_001317026:exon15:c.C1194T:p.H398H",NA,NA,NA,NA,NA,NA
chr16,67696111,67696111,G,A,R007_S,PARD6A,Missense_Mutation,NM_001037281,exon3,c.G599A,p.G200D,SNP,SNVindel,exonic,PARD6A,NA,nonsynonymous SNV,"PARD6A:NM_001037281:exon3:c.G599A:p.G200D,PARD6A:NM_016948:exon3:c.G602A:p.G201D",D,D,D,T,D,T
chr16,67865735,67865735,C,T,R007_S,CENPT,Missense_Mutation,NM_025082,exon8,c.G445A,p.A149T,SNP,SNVindel,exonic,CENPT,NA,nonsynonymous SNV,CENPT:NM_025082:exon8:c.G445A:p.A149T,D,N,N,T,N,T
chr16,67877343,67877343,C,T,R007_S,THAP11,Silent,NM_020457,exon1,c.C886T,p.L296L,SNP,SNVindel,exonic,THAP11,NA,synonymous SNV,THAP11:NM_020457:exon1:c.C886T:p.L296L,NA,NA,NA,NA,NA,NA
chr16,67916905,67916905,G,A,R007_S,EDC4,Missense_Mutation,NM_014329,exon27,c.G3674A,p.G1225D,SNP,SNVindel,exonic,EDC4,NA,nonsynonymous SNV,EDC4:NM_014329:exon27:c.G3674A:p.G1225D,T,D,D,.,N,T
chr16,67968835,67968835,C,T,R007_S,PSMB10,Missense_Mutation,NM_002801,exon7,c.G575A,p.G192E,SNP,SNVindel,exonic,PSMB10,NA,nonsynonymous SNV,PSMB10:NM_002801:exon7:c.G575A:p.G192E,T,N,N,T,N,T
chr16,67970639,67970639,G,A,R007_S,PSMB10,Missense_Mutation,NM_002801,exon1,c.C14T,p.A5V,SNP,SNVindel,exonic,PSMB10,NA,nonsynonymous SNV,PSMB10:NM_002801:exon1:c.C14T:p.A5V,T,N,N,T,N,T
chr16,67995551,67995551,G,A,R007_S,SLC12A4,Missense_Mutation,NM_001145962,exon2,c.C275T,p.T92I,SNP,SNVindel,exonic,SLC12A4,NA,nonsynonymous SNV,"SLC12A4:NM_001145962:exon2:c.C275T:p.T92I,SLC12A4:NM_001145961:exon3:c.C269T:p.T90I,SLC12A4:NM_001145963:exon3:c.C251T:p.T84I,SLC12A4:NM_001145964:exon3:c.C176T:p.T59I,SLC12A4:NM_005072:exon3:c.C269T:p.T90I",D,D,D,D,D,D
chr16,68057091,68057091,C,T,R007_S,DDX28,Silent,NM_018380,exon1,c.G15A,p.R5R,SNP,SNVindel,exonic,DDX28,NA,synonymous SNV,DDX28:NM_018380:exon1:c.G15A:p.R5R,NA,NA,NA,NA,NA,NA
chr16,68071979,68071979,C,T,R007_S,DUS2,Missense_Mutation,NM_001271762,exon2,c.C53T,p.P18L,SNP,SNVindel,exonic,DUS2,NA,nonsynonymous SNV,"DUS2:NM_001271762:exon2:c.C53T:p.P18L,DUS2:NM_001271763:exon3:c.C53T:p.P18L,DUS2:NM_017803:exon3:c.C53T:p.P18L",D,D,D,T,D,D
chr16,68267255,68267255,G,A,R007_S,ESRP2,Silent,NM_001365264,exon5,c.C630T,p.I210I,SNP,SNVindel,exonic,ESRP2,NA,synonymous SNV,"ESRP2:NM_001365264:exon5:c.C630T:p.I210I,ESRP2:NM_001365265:exon5:c.C630T:p.I210I,ESRP2:NM_024939:exon5:c.C630T:p.I210I",NA,NA,NA,NA,NA,NA
chr16,68387339,68387339,C,T,R007_S,PRMT7,Missense_Mutation,NM_001351144,exon16,c.C1523T,p.P508L,SNP,SNVindel,exonic,PRMT7,NA,nonsynonymous SNV,PRMT7:NM_001351144:exon16:c.C1523T:p.P508L,NA,NA,NA,NA,NA,NA
chr16,69368460,69368460,C,T,R007_S,COG8,Silent,NM_032382,exon3,c.G1377A,p.Q459Q,SNP,SNVindel,exonic,COG8,NA,synonymous SNV,COG8:NM_032382:exon3:c.G1377A:p.Q459Q,NA,NA,NA,NA,NA,NA
chr16,70516682,70516682,C,T,R007_S,COG4,Missense_Mutation,NM_001195139,exon14,c.G1795A,p.V599M,SNP,SNVindel,exonic,COG4,NA,nonsynonymous SNV,"COG4:NM_001195139:exon14:c.G1795A:p.V599M,COG4:NM_015386:exon15:c.G1870A:p.V624M,COG4:NM_001365426:exon16:c.G1444A:p.V482M",D,D,D,T,N,T
chr16,71317713,71317713,C,T,R007_S,CMTR2,Missense_Mutation,NM_001324378,exon2,c.G2111A,p.S704N,SNP,SNVindel,exonic,CMTR2,NA,nonsynonymous SNV,"CMTR2:NM_001324378:exon2:c.G2111A:p.S704N,CMTR2:NM_001324379:exon2:c.G2111A:p.S704N,CMTR2:NM_001099642:exon3:c.G2111A:p.S704N,CMTR2:NM_001324374:exon3:c.G2111A:p.S704N,CMTR2:NM_001324377:exon3:c.G2111A:p.S704N,CMTR2:NM_018348:exon3:c.G2111A:p.S704N",T,N,N,T,N,T
chr16,71884729,71884729,C,T,R007_S,ATXN1L,Silent,NM_001137675,exon3,c.C1086T,p.P362P,SNP,SNVindel,exonic,ATXN1L,NA,synonymous SNV,ATXN1L:NM_001137675:exon3:c.C1086T:p.P362P,NA,NA,NA,NA,NA,NA
chr16,72162666,72162666,C,T,R007_S,PMFBP1,Missense_Mutation,NM_031293,exon14,c.G1978A,p.E660K,SNP,SNVindel,exonic,PMFBP1,NA,nonsynonymous SNV,"PMFBP1:NM_031293:exon14:c.G1978A:p.E660K,PMFBP1:NM_001160213:exon15:c.G1543A:p.E515K",T,D,N,T,N,T
chr16,72822440,72822440,C,T,R007_S,ZFHX3,Silent,NM_001164766,exon9,c.G6993A,p.K2331K,SNP,SNVindel,exonic,ZFHX3,NA,synonymous SNV,"ZFHX3:NM_001164766:exon9:c.G6993A:p.K2331K,ZFHX3:NM_006885:exon10:c.G9735A:p.K3245K",NA,NA,NA,NA,NA,NA
chr16,72828849,72828849,C,A,R007_S,ZFHX3,Missense_Mutation,NM_001164766,exon8,c.G4990T,p.D1664Y,SNP,SNVindel,exonic,ZFHX3,NA,nonsynonymous SNV,"ZFHX3:NM_001164766:exon8:c.G4990T:p.D1664Y,ZFHX3:NM_006885:exon9:c.G7732T:p.D2578Y",D,D,D,T,D,D
chr16,72832006,72832006,C,T,R007_S,ZFHX3,Silent,NM_001164766,exon8,c.G1833A,p.L611L,SNP,SNVindel,exonic,ZFHX3,NA,synonymous SNV,"ZFHX3:NM_001164766:exon8:c.G1833A:p.L611L,ZFHX3:NM_006885:exon9:c.G4575A:p.L1525L",NA,NA,NA,NA,NA,NA
chr16,74496430,74496430,C,T,R007_S,GLG1,Missense_Mutation,NM_001145666,exon20,c.G2857A,p.E953K,SNP,SNVindel,exonic,GLG1,NA,nonsynonymous SNV,"GLG1:NM_001145666:exon20:c.G2857A:p.E953K,GLG1:NM_001145667:exon21:c.G2890A:p.E964K,GLG1:NM_012201:exon21:c.G2890A:p.E964K",D,D,D,.,N,T
chr16,75033834,75033834,G,A,R007_S,ZNRF1,Missense_Mutation,NM_032268,exon1,c.G265A,p.G89R,SNP,SNVindel,exonic,ZNRF1,NA,nonsynonymous SNV,ZNRF1:NM_032268:exon1:c.G265A:p.G89R,D,N,D,.,N,T
chr16,75147477,75147477,G,A,R007_S,LDHD,Missense_Mutation,NM_153486,exon8,c.C1111T,p.H371Y,SNP,SNVindel,exonic,LDHD,NA,nonsynonymous SNV,"LDHD:NM_153486:exon8:c.C1111T:p.H371Y,LDHD:NM_194436:exon8:c.C1042T:p.H348Y",D,D,D,D,D,D
chr16,75203362,75203362,C,T,R007_S,ZFP1,Silent,NM_001318472,exon3,c.C255T,p.D85D,SNP,SNVindel,exonic,ZFP1,NA,synonymous SNV,"ZFP1:NM_001318472:exon3:c.C255T:p.D85D,ZFP1:NM_001318473:exon3:c.C189T:p.D63D,ZFP1:NM_001318474:exon3:c.C189T:p.D63D,ZFP1:NM_001318469:exon4:c.C354T:p.D118D,ZFP1:NM_153688:exon4:c.C354T:p.D118D,ZFP1:NM_001318471:exon5:c.C255T:p.D85D",NA,NA,NA,NA,NA,NA
chr16,75238091,75238091,G,A,R007_S,CTRB2,Missense_Mutation,NM_001025200,exon7,c.C760T,p.P254S,SNP,SNVindel,exonic,CTRB2,NA,nonsynonymous SNV,CTRB2:NM_001025200:exon7:c.C760T:p.P254S,T,U,N,D,N,T
chr16,75263561,75263561,C,T,R007_S,BCAR1,Missense_Mutation,NM_001170721,exon6,c.G1831A,p.D611N,SNP,SNVindel,exonic,BCAR1,NA,nonsynonymous SNV,"BCAR1:NM_001170721:exon6:c.G1831A:p.D611N,BCAR1:NM_001170715:exon7:c.G2515A:p.D839N,BCAR1:NM_001170716:exon7:c.G2515A:p.D839N,BCAR1:NM_001170717:exon7:c.G2515A:p.D839N,BCAR1:NM_001170718:exon7:c.G2461A:p.D821N,BCAR1:NM_001170719:exon7:c.G2455A:p.D819N,BCAR1:NM_014567:exon7:c.G2461A:p.D821N,BCAR1:NM_001170714:exon8:c.G2599A:p.D867N,BCAR1:NM_001170720:exon8:c.G2017A:p.D673N",D,D,D,T,N,T
chr16,75267773,75267773,G,A,R007_S,BCAR1,Nonsense_Mutation,NM_001170721,exon5,c.C1441T,p.Q481X,SNP,SNVindel,exonic,BCAR1,NA,stopgain,"BCAR1:NM_001170721:exon5:c.C1441T:p.Q481X,BCAR1:NM_001170715:exon6:c.C2125T:p.Q709X,BCAR1:NM_001170716:exon6:c.C2125T:p.Q709X,BCAR1:NM_001170717:exon6:c.C2125T:p.Q709X,BCAR1:NM_001170718:exon6:c.C2071T:p.Q691X,BCAR1:NM_001170719:exon6:c.C2065T:p.Q689X,BCAR1:NM_014567:exon6:c.C2071T:p.Q691X,BCAR1:NM_001170714:exon7:c.C2209T:p.Q737X,BCAR1:NM_001170720:exon7:c.C1627T:p.Q543X",.,D,D,.,.,.
chr16,75448526,75448526,C,T,R007_S,CFDP1,Silent,NM_006324,exon2,c.G132A,p.Q44Q,SNP,SNVindel,exonic,CFDP1,NA,synonymous SNV,CFDP1:NM_006324:exon2:c.G132A:p.Q44Q,NA,NA,NA,NA,NA,NA
chr16,75634158,75634158,C,T,R007_S,ADAT1,Missense_Mutation,NM_001324453,exon7,c.G958A,p.G320R,SNP,SNVindel,exonic,ADAT1,NA,nonsynonymous SNV,"ADAT1:NM_001324453:exon7:c.G958A:p.G320R,ADAT1:NM_001324449:exon8:c.G1219A:p.G407R,ADAT1:NM_001324451:exon8:c.G772A:p.G258R,ADAT1:NM_001324448:exon9:c.G1219A:p.G407R,ADAT1:NM_001324450:exon9:c.G772A:p.G258R,ADAT1:NM_001324452:exon9:c.G1204A:p.G402R,ADAT1:NM_001324445:exon10:c.G1465A:p.G489R,ADAT1:NM_001324444:exon11:c.G1018A:p.G340R,ADAT1:NM_001324446:exon11:c.G1018A:p.G340R,ADAT1:NM_012091:exon11:c.G1465A:p.G489R",T,N,N,D,N,D
chr16,75664388,75664388,C,T,R007_S,KARS,Missense_Mutation,NM_005548,exon11,c.G1357A,p.E453K,SNP,SNVindel,exonic,KARS,NA,nonsynonymous SNV,"KARS:NM_005548:exon11:c.G1357A:p.E453K,KARS:NM_001130089:exon12:c.G1441A:p.E481K",D,D,D,T,D,D
chr16,81095489,81095489,G,A,R007_S,C16orf46,Silent,NM_001100873,exon3,c.C465T,p.Y155Y,SNP,SNVindel,exonic,C16orf46,NA,synonymous SNV,"C16orf46:NM_001100873:exon3:c.C465T:p.Y155Y,C16orf46:NM_152337:exon4:c.C465T:p.Y155Y",NA,NA,NA,NA,NA,NA
chr16,81190480,81190480,G,A,R007_S,PKD1L2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PKD1L2,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr16,81236172,81236172,G,A,R007_S,PKD1L2,Missense_Mutation,NM_001076780,exon6,c.C1076T,p.A359V,SNP,SNVindel,exonic,PKD1L2,NA,nonsynonymous SNV,PKD1L2:NM_001076780:exon6:c.C1076T:p.A359V,.,N,N,D,N,T
chr16,81236202,81236202,G,A,R007_S,PKD1L2,Missense_Mutation,NM_001076780,exon6,c.C1046T,p.T349I,SNP,SNVindel,exonic,PKD1L2,NA,nonsynonymous SNV,PKD1L2:NM_001076780:exon6:c.C1046T:p.T349I,.,N,N,D,D,T
chr16,81298378,81298378,C,T,R007_S,BCO1,Missense_Mutation,NM_017429,exon5,c.C605T,p.P202L,SNP,SNVindel,exonic,BCO1,NA,nonsynonymous SNV,BCO1:NM_017429:exon5:c.C605T:p.P202L,D,D,D,D,D,D
chr16,81740673,81740673,C,T,R007_S,CMIP,Missense_Mutation,NM_030629,exon20,c.C1970T,p.T657I,SNP,SNVindel,exonic,CMIP,NA,nonsynonymous SNV,"CMIP:NM_030629:exon20:c.C1970T:p.T657I,CMIP:NM_198390:exon20:c.C2252T:p.T751I",D,D,D,T,N,T
chr16,82197701,82197701,C,T,R007_S,MPHOSPH6,Silent,NM_005792,exon2,c.G150A,p.E50E,SNP,SNVindel,exonic,MPHOSPH6,NA,synonymous SNV,MPHOSPH6:NM_005792:exon2:c.G150A:p.E50E,NA,NA,NA,NA,NA,NA
chr16,83378478,83378478,G,A,R007_S,CDH13,Silent,NM_001220489,exon5,c.G531A,p.E177E,SNP,SNVindel,exonic,CDH13,NA,synonymous SNV,"CDH13:NM_001220489:exon5:c.G531A:p.E177E,CDH13:NM_001257:exon6:c.G648A:p.E216E,CDH13:NM_001220488:exon7:c.G789A:p.E263E",NA,NA,NA,NA,NA,NA
chr16,83842984,83842984,G,A,R007_S,HSBP1,Missense_Mutation,NM_001537,exon3,c.G187A,p.E63K,SNP,SNVindel,exonic,HSBP1,NA,nonsynonymous SNV,HSBP1:NM_001537:exon3:c.G187A:p.E63K,D,D,D,.,D,T
chr16,84214709,84214709,C,T,R007_S,TAF1C,Silent,NM_001243158,exon8,c.G330A,p.Q110Q,SNP,SNVindel,exonic,TAF1C,NA,synonymous SNV,"TAF1C:NM_001243158:exon8:c.G330A:p.Q110Q,TAF1C:NM_001243157:exon9:c.G330A:p.Q110Q,TAF1C:NM_001243159:exon11:c.G99A:p.Q33Q,TAF1C:NM_005679:exon11:c.G1326A:p.Q442Q,TAF1C:NM_001243156:exon12:c.G1248A:p.Q416Q,TAF1C:NM_139353:exon12:c.G1047A:p.Q349Q",NA,NA,NA,NA,NA,NA
chr16,84228700,84228700,C,T,R007_S,ADAD2,Silent,NM_001145400,exon4,c.C633T,p.R211R,SNP,SNVindel,exonic,ADAD2,NA,synonymous SNV,"ADAD2:NM_001145400:exon4:c.C633T:p.R211R,ADAD2:NM_139174:exon5:c.C849T:p.R283R",NA,NA,NA,NA,NA,NA
chr16,84229836,84229836,C,T,R007_S,ADAD2,Silent,NM_001145400,exon8,c.C1386T,p.T462T,SNP,SNVindel,exonic,ADAD2,NA,synonymous SNV,"ADAD2:NM_001145400:exon8:c.C1386T:p.T462T,ADAD2:NM_139174:exon9:c.C1632T:p.T544T",NA,NA,NA,NA,NA,NA
chr16,84693496,84693496,C,T,R007_S,KLHL36,Missense_Mutation,NM_024731,exon4,c.C1268T,p.S423F,SNP,SNVindel,exonic,KLHL36,NA,nonsynonymous SNV,KLHL36:NM_024731:exon4:c.C1268T:p.S423F,D,D,D,T,D,T
chr16,85832872,85832872,G,A,R007_S,EMC8,Silent,NM_001142288,exon1,c.C30T,p.A10A,SNP,SNVindel,exonic,EMC8,NA,synonymous SNV,"EMC8:NM_001142288:exon1:c.C30T:p.A10A,EMC8:NM_006067:exon1:c.C30T:p.A10A",NA,NA,NA,NA,NA,NA
chr16,85942605,85942605,G,A,R007_S,IRF8,Missense_Mutation,NM_001363907,exon3,c.G214A,p.V72I,SNP,SNVindel,exonic,IRF8,NA,nonsynonymous SNV,"IRF8:NM_001363907:exon3:c.G214A:p.V72I,IRF8:NM_002163:exon3:c.G184A:p.V62I",T,D,D,D,N,D
chr16,86601158,86601158,C,T,R007_S,FOXC2,Missense_Mutation,NM_005251,exon1,c.C217T,p.P73S,SNP,SNVindel,exonic,FOXC2,NA,nonsynonymous SNV,FOXC2:NM_005251:exon1:c.C217T:p.P73S,D,U,D,D,D,D
chr16,86612353,86612353,G,A,R007_S,FOXL1,Silent,NM_005250,exon1,c.G24A,p.R8R,SNP,SNVindel,exonic,FOXL1,NA,synonymous SNV,FOXL1:NM_005250:exon1:c.G24A:p.R8R,NA,NA,NA,NA,NA,NA
chr16,87350756,87350756,C,T,R007_S,C16orf95,Missense_Mutation,NM_001256917,exon1,c.G44A,p.R15Q,SNP,SNVindel,exonic,C16orf95,NA,nonsynonymous SNV,C16orf95:NM_001256917:exon1:c.G44A:p.R15Q,.,.,.,.,.,.
chr16,88494501,88494501,C,T,R007_S,ZNF469,Missense_Mutation,NM_001367624,exon1,c.C623T,p.P208L,SNP,SNVindel,exonic,ZNF469,NA,nonsynonymous SNV,ZNF469:NM_001367624:exon1:c.C623T:p.P208L,T,.,N,T,N,T
chr16,88499759,88499759,G,A,R007_S,ZNF469,Missense_Mutation,NM_001367624,exon1,c.G5881A,p.G1961S,SNP,SNVindel,exonic,ZNF469,NA,nonsynonymous SNV,ZNF469:NM_001367624:exon1:c.G5881A:p.G1961S,T,.,N,T,N,T
chr16,88503055,88503055,C,T,R007_S,ZNF469,Silent,NM_001367624,exon1,c.C9177T,p.C3059C,SNP,SNVindel,exonic,ZNF469,NA,synonymous SNV,ZNF469:NM_001367624:exon1:c.C9177T:p.C3059C,NA,NA,NA,NA,NA,NA
chr16,88599285,88599285,C,T,R007_S,ZFPM1,Silent,NM_153813,exon9,c.C1131T,p.G377G,SNP,SNVindel,exonic,ZFPM1,NA,synonymous SNV,ZFPM1:NM_153813:exon9:c.C1131T:p.G377G,NA,NA,NA,NA,NA,NA
chr16,88772605,88772605,G,A,R007_S,RNF166,Silent,NM_178841,exon1,c.C129T,p.P43P,SNP,SNVindel,exonic,RNF166,NA,synonymous SNV,RNF166:NM_178841:exon1:c.C129T:p.P43P,NA,NA,NA,NA,NA,NA
chr16,88804666,88804666,C,T,R007_S,PIEZO1,Missense_Mutation,NM_001142864,exon7,c.G817A,p.A273T,SNP,SNVindel,exonic,PIEZO1,NA,nonsynonymous SNV,PIEZO1:NM_001142864:exon7:c.G817A:p.A273T,T,.,N,T,N,T
chr16,88805102,88805102,G,A,R007_S,PIEZO1,Silent,NM_001142864,exon6,c.C508T,p.L170L,SNP,SNVindel,exonic,PIEZO1,NA,synonymous SNV,PIEZO1:NM_001142864:exon6:c.C508T:p.L170L,NA,NA,NA,NA,NA,NA
chr16,89169016,89169016,C,T,R007_S,ACSF3,Missense_Mutation,NM_001127214,exon3,c.C671T,p.T224I,SNP,SNVindel,exonic,ACSF3,NA,nonsynonymous SNV,"ACSF3:NM_001127214:exon3:c.C671T:p.T224I,ACSF3:NM_001243279:exon4:c.C671T:p.T224I,ACSF3:NM_174917:exon4:c.C671T:p.T224I",D,N,D,T,D,T
chr16,89293327,89293327,C,T,R007_S,ZNF778,Missense_Mutation,NM_182531,exon6,c.C547T,p.P183S,SNP,SNVindel,exonic,ZNF778,NA,nonsynonymous SNV,"ZNF778:NM_182531:exon6:c.C547T:p.P183S,ZNF778:NM_001201407:exon7:c.C631T:p.P211S",T,.,N,T,N,T
chr16,89347601,89347601,G,A,R007_S,ANKRD11,Silent,NM_001256183,exon9,c.C5349T,p.L1783L,SNP,SNVindel,exonic,ANKRD11,NA,synonymous SNV,"ANKRD11:NM_001256183:exon9:c.C5349T:p.L1783L,ANKRD11:NM_013275:exon9:c.C5349T:p.L1783L,ANKRD11:NM_001256182:exon10:c.C5349T:p.L1783L",NA,NA,NA,NA,NA,NA
chr16,89703890,89703890,C,T,R007_S,DPEP1,Silent,NM_001128141,exon8,c.C783T,p.S261S,SNP,SNVindel,exonic,DPEP1,NA,synonymous SNV,"DPEP1:NM_001128141:exon8:c.C783T:p.S261S,DPEP1:NM_004413:exon8:c.C783T:p.S261S",NA,NA,NA,NA,NA,NA
chr16,89779034,89779034,C,T,R007_S,VPS9D1,Silent,NM_004913,exon5,c.G522A,p.Q174Q,SNP,SNVindel,exonic,VPS9D1,NA,synonymous SNV,VPS9D1:NM_004913:exon5:c.G522A:p.Q174Q,NA,NA,NA,NA,NA,NA
chr16,89865593,89865593,G,A,R007_S,FANCA,Missense_Mutation,NM_001351830,exon9,c.C778T,p.H260Y,SNP,SNVindel,exonic,FANCA,NA,nonsynonymous SNV,"FANCA:NM_001351830:exon9:c.C778T:p.H260Y,FANCA:NM_000135:exon10:c.C874T:p.H292Y,FANCA:NM_001018112:exon10:c.C874T:p.H292Y,FANCA:NM_001286167:exon10:c.C874T:p.H292Y",T,N,N,T,N,T
chr16,90102070,90102070,G,A,R007_S,GAS8,Silent,NM_001286205,exon5,c.G276A,p.R92R,SNP,SNVindel,exonic,GAS8,NA,synonymous SNV,"GAS8:NM_001286205:exon5:c.G276A:p.R92R,GAS8:NM_001286209:exon5:c.G450A:p.R150R,GAS8:NM_001481:exon5:c.G525A:p.R175R",NA,NA,NA,NA,NA,NA
chr17,685842,685842,C,T,R007_S,MRM3,Missense_Mutation,NM_018146,exon1,c.C224T,p.P75L,SNP,SNVindel,exonic,MRM3,NA,nonsynonymous SNV,MRM3:NM_018146:exon1:c.C224T:p.P75L,T,N,N,T,N,T
chr17,722695,722695,C,T,R007_S,NXN,Silent,NM_001205319,exon5,c.G480A,p.R160R,SNP,SNVindel,exonic,NXN,NA,synonymous SNV,"NXN:NM_001205319:exon5:c.G480A:p.R160R,NXN:NM_022463:exon5:c.G804A:p.R268R",NA,NA,NA,NA,NA,NA
chr17,962015,962015,G,A,R007_S,ABR,Silent,NM_001282149,exon6,c.C621T,p.I207I,SNP,SNVindel,exonic,ABR,NA,synonymous SNV,"ABR:NM_001282149:exon6:c.C621T:p.I207I,ABR:NM_001092:exon10:c.C1164T:p.I388I,ABR:NM_001159746:exon11:c.C1137T:p.I379I,ABR:NM_001322840:exon11:c.C1137T:p.I379I,ABR:NM_001322841:exon11:c.C2052T:p.I684I,ABR:NM_021962:exon11:c.C1275T:p.I425I",NA,NA,NA,NA,NA,NA
chr17,1538472,1538472,G,A,R007_S,SCARF1,Silent,NM_003693,exon11,c.C2073T,p.I691I,SNP,SNVindel,exonic,SCARF1,NA,synonymous SNV,SCARF1:NM_003693:exon11:c.C2073T:p.I691I,NA,NA,NA,NA,NA,NA
chr17,1543308,1543308,G,A,R007_S,SCARF1,Missense_Mutation,NM_003693,exon6,c.C1037T,p.T346I,SNP,SNVindel,exonic,SCARF1,NA,nonsynonymous SNV,"SCARF1:NM_003693:exon6:c.C1037T:p.T346I,SCARF1:NM_145350:exon6:c.C1037T:p.T346I",D,N,D,T,D,T
chr17,1629135,1629135,G,A,R007_S,WDR81,Silent,NM_001163809,exon1,c.G882A,p.K294K,SNP,SNVindel,exonic,WDR81,NA,synonymous SNV,WDR81:NM_001163809:exon1:c.G882A:p.K294K,NA,NA,NA,NA,NA,NA
chr17,1629790,1629790,G,A,R007_S,WDR81,Missense_Mutation,NM_001163809,exon1,c.G1537A,p.D513N,SNP,SNVindel,exonic,WDR81,NA,nonsynonymous SNV,WDR81:NM_001163809:exon1:c.G1537A:p.D513N,D,.,D,T,N,D
chr17,1630982,1630982,G,A,R007_S,WDR81,Missense_Mutation,NM_001163809,exon1,c.G2729A,p.G910D,SNP,SNVindel,exonic,WDR81,NA,nonsynonymous SNV,WDR81:NM_001163809:exon1:c.G2729A:p.G910D,T,.,D,T,N,T
chr17,1800433,1800433,G,A,R007_S,RPA1,Silent,NM_001355121,exon16,c.G1638A,p.R546R,SNP,SNVindel,exonic,RPA1,NA,synonymous SNV,"RPA1:NM_001355121:exon16:c.G1638A:p.R546R,RPA1:NM_001355120:exon17:c.G1776A:p.R592R,RPA1:NM_002945:exon17:c.G1815A:p.R605R",NA,NA,NA,NA,NA,NA
chr17,1972106,1972106,C,T,R007_S,SMG6,Silent,NM_001282326,exon4,c.G534A,p.E178E,SNP,SNVindel,exonic,SMG6,NA,synonymous SNV,"SMG6:NM_001282326:exon4:c.G534A:p.E178E,SMG6:NM_001256828:exon8:c.G1077A:p.E359E,SMG6:NM_001256827:exon9:c.G1077A:p.E359E,SMG6:NM_017575:exon16:c.G3801A:p.E1267E",NA,NA,NA,NA,NA,NA
chr17,2266795,2266795,G,A,R007_S,SGSM2,Missense_Mutation,NM_001098509,exon7,c.G709A,p.D237N,SNP,SNVindel,exonic,SGSM2,NA,nonsynonymous SNV,"SGSM2:NM_001098509:exon7:c.G709A:p.D237N,SGSM2:NM_001346700:exon7:c.G709A:p.D237N,SGSM2:NM_014853:exon7:c.G709A:p.D237N",T,D,D,T,D,T
chr17,2291176,2291176,G,A,R007_S,MNT,Silent,NM_020310,exon5,c.C975T,p.D325D,SNP,SNVindel,exonic,MNT,NA,synonymous SNV,MNT:NM_020310:exon5:c.C975T:p.D325D,NA,NA,NA,NA,NA,NA
chr17,2600100,2600100,C,T,R007_S,CLUH,Missense_Mutation,NM_001366661,exon11,c.G2098A,p.A700T,SNP,SNVindel,exonic,CLUH,NA,nonsynonymous SNV,"CLUH:NM_001366661:exon11:c.G2098A:p.A700T,CLUH:NM_001366662:exon11:c.G1984A:p.A662T,CLUH:NM_015229:exon11:c.G2098A:p.A700T",T,N,N,T,N,T
chr17,2921437,2921437,G,A,R007_S,RAP1GAP2,Missense_Mutation,NM_001100398,exon17,c.G1532A,p.S511N,SNP,SNVindel,exonic,RAP1GAP2,NA,nonsynonymous SNV,"RAP1GAP2:NM_001100398:exon17:c.G1532A:p.S511N,RAP1GAP2:NM_001330058:exon18:c.G1520A:p.S507N,RAP1GAP2:NM_015085:exon18:c.G1577A:p.S526N",D,D,D,D,N,D
chr17,3101042,3101042,C,T,R007_S,OR1A2,Missense_Mutation,NM_012352,exon1,c.C230T,p.T77I,SNP,SNVindel,exonic,OR1A2,NA,nonsynonymous SNV,OR1A2:NM_012352:exon1:c.C230T:p.T77I,T,N,N,T,D,T
chr17,3101451,3101451,C,T,R007_S,OR1A2,Silent,NM_012352,exon1,c.C639T,p.I213I,SNP,SNVindel,exonic,OR1A2,NA,synonymous SNV,OR1A2:NM_012352:exon1:c.C639T:p.I213I,NA,NA,NA,NA,NA,NA
chr17,3194941,3194941,C,T,R007_S,OR3A1,Silent,NM_002550,exon1,c.G936A,p.R312R,SNP,SNVindel,exonic,OR3A1,NA,synonymous SNV,OR3A1:NM_002550:exon1:c.G936A:p.R312R,NA,NA,NA,NA,NA,NA
chr17,3446898,3446898,C,T,R007_S,TRPV3,Silent,NM_001258205,exon5,c.G336A,p.Q112Q,SNP,SNVindel,exonic,TRPV3,NA,synonymous SNV,"TRPV3:NM_001258205:exon5:c.G336A:p.Q112Q,TRPV3:NM_145068:exon5:c.G336A:p.Q112Q",NA,NA,NA,NA,NA,NA
chr17,3628172,3628172,G,A,R007_S,HASPIN,Missense_Mutation,NM_031965,exon1,c.G943A,p.E315K,SNP,SNVindel,exonic,HASPIN,NA,nonsynonymous SNV,HASPIN:NM_031965:exon1:c.G943A:p.E315K,T,N,N,T,N,T
chr17,3629522,3629522,C,T,R007_S,HASPIN,Missense_Mutation,NM_031965,exon1,c.C2293T,p.P765S,SNP,SNVindel,exonic,HASPIN,NA,nonsynonymous SNV,HASPIN:NM_031965:exon1:c.C2293T:p.P765S,T,N,N,T,N,T
chr17,3729069,3729069,C,T,R007_S,NCBP3,Missense_Mutation,NM_001114118,exon6,c.G679A,p.D227N,SNP,SNVindel,exonic,NCBP3,NA,nonsynonymous SNV,NCBP3:NM_001114118:exon6:c.G679A:p.D227N,T,D,D,.,N,T
chr17,4540442,4540442,G,A,R007_S,ALOX15,Missense_Mutation,NM_001140,exon7,c.C919T,p.P307S,SNP,SNVindel,exonic,ALOX15,NA,nonsynonymous SNV,ALOX15:NM_001140:exon7:c.C919T:p.P307S,T,N,D,T,D,T
chr17,4576734,4576734,G,A,R007_S,PELP1,Silent,NM_014389,exon15,c.C1656T,p.V552V,SNP,SNVindel,exonic,PELP1,NA,synonymous SNV,"PELP1:NM_014389:exon15:c.C1656T:p.V552V,PELP1:NM_001278241:exon16:c.C1215T:p.V405V",NA,NA,NA,NA,NA,NA
chr17,4619825,4619825,C,T,R007_S,ARRB2,Silent,NM_001257331,exon4,c.C234T,p.N78N,SNP,SNVindel,exonic,ARRB2,NA,synonymous SNV,"ARRB2:NM_001257331:exon4:c.C234T:p.N78N,ARRB2:NM_199004:exon4:c.C234T:p.N78N,ARRB2:NM_001257328:exon5:c.C279T:p.N93N,ARRB2:NM_001257329:exon5:c.C279T:p.N93N,ARRB2:NM_001257330:exon5:c.C279T:p.N93N,ARRB2:NM_004313:exon5:c.C279T:p.N93N",NA,NA,NA,NA,NA,NA
chr17,4644003,4644003,C,T,R007_S,ZMYND15,Missense_Mutation,NM_001136046,exon2,c.C160T,p.P54S,SNP,SNVindel,exonic,ZMYND15,NA,nonsynonymous SNV,"ZMYND15:NM_001136046:exon2:c.C160T:p.P54S,ZMYND15:NM_001267822:exon2:c.C160T:p.P54S,ZMYND15:NM_032265:exon2:c.C160T:p.P54S",T,N,N,T,N,T
chr17,4798511,4798511,C,T,R007_S,MINK1,Missense_Mutation,NM_015716,exon24,c.C2948T,p.S983F,SNP,SNVindel,exonic,MINK1,NA,nonsynonymous SNV,"MINK1:NM_015716:exon24:c.C2948T:p.S983F,MINK1:NM_001024937:exon25:c.C2999T:p.S1000F,MINK1:NM_001321236:exon25:c.C2783T:p.S928F,MINK1:NM_153827:exon25:c.C3059T:p.S1020F,MINK1:NM_170663:exon25:c.C2972T:p.S991F",D,D,D,T,D,D
chr17,4800570,4800570,C,T,R007_S,MINK1,Silent,NM_015716,exon31,c.C3876T,p.I1292I,SNP,SNVindel,exonic,MINK1,NA,synonymous SNV,"MINK1:NM_015716:exon31:c.C3876T:p.I1292I,MINK1:NM_001024937:exon32:c.C3927T:p.I1309I,MINK1:NM_001321236:exon32:c.C3711T:p.I1237I,MINK1:NM_153827:exon32:c.C3987T:p.I1329I,MINK1:NM_170663:exon32:c.C3900T:p.I1300I",NA,NA,NA,NA,NA,NA
chr17,4802819,4802819,G,A,R007_S,CHRNE,Missense_Mutation,NM_000080,exon9,c.C976T,p.L326F,SNP,SNVindel,exonic,CHRNE,NA,nonsynonymous SNV,CHRNE:NM_000080:exon9:c.C976T:p.L326F,D,D,D,D,D,D
chr17,4803078,4803078,C,T,R007_S,C17orf107,Silent,NM_001145536,exon1,c.C21T,p.S7S,SNP,SNVindel,exonic,C17orf107,NA,synonymous SNV,C17orf107:NM_001145536:exon1:c.C21T:p.S7S,NA,NA,NA,NA,NA,NA
chr17,4836007,4836007,G,A,R007_S,GP1BA,Silent,NM_000173,exon2,c.G108A,p.R36R,SNP,SNVindel,exonic,GP1BA,NA,synonymous SNV,GP1BA:NM_000173:exon2:c.G108A:p.R36R,NA,NA,NA,NA,NA,NA
chr17,4837558,4837558,C,T,R007_S,GP1BA,Silent,NM_000173,exon2,c.C1659T,p.S553S,SNP,SNVindel,exonic,GP1BA,NA,synonymous SNV,GP1BA:NM_000173:exon2:c.C1659T:p.S553S,NA,NA,NA,NA,NA,NA
chr17,4883313,4883313,C,T,R007_S,CAMTA2,Missense_Mutation,NM_001171166,exon8,c.G1310A,p.G437D,SNP,SNVindel,exonic,CAMTA2,NA,nonsynonymous SNV,"CAMTA2:NM_001171166:exon8:c.G1310A:p.G437D,CAMTA2:NM_001171168:exon8:c.G1301A:p.G434D,CAMTA2:NM_001171167:exon9:c.G1373A:p.G458D,CAMTA2:NM_015099:exon9:c.G1304A:p.G435D",D,N,N,T,N,T
chr17,4883810,4883810,G,A,R007_S,CAMTA2,Silent,NM_001171166,exon8,c.C813T,p.P271P,SNP,SNVindel,exonic,CAMTA2,NA,synonymous SNV,"CAMTA2:NM_001171166:exon8:c.C813T:p.P271P,CAMTA2:NM_001171168:exon8:c.C804T:p.P268P,CAMTA2:NM_001171167:exon9:c.C876T:p.P292P,CAMTA2:NM_015099:exon9:c.C807T:p.P269P",NA,NA,NA,NA,NA,NA
chr17,4910270,4910270,C,T,R007_S,KIF1C,Missense_Mutation,NM_006612,exon14,c.C1226T,p.A409V,SNP,SNVindel,exonic,KIF1C,NA,nonsynonymous SNV,KIF1C:NM_006612:exon14:c.C1226T:p.A409V,T,.,N,T,N,T
chr17,4925894,4925894,C,T,R007_S,KIF1C,Silent,NM_006612,exon22,c.C2518T,p.L840L,SNP,SNVindel,exonic,KIF1C,NA,synonymous SNV,KIF1C:NM_006612:exon22:c.C2518T:p.L840L,NA,NA,NA,NA,NA,NA
chr17,5085128,5085128,C,T,R007_S,ZNF594,Silent,NM_032530,exon2,c.G2424A,p.X808X,SNP,SNVindel,exonic,ZNF594,NA,synonymous SNV,ZNF594:NM_032530:exon2:c.G2424A:p.X808X,NA,NA,NA,NA,NA,NA
chr17,5418251,5418251,C,T,R007_S,NLRP1,Silent,NM_033007,exon15,c.G4023A,p.R1341R,SNP,SNVindel,exonic,NLRP1,NA,synonymous SNV,"NLRP1:NM_033007:exon15:c.G4023A:p.R1341R,NLRP1:NM_014922:exon16:c.G4113A:p.R1371R,NLRP1:NM_033006:exon16:c.G4155A:p.R1385R,NLRP1:NM_033004:exon17:c.G4245A:p.R1415R",NA,NA,NA,NA,NA,NA
chr17,5487153,5487153,G,A,R007_S,NLRP1,Missense_Mutation,NM_001033053,exon1,c.C125T,p.P42L,SNP,SNVindel,exonic,NLRP1,NA,nonsynonymous SNV,"NLRP1:NM_001033053:exon1:c.C125T:p.P42L,NLRP1:NM_014922:exon1:c.C125T:p.P42L,NLRP1:NM_033004:exon1:c.C125T:p.P42L,NLRP1:NM_033006:exon1:c.C125T:p.P42L,NLRP1:NM_033007:exon1:c.C125T:p.P42L",T,N,N,T,N,T
chr17,5984350,5984350,C,T,R007_S,WSCD1,Silent,NM_015253,exon2,c.C372T,p.S124S,SNP,SNVindel,exonic,WSCD1,NA,synonymous SNV,WSCD1:NM_015253:exon2:c.C372T:p.S124S,NA,NA,NA,NA,NA,NA
chr17,7004955,7004955,C,T,R007_S,ASGR2,Missense_Mutation,NM_080914,exon8,c.G818A,p.C273Y,SNP,SNVindel,exonic,ASGR2,NA,nonsynonymous SNV,"ASGR2:NM_080914:exon8:c.G818A:p.C273Y,ASGR2:NM_001181:exon9:c.G875A:p.C292Y,ASGR2:NM_001201352:exon9:c.G860A:p.C287Y,ASGR2:NM_080912:exon9:c.G875A:p.C292Y,ASGR2:NM_080913:exon9:c.G803A:p.C268Y",D,D,D,T,D,D
chr17,7081836,7081836,C,T,R007_S,ASGR1,Missense_Mutation,NM_001197216,exon2,c.G47A,p.S16N,SNP,SNVindel,exonic,ASGR1,NA,nonsynonymous SNV,"ASGR1:NM_001197216:exon2:c.G47A:p.S16N,ASGR1:NM_001671:exon2:c.G47A:p.S16N",T,N,N,T,N,T
chr17,7095227,7095227,G,A,R007_S,DLG4,Missense_Mutation,NM_001321076,exon17,c.C1781T,p.S594F,SNP,SNVindel,exonic,DLG4,NA,nonsynonymous SNV,"DLG4:NM_001321076:exon17:c.C1781T:p.S594F,DLG4:NM_001321077:exon17:c.C1781T:p.S594F,DLG4:NM_001369566:exon17:c.C1880T:p.S627F,DLG4:NM_001128827:exon18:c.C1952T:p.S651F,DLG4:NM_001321075:exon18:c.C1961T:p.S654F,DLG4:NM_001321074:exon20:c.C2081T:p.S694F,DLG4:NM_001365:exon20:c.C2090T:p.S697F",D,.,D,T,D,D
chr17,7187314,7187314,C,T,R007_S,SLC2A4,Missense_Mutation,NM_001042,exon5,c.C470T,p.P157L,SNP,SNVindel,exonic,SLC2A4,NA,nonsynonymous SNV,SLC2A4:NM_001042:exon5:c.C470T:p.P157L,D,D,D,D,D,D
chr17,7189148,7189148,G,A,R007_S,SLC2A4,Missense_Mutation,NM_001042,exon10,c.G1247A,p.R416H,SNP,SNVindel,exonic,SLC2A4,NA,nonsynonymous SNV,SLC2A4:NM_001042:exon10:c.G1247A:p.R416H,D,D,D,D,D,D
chr17,7221835,7221835,G,A,R007_S,NEURL4,Silent,NM_001005408,exon23,c.C3837T,p.D1279D,SNP,SNVindel,exonic,NEURL4,NA,synonymous SNV,"NEURL4:NM_001005408:exon23:c.C3837T:p.D1279D,NEURL4:NM_032442:exon23:c.C3843T:p.D1281D",NA,NA,NA,NA,NA,NA
chr17,7291756,7291756,C,T,R007_S,TNK1,Silent,NM_001251902,exon11,c.C1524T,p.S508S,SNP,SNVindel,exonic,TNK1,NA,synonymous SNV,"TNK1:NM_001251902:exon11:c.C1524T:p.S508S,TNK1:NM_003985:exon11:c.C1509T:p.S503S",NA,NA,NA,NA,NA,NA
chr17,7330718,7330718,G,A,R007_S,SPEM2,Missense_Mutation,NM_175734,exon3,c.G1408A,p.V470M,SNP,SNVindel,exonic,SPEM2,NA,nonsynonymous SNV,SPEM2:NM_175734:exon3:c.G1408A:p.V470M,D,U,D,T,N,T
chr17,7340571,7340571,G,A,R007_S,TMEM102,Missense_Mutation,NM_001320444,exon2,c.G1273A,p.A425T,SNP,SNVindel,exonic,TMEM102,NA,nonsynonymous SNV,"TMEM102:NM_001320444:exon2:c.G1273A:p.A425T,TMEM102:NM_178518:exon3:c.G1273A:p.A425T",D,N,D,T,N,T
chr17,7406563,7406563,G,A,R007_S,POLR2A,Silent,NM_000937,exon17,c.G2880A,p.R960R,SNP,SNVindel,exonic,POLR2A,NA,synonymous SNV,POLR2A:NM_000937:exon17:c.G2880A:p.R960R,NA,NA,NA,NA,NA,NA
chr17,7484090,7484090,C,T,R007_S,CD68,Missense_Mutation,NM_001040059,exon4,c.C668T,p.P223L,SNP,SNVindel,exonic,CD68,NA,nonsynonymous SNV,"CD68:NM_001040059:exon4:c.C668T:p.P223L,CD68:NM_001251:exon4:c.C749T:p.P250L",T,N,D,T,D,T
chr17,7536645,7536645,G,A,R007_S,SHBG,Missense_Mutation,NM_001146281,exon6,c.G839A,p.G280D,SNP,SNVindel,exonic,SHBG,NA,nonsynonymous SNV,"SHBG:NM_001146281:exon6:c.G839A:p.G280D,SHBG:NM_001040:exon8:c.G1184A:p.G395D,SHBG:NM_001146279:exon8:c.G1130A:p.G377D,SHBG:NM_001289113:exon8:c.G1010A:p.G337D,SHBG:NM_001289114:exon8:c.G1010A:p.G337D,SHBG:NM_001289116:exon8:c.G836A:p.G279D",T,N,D,D,N,T
chr17,7749225,7749225,C,T,R007_S,KDM6B,Missense_Mutation,NM_001080424,exon5,c.C173T,p.A58V,SNP,SNVindel,exonic,KDM6B,NA,nonsynonymous SNV,"KDM6B:NM_001080424:exon5:c.C173T:p.A58V,KDM6B:NM_001348716:exon5:c.C173T:p.A58V",D,N,D,T,N,T
chr17,7798292,7798292,G,A,R007_S,CHD3,Missense_Mutation,NM_001005271,exon9,c.G1504A,p.G502R,SNP,SNVindel,exonic,CHD3,NA,nonsynonymous SNV,"CHD3:NM_001005271:exon9:c.G1504A:p.G502R,CHD3:NM_001005273:exon9:c.G1327A:p.G443R,CHD3:NM_005852:exon9:c.G1327A:p.G443R",T,D,D,T,N,T
chr17,7836573,7836573,C,T,R007_S,CNTROB,Missense_Mutation,NM_001037144,exon1,c.C176T,p.P59L,SNP,SNVindel,exonic,CNTROB,NA,nonsynonymous SNV,"CNTROB:NM_001037144:exon1:c.C176T:p.P59L,CNTROB:NM_001330124:exon1:c.C176T:p.P59L,CNTROB:NM_001353202:exon1:c.C176T:p.P59L,CNTROB:NM_053051:exon1:c.C176T:p.P59L,CNTROB:NM_001353203:exon2:c.C176T:p.P59L,CNTROB:NM_001353206:exon2:c.C176T:p.P59L,CNTROB:NM_001353207:exon2:c.C176T:p.P59L,CNTROB:NM_001353208:exon2:c.C176T:p.P59L,CNTROB:NM_001353209:exon2:c.C176T:p.P59L",T,N,N,T,N,T
chr17,7915546,7915546,G,A,R007_S,GUCY2D,Missense_Mutation,NM_000180,exon9,c.G1834A,p.E612K,SNP,SNVindel,exonic,GUCY2D,NA,nonsynonymous SNV,GUCY2D:NM_000180:exon9:c.G1834A:p.E612K,T,N,N,D,N,T
chr17,8000006,8000006,C,T,R007_S,ALOXE3,Missense_Mutation,NM_001369446,exon15,c.G2072A,p.G691D,SNP,SNVindel,exonic,ALOXE3,NA,nonsynonymous SNV,"ALOXE3:NM_001369446:exon15:c.G2072A:p.G691D,ALOXE3:NM_001165960:exon16:c.G2471A:p.G824D,ALOXE3:NM_021628:exon16:c.G2075A:p.G692D",T,N,N,D,N,T
chr17,8020149,8020149,G,A,R007_S,ALOXE3,Silent,NM_001369446,exon2,c.C297T,p.F99F,SNP,SNVindel,exonic,ALOXE3,NA,synonymous SNV,"ALOXE3:NM_001369446:exon2:c.C297T:p.F99F,ALOXE3:NM_001165960:exon3:c.C693T:p.F231F,ALOXE3:NM_021628:exon3:c.C297T:p.F99F",NA,NA,NA,NA,NA,NA
chr17,8048121,8048121,C,T,R007_S,PER1,Silent,NM_002616,exon18,c.G2409A,p.R803R,SNP,SNVindel,exonic,PER1,NA,synonymous SNV,PER1:NM_002616:exon18:c.G2409A:p.R803R,NA,NA,NA,NA,NA,NA
chr17,8049980,8049980,C,T,R007_S,PER1,Silent,NM_002616,exon15,c.G1839A,p.E613E,SNP,SNVindel,exonic,PER1,NA,synonymous SNV,PER1:NM_002616:exon15:c.G1839A:p.E613E,NA,NA,NA,NA,NA,NA
chr17,8092868,8092868,G,A,R007_S,BORCS6,Silent,NM_017622,exon1,c.C591T,p.I197I,SNP,SNVindel,exonic,BORCS6,NA,synonymous SNV,BORCS6:NM_017622:exon1:c.C591T:p.I197I,NA,NA,NA,NA,NA,NA
chr17,8133689,8133689,G,A,R007_S,CTC1,Silent,NM_025099,exon17,c.C2856T,p.D952D,SNP,SNVindel,exonic,CTC1,NA,synonymous SNV,CTC1:NM_025099:exon17:c.C2856T:p.D952D,NA,NA,NA,NA,NA,NA
chr17,8161142,8161142,G,A,R007_S,PFAS,Missense_Mutation,NM_012393,exon10,c.G1093A,p.E365K,SNP,SNVindel,exonic,PFAS,NA,nonsynonymous SNV,PFAS:NM_012393:exon10:c.G1093A:p.E365K,D,D,D,T,D,T
chr17,8168696,8168696,G,A,R007_S,PFAS,Missense_Mutation,NM_012393,exon19,c.G2371A,p.V791M,SNP,SNVindel,exonic,PFAS,NA,nonsynonymous SNV,PFAS:NM_012393:exon19:c.G2371A:p.V791M,T,D,D,T,N,T
chr17,8170379,8170379,G,A,R007_S,PFAS,Missense_Mutation,NM_012393,exon24,c.G3001A,p.E1001K,SNP,SNVindel,exonic,PFAS,NA,nonsynonymous SNV,PFAS:NM_012393:exon24:c.G3001A:p.E1001K,T,D,D,T,N,T
chr17,8218394,8218394,C,T,R007_S,ARHGEF15,Silent,NM_025014,exon6,c.C1059T,p.Y353Y,SNP,SNVindel,exonic,ARHGEF15,NA,synonymous SNV,"ARHGEF15:NM_025014:exon6:c.C1059T:p.Y353Y,ARHGEF15:NM_173728:exon6:c.C1059T:p.Y353Y",NA,NA,NA,NA,NA,NA
chr17,8219374,8219374,C,T,R007_S,ARHGEF15,Silent,NM_025014,exon9,c.C1612T,p.L538L,SNP,SNVindel,exonic,ARHGEF15,NA,synonymous SNV,"ARHGEF15:NM_025014:exon9:c.C1612T:p.L538L,ARHGEF15:NM_173728:exon9:c.C1612T:p.L538L",NA,NA,NA,NA,NA,NA
chr17,8387487,8387487,C,T,R007_S,MYH10,Missense_Mutation,NM_005964,exon35,c.G5051A,p.S1684N,SNP,SNVindel,exonic,MYH10,NA,nonsynonymous SNV,"MYH10:NM_005964:exon35:c.G5051A:p.S1684N,MYH10:NM_001256095:exon36:c.G5078A:p.S1693N,MYH10:NM_001256012:exon37:c.G5144A:p.S1715N",T,D,D,T,N,T
chr17,8408041,8408041,C,T,R007_S,MYH10,Silent,NM_005964,exon26,c.G3477A,p.L1159L,SNP,SNVindel,exonic,MYH10,NA,synonymous SNV,"MYH10:NM_005964:exon26:c.G3477A:p.L1159L,MYH10:NM_001256095:exon27:c.G3504A:p.L1168L,MYH10:NM_001256012:exon28:c.G3570A:p.L1190L",NA,NA,NA,NA,NA,NA
chr17,8661680,8661680,G,A,R007_S,SPDYE4,Silent,NM_001128076,exon1,c.C21T,p.R7R,SNP,SNVindel,exonic,SPDYE4,NA,synonymous SNV,SPDYE4:NM_001128076:exon1:c.C21T:p.R7R,NA,NA,NA,NA,NA,NA
chr17,8791699,8791699,G,A,R007_S,PIK3R5,Missense_Mutation,NM_001251852,exon9,c.C247T,p.P83S,SNP,SNVindel,exonic,PIK3R5,NA,nonsynonymous SNV,"PIK3R5:NM_001251852:exon9:c.C247T:p.P83S,PIK3R5:NM_001251853:exon9:c.C247T:p.P83S,PIK3R5:NM_001251855:exon9:c.C247T:p.P83S,PIK3R5:NM_001142633:exon10:c.C1405T:p.P469S,PIK3R5:NM_001251851:exon10:c.C247T:p.P83S,PIK3R5:NM_014308:exon10:c.C1405T:p.P469S",D,N,N,T,N,T
chr17,9792731,9792731,C,T,R007_S,GLP2R,Silent,NM_004246,exon13,c.C1371T,p.A457A,SNP,SNVindel,exonic,GLP2R,NA,synonymous SNV,GLP2R:NM_004246:exon13:c.C1371T:p.A457A,NA,NA,NA,NA,NA,NA
chr17,10317781,10317781,C,T,R007_S,MYH8,Missense_Mutation,NM_002472,exon10,c.G826A,p.V276I,SNP,SNVindel,exonic,MYH8,NA,nonsynonymous SNV,MYH8:NM_002472:exon10:c.G826A:p.V276I,D,U,D,T,N,D
chr17,10395797,10395797,G,A,R007_S,MYH1,Missense_Mutation,NM_005963,exon40,c.C5756T,p.S1919F,SNP,SNVindel,exonic,MYH1,NA,nonsynonymous SNV,MYH1:NM_005963:exon40:c.C5756T:p.S1919F,D,U,D,T,D,D
chr17,10419881,10419881,C,T,R007_S,MYH1,Missense_Mutation,NM_005963,exon3,c.G79A,p.A27T,SNP,SNVindel,exonic,MYH1,NA,nonsynonymous SNV,MYH1:NM_005963:exon3:c.G79A:p.A27T,D,U,D,D,N,T
chr17,10451187,10451187,G,A,R007_S,MYH2,Silent,NM_001100112,exon3,c.C51T,p.L17L,SNP,SNVindel,exonic,MYH2,NA,synonymous SNV,"MYH2:NM_001100112:exon3:c.C51T:p.L17L,MYH2:NM_017534:exon3:c.C51T:p.L17L",NA,NA,NA,NA,NA,NA
chr17,10535220,10535220,C,T,R007_S,MYH3,Silent,NM_002470,exon35,c.G5070A,p.R1690R,SNP,SNVindel,exonic,MYH3,NA,synonymous SNV,MYH3:NM_002470:exon35:c.G5070A:p.R1690R,NA,NA,NA,NA,NA,NA
chr17,11645566,11645566,C,T,R007_S,DNAH9,Missense_Mutation,NM_001372,exon30,c.C6047T,p.A2016V,SNP,SNVindel,exonic,DNAH9,NA,nonsynonymous SNV,DNAH9:NM_001372:exon30:c.C6047T:p.A2016V,D,D,D,T,D,T
chr17,11725811,11725811,C,T,R007_S,DNAH9,Silent,NM_001372,exon47,c.C8907T,p.F2969F,SNP,SNVindel,exonic,DNAH9,NA,synonymous SNV,DNAH9:NM_001372:exon47:c.C8907T:p.F2969F,NA,NA,NA,NA,NA,NA
chr17,11881515,11881515,C,T,R007_S,ZNF18,Missense_Mutation,NM_001303281,exon7,c.G1409A,p.G470E,SNP,SNVindel,exonic,ZNF18,NA,nonsynonymous SNV,"ZNF18:NM_001303281:exon7:c.G1409A:p.G470E,ZNF18:NM_001303282:exon7:c.G1406A:p.G469E,ZNF18:NM_144680:exon9:c.G1409A:p.G470E",D,D,D,T,D,T
chr17,12655876,12655876,C,T,R007_S,MYOCD,Missense_Mutation,NM_001146312,exon10,c.C1271T,p.P424L,SNP,SNVindel,exonic,MYOCD,NA,nonsynonymous SNV,"MYOCD:NM_001146312:exon10:c.C1271T:p.P424L,MYOCD:NM_153604:exon10:c.C1271T:p.P424L",D,N,D,T,D,T
chr17,12914989,12914989,G,A,R007_S,ELAC2,Missense_Mutation,NM_018127,exon7,c.C670T,p.L224F,SNP,SNVindel,exonic,ELAC2,NA,nonsynonymous SNV,"ELAC2:NM_018127:exon7:c.C670T:p.L224F,ELAC2:NM_173717:exon7:c.C670T:p.L224F",T,N,N,T,N,T
chr17,12920407,12920407,T,C,R007_S,ELAC2,Missense_Mutation,NM_001165962,exon2,c.A277G,p.R93G,SNP,SNVindel,exonic,ELAC2,NA,nonsynonymous SNV,"ELAC2:NM_001165962:exon2:c.A277G:p.R93G,ELAC2:NM_018127:exon2:c.A277G:p.R93G,ELAC2:NM_173717:exon2:c.A277G:p.R93G",D,D,D,T,D,T
chr17,13980168,13980168,G,A,R007_S,COX10,Silent,NM_001303,exon3,c.G294A,p.E98E,SNP,SNVindel,exonic,COX10,NA,synonymous SNV,COX10:NM_001303:exon3:c.G294A:p.E98E,NA,NA,NA,NA,NA,NA
chr17,15884380,15884380,C,T,R007_S,ZSWIM7,Missense_Mutation,NM_001042697,exon4,c.G280A,p.V94M,SNP,SNVindel,exonic,ZSWIM7,NA,nonsynonymous SNV,"ZSWIM7:NM_001042697:exon4:c.G280A:p.V94M,ZSWIM7:NM_001042698:exon4:c.G280A:p.V94M",D,U,D,.,D,D
chr17,16538020,16538020,C,T,R007_S,ZNF624,Nonsense_Mutation,NM_020787,exon4,c.G204A,p.W68X,SNP,SNVindel,exonic,ZNF624,NA,stopgain,ZNF624:NM_020787:exon4:c.G204A:p.W68X,.,.,A,.,.,.
chr17,17069380,17069380,C,T,R007_S,MPRIP,Missense_Mutation,NM_001364716,exon16,c.C4571T,p.A1524V,SNP,SNVindel,exonic,MPRIP,NA,nonsynonymous SNV,MPRIP:NM_001364716:exon16:c.C4571T:p.A1524V,NA,NA,NA,NA,NA,NA
chr17,17109576,17109576,C,T,R007_S,PLD6,Missense_Mutation,NM_178836,exon1,c.G25A,p.A9T,SNP,SNVindel,exonic,PLD6,NA,nonsynonymous SNV,PLD6:NM_178836:exon1:c.G25A:p.A9T,T,U,N,T,N,T
chr17,17698720,17698720,G,A,R007_S,RAI1,Missense_Mutation,NM_030665,exon3,c.G2458A,p.E820K,SNP,SNVindel,exonic,RAI1,NA,nonsynonymous SNV,RAI1:NM_030665:exon3:c.G2458A:p.E820K,T,D,D,T,N,T
chr17,17700343,17700343,C,T,R007_S,RAI1,Missense_Mutation,NM_030665,exon3,c.C4081T,p.L1361F,SNP,SNVindel,exonic,RAI1,NA,nonsynonymous SNV,RAI1:NM_030665:exon3:c.C4081T:p.L1361F,T,N,N,T,N,T
chr17,17720296,17720296,C,T,R007_S,SREBF1,Silent,NM_001321096,exon9,c.G1689A,p.K563K,SNP,SNVindel,exonic,SREBF1,NA,synonymous SNV,"SREBF1:NM_001321096:exon9:c.G1689A:p.K563K,SREBF1:NM_004176:exon9:c.G1761A:p.K587K,SREBF1:NM_001005291:exon10:c.G1851A:p.K617K",NA,NA,NA,NA,NA,NA
chr17,17787980,17787980,C,T,R007_S,TOM1L2,Missense_Mutation,NM_001033551,exon4,c.G319A,p.D107N,SNP,SNVindel,exonic,TOM1L2,NA,nonsynonymous SNV,"TOM1L2:NM_001033551:exon4:c.G319A:p.D107N,TOM1L2:NM_001082968:exon5:c.G469A:p.D157N,TOM1L2:NM_001288786:exon5:c.G469A:p.D157N,TOM1L2:NM_001350332:exon5:c.G469A:p.D157N,TOM1L2:NM_001350333:exon5:c.G469A:p.D157N",T,D,D,T,D,T
chr17,18053782,18053782,G,A,R007_S,MYO15A,Missense_Mutation,NM_016239,exon35,c.G7252A,p.G2418R,SNP,SNVindel,exonic,MYO15A,NA,nonsynonymous SNV,MYO15A:NM_016239:exon35:c.G7252A:p.G2418R,D,.,D,D,D,D
chr17,18150093,18150093,C,T,R007_S,FLII,Missense_Mutation,NM_001256265,exon22,c.G2701A,p.E901K,SNP,SNVindel,exonic,FLII,NA,nonsynonymous SNV,"FLII:NM_001256265:exon22:c.G2701A:p.E901K,FLII:NM_001256264:exon23:c.G2833A:p.E945K,FLII:NM_002018:exon23:c.G2866A:p.E956K",T,N,N,T,N,T
chr17,18638330,18638330,G,A,R007_S,TRIM16L,Missense_Mutation,NM_001037330,exon5,c.G604A,p.V202M,SNP,SNVindel,exonic,TRIM16L,NA,nonsynonymous SNV,"TRIM16L:NM_001037330:exon5:c.G604A:p.V202M,TRIM16L:NM_001353224:exon6:c.G604A:p.V202M,TRIM16L:NM_001353221:exon8:c.G910A:p.V304M,TRIM16L:NM_001353219:exon9:c.G766A:p.V256M,TRIM16L:NM_001353222:exon10:c.G604A:p.V202M,TRIM16L:NM_001353220:exon11:c.G604A:p.V202M,TRIM16L:NM_001353223:exon11:c.G604A:p.V202M",D,U,D,T,D,T
chr17,18925385,18925385,G,A,R007_S,GRAP,Missense_Mutation,NM_006613,exon5,c.C541T,p.R181C,SNP,SNVindel,exonic,GRAP,NA,nonsynonymous SNV,GRAP:NM_006613:exon5:c.C541T:p.R181C,D,D,D,T,D,T
chr17,19186754,19186754,G,A,R007_S,EPN2,Missense_Mutation,NM_014964,exon3,c.G322A,p.D108N,SNP,SNVindel,exonic,EPN2,NA,nonsynonymous SNV,"EPN2:NM_014964:exon3:c.G322A:p.D108N,EPN2:NM_148921:exon3:c.G322A:p.D108N",D,D,D,T,D,T
chr17,19284288,19284288,C,T,R007_S,MAPK7,Silent,NM_139032,exon2,c.C349T,p.L117L,SNP,SNVindel,exonic,MAPK7,NA,synonymous SNV,"MAPK7:NM_139032:exon2:c.C349T:p.L117L,MAPK7:NM_002749:exon4:c.C766T:p.L256L,MAPK7:NM_139033:exon4:c.C766T:p.L256L,MAPK7:NM_139034:exon4:c.C766T:p.L256L",NA,NA,NA,NA,NA,NA
chr17,19463522,19463522,G,A,R007_S,SLC47A1,Missense_Mutation,NM_018242,exon11,c.G943A,p.A315T,SNP,SNVindel,exonic,SLC47A1,NA,nonsynonymous SNV,SLC47A1:NM_018242:exon11:c.G943A:p.A315T,D,D,D,T,D,D
chr17,19861857,19861857,T,C,R007_S,AKAP10,Missense_Mutation,NM_001330152,exon4,c.A347G,p.Q116R,SNP,SNVindel,exonic,AKAP10,NA,nonsynonymous SNV,"AKAP10:NM_001330152:exon4:c.A347G:p.Q116R,AKAP10:NM_007202:exon4:c.A347G:p.Q116R",T,D,D,T,N,T
chr17,21205536,21205536,A,C,R007_S,MAP2K3,Missense_Mutation,NM_002756,exon6,c.A394C,p.I132L,SNP,SNVindel,exonic,MAP2K3,NA,nonsynonymous SNV,"MAP2K3:NM_002756:exon6:c.A394C:p.I132L,MAP2K3:NM_145109:exon6:c.A481C:p.I161L,MAP2K3:NM_001316332:exon7:c.A394C:p.I132L",T,D,D,T,N,T
chr17,25919649,25919649,G,A,R007_S,KSR1,Silent,NM_001367810,exon8,c.G1296A,p.K432K,SNP,SNVindel,exonic,KSR1,NA,synonymous SNV,"KSR1:NM_001367810:exon8:c.G1296A:p.K432K,KSR1:NM_014238:exon9:c.G885A:p.K295K",NA,NA,NA,NA,NA,NA
chr17,26084289,26084289,C,T,R007_S,NOS2,Missense_Mutation,NM_000625,exon27,c.G3445A,p.E1149K,SNP,SNVindel,exonic,NOS2,NA,nonsynonymous SNV,NOS2:NM_000625:exon27:c.G3445A:p.E1149K,T,N,N,T,N,T
chr17,26115855,26115855,G,A,R007_S,NOS2,Missense_Mutation,NM_000625,exon4,c.C298T,p.L100F,SNP,SNVindel,exonic,NOS2,NA,nonsynonymous SNV,NOS2:NM_000625:exon4:c.C298T:p.L100F,D,D,D,T,D,T
chr17,26678820,26678820,G,A,R007_S,POLDIP2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,POLDIP2,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr17,26691523,26691523,G,A,R007_S,SEBOX,Missense_Mutation,NM_001080837,exon3,c.C340T,p.P114S,SNP,SNVindel,exonic,SEBOX,NA,nonsynonymous SNV,SEBOX:NM_001080837:exon3:c.C340T:p.P114S,.,N,N,.,.,T
chr17,26696767,26696767,G,A,R007_S,VTN,Missense_Mutation,NM_000638,exon3,c.C290T,p.S97F,SNP,SNVindel,exonic,VTN,NA,nonsynonymous SNV,VTN:NM_000638:exon3:c.C290T:p.S97F,D,N,N,T,N,T
chr17,26732108,26732108,G,A,R007_S,SLC46A1,Missense_Mutation,NM_001242366,exon2,c.C607T,p.L203F,SNP,SNVindel,exonic,SLC46A1,NA,nonsynonymous SNV,"SLC46A1:NM_001242366:exon2:c.C607T:p.L203F,SLC46A1:NM_080669:exon2:c.C607T:p.L203F",.,D,D,T,.,T
chr17,26920033,26920033,C,T,R007_S,SPAG5,Missense_Mutation,NM_006461,exon3,c.G229A,p.D77N,SNP,SNVindel,exonic,SPAG5,NA,nonsynonymous SNV,SPAG5:NM_006461:exon3:c.G229A:p.D77N,T,N,N,.,N,T
chr17,27013717,27013717,G,A,R007_S,SUPT6H,Silent,NM_003170,exon21,c.G2610A,p.E870E,SNP,SNVindel,exonic,SUPT6H,NA,synonymous SNV,"SUPT6H:NM_003170:exon21:c.G2610A:p.E870E,SUPT6H:NM_001320755:exon22:c.G2610A:p.E870E",NA,NA,NA,NA,NA,NA
chr17,27051565,27051565,G,A,R007_S,TLCD1,Missense_Mutation,NM_001160407,exon4,c.C566T,p.P189L,SNP,SNVindel,exonic,TLCD1,NA,nonsynonymous SNV,"TLCD1:NM_001160407:exon4:c.C566T:p.P189L,TLCD1:NM_138463:exon4:c.C707T:p.P236L",T,N,N,.,N,T
chr17,27076163,27076163,G,A,R007_S,TRAF4,Silent,NM_004295,exon7,c.G981A,p.K327K,SNP,SNVindel,exonic,TRAF4,NA,synonymous SNV,TRAF4:NM_004295:exon7:c.G981A:p.K327K,NA,NA,NA,NA,NA,NA
chr17,27085483,27085483,C,T,R007_S,FAM222B,Silent,NM_001077498,exon3,c.G1494A,p.G498G,SNP,SNVindel,exonic,FAM222B,NA,synonymous SNV,"FAM222B:NM_001077498:exon3:c.G1494A:p.G498G,FAM222B:NM_001288634:exon3:c.G1494A:p.G498G,FAM222B:NM_001288640:exon3:c.G1110A:p.G370G,FAM222B:NM_001288631:exon4:c.G1500A:p.G500G,FAM222B:NM_001288633:exon4:c.G1494A:p.G498G,FAM222B:NM_001288635:exon4:c.G1494A:p.G498G,FAM222B:NM_001288639:exon4:c.G1110A:p.G370G,FAM222B:NM_018182:exon4:c.G1494A:p.G498G,FAM222B:NM_001288632:exon5:c.G1494A:p.G498G,FAM222B:NM_001288637:exon5:c.G1110A:p.G370G,FAM222B:NM_001288638:exon5:c.G1110A:p.G370G,FAM222B:NM_001288636:exon6:c.G1110A:p.G370G",NA,NA,NA,NA,NA,NA
chr17,27383274,27383274,C,T,R007_S,PIPOX,Missense_Mutation,NM_016518,exon8,c.C1124T,p.A375V,SNP,SNVindel,exonic,PIPOX,NA,nonsynonymous SNV,PIPOX:NM_016518:exon8:c.C1124T:p.A375V,T,N,D,D,N,T
chr17,27958866,27958866,G,A,R007_S,SSH2,Missense_Mutation,NM_033389,exon15,c.C3265T,p.P1089S,SNP,SNVindel,exonic,SSH2,NA,nonsynonymous SNV,"SSH2:NM_033389:exon15:c.C3265T:p.P1089S,SSH2:NM_001282129:exon16:c.C3346T:p.P1116S",D,N,N,T,N,T
chr17,27963599,27963599,G,A,R007_S,SSH2,Missense_Mutation,NM_033389,exon14,c.C1568T,p.T523I,SNP,SNVindel,exonic,SSH2,NA,nonsynonymous SNV,"SSH2:NM_033389:exon14:c.C1568T:p.T523I,SSH2:NM_001282129:exon15:c.C1649T:p.T550I",D,N,N,T,N,T
chr17,28295992,28295992,G,A,R007_S,EFCAB5,Missense_Mutation,NM_001145053,exon4,c.G206A,p.R69K,SNP,SNVindel,exonic,EFCAB5,NA,nonsynonymous SNV,"EFCAB5:NM_001145053:exon4:c.G206A:p.R69K,EFCAB5:NM_198529:exon4:c.G374A:p.R125K",T,.,D,T,D,T
chr17,28614868,28614868,G,A,R007_S,BLMH,Missense_Mutation,NM_000386,exon4,c.C419T,p.P140L,SNP,SNVindel,exonic,BLMH,NA,nonsynonymous SNV,BLMH:NM_000386:exon4:c.C419T:p.P140L,D,D,D,T,D,T
chr17,29151587,29151587,C,T,R007_S,CRLF3,Missense_Mutation,NM_015986,exon1,c.G83A,p.R28Q,SNP,SNVindel,exonic,CRLF3,NA,nonsynonymous SNV,CRLF3:NM_015986:exon1:c.G83A:p.R28Q,T,D,D,T,N,T
chr17,29196577,29196577,G,A,R007_S,ATAD5,Missense_Mutation,NM_024857,exon14,c.G3520A,p.A1174T,SNP,SNVindel,exonic,ATAD5,NA,nonsynonymous SNV,ATAD5:NM_024857:exon14:c.G3520A:p.A1174T,D,D,D,T,D,T
chr17,29249960,29249960,C,T,R007_S,ADAP2,Missense_Mutation,NM_001346712,exon2,c.C97T,p.P33S,SNP,SNVindel,exonic,ADAP2,NA,nonsynonymous SNV,"ADAP2:NM_001346712:exon2:c.C97T:p.P33S,ADAP2:NM_001346714:exon2:c.C97T:p.P33S,ADAP2:NM_001346716:exon2:c.C97T:p.P33S,ADAP2:NM_018404:exon2:c.C97T:p.P33S",D,D,D,T,D,D
chr17,29587473,29587473,C,T,R007_S,NF1,Missense_Mutation,NM_000267,exon33,c.C4454T,p.A1485V,SNP,SNVindel,exonic,NF1,NA,nonsynonymous SNV,"NF1:NM_000267:exon33:c.C4454T:p.A1485V,NF1:NM_001042492:exon34:c.C4517T:p.A1506V",D,D,D,D,D,D
chr17,29647411,29647411,C,T,R007_S,EVI2A,Silent,NM_001003927,exon2,c.G39A,p.Q13Q,SNP,SNVindel,exonic,EVI2A,NA,synonymous SNV,EVI2A:NM_001003927:exon2:c.G39A:p.Q13Q,NA,NA,NA,NA,NA,NA
chr17,29844750,29844750,G,A,R007_S,RAB11FIP4,Missense_Mutation,NM_001303542,exon2,c.G112A,p.E38K,SNP,SNVindel,exonic,RAB11FIP4,NA,nonsynonymous SNV,"RAB11FIP4:NM_001303542:exon2:c.G112A:p.E38K,RAB11FIP4:NM_001346747:exon2:c.G112A:p.E38K,RAB11FIP4:NM_032932:exon4:c.G418A:p.E140K",.,N,D,.,.,T
chr17,30221727,30221727,C,T,R007_S,UTP6,Silent,NM_018428,exon4,c.G249A,p.E83E,SNP,SNVindel,exonic,UTP6,NA,synonymous SNV,UTP6:NM_018428:exon4:c.G249A:p.E83E,NA,NA,NA,NA,NA,NA
chr17,30980948,30980948,C,T,R007_S,MYO1D,Silent,NM_001303279,exon19,c.G2508A,p.Q836Q,SNP,SNVindel,exonic,MYO1D,NA,synonymous SNV,"MYO1D:NM_001303279:exon19:c.G2508A:p.Q836Q,MYO1D:NM_015194:exon19:c.G2508A:p.Q836Q",NA,NA,NA,NA,NA,NA
chr17,33448838,33448838,C,T,R007_S,FNDC8,Silent,NM_017559,exon1,c.C126T,p.N42N,SNP,SNVindel,exonic,FNDC8,NA,synonymous SNV,FNDC8:NM_017559:exon1:c.C126T:p.N42N,NA,NA,NA,NA,NA,NA
chr17,33501300,33501300,C,T,R007_S,UNC45B,Silent,NM_001308281,exon11,c.C1633T,p.L545L,SNP,SNVindel,exonic,UNC45B,NA,synonymous SNV,"UNC45B:NM_001308281:exon11:c.C1633T:p.L545L,UNC45B:NM_173167:exon13:c.C1876T:p.L626L,UNC45B:NM_001033576:exon14:c.C1870T:p.L624L,UNC45B:NM_001267052:exon14:c.C1870T:p.L624L",NA,NA,NA,NA,NA,NA
chr17,33679652,33679652,G,A,R007_S,SLFN11,Missense_Mutation,NM_152270,exon5,c.C2429T,p.A810V,SNP,SNVindel,exonic,SLFN11,NA,nonsynonymous SNV,"SLFN11:NM_152270:exon5:c.C2429T:p.A810V,SLFN11:NM_001104589:exon6:c.C2429T:p.A810V,SLFN11:NM_001104587:exon7:c.C2429T:p.A810V,SLFN11:NM_001104588:exon7:c.C2429T:p.A810V,SLFN11:NM_001104590:exon7:c.C2429T:p.A810V",D,D,N,D,D,D
chr17,33768287,33768287,C,T,R007_S,SLFN13,Missense_Mutation,NM_144682,exon6,c.G2021A,p.R674H,SNP,SNVindel,exonic,SLFN13,NA,nonsynonymous SNV,SLFN13:NM_144682:exon6:c.G2021A:p.R674H,T,N,N,D,D,T
chr17,34072785,34072785,G,A,R007_S,GAS2L2,Silent,NM_139285,exon6,c.C1731T,p.D577D,SNP,SNVindel,exonic,GAS2L2,NA,synonymous SNV,GAS2L2:NM_139285:exon6:c.C1731T:p.D577D,NA,NA,NA,NA,NA,NA
chr17,34171693,34171693,G,A,R007_S,TAF15,Missense_Mutation,NM_003487,exon15,c.G1381A,p.G461S,SNP,SNVindel,exonic,TAF15,NA,nonsynonymous SNV,"TAF15:NM_003487:exon15:c.G1381A:p.G461S,TAF15:NM_139215:exon15:c.G1390A:p.G464S",.,.,D,D,.,T
chr17,35564658,35564658,C,T,R007_S,ACACA,Missense_Mutation,NM_198837,exon29,c.G3479A,p.S1160N,SNP,SNVindel,exonic,ACACA,NA,nonsynonymous SNV,"ACACA:NM_198837:exon29:c.G3479A:p.S1160N,ACACA:NM_198838:exon30:c.G3419A:p.S1140N,ACACA:NM_198834:exon31:c.G3764A:p.S1255N,ACACA:NM_198836:exon31:c.G3653A:p.S1218N,ACACA:NM_198839:exon35:c.G3653A:p.S1218N",.,D,D,.,.,T
chr17,35609898,35609898,G,A,R007_S,ACACA,Silent,NM_198837,exon13,c.C1606T,p.L536L,SNP,SNVindel,exonic,ACACA,NA,synonymous SNV,"ACACA:NM_198837:exon13:c.C1606T:p.L536L,ACACA:NM_198838:exon14:c.C1546T:p.L516L,ACACA:NM_198834:exon15:c.C1891T:p.L631L,ACACA:NM_198836:exon15:c.C1780T:p.L594L,ACACA:NM_198839:exon19:c.C1780T:p.L594L",NA,NA,NA,NA,NA,NA
chr17,35902228,35902228,G,A,R007_S,SYNRG,Silent,NM_001163547,exon13,c.C2430T,p.T810T,SNP,SNVindel,exonic,SYNRG,NA,synonymous SNV,"SYNRG:NM_001163547:exon13:c.C2430T:p.T810T,SYNRG:NM_001163544:exon14:c.C2814T:p.T938T,SYNRG:NM_001163545:exon14:c.C2811T:p.T937T,SYNRG:NM_001163546:exon14:c.C2679T:p.T893T,SYNRG:NM_080550:exon14:c.C2814T:p.T938T,SYNRG:NM_198882:exon14:c.C2814T:p.T938T,SYNRG:NM_007247:exon15:c.C3048T:p.T1016T",NA,NA,NA,NA,NA,NA
chr17,36483642,36483642,G,A,R007_S,GPR179,Missense_Mutation,NM_001004334,exon11,c.C5810T,p.A1937V,SNP,SNVindel,exonic,GPR179,NA,nonsynonymous SNV,GPR179:NM_001004334:exon11:c.C5810T:p.A1937V,.,N,N,.,.,T
chr17,36484110,36484110,G,A,R007_S,GPR179,Missense_Mutation,NM_001004334,exon11,c.C5342T,p.A1781V,SNP,SNVindel,exonic,GPR179,NA,nonsynonymous SNV,GPR179:NM_001004334:exon11:c.C5342T:p.A1781V,.,N,N,.,.,T
chr17,36623123,36623123,C,T,R007_S,ARHGAP23,Missense_Mutation,NM_001199417,exon7,c.C1199T,p.P400L,SNP,SNVindel,exonic,ARHGAP23,NA,nonsynonymous SNV,ARHGAP23:NM_001199417:exon7:c.C1199T:p.P400L,.,.,N,.,.,T
chr17,36869022,36869022,G,A,R007_S,MLLT6,Missense_Mutation,NM_005937,exon8,c.G799A,p.V267M,SNP,SNVindel,exonic,MLLT6,NA,nonsynonymous SNV,MLLT6:NM_005937:exon8:c.G799A:p.V267M,.,N,N,.,.,T
chr17,37566630,37566630,C,T,R007_S,MED1,Missense_Mutation,NM_004774,exon17,c.G1844A,p.G615E,SNP,SNVindel,exonic,MED1,NA,nonsynonymous SNV,MED1:NM_004774:exon17:c.G1844A:p.G615E,D,.,D,T,N,T
chr17,37619356,37619356,G,A,R007_S,CDK12,Silent,NM_015083,exon1,c.G1032A,p.R344R,SNP,SNVindel,exonic,CDK12,NA,synonymous SNV,"CDK12:NM_015083:exon1:c.G1032A:p.R344R,CDK12:NM_016507:exon1:c.G1032A:p.R344R",NA,NA,NA,NA,NA,NA
chr17,37762499,37762499,G,A,R007_S,NEUROD2,Silent,NM_006160,exon2,c.C354T,p.R118R,SNP,SNVindel,exonic,NEUROD2,NA,synonymous SNV,NEUROD2:NM_006160:exon2:c.C354T:p.R118R,NA,NA,NA,NA,NA,NA
chr17,37864729,37864729,C,T,R007_S,ERBB2,Silent,NM_001289937,exon3,c.C381T,p.T127T,SNP,SNVindel,exonic,ERBB2,NA,synonymous SNV,"ERBB2:NM_001289937:exon3:c.C381T:p.T127T,ERBB2:NM_004448:exon3:c.C381T:p.T127T,ERBB2:NM_001005862:exon6:c.C291T:p.T97T,ERBB2:NM_001289938:exon6:c.C291T:p.T97T,ERBB2:NM_001289936:exon7:c.C336T:p.T112T",NA,NA,NA,NA,NA,NA
chr17,37885895,37885895,G,A,R007_S,MIEN1,Missense_Mutation,NM_001330206,exon3,c.C307T,p.P103S,SNP,SNVindel,exonic,MIEN1,NA,nonsynonymous SNV,MIEN1:NM_001330206:exon3:c.C307T:p.P103S,.,.,N,T,.,.
chr17,37899199,37899199,G,A,R007_S,GRB7,Missense_Mutation,NM_001030002,exon4,c.G355A,p.A119T,SNP,SNVindel,exonic,GRB7,NA,nonsynonymous SNV,"GRB7:NM_001030002:exon4:c.G355A:p.A119T,GRB7:NM_001242442:exon4:c.G424A:p.A142T,GRB7:NM_001242443:exon4:c.G355A:p.A119T,GRB7:NM_001330207:exon4:c.G355A:p.A119T,GRB7:NM_005310:exon4:c.G355A:p.A119T",T,D,D,T,N,T
chr17,37902191,37902191,C,T,R007_S,GRB7,Silent,NM_001030002,exon13,c.C1296T,p.F432F,SNP,SNVindel,exonic,GRB7,NA,synonymous SNV,"GRB7:NM_001030002:exon13:c.C1296T:p.F432F,GRB7:NM_001242442:exon13:c.C1365T:p.F455F,GRB7:NM_001242443:exon13:c.C1296T:p.F432F,GRB7:NM_005310:exon13:c.C1296T:p.F432F",NA,NA,NA,NA,NA,NA
chr17,38140660,38140660,G,A,R007_S,PSMD3,Missense_Mutation,NM_002809,exon2,c.G334A,p.V112I,SNP,SNVindel,exonic,PSMD3,NA,nonsynonymous SNV,PSMD3:NM_002809:exon2:c.G334A:p.V112I,T,D,D,D,N,T
chr17,38279628,38279628,G,A,R007_S,MSL1,Missense_Mutation,NM_001365919,exon1,c.G763A,p.D255N,SNP,SNVindel,exonic,MSL1,NA,nonsynonymous SNV,"MSL1:NM_001365919:exon1:c.G763A:p.D255N,MSL1:NM_001365920:exon1:c.G763A:p.D255N,MSL1:NM_001365921:exon1:c.G763A:p.D255N",D,D,D,.,N,T
chr17,38420950,38420950,C,T,R007_S,WIPF2,Silent,NM_133264,exon5,c.C522T,p.S174S,SNP,SNVindel,exonic,WIPF2,NA,synonymous SNV,WIPF2:NM_133264:exon5:c.C522T:p.S174S,NA,NA,NA,NA,NA,NA
chr17,38721658,38721658,C,T,R007_S,CCR7,Missense_Mutation,NM_001838,exon1,c.G4A,p.D2N,SNP,SNVindel,exonic,CCR7,NA,nonsynonymous SNV,CCR7:NM_001838:exon1:c.G4A:p.D2N,D,N,N,T,N,T
chr17,38926023,38926023,G,A,R007_S,KRT26,Nonsense_Mutation,NM_181539,exon5,c.C952T,p.Q318X,SNP,SNVindel,exonic,KRT26,NA,stopgain,KRT26:NM_181539:exon5:c.C952T:p.Q318X,.,D,A,.,.,.
chr17,38926235,38926235,G,A,R007_S,KRT26,Missense_Mutation,NM_181539,exon4,c.C821T,p.A274V,SNP,SNVindel,exonic,KRT26,NA,nonsynonymous SNV,KRT26:NM_181539:exon4:c.C821T:p.A274V,T,N,N,D,D,T
chr17,38928157,38928157,C,T,R007_S,KRT26,Missense_Mutation,NM_181539,exon1,c.G209A,p.G70D,SNP,SNVindel,exonic,KRT26,NA,nonsynonymous SNV,KRT26:NM_181539:exon1:c.G209A:p.G70D,D,D,N,D,D,T
chr17,38953509,38953509,C,T,R007_S,KRT28,Missense_Mutation,NM_181535,exon4,c.G715A,p.A239T,SNP,SNVindel,exonic,KRT28,NA,nonsynonymous SNV,KRT28:NM_181535:exon4:c.G715A:p.A239T,T,N,D,D,N,D
chr17,39081733,39081733,C,T,R007_S,KRT23,Missense_Mutation,NM_001282433,exon6,c.G604A,p.E202K,SNP,SNVindel,exonic,KRT23,NA,nonsynonymous SNV,"KRT23:NM_001282433:exon6:c.G604A:p.E202K,KRT23:NM_015515:exon7:c.G1015A:p.E339K",D,N,D,D,N,D
chr17,39185993,39185993,C,T,R007_S,KRTAP1-4,Missense_Mutation,NM_001257305,exon1,c.G338A,p.C113Y,SNP,SNVindel,exonic,KRTAP1-4,NA,nonsynonymous SNV,KRTAP1-4:NM_001257305:exon1:c.G338A:p.C113Y,D,D,.,T,D,T
chr17,39296497,39296497,G,A,R007_S,KRTAP4-6,Silent,NM_030976,exon1,c.C243T,p.R81R,SNP,SNVindel,exonic,KRTAP4-6,NA,synonymous SNV,KRTAP4-6:NM_030976:exon1:c.C243T:p.R81R,NA,NA,NA,NA,NA,NA
chr17,39346437,39346437,G,A,R007_S,KRTAP9-1,Missense_Mutation,NM_001190460,exon1,c.G299A,p.S100N,SNP,SNVindel,exonic,KRTAP9-1,NA,nonsynonymous SNV,KRTAP9-1:NM_001190460:exon1:c.G299A:p.S100N,T,.,N,T,N,T
chr17,39406382,39406382,C,T,R007_S,KRTAP9-4,Missense_Mutation,NM_033191,exon1,c.C410T,p.T137I,SNP,SNVindel,exonic,KRTAP9-4,NA,nonsynonymous SNV,KRTAP9-4:NM_033191:exon1:c.C410T:p.T137I,D,.,N,T,D,T
chr17,39522838,39522838,C,T,R007_S,KRT33B,Missense_Mutation,NM_002279,exon3,c.G472A,p.D158N,SNP,SNVindel,exonic,KRT33B,NA,nonsynonymous SNV,KRT33B:NM_002279:exon3:c.G472A:p.D158N,D,D,D,D,D,D
chr17,39596790,39596790,C,T,R007_S,KRT38,Silent,NM_006771,exon1,c.G384A,p.E128E,SNP,SNVindel,exonic,KRT38,NA,synonymous SNV,KRT38:NM_006771:exon1:c.G384A:p.E128E,NA,NA,NA,NA,NA,NA
chr17,39728108,39728108,C,T,R007_S,KRT9,Missense_Mutation,NM_000226,exon1,c.G137A,p.R46Q,SNP,SNVindel,exonic,KRT9,NA,nonsynonymous SNV,KRT9:NM_000226:exon1:c.G137A:p.R46Q,D,.,D,D,N,T
chr17,40010294,40010294,C,T,R007_S,KLHL11,Missense_Mutation,NM_018143,exon2,c.G1825A,p.D609N,SNP,SNVindel,exonic,KLHL11,NA,nonsynonymous SNV,KLHL11:NM_018143:exon2:c.G1825A:p.D609N,T,D,D,T,N,T
chr17,40253787,40253787,G,A,R007_S,DHX58,Silent,NM_024119,exon14,c.C2029T,p.L677L,SNP,SNVindel,exonic,DHX58,NA,synonymous SNV,DHX58:NM_024119:exon14:c.C2029T:p.L677L,NA,NA,NA,NA,NA,NA
chr17,40272773,40272773,C,T,R007_S,KAT2A,Silent,NM_021078,exon2,c.G414A,p.Q138Q,SNP,SNVindel,exonic,KAT2A,NA,synonymous SNV,KAT2A:NM_021078:exon2:c.G414A:p.Q138Q,NA,NA,NA,NA,NA,NA
chr17,40441484,40441484,C,T,R007_S,STAT5A,Nonsense_Mutation,NM_001288718,exon2,c.C55T,p.Q19X,SNP,SNVindel,exonic,STAT5A,NA,stopgain,"STAT5A:NM_001288718:exon2:c.C55T:p.Q19X,STAT5A:NM_001288719:exon2:c.C55T:p.Q19X,STAT5A:NM_001288720:exon2:c.C55T:p.Q19X,STAT5A:NM_003152:exon3:c.C55T:p.Q19X",.,D,A,.,.,.
chr17,40441489,40441489,G,C,R007_S,STAT5A,Silent,NM_001288718,exon2,c.G60C,p.V20V,SNP,SNVindel,exonic,STAT5A,NA,synonymous SNV,"STAT5A:NM_001288718:exon2:c.G60C:p.V20V,STAT5A:NM_001288719:exon2:c.G60C:p.V20V,STAT5A:NM_001288720:exon2:c.G60C:p.V20V,STAT5A:NM_003152:exon3:c.G60C:p.V20V",NA,NA,NA,NA,NA,NA
chr17,40854923,40854923,C,T,R007_S,EZH1,Missense_Mutation,NM_001321079,exon19,c.G2173A,p.A725T,SNP,SNVindel,exonic,EZH1,NA,nonsynonymous SNV,"EZH1:NM_001321079:exon19:c.G2173A:p.A725T,EZH1:NM_001321082:exon19:c.G2035A:p.A679T,EZH1:NM_001321081:exon20:c.G2128A:p.A710T,EZH1:NM_001991:exon20:c.G2155A:p.A719T",T,D,D,D,N,T
chr17,40934859,40934859,C,T,R007_S,WNK4,Silent,NM_032387,exon2,c.C702T,p.V234V,SNP,SNVindel,exonic,WNK4,NA,synonymous SNV,WNK4:NM_032387:exon2:c.C702T:p.V234V,NA,NA,NA,NA,NA,NA
chr17,40955680,40955680,C,T,R007_S,CNTD1,Missense_Mutation,NM_173478,exon2,c.C212T,p.S71F,SNP,SNVindel,exonic,CNTD1,NA,nonsynonymous SNV,CNTD1:NM_173478:exon2:c.C212T:p.S71F,.,D,D,T,.,T
chr17,41063014,41063014,C,T,R007_S,G6PC,Silent,NM_000151,exon5,c.C645T,p.F215F,SNP,SNVindel,exonic,G6PC,NA,synonymous SNV,G6PC:NM_000151:exon5:c.C645T:p.F215F,NA,NA,NA,NA,NA,NA
chr17,41107962,41107962,C,T,R007_S,AARSD1,Missense_Mutation,NM_001261434,exon7,c.G691A,p.G231R,SNP,SNVindel,exonic,AARSD1;PTGES3L-AARSD1,NA,nonsynonymous SNV,"AARSD1:NM_001261434:exon7:c.G691A:p.G231R,PTGES3L-AARSD1:NM_001136042:exon12:c.G1213A:p.G405R,PTGES3L-AARSD1:NM_025267:exon12:c.G1030A:p.G344R",D,D,.,T,D,T
chr17,41108477,41108477,C,T,R007_S,AARSD1,Missense_Mutation,NM_001261434,exon5,c.G490A,p.D164N,SNP,SNVindel,exonic,AARSD1;PTGES3L-AARSD1,NA,nonsynonymous SNV,"AARSD1:NM_001261434:exon5:c.G490A:p.D164N,PTGES3L-AARSD1:NM_001136042:exon10:c.G1012A:p.D338N,PTGES3L-AARSD1:NM_025267:exon10:c.G829A:p.D277N",T,N,.,T,N,T
chr17,41174321,41174321,C,T,R007_S,VAT1,Missense_Mutation,NM_006373,exon1,c.G19A,p.V7I,SNP,SNVindel,exonic,VAT1,NA,nonsynonymous SNV,VAT1:NM_006373:exon1:c.G19A:p.V7I,D,N,N,T,N,T
chr17,41180542,41180542,G,A,R007_S,RND2,Missense_Mutation,NM_005440,exon5,c.G529A,p.A177T,SNP,SNVindel,exonic,RND2,NA,nonsynonymous SNV,RND2:NM_005440:exon5:c.G529A:p.A177T,.,D,D,T,.,T
chr17,41852279,41852279,C,T,R007_S,DUSP3,Silent,NM_004090,exon2,c.G153A,p.L51L,SNP,SNVindel,exonic,DUSP3,NA,synonymous SNV,DUSP3:NM_004090:exon2:c.G153A:p.L51L,NA,NA,NA,NA,NA,NA
chr17,41939247,41939247,G,A,R007_S,CD300LG,Missense_Mutation,NM_145273,exon7,c.G967A,p.E323K,SNP,SNVindel,exonic,CD300LG,NA,nonsynonymous SNV,CD300LG:NM_145273:exon7:c.G967A:p.E323K,T,N,N,T,N,T
chr17,41957320,41957320,C,T,R007_S,MPP2,Missense_Mutation,NM_001278371,exon10,c.G1150A,p.E384K,SNP,SNVindel,exonic,MPP2,NA,nonsynonymous SNV,"MPP2:NM_001278371:exon10:c.G1150A:p.E384K,MPP2:NM_001278373:exon10:c.G1150A:p.E384K,MPP2:NM_001278374:exon10:c.G766A:p.E256K,MPP2:NM_001278375:exon10:c.G1150A:p.E384K,MPP2:NM_001278376:exon10:c.G1234A:p.E412K,MPP2:NM_001278370:exon11:c.G1318A:p.E440K,MPP2:NM_005374:exon11:c.G1183A:p.E395K,MPP2:NM_001278372:exon12:c.G1255A:p.E419K,MPP2:NM_001278381:exon12:c.G1183A:p.E395K",D,.,D,T,N,T
chr17,42083476,42083476,G,A,R007_S,NAGS,Silent,NM_153006,exon3,c.G786A,p.G262G,SNP,SNVindel,exonic,NAGS,NA,synonymous SNV,NAGS:NM_153006:exon3:c.G786A:p.G262G,NA,NA,NA,NA,NA,NA
chr17,42235201,42235201,G,A,R007_S,C17orf53,Missense_Mutation,NM_001171251,exon9,c.G1771A,p.D591N,SNP,SNVindel,exonic,C17orf53,NA,nonsynonymous SNV,"C17orf53:NM_001171251:exon9:c.G1771A:p.D591N,C17orf53:NM_001321311:exon9:c.G1768A:p.D590N,C17orf53:NM_024032:exon9:c.G1774A:p.D592N",T,N,D,T,N,T
chr17,42274619,42274619,G,A,R007_S,ATXN7L3,Silent,NM_001098833,exon3,c.C333T,p.N111N,SNP,SNVindel,exonic,ATXN7L3,NA,synonymous SNV,"ATXN7L3:NM_001098833:exon3:c.C333T:p.N111N,ATXN7L3:NM_020218:exon3:c.C333T:p.N111N",NA,NA,NA,NA,NA,NA
chr17,42393814,42393814,C,T,R007_S,RUNDC3A,Missense_Mutation,NM_001144825,exon9,c.C1015T,p.P339S,SNP,SNVindel,exonic,RUNDC3A,NA,nonsynonymous SNV,"RUNDC3A:NM_001144825:exon9:c.C1015T:p.P339S,RUNDC3A:NM_001144826:exon9:c.C1000T:p.P334S,RUNDC3A:NM_006695:exon9:c.C1015T:p.P339S",T,N,N,T,N,T
chr17,42429466,42429466,G,A,R007_S,GRN,Silent,NM_002087,exon11,c.G1263A,p.E421E,SNP,SNVindel,exonic,GRN,NA,synonymous SNV,GRN:NM_002087:exon11:c.G1263A:p.E421E,NA,NA,NA,NA,NA,NA
chr17,42433568,42433568,G,A,R007_S,FAM171A2,Missense_Mutation,NM_198475,exon5,c.C751T,p.P251S,SNP,SNVindel,exonic,FAM171A2,NA,nonsynonymous SNV,FAM171A2:NM_198475:exon5:c.C751T:p.P251S,D,U,D,T,D,T
chr17,42882281,42882281,G,A,R007_S,GJC1,Missense_Mutation,NM_001080383,exon3,c.C905T,p.T302I,SNP,SNVindel,exonic,GJC1,NA,nonsynonymous SNV,"GJC1:NM_001080383:exon3:c.C905T:p.T302I,GJC1:NM_005497:exon3:c.C905T:p.T302I",T,D,D,T,N,T
chr17,43198417,43198417,C,T,R007_S,PLCD3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PLCD3,NA,unknown,UNKNOWN,T,N,N,T,N,T
chr17,43309736,43309736,G,A,R007_S,FMNL1,Silent,NM_005892,exon3,c.G216A,p.E72E,SNP,SNVindel,exonic,FMNL1,NA,synonymous SNV,FMNL1:NM_005892:exon3:c.G216A:p.E72E,NA,NA,NA,NA,NA,NA
chr17,43368099,43368099,C,T,R007_S,MAP3K14,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MAP3K14,NA,unknown,UNKNOWN,.,D,.,.,.,T
chr17,45367603,45367603,C,T,R007_S,ITGB3,Missense_Mutation,NM_000212,exon8,c.C1088T,p.S363F,SNP,SNVindel,exonic,ITGB3,NA,nonsynonymous SNV,ITGB3:NM_000212:exon8:c.C1088T:p.S363F,D,D,D,D,D,D
chr17,45376792,45376792,C,T,R007_S,ITGB3,Silent,NM_000212,exon11,c.C1809T,p.G603G,SNP,SNVindel,exonic,ITGB3,NA,synonymous SNV,ITGB3:NM_000212:exon11:c.C1809T:p.G603G,NA,NA,NA,NA,NA,NA
chr17,45745709,45745709,C,T,R007_S,KPNB1,Missense_Mutation,NM_001276453,exon9,c.C722T,p.A241V,SNP,SNVindel,exonic,KPNB1,NA,nonsynonymous SNV,"KPNB1:NM_001276453:exon9:c.C722T:p.A241V,KPNB1:NM_002265:exon10:c.C1157T:p.A386V",D,D,.,T,D,D
chr17,45822179,45822179,G,A,R007_S,TBX21,Missense_Mutation,NM_013351,exon6,c.G1055A,p.G352E,SNP,SNVindel,exonic,TBX21,NA,nonsynonymous SNV,TBX21:NM_013351:exon6:c.G1055A:p.G352E,D,N,D,D,D,D
chr17,45994450,45994450,C,T,R007_S,SP2,Missense_Mutation,NM_003110,exon3,c.C1013T,p.P338L,SNP,SNVindel,exonic,SP2,NA,nonsynonymous SNV,SP2:NM_003110:exon3:c.C1013T:p.P338L,T,D,D,T,D,T
chr17,46847107,46847107,C,T,R007_S,TTLL6,Missense_Mutation,NM_173623,exon7,c.G1472A,p.G491E,SNP,SNVindel,exonic,TTLL6,NA,nonsynonymous SNV,"TTLL6:NM_173623:exon7:c.G1472A:p.G491E,TTLL6:NM_001130918:exon14:c.G2393A:p.G798E",.,.,N,T,.,T
chr17,47579525,47579525,C,T,R007_S,NGFR,Missense_Mutation,NM_002507,exon2,c.C167T,p.P56L,SNP,SNVindel,exonic,NGFR,NA,nonsynonymous SNV,NGFR:NM_002507:exon2:c.C167T:p.P56L,D,D,D,T,D,T
chr17,47656147,47656147,C,T,R007_S,NXPH3,Missense_Mutation,NM_007225,exon2,c.C244T,p.P82S,SNP,SNVindel,exonic,NXPH3,NA,nonsynonymous SNV,NXPH3:NM_007225:exon2:c.C244T:p.P82S,T,D,N,.,N,T
chr17,48046976,48046976,C,T,R007_S,DLX4,Silent,NM_138281,exon1,c.C144T,p.S48S,SNP,SNVindel,exonic,DLX4,NA,synonymous SNV,DLX4:NM_138281:exon1:c.C144T:p.S48S,NA,NA,NA,NA,NA,NA
chr17,48172853,48172853,G,A,R007_S,PDK2,Silent,NM_001199900,exon1,c.G54A,p.K18K,SNP,SNVindel,exonic,PDK2,NA,synonymous SNV,"PDK2:NM_001199900:exon1:c.G54A:p.K18K,PDK2:NM_002611:exon1:c.G54A:p.K18K",NA,NA,NA,NA,NA,NA
chr17,48227253,48227253,C,T,R007_S,PPP1R9B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PPP1R9B,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr17,48265968,48265968,G,A,R007_S,COL1A1,Missense_Mutation,NM_000088,exon43,c.C3130T,p.P1044S,SNP,SNVindel,exonic,COL1A1,NA,nonsynonymous SNV,COL1A1:NM_000088:exon43:c.C3130T:p.P1044S,T,N,D,D,N,D
chr17,48431033,48431033,G,A,R007_S,XYLT2,Missense_Mutation,NM_022167,exon2,c.G178A,p.G60S,SNP,SNVindel,exonic,XYLT2,NA,nonsynonymous SNV,XYLT2:NM_022167:exon2:c.G178A:p.G60S,T,N,D,T,N,T
chr17,48538070,48538070,C,T,R007_S,ACSF2,Missense_Mutation,NM_001288969,exon2,c.C161T,p.P54L,SNP,SNVindel,exonic,ACSF2,NA,nonsynonymous SNV,"ACSF2:NM_001288969:exon2:c.C161T:p.P54L,ACSF2:NM_001288970:exon2:c.C161T:p.P54L,ACSF2:NM_025149:exon2:c.C161T:p.P54L,ACSF2:NM_001288968:exon3:c.C236T:p.P79L",D,D,D,T,D,T
chr17,48540791,48540791,C,T,R007_S,ACSF2,Silent,NM_001288971,exon6,c.C444T,p.P148P,SNP,SNVindel,exonic,ACSF2,NA,synonymous SNV,"ACSF2:NM_001288971:exon6:c.C444T:p.P148P,ACSF2:NM_001288970:exon7:c.C795T:p.P265P,ACSF2:NM_001288969:exon8:c.C885T:p.P295P,ACSF2:NM_001288972:exon8:c.C444T:p.P148P,ACSF2:NM_025149:exon8:c.C924T:p.P308P,ACSF2:NM_001288968:exon9:c.C999T:p.P333P",NA,NA,NA,NA,NA,NA
chr17,48557289,48557289,C,T,R007_S,RSAD1,Silent,NM_018346,exon3,c.C318T,p.P106P,SNP,SNVindel,exonic,RSAD1,NA,synonymous SNV,RSAD1:NM_018346:exon3:c.C318T:p.P106P,NA,NA,NA,NA,NA,NA
chr17,48557320,48557320,G,A,R007_S,RSAD1,Missense_Mutation,NM_018346,exon3,c.G349A,p.A117T,SNP,SNVindel,exonic,RSAD1,NA,nonsynonymous SNV,RSAD1:NM_018346:exon3:c.G349A:p.A117T,T,D,N,T,N,T
chr17,48598532,48598532,C,T,R007_S,MYCBPAP,Silent,NM_001366294,exon8,c.C1023T,p.I341I,SNP,SNVindel,exonic,MYCBPAP,NA,synonymous SNV,"MYCBPAP:NM_001366294:exon8:c.C1023T:p.I341I,MYCBPAP:NM_032133:exon8:c.C978T:p.I326I",NA,NA,NA,NA,NA,NA
chr17,48600991,48600991,C,T,R007_S,MYCBPAP,Missense_Mutation,NM_001366294,exon12,c.C1526T,p.T509I,SNP,SNVindel,exonic,MYCBPAP,NA,nonsynonymous SNV,"MYCBPAP:NM_001366294:exon12:c.C1526T:p.T509I,MYCBPAP:NM_032133:exon12:c.C1481T:p.T494I",T,N,D,T,D,T
chr17,48681603,48681603,C,T,R007_S,CACNA1G,Silent,NM_001256332,exon21,c.C4188T,p.C1396C,SNP,SNVindel,exonic,CACNA1G,NA,synonymous SNV,"CACNA1G:NM_001256332:exon21:c.C4188T:p.C1396C,CACNA1G:NM_198376:exon21:c.C4188T:p.C1396C,CACNA1G:NM_198379:exon21:c.C4188T:p.C1396C,CACNA1G:NM_198382:exon21:c.C4188T:p.C1396C,CACNA1G:NM_198383:exon21:c.C4188T:p.C1396C,CACNA1G:NM_198387:exon21:c.C4188T:p.C1396C,CACNA1G:NM_198388:exon21:c.C4188T:p.C1396C,CACNA1G:NM_198396:exon21:c.C4188T:p.C1396C,CACNA1G:NM_001256324:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256325:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256326:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256327:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256328:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256329:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256330:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256331:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256333:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256334:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256359:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256360:exon22:c.C4257T:p.C1419C,CACNA1G:NM_001256361:exon22:c.C4257T:p.C1419C,CACNA1G:NM_018896:exon22:c.C4257T:p.C1419C,CACNA1G:NM_198377:exon22:c.C4257T:p.C1419C,CACNA1G:NM_198378:exon22:c.C4257T:p.C1419C,CACNA1G:NM_198380:exon22:c.C4257T:p.C1419C,CACNA1G:NM_198384:exon22:c.C4257T:p.C1419C,CACNA1G:NM_198385:exon22:c.C4257T:p.C1419C,CACNA1G:NM_198386:exon22:c.C4257T:p.C1419C",NA,NA,NA,NA,NA,NA
chr17,48776908,48776908,C,T,R007_S,ANKRD40,Silent,NM_052855,exon3,c.G630A,p.Q210Q,SNP,SNVindel,exonic,ANKRD40,NA,synonymous SNV,ANKRD40:NM_052855:exon3:c.G630A:p.Q210Q,NA,NA,NA,NA,NA,NA
chr17,48940522,48940522,G,A,R007_S,TOB1,Missense_Mutation,NM_001243885,exon2,c.C440T,p.T147I,SNP,SNVindel,exonic,TOB1,NA,nonsynonymous SNV,"TOB1:NM_001243885:exon2:c.C440T:p.T147I,TOB1:NM_005749:exon2:c.C857T:p.T286I,TOB1:NM_001243877:exon3:c.C857T:p.T286I",T,N,D,T,N,T
chr17,49343590,49343590,C,T,R007_S,UTP18,Missense_Mutation,NM_016001,exon3,c.C503T,p.A168V,SNP,SNVindel,exonic,UTP18,NA,nonsynonymous SNV,UTP18:NM_016001:exon3:c.C503T:p.A168V,T,N,N,T,N,T
chr17,49825043,49825043,C,T,R007_S,CA10,Missense_Mutation,NM_020178,exon4,c.G415A,p.D139N,SNP,SNVindel,exonic,CA10,NA,nonsynonymous SNV,"CA10:NM_020178:exon4:c.G415A:p.D139N,CA10:NM_001082533:exon5:c.G415A:p.D139N,CA10:NM_001082534:exon5:c.G415A:p.D139N",T,D,D,T,N,T
chr17,51900889,51900889,G,A,R007_S,KIF2B,Silent,NM_032559,exon1,c.G495A,p.R165R,SNP,SNVindel,exonic,KIF2B,NA,synonymous SNV,KIF2B:NM_032559:exon1:c.G495A:p.R165R,NA,NA,NA,NA,NA,NA
chr17,53488735,53488735,C,A,R007_S,MMD,Missense_Mutation,NM_012329,exon3,c.G152T,p.R51L,SNP,SNVindel,exonic,MMD,NA,nonsynonymous SNV,MMD:NM_012329:exon3:c.G152T:p.R51L,T,D,D,T,N,T
chr17,54981652,54981652,C,T,R007_S,TRIM25,Silent,NM_005082,exon3,c.G891A,p.Q297Q,SNP,SNVindel,exonic,TRIM25,NA,synonymous SNV,TRIM25:NM_005082:exon3:c.G891A:p.Q297Q,NA,NA,NA,NA,NA,NA
chr17,54991248,54991248,C,T,R007_S,TRIM25,Silent,NM_005082,exon1,c.G102A,p.G34G,SNP,SNVindel,exonic,TRIM25,NA,synonymous SNV,TRIM25:NM_005082:exon1:c.G102A:p.G34G,NA,NA,NA,NA,NA,NA
chr17,55062739,55062739,G,A,R007_S,SCPEP1,Missense_Mutation,NM_021626,exon3,c.G226A,p.G76S,SNP,SNVindel,exonic,SCPEP1,NA,nonsynonymous SNV,SCPEP1:NM_021626:exon3:c.G226A:p.G76S,D,D,D,D,D,D
chr17,55752416,55752416,G,A,R007_S,MSI2,Missense_Mutation,NM_001322250,exon12,c.G862A,p.D288N,SNP,SNVindel,exonic,MSI2,NA,nonsynonymous SNV,"MSI2:NM_001322250:exon12:c.G862A:p.D288N,MSI2:NM_138962:exon12:c.G874A:p.D292N",T,D,D,D,N,D
chr17,56247312,56247312,G,A,R007_S,OR4D2,Missense_Mutation,NM_001004707,exon1,c.G296A,p.G99D,SNP,SNVindel,exonic,OR4D2,NA,nonsynonymous SNV,OR4D2:NM_001004707:exon1:c.G296A:p.G99D,D,N,N,T,N,T
chr17,56620852,56620852,G,A,R007_S,SEPTIN4,Silent,NM_001038704,exon1,c.C696T,p.V232V,SNP,SNVindel,exonic,SEPTIN4,NA,synonymous SNV,"SEPTIN4:NM_001038704:exon1:c.C696T:p.V232V,SEPTIN4:NM_001368771:exon1:c.C696T:p.V232V",NA,NA,NA,NA,NA,NA
chr17,56688698,56688698,C,T,R007_S,TEX14,Silent,NM_001201457,exon10,c.G1026A,p.R342R,SNP,SNVindel,exonic,TEX14,NA,synonymous SNV,"TEX14:NM_001201457:exon10:c.G1026A:p.R342R,TEX14:NM_031272:exon10:c.G1008A:p.R336R,TEX14:NM_198393:exon10:c.G1008A:p.R336R",NA,NA,NA,NA,NA,NA
chr17,56690893,56690893,G,A,R007_S,TEX14,Silent,NM_001201457,exon9,c.C912T,p.H304H,SNP,SNVindel,exonic,TEX14,NA,synonymous SNV,"TEX14:NM_001201457:exon9:c.C912T:p.H304H,TEX14:NM_031272:exon9:c.C894T:p.H298H,TEX14:NM_198393:exon9:c.C894T:p.H298H",NA,NA,NA,NA,NA,NA
chr17,57126703,57126703,G,A,R007_S,TRIM37,Missense_Mutation,NM_001353085,exon13,c.C904T,p.P302S,SNP,SNVindel,exonic,TRIM37,NA,nonsynonymous SNV,"TRIM37:NM_001353085:exon13:c.C904T:p.P302S,TRIM37:NM_001320987:exon14:c.C1264T:p.P422S,TRIM37:NM_001353082:exon14:c.C1264T:p.P422S,TRIM37:NM_001353086:exon14:c.C1315T:p.P439S,TRIM37:NM_001005207:exon15:c.C1366T:p.P456S,TRIM37:NM_001320988:exon15:c.C1366T:p.P456S,TRIM37:NM_001320989:exon15:c.C1366T:p.P456S,TRIM37:NM_001353083:exon15:c.C631T:p.P211S,TRIM37:NM_001353084:exon15:c.C1366T:p.P456S,TRIM37:NM_015294:exon15:c.C1366T:p.P456S,TRIM37:NM_001320990:exon16:c.C1000T:p.P334S",D,D,D,T,N,T
chr17,57272702,57272702,C,T,R007_S,PRR11,Missense_Mutation,NM_018304,exon7,c.C755T,p.S252L,SNP,SNVindel,exonic,PRR11,NA,nonsynonymous SNV,PRR11:NM_018304:exon7:c.C755T:p.S252L,D,N,N,.,D,T
chr17,57290661,57290661,G,A,R007_S,SMG8,Missense_Mutation,NM_018149,exon3,c.G2477A,p.G826E,SNP,SNVindel,exonic,SMG8,NA,nonsynonymous SNV,SMG8:NM_018149:exon3:c.G2477A:p.G826E,T,D,D,T,N,T
chr17,57334540,57334540,C,T,R007_S,GDPD1,Missense_Mutation,NM_001165993,exon5,c.C425T,p.A142V,SNP,SNVindel,exonic,GDPD1,NA,nonsynonymous SNV,"GDPD1:NM_001165993:exon5:c.C425T:p.A142V,GDPD1:NM_001165994:exon5:c.C425T:p.A142V,GDPD1:NM_182569:exon5:c.C425T:p.A142V",T,D,D,T,N,T
chr17,57643063,57643063,G,A,R007_S,DHX40,Missense_Mutation,NM_001166301,exon1,c.G31A,p.A11T,SNP,SNVindel,exonic,DHX40,NA,nonsynonymous SNV,"DHX40:NM_001166301:exon1:c.G31A:p.A11T,DHX40:NM_024612:exon1:c.G31A:p.A11T",D,N,D,T,N,T
chr17,58145000,58145000,C,T,R007_S,HEATR6,Missense_Mutation,NM_022070,exon8,c.G1033A,p.V345I,SNP,SNVindel,exonic,HEATR6,NA,nonsynonymous SNV,HEATR6:NM_022070:exon8:c.G1033A:p.V345I,T,N,N,T,N,T
chr17,59469476,59469476,G,A,R007_S,BCAS3,Missense_Mutation,NM_017679,exon24,c.G2732A,p.G911D,SNP,SNVindel,exonic,BCAS3,NA,nonsynonymous SNV,"BCAS3:NM_017679:exon24:c.G2732A:p.G911D,BCAS3:NM_001099432:exon25:c.G2777A:p.G926D,BCAS3:NM_001330414:exon25:c.G2798A:p.G933D,BCAS3:NM_001353145:exon25:c.G2822A:p.G941D,BCAS3:NM_001330413:exon26:c.G2843A:p.G948D,BCAS3:NM_001353144:exon26:c.G2867A:p.G956D",D,N,D,T,N,T
chr17,60061562,60061562,G,A,R007_S,MED13,Missense_Mutation,NM_005121,exon15,c.C2858T,p.S953L,SNP,SNVindel,exonic,MED13,NA,nonsynonymous SNV,MED13:NM_005121:exon15:c.C2858T:p.S953L,T,D,D,T,N,T
chr17,60705275,60705275,C,T,R007_S,MRC2,Missense_Mutation,NM_006039,exon1,c.C112T,p.L38F,SNP,SNVindel,exonic,MRC2,NA,nonsynonymous SNV,MRC2:NM_006039:exon1:c.C112T:p.L38F,D,N,D,T,N,T
chr17,60743877,60743877,C,T,R007_S,MRC2,Silent,NM_006039,exon4,c.C756T,p.N252N,SNP,SNVindel,exonic,MRC2,NA,synonymous SNV,MRC2:NM_006039:exon4:c.C756T:p.N252N,NA,NA,NA,NA,NA,NA
chr17,60758438,60758438,G,A,R007_S,MRC2,Missense_Mutation,NM_006039,exon18,c.G2650A,p.E884K,SNP,SNVindel,exonic,MRC2,NA,nonsynonymous SNV,MRC2:NM_006039:exon18:c.G2650A:p.E884K,T,D,D,T,N,T
chr17,60759639,60759639,C,T,R007_S,MRC2,Silent,NM_006039,exon20,c.C2847T,p.I949I,SNP,SNVindel,exonic,MRC2,NA,synonymous SNV,MRC2:NM_006039:exon20:c.C2847T:p.I949I,NA,NA,NA,NA,NA,NA
chr17,60814416,60814416,G,A,R007_S,MARCHF10,Silent,NM_001100875,exon6,c.C813T,p.F271F,SNP,SNVindel,exonic,MARCHF10,NA,synonymous SNV,"MARCHF10:NM_001100875:exon6:c.C813T:p.F271F,MARCHF10:NM_152598:exon6:c.C813T:p.F271F,MARCHF10:NM_001288779:exon7:c.C927T:p.F309F,MARCHF10:NM_001288780:exon7:c.C810T:p.F270F",NA,NA,NA,NA,NA,NA
chr17,61497550,61497550,G,A,R007_S,TANC2,Missense_Mutation,NM_025185,exon26,c.G4207A,p.D1403N,SNP,SNVindel,exonic,TANC2,NA,nonsynonymous SNV,TANC2:NM_025185:exon26:c.G4207A:p.D1403N,D,D,D,T,N,T
chr17,61497589,61497589,C,T,R007_S,TANC2,Silent,NM_025185,exon26,c.C4246T,p.L1416L,SNP,SNVindel,exonic,TANC2,NA,synonymous SNV,TANC2:NM_025185:exon26:c.C4246T:p.L1416L,NA,NA,NA,NA,NA,NA
chr17,61497940,61497940,C,T,R007_S,TANC2,Missense_Mutation,NM_025185,exon26,c.C4597T,p.P1533S,SNP,SNVindel,exonic,TANC2,NA,nonsynonymous SNV,TANC2:NM_025185:exon26:c.C4597T:p.P1533S,D,D,D,T,N,T
chr17,61498767,61498767,G,A,R007_S,TANC2,Missense_Mutation,NM_025185,exon26,c.G5424A,p.M1808I,SNP,SNVindel,exonic,TANC2,NA,nonsynonymous SNV,TANC2:NM_025185:exon26:c.G5424A:p.M1808I,D,D,D,T,N,T
chr17,61557181,61557181,C,T,R007_S,ACE,Missense_Mutation,NM_000789,exon4,c.C563T,p.A188V,SNP,SNVindel,exonic,ACE,NA,nonsynonymous SNV,ACE:NM_000789:exon4:c.C563T:p.A188V,T,N,D,T,N,T
chr17,61559028,61559028,G,A,R007_S,ACE,Silent,NM_000789,exon7,c.G1047A,p.E349E,SNP,SNVindel,exonic,ACE,NA,synonymous SNV,ACE:NM_000789:exon7:c.G1047A:p.E349E,NA,NA,NA,NA,NA,NA
chr17,61561308,61561308,C,T,R007_S,ACE,Missense_Mutation,NM_000789,exon11,c.C1685T,p.S562F,SNP,SNVindel,exonic,ACE,NA,nonsynonymous SNV,ACE:NM_000789:exon11:c.C1685T:p.S562F,D,D,D,T,D,D
chr17,61564048,61564048,C,T,R007_S,ACE,Missense_Mutation,NM_001178057,exon3,c.C467T,p.A156V,SNP,SNVindel,exonic,ACE,NA,nonsynonymous SNV,"ACE:NM_001178057:exon3:c.C467T:p.A156V,ACE:NM_152830:exon3:c.C467T:p.A156V,ACE:NM_000789:exon14:c.C2189T:p.A730V",D,D,D,T,D,T
chr17,61771004,61771004,C,T,R007_S,MAP3K3,Missense_Mutation,NM_001330431,exon16,c.C1736T,p.P579L,SNP,SNVindel,exonic,MAP3K3,NA,nonsynonymous SNV,"MAP3K3:NM_001330431:exon16:c.C1736T:p.P579L,MAP3K3:NM_002401:exon16:c.C1748T:p.P583L,MAP3K3:NM_001363768:exon17:c.C1829T:p.P610L,MAP3K3:NM_203351:exon17:c.C1841T:p.P614L",D,D,D,T,D,T
chr17,61775981,61775981,C,T,R007_S,LIMD2,Silent,NM_030576,exon5,c.G315A,p.G105G,SNP,SNVindel,exonic,LIMD2,NA,synonymous SNV,LIMD2:NM_030576:exon5:c.G315A:p.G105G,NA,NA,NA,NA,NA,NA
chr17,61790833,61790833,C,T,R007_S,STRADA,Missense_Mutation,NM_001003786,exon4,c.G170A,p.G57E,SNP,SNVindel,exonic,STRADA,NA,nonsynonymous SNV,"STRADA:NM_001003786:exon4:c.G170A:p.G57E,STRADA:NM_001165969:exon4:c.G194A:p.G65E,STRADA:NM_001165970:exon4:c.G149A:p.G50E,STRADA:NM_001363787:exon4:c.G194A:p.G65E,STRADA:NM_001363789:exon4:c.G170A:p.G57E,STRADA:NM_153335:exon4:c.G170A:p.G57E,STRADA:NM_001003788:exon5:c.G107A:p.G36E,STRADA:NM_001363790:exon5:c.G107A:p.G36E,STRADA:NM_001363791:exon5:c.G107A:p.G36E,STRADA:NM_001003787:exon6:c.G281A:p.G94E,STRADA:NM_001363786:exon6:c.G257A:p.G86E,STRADA:NM_001363788:exon6:c.G281A:p.G94E",D,D,D,T,D,T
chr17,61897734,61897734,G,A,R007_S,FTSJ3,Missense_Mutation,NM_017647,exon19,c.C2137T,p.R713W,SNP,SNVindel,exonic,FTSJ3,NA,nonsynonymous SNV,FTSJ3:NM_017647:exon19:c.C2137T:p.R713W,D,D,D,T,N,T
chr17,61901583,61901583,C,T,R007_S,FTSJ3,Missense_Mutation,NM_017647,exon12,c.G1015A,p.E339K,SNP,SNVindel,exonic,FTSJ3,NA,nonsynonymous SNV,FTSJ3:NM_017647:exon12:c.G1015A:p.E339K,T,N,D,T,N,T
chr17,61903960,61903960,G,A,R007_S,FTSJ3,Missense_Mutation,NM_017647,exon3,c.C140T,p.A47V,SNP,SNVindel,exonic,FTSJ3,NA,nonsynonymous SNV,FTSJ3:NM_017647:exon3:c.C140T:p.A47V,T,D,D,T,N,T
chr17,62038598,62038598,G,A,R007_S,SCN4A,Silent,NM_000334,exon11,c.C1800T,p.Y600Y,SNP,SNVindel,exonic,SCN4A,NA,synonymous SNV,SCN4A:NM_000334:exon11:c.C1800T:p.Y600Y,NA,NA,NA,NA,NA,NA
chr17,62081109,62081109,C,T,R007_S,ICAM2,Missense_Mutation,NM_000873,exon3,c.G544A,p.E182K,SNP,SNVindel,exonic,ICAM2,NA,nonsynonymous SNV,"ICAM2:NM_000873:exon3:c.G544A:p.E182K,ICAM2:NM_001099787:exon4:c.G544A:p.E182K,ICAM2:NM_001099789:exon4:c.G544A:p.E182K,ICAM2:NM_001099786:exon5:c.G544A:p.E182K,ICAM2:NM_001099788:exon5:c.G544A:p.E182K",T,N,N,T,D,T
chr17,62121406,62121406,G,A,R007_S,ERN1,Missense_Mutation,NM_001433,exon22,c.C2876T,p.P959L,SNP,SNVindel,exonic,ERN1,NA,nonsynonymous SNV,ERN1:NM_001433:exon22:c.C2876T:p.P959L,D,D,D,T,D,T
chr17,62130222,62130222,C,T,R007_S,ERN1,Missense_Mutation,NM_001433,exon17,c.G2171A,p.S724N,SNP,SNVindel,exonic,ERN1,NA,nonsynonymous SNV,ERN1:NM_001433:exon17:c.G2171A:p.S724N,D,D,D,T,D,T
chr17,62488826,62488826,C,T,R007_S,POLG2,Nonsense_Mutation,NM_007215,exon3,c.G753A,p.W251X,SNP,SNVindel,exonic,POLG2,NA,stopgain,POLG2:NM_007215:exon3:c.G753A:p.W251X,.,D,A,.,.,.
chr17,62498328,62498328,C,T,R007_S,DDX5,Missense_Mutation,NM_001320597,exon10,c.G1108A,p.G370S,SNP,SNVindel,exonic,DDX5,NA,nonsynonymous SNV,"DDX5:NM_001320597:exon10:c.G1108A:p.G370S,DDX5:NM_004396:exon10:c.G1108A:p.G370S,DDX5:NM_001320595:exon11:c.G1108A:p.G370S,DDX5:NM_001320596:exon11:c.G1108A:p.G370S",.,D,D,T,.,T
chr17,62500192,62500192,G,A,R007_S,DDX5,Missense_Mutation,NM_001320597,exon4,c.C350T,p.P117L,SNP,SNVindel,exonic,DDX5,NA,nonsynonymous SNV,"DDX5:NM_001320597:exon4:c.C350T:p.P117L,DDX5:NM_004396:exon4:c.C350T:p.P117L,DDX5:NM_001320595:exon5:c.C350T:p.P117L,DDX5:NM_001320596:exon5:c.C350T:p.P117L",.,D,D,T,.,D
chr17,63221468,63221468,C,T,R007_S,RGS9,Silent,NM_001081955,exon18,c.C1747T,p.L583L,SNP,SNVindel,exonic,RGS9,NA,synonymous SNV,"RGS9:NM_001081955:exon18:c.C1747T:p.L583L,RGS9:NM_003835:exon18:c.C1756T:p.L586L",NA,NA,NA,NA,NA,NA
chr17,64298996,64298996,C,T,R007_S,PRKCA,Silent,NM_002737,exon1,c.C27T,p.D9D,SNP,SNVindel,exonic,PRKCA,NA,synonymous SNV,PRKCA:NM_002737:exon1:c.C27T:p.D9D,NA,NA,NA,NA,NA,NA
chr17,64734932,64734932,C,T,R007_S,PRKCA,Silent,NM_002737,exon11,c.C1281T,p.Y427Y,SNP,SNVindel,exonic,PRKCA,NA,synonymous SNV,PRKCA:NM_002737:exon11:c.C1281T:p.Y427Y,NA,NA,NA,NA,NA,NA
chr17,65051336,65051336,C,T,R007_S,CACNG1,Missense_Mutation,NM_000727,exon3,c.C422T,p.S141F,SNP,SNVindel,exonic,CACNG1,NA,nonsynonymous SNV,CACNG1:NM_000727:exon3:c.C422T:p.S141F,D,N,D,T,D,T
chr17,65688839,65688839,C,T,R007_S,PITPNC1,Silent,NM_012417,exon9,c.C834T,p.T278T,SNP,SNVindel,exonic,PITPNC1,NA,synonymous SNV,PITPNC1:NM_012417:exon9:c.C834T:p.T278T,NA,NA,NA,NA,NA,NA
chr17,65714179,65714179,G,A,R007_S,NOL11,Missense_Mutation,NM_015462,exon1,c.G116A,p.S39N,SNP,SNVindel,exonic,NOL11,NA,nonsynonymous SNV,NOL11:NM_015462:exon1:c.G116A:p.S39N,T,N,D,T,N,T
chr17,65907452,65907452,G,A,R007_S,BPTF,Missense_Mutation,NM_182641,exon11,c.G3452A,p.S1151N,SNP,SNVindel,exonic,BPTF,NA,nonsynonymous SNV,"BPTF:NM_182641:exon11:c.G3452A:p.S1151N,BPTF:NM_004459:exon13:c.G3830A:p.S1277N",T,.,N,D,N,T
chr17,66267328,66267328,C,T,R007_S,SLC16A6,Missense_Mutation,NM_004694,exon5,c.G973A,p.D325N,SNP,SNVindel,exonic,SLC16A6,NA,nonsynonymous SNV,"SLC16A6:NM_004694:exon5:c.G973A:p.D325N,SLC16A6:NM_001174166:exon6:c.G973A:p.D325N",T,N,N,T,N,T
chr17,66440707,66440707,C,T,R007_S,WIPI1,Silent,NM_001320772,exon3,c.G111A,p.E37E,SNP,SNVindel,exonic,WIPI1,NA,synonymous SNV,"WIPI1:NM_001320772:exon3:c.G111A:p.E37E,WIPI1:NM_017983:exon4:c.G357A:p.E119E",NA,NA,NA,NA,NA,NA
chr17,66898888,66898888,G,A,R007_S,ABCA8,Silent,NM_007168,exon19,c.C2610T,p.D870D,SNP,SNVindel,exonic,ABCA8,NA,synonymous SNV,"ABCA8:NM_007168:exon19:c.C2610T:p.D870D,ABCA8:NM_001288986:exon20:c.C2730T:p.D910D,ABCA8:NM_001288985:exon21:c.C2730T:p.D910D",NA,NA,NA,NA,NA,NA
chr17,66914678,66914678,C,T,R007_S,ABCA8,Missense_Mutation,NM_001288986,exon14,c.G1798A,p.V600I,SNP,SNVindel,exonic,ABCA8,NA,nonsynonymous SNV,"ABCA8:NM_001288986:exon14:c.G1798A:p.V600I,ABCA8:NM_001288985:exon15:c.G1798A:p.V600I",T,.,D,D,N,T
chr17,66917531,66917531,G,A,R007_S,ABCA8,Missense_Mutation,NM_001288986,exon12,c.C1604T,p.P535L,SNP,SNVindel,exonic,ABCA8,NA,nonsynonymous SNV,"ABCA8:NM_001288986:exon12:c.C1604T:p.P535L,ABCA8:NM_007168:exon12:c.C1604T:p.P535L,ABCA8:NM_001288985:exon13:c.C1604T:p.P535L",D,D,D,T,D,T
chr17,67189324,67189324,G,A,R007_S,ABCA10,Silent,NM_080282,exon16,c.C1707T,p.L569L,SNP,SNVindel,exonic,ABCA10,NA,synonymous SNV,ABCA10:NM_080282:exon16:c.C1707T:p.L569L,NA,NA,NA,NA,NA,NA
chr17,67243686,67243686,C,T,R007_S,ABCA5,Missense_Mutation,NM_018672,exon38,c.G4921A,p.V1641I,SNP,SNVindel,exonic,ABCA5,NA,nonsynonymous SNV,"ABCA5:NM_018672:exon38:c.G4921A:p.V1641I,ABCA5:NM_172232:exon39:c.G4921A:p.V1641I",T,N,N,D,N,T
chr17,71193156,71193156,C,T,R007_S,COG1,Silent,NM_018714,exon3,c.C678T,p.A226A,SNP,SNVindel,exonic,COG1,NA,synonymous SNV,COG1:NM_018714:exon3:c.C678T:p.A226A,NA,NA,NA,NA,NA,NA
chr17,72287196,72287196,G,A,R007_S,DNAI2,Silent,NM_001172810,exon6,c.G648A,p.S216S,SNP,SNVindel,exonic,DNAI2,NA,synonymous SNV,"DNAI2:NM_001172810:exon6:c.G648A:p.S216S,DNAI2:NM_001353167:exon6:c.G648A:p.S216S,DNAI2:NM_023036:exon6:c.G648A:p.S216S",NA,NA,NA,NA,NA,NA
chr17,72341004,72341004,C,T,R007_S,KIF19,Silent,NM_153209,exon7,c.C687T,p.R229R,SNP,SNVindel,exonic,KIF19,NA,synonymous SNV,KIF19:NM_153209:exon7:c.C687T:p.R229R,NA,NA,NA,NA,NA,NA
chr17,72353490,72353490,G,A,R007_S,BTBD17,Missense_Mutation,NM_001080466,exon3,c.C743T,p.A248V,SNP,SNVindel,exonic,BTBD17,NA,nonsynonymous SNV,BTBD17:NM_001080466:exon3:c.C743T:p.A248V,T,N,D,T,N,T
chr17,72610084,72610084,C,T,R007_S,CD300E,Silent,NM_181449,exon3,c.G477A,p.E159E,SNP,SNVindel,exonic,CD300E,NA,synonymous SNV,CD300E:NM_181449:exon3:c.G477A:p.E159E,NA,NA,NA,NA,NA,NA
chr17,72863072,72863072,C,T,R007_S,FDXR,Missense_Mutation,NM_001258012,exon3,c.G233A,p.G78E,SNP,SNVindel,exonic,FDXR,NA,nonsynonymous SNV,FDXR:NM_001258012:exon3:c.G233A:p.G78E,D,.,N,D,N,T
chr17,72942958,72942958,G,A,R007_S,OTOP3,Silent,NM_001272005,exon6,c.G954A,p.G318G,SNP,SNVindel,exonic,OTOP3,NA,synonymous SNV,"OTOP3:NM_001272005:exon6:c.G954A:p.G318G,OTOP3:NM_178233:exon6:c.G1008A:p.G336G",NA,NA,NA,NA,NA,NA
chr17,73126881,73126881,C,T,R007_S,NT5C,Missense_Mutation,NM_014595,exon4,c.G418A,p.D140N,SNP,SNVindel,exonic,NT5C,NA,nonsynonymous SNV,NT5C:NM_014595:exon4:c.G418A:p.D140N,T,D,D,T,D,T
chr17,73484157,73484157,G,A,R007_S,TMEM94,Missense_Mutation,NM_001321148,exon5,c.G584A,p.G195E,SNP,SNVindel,exonic,TMEM94,NA,nonsynonymous SNV,"TMEM94:NM_001321148:exon5:c.G584A:p.G195E,TMEM94:NM_001351203:exon5:c.G584A:p.G195E,TMEM94:NM_001321149:exon6:c.G554A:p.G185E,TMEM94:NM_001351202:exon6:c.G554A:p.G185E,TMEM94:NM_014738:exon6:c.G554A:p.G185E",D,D,D,T,D,T
chr17,73492431,73492431,G,A,R007_S,TMEM94,Missense_Mutation,NM_001321148,exon23,c.G3152A,p.S1051N,SNP,SNVindel,exonic,TMEM94,NA,nonsynonymous SNV,"TMEM94:NM_001321148:exon23:c.G3152A:p.S1051N,TMEM94:NM_001351203:exon23:c.G3149A:p.S1050N,TMEM94:NM_001321149:exon24:c.G3134A:p.S1045N,TMEM94:NM_001351202:exon24:c.G3074A:p.S1025N,TMEM94:NM_014738:exon24:c.G3122A:p.S1041N",T,N,N,T,N,T
chr17,73515124,73515124,C,T,R007_S,TSEN54,Missense_Mutation,NM_207346,exon6,c.C517T,p.P173S,SNP,SNVindel,exonic,TSEN54,NA,nonsynonymous SNV,TSEN54:NM_207346:exon6:c.C517T:p.P173S,T,D,D,T,D,T
chr17,73566534,73566534,C,T,R007_S,LLGL2,Silent,NM_001031803,exon16,c.C1980T,p.S660S,SNP,SNVindel,exonic,LLGL2,NA,synonymous SNV,"LLGL2:NM_001031803:exon16:c.C1980T:p.S660S,LLGL2:NM_004524:exon16:c.C1980T:p.S660S",NA,NA,NA,NA,NA,NA
chr17,73616707,73616707,G,A,R007_S,MYO15B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MYO15B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,73620520,73620520,C,T,R007_S,MYO15B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MYO15B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,73914251,73914251,G,A,R007_S,FBF1,Silent,NM_001319193,exon20,c.C2238T,p.S746S,SNP,SNVindel,exonic,FBF1,NA,synonymous SNV,FBF1:NM_001319193:exon20:c.C2238T:p.S746S,NA,NA,NA,NA,NA,NA
chr17,73916414,73916414,C,T,R007_S,FBF1,Missense_Mutation,NM_001319193,exon17,c.G1771A,p.A591T,SNP,SNVindel,exonic,FBF1,NA,nonsynonymous SNV,FBF1:NM_001319193:exon17:c.G1771A:p.A591T,T,.,N,T,N,T
chr17,74005986,74005986,C,T,R007_S,EVPL,Silent,NM_001320747,exon22,c.G3366A,p.E1122E,SNP,SNVindel,exonic,EVPL,NA,synonymous SNV,"EVPL:NM_001320747:exon22:c.G3366A:p.E1122E,EVPL:NM_001988:exon22:c.G3300A:p.E1100E",NA,NA,NA,NA,NA,NA
chr17,74006454,74006454,C,T,R007_S,EVPL,Silent,NM_001320747,exon22,c.G2898A,p.Q966Q,SNP,SNVindel,exonic,EVPL,NA,synonymous SNV,"EVPL:NM_001320747:exon22:c.G2898A:p.Q966Q,EVPL:NM_001988:exon22:c.G2832A:p.Q944Q",NA,NA,NA,NA,NA,NA
chr17,74085358,74085358,G,A,R007_S,EXOC7,Silent,NM_001282313,exon7,c.C822T,p.H274H,SNP,SNVindel,exonic,EXOC7,NA,synonymous SNV,"EXOC7:NM_001282313:exon7:c.C822T:p.H274H,EXOC7:NM_015219:exon7:c.C852T:p.H284H,EXOC7:NM_001013839:exon8:c.C945T:p.H315H,EXOC7:NM_001145298:exon8:c.C921T:p.H307H,EXOC7:NM_001145297:exon9:c.C1098T:p.H366H,EXOC7:NM_001145299:exon9:c.C1014T:p.H338H",NA,NA,NA,NA,NA,NA
chr17,74099476,74099476,C,T,R007_S,EXOC7,Missense_Mutation,NM_001013839,exon2,c.G92A,p.S31N,SNP,SNVindel,exonic,EXOC7,NA,nonsynonymous SNV,"EXOC7:NM_001013839:exon2:c.G92A:p.S31N,EXOC7:NM_001145297:exon2:c.G92A:p.S31N,EXOC7:NM_001145298:exon2:c.G92A:p.S31N,EXOC7:NM_001145299:exon2:c.G92A:p.S31N,EXOC7:NM_001282314:exon2:c.G92A:p.S31N,EXOC7:NM_015219:exon2:c.G92A:p.S31N",T,D,D,T,N,T
chr17,74383346,74383346,C,T,R007_S,SPHK1,Silent,NM_001142602,exon5,c.C834T,p.G278G,SNP,SNVindel,exonic,SPHK1,NA,synonymous SNV,"SPHK1:NM_001142602:exon5:c.C834T:p.G278G,SPHK1:NM_001142601:exon6:c.C834T:p.G278G,SPHK1:NM_001355139:exon6:c.C834T:p.G278G,SPHK1:NM_021972:exon6:c.C876T:p.G292G,SPHK1:NM_182965:exon6:c.C1092T:p.G364G",NA,NA,NA,NA,NA,NA
chr17,74733177,74733177,G,A,R007_S,SRSF2,Silent,NM_001195427,exon1,c.C66T,p.T22T,SNP,SNVindel,exonic,SRSF2,NA,synonymous SNV,"SRSF2:NM_001195427:exon1:c.C66T:p.T22T,SRSF2:NM_003016:exon1:c.C66T:p.T22T",NA,NA,NA,NA,NA,NA
chr17,75398244,75398244,C,T,R007_S,SEPTIN9,Silent,NM_001113493,exon2,c.C159T,p.T53T,SNP,SNVindel,exonic,SEPTIN9,NA,synonymous SNV,"SEPTIN9:NM_001113493:exon2:c.C159T:p.T53T,SEPTIN9:NM_001293695:exon2:c.C123T:p.T41T,SEPTIN9:NM_006640:exon2:c.C126T:p.T42T,SEPTIN9:NM_001113491:exon3:c.C180T:p.T60T",NA,NA,NA,NA,NA,NA
chr17,76167921,76167921,C,T,R007_S,SYNGR2,Missense_Mutation,NM_001363778,exon3,c.C668T,p.P223L,SNP,SNVindel,exonic,SYNGR2,NA,nonsynonymous SNV,SYNGR2:NM_001363778:exon3:c.C668T:p.P223L,.,.,D,T,.,.
chr17,76201711,76201711,G,A,R007_S,AFMID,Silent,NM_001010982,exon9,c.G672A,p.Q224Q,SNP,SNVindel,exonic,AFMID,NA,synonymous SNV,"AFMID:NM_001010982:exon9:c.G672A:p.Q224Q,AFMID:NM_001145526:exon9:c.G672A:p.Q224Q",NA,NA,NA,NA,NA,NA
chr17,76446839,76446839,C,T,R007_S,DNAH17,Silent,NM_173628,exon67,c.G10824A,p.G3608G,SNP,SNVindel,exonic,DNAH17,NA,synonymous SNV,DNAH17:NM_173628:exon67:c.G10824A:p.G3608G,NA,NA,NA,NA,NA,NA
chr17,76490168,76490168,C,T,R007_S,DNAH17,Missense_Mutation,NM_173628,exon41,c.G6358A,p.V2120I,SNP,SNVindel,exonic,DNAH17,NA,nonsynonymous SNV,DNAH17:NM_173628:exon41:c.G6358A:p.V2120I,.,.,D,T,.,T
chr17,76496395,76496395,C,T,R007_S,DNAH17,Missense_Mutation,NM_173628,exon36,c.G5632A,p.D1878N,SNP,SNVindel,exonic,DNAH17,NA,nonsynonymous SNV,DNAH17:NM_173628:exon36:c.G5632A:p.D1878N,.,.,D,T,.,T
chr17,76887785,76887785,C,T,R007_S,CEP295NL,Silent,NM_001243540,exon3,c.G801A,p.E267E,SNP,SNVindel,exonic,CEP295NL,NA,synonymous SNV,"CEP295NL:NM_001243540:exon3:c.G801A:p.E267E,CEP295NL:NM_001243541:exon3:c.G627A:p.E209E",NA,NA,NA,NA,NA,NA
chr17,77709031,77709031,G,A,R007_S,ENPP7,Missense_Mutation,NM_178543,exon3,c.G589A,p.E197K,SNP,SNVindel,exonic,ENPP7,NA,nonsynonymous SNV,ENPP7:NM_178543:exon3:c.G589A:p.E197K,T,D,D,T,D,D
chr17,77755663,77755663,G,A,R007_S,CBX2,Silent,NM_032647,exon4,c.G351A,p.R117R,SNP,SNVindel,exonic,CBX2,NA,synonymous SNV,CBX2:NM_032647:exon4:c.G351A:p.R117R,NA,NA,NA,NA,NA,NA
chr17,77757736,77757736,G,A,R007_S,CBX2,Missense_Mutation,NM_005189,exon5,c.G494A,p.G165E,SNP,SNVindel,exonic,CBX2,NA,nonsynonymous SNV,CBX2:NM_005189:exon5:c.G494A:p.G165E,D,N,D,.,D,T
chr17,78091503,78091503,C,T,R007_S,GAA,Silent,NM_000152,exon17,c.C2436T,p.D812D,SNP,SNVindel,exonic,GAA,NA,synonymous SNV,"GAA:NM_000152:exon17:c.C2436T:p.D812D,GAA:NM_001079804:exon17:c.C2436T:p.D812D,GAA:NM_001079803:exon18:c.C2436T:p.D812D",NA,NA,NA,NA,NA,NA
chr17,78222044,78222044,G,A,R007_S,SLC26A11,Silent,NM_001166348,exon13,c.G1410A,p.R470R,SNP,SNVindel,exonic,SLC26A11,NA,synonymous SNV,"SLC26A11:NM_001166348:exon13:c.G1410A:p.R470R,SLC26A11:NM_001166349:exon13:c.G1410A:p.R470R,SLC26A11:NM_001166347:exon14:c.G1410A:p.R470R,SLC26A11:NM_173626:exon14:c.G1410A:p.R470R",NA,NA,NA,NA,NA,NA
chr17,78261732,78261732,G,A,R007_S,RNF213,Nonsense_Mutation,NM_001256071,exon4,c.G380A,p.W127X,SNP,SNVindel,exonic,RNF213,NA,stopgain,"RNF213:NM_001256071:exon4:c.G380A:p.W127X,RNF213:NM_020954:exon4:c.G380A:p.W127X",.,U,A,.,.,.
chr17,78305914,78305914,C,T,R007_S,RNF213,Missense_Mutation,NM_001256071,exon21,c.C3626T,p.T1209M,SNP,SNVindel,exonic,RNF213,NA,nonsynonymous SNV,RNF213:NM_001256071:exon21:c.C3626T:p.T1209M,D,.,N,T,D,T
chr17,78319515,78319515,C,T,R007_S,RNF213,Silent,NM_001256071,exon29,c.C7380T,p.I2460I,SNP,SNVindel,exonic,RNF213,NA,synonymous SNV,RNF213:NM_001256071:exon29:c.C7380T:p.I2460I,NA,NA,NA,NA,NA,NA
chr17,78320524,78320524,C,T,R007_S,RNF213,Missense_Mutation,NM_001256071,exon29,c.C8389T,p.R2797C,SNP,SNVindel,exonic,RNF213,NA,nonsynonymous SNV,RNF213:NM_001256071:exon29:c.C8389T:p.R2797C,D,N,D,T,D,T
chr17,78343326,78343326,C,T,R007_S,RNF213,Silent,NM_001256071,exon45,c.C12180T,p.R4060R,SNP,SNVindel,exonic,RNF213,NA,synonymous SNV,RNF213:NM_001256071:exon45:c.C12180T:p.R4060R,NA,NA,NA,NA,NA,NA
chr17,79077497,79077497,C,T,R007_S,BAIAP2,Missense_Mutation,NM_001144888,exon8,c.C838T,p.P280S,SNP,SNVindel,exonic,BAIAP2,NA,nonsynonymous SNV,"BAIAP2:NM_001144888:exon8:c.C838T:p.P280S,BAIAP2:NM_006340:exon8:c.C838T:p.P280S,BAIAP2:NM_017450:exon8:c.C838T:p.P280S,BAIAP2:NM_017451:exon8:c.C838T:p.P280S",T,D,D,T,N,T
chr17,79077835,79077835,C,T,R007_S,BAIAP2,Silent,NM_001144888,exon9,c.C993T,p.S331S,SNP,SNVindel,exonic,BAIAP2,NA,synonymous SNV,"BAIAP2:NM_001144888:exon9:c.C993T:p.S331S,BAIAP2:NM_006340:exon9:c.C993T:p.S331S,BAIAP2:NM_017450:exon9:c.C993T:p.S331S,BAIAP2:NM_017451:exon9:c.C993T:p.S331S",NA,NA,NA,NA,NA,NA
chr17,79094686,79094686,C,T,R007_S,AATK,Missense_Mutation,NM_004920,exon10,c.G2741A,p.G914E,SNP,SNVindel,exonic,AATK,NA,nonsynonymous SNV,"AATK:NM_004920:exon10:c.G2741A:p.G914E,AATK:NM_001080395:exon11:c.G3050A:p.G1017E",D,N,N,T,N,T
chr17,79095679,79095679,T,C,R007_S,AATK,Missense_Mutation,NM_004920,exon10,c.A1748G,p.N583S,SNP,SNVindel,exonic,AATK,NA,nonsynonymous SNV,"AATK:NM_004920:exon10:c.A1748G:p.N583S,AATK:NM_001080395:exon11:c.A2057G:p.N686S",D,N,N,T,N,T
chr17,79095714,79095714,C,T,R007_S,AATK,Silent,NM_004920,exon10,c.G1713A,p.Q571Q,SNP,SNVindel,exonic,AATK,NA,synonymous SNV,"AATK:NM_004920:exon10:c.G1713A:p.Q571Q,AATK:NM_001080395:exon11:c.G2022A:p.Q674Q",NA,NA,NA,NA,NA,NA
chr17,79234071,79234071,C,T,R007_S,SLC38A10,Missense_Mutation,NM_001037984,exon11,c.G1255A,p.G419S,SNP,SNVindel,exonic,SLC38A10,NA,nonsynonymous SNV,"SLC38A10:NM_001037984:exon11:c.G1255A:p.G419S,SLC38A10:NM_138570:exon11:c.G1255A:p.G419S",T,U,N,T,N,T
chr17,79428052,79428052,C,T,R007_S,BAHCC1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,BAHCC1,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,79514292,79514292,G,A,R007_S,FAAP100,Missense_Mutation,NM_025161,exon5,c.C1816T,p.L606F,SNP,SNVindel,exonic,FAAP100,NA,nonsynonymous SNV,FAAP100:NM_025161:exon5:c.C1816T:p.L606F,D,D,D,T,D,T
chr17,79804414,79804414,C,T,R007_S,P4HB,Missense_Mutation,NM_000918,exon7,c.G947A,p.R316H,SNP,SNVindel,exonic,P4HB,NA,nonsynonymous SNV,P4HB:NM_000918:exon7:c.G947A:p.R316H,D,D,D,T,D,T
chr17,80059595,80059595,C,T,R007_S,CCDC57,Missense_Mutation,NM_001367828,exon17,c.G1571A,p.R524K,SNP,SNVindel,exonic,CCDC57,NA,nonsynonymous SNV,"CCDC57:NM_001367828:exon17:c.G1571A:p.R524K,CCDC57:NM_198082:exon17:c.G2711A:p.R904K",T,.,N,T,N,T
chr17,80109599,80109599,G,A,R007_S,CCDC57,Silent,NM_001367828,exon13,c.C816T,p.F272F,SNP,SNVindel,exonic,CCDC57,NA,synonymous SNV,CCDC57:NM_001367828:exon13:c.C816T:p.F272F,NA,NA,NA,NA,NA,NA
chr17,80159680,80159680,C,T,R007_S,CCDC57,Silent,NM_198082,exon2,c.G141A,p.Q47Q,SNP,SNVindel,exonic,CCDC57,NA,synonymous SNV,"CCDC57:NM_198082:exon2:c.G141A:p.Q47Q,CCDC57:NM_001316321:exon3:c.G141A:p.Q47Q",NA,NA,NA,NA,NA,NA
chr17,80195491,80195491,G,A,R007_S,SLC16A3,Missense_Mutation,NM_001042422,exon4,c.G845A,p.G282D,SNP,SNVindel,exonic,SLC16A3,NA,nonsynonymous SNV,"SLC16A3:NM_001042422:exon4:c.G845A:p.G282D,SLC16A3:NM_001042423:exon4:c.G845A:p.G282D,SLC16A3:NM_001206950:exon4:c.G845A:p.G282D,SLC16A3:NM_001206951:exon4:c.G845A:p.G282D,SLC16A3:NM_001206952:exon4:c.G845A:p.G282D,SLC16A3:NM_004207:exon4:c.G845A:p.G282D",D,D,D,T,D,D
chr17,80195543,80195543,C,T,R007_S,SLC16A3,Silent,NM_001042422,exon4,c.C897T,p.S299S,SNP,SNVindel,exonic,SLC16A3,NA,synonymous SNV,"SLC16A3:NM_001042422:exon4:c.C897T:p.S299S,SLC16A3:NM_001042423:exon4:c.C897T:p.S299S,SLC16A3:NM_001206950:exon4:c.C897T:p.S299S,SLC16A3:NM_001206951:exon4:c.C897T:p.S299S,SLC16A3:NM_001206952:exon4:c.C897T:p.S299S,SLC16A3:NM_004207:exon4:c.C897T:p.S299S",NA,NA,NA,NA,NA,NA
chr17,80197893,80197893,C,T,R007_S,CSNK1D,Missense_Mutation,NM_001363749,exon9,c.G1243A,p.G415S,SNP,SNVindel,exonic,CSNK1D,NA,nonsynonymous SNV,CSNK1D:NM_001363749:exon9:c.G1243A:p.G415S,.,.,N,T,.,.
chr17,80332916,80332916,G,A,R007_S,UTS2R,Missense_Mutation,NM_018949,exon1,c.G716A,p.R239H,SNP,SNVindel,exonic,UTS2R,NA,nonsynonymous SNV,UTS2R:NM_018949:exon1:c.G716A:p.R239H,T,U,N,T,N,T
chr17,80684739,80684739,G,A,R007_S,FN3KRP,Missense_Mutation,NM_024619,exon6,c.G622A,p.E208K,SNP,SNVindel,exonic,FN3KRP,NA,nonsynonymous SNV,FN3KRP:NM_024619:exon6:c.G622A:p.E208K,T,N,D,T,D,T
chr17,80739552,80739552,G,A,R007_S,TBCD,Silent,NM_005993,exon7,c.G726A,p.Q242Q,SNP,SNVindel,exonic,TBCD,NA,synonymous SNV,TBCD:NM_005993:exon7:c.G726A:p.Q242Q,NA,NA,NA,NA,NA,NA
chr17,80789753,80789753,G,A,R007_S,ZNF750,Missense_Mutation,NM_024702,exon2,c.C578T,p.S193F,SNP,SNVindel,exonic,ZNF750,NA,nonsynonymous SNV,ZNF750:NM_024702:exon2:c.C578T:p.S193F,D,N,D,T,N,T
chr17,80828198,80828198,G,A,R007_S,TBCD,Missense_Mutation,NM_005993,exon14,c.G1417A,p.A473T,SNP,SNVindel,exonic,TBCD,NA,nonsynonymous SNV,TBCD:NM_005993:exon14:c.G1417A:p.A473T,D,N,D,T,D,T
chr17,80915248,80915248,C,T,R007_S,B3GNTL1,Missense_Mutation,NM_001320743,exon5,c.G314A,p.G105D,SNP,SNVindel,exonic,B3GNTL1,NA,nonsynonymous SNV,"B3GNTL1:NM_001320743:exon5:c.G314A:p.G105D,B3GNTL1:NM_001009905:exon9:c.G848A:p.G283D,B3GNTL1:NM_001320742:exon10:c.G806A:p.G269D",T,N,N,T,N,T
chr18,199287,199287,G,A,R007_S,USP14,Missense_Mutation,NM_001037334,exon9,c.G742A,p.V248I,SNP,SNVindel,exonic,USP14,NA,nonsynonymous SNV,"USP14:NM_001037334:exon9:c.G742A:p.V248I,USP14:NM_005151:exon10:c.G847A:p.V283I",T,D,D,T,N,T
chr18,226901,226901,G,A,R007_S,THOC1,Silent,NM_005131,exon12,c.C919T,p.L307L,SNP,SNVindel,exonic,THOC1,NA,synonymous SNV,THOC1:NM_005131:exon12:c.C919T:p.L307L,NA,NA,NA,NA,NA,NA
chr18,254296,254296,G,A,R007_S,THOC1,Nonsense_Mutation,NM_005131,exon8,c.C580T,p.Q194X,SNP,SNVindel,exonic,THOC1,NA,stopgain,THOC1:NM_005131:exon8:c.C580T:p.Q194X,.,D,A,.,.,.
chr18,706493,706493,G,A,R007_S,ENOSF1,Missense_Mutation,NM_001354065,exon2,c.C40T,p.L14F,SNP,SNVindel,exonic,ENOSF1,NA,nonsynonymous SNV,"ENOSF1:NM_001354065:exon2:c.C40T:p.L14F,ENOSF1:NM_001354066:exon2:c.C170T:p.T57I,ENOSF1:NM_001354067:exon2:c.C314T:p.T105I,ENOSF1:NM_001354068:exon2:c.C314T:p.T105I,ENOSF1:NM_017512:exon2:c.C170T:p.T57I,ENOSF1:NM_202758:exon2:c.C314T:p.T105I",D,D,D,T,D,T
chr18,743320,743320,G,A,R007_S,YES1,Nonsense_Mutation,NM_005433,exon7,c.C820T,p.R274X,SNP,SNVindel,exonic,YES1,NA,stopgain,YES1:NM_005433:exon7:c.C820T:p.R274X,.,D,A,.,.,.
chr18,909491,909491,C,T,R007_S,ADCYAP1,Missense_Mutation,NM_001117,exon4,c.C386T,p.S129F,SNP,SNVindel,exonic,ADCYAP1,NA,nonsynonymous SNV,"ADCYAP1:NM_001117:exon4:c.C386T:p.S129F,ADCYAP1:NM_001099733:exon5:c.C386T:p.S129F",.,D,D,T,.,T
chr18,3534264,3534264,C,T,R007_S,DLGAP1,Missense_Mutation,NM_001003809,exon7,c.G1501A,p.E501K,SNP,SNVindel,exonic,DLGAP1,NA,nonsynonymous SNV,"DLGAP1:NM_001003809:exon7:c.G1501A:p.E501K,DLGAP1:NM_001242762:exon7:c.G1459A:p.E487K,DLGAP1:NM_001242764:exon7:c.G1525A:p.E509K,DLGAP1:NM_001242765:exon7:c.G1501A:p.E501K,DLGAP1:NM_001242763:exon8:c.G1573A:p.E525K,DLGAP1:NM_001242766:exon8:c.G1531A:p.E511K,DLGAP1:NM_001308390:exon8:c.G1555A:p.E519K,DLGAP1:NM_001242761:exon10:c.G2407A:p.E803K,DLGAP1:NM_004746:exon10:c.G2407A:p.E803K",D,D,D,T,D,T
chr18,3729318,3729318,C,T,R007_S,DLGAP1,Missense_Mutation,NM_001003809,exon4,c.G502A,p.E168K,SNP,SNVindel,exonic,DLGAP1,NA,nonsynonymous SNV,"DLGAP1:NM_001003809:exon4:c.G502A:p.E168K,DLGAP1:NM_001242762:exon4:c.G544A:p.E182K,DLGAP1:NM_001242763:exon4:c.G544A:p.E182K,DLGAP1:NM_001242764:exon4:c.G526A:p.E176K,DLGAP1:NM_001242765:exon4:c.G502A:p.E168K,DLGAP1:NM_001242766:exon4:c.G502A:p.E168K,DLGAP1:NM_001308390:exon4:c.G526A:p.E176K,DLGAP1:NM_001242761:exon7:c.G1408A:p.E470K,DLGAP1:NM_004746:exon7:c.G1408A:p.E470K",D,D,D,D,D,D
chr18,5291648,5291648,C,T,R007_S,ZBTB14,Missense_Mutation,NM_003409,exon3,c.G559A,p.D187N,SNP,SNVindel,exonic,ZBTB14,NA,nonsynonymous SNV,"ZBTB14:NM_003409:exon3:c.G559A:p.D187N,ZBTB14:NM_001143823:exon4:c.G559A:p.D187N,ZBTB14:NM_001243702:exon4:c.G559A:p.D187N,ZBTB14:NM_001243704:exon4:c.G559A:p.D187N",T,D,D,T,N,T
chr18,5890443,5890443,C,T,R007_S,TMEM200C,Silent,NM_001080209,exon3,c.G1620A,p.L540L,SNP,SNVindel,exonic,TMEM200C,NA,synonymous SNV,TMEM200C:NM_001080209:exon3:c.G1620A:p.L540L,NA,NA,NA,NA,NA,NA
chr18,5956314,5956314,G,A,R007_S,L3MBTL4,Missense_Mutation,NM_001330559,exon19,c.C1750T,p.P584S,SNP,SNVindel,exonic,L3MBTL4,NA,nonsynonymous SNV,"L3MBTL4:NM_001330559:exon19:c.C1750T:p.P584S,L3MBTL4:NM_001365765:exon19:c.C1750T:p.P584S,L3MBTL4:NM_001365770:exon20:c.C1777T:p.P593S,L3MBTL4:NM_173464:exon20:c.C1777T:p.P593S",D,D,D,T,D,D
chr18,6851081,6851081,G,A,R007_S,ARHGAP28,Missense_Mutation,NM_001010000,exon3,c.G115A,p.E39K,SNP,SNVindel,exonic,ARHGAP28,NA,nonsynonymous SNV,"ARHGAP28:NM_001010000:exon3:c.G115A:p.E39K,ARHGAP28:NM_001366230:exon4:c.G592A:p.E198K,ARHGAP28:NM_001366231:exon4:c.G592A:p.E198K",T,N,N,T,N,T
chr18,6889888,6889888,C,T,R007_S,ARHGAP28,Missense_Mutation,NM_001010000,exon12,c.C1061T,p.A354V,SNP,SNVindel,exonic,ARHGAP28,NA,nonsynonymous SNV,"ARHGAP28:NM_001010000:exon12:c.C1061T:p.A354V,ARHGAP28:NM_001366230:exon13:c.C1538T:p.A513V,ARHGAP28:NM_001366231:exon13:c.C1538T:p.A513V",D,N,D,T,D,T
chr18,6949118,6949118,C,T,R007_S,LAMA1,Silent,NM_005559,exon59,c.G8538A,p.Q2846Q,SNP,SNVindel,exonic,LAMA1,NA,synonymous SNV,LAMA1:NM_005559:exon59:c.G8538A:p.Q2846Q,NA,NA,NA,NA,NA,NA
chr18,6958493,6958493,G,A,R007_S,LAMA1,Silent,NM_005559,exon55,c.C7947T,p.N2649N,SNP,SNVindel,exonic,LAMA1,NA,synonymous SNV,LAMA1:NM_005559:exon55:c.C7947T:p.N2649N,NA,NA,NA,NA,NA,NA
chr18,7117680,7117680,C,T,R007_S,LAMA1,Missense_Mutation,NM_005559,exon1,c.G40A,p.A14T,SNP,SNVindel,exonic,LAMA1,NA,nonsynonymous SNV,LAMA1:NM_005559:exon1:c.G40A:p.A14T,T,N,N,T,N,T
chr18,7231706,7231706,C,T,R007_S,LRRC30,Silent,NM_001105581,exon1,c.C570T,p.F190F,SNP,SNVindel,exonic,LRRC30,NA,synonymous SNV,LRRC30:NM_001105581:exon1:c.C570T:p.F190F,NA,NA,NA,NA,NA,NA
chr18,7231918,7231918,C,T,R007_S,LRRC30,Missense_Mutation,NM_001105581,exon1,c.C782T,p.A261V,SNP,SNVindel,exonic,LRRC30,NA,nonsynonymous SNV,LRRC30:NM_001105581:exon1:c.C782T:p.A261V,D,D,D,T,N,T
chr18,7955380,7955380,G,A,R007_S,PTPRM,Missense_Mutation,NM_001105244,exon7,c.G1100A,p.G367D,SNP,SNVindel,exonic,PTPRM,NA,nonsynonymous SNV,"PTPRM:NM_001105244:exon7:c.G1100A:p.G367D,PTPRM:NM_002845:exon7:c.G1100A:p.G367D",D,D,D,D,D,D
chr18,8819120,8819120,C,T,R007_S,MTCL1,Missense_Mutation,NM_015210,exon13,c.C3019T,p.P1007S,SNP,SNVindel,exonic,MTCL1,NA,nonsynonymous SNV,MTCL1:NM_015210:exon13:c.C3019T:p.P1007S,T,D,N,T,N,T
chr18,9257166,9257166,G,A,R007_S,ANKRD12,Missense_Mutation,NM_001083625,exon8,c.G3832A,p.G1278R,SNP,SNVindel,exonic,ANKRD12,NA,nonsynonymous SNV,"ANKRD12:NM_001083625:exon8:c.G3832A:p.G1278R,ANKRD12:NM_001204056:exon8:c.G3832A:p.G1278R,ANKRD12:NM_015208:exon9:c.G3901A:p.G1301R",T,N,N,T,N,T
chr18,9396486,9396486,C,T,R007_S,TWSG1,Silent,NM_020648,exon4,c.C432T,p.H144H,SNP,SNVindel,exonic,TWSG1,NA,synonymous SNV,TWSG1:NM_020648:exon4:c.C432T:p.H144H,NA,NA,NA,NA,NA,NA
chr18,10468472,10468472,G,A,R007_S,APCDD1,Missense_Mutation,NM_153000,exon2,c.G65A,p.G22E,SNP,SNVindel,exonic,APCDD1,NA,nonsynonymous SNV,APCDD1:NM_153000:exon2:c.G65A:p.G22E,D,D,D,T,N,T
chr18,10487705,10487705,C,T,R007_S,APCDD1,Silent,NM_153000,exon5,c.C1215T,p.T405T,SNP,SNVindel,exonic,APCDD1,NA,synonymous SNV,APCDD1:NM_153000:exon5:c.C1215T:p.T405T,NA,NA,NA,NA,NA,NA
chr18,10705419,10705419,C,T,R007_S,PIEZO2,Missense_Mutation,NM_022068,exon37,c.G5575A,p.D1859N,SNP,SNVindel,exonic,PIEZO2,NA,nonsynonymous SNV,PIEZO2:NM_022068:exon37:c.G5575A:p.D1859N,T,.,D,T,N,T
chr18,10761075,10761075,T,A,R007_S,PIEZO2,Missense_Mutation,NM_022068,exon22,c.A3209T,p.E1070V,SNP,SNVindel,exonic,PIEZO2,NA,nonsynonymous SNV,PIEZO2:NM_022068:exon22:c.A3209T:p.E1070V,D,D,D,T,D,T
chr18,12028969,12028969,G,A,R007_S,IMPA2,Missense_Mutation,NM_014214,exon7,c.G728A,p.G243D,SNP,SNVindel,exonic,IMPA2,NA,nonsynonymous SNV,IMPA2:NM_014214:exon7:c.G728A:p.G243D,D,D,D,D,D,D
chr18,12274106,12274106,C,T,R007_S,CIDEA,Silent,NM_001279,exon4,c.C345T,p.V115V,SNP,SNVindel,exonic,CIDEA,NA,synonymous SNV,"CIDEA:NM_001279:exon4:c.C345T:p.V115V,CIDEA:NM_001318383:exon4:c.C447T:p.V149V",NA,NA,NA,NA,NA,NA
chr18,12308724,12308724,G,A,R007_S,TUBB6,Silent,NM_001303525,exon2,c.G96A,p.P32P,SNP,SNVindel,exonic,TUBB6,NA,synonymous SNV,"TUBB6:NM_001303525:exon2:c.G96A:p.P32P,TUBB6:NM_001303526:exon2:c.G96A:p.P32P,TUBB6:NM_032525:exon2:c.G96A:p.P32P,TUBB6:NM_001303524:exon3:c.G96A:p.P32P",NA,NA,NA,NA,NA,NA
chr18,12325329,12325329,G,A,R007_S,TUBB6,Missense_Mutation,NM_001303526,exon3,c.G430A,p.E144K,SNP,SNVindel,exonic,TUBB6,NA,nonsynonymous SNV,"TUBB6:NM_001303526:exon3:c.G430A:p.E144K,TUBB6:NM_001303527:exon3:c.G325A:p.E109K,TUBB6:NM_001303529:exon4:c.G103A:p.E35K,TUBB6:NM_032525:exon4:c.G541A:p.E181K,TUBB6:NM_001303524:exon5:c.G541A:p.E181K,TUBB6:NM_001303528:exon5:c.G346A:p.E116K,TUBB6:NM_001303530:exon5:c.G103A:p.E35K",D,D,D,T,D,D
chr18,12884120,12884120,C,T,R007_S,PTPN2,Silent,NM_001207013,exon1,c.G21A,p.R7R,SNP,SNVindel,exonic,PTPN2,NA,synonymous SNV,"PTPN2:NM_001207013:exon1:c.G21A:p.R7R,PTPN2:NM_002828:exon1:c.G21A:p.R7R,PTPN2:NM_080422:exon1:c.G21A:p.R7R,PTPN2:NM_080423:exon1:c.G21A:p.R7R",NA,NA,NA,NA,NA,NA
chr18,13056646,13056646,G,A,R007_S,CEP192,Missense_Mutation,NM_032142,exon19,c.G4057A,p.G1353S,SNP,SNVindel,exonic,CEP192,NA,nonsynonymous SNV,CEP192:NM_032142:exon19:c.G4057A:p.G1353S,T,N,N,T,N,T
chr18,14105600,14105600,G,A,R007_S,ZNF519,Silent,NM_145287,exon3,c.C939T,p.I313I,SNP,SNVindel,exonic,ZNF519,NA,synonymous SNV,ZNF519:NM_145287:exon3:c.C939T:p.I313I,NA,NA,NA,NA,NA,NA
chr18,21131642,21131642,C,T,R007_S,NPC1,Missense_Mutation,NM_000271,exon10,c.G1603A,p.G535S,SNP,SNVindel,exonic,NPC1,NA,nonsynonymous SNV,NPC1:NM_000271:exon10:c.G1603A:p.G535S,T,D,D,D,D,D
chr18,21136458,21136458,C,T,R007_S,NPC1,Missense_Mutation,NM_000271,exon8,c.G1075A,p.V359I,SNP,SNVindel,exonic,NPC1,NA,nonsynonymous SNV,NPC1:NM_000271:exon8:c.G1075A:p.V359I,T,N,D,D,N,T
chr18,21479340,21479340,C,T,R007_S,LAMA3,Silent,NM_000227,exon10,c.C1098T,p.R366R,SNP,SNVindel,exonic,LAMA3,NA,synonymous SNV,"LAMA3:NM_000227:exon10:c.C1098T:p.R366R,LAMA3:NM_198129:exon47:c.C5925T:p.R1975R",NA,NA,NA,NA,NA,NA
chr18,21533021,21533021,C,T,R007_S,LAMA3,Silent,NM_001127718,exon36,c.C4809T,p.I1603I,SNP,SNVindel,exonic,LAMA3,NA,synonymous SNV,"LAMA3:NM_001127718:exon36:c.C4809T:p.I1603I,LAMA3:NM_000227:exon37:c.C4977T:p.I1659I,LAMA3:NM_001127717:exon73:c.C9636T:p.I3212I,LAMA3:NM_198129:exon74:c.C9804T:p.I3268I",NA,NA,NA,NA,NA,NA
chr18,21594910,21594910,G,A,R007_S,TTC39C,Silent,NM_001135993,exon1,c.G75A,p.A25A,SNP,SNVindel,exonic,TTC39C,NA,synonymous SNV,"TTC39C:NM_001135993:exon1:c.G75A:p.A25A,TTC39C:NM_001243425:exon1:c.G75A:p.A25A",NA,NA,NA,NA,NA,NA
chr18,21736244,21736244,C,T,R007_S,CABYR,Missense_Mutation,NM_001308231,exon2,c.C485T,p.S162F,SNP,SNVindel,exonic,CABYR,NA,nonsynonymous SNV,"CABYR:NM_001308231:exon2:c.C485T:p.S162F,CABYR:NM_153768:exon3:c.C725T:p.S242F,CABYR:NM_012189:exon4:c.C779T:p.S260F",D,N,D,T,N,T
chr18,23612481,23612481,C,T,R007_S,SS18,Missense_Mutation,NM_005637,exon9,c.G1019A,p.G340D,SNP,SNVindel,exonic,SS18,NA,nonsynonymous SNV,"SS18:NM_005637:exon9:c.G1019A:p.G340D,SS18:NM_001007559:exon10:c.G1112A:p.G371D,SS18:NM_001308201:exon10:c.G1043A:p.G348D",D,D,D,T,D,T
chr18,23619277,23619277,G,A,R007_S,SS18,Missense_Mutation,NM_001007559,exon6,c.C751T,p.P251S,SNP,SNVindel,exonic,SS18,NA,nonsynonymous SNV,"SS18:NM_001007559:exon6:c.C751T:p.P251S,SS18:NM_001308201:exon6:c.C682T:p.P228S,SS18:NM_005637:exon6:c.C751T:p.P251S",T,D,D,T,N,T
chr18,24496858,24496858,C,T,R007_S,CHST9,Missense_Mutation,NM_031422,exon6,c.G697A,p.V233I,SNP,SNVindel,exonic,CHST9,NA,nonsynonymous SNV,CHST9:NM_031422:exon6:c.G697A:p.V233I,.,D,D,T,.,T
chr18,28710671,28710671,C,T,R007_S,DSC1,Missense_Mutation,NM_024421,exon16,c.G2491A,p.V831M,SNP,SNVindel,exonic,DSC1,NA,nonsynonymous SNV,DSC1:NM_024421:exon16:c.G2491A:p.V831M,D,D,D,T,N,D
chr18,28934609,28934609,G,A,R007_S,DSG1,Missense_Mutation,NM_001942,exon15,c.G2450A,p.G817E,SNP,SNVindel,exonic,DSG1,NA,nonsynonymous SNV,DSG1:NM_001942:exon15:c.G2450A:p.G817E,T,D,D,T,N,T
chr18,29052275,29052275,C,T,R007_S,DSG3,Silent,NM_001944,exon13,c.C1926T,p.D642D,SNP,SNVindel,exonic,DSG3,NA,synonymous SNV,DSG3:NM_001944:exon13:c.C1926T:p.D642D,NA,NA,NA,NA,NA,NA
chr18,29432432,29432432,C,T,R007_S,TRAPPC8,Missense_Mutation,NM_014939,exon24,c.G3538A,p.D1180N,SNP,SNVindel,exonic,TRAPPC8,NA,nonsynonymous SNV,TRAPPC8:NM_014939:exon24:c.G3538A:p.D1180N,T,D,D,T,N,T
chr18,29522675,29522675,G,A,R007_S,TRAPPC8,Missense_Mutation,NM_014939,exon1,c.C53T,p.P18L,SNP,SNVindel,exonic,TRAPPC8,NA,nonsynonymous SNV,TRAPPC8:NM_014939:exon1:c.C53T:p.P18L,D,D,D,T,D,T
chr18,31224937,31224937,C,T,R007_S,ASXL3,Missense_Mutation,NM_030632,exon3,c.C217T,p.P73S,SNP,SNVindel,exonic,ASXL3,NA,nonsynonymous SNV,ASXL3:NM_030632:exon3:c.C217T:p.P73S,D,.,D,T,D,T
chr18,31241613,31241613,C,T,R007_S,ASXL3,Missense_Mutation,NM_030632,exon5,c.C389T,p.S130F,SNP,SNVindel,exonic,ASXL3,NA,nonsynonymous SNV,ASXL3:NM_030632:exon5:c.C389T:p.S130F,D,.,D,T,D,T
chr18,31323134,31323134,G,A,R007_S,ASXL3,Missense_Mutation,NM_030632,exon12,c.G3322A,p.A1108T,SNP,SNVindel,exonic,ASXL3,NA,nonsynonymous SNV,ASXL3:NM_030632:exon12:c.G3322A:p.A1108T,D,N,D,T,N,T
chr18,31325728,31325728,G,A,R007_S,ASXL3,Silent,NM_030632,exon12,c.G5916A,p.L1972L,SNP,SNVindel,exonic,ASXL3,NA,synonymous SNV,ASXL3:NM_030632:exon12:c.G5916A:p.L1972L,NA,NA,NA,NA,NA,NA
chr18,33706928,33706928,G,A,R007_S,SLC39A6,Missense_Mutation,NM_012319,exon2,c.C43T,p.L15F,SNP,SNVindel,exonic,SLC39A6,NA,nonsynonymous SNV,SLC39A6:NM_012319:exon2:c.C43T:p.L15F,T,N,N,T,N,T
chr18,34415208,34415208,G,A,R007_S,KIAA1328,Missense_Mutation,NM_001353918,exon3,c.G106A,p.E36K,SNP,SNVindel,exonic,KIAA1328,NA,nonsynonymous SNV,"KIAA1328:NM_001353918:exon3:c.G106A:p.E36K,KIAA1328:NM_020776:exon3:c.G106A:p.E36K",T,N,D,T,N,T
chr18,34846506,34846506,C,T,R007_S,CELF4,Silent,NM_001025087,exon9,c.G1152A,p.Q384Q,SNP,SNVindel,exonic,CELF4,NA,synonymous SNV,"CELF4:NM_001025087:exon9:c.G1152A:p.Q384Q,CELF4:NM_001025088:exon9:c.G1149A:p.Q383Q,CELF4:NM_001025089:exon9:c.G1125A:p.Q375Q,CELF4:NM_001330603:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353695:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353696:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353697:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353698:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353699:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353700:exon9:c.G1125A:p.Q375Q,CELF4:NM_001353702:exon9:c.G1149A:p.Q383Q,CELF4:NM_001353703:exon9:c.G1125A:p.Q375Q,CELF4:NM_001353705:exon9:c.G1119A:p.Q373Q,CELF4:NM_001353706:exon9:c.G1119A:p.Q373Q,CELF4:NM_001353707:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353708:exon9:c.G1155A:p.Q385Q,CELF4:NM_001353709:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353710:exon9:c.G1125A:p.Q375Q,CELF4:NM_001353711:exon9:c.G1119A:p.Q373Q,CELF4:NM_001353712:exon9:c.G1149A:p.Q383Q,CELF4:NM_001353713:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353714:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353715:exon9:c.G1125A:p.Q375Q,CELF4:NM_001353716:exon9:c.G1149A:p.Q383Q,CELF4:NM_001353717:exon9:c.G1125A:p.Q375Q,CELF4:NM_001353718:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353719:exon9:c.G1125A:p.Q375Q,CELF4:NM_001353720:exon9:c.G1125A:p.Q375Q,CELF4:NM_001353721:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353722:exon9:c.G1119A:p.Q373Q,CELF4:NM_001353723:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353724:exon9:c.G1155A:p.Q385Q,CELF4:NM_001353725:exon9:c.G1119A:p.Q373Q,CELF4:NM_001353726:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353727:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353728:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353729:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353730:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353731:exon9:c.G1155A:p.Q385Q,CELF4:NM_001353732:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353733:exon9:c.G1119A:p.Q373Q,CELF4:NM_001353734:exon9:c.G1155A:p.Q385Q,CELF4:NM_001353735:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353736:exon9:c.G1155A:p.Q385Q,CELF4:NM_001353737:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353738:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353739:exon9:c.G1119A:p.Q373Q,CELF4:NM_001353740:exon9:c.G1155A:p.Q385Q,CELF4:NM_001353741:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353742:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353743:exon9:c.G1155A:p.Q385Q,CELF4:NM_001353744:exon9:c.G1155A:p.Q385Q,CELF4:NM_001353745:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353746:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353747:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353748:exon9:c.G1125A:p.Q375Q,CELF4:NM_001353749:exon9:c.G1152A:p.Q384Q,CELF4:NM_001353750:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353751:exon9:c.G1155A:p.Q385Q,CELF4:NM_001353752:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353753:exon9:c.G1122A:p.Q374Q,CELF4:NM_001353754:exon9:c.G1149A:p.Q383Q,CELF4:NM_001353755:exon9:c.G1119A:p.Q373Q,CELF4:NM_001353756:exon9:c.G783A:p.Q261Q,CELF4:NM_001353757:exon9:c.G756A:p.Q252Q,CELF4:NM_001353758:exon9:c.G753A:p.Q251Q,CELF4:NM_001353759:exon9:c.G753A:p.Q251Q,CELF4:NM_001353760:exon9:c.G756A:p.Q252Q,CELF4:NM_001353761:exon9:c.G783A:p.Q261Q,CELF4:NM_020180:exon9:c.G1155A:p.Q385Q",NA,NA,NA,NA,NA,NA
chr18,34854410,34854410,G,A,R007_S,CELF4,Missense_Mutation,NM_001025087,exon6,c.C665T,p.S222L,SNP,SNVindel,exonic,CELF4,NA,nonsynonymous SNV,"CELF4:NM_001025087:exon6:c.C665T:p.S222L,CELF4:NM_001025088:exon6:c.C662T:p.S221L,CELF4:NM_001025089:exon6:c.C635T:p.S212L,CELF4:NM_001330603:exon6:c.C662T:p.S221L,CELF4:NM_001353695:exon6:c.C632T:p.S211L,CELF4:NM_001353696:exon6:c.C662T:p.S221L,CELF4:NM_001353697:exon6:c.C632T:p.S211L,CELF4:NM_001353698:exon6:c.C662T:p.S221L,CELF4:NM_001353699:exon6:c.C635T:p.S212L,CELF4:NM_001353700:exon6:c.C635T:p.S212L,CELF4:NM_001353702:exon6:c.C662T:p.S221L,CELF4:NM_001353703:exon6:c.C635T:p.S212L,CELF4:NM_001353705:exon6:c.C632T:p.S211L,CELF4:NM_001353706:exon6:c.C632T:p.S211L,CELF4:NM_001353707:exon6:c.C632T:p.S211L,CELF4:NM_001353708:exon6:c.C665T:p.S222L,CELF4:NM_001353709:exon6:c.C632T:p.S211L,CELF4:NM_001353710:exon6:c.C635T:p.S212L,CELF4:NM_001353711:exon6:c.C632T:p.S211L,CELF4:NM_001353712:exon6:c.C662T:p.S221L,CELF4:NM_001353713:exon6:c.C635T:p.S212L,CELF4:NM_001353714:exon6:c.C632T:p.S211L,CELF4:NM_001353715:exon6:c.C635T:p.S212L,CELF4:NM_001353716:exon6:c.C662T:p.S221L,CELF4:NM_001353717:exon6:c.C635T:p.S212L,CELF4:NM_001353718:exon6:c.C662T:p.S221L,CELF4:NM_001353719:exon6:c.C635T:p.S212L,CELF4:NM_001353720:exon6:c.C635T:p.S212L,CELF4:NM_001353721:exon6:c.C635T:p.S212L,CELF4:NM_001353722:exon6:c.C632T:p.S211L,CELF4:NM_001353723:exon6:c.C665T:p.S222L,CELF4:NM_001353724:exon6:c.C665T:p.S222L,CELF4:NM_001353725:exon6:c.C632T:p.S211L,CELF4:NM_001353726:exon6:c.C632T:p.S211L,CELF4:NM_001353727:exon6:c.C632T:p.S211L,CELF4:NM_001353728:exon6:c.C632T:p.S211L,CELF4:NM_001353729:exon6:c.C662T:p.S221L,CELF4:NM_001353730:exon6:c.C662T:p.S221L,CELF4:NM_001353731:exon6:c.C665T:p.S222L,CELF4:NM_001353732:exon6:c.C632T:p.S211L,CELF4:NM_001353733:exon6:c.C632T:p.S211L,CELF4:NM_001353734:exon6:c.C665T:p.S222L,CELF4:NM_001353735:exon6:c.C632T:p.S211L,CELF4:NM_001353736:exon6:c.C665T:p.S222L,CELF4:NM_001353737:exon6:c.C662T:p.S221L,CELF4:NM_001353738:exon6:c.C662T:p.S221L,CELF4:NM_001353739:exon6:c.C632T:p.S211L,CELF4:NM_001353740:exon6:c.C665T:p.S222L,CELF4:NM_001353741:exon6:c.C635T:p.S212L,CELF4:NM_001353742:exon6:c.C662T:p.S221L,CELF4:NM_001353743:exon6:c.C665T:p.S222L,CELF4:NM_001353744:exon6:c.C665T:p.S222L,CELF4:NM_001353745:exon6:c.C665T:p.S222L,CELF4:NM_001353746:exon6:c.C665T:p.S222L,CELF4:NM_001353747:exon6:c.C665T:p.S222L,CELF4:NM_001353748:exon6:c.C635T:p.S212L,CELF4:NM_001353749:exon6:c.C662T:p.S221L,CELF4:NM_001353750:exon6:c.C635T:p.S212L,CELF4:NM_001353751:exon6:c.C665T:p.S222L,CELF4:NM_001353752:exon6:c.C635T:p.S212L,CELF4:NM_001353753:exon6:c.C632T:p.S211L,CELF4:NM_001353754:exon6:c.C662T:p.S221L,CELF4:NM_001353755:exon6:c.C632T:p.S211L,CELF4:NM_001353756:exon6:c.C293T:p.S98L,CELF4:NM_001353757:exon6:c.C266T:p.S89L,CELF4:NM_001353758:exon6:c.C263T:p.S88L,CELF4:NM_001353759:exon6:c.C263T:p.S88L,CELF4:NM_001353760:exon6:c.C266T:p.S89L,CELF4:NM_001353761:exon6:c.C293T:p.S98L,CELF4:NM_020180:exon6:c.C665T:p.S222L",D,D,D,T,D,T
chr18,39575908,39575908,C,T,R007_S,PIK3C3,Missense_Mutation,NM_001308020,exon7,c.C652T,p.P218S,SNP,SNVindel,exonic,PIK3C3,NA,nonsynonymous SNV,"PIK3C3:NM_001308020:exon7:c.C652T:p.P218S,PIK3C3:NM_002647:exon8:c.C841T:p.P281S",T,D,D,T,N,T
chr18,40850351,40850351,G,A,R007_S,SYT4,Silent,NM_020783,exon4,c.C1233T,p.Y411Y,SNP,SNVindel,exonic,SYT4,NA,synonymous SNV,SYT4:NM_020783:exon4:c.C1233T:p.Y411Y,NA,NA,NA,NA,NA,NA
chr18,43467838,43467838,G,A,R007_S,EPG5,Missense_Mutation,NM_020964,exon29,c.C4987T,p.P1663S,SNP,SNVindel,exonic,EPG5,NA,nonsynonymous SNV,EPG5:NM_020964:exon29:c.C4987T:p.P1663S,T,.,D,T,N,T
chr18,44236964,44236964,C,T,R007_S,LOXHD1,Silent,NM_144612,exon1,c.G33A,p.K11K,SNP,SNVindel,exonic,LOXHD1,NA,synonymous SNV,LOXHD1:NM_144612:exon1:c.G33A:p.K11K,NA,NA,NA,NA,NA,NA
chr18,44470659,44470659,G,A,R007_S,PIAS2,Missense_Mutation,NM_001324058,exon2,c.C383T,p.P128L,SNP,SNVindel,exonic,PIAS2,NA,nonsynonymous SNV,"PIAS2:NM_001324058:exon2:c.C383T:p.P128L,PIAS2:NM_001324060:exon2:c.C395T:p.P132L,PIAS2:NM_001354034:exon2:c.C383T:p.P128L,PIAS2:NM_004671:exon2:c.C383T:p.P128L,PIAS2:NM_173206:exon2:c.C383T:p.P128L,PIAS2:NM_001324047:exon3:c.C356T:p.P119L,PIAS2:NM_001324051:exon3:c.C356T:p.P119L,PIAS2:NM_001324054:exon3:c.C356T:p.P119L,PIAS2:NM_001354036:exon3:c.C356T:p.P119L,PIAS2:NM_001354037:exon3:c.C356T:p.P119L,PIAS2:NM_001324046:exon4:c.C356T:p.P119L,PIAS2:NM_001324048:exon4:c.C356T:p.P119L,PIAS2:NM_001324055:exon4:c.C356T:p.P119L,PIAS2:NM_001324059:exon4:c.C356T:p.P119L,PIAS2:NM_001354033:exon4:c.C356T:p.P119L,PIAS2:NM_001354039:exon4:c.C356T:p.P119L,PIAS2:NM_001324049:exon5:c.C356T:p.P119L,PIAS2:NM_001324052:exon5:c.C356T:p.P119L,PIAS2:NM_001324053:exon5:c.C356T:p.P119L,PIAS2:NM_001324057:exon5:c.C356T:p.P119L,PIAS2:NM_001354035:exon5:c.C356T:p.P119L,PIAS2:NM_001354038:exon5:c.C356T:p.P119L",T,D,D,T,N,T
chr18,46190130,46190130,G,A,R007_S,CTIF,Missense_Mutation,NM_014772,exon4,c.G260A,p.S87N,SNP,SNVindel,exonic,CTIF,NA,nonsynonymous SNV,"CTIF:NM_014772:exon4:c.G260A:p.S87N,CTIF:NM_001142397:exon5:c.G260A:p.S87N",T,N,N,T,N,T
chr18,47101751,47101751,C,A,R007_S,LIPG,Missense_Mutation,NM_006033,exon5,c.C584A,p.A195D,SNP,SNVindel,exonic,LIPG,NA,nonsynonymous SNV,LIPG:NM_006033:exon5:c.C584A:p.A195D,D,D,D,D,D,D
chr18,47810125,47810125,G,A,R007_S,CXXC1,Missense_Mutation,NM_001101654,exon11,c.C1486T,p.P496S,SNP,SNVindel,exonic,CXXC1,NA,nonsynonymous SNV,"CXXC1:NM_001101654:exon11:c.C1486T:p.P496S,CXXC1:NM_014593:exon11:c.C1474T:p.P492S",T,D,D,T,N,T
chr18,48241527,48241527,G,A,R007_S,MAPK4,Missense_Mutation,NM_001292040,exon3,c.G625A,p.A209T,SNP,SNVindel,exonic,MAPK4,NA,nonsynonymous SNV,"MAPK4:NM_001292040:exon3:c.G625A:p.A209T,MAPK4:NM_002747:exon3:c.G625A:p.A209T",D,D,D,T,D,T
chr18,48255983,48255983,G,A,R007_S,MAPK4,Missense_Mutation,NM_001292039,exon5,c.G890A,p.S297N,SNP,SNVindel,exonic,MAPK4,NA,nonsynonymous SNV,"MAPK4:NM_001292039:exon5:c.G890A:p.S297N,MAPK4:NM_002747:exon6:c.G1523A:p.S508N",T,U,D,T,N,T
chr18,48510625,48510625,C,T,R007_S,ELAC1,Missense_Mutation,NM_018696,exon3,c.C317T,p.T106I,SNP,SNVindel,exonic,ELAC1,NA,nonsynonymous SNV,ELAC1:NM_018696:exon3:c.C317T:p.T106I,T,D,D,T,N,T
chr18,48510687,48510687,G,A,R007_S,ELAC1,Missense_Mutation,NM_018696,exon3,c.G379A,p.A127T,SNP,SNVindel,exonic,ELAC1,NA,nonsynonymous SNV,ELAC1:NM_018696:exon3:c.G379A:p.A127T,T,N,N,T,N,T
chr18,48510927,48510927,G,A,R007_S,ELAC1,Missense_Mutation,NM_018696,exon3,c.G619A,p.D207N,SNP,SNVindel,exonic,ELAC1,NA,nonsynonymous SNV,ELAC1:NM_018696:exon3:c.G619A:p.D207N,T,D,D,T,N,T
chr18,48703157,48703157,G,A,R007_S,MEX3C,Missense_Mutation,NM_016626,exon2,c.C1544T,p.P515L,SNP,SNVindel,exonic,MEX3C,NA,nonsynonymous SNV,MEX3C:NM_016626:exon2:c.C1544T:p.P515L,T,N,D,T,N,T
chr18,51797750,51797750,C,T,R007_S,POLI,Missense_Mutation,NM_001351613,exon2,c.C136T,p.P46S,SNP,SNVindel,exonic,POLI,NA,nonsynonymous SNV,"POLI:NM_001351613:exon2:c.C136T:p.P46S,POLI:NM_001351621:exon2:c.C136T:p.P46S,POLI:NM_001351632:exon2:c.C61T:p.P21S,POLI:NM_007195:exon2:c.C136T:p.P46S",T,N,D,T,N,T
chr18,51888490,51888490,C,T,R007_S,C18orf54,Missense_Mutation,NM_001370309,exon3,c.C761T,p.T254I,SNP,SNVindel,exonic,C18orf54,NA,nonsynonymous SNV,"C18orf54:NM_001370309:exon3:c.C761T:p.T254I,C18orf54:NM_001288980:exon4:c.C761T:p.T254I,C18orf54:NM_001288981:exon4:c.C761T:p.T254I",D,D,D,T,D,T
chr18,51888590,51888590,G,A,R007_S,C18orf54,Silent,NM_001370309,exon3,c.G861A,p.Q287Q,SNP,SNVindel,exonic,C18orf54,NA,synonymous SNV,"C18orf54:NM_001370309:exon3:c.G861A:p.Q287Q,C18orf54:NM_001288980:exon4:c.G861A:p.Q287Q,C18orf54:NM_001288981:exon4:c.G861A:p.Q287Q",NA,NA,NA,NA,NA,NA
chr18,52586568,52586568,C,T,R007_S,CCDC68,Silent,NM_001143829,exon9,c.G723A,p.E241E,SNP,SNVindel,exonic,CCDC68,NA,synonymous SNV,"CCDC68:NM_001143829:exon9:c.G723A:p.E241E,CCDC68:NM_025214:exon9:c.G723A:p.E241E",NA,NA,NA,NA,NA,NA
chr18,52969652,52969652,C,T,R007_S,TCF4,Missense_Mutation,NM_001243236,exon1,c.G64A,p.A22T,SNP,SNVindel,exonic,TCF4,NA,nonsynonymous SNV,"TCF4:NM_001243236:exon1:c.G64A:p.A22T,TCF4:NM_001348216:exon1:c.G64A:p.A22T",T,.,D,T,N,.
chr18,54385206,54385206,G,A,R007_S,WDR7,Silent,NM_015285,exon13,c.G1590A,p.Q530Q,SNP,SNVindel,exonic,WDR7,NA,synonymous SNV,"WDR7:NM_015285:exon13:c.G1590A:p.Q530Q,WDR7:NM_052834:exon13:c.G1590A:p.Q530Q",NA,NA,NA,NA,NA,NA
chr18,54424071,54424071,G,A,R007_S,WDR7,Silent,NM_015285,exon15,c.G2247A,p.T749T,SNP,SNVindel,exonic,WDR7,NA,synonymous SNV,"WDR7:NM_015285:exon15:c.G2247A:p.T749T,WDR7:NM_052834:exon15:c.G2247A:p.T749T",NA,NA,NA,NA,NA,NA
chr18,54814594,54814594,C,A,R007_S,BOD1L2,Silent,NM_001257964,exon1,c.C51A,p.T17T,SNP,SNVindel,exonic,BOD1L2,NA,synonymous SNV,BOD1L2:NM_001257964:exon1:c.C51A:p.T17T,NA,NA,NA,NA,NA,NA
chr18,55355616,55355616,G,A,R007_S,ATP8B1,Silent,NM_005603,exon13,c.C1344T,p.I448I,SNP,SNVindel,exonic,ATP8B1,NA,synonymous SNV,ATP8B1:NM_005603:exon13:c.C1344T:p.I448I,NA,NA,NA,NA,NA,NA
chr18,56203175,56203175,G,A,R007_S,ALPK2,Missense_Mutation,NM_052947,exon5,c.C4244T,p.T1415I,SNP,SNVindel,exonic,ALPK2,NA,nonsynonymous SNV,ALPK2:NM_052947:exon5:c.C4244T:p.T1415I,D,.,N,T,N,T
chr18,56204530,56204530,G,A,R007_S,ALPK2,Silent,NM_052947,exon5,c.C2889T,p.S963S,SNP,SNVindel,exonic,ALPK2,NA,synonymous SNV,ALPK2:NM_052947:exon5:c.C2889T:p.S963S,NA,NA,NA,NA,NA,NA
chr18,56936301,56936301,C,A,R007_S,RAX,Missense_Mutation,NM_013435,exon3,c.G976T,p.A326S,SNP,SNVindel,exonic,RAX,NA,nonsynonymous SNV,RAX:NM_013435:exon3:c.G976T:p.A326S,D,D,D,D,N,D
chr18,59195285,59195285,G,A,R007_S,CDH20,Missense_Mutation,NM_031891,exon7,c.G1103A,p.G368D,SNP,SNVindel,exonic,CDH20,NA,nonsynonymous SNV,CDH20:NM_031891:exon7:c.G1103A:p.G368D,D,D,D,T,D,T
chr18,59217236,59217236,G,A,R007_S,CDH20,Silent,NM_031891,exon11,c.G1674A,p.R558R,SNP,SNVindel,exonic,CDH20,NA,synonymous SNV,CDH20:NM_031891:exon11:c.G1674A:p.R558R,NA,NA,NA,NA,NA,NA
chr18,61071042,61071042,G,A,R007_S,VPS4B,Nonsense_Mutation,NM_004869,exon5,c.C382T,p.R128X,SNP,SNVindel,exonic,VPS4B,NA,stopgain,VPS4B:NM_004869:exon5:c.C382T:p.R128X,.,D,A,.,.,.
chr18,67345025,67345025,G,A,R007_S,DOK6,Silent,NM_152721,exon4,c.G345A,p.R115R,SNP,SNVindel,exonic,DOK6,NA,synonymous SNV,DOK6:NM_152721:exon4:c.G345A:p.R115R,NA,NA,NA,NA,NA,NA
chr18,67563173,67563173,C,T,R007_S,CD226,Missense_Mutation,NM_001303619,exon2,c.G26A,p.R9K,SNP,SNVindel,exonic,CD226,NA,nonsynonymous SNV,"CD226:NM_001303619:exon2:c.G26A:p.R9K,CD226:NM_001303618:exon3:c.G491A:p.R164K,CD226:NM_006566:exon4:c.G491A:p.R164K",T,N,N,T,N,T
chr18,67992516,67992516,C,T,R007_S,SOCS6,Silent,NM_004232,exon2,c.C612T,p.H204H,SNP,SNVindel,exonic,SOCS6,NA,synonymous SNV,SOCS6:NM_004232:exon2:c.C612T:p.H204H,NA,NA,NA,NA,NA,NA
chr18,71740901,71740901,G,A,R007_S,FBXO15,Missense_Mutation,NM_001142958,exon10,c.C1328T,p.S443F,SNP,SNVindel,exonic,FBXO15,NA,nonsynonymous SNV,"FBXO15:NM_001142958:exon10:c.C1328T:p.S443F,FBXO15:NM_152676:exon10:c.C1100T:p.S367F",D,D,D,T,D,T
chr18,72343551,72343551,G,A,R007_S,ZNF407,Silent,NM_001146189,exon1,c.G576A,p.G192G,SNP,SNVindel,exonic,ZNF407,NA,synonymous SNV,"ZNF407:NM_001146189:exon1:c.G576A:p.G192G,ZNF407:NM_001146190:exon1:c.G576A:p.G192G,ZNF407:NM_017757:exon1:c.G576A:p.G192G",NA,NA,NA,NA,NA,NA
chr18,72346405,72346405,G,A,R007_S,ZNF407,Missense_Mutation,NM_001146189,exon1,c.G3430A,p.A1144T,SNP,SNVindel,exonic,ZNF407,NA,nonsynonymous SNV,"ZNF407:NM_001146189:exon1:c.G3430A:p.A1144T,ZNF407:NM_001146190:exon1:c.G3430A:p.A1144T,ZNF407:NM_017757:exon1:c.G3430A:p.A1144T",T,N,N,T,N,T
chr18,72999445,72999445,C,T,R007_S,TSHZ1,Missense_Mutation,NM_001308210,exon2,c.C2083T,p.P695S,SNP,SNVindel,exonic,TSHZ1,NA,nonsynonymous SNV,"TSHZ1:NM_001308210:exon2:c.C2083T:p.P695S,TSHZ1:NM_005786:exon2:c.C1948T:p.P650S",T,N,N,T,N,T
chr18,74208336,74208336,C,T,R007_S,C18orf65,Silent,NM_001272093,exon2,c.C180T,p.C60C,SNP,SNVindel,exonic,C18orf65,NA,synonymous SNV,C18orf65:NM_001272093:exon2:c.C180T:p.C60C,NA,NA,NA,NA,NA,NA
chr18,74587513,74587513,C,T,R007_S,ZNF236,Missense_Mutation,NM_001306089,exon6,c.C733T,p.H245Y,SNP,SNVindel,exonic,ZNF236,NA,nonsynonymous SNV,"ZNF236:NM_001306089:exon6:c.C733T:p.H245Y,ZNF236:NM_007345:exon6:c.C727T:p.H243Y",D,D,D,D,D,D
chr18,77104342,77104342,G,A,R007_S,ATP9B,Silent,NM_001306085,exon21,c.G2460A,p.G820G,SNP,SNVindel,exonic,ATP9B,NA,synonymous SNV,"ATP9B:NM_001306085:exon21:c.G2460A:p.G820G,ATP9B:NM_198531:exon21:c.G2460A:p.G820G",NA,NA,NA,NA,NA,NA
chr18,77137335,77137335,C,T,R007_S,ATP9B,Silent,NM_001306085,exon29,c.C3363T,p.Y1121Y,SNP,SNVindel,exonic,ATP9B,NA,synonymous SNV,"ATP9B:NM_001306085:exon29:c.C3363T:p.Y1121Y,ATP9B:NM_198531:exon30:c.C3396T:p.Y1132Y",NA,NA,NA,NA,NA,NA
chr18,77171190,77171190,C,T,R007_S,NFATC1,Silent,NM_001278669,exon2,c.C915T,p.T305T,SNP,SNVindel,exonic,NFATC1,NA,synonymous SNV,"NFATC1:NM_001278669:exon2:c.C915T:p.T305T,NFATC1:NM_001278670:exon2:c.C915T:p.T305T,NFATC1:NM_001278672:exon2:c.C876T:p.T292T,NFATC1:NM_001278675:exon2:c.C876T:p.T292T,NFATC1:NM_006162:exon2:c.C915T:p.T305T,NFATC1:NM_172387:exon2:c.C876T:p.T292T,NFATC1:NM_172389:exon2:c.C876T:p.T292T,NFATC1:NM_172390:exon2:c.C915T:p.T305T",NA,NA,NA,NA,NA,NA
chr18,77710822,77710822,C,T,R007_S,SLC66A2,Silent,NM_001146343,exon2,c.G105A,p.P35P,SNP,SNVindel,exonic,SLC66A2,NA,synonymous SNV,"SLC66A2:NM_001146343:exon2:c.G105A:p.P35P,SLC66A2:NM_001146345:exon2:c.G105A:p.P35P,SLC66A2:NM_025078:exon2:c.G105A:p.P35P",NA,NA,NA,NA,NA,NA
chr18,77917876,77917876,G,A,R007_S,PARD6G,Silent,NM_032510,exon3,c.C909T,p.I303I,SNP,SNVindel,exonic,PARD6G,NA,synonymous SNV,PARD6G:NM_032510:exon3:c.C909T:p.I303I,NA,NA,NA,NA,NA,NA
chr18,77917996,77917996,C,T,R007_S,PARD6G,Silent,NM_032510,exon3,c.G789A,p.L263L,SNP,SNVindel,exonic,PARD6G,NA,synonymous SNV,PARD6G:NM_032510:exon3:c.G789A:p.L263L,NA,NA,NA,NA,NA,NA
chr19,407327,407327,G,A,R007_S,C2CD4C,Silent,NM_001136263,exon2,c.C1035T,p.C345C,SNP,SNVindel,exonic,C2CD4C,NA,synonymous SNV,C2CD4C:NM_001136263:exon2:c.C1035T:p.C345C,NA,NA,NA,NA,NA,NA
chr19,407946,407946,G,A,R007_S,C2CD4C,Missense_Mutation,NM_001136263,exon2,c.C416T,p.P139L,SNP,SNVindel,exonic,C2CD4C,NA,nonsynonymous SNV,C2CD4C:NM_001136263:exon2:c.C416T:p.P139L,D,U,D,D,D,D
chr19,691894,691894,G,A,R007_S,PRSS57,Silent,NM_001308209,exon3,c.C342T,p.H114H,SNP,SNVindel,exonic,PRSS57,NA,synonymous SNV,"PRSS57:NM_001308209:exon3:c.C342T:p.H114H,PRSS57:NM_214710:exon3:c.C345T:p.H115H",NA,NA,NA,NA,NA,NA
chr19,746738,746738,G,A,R007_S,PALM,Missense_Mutation,NM_001040134,exon8,c.G956A,p.G319E,SNP,SNVindel,exonic,PALM,NA,nonsynonymous SNV,"PALM:NM_001040134:exon8:c.G956A:p.G319E,PALM:NM_002579:exon9:c.G1088A:p.G363E",T,N,N,T,N,T
chr19,758051,758051,G,A,R007_S,MISP,Missense_Mutation,NM_173481,exon2,c.G1105A,p.G369S,SNP,SNVindel,exonic,MISP,NA,nonsynonymous SNV,MISP:NM_173481:exon2:c.G1105A:p.G369S,D,N,D,T,N,D
chr19,807879,807879,C,T,R007_S,PTBP1,Missense_Mutation,NM_031991,exon10,c.C1052T,p.P351L,SNP,SNVindel,exonic,PTBP1,NA,nonsynonymous SNV,"PTBP1:NM_031991:exon10:c.C1052T:p.P351L,PTBP1:NM_002819:exon11:c.C1130T:p.P377L,PTBP1:NM_031990:exon11:c.C1109T:p.P370L",D,D,D,T,D,T
chr19,830815,830815,C,T,R007_S,AZU1,Silent,NM_001700,exon4,c.C468T,p.S156S,SNP,SNVindel,exonic,AZU1,NA,synonymous SNV,AZU1:NM_001700:exon4:c.C468T:p.S156S,NA,NA,NA,NA,NA,NA
chr19,846313,846313,C,T,R007_S,PRTN3,Missense_Mutation,NM_002777,exon4,c.C536T,p.T179I,SNP,SNVindel,exonic,PRTN3,NA,nonsynonymous SNV,PRTN3:NM_002777:exon4:c.C536T:p.T179I,D,.,N,T,D,T
chr19,855699,855699,G,A,R007_S,ELANE,Missense_Mutation,NM_001972,exon4,c.G502A,p.V168I,SNP,SNVindel,exonic,ELANE,NA,nonsynonymous SNV,ELANE:NM_001972:exon4:c.G502A:p.V168I,T,U,N,D,N,T
chr19,871984,871984,C,T,R007_S,MED16,Silent,NM_005481,exon12,c.G2040A,p.S680S,SNP,SNVindel,exonic,MED16,NA,synonymous SNV,MED16:NM_005481:exon12:c.G2040A:p.S680S,NA,NA,NA,NA,NA,NA
chr19,877130,877130,C,T,R007_S,MED16,Silent,NM_005481,exon9,c.G1404A,p.G468G,SNP,SNVindel,exonic,MED16,NA,synonymous SNV,MED16:NM_005481:exon9:c.G1404A:p.G468G,NA,NA,NA,NA,NA,NA
chr19,919564,919564,G,A,R007_S,KISS1R,Silent,NM_032551,exon3,c.G444A,p.L148L,SNP,SNVindel,exonic,KISS1R,NA,synonymous SNV,KISS1R:NM_032551:exon3:c.G444A:p.L148L,NA,NA,NA,NA,NA,NA
chr19,1014363,1014363,C,T,R007_S,TMEM259,Missense_Mutation,NM_001033026,exon2,c.G335A,p.R112H,SNP,SNVindel,exonic,TMEM259,NA,nonsynonymous SNV,"TMEM259:NM_001033026:exon2:c.G335A:p.R112H,TMEM259:NM_033420:exon2:c.G335A:p.R112H",D,D,D,.,D,T
chr19,1044687,1044687,C,T,R007_S,ABCA7,Nonsense_Mutation,NM_019112,exon11,c.C1159T,p.Q387X,SNP,SNVindel,exonic,ABCA7,NA,stopgain,ABCA7:NM_019112:exon11:c.C1159T:p.Q387X,.,.,A,.,.,.
chr19,1080768,1080768,C,T,R007_S,ARHGAP45,Missense_Mutation,NM_001282334,exon6,c.C905T,p.A302V,SNP,SNVindel,exonic,ARHGAP45,NA,nonsynonymous SNV,"ARHGAP45:NM_001282334:exon6:c.C905T:p.A302V,ARHGAP45:NM_001282335:exon15:c.C1649T:p.A550V,ARHGAP45:NM_001258328:exon16:c.C2048T:p.A683V,ARHGAP45:NM_001321232:exon16:c.C2012T:p.A671V,ARHGAP45:NM_012292:exon16:c.C2000T:p.A667V",T,U,N,T,N,T
chr19,1295719,1295719,C,T,R007_S,EFNA2,Nonsense_Mutation,NM_001405,exon2,c.C316T,p.Q106X,SNP,SNVindel,exonic,EFNA2,NA,stopgain,EFNA2:NM_001405:exon2:c.C316T:p.Q106X,.,U,A,.,.,.
chr19,1360539,1360539,C,T,R007_S,PWWP3A,Missense_Mutation,NM_001369792,exon4,c.C415T,p.H139Y,SNP,SNVindel,exonic,PWWP3A,NA,nonsynonymous SNV,"PWWP3A:NM_001369792:exon4:c.C415T:p.H139Y,PWWP3A:NM_001369793:exon4:c.C250T:p.H84Y,PWWP3A:NM_001369789:exon5:c.C619T:p.H207Y,PWWP3A:NM_001369790:exon5:c.C619T:p.H207Y,PWWP3A:NM_001369794:exon5:c.C619T:p.H207Y,PWWP3A:NM_032853:exon5:c.C619T:p.H207Y,PWWP3A:NM_001369791:exon6:c.C415T:p.H139Y",T,N,N,T,N,T
chr19,1360790,1360790,C,T,R007_S,PWWP3A,Silent,NM_001369792,exon4,c.C666T,p.A222A,SNP,SNVindel,exonic,PWWP3A,NA,synonymous SNV,"PWWP3A:NM_001369792:exon4:c.C666T:p.A222A,PWWP3A:NM_001369793:exon4:c.C501T:p.A167A,PWWP3A:NM_001369789:exon5:c.C870T:p.A290A,PWWP3A:NM_001369790:exon5:c.C870T:p.A290A,PWWP3A:NM_001369794:exon5:c.C870T:p.A290A,PWWP3A:NM_032853:exon5:c.C870T:p.A290A,PWWP3A:NM_001369791:exon6:c.C666T:p.A222A",NA,NA,NA,NA,NA,NA
chr19,1360927,1360927,C,T,R007_S,PWWP3A,Missense_Mutation,NM_001369792,exon4,c.C803T,p.S268F,SNP,SNVindel,exonic,PWWP3A,NA,nonsynonymous SNV,"PWWP3A:NM_001369792:exon4:c.C803T:p.S268F,PWWP3A:NM_001369793:exon4:c.C638T:p.S213F,PWWP3A:NM_001369789:exon5:c.C1007T:p.S336F,PWWP3A:NM_001369790:exon5:c.C1007T:p.S336F,PWWP3A:NM_001369794:exon5:c.C1007T:p.S336F,PWWP3A:NM_032853:exon5:c.C1007T:p.S336F,PWWP3A:NM_001369791:exon6:c.C803T:p.S268F",T,N,N,T,N,T
chr19,1458021,1458021,C,T,R007_S,APC2,Missense_Mutation,NM_001351273,exon9,c.C1262T,p.S421F,SNP,SNVindel,exonic,APC2,NA,nonsynonymous SNV,"APC2:NM_001351273:exon9:c.C1262T:p.S421F,APC2:NM_005883:exon10:c.C1265T:p.S422F",D,D,D,T,D,T
chr19,1461966,1461966,C,T,R007_S,APC2,Missense_Mutation,NM_001351273,exon13,c.C1640T,p.S547F,SNP,SNVindel,exonic,APC2,NA,nonsynonymous SNV,"APC2:NM_001351273:exon13:c.C1640T:p.S547F,APC2:NM_005883:exon14:c.C1643T:p.S548F",D,D,D,T,D,T
chr19,1466512,1466512,G,A,R007_S,APC2,Missense_Mutation,NM_001351273,exon14,c.G3209A,p.S1070N,SNP,SNVindel,exonic,APC2,NA,nonsynonymous SNV,"APC2:NM_001351273:exon14:c.G3209A:p.S1070N,APC2:NM_005883:exon15:c.G3212A:p.S1071N",D,D,D,D,D,D
chr19,1468536,1468536,G,A,R007_S,APC2,Missense_Mutation,NM_001351273,exon14,c.G5233A,p.G1745S,SNP,SNVindel,exonic,APC2,NA,nonsynonymous SNV,"APC2:NM_001351273:exon14:c.G5233A:p.G1745S,APC2:NM_005883:exon15:c.G5236A:p.G1746S",T,N,N,D,N,T
chr19,1487175,1487175,G,A,R007_S,PCSK4,Missense_Mutation,NM_017573,exon7,c.C820T,p.L274F,SNP,SNVindel,exonic,PCSK4,NA,nonsynonymous SNV,PCSK4:NM_017573:exon7:c.C820T:p.L274F,D,U,D,D,D,D
chr19,1496429,1496429,C,T,R007_S,REEP6,Missense_Mutation,NM_001329556,exon4,c.C494T,p.A165V,SNP,SNVindel,exonic,REEP6,NA,nonsynonymous SNV,"REEP6:NM_001329556:exon4:c.C494T:p.A165V,REEP6:NM_138393:exon4:c.C494T:p.A165V",T,.,N,T,N,T
chr19,1496627,1496627,C,T,R007_S,REEP6,Silent,NM_001329556,exon5,c.C555T,p.T185T,SNP,SNVindel,exonic,REEP6,NA,synonymous SNV,REEP6:NM_001329556:exon5:c.C555T:p.T185T,NA,NA,NA,NA,NA,NA
chr19,1556205,1556205,C,T,R007_S,MEX3D,Missense_Mutation,NM_001174118,exon2,c.G1313A,p.G438D,SNP,SNVindel,exonic,MEX3D,NA,nonsynonymous SNV,"MEX3D:NM_001174118:exon2:c.G1313A:p.G438D,MEX3D:NM_203304:exon2:c.G1313A:p.G438D",T,U,N,T,N,T
chr19,1584655,1584655,C,T,R007_S,MBD3,Missense_Mutation,NM_001281453,exon3,c.G292A,p.A98T,SNP,SNVindel,exonic,MBD3,NA,nonsynonymous SNV,"MBD3:NM_001281453:exon3:c.G292A:p.A98T,MBD3:NM_001281454:exon3:c.G196A:p.A66T",T,D,D,T,N,D
chr19,1788989,1788989,C,T,R007_S,ATP8B3,Silent,NM_001178002,exon24,c.G2865A,p.R955R,SNP,SNVindel,exonic,ATP8B3,NA,synonymous SNV,"ATP8B3:NM_001178002:exon24:c.G2865A:p.R955R,ATP8B3:NM_138813:exon24:c.G2976A:p.R992R",NA,NA,NA,NA,NA,NA
chr19,2121778,2121778,C,A,R007_S,AP3D1,Missense_Mutation,NM_001261826,exon12,c.G1056T,p.K352N,SNP,SNVindel,exonic,AP3D1,NA,nonsynonymous SNV,"AP3D1:NM_001261826:exon12:c.G1056T:p.K352N,AP3D1:NM_003938:exon12:c.G1056T:p.K352N",D,D,D,T,D,T
chr19,2211190,2211190,C,T,R007_S,DOT1L,Missense_Mutation,NM_032482,exon15,c.C1444T,p.P482S,SNP,SNVindel,exonic,DOT1L,NA,nonsynonymous SNV,DOT1L:NM_032482:exon15:c.C1444T:p.P482S,D,D,D,T,D,T
chr19,2216336,2216336,G,A,R007_S,DOT1L,Silent,NM_032482,exon20,c.G1980A,p.K660K,SNP,SNVindel,exonic,DOT1L,NA,synonymous SNV,DOT1L:NM_032482:exon20:c.G1980A:p.K660K,NA,NA,NA,NA,NA,NA
chr19,2220189,2220189,C,T,R007_S,DOT1L,Missense_Mutation,NM_032482,exon23,c.C2774T,p.A925V,SNP,SNVindel,exonic,DOT1L,NA,nonsynonymous SNV,DOT1L:NM_032482:exon23:c.C2774T:p.A925V,T,N,N,T,N,T
chr19,2223420,2223420,G,A,R007_S,DOT1L,Silent,NM_032482,exon25,c.G3531A,p.G1177G,SNP,SNVindel,exonic,DOT1L,NA,synonymous SNV,DOT1L:NM_032482:exon25:c.G3531A:p.G1177G,NA,NA,NA,NA,NA,NA
chr19,2251139,2251139,C,T,R007_S,AMH,Missense_Mutation,NM_000479,exon5,c.C866T,p.P289L,SNP,SNVindel,exonic,AMH,NA,nonsynonymous SNV,AMH:NM_000479:exon5:c.C866T:p.P289L,T,U,D,T,D,D
chr19,2278831,2278831,C,T,R007_S,PEAK3,Missense_Mutation,NM_198532,exon3,c.G364A,p.G122S,SNP,SNVindel,exonic,PEAK3,NA,nonsynonymous SNV,PEAK3:NM_198532:exon3:c.G364A:p.G122S,D,.,N,T,N,T
chr19,2422009,2422009,C,T,R007_S,TMPRSS9,Missense_Mutation,NM_182973,exon13,c.C2210T,p.S737F,SNP,SNVindel,exonic,TMPRSS9,NA,nonsynonymous SNV,TMPRSS9:NM_182973:exon13:c.C2210T:p.S737F,D,N,N,T,D,T
chr19,2757455,2757455,C,T,R007_S,SGTA,Silent,NM_003021,exon11,c.G828A,p.A276A,SNP,SNVindel,exonic,SGTA,NA,synonymous SNV,SGTA:NM_003021:exon11:c.G828A:p.A276A,NA,NA,NA,NA,NA,NA
chr19,2807576,2807576,G,A,R007_S,THOP1,Missense_Mutation,NM_003249,exon8,c.G1023A,p.M341I,SNP,SNVindel,exonic,THOP1,NA,nonsynonymous SNV,THOP1:NM_003249:exon8:c.G1023A:p.M341I,T,D,D,T,D,T
chr19,2991945,2991945,C,T,R007_S,TLE6,Missense_Mutation,NM_024760,exon13,c.C980T,p.T327I,SNP,SNVindel,exonic,TLE6,NA,nonsynonymous SNV,"TLE6:NM_024760:exon13:c.C980T:p.T327I,TLE6:NM_001143986:exon14:c.C1349T:p.T450I",T,.,N,T,N,T
chr19,2991962,2991962,G,A,R007_S,TLE6,Missense_Mutation,NM_024760,exon13,c.G997A,p.E333K,SNP,SNVindel,exonic,TLE6,NA,nonsynonymous SNV,"TLE6:NM_024760:exon13:c.G997A:p.E333K,TLE6:NM_001143986:exon14:c.G1366A:p.E456K",T,.,N,T,N,T
chr19,3179091,3179091,G,A,R007_S,S1PR4,Missense_Mutation,NM_003775,exon1,c.G301A,p.A101T,SNP,SNVindel,exonic,S1PR4,NA,nonsynonymous SNV,S1PR4:NM_003775:exon1:c.G301A:p.A101T,D,N,D,T,N,T
chr19,3534481,3534481,G,A,R007_S,FZR1,Nonsense_Mutation,NM_001136197,exon10,c.G1143A,p.W381X,SNP,SNVindel,exonic,FZR1,NA,stopgain,"FZR1:NM_001136197:exon10:c.G1143A:p.W381X,FZR1:NM_001136198:exon12:c.G1410A:p.W470X,FZR1:NM_016263:exon13:c.G1410A:p.W470X",.,D,D,.,.,.
chr19,3623981,3623981,G,A,R007_S,CACTIN,Missense_Mutation,NM_001080543,exon2,c.C347T,p.S116F,SNP,SNVindel,exonic,CACTIN,NA,nonsynonymous SNV,"CACTIN:NM_001080543:exon2:c.C347T:p.S116F,CACTIN:NM_021231:exon2:c.C347T:p.S116F",T,U,D,.,N,T
chr19,3642917,3642917,C,T,R007_S,PIP5K1C,Missense_Mutation,NM_001195733,exon14,c.G1670A,p.G557E,SNP,SNVindel,exonic,PIP5K1C,NA,nonsynonymous SNV,"PIP5K1C:NM_001195733:exon14:c.G1670A:p.G557E,PIP5K1C:NM_001300849:exon14:c.G1670A:p.G557E,PIP5K1C:NM_012398:exon14:c.G1670A:p.G557E",D,U,D,T,N,T
chr19,3738931,3738931,C,T,R007_S,TJP3,Missense_Mutation,NM_001267560,exon13,c.C1430T,p.S477F,SNP,SNVindel,exonic,TJP3,NA,nonsynonymous SNV,"TJP3:NM_001267560:exon13:c.C1430T:p.S477F,TJP3:NM_001267561:exon13:c.C1457T:p.S486F",D,D,D,T,D,T
chr19,3752925,3752925,C,T,R007_S,APBA3,Missense_Mutation,NM_004886,exon7,c.G1075A,p.E359K,SNP,SNVindel,exonic,APBA3,NA,nonsynonymous SNV,APBA3:NM_004886:exon7:c.G1075A:p.E359K,D,N,D,T,N,T
chr19,3759892,3759892,G,A,R007_S,APBA3,Missense_Mutation,NM_004886,exon2,c.C371T,p.S124F,SNP,SNVindel,exonic,APBA3,NA,nonsynonymous SNV,APBA3:NM_004886:exon2:c.C371T:p.S124F,T,N,N,T,N,T
chr19,3771713,3771713,C,T,R007_S,RAX2,Missense_Mutation,NM_001319074,exon2,c.G166A,p.A56T,SNP,SNVindel,exonic,RAX2,NA,nonsynonymous SNV,"RAX2:NM_001319074:exon2:c.G166A:p.A56T,RAX2:NM_032753:exon2:c.G28A:p.A10T",.,.,N,D,.,T
chr19,3959450,3959450,G,A,R007_S,DAPK3,Silent,NM_001348,exon9,c.C1014T,p.G338G,SNP,SNVindel,exonic,DAPK3,NA,synonymous SNV,DAPK3:NM_001348:exon9:c.C1014T:p.G338G,NA,NA,NA,NA,NA,NA
chr19,3964629,3964629,C,T,R007_S,DAPK3,Silent,NM_001348,exon3,c.G423A,p.K141K,SNP,SNVindel,exonic,DAPK3,NA,synonymous SNV,DAPK3:NM_001348:exon3:c.G423A:p.K141K,NA,NA,NA,NA,NA,NA
chr19,4055223,4055223,C,T,R007_S,ZBTB7A,Missense_Mutation,NM_001317990,exon2,c.G8A,p.G3D,SNP,SNVindel,exonic,ZBTB7A,NA,nonsynonymous SNV,"ZBTB7A:NM_001317990:exon2:c.G8A:p.G3D,ZBTB7A:NM_015898:exon2:c.G8A:p.G3D",.,U,D,T,N,T
chr19,4171688,4171688,C,T,R007_S,CREB3L3,Missense_Mutation,NM_001271997,exon9,c.C1001T,p.P334L,SNP,SNVindel,exonic,CREB3L3,NA,nonsynonymous SNV,"CREB3L3:NM_001271997:exon9:c.C1001T:p.P334L,CREB3L3:NM_001271995:exon10:c.C1105T:p.R369C,CREB3L3:NM_001271996:exon10:c.C1102T:p.R368C,CREB3L3:NM_032607:exon10:c.C1108T:p.R370C",D,N,D,D,D,D
chr19,4365519,4365519,C,T,R007_S,SH3GL1,Missense_Mutation,NM_003025,exon4,c.G291A,p.M97I,SNP,SNVindel,exonic,SH3GL1,NA,nonsynonymous SNV,SH3GL1:NM_003025:exon4:c.G291A:p.M97I,D,U,D,T,D,D
chr19,4445504,4445504,C,T,R007_S,UBXN6,Silent,NM_001171091,exon11,c.G1158A,p.K386K,SNP,SNVindel,exonic,UBXN6,NA,synonymous SNV,"UBXN6:NM_001171091:exon11:c.G1158A:p.K386K,UBXN6:NM_025241:exon11:c.G1317A:p.K439K",NA,NA,NA,NA,NA,NA
chr19,4550240,4550240,C,T,R007_S,SEMA6B,Missense_Mutation,NM_032108,exon12,c.G1166A,p.S389N,SNP,SNVindel,exonic,SEMA6B,NA,nonsynonymous SNV,SEMA6B:NM_032108:exon12:c.G1166A:p.S389N,.,U,N,T,.,T
chr19,4682925,4682925,C,T,R007_S,DPP9-AS1,Missense_Mutation,NM_001242901,exon2,c.C55T,p.P19S,SNP,SNVindel,exonic,DPP9-AS1,NA,nonsynonymous SNV,DPP9-AS1:NM_001242901:exon2:c.C55T:p.P19S,NA,NA,NA,NA,NA,NA
chr19,4702615,4702615,C,T,R007_S,DPP9,Missense_Mutation,NM_001365987,exon8,c.G883A,p.G295S,SNP,SNVindel,exonic,DPP9,NA,nonsynonymous SNV,"DPP9:NM_001365987:exon8:c.G883A:p.G295S,DPP9:NM_139159:exon8:c.G883A:p.G295S",T,D,D,T,N,T
chr19,4793129,4793129,G,A,R007_S,FEM1A,Silent,NM_018708,exon1,c.G1263A,p.Q421Q,SNP,SNVindel,exonic,FEM1A,NA,synonymous SNV,FEM1A:NM_018708:exon1:c.G1263A:p.Q421Q,NA,NA,NA,NA,NA,NA
chr19,4852275,4852275,C,T,R007_S,PLIN3,Silent,NM_001164189,exon5,c.G387A,p.V129V,SNP,SNVindel,exonic,PLIN3,NA,synonymous SNV,"PLIN3:NM_001164189:exon5:c.G387A:p.V129V,PLIN3:NM_001164194:exon5:c.G351A:p.V117V,PLIN3:NM_005817:exon5:c.G387A:p.V129V",NA,NA,NA,NA,NA,NA
chr19,5111522,5111522,C,T,R007_S,KDM4B,Silent,NM_001370093,exon11,c.C1252T,p.L418L,SNP,SNVindel,exonic,KDM4B,NA,synonymous SNV,KDM4B:NM_001370093:exon11:c.C1252T:p.L418L,NA,NA,NA,NA,NA,NA
chr19,5150388,5150388,C,T,R007_S,KDM4B,Missense_Mutation,NM_015015,exon22,c.C3041T,p.S1014F,SNP,SNVindel,exonic,KDM4B,NA,nonsynonymous SNV,KDM4B:NM_015015:exon22:c.C3041T:p.S1014F,D,N,D,T,D,T
chr19,5222870,5222870,G,A,R007_S,PTPRS,Missense_Mutation,NM_130854,exon14,c.C2867T,p.A956V,SNP,SNVindel,exonic,PTPRS,NA,nonsynonymous SNV,"PTPRS:NM_130854:exon14:c.C2867T:p.A956V,PTPRS:NM_002850:exon18:c.C2933T:p.A978V",T,U,D,T,N,T
chr19,5621382,5621382,G,A,R007_S,SAFB2,Missense_Mutation,NM_014649,exon2,c.C212T,p.P71L,SNP,SNVindel,exonic,SAFB2,NA,nonsynonymous SNV,SAFB2:NM_014649:exon2:c.C212T:p.P71L,D,D,D,T,D,T
chr19,5694519,5694519,C,T,R007_S,LONP1,Silent,NM_001276480,exon15,c.G1611A,p.E537E,SNP,SNVindel,exonic,LONP1,NA,synonymous SNV,"LONP1:NM_001276480:exon15:c.G1611A:p.E537E,LONP1:NM_004793:exon15:c.G2199A:p.E733E,LONP1:NM_001276479:exon16:c.G2007A:p.E669E",NA,NA,NA,NA,NA,NA
chr19,5783041,5783041,G,A,R007_S,PRR22,Missense_Mutation,NM_001134316,exon3,c.C1217T,p.A406V,SNP,SNVindel,exonic,PRR22,NA,nonsynonymous SNV,PRR22:NM_001134316:exon3:c.C1217T:p.A406V,T,.,N,T,N,T
chr19,5789492,5789492,C,T,R007_S,DUS3L,Missense_Mutation,NM_020175,exon3,c.G626A,p.G209D,SNP,SNVindel,exonic,DUS3L,NA,nonsynonymous SNV,DUS3L:NM_020175:exon3:c.G626A:p.G209D,T,D,D,T,N,T
chr19,5791142,5791142,C,T,R007_S,DUS3L,Missense_Mutation,NM_001161619,exon1,c.G11A,p.G4E,SNP,SNVindel,exonic,DUS3L,NA,nonsynonymous SNV,"DUS3L:NM_001161619:exon1:c.G11A:p.G4E,DUS3L:NM_020175:exon1:c.G11A:p.G4E",T,N,N,T,N,T
chr19,6222185,6222185,C,T,R007_S,MLLT1,Missense_Mutation,NM_005934,exon6,c.G1057A,p.A353T,SNP,SNVindel,exonic,MLLT1,NA,nonsynonymous SNV,MLLT1:NM_005934:exon6:c.G1057A:p.A353T,T,N,N,.,N,T
chr19,6222486,6222486,C,T,R007_S,MLLT1,Silent,NM_005934,exon6,c.G756A,p.K252K,SNP,SNVindel,exonic,MLLT1,NA,synonymous SNV,MLLT1:NM_005934:exon6:c.G756A:p.K252K,NA,NA,NA,NA,NA,NA
chr19,6270683,6270683,C,T,R007_S,MLLT1,Missense_Mutation,NM_005934,exon2,c.G100A,p.V34M,SNP,SNVindel,exonic,MLLT1,NA,nonsynonymous SNV,MLLT1:NM_005934:exon2:c.G100A:p.V34M,D,D,D,.,N,D
chr19,6374309,6374309,C,T,R007_S,ALKBH7,Silent,NM_032306,exon2,c.C300T,p.G100G,SNP,SNVindel,exonic,ALKBH7,NA,synonymous SNV,ALKBH7:NM_032306:exon2:c.C300T:p.G100G,NA,NA,NA,NA,NA,NA
chr19,6381784,6381784,C,T,R007_S,GTF2F1,Missense_Mutation,NM_002096,exon7,c.G760A,p.D254N,SNP,SNVindel,exonic,GTF2F1,NA,nonsynonymous SNV,GTF2F1:NM_002096:exon7:c.G760A:p.D254N,D,D,D,T,D,T
chr19,6389504,6389504,G,A,R007_S,GTF2F1,Missense_Mutation,NM_002096,exon4,c.C277T,p.P93S,SNP,SNVindel,exonic,GTF2F1,NA,nonsynonymous SNV,GTF2F1:NM_002096:exon4:c.C277T:p.P93S,T,N,N,T,D,T
chr19,6416659,6416659,C,T,R007_S,KHSRP,Missense_Mutation,NM_001366299,exon14,c.G1330A,p.G444S,SNP,SNVindel,exonic,KHSRP,NA,nonsynonymous SNV,"KHSRP:NM_001366299:exon14:c.G1330A:p.G444S,KHSRP:NM_001366300:exon14:c.G1330A:p.G444S,KHSRP:NM_003685:exon14:c.G1330A:p.G444S",D,D,D,D,D,D
chr19,6427150,6427150,G,A,R007_S,SLC25A41,Missense_Mutation,NM_173637,exon6,c.C904T,p.P302S,SNP,SNVindel,exonic,SLC25A41,NA,nonsynonymous SNV,"SLC25A41:NM_173637:exon6:c.C904T:p.P302S,SLC25A41:NM_001321298:exon7:c.C490T:p.P164S",D,.,D,D,D,D
chr19,6466680,6466680,C,T,R007_S,CRB3,Silent,NM_139161,exon4,c.C360T,p.I120I,SNP,SNVindel,exonic,CRB3,NA,synonymous SNV,"CRB3:NM_139161:exon4:c.C360T:p.I120I,CRB3:NM_174882:exon4:c.C360T:p.I120I",NA,NA,NA,NA,NA,NA
chr19,6495431,6495431,C,T,R007_S,TUBB4A,Missense_Mutation,NM_001289130,exon4,c.G863A,p.G288D,SNP,SNVindel,exonic,TUBB4A,NA,nonsynonymous SNV,"TUBB4A:NM_001289130:exon4:c.G863A:p.G288D,TUBB4A:NM_001289131:exon4:c.G863A:p.G288D,TUBB4A:NM_006087:exon4:c.G1079A:p.G360D,TUBB4A:NM_001289123:exon5:c.G1232A:p.G411D,TUBB4A:NM_001289127:exon5:c.G1214A:p.G405D,TUBB4A:NM_001289129:exon5:c.G1079A:p.G360D",.,U,D,D,D,D
chr19,6678168,6678168,C,T,R007_S,C3,Silent,NM_000064,exon40,c.G4845A,p.K1615K,SNP,SNVindel,exonic,C3,NA,synonymous SNV,C3:NM_000064:exon40:c.G4845A:p.K1615K,NA,NA,NA,NA,NA,NA
chr19,6693044,6693044,G,A,R007_S,C3,Missense_Mutation,NM_000064,exon26,c.C3281T,p.A1094V,SNP,SNVindel,exonic,C3,NA,nonsynonymous SNV,C3:NM_000064:exon26:c.C3281T:p.A1094V,T,N,N,T,N,T
chr19,6820769,6820769,C,T,R007_S,VAV1,Silent,NM_001258206,exon2,c.C261T,p.G87G,SNP,SNVindel,exonic,VAV1,NA,synonymous SNV,"VAV1:NM_001258206:exon2:c.C261T:p.G87G,VAV1:NM_001258207:exon2:c.C261T:p.G87G,VAV1:NM_005428:exon2:c.C261T:p.G87G",NA,NA,NA,NA,NA,NA
chr19,6836491,6836491,C,T,R007_S,VAV1,Missense_Mutation,NM_001258207,exon19,c.C1730T,p.P577L,SNP,SNVindel,exonic,VAV1,NA,nonsynonymous SNV,"VAV1:NM_001258207:exon19:c.C1730T:p.P577L,VAV1:NM_001258206:exon20:c.C1826T:p.P609L,VAV1:NM_005428:exon20:c.C1826T:p.P609L",D,D,D,T,D,D
chr19,7117249,7117249,C,T,R007_S,INSR,Missense_Mutation,NM_001079817,exon21,c.G3931A,p.D1311N,SNP,SNVindel,exonic,INSR,NA,nonsynonymous SNV,"INSR:NM_001079817:exon21:c.G3931A:p.D1311N,INSR:NM_000208:exon22:c.G3967A:p.D1323N",T,N,D,T,N,T
chr19,7516086,7516086,C,T,R007_S,ARHGEF18,Missense_Mutation,NM_001130955,exon6,c.C1063T,p.L355F,SNP,SNVindel,exonic,ARHGEF18,NA,nonsynonymous SNV,"ARHGEF18:NM_001130955:exon6:c.C1063T:p.L355F,ARHGEF18:NM_001367824:exon7:c.C751T:p.L251F,ARHGEF18:NM_015318:exon7:c.C751T:p.L251F,ARHGEF18:NM_001367823:exon16:c.C1789T:p.L597F",D,D,D,T,D,D
chr19,7532143,7532143,C,T,R007_S,ARHGEF18,Missense_Mutation,NM_001130955,exon16,c.C2327T,p.A776V,SNP,SNVindel,exonic,ARHGEF18,NA,nonsynonymous SNV,"ARHGEF18:NM_001130955:exon16:c.C2327T:p.A776V,ARHGEF18:NM_001367824:exon17:c.C2015T:p.A672V,ARHGEF18:NM_015318:exon17:c.C2015T:p.A672V,ARHGEF18:NM_001367823:exon26:c.C3053T:p.A1018V",T,N,D,T,N,T
chr19,7571043,7571043,G,A,R007_S,TEX45,Missense_Mutation,NM_198534,exon7,c.G1199A,p.G400D,SNP,SNVindel,exonic,TEX45,NA,nonsynonymous SNV,TEX45:NM_198534:exon7:c.G1199A:p.G400D,T,N,N,T,N,T
chr19,7584300,7584300,G,A,R007_S,ZNF358,Missense_Mutation,NM_018083,exon2,c.G172A,p.D58N,SNP,SNVindel,exonic,ZNF358,NA,nonsynonymous SNV,ZNF358:NM_018083:exon2:c.G172A:p.D58N,T,.,N,T,N,T
chr19,7615419,7615419,G,A,R007_S,PNPLA6,Missense_Mutation,NM_001166114,exon16,c.G1963A,p.D655N,SNP,SNVindel,exonic,PNPLA6,NA,nonsynonymous SNV,"PNPLA6:NM_001166114:exon16:c.G1963A:p.D655N,PNPLA6:NM_001166111:exon18:c.G1990A:p.D664N,PNPLA6:NM_001166112:exon18:c.G1768A:p.D590N,PNPLA6:NM_001166113:exon19:c.G1846A:p.D616N,PNPLA6:NM_006702:exon19:c.G1846A:p.D616N",D,D,D,T,D,T
chr19,7626098,7626098,G,A,R007_S,PNPLA6,Silent,NM_001166114,exon31,c.G3918A,p.E1306E,SNP,SNVindel,exonic,PNPLA6,NA,synonymous SNV,"PNPLA6:NM_001166114:exon31:c.G3918A:p.E1306E,PNPLA6:NM_001166111:exon33:c.G3948A:p.E1316E,PNPLA6:NM_001166112:exon33:c.G3723A:p.E1241E,PNPLA6:NM_001166113:exon34:c.G3804A:p.E1268E,PNPLA6:NM_006702:exon34:c.G3804A:p.E1268E",NA,NA,NA,NA,NA,NA
chr19,7687265,7687265,G,A,R007_S,XAB2,Silent,NM_020196,exon12,c.C1569T,p.N523N,SNP,SNVindel,exonic,XAB2,NA,synonymous SNV,XAB2:NM_020196:exon12:c.C1569T:p.N523N,NA,NA,NA,NA,NA,NA
chr19,7960614,7960614,C,T,R007_S,LRRC8E,Silent,NM_025061,exon2,c.C126T,p.G42G,SNP,SNVindel,exonic,LRRC8E,NA,synonymous SNV,"LRRC8E:NM_025061:exon2:c.C126T:p.G42G,LRRC8E:NM_001268284:exon3:c.C126T:p.G42G",NA,NA,NA,NA,NA,NA
chr19,7964988,7964988,C,T,R007_S,LRRC8E,Silent,NM_001268285,exon2,c.C1194T,p.T398T,SNP,SNVindel,exonic,LRRC8E,NA,synonymous SNV,"LRRC8E:NM_001268285:exon2:c.C1194T:p.T398T,LRRC8E:NM_025061:exon3:c.C1581T:p.T527T,LRRC8E:NM_001268284:exon4:c.C1581T:p.T527T",NA,NA,NA,NA,NA,NA
chr19,7965261,7965261,C,T,R007_S,LRRC8E,Silent,NM_001268285,exon2,c.C1467T,p.R489R,SNP,SNVindel,exonic,LRRC8E,NA,synonymous SNV,"LRRC8E:NM_001268285:exon2:c.C1467T:p.R489R,LRRC8E:NM_025061:exon3:c.C1854T:p.R618R,LRRC8E:NM_001268284:exon4:c.C1854T:p.R618R",NA,NA,NA,NA,NA,NA
chr19,7965412,7965412,C,T,R007_S,LRRC8E,Missense_Mutation,NM_001268285,exon2,c.C1618T,p.P540S,SNP,SNVindel,exonic,LRRC8E,NA,nonsynonymous SNV,"LRRC8E:NM_001268285:exon2:c.C1618T:p.P540S,LRRC8E:NM_025061:exon3:c.C2005T:p.P669S,LRRC8E:NM_001268284:exon4:c.C2005T:p.P669S",D,D,D,T,D,D
chr19,7975231,7975231,G,A,R007_S,MAP2K7,Silent,NM_001297556,exon4,c.G420A,p.R140R,SNP,SNVindel,exonic,MAP2K7,NA,synonymous SNV,"MAP2K7:NM_001297556:exon4:c.G420A:p.R140R,MAP2K7:NM_145185:exon4:c.G420A:p.R140R,MAP2K7:NM_001297555:exon5:c.G468A:p.R156R",NA,NA,NA,NA,NA,NA
chr19,8200965,8200965,C,T,R007_S,FBN3,Missense_Mutation,NM_001321431,exon13,c.G1471A,p.D491N,SNP,SNVindel,exonic,FBN3,NA,nonsynonymous SNV,"FBN3:NM_001321431:exon13:c.G1471A:p.D491N,FBN3:NM_032447:exon13:c.G1471A:p.D491N",T,U,D,D,D,D
chr19,8201175,8201175,C,T,R007_S,FBN3,Missense_Mutation,NM_001321431,exon12,c.G1364A,p.S455N,SNP,SNVindel,exonic,FBN3,NA,nonsynonymous SNV,"FBN3:NM_001321431:exon12:c.G1364A:p.S455N,FBN3:NM_032447:exon12:c.G1364A:p.S455N",T,U,N,D,N,T
chr19,8321571,8321571,C,T,R007_S,CERS4,Silent,NM_024552,exon8,c.C589T,p.L197L,SNP,SNVindel,exonic,CERS4,NA,synonymous SNV,CERS4:NM_024552:exon8:c.C589T:p.L197L,NA,NA,NA,NA,NA,NA
chr19,8398970,8398970,G,A,R007_S,KANK3,Silent,NM_198471,exon5,c.C1458T,p.S486S,SNP,SNVindel,exonic,KANK3,NA,synonymous SNV,KANK3:NM_198471:exon5:c.C1458T:p.S486S,NA,NA,NA,NA,NA,NA
chr19,8399637,8399637,C,T,R007_S,KANK3,Silent,NM_198471,exon3,c.G1074A,p.L358L,SNP,SNVindel,exonic,KANK3,NA,synonymous SNV,KANK3:NM_198471:exon3:c.G1074A:p.L358L,NA,NA,NA,NA,NA,NA
chr19,8604853,8604853,C,T,R007_S,MYO1F,Missense_Mutation,NM_001348355,exon16,c.G1658A,p.S553N,SNP,SNVindel,exonic,MYO1F,NA,nonsynonymous SNV,"MYO1F:NM_001348355:exon16:c.G1658A:p.S553N,MYO1F:NM_012335:exon16:c.G1670A:p.S557N",D,D,N,D,N,T
chr19,8670022,8670022,C,T,R007_S,ADAMTS10,Missense_Mutation,NM_030957,exon4,c.G310A,p.V104M,SNP,SNVindel,exonic,ADAMTS10,NA,nonsynonymous SNV,ADAMTS10:NM_030957:exon4:c.G310A:p.V104M,T,D,D,T,D,T
chr19,9000467,9000467,G,A,R007_S,MUC16,Missense_Mutation,NM_024690,exon54,c.C40517T,p.T13506I,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon54:c.C40517T:p.T13506I,T,.,N,T,N,T
chr19,9007498,9007498,G,A,R007_S,MUC16,Missense_Mutation,NM_024690,exon43,c.C39470T,p.P13157L,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon43:c.C39470T:p.P13157L,D,.,N,T,N,T
chr19,9009647,9009647,C,T,R007_S,MUC16,Missense_Mutation,NM_024690,exon39,c.G39079A,p.D13027N,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon39:c.G39079A:p.D13027N,D,.,N,T,N,T
chr19,9020112,9020112,G,A,R007_S,MUC16,Silent,NM_024690,exon21,c.C37383T,p.I12461I,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon21:c.C37383T:p.I12461I,NA,NA,NA,NA,NA,NA
chr19,9046044,9046044,G,A,R007_S,MUC16,Missense_Mutation,NM_024690,exon5,c.C35587T,p.P11863S,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon5:c.C35587T:p.P11863S,T,.,N,T,N,T
chr19,9048386,9048386,C,T,R007_S,MUC16,Missense_Mutation,NM_024690,exon5,c.G33245A,p.S11082N,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon5:c.G33245A:p.S11082N,T,.,N,T,N,T
chr19,9056647,9056647,G,A,R007_S,MUC16,Silent,NM_024690,exon3,c.C30799T,p.L10267L,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon3:c.C30799T:p.L10267L,NA,NA,NA,NA,NA,NA
chr19,9058115,9058115,C,T,R007_S,MUC16,Silent,NM_024690,exon3,c.G29331A,p.E9777E,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon3:c.G29331A:p.E9777E,NA,NA,NA,NA,NA,NA
chr19,9085383,9085383,G,A,R007_S,MUC16,Silent,NM_024690,exon1,c.C6432T,p.V2144V,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon1:c.C6432T:p.V2144V,NA,NA,NA,NA,NA,NA
chr19,9087835,9087835,G,A,R007_S,MUC16,Missense_Mutation,NM_024690,exon1,c.C3980T,p.T1327I,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.C3980T:p.T1327I,D,.,N,T,N,T
chr19,9088093,9088093,G,A,R007_S,MUC16,Missense_Mutation,NM_024690,exon1,c.C3722T,p.T1241I,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.C3722T:p.T1241I,D,.,N,T,N,T
chr19,9088955,9088955,C,T,R007_S,MUC16,Missense_Mutation,NM_024690,exon1,c.G2860A,p.D954N,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.G2860A:p.D954N,T,.,N,T,N,T
chr19,9089349,9089349,G,A,R007_S,MUC16,Silent,NM_024690,exon1,c.C2466T,p.H822H,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon1:c.C2466T:p.H822H,NA,NA,NA,NA,NA,NA
chr19,9089965,9089965,G,A,R007_S,MUC16,Missense_Mutation,NM_024690,exon1,c.C1850T,p.T617I,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.C1850T:p.T617I,D,.,N,T,N,T
chr19,9408566,9408566,C,T,R007_S,ZNF699,Silent,NM_198535,exon4,c.G276A,p.E92E,SNP,SNVindel,exonic,ZNF699,NA,synonymous SNV,ZNF699:NM_198535:exon4:c.G276A:p.E92E,NA,NA,NA,NA,NA,NA
chr19,9408619,9408619,C,T,R007_S,ZNF699,Missense_Mutation,NM_198535,exon4,c.G223A,p.E75K,SNP,SNVindel,exonic,ZNF699,NA,nonsynonymous SNV,ZNF699:NM_198535:exon4:c.G223A:p.E75K,T,.,N,T,N,T
chr19,9451818,9451818,G,A,R007_S,ZNF559,Silent,NM_001202406,exon5,c.G393A,p.Q131Q,SNP,SNVindel,exonic,ZNF559,NA,synonymous SNV,"ZNF559:NM_001202406:exon5:c.G393A:p.Q131Q,ZNF559:NM_001202407:exon5:c.G75A:p.Q25Q,ZNF559:NM_001202408:exon5:c.G393A:p.Q131Q,ZNF559:NM_001202409:exon6:c.G285A:p.Q95Q,ZNF559:NM_001202410:exon6:c.G201A:p.Q67Q,ZNF559:NM_001202411:exon6:c.G201A:p.Q67Q,ZNF559:NM_001202412:exon6:c.G201A:p.Q67Q,ZNF559:NM_032497:exon6:c.G201A:p.Q67Q",NA,NA,NA,NA,NA,NA
chr19,9491808,9491808,C,T,R007_S,ZNF177,Silent,NM_001172651,exon6,c.C801T,p.D267D,SNP,SNVindel,exonic,ZNF177,NA,synonymous SNV,ZNF177:NM_001172651:exon6:c.C801T:p.D267D,NA,NA,NA,NA,NA,NA
chr19,9577916,9577916,C,T,R007_S,ZNF560,Silent,NM_001351678,exon10,c.G1389A,p.E463E,SNP,SNVindel,exonic,ZNF560,NA,synonymous SNV,"ZNF560:NM_001351678:exon10:c.G1389A:p.E463E,ZNF560:NM_152476:exon10:c.G1707A:p.E569E",NA,NA,NA,NA,NA,NA
chr19,9580322,9580322,C,T,R007_S,ZNF560,Silent,NM_001351678,exon8,c.G195A,p.L65L,SNP,SNVindel,exonic,ZNF560,NA,synonymous SNV,"ZNF560:NM_001351678:exon8:c.G195A:p.L65L,ZNF560:NM_152476:exon8:c.G513A:p.L171L",NA,NA,NA,NA,NA,NA
chr19,9581068,9581068,C,T,R007_S,ZNF560,Missense_Mutation,NM_001351678,exon7,c.G130A,p.G44S,SNP,SNVindel,exonic,ZNF560,NA,nonsynonymous SNV,"ZNF560:NM_001351678:exon7:c.G130A:p.G44S,ZNF560:NM_152476:exon7:c.G448A:p.G150S",D,.,N,T,D,T
chr19,9639858,9639858,C,T,R007_S,ZNF426,Missense_Mutation,NM_001300883,exon6,c.G749A,p.G250D,SNP,SNVindel,exonic,ZNF426,NA,nonsynonymous SNV,"ZNF426:NM_001300883:exon6:c.G749A:p.G250D,ZNF426:NM_001318055:exon7:c.G530A:p.G177D,ZNF426:NM_024106:exon8:c.G863A:p.G288D",T,.,N,T,N,T
chr19,9922340,9922340,G,A,R007_S,FBXL12,Silent,NM_001316936,exon2,c.C114T,p.L38L,SNP,SNVindel,exonic,FBXL12,NA,synonymous SNV,"FBXL12:NM_001316936:exon2:c.C114T:p.L38L,FBXL12:NM_001316941:exon2:c.C54T:p.L18L,FBXL12:NM_001316937:exon3:c.C54T:p.L18L,FBXL12:NM_001316940:exon3:c.C54T:p.L18L,FBXL12:NM_017703:exon3:c.C213T:p.L71L,FBXL12:NM_001316938:exon4:c.C54T:p.L18L,FBXL12:NM_001316939:exon4:c.C54T:p.L18L,FBXL12:NM_001316942:exon4:c.C54T:p.L18L",.,.,D,.,.,.
chr19,9929293,9929293,C,T,R007_S,FBXL12,Silent,NM_017703,exon2,c.G87A,p.R29R,SNP,SNVindel,exonic,FBXL12,NA,synonymous SNV,FBXL12:NM_017703:exon2:c.G87A:p.R29R,.,.,D,T,.,.
chr19,9965308,9965308,C,T,R007_S,OLFM2,Missense_Mutation,NM_001304348,exon5,c.G685A,p.A229T,SNP,SNVindel,exonic,OLFM2,NA,nonsynonymous SNV,"OLFM2:NM_001304348:exon5:c.G685A:p.A229T,OLFM2:NM_001304347:exon6:c.G991A:p.A331T,OLFM2:NM_058164:exon6:c.G919A:p.A307T",D,D,D,D,D,D
chr19,10091788,10091788,G,A,R007_S,COL5A3,Silent,NM_015719,exon33,c.C2481T,p.G827G,SNP,SNVindel,exonic,COL5A3,NA,synonymous SNV,COL5A3:NM_015719:exon33:c.C2481T:p.G827G,NA,NA,NA,NA,NA,NA
chr19,10108800,10108800,C,T,R007_S,COL5A3,Missense_Mutation,NM_015719,exon9,c.G1136A,p.G379E,SNP,SNVindel,exonic,COL5A3,NA,nonsynonymous SNV,COL5A3:NM_015719:exon9:c.G1136A:p.G379E,D,D,D,D,D,D
chr19,10112498,10112498,C,T,R007_S,COL5A3,Silent,NM_015719,exon7,c.G909A,p.T303T,SNP,SNVindel,exonic,COL5A3,NA,synonymous SNV,COL5A3:NM_015719:exon7:c.G909A:p.T303T,NA,NA,NA,NA,NA,NA
chr19,10116658,10116658,C,T,R007_S,COL5A3,Missense_Mutation,NM_015719,exon3,c.G251A,p.G84D,SNP,SNVindel,exonic,COL5A3,NA,nonsynonymous SNV,COL5A3:NM_015719:exon3:c.G251A:p.G84D,D,U,N,T,D,T
chr19,10197108,10197108,C,T,R007_S,SHFL,Missense_Mutation,NM_001308277,exon1,c.C5T,p.S2F,SNP,SNVindel,exonic,SHFL,NA,nonsynonymous SNV,"SHFL:NM_001308277:exon1:c.C5T:p.S2F,SHFL:NM_018381:exon1:c.C5T:p.S2F",D,.,N,.,N,T
chr19,10381880,10381880,C,T,R007_S,ICAM1,Silent,NM_000201,exon1,c.C45T,p.V15V,SNP,SNVindel,exonic,ICAM1,NA,synonymous SNV,ICAM1:NM_000201:exon1:c.C45T:p.V15V,NA,NA,NA,NA,NA,NA
chr19,10418892,10418892,C,T,R007_S,ZGLP1,Missense_Mutation,NM_001103167,exon1,c.G466A,p.D156N,SNP,SNVindel,exonic,ZGLP1,NA,nonsynonymous SNV,ZGLP1:NM_001103167:exon1:c.G466A:p.D156N,T,.,N,D,N,D
chr19,10473057,10473057,C,T,R007_S,TYK2,Missense_Mutation,NM_003331,exon11,c.G1552A,p.G518S,SNP,SNVindel,exonic,TYK2,NA,nonsynonymous SNV,TYK2:NM_003331:exon11:c.G1552A:p.G518S,D,N,D,T,D,T
chr19,10479014,10479014,C,A,R007_S,TYK2,Nonsense_Mutation,NM_003331,exon4,c.G274T,p.E92X,SNP,SNVindel,exonic,TYK2,NA,stopgain,TYK2:NM_003331:exon4:c.G274T:p.E92X,D,.,A,T,N,T
chr19,10506837,10506837,C,T,R007_S,CDC37,Missense_Mutation,NM_007065,exon2,c.G145A,p.E49K,SNP,SNVindel,exonic,CDC37,NA,nonsynonymous SNV,CDC37:NM_007065:exon2:c.G145A:p.E49K,T,D,D,T,D,T
chr19,10506869,10506869,T,A,R007_S,CDC37,Missense_Mutation,NM_007065,exon2,c.A113T,p.E38V,SNP,SNVindel,exonic,CDC37,NA,nonsynonymous SNV,CDC37:NM_007065:exon2:c.A113T:p.E38V,D,D,D,T,D,T
chr19,10557016,10557016,A,G,R007_S,PDE4A,Missense_Mutation,NM_001111307,exon2,c.A443G,p.Y148C,SNP,SNVindel,exonic,PDE4A,NA,nonsynonymous SNV,"PDE4A:NM_001111307:exon2:c.A443G:p.Y148C,PDE4A:NM_001111308:exon2:c.A365G:p.Y122C,PDE4A:NM_001111309:exon2:c.A260G:p.Y87C,PDE4A:NM_001243121:exon4:c.A377G:p.Y126C",D,D,D,T,D,D
chr19,10559772,10559772,G,A,R007_S,PDE4A,Missense_Mutation,NM_001111307,exon4,c.G566A,p.R189Q,SNP,SNVindel,exonic,PDE4A,NA,nonsynonymous SNV,"PDE4A:NM_001111307:exon4:c.G566A:p.R189Q,PDE4A:NM_001111308:exon4:c.G488A:p.R163Q,PDE4A:NM_001111309:exon4:c.G383A:p.R128Q,PDE4A:NM_001243121:exon6:c.G500A:p.R167Q",T,N,D,T,D,D
chr19,10679205,10679205,C,T,R007_S,CDKN2D,Missense_Mutation,NM_001800,exon1,c.G125A,p.G42D,SNP,SNVindel,exonic,CDKN2D,NA,nonsynonymous SNV,"CDKN2D:NM_001800:exon1:c.G125A:p.G42D,CDKN2D:NM_079421:exon2:c.G125A:p.G42D",D,U,D,T,D,T
chr19,10747349,10747349,G,A,R007_S,SLC44A2,Missense_Mutation,NM_001145056,exon16,c.G1502A,p.G501D,SNP,SNVindel,exonic,SLC44A2,NA,nonsynonymous SNV,"SLC44A2:NM_001145056:exon16:c.G1502A:p.G501D,SLC44A2:NM_001363611:exon16:c.G1508A:p.G503D,SLC44A2:NM_020428:exon16:c.G1508A:p.G503D",D,D,D,D,D,D
chr19,11332792,11332792,C,T,R007_S,DOCK6,Missense_Mutation,NM_020812,exon27,c.G3373A,p.A1125T,SNP,SNVindel,exonic,DOCK6,NA,nonsynonymous SNV,"DOCK6:NM_020812:exon27:c.G3373A:p.A1125T,DOCK6:NM_001367830:exon28:c.G3478A:p.A1160T",T,N,D,T,N,T
chr19,11486557,11486557,G,A,R007_S,SWSAP1,Silent,NM_175871,exon2,c.G555A,p.E185E,SNP,SNVindel,exonic,SWSAP1,NA,synonymous SNV,SWSAP1:NM_175871:exon2:c.G555A:p.E185E,NA,NA,NA,NA,NA,NA
chr19,11489225,11489225,G,A,R007_S,EPOR,Missense_Mutation,NM_000121,exon8,c.C962T,p.T321I,SNP,SNVindel,exonic,EPOR,NA,nonsynonymous SNV,EPOR:NM_000121:exon8:c.C962T:p.T321I,T,N,N,T,N,T
chr19,11598242,11598242,G,A,R007_S,ZNF653,Missense_Mutation,NM_138783,exon4,c.C1036T,p.P346S,SNP,SNVindel,exonic,ZNF653,NA,nonsynonymous SNV,ZNF653:NM_138783:exon4:c.C1036T:p.P346S,D,N,N,T,N,T
chr19,11979207,11979207,G,A,R007_S,ZNF439,Silent,NM_001348724,exon3,c.G915A,p.K305K,SNP,SNVindel,exonic,ZNF439,NA,synonymous SNV,"ZNF439:NM_001348724:exon3:c.G915A:p.K305K,ZNF439:NM_001348725:exon3:c.G915A:p.K305K,ZNF439:NM_152262:exon3:c.G1323A:p.K441K,ZNF439:NM_001348718:exon4:c.G1347A:p.K449K,ZNF439:NM_001348719:exon4:c.G1338A:p.K446K,ZNF439:NM_001348721:exon4:c.G1284A:p.K428K,ZNF439:NM_001348722:exon4:c.G1182A:p.K394K,ZNF439:NM_001348720:exon5:c.G1284A:p.K428K,ZNF439:NM_001348723:exon5:c.G1182A:p.K394K",NA,NA,NA,NA,NA,NA
chr19,12297600,12297600,G,A,R007_S,ZNF136,Missense_Mutation,NM_001348013,exon3,c.G209A,p.G70E,SNP,SNVindel,exonic,ZNF136,NA,nonsynonymous SNV,"ZNF136:NM_001348013:exon3:c.G209A:p.G70E,ZNF136:NM_003437:exon4:c.G407A:p.G136E,ZNF136:NM_001348014:exon5:c.G311A:p.G104E",T,.,N,T,D,T
chr19,12639129,12639129,C,T,R007_S,ZNF564,Silent,NM_144976,exon3,c.G180A,p.G60G,SNP,SNVindel,exonic,ZNF564,NA,synonymous SNV,ZNF564:NM_144976:exon3:c.G180A:p.G60G,NA,NA,NA,NA,NA,NA
chr19,12757496,12757496,G,A,R007_S,MAN2B1,Silent,NM_000528,exon24,c.C2974T,p.L992L,SNP,SNVindel,exonic,MAN2B1,NA,synonymous SNV,"MAN2B1:NM_000528:exon24:c.C2974T:p.L992L,MAN2B1:NM_001173498:exon24:c.C2971T:p.L991L",NA,NA,NA,NA,NA,NA
chr19,12936708,12936708,C,T,R007_S,RTBDN,Missense_Mutation,NM_001080997,exon6,c.G502A,p.G168S,SNP,SNVindel,exonic,RTBDN,NA,nonsynonymous SNV,"RTBDN:NM_001080997:exon6:c.G502A:p.G168S,RTBDN:NM_001270441:exon6:c.G502A:p.G168S,RTBDN:NM_001270442:exon6:c.G520A:p.G174S,RTBDN:NM_001270443:exon6:c.G502A:p.G168S,RTBDN:NM_001270444:exon6:c.G502A:p.G168S,RTBDN:NM_001270445:exon6:c.G484A:p.G162S,RTBDN:NM_031429:exon7:c.G598A:p.G200S",D,D,D,T,D,D
chr19,12958809,12958809,G,A,R007_S,MAST1,Missense_Mutation,NM_014975,exon7,c.G712A,p.G238S,SNP,SNVindel,exonic,MAST1,NA,nonsynonymous SNV,MAST1:NM_014975:exon7:c.G712A:p.G238S,D,D,D,T,D,T
chr19,12978619,12978619,C,T,R007_S,MAST1,Silent,NM_014975,exon20,c.C2394T,p.F798F,SNP,SNVindel,exonic,MAST1,NA,synonymous SNV,MAST1:NM_014975:exon20:c.C2394T:p.F798F,NA,NA,NA,NA,NA,NA
chr19,12981686,12981686,G,A,R007_S,MAST1,Missense_Mutation,NM_014975,exon23,c.G3052A,p.D1018N,SNP,SNVindel,exonic,MAST1,NA,nonsynonymous SNV,MAST1:NM_014975:exon23:c.G3052A:p.D1018N,D,D,D,T,D,D
chr19,12989321,12989321,G,A,R007_S,DNASE2,Missense_Mutation,NM_001375,exon5,c.C584T,p.P195L,SNP,SNVindel,exonic,DNASE2,NA,nonsynonymous SNV,DNASE2:NM_001375:exon5:c.C584T:p.P195L,D,D,D,T,D,T
chr19,13030059,13030059,C,T,R007_S,SYCE2,Missense_Mutation,NM_001105578,exon1,c.G13A,p.G5R,SNP,SNVindel,exonic,SYCE2,NA,nonsynonymous SNV,SYCE2:NM_001105578:exon1:c.G13A:p.G5R,T,U,N,.,N,T
chr19,13041117,13041117,C,T,R007_S,FARSA,Silent,NM_004461,exon4,c.G423A,p.Q141Q,SNP,SNVindel,exonic,FARSA,NA,synonymous SNV,FARSA:NM_004461:exon4:c.G423A:p.Q141Q,NA,NA,NA,NA,NA,NA
chr19,13221118,13221118,G,A,R007_S,TRMT1,Silent,NM_001142554,exon7,c.C873T,p.A291A,SNP,SNVindel,exonic,TRMT1,NA,synonymous SNV,"TRMT1:NM_001142554:exon7:c.C873T:p.A291A,TRMT1:NM_001351762:exon7:c.C90T:p.A30A,TRMT1:NM_017722:exon7:c.C873T:p.A291A,TRMT1:NM_001136035:exon8:c.C873T:p.A291A,TRMT1:NM_001351760:exon8:c.C873T:p.A291A,TRMT1:NM_001351761:exon8:c.C765T:p.A255A",NA,NA,NA,NA,NA,NA
chr19,13318352,13318352,C,T,R007_S,CACNA1A,Silent,NM_001127222,exon47,c.G7296A,p.G2432G,SNP,SNVindel,exonic,CACNA1A,NA,synonymous SNV,CACNA1A:NM_001127222:exon47:c.G7296A:p.G2432G,NA,NA,NA,NA,NA,NA
chr19,13410020,13410020,C,T,R007_S,CACNA1A,Silent,NM_001127221,exon19,c.G2430A,p.R810R,SNP,SNVindel,exonic,CACNA1A,NA,synonymous SNV,"CACNA1A:NM_001127221:exon19:c.G2430A:p.R810R,CACNA1A:NM_001127222:exon19:c.G2427A:p.R809R",NA,NA,NA,NA,NA,NA
chr19,13616819,13616819,C,T,R007_S,CACNA1A,Missense_Mutation,NM_001127221,exon1,c.G220A,p.V74I,SNP,SNVindel,exonic,CACNA1A,NA,nonsynonymous SNV,"CACNA1A:NM_001127221:exon1:c.G220A:p.V74I,CACNA1A:NM_001127222:exon1:c.G220A:p.V74I",D,U,D,T,N,T
chr19,13915880,13915880,C,T,R007_S,ZSWIM4,Silent,NM_001367834,exon3,c.C630T,p.A210A,SNP,SNVindel,exonic,ZSWIM4,NA,synonymous SNV,"ZSWIM4:NM_001367834:exon3:c.C630T:p.A210A,ZSWIM4:NM_023072:exon3:c.C630T:p.A210A",NA,NA,NA,NA,NA,NA
chr19,14000750,14000750,C,T,R007_S,C19orf57,Missense_Mutation,NM_001345846,exon5,c.G565A,p.G189S,SNP,SNVindel,exonic,C19orf57,NA,nonsynonymous SNV,"C19orf57:NM_001345846:exon5:c.G565A:p.G189S,C19orf57:NM_001345847:exon5:c.G565A:p.G189S,C19orf57:NM_001345843:exon6:c.G1336A:p.G446S,C19orf57:NM_001345844:exon6:c.G1336A:p.G446S,C19orf57:NM_024323:exon6:c.G919A:p.G307S",D,N,D,T,D,T
chr19,14043635,14043635,G,A,R007_S,PODNL1,Silent,NM_001146255,exon6,c.C1149T,p.T383T,SNP,SNVindel,exonic,PODNL1,NA,synonymous SNV,"PODNL1:NM_001146255:exon6:c.C1149T:p.T383T,PODNL1:NM_001146254:exon8:c.C1416T:p.T472T,PODNL1:NM_001370095:exon8:c.C1422T:p.T474T,PODNL1:NM_024825:exon8:c.C1401T:p.T467T",NA,NA,NA,NA,NA,NA
chr19,14066779,14066779,C,T,R007_S,DCAF15,Missense_Mutation,NM_138353,exon4,c.C422T,p.T141I,SNP,SNVindel,exonic,DCAF15,NA,nonsynonymous SNV,DCAF15:NM_138353:exon4:c.C422T:p.T141I,T,D,D,.,N,T
chr19,14076550,14076550,C,T,R007_S,RFX1,Silent,NM_002918,exon15,c.G2001A,p.L667L,SNP,SNVindel,exonic,RFX1,NA,synonymous SNV,RFX1:NM_002918:exon15:c.G2001A:p.L667L,NA,NA,NA,NA,NA,NA
chr19,14164496,14164496,G,A,R007_S,PALM3,Missense_Mutation,NM_001367327,exon5,c.C1790T,p.P597L,SNP,SNVindel,exonic,PALM3,NA,nonsynonymous SNV,"PALM3:NM_001367327:exon5:c.C1790T:p.P597L,PALM3:NM_001145028:exon7:c.C1988T:p.P663L",T,.,N,T,D,T
chr19,14165528,14165528,G,A,R007_S,PALM3,Missense_Mutation,NM_001367327,exon5,c.C758T,p.P253L,SNP,SNVindel,exonic,PALM3,NA,nonsynonymous SNV,"PALM3:NM_001367327:exon5:c.C758T:p.P253L,PALM3:NM_001145028:exon7:c.C956T:p.P319L",T,N,N,T,N,T
chr19,14581597,14581597,C,T,R007_S,PKN1,Silent,NM_002741,exon21,c.C2559T,p.N853N,SNP,SNVindel,exonic,PKN1,NA,synonymous SNV,"PKN1:NM_002741:exon21:c.C2559T:p.N853N,PKN1:NM_213560:exon21:c.C2577T:p.N859N",NA,NA,NA,NA,NA,NA
chr19,14992090,14992090,G,A,R007_S,OR7A17,Silent,NM_030901,exon1,c.C78T,p.F26F,SNP,SNVindel,exonic,OR7A17,NA,synonymous SNV,OR7A17:NM_030901:exon1:c.C78T:p.F26F,NA,NA,NA,NA,NA,NA
chr19,15198676,15198676,C,T,R007_S,OR1I1,Missense_Mutation,NM_001004713,exon1,c.C800T,p.S267F,SNP,SNVindel,exonic,OR1I1,NA,nonsynonymous SNV,OR1I1:NM_001004713:exon1:c.C800T:p.S267F,D,U,N,T,D,T
chr19,15220614,15220614,G,A,R007_S,SYDE1,Missense_Mutation,NM_001300910,exon3,c.G329A,p.R110Q,SNP,SNVindel,exonic,SYDE1,NA,nonsynonymous SNV,"SYDE1:NM_001300910:exon3:c.G329A:p.R110Q,SYDE1:NM_033025:exon3:c.G530A:p.R177Q",D,D,D,T,N,T
chr19,15235840,15235840,C,T,R007_S,ILVBL,Missense_Mutation,NM_006844,exon2,c.G31A,p.G11R,SNP,SNVindel,exonic,ILVBL,NA,nonsynonymous SNV,ILVBL:NM_006844:exon2:c.G31A:p.G11R,T,N,N,T,N,T
chr19,15296442,15296442,C,T,R007_S,NOTCH3,Missense_Mutation,NM_000435,exon13,c.G2000A,p.G667D,SNP,SNVindel,exonic,NOTCH3,NA,nonsynonymous SNV,NOTCH3:NM_000435:exon13:c.G2000A:p.G667D,T,N,D,D,N,T
chr19,15300158,15300158,C,T,R007_S,NOTCH3,Missense_Mutation,NM_000435,exon7,c.G1118A,p.G373D,SNP,SNVindel,exonic,NOTCH3,NA,nonsynonymous SNV,NOTCH3:NM_000435:exon7:c.G1118A:p.G373D,D,.,D,D,D,D
chr19,15375277,15375277,C,T,R007_S,BRD4,Missense_Mutation,NM_001330384,exon6,c.G1150A,p.A384T,SNP,SNVindel,exonic,BRD4,NA,nonsynonymous SNV,"BRD4:NM_001330384:exon6:c.G1150A:p.A384T,BRD4:NM_014299:exon6:c.G1150A:p.A384T,BRD4:NM_058243:exon6:c.G1150A:p.A384T",T,D,D,T,D,T
chr19,15514831,15514831,C,T,R007_S,AKAP8L,Silent,NM_001291478,exon3,c.G111A,p.G37G,SNP,SNVindel,exonic,AKAP8L,NA,synonymous SNV,"AKAP8L:NM_001291478:exon3:c.G111A:p.G37G,AKAP8L:NM_014371:exon3:c.G111A:p.G37G",NA,NA,NA,NA,NA,NA
chr19,15839581,15839581,C,T,R007_S,OR10H2,Missense_Mutation,NM_013939,exon1,c.C728T,p.A243V,SNP,SNVindel,exonic,OR10H2,NA,nonsynonymous SNV,OR10H2:NM_013939:exon1:c.C728T:p.A243V,T,D,N,T,D,T
chr19,16620792,16620792,G,A,R007_S,C19orf44,Nonsense_Mutation,NM_001288834,exon5,c.G1632A,p.W544X,SNP,SNVindel,exonic,C19orf44,NA,stopgain,"C19orf44:NM_001288834:exon5:c.G1632A:p.W544X,C19orf44:NM_032207:exon5:c.G1632A:p.W544X",.,D,A,.,.,.
chr19,16687346,16687346,C,T,R007_S,MED26,Missense_Mutation,NM_004831,exon3,c.G1295A,p.R432K,SNP,SNVindel,exonic,MED26,NA,nonsynonymous SNV,MED26:NM_004831:exon3:c.G1295A:p.R432K,T,D,D,T,N,T
chr19,16687507,16687507,C,T,R007_S,MED26,Silent,NM_004831,exon3,c.G1134A,p.K378K,SNP,SNVindel,exonic,MED26,NA,synonymous SNV,MED26:NM_004831:exon3:c.G1134A:p.K378K,NA,NA,NA,NA,NA,NA
chr19,16688295,16688295,C,T,R007_S,MED26,Missense_Mutation,NM_004831,exon3,c.G346A,p.G116R,SNP,SNVindel,exonic,MED26,NA,nonsynonymous SNV,MED26:NM_004831:exon3:c.G346A:p.G116R,T,N,N,.,N,T
chr19,16689179,16689179,C,T,R007_S,MED26,Silent,NM_004831,exon2,c.G114A,p.L38L,SNP,SNVindel,exonic,MED26,NA,synonymous SNV,MED26:NM_004831:exon2:c.G114A:p.L38L,.,.,D,.,.,.
chr19,17000594,17000594,C,T,R007_S,F2RL3,Missense_Mutation,NM_003950,exon2,c.C320T,p.P107L,SNP,SNVindel,exonic,F2RL3,NA,nonsynonymous SNV,F2RL3:NM_003950:exon2:c.C320T:p.P107L,T,U,N,T,D,T
chr19,17008593,17008593,G,A,R007_S,CPAMD8,Silent,NM_015692,exon39,c.C4974T,p.F1658F,SNP,SNVindel,exonic,CPAMD8,NA,synonymous SNV,CPAMD8:NM_015692:exon39:c.C4974T:p.F1658F,NA,NA,NA,NA,NA,NA
chr19,17017801,17017801,C,T,R007_S,CPAMD8,Missense_Mutation,NM_015692,exon30,c.G3988A,p.E1330K,SNP,SNVindel,exonic,CPAMD8,NA,nonsynonymous SNV,CPAMD8:NM_015692:exon30:c.G3988A:p.E1330K,.,U,N,T,.,T
chr19,17160962,17160962,G,A,R007_S,HAUS8,Silent,NM_001011699,exon11,c.C951T,p.L317L,SNP,SNVindel,exonic,HAUS8,NA,synonymous SNV,"HAUS8:NM_001011699:exon11:c.C951T:p.L317L,HAUS8:NM_033417:exon11:c.C954T:p.L318L",NA,NA,NA,NA,NA,NA
chr19,17173527,17173527,G,A,R007_S,HAUS8,Silent,NM_001011699,exon4,c.C210T,p.S70S,SNP,SNVindel,exonic,HAUS8,NA,synonymous SNV,"HAUS8:NM_001011699:exon4:c.C210T:p.S70S,HAUS8:NM_033417:exon4:c.C210T:p.S70S",NA,NA,NA,NA,NA,NA
chr19,17213355,17213355,C,T,R007_S,MYO9B,Silent,NM_001130065,exon2,c.C828T,p.G276G,SNP,SNVindel,exonic,MYO9B,NA,synonymous SNV,"MYO9B:NM_001130065:exon2:c.C828T:p.G276G,MYO9B:NM_004145:exon2:c.C828T:p.G276G",NA,NA,NA,NA,NA,NA
chr19,17283195,17283195,C,T,R007_S,MYO9B,Missense_Mutation,NM_001130065,exon12,c.C1843T,p.H615Y,SNP,SNVindel,exonic,MYO9B,NA,nonsynonymous SNV,"MYO9B:NM_001130065:exon12:c.C1843T:p.H615Y,MYO9B:NM_004145:exon12:c.C1843T:p.H615Y",D,D,D,T,D,D
chr19,17366225,17366225,C,T,R007_S,USHBP1,Missense_Mutation,NM_001297703,exon9,c.G1469A,p.G490D,SNP,SNVindel,exonic,USHBP1,NA,nonsynonymous SNV,"USHBP1:NM_001297703:exon9:c.G1469A:p.G490D,USHBP1:NM_001321417:exon10:c.G1661A:p.G554D,USHBP1:NM_031941:exon10:c.G1661A:p.G554D",T,N,N,T,N,T
chr19,17366229,17366229,C,T,R007_S,USHBP1,Missense_Mutation,NM_001297703,exon9,c.G1465A,p.G489S,SNP,SNVindel,exonic,USHBP1,NA,nonsynonymous SNV,"USHBP1:NM_001297703:exon9:c.G1465A:p.G489S,USHBP1:NM_001321417:exon10:c.G1657A:p.G553S,USHBP1:NM_031941:exon10:c.G1657A:p.G553S",T,N,N,T,N,T
chr19,17394638,17394638,C,T,R007_S,ANKLE1,Silent,NM_001278443,exon5,c.C1032T,p.H344H,SNP,SNVindel,exonic,ANKLE1,NA,synonymous SNV,"ANKLE1:NM_001278443:exon5:c.C1032T:p.H344H,ANKLE1:NM_001278444:exon5:c.C1065T:p.H355H,ANKLE1:NM_001278445:exon5:c.C1023T:p.H341H,ANKLE1:NM_152363:exon5:c.C1065T:p.H355H",NA,NA,NA,NA,NA,NA
chr19,17411943,17411943,G,A,R007_S,ABHD8,Silent,NM_024527,exon2,c.C483T,p.D161D,SNP,SNVindel,exonic,ABHD8,NA,synonymous SNV,ABHD8:NM_024527:exon2:c.C483T:p.D161D,NA,NA,NA,NA,NA,NA
chr19,17534844,17534844,C,T,R007_S,MVB12A,Missense_Mutation,NM_138401,exon7,c.C670T,p.P224S,SNP,SNVindel,exonic,MVB12A,NA,nonsynonymous SNV,"MVB12A:NM_138401:exon7:c.C670T:p.P224S,MVB12A:NM_001304547:exon8:c.C394T:p.P132S",D,D,D,T,D,T
chr19,17566669,17566669,C,T,R007_S,NXNL1,Silent,NM_138454,exon2,c.G426A,p.Q142Q,SNP,SNVindel,exonic,NXNL1,NA,synonymous SNV,NXNL1:NM_138454:exon2:c.G426A:p.Q142Q,NA,NA,NA,NA,NA,NA
chr19,17571487,17571487,C,T,R007_S,NXNL1,Silent,NM_138454,exon1,c.G192A,p.E64E,SNP,SNVindel,exonic,NXNL1,NA,synonymous SNV,NXNL1:NM_138454:exon1:c.G192A:p.E64E,NA,NA,NA,NA,NA,NA
chr19,17722641,17722641,C,T,R007_S,UNC13A,Missense_Mutation,NM_001080421,exon40,c.G4582A,p.G1528S,SNP,SNVindel,exonic,UNC13A,NA,nonsynonymous SNV,UNC13A:NM_001080421:exon40:c.G4582A:p.G1528S,D,U,D,D,D,D
chr19,17737533,17737533,C,T,R007_S,UNC13A,Missense_Mutation,NM_001080421,exon33,c.G3982A,p.G1328S,SNP,SNVindel,exonic,UNC13A,NA,nonsynonymous SNV,UNC13A:NM_001080421:exon33:c.G3982A:p.G1328S,T,U,D,T,D,T
chr19,17837085,17837085,C,T,R007_S,MAP1S,Missense_Mutation,NM_001308363,exon5,c.C814T,p.L272F,SNP,SNVindel,exonic,MAP1S,NA,nonsynonymous SNV,"MAP1S:NM_001308363:exon5:c.C814T:p.L272F,MAP1S:NM_018174:exon5:c.C892T:p.L298F",D,N,D,T,D,T
chr19,17838093,17838093,C,T,R007_S,MAP1S,Missense_Mutation,NM_001308363,exon5,c.C1822T,p.P608S,SNP,SNVindel,exonic,MAP1S,NA,nonsynonymous SNV,"MAP1S:NM_001308363:exon5:c.C1822T:p.P608S,MAP1S:NM_018174:exon5:c.C1900T:p.P634S",T,N,N,T,N,T
chr19,17838541,17838541,C,T,R007_S,MAP1S,Missense_Mutation,NM_001308363,exon5,c.C2270T,p.P757L,SNP,SNVindel,exonic,MAP1S,NA,nonsynonymous SNV,"MAP1S:NM_001308363:exon5:c.C2270T:p.P757L,MAP1S:NM_018174:exon5:c.C2348T:p.P783L",T,D,N,T,D,T
chr19,17838825,17838825,G,A,R007_S,MAP1S,Missense_Mutation,NM_001308363,exon5,c.G2554A,p.A852T,SNP,SNVindel,exonic,MAP1S,NA,nonsynonymous SNV,"MAP1S:NM_001308363:exon5:c.G2554A:p.A852T,MAP1S:NM_018174:exon5:c.G2632A:p.A878T",D,N,N,T,N,T
chr19,17886290,17886290,G,A,R007_S,FCHO1,Missense_Mutation,NM_001161359,exon13,c.G821A,p.G274D,SNP,SNVindel,exonic,FCHO1,NA,nonsynonymous SNV,"FCHO1:NM_001161359:exon13:c.G821A:p.G274D,FCHO1:NM_001161358:exon14:c.G971A:p.G324D,FCHO1:NM_001161357:exon15:c.G971A:p.G324D,FCHO1:NM_015122:exon15:c.G971A:p.G324D",D,D,D,T,D,T
chr19,17937581,17937581,C,T,R007_S,JAK3,Missense_Mutation,NM_000215,exon24,c.G3346A,p.G1116S,SNP,SNVindel,exonic,JAK3,NA,nonsynonymous SNV,JAK3:NM_000215:exon24:c.G3346A:p.G1116S,D,.,N,T,N,T
chr19,17942090,17942090,C,T,R007_S,JAK3,Silent,NM_000215,exon21,c.G2925A,p.P975P,SNP,SNVindel,exonic,JAK3,NA,synonymous SNV,JAK3:NM_000215:exon21:c.G2925A:p.P975P,NA,NA,NA,NA,NA,NA
chr19,17985350,17985350,C,T,R007_S,SLC5A5,Silent,NM_000453,exon3,c.C471T,p.N157N,SNP,SNVindel,exonic,SLC5A5,NA,synonymous SNV,SLC5A5:NM_000453:exon3:c.C471T:p.N157N,NA,NA,NA,NA,NA,NA
chr19,17986832,17986832,C,T,R007_S,SLC5A5,Silent,NM_000453,exon5,c.C615T,p.V205V,SNP,SNVindel,exonic,SLC5A5,NA,synonymous SNV,SLC5A5:NM_000453:exon5:c.C615T:p.V205V,NA,NA,NA,NA,NA,NA
chr19,18234456,18234456,G,A,R007_S,MAST3,Silent,NM_015016,exon7,c.G537A,p.R179R,SNP,SNVindel,exonic,MAST3,NA,synonymous SNV,MAST3:NM_015016:exon7:c.G537A:p.R179R,NA,NA,NA,NA,NA,NA
chr19,18235574,18235574,C,T,R007_S,MAST3,Silent,NM_015016,exon10,c.C981T,p.D327D,SNP,SNVindel,exonic,MAST3,NA,synonymous SNV,MAST3:NM_015016:exon10:c.C981T:p.D327D,NA,NA,NA,NA,NA,NA
chr19,18255933,18255933,C,T,R007_S,MAST3,Missense_Mutation,NM_015016,exon23,c.C2846T,p.P949L,SNP,SNVindel,exonic,MAST3,NA,nonsynonymous SNV,MAST3:NM_015016:exon23:c.C2846T:p.P949L,D,D,D,T,D,T
chr19,18256591,18256591,G,A,R007_S,MAST3,Silent,NM_015016,exon24,c.G2991A,p.L997L,SNP,SNVindel,exonic,MAST3,NA,synonymous SNV,MAST3:NM_015016:exon24:c.G2991A:p.L997L,NA,NA,NA,NA,NA,NA
chr19,18368292,18368292,C,T,R007_S,IQCN,Missense_Mutation,NM_001145304,exon4,c.G3802A,p.V1268M,SNP,SNVindel,exonic,IQCN,NA,nonsynonymous SNV,"IQCN:NM_001145304:exon4:c.G3802A:p.V1268M,IQCN:NM_001145305:exon4:c.G3103A:p.V1035M,IQCN:NM_025249:exon4:c.G3241A:p.V1081M",D,N,N,T,N,T
chr19,18368784,18368784,C,T,R007_S,IQCN,Missense_Mutation,NM_001145304,exon4,c.G3310A,p.V1104M,SNP,SNVindel,exonic,IQCN,NA,nonsynonymous SNV,"IQCN:NM_001145304:exon4:c.G3310A:p.V1104M,IQCN:NM_001145305:exon4:c.G2611A:p.V871M,IQCN:NM_025249:exon4:c.G2749A:p.V917M",T,N,N,T,N,T
chr19,18392148,18392148,C,T,R007_S,JUND,Silent,NM_001286968,exon1,c.G18A,p.A6A,SNP,SNVindel,exonic,JUND,NA,synonymous SNV,"JUND:NM_001286968:exon1:c.G18A:p.A6A,JUND:NM_005354:exon1:c.G147A:p.A49A",NA,NA,NA,NA,NA,NA
chr19,18561776,18561776,G,A,R007_S,ELL,Nonsense_Mutation,NM_006532,exon8,c.C976T,p.Q326X,SNP,SNVindel,exonic,ELL,NA,stopgain,ELL:NM_006532:exon8:c.C976T:p.Q326X,.,N,A,.,.,.
chr19,18709378,18709378,G,A,R007_S,CRLF1,Silent,NM_004750,exon4,c.C561T,p.Y187Y,SNP,SNVindel,exonic,CRLF1,NA,synonymous SNV,CRLF1:NM_004750:exon4:c.C561T:p.Y187Y,NA,NA,NA,NA,NA,NA
chr19,18885789,18885789,C,T,R007_S,CRTC1,Missense_Mutation,NM_015321,exon12,c.C1505T,p.S502F,SNP,SNVindel,exonic,CRTC1,NA,nonsynonymous SNV,"CRTC1:NM_015321:exon12:c.C1505T:p.S502F,CRTC1:NM_001098482:exon13:c.C1553T:p.S518F",D,U,D,T,D,T
chr19,18897391,18897391,C,T,R007_S,COMP,Missense_Mutation,NM_000095,exon11,c.G1205A,p.G402D,SNP,SNVindel,exonic,COMP,NA,nonsynonymous SNV,COMP:NM_000095:exon11:c.G1205A:p.G402D,D,U,D,D,D,D
chr19,18965769,18965769,G,A,R007_S,UPF1,Silent,NM_001297549,exon10,c.G1380A,p.E460E,SNP,SNVindel,exonic,UPF1,NA,synonymous SNV,"UPF1:NM_001297549:exon10:c.G1380A:p.E460E,UPF1:NM_002911:exon10:c.G1347A:p.E449E",NA,NA,NA,NA,NA,NA
chr19,18967013,18967013,G,A,R007_S,UPF1,Silent,NM_001297549,exon13,c.G1761A,p.K587K,SNP,SNVindel,exonic,UPF1,NA,synonymous SNV,"UPF1:NM_001297549:exon13:c.G1761A:p.K587K,UPF1:NM_002911:exon13:c.G1728A:p.K576K",NA,NA,NA,NA,NA,NA
chr19,19105989,19105989,C,T,R007_S,SUGP2,Missense_Mutation,NM_001017392,exon9,c.G3092A,p.G1031D,SNP,SNVindel,exonic,SUGP2,NA,nonsynonymous SNV,"SUGP2:NM_001017392:exon9:c.G3092A:p.G1031D,SUGP2:NM_001321697:exon9:c.G3092A:p.G1031D,SUGP2:NM_001321698:exon9:c.G3134A:p.G1045D,SUGP2:NM_001321699:exon9:c.G3134A:p.G1045D,SUGP2:NM_001352071:exon9:c.G3092A:p.G1031D,SUGP2:NM_014884:exon9:c.G3092A:p.G1031D",D,D,D,D,D,D
chr19,19136797,19136797,G,A,R007_S,SUGP2,Silent,NM_001017392,exon3,c.C360T,p.D120D,SNP,SNVindel,exonic,SUGP2,NA,synonymous SNV,"SUGP2:NM_001017392:exon3:c.C360T:p.D120D,SUGP2:NM_001321697:exon3:c.C360T:p.D120D,SUGP2:NM_001321698:exon3:c.C402T:p.D134D,SUGP2:NM_001321699:exon3:c.C402T:p.D134D,SUGP2:NM_001352071:exon3:c.C360T:p.D120D,SUGP2:NM_014884:exon3:c.C360T:p.D120D",NA,NA,NA,NA,NA,NA
chr19,19240992,19240992,C,T,R007_S,TMEM161A,Missense_Mutation,NM_017814,exon6,c.G568A,p.E190K,SNP,SNVindel,exonic,TMEM161A,NA,nonsynonymous SNV,TMEM161A:NM_017814:exon6:c.G568A:p.E190K,D,N,D,.,N,T
chr19,19313191,19313191,C,T,R007_S,NR2C2AP,Silent,NM_001300945,exon4,c.G252A,p.Q84Q,SNP,SNVindel,exonic,NR2C2AP,NA,synonymous SNV,"NR2C2AP:NM_001300945:exon4:c.G252A:p.Q84Q,NR2C2AP:NM_176880:exon4:c.G252A:p.Q84Q",D,.,N,.,N,T
chr19,19416731,19416731,C,T,R007_S,SUGP1,Silent,NM_172231,exon4,c.G465A,p.A155A,SNP,SNVindel,exonic,SUGP1,NA,synonymous SNV,SUGP1:NM_172231:exon4:c.G465A:p.A155A,NA,NA,NA,NA,NA,NA
chr19,19431698,19431698,G,A,R007_S,MAU2,Silent,NM_015329,exon1,c.G30A,p.Q10Q,SNP,SNVindel,exonic,MAU2,NA,synonymous SNV,MAU2:NM_015329:exon1:c.G30A:p.Q10Q,NA,NA,NA,NA,NA,NA
chr19,19737832,19737832,G,A,R007_S,LPAR2,Missense_Mutation,NM_004720,exon2,c.C262T,p.L88F,SNP,SNVindel,exonic,LPAR2,NA,nonsynonymous SNV,LPAR2:NM_004720:exon2:c.C262T:p.L88F,T,D,D,T,N,D
chr19,19744681,19744681,G,A,R007_S,GMIP,Silent,NM_001288998,exon18,c.C2316T,p.A772A,SNP,SNVindel,exonic,GMIP,NA,synonymous SNV,"GMIP:NM_001288998:exon18:c.C2316T:p.A772A,GMIP:NM_001288999:exon18:c.C2325T:p.A775A,GMIP:NM_016573:exon19:c.C2403T:p.A801A",NA,NA,NA,NA,NA,NA
chr19,19744917,19744917,C,T,R007_S,GMIP,Missense_Mutation,NM_001288998,exon18,c.G2080A,p.D694N,SNP,SNVindel,exonic,GMIP,NA,nonsynonymous SNV,"GMIP:NM_001288998:exon18:c.G2080A:p.D694N,GMIP:NM_001288999:exon18:c.G2089A:p.D697N,GMIP:NM_016573:exon19:c.G2167A:p.D723N",T,N,N,T,N,T
chr19,19749073,19749073,C,T,R007_S,GMIP,Silent,NM_001288998,exon9,c.G684A,p.R228R,SNP,SNVindel,exonic,GMIP,NA,synonymous SNV,"GMIP:NM_001288998:exon9:c.G684A:p.R228R,GMIP:NM_001288999:exon9:c.G684A:p.R228R,GMIP:NM_016573:exon9:c.G684A:p.R228R",NA,NA,NA,NA,NA,NA
chr19,19757985,19757985,G,A,R007_S,ATP13A1,Nonsense_Mutation,NM_020410,exon22,c.C3058T,p.Q1020X,SNP,SNVindel,exonic,ATP13A1,NA,stopgain,ATP13A1:NM_020410:exon22:c.C3058T:p.Q1020X,.,D,A,.,.,.
chr19,21240167,21240167,C,T,R007_S,ZNF430,Silent,NM_001172671,exon5,c.C1050T,p.G350G,SNP,SNVindel,exonic,ZNF430,NA,synonymous SNV,"ZNF430:NM_001172671:exon5:c.C1050T:p.G350G,ZNF430:NM_025189:exon5:c.C1053T:p.G351G",NA,NA,NA,NA,NA,NA
chr19,22586215,22586215,C,T,R007_S,ZNF98,Missense_Mutation,NM_001098626,exon2,c.G130A,p.E44K,SNP,SNVindel,exonic,ZNF98,NA,nonsynonymous SNV,ZNF98:NM_001098626:exon2:c.G130A:p.E44K,D,.,N,T,D,T
chr19,30101531,30101531,G,A,R007_S,POP4,Silent,NM_006627,exon3,c.G276A,p.E92E,SNP,SNVindel,exonic,POP4,NA,synonymous SNV,POP4:NM_006627:exon3:c.G276A:p.E92E,NA,NA,NA,NA,NA,NA
chr19,30935685,30935685,C,T,R007_S,ZNF536,Missense_Mutation,NM_001352260,exon2,c.C1216T,p.P406S,SNP,SNVindel,exonic,ZNF536,NA,nonsynonymous SNV,"ZNF536:NM_001352260:exon2:c.C1216T:p.P406S,ZNF536:NM_014717:exon2:c.C1216T:p.P406S",D,D,D,T,N,T
chr19,31038850,31038850,G,A,R007_S,ZNF536,Missense_Mutation,NM_001352260,exon4,c.G2324A,p.G775D,SNP,SNVindel,exonic,ZNF536,NA,nonsynonymous SNV,"ZNF536:NM_001352260:exon4:c.G2324A:p.G775D,ZNF536:NM_014717:exon4:c.G2324A:p.G775D",D,D,D,T,D,T
chr19,31769062,31769062,C,T,R007_S,TSHZ3,Missense_Mutation,NM_020856,exon2,c.G1637A,p.G546D,SNP,SNVindel,exonic,TSHZ3,NA,nonsynonymous SNV,TSHZ3:NM_020856:exon2:c.G1637A:p.G546D,D,D,D,T,D,T
chr19,31769553,31769553,C,T,R007_S,TSHZ3,Silent,NM_020856,exon2,c.G1146A,p.K382K,SNP,SNVindel,exonic,TSHZ3,NA,synonymous SNV,TSHZ3:NM_020856:exon2:c.G1146A:p.K382K,NA,NA,NA,NA,NA,NA
chr19,31769917,31769917,G,A,R007_S,TSHZ3,Missense_Mutation,NM_020856,exon2,c.C782T,p.S261F,SNP,SNVindel,exonic,TSHZ3,NA,nonsynonymous SNV,TSHZ3:NM_020856:exon2:c.C782T:p.S261F,D,D,D,T,D,T
chr19,33116864,33116864,C,T,R007_S,ANKRD27,Silent,NM_032139,exon17,c.G1545A,p.L515L,SNP,SNVindel,exonic,ANKRD27,NA,synonymous SNV,ANKRD27:NM_032139:exon17:c.G1545A:p.L515L,NA,NA,NA,NA,NA,NA
chr19,33167684,33167684,G,A,R007_S,RGS9BP,Missense_Mutation,NM_207391,exon1,c.G515A,p.R172H,SNP,SNVindel,exonic,RGS9BP,NA,nonsynonymous SNV,RGS9BP:NM_207391:exon1:c.G515A:p.R172H,T,N,D,T,N,T
chr19,33333156,33333156,G,A,R007_S,SLC7A9,Missense_Mutation,NM_001126335,exon11,c.C1142T,p.A381V,SNP,SNVindel,exonic,SLC7A9,NA,nonsynonymous SNV,"SLC7A9:NM_001126335:exon11:c.C1142T:p.A381V,SLC7A9:NM_001243036:exon11:c.C1142T:p.A381V,SLC7A9:NM_014270:exon11:c.C1142T:p.A381V",T,D,D,D,N,T
chr19,33417859,33417859,C,T,R007_S,CEP89,Missense_Mutation,NM_032816,exon10,c.G1061A,p.G354D,SNP,SNVindel,exonic,CEP89,NA,nonsynonymous SNV,CEP89:NM_032816:exon10:c.G1061A:p.G354D,D,D,D,T,D,T
chr19,33698246,33698246,G,A,R007_S,LRP3,Missense_Mutation,NM_002333,exon7,c.G2078A,p.C693Y,SNP,SNVindel,exonic,LRP3,NA,nonsynonymous SNV,LRP3:NM_002333:exon7:c.G2078A:p.C693Y,T,N,N,D,N,T
chr19,33792455,33792455,C,T,R007_S,CEBPA,Missense_Mutation,NM_001285829,exon1,c.G509A,p.R170H,SNP,SNVindel,exonic,CEBPA,NA,nonsynonymous SNV,"CEBPA:NM_001285829:exon1:c.G509A:p.R170H,CEBPA:NM_001287424:exon1:c.G971A:p.R324H,CEBPA:NM_001287435:exon1:c.G824A:p.R275H,CEBPA:NM_004364:exon1:c.G866A:p.R289H",D,.,D,T,D,D
chr19,33892672,33892672,C,T,R007_S,PEPD,Missense_Mutation,NM_001166056,exon10,c.G799A,p.A267T,SNP,SNVindel,exonic,PEPD,NA,nonsynonymous SNV,"PEPD:NM_001166056:exon10:c.G799A:p.A267T,PEPD:NM_001166057:exon10:c.G730A:p.A244T,PEPD:NM_000285:exon12:c.G922A:p.A308T",D,D,D,T,D,D
chr19,34263448,34263448,C,T,R007_S,CHST8,Missense_Mutation,NM_001127896,exon4,c.C755T,p.T252I,SNP,SNVindel,exonic,CHST8,NA,nonsynonymous SNV,"CHST8:NM_001127896:exon4:c.C755T:p.T252I,CHST8:NM_022467:exon4:c.C755T:p.T252I,CHST8:NM_001127895:exon5:c.C755T:p.T252I",T,D,D,T,D,T
chr19,34302317,34302317,G,A,R007_S,KCTD15,Missense_Mutation,NM_001129994,exon6,c.G553A,p.G185S,SNP,SNVindel,exonic,KCTD15,NA,nonsynonymous SNV,"KCTD15:NM_001129994:exon6:c.G553A:p.G185S,KCTD15:NM_001129995:exon6:c.G553A:p.G185S,KCTD15:NM_024076:exon6:c.G553A:p.G185S",D,D,D,T,D,D
chr19,34857294,34857294,C,T,R007_S,GPI,Missense_Mutation,NM_000175,exon2,c.C167T,p.S56F,SNP,SNVindel,exonic,GPI,NA,nonsynonymous SNV,"GPI:NM_000175:exon2:c.C167T:p.S56F,GPI:NM_001289790:exon2:c.C167T:p.S56F,GPI:NM_001329911:exon2:c.C167T:p.S56F,GPI:NM_001184722:exon3:c.C284T:p.S95F,GPI:NM_001289789:exon3:c.C284T:p.S95F,GPI:NM_001329909:exon3:c.C167T:p.S56F,GPI:NM_001329910:exon3:c.C167T:p.S56F",D,D,D,D,D,D
chr19,35251115,35251115,G,A,R007_S,ZNF599,Silent,NM_001007248,exon4,c.C591T,p.N197N,SNP,SNVindel,exonic,ZNF599,NA,synonymous SNV,ZNF599:NM_001007248:exon4:c.C591T:p.N197N,NA,NA,NA,NA,NA,NA
chr19,35434332,35434332,G,A,R007_S,ZNF30,Silent,NM_001099437,exon5,c.G465A,p.G155G,SNP,SNVindel,exonic,ZNF30,NA,synonymous SNV,"ZNF30:NM_001099437:exon5:c.G465A:p.G155G,ZNF30:NM_001099438:exon5:c.G465A:p.G155G,ZNF30:NM_194325:exon5:c.G462A:p.G154G",NA,NA,NA,NA,NA,NA
chr19,35449981,35449981,C,T,R007_S,ZNF792,Missense_Mutation,NM_175872,exon4,c.G778A,p.G260R,SNP,SNVindel,exonic,ZNF792,NA,nonsynonymous SNV,ZNF792:NM_175872:exon4:c.G778A:p.G260R,T,.,N,T,D,T
chr19,35719054,35719054,G,A,R007_S,FAM187B,Missense_Mutation,NM_152481,exon1,c.C530T,p.P177L,SNP,SNVindel,exonic,FAM187B,NA,nonsynonymous SNV,FAM187B:NM_152481:exon1:c.C530T:p.P177L,D,D,D,T,D,T
chr19,35741252,35741252,C,T,R007_S,LSR,Silent,NM_001260489,exon2,c.C288T,p.N96N,SNP,SNVindel,exonic,LSR,NA,synonymous SNV,"LSR:NM_001260489:exon2:c.C288T:p.N96N,LSR:NM_001260490:exon2:c.C288T:p.N96N,LSR:NM_015925:exon2:c.C288T:p.N96N,LSR:NM_205834:exon2:c.C288T:p.N96N,LSR:NM_205835:exon2:c.C288T:p.N96N",.,.,D,.,.,.
chr19,35762011,35762011,C,T,R007_S,USF2,Nonsense_Mutation,NM_001321150,exon5,c.C301T,p.R101X,SNP,SNVindel,exonic,USF2,NA,stopgain,"USF2:NM_001321150:exon5:c.C301T:p.R101X,USF2:NM_207291:exon6:c.C493T:p.R165X,USF2:NM_003367:exon7:c.C694T:p.R232X",.,D,A,.,.,.
chr19,35829149,35829149,C,T,R007_S,CD22,Missense_Mutation,NM_001278417,exon5,c.C548T,p.S183L,SNP,SNVindel,exonic,CD22,NA,nonsynonymous SNV,"CD22:NM_001278417:exon5:c.C548T:p.S183L,CD22:NM_001185100:exon6:c.C1064T:p.S355L,CD22:NM_001771:exon6:c.C1064T:p.S355L",D,D,D,T,D,T
chr19,35829305,35829305,G,A,R007_S,CD22,Missense_Mutation,NM_001278417,exon5,c.G704A,p.R235K,SNP,SNVindel,exonic,CD22,NA,nonsynonymous SNV,"CD22:NM_001278417:exon5:c.G704A:p.R235K,CD22:NM_001185100:exon6:c.G1220A:p.R407K,CD22:NM_001771:exon6:c.G1220A:p.R407K",T,N,N,T,N,T
chr19,35940620,35940620,C,T,R007_S,FFAR2,Silent,NM_001370087,exon2,c.C4T,p.L2L,SNP,SNVindel,exonic,FFAR2,NA,synonymous SNV,"FFAR2:NM_001370087:exon2:c.C4T:p.L2L,FFAR2:NM_005306:exon3:c.C4T:p.L2L",NA,NA,NA,NA,NA,NA
chr19,36004266,36004266,C,T,R007_S,DMKN,Missense_Mutation,NM_001126056,exon1,c.G112A,p.A38T,SNP,SNVindel,exonic,DMKN,NA,nonsynonymous SNV,"DMKN:NM_001126056:exon1:c.G112A:p.A38T,DMKN:NM_001126057:exon1:c.G112A:p.A38T,DMKN:NM_001126058:exon1:c.G112A:p.A38T,DMKN:NM_001190347:exon1:c.G112A:p.A38T,DMKN:NM_001190348:exon1:c.G112A:p.A38T,DMKN:NM_001190349:exon1:c.G112A:p.A38T,DMKN:NM_033317:exon1:c.G112A:p.A38T",D,.,N,T,N,T
chr19,36014424,36014424,G,A,R007_S,SBSN,Silent,NM_001166034,exon4,c.C1761T,p.N587N,SNP,SNVindel,exonic,SBSN,NA,synonymous SNV,"SBSN:NM_001166034:exon4:c.C1761T:p.N587N,SBSN:NM_001166035:exon4:c.C498T:p.N166N,SBSN:NM_198538:exon5:c.C732T:p.N244N",NA,NA,NA,NA,NA,NA
chr19,36046486,36046486,G,A,R007_S,ATP4A,Silent,NM_000704,exon14,c.C2013T,p.A671A,SNP,SNVindel,exonic,ATP4A,NA,synonymous SNV,ATP4A:NM_000704:exon14:c.C2013T:p.A671A,NA,NA,NA,NA,NA,NA
chr19,36106201,36106201,C,T,R007_S,HAUS5,Missense_Mutation,NM_015302,exon6,c.C398T,p.A133V,SNP,SNVindel,exonic,HAUS5,NA,nonsynonymous SNV,HAUS5:NM_015302:exon6:c.C398T:p.A133V,T,D,N,T,N,T
chr19,36221675,36221675,G,A,R007_S,KMT2B,Missense_Mutation,NM_014727,exon26,c.G5344A,p.E1782K,SNP,SNVindel,exonic,KMT2B,NA,nonsynonymous SNV,KMT2B:NM_014727:exon26:c.G5344A:p.E1782K,D,D,D,T,D,D
chr19,36224732,36224732,C,T,R007_S,KMT2B,Missense_Mutation,NM_014727,exon30,c.C7118T,p.P2373L,SNP,SNVindel,exonic,KMT2B,NA,nonsynonymous SNV,KMT2B:NM_014727:exon30:c.C7118T:p.P2373L,D,N,D,D,N,T
chr19,36230941,36230941,C,T,R007_S,IGFLR1,Missense_Mutation,NM_024660,exon4,c.G391A,p.G131S,SNP,SNVindel,exonic,IGFLR1,NA,nonsynonymous SNV,IGFLR1:NM_024660:exon4:c.G391A:p.G131S,T,N,N,D,N,T
chr19,36231933,36231933,G,A,R007_S,IGFLR1,Missense_Mutation,NM_001346003,exon2,c.C149T,p.P50L,SNP,SNVindel,exonic,IGFLR1,NA,nonsynonymous SNV,"IGFLR1:NM_001346003:exon2:c.C149T:p.P50L,IGFLR1:NM_001346004:exon2:c.C149T:p.P50L,IGFLR1:NM_001346005:exon2:c.C149T:p.P50L,IGFLR1:NM_001346006:exon2:c.C149T:p.P50L,IGFLR1:NM_024660:exon2:c.C149T:p.P50L",T,N,N,D,D,T
chr19,36237624,36237624,C,T,R007_S,PSENEN,Missense_Mutation,NM_001281532,exon4,c.C182T,p.A61V,SNP,SNVindel,exonic,PSENEN,NA,nonsynonymous SNV,"PSENEN:NM_001281532:exon4:c.C182T:p.A61V,PSENEN:NM_172341:exon4:c.C182T:p.A61V",T,D,D,T,N,T
chr19,36271180,36271180,C,T,R007_S,ARHGAP33,Missense_Mutation,NM_001172630,exon6,c.C161T,p.A54V,SNP,SNVindel,exonic,ARHGAP33,NA,nonsynonymous SNV,"ARHGAP33:NM_001172630:exon6:c.C161T:p.A54V,ARHGAP33:NM_001366178:exon7:c.C569T:p.A190V,ARHGAP33:NM_052948:exon7:c.C569T:p.A190V",D,D,D,T,D,T
chr19,36278285,36278285,G,A,R007_S,ARHGAP33,Missense_Mutation,NM_001172630,exon20,c.G2410A,p.G804S,SNP,SNVindel,exonic,ARHGAP33,NA,nonsynonymous SNV,"ARHGAP33:NM_001172630:exon20:c.G2410A:p.G804S,ARHGAP33:NM_001366178:exon21:c.G2818A:p.G940S,ARHGAP33:NM_052948:exon21:c.G2335A:p.G779S",D,N,D,T,N,T
chr19,36335261,36335261,C,T,R007_S,NPHS1,Silent,NM_004646,exon15,c.G2031A,p.E677E,SNP,SNVindel,exonic,NPHS1,NA,synonymous SNV,NPHS1:NM_004646:exon15:c.G2031A:p.E677E,NA,NA,NA,NA,NA,NA
chr19,36336994,36336994,G,A,R007_S,NPHS1,Silent,NM_004646,exon12,c.C1543T,p.L515L,SNP,SNVindel,exonic,NPHS1,NA,synonymous SNV,NPHS1:NM_004646:exon12:c.C1543T:p.L515L,NA,NA,NA,NA,NA,NA
chr19,36367471,36367471,T,C,R007_S,APLP1,Missense_Mutation,NM_001024807,exon11,c.T1397C,p.L466P,SNP,SNVindel,exonic,APLP1,NA,nonsynonymous SNV,"APLP1:NM_001024807:exon11:c.T1397C:p.L466P,APLP1:NM_005166:exon11:c.T1397C:p.L466P",D,N,D,T,D,T
chr19,36370037,36370037,G,A,R007_S,APLP1,Missense_Mutation,NM_001024807,exon16,c.G1775A,p.G592D,SNP,SNVindel,exonic,APLP1,NA,nonsynonymous SNV,"APLP1:NM_001024807:exon16:c.G1775A:p.G592D,APLP1:NM_005166:exon16:c.G1772A:p.G591D",D,N,D,D,N,D
chr19,36884524,36884524,C,T,R007_S,ZFP82,Missense_Mutation,NM_001321917,exon5,c.G721A,p.D241N,SNP,SNVindel,exonic,ZFP82,NA,nonsynonymous SNV,"ZFP82:NM_001321917:exon5:c.G721A:p.D241N,ZFP82:NM_133466:exon5:c.G718A:p.D240N",T,N,N,T,N,T
chr19,37117892,37117892,G,A,R007_S,ZNF382,Missense_Mutation,NM_001256838,exon5,c.G1090A,p.A364T,SNP,SNVindel,exonic,ZNF382,NA,nonsynonymous SNV,"ZNF382:NM_001256838:exon5:c.G1090A:p.A364T,ZNF382:NM_032825:exon5:c.G1093A:p.A365T",T,D,N,T,N,T
chr19,37853454,37853454,G,A,R007_S,ZNF875,Missense_Mutation,NM_001329773,exon4,c.G577A,p.G193S,SNP,SNVindel,exonic,ZNF875,NA,nonsynonymous SNV,"ZNF875:NM_001329773:exon4:c.G577A:p.G193S,ZNF875:NM_001329776:exon4:c.G574A:p.G192S,ZNF875:NM_001329761:exon5:c.G703A:p.G235S,ZNF875:NM_001329762:exon5:c.G703A:p.G235S,ZNF875:NM_001329764:exon5:c.G700A:p.G234S,ZNF875:NM_001329768:exon5:c.G661A:p.G221S,ZNF875:NM_001329769:exon5:c.G658A:p.G220S,ZNF875:NM_001329779:exon5:c.G415A:p.G139S,ZNF875:NM_001353803:exon5:c.G700A:p.G234S,ZNF875:NM_001329772:exon6:c.G577A:p.G193S,ZNF875:NM_001329775:exon6:c.G574A:p.G192S,ZNF875:NM_001329777:exon6:c.G574A:p.G192S,ZNF875:NM_001329778:exon6:c.G574A:p.G192S,ZNF875:NM_181786:exon6:c.G757A:p.G253S,ZNF875:NM_001329766:exon7:c.G685A:p.G229S,ZNF875:NM_001329771:exon7:c.G577A:p.G193S,ZNF875:NM_001329774:exon7:c.G574A:p.G192S,ZNF875:NM_001329763:exon8:c.G700A:p.G234S,ZNF875:NM_001329765:exon8:c.G685A:p.G229S,ZNF875:NM_001329767:exon8:c.G682A:p.G228S,ZNF875:NM_001329770:exon8:c.G643A:p.G215S",T,.,D,T,N,T
chr19,37903747,37903747,G,A,R007_S,ZNF569,Missense_Mutation,NM_001330482,exon5,c.C1336T,p.P446S,SNP,SNVindel,exonic,ZNF569,NA,nonsynonymous SNV,"ZNF569:NM_001330482:exon5:c.C1336T:p.P446S,ZNF569:NM_152484:exon6:c.C1813T:p.P605S",D,.,D,T,D,T
chr19,37975114,37975114,G,A,R007_S,ZNF570,Missense_Mutation,NM_001321992,exon4,c.G464A,p.R155K,SNP,SNVindel,exonic,ZNF570,NA,nonsynonymous SNV,"ZNF570:NM_001321992:exon4:c.G464A:p.R155K,ZNF570:NM_001321991:exon5:c.G590A:p.R197K,ZNF570:NM_144694:exon5:c.G590A:p.R197K,ZNF570:NM_001300993:exon6:c.G758A:p.R253K",T,N,D,T,N,T
chr19,37975884,37975884,G,A,R007_S,ZNF570,Missense_Mutation,NM_001321992,exon4,c.G1234A,p.D412N,SNP,SNVindel,exonic,ZNF570,NA,nonsynonymous SNV,"ZNF570:NM_001321992:exon4:c.G1234A:p.D412N,ZNF570:NM_001321994:exon4:c.G751A:p.D251N,ZNF570:NM_001321991:exon5:c.G1360A:p.D454N,ZNF570:NM_001321993:exon5:c.G751A:p.D251N,ZNF570:NM_144694:exon5:c.G1360A:p.D454N,ZNF570:NM_001300993:exon6:c.G1528A:p.D510N",T,N,N,T,N,T
chr19,38126751,38126751,C,T,R007_S,ZFP30,Missense_Mutation,NM_001320666,exon6,c.G691A,p.V231I,SNP,SNVindel,exonic,ZFP30,NA,nonsynonymous SNV,"ZFP30:NM_001320666:exon6:c.G691A:p.V231I,ZFP30:NM_001320667:exon6:c.G691A:p.V231I,ZFP30:NM_001320668:exon6:c.G691A:p.V231I,ZFP30:NM_001320669:exon6:c.G691A:p.V231I,ZFP30:NM_001320670:exon6:c.G688A:p.V230I,ZFP30:NM_001320671:exon6:c.G688A:p.V230I,ZFP30:NM_014898:exon6:c.G691A:p.V231I",T,N,N,T,N,T
chr19,38160427,38160427,C,T,R007_S,ZNF781,Missense_Mutation,NM_152605,exon4,c.G623A,p.R208K,SNP,SNVindel,exonic,ZNF781,NA,nonsynonymous SNV,ZNF781:NM_152605:exon4:c.G623A:p.R208K,T,.,N,T,N,T
chr19,38376013,38376013,C,T,R007_S,WDR87,Silent,NM_001291088,exon6,c.G8298A,p.E2766E,SNP,SNVindel,exonic,WDR87,NA,synonymous SNV,"WDR87:NM_001291088:exon6:c.G8298A:p.E2766E,WDR87:NM_031951:exon6:c.G8181A:p.E2727E",NA,NA,NA,NA,NA,NA
chr19,38378536,38378536,C,T,R007_S,WDR87,Silent,NM_001291088,exon6,c.G5775A,p.K1925K,SNP,SNVindel,exonic,WDR87,NA,synonymous SNV,"WDR87:NM_001291088:exon6:c.G5775A:p.K1925K,WDR87:NM_031951:exon6:c.G5658A:p.K1886K",NA,NA,NA,NA,NA,NA
chr19,38378920,38378920,C,T,R007_S,WDR87,Nonsense_Mutation,NM_001291088,exon6,c.G5391A,p.W1797X,SNP,SNVindel,exonic,WDR87,NA,stopgain,"WDR87:NM_001291088:exon6:c.G5391A:p.W1797X,WDR87:NM_031951:exon6:c.G5274A:p.W1758X",.,.,D,.,.,.
chr19,38572468,38572468,C,T,R007_S,SIPA1L3,Missense_Mutation,NM_015073,exon3,c.C263T,p.P88L,SNP,SNVindel,exonic,SIPA1L3,NA,nonsynonymous SNV,SIPA1L3:NM_015073:exon3:c.C263T:p.P88L,D,D,D,D,D,D
chr19,38572653,38572653,G,A,R007_S,SIPA1L3,Missense_Mutation,NM_015073,exon3,c.G448A,p.E150K,SNP,SNVindel,exonic,SIPA1L3,NA,nonsynonymous SNV,SIPA1L3:NM_015073:exon3:c.G448A:p.E150K,T,D,D,T,N,T
chr19,38692521,38692521,C,T,R007_S,SIPA1L3,Silent,NM_015073,exon20,c.C5004T,p.L1668L,SNP,SNVindel,exonic,SIPA1L3,NA,synonymous SNV,SIPA1L3:NM_015073:exon20:c.C5004T:p.L1668L,NA,NA,NA,NA,NA,NA
chr19,38780913,38780913,C,T,R007_S,SPINT2,Silent,NM_001166103,exon4,c.C375T,p.R125R,SNP,SNVindel,exonic,SPINT2,NA,synonymous SNV,"SPINT2:NM_001166103:exon4:c.C375T:p.R125R,SPINT2:NM_021102:exon5:c.C546T:p.R182R",NA,NA,NA,NA,NA,NA
chr19,38799890,38799890,G,A,R007_S,YIF1B,Silent,NM_001039671,exon3,c.C331T,p.L111L,SNP,SNVindel,exonic,YIF1B,NA,synonymous SNV,"YIF1B:NM_001039671:exon3:c.C331T:p.L111L,YIF1B:NM_001039672:exon3:c.C376T:p.L126L,YIF1B:NM_001039673:exon3:c.C367T:p.L123L,YIF1B:NM_001145461:exon3:c.C325T:p.L109L,YIF1B:NM_001145462:exon3:c.C283T:p.L95L,YIF1B:NM_001145463:exon3:c.C367T:p.L123L",NA,NA,NA,NA,NA,NA
chr19,38837098,38837098,C,T,R007_S,CATSPERG,Silent,NM_001330496,exon7,c.C678T,p.N226N,SNP,SNVindel,exonic,CATSPERG,NA,synonymous SNV,"CATSPERG:NM_001330496:exon7:c.C678T:p.N226N,CATSPERG:NM_021185:exon7:c.C678T:p.N226N",NA,NA,NA,NA,NA,NA
chr19,38895635,38895635,G,A,R007_S,FAM98C,Missense_Mutation,NM_001351675,exon4,c.G437A,p.G146E,SNP,SNVindel,exonic,FAM98C,NA,nonsynonymous SNV,"FAM98C:NM_001351675:exon4:c.G437A:p.G146E,FAM98C:NM_174905:exon4:c.G437A:p.G146E",T,N,N,T,N,T
chr19,38896219,38896219,C,T,R007_S,FAM98C,Missense_Mutation,NM_001351675,exon5,c.C616T,p.L206F,SNP,SNVindel,exonic,FAM98C,NA,nonsynonymous SNV,"FAM98C:NM_001351675:exon5:c.C616T:p.L206F,FAM98C:NM_174905:exon6:c.C694T:p.L232F",D,N,N,T,D,T
chr19,38960020,38960020,G,A,R007_S,RYR1,Missense_Mutation,NM_000540,exon27,c.G3632A,p.R1211K,SNP,SNVindel,exonic,RYR1,NA,nonsynonymous SNV,"RYR1:NM_000540:exon27:c.G3632A:p.R1211K,RYR1:NM_001042723:exon27:c.G3632A:p.R1211K",T,U,N,D,N,T
chr19,38986948,38986948,C,T,R007_S,RYR1,Silent,NM_000540,exon40,c.C6642T,p.V2214V,SNP,SNVindel,exonic,RYR1,NA,synonymous SNV,"RYR1:NM_000540:exon40:c.C6642T:p.V2214V,RYR1:NM_001042723:exon40:c.C6642T:p.V2214V",NA,NA,NA,NA,NA,NA
chr19,39001302,39001302,C,T,R007_S,RYR1,Silent,NM_000540,exon60,c.C9003T,p.I3001I,SNP,SNVindel,exonic,RYR1,NA,synonymous SNV,"RYR1:NM_000540:exon60:c.C9003T:p.I3001I,RYR1:NM_001042723:exon60:c.C9003T:p.I3001I",NA,NA,NA,NA,NA,NA
chr19,39009940,39009940,G,A,R007_S,RYR1,Missense_Mutation,NM_000540,exon67,c.G10105A,p.A3369T,SNP,SNVindel,exonic,RYR1,NA,nonsynonymous SNV,"RYR1:NM_000540:exon67:c.G10105A:p.A3369T,RYR1:NM_001042723:exon67:c.G10105A:p.A3369T",T,U,D,D,N,D
chr19,39070657,39070657,C,T,R007_S,RYR1,Silent,NM_001042723,exon99,c.C14385T,p.S4795S,SNP,SNVindel,exonic,RYR1,NA,synonymous SNV,"RYR1:NM_001042723:exon99:c.C14385T:p.S4795S,RYR1:NM_000540:exon100:c.C14400T:p.S4800S",NA,NA,NA,NA,NA,NA
chr19,39090776,39090776,C,T,R007_S,MAP4K1,Missense_Mutation,NM_001042600,exon21,c.G1549A,p.G517R,SNP,SNVindel,exonic,MAP4K1,NA,nonsynonymous SNV,"MAP4K1:NM_001042600:exon21:c.G1549A:p.G517R,MAP4K1:NM_007181:exon21:c.G1549A:p.G517R",D,D,D,T,D,T
chr19,39228945,39228945,G,A,R007_S,CAPN12,Silent,NM_144691,exon8,c.C933T,p.A311A,SNP,SNVindel,exonic,CAPN12,NA,synonymous SNV,CAPN12:NM_144691:exon8:c.C933T:p.A311A,NA,NA,NA,NA,NA,NA
chr19,39306550,39306550,C,T,R007_S,ECH1,Missense_Mutation,NM_001398,exon9,c.G829A,p.V277I,SNP,SNVindel,exonic,ECH1,NA,nonsynonymous SNV,ECH1:NM_001398:exon9:c.G829A:p.V277I,T,N,N,T,N,T
chr19,39361445,39361445,G,A,R007_S,RINL,Silent,NM_001195833,exon8,c.C789T,p.V263V,SNP,SNVindel,exonic,RINL,NA,synonymous SNV,"RINL:NM_001195833:exon8:c.C789T:p.V263V,RINL:NM_198445:exon8:c.C447T:p.V149V",NA,NA,NA,NA,NA,NA
chr19,39370132,39370132,G,A,R007_S,SIRT2,Missense_Mutation,NM_030593,exon14,c.C845T,p.A282V,SNP,SNVindel,exonic,SIRT2,NA,nonsynonymous SNV,"SIRT2:NM_030593:exon14:c.C845T:p.A282V,SIRT2:NM_012237:exon15:c.C956T:p.A319V",D,D,D,T,D,T
chr19,39372096,39372096,C,T,R007_S,SIRT2,Missense_Mutation,NM_001193286,exon9,c.G556A,p.D186N,SNP,SNVindel,exonic,SIRT2,NA,nonsynonymous SNV,"SIRT2:NM_001193286:exon9:c.G556A:p.D186N,SIRT2:NM_030593:exon9:c.G556A:p.D186N,SIRT2:NM_012237:exon10:c.G667A:p.D223N",T,N,N,T,N,T
chr19,39409136,39409136,G,A,R007_S,SARS2,Missense_Mutation,NM_017827,exon9,c.C842T,p.S281F,SNP,SNVindel,exonic,SARS2,NA,nonsynonymous SNV,"SARS2:NM_017827:exon9:c.C842T:p.S281F,SARS2:NM_001145901:exon10:c.C848T:p.S283F",D,D,.,T,D,D
chr19,39787135,39787135,C,T,R007_S,IFNL1,Missense_Mutation,NM_172140,exon1,c.C74T,p.S25F,SNP,SNVindel,exonic,IFNL1,NA,nonsynonymous SNV,IFNL1:NM_172140:exon1:c.C74T:p.S25F,T,N,N,T,D,T
chr19,39789045,39789045,C,T,R007_S,IFNL1,Silent,NM_172140,exon5,c.C492T,p.C164C,SNP,SNVindel,exonic,IFNL1,NA,synonymous SNV,IFNL1:NM_172140:exon5:c.C492T:p.C164C,NA,NA,NA,NA,NA,NA
chr19,39798491,39798491,G,A,R007_S,LRFN1,Missense_Mutation,NM_020862,exon2,c.C2098T,p.P700S,SNP,SNVindel,exonic,LRFN1,NA,nonsynonymous SNV,LRFN1:NM_020862:exon2:c.C2098T:p.P700S,T,N,N,T,N,T
chr19,39805436,39805436,C,T,R007_S,LRFN1,Missense_Mutation,NM_020862,exon1,c.G541A,p.A181T,SNP,SNVindel,exonic,LRFN1,NA,nonsynonymous SNV,LRFN1:NM_020862:exon1:c.G541A:p.A181T,T,N,D,T,N,T
chr19,39805481,39805481,C,T,R007_S,LRFN1,Missense_Mutation,NM_020862,exon1,c.G496A,p.D166N,SNP,SNVindel,exonic,LRFN1,NA,nonsynonymous SNV,LRFN1:NM_020862:exon1:c.G496A:p.D166N,D,D,D,T,D,T
chr19,39866377,39866377,G,A,R007_S,SAMD4B,Missense_Mutation,NM_001303614,exon4,c.G755A,p.S252N,SNP,SNVindel,exonic,SAMD4B,NA,nonsynonymous SNV,"SAMD4B:NM_001303614:exon4:c.G755A:p.S252N,SAMD4B:NM_018028:exon7:c.G755A:p.S252N",T,D,N,.,N,T
chr19,39868340,39868340,C,T,R007_S,SAMD4B,Silent,NM_001303614,exon7,c.C1320T,p.D440D,SNP,SNVindel,exonic,SAMD4B,NA,synonymous SNV,"SAMD4B:NM_001303614:exon7:c.C1320T:p.D440D,SAMD4B:NM_018028:exon10:c.C1320T:p.D440D",NA,NA,NA,NA,NA,NA
chr19,39959781,39959781,C,T,R007_S,SUPT5H,Silent,NM_001130825,exon14,c.C1194T,p.G398G,SNP,SNVindel,exonic,SUPT5H,NA,synonymous SNV,"SUPT5H:NM_001130825:exon14:c.C1194T:p.G398G,SUPT5H:NM_001319991:exon14:c.C1194T:p.G398G,SUPT5H:NM_003169:exon14:c.C1206T:p.G402G,SUPT5H:NM_001111020:exon15:c.C1206T:p.G402G,SUPT5H:NM_001130824:exon15:c.C1206T:p.G402G,SUPT5H:NM_001319990:exon15:c.C1206T:p.G402G",NA,NA,NA,NA,NA,NA
chr19,39989909,39989909,C,T,R007_S,DLL3,Silent,NM_016941,exon2,c.C147T,p.P49P,SNP,SNVindel,exonic,DLL3,NA,synonymous SNV,"DLL3:NM_016941:exon2:c.C147T:p.P49P,DLL3:NM_203486:exon2:c.C147T:p.P49P",NA,NA,NA,NA,NA,NA
chr19,40321018,40321018,G,A,R007_S,DYRK1B,Silent,NM_004714,exon4,c.C369T,p.G123G,SNP,SNVindel,exonic,DYRK1B,NA,synonymous SNV,"DYRK1B:NM_004714:exon4:c.C369T:p.G123G,DYRK1B:NM_006483:exon4:c.C369T:p.G123G,DYRK1B:NM_006484:exon4:c.C369T:p.G123G",NA,NA,NA,NA,NA,NA
chr19,40330895,40330895,C,T,R007_S,FBL,Missense_Mutation,NM_001436,exon4,c.G356A,p.G119E,SNP,SNVindel,exonic,FBL,NA,nonsynonymous SNV,FBL:NM_001436:exon4:c.G356A:p.G119E,D,D,D,.,D,D
chr19,40366548,40366548,C,A,R007_S,FCGBP,Silent,NM_003890,exon30,c.G13686T,p.L4562L,SNP,SNVindel,exonic,FCGBP,NA,synonymous SNV,FCGBP:NM_003890:exon30:c.G13686T:p.L4562L,NA,NA,NA,NA,NA,NA
chr19,40411754,40411754,C,T,R007_S,FCGBP,Missense_Mutation,NM_003890,exon7,c.G3874A,p.A1292T,SNP,SNVindel,exonic,FCGBP,NA,nonsynonymous SNV,FCGBP:NM_003890:exon7:c.G3874A:p.A1292T,NA,NA,NA,NA,NA,NA
chr19,40419631,40419631,G,A,R007_S,FCGBP,Silent,NM_003890,exon6,c.C3363T,p.A1121A,SNP,SNVindel,exonic,FCGBP,NA,synonymous SNV,FCGBP:NM_003890:exon6:c.C3363T:p.A1121A,NA,NA,NA,NA,NA,NA
chr19,40434133,40434133,G,A,R007_S,FCGBP,Silent,NM_003890,exon2,c.C136T,p.L46L,SNP,SNVindel,exonic,FCGBP,NA,synonymous SNV,FCGBP:NM_003890:exon2:c.C136T:p.L46L,NA,NA,NA,NA,NA,NA
chr19,40521526,40521526,G,A,R007_S,ZNF546,Silent,NM_001297763,exon7,c.G2271A,p.G757G,SNP,SNVindel,exonic,ZNF546,NA,synonymous SNV,"ZNF546:NM_001297763:exon7:c.G2271A:p.G757G,ZNF546:NM_178544:exon7:c.G2349A:p.G783G",NA,NA,NA,NA,NA,NA
chr19,40580587,40580587,T,A,R007_S,ZNF780A,Nonsense_Mutation,NM_001010880,exon6,c.A1762T,p.K588X,SNP,SNVindel,exonic,ZNF780A,NA,stopgain,"ZNF780A:NM_001010880:exon6:c.A1762T:p.K588X,ZNF780A:NM_001142577:exon6:c.A1765T:p.K589X,ZNF780A:NM_001142578:exon6:c.A1762T:p.K588X",.,.,D,.,.,.
chr19,40710469,40710469,G,A,R007_S,MAP3K10,Missense_Mutation,NM_002446,exon3,c.G941A,p.G314D,SNP,SNVindel,exonic,MAP3K10,NA,nonsynonymous SNV,MAP3K10:NM_002446:exon3:c.G941A:p.G314D,D,D,D,D,D,D
chr19,40827936,40827936,C,T,R007_S,C19orf47,Silent,NM_001256440,exon9,c.G1122A,p.K374K,SNP,SNVindel,exonic,C19orf47,NA,synonymous SNV,"C19orf47:NM_001256440:exon9:c.G1122A:p.K374K,C19orf47:NM_001256441:exon9:c.G1011A:p.K337K",NA,NA,NA,NA,NA,NA
chr19,40882567,40882567,C,T,R007_S,PLD3,Silent,NM_001031696,exon11,c.C1071T,p.G357G,SNP,SNVindel,exonic,PLD3,NA,synonymous SNV,"PLD3:NM_001031696:exon11:c.C1071T:p.G357G,PLD3:NM_001291311:exon11:c.C1071T:p.G357G,PLD3:NM_012268:exon11:c.C1071T:p.G357G",NA,NA,NA,NA,NA,NA
chr19,40902982,40902982,C,T,R007_S,PRX,Missense_Mutation,NM_181882,exon7,c.G1277A,p.G426D,SNP,SNVindel,exonic,PRX,NA,nonsynonymous SNV,PRX:NM_181882:exon7:c.G1277A:p.G426D,T,D,D,T,N,T
chr19,40903216,40903216,C,T,R007_S,PRX,Missense_Mutation,NM_181882,exon7,c.G1043A,p.G348E,SNP,SNVindel,exonic,PRX,NA,nonsynonymous SNV,PRX:NM_181882:exon7:c.G1043A:p.G348E,D,N,N,T,D,T
chr19,41009826,41009826,G,A,R007_S,SPTBN4,Silent,NM_020971,exon12,c.G1452A,p.R484R,SNP,SNVindel,exonic,SPTBN4,NA,synonymous SNV,SPTBN4:NM_020971:exon12:c.G1452A:p.R484R,NA,NA,NA,NA,NA,NA
chr19,41096938,41096938,C,T,R007_S,SHKBP1,Missense_Mutation,NM_138392,exon18,c.C1949T,p.P650L,SNP,SNVindel,exonic,SHKBP1,NA,nonsynonymous SNV,SHKBP1:NM_138392:exon18:c.C1949T:p.P650L,.,D,D,T,N,T
chr19,41103244,41103244,G,A,R007_S,LTBP4,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LTBP4,NA,unknown,UNKNOWN,T,.,D,T,N,T
chr19,41132939,41132939,G,A,R007_S,LTBP4,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LTBP4,NA,unknown,UNKNOWN,T,N,D,T,N,D
chr19,41173407,41173407,C,T,R007_S,NUMBL,Missense_Mutation,NM_001289979,exon9,c.G1673A,p.G558D,SNP,SNVindel,exonic,NUMBL,NA,nonsynonymous SNV,"NUMBL:NM_001289979:exon9:c.G1673A:p.G558D,NUMBL:NM_001289980:exon9:c.G1673A:p.G558D,NUMBL:NM_004756:exon10:c.G1796A:p.G599D",D,N,N,T,N,T
chr19,41211242,41211242,G,A,R007_S,COQ8B,Missense_Mutation,NM_024876,exon6,c.C478T,p.L160F,SNP,SNVindel,exonic,COQ8B,NA,nonsynonymous SNV,COQ8B:NM_024876:exon6:c.C478T:p.L160F,D,D,D,D,D,D
chr19,41224056,41224056,C,T,R007_S,ITPKC,Missense_Mutation,NM_025194,exon1,c.C1016T,p.P339L,SNP,SNVindel,exonic,ITPKC,NA,nonsynonymous SNV,ITPKC:NM_025194:exon1:c.C1016T:p.P339L,D,N,D,.,N,T
chr19,41306723,41306723,G,A,R007_S,EGLN2,Silent,NM_053046,exon2,c.G246A,p.G82G,SNP,SNVindel,exonic,EGLN2,NA,synonymous SNV,"EGLN2:NM_053046:exon2:c.G246A:p.G82G,EGLN2:NM_080732:exon2:c.G246A:p.G82G",NA,NA,NA,NA,NA,NA
chr19,41596312,41596312,C,T,R007_S,CYP2A13,Missense_Mutation,NM_000766,exon4,c.C497T,p.A166V,SNP,SNVindel,exonic,CYP2A13,NA,nonsynonymous SNV,CYP2A13:NM_000766:exon4:c.C497T:p.A166V,T,N,N,T,N,T
chr19,41745200,41745200,C,T,R007_S,AXL,Silent,NM_001278599,exon6,c.C462T,p.P154P,SNP,SNVindel,exonic,AXL,NA,synonymous SNV,"AXL:NM_001278599:exon6:c.C462T:p.P154P,AXL:NM_001699:exon9:c.C1266T:p.P422P,AXL:NM_021913:exon9:c.C1266T:p.P422P",NA,NA,NA,NA,NA,NA
chr19,41916637,41916637,C,T,R007_S,BCKDHA,Silent,NM_000709,exon2,c.C204T,p.I68I,SNP,SNVindel,exonic,BCKDHA,NA,synonymous SNV,"BCKDHA:NM_000709:exon2:c.C204T:p.I68I,BCKDHA:NM_001164783:exon2:c.C204T:p.I68I",NA,NA,NA,NA,NA,NA
chr19,41928140,41928140,G,A,R007_S,BCKDHA,Missense_Mutation,NM_000709,exon6,c.G718A,p.A240T,SNP,SNVindel,exonic,BCKDHA,NA,nonsynonymous SNV,"BCKDHA:NM_000709:exon6:c.G718A:p.A240T,BCKDHA:NM_001164783:exon6:c.G718A:p.A240T",D,D,D,D,D,D
chr19,42408479,42408479,C,T,R007_S,ARHGEF1,Missense_Mutation,NM_198977,exon21,c.C2006T,p.T669I,SNP,SNVindel,exonic,ARHGEF1,NA,nonsynonymous SNV,"ARHGEF1:NM_198977:exon21:c.C2006T:p.T669I,ARHGEF1:NM_004706:exon22:c.C2105T:p.T702I,ARHGEF1:NM_199002:exon22:c.C2150T:p.T717I",T,N,D,T,N,T
chr19,42461174,42461174,C,T,R007_S,RABAC1,Silent,NM_006423,exon4,c.G465A,p.V155V,SNP,SNVindel,exonic,RABAC1,NA,synonymous SNV,RABAC1:NM_006423:exon4:c.G465A:p.V155V,.,.,D,.,.,.
chr19,42471835,42471835,G,A,R007_S,ATP1A3,Missense_Mutation,NM_001256213,exon21,c.C2933T,p.A978V,SNP,SNVindel,exonic,ATP1A3,NA,nonsynonymous SNV,"ATP1A3:NM_001256213:exon21:c.C2933T:p.A978V,ATP1A3:NM_001256214:exon21:c.C2939T:p.A980V,ATP1A3:NM_152296:exon21:c.C2900T:p.A967V",D,D,D,D,N,D
chr19,42489326,42489326,C,T,R007_S,ATP1A3,Missense_Mutation,NM_001256213,exon8,c.G770A,p.G257D,SNP,SNVindel,exonic,ATP1A3,NA,nonsynonymous SNV,"ATP1A3:NM_001256213:exon8:c.G770A:p.G257D,ATP1A3:NM_001256214:exon8:c.G776A:p.G259D,ATP1A3:NM_152296:exon8:c.G737A:p.G246D",D,D,D,D,D,D
chr19,42558029,42558029,C,T,R007_S,GRIK5,Missense_Mutation,NM_001301030,exon9,c.G1109A,p.R370K,SNP,SNVindel,exonic,GRIK5,NA,nonsynonymous SNV,"GRIK5:NM_001301030:exon9:c.G1109A:p.R370K,GRIK5:NM_002088:exon9:c.G1109A:p.R370K",D,D,D,T,D,T
chr19,42583538,42583538,G,A,R007_S,ZNF574,Silent,NM_001330519,exon2,c.G1050A,p.E350E,SNP,SNVindel,exonic,ZNF574,NA,synonymous SNV,"ZNF574:NM_001330519:exon2:c.G1050A:p.E350E,ZNF574:NM_022752:exon2:c.G780A:p.E260E",NA,NA,NA,NA,NA,NA
chr19,42719376,42719376,G,A,R007_S,DEDD2,Silent,NM_001270614,exon3,c.C357T,p.T119T,SNP,SNVindel,exonic,DEDD2,NA,synonymous SNV,"DEDD2:NM_001270614:exon3:c.C357T:p.T119T,DEDD2:NM_001270615:exon3:c.C357T:p.T119T,DEDD2:NM_133328:exon3:c.C357T:p.T119T",NA,NA,NA,NA,NA,NA
chr19,42721063,42721063,C,T,R007_S,DEDD2,Missense_Mutation,NM_001270614,exon2,c.G97A,p.V33M,SNP,SNVindel,exonic,DEDD2,NA,nonsynonymous SNV,"DEDD2:NM_001270614:exon2:c.G97A:p.V33M,DEDD2:NM_001270615:exon2:c.G97A:p.V33M,DEDD2:NM_133328:exon2:c.G97A:p.V33M",D,D,D,.,N,T
chr19,42795502,42795502,G,A,R007_S,CIC,Missense_Mutation,NM_015125,exon10,c.G2582A,p.S861N,SNP,SNVindel,exonic,CIC,NA,nonsynonymous SNV,"CIC:NM_015125:exon10:c.G2582A:p.S861N,CIC:NM_001304815:exon11:c.G5309A:p.S1770N",D,.,D,D,N,T
chr19,42797311,42797311,G,A,R007_S,CIC,Missense_Mutation,NM_015125,exon15,c.G3673A,p.G1225R,SNP,SNVindel,exonic,CIC,NA,nonsynonymous SNV,"CIC:NM_015125:exon15:c.G3673A:p.G1225R,CIC:NM_001304815:exon16:c.G6400A:p.G2134R",.,.,D,D,.,T
chr19,42801488,42801488,G,A,R007_S,PAFAH1B3,Silent,NM_002573,exon5,c.C438T,p.N146N,SNP,SNVindel,exonic,PAFAH1B3,NA,synonymous SNV,"PAFAH1B3:NM_002573:exon5:c.C438T:p.N146N,PAFAH1B3:NM_001145939:exon6:c.C438T:p.N146N,PAFAH1B3:NM_001145940:exon6:c.C438T:p.N146N",NA,NA,NA,NA,NA,NA
chr19,42814280,42814280,C,T,R007_S,PRR19,Missense_Mutation,NM_199285,exon2,c.C544T,p.H182Y,SNP,SNVindel,exonic,PRR19,NA,nonsynonymous SNV,PRR19:NM_199285:exon2:c.C544T:p.H182Y,T,N,N,.,N,T
chr19,42828890,42828890,C,T,R007_S,TMEM145,Missense_Mutation,NM_173633,exon15,c.C1403T,p.P468L,SNP,SNVindel,exonic,TMEM145,NA,nonsynonymous SNV,TMEM145:NM_173633:exon15:c.C1403T:p.P468L,D,N,D,T,N,T
chr19,42857243,42857243,C,T,R007_S,MEGF8,Missense_Mutation,NM_001410,exon19,c.C3313T,p.R1105C,SNP,SNVindel,exonic,MEGF8,NA,nonsynonymous SNV,"MEGF8:NM_001410:exon19:c.C3313T:p.R1105C,MEGF8:NM_001271938:exon20:c.C3514T:p.R1172C",T,N,D,T,N,T
chr19,42872806,42872806,C,T,R007_S,MEGF8,Missense_Mutation,NM_001410,exon35,c.C6272T,p.P2091L,SNP,SNVindel,exonic,MEGF8,NA,nonsynonymous SNV,"MEGF8:NM_001410:exon35:c.C6272T:p.P2091L,MEGF8:NM_001271938:exon36:c.C6473T:p.P2158L",D,N,D,T,D,T
chr19,42880185,42880185,C,T,R007_S,MEGF8,Missense_Mutation,NM_001410,exon41,c.C7595T,p.T2532I,SNP,SNVindel,exonic,MEGF8,NA,nonsynonymous SNV,"MEGF8:NM_001410:exon41:c.C7595T:p.T2532I,MEGF8:NM_001271938:exon42:c.C7796T:p.T2599I",D,D,D,T,D,T
chr19,42911773,42911773,G,A,R007_S,LIPE,Silent,NM_005357,exon5,c.C1827T,p.D609D,SNP,SNVindel,exonic,LIPE,NA,synonymous SNV,LIPE:NM_005357:exon5:c.C1827T:p.D609D,NA,NA,NA,NA,NA,NA
chr19,42931075,42931075,C,T,R007_S,LIPE,Missense_Mutation,NM_005357,exon1,c.G227A,p.R76K,SNP,SNVindel,exonic,LIPE,NA,nonsynonymous SNV,LIPE:NM_005357:exon1:c.G227A:p.R76K,T,N,N,T,N,T
chr19,43858106,43858106,G,T,R007_S,CD177,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CD177,NA,unknown,UNKNOWN,.,.,N,.,.,T
chr19,44039689,44039689,C,T,R007_S,ZNF575,Silent,NM_174945,exon4,c.C588T,p.R196R,SNP,SNVindel,exonic,ZNF575,NA,synonymous SNV,ZNF575:NM_174945:exon4:c.C588T:p.R196R,NA,NA,NA,NA,NA,NA
chr19,44097347,44097347,C,T,R007_S,IRGQ,Missense_Mutation,NM_001007561,exon3,c.G703A,p.V235M,SNP,SNVindel,exonic,IRGQ,NA,nonsynonymous SNV,IRGQ:NM_001007561:exon3:c.G703A:p.V235M,T,N,N,T,N,T
chr19,44117227,44117227,C,T,R007_S,SRRM5,Silent,NM_001145641,exon1,c.C954T,p.T318T,SNP,SNVindel,exonic,SRRM5,NA,synonymous SNV,SRRM5:NM_001145641:exon1:c.C954T:p.T318T,NA,NA,NA,NA,NA,NA
chr19,44131833,44131833,G,A,R007_S,CADM4,Silent,NM_145296,exon2,c.C174T,p.N58N,SNP,SNVindel,exonic,CADM4,NA,synonymous SNV,CADM4:NM_145296:exon2:c.C174T:p.N58N,NA,NA,NA,NA,NA,NA
chr19,44223260,44223260,G,T,R007_S,IRGC,Missense_Mutation,NM_019612,exon2,c.G550T,p.G184C,SNP,SNVindel,exonic,IRGC,NA,nonsynonymous SNV,IRGC:NM_019612:exon2:c.G550T:p.G184C,D,N,N,T,N,T
chr19,44223387,44223387,C,T,R007_S,IRGC,Missense_Mutation,NM_019612,exon2,c.C677T,p.P226L,SNP,SNVindel,exonic,IRGC,NA,nonsynonymous SNV,IRGC:NM_019612:exon2:c.C677T:p.P226L,T,N,D,T,D,T
chr19,44278615,44278615,G,A,R007_S,KCNN4,Missense_Mutation,NM_002250,exon3,c.C412T,p.P138S,SNP,SNVindel,exonic,KCNN4,NA,nonsynonymous SNV,KCNN4:NM_002250:exon3:c.C412T:p.P138S,T,N,N,D,N,D
chr19,44280751,44280751,C,T,R007_S,KCNN4,Missense_Mutation,NM_002250,exon2,c.G197A,p.S66N,SNP,SNVindel,exonic,KCNN4,NA,nonsynonymous SNV,KCNN4:NM_002250:exon2:c.G197A:p.S66N,D,D,D,D,N,D
chr19,44418165,44418165,C,T,R007_S,ZNF45,Missense_Mutation,NM_003425,exon10,c.G1423A,p.G475S,SNP,SNVindel,exonic,ZNF45,NA,nonsynonymous SNV,ZNF45:NM_003425:exon10:c.G1423A:p.G475S,T,N,N,T,N,T
chr19,44515139,44515139,C,T,R007_S,ZNF230,Silent,NM_006300,exon5,c.C948T,p.G316G,SNP,SNVindel,exonic,ZNF230,NA,synonymous SNV,ZNF230:NM_006300:exon5:c.C948T:p.G316G,NA,NA,NA,NA,NA,NA
chr19,44570437,44570437,G,A,R007_S,ZNF223,Silent,NM_013361,exon5,c.G456A,p.K152K,SNP,SNVindel,exonic,ZNF223,NA,synonymous SNV,ZNF223:NM_013361:exon5:c.G456A:p.K152K,NA,NA,NA,NA,NA,NA
chr19,44612050,44612050,G,A,R007_S,ZNF224,Silent,NM_001321645,exon6,c.G1737A,p.Q579Q,SNP,SNVindel,exonic,ZNF224,NA,synonymous SNV,"ZNF224:NM_001321645:exon6:c.G1737A:p.Q579Q,ZNF224:NM_013398:exon6:c.G1737A:p.Q579Q",NA,NA,NA,NA,NA,NA
chr19,44679922,44679922,C,T,R007_S,ZNF226,Silent,NM_001032372,exon6,c.C507T,p.T169T,SNP,SNVindel,exonic,ZNF226,NA,synonymous SNV,"ZNF226:NM_001032372:exon6:c.C507T:p.T169T,ZNF226:NM_001032373:exon6:c.C507T:p.T169T,ZNF226:NM_001319088:exon6:c.C507T:p.T169T,ZNF226:NM_001319090:exon6:c.C507T:p.T169T,ZNF226:NM_001319089:exon7:c.C507T:p.T169T,ZNF226:NM_016444:exon7:c.C507T:p.T169T",NA,NA,NA,NA,NA,NA
chr19,44739828,44739828,G,A,R007_S,ZNF227,Silent,NM_001289170,exon4,c.G1008A,p.K336K,SNP,SNVindel,exonic,ZNF227,NA,synonymous SNV,"ZNF227:NM_001289170:exon4:c.G1008A:p.K336K,ZNF227:NM_001289171:exon4:c.G1008A:p.K336K,ZNF227:NM_001289172:exon4:c.G954A:p.K318K,ZNF227:NM_001289168:exon5:c.G1092A:p.K364K,ZNF227:NM_001289169:exon5:c.G1092A:p.K364K,ZNF227:NM_001289173:exon5:c.G1161A:p.K387K,ZNF227:NM_001289166:exon6:c.G1245A:p.K415K,ZNF227:NM_001289167:exon6:c.G1092A:p.K364K,ZNF227:NM_182490:exon6:c.G1245A:p.K415K",NA,NA,NA,NA,NA,NA
chr19,44740068,44740068,G,A,R007_S,ZNF227,Silent,NM_001289170,exon4,c.G1248A,p.K416K,SNP,SNVindel,exonic,ZNF227,NA,synonymous SNV,"ZNF227:NM_001289170:exon4:c.G1248A:p.K416K,ZNF227:NM_001289171:exon4:c.G1248A:p.K416K,ZNF227:NM_001289172:exon4:c.G1194A:p.K398K,ZNF227:NM_001289168:exon5:c.G1332A:p.K444K,ZNF227:NM_001289169:exon5:c.G1332A:p.K444K,ZNF227:NM_001289173:exon5:c.G1401A:p.K467K,ZNF227:NM_001289166:exon6:c.G1485A:p.K495K,ZNF227:NM_001289167:exon6:c.G1332A:p.K444K,ZNF227:NM_182490:exon6:c.G1485A:p.K495K",NA,NA,NA,NA,NA,NA
chr19,44740681,44740681,A,G,R007_S,ZNF227,Missense_Mutation,NM_001289170,exon4,c.A1861G,p.S621G,SNP,SNVindel,exonic,ZNF227,NA,nonsynonymous SNV,"ZNF227:NM_001289170:exon4:c.A1861G:p.S621G,ZNF227:NM_001289171:exon4:c.A1861G:p.S621G,ZNF227:NM_001289172:exon4:c.A1807G:p.S603G,ZNF227:NM_001289168:exon5:c.A1945G:p.S649G,ZNF227:NM_001289169:exon5:c.A1945G:p.S649G,ZNF227:NM_001289173:exon5:c.A2014G:p.S672G,ZNF227:NM_001289166:exon6:c.A2098G:p.S700G,ZNF227:NM_001289167:exon6:c.A1945G:p.S649G,ZNF227:NM_182490:exon6:c.A2098G:p.S700G",T,.,N,T,N,T
chr19,44831937,44831937,C,T,R007_S,ZNF112,Silent,NM_001348284,exon3,c.G2190A,p.R730R,SNP,SNVindel,exonic,ZNF112,NA,synonymous SNV,"ZNF112:NM_001348284:exon3:c.G2190A:p.R730R,ZNF112:NM_001348282:exon4:c.G2373A:p.R791R,ZNF112:NM_001348283:exon4:c.G2373A:p.R791R,ZNF112:NM_013380:exon4:c.G2373A:p.R791R,ZNF112:NM_001083335:exon5:c.G2391A:p.R797R,ZNF112:NM_001348281:exon5:c.G2442A:p.R814R,ZNF112:NM_001348285:exon5:c.G2190A:p.R730R",NA,NA,NA,NA,NA,NA
chr19,44832142,44832142,C,T,R007_S,ZNF112,Missense_Mutation,NM_001348284,exon3,c.G1985A,p.G662D,SNP,SNVindel,exonic,ZNF112,NA,nonsynonymous SNV,"ZNF112:NM_001348284:exon3:c.G1985A:p.G662D,ZNF112:NM_001348282:exon4:c.G2168A:p.G723D,ZNF112:NM_001348283:exon4:c.G2168A:p.G723D,ZNF112:NM_013380:exon4:c.G2168A:p.G723D,ZNF112:NM_001083335:exon5:c.G2186A:p.G729D,ZNF112:NM_001348281:exon5:c.G2237A:p.G746D,ZNF112:NM_001348285:exon5:c.G1985A:p.G662D",T,N,N,T,D,T
chr19,44832178,44832178,C,T,R007_S,ZNF112,Missense_Mutation,NM_001348284,exon3,c.G1949A,p.G650E,SNP,SNVindel,exonic,ZNF112,NA,nonsynonymous SNV,"ZNF112:NM_001348284:exon3:c.G1949A:p.G650E,ZNF112:NM_001348282:exon4:c.G2132A:p.G711E,ZNF112:NM_001348283:exon4:c.G2132A:p.G711E,ZNF112:NM_013380:exon4:c.G2132A:p.G711E,ZNF112:NM_001083335:exon5:c.G2150A:p.G717E,ZNF112:NM_001348281:exon5:c.G2201A:p.G734E,ZNF112:NM_001348285:exon5:c.G1949A:p.G650E",D,N,D,T,D,T
chr19,44832272,44832272,C,T,R007_S,ZNF112,Missense_Mutation,NM_001348284,exon3,c.G1855A,p.V619I,SNP,SNVindel,exonic,ZNF112,NA,nonsynonymous SNV,"ZNF112:NM_001348284:exon3:c.G1855A:p.V619I,ZNF112:NM_001348282:exon4:c.G2038A:p.V680I,ZNF112:NM_001348283:exon4:c.G2038A:p.V680I,ZNF112:NM_013380:exon4:c.G2038A:p.V680I,ZNF112:NM_001083335:exon5:c.G2056A:p.V686I,ZNF112:NM_001348281:exon5:c.G2107A:p.V703I,ZNF112:NM_001348285:exon5:c.G1855A:p.V619I",T,N,N,T,N,T
chr19,44983507,44983507,G,A,R007_S,ZNF180,Silent,NM_001278508,exon3,c.C252T,p.V84V,SNP,SNVindel,exonic,ZNF180,NA,synonymous SNV,"ZNF180:NM_001278508:exon3:c.C252T:p.V84V,ZNF180:NM_001278509:exon4:c.C246T:p.V82V,ZNF180:NM_001288759:exon4:c.C324T:p.V108V,ZNF180:NM_001291633:exon4:c.C246T:p.V82V,ZNF180:NM_013256:exon4:c.C327T:p.V109V",.,.,D,T,.,.
chr19,45254586,45254586,C,T,R007_S,BCL3,Missense_Mutation,NM_005178,exon2,c.C359T,p.P120L,SNP,SNVindel,exonic,BCL3,NA,nonsynonymous SNV,BCL3:NM_005178:exon2:c.C359T:p.P120L,T,D,D,T,N,T
chr19,45262067,45262067,C,T,R007_S,BCL3,Silent,NM_005178,exon8,c.C1146T,p.S382S,SNP,SNVindel,exonic,BCL3,NA,synonymous SNV,BCL3:NM_005178:exon8:c.C1146T:p.S382S,NA,NA,NA,NA,NA,NA
chr19,45368862,45368862,G,A,R007_S,NECTIN2,Silent,NM_001042724,exon2,c.G423A,p.E141E,SNP,SNVindel,exonic,NECTIN2,NA,synonymous SNV,"NECTIN2:NM_001042724:exon2:c.G423A:p.E141E,NECTIN2:NM_002856:exon2:c.G423A:p.E141E",NA,NA,NA,NA,NA,NA
chr19,45391424,45391424,C,T,R007_S,NECTIN2,Missense_Mutation,NM_001042724,exon9,c.C1405T,p.P469S,SNP,SNVindel,exonic,NECTIN2,NA,nonsynonymous SNV,NECTIN2:NM_001042724:exon9:c.C1405T:p.P469S,T,N,N,D,N,T
chr19,45452010,45452010,C,T,R007_S,APOC2,Silent,NM_000483,exon3,c.C108T,p.F36F,SNP,SNVindel,exonic,APOC2,NA,synonymous SNV,APOC2:NM_000483:exon3:c.C108T:p.F36F,NA,NA,NA,NA,NA,NA
chr19,45465284,45465284,C,T,R007_S,CLPTM1,Missense_Mutation,NM_001282175,exon2,c.C95T,p.A32V,SNP,SNVindel,exonic,CLPTM1,NA,nonsynonymous SNV,"CLPTM1:NM_001282175:exon2:c.C95T:p.A32V,CLPTM1:NM_001294:exon2:c.C137T:p.A46V",T,D,D,.,N,T
chr19,45532225,45532225,C,T,R007_S,RELB,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,RELB,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,45579499,45579499,C,T,R007_S,ZNF296,Missense_Mutation,NM_145288,exon1,c.G133A,p.A45T,SNP,SNVindel,exonic,ZNF296,NA,nonsynonymous SNV,ZNF296:NM_145288:exon1:c.G133A:p.A45T,D,N,N,T,N,T
chr19,45656296,45656296,C,T,R007_S,NKPD1,Missense_Mutation,NM_198478,exon4,c.G1399A,p.E467K,SNP,SNVindel,exonic,NKPD1,NA,nonsynonymous SNV,NKPD1:NM_198478:exon4:c.G1399A:p.E467K,T,N,N,T,D,T
chr19,45818846,45818846,C,T,R007_S,CKM,Missense_Mutation,NM_001824,exon4,c.G358A,p.D120N,SNP,SNVindel,exonic,CKM,NA,nonsynonymous SNV,CKM:NM_001824:exon4:c.G358A:p.D120N,T,D,D,T,N,T
chr19,45895528,45895528,C,T,R007_S,PPP1R13L,Silent,NM_001142502,exon8,c.G1425A,p.E475E,SNP,SNVindel,exonic,PPP1R13L,NA,synonymous SNV,"PPP1R13L:NM_001142502:exon8:c.G1425A:p.E475E,PPP1R13L:NM_006663:exon8:c.G1425A:p.E475E",NA,NA,NA,NA,NA,NA
chr19,46003311,46003311,C,T,R007_S,PPM1N,Silent,NM_001080401,exon2,c.C1044T,p.G348G,SNP,SNVindel,exonic,PPM1N,NA,synonymous SNV,PPM1N:NM_001080401:exon2:c.C1044T:p.G348G,NA,NA,NA,NA,NA,NA
chr19,46032433,46032433,C,T,R007_S,OPA3,Missense_Mutation,NM_001017989,exon2,c.G424A,p.A142T,SNP,SNVindel,exonic,OPA3,NA,nonsynonymous SNV,OPA3:NM_001017989:exon2:c.G424A:p.A142T,T,N,N,D,N,T
chr19,46056815,46056815,G,A,R007_S,OPA3,Missense_Mutation,NM_025136,exon2,c.C497T,p.P166L,SNP,SNVindel,exonic,OPA3,NA,nonsynonymous SNV,OPA3:NM_025136:exon2:c.C497T:p.P166L,T,.,N,D,N,T
chr19,46094646,46094646,C,T,R007_S,GPR4,Missense_Mutation,NM_005282,exon2,c.G479A,p.R160Q,SNP,SNVindel,exonic,GPR4,NA,nonsynonymous SNV,GPR4:NM_005282:exon2:c.G479A:p.R160Q,T,N,D,T,N,T
chr19,46294316,46294316,C,T,R007_S,DMWD,Silent,NM_004943,exon2,c.G471A,p.K157K,SNP,SNVindel,exonic,DMWD,NA,synonymous SNV,DMWD:NM_004943:exon2:c.G471A:p.K157K,NA,NA,NA,NA,NA,NA
chr19,46375527,46375527,C,T,R007_S,FOXA3,Silent,NM_004497,exon2,c.C264T,p.S88S,SNP,SNVindel,exonic,FOXA3,NA,synonymous SNV,FOXA3:NM_004497:exon2:c.C264T:p.S88S,NA,NA,NA,NA,NA,NA
chr19,46444052,46444052,C,T,R007_S,NOVA2,Missense_Mutation,NM_002516,exon4,c.G548A,p.S183N,SNP,SNVindel,exonic,NOVA2,NA,nonsynonymous SNV,NOVA2:NM_002516:exon4:c.G548A:p.S183N,T,D,D,T,N,T
chr19,46522837,46522837,C,T,R007_S,PGLYRP1,Missense_Mutation,NM_005091,exon2,c.G356A,p.G119D,SNP,SNVindel,exonic,PGLYRP1,NA,nonsynonymous SNV,PGLYRP1:NM_005091:exon2:c.G356A:p.G119D,T,N,N,T,D,T
chr19,46627576,46627576,G,A,R007_S,IGFL3,Missense_Mutation,NM_207393,exon2,c.C28T,p.L10F,SNP,SNVindel,exonic,IGFL3,NA,nonsynonymous SNV,IGFL3:NM_207393:exon2:c.C28T:p.L10F,D,.,N,T,N,T
chr19,46664345,46664345,A,G,R007_S,IGFL2,Nonstop_Mutation,NM_001135113,exon4,c.A360G,p.X120W,SNP,SNVindel,exonic,IGFL2,NA,stoploss,"IGFL2:NM_001135113:exon4:c.A360G:p.X120W,IGFL2:NM_001002915:exon5:c.A393G:p.X131W",.,.,N,.,.,.
chr19,46834435,46834435,G,A,R007_S,HIF3A,Missense_Mutation,NM_022462,exon12,c.G1528A,p.D510N,SNP,SNVindel,exonic,HIF3A,NA,nonsynonymous SNV,"HIF3A:NM_022462:exon12:c.G1528A:p.D510N,HIF3A:NM_152794:exon13:c.G1729A:p.D577N,HIF3A:NM_152795:exon13:c.G1735A:p.D579N",D,.,N,T,N,T
chr19,46997201,46997201,C,T,R007_S,PNMA8B,Missense_Mutation,NM_020709,exon1,c.G1522A,p.D508N,SNP,SNVindel,exonic,PNMA8B,NA,nonsynonymous SNV,PNMA8B:NM_020709:exon1:c.G1522A:p.D508N,.,.,N,T,.,.
chr19,47124864,47124864,G,A,R007_S,PTGIR,Silent,NM_000960,exon3,c.C834T,p.F278F,SNP,SNVindel,exonic,PTGIR,NA,synonymous SNV,PTGIR:NM_000960:exon3:c.C834T:p.F278F,NA,NA,NA,NA,NA,NA
chr19,47234095,47234095,C,T,R007_S,STRN4,Missense_Mutation,NM_001039877,exon6,c.G773A,p.G258D,SNP,SNVindel,exonic,STRN4,NA,nonsynonymous SNV,"STRN4:NM_001039877:exon6:c.G773A:p.G258D,STRN4:NM_013403:exon6:c.G773A:p.G258D",T,D,D,T,N,T
chr19,47258744,47258744,G,A,R007_S,FKRP,Missense_Mutation,NM_001039885,exon4,c.G37A,p.A13T,SNP,SNVindel,exonic,FKRP,NA,nonsynonymous SNV,"FKRP:NM_001039885:exon4:c.G37A:p.A13T,FKRP:NM_024301:exon4:c.G37A:p.A13T",T,D,D,D,N,D
chr19,47260003,47260003,G,A,R007_S,FKRP,Nonsense_Mutation,NM_001039885,exon4,c.G1296A,p.W432X,SNP,SNVindel,exonic,FKRP,NA,stopgain,"FKRP:NM_001039885:exon4:c.G1296A:p.W432X,FKRP:NM_024301:exon4:c.G1296A:p.W432X",.,D,D,.,.,.
chr19,47260094,47260094,A,T,R007_S,FKRP,Missense_Mutation,NM_001039885,exon4,c.A1387T,p.N463Y,SNP,SNVindel,exonic,FKRP,NA,nonsynonymous SNV,"FKRP:NM_001039885:exon4:c.A1387T:p.N463Y,FKRP:NM_024301:exon4:c.A1387T:p.N463Y",D,D,D,D,D,D
chr19,47291127,47291127,G,A,R007_S,SLC1A5,Silent,NM_005628,exon1,c.C96T,p.G32G,SNP,SNVindel,exonic,SLC1A5,NA,synonymous SNV,SLC1A5:NM_005628:exon1:c.C96T:p.G32G,NA,NA,NA,NA,NA,NA
chr19,47503764,47503764,C,T,R007_S,ARHGAP35,Missense_Mutation,NM_004491,exon7,c.C4319T,p.P1440L,SNP,SNVindel,exonic,ARHGAP35,NA,nonsynonymous SNV,ARHGAP35:NM_004491:exon7:c.C4319T:p.P1440L,D,D,D,T,N,T
chr19,47571081,47571081,C,T,R007_S,ZC3H4,Missense_Mutation,NM_015168,exon15,c.G2444A,p.S815N,SNP,SNVindel,exonic,ZC3H4,NA,nonsynonymous SNV,ZC3H4:NM_015168:exon15:c.G2444A:p.S815N,T,N,N,T,N,T
chr19,47778257,47778257,G,A,R007_S,INAFM1,Nonsense_Mutation,NM_178511,exon1,c.G81A,p.W27X,SNP,SNVindel,exonic,INAFM1,NA,stopgain,INAFM1:NM_178511:exon1:c.G81A:p.W27X,.,.,D,.,.,.
chr19,47823668,47823668,C,T,R007_S,C5AR1,Silent,NM_001736,exon2,c.C634T,p.L212L,SNP,SNVindel,exonic,C5AR1,NA,synonymous SNV,C5AR1:NM_001736:exon2:c.C634T:p.L212L,NA,NA,NA,NA,NA,NA
chr19,47884177,47884177,C,T,R007_S,DHX34,Silent,NM_014681,exon15,c.C3087T,p.S1029S,SNP,SNVindel,exonic,DHX34,NA,synonymous SNV,DHX34:NM_014681:exon15:c.C3087T:p.S1029S,NA,NA,NA,NA,NA,NA
chr19,47918123,47918123,C,A,R007_S,MEIS3,Missense_Mutation,NM_001301059,exon6,c.G448T,p.V150F,SNP,SNVindel,exonic,MEIS3,NA,nonsynonymous SNV,"MEIS3:NM_001301059:exon6:c.G448T:p.V150F,MEIS3:NM_001346148:exon6:c.G439T:p.V147F,MEIS3:NM_020160:exon6:c.G448T:p.V150F",D,D,D,T,D,T
chr19,47941159,47941159,G,A,R007_S,SLC8A2,Missense_Mutation,NM_015063,exon7,c.C1957T,p.L653F,SNP,SNVindel,exonic,SLC8A2,NA,nonsynonymous SNV,SLC8A2:NM_015063:exon7:c.C1957T:p.L653F,D,U,D,T,D,T
chr19,48032252,48032252,C,T,R007_S,ZNF541,Silent,NM_001277075,exon14,c.G3525A,p.K1175K,SNP,SNVindel,exonic,ZNF541,NA,synonymous SNV,ZNF541:NM_001277075:exon14:c.G3525A:p.K1175K,NA,NA,NA,NA,NA,NA
chr19,48229391,48229391,G,A,R007_S,EHD2,Silent,NM_014601,exon4,c.G825A,p.E275E,SNP,SNVindel,exonic,EHD2,NA,synonymous SNV,EHD2:NM_014601:exon4:c.G825A:p.E275E,NA,NA,NA,NA,NA,NA
chr19,48284132,48284132,C,T,R007_S,SELENOW,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SELENOW,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,48598776,48598776,G,A,R007_S,PLA2G4C,Silent,NM_001159322,exon7,c.C684T,p.F228F,SNP,SNVindel,exonic,PLA2G4C,NA,synonymous SNV,"PLA2G4C:NM_001159322:exon7:c.C684T:p.F228F,PLA2G4C:NM_001159323:exon7:c.C654T:p.F218F,PLA2G4C:NM_003706:exon7:c.C654T:p.F218F",NA,NA,NA,NA,NA,NA
chr19,48832726,48832726,C,T,R007_S,EMP3,Missense_Mutation,NM_001313905,exon4,c.C299T,p.T100I,SNP,SNVindel,exonic,EMP3,NA,nonsynonymous SNV,"EMP3:NM_001313905:exon4:c.C299T:p.T100I,EMP3:NM_001425:exon4:c.C299T:p.T100I",D,D,D,D,D,D
chr19,48848480,48848480,G,A,R007_S,TMEM143,Silent,NM_001303538,exon3,c.C396T,p.S132S,SNP,SNVindel,exonic,TMEM143,NA,synonymous SNV,"TMEM143:NM_001303538:exon3:c.C396T:p.S132S,TMEM143:NM_018273:exon4:c.C501T:p.S167S",NA,NA,NA,NA,NA,NA
chr19,48866738,48866738,C,T,R007_S,TMEM143,Missense_Mutation,NM_001303538,exon2,c.G74A,p.G25E,SNP,SNVindel,exonic,TMEM143,NA,nonsynonymous SNV,"TMEM143:NM_001303538:exon2:c.G74A:p.G25E,TMEM143:NM_001303539:exon2:c.G74A:p.G25E,TMEM143:NM_001303540:exon2:c.G74A:p.G25E,TMEM143:NM_018273:exon2:c.G74A:p.G25E",D,N,D,T,N,T
chr19,48869120,48869120,C,T,R007_S,SYNGR4,Silent,NM_012451,exon2,c.C21T,p.L7L,SNP,SNVindel,exonic,SYNGR4,NA,synonymous SNV,SYNGR4:NM_012451:exon2:c.C21T:p.L7L,NA,NA,NA,NA,NA,NA
chr19,48908475,48908475,C,T,R007_S,GRIN2D,Missense_Mutation,NM_000836,exon3,c.C950T,p.A317V,SNP,SNVindel,exonic,GRIN2D,NA,nonsynonymous SNV,GRIN2D:NM_000836:exon3:c.C950T:p.A317V,T,N,N,T,N,T
chr19,48918201,48918201,C,T,R007_S,GRIN2D,Missense_Mutation,NM_000836,exon6,c.C1493T,p.T498I,SNP,SNVindel,exonic,GRIN2D,NA,nonsynonymous SNV,GRIN2D:NM_000836:exon6:c.C1493T:p.T498I,T,D,D,T,D,T
chr19,48919339,48919339,C,T,R007_S,GRIN2D,Silent,NM_000836,exon7,c.C1662T,p.V554V,SNP,SNVindel,exonic,GRIN2D,NA,synonymous SNV,GRIN2D:NM_000836:exon7:c.C1662T:p.V554V,NA,NA,NA,NA,NA,NA
chr19,49001252,49001252,C,T,R007_S,LMTK3,Missense_Mutation,NM_001080434,exon12,c.G3161A,p.R1054K,SNP,SNVindel,exonic,LMTK3,NA,nonsynonymous SNV,LMTK3:NM_001080434:exon12:c.G3161A:p.R1054K,D,N,N,T,N,T
chr19,49003000,49003000,G,A,R007_S,LMTK3,Silent,NM_001080434,exon12,c.C1413T,p.P471P,SNP,SNVindel,exonic,LMTK3,NA,synonymous SNV,LMTK3:NM_001080434:exon12:c.C1413T:p.P471P,NA,NA,NA,NA,NA,NA
chr19,49106818,49106818,G,A,R007_S,FAM83E,Missense_Mutation,NM_017708,exon4,c.C1109T,p.P370L,SNP,SNVindel,exonic,FAM83E,NA,nonsynonymous SNV,FAM83E:NM_017708:exon4:c.C1109T:p.P370L,D,D,D,T,N,T
chr19,49120015,49120015,C,T,R007_S,RPL18,Missense_Mutation,NM_001270490,exon3,c.G178A,p.D60N,SNP,SNVindel,exonic,RPL18,NA,nonsynonymous SNV,"RPL18:NM_001270490:exon3:c.G178A:p.D60N,RPL18:NM_000979:exon4:c.G265A:p.D89N",D,D,D,.,D,D
chr19,49132485,49132485,C,T,R007_S,SPHK2,Missense_Mutation,NM_001204160,exon6,c.C1312T,p.P438S,SNP,SNVindel,exonic,SPHK2,NA,nonsynonymous SNV,"SPHK2:NM_001204160:exon6:c.C1312T:p.P438S,SPHK2:NM_001243876:exon6:c.C802T:p.P268S,SPHK2:NM_001204158:exon7:c.C1243T:p.P415S,SPHK2:NM_001204159:exon7:c.C1420T:p.P474S,SPHK2:NM_020126:exon7:c.C1420T:p.P474S",T,N,D,T,N,T
chr19,49132502,49132502,G,A,R007_S,SPHK2,Silent,NM_001204160,exon6,c.G1329A,p.K443K,SNP,SNVindel,exonic,SPHK2,NA,synonymous SNV,"SPHK2:NM_001204160:exon6:c.G1329A:p.K443K,SPHK2:NM_001243876:exon6:c.G819A:p.K273K,SPHK2:NM_001204158:exon7:c.G1260A:p.K420K,SPHK2:NM_001204159:exon7:c.G1437A:p.K479K,SPHK2:NM_020126:exon7:c.G1437A:p.K479K",NA,NA,NA,NA,NA,NA
chr19,49207156,49207156,C,T,R007_S,FUT2,Missense_Mutation,NM_000511,exon2,c.C943T,p.P315S,SNP,SNVindel,exonic,FUT2,NA,nonsynonymous SNV,"FUT2:NM_000511:exon2:c.C943T:p.P315S,FUT2:NM_001097638:exon2:c.C943T:p.P315S",T,.,D,D,D,D
chr19,49238515,49238515,G,A,R007_S,RASIP1,Missense_Mutation,NM_017805,exon4,c.C1117T,p.L373F,SNP,SNVindel,exonic,RASIP1,NA,nonsynonymous SNV,RASIP1:NM_017805:exon4:c.C1117T:p.L373F,D,D,D,T,D,T
chr19,49253707,49253707,C,T,R007_S,FUT1,Missense_Mutation,NM_000148,exon4,c.G832A,p.D278N,SNP,SNVindel,exonic,FUT1,NA,nonsynonymous SNV,"FUT1:NM_000148:exon4:c.G832A:p.D278N,FUT1:NM_001329877:exon5:c.G832A:p.D278N",T,N,N,D,D,D
chr19,49254227,49254227,C,T,R007_S,FUT1,Silent,NM_000148,exon4,c.G312A,p.Q104Q,SNP,SNVindel,exonic,FUT1,NA,synonymous SNV,"FUT1:NM_000148:exon4:c.G312A:p.Q104Q,FUT1:NM_001329877:exon5:c.G312A:p.Q104Q",NA,NA,NA,NA,NA,NA
chr19,49316769,49316769,G,A,R007_S,HSD17B14,Silent,NM_016246,exon8,c.C583T,p.L195L,SNP,SNVindel,exonic,HSD17B14,NA,synonymous SNV,HSD17B14:NM_016246:exon8:c.C583T:p.L195L,NA,NA,NA,NA,NA,NA
chr19,49362894,49362894,C,T,R007_S,PLEKHA4,Missense_Mutation,NM_001161354,exon7,c.G524A,p.G175D,SNP,SNVindel,exonic,PLEKHA4,NA,nonsynonymous SNV,"PLEKHA4:NM_001161354:exon7:c.G524A:p.G175D,PLEKHA4:NM_020904:exon7:c.G524A:p.G175D",D,D,D,T,N,T
chr19,49376550,49376550,C,T,R007_S,PPP1R15A,Silent,NM_014330,exon2,c.C60T,p.F20F,SNP,SNVindel,exonic,PPP1R15A,NA,synonymous SNV,PPP1R15A:NM_014330:exon2:c.C60T:p.F20F,NA,NA,NA,NA,NA,NA
chr19,49448156,49448156,C,T,R007_S,DHDH,Missense_Mutation,NM_014475,exon7,c.C971T,p.A324V,SNP,SNVindel,exonic,DHDH,NA,nonsynonymous SNV,DHDH:NM_014475:exon7:c.C971T:p.A324V,T,N,N,T,N,T
chr19,49490552,49490552,C,T,R007_S,GYS1,Missense_Mutation,NM_002103,exon3,c.G391A,p.G131R,SNP,SNVindel,exonic,GYS1,NA,nonsynonymous SNV,GYS1:NM_002103:exon3:c.G391A:p.G131R,T,D,D,T,N,T
chr19,49518910,49518910,G,A,R007_S,RUVBL2,Missense_Mutation,NM_001321190,exon14,c.G1231A,p.E411K,SNP,SNVindel,exonic,RUVBL2,NA,nonsynonymous SNV,"RUVBL2:NM_001321190:exon14:c.G1231A:p.E411K,RUVBL2:NM_001321191:exon14:c.G1198A:p.E400K,RUVBL2:NM_006666:exon14:c.G1333A:p.E445K",.,D,D,T,.,T
chr19,49646257,49646257,G,A,R007_S,PPFIA3,Missense_Mutation,NM_003660,exon21,c.G2741A,p.R914H,SNP,SNVindel,exonic,PPFIA3,NA,nonsynonymous SNV,PPFIA3:NM_003660:exon21:c.G2741A:p.R914H,D,N,D,T,D,T
chr19,49652880,49652880,C,T,R007_S,PPFIA3,Missense_Mutation,NM_003660,exon28,c.C3431T,p.P1144L,SNP,SNVindel,exonic,PPFIA3,NA,nonsynonymous SNV,PPFIA3:NM_003660:exon28:c.C3431T:p.P1144L,T,U,D,T,N,T
chr19,49656921,49656921,C,T,R007_S,HRC,Missense_Mutation,NM_002152,exon1,c.G1574A,p.G525D,SNP,SNVindel,exonic,HRC,NA,nonsynonymous SNV,HRC:NM_002152:exon1:c.G1574A:p.G525D,T,.,D,T,D,T
chr19,49910166,49910166,G,A,R007_S,CCDC155,Silent,NM_144688,exon10,c.G822A,p.R274R,SNP,SNVindel,exonic,CCDC155,NA,synonymous SNV,CCDC155:NM_144688:exon10:c.G822A:p.R274R,NA,NA,NA,NA,NA,NA
chr19,49930723,49930723,C,T,R007_S,GFY,Missense_Mutation,NM_001195256,exon1,c.C1036T,p.P346S,SNP,SNVindel,exonic,GFY,NA,nonsynonymous SNV,GFY:NM_001195256:exon1:c.C1036T:p.P346S,.,.,.,.,.,.
chr19,49930729,49930729,C,T,R007_S,GFY,Missense_Mutation,NM_001195256,exon1,c.C1042T,p.P348S,SNP,SNVindel,exonic,GFY,NA,nonsynonymous SNV,GFY:NM_001195256:exon1:c.C1042T:p.P348S,.,.,.,.,.,.
chr19,49934055,49934055,C,T,R007_S,SLC17A7,Nonsense_Mutation,NM_020309,exon12,c.G1404A,p.W468X,SNP,SNVindel,exonic,SLC17A7,NA,stopgain,SLC17A7:NM_020309:exon12:c.G1404A:p.W468X,.,D,D,.,.,.
chr19,49982251,49982251,C,T,R007_S,FLT3LG,Missense_Mutation,NM_001204503,exon5,c.C428T,p.P143L,SNP,SNVindel,exonic,FLT3LG,NA,nonsynonymous SNV,"FLT3LG:NM_001204503:exon5:c.C428T:p.P143L,FLT3LG:NM_001204502:exon6:c.C428T:p.P143L,FLT3LG:NM_001278637:exon6:c.C182T:p.P61L,FLT3LG:NM_001278638:exon6:c.C182T:p.P61L,FLT3LG:NM_001459:exon6:c.C428T:p.P143L",.,N,D,.,.,T
chr19,50017245,50017245,C,T,R007_S,FCGRT,Silent,NM_004107,exon2,c.C180T,p.S60S,SNP,SNVindel,exonic,FCGRT,NA,synonymous SNV,"FCGRT:NM_004107:exon2:c.C180T:p.S60S,FCGRT:NM_001136019:exon3:c.C180T:p.S60S",NA,NA,NA,NA,NA,NA
chr19,50086561,50086561,G,A,R007_S,PRRG2,Missense_Mutation,NM_000951,exon2,c.G85A,p.E29K,SNP,SNVindel,exonic,PRRG2,NA,nonsynonymous SNV,PRRG2:NM_000951:exon2:c.G85A:p.E29K,D,N,D,D,N,D
chr19,50098065,50098065,G,A,R007_S,PRR12,Missense_Mutation,NM_020719,exon4,c.G473A,p.G158D,SNP,SNVindel,exonic,PRR12,NA,nonsynonymous SNV,PRR12:NM_020719:exon4:c.G473A:p.G158D,D,.,N,.,N,T
chr19,50100625,50100625,C,T,R007_S,PRR12,Silent,NM_020719,exon4,c.C3033T,p.D1011D,SNP,SNVindel,exonic,PRR12,NA,synonymous SNV,PRR12:NM_020719:exon4:c.C3033T:p.D1011D,NA,NA,NA,NA,NA,NA
chr19,50100852,50100852,C,T,R007_S,PRR12,Missense_Mutation,NM_020719,exon4,c.C3260T,p.P1087L,SNP,SNVindel,exonic,PRR12,NA,nonsynonymous SNV,PRR12:NM_020719:exon4:c.C3260T:p.P1087L,D,D,D,.,D,T
chr19,50102655,50102655,G,A,R007_S,PRR12,Missense_Mutation,NM_020719,exon5,c.G3805A,p.E1269K,SNP,SNVindel,exonic,PRR12,NA,nonsynonymous SNV,PRR12:NM_020719:exon5:c.G3805A:p.E1269K,D,N,D,.,N,T
chr19,50139890,50139890,C,T,R007_S,RRAS,Missense_Mutation,NM_006270,exon4,c.G439A,p.E147K,SNP,SNVindel,exonic,RRAS,NA,nonsynonymous SNV,RRAS:NM_006270:exon4:c.G439A:p.E147K,T,D,D,T,D,T
chr19,50168030,50168030,C,T,R007_S,IRF3,Silent,NM_001197122,exon2,c.G66A,p.E22E,SNP,SNVindel,exonic,IRF3,NA,synonymous SNV,"IRF3:NM_001197122:exon2:c.G66A:p.E22E,IRF3:NM_001197124:exon2:c.G66A:p.E22E,IRF3:NM_001571:exon2:c.G66A:p.E22E",NA,NA,NA,NA,NA,NA
chr19,50265310,50265310,G,A,R007_S,TSKS,Missense_Mutation,NM_021733,exon2,c.C350T,p.S117F,SNP,SNVindel,exonic,TSKS,NA,nonsynonymous SNV,TSKS:NM_021733:exon2:c.C350T:p.S117F,D,N,N,T,D,T
chr19,50360294,50360294,C,T,R007_S,PTOV1,Silent,NM_001305105,exon6,c.C621T,p.Y207Y,SNP,SNVindel,exonic,PTOV1,NA,synonymous SNV,"PTOV1:NM_001305105:exon6:c.C621T:p.Y207Y,PTOV1:NM_001305108:exon6:c.C525T:p.Y175Y,PTOV1:NM_001364745:exon6:c.C525T:p.Y175Y,PTOV1:NM_001364747:exon6:c.C666T:p.Y222Y,PTOV1:NM_001364748:exon6:c.C198T:p.Y66Y,PTOV1:NM_001364749:exon6:c.C666T:p.Y222Y,PTOV1:NM_001364750:exon6:c.C198T:p.Y66Y,PTOV1:NM_017432:exon6:c.C621T:p.Y207Y",NA,NA,NA,NA,NA,NA
chr19,50376396,50376396,C,T,R007_S,AKT1S1,Missense_Mutation,NM_001098632,exon2,c.G157A,p.A53T,SNP,SNVindel,exonic,AKT1S1,NA,nonsynonymous SNV,"AKT1S1:NM_001098632:exon2:c.G157A:p.A53T,AKT1S1:NM_001098633:exon2:c.G157A:p.A53T,AKT1S1:NM_001278159:exon2:c.G157A:p.A53T,AKT1S1:NM_001278160:exon2:c.G157A:p.A53T,AKT1S1:NM_032375:exon2:c.G217A:p.A73T",T,N,N,T,N,T
chr19,50391052,50391052,C,T,R007_S,TBC1D17,Silent,NM_001168222,exon14,c.C1521T,p.T507T,SNP,SNVindel,exonic,TBC1D17,NA,synonymous SNV,"TBC1D17:NM_001168222:exon14:c.C1521T:p.T507T,TBC1D17:NM_024682:exon15:c.C1620T:p.T540T",NA,NA,NA,NA,NA,NA
chr19,50399293,50399293,G,A,R007_S,IL4I1,Missense_Mutation,NM_152899,exon3,c.C31T,p.L11F,SNP,SNVindel,exonic,IL4I1,NA,nonsynonymous SNV,"IL4I1:NM_152899:exon3:c.C31T:p.L11F,IL4I1:NM_001258017:exon5:c.C97T:p.L33F,IL4I1:NM_001258018:exon5:c.C97T:p.L33F,IL4I1:NM_172374:exon5:c.C97T:p.L33F",D,N,N,T,N,T
chr19,50764791,50764791,C,T,R007_S,MYH14,Silent,NM_024729,exon19,c.C2361T,p.F787F,SNP,SNVindel,exonic,MYH14,NA,synonymous SNV,"MYH14:NM_024729:exon19:c.C2361T:p.F787F,MYH14:NM_001077186:exon20:c.C2385T:p.F795F,MYH14:NM_001145809:exon21:c.C2484T:p.F828F",NA,NA,NA,NA,NA,NA
chr19,50785066,50785066,C,T,R007_S,MYH14,Silent,NM_024729,exon31,c.C4383T,p.S1461S,SNP,SNVindel,exonic,MYH14,NA,synonymous SNV,"MYH14:NM_024729:exon31:c.C4383T:p.S1461S,MYH14:NM_001077186:exon32:c.C4407T:p.S1469S,MYH14:NM_001145809:exon33:c.C4506T:p.S1502S",NA,NA,NA,NA,NA,NA
chr19,50832094,50832094,G,A,R007_S,KCNC3,Silent,NM_004977,exon1,c.C246T,p.G82G,SNP,SNVindel,exonic,KCNC3,NA,synonymous SNV,KCNC3:NM_004977:exon1:c.C246T:p.G82G,NA,NA,NA,NA,NA,NA
chr19,51015738,51015738,C,T,R007_S,ASPDH,Missense_Mutation,NM_001024656,exon3,c.G217A,p.G73S,SNP,SNVindel,exonic,ASPDH,NA,nonsynonymous SNV,"ASPDH:NM_001024656:exon3:c.G217A:p.G73S,ASPDH:NM_001114598:exon5:c.G532A:p.G178S",D,D,D,T,D,D
chr19,51021482,51021482,C,T,R007_S,LRRC4B,Silent,NM_001080457,exon3,c.G1488A,p.E496E,SNP,SNVindel,exonic,LRRC4B,NA,synonymous SNV,"LRRC4B:NM_001080457:exon3:c.G1488A:p.E496E,LRRC4B:NM_001348568:exon3:c.G1488A:p.E496E",NA,NA,NA,NA,NA,NA
chr19,51022636,51022636,G,A,R007_S,LRRC4B,Silent,NM_001080457,exon3,c.C334T,p.L112L,SNP,SNVindel,exonic,LRRC4B,NA,synonymous SNV,"LRRC4B:NM_001080457:exon3:c.C334T:p.L112L,LRRC4B:NM_001348568:exon3:c.C334T:p.L112L",NA,NA,NA,NA,NA,NA
chr19,51052082,51052082,C,T,R007_S,LRRC4B,Missense_Mutation,NM_001080457,exon2,c.G14A,p.R5H,SNP,SNVindel,exonic,LRRC4B,NA,nonsynonymous SNV,"LRRC4B:NM_001080457:exon2:c.G14A:p.R5H,LRRC4B:NM_001348568:exon2:c.G14A:p.R5H",T,.,N,T,N,T
chr19,51169896,51169896,C,T,R007_S,SHANK1,Missense_Mutation,NM_016148,exon23,c.G5321A,p.G1774E,SNP,SNVindel,exonic,SHANK1,NA,nonsynonymous SNV,SHANK1:NM_016148:exon23:c.G5321A:p.G1774E,D,U,D,T,N,T
chr19,51217526,51217526,C,T,R007_S,SHANK1,Missense_Mutation,NM_016148,exon5,c.G553A,p.E185K,SNP,SNVindel,exonic,SHANK1,NA,nonsynonymous SNV,SHANK1:NM_016148:exon5:c.G553A:p.E185K,D,U,D,T,D,T
chr19,51453215,51453215,G,A,R007_S,KLK5,Silent,NM_001077492,exon3,c.C231T,p.T77T,SNP,SNVindel,exonic,KLK5,NA,synonymous SNV,"KLK5:NM_001077492:exon3:c.C231T:p.T77T,KLK5:NM_012427:exon3:c.C231T:p.T77T,KLK5:NM_001077491:exon4:c.C231T:p.T77T",NA,NA,NA,NA,NA,NA
chr19,51646004,51646004,G,A,R007_S,SIGLEC7,Silent,NM_001277201,exon1,c.G378A,p.E126E,SNP,SNVindel,exonic,SIGLEC7,NA,synonymous SNV,"SIGLEC7:NM_001277201:exon1:c.G378A:p.E126E,SIGLEC7:NM_014385:exon1:c.G378A:p.E126E,SIGLEC7:NM_016543:exon1:c.G378A:p.E126E",NA,NA,NA,NA,NA,NA
chr19,52004693,52004693,G,A,R007_S,SIGLEC12,Missense_Mutation,NM_053003,exon1,c.C295T,p.P99S,SNP,SNVindel,exonic,SIGLEC12,NA,nonsynonymous SNV,SIGLEC12:NM_053003:exon1:c.C295T:p.P99S,T,.,N,T,N,T
chr19,52196818,52196818,C,T,R007_S,SPACA6,Silent,NM_001316972,exon1,c.C39T,p.A13A,SNP,SNVindel,exonic,SPACA6,NA,synonymous SNV,SPACA6:NM_001316972:exon1:c.C39T:p.A13A,NA,NA,NA,NA,NA,NA
chr19,52216818,52216818,G,A,R007_S,HAS1,Silent,NM_001297436,exon5,c.C1596T,p.S532S,SNP,SNVindel,exonic,HAS1,NA,synonymous SNV,"HAS1:NM_001297436:exon5:c.C1596T:p.S532S,HAS1:NM_001523:exon5:c.C1599T:p.S533S",NA,NA,NA,NA,NA,NA
chr19,52220419,52220419,G,A,R007_S,HAS1,Missense_Mutation,NM_001297436,exon3,c.C727T,p.P243S,SNP,SNVindel,exonic,HAS1,NA,nonsynonymous SNV,"HAS1:NM_001297436:exon3:c.C727T:p.P243S,HAS1:NM_001523:exon3:c.C730T:p.P244S",D,U,D,T,D,T
chr19,52249549,52249549,C,T,R007_S,FPR1,Silent,NM_002029,exon2,c.G699A,p.L233L,SNP,SNVindel,exonic,FPR1,NA,synonymous SNV,"FPR1:NM_002029:exon2:c.G699A:p.L233L,FPR1:NM_001193306:exon3:c.G699A:p.L233L",NA,NA,NA,NA,NA,NA
chr19,52327928,52327928,C,T,R007_S,FPR3,Silent,NM_002030,exon2,c.C927T,p.F309F,SNP,SNVindel,exonic,FPR3,NA,synonymous SNV,FPR3:NM_002030:exon2:c.C927T:p.F309F,NA,NA,NA,NA,NA,NA
chr19,52376299,52376299,C,T,R007_S,ZNF577,Missense_Mutation,NM_001370449,exon6,c.G944A,p.R315K,SNP,SNVindel,exonic,ZNF577,NA,nonsynonymous SNV,"ZNF577:NM_001370449:exon6:c.G944A:p.R315K,ZNF577:NM_001370450:exon6:c.G767A:p.R256K,ZNF577:NM_001135590:exon7:c.G767A:p.R256K,ZNF577:NM_001370447:exon7:c.G944A:p.R315K,ZNF577:NM_001370448:exon7:c.G944A:p.R315K,ZNF577:NM_032679:exon7:c.G944A:p.R315K",T,.,N,T,N,T
chr19,52448239,52448239,G,A,R007_S,ZNF613,Missense_Mutation,NM_001031721,exon6,c.G1103A,p.G368E,SNP,SNVindel,exonic,ZNF613,NA,nonsynonymous SNV,"ZNF613:NM_001031721:exon6:c.G1103A:p.G368E,ZNF613:NM_024840:exon6:c.G995A:p.G332E",D,N,D,T,D,T
chr19,52505468,52505468,C,T,R007_S,ZNF615,Missense_Mutation,NM_001321317,exon2,c.G97A,p.A33T,SNP,SNVindel,exonic,ZNF615,NA,nonsynonymous SNV,"ZNF615:NM_001321317:exon2:c.G97A:p.A33T,ZNF615:NM_001321323:exon2:c.G97A:p.A33T,ZNF615:NM_001321318:exon3:c.G70A:p.A24T,ZNF615:NM_001321319:exon3:c.G82A:p.A28T,ZNF615:NM_001321320:exon3:c.G82A:p.A28T,ZNF615:NM_001321321:exon3:c.G82A:p.A28T,ZNF615:NM_001321322:exon3:c.G82A:p.A28T,ZNF615:NM_001199324:exon4:c.G82A:p.A28T,ZNF615:NM_198480:exon4:c.G82A:p.A28T",T,.,N,T,N,T
chr19,52520535,52520535,C,T,R007_S,ZNF614,Missense_Mutation,NM_025040,exon5,c.G316A,p.G106R,SNP,SNVindel,exonic,ZNF614,NA,nonsynonymous SNV,ZNF614:NM_025040:exon5:c.G316A:p.G106R,T,.,N,T,N,T
chr19,52568906,52568906,C,T,R007_S,ZNF841,Silent,NM_001369830,exon3,c.G1881A,p.G627G,SNP,SNVindel,exonic,ZNF841,NA,synonymous SNV,"ZNF841:NM_001369830:exon3:c.G1881A:p.G627G,ZNF841:NM_001321349:exon5:c.G1881A:p.G627G,ZNF841:NM_001369826:exon5:c.G2229A:p.G743G,ZNF841:NM_001352298:exon6:c.G2229A:p.G743G,ZNF841:NM_001352299:exon6:c.G2229A:p.G743G,ZNF841:NM_001369825:exon6:c.G2232A:p.G744G,ZNF841:NM_001369828:exon6:c.G2229A:p.G743G,ZNF841:NM_001136499:exon7:c.G2229A:p.G743G,ZNF841:NM_001369827:exon7:c.G2229A:p.G743G,ZNF841:NM_001369829:exon7:c.G2229A:p.G743G",NA,NA,NA,NA,NA,NA
chr19,52570828,52570828,G,A,R007_S,ZNF841,Missense_Mutation,NM_001369826,exon5,c.C307T,p.P103S,SNP,SNVindel,exonic,ZNF841,NA,nonsynonymous SNV,"ZNF841:NM_001369826:exon5:c.C307T:p.P103S,ZNF841:NM_001352298:exon6:c.C307T:p.P103S,ZNF841:NM_001352299:exon6:c.C307T:p.P103S,ZNF841:NM_001369825:exon6:c.C310T:p.P104S,ZNF841:NM_001369828:exon6:c.C307T:p.P103S,ZNF841:NM_001136499:exon7:c.C307T:p.P103S,ZNF841:NM_001369827:exon7:c.C307T:p.P103S,ZNF841:NM_001369829:exon7:c.C307T:p.P103S",T,.,N,T,N,T
chr19,52659889,52659889,C,T,R007_S,ZNF836,Silent,NM_001102657,exon5,c.G1047A,p.Q349Q,SNP,SNVindel,exonic,ZNF836,NA,synonymous SNV,ZNF836:NM_001102657:exon5:c.G1047A:p.Q349Q,NA,NA,NA,NA,NA,NA
chr19,52825527,52825527,C,T,R007_S,ZNF480,Missense_Mutation,NM_001297624,exon4,c.C895T,p.P299S,SNP,SNVindel,exonic,ZNF480,NA,nonsynonymous SNV,"ZNF480:NM_001297624:exon4:c.C895T:p.P299S,ZNF480:NM_001297625:exon4:c.C793T:p.P265S,ZNF480:NM_144684:exon5:c.C1024T:p.P342S",D,.,D,T,D,T
chr19,52869638,52869638,G,A,R007_S,ZNF610,Missense_Mutation,NM_001161427,exon5,c.G878A,p.R293K,SNP,SNVindel,exonic,ZNF610,NA,nonsynonymous SNV,"ZNF610:NM_001161427:exon5:c.G878A:p.R293K,ZNF610:NM_001161425:exon6:c.G1007A:p.R336K,ZNF610:NM_001161426:exon6:c.G1007A:p.R336K,ZNF610:NM_173530:exon6:c.G1007A:p.R336K",T,.,N,T,N,T
chr19,53085906,53085906,G,A,R007_S,ZNF701,Silent,NM_018260,exon4,c.G594A,p.Q198Q,SNP,SNVindel,exonic,ZNF701,NA,synonymous SNV,"ZNF701:NM_018260:exon4:c.G594A:p.Q198Q,ZNF701:NM_001172655:exon5:c.G792A:p.Q264Q",NA,NA,NA,NA,NA,NA
chr19,53208987,53208987,G,A,R007_S,ZNF611,Missense_Mutation,NM_001161500,exon5,c.C1321T,p.L441F,SNP,SNVindel,exonic,ZNF611,NA,nonsynonymous SNV,"ZNF611:NM_001161500:exon5:c.C1321T:p.L441F,ZNF611:NM_001161501:exon5:c.C1114T:p.L372F,ZNF611:NM_001161499:exon6:c.C1321T:p.L441F,ZNF611:NM_030972:exon7:c.C1321T:p.L441F",D,.,N,T,D,T
chr19,53459319,53459319,C,T,R007_S,ZNF816,Silent,NM_001202456,exon2,c.G24A,p.K8K,SNP,SNVindel,exonic,ZNF816;ZNF816-ZNF321P,NA,synonymous SNV,"ZNF816:NM_001202456:exon2:c.G24A:p.K8K,ZNF816:NM_001202457:exon2:c.G24A:p.K8K,ZNF816-ZNF321P:NM_001202473:exon2:c.G24A:p.K8K,ZNF816:NM_001031665:exon3:c.G24A:p.K8K",NA,NA,NA,NA,NA,NA
chr19,53644316,53644316,C,T,R007_S,ZNF347,Missense_Mutation,NM_001172674,exon5,c.G1768A,p.G590R,SNP,SNVindel,exonic,ZNF347,NA,nonsynonymous SNV,"ZNF347:NM_001172674:exon5:c.G1768A:p.G590R,ZNF347:NM_001172675:exon5:c.G1768A:p.G590R,ZNF347:NM_032584:exon5:c.G1765A:p.G589R",T,.,N,T,N,T
chr19,53770594,53770594,C,T,R007_S,VN1R4,Missense_Mutation,NM_173857,exon1,c.G325A,p.V109I,SNP,SNVindel,exonic,VN1R4,NA,nonsynonymous SNV,VN1R4:NM_173857:exon1:c.G325A:p.V109I,T,N,N,T,N,T
chr19,54074903,54074903,G,A,R007_S,ZNF331,Missense_Mutation,NM_001253801,exon4,c.G55A,p.E19K,SNP,SNVindel,exonic,ZNF331,NA,nonsynonymous SNV,"ZNF331:NM_001253801:exon4:c.G55A:p.E19K,ZNF331:NM_001317113:exon4:c.G55A:p.E19K,ZNF331:NM_001317116:exon4:c.G55A:p.E19K,ZNF331:NM_001317119:exon4:c.G55A:p.E19K,ZNF331:NM_001317121:exon4:c.G55A:p.E19K,ZNF331:NM_001079906:exon5:c.G55A:p.E19K,ZNF331:NM_001079907:exon5:c.G55A:p.E19K,ZNF331:NM_001253799:exon5:c.G55A:p.E19K,ZNF331:NM_001253800:exon5:c.G55A:p.E19K,ZNF331:NM_001317114:exon5:c.G55A:p.E19K,ZNF331:NM_001317117:exon5:c.G55A:p.E19K,ZNF331:NM_001317118:exon5:c.G55A:p.E19K,ZNF331:NM_001253798:exon6:c.G55A:p.E19K,ZNF331:NM_001317115:exon6:c.G55A:p.E19K,ZNF331:NM_001317120:exon6:c.G55A:p.E19K,ZNF331:NM_018555:exon6:c.G55A:p.E19K",D,.,N,T,D,T
chr19,54314468,54314468,C,T,R007_S,NLRP12,Missense_Mutation,NM_001277126,exon3,c.G445A,p.E149K,SNP,SNVindel,exonic,NLRP12,NA,nonsynonymous SNV,"NLRP12:NM_001277126:exon3:c.G445A:p.E149K,NLRP12:NM_001277129:exon3:c.G445A:p.E149K,NLRP12:NM_144687:exon3:c.G445A:p.E149K",T,D,N,D,N,D
chr19,54403679,54403679,C,T,R007_S,PRKCG,Silent,NM_001316329,exon13,c.C1380T,p.Y460Y,SNP,SNVindel,exonic,PRKCG,NA,synonymous SNV,"PRKCG:NM_001316329:exon13:c.C1380T:p.Y460Y,PRKCG:NM_002739:exon13:c.C1380T:p.Y460Y",NA,NA,NA,NA,NA,NA
chr19,54561974,54561974,C,T,R007_S,VSTM1,Missense_Mutation,NM_001288792,exon2,c.G47A,p.G16D,SNP,SNVindel,exonic,VSTM1,NA,nonsynonymous SNV,"VSTM1:NM_001288792:exon2:c.G47A:p.G16D,VSTM1:NM_198481:exon2:c.G47A:p.G16D",D,N,D,T,D,T
chr19,54578157,54578157,C,T,R007_S,TARM1,Missense_Mutation,NM_001135686,exon3,c.G280A,p.E94K,SNP,SNVindel,exonic,TARM1,NA,nonsynonymous SNV,"TARM1:NM_001135686:exon3:c.G280A:p.E94K,TARM1:NM_001330650:exon4:c.G304A:p.E102K",T,.,N,T,N,T
chr19,54625896,54625896,C,T,R007_S,PRPF31,Missense_Mutation,NM_015629,exon5,c.C343T,p.R115W,SNP,SNVindel,exonic,PRPF31,NA,nonsynonymous SNV,PRPF31:NM_015629:exon5:c.C343T:p.R115W,D,D,D,D,D,D
chr19,54652034,54652034,C,T,R007_S,CNOT3,Missense_Mutation,NM_014516,exon11,c.C1046T,p.P349L,SNP,SNVindel,exonic,CNOT3,NA,nonsynonymous SNV,CNOT3:NM_014516:exon11:c.C1046T:p.P349L,T,U,N,T,N,T
chr19,54659105,54659105,C,T,R007_S,CNOT3,Missense_Mutation,NM_014516,exon18,c.C2222T,p.T741I,SNP,SNVindel,exonic,CNOT3,NA,nonsynonymous SNV,CNOT3:NM_014516:exon18:c.C2222T:p.T741I,D,D,D,T,D,T
chr19,54677788,54677788,C,T,R007_S,MBOAT7,Missense_Mutation,NM_001146056,exon6,c.G1150A,p.A384T,SNP,SNVindel,exonic,MBOAT7,NA,nonsynonymous SNV,"MBOAT7:NM_001146056:exon6:c.G1150A:p.A384T,MBOAT7:NM_001146083:exon7:c.G1150A:p.A384T,MBOAT7:NM_024298:exon8:c.G1369A:p.A457T",T,N,N,T,N,T
chr19,54744323,54744323,G,A,R007_S,LILRA6,Missense_Mutation,NM_001081450,exon6,c.C1085T,p.A362V,SNP,SNVindel,exonic,LILRA6;LILRB3,NA,nonsynonymous SNV,"LILRB3:NM_001081450:exon6:c.C1085T:p.A362V,LILRB3:NM_001320960:exon6:c.C1085T:p.A362V,LILRA6:NM_001360167:exon6:c.C1085T:p.A362V,LILRB3:NM_006864:exon6:c.C1085T:p.A362V,LILRA6:NM_024318:exon6:c.C1076T:p.A359V",D,N,N,T,D,T
chr19,54759409,54759409,C,T,R007_S,LILRB5,Missense_Mutation,NM_001081443,exon4,c.G392A,p.G131D,SNP,SNVindel,exonic,LILRB5,NA,nonsynonymous SNV,"LILRB5:NM_001081443:exon4:c.G392A:p.G131D,LILRB5:NM_001081442:exon5:c.G692A:p.G231D,LILRB5:NM_006840:exon5:c.G692A:p.G231D",D,N,N,T,D,T
chr19,54802179,54802179,C,T,R007_S,LILRA3,Missense_Mutation,NM_001172654,exon6,c.G817A,p.A273T,SNP,SNVindel,exonic,LILRA3,NA,nonsynonymous SNV,"LILRA3:NM_001172654:exon6:c.G817A:p.A273T,LILRA3:NM_006865:exon6:c.G1009A:p.A337T",NA,NA,NA,NA,NA,NA
chr19,54823369,54823369,G,A,R007_S,LILRA5,Silent,NM_181985,exon3,c.C138T,p.S46S,SNP,SNVindel,exonic,LILRA5,NA,synonymous SNV,"LILRA5:NM_181985:exon3:c.C138T:p.S46S,LILRA5:NM_181986:exon3:c.C138T:p.S46S,LILRA5:NM_021250:exon4:c.C174T:p.S58S,LILRA5:NM_181879:exon4:c.C174T:p.S58S",NA,NA,NA,NA,NA,NA
chr19,54969287,54969287,C,T,R007_S,LENG8,Silent,NM_052925,exon14,c.C1908T,p.D636D,SNP,SNVindel,exonic,LENG8,NA,synonymous SNV,LENG8:NM_052925:exon14:c.C1908T:p.D636D,NA,NA,NA,NA,NA,NA
chr19,55085853,55085853,C,T,R007_S,LILRA2,Silent,NM_001290270,exon2,c.C120T,p.S40S,SNP,SNVindel,exonic,LILRA2,NA,synonymous SNV,"LILRA2:NM_001290270:exon2:c.C120T:p.S40S,LILRA2:NM_001130917:exon3:c.C156T:p.S52S,LILRA2:NM_001290271:exon4:c.C156T:p.S52S,LILRA2:NM_006866:exon4:c.C156T:p.S52S",NA,NA,NA,NA,NA,NA
chr19,55086928,55086928,C,T,R007_S,LILRA2,Silent,NM_001290270,exon4,c.C825T,p.P275P,SNP,SNVindel,exonic,LILRA2,NA,synonymous SNV,"LILRA2:NM_001290270:exon4:c.C825T:p.P275P,LILRA2:NM_001130917:exon5:c.C861T:p.P287P,LILRA2:NM_001290271:exon6:c.C861T:p.P287P,LILRA2:NM_006866:exon6:c.C861T:p.P287P",NA,NA,NA,NA,NA,NA
chr19,55110748,55110748,G,A,R007_S,LILRA1,Missense_Mutation,NM_001278318,exon6,c.G709A,p.A237T,SNP,SNVindel,exonic,LILRA1,NA,nonsynonymous SNV,"LILRA1:NM_001278318:exon6:c.G709A:p.A237T,LILRA1:NM_001278319:exon7:c.G1309A:p.A437T,LILRA1:NM_006863:exon8:c.G1309A:p.A437T",T,.,N,T,N,T
chr19,55143010,55143010,C,T,R007_S,LILRB1,Missense_Mutation,NM_001081637,exon4,c.C130T,p.P44S,SNP,SNVindel,exonic,LILRB1,NA,nonsynonymous SNV,"LILRB1:NM_001081637:exon4:c.C130T:p.P44S,LILRB1:NM_001081638:exon4:c.C130T:p.P44S,LILRB1:NM_001081639:exon4:c.C130T:p.P44S,LILRB1:NM_001278398:exon4:c.C130T:p.P44S,LILRB1:NM_001278399:exon4:c.C130T:p.P44S,LILRB1:NM_006669:exon5:c.C130T:p.P44S",T,N,N,T,D,T
chr19,55148260,55148260,G,A,R007_S,LILRB1,Silent,NM_001278398,exon14,c.G1836A,p.E612E,SNP,SNVindel,exonic,LILRB1,NA,synonymous SNV,"LILRB1:NM_001278398:exon14:c.G1836A:p.E612E,LILRB1:NM_001081637:exon15:c.G1890A:p.E630E,LILRB1:NM_001081638:exon15:c.G1887A:p.E629E,LILRB1:NM_001081639:exon15:c.G1887A:p.E629E,LILRB1:NM_006669:exon16:c.G1884A:p.E628E",NA,NA,NA,NA,NA,NA
chr19,55451617,55451617,C,T,R007_S,NLRP7,Silent,NM_001127255,exon4,c.G570A,p.K190K,SNP,SNVindel,exonic,NLRP7,NA,synonymous SNV,"NLRP7:NM_001127255:exon4:c.G570A:p.K190K,NLRP7:NM_139176:exon4:c.G570A:p.K190K,NLRP7:NM_206828:exon4:c.G570A:p.K190K",NA,NA,NA,NA,NA,NA
chr19,55501543,55501543,C,T,R007_S,NLRP2,Silent,NM_001174082,exon8,c.C2454T,p.C818C,SNP,SNVindel,exonic,NLRP2,NA,synonymous SNV,"NLRP2:NM_001174082:exon8:c.C2454T:p.C818C,NLRP2:NM_001174081:exon9:c.C2520T:p.C840C,NLRP2:NM_001348003:exon9:c.C2511T:p.C837C,NLRP2:NM_017852:exon9:c.C2520T:p.C840C,NLRP2:NM_001174083:exon10:c.C2451T:p.C817C",NA,NA,NA,NA,NA,NA
chr19,55711636,55711636,C,T,R007_S,PTPRH,Missense_Mutation,NM_001161440,exon5,c.G854A,p.R285H,SNP,SNVindel,exonic,PTPRH,NA,nonsynonymous SNV,"PTPRH:NM_001161440:exon5:c.G854A:p.R285H,PTPRH:NM_002842:exon7:c.G1388A:p.R463H",T,.,N,T,N,T
chr19,55871266,55871266,G,A,R007_S,FAM71E2,Missense_Mutation,NM_001145402,exon9,c.C970T,p.P324S,SNP,SNVindel,exonic,FAM71E2,NA,nonsynonymous SNV,FAM71E2:NM_001145402:exon9:c.C970T:p.P324S,T,.,N,T,N,T
chr19,55880163,55880163,C,T,R007_S,IL11,Missense_Mutation,NM_000641,exon2,c.G154A,p.D52N,SNP,SNVindel,exonic,IL11,NA,nonsynonymous SNV,IL11:NM_000641:exon2:c.G154A:p.D52N,T,D,D,T,N,T
chr19,55888384,55888384,C,T,R007_S,TMEM190,Silent,NM_139172,exon2,c.C84T,p.F28F,SNP,SNVindel,exonic,TMEM190,NA,synonymous SNV,TMEM190:NM_139172:exon2:c.C84T:p.F28F,NA,NA,NA,NA,NA,NA
chr19,55994328,55994328,G,A,R007_S,ZNF628,Missense_Mutation,NM_033113,exon3,c.G1768A,p.G590S,SNP,SNVindel,exonic,ZNF628,NA,nonsynonymous SNV,ZNF628:NM_033113:exon3:c.G1768A:p.G590S,.,U,D,T,.,T
chr19,55995275,55995275,C,T,R007_S,ZNF628,Silent,NM_033113,exon3,c.C2715T,p.G905G,SNP,SNVindel,exonic,ZNF628,NA,synonymous SNV,ZNF628:NM_033113:exon3:c.C2715T:p.G905G,NA,NA,NA,NA,NA,NA
chr19,56009441,56009441,G,A,R007_S,SSC5D,Missense_Mutation,NM_001144950,exon9,c.G1582A,p.G528S,SNP,SNVindel,exonic,SSC5D,NA,nonsynonymous SNV,"SSC5D:NM_001144950:exon9:c.G1582A:p.G528S,SSC5D:NM_001195267:exon9:c.G1582A:p.G528S",D,N,D,T,D,D
chr19,56041620,56041620,G,A,R007_S,SBK2,Missense_Mutation,NM_001370096,exon4,c.C527T,p.A176V,SNP,SNVindel,exonic,SBK2,NA,nonsynonymous SNV,SBK2:NM_001370096:exon4:c.C527T:p.A176V,D,N,N,T,N,T
chr19,56052325,56052325,G,A,R007_S,SBK3,Missense_Mutation,NM_001199824,exon5,c.C967T,p.P323S,SNP,SNVindel,exonic,SBK3,NA,nonsynonymous SNV,SBK3:NM_001199824:exon5:c.C967T:p.P323S,.,.,.,.,.,.
chr19,56113619,56113619,G,A,R007_S,ZNF524,Silent,NM_153219,exon2,c.G141A,p.K47K,SNP,SNVindel,exonic,ZNF524,NA,synonymous SNV,ZNF524:NM_153219:exon2:c.G141A:p.K47K,NA,NA,NA,NA,NA,NA
chr19,56127944,56127944,C,T,R007_S,ZNF865,Missense_Mutation,NM_001195605,exon1,c.C2960T,p.P987L,SNP,SNVindel,exonic,ZNF865,NA,nonsynonymous SNV,ZNF865:NM_001195605:exon1:c.C2960T:p.P987L,D,.,D,T,D,.
chr19,56174974,56174974,C,T,R007_S,U2AF2,Silent,NM_001012478,exon7,c.C606T,p.F202F,SNP,SNVindel,exonic,U2AF2,NA,synonymous SNV,"U2AF2:NM_001012478:exon7:c.C606T:p.F202F,U2AF2:NM_007279:exon7:c.C606T:p.F202F",NA,NA,NA,NA,NA,NA
chr19,56244423,56244423,G,A,R007_S,NLRP9,Silent,NM_176820,exon2,c.C774T,p.S258S,SNP,SNVindel,exonic,NLRP9,NA,synonymous SNV,NLRP9:NM_176820:exon2:c.C774T:p.S258S,NA,NA,NA,NA,NA,NA
chr19,56466183,56466183,C,T,R007_S,NLRP8,Silent,NM_001317000,exon3,c.C759T,p.D253D,SNP,SNVindel,exonic,NLRP8,NA,synonymous SNV,"NLRP8:NM_001317000:exon3:c.C759T:p.D253D,NLRP8:NM_176811:exon3:c.C759T:p.D253D",NA,NA,NA,NA,NA,NA
chr19,56599469,56599469,C,T,R007_S,ZNF787,Missense_Mutation,NM_001002836,exon3,c.G1072A,p.G358S,SNP,SNVindel,exonic,ZNF787,NA,nonsynonymous SNV,ZNF787:NM_001002836:exon3:c.G1072A:p.G358S,.,.,N,.,.,T
chr19,56671193,56671193,G,A,R007_S,ZNF444,Missense_Mutation,NM_001253792,exon5,c.G604A,p.G202S,SNP,SNVindel,exonic,ZNF444,NA,nonsynonymous SNV,"ZNF444:NM_001253792:exon5:c.G604A:p.G202S,ZNF444:NM_018337:exon5:c.G607A:p.G203S",D,N,N,T,D,T
chr19,56704363,56704363,G,A,R007_S,ZSCAN5B,Missense_Mutation,NM_001080456,exon1,c.C59T,p.S20L,SNP,SNVindel,exonic,ZSCAN5B,NA,nonsynonymous SNV,ZSCAN5B:NM_001080456:exon1:c.C59T:p.S20L,T,.,N,T,N,T
chr19,56952794,56952794,C,T,R007_S,ZNF667,Missense_Mutation,NM_022103,exon5,c.G1570A,p.E524K,SNP,SNVindel,exonic,ZNF667,NA,nonsynonymous SNV,"ZNF667:NM_022103:exon5:c.G1570A:p.E524K,ZNF667:NM_001321355:exon6:c.G1399A:p.E467K,ZNF667:NM_001321356:exon7:c.G1570A:p.E524K",D,N,D,T,D,T
chr19,56952849,56952849,C,T,R007_S,ZNF667,Silent,NM_022103,exon5,c.G1515A,p.G505G,SNP,SNVindel,exonic,ZNF667,NA,synonymous SNV,"ZNF667:NM_022103:exon5:c.G1515A:p.G505G,ZNF667:NM_001321355:exon6:c.G1344A:p.G448G,ZNF667:NM_001321356:exon7:c.G1515A:p.G505G",NA,NA,NA,NA,NA,NA
chr19,57326181,57326181,C,T,R007_S,PEG3,Missense_Mutation,NM_001369735,exon8,c.G3164A,p.R1055K,SNP,SNVindel,exonic,PEG3,NA,nonsynonymous SNV,"PEG3:NM_001369735:exon8:c.G3164A:p.R1055K,PEG3:NM_001369736:exon8:c.G3164A:p.R1055K,PEG3:NM_001146184:exon9:c.G3629A:p.R1210K,PEG3:NM_001146185:exon9:c.G3251A:p.R1084K,PEG3:NM_001146187:exon9:c.G3257A:p.R1086K,PEG3:NM_001369717:exon9:c.G3635A:p.R1212K,PEG3:NM_001369719:exon9:c.G3542A:p.R1181K,PEG3:NM_001369721:exon9:c.G3257A:p.R1086K,PEG3:NM_001369725:exon9:c.G3257A:p.R1086K,PEG3:NM_001369733:exon9:c.G3257A:p.R1086K,PEG3:NM_001369734:exon9:c.G3164A:p.R1055K,PEG3:NM_001369737:exon9:c.G3164A:p.R1055K,PEG3:NM_001369718:exon10:c.G3635A:p.R1212K,PEG3:NM_001369722:exon10:c.G3257A:p.R1086K,PEG3:NM_001369727:exon10:c.G3257A:p.R1086K,PEG3:NM_001369729:exon10:c.G3257A:p.R1086K,PEG3:NM_001369730:exon10:c.G3257A:p.R1086K,PEG3:NM_001369732:exon10:c.G3257A:p.R1086K,PEG3:NM_001369738:exon10:c.G3164A:p.R1055K,PEG3:NM_001369739:exon10:c.G3257A:p.R1086K,PEG3:NM_006210:exon10:c.G3629A:p.R1210K,PEG3:NM_001369723:exon11:c.G3257A:p.R1086K,PEG3:NM_001369726:exon11:c.G3257A:p.R1086K,PEG3:NM_001369728:exon11:c.G3257A:p.R1086K,PEG3:NM_001369731:exon11:c.G3257A:p.R1086K,PEG3:NM_001369720:exon12:c.G3257A:p.R1086K,PEG3:NM_001369724:exon12:c.G3257A:p.R1086K",T,N,.,T,N,T
chr19,57326370,57326370,G,A,R007_S,PEG3,Missense_Mutation,NM_001369735,exon8,c.C2975T,p.T992I,SNP,SNVindel,exonic,PEG3,NA,nonsynonymous SNV,"PEG3:NM_001369735:exon8:c.C2975T:p.T992I,PEG3:NM_001369736:exon8:c.C2975T:p.T992I,PEG3:NM_001146184:exon9:c.C3440T:p.T1147I,PEG3:NM_001146185:exon9:c.C3062T:p.T1021I,PEG3:NM_001146187:exon9:c.C3068T:p.T1023I,PEG3:NM_001369717:exon9:c.C3446T:p.T1149I,PEG3:NM_001369719:exon9:c.C3353T:p.T1118I,PEG3:NM_001369721:exon9:c.C3068T:p.T1023I,PEG3:NM_001369725:exon9:c.C3068T:p.T1023I,PEG3:NM_001369733:exon9:c.C3068T:p.T1023I,PEG3:NM_001369734:exon9:c.C2975T:p.T992I,PEG3:NM_001369737:exon9:c.C2975T:p.T992I,PEG3:NM_001369718:exon10:c.C3446T:p.T1149I,PEG3:NM_001369722:exon10:c.C3068T:p.T1023I,PEG3:NM_001369727:exon10:c.C3068T:p.T1023I,PEG3:NM_001369729:exon10:c.C3068T:p.T1023I,PEG3:NM_001369730:exon10:c.C3068T:p.T1023I,PEG3:NM_001369732:exon10:c.C3068T:p.T1023I,PEG3:NM_001369738:exon10:c.C2975T:p.T992I,PEG3:NM_001369739:exon10:c.C3068T:p.T1023I,PEG3:NM_006210:exon10:c.C3440T:p.T1147I,PEG3:NM_001369723:exon11:c.C3068T:p.T1023I,PEG3:NM_001369726:exon11:c.C3068T:p.T1023I,PEG3:NM_001369728:exon11:c.C3068T:p.T1023I,PEG3:NM_001369731:exon11:c.C3068T:p.T1023I,PEG3:NM_001369720:exon12:c.C3068T:p.T1023I,PEG3:NM_001369724:exon12:c.C3068T:p.T1023I",T,N,.,T,N,T
chr19,57327069,57327069,C,T,R007_S,PEG3,Missense_Mutation,NM_001369735,exon8,c.G2276A,p.G759D,SNP,SNVindel,exonic,PEG3,NA,nonsynonymous SNV,"PEG3:NM_001369735:exon8:c.G2276A:p.G759D,PEG3:NM_001369736:exon8:c.G2276A:p.G759D,PEG3:NM_001146184:exon9:c.G2741A:p.G914D,PEG3:NM_001146185:exon9:c.G2363A:p.G788D,PEG3:NM_001146187:exon9:c.G2369A:p.G790D,PEG3:NM_001369717:exon9:c.G2747A:p.G916D,PEG3:NM_001369719:exon9:c.G2654A:p.G885D,PEG3:NM_001369721:exon9:c.G2369A:p.G790D,PEG3:NM_001369725:exon9:c.G2369A:p.G790D,PEG3:NM_001369733:exon9:c.G2369A:p.G790D,PEG3:NM_001369734:exon9:c.G2276A:p.G759D,PEG3:NM_001369737:exon9:c.G2276A:p.G759D,PEG3:NM_001369718:exon10:c.G2747A:p.G916D,PEG3:NM_001369722:exon10:c.G2369A:p.G790D,PEG3:NM_001369727:exon10:c.G2369A:p.G790D,PEG3:NM_001369729:exon10:c.G2369A:p.G790D,PEG3:NM_001369730:exon10:c.G2369A:p.G790D,PEG3:NM_001369732:exon10:c.G2369A:p.G790D,PEG3:NM_001369738:exon10:c.G2276A:p.G759D,PEG3:NM_001369739:exon10:c.G2369A:p.G790D,PEG3:NM_006210:exon10:c.G2741A:p.G914D,PEG3:NM_001369723:exon11:c.G2369A:p.G790D,PEG3:NM_001369726:exon11:c.G2369A:p.G790D,PEG3:NM_001369728:exon11:c.G2369A:p.G790D,PEG3:NM_001369731:exon11:c.G2369A:p.G790D,PEG3:NM_001369720:exon12:c.G2369A:p.G790D,PEG3:NM_001369724:exon12:c.G2369A:p.G790D",T,N,.,T,N,T
chr19,57327273,57327273,C,T,R007_S,PEG3,Missense_Mutation,NM_001369735,exon8,c.G2072A,p.S691N,SNP,SNVindel,exonic,PEG3,NA,nonsynonymous SNV,"PEG3:NM_001369735:exon8:c.G2072A:p.S691N,PEG3:NM_001369736:exon8:c.G2072A:p.S691N,PEG3:NM_001146184:exon9:c.G2537A:p.S846N,PEG3:NM_001146185:exon9:c.G2159A:p.S720N,PEG3:NM_001146187:exon9:c.G2165A:p.S722N,PEG3:NM_001369717:exon9:c.G2543A:p.S848N,PEG3:NM_001369719:exon9:c.G2450A:p.S817N,PEG3:NM_001369721:exon9:c.G2165A:p.S722N,PEG3:NM_001369725:exon9:c.G2165A:p.S722N,PEG3:NM_001369733:exon9:c.G2165A:p.S722N,PEG3:NM_001369734:exon9:c.G2072A:p.S691N,PEG3:NM_001369737:exon9:c.G2072A:p.S691N,PEG3:NM_001369718:exon10:c.G2543A:p.S848N,PEG3:NM_001369722:exon10:c.G2165A:p.S722N,PEG3:NM_001369727:exon10:c.G2165A:p.S722N,PEG3:NM_001369729:exon10:c.G2165A:p.S722N,PEG3:NM_001369730:exon10:c.G2165A:p.S722N,PEG3:NM_001369732:exon10:c.G2165A:p.S722N,PEG3:NM_001369738:exon10:c.G2072A:p.S691N,PEG3:NM_001369739:exon10:c.G2165A:p.S722N,PEG3:NM_006210:exon10:c.G2537A:p.S846N,PEG3:NM_001369723:exon11:c.G2165A:p.S722N,PEG3:NM_001369726:exon11:c.G2165A:p.S722N,PEG3:NM_001369728:exon11:c.G2165A:p.S722N,PEG3:NM_001369731:exon11:c.G2165A:p.S722N,PEG3:NM_001369720:exon12:c.G2165A:p.S722N,PEG3:NM_001369724:exon12:c.G2165A:p.S722N",T,N,.,T,N,T
chr19,57328076,57328076,C,T,R007_S,PEG3,Silent,NM_001369735,exon8,c.G1269A,p.L423L,SNP,SNVindel,exonic,PEG3,NA,synonymous SNV,"PEG3:NM_001369735:exon8:c.G1269A:p.L423L,PEG3:NM_001369736:exon8:c.G1269A:p.L423L,PEG3:NM_001146184:exon9:c.G1734A:p.L578L,PEG3:NM_001146185:exon9:c.G1356A:p.L452L,PEG3:NM_001146187:exon9:c.G1362A:p.L454L,PEG3:NM_001369717:exon9:c.G1740A:p.L580L,PEG3:NM_001369719:exon9:c.G1647A:p.L549L,PEG3:NM_001369721:exon9:c.G1362A:p.L454L,PEG3:NM_001369725:exon9:c.G1362A:p.L454L,PEG3:NM_001369733:exon9:c.G1362A:p.L454L,PEG3:NM_001369734:exon9:c.G1269A:p.L423L,PEG3:NM_001369737:exon9:c.G1269A:p.L423L,PEG3:NM_001369718:exon10:c.G1740A:p.L580L,PEG3:NM_001369722:exon10:c.G1362A:p.L454L,PEG3:NM_001369727:exon10:c.G1362A:p.L454L,PEG3:NM_001369729:exon10:c.G1362A:p.L454L,PEG3:NM_001369730:exon10:c.G1362A:p.L454L,PEG3:NM_001369732:exon10:c.G1362A:p.L454L,PEG3:NM_001369738:exon10:c.G1269A:p.L423L,PEG3:NM_001369739:exon10:c.G1362A:p.L454L,PEG3:NM_006210:exon10:c.G1734A:p.L578L,PEG3:NM_001369723:exon11:c.G1362A:p.L454L,PEG3:NM_001369726:exon11:c.G1362A:p.L454L,PEG3:NM_001369728:exon11:c.G1362A:p.L454L,PEG3:NM_001369731:exon11:c.G1362A:p.L454L,PEG3:NM_001369720:exon12:c.G1362A:p.L454L,PEG3:NM_001369724:exon12:c.G1362A:p.L454L",NA,NA,NA,NA,NA,NA
chr19,57335911,57335911,C,T,R007_S,PEG3,Missense_Mutation,NM_001146184,exon3,c.G113A,p.G38D,SNP,SNVindel,exonic,PEG3,NA,nonsynonymous SNV,"PEG3:NM_001146184:exon3:c.G113A:p.G38D,PEG3:NM_001369717:exon3:c.G113A:p.G38D,PEG3:NM_001369718:exon4:c.G113A:p.G38D,PEG3:NM_001369719:exon4:c.G113A:p.G38D,PEG3:NM_006210:exon4:c.G113A:p.G38D",D,N,.,T,N,T
chr19,57705311,57705311,T,G,R007_S,ZNF264,Silent,NM_003417,exon2,c.T102G,p.A34A,SNP,SNVindel,exonic,ZNF264,NA,synonymous SNV,ZNF264:NM_003417:exon2:c.T102G:p.A34A,NA,NA,NA,NA,NA,NA
chr19,57765110,57765110,G,A,R007_S,ZNF805,Missense_Mutation,NM_001145078,exon3,c.G524A,p.S175N,SNP,SNVindel,exonic,ZNF805,NA,nonsynonymous SNV,"ZNF805:NM_001145078:exon3:c.G524A:p.S175N,ZNF805:NM_001023563:exon4:c.G923A:p.S308N",T,N,N,T,N,T
chr19,57792199,57792199,G,A,R007_S,ZNF460,Missense_Mutation,NM_006635,exon1,c.G25A,p.A9T,SNP,SNVindel,exonic,ZNF460,NA,nonsynonymous SNV,ZNF460:NM_006635:exon1:c.G25A:p.A9T,T,.,N,T,N,T
chr19,57868264,57868264,G,A,R007_S,ZNF304,Missense_Mutation,NM_020657,exon3,c.G1027A,p.A343T,SNP,SNVindel,exonic,ZNF304,NA,nonsynonymous SNV,"ZNF304:NM_020657:exon3:c.G1027A:p.A343T,ZNF304:NM_001290318:exon4:c.G1168A:p.A390T,ZNF304:NM_001290319:exon4:c.G901A:p.A301T,ZNF304:NM_001329456:exon4:c.G751A:p.A251T",T,.,N,T,N,T
chr19,57910055,57910055,G,A,R007_S,ZNF548,Missense_Mutation,NM_152909,exon3,c.G400A,p.D134N,SNP,SNVindel,exonic,ZNF548,NA,nonsynonymous SNV,"ZNF548:NM_152909:exon3:c.G400A:p.D134N,ZNF548:NM_001172773:exon4:c.G436A:p.D146N",T,.,N,T,N,T
chr19,57954836,57954836,C,T,R007_S,ZNF749,Missense_Mutation,NM_001321953,exon2,c.C59T,p.P20L,SNP,SNVindel,exonic,ZNF749,NA,nonsynonymous SNV,"ZNF749:NM_001321953:exon2:c.C59T:p.P20L,ZNF749:NM_001321954:exon2:c.C59T:p.P20L,ZNF749:NM_001023561:exon3:c.C320T:p.P107L,ZNF749:NM_001321952:exon3:c.C299T:p.P100L",T,.,N,T,D,T
chr19,57954873,57954873,C,T,R007_S,ZNF749,Silent,NM_001321953,exon2,c.C96T,p.D32D,SNP,SNVindel,exonic,ZNF749,NA,synonymous SNV,"ZNF749:NM_001321953:exon2:c.C96T:p.D32D,ZNF749:NM_001321954:exon2:c.C96T:p.D32D,ZNF749:NM_001023561:exon3:c.C357T:p.D119D,ZNF749:NM_001321952:exon3:c.C336T:p.D112D",NA,NA,NA,NA,NA,NA
chr19,58004508,58004508,G,A,R007_S,ZNF419,Missense_Mutation,NM_001098495,exon3,c.G448A,p.A150T,SNP,SNVindel,exonic,ZNF419,NA,nonsynonymous SNV,"ZNF419:NM_001098495:exon3:c.G448A:p.A150T,ZNF419:NM_001098496:exon3:c.G445A:p.A149T,ZNF419:NM_001098492:exon4:c.G547A:p.A183T,ZNF419:NM_001098493:exon4:c.G544A:p.A182T,ZNF419:NM_001098494:exon4:c.G487A:p.A163T,ZNF419:NM_001291743:exon4:c.G484A:p.A162T,ZNF419:NM_001291744:exon4:c.G319A:p.A107T,ZNF419:NM_001098491:exon5:c.G586A:p.A196T,ZNF419:NM_024691:exon5:c.G583A:p.A195T",T,.,N,T,N,T
chr19,58005377,58005377,G,A,R007_S,ZNF419,Silent,NM_001098495,exon3,c.G1317A,p.E439E,SNP,SNVindel,exonic,ZNF419,NA,synonymous SNV,"ZNF419:NM_001098495:exon3:c.G1317A:p.E439E,ZNF419:NM_001098496:exon3:c.G1314A:p.E438E,ZNF419:NM_001098492:exon4:c.G1416A:p.E472E,ZNF419:NM_001098493:exon4:c.G1413A:p.E471E,ZNF419:NM_001098494:exon4:c.G1356A:p.E452E,ZNF419:NM_001291743:exon4:c.G1353A:p.E451E,ZNF419:NM_001291744:exon4:c.G1188A:p.E396E,ZNF419:NM_001098491:exon5:c.G1455A:p.E485E,ZNF419:NM_024691:exon5:c.G1452A:p.E484E",NA,NA,NA,NA,NA,NA
chr19,58017900,58017900,C,T,R007_S,ZNF773,Missense_Mutation,NM_001304334,exon4,c.C434T,p.S145F,SNP,SNVindel,exonic,ZNF773,NA,nonsynonymous SNV,"ZNF773:NM_001304334:exon4:c.C434T:p.S145F,ZNF773:NM_198542:exon4:c.C437T:p.S146F",D,.,N,T,D,T
chr19,58101598,58101598,G,A,R007_S,ZIK1,Missense_Mutation,NM_001321147,exon2,c.G110A,p.S37N,SNP,SNVindel,exonic,ZIK1,NA,nonsynonymous SNV,"ZIK1:NM_001321147:exon2:c.G110A:p.S37N,ZIK1:NM_001321145:exon3:c.G380A:p.S127N,ZIK1:NM_001321146:exon3:c.G254A:p.S85N,ZIK1:NM_001010879:exon4:c.G419A:p.S140N",T,.,N,T,N,T
chr19,58146063,58146063,G,A,R007_S,ZNF211,Missense_Mutation,NM_001265598,exon2,c.G157A,p.A53T,SNP,SNVindel,exonic,ZNF211,NA,nonsynonymous SNV,"ZNF211:NM_001265598:exon2:c.G157A:p.A53T,ZNF211:NM_198855:exon2:c.G157A:p.A53T,ZNF211:NM_001265597:exon3:c.G196A:p.A66T,ZNF211:NM_006385:exon3:c.G196A:p.A66T",T,.,D,T,D,T
chr19,58153320,58153320,C,T,R007_S,ZNF211,Missense_Mutation,NM_001265600,exon3,c.C1283T,p.S428F,SNP,SNVindel,exonic,ZNF211,NA,nonsynonymous SNV,"ZNF211:NM_001265600:exon3:c.C1283T:p.S428F,ZNF211:NM_198855:exon3:c.C1466T:p.S489F,ZNF211:NM_001265598:exon4:c.C1622T:p.S541F,ZNF211:NM_006385:exon4:c.C1505T:p.S502F,ZNF211:NM_001265597:exon5:c.C1661T:p.S554F,ZNF211:NM_001265599:exon5:c.C1439T:p.S480F,ZNF211:NM_001322306:exon5:c.C1655T:p.S552F",T,.,N,T,D,T
chr19,58187804,58187804,C,T,R007_S,ZSCAN4,Silent,NM_152677,exon3,c.C291T,p.H97H,SNP,SNVindel,exonic,ZSCAN4,NA,synonymous SNV,ZSCAN4:NM_152677:exon3:c.C291T:p.H97H,NA,NA,NA,NA,NA,NA
chr19,58458836,58458836,C,T,R007_S,ZNF256,Missense_Mutation,NM_005773,exon1,c.G7A,p.A3T,SNP,SNVindel,exonic,ZNF256,NA,nonsynonymous SNV,ZNF256:NM_005773:exon1:c.G7A:p.A3T,T,.,N,T,N,T
chr19,58572969,58572969,G,A,R007_S,ZNF135,Missense_Mutation,NM_001164527,exon2,c.G91A,p.V31M,SNP,SNVindel,exonic,ZNF135,NA,nonsynonymous SNV,"ZNF135:NM_001164527:exon2:c.G91A:p.V31M,ZNF135:NM_001164529:exon2:c.G91A:p.V31M,ZNF135:NM_001164530:exon2:c.G91A:p.V31M,ZNF135:NM_007134:exon2:c.G91A:p.V31M,ZNF135:NM_001289401:exon3:c.G55A:p.V19M,ZNF135:NM_003436:exon3:c.G55A:p.V19M",D,.,D,T,N,T
chr19,58596612,58596612,C,T,R007_S,ZSCAN18,Missense_Mutation,NM_001145544,exon6,c.G565A,p.E189K,SNP,SNVindel,exonic,ZSCAN18,NA,nonsynonymous SNV,"ZSCAN18:NM_001145544:exon6:c.G565A:p.E189K,ZSCAN18:NM_001145542:exon7:c.G1141A:p.E381K,ZSCAN18:NM_001145543:exon7:c.G973A:p.E325K,ZSCAN18:NM_023926:exon7:c.G973A:p.E325K",T,N,N,T,N,T
chr19,58601617,58601617,C,T,R007_S,ZSCAN18,Silent,NM_001145542,exon2,c.G186A,p.K62K,SNP,SNVindel,exonic,ZSCAN18,NA,synonymous SNV,"ZSCAN18:NM_001145542:exon2:c.G186A:p.K62K,ZSCAN18:NM_001145543:exon2:c.G18A:p.K6K,ZSCAN18:NM_023926:exon2:c.G18A:p.K6K",NA,NA,NA,NA,NA,NA
chr19,58629733,58629733,C,T,R007_S,ZSCAN18,Missense_Mutation,NM_001145542,exon1,c.G31A,p.D11N,SNP,SNVindel,exonic,ZSCAN18,NA,nonsynonymous SNV,ZSCAN18:NM_001145542:exon1:c.G31A:p.D11N,.,.,N,T,.,T
chr19,58724002,58724002,G,A,R007_S,ZNF274,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZNF274,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,58772434,58772434,G,A,R007_S,ZNF544,Silent,NM_001320770,exon6,c.G378A,p.R126R,SNP,SNVindel,exonic,ZNF544,NA,synonymous SNV,"ZNF544:NM_001320770:exon6:c.G378A:p.R126R,ZNF544:NM_001320771:exon6:c.G378A:p.R126R,ZNF544:NM_001320773:exon6:c.G378A:p.R126R,ZNF544:NM_001320767:exon7:c.G462A:p.R154R,ZNF544:NM_001320769:exon7:c.G462A:p.R154R,ZNF544:NM_014480:exon7:c.G462A:p.R154R",NA,NA,NA,NA,NA,NA
chr19,58773106,58773106,G,A,R007_S,ZNF544,Silent,NM_001320770,exon6,c.G1050A,p.K350K,SNP,SNVindel,exonic,ZNF544,NA,synonymous SNV,"ZNF544:NM_001320770:exon6:c.G1050A:p.K350K,ZNF544:NM_001320771:exon6:c.G1050A:p.K350K,ZNF544:NM_001320773:exon6:c.G1050A:p.K350K,ZNF544:NM_001320767:exon7:c.G1134A:p.K378K,ZNF544:NM_001320769:exon7:c.G1134A:p.K378K,ZNF544:NM_001320774:exon7:c.G429A:p.K143K,ZNF544:NM_014480:exon7:c.G1134A:p.K378K",NA,NA,NA,NA,NA,NA
chr19,58805597,58805597,G,A,R007_S,ZNF8,Silent,NM_021089,exon4,c.G423A,p.R141R,SNP,SNVindel,exonic,ZNF8,NA,synonymous SNV,ZNF8:NM_021089:exon4:c.G423A:p.R141R,NA,NA,NA,NA,NA,NA
chr19,58907498,58907498,C,T,R007_S,RNF225,Silent,NM_001195135,exon1,c.C42T,p.A14A,SNP,SNVindel,exonic,RNF225,NA,synonymous SNV,RNF225:NM_001195135:exon1:c.C42T:p.A14A,NA,NA,NA,NA,NA,NA
chr19,58945891,58945891,C,T,R007_S,ZNF132,Missense_Mutation,NM_003433,exon3,c.G920A,p.R307K,SNP,SNVindel,exonic,ZNF132,NA,nonsynonymous SNV,ZNF132:NM_003433:exon3:c.G920A:p.R307K,T,.,N,T,N,T
chr19,58991880,58991880,C,T,R007_S,ZNF446,Silent,NM_017908,exon7,c.C1140T,p.A380A,SNP,SNVindel,exonic,ZNF446,NA,synonymous SNV,ZNF446:NM_017908:exon7:c.C1140T:p.A380A,NA,NA,NA,NA,NA,NA
chr19,59010518,59010518,C,T,R007_S,SLC27A5,Silent,NM_001321196,exon8,c.G1485A,p.Q495Q,SNP,SNVindel,exonic,SLC27A5,NA,synonymous SNV,"SLC27A5:NM_001321196:exon8:c.G1485A:p.Q495Q,SLC27A5:NM_012254:exon8:c.G1737A:p.Q579Q",NA,NA,NA,NA,NA,NA
chr20,76965,76965,G,A,R007_S,DEFB125,Silent,NM_153325,exon2,c.G378A,p.E126E,SNP,SNVindel,exonic,DEFB125,NA,synonymous SNV,DEFB125:NM_153325:exon2:c.G378A:p.E126E,NA,NA,NA,NA,NA,NA
chr20,210409,210409,G,A,R007_S,DEFB129,Silent,NM_080831,exon2,c.G549A,p.Q183Q,SNP,SNVindel,exonic,DEFB129,NA,synonymous SNV,DEFB129:NM_080831:exon2:c.G549A:p.Q183Q,NA,NA,NA,NA,NA,NA
chr20,239878,239878,C,T,R007_S,DEFB132,Silent,NM_207469,exon2,c.C219T,p.N73N,SNP,SNVindel,exonic,DEFB132,NA,synonymous SNV,DEFB132:NM_207469:exon2:c.C219T:p.N73N,NA,NA,NA,NA,NA,NA
chr20,279410,279410,G,A,R007_S,ZCCHC3,Missense_Mutation,NM_033089,exon1,c.G1183A,p.A395T,SNP,SNVindel,exonic,ZCCHC3,NA,nonsynonymous SNV,ZCCHC3:NM_033089:exon1:c.G1183A:p.A395T,.,N,N,.,.,T
chr20,390569,390569,G,A,R007_S,RBCK1,Missense_Mutation,NM_001323960,exon2,c.G67A,p.D23N,SNP,SNVindel,exonic,RBCK1,NA,nonsynonymous SNV,"RBCK1:NM_001323960:exon2:c.G67A:p.D23N,RBCK1:NM_031229:exon2:c.G67A:p.D23N",D,D,D,T,D,T
chr20,400205,400205,G,A,R007_S,RBCK1,Nonsense_Mutation,NM_001323958,exon5,c.G237A,p.W79X,SNP,SNVindel,exonic,RBCK1,NA,stopgain,"RBCK1:NM_001323958:exon5:c.G237A:p.W79X,RBCK1:NM_001323956:exon6:c.G237A:p.W79X",D,D,A,T,D,T
chr20,644542,644542,A,T,R007_S,SCRT2,Missense_Mutation,NM_033129,exon2,c.T697A,p.S233T,SNP,SNVindel,exonic,SCRT2,NA,nonsynonymous SNV,SCRT2:NM_033129:exon2:c.T697A:p.S233T,T,U,D,T,D,T
chr20,982743,982743,C,T,R007_S,RSPO4,Missense_Mutation,NM_001029871,exon1,c.G65A,p.R22Q,SNP,SNVindel,exonic,RSPO4,NA,nonsynonymous SNV,"RSPO4:NM_001029871:exon1:c.G65A:p.R22Q,RSPO4:NM_001040007:exon1:c.G65A:p.R22Q",D,N,N,D,N,T
chr20,1460645,1460645,C,T,R007_S,SIRPB2,Missense_Mutation,NM_001122962,exon2,c.G151A,p.A51T,SNP,SNVindel,exonic,SIRPB2,NA,nonsynonymous SNV,"SIRPB2:NM_001122962:exon2:c.G151A:p.A51T,SIRPB2:NM_001134836:exon2:c.G151A:p.A51T",T,N,D,T,N,T
chr20,2315831,2315831,G,A,R007_S,TGM3,Missense_Mutation,NM_003245,exon11,c.G1712A,p.R571Q,SNP,SNVindel,exonic,TGM3,NA,nonsynonymous SNV,TGM3:NM_003245:exon11:c.G1712A:p.R571Q,T,N,D,T,N,T
chr20,2582759,2582759,G,A,R007_S,TMC2,Missense_Mutation,NM_080751,exon11,c.G1225A,p.E409K,SNP,SNVindel,exonic,TMC2,NA,nonsynonymous SNV,TMC2:NM_080751:exon11:c.G1225A:p.E409K,D,D,D,T,D,T
chr20,2841179,2841179,C,T,R007_S,VPS16,Missense_Mutation,NM_022575,exon5,c.C454T,p.R152C,SNP,SNVindel,exonic,VPS16,NA,nonsynonymous SNV,"VPS16:NM_022575:exon5:c.C454T:p.R152C,VPS16:NM_080413:exon5:c.C454T:p.R152C",D,D,D,T,D,T
chr20,2841409,2841409,C,T,R007_S,VPS16,Missense_Mutation,NM_022575,exon6,c.C530T,p.P177L,SNP,SNVindel,exonic,VPS16,NA,nonsynonymous SNV,"VPS16:NM_022575:exon6:c.C530T:p.P177L,VPS16:NM_080413:exon6:c.C530T:p.P177L",T,D,D,T,D,T
chr20,3052758,3052758,C,T,R007_S,OXT,Silent,NM_000915,exon2,c.C156T,p.C52C,SNP,SNVindel,exonic,OXT,NA,synonymous SNV,OXT:NM_000915:exon2:c.C156T:p.C52C,NA,NA,NA,NA,NA,NA
chr20,3146890,3146890,G,A,R007_S,LZTS3,Silent,NM_001282533,exon4,c.C576T,p.G192G,SNP,SNVindel,exonic,LZTS3,NA,synonymous SNV,"LZTS3:NM_001282533:exon4:c.C576T:p.G192G,LZTS3:NM_001365618:exon4:c.C576T:p.G192G,LZTS3:NM_001367609:exon4:c.C666T:p.G222G",NA,NA,NA,NA,NA,NA
chr20,3181024,3181024,C,T,R007_S,DDRGK1,Silent,NM_023935,exon3,c.G372A,p.K124K,SNP,SNVindel,exonic,DDRGK1,NA,synonymous SNV,DDRGK1:NM_023935:exon3:c.G372A:p.K124K,NA,NA,NA,NA,NA,NA
chr20,3520945,3520945,G,A,R007_S,ATRN,Missense_Mutation,NM_001207047,exon3,c.G223A,p.G75R,SNP,SNVindel,exonic,ATRN,NA,nonsynonymous SNV,"ATRN:NM_001207047:exon3:c.G223A:p.G75R,ATRN:NM_001323332:exon3:c.G571A:p.G191R,ATRN:NM_139321:exon3:c.G571A:p.G191R,ATRN:NM_139322:exon3:c.G571A:p.G191R",D,D,D,T,D,T
chr20,3605172,3605172,G,A,R007_S,ATRN,Silent,NM_001323332,exon25,c.G3816A,p.Q1272Q,SNP,SNVindel,exonic,ATRN,NA,synonymous SNV,"ATRN:NM_001323332:exon25:c.G3816A:p.Q1272Q,ATRN:NM_139321:exon25:c.G3816A:p.Q1272Q",NA,NA,NA,NA,NA,NA
chr20,3672033,3672033,G,A,R007_S,SIGLEC1,Silent,NM_001367089,exon17,c.C4545T,p.L1515L,SNP,SNVindel,exonic,SIGLEC1,NA,synonymous SNV,"SIGLEC1:NM_001367089:exon17:c.C4545T:p.L1515L,SIGLEC1:NM_023068:exon18:c.C4545T:p.L1515L",NA,NA,NA,NA,NA,NA
chr20,3687313,3687313,C,T,R007_S,SIGLEC1,Silent,NM_001367089,exon2,c.G90A,p.Q30Q,SNP,SNVindel,exonic,SIGLEC1,NA,synonymous SNV,"SIGLEC1:NM_001367089:exon2:c.G90A:p.Q30Q,SIGLEC1:NM_023068:exon3:c.G90A:p.Q30Q",NA,NA,NA,NA,NA,NA
chr20,3783763,3783763,C,T,R007_S,CDC25B,Silent,NM_001287524,exon9,c.C690T,p.A230A,SNP,SNVindel,exonic,CDC25B,NA,synonymous SNV,"CDC25B:NM_001287524:exon9:c.C690T:p.A230A,CDC25B:NM_001287518:exon12:c.C993T:p.A331A,CDC25B:NM_001287522:exon12:c.C807T:p.A269A,CDC25B:NM_021872:exon12:c.C1143T:p.A381A,CDC25B:NM_001287516:exon13:c.C1074T:p.A358A,CDC25B:NM_001287517:exon13:c.C1032T:p.A344A,CDC25B:NM_001287519:exon13:c.C930T:p.A310A,CDC25B:NM_001287520:exon13:c.C930T:p.A310A,CDC25B:NM_004358:exon13:c.C1224T:p.A408A,CDC25B:NM_021873:exon13:c.C1266T:p.A422A",NA,NA,NA,NA,NA,NA
chr20,3842930,3842930,C,T,R007_S,MAVS,Silent,NM_001206491,exon4,c.C72T,p.S24S,SNP,SNVindel,exonic,MAVS,NA,synonymous SNV,"MAVS:NM_001206491:exon4:c.C72T:p.S24S,MAVS:NM_020746:exon5:c.C495T:p.S165S",NA,NA,NA,NA,NA,NA
chr20,4163114,4163114,G,A,R007_S,SMOX,Missense_Mutation,NM_001270691,exon5,c.G988A,p.V330M,SNP,SNVindel,exonic,SMOX,NA,nonsynonymous SNV,"SMOX:NM_001270691:exon5:c.G988A:p.V330M,SMOX:NM_175839:exon5:c.G988A:p.V330M",D,D,D,D,N,D
chr20,4913118,4913118,C,T,R007_S,SLC23A2,Missense_Mutation,NM_005116,exon3,c.G91A,p.A31T,SNP,SNVindel,exonic,SLC23A2,NA,nonsynonymous SNV,"SLC23A2:NM_005116:exon3:c.G91A:p.A31T,SLC23A2:NM_203327:exon3:c.G91A:p.A31T",T,N,N,T,N,T
chr20,5167337,5167337,C,T,R007_S,CDS2,Missense_Mutation,NM_003818,exon10,c.C833T,p.S278F,SNP,SNVindel,exonic,CDS2,NA,nonsynonymous SNV,CDS2:NM_003818:exon10:c.C833T:p.S278F,D,D,D,T,D,T
chr20,5545692,5545692,C,T,R007_S,GPCPD1,Missense_Mutation,NM_019593,exon15,c.G1300A,p.E434K,SNP,SNVindel,exonic,GPCPD1,NA,nonsynonymous SNV,GPCPD1:NM_019593:exon15:c.G1300A:p.E434K,D,D,D,T,D,T
chr20,5903997,5903997,G,A,R007_S,CHGB,Missense_Mutation,NM_001819,exon4,c.G1207A,p.E403K,SNP,SNVindel,exonic,CHGB,NA,nonsynonymous SNV,CHGB:NM_001819:exon4:c.G1207A:p.E403K,D,D,N,T,N,T
chr20,6021682,6021682,G,A,R007_S,LRRN4,Nonsense_Mutation,NM_152611,exon5,c.C2209T,p.Q737X,SNP,SNVindel,exonic,LRRN4,NA,stopgain,LRRN4:NM_152611:exon5:c.C2209T:p.Q737X,.,N,N,.,.,.
chr20,6025308,6025308,G,A,R007_S,LRRN4,Silent,NM_152611,exon4,c.C879T,p.F293F,SNP,SNVindel,exonic,LRRN4,NA,synonymous SNV,LRRN4:NM_152611:exon4:c.C879T:p.F293F,NA,NA,NA,NA,NA,NA
chr20,6759633,6759633,C,A,R007_S,BMP2,Missense_Mutation,NM_001200,exon3,c.C1088A,p.P363Q,SNP,SNVindel,exonic,BMP2,NA,nonsynonymous SNV,BMP2:NM_001200:exon3:c.C1088A:p.P363Q,D,D,D,D,D,D
chr20,9438095,9438095,G,A,R007_S,PLCB4,Missense_Mutation,NM_000933,exon30,c.G2995A,p.E999K,SNP,SNVindel,exonic,PLCB4,NA,nonsynonymous SNV,"PLCB4:NM_000933:exon30:c.G2995A:p.E999K,PLCB4:NM_182797:exon31:c.G2995A:p.E999K,PLCB4:NM_001172646:exon33:c.G3031A:p.E1011K",T,D,D,T,N,T
chr20,10603597,10603597,G,A,R007_S,SLX4IP,Missense_Mutation,NM_001009608,exon8,c.G797A,p.G266E,SNP,SNVindel,exonic,SLX4IP,NA,nonsynonymous SNV,SLX4IP:NM_001009608:exon8:c.G797A:p.G266E,T,N,N,T,D,T
chr20,10622339,10622339,G,A,R007_S,JAG1,Silent,NM_000214,exon23,c.C2685T,p.V895V,SNP,SNVindel,exonic,JAG1,NA,synonymous SNV,JAG1:NM_000214:exon23:c.C2685T:p.V895V,NA,NA,NA,NA,NA,NA
chr20,11903998,11903998,G,A,R007_S,BTBD3,Missense_Mutation,NM_001282552,exon4,c.G800A,p.G267D,SNP,SNVindel,exonic,BTBD3,NA,nonsynonymous SNV,"BTBD3:NM_001282552:exon4:c.G800A:p.G267D,BTBD3:NM_001282554:exon4:c.G800A:p.G267D,BTBD3:NM_014962:exon4:c.G1253A:p.G418D,BTBD3:NM_001282550:exon5:c.G1070A:p.G357D,BTBD3:NM_001282551:exon5:c.G1070A:p.G357D,BTBD3:NM_181443:exon5:c.G1382A:p.G461D",D,D,D,T,D,D
chr20,14307288,14307288,C,T,R007_S,FLRT3,Missense_Mutation,NM_013281,exon2,c.G865A,p.G289S,SNP,SNVindel,exonic,FLRT3,NA,nonsynonymous SNV,"FLRT3:NM_013281:exon2:c.G865A:p.G289S,FLRT3:NM_198391:exon3:c.G865A:p.G289S",D,D,D,T,D,T
chr20,16352379,16352379,G,A,R007_S,KIF16B,Silent,NM_001199865,exon20,c.C3225T,p.V1075V,SNP,SNVindel,exonic,KIF16B,NA,synonymous SNV,"KIF16B:NM_001199865:exon20:c.C3225T:p.V1075V,KIF16B:NM_001199866:exon21:c.C3378T:p.V1126V,KIF16B:NM_024704:exon21:c.C3378T:p.V1126V",NA,NA,NA,NA,NA,NA
chr20,17640400,17640400,C,T,R007_S,RRBP1,Silent,NM_001365613,exon3,c.G753A,p.K251K,SNP,SNVindel,exonic,RRBP1,NA,synonymous SNV,RRBP1:NM_001365613:exon3:c.G753A:p.K251K,NA,NA,NA,NA,NA,NA
chr20,17640810,17640810,G,A,R007_S,RRBP1,Missense_Mutation,NM_004587,exon2,c.C343T,p.P115S,SNP,SNVindel,exonic,RRBP1,NA,nonsynonymous SNV,"RRBP1:NM_004587:exon2:c.C343T:p.P115S,RRBP1:NM_001042576:exon3:c.C343T:p.P115S,RRBP1:NM_001365613:exon3:c.C343T:p.P115S",T,N,N,T,N,T
chr20,17936118,17936118,G,A,R007_S,SNX5,Missense_Mutation,NM_014426,exon3,c.C158T,p.T53I,SNP,SNVindel,exonic,SNX5,NA,nonsynonymous SNV,"SNX5:NM_014426:exon3:c.C158T:p.T53I,SNX5:NM_152227:exon4:c.C158T:p.T53I",D,D,D,T,D,T
chr20,18296565,18296565,G,A,R007_S,ZNF133,Missense_Mutation,NM_001283005,exon2,c.G1013A,p.S338N,SNP,SNVindel,exonic,ZNF133,NA,nonsynonymous SNV,"ZNF133:NM_001283005:exon2:c.G1013A:p.S338N,ZNF133:NM_001352453:exon2:c.G1016A:p.S339N,ZNF133:NM_001283006:exon3:c.G1091A:p.S364N,ZNF133:NM_001283007:exon3:c.G1109A:p.S370N,ZNF133:NM_001083330:exon4:c.G1067A:p.S356N,ZNF133:NM_001282998:exon4:c.G1070A:p.S357N,ZNF133:NM_001282999:exon4:c.G1070A:p.S357N,ZNF133:NM_001283008:exon4:c.G785A:p.S262N,ZNF133:NM_001352451:exon4:c.G1067A:p.S356N,ZNF133:NM_001282997:exon5:c.G1070A:p.S357N,ZNF133:NM_001283000:exon5:c.G1070A:p.S357N,ZNF133:NM_001283001:exon5:c.G1070A:p.S357N,ZNF133:NM_001283002:exon5:c.G1079A:p.S360N,ZNF133:NM_001283003:exon5:c.G881A:p.S294N,ZNF133:NM_001283004:exon5:c.G881A:p.S294N,ZNF133:NM_001352457:exon5:c.G1067A:p.S356N,ZNF133:NM_001282995:exon6:c.G1067A:p.S356N,ZNF133:NM_001282996:exon6:c.G1121A:p.S374N,ZNF133:NM_001352454:exon6:c.G1070A:p.S357N,ZNF133:NM_001352455:exon6:c.G1070A:p.S357N,ZNF133:NM_001352459:exon6:c.G1067A:p.S356N,ZNF133:NM_001352463:exon6:c.G1070A:p.S357N,ZNF133:NM_001352452:exon7:c.G1070A:p.S357N,ZNF133:NM_001352456:exon7:c.G1067A:p.S356N,ZNF133:NM_001352461:exon7:c.G881A:p.S294N,ZNF133:NM_001352464:exon7:c.G1070A:p.S357N,ZNF133:NM_003434:exon7:c.G1067A:p.S356N,ZNF133:NM_001352458:exon8:c.G1067A:p.S356N,ZNF133:NM_001352460:exon8:c.G881A:p.S294N,ZNF133:NM_001352462:exon8:c.G878A:p.S293N,ZNF133:NM_001352450:exon10:c.G881A:p.S294N",T,N,N,T,N,T
chr20,18507168,18507168,C,T,R007_S,SEC23B,Missense_Mutation,NM_001172745,exon8,c.C986T,p.A329V,SNP,SNVindel,exonic,SEC23B,NA,nonsynonymous SNV,"SEC23B:NM_001172745:exon8:c.C986T:p.A329V,SEC23B:NM_001172746:exon8:c.C932T:p.A311V,SEC23B:NM_006363:exon8:c.C986T:p.A329V,SEC23B:NM_032985:exon8:c.C986T:p.A329V,SEC23B:NM_032986:exon8:c.C986T:p.A329V",D,D,D,D,D,D
chr20,21196252,21196252,G,A,R007_S,KIZ,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,KIZ,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr20,23029235,23029235,G,A,R007_S,THBD,Missense_Mutation,NM_000361,exon1,c.C907T,p.P303S,SNP,SNVindel,exonic,THBD,NA,nonsynonymous SNV,THBD:NM_000361:exon1:c.C907T:p.P303S,T,N,N,D,N,T
chr20,23065170,23065170,C,T,R007_S,CD93,Missense_Mutation,NM_012072,exon1,c.G1660A,p.A554T,SNP,SNVindel,exonic,CD93,NA,nonsynonymous SNV,CD93:NM_012072:exon1:c.G1660A:p.A554T,T,N,N,T,N,T
chr20,25228853,25228853,G,A,R007_S,PYGB,Silent,NM_002862,exon1,c.G39A,p.Q13Q,SNP,SNVindel,exonic,PYGB,NA,synonymous SNV,PYGB:NM_002862:exon1:c.G39A:p.Q13Q,NA,NA,NA,NA,NA,NA
chr20,29960864,29960864,G,A,R007_S,DEFB118,Missense_Mutation,NM_054112,exon2,c.G263A,p.R88K,SNP,SNVindel,exonic,DEFB118,NA,nonsynonymous SNV,DEFB118:NM_054112:exon2:c.G263A:p.R88K,T,.,N,T,N,T
chr20,30414459,30414459,C,T,R007_S,MYLK2,Silent,NM_033118,exon7,c.C1024T,p.L342L,SNP,SNVindel,exonic,MYLK2,NA,synonymous SNV,MYLK2:NM_033118:exon7:c.C1024T:p.L342L,NA,NA,NA,NA,NA,NA
chr20,30584921,30584921,C,T,R007_S,XKR7,Silent,NM_001011718,exon3,c.C1401T,p.D467D,SNP,SNVindel,exonic,XKR7,NA,synonymous SNV,XKR7:NM_001011718:exon3:c.C1401T:p.D467D,NA,NA,NA,NA,NA,NA
chr20,30602816,30602816,C,T,R007_S,CCM2L,Missense_Mutation,NM_001365692,exon2,c.C140T,p.P47L,SNP,SNVindel,exonic,CCM2L,NA,nonsynonymous SNV,"CCM2L:NM_001365692:exon2:c.C140T:p.P47L,CCM2L:NM_080625:exon2:c.C140T:p.P47L",D,D,D,T,D,D
chr20,30897643,30897643,C,T,R007_S,KIF3B,Silent,NM_004798,exon2,c.C63T,p.G21G,SNP,SNVindel,exonic,KIF3B,NA,synonymous SNV,KIF3B:NM_004798:exon2:c.C63T:p.G21G,NA,NA,NA,NA,NA,NA
chr20,31035426,31035426,C,T,R007_S,NOL4L,Silent,NM_080616,exon8,c.G1284A,p.L428L,SNP,SNVindel,exonic,NOL4L,NA,synonymous SNV,"NOL4L:NM_080616:exon8:c.G1284A:p.L428L,NOL4L:NM_001256798:exon11:c.G2016A:p.L672L",NA,NA,NA,NA,NA,NA
chr20,31035541,31035541,G,A,R007_S,NOL4L,Missense_Mutation,NM_080616,exon8,c.C1169T,p.T390I,SNP,SNVindel,exonic,NOL4L,NA,nonsynonymous SNV,"NOL4L:NM_080616:exon8:c.C1169T:p.T390I,NOL4L:NM_001256798:exon11:c.C1901T:p.T634I",D,N,D,.,N,T
chr20,31040158,31040158,G,A,R007_S,NOL4L,Missense_Mutation,NM_001351680,exon7,c.C971T,p.S324F,SNP,SNVindel,exonic,NOL4L,NA,nonsynonymous SNV,"NOL4L:NM_001351680:exon7:c.C971T:p.S324F,NOL4L:NM_080616:exon7:c.C971T:p.S324F,NOL4L:NM_001256798:exon10:c.C1703T:p.S568F",D,N,D,.,D,T
chr20,31238897,31238897,G,A,R007_S,C20orf203,Missense_Mutation,NM_182584,exon3,c.C58T,p.P20S,SNP,SNVindel,exonic,C20orf203,NA,nonsynonymous SNV,C20orf203:NM_182584:exon3:c.C58T:p.P20S,NA,NA,NA,NA,NA,NA
chr20,31466612,31466612,C,T,R007_S,EFCAB8,Silent,NM_001143967,exon5,c.C430T,p.L144L,SNP,SNVindel,exonic,EFCAB8,NA,synonymous SNV,EFCAB8:NM_001143967:exon5:c.C430T:p.L144L,NA,NA,NA,NA,NA,NA
chr20,31473397,31473397,G,A,R007_S,EFCAB8,Missense_Mutation,NM_001143967,exon6,c.G518A,p.G173E,SNP,SNVindel,exonic,EFCAB8,NA,nonsynonymous SNV,EFCAB8:NM_001143967:exon6:c.G518A:p.G173E,D,.,.,T,D,.
chr20,31496125,31496125,C,T,R007_S,EFCAB8,Silent,NM_001143967,exon14,c.C1353T,p.S451S,SNP,SNVindel,exonic,EFCAB8,NA,synonymous SNV,EFCAB8:NM_001143967:exon14:c.C1353T:p.S451S,NA,NA,NA,NA,NA,NA
chr20,31652550,31652550,G,A,R007_S,BPIFB3,Missense_Mutation,NM_182658,exon8,c.G823A,p.D275N,SNP,SNVindel,exonic,BPIFB3,NA,nonsynonymous SNV,BPIFB3:NM_182658:exon8:c.G823A:p.D275N,D,D,D,T,N,T
chr20,32217527,32217527,G,A,R007_S,CBFA2T2,Silent,NM_001032999,exon8,c.G1035A,p.A345A,SNP,SNVindel,exonic,CBFA2T2,NA,synonymous SNV,"CBFA2T2:NM_001032999:exon8:c.G1035A:p.A345A,CBFA2T2:NM_001039709:exon8:c.G975A:p.A325A,CBFA2T2:NM_005093:exon9:c.G1062A:p.A354A",NA,NA,NA,NA,NA,NA
chr20,32255501,32255501,C,T,R007_S,ACTL10,Silent,NM_001024675,exon1,c.C198T,p.D66D,SNP,SNVindel,exonic,ACTL10,NA,synonymous SNV,ACTL10:NM_001024675:exon1:c.C198T:p.D66D,NA,NA,NA,NA,NA,NA
chr20,32371630,32371630,G,A,R007_S,ZNF341,Silent,NM_001282935,exon11,c.G1542A,p.R514R,SNP,SNVindel,exonic,ZNF341,NA,synonymous SNV,"ZNF341:NM_001282935:exon11:c.G1542A:p.R514R,ZNF341:NM_001282933:exon12:c.G1812A:p.R604R,ZNF341:NM_032819:exon12:c.G1791A:p.R597R",NA,NA,NA,NA,NA,NA
chr20,32848222,32848222,C,T,R007_S,ASIP,Silent,NM_001672,exon1,c.C42T,p.F14F,SNP,SNVindel,exonic,ASIP,NA,synonymous SNV,ASIP:NM_001672:exon1:c.C42T:p.F14F,NA,NA,NA,NA,NA,NA
chr20,32879256,32879256,G,A,R007_S,AHCY,Missense_Mutation,NM_000687,exon5,c.C527T,p.P176L,SNP,SNVindel,exonic,AHCY,NA,nonsynonymous SNV,"AHCY:NM_000687:exon5:c.C527T:p.P176L,AHCY:NM_001161766:exon5:c.C443T:p.P148L,AHCY:NM_001322084:exon5:c.C443T:p.P148L,AHCY:NM_001322085:exon5:c.C443T:p.P148L,AHCY:NM_001322086:exon5:c.C533T:p.P178L,AHCY:NM_001362750:exon5:c.C527T:p.P176L",D,D,D,D,D,D
chr20,33231973,33231973,C,T,R007_S,PIGU,Missense_Mutation,NM_080476,exon4,c.G313A,p.V105I,SNP,SNVindel,exonic,PIGU,NA,nonsynonymous SNV,PIGU:NM_080476:exon4:c.G313A:p.V105I,T,N,D,.,N,T
chr20,33329136,33329136,C,T,R007_S,NCOA6,Missense_Mutation,NM_014071,exon11,c.G4924A,p.E1642K,SNP,SNVindel,exonic,NCOA6,NA,nonsynonymous SNV,"NCOA6:NM_014071:exon11:c.G4924A:p.E1642K,NCOA6:NM_001318240:exon12:c.G4924A:p.E1642K",D,D,D,T,N,T
chr20,33337322,33337322,C,T,R007_S,NCOA6,Silent,NM_001242539,exon7,c.G2676A,p.Q892Q,SNP,SNVindel,exonic,NCOA6,NA,synonymous SNV,"NCOA6:NM_001242539:exon7:c.G2676A:p.Q892Q,NCOA6:NM_014071:exon9:c.G2676A:p.Q892Q,NCOA6:NM_001318240:exon10:c.G2676A:p.Q892Q",NA,NA,NA,NA,NA,NA
chr20,33530370,33530370,G,A,R007_S,GSS,Missense_Mutation,NM_000178,exon5,c.C412T,p.P138S,SNP,SNVindel,exonic,GSS,NA,nonsynonymous SNV,"GSS:NM_000178:exon5:c.C412T:p.P138S,GSS:NM_001322494:exon5:c.C412T:p.P138S,GSS:NM_001322495:exon5:c.C412T:p.P138S",T,N,D,D,N,T
chr20,33533878,33533878,C,T,R007_S,GSS,Silent,NM_000178,exon3,c.G153A,p.T51T,SNP,SNVindel,exonic,GSS,NA,synonymous SNV,"GSS:NM_000178:exon3:c.G153A:p.T51T,GSS:NM_001322494:exon3:c.G153A:p.T51T,GSS:NM_001322495:exon3:c.G153A:p.T51T",NA,NA,NA,NA,NA,NA
chr20,33874629,33874629,G,A,R007_S,FAM83C,Silent,NM_178468,exon4,c.C1953T,p.P651P,SNP,SNVindel,exonic,FAM83C,NA,synonymous SNV,FAM83C:NM_178468:exon4:c.C1953T:p.P651P,NA,NA,NA,NA,NA,NA
chr20,34025400,34025400,G,A,R007_S,GDF5,Silent,NM_000557,exon1,c.C309T,p.G103G,SNP,SNVindel,exonic,GDF5,NA,synonymous SNV,"GDF5:NM_000557:exon1:c.C309T:p.G103G,GDF5:NM_001319138:exon3:c.C309T:p.G103G",NA,NA,NA,NA,NA,NA
chr20,34061695,34061695,G,A,R007_S,CEP250,Silent,NM_007186,exon14,c.G1389A,p.K463K,SNP,SNVindel,exonic,CEP250,NA,synonymous SNV,CEP250:NM_007186:exon14:c.G1389A:p.K463K,NA,NA,NA,NA,NA,NA
chr20,34085581,34085581,G,A,R007_S,CEP250,Missense_Mutation,NM_001318219,exon24,c.G1444A,p.E482K,SNP,SNVindel,exonic,CEP250,NA,nonsynonymous SNV,"CEP250:NM_001318219:exon24:c.G1444A:p.E482K,CEP250:NM_007186:exon26:c.G3340A:p.E1114K",D,D,D,T,D,T
chr20,34091645,34091645,C,T,R007_S,CEP250,Silent,NM_001318219,exon28,c.C3552T,p.D1184D,SNP,SNVindel,exonic,CEP250,NA,synonymous SNV,"CEP250:NM_001318219:exon28:c.C3552T:p.D1184D,CEP250:NM_007186:exon30:c.C5448T:p.D1816D",NA,NA,NA,NA,NA,NA
chr20,34096786,34096786,G,A,R007_S,CEP250,Silent,NM_001318219,exon31,c.G5025A,p.R1675R,SNP,SNVindel,exonic,CEP250,NA,synonymous SNV,"CEP250:NM_001318219:exon31:c.G5025A:p.R1675R,CEP250:NM_007186:exon33:c.G6921A:p.R2307R",NA,NA,NA,NA,NA,NA
chr20,34099351,34099351,G,A,R007_S,CEP250,Missense_Mutation,NM_001318219,exon33,c.G5329A,p.A1777T,SNP,SNVindel,exonic,CEP250,NA,nonsynonymous SNV,"CEP250:NM_001318219:exon33:c.G5329A:p.A1777T,CEP250:NM_007186:exon35:c.G7225A:p.A2409T",D,D,D,T,N,T
chr20,34099369,34099369,G,A,R007_S,CEP250,Missense_Mutation,NM_001318219,exon33,c.G5347A,p.D1783N,SNP,SNVindel,exonic,CEP250,NA,nonsynonymous SNV,"CEP250:NM_001318219:exon33:c.G5347A:p.D1783N,CEP250:NM_007186:exon35:c.G7243A:p.D2415N",D,D,D,T,N,D
chr20,34241555,34241555,G,A,R007_S,RBM12,Silent,NM_001198840,exon2,c.C1690T,p.L564L,SNP,SNVindel,exonic,RBM12,NA,synonymous SNV,"RBM12:NM_001198840:exon2:c.C1690T:p.L564L,RBM12:NM_001198838:exon3:c.C1690T:p.L564L,RBM12:NM_006047:exon3:c.C1690T:p.L564L,RBM12:NM_152838:exon3:c.C1690T:p.L564L",NA,NA,NA,NA,NA,NA
chr20,34571992,34571992,G,A,R007_S,CNBD2,Missense_Mutation,NM_001207076,exon5,c.G496A,p.D166N,SNP,SNVindel,exonic,CNBD2,NA,nonsynonymous SNV,"CNBD2:NM_001207076:exon5:c.G496A:p.D166N,CNBD2:NM_001365709:exon5:c.G496A:p.D166N,CNBD2:NM_080834:exon5:c.G496A:p.D166N",T,D,N,D,N,D
chr20,34596293,34596293,C,T,R007_S,CNBD2,Missense_Mutation,NM_001207076,exon9,c.C1045T,p.L349F,SNP,SNVindel,exonic,CNBD2,NA,nonsynonymous SNV,"CNBD2:NM_001207076:exon9:c.C1045T:p.L349F,CNBD2:NM_001365709:exon9:c.C1045T:p.L349F,CNBD2:NM_080834:exon9:c.C1045T:p.L349F",T,N,N,T,N,T
chr20,34611570,34611570,C,T,R007_S,CNBD2,Missense_Mutation,NM_001365709,exon11,c.C1316T,p.P439L,SNP,SNVindel,exonic,CNBD2,NA,nonsynonymous SNV,"CNBD2:NM_001365709:exon11:c.C1316T:p.P439L,CNBD2:NM_080834:exon11:c.C1304T:p.P435L",D,N,D,T,D,T
chr20,35422497,35422497,C,T,R007_S,SOGA1,Missense_Mutation,NM_080627,exon14,c.G3988A,p.A1330T,SNP,SNVindel,exonic,SOGA1,NA,nonsynonymous SNV,SOGA1:NM_080627:exon14:c.G3988A:p.A1330T,T,N,D,T,N,T
chr20,35444228,35444228,C,T,R007_S,SOGA1,Silent,NM_080627,exon5,c.G1617A,p.L539L,SNP,SNVindel,exonic,SOGA1,NA,synonymous SNV,"SOGA1:NM_080627:exon5:c.G1617A:p.L539L,SOGA1:NM_199181:exon5:c.G903A:p.L301L",NA,NA,NA,NA,NA,NA
chr20,35783521,35783521,G,A,R007_S,MROH8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MROH8,NA,unknown,UNKNOWN,D,D,D,T,D,T
chr20,35800419,35800419,G,A,R007_S,MROH8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MROH8,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr20,36147332,36147332,G,A,R007_S,BLCAP,Missense_Mutation,NM_001167821,exon2,c.C245T,p.P82L,SNP,SNVindel,exonic,BLCAP,NA,nonsynonymous SNV,"BLCAP:NM_001167821:exon2:c.C245T:p.P82L,BLCAP:NM_001167822:exon2:c.C245T:p.P82L,BLCAP:NM_001167823:exon2:c.C245T:p.P82L,BLCAP:NM_001317074:exon2:c.C245T:p.P82L,BLCAP:NM_001317075:exon2:c.C245T:p.P82L,BLCAP:NM_006698:exon2:c.C245T:p.P82L,BLCAP:NM_001167820:exon3:c.C245T:p.P82L",D,D,D,.,N,T
chr20,36488361,36488361,C,A,R007_S,CTNNBL1,Missense_Mutation,NM_030877,exon14,c.C1453A,p.R485S,SNP,SNVindel,exonic,CTNNBL1,NA,nonsynonymous SNV,"CTNNBL1:NM_030877:exon14:c.C1453A:p.R485S,CTNNBL1:NM_001281495:exon15:c.C1372A:p.R458S",D,D,D,T,D,T
chr20,36634764,36634764,G,A,R007_S,TTI1,Missense_Mutation,NM_001303457,exon3,c.C2338T,p.L780F,SNP,SNVindel,exonic,TTI1,NA,nonsynonymous SNV,"TTI1:NM_001303457:exon3:c.C2338T:p.L780F,TTI1:NM_014657:exon4:c.C2338T:p.L780F",T,N,N,T,N,T
chr20,36784314,36784314,G,A,R007_S,TGM2,Missense_Mutation,NM_001323318,exon2,c.C188T,p.T63I,SNP,SNVindel,exonic,TGM2,NA,nonsynonymous SNV,"TGM2:NM_001323318:exon2:c.C188T:p.T63I,TGM2:NM_004613:exon3:c.C368T:p.T123I,TGM2:NM_198951:exon3:c.C368T:p.T123I,TGM2:NM_001323316:exon4:c.C368T:p.T123I",T,N,D,D,N,D
chr20,36848138,36848138,C,T,R007_S,KIAA1755,Missense_Mutation,NM_001348708,exon9,c.G1403A,p.S468N,SNP,SNVindel,exonic,KIAA1755,NA,nonsynonymous SNV,"KIAA1755:NM_001348708:exon9:c.G1403A:p.S468N,KIAA1755:NM_001029864:exon11:c.G2450A:p.S817N",T,N,N,T,N,T
chr20,36952396,36952396,G,A,R007_S,BPI,Missense_Mutation,NM_001725,exon8,c.G893A,p.G298E,SNP,SNVindel,exonic,BPI,NA,nonsynonymous SNV,BPI:NM_001725:exon8:c.G893A:p.G298E,T,N,N,T,D,T
chr20,37182654,37182654,C,T,R007_S,RALGAPB,Nonsense_Mutation,NM_001282917,exon22,c.C3307T,p.Q1103X,SNP,SNVindel,exonic,RALGAPB,NA,stopgain,"RALGAPB:NM_001282917:exon22:c.C3307T:p.Q1103X,RALGAPB:NM_001282918:exon22:c.C3295T:p.Q1099X,RALGAPB:NM_020336:exon22:c.C3307T:p.Q1103X",.,D,A,.,.,.
chr20,37601247,37601247,G,A,R007_S,DHX35,Missense_Mutation,NM_021931,exon3,c.G220A,p.V74M,SNP,SNVindel,exonic,DHX35,NA,nonsynonymous SNV,DHX35:NM_021931:exon3:c.G220A:p.V74M,D,D,D,T,N,T
chr20,39791316,39791316,G,A,R007_S,PLCG1,Missense_Mutation,NM_002660,exon6,c.G632A,p.G211E,SNP,SNVindel,exonic,PLCG1,NA,nonsynonymous SNV,"PLCG1:NM_002660:exon6:c.G632A:p.G211E,PLCG1:NM_182811:exon6:c.G632A:p.G211E",T,N,D,T,N,T
chr20,39983331,39983331,G,A,R007_S,LPIN3,Missense_Mutation,NM_001301860,exon12,c.G1577A,p.G526E,SNP,SNVindel,exonic,LPIN3,NA,nonsynonymous SNV,"LPIN3:NM_001301860:exon12:c.G1577A:p.G526E,LPIN3:NM_022896:exon12:c.G1574A:p.G525E",T,D,D,D,D,D
chr20,39989980,39989980,G,A,R007_S,EMILIN3,Silent,NM_052846,exon4,c.C2229T,p.A743A,SNP,SNVindel,exonic,EMILIN3,NA,synonymous SNV,EMILIN3:NM_052846:exon4:c.C2229T:p.A743A,NA,NA,NA,NA,NA,NA
chr20,39991670,39991670,C,T,R007_S,EMILIN3,Missense_Mutation,NM_052846,exon4,c.G539A,p.G180D,SNP,SNVindel,exonic,EMILIN3,NA,nonsynonymous SNV,EMILIN3:NM_052846:exon4:c.G539A:p.G180D,T,D,D,T,N,T
chr20,40713418,40713418,G,A,R007_S,PTPRT,Missense_Mutation,NM_007050,exon29,c.C4040T,p.P1347L,SNP,SNVindel,exonic,PTPRT,NA,nonsynonymous SNV,"PTPRT:NM_007050:exon29:c.C4040T:p.P1347L,PTPRT:NM_133170:exon30:c.C4097T:p.P1366L",D,D,D,T,D,T
chr20,40790093,40790093,G,A,R007_S,PTPRT,Missense_Mutation,NM_007050,exon17,c.C2581T,p.P861S,SNP,SNVindel,exonic,PTPRT,NA,nonsynonymous SNV,"PTPRT:NM_007050:exon17:c.C2581T:p.P861S,PTPRT:NM_133170:exon18:c.C2638T:p.P880S",T,D,D,T,N,T
chr20,41101047,41101047,C,T,R007_S,PTPRT,Missense_Mutation,NM_007050,exon8,c.G1309A,p.A437T,SNP,SNVindel,exonic,PTPRT,NA,nonsynonymous SNV,"PTPRT:NM_007050:exon8:c.G1309A:p.A437T,PTPRT:NM_133170:exon8:c.G1309A:p.A437T",T,D,D,T,N,T
chr20,42315527,42315527,G,A,R007_S,MYBL2,Silent,NM_001278610,exon4,c.G243A,p.Q81Q,SNP,SNVindel,exonic,MYBL2,NA,synonymous SNV,"MYBL2:NM_001278610:exon4:c.G243A:p.Q81Q,MYBL2:NM_002466:exon5:c.G315A:p.Q105Q",NA,NA,NA,NA,NA,NA
chr20,42682966,42682966,G,A,R007_S,TOX2,Missense_Mutation,NM_001098796,exon5,c.G553A,p.D185N,SNP,SNVindel,exonic,TOX2,NA,nonsynonymous SNV,"TOX2:NM_001098796:exon5:c.G553A:p.D185N,TOX2:NM_001098797:exon5:c.G679A:p.D227N,TOX2:NM_001098798:exon5:c.G706A:p.D236N,TOX2:NM_032883:exon6:c.G553A:p.D185N",D,N,D,T,D,T
chr20,42695423,42695423,C,T,R007_S,TOX2,Silent,NM_001098798,exon7,c.C1356T,p.G452G,SNP,SNVindel,exonic,TOX2,NA,synonymous SNV,"TOX2:NM_001098798:exon7:c.C1356T:p.G452G,TOX2:NM_001098796:exon8:c.C1284T:p.G428G,TOX2:NM_001098797:exon8:c.C1410T:p.G470G,TOX2:NM_032883:exon9:c.C1284T:p.G428G",.,.,D,.,D,T
chr20,42965953,42965953,C,T,R007_S,R3HDML,Silent,NM_178491,exon1,c.C156T,p.Y52Y,SNP,SNVindel,exonic,R3HDML,NA,synonymous SNV,R3HDML:NM_178491:exon1:c.C156T:p.Y52Y,NA,NA,NA,NA,NA,NA
chr20,43056993,43056993,C,T,R007_S,HNF4A,Missense_Mutation,NM_000457,exon9,c.C1148T,p.P383L,SNP,SNVindel,exonic,HNF4A,NA,nonsynonymous SNV,"HNF4A:NM_000457:exon9:c.C1148T:p.P383L,HNF4A:NM_001030003:exon9:c.C1082T:p.P361L,HNF4A:NM_175914:exon9:c.C1082T:p.P361L,HNF4A:NM_178849:exon9:c.C1148T:p.P383L,HNF4A:NM_001258355:exon10:c.C1127T:p.P376L,HNF4A:NM_001287182:exon10:c.C1073T:p.P358L,HNF4A:NM_001287183:exon10:c.C1073T:p.P358L",D,D,D,T,N,T
chr20,43379206,43379206,C,T,R007_S,KCNK15,Silent,NM_022358,exon2,c.C720T,p.N240N,SNP,SNVindel,exonic,KCNK15,NA,synonymous SNV,KCNK15:NM_022358:exon2:c.C720T:p.N240N,NA,NA,NA,NA,NA,NA
chr20,43385664,43385664,C,T,R007_S,RIMS4,Missense_Mutation,NM_001205317,exon5,c.G469A,p.A157T,SNP,SNVindel,exonic,RIMS4,NA,nonsynonymous SNV,"RIMS4:NM_001205317:exon5:c.G469A:p.A157T,RIMS4:NM_182970:exon5:c.G466A:p.A156T",T,D,D,T,N,T
chr20,43530409,43530409,C,T,R007_S,YWHAB,Nonsense_Mutation,NM_139323,exon2,c.C235T,p.Q79X,SNP,SNVindel,exonic,YWHAB,NA,stopgain,"YWHAB:NM_139323:exon2:c.C235T:p.Q79X,YWHAB:NM_003404:exon3:c.C235T:p.Q79X",.,D,A,.,.,.
chr20,43930054,43930054,C,T,R007_S,MATN4,Missense_Mutation,NM_003833,exon5,c.G673A,p.G225R,SNP,SNVindel,exonic,MATN4,NA,nonsynonymous SNV,MATN4:NM_003833:exon5:c.G673A:p.G225R,.,D,D,D,D,D
chr20,43961701,43961701,C,T,R007_S,SDC4,Missense_Mutation,NM_002999,exon3,c.G208A,p.E70K,SNP,SNVindel,exonic,SDC4,NA,nonsynonymous SNV,SDC4:NM_002999:exon3:c.G208A:p.E70K,T,N,D,T,N,T
chr20,44038638,44038638,C,T,R007_S,DBNDD2,Missense_Mutation,NM_001048225,exon3,c.C650T,p.T217I,SNP,SNVindel,exonic,DBNDD2,NA,nonsynonymous SNV,"DBNDD2:NM_001048225:exon3:c.C650T:p.T217I,DBNDD2:NM_001048221:exon4:c.C344T:p.T115I,DBNDD2:NM_001048223:exon4:c.C344T:p.T115I,DBNDD2:NM_001197139:exon4:c.C344T:p.T115I,DBNDD2:NM_001197140:exon4:c.C344T:p.T115I,DBNDD2:NM_018478:exon4:c.C638T:p.T213I",T,N,D,T,N,T
chr20,44053162,44053162,C,T,R007_S,PIGT,Missense_Mutation,NM_001184730,exon9,c.C1121T,p.P374L,SNP,SNVindel,exonic,PIGT,NA,nonsynonymous SNV,"PIGT:NM_001184730:exon9:c.C1121T:p.P374L,PIGT:NM_001184728:exon10:c.C1259T:p.P420L,PIGT:NM_001184729:exon10:c.C1226T:p.P409L,PIGT:NM_015937:exon11:c.C1427T:p.P476L",D,D,D,T,D,T
chr20,44469285,44469285,C,T,R007_S,SNX21,Missense_Mutation,NM_001042632,exon4,c.C448T,p.P150S,SNP,SNVindel,exonic,SNX21,NA,nonsynonymous SNV,"SNX21:NM_001042632:exon4:c.C448T:p.P150S,SNX21:NM_033421:exon4:c.C455T:p.T152I,SNX21:NM_152897:exon4:c.C455T:p.T152I,SNX21:NM_001042633:exon5:c.C466T:p.P156S",D,D,D,T,D,T
chr20,44477237,44477237,C,T,R007_S,ACOT8,Missense_Mutation,NM_005469,exon3,c.G340A,p.A114T,SNP,SNVindel,exonic,ACOT8,NA,nonsynonymous SNV,ACOT8:NM_005469:exon3:c.G340A:p.A114T,D,D,D,.,D,D
chr20,44485903,44485903,C,T,R007_S,ACOT8,Missense_Mutation,NM_005469,exon1,c.G52A,p.D18N,SNP,SNVindel,exonic,ACOT8,NA,nonsynonymous SNV,ACOT8:NM_005469:exon1:c.G52A:p.D18N,T,N,N,.,N,T
chr20,44506809,44506809,G,A,R007_S,ZSWIM3,Missense_Mutation,NM_080752,exon2,c.G1612A,p.D538N,SNP,SNVindel,exonic,ZSWIM3,NA,nonsynonymous SNV,ZSWIM3:NM_080752:exon2:c.G1612A:p.D538N,T,N,N,T,N,T
chr20,44512609,44512609,G,A,R007_S,ZSWIM1,Missense_Mutation,NM_080603,exon2,c.G1378A,p.E460K,SNP,SNVindel,exonic,ZSWIM1,NA,nonsynonymous SNV,ZSWIM1:NM_080603:exon2:c.G1378A:p.E460K,T,U,D,T,N,T
chr20,44521913,44521913,G,A,R007_S,CTSA,Missense_Mutation,NM_001167594,exon6,c.G658A,p.V220I,SNP,SNVindel,exonic,CTSA,NA,nonsynonymous SNV,"CTSA:NM_001167594:exon6:c.G658A:p.V220I,CTSA:NM_000308:exon7:c.G709A:p.V237I,CTSA:NM_001127695:exon7:c.G655A:p.V219I",T,N,D,D,N,T
chr20,44572393,44572393,G,A,R007_S,PCIF1,Missense_Mutation,NM_022104,exon10,c.G994A,p.E332K,SNP,SNVindel,exonic,PCIF1,NA,nonsynonymous SNV,PCIF1:NM_022104:exon10:c.G994A:p.E332K,D,D,D,T,D,T
chr20,44592416,44592416,C,T,R007_S,ZNF335,Missense_Mutation,NM_022095,exon8,c.G1316A,p.G439D,SNP,SNVindel,exonic,ZNF335,NA,nonsynonymous SNV,ZNF335:NM_022095:exon8:c.G1316A:p.G439D,D,D,D,T,N,T
chr20,44681748,44681748,C,T,R007_S,SLC12A5,Silent,NM_001134771,exon19,c.C2599T,p.L867L,SNP,SNVindel,exonic,SLC12A5,NA,synonymous SNV,"SLC12A5:NM_001134771:exon19:c.C2599T:p.L867L,SLC12A5:NM_020708:exon19:c.C2530T:p.L844L",NA,NA,NA,NA,NA,NA
chr20,44985252,44985252,C,T,R007_S,SLC35C2,Missense_Mutation,NM_015945,exon4,c.G296A,p.G99D,SNP,SNVindel,exonic,SLC35C2,NA,nonsynonymous SNV,"SLC35C2:NM_015945:exon4:c.G296A:p.G99D,SLC35C2:NM_173073:exon4:c.G296A:p.G99D,SLC35C2:NM_173179:exon4:c.G296A:p.G99D,SLC35C2:NM_001281458:exon5:c.G383A:p.G128D,SLC35C2:NM_001281460:exon5:c.G296A:p.G99D",D,D,D,D,D,D
chr20,45174094,45174094,C,T,R007_S,OCSTAMP,Missense_Mutation,NM_080721,exon2,c.G919A,p.A307T,SNP,SNVindel,exonic,OCSTAMP,NA,nonsynonymous SNV,OCSTAMP:NM_080721:exon2:c.G919A:p.A307T,T,N,N,T,N,T
chr20,45174302,45174302,G,A,R007_S,OCSTAMP,Silent,NM_080721,exon2,c.C711T,p.L237L,SNP,SNVindel,exonic,OCSTAMP,NA,synonymous SNV,OCSTAMP:NM_080721:exon2:c.C711T:p.L237L,NA,NA,NA,NA,NA,NA
chr20,45353985,45353985,G,A,R007_S,SLC2A10,Missense_Mutation,NM_030777,exon2,c.G310A,p.G104S,SNP,SNVindel,exonic,SLC2A10,NA,nonsynonymous SNV,SLC2A10:NM_030777:exon2:c.G310A:p.G104S,D,D,D,T,D,D
chr20,47256399,47256399,C,T,R007_S,PREX1,Missense_Mutation,NM_020820,exon30,c.G3809A,p.G1270D,SNP,SNVindel,exonic,PREX1,NA,nonsynonymous SNV,PREX1:NM_020820:exon30:c.G3809A:p.G1270D,T,U,D,T,N,T
chr20,47589762,47589762,G,A,R007_S,ARFGEF2,Missense_Mutation,NM_006420,exon12,c.G1606A,p.D536N,SNP,SNVindel,exonic,ARFGEF2,NA,nonsynonymous SNV,ARFGEF2:NM_006420:exon12:c.G1606A:p.D536N,T,D,D,T,D,T
chr20,47606178,47606178,G,A,R007_S,ARFGEF2,Missense_Mutation,NM_006420,exon20,c.G2771A,p.G924D,SNP,SNVindel,exonic,ARFGEF2,NA,nonsynonymous SNV,ARFGEF2:NM_006420:exon20:c.G2771A:p.G924D,D,D,D,T,D,D
chr20,47855824,47855824,G,A,R007_S,DDX27,Missense_Mutation,NM_017895,exon16,c.G1939A,p.E647K,SNP,SNVindel,exonic,DDX27,NA,nonsynonymous SNV,"DDX27:NM_017895:exon16:c.G1939A:p.E647K,DDX27:NM_001348187:exon17:c.G2032A:p.E678K",T,N,D,T,N,D
chr20,47887104,47887104,C,T,R007_S,ZNFX1,Silent,NM_021035,exon3,c.G1245A,p.R415R,SNP,SNVindel,exonic,ZNFX1,NA,synonymous SNV,ZNFX1:NM_021035:exon3:c.G1245A:p.R415R,NA,NA,NA,NA,NA,NA
chr20,47990030,47990030,C,T,R007_S,KCNB1,Silent,NM_004975,exon2,c.G2067A,p.G689G,SNP,SNVindel,exonic,KCNB1,NA,synonymous SNV,KCNB1:NM_004975:exon2:c.G2067A:p.G689G,NA,NA,NA,NA,NA,NA
chr20,48253914,48253914,G,A,R007_S,B4GALT5,Missense_Mutation,NM_004776,exon8,c.C983T,p.P328L,SNP,SNVindel,exonic,B4GALT5,NA,nonsynonymous SNV,B4GALT5:NM_004776:exon8:c.C983T:p.P328L,T,D,D,D,D,D
chr20,48253942,48253942,C,T,R007_S,B4GALT5,Missense_Mutation,NM_004776,exon8,c.G955A,p.G319S,SNP,SNVindel,exonic,B4GALT5,NA,nonsynonymous SNV,B4GALT5:NM_004776:exon8:c.G955A:p.G319S,T,D,D,T,D,T
chr20,48259066,48259066,C,T,R007_S,B4GALT5,Missense_Mutation,NM_004776,exon5,c.G545A,p.R182K,SNP,SNVindel,exonic,B4GALT5,NA,nonsynonymous SNV,B4GALT5:NM_004776:exon5:c.G545A:p.R182K,T,N,N,T,N,T
chr20,48600836,48600836,G,A,R007_S,SNAI1,Silent,NM_005985,exon2,c.G558A,p.G186G,SNP,SNVindel,exonic,SNAI1,NA,synonymous SNV,SNAI1:NM_005985:exon2:c.G558A:p.G186G,NA,NA,NA,NA,NA,NA
chr20,49218846,49218846,C,T,R007_S,RIPOR3,Silent,NM_001290268,exon13,c.G1422A,p.R474R,SNP,SNVindel,exonic,RIPOR3,NA,synonymous SNV,"RIPOR3:NM_001290268:exon13:c.G1422A:p.R474R,RIPOR3:NM_080829:exon13:c.G1410A:p.R470R",NA,NA,NA,NA,NA,NA
chr20,49508910,49508910,G,A,R007_S,ADNP,Missense_Mutation,NM_001282532,exon4,c.C2341T,p.P781S,SNP,SNVindel,exonic,ADNP,NA,nonsynonymous SNV,"ADNP:NM_001282532:exon4:c.C2341T:p.P781S,ADNP:NM_181442:exon4:c.C2341T:p.P781S,ADNP:NM_001347511:exon5:c.C2341T:p.P781S,ADNP:NM_015339:exon5:c.C2341T:p.P781S,ADNP:NM_001282531:exon6:c.C2341T:p.P781S",D,D,D,D,D,D
chr20,49558653,49558653,C,T,R007_S,DPM1,Missense_Mutation,NM_001317034,exon6,c.G409A,p.E137K,SNP,SNVindel,exonic,DPM1,NA,nonsynonymous SNV,"DPM1:NM_001317034:exon6:c.G409A:p.E137K,DPM1:NM_001317035:exon6:c.G409A:p.E137K,DPM1:NM_001317036:exon6:c.G409A:p.E137K,DPM1:NM_003859:exon6:c.G409A:p.E137K",T,D,D,T,N,T
chr20,50140386,50140386,C,T,R007_S,NFATC2,Missense_Mutation,NM_001136021,exon2,c.G334A,p.D112N,SNP,SNVindel,exonic,NFATC2,NA,nonsynonymous SNV,"NFATC2:NM_001136021:exon2:c.G334A:p.D112N,NFATC2:NM_001258292:exon2:c.G334A:p.D112N,NFATC2:NM_012340:exon2:c.G394A:p.D132N,NFATC2:NM_173091:exon2:c.G394A:p.D132N",T,D,N,T,N,T
chr20,50406667,50406667,G,A,R007_S,SALL4,Silent,NM_020436,exon2,c.C2355T,p.F785F,SNP,SNVindel,exonic,SALL4,NA,synonymous SNV,SALL4:NM_020436:exon2:c.C2355T:p.F785F,NA,NA,NA,NA,NA,NA
chr20,50406821,50406821,C,T,R007_S,SALL4,Missense_Mutation,NM_020436,exon2,c.G2201A,p.G734E,SNP,SNVindel,exonic,SALL4,NA,nonsynonymous SNV,SALL4:NM_020436:exon2:c.G2201A:p.G734E,T,N,D,T,N,T
chr20,50701392,50701392,C,T,R007_S,ZFP64,Missense_Mutation,NM_001319146,exon5,c.G985A,p.D329N,SNP,SNVindel,exonic,ZFP64,NA,nonsynonymous SNV,"ZFP64:NM_001319146:exon5:c.G985A:p.D329N,ZFP64:NM_199427:exon9:c.G1642A:p.D548N",D,.,D,T,N,T
chr20,53266996,53266996,C,T,R007_S,DOK5,Missense_Mutation,NM_018431,exon8,c.C899T,p.P300L,SNP,SNVindel,exonic,DOK5,NA,nonsynonymous SNV,"DOK5:NM_018431:exon8:c.C899T:p.P300L,DOK5:NM_177959:exon8:c.C575T:p.P192L",D,D,D,D,D,D
chr20,54579045,54579045,C,T,R007_S,CBLN4,Silent,NM_080617,exon1,c.G183A,p.G61G,SNP,SNVindel,exonic,CBLN4,NA,synonymous SNV,CBLN4:NM_080617:exon1:c.G183A:p.G61G,NA,NA,NA,NA,NA,NA
chr20,54958051,54958051,A,G,R007_S,AURKA,Missense_Mutation,NM_003600,exon5,c.T556C,p.S186P,SNP,SNVindel,exonic,AURKA,NA,nonsynonymous SNV,"AURKA:NM_003600:exon5:c.T556C:p.S186P,AURKA:NM_198435:exon5:c.T556C:p.S186P,AURKA:NM_198437:exon5:c.T556C:p.S186P,AURKA:NM_001323303:exon6:c.T556C:p.S186P,AURKA:NM_001323304:exon6:c.T556C:p.S186P,AURKA:NM_198434:exon6:c.T556C:p.S186P,AURKA:NM_198436:exon6:c.T556C:p.S186P,AURKA:NM_001323305:exon7:c.T556C:p.S186P,AURKA:NM_198433:exon7:c.T556C:p.S186P",D,D,D,T,D,D
chr20,55027603,55027603,C,T,R007_S,CASS4,Silent,NM_001164114,exon5,c.C1209T,p.G403G,SNP,SNVindel,exonic,CASS4,NA,synonymous SNV,"CASS4:NM_001164114:exon5:c.C1209T:p.G403G,CASS4:NM_020356:exon5:c.C1371T:p.G457G,CASS4:NM_001164116:exon6:c.C1371T:p.G457G",NA,NA,NA,NA,NA,NA
chr20,55066764,55066764,G,A,R007_S,GCNT7,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,GCNT7,NA,unknown,UNKNOWN,.,N,D,T,D,T
chr20,56075435,56075435,G,A,R007_S,CTCFL,Silent,NM_001269054,exon9,c.C1086T,p.L362L,SNP,SNVindel,exonic,CTCFL,NA,synonymous SNV,"CTCFL:NM_001269054:exon9:c.C1086T:p.L362L,CTCFL:NM_001269044:exon10:c.C1872T:p.L624L,CTCFL:NM_001269049:exon10:c.C1257T:p.L419L",NA,NA,NA,NA,NA,NA
chr20,56098919,56098919,G,A,R007_S,CTCFL,Missense_Mutation,NM_001269041,exon1,c.C343T,p.P115S,SNP,SNVindel,exonic,CTCFL,NA,nonsynonymous SNV,"CTCFL:NM_001269041:exon1:c.C343T:p.P115S,CTCFL:NM_001269044:exon1:c.C343T:p.P115S,CTCFL:NM_001269048:exon1:c.C343T:p.P115S,CTCFL:NM_001269052:exon1:c.C343T:p.P115S,CTCFL:NM_001269040:exon2:c.C343T:p.P115S,CTCFL:NM_001269042:exon2:c.C343T:p.P115S,CTCFL:NM_001269043:exon2:c.C343T:p.P115S,CTCFL:NM_001269045:exon2:c.C343T:p.P115S,CTCFL:NM_001269046:exon2:c.C343T:p.P115S,CTCFL:NM_001269047:exon2:c.C343T:p.P115S,CTCFL:NM_001269051:exon2:c.C343T:p.P115S,CTCFL:NM_080618:exon3:c.C343T:p.P115S",T,N,N,T,N,T
chr20,56138219,56138219,G,A,R007_S,PCK1,Missense_Mutation,NM_002591,exon5,c.G746A,p.R249K,SNP,SNVindel,exonic,PCK1,NA,nonsynonymous SNV,PCK1:NM_002591:exon5:c.G746A:p.R249K,D,D,D,T,N,T
chr20,57035915,57035915,C,T,R007_S,APCDD1L,Silent,NM_153360,exon4,c.G1437A,p.G479G,SNP,SNVindel,exonic,APCDD1L,NA,synonymous SNV,"APCDD1L:NM_153360:exon4:c.G1437A:p.G479G,APCDD1L:NM_001304787:exon5:c.G1470A:p.G490G",NA,NA,NA,NA,NA,NA
chr20,57266834,57266834,G,A,R007_S,NPEPL1,Missense_Mutation,NM_001204872,exon2,c.G14A,p.G5E,SNP,SNVindel,exonic,NPEPL1,NA,nonsynonymous SNV,"NPEPL1:NM_001204872:exon2:c.G14A:p.G5E,NPEPL1:NM_001204873:exon2:c.G4A:p.E2K",T,.,N,T,N,T
chr20,57484459,57484459,G,A,R007_S,GNAS,Missense_Mutation,NM_001077489,exon7,c.G595A,p.V199M,SNP,SNVindel,exonic,GNAS,NA,nonsynonymous SNV,"GNAS:NM_001077489:exon7:c.G595A:p.V199M,GNAS:NM_080426:exon7:c.G598A:p.V200M,GNAS:NM_000516:exon8:c.G640A:p.V214M,GNAS:NM_001077488:exon8:c.G643A:p.V215M,GNAS:NM_001309840:exon8:c.G463A:p.V155M,GNAS:NM_001309861:exon8:c.G463A:p.V155M,GNAS:NM_080425:exon8:c.G2569A:p.V857M",D,D,D,D,D,D
chr20,57767332,57767332,G,A,R007_S,ZNF831,Missense_Mutation,NM_178457,exon1,c.G1258A,p.D420N,SNP,SNVindel,exonic,ZNF831,NA,nonsynonymous SNV,ZNF831:NM_178457:exon1:c.G1258A:p.D420N,D,.,D,T,D,T
chr20,57767808,57767808,C,T,R007_S,ZNF831,Silent,NM_178457,exon1,c.C1734T,p.A578A,SNP,SNVindel,exonic,ZNF831,NA,synonymous SNV,ZNF831:NM_178457:exon1:c.C1734T:p.A578A,NA,NA,NA,NA,NA,NA
chr20,58318203,58318203,G,A,R007_S,PHACTR3,Missense_Mutation,NM_001199505,exon2,c.G151A,p.V51I,SNP,SNVindel,exonic,PHACTR3,NA,nonsynonymous SNV,"PHACTR3:NM_001199505:exon2:c.G151A:p.V51I,PHACTR3:NM_001199506:exon2:c.G37A:p.V13I,PHACTR3:NM_001281507:exon2:c.G37A:p.V13I,PHACTR3:NM_080672:exon2:c.G160A:p.V54I,PHACTR3:NM_183244:exon2:c.G37A:p.V13I,PHACTR3:NM_183246:exon2:c.G37A:p.V13I",T,N,D,T,N,T
chr20,58514200,58514200,C,T,R007_S,PPP1R3D,Missense_Mutation,NM_006242,exon1,c.G787A,p.G263S,SNP,SNVindel,exonic,PPP1R3D,NA,nonsynonymous SNV,PPP1R3D:NM_006242:exon1:c.G787A:p.G263S,D,D,D,T,D,D
chr20,58514284,58514284,C,T,R007_S,PPP1R3D,Missense_Mutation,NM_006242,exon1,c.G703A,p.V235I,SNP,SNVindel,exonic,PPP1R3D,NA,nonsynonymous SNV,PPP1R3D:NM_006242:exon1:c.G703A:p.V235I,T,N,D,T,N,T
chr20,60318769,60318769,G,A,R007_S,CDH4,Missense_Mutation,NM_001252338,exon2,c.G209A,p.S70N,SNP,SNVindel,exonic,CDH4,NA,nonsynonymous SNV,"CDH4:NM_001252338:exon2:c.G209A:p.S70N,CDH4:NM_001252339:exon2:c.G98A:p.S33N,CDH4:NM_001794:exon3:c.G320A:p.S107N",T,N,N,T,N,T
chr20,60589641,60589641,G,A,R007_S,TAF4,Missense_Mutation,NM_003185,exon2,c.C1483T,p.P495S,SNP,SNVindel,exonic,TAF4,NA,nonsynonymous SNV,TAF4:NM_003185:exon2:c.C1483T:p.P495S,D,D,D,T,D,T
chr20,60735006,60735006,C,T,R007_S,SS18L1,Silent,NM_198935,exon3,c.C220T,p.L74L,SNP,SNVindel,exonic,SS18L1,NA,synonymous SNV,SS18L1:NM_198935:exon3:c.C220T:p.L74L,NA,NA,NA,NA,NA,NA
chr20,60909386,60909386,G,A,R007_S,LAMA5,Silent,NM_005560,exon22,c.C2595T,p.D865D,SNP,SNVindel,exonic,LAMA5,NA,synonymous SNV,LAMA5:NM_005560:exon22:c.C2595T:p.D865D,NA,NA,NA,NA,NA,NA
chr20,60921799,60921799,C,T,R007_S,LAMA5,Missense_Mutation,NM_005560,exon8,c.G1130A,p.R377H,SNP,SNVindel,exonic,LAMA5,NA,nonsynonymous SNV,LAMA5:NM_005560:exon8:c.G1130A:p.R377H,T,N,N,T,N,T
chr20,61444272,61444272,C,T,R007_S,OGFR,Silent,NM_007346,exon7,c.C1305T,p.D435D,SNP,SNVindel,exonic,OGFR,NA,synonymous SNV,OGFR:NM_007346:exon7:c.C1305T:p.D435D,NA,NA,NA,NA,NA,NA
chr20,61869268,61869268,G,A,R007_S,BIRC7,Silent,NM_022161,exon2,c.G363A,p.K121K,SNP,SNVindel,exonic,BIRC7,NA,synonymous SNV,"BIRC7:NM_022161:exon2:c.G363A:p.K121K,BIRC7:NM_139317:exon2:c.G363A:p.K121K",NA,NA,NA,NA,NA,NA
chr20,61926529,61926529,G,A,R007_S,COL20A1,Missense_Mutation,NM_020882,exon2,c.G70A,p.E24K,SNP,SNVindel,exonic,COL20A1,NA,nonsynonymous SNV,COL20A1:NM_020882:exon2:c.G70A:p.E24K,T,U,N,D,N,T
chr20,61947944,61947944,C,T,R007_S,COL20A1,Missense_Mutation,NM_020882,exon21,c.C2564T,p.A855V,SNP,SNVindel,exonic,COL20A1,NA,nonsynonymous SNV,COL20A1:NM_020882:exon21:c.C2564T:p.A855V,D,N,N,D,N,T
chr20,61981457,61981457,C,T,R007_S,CHRNA4,Missense_Mutation,NM_000744,exon5,c.G1306A,p.E436K,SNP,SNVindel,exonic,CHRNA4,NA,nonsynonymous SNV,"CHRNA4:NM_000744:exon5:c.G1306A:p.E436K,CHRNA4:NM_001256573:exon5:c.G778A:p.E260K",T,N,N,T,N,T
chr20,61982072,61982072,G,A,R007_S,CHRNA4,Missense_Mutation,NM_000744,exon5,c.C691T,p.P231S,SNP,SNVindel,exonic,CHRNA4,NA,nonsynonymous SNV,"CHRNA4:NM_000744:exon5:c.C691T:p.P231S,CHRNA4:NM_001256573:exon5:c.C163T:p.P55S",T,N,D,T,N,T
chr20,61982223,61982223,G,A,R007_S,CHRNA4,Silent,NM_000744,exon5,c.C540T,p.G180G,SNP,SNVindel,exonic,CHRNA4,NA,synonymous SNV,"CHRNA4:NM_000744:exon5:c.C540T:p.G180G,CHRNA4:NM_001256573:exon5:c.C12T:p.G4G",NA,NA,NA,NA,NA,NA
chr20,61987366,61987366,G,A,R007_S,CHRNA4,Missense_Mutation,NM_000744,exon4,c.C344T,p.S115F,SNP,SNVindel,exonic,CHRNA4,NA,nonsynonymous SNV,CHRNA4:NM_000744:exon4:c.C344T:p.S115F,D,N,D,T,D,D
chr20,62129019,62129019,C,T,R007_S,EEF1A2,Missense_Mutation,NM_001958,exon2,c.G98A,p.G33D,SNP,SNVindel,exonic,EEF1A2,NA,nonsynonymous SNV,EEF1A2:NM_001958:exon2:c.G98A:p.G33D,D,D,D,T,D,D
chr20,62162186,62162186,G,A,R007_S,PTK6,Silent,NM_005975,exon6,c.C927T,p.I309I,SNP,SNVindel,exonic,PTK6,NA,synonymous SNV,PTK6:NM_005975:exon6:c.C927T:p.I309I,NA,NA,NA,NA,NA,NA
chr20,62172257,62172257,C,T,R007_S,SRMS,Missense_Mutation,NM_080823,exon8,c.G1381A,p.E461K,SNP,SNVindel,exonic,SRMS,NA,nonsynonymous SNV,SRMS:NM_080823:exon8:c.G1381A:p.E461K,T,N,D,D,N,T
chr20,62192220,62192220,G,A,R007_S,HELZ2,Silent,NM_033405,exon10,c.C5502T,p.N1834N,SNP,SNVindel,exonic,HELZ2,NA,synonymous SNV,"HELZ2:NM_033405:exon10:c.C5502T:p.N1834N,HELZ2:NM_001037335:exon16:c.C7209T:p.N2403N",NA,NA,NA,NA,NA,NA
chr20,62192716,62192716,C,T,R007_S,HELZ2,Missense_Mutation,NM_033405,exon8,c.G5233A,p.E1745K,SNP,SNVindel,exonic,HELZ2,NA,nonsynonymous SNV,"HELZ2:NM_033405:exon8:c.G5233A:p.E1745K,HELZ2:NM_001037335:exon14:c.G6940A:p.E2314K",D,N,D,D,N,T
chr20,62197113,62197113,G,A,R007_S,HELZ2,Missense_Mutation,NM_033405,exon3,c.C1355T,p.A452V,SNP,SNVindel,exonic,HELZ2,NA,nonsynonymous SNV,"HELZ2:NM_033405:exon3:c.C1355T:p.A452V,HELZ2:NM_001037335:exon9:c.C3062T:p.A1021V",D,N,N,T,N,T
chr20,62199846,62199846,C,T,R007_S,HELZ2,Missense_Mutation,NM_001037335,exon6,c.G1595A,p.G532E,SNP,SNVindel,exonic,HELZ2,NA,nonsynonymous SNV,HELZ2:NM_001037335:exon6:c.G1595A:p.G532E,T,N,N,T,N,T
chr20,62200782,62200782,C,T,R007_S,HELZ2,Silent,NM_001037335,exon5,c.G807A,p.L269L,SNP,SNVindel,exonic,HELZ2,NA,synonymous SNV,HELZ2:NM_001037335:exon5:c.G807A:p.L269L,NA,NA,NA,NA,NA,NA
chr20,62319908,62319908,G,A,R007_S,RTEL1,Missense_Mutation,NM_001283010,exon20,c.G1081A,p.A361T,SNP,SNVindel,exonic,RTEL1,NA,nonsynonymous SNV,"RTEL1:NM_001283010:exon20:c.G1081A:p.A361T,RTEL1:NM_001283009:exon21:c.G1750A:p.A584T,RTEL1:NM_016434:exon21:c.G1750A:p.A584T,RTEL1:NM_032957:exon21:c.G1822A:p.A608T",T,N,N,D,N,T
chr20,62328262,62328262,G,A,R007_S,TNFRSF6B,Missense_Mutation,NM_003823,exon1,c.G142A,p.V48M,SNP,SNVindel,exonic,TNFRSF6B,NA,nonsynonymous SNV,TNFRSF6B:NM_003823:exon1:c.G142A:p.V48M,T,.,N,T,N,T
chr20,62366085,62366085,G,A,R007_S,ZGPAT,Silent,NM_001083113,exon5,c.G900A,p.G300G,SNP,SNVindel,exonic,ZGPAT,NA,synonymous SNV,"ZGPAT:NM_001083113:exon5:c.G900A:p.G300G,ZGPAT:NM_001195653:exon5:c.G900A:p.G300G,ZGPAT:NM_001195654:exon5:c.G873A:p.G291G,ZGPAT:NM_032527:exon5:c.G960A:p.G320G,ZGPAT:NM_181485:exon5:c.G900A:p.G300G",NA,NA,NA,NA,NA,NA
chr20,62370177,62370177,G,A,R007_S,LIME1,Missense_Mutation,NM_017806,exon6,c.G812A,p.G271E,SNP,SNVindel,exonic,LIME1,NA,nonsynonymous SNV,LIME1:NM_017806:exon6:c.G812A:p.G271E,D,.,N,T,N,T
chr20,62582170,62582170,G,A,R007_S,UCKL1,Missense_Mutation,NM_001193379,exon1,c.C10T,p.P4S,SNP,SNVindel,exonic,UCKL1,NA,nonsynonymous SNV,"UCKL1:NM_001193379:exon1:c.C10T:p.P4S,UCKL1:NM_001353478:exon1:c.C10T:p.P4S,UCKL1:NM_001353479:exon1:c.C10T:p.P4S",T,.,D,.,N,T
chr20,62598817,62598817,G,A,R007_S,ZNF512B,Missense_Mutation,NM_020713,exon3,c.C181T,p.P61S,SNP,SNVindel,exonic,ZNF512B,NA,nonsynonymous SNV,ZNF512B:NM_020713:exon3:c.C181T:p.P61S,T,N,N,T,N,T
chr20,62642657,62642657,G,A,R007_S,PRPF6,Missense_Mutation,NM_012469,exon11,c.G1325A,p.R442K,SNP,SNVindel,exonic,PRPF6,NA,nonsynonymous SNV,PRPF6:NM_012469:exon11:c.G1325A:p.R442K,T,D,D,T,N,T
chr20,62658961,62658961,G,A,R007_S,PRPF6,Silent,NM_012469,exon17,c.G2211A,p.K737K,SNP,SNVindel,exonic,PRPF6,NA,synonymous SNV,PRPF6:NM_012469:exon17:c.G2211A:p.K737K,NA,NA,NA,NA,NA,NA
chr20,62705384,62705384,G,A,R007_S,RGS19,Missense_Mutation,NM_001039467,exon6,c.C476T,p.S159F,SNP,SNVindel,exonic,RGS19,NA,nonsynonymous SNV,"RGS19:NM_001039467:exon6:c.C476T:p.S159F,RGS19:NM_005873:exon6:c.C476T:p.S159F",T,D,D,T,D,T
chr20,62839399,62839399,G,A,R007_S,MYT1,Missense_Mutation,NM_004535,exon7,c.G850A,p.E284K,SNP,SNVindel,exonic,MYT1,NA,nonsynonymous SNV,MYT1:NM_004535:exon7:c.G850A:p.E284K,D,N,D,T,N,T
chr20,62854509,62854509,C,T,R007_S,MYT1,Silent,NM_004535,exon15,c.C2442T,p.N814N,SNP,SNVindel,exonic,MYT1,NA,synonymous SNV,MYT1:NM_004535:exon15:c.C2442T:p.N814N,NA,NA,NA,NA,NA,NA
chr21,11058248,11058248,G,A,R007_S,BAGE2,Silent,NM_182481,exon3,c.C192T,p.I64I,SNP,SNVindel,exonic,BAGE2;BAGE3,NA,synonymous SNV,"BAGE3:NM_182481:exon3:c.C192T:p.I64I,BAGE2:NM_182482:exon3:c.C192T:p.I64I",NA,NA,NA,NA,NA,NA
chr21,26973760,26973760,G,A,R007_S,MRPL39,Missense_Mutation,NM_017446,exon4,c.C440T,p.A147V,SNP,SNVindel,exonic,MRPL39,NA,nonsynonymous SNV,"MRPL39:NM_017446:exon4:c.C440T:p.A147V,MRPL39:NM_080794:exon4:c.C440T:p.A147V",D,D,D,T,D,D
chr21,27269985,27269985,C,T,R007_S,APP,Missense_Mutation,NM_001136129,exon13,c.G1571A,p.G524D,SNP,SNVindel,exonic,APP,NA,nonsynonymous SNV,"APP:NM_001136129:exon13:c.G1571A:p.G524D,APP:NM_001204303:exon13:c.G1685A:p.G562D,APP:NM_001136131:exon14:c.G1634A:p.G545D,APP:NM_001204302:exon14:c.G1853A:p.G618D,APP:NM_201414:exon14:c.G1739A:p.G580D,APP:NM_001136016:exon15:c.G1892A:p.G631D,APP:NM_001136130:exon15:c.G1796A:p.G599D,APP:NM_001204301:exon15:c.G1910A:p.G637D,APP:NM_201413:exon15:c.G1907A:p.G636D,APP:NM_000484:exon16:c.G1964A:p.G655D",T,D,D,D,N,D
chr21,28296722,28296722,C,T,R007_S,ADAMTS5,Missense_Mutation,NM_007038,exon8,c.G2443A,p.D815N,SNP,SNVindel,exonic,ADAMTS5,NA,nonsynonymous SNV,ADAMTS5:NM_007038:exon8:c.G2443A:p.D815N,T,D,D,T,N,T
chr21,28338457,28338457,C,T,R007_S,ADAMTS5,Missense_Mutation,NM_007038,exon1,c.G254A,p.G85D,SNP,SNVindel,exonic,ADAMTS5,NA,nonsynonymous SNV,ADAMTS5:NM_007038:exon1:c.G254A:p.G85D,D,D,D,T,N,T
chr21,30257541,30257541,G,A,R007_S,N6AMT1,Silent,NM_013240,exon1,c.C127T,p.L43L,SNP,SNVindel,exonic,N6AMT1,NA,synonymous SNV,"N6AMT1:NM_013240:exon1:c.C127T:p.L43L,N6AMT1:NM_182749:exon1:c.C127T:p.L43L",NA,NA,NA,NA,NA,NA
chr21,30949420,30949420,G,A,R007_S,GRIK1,Missense_Mutation,NM_001320618,exon11,c.C1577T,p.S526F,SNP,SNVindel,exonic,GRIK1,NA,nonsynonymous SNV,"GRIK1:NM_001320618:exon11:c.C1577T:p.S526F,GRIK1:NM_001320621:exon11:c.C1523T:p.S508F,GRIK1:NM_001330993:exon13:c.C1949T:p.S650F,GRIK1:NM_175611:exon13:c.C1949T:p.S650F,GRIK1:NM_000830:exon14:c.C1994T:p.S665F,GRIK1:NM_001320616:exon14:c.C1994T:p.S665F,GRIK1:NM_001330994:exon14:c.C1994T:p.S665F",D,D,D,D,D,D
chr21,31538338,31538338,G,A,R007_S,CLDN17,Missense_Mutation,NM_012131,exon1,c.C598T,p.P200S,SNP,SNVindel,exonic,CLDN17,NA,nonsynonymous SNV,CLDN17:NM_012131:exon1:c.C598T:p.P200S,T,N,N,T,N,T
chr21,31709649,31709649,G,A,R007_S,KRTAP27-1,Missense_Mutation,NM_001077711,exon1,c.C338T,p.S113F,SNP,SNVindel,exonic,KRTAP27-1,NA,nonsynonymous SNV,KRTAP27-1:NM_001077711:exon1:c.C338T:p.S113F,D,N,N,T,D,T
chr21,33686938,33686938,G,A,R007_S,MRAP,Missense_Mutation,NM_206898,exon5,c.G283A,p.A95T,SNP,SNVindel,exonic,MRAP,NA,nonsynonymous SNV,MRAP:NM_206898:exon5:c.G283A:p.A95T,T,.,N,D,N,T
chr21,33706479,33706479,G,A,R007_S,URB1,Missense_Mutation,NM_014825,exon29,c.C4850T,p.P1617L,SNP,SNVindel,exonic,URB1,NA,nonsynonymous SNV,URB1:NM_014825:exon29:c.C4850T:p.P1617L,T,N,D,T,N,T
chr21,33975538,33975538,C,T,R007_S,C21orf59-TCP10L,Missense_Mutation,NM_001350334,exon4,c.G302A,p.R101K,SNP,SNVindel,exonic,C21orf59-TCP10L;CFAP298,NA,nonsynonymous SNV,"CFAP298:NM_001350334:exon4:c.G302A:p.R101K,CFAP298:NM_001350335:exon5:c.G599A:p.R200K,CFAP298:NM_001350336:exon5:c.G599A:p.R200K,CFAP298:NM_001350337:exon5:c.G599A:p.R200K,C21orf59-TCP10L:NM_001350338:exon5:c.G599A:p.R200K,CFAP298:NM_021254:exon5:c.G599A:p.R200K",T,D,N,.,N,T
chr21,34123455,34123455,G,A,R007_S,PAXBP1,Missense_Mutation,NM_013329,exon9,c.C1582T,p.R528C,SNP,SNVindel,exonic,PAXBP1,NA,nonsynonymous SNV,"PAXBP1:NM_013329:exon9:c.C1582T:p.R528C,PAXBP1:NM_016631:exon9:c.C1582T:p.R528C",D,D,D,T,D,T
chr21,34143864,34143864,C,T,R007_S,PAXBP1,Missense_Mutation,NM_013329,exon1,c.G116A,p.G39D,SNP,SNVindel,exonic,PAXBP1,NA,nonsynonymous SNV,"PAXBP1:NM_013329:exon1:c.G116A:p.G39D,PAXBP1:NM_016631:exon1:c.G116A:p.G39D",D,N,N,T,N,T
chr21,34635685,34635685,G,A,R007_S,IFNAR2,Silent,NM_001289125,exon9,c.G1428A,p.G476G,SNP,SNVindel,exonic,IFNAR2,NA,synonymous SNV,"IFNAR2:NM_001289125:exon9:c.G1428A:p.G476G,IFNAR2:NM_207585:exon9:c.G1428A:p.G476G",NA,NA,NA,NA,NA,NA
chr21,34655494,34655494,G,A,R007_S,IL10RB,Silent,NM_000628,exon5,c.G594A,p.R198R,SNP,SNVindel,exonic,IL10RB,NA,synonymous SNV,IL10RB:NM_000628:exon5:c.G594A:p.R198R,NA,NA,NA,NA,NA,NA
chr21,34715676,34715676,G,A,R007_S,IFNAR1,Missense_Mutation,NM_000629,exon4,c.G479A,p.G160D,SNP,SNVindel,exonic,IFNAR1,NA,nonsynonymous SNV,IFNAR1:NM_000629:exon4:c.G479A:p.G160D,T,N,N,T,N,T
chr21,34924143,34924143,G,A,R007_S,SON,Missense_Mutation,NM_001291411,exon3,c.G2606A,p.G869D,SNP,SNVindel,exonic,SON,NA,nonsynonymous SNV,"SON:NM_001291411:exon3:c.G2606A:p.G869D,SON:NM_032195:exon3:c.G2606A:p.G869D,SON:NM_138927:exon3:c.G2606A:p.G869D",D,N,D,D,N,D
chr21,34924230,34924230,C,T,R007_S,SON,Missense_Mutation,NM_001291411,exon3,c.C2693T,p.S898F,SNP,SNVindel,exonic,SON,NA,nonsynonymous SNV,"SON:NM_001291411:exon3:c.C2693T:p.S898F,SON:NM_032195:exon3:c.C2693T:p.S898F,SON:NM_138927:exon3:c.C2693T:p.S898F",D,D,D,T,N,T
chr21,36259342,36259342,C,T,R007_S,RUNX1,Missense_Mutation,NM_001001890,exon1,c.G68A,p.G23D,SNP,SNVindel,exonic,RUNX1,NA,nonsynonymous SNV,"RUNX1:NM_001001890:exon1:c.G68A:p.G23D,RUNX1:NM_001122607:exon1:c.G68A:p.G23D,RUNX1:NM_001754:exon4:c.G149A:p.G50D",D,D,D,D,D,D
chr21,37445096,37445096,C,T,R007_S,CBR1,Silent,NM_001757,exon3,c.C750T,p.T250T,SNP,SNVindel,exonic,CBR1,NA,synonymous SNV,CBR1:NM_001757:exon3:c.C750T:p.T250T,NA,NA,NA,NA,NA,NA
chr21,37591766,37591766,C,T,R007_S,DOP1B,Missense_Mutation,NM_001320714,exon10,c.C1226T,p.T409I,SNP,SNVindel,exonic,DOP1B,NA,nonsynonymous SNV,"DOP1B:NM_001320714:exon10:c.C1226T:p.T409I,DOP1B:NM_005128:exon10:c.C1226T:p.T409I",T,N,N,T,N,T
chr21,37618070,37618070,G,A,R007_S,DOP1B,Silent,NM_001320714,exon19,c.G3792A,p.R1264R,SNP,SNVindel,exonic,DOP1B,NA,synonymous SNV,"DOP1B:NM_001320714:exon19:c.G3792A:p.R1264R,DOP1B:NM_005128:exon19:c.G3792A:p.R1264R",NA,NA,NA,NA,NA,NA
chr21,37635913,37635913,G,A,R007_S,DOP1B,Silent,NM_001320714,exon25,c.G5385A,p.L1795L,SNP,SNVindel,exonic,DOP1B,NA,synonymous SNV,"DOP1B:NM_001320714:exon25:c.G5385A:p.L1795L,DOP1B:NM_005128:exon25:c.G5385A:p.L1795L",NA,NA,NA,NA,NA,NA
chr21,38309144,38309144,G,A,R007_S,HLCS,Silent,NM_001352514,exon4,c.C1042T,p.L348L,SNP,SNVindel,exonic,HLCS,NA,synonymous SNV,"HLCS:NM_001352514:exon4:c.C1042T:p.L348L,HLCS:NM_001352515:exon4:c.C601T:p.L201L,HLCS:NM_001352516:exon4:c.C601T:p.L201L,HLCS:NM_001352517:exon4:c.C601T:p.L201L,HLCS:NM_001352518:exon4:c.C601T:p.L201L,HLCS:NM_000411:exon5:c.C601T:p.L201L,HLCS:NM_001242784:exon5:c.C601T:p.L201L,HLCS:NM_001242785:exon5:c.C601T:p.L201L",NA,NA,NA,NA,NA,NA
chr21,38538824,38538824,G,A,R007_S,TTC3,Silent,NM_001353938,exon23,c.G2142A,p.E714E,SNP,SNVindel,exonic,TTC3,NA,synonymous SNV,"TTC3:NM_001353938:exon23:c.G2142A:p.E714E,TTC3:NM_001330681:exon24:c.G3378A:p.E1126E,TTC3:NM_001330682:exon24:c.G3378A:p.E1126E,TTC3:NM_001353936:exon24:c.G3378A:p.E1126E,TTC3:NM_001353937:exon32:c.G2142A:p.E714E,TTC3:NM_001001894:exon33:c.G4308A:p.E1436E,TTC3:NM_001330683:exon33:c.G4308A:p.E1436E,TTC3:NM_003316:exon33:c.G4308A:p.E1436E,TTC3:NM_001320703:exon34:c.G4428A:p.E1476E,TTC3:NM_001320704:exon34:c.G4362A:p.E1454E",NA,NA,NA,NA,NA,NA
chr21,39772454,39772454,G,A,R007_S,ERG,Missense_Mutation,NM_001291391,exon8,c.C808T,p.P270S,SNP,SNVindel,exonic,ERG,NA,nonsynonymous SNV,ERG:NM_001291391:exon8:c.C808T:p.P270S,NA,NA,NA,NA,NA,NA
chr21,40569218,40569218,C,T,R007_S,BRWD1,Missense_Mutation,NM_018963,exon41,c.G5777A,p.R1926K,SNP,SNVindel,exonic,BRWD1,NA,nonsynonymous SNV,"BRWD1:NM_018963:exon41:c.G5777A:p.R1926K,BRWD1:NM_033656:exon41:c.G5777A:p.R1926K",T,N,N,T,N,T
chr21,40597043,40597043,G,A,R007_S,BRWD1,Missense_Mutation,NM_018963,exon28,c.C3289T,p.P1097S,SNP,SNVindel,exonic,BRWD1,NA,nonsynonymous SNV,"BRWD1:NM_018963:exon28:c.C3289T:p.P1097S,BRWD1:NM_033656:exon28:c.C3289T:p.P1097S",D,D,D,T,D,D
chr21,42830679,42830679,C,T,R007_S,MX1,Missense_Mutation,NM_001282920,exon10,c.C1498T,p.R500W,SNP,SNVindel,exonic,MX1,NA,nonsynonymous SNV,MX1:NM_001282920:exon10:c.C1498T:p.R500W,.,.,D,.,.,.
chr21,42860415,42860415,C,T,R007_S,TMPRSS2,Silent,NM_001135099,exon5,c.G462A,p.G154G,SNP,SNVindel,exonic,TMPRSS2,NA,synonymous SNV,"TMPRSS2:NM_001135099:exon5:c.G462A:p.G154G,TMPRSS2:NM_005656:exon5:c.G351A:p.G117G",NA,NA,NA,NA,NA,NA
chr21,43242365,43242365,C,T,R007_S,PRDM15,Missense_Mutation,NM_001040424,exon15,c.G1901A,p.R634K,SNP,SNVindel,exonic,PRDM15,NA,nonsynonymous SNV,"PRDM15:NM_001040424:exon15:c.G1901A:p.R634K,PRDM15:NM_001282934:exon16:c.G1961A:p.R654K,PRDM15:NM_022115:exon22:c.G2888A:p.R963K",T,.,D,T,N,T
chr21,43267266,43267266,C,T,R007_S,PRDM15,Silent,NM_001040424,exon6,c.G684A,p.E228E,SNP,SNVindel,exonic,PRDM15,NA,synonymous SNV,"PRDM15:NM_001040424:exon6:c.G684A:p.E228E,PRDM15:NM_001282934:exon6:c.G684A:p.E228E,PRDM15:NM_022115:exon13:c.G1671A:p.E557E",NA,NA,NA,NA,NA,NA
chr21,43531106,43531106,C,T,R007_S,UMODL1,Missense_Mutation,NM_001004416,exon11,c.C1774T,p.P592S,SNP,SNVindel,exonic,UMODL1,NA,nonsynonymous SNV,"UMODL1:NM_001004416:exon11:c.C1774T:p.P592S,UMODL1:NM_001199527:exon11:c.C1558T:p.P520S,UMODL1:NM_001199528:exon11:c.C1558T:p.P520S,UMODL1:NM_173568:exon11:c.C1774T:p.P592S",T,N,N,T,N,T
chr21,43531539,43531539,C,T,R007_S,UMODL1,Missense_Mutation,NM_001199527,exon11,c.C1991T,p.S664F,SNP,SNVindel,exonic,UMODL1,NA,nonsynonymous SNV,"UMODL1:NM_001199527:exon11:c.C1991T:p.S664F,UMODL1:NM_173568:exon11:c.C2207T:p.S736F",T,.,N,T,N,T
chr21,43892931,43892931,G,A,R007_S,RSPH1,Silent,NM_001286506,exon8,c.C813T,p.D271D,SNP,SNVindel,exonic,RSPH1,NA,synonymous SNV,"RSPH1:NM_001286506:exon8:c.C813T:p.D271D,RSPH1:NM_080860:exon9:c.C927T:p.D309D",NA,NA,NA,NA,NA,NA
chr21,43987146,43987146,C,T,R007_S,SLC37A1,Missense_Mutation,NM_001320537,exon16,c.C1322T,p.T441I,SNP,SNVindel,exonic,SLC37A1,NA,nonsynonymous SNV,"SLC37A1:NM_001320537:exon16:c.C1322T:p.T441I,SLC37A1:NM_018964:exon17:c.C1322T:p.T441I",D,D,D,T,D,T
chr21,44427695,44427695,C,T,R007_S,PKNOX1,Missense_Mutation,NM_001320694,exon3,c.C146T,p.T49I,SNP,SNVindel,exonic,PKNOX1,NA,nonsynonymous SNV,"PKNOX1:NM_001320694:exon3:c.C146T:p.T49I,PKNOX1:NM_004571:exon3:c.C146T:p.T49I",T,D,D,T,N,T
chr21,44478300,44478300,C,T,R007_S,CBS,Silent,NM_001321072,exon12,c.G1107A,p.Q369Q,SNP,SNVindel,exonic,CBS;CBSL,NA,synonymous SNV,"CBS:NM_001321072:exon12:c.G1107A:p.Q369Q,CBS:NM_000071:exon15:c.G1422A:p.Q474Q,CBS:NM_001178008:exon15:c.G1422A:p.Q474Q,CBS:NM_001178009:exon15:c.G1422A:p.Q474Q,CBSL:NM_001321073:exon15:c.G1422A:p.Q474Q,CBSL:NM_001354008:exon15:c.G1422A:p.Q474Q,CBSL:NM_001354009:exon15:c.G1422A:p.Q474Q,CBSL:NM_001354010:exon15:c.G1422A:p.Q474Q,CBSL:NM_001354012:exon15:c.G1422A:p.Q474Q,CBSL:NM_001354014:exon15:c.G1422A:p.Q474Q,CBSL:NM_001354015:exon15:c.G1422A:p.Q474Q,CBS:NM_001320298:exon16:c.G1422A:p.Q474Q,CBSL:NM_001354006:exon16:c.G1422A:p.Q474Q,CBSL:NM_001354007:exon16:c.G1422A:p.Q474Q",NA,NA,NA,NA,NA,NA
chr21,44492129,44492129,G,A,R007_S,CBS,Missense_Mutation,NM_000071,exon3,c.C175T,p.P59S,SNP,SNVindel,exonic,CBS;CBSL,NA,nonsynonymous SNV,"CBS:NM_000071:exon3:c.C175T:p.P59S,CBS:NM_001178008:exon3:c.C175T:p.P59S,CBS:NM_001178009:exon3:c.C175T:p.P59S,CBSL:NM_001321073:exon3:c.C175T:p.P59S,CBSL:NM_001354008:exon3:c.C175T:p.P59S,CBSL:NM_001354009:exon3:c.C175T:p.P59S,CBSL:NM_001354010:exon3:c.C175T:p.P59S,CBSL:NM_001354012:exon3:c.C175T:p.P59S,CBSL:NM_001354014:exon3:c.C175T:p.P59S,CBSL:NM_001354015:exon3:c.C175T:p.P59S,CBS:NM_001320298:exon4:c.C175T:p.P59S,CBSL:NM_001354006:exon4:c.C175T:p.P59S,CBSL:NM_001354007:exon4:c.C175T:p.P59S",T,N,N,D,N,D
chr21,46066450,46066450,C,T,R007_S,KRTAP10-11,Silent,NM_198692,exon1,c.C75T,p.S25S,SNP,SNVindel,exonic,KRTAP10-11,NA,synonymous SNV,KRTAP10-11:NM_198692:exon1:c.C75T:p.S25S,NA,NA,NA,NA,NA,NA
chr21,46078007,46078007,C,T,R007_S,KRTAP12-3,Silent,NM_198697,exon1,c.C111T,p.P37P,SNP,SNVindel,exonic,KRTAP12-3,NA,synonymous SNV,KRTAP12-3:NM_198697:exon1:c.C111T:p.P37P,NA,NA,NA,NA,NA,NA
chr21,47535956,47535956,C,T,R007_S,COL6A2,Missense_Mutation,NM_001849,exon7,c.C889T,p.P297S,SNP,SNVindel,exonic,COL6A2,NA,nonsynonymous SNV,"COL6A2:NM_001849:exon7:c.C889T:p.P297S,COL6A2:NM_058174:exon7:c.C889T:p.P297S,COL6A2:NM_058175:exon7:c.C889T:p.P297S",T,D,D,D,D,D
chr21,47635112,47635112,C,T,R007_S,LSS,Silent,NM_001145437,exon8,c.G753A,p.K251K,SNP,SNVindel,exonic,LSS,NA,synonymous SNV,"LSS:NM_001145437:exon8:c.G753A:p.K251K,LSS:NM_001001438:exon9:c.G993A:p.K331K,LSS:NM_001145436:exon9:c.G960A:p.K320K,LSS:NM_002340:exon9:c.G993A:p.K331K",NA,NA,NA,NA,NA,NA
chr21,47704956,47704956,C,T,R007_S,MCM3AP,Missense_Mutation,NM_003906,exon1,c.G245A,p.G82E,SNP,SNVindel,exonic,MCM3AP,NA,nonsynonymous SNV,MCM3AP:NM_003906:exon1:c.G245A:p.G82E,T,N,N,T,N,T
chr21,47817199,47817199,G,A,R007_S,PCNT,Missense_Mutation,NM_001315529,exon22,c.G3883A,p.D1295N,SNP,SNVindel,exonic,PCNT,NA,nonsynonymous SNV,"PCNT:NM_001315529:exon22:c.G3883A:p.D1295N,PCNT:NM_006031:exon22:c.G4237A:p.D1413N",T,N,N,T,N,T
chr21,47850034,47850034,G,A,R007_S,PCNT,Missense_Mutation,NM_001315529,exon36,c.G7447A,p.A2483T,SNP,SNVindel,exonic,PCNT,NA,nonsynonymous SNV,"PCNT:NM_001315529:exon36:c.G7447A:p.A2483T,PCNT:NM_006031:exon36:c.G7801A:p.A2601T",T,.,N,T,N,T
chr21,47987476,47987476,C,T,R007_S,DIP2A,Silent,NM_001146116,exon38,c.C4645T,p.L1549L,SNP,SNVindel,exonic,DIP2A,NA,synonymous SNV,"DIP2A:NM_001146116:exon38:c.C4645T:p.L1549L,DIP2A:NM_001353942:exon38:c.C4660T:p.L1554L,DIP2A:NM_001353943:exon38:c.C4657T:p.L1553L,DIP2A:NM_015151:exon38:c.C4657T:p.L1553L",NA,NA,NA,NA,NA,NA
chr22,17447025,17447025,G,A,R007_S,GAB4,Missense_Mutation,NM_001366857,exon4,c.C794T,p.P265L,SNP,SNVindel,exonic,GAB4,NA,nonsynonymous SNV,"GAB4:NM_001366857:exon4:c.C794T:p.P265L,GAB4:NM_001037814:exon6:c.C1253T:p.P418L",D,D,D,T,D,T
chr22,17956654,17956654,G,A,R007_S,CECR2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CECR2,NA,unknown,UNKNOWN,.,U,D,.,.,T
chr22,18291693,18291693,C,T,R007_S,MICAL3,Missense_Mutation,NM_015241,exon29,c.G5567A,p.R1856Q,SNP,SNVindel,exonic,MICAL3,NA,nonsynonymous SNV,MICAL3:NM_015241:exon29:c.G5567A:p.R1856Q,D,D,D,T,N,T
chr22,18379625,18379625,G,A,R007_S,MICAL3,Silent,NM_001122731,exon7,c.C1071T,p.A357A,SNP,SNVindel,exonic,MICAL3,NA,synonymous SNV,"MICAL3:NM_001122731:exon7:c.C1071T:p.A357A,MICAL3:NM_001136004:exon7:c.C1071T:p.A357A,MICAL3:NM_015241:exon8:c.C1071T:p.A357A",NA,NA,NA,NA,NA,NA
chr22,18383702,18383702,G,A,R007_S,MICAL3,Silent,NM_001122731,exon5,c.C753T,p.N251N,SNP,SNVindel,exonic,MICAL3,NA,synonymous SNV,"MICAL3:NM_001122731:exon5:c.C753T:p.N251N,MICAL3:NM_001136004:exon5:c.C753T:p.N251N,MICAL3:NM_015241:exon6:c.C753T:p.N251N",NA,NA,NA,NA,NA,NA
chr22,18566235,18566235,G,A,R007_S,PEX26,Missense_Mutation,NM_001127649,exon3,c.G404A,p.G135E,SNP,SNVindel,exonic,PEX26,NA,nonsynonymous SNV,"PEX26:NM_001127649:exon3:c.G404A:p.G135E,PEX26:NM_001199319:exon4:c.G404A:p.G135E,PEX26:NM_017929:exon4:c.G404A:p.G135E",T,U,N,D,N,T
chr22,18894188,18894188,C,T,R007_S,DGCR6,Missense_Mutation,NM_001368242,exon2,c.C221T,p.T74I,SNP,SNVindel,exonic,DGCR6;LOC102724770,NA,nonsynonymous SNV,"LOC102724770:NM_001368242:exon2:c.C221T:p.T74I,DGCR6:NM_005675:exon2:c.C221T:p.T74I",T,D,D,T,D,T
chr22,19119076,19119076,G,A,R007_S,TSSK2,Missense_Mutation,NM_053006,exon1,c.G164A,p.R55K,SNP,SNVindel,exonic,TSSK2,NA,nonsynonymous SNV,TSSK2:NM_053006:exon1:c.G164A:p.R55K,T,D,D,T,N,T
chr22,19130280,19130280,C,T,R007_S,ESS2,Missense_Mutation,NM_022719,exon2,c.G263A,p.G88D,SNP,SNVindel,exonic,ESS2,NA,nonsynonymous SNV,ESS2:NM_022719:exon2:c.G263A:p.G88D,D,D,D,T,N,T
chr22,19423356,19423356,G,A,R007_S,MRPL40,Silent,NM_001318152,exon3,c.G360A,p.R120R,SNP,SNVindel,exonic,MRPL40,NA,synonymous SNV,"MRPL40:NM_001318152:exon3:c.G360A:p.R120R,MRPL40:NM_001318151:exon4:c.G360A:p.R120R,MRPL40:NM_003776:exon4:c.G492A:p.R164R",NA,NA,NA,NA,NA,NA
chr22,19442320,19442320,C,T,R007_S,UFD1,Silent,NM_001362910,exon11,c.G786A,p.K262K,SNP,SNVindel,exonic,UFD1,NA,synonymous SNV,"UFD1:NM_001362910:exon11:c.G786A:p.K262K,UFD1:NM_005659:exon11:c.G801A:p.K267K",NA,NA,NA,NA,NA,NA
chr22,19865674,19865674,C,T,R007_S,TXNRD2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TXNRD2,NA,unknown,UNKNOWN,D,D,D,D,D,D
chr22,20082318,20082318,G,A,R007_S,DGCR8,Silent,NM_001190326,exon8,c.G1689A,p.E563E,SNP,SNVindel,exonic,DGCR8,NA,synonymous SNV,"DGCR8:NM_001190326:exon8:c.G1689A:p.E563E,DGCR8:NM_022720:exon9:c.G1788A:p.E596E",NA,NA,NA,NA,NA,NA
chr22,20128471,20128471,G,A,R007_S,ZDHHC8,Missense_Mutation,NM_001185024,exon7,c.G830A,p.R277Q,SNP,SNVindel,exonic,ZDHHC8,NA,nonsynonymous SNV,"ZDHHC8:NM_001185024:exon7:c.G830A:p.R277Q,ZDHHC8:NM_013373:exon7:c.G830A:p.R277Q",D,U,D,T,N,T
chr22,21178698,21178698,G,A,R007_S,PI4KA,Silent,NM_001362862,exon4,c.C372T,p.A124A,SNP,SNVindel,exonic,PI4KA,NA,synonymous SNV,"PI4KA:NM_001362862:exon4:c.C372T:p.A124A,PI4KA:NM_001362863:exon4:c.C372T:p.A124A,PI4KA:NM_058004:exon4:c.C372T:p.A124A",NA,NA,NA,NA,NA,NA
chr22,21340148,21340148,C,T,R007_S,LZTR1,Silent,NM_006767,exon3,c.C282T,p.D94D,SNP,SNVindel,exonic,LZTR1,NA,synonymous SNV,LZTR1:NM_006767:exon3:c.C282T:p.D94D,NA,NA,NA,NA,NA,NA
chr22,21350275,21350275,C,T,R007_S,LZTR1,Missense_Mutation,NM_006767,exon18,c.C2093T,p.S698F,SNP,SNVindel,exonic,LZTR1,NA,nonsynonymous SNV,LZTR1:NM_006767:exon18:c.C2093T:p.S698F,D,D,D,T,D,D
chr22,21988703,21988703,C,T,R007_S,CCDC116,Silent,NM_001331066,exon3,c.C465T,p.S155S,SNP,SNVindel,exonic,CCDC116,NA,synonymous SNV,"CCDC116:NM_001331066:exon3:c.C465T:p.S155S,CCDC116:NM_152612:exon3:c.C465T:p.S155S",NA,NA,NA,NA,NA,NA
chr22,21989732,21989732,G,A,R007_S,CCDC116,Silent,NM_001331066,exon4,c.G1380A,p.V460V,SNP,SNVindel,exonic,CCDC116,NA,synonymous SNV,CCDC116:NM_001331066:exon4:c.G1380A:p.V460V,NA,NA,NA,NA,NA,NA
chr22,24124420,24124420,G,A,R007_S,MMP11,Silent,NM_005940,exon7,c.G1083A,p.Q361Q,SNP,SNVindel,exonic,MMP11,NA,synonymous SNV,MMP11:NM_005940:exon7:c.G1083A:p.Q361Q,NA,NA,NA,NA,NA,NA
chr22,24313757,24313757,C,T,R007_S,DDT,Missense_Mutation,NM_001084392,exon3,c.G340A,p.V114I,SNP,SNVindel,exonic,DDT,NA,nonsynonymous SNV,"DDT:NM_001084392:exon3:c.G340A:p.V114I,DDT:NM_001355:exon4:c.G340A:p.V114I",T,D,D,.,N,T
chr22,24459589,24459589,G,A,R007_S,CABIN1,Missense_Mutation,NM_001201429,exon13,c.G1714A,p.A572T,SNP,SNVindel,exonic,CABIN1,NA,nonsynonymous SNV,"CABIN1:NM_001201429:exon13:c.G1714A:p.A572T,CABIN1:NM_001199281:exon14:c.G1864A:p.A622T,CABIN1:NM_012295:exon14:c.G1864A:p.A622T",D,D,D,D,D,D
chr22,24759230,24759230,G,A,R007_S,SPECC1L,Silent,NM_001145468,exon11,c.G2745A,p.E915E,SNP,SNVindel,exonic,SPECC1L,NA,synonymous SNV,"SPECC1L:NM_001145468:exon11:c.G2745A:p.E915E,SPECC1L:NM_001254732:exon11:c.G2745A:p.E915E,SPECC1L:NM_015330:exon12:c.G2745A:p.E915E",NA,NA,NA,NA,NA,NA
chr22,25570332,25570332,G,A,R007_S,KIAA1671,Missense_Mutation,NM_001145206,exon6,c.G4775A,p.R1592K,SNP,SNVindel,exonic,KIAA1671,NA,nonsynonymous SNV,KIAA1671:NM_001145206:exon6:c.G4775A:p.R1592K,D,U,P,.,N,T
chr22,26081182,26081182,G,A,R007_S,GRK3,Missense_Mutation,NM_001362778,exon9,c.G454A,p.D152N,SNP,SNVindel,exonic,GRK3,NA,nonsynonymous SNV,"GRK3:NM_001362778:exon9:c.G454A:p.D152N,GRK3:NM_005160:exon10:c.G793A:p.D265N",D,D,D,T,D,T
chr22,26243397,26243397,G,A,R007_S,MYO18B,Missense_Mutation,NM_001318245,exon20,c.G3556A,p.D1186N,SNP,SNVindel,exonic,MYO18B,NA,nonsynonymous SNV,"MYO18B:NM_001318245:exon20:c.G3556A:p.D1186N,MYO18B:NM_032608:exon20:c.G3553A:p.D1185N",D,N,D,D,D,D
chr22,26243429,26243429,G,A,R007_S,MYO18B,Silent,NM_001318245,exon20,c.G3588A,p.R1196R,SNP,SNVindel,exonic,MYO18B,NA,synonymous SNV,"MYO18B:NM_001318245:exon20:c.G3588A:p.R1196R,MYO18B:NM_032608:exon20:c.G3585A:p.R1195R",NA,NA,NA,NA,NA,NA
chr22,26422619,26422619,C,T,R007_S,MYO18B,Missense_Mutation,NM_001318245,exon43,c.C6682T,p.P2228S,SNP,SNVindel,exonic,MYO18B,NA,nonsynonymous SNV,"MYO18B:NM_001318245:exon43:c.C6682T:p.P2228S,MYO18B:NM_032608:exon43:c.C6679T:p.P2227S",T,N,N,D,N,T
chr22,26771634,26771634,G,A,R007_S,SEZ6L,Missense_Mutation,NM_001184776,exon13,c.G2696A,p.G899E,SNP,SNVindel,exonic,SEZ6L,NA,nonsynonymous SNV,"SEZ6L:NM_001184776:exon13:c.G2696A:p.G899E,SEZ6L:NM_001184777:exon13:c.G2693A:p.G898E,SEZ6L:NM_001184774:exon14:c.G2888A:p.G963E,SEZ6L:NM_001184775:exon14:c.G2882A:p.G961E,SEZ6L:NM_001184773:exon15:c.G2918A:p.G973E,SEZ6L:NM_021115:exon15:c.G2921A:p.G974E",D,D,D,T,D,T
chr22,26894865,26894865,C,T,R007_S,TFIP11,Missense_Mutation,NM_001346862,exon8,c.G1313A,p.G438E,SNP,SNVindel,exonic,TFIP11,NA,nonsynonymous SNV,"TFIP11:NM_001346862:exon8:c.G1313A:p.G438E,TFIP11:NM_001346859:exon10:c.G1406A:p.G469E,TFIP11:NM_001346861:exon10:c.G1406A:p.G469E,TFIP11:NM_012143:exon10:c.G1406A:p.G469E,TFIP11:NM_001008697:exon11:c.G1406A:p.G469E,TFIP11:NM_001346857:exon11:c.G1406A:p.G469E,TFIP11:NM_001346858:exon11:c.G1406A:p.G469E",T,N,N,T,N,T
chr22,26906065,26906065,G,A,R007_S,TFIP11,Silent,NM_001346859,exon4,c.C174T,p.D58D,SNP,SNVindel,exonic,TFIP11,NA,synonymous SNV,"TFIP11:NM_001346859:exon4:c.C174T:p.D58D,TFIP11:NM_001346861:exon4:c.C174T:p.D58D,TFIP11:NM_012143:exon4:c.C174T:p.D58D,TFIP11:NM_001008697:exon5:c.C174T:p.D58D,TFIP11:NM_001346857:exon5:c.C174T:p.D58D,TFIP11:NM_001346858:exon5:c.C174T:p.D58D",NA,NA,NA,NA,NA,NA
chr22,29446395,29446395,C,T,R007_S,ZNRF3,Silent,NM_001206998,exon8,c.C2226T,p.G742G,SNP,SNVindel,exonic,ZNRF3,NA,synonymous SNV,"ZNRF3:NM_001206998:exon8:c.C2226T:p.G742G,ZNRF3:NM_032173:exon8:c.C1926T:p.G642G",NA,NA,NA,NA,NA,NA
chr22,29454772,29454772,C,T,R007_S,C22orf31,Silent,NM_015370,exon3,c.G831A,p.E277E,SNP,SNVindel,exonic,C22orf31,NA,synonymous SNV,C22orf31:NM_015370:exon3:c.G831A:p.E277E,NA,NA,NA,NA,NA,NA
chr22,29629620,29629620,G,A,R007_S,EMID1,Missense_Mutation,NM_001267895,exon10,c.G925A,p.G309S,SNP,SNVindel,exonic,EMID1,NA,nonsynonymous SNV,"EMID1:NM_001267895:exon10:c.G925A:p.G309S,EMID1:NM_133455:exon10:c.G931A:p.G311S",D,N,D,D,D,D
chr22,29708333,29708333,G,A,R007_S,GAS2L1,Nonsense_Mutation,NM_001278730,exon6,c.G1212A,p.W404X,SNP,SNVindel,exonic,GAS2L1,NA,stopgain,GAS2L1:NM_001278730:exon6:c.G1212A:p.W404X,.,N,D,.,.,.
chr22,29737677,29737677,C,T,R007_S,AP1B1,Missense_Mutation,NM_001127,exon13,c.G1609A,p.A537T,SNP,SNVindel,exonic,AP1B1,NA,nonsynonymous SNV,"AP1B1:NM_001127:exon13:c.G1609A:p.A537T,AP1B1:NM_001166019:exon13:c.G1609A:p.A537T,AP1B1:NM_145730:exon13:c.G1609A:p.A537T",D,D,D,T,D,T
chr22,29838103,29838103,G,A,R007_S,RFPL1,Missense_Mutation,NM_021026,exon2,c.G946A,p.A316T,SNP,SNVindel,exonic,RFPL1,NA,nonsynonymous SNV,RFPL1:NM_021026:exon2:c.G946A:p.A316T,D,.,N,T,N,T
chr22,30639709,30639709,C,T,R007_S,LIF,Silent,NM_002309,exon3,c.G540A,p.K180K,SNP,SNVindel,exonic,LIF,NA,synonymous SNV,LIF:NM_002309:exon3:c.G540A:p.K180K,NA,NA,NA,NA,NA,NA
chr22,30660080,30660080,G,A,R007_S,OSM,Missense_Mutation,NM_001319108,exon3,c.C488T,p.A163V,SNP,SNVindel,exonic,OSM,NA,nonsynonymous SNV,"OSM:NM_001319108:exon3:c.C488T:p.A163V,OSM:NM_020530:exon3:c.C551T:p.A184V",T,N,N,T,N,T
chr22,30661082,30661082,C,T,R007_S,OSM,Missense_Mutation,NM_001319108,exon2,c.G23A,p.G8D,SNP,SNVindel,exonic,OSM,NA,nonsynonymous SNV,"OSM:NM_001319108:exon2:c.G23A:p.G8D,OSM:NM_020530:exon2:c.G86A:p.G29D",T,N,N,T,D,T
chr22,30772291,30772291,C,T,R007_S,CCDC157,Missense_Mutation,NM_001017437,exon11,c.C1901T,p.T634I,SNP,SNVindel,exonic,CCDC157,NA,nonsynonymous SNV,"CCDC157:NM_001017437:exon11:c.C1901T:p.T634I,CCDC157:NM_001318334:exon11:c.C1901T:p.T634I",T,N,N,T,N,T
chr22,30781929,30781929,G,A,R007_S,RNF215,Missense_Mutation,NM_001017981,exon4,c.C551T,p.S184F,SNP,SNVindel,exonic,RNF215,NA,nonsynonymous SNV,RNF215:NM_001017981:exon4:c.C551T:p.S184F,D,D,D,T,D,T
chr22,30953348,30953348,G,A,R007_S,GAL3ST1,Missense_Mutation,NM_001318103,exon2,c.C32T,p.S11F,SNP,SNVindel,exonic,GAL3ST1,NA,nonsynonymous SNV,"GAL3ST1:NM_001318103:exon2:c.C32T:p.S11F,GAL3ST1:NM_001318105:exon2:c.C32T:p.S11F,GAL3ST1:NM_001318109:exon2:c.C107T:p.S36F,GAL3ST1:NM_001318111:exon2:c.C32T:p.S11F,GAL3ST1:NM_001318112:exon2:c.C32T:p.S11F,GAL3ST1:NM_001318114:exon2:c.C32T:p.S11F,GAL3ST1:NM_001318104:exon3:c.C32T:p.S11F,GAL3ST1:NM_001318106:exon3:c.C32T:p.S11F,GAL3ST1:NM_001318107:exon3:c.C32T:p.S11F,GAL3ST1:NM_001318108:exon3:c.C32T:p.S11F,GAL3ST1:NM_001318110:exon3:c.C32T:p.S11F,GAL3ST1:NM_001318113:exon3:c.C32T:p.S11F,GAL3ST1:NM_001318115:exon3:c.C32T:p.S11F,GAL3ST1:NM_004861:exon3:c.C32T:p.S11F,GAL3ST1:NM_001318116:exon4:c.C32T:p.S11F",D,D,D,T,N,T
chr22,31008947,31008947,C,T,R007_S,TCN2,Silent,NM_000355,exon3,c.C345T,p.N115N,SNP,SNVindel,exonic,TCN2,NA,synonymous SNV,"TCN2:NM_000355:exon3:c.C345T:p.N115N,TCN2:NM_001184726:exon3:c.C345T:p.N115N",NA,NA,NA,NA,NA,NA
chr22,31289631,31289631,G,A,R007_S,OSBP2,Missense_Mutation,NM_001282742,exon9,c.G733A,p.D245N,SNP,SNVindel,exonic,OSBP2,NA,nonsynonymous SNV,"OSBP2:NM_001282742:exon9:c.G733A:p.D245N,OSBP2:NM_001282740:exon10:c.G1000A:p.D334N,OSBP2:NM_001282741:exon10:c.G1327A:p.D443N,OSBP2:NM_001282739:exon11:c.G2098A:p.D700N,OSBP2:NM_030758:exon11:c.G2101A:p.D701N,OSBP2:NM_001282738:exon12:c.G1603A:p.D535N",D,D,D,T,D,T
chr22,31491399,31491399,G,A,R007_S,SMTN,Silent,NM_001207018,exon11,c.G1911A,p.E637E,SNP,SNVindel,exonic,SMTN,NA,synonymous SNV,"SMTN:NM_001207018:exon11:c.G1911A:p.E637E,SMTN:NM_006932:exon12:c.G1743A:p.E581E,SMTN:NM_134269:exon12:c.G1743A:p.E581E,SMTN:NM_134270:exon12:c.G1743A:p.E581E,SMTN:NM_001207017:exon13:c.G1998A:p.E666E",NA,NA,NA,NA,NA,NA
chr22,31521862,31521862,G,A,R007_S,INPP5J,Silent,NM_001284285,exon2,c.G1137A,p.G379G,SNP,SNVindel,exonic,INPP5J,NA,synonymous SNV,"INPP5J:NM_001284285:exon2:c.G1137A:p.G379G,INPP5J:NM_001284286:exon3:c.G936A:p.G312G,INPP5J:NM_001284288:exon3:c.G36A:p.G12G,INPP5J:NM_001284289:exon4:c.G36A:p.G12G",NA,NA,NA,NA,NA,NA
chr22,31524043,31524043,G,A,R007_S,INPP5J,Missense_Mutation,NM_001284287,exon6,c.G589A,p.D197N,SNP,SNVindel,exonic,INPP5J,NA,nonsynonymous SNV,"INPP5J:NM_001284287:exon6:c.G589A:p.D197N,INPP5J:NM_001002837:exon7:c.G790A:p.D264N,INPP5J:NM_001284285:exon7:c.G1894A:p.D632N,INPP5J:NM_001284286:exon8:c.G1693A:p.D565N,INPP5J:NM_001284288:exon8:c.G793A:p.D265N,INPP5J:NM_001284289:exon9:c.G793A:p.D265N",D,D,D,D,D,D
chr22,31532731,31532731,C,T,R007_S,PLA2G3,Nonsense_Mutation,NM_015715,exon6,c.G1254A,p.W418X,SNP,SNVindel,exonic,PLA2G3,NA,stopgain,PLA2G3:NM_015715:exon6:c.G1254A:p.W418X,.,N,A,.,.,.
chr22,31592972,31592972,G,A,R007_S,RNF185,Missense_Mutation,NM_152267,exon5,c.G359A,p.R120K,SNP,SNVindel,exonic,RNF185,NA,nonsynonymous SNV,RNF185:NM_152267:exon5:c.G359A:p.R120K,T,D,D,D,N,D
chr22,31688316,31688316,C,T,R007_S,PIK3IP1,Nonsense_Mutation,NM_001135911,exon1,c.G15A,p.W5X,SNP,SNVindel,exonic,PIK3IP1,NA,stopgain,"PIK3IP1:NM_001135911:exon1:c.G15A:p.W5X,PIK3IP1:NM_052880:exon1:c.G15A:p.W5X",.,N,A,.,.,.
chr22,31740815,31740815,G,A,R007_S,PATZ1,Silent,NM_014323,exon1,c.C774T,p.A258A,SNP,SNVindel,exonic,PATZ1,NA,synonymous SNV,"PATZ1:NM_014323:exon1:c.C774T:p.A258A,PATZ1:NM_032050:exon1:c.C774T:p.A258A,PATZ1:NM_032051:exon1:c.C774T:p.A258A,PATZ1:NM_032052:exon1:c.C774T:p.A258A",NA,NA,NA,NA,NA,NA
chr22,31974369,31974369,C,T,R007_S,SFI1,Silent,NM_001258326,exon9,c.C840T,p.Y280Y,SNP,SNVindel,exonic,SFI1,NA,synonymous SNV,"SFI1:NM_001258326:exon9:c.C840T:p.Y280Y,SFI1:NM_001258327:exon9:c.C840T:p.Y280Y,SFI1:NM_001258325:exon10:c.C1014T:p.Y338Y,SFI1:NM_001007467:exon11:c.C1086T:p.Y362Y,SFI1:NM_014775:exon11:c.C1086T:p.Y362Y",NA,NA,NA,NA,NA,NA
chr22,31981108,31981108,G,A,R007_S,SFI1,Silent,NM_001258325,exon12,c.G1236A,p.R412R,SNP,SNVindel,exonic,SFI1,NA,synonymous SNV,"SFI1:NM_001258325:exon12:c.G1236A:p.R412R,SFI1:NM_001258326:exon12:c.G1155A:p.R385R,SFI1:NM_001258327:exon12:c.G1155A:p.R385R,SFI1:NM_014775:exon13:c.G1308A:p.R436R,SFI1:NM_001007467:exon14:c.G1401A:p.R467R",NA,NA,NA,NA,NA,NA
chr22,32099555,32099555,C,T,R007_S,PRR14L,Missense_Mutation,NM_173566,exon6,c.G5981A,p.S1994N,SNP,SNVindel,exonic,PRR14L,NA,nonsynonymous SNV,PRR14L:NM_173566:exon6:c.G5981A:p.S1994N,T,N,N,T,N,T
chr22,32112260,32112260,C,T,R007_S,PRR14L,Missense_Mutation,NM_173566,exon4,c.G1565A,p.G522E,SNP,SNVindel,exonic,PRR14L,NA,nonsynonymous SNV,PRR14L:NM_173566:exon4:c.G1565A:p.G522E,T,N,N,T,N,T
chr22,32352765,32352765,G,A,R007_S,YWHAH,Missense_Mutation,NM_003405,exon2,c.G727A,p.G243R,SNP,SNVindel,exonic,YWHAH,NA,nonsynonymous SNV,YWHAH:NM_003405:exon2:c.G727A:p.G243R,D,D,D,T,D,T
chr22,36681276,36681276,C,T,R007_S,MYH9,Missense_Mutation,NM_002473,exon38,c.G5374A,p.V1792I,SNP,SNVindel,exonic,MYH9,NA,nonsynonymous SNV,MYH9:NM_002473:exon38:c.G5374A:p.V1792I,D,N,N,D,N,T
chr22,36716283,36716283,G,A,R007_S,MYH9,Missense_Mutation,NM_002473,exon9,c.C994T,p.P332S,SNP,SNVindel,exonic,MYH9,NA,nonsynonymous SNV,MYH9:NM_002473:exon9:c.C994T:p.P332S,T,D,D,D,N,T
chr22,36745204,36745204,C,T,R007_S,MYH9,Nonsense_Mutation,NM_002473,exon2,c.G78A,p.W26X,SNP,SNVindel,exonic,MYH9,NA,stopgain,MYH9:NM_002473:exon2:c.G78A:p.W26X,.,D,A,.,.,.
chr22,36960503,36960503,G,A,R007_S,CACNG2,Silent,NM_006078,exon4,c.C867T,p.N289N,SNP,SNVindel,exonic,CACNG2,NA,synonymous SNV,CACNG2:NM_006078:exon4:c.C867T:p.N289N,NA,NA,NA,NA,NA,NA
chr22,37163391,37163391,C,T,R007_S,IFT27,Missense_Mutation,NM_001177701,exon3,c.G133A,p.V45M,SNP,SNVindel,exonic,IFT27,NA,nonsynonymous SNV,"IFT27:NM_001177701:exon3:c.G133A:p.V45M,IFT27:NM_006860:exon3:c.G130A:p.V44M,IFT27:NM_001363003:exon4:c.G133A:p.V45M",T,N,N,T,N,T
chr22,37322073,37322073,C,T,R007_S,CSF2RB,Missense_Mutation,NM_000395,exon4,c.C245T,p.P82L,SNP,SNVindel,exonic,CSF2RB,NA,nonsynonymous SNV,CSF2RB:NM_000395:exon4:c.C245T:p.P82L,T,N,N,T,D,T
chr22,37398254,37398254,G,A,R007_S,TEX33,Missense_Mutation,NM_001163857,exon3,c.C113T,p.T38I,SNP,SNVindel,exonic,TEX33,NA,nonsynonymous SNV,TEX33:NM_001163857:exon3:c.C113T:p.T38I,D,N,N,.,D,T
chr22,37480373,37480373,C,T,R007_S,TMPRSS6,Silent,NM_001289000,exon10,c.G1158A,p.L386L,SNP,SNVindel,exonic,TMPRSS6,NA,synonymous SNV,"TMPRSS6:NM_001289000:exon10:c.G1158A:p.L386L,TMPRSS6:NM_001289001:exon10:c.G1158A:p.L386L,TMPRSS6:NM_153609:exon10:c.G1185A:p.L395L",NA,NA,NA,NA,NA,NA
chr22,37494502,37494502,C,T,R007_S,TMPRSS6,Missense_Mutation,NM_001289000,exon3,c.G290A,p.R97Q,SNP,SNVindel,exonic,TMPRSS6,NA,nonsynonymous SNV,"TMPRSS6:NM_001289000:exon3:c.G290A:p.R97Q,TMPRSS6:NM_001289001:exon3:c.G290A:p.R97Q,TMPRSS6:NM_153609:exon3:c.G317A:p.R106Q",T,N,N,T,N,T
chr22,37888748,37888748,C,T,R007_S,CARD10,Silent,NM_014550,exon17,c.G2538A,p.R846R,SNP,SNVindel,exonic,CARD10,NA,synonymous SNV,CARD10:NM_014550:exon17:c.G2538A:p.R846R,NA,NA,NA,NA,NA,NA
chr22,37900199,37900199,G,A,R007_S,CARD10,Missense_Mutation,NM_014550,exon9,c.C1628T,p.P543L,SNP,SNVindel,exonic,CARD10,NA,nonsynonymous SNV,CARD10:NM_014550:exon9:c.C1628T:p.P543L,T,N,D,T,N,T
chr22,37915151,37915151,C,T,R007_S,CARD10,Silent,NM_014550,exon1,c.G57A,p.G19G,SNP,SNVindel,exonic,CARD10,NA,synonymous SNV,CARD10:NM_014550:exon1:c.G57A:p.G19G,NA,NA,NA,NA,NA,NA
chr22,38051641,38051641,G,A,R007_S,SH3BP1,Missense_Mutation,NM_018957,exon18,c.G2056A,p.A686T,SNP,SNVindel,exonic,SH3BP1,NA,nonsynonymous SNV,SH3BP1:NM_018957:exon18:c.G2056A:p.A686T,T,U,N,T,N,T
chr22,38061588,38061588,G,A,R007_S,PDXP,Missense_Mutation,NM_020315,exon2,c.G601A,p.E201K,SNP,SNVindel,exonic,PDXP,NA,nonsynonymous SNV,PDXP:NM_020315:exon2:c.G601A:p.E201K,T,.,D,T,N,T
chr22,38164082,38164082,C,T,R007_S,TRIOBP,Silent,NM_007032,exon9,c.C1335T,p.A445A,SNP,SNVindel,exonic,TRIOBP,NA,synonymous SNV,"TRIOBP:NM_007032:exon9:c.C1335T:p.A445A,TRIOBP:NM_001039141:exon19:c.C6474T:p.A2158A",NA,NA,NA,NA,NA,NA
chr22,38610738,38610738,C,T,R007_S,MAFF,Silent,NM_001161574,exon2,c.C261T,p.G87G,SNP,SNVindel,exonic,MAFF,NA,synonymous SNV,"MAFF:NM_001161574:exon2:c.C261T:p.G87G,MAFF:NM_001161572:exon3:c.C348T:p.G116G,MAFF:NM_001161573:exon3:c.C348T:p.G116G,MAFF:NM_012323:exon3:c.C348T:p.G116G",NA,NA,NA,NA,NA,NA
chr22,38822866,38822866,G,A,R007_S,KCNJ4,Silent,NM_004981,exon2,c.C1272T,p.D424D,SNP,SNVindel,exonic,KCNJ4,NA,synonymous SNV,"KCNJ4:NM_004981:exon2:c.C1272T:p.D424D,KCNJ4:NM_152868:exon2:c.C1272T:p.D424D",NA,NA,NA,NA,NA,NA
chr22,38824000,38824000,G,A,R007_S,KCNJ4,Silent,NM_004981,exon2,c.C138T,p.I46I,SNP,SNVindel,exonic,KCNJ4,NA,synonymous SNV,"KCNJ4:NM_004981:exon2:c.C138T:p.I46I,KCNJ4:NM_152868:exon2:c.C138T:p.I46I",NA,NA,NA,NA,NA,NA
chr22,38935347,38935347,G,A,R007_S,DMC1,Missense_Mutation,NM_007068,exon9,c.C565T,p.L189F,SNP,SNVindel,exonic,DMC1,NA,nonsynonymous SNV,DMC1:NM_007068:exon9:c.C565T:p.L189F,T,D,D,T,D,T
chr22,39222596,39222596,G,A,R007_S,NPTXR,Missense_Mutation,NM_014293,exon3,c.C1007T,p.T336I,SNP,SNVindel,exonic,NPTXR,NA,nonsynonymous SNV,NPTXR:NM_014293:exon3:c.C1007T:p.T336I,D,D,.,T,D,T
chr22,39262292,39262292,G,A,R007_S,CBX6,Silent,NM_001303494,exon5,c.C1107T,p.N369N,SNP,SNVindel,exonic,CBX6,NA,synonymous SNV,"CBX6:NM_001303494:exon5:c.C1107T:p.N369N,CBX6:NM_014292:exon5:c.C1161T:p.N387N",NA,NA,NA,NA,NA,NA
chr22,39477498,39477498,G,A,R007_S,APOBEC3G,Silent,NM_001349437,exon3,c.G288A,p.K96K,SNP,SNVindel,exonic,APOBEC3G,NA,synonymous SNV,"APOBEC3G:NM_001349437:exon3:c.G288A:p.K96K,APOBEC3G:NM_001349436:exon4:c.G456A:p.K152K,APOBEC3G:NM_001349438:exon4:c.G489A:p.K163K,APOBEC3G:NM_021822:exon4:c.G489A:p.K163K",NA,NA,NA,NA,NA,NA
chr22,39770438,39770438,G,A,R007_S,SYNGR1,Missense_Mutation,NM_004711,exon2,c.G217A,p.A73T,SNP,SNVindel,exonic,SYNGR1,NA,nonsynonymous SNV,"SYNGR1:NM_004711:exon2:c.G217A:p.A73T,SYNGR1:NM_145731:exon2:c.G217A:p.A73T,SYNGR1:NM_145738:exon2:c.G220A:p.A74T",T,N,N,T,N,T
chr22,39884891,39884891,G,A,R007_S,MGAT3,Nonsense_Mutation,NM_001098270,exon1,c.G1539A,p.W513X,SNP,SNVindel,exonic,MGAT3,NA,stopgain,"MGAT3:NM_001098270:exon1:c.G1539A:p.W513X,MGAT3:NM_002409:exon2:c.G1539A:p.W513X",.,N,D,.,.,.
chr22,40058165,40058165,C,T,R007_S,CACNA1I,Missense_Mutation,NM_001003406,exon16,c.C2992T,p.H998Y,SNP,SNVindel,exonic,CACNA1I,NA,nonsynonymous SNV,"CACNA1I:NM_001003406:exon16:c.C2992T:p.H998Y,CACNA1I:NM_021096:exon17:c.C3097T:p.H1033Y",T,N,N,D,N,D
chr22,40391499,40391499,G,A,R007_S,FAM83F,Silent,NM_138435,exon1,c.G453A,p.K151K,SNP,SNVindel,exonic,FAM83F,NA,synonymous SNV,FAM83F:NM_138435:exon1:c.G453A:p.K151K,NA,NA,NA,NA,NA,NA
chr22,40642095,40642095,G,A,R007_S,TNRC6B,Missense_Mutation,NM_001162501,exon2,c.G82A,p.A28T,SNP,SNVindel,exonic,TNRC6B,NA,nonsynonymous SNV,"TNRC6B:NM_001162501:exon2:c.G82A:p.A28T,TNRC6B:NM_015088:exon2:c.G82A:p.A28T,TNRC6B:NM_001024843:exon5:c.G190A:p.A64T",T,N,N,T,N,T
chr22,40814478,40814478,G,A,R007_S,MRTFA,Missense_Mutation,NM_001282660,exon9,c.C1964T,p.P655L,SNP,SNVindel,exonic,MRTFA,NA,nonsynonymous SNV,"MRTFA:NM_001282660:exon9:c.C1964T:p.P655L,MRTFA:NM_001318139:exon10:c.C2069T:p.P690L,MRTFA:NM_001282661:exon11:c.C2114T:p.P705L,MRTFA:NM_001282662:exon12:c.C2264T:p.P755L,MRTFA:NM_020831:exon12:c.C2264T:p.P755L",T,N,D,T,D,T
chr22,41077237,41077237,G,A,R007_S,MCHR1,Missense_Mutation,NM_005297,exon2,c.G574A,p.D192N,SNP,SNVindel,exonic,MCHR1,NA,nonsynonymous SNV,MCHR1:NM_005297:exon2:c.G574A:p.D192N,D,D,D,T,D,T
chr22,41545120,41545120,G,A,R007_S,EP300,Missense_Mutation,NM_001362843,exon12,c.G2242A,p.G748R,SNP,SNVindel,exonic,EP300,NA,nonsynonymous SNV,"EP300:NM_001362843:exon12:c.G2242A:p.G748R,EP300:NM_001429:exon13:c.G2320A:p.G774R",D,D,D,D,D,D
chr22,41623274,41623274,C,T,R007_S,L3MBTL2,Missense_Mutation,NM_031488,exon14,c.C1769T,p.P590L,SNP,SNVindel,exonic,L3MBTL2,NA,nonsynonymous SNV,L3MBTL2:NM_031488:exon14:c.C1769T:p.P590L,D,D,D,T,D,D
chr22,41633638,41633638,G,A,R007_S,CHADL,Missense_Mutation,NM_138481,exon3,c.C1438T,p.L480F,SNP,SNVindel,exonic,CHADL,NA,nonsynonymous SNV,CHADL:NM_138481:exon3:c.C1438T:p.L480F,D,D,D,T,D,T
chr22,42032734,42032734,C,T,R007_S,XRCC6,Silent,NM_001288978,exon4,c.C399T,p.A133A,SNP,SNVindel,exonic,XRCC6,NA,synonymous SNV,"XRCC6:NM_001288978:exon4:c.C399T:p.A133A,XRCC6:NM_001288976:exon5:c.C549T:p.A183A,XRCC6:NM_001288977:exon5:c.C426T:p.A142A,XRCC6:NM_001469:exon5:c.C549T:p.A183A",NA,NA,NA,NA,NA,NA
chr22,42377811,42377811,C,T,R007_S,SEPTIN3,Missense_Mutation,NM_019106,exon2,c.C173T,p.T58I,SNP,SNVindel,exonic,SEPTIN3,NA,nonsynonymous SNV,"SEPTIN3:NM_019106:exon2:c.C173T:p.T58I,SEPTIN3:NM_145733:exon2:c.C173T:p.T58I,SEPTIN3:NM_001363845:exon3:c.C1667T:p.T556I",D,D,D,T,D,T
chr22,42998886,42998886,C,T,R007_S,POLDIP3,Missense_Mutation,NM_001278657,exon2,c.G340A,p.V114I,SNP,SNVindel,exonic,POLDIP3,NA,nonsynonymous SNV,"POLDIP3:NM_001278657:exon2:c.G340A:p.V114I,POLDIP3:NM_001363052:exon2:c.G340A:p.V114I,POLDIP3:NM_032311:exon2:c.G340A:p.V114I,POLDIP3:NM_178136:exon2:c.G340A:p.V114I",D,D,D,.,N,T
chr22,43284720,43284720,G,A,R007_S,PACSIN2,Missense_Mutation,NM_001349974,exon4,c.C415T,p.P139S,SNP,SNVindel,exonic,PACSIN2,NA,nonsynonymous SNV,"PACSIN2:NM_001349974:exon4:c.C415T:p.P139S,PACSIN2:NM_001184970:exon5:c.C538T:p.P180S,PACSIN2:NM_001184971:exon5:c.C538T:p.P180S,PACSIN2:NM_001349968:exon5:c.C538T:p.P180S,PACSIN2:NM_001349969:exon5:c.C538T:p.P180S,PACSIN2:NM_001349970:exon5:c.C538T:p.P180S,PACSIN2:NM_001349971:exon5:c.C538T:p.P180S,PACSIN2:NM_001349972:exon5:c.C538T:p.P180S,PACSIN2:NM_001349973:exon5:c.C538T:p.P180S,PACSIN2:NM_007229:exon5:c.C538T:p.P180S",T,D,D,T,N,T
chr22,45681882,45681882,C,T,R007_S,UPK3A,Missense_Mutation,NM_001167574,exon2,c.C113T,p.T38I,SNP,SNVindel,exonic,UPK3A,NA,nonsynonymous SNV,"UPK3A:NM_001167574:exon2:c.C113T:p.T38I,UPK3A:NM_006953:exon2:c.C113T:p.T38I",D,D,D,T,D,D
chr22,46319215,46319215,C,T,R007_S,WNT7B,Missense_Mutation,NM_058238,exon4,c.G571A,p.V191I,SNP,SNVindel,exonic,WNT7B,NA,nonsynonymous SNV,WNT7B:NM_058238:exon4:c.G571A:p.V191I,T,U,D,T,N,T
chr22,46658434,46658434,G,A,R007_S,PKDREJ,Silent,NM_006071,exon1,c.C786T,p.F262F,SNP,SNVindel,exonic,PKDREJ,NA,synonymous SNV,PKDREJ:NM_006071:exon1:c.C786T:p.F262F,NA,NA,NA,NA,NA,NA
chr22,46685336,46685336,G,A,R007_S,TTC38,Missense_Mutation,NM_017931,exon12,c.G1120A,p.D374N,SNP,SNVindel,exonic,TTC38,NA,nonsynonymous SNV,TTC38:NM_017931:exon12:c.G1120A:p.D374N,T,N,N,T,N,T
chr22,46725453,46725453,G,A,R007_S,GTSE1,Missense_Mutation,NM_016426,exon11,c.G2125A,p.V709M,SNP,SNVindel,exonic,GTSE1,NA,nonsynonymous SNV,GTSE1:NM_016426:exon11:c.G2125A:p.V709M,T,N,N,T,N,T
chr22,46785302,46785302,G,A,R007_S,CELSR1,Missense_Mutation,NM_014246,exon18,c.C6440T,p.T2147M,SNP,SNVindel,exonic,CELSR1,NA,nonsynonymous SNV,CELSR1:NM_014246:exon18:c.C6440T:p.T2147M,T,N,N,T,N,T
chr22,46859720,46859720,G,A,R007_S,CELSR1,Missense_Mutation,NM_014246,exon2,c.C4067T,p.T1356I,SNP,SNVindel,exonic,CELSR1,NA,nonsynonymous SNV,CELSR1:NM_014246:exon2:c.C4067T:p.T1356I,D,U,D,D,D,D
chr22,46930339,46930339,C,T,R007_S,CELSR1,Missense_Mutation,NM_014246,exon1,c.G2729A,p.S910N,SNP,SNVindel,exonic,CELSR1,NA,nonsynonymous SNV,CELSR1:NM_014246:exon1:c.G2729A:p.S910N,D,U,D,T,N,T
chr22,46931739,46931739,G,A,R007_S,CELSR1,Silent,NM_014246,exon1,c.C1329T,p.A443A,SNP,SNVindel,exonic,CELSR1,NA,synonymous SNV,CELSR1:NM_014246:exon1:c.C1329T:p.A443A,NA,NA,NA,NA,NA,NA
chr22,50217626,50217626,C,T,R007_S,BRD1,Missense_Mutation,NM_001349940,exon1,c.G340A,p.A114T,SNP,SNVindel,exonic,BRD1,NA,nonsynonymous SNV,"BRD1:NM_001349940:exon1:c.G340A:p.A114T,BRD1:NM_001349941:exon1:c.G340A:p.A114T,BRD1:NM_001304808:exon2:c.G340A:p.A114T,BRD1:NM_001304809:exon2:c.G340A:p.A114T",T,N,N,T,N,T
chr22,50528566,50528566,G,A,R007_S,MOV10L1,Missense_Mutation,NM_001164104,exon1,c.G49A,p.D17N,SNP,SNVindel,exonic,MOV10L1,NA,nonsynonymous SNV,"MOV10L1:NM_001164104:exon1:c.G49A:p.D17N,MOV10L1:NM_018995:exon1:c.G49A:p.D17N",D,D,D,D,N,D
chr22,50537938,50537938,C,T,R007_S,MOV10L1,Missense_Mutation,NM_001164104,exon3,c.C349T,p.P117S,SNP,SNVindel,exonic,MOV10L1,NA,nonsynonymous SNV,"MOV10L1:NM_001164104:exon3:c.C349T:p.P117S,MOV10L1:NM_001164105:exon3:c.C289T:p.P97S,MOV10L1:NM_018995:exon3:c.C349T:p.P117S",T,N,N,D,N,T
chr22,50728110,50728110,G,A,R007_S,PLXNB2,Missense_Mutation,NM_012401,exon3,c.C904T,p.R302W,SNP,SNVindel,exonic,PLXNB2,NA,nonsynonymous SNV,PLXNB2:NM_012401:exon3:c.C904T:p.R302W,D,N,N,T,N,T
chr22,50752135,50752135,G,A,R007_S,DENND6B,Missense_Mutation,NM_001001794,exon15,c.C1222T,p.P408S,SNP,SNVindel,exonic,DENND6B,NA,nonsynonymous SNV,DENND6B:NM_001001794:exon15:c.C1222T:p.P408S,T,D,D,.,D,T
chr22,50875937,50875937,C,T,R007_S,PPP6R2,Silent,NM_001242899,exon15,c.C1608T,p.A536A,SNP,SNVindel,exonic,PPP6R2,NA,synonymous SNV,"PPP6R2:NM_001242899:exon15:c.C1608T:p.A536A,PPP6R2:NM_001242900:exon15:c.C1605T:p.A535A,PPP6R2:NM_001351644:exon15:c.C1605T:p.A535A,PPP6R2:NM_001351646:exon15:c.C1602T:p.A534A,PPP6R2:NM_001351648:exon15:c.C1119T:p.A373A,PPP6R2:NM_014678:exon15:c.C1605T:p.A535A,PPP6R2:NM_001242898:exon16:c.C1686T:p.A562A,PPP6R2:NM_001351641:exon16:c.C1689T:p.A563A,PPP6R2:NM_001351642:exon16:c.C1686T:p.A562A,PPP6R2:NM_001351645:exon16:c.C1605T:p.A535A,PPP6R2:NM_001351647:exon16:c.C1200T:p.A400A,PPP6R2:NM_001351643:exon17:c.C1686T:p.A562A,PPP6R2:NM_001365836:exon18:c.C1686T:p.A562A",NA,NA,NA,NA,NA,NA
chr22,50904204,50904204,G,A,R007_S,SBF1,Silent,NM_001365819,exon10,c.C1080T,p.S360S,SNP,SNVindel,exonic,SBF1,NA,synonymous SNV,"SBF1:NM_001365819:exon10:c.C1080T:p.S360S,SBF1:NM_002972:exon10:c.C1077T:p.S359S",NA,NA,NA,NA,NA,NA
chr22,50921281,50921281,C,T,R007_S,ADM2,Silent,NM_001369882,exon2,c.C396T,p.G132G,SNP,SNVindel,exonic,ADM2,NA,synonymous SNV,"ADM2:NM_001369882:exon2:c.C396T:p.G132G,ADM2:NM_001253845:exon3:c.C396T:p.G132G",NA,NA,NA,NA,NA,NA
chr22,50942050,50942050,G,A,R007_S,LMF2,Missense_Mutation,NM_001363816,exon14,c.C1819T,p.P607S,SNP,SNVindel,exonic,LMF2,NA,nonsynonymous SNV,"LMF2:NM_001363816:exon14:c.C1819T:p.P607S,LMF2:NM_033200:exon14:c.C1894T:p.P632S",T,N,N,T,N,T
chr22,51008050,51008050,G,A,R007_S,CPT1B,Silent,NM_001145134,exon17,c.C2088T,p.N696N,SNP,SNVindel,exonic,CPT1B,NA,synonymous SNV,"CPT1B:NM_001145134:exon17:c.C2088T:p.N696N,CPT1B:NM_001145137:exon17:c.C2190T:p.N730N,CPT1B:NM_001145135:exon18:c.C2190T:p.N730N,CPT1B:NM_004377:exon18:c.C2190T:p.N730N,CPT1B:NM_152245:exon18:c.C2190T:p.N730N,CPT1B:NM_152246:exon18:c.C2190T:p.N730N",NA,NA,NA,NA,NA,NA
chr22,51063777,51063777,G,A,R007_S,ARSA,Silent,NM_000487,exon8,c.C1326T,p.N442N,SNP,SNVindel,exonic,ARSA,NA,synonymous SNV,"ARSA:NM_000487:exon8:c.C1326T:p.N442N,ARSA:NM_001085428:exon8:c.C1068T:p.N356N,ARSA:NM_001362782:exon8:c.C1068T:p.N356N,ARSA:NM_001085425:exon9:c.C1326T:p.N442N,ARSA:NM_001085426:exon9:c.C1326T:p.N442N,ARSA:NM_001085427:exon9:c.C1326T:p.N442N",NA,NA,NA,NA,NA,NA
chr22,51169627,51169627,G,A,R007_S,SHANK3,Missense_Mutation,NM_033517,exon22,c.G5041A,p.E1681K,SNP,SNVindel,exonic,SHANK3,NA,nonsynonymous SNV,SHANK3:NM_033517:exon22:c.G5041A:p.E1681K,NA,NA,NA,NA,NA,NA
chrX,3235694,3235694,G,A,R007_S,MXRA5,Missense_Mutation,NM_015419,exon6,c.C6028T,p.L2010F,SNP,SNVindel,exonic,MXRA5,NA,nonsynonymous SNV,MXRA5:NM_015419:exon6:c.C6028T:p.L2010F,D,U,D,D,D,D
chrX,8538682,8538682,C,T,R007_S,ANOS1,Missense_Mutation,NM_000216,exon7,c.G920A,p.G307E,SNP,SNVindel,exonic,ANOS1,NA,nonsynonymous SNV,ANOS1:NM_000216:exon7:c.G920A:p.G307E,D,N,D,T,D,T
chrX,9863307,9863307,G,A,R007_S,SHROOM2,Silent,NM_001649,exon4,c.G1359A,p.Q453Q,SNP,SNVindel,exonic,SHROOM2,NA,synonymous SNV,SHROOM2:NM_001649:exon4:c.G1359A:p.Q453Q,NA,NA,NA,NA,NA,NA
chrX,9935439,9935439,C,T,R007_S,CLDN34,Silent,NM_001195081,exon1,c.C42T,p.V14V,SNP,SNVindel,exonic,CLDN34,NA,synonymous SNV,CLDN34:NM_001195081:exon1:c.C42T:p.V14V,NA,NA,NA,NA,NA,NA
chrX,13681187,13681187,G,A,R007_S,TCEANC,Missense_Mutation,NM_001297564,exon3,c.G560A,p.S187N,SNP,SNVindel,exonic,TCEANC,NA,nonsynonymous SNV,"TCEANC:NM_001297564:exon3:c.G560A:p.S187N,TCEANC:NM_152634:exon4:c.G650A:p.S217N,TCEANC:NM_001297563:exon5:c.G560A:p.S187N",T,N,N,T,N,T
chrX,13727156,13727156,C,T,R007_S,RAB9A,Silent,NM_001195328,exon2,c.C291T,p.N97N,SNP,SNVindel,exonic,RAB9A,NA,synonymous SNV,"RAB9A:NM_001195328:exon2:c.C291T:p.N97N,RAB9A:NM_004251:exon3:c.C291T:p.N97N",NA,NA,NA,NA,NA,NA
chrX,14038424,14038424,G,A,R007_S,GEMIN8,Missense_Mutation,NM_001042480,exon3,c.C245T,p.A82V,SNP,SNVindel,exonic,GEMIN8,NA,nonsynonymous SNV,"GEMIN8:NM_001042480:exon3:c.C245T:p.A82V,GEMIN8:NM_001042479:exon4:c.C245T:p.A82V,GEMIN8:NM_017856:exon4:c.C245T:p.A82V",T,N,N,T,N,T
chrX,15268578,15268578,G,A,R007_S,ASB9,Missense_Mutation,NM_001031739,exon5,c.C542T,p.A181V,SNP,SNVindel,exonic,ASB9,NA,nonsynonymous SNV,"ASB9:NM_001031739:exon5:c.C542T:p.A181V,ASB9:NM_001168530:exon5:c.C512T:p.A171V,ASB9:NM_024087:exon5:c.C542T:p.A181V,ASB9:NM_001168531:exon6:c.C542T:p.A181V",D,D,N,T,N,T
chrX,15277010,15277010,G,A,R007_S,ASB9,Missense_Mutation,NM_001031739,exon2,c.C152T,p.S51F,SNP,SNVindel,exonic,ASB9,NA,nonsynonymous SNV,"ASB9:NM_001031739:exon2:c.C152T:p.S51F,ASB9:NM_001168530:exon2:c.C152T:p.S51F,ASB9:NM_024087:exon2:c.C152T:p.S51F,ASB9:NM_001168531:exon3:c.C152T:p.S51F",D,D,N,T,D,T
chrX,15287927,15287927,G,A,R007_S,ASB9,Missense_Mutation,NM_001031739,exon1,c.C70T,p.L24F,SNP,SNVindel,exonic,ASB9,NA,nonsynonymous SNV,"ASB9:NM_001031739:exon1:c.C70T:p.L24F,ASB9:NM_001168530:exon1:c.C70T:p.L24F,ASB9:NM_024087:exon1:c.C70T:p.L24F,ASB9:NM_001168531:exon2:c.C70T:p.L24F",T,N,N,T,N,T
chrX,16804628,16804628,G,A,R007_S,TXLNG,Silent,NM_001168683,exon1,c.G18A,p.E6E,SNP,SNVindel,exonic,TXLNG,NA,synonymous SNV,"TXLNG:NM_001168683:exon1:c.G18A:p.E6E,TXLNG:NM_018360:exon1:c.G18A:p.E6E",NA,NA,NA,NA,NA,NA
chrX,17744988,17744988,G,A,R007_S,NHS,Missense_Mutation,NM_001291868,exon6,c.G2168A,p.G723D,SNP,SNVindel,exonic,NHS,NA,nonsynonymous SNV,"NHS:NM_001291868:exon6:c.G2168A:p.G723D,NHS:NM_198270:exon6:c.G2699A:p.G900D,NHS:NM_001136024:exon7:c.G2231A:p.G744D,NHS:NM_001291867:exon7:c.G2762A:p.G921D",T,N,N,T,N,T
chrX,17745597,17745597,G,A,R007_S,NHS,Missense_Mutation,NM_001291868,exon6,c.G2777A,p.R926K,SNP,SNVindel,exonic,NHS,NA,nonsynonymous SNV,"NHS:NM_001291868:exon6:c.G2777A:p.R926K,NHS:NM_198270:exon6:c.G3308A:p.R1103K,NHS:NM_001136024:exon7:c.G2840A:p.R947K,NHS:NM_001291867:exon7:c.G3371A:p.R1124K",T,N,N,T,N,T
chrX,18671647,18671647,G,A,R007_S,CDKL5,Missense_Mutation,NM_003159,exon21,c.G3076A,p.A1026T,SNP,SNVindel,exonic,CDKL5,NA,nonsynonymous SNV,"CDKL5:NM_003159:exon21:c.G3076A:p.A1026T,CDKL5:NM_001037343:exon22:c.G3076A:p.A1026T",D,N,N,T,N,T
chrX,21887796,21887796,G,A,R007_S,MBTPS2,Missense_Mutation,NM_015884,exon7,c.G970A,p.A324T,SNP,SNVindel,exonic,MBTPS2,NA,nonsynonymous SNV,MBTPS2:NM_015884:exon7:c.G970A:p.A324T,T,D,D,D,N,T
chrX,22292376,22292376,G,A,R007_S,CBLL2,Missense_Mutation,NM_152577,exon1,c.G1268A,p.R423K,SNP,SNVindel,exonic,CBLL2,NA,nonsynonymous SNV,CBLL2:NM_152577:exon1:c.G1268A:p.R423K,D,N,N,T,N,T
chrX,23019812,23019812,G,A,R007_S,DDX53,Silent,NM_182699,exon1,c.G1638A,p.R546R,SNP,SNVindel,exonic,DDX53,NA,synonymous SNV,DDX53:NM_182699:exon1:c.G1638A:p.R546R,NA,NA,NA,NA,NA,NA
chrX,23398015,23398015,G,A,R007_S,PTCHD1,Missense_Mutation,NM_173495,exon2,c.G659A,p.S220N,SNP,SNVindel,exonic,PTCHD1,NA,nonsynonymous SNV,PTCHD1:NM_173495:exon2:c.G659A:p.S220N,D,N,N,D,N,T
chrX,24382552,24382552,G,A,R007_S,SUPT20HL1,Missense_Mutation,NM_001136234,exon1,c.G1753A,p.A585T,SNP,SNVindel,exonic,SUPT20HL1,NA,nonsynonymous SNV,SUPT20HL1:NM_001136234:exon1:c.G1753A:p.A585T,NA,NA,NA,NA,NA,NA
chrX,24521602,24521602,C,T,R007_S,PDK3,Missense_Mutation,NM_001142386,exon4,c.C479T,p.S160F,SNP,SNVindel,exonic,PDK3,NA,nonsynonymous SNV,"PDK3:NM_001142386:exon4:c.C479T:p.S160F,PDK3:NM_005391:exon4:c.C479T:p.S160F",D,D,D,T,D,T
chrX,26236145,26236145,G,A,R007_S,MAGEB5,Missense_Mutation,NM_001271752,exon2,c.G727A,p.E243K,SNP,SNVindel,exonic,MAGEB5,NA,nonsynonymous SNV,MAGEB5:NM_001271752:exon2:c.G727A:p.E243K,.,U,N,T,.,T
chrX,27998971,27998971,G,A,R007_S,DCAF8L1,Missense_Mutation,NM_001017930,exon1,c.C481T,p.L161F,SNP,SNVindel,exonic,DCAF8L1,NA,nonsynonymous SNV,DCAF8L1:NM_001017930:exon1:c.C481T:p.L161F,D,D,D,T,D,T
chrX,30269200,30269200,G,A,R007_S,MAGEB1,Missense_Mutation,NM_177404,exon2,c.G590A,p.R197K,SNP,SNVindel,exonic,MAGEB1,NA,nonsynonymous SNV,"MAGEB1:NM_177404:exon2:c.G590A:p.R197K,MAGEB1:NM_177415:exon3:c.G590A:p.R197K,MAGEB1:NM_002363:exon4:c.G590A:p.R197K",T,N,N,T,N,T
chrX,30326901,30326901,C,T,R007_S,NR0B1,Missense_Mutation,NM_000475,exon1,c.G580A,p.A194T,SNP,SNVindel,exonic,NR0B1,NA,nonsynonymous SNV,NR0B1:NM_000475:exon1:c.G580A:p.A194T,T,N,N,D,N,D
chrX,37027842,37027842,G,A,R007_S,FAM47C,Silent,NM_001013736,exon1,c.G1359A,p.E453E,SNP,SNVindel,exonic,FAM47C,NA,synonymous SNV,FAM47C:NM_001013736:exon1:c.G1359A:p.E453E,NA,NA,NA,NA,NA,NA
chrX,37029451,37029451,G,A,R007_S,FAM47C,Missense_Mutation,NM_001013736,exon1,c.G2968A,p.G990S,SNP,SNVindel,exonic,FAM47C,NA,nonsynonymous SNV,FAM47C:NM_001013736:exon1:c.G2968A:p.G990S,D,.,N,T,D,T
chrX,37639354,37639354,G,A,R007_S,CYBB,Silent,NM_000397,exon1,c.G24A,p.E8E,SNP,SNVindel,exonic,CYBB,NA,synonymous SNV,CYBB:NM_000397:exon1:c.G24A:p.E8E,NA,NA,NA,NA,NA,NA
chrX,39913184,39913184,G,A,R007_S,BCOR,Missense_Mutation,NM_001123384,exon13,c.C4775T,p.T1592I,SNP,SNVindel,exonic,BCOR,NA,nonsynonymous SNV,"BCOR:NM_001123384:exon13:c.C4775T:p.T1592I,BCOR:NM_001123383:exon14:c.C4829T:p.T1610I,BCOR:NM_001123385:exon14:c.C4931T:p.T1644I,BCOR:NM_017745:exon14:c.C4829T:p.T1610I",T,.,N,T,N,T
chrX,42637193,42637193,C,T,R007_S,PPP1R2C,Silent,NM_025210,exon1,c.G138A,p.K46K,SNP,SNVindel,exonic,PPP1R2C,NA,synonymous SNV,PPP1R2C:NM_025210:exon1:c.G138A:p.K46K,NA,NA,NA,NA,NA,NA
chrX,44120530,44120530,G,A,R007_S,EFHC2,Missense_Mutation,NM_025184,exon4,c.C397T,p.R133C,SNP,SNVindel,exonic,EFHC2,NA,nonsynonymous SNV,EFHC2:NM_025184:exon4:c.C397T:p.R133C,.,D,D,.,.,D
chrX,46322292,46322292,G,A,R007_S,KRBOX4,Missense_Mutation,NM_001129898,exon4,c.G125A,p.S42N,SNP,SNVindel,exonic,KRBOX4,NA,nonsynonymous SNV,"KRBOX4:NM_001129898:exon4:c.G125A:p.S42N,KRBOX4:NM_001129899:exon4:c.G125A:p.S42N,KRBOX4:NM_001129900:exon4:c.G125A:p.S42N,KRBOX4:NM_017776:exon4:c.G125A:p.S42N",T,.,N,T,D,T
chrX,47030427,47030427,G,A,R007_S,RBM10,Missense_Mutation,NM_001204467,exon4,c.G202A,p.D68N,SNP,SNVindel,exonic,RBM10,NA,nonsynonymous SNV,"RBM10:NM_001204467:exon4:c.G202A:p.D68N,RBM10:NM_001204468:exon4:c.G397A:p.D133N,RBM10:NM_005676:exon4:c.G202A:p.D68N",D,N,D,T,N,T
chrX,47030443,47030443,C,T,R007_S,RBM10,Missense_Mutation,NM_001204467,exon4,c.C218T,p.S73F,SNP,SNVindel,exonic,RBM10,NA,nonsynonymous SNV,"RBM10:NM_001204467:exon4:c.C218T:p.S73F,RBM10:NM_001204468:exon4:c.C413T:p.S138F,RBM10:NM_005676:exon4:c.C218T:p.S73F",D,N,D,T,N,T
chrX,47070507,47070507,G,A,R007_S,UBA1,Missense_Mutation,NM_003334,exon20,c.G2347A,p.D783N,SNP,SNVindel,exonic,UBA1,NA,nonsynonymous SNV,"UBA1:NM_003334:exon20:c.G2347A:p.D783N,UBA1:NM_153280:exon20:c.G2347A:p.D783N",T,D,D,T,D,T
chrX,48925005,48925005,C,T,R007_S,CCDC120,Missense_Mutation,NM_001163321,exon10,c.C1355T,p.P452L,SNP,SNVindel,exonic,CCDC120,NA,nonsynonymous SNV,"CCDC120:NM_001163321:exon10:c.C1355T:p.P452L,CCDC120:NM_001163322:exon10:c.C1214T:p.P405L,CCDC120:NM_001163323:exon10:c.C1214T:p.P405L,CCDC120:NM_001271835:exon10:c.C1250T:p.P417L,CCDC120:NM_001271836:exon10:c.C1250T:p.P417L,CCDC120:NM_033626:exon10:c.C1250T:p.P417L",T,N,D,.,N,T
chrX,49837208,49837208,G,A,R007_S,CLCN5,Missense_Mutation,NM_000084,exon3,c.G170A,p.G57D,SNP,SNVindel,exonic,CLCN5,NA,nonsynonymous SNV,"CLCN5:NM_000084:exon3:c.G170A:p.G57D,CLCN5:NM_001282163:exon3:c.G230A:p.G77D,CLCN5:NM_001127898:exon6:c.G380A:p.G127D,CLCN5:NM_001127899:exon6:c.G380A:p.G127D",D,D,D,D,D,D
chrX,49851090,49851090,G,A,R007_S,CLCN5,Missense_Mutation,NM_000084,exon8,c.G910A,p.V304I,SNP,SNVindel,exonic,CLCN5,NA,nonsynonymous SNV,"CLCN5:NM_000084:exon8:c.G910A:p.V304I,CLCN5:NM_001282163:exon8:c.G970A:p.V324I,CLCN5:NM_001127898:exon11:c.G1120A:p.V374I,CLCN5:NM_001127899:exon11:c.G1120A:p.V374I",D,D,D,D,N,D
chrX,49958711,49958711,G,A,R007_S,AKAP4,Missense_Mutation,NM_003886,exon5,c.C653T,p.S218F,SNP,SNVindel,exonic,AKAP4,NA,nonsynonymous SNV,"AKAP4:NM_003886:exon5:c.C653T:p.S218F,AKAP4:NM_139289:exon5:c.C626T:p.S209F",D,D,D,T,D,T
chrX,50052684,50052684,G,A,R007_S,CCNB3,Silent,NM_033031,exon6,c.G1515A,p.K505K,SNP,SNVindel,exonic,CCNB3,NA,synonymous SNV,CCNB3:NM_033031:exon6:c.G1515A:p.K505K,NA,NA,NA,NA,NA,NA
chrX,54044166,54044166,G,A,R007_S,PHF8,Silent,NM_001184896,exon5,c.C490T,p.L164L,SNP,SNVindel,exonic,PHF8,NA,synonymous SNV,"PHF8:NM_001184896:exon5:c.C490T:p.L164L,PHF8:NM_001184897:exon5:c.C382T:p.L128L,PHF8:NM_001184898:exon5:c.C382T:p.L128L,PHF8:NM_015107:exon5:c.C382T:p.L128L",NA,NA,NA,NA,NA,NA
chrX,54263820,54263820,C,T,R007_S,WNK3,Silent,NM_001002838,exon20,c.G4038A,p.S1346S,SNP,SNVindel,exonic,WNK3,NA,synonymous SNV,"WNK3:NM_001002838:exon20:c.G4038A:p.S1346S,WNK3:NM_020922:exon20:c.G4179A:p.S1393S",NA,NA,NA,NA,NA,NA
chrX,54783592,54783592,C,A,R007_S,ITIH6,Missense_Mutation,NM_198510,exon8,c.G2915T,p.S972I,SNP,SNVindel,exonic,ITIH6,NA,nonsynonymous SNV,ITIH6:NM_198510:exon8:c.G2915T:p.S972I,D,U,N,T,N,T
chrX,54956917,54956917,G,A,R007_S,TRO,Missense_Mutation,NM_001271183,exon10,c.G2353A,p.G785S,SNP,SNVindel,exonic,TRO,NA,nonsynonymous SNV,"TRO:NM_001271183:exon10:c.G2353A:p.G785S,TRO:NM_001271184:exon11:c.G2569A:p.G857S,TRO:NM_001039705:exon12:c.G3760A:p.G1254S",T,.,N,T,N,T
chrX,55513454,55513454,G,A,R007_S,USP51,Missense_Mutation,NM_201286,exon2,c.C1919T,p.T640I,SNP,SNVindel,exonic,USP51,NA,nonsynonymous SNV,USP51:NM_201286:exon2:c.C1919T:p.T640I,T,U,N,T,N,T
chrX,56590409,56590409,G,A,R007_S,UBQLN2,Missense_Mutation,NM_013444,exon1,c.G103A,p.V35I,SNP,SNVindel,exonic,UBQLN2,NA,nonsynonymous SNV,UBQLN2:NM_013444:exon1:c.G103A:p.V35I,T,D,D,T,N,T
chrX,64709171,64709171,G,A,R007_S,ZC3H12B,Missense_Mutation,NM_001010888,exon1,c.G490A,p.V164M,SNP,SNVindel,exonic,ZC3H12B,NA,nonsynonymous SNV,ZC3H12B:NM_001010888:exon1:c.G490A:p.V164M,D,.,N,T,N,T
chrX,69563607,69563607,G,A,R007_S,KIF4A,Missense_Mutation,NM_012310,exon12,c.G1321A,p.A441T,SNP,SNVindel,exonic,KIF4A,NA,nonsynonymous SNV,KIF4A:NM_012310:exon12:c.G1321A:p.A441T,T,N,D,T,N,T
chrX,69722072,69722072,G,A,R007_S,DLG3,Missense_Mutation,NM_001166278,exon12,c.G1054A,p.D352N,SNP,SNVindel,exonic,DLG3,NA,nonsynonymous SNV,"DLG3:NM_001166278:exon12:c.G1054A:p.D352N,DLG3:NM_020730:exon14:c.G1492A:p.D498N,DLG3:NM_021120:exon19:c.G2407A:p.D803N",D,D,D,T,N,T
chrX,70757913,70757913,G,A,R007_S,OGT,Silent,NM_181672,exon3,c.G453A,p.Q151Q,SNP,SNVindel,exonic,OGT,NA,synonymous SNV,"OGT:NM_181672:exon3:c.G453A:p.Q151Q,OGT:NM_181673:exon3:c.G423A:p.Q141Q",NA,NA,NA,NA,NA,NA
chrX,71358577,71358577,G,A,R007_S,NHSL2,Silent,NM_001013627,exon6,c.G1179A,p.K393K,SNP,SNVindel,exonic,NHSL2,NA,synonymous SNV,NHSL2:NM_001013627:exon6:c.G1179A:p.K393K,NA,NA,NA,NA,NA,NA
chrX,73963585,73963585,C,T,R007_S,NEXMIF,Silent,NM_001008537,exon3,c.G807A,p.K269K,SNP,SNVindel,exonic,NEXMIF,NA,synonymous SNV,NEXMIF:NM_001008537:exon3:c.G807A:p.K269K,NA,NA,NA,NA,NA,NA
chrX,79286298,79286298,G,A,R007_S,TBX22,Silent,NM_001303475,exon7,c.G891A,p.G297G,SNP,SNVindel,exonic,TBX22,NA,synonymous SNV,"TBX22:NM_001303475:exon7:c.G891A:p.G297G,TBX22:NM_016954:exon8:c.G1251A:p.G417G,TBX22:NM_001109878:exon9:c.G1251A:p.G417G,TBX22:NM_001109879:exon9:c.G891A:p.G297G",NA,NA,NA,NA,NA,NA
chrX,84510504,84510504,G,A,R007_S,ZNF711,Missense_Mutation,NM_021998,exon4,c.G319A,p.D107N,SNP,SNVindel,exonic,ZNF711,NA,nonsynonymous SNV,"ZNF711:NM_021998:exon4:c.G319A:p.D107N,ZNF711:NM_001330574:exon5:c.G319A:p.D107N",T,N,D,T,N,T
chrX,84526539,84526539,G,A,R007_S,ZNF711,Missense_Mutation,NM_021998,exon9,c.G1991A,p.G664D,SNP,SNVindel,exonic,ZNF711,NA,nonsynonymous SNV,"ZNF711:NM_021998:exon9:c.G1991A:p.G664D,ZNF711:NM_001330574:exon11:c.G2129A:p.G710D",T,D,D,T,N,T
chrX,92965055,92965055,G,A,R007_S,FAM133A,Missense_Mutation,NM_001171111,exon3,c.G637A,p.E213K,SNP,SNVindel,exonic,FAM133A,NA,nonsynonymous SNV,"FAM133A:NM_001171111:exon3:c.G637A:p.E213K,FAM133A:NM_001171109:exon4:c.G637A:p.E213K,FAM133A:NM_173698:exon4:c.G637A:p.E213K,FAM133A:NM_001171110:exon5:c.G637A:p.E213K",D,U,N,T,N,T
chrX,96139975,96139975,G,A,R007_S,RPA4,Silent,NM_013347,exon1,c.G666A,p.E222E,SNP,SNVindel,exonic,RPA4,NA,synonymous SNV,RPA4:NM_013347:exon1:c.G666A:p.E222E,NA,NA,NA,NA,NA,NA
chrX,99663010,99663010,G,A,R007_S,PCDH19,Silent,NM_001105243,exon1,c.C586T,p.L196L,SNP,SNVindel,exonic,PCDH19,NA,synonymous SNV,"PCDH19:NM_001105243:exon1:c.C586T:p.L196L,PCDH19:NM_001184880:exon1:c.C586T:p.L196L,PCDH19:NM_020766:exon1:c.C586T:p.L196L",NA,NA,NA,NA,NA,NA
chrX,99854614,99854614,G,A,R007_S,TNMD,Missense_Mutation,NM_022144,exon7,c.G854A,p.G285D,SNP,SNVindel,exonic,TNMD,NA,nonsynonymous SNV,TNMD:NM_022144:exon7:c.G854A:p.G285D,D,D,D,T,D,T
chrX,99917300,99917300,G,A,R007_S,SRPX2,Silent,NM_014467,exon4,c.G291A,p.L97L,SNP,SNVindel,exonic,SRPX2,NA,synonymous SNV,SRPX2:NM_014467:exon4:c.G291A:p.L97L,NA,NA,NA,NA,NA,NA
chrX,100087748,100087748,G,A,R007_S,CSTF2,Missense_Mutation,NM_001306209,exon10,c.G1006A,p.G336S,SNP,SNVindel,exonic,CSTF2,NA,nonsynonymous SNV,"CSTF2:NM_001306209:exon10:c.G1006A:p.G336S,CSTF2:NM_001325:exon10:c.G1057A:p.G353S,CSTF2:NM_001306206:exon11:c.G1117A:p.G373S",D,D,D,T,N,T
chrX,100745198,100745198,G,A,R007_S,ARMCX4,Missense_Mutation,NM_001256155,exon2,c.G1622A,p.G541E,SNP,SNVindel,exonic,ARMCX4,NA,nonsynonymous SNV,ARMCX4:NM_001256155:exon2:c.G1622A:p.G541E,.,.,N,T,.,T
chrX,103042878,103042878,C,T,R007_S,PLP1,Missense_Mutation,NM_000533,exon4,c.C605T,p.A202V,SNP,SNVindel,exonic,PLP1,NA,nonsynonymous SNV,"PLP1:NM_000533:exon4:c.C605T:p.A202V,PLP1:NM_001305004:exon4:c.C440T:p.A147V,PLP1:NM_199478:exon4:c.C500T:p.A167V,PLP1:NM_001128834:exon5:c.C605T:p.A202V",.,D,D,.,.,D
chrX,105855463,105855463,G,A,R007_S,RADX,Silent,NM_001184782,exon1,c.G153A,p.E51E,SNP,SNVindel,exonic,RADX,NA,synonymous SNV,"RADX:NM_001184782:exon1:c.G153A:p.E51E,RADX:NM_018015:exon1:c.G153A:p.E51E",NA,NA,NA,NA,NA,NA
chrX,107037836,107037836,G,A,R007_S,NCBP2L,Missense_Mutation,NM_001348372,exon2,c.G386A,p.G129E,SNP,SNVindel,exonic,NCBP2L,NA,nonsynonymous SNV,NCBP2L:NM_001348372:exon2:c.G386A:p.G129E,.,N,N,.,.,T
chrX,107979069,107979069,G,A,R007_S,IRS4,Missense_Mutation,NM_003604,exon1,c.C506T,p.A169V,SNP,SNVindel,exonic,IRS4,NA,nonsynonymous SNV,IRS4:NM_003604:exon1:c.C506T:p.A169V,T,D,D,T,D,T
chrX,114468355,114468355,G,A,R007_S,LRCH2,Silent,NM_001243963,exon1,c.C250T,p.L84L,SNP,SNVindel,exonic,LRCH2,NA,synonymous SNV,"LRCH2:NM_001243963:exon1:c.C250T:p.L84L,LRCH2:NM_020871:exon1:c.C250T:p.L84L",NA,NA,NA,NA,NA,NA
chrX,114880411,114880411,G,A,R007_S,PLS3,Missense_Mutation,NM_001136025,exon12,c.G1282A,p.V428I,SNP,SNVindel,exonic,PLS3,NA,nonsynonymous SNV,"PLS3:NM_001136025:exon12:c.G1282A:p.V428I,PLS3:NM_001172335:exon12:c.G1201A:p.V401I,PLS3:NM_005032:exon12:c.G1282A:p.V428I,PLS3:NM_001282338:exon13:c.G1147A:p.V383I,PLS3:NM_001282337:exon14:c.G1243A:p.V415I",T,D,D,D,N,D
chrX,118220941,118220941,G,A,R007_S,KIAA1210,Missense_Mutation,NM_020721,exon11,c.C4252T,p.P1418S,SNP,SNVindel,exonic,KIAA1210,NA,nonsynonymous SNV,KIAA1210:NM_020721:exon11:c.C4252T:p.P1418S,T,.,N,T,N,T
chrX,118221681,118221681,G,A,R007_S,KIAA1210,Missense_Mutation,NM_020721,exon11,c.C3512T,p.T1171I,SNP,SNVindel,exonic,KIAA1210,NA,nonsynonymous SNV,KIAA1210:NM_020721:exon11:c.C3512T:p.T1171I,T,.,N,T,N,T
chrX,123554338,123554338,C,T,R007_S,TENM1,Missense_Mutation,NM_014253,exon24,c.G4784A,p.G1595E,SNP,SNVindel,exonic,TENM1,NA,nonsynonymous SNV,"TENM1:NM_014253:exon24:c.G4784A:p.G1595E,TENM1:NM_001163278:exon25:c.G4805A:p.G1602E,TENM1:NM_001163279:exon25:c.G4802A:p.G1601E",D,D,D,D,D,D
chrX,125299730,125299730,C,T,R007_S,DCAF12L2,Missense_Mutation,NM_001013628,exon1,c.G178A,p.V60I,SNP,SNVindel,exonic,DCAF12L2,NA,nonsynonymous SNV,DCAF12L2:NM_001013628:exon1:c.G178A:p.V60I,T,.,N,T,N,T
chrX,131348390,131348390,G,A,R007_S,RAP2C,Silent,NM_021183,exon3,c.C358T,p.L120L,SNP,SNVindel,exonic,RAP2C,NA,synonymous SNV,"RAP2C:NM_021183:exon3:c.C358T:p.L120L,RAP2C:NM_001271186:exon5:c.C358T:p.L120L,RAP2C:NM_001271187:exon5:c.C160T:p.L54L",NA,NA,NA,NA,NA,NA
chrX,133986871,133986871,G,A,R007_S,FAM122C,Silent,NM_001170779,exon6,c.G387A,p.K129K,SNP,SNVindel,exonic,FAM122C,NA,synonymous SNV,FAM122C:NM_001170779:exon6:c.G387A:p.K129K,NA,NA,NA,NA,NA,NA
chrX,134125220,134125220,C,T,R007_S,SMIM10,Missense_Mutation,NM_001163438,exon1,c.C95T,p.P32L,SNP,SNVindel,exonic,SMIM10,NA,nonsynonymous SNV,SMIM10:NM_001163438:exon1:c.C95T:p.P32L,T,U,N,.,N,T
chrX,135429677,135429677,C,T,R007_S,ADGRG4,Missense_Mutation,NM_153834,exon6,c.C3812T,p.T1271I,SNP,SNVindel,exonic,ADGRG4,NA,nonsynonymous SNV,ADGRG4:NM_153834:exon6:c.C3812T:p.T1271I,D,.,N,T,N,T
chrX,140994438,140994438,C,T,R007_S,MAGEC1,Silent,NM_005462,exon4,c.C1248T,p.F416F,SNP,SNVindel,exonic,MAGEC1,NA,synonymous SNV,MAGEC1:NM_005462:exon4:c.C1248T:p.F416F,NA,NA,NA,NA,NA,NA
chrX,142718257,142718257,G,A,R007_S,SLITRK4,Missense_Mutation,NM_001184749,exon2,c.C668T,p.P223L,SNP,SNVindel,exonic,SLITRK4,NA,nonsynonymous SNV,"SLITRK4:NM_001184749:exon2:c.C668T:p.P223L,SLITRK4:NM_001184750:exon2:c.C668T:p.P223L,SLITRK4:NM_173078:exon2:c.C668T:p.P223L",D,U,D,T,D,T
chrX,144904092,144904092,G,A,R007_S,SLITRK2,Missense_Mutation,NM_001144009,exon2,c.G149A,p.G50E,SNP,SNVindel,exonic,SLITRK2,NA,nonsynonymous SNV,"SLITRK2:NM_001144009:exon2:c.G149A:p.G50E,SLITRK2:NM_001144006:exon3:c.G149A:p.G50E,SLITRK2:NM_001144008:exon3:c.G149A:p.G50E,SLITRK2:NM_001144010:exon3:c.G149A:p.G50E,SLITRK2:NM_001144003:exon5:c.G149A:p.G50E,SLITRK2:NM_001144004:exon5:c.G149A:p.G50E,SLITRK2:NM_001144005:exon5:c.G149A:p.G50E,SLITRK2:NM_032539:exon5:c.G149A:p.G50E",D,U,D,T,D,T
chrX,147744101,147744101,C,T,R007_S,AFF2,Missense_Mutation,NM_001169122,exon3,c.C841T,p.P281S,SNP,SNVindel,exonic,AFF2,NA,nonsynonymous SNV,"AFF2:NM_001169122:exon3:c.C841T:p.P281S,AFF2:NM_001169123:exon3:c.C841T:p.P281S,AFF2:NM_001169124:exon3:c.C853T:p.P285S,AFF2:NM_001169125:exon3:c.C841T:p.P281S,AFF2:NM_002025:exon3:c.C853T:p.P285S",D,D,D,D,D,D
chrX,148797450,148797450,C,T,R007_S,MAGEA11,Missense_Mutation,NM_001011544,exon5,c.C217T,p.R73W,SNP,SNVindel,exonic,MAGEA11,NA,nonsynonymous SNV,"MAGEA11:NM_001011544:exon5:c.C217T:p.R73W,MAGEA11:NM_005366:exon5:c.C304T:p.R102W",D,.,N,T,N,T
chrX,152710375,152710375,G,A,R007_S,TREX2,Missense_Mutation,NM_080701,exon2,c.C514T,p.L172F,SNP,SNVindel,exonic,TREX2,NA,nonsynonymous SNV,TREX2:NM_080701:exon2:c.C514T:p.L172F,D,U,N,T,D,D
chrX,153031677,153031677,C,T,R007_S,PLXNB3,Silent,NM_001163257,exon3,c.C12T,p.T4T,SNP,SNVindel,exonic,PLXNB3,NA,synonymous SNV,PLXNB3:NM_001163257:exon3:c.C12T:p.T4T,NA,NA,NA,NA,NA,NA
chrX,153033759,153033759,G,A,R007_S,PLXNB3,Missense_Mutation,NM_005393,exon4,c.G1142A,p.G381D,SNP,SNVindel,exonic,PLXNB3,NA,nonsynonymous SNV,"PLXNB3:NM_005393:exon4:c.G1142A:p.G381D,PLXNB3:NM_001163257:exon5:c.G1211A:p.G404D",T,N,D,T,N,T
chrX,153040173,153040173,G,A,R007_S,PLXNB3,Silent,NM_005393,exon23,c.G3843A,p.K1281K,SNP,SNVindel,exonic,PLXNB3,NA,synonymous SNV,"PLXNB3:NM_005393:exon23:c.G3843A:p.K1281K,PLXNB3:NM_001163257:exon24:c.G3912A:p.K1304K",NA,NA,NA,NA,NA,NA
chrX,153044062,153044062,C,T,R007_S,PLXNB3,Missense_Mutation,NM_005393,exon35,c.C5558T,p.T1853I,SNP,SNVindel,exonic,PLXNB3,NA,nonsynonymous SNV,"PLXNB3:NM_005393:exon35:c.C5558T:p.T1853I,PLXNB3:NM_001163257:exon36:c.C5627T:p.T1876I",D,N,N,T,D,T
chrX,153069298,153069298,G,A,R007_S,PDZD4,Missense_Mutation,NM_001303514,exon6,c.C1493T,p.P498L,SNP,SNVindel,exonic,PDZD4,NA,nonsynonymous SNV,"PDZD4:NM_001303514:exon6:c.C1493T:p.P498L,PDZD4:NM_001303512:exon8:c.C1838T:p.P613L,PDZD4:NM_001303515:exon8:c.C1595T:p.P532L,PDZD4:NM_001303516:exon8:c.C1577T:p.P526L,PDZD4:NM_032512:exon8:c.C1820T:p.P607L,PDZD4:NM_001303513:exon9:c.C1532T:p.P511L",T,U,D,T,N,T
chrX,153173212,153173212,C,T,R007_S,ARHGAP4,Missense_Mutation,NM_001666,exon22,c.G2812A,p.G938S,SNP,SNVindel,exonic,ARHGAP4,NA,nonsynonymous SNV,"ARHGAP4:NM_001666:exon22:c.G2812A:p.G938S,ARHGAP4:NM_001164741:exon23:c.G2932A:p.G978S",T,N,N,T,N,T
chrX,153596067,153596067,G,A,R007_S,FLNA,Missense_Mutation,NM_001110556,exon4,c.C662T,p.P221L,SNP,SNVindel,exonic,FLNA,NA,nonsynonymous SNV,"FLNA:NM_001110556:exon4:c.C662T:p.P221L,FLNA:NM_001456:exon4:c.C662T:p.P221L",D,D,D,D,D,D
chrX,153925448,153925448,G,A,R007_S,GAB3,Silent,NM_001081573,exon7,c.C1386T,p.I462I,SNP,SNVindel,exonic,GAB3,NA,synonymous SNV,"GAB3:NM_001081573:exon7:c.C1386T:p.I462I,GAB3:NM_001282283:exon7:c.C1386T:p.I462I,GAB3:NM_080612:exon7:c.C1383T:p.I461I",NA,NA,NA,NA,NA,NA
chrX,154490365,154490365,C,T,R007_S,RAB39B,Missense_Mutation,NM_171998,exon2,c.G365A,p.G122D,SNP,SNVindel,exonic,RAB39B,NA,nonsynonymous SNV,RAB39B:NM_171998:exon2:c.G365A:p.G122D,D,D,D,D,D,D
chrY,15028332,15028332,G,A,R007_S,DDX3Y,Missense_Mutation,NM_001302552,exon13,c.G1460A,p.S487N,SNP,SNVindel,exonic,DDX3Y,NA,nonsynonymous SNV,"DDX3Y:NM_001302552:exon13:c.G1460A:p.S487N,DDX3Y:NM_001324195:exon13:c.G1469A:p.S490N,DDX3Y:NM_004660:exon13:c.G1469A:p.S490N,DDX3Y:NM_001122665:exon14:c.G1469A:p.S490N",T,.,.,T,N,.
chrY,16734368,16734368,G,A,R007_S,NLGN4Y,Missense_Mutation,NM_001164238,exon1,c.G369A,p.M123I,SNP,SNVindel,exonic,NLGN4Y,NA,nonsynonymous SNV,"NLGN4Y:NM_001164238:exon1:c.G369A:p.M123I,NLGN4Y:NM_001365584:exon2:c.G369A:p.M123I,NLGN4Y:NM_001365586:exon2:c.G369A:p.M123I,NLGN4Y:NM_001365588:exon2:c.G369A:p.M123I,NLGN4Y:NM_001365591:exon2:c.G369A:p.M123I,NLGN4Y:NM_001365592:exon2:c.G369A:p.M123I,NLGN4Y:NM_001365593:exon2:c.G369A:p.M123I,NLGN4Y:NM_014893:exon2:c.G369A:p.M123I,NLGN4Y:NM_001365590:exon4:c.G369A:p.M123I",D,.,.,T,D,.
chr1,1957115,1957115,C,T,R008_F,GABRD,Silent,NM_000815,exon4,c.C408T,p.D136D,SNP,SNVindel,exonic,GABRD,NA,synonymous SNV,GABRD:NM_000815:exon4:c.C408T:p.D136D,NA,NA,NA,NA,NA,NA
chr1,152749091,152749091,C,T,R008_F,LCE1F,Missense_Mutation,NM_178354,exon1,c.C244T,p.R82W,SNP,SNVindel,exonic,LCE1F,NA,nonsynonymous SNV,LCE1F:NM_178354:exon1:c.C244T:p.R82W,.,.,P,T,D,T
chr1,185931778,185931778,G,A,R008_F,HMCN1,Missense_Mutation,NM_031935,exon12,c.G1957A,p.V653M,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon12:c.G1957A:p.V653M,T,N,N,T,N,T
chr1,186008945,186008945,T,C,R008_F,HMCN1,Silent,NM_031935,exon39,c.T6114C,p.I2038I,SNP,SNVindel,exonic,HMCN1,NA,synonymous SNV,HMCN1:NM_031935:exon39:c.T6114C:p.I2038I,NA,NA,NA,NA,NA,NA
chr1,247737608,247737608,C,A,R008_F,GCSAML,Missense_Mutation,NM_001281838,exon5,c.C236A,p.A79D,SNP,SNVindel,exonic,GCSAML,NA,nonsynonymous SNV,"GCSAML:NM_001281838:exon5:c.C236A:p.A79D,GCSAML:NM_145278:exon5:c.C332A:p.A111D,GCSAML:NM_001281835:exon6:c.C272A:p.A91D,GCSAML:NM_001281836:exon6:c.C236A:p.A79D,GCSAML:NM_001281837:exon6:c.C236A:p.A79D,GCSAML:NM_001281834:exon7:c.C272A:p.A91D,GCSAML:NM_001281853:exon7:c.C332A:p.A111D",D,N,N,.,D,T
chr2,39934238,39934238,T,C,R008_F,TMEM178A,Silent,NM_001167959,exon3,c.T18C,p.L6L,SNP,SNVindel,exonic,TMEM178A,NA,synonymous SNV,"TMEM178A:NM_001167959:exon3:c.T18C:p.L6L,TMEM178A:NM_152390:exon3:c.T564C:p.L188L",NA,NA,NA,NA,NA,NA
chr2,97350114,97350114,G,A,R008_F,FER1L5,Missense_Mutation,NM_001293083,exon20,c.G1720A,p.V574M,SNP,SNVindel,exonic,FER1L5,NA,nonsynonymous SNV,FER1L5:NM_001293083:exon20:c.G1720A:p.V574M,.,.,.,.,.,T
chr2,158412747,158412747,C,T,R008_F,ACVR1C,Nonsense_Mutation,NM_001111031,exon3,c.G252A,p.W84X,SNP,SNVindel,exonic,ACVR1C,NA,stopgain,"ACVR1C:NM_001111031:exon3:c.G252A:p.W84X,ACVR1C:NM_145259:exon3:c.G402A:p.W134X",.,N,A,.,.,.
chr2,169938144,169938144,G,A,R008_F,DHRS9,Missense_Mutation,NM_001142271,exon2,c.G53A,p.R18H,SNP,SNVindel,exonic,DHRS9,NA,nonsynonymous SNV,"DHRS9:NM_001142271:exon2:c.G53A:p.R18H,DHRS9:NM_001289763:exon2:c.G233A:p.R78H,DHRS9:NM_001142270:exon3:c.G53A:p.R18H,DHRS9:NM_199204:exon3:c.G53A:p.R18H",T,N,N,D,N,T
chr2,215846947,215846947,G,A,R008_F,ABCA12,Nonsense_Mutation,NM_015657,exon22,c.C3589T,p.R1197X,SNP,SNVindel,exonic,ABCA12,NA,stopgain,"ABCA12:NM_015657:exon22:c.C3589T:p.R1197X,ABCA12:NM_173076:exon30:c.C4543T:p.R1515X",.,N,A,.,.,.
chr2,239039959,239039959,C,T,R008_F,ESPNL,Silent,NM_001308370,exon4,c.C1500T,p.C500C,SNP,SNVindel,exonic,ESPNL,NA,synonymous SNV,"ESPNL:NM_001308370:exon4:c.C1500T:p.C500C,ESPNL:NM_194312:exon9:c.C2604T:p.C868C",NA,NA,NA,NA,NA,NA
chr3,31725562,31725562,C,T,R008_F,OSBPL10,Silent,NM_001174060,exon7,c.G1098A,p.E366E,SNP,SNVindel,exonic,OSBPL10,NA,synonymous SNV,"OSBPL10:NM_001174060:exon7:c.G1098A:p.E366E,OSBPL10:NM_017784:exon8:c.G1290A:p.E430E",NA,NA,NA,NA,NA,NA
chr3,105271343,105271343,A,G,R008_F,ALCAM,Silent,NM_001243280,exon13,c.A1539G,p.A513A,SNP,SNVindel,exonic,ALCAM,NA,synonymous SNV,"ALCAM:NM_001243280:exon13:c.A1539G:p.A513A,ALCAM:NM_001243281:exon14:c.A1578G:p.A526A,ALCAM:NM_001627:exon14:c.A1578G:p.A526A",NA,NA,NA,NA,NA,NA
chr3,169099228,169099228,A,C,R008_F,MECOM,Missense_Mutation,NM_001366466,exon2,c.T122G,p.L41R,SNP,SNVindel,exonic,MECOM,NA,nonsynonymous SNV,"MECOM:NM_001366466:exon2:c.T122G:p.L41R,MECOM:NM_001366473:exon2:c.T122G:p.L41R,MECOM:NM_004991:exon2:c.T122G:p.L41R",D,N,N,T,N,T
chr3,184099313,184099313,G,A,R008_F,CHRD,Missense_Mutation,NM_001304472,exon4,c.G412A,p.G138S,SNP,SNVindel,exonic,CHRD,NA,nonsynonymous SNV,"CHRD:NM_001304472:exon4:c.G412A:p.G138S,CHRD:NM_003741:exon4:c.G412A:p.G138S",T,N,N,T,N,T
chr4,77244505,77244505,C,T,R008_F,CCDC158,Missense_Mutation,NM_001042784,exon23,c.G3215A,p.R1072K,SNP,SNVindel,exonic,CCDC158,NA,nonsynonymous SNV,CCDC158:NM_001042784:exon23:c.G3215A:p.R1072K,T,D,N,T,N,T
chr4,91549300,91549300,G,T,R008_F,CCSER1,Missense_Mutation,NM_001145065,exon6,c.G1849T,p.D617Y,SNP,SNVindel,exonic,CCSER1,NA,nonsynonymous SNV,"CCSER1:NM_001145065:exon6:c.G1849T:p.D617Y,CCSER1:NM_207491:exon6:c.G1849T:p.D617Y",D,D,D,T,D,T
chr4,146072027,146072027,G,A,R008_F,OTUD4,Silent,NM_001102653,exon12,c.C804T,p.P268P,SNP,SNVindel,exonic,OTUD4,NA,synonymous SNV,"OTUD4:NM_001102653:exon12:c.C804T:p.P268P,OTUD4:NM_001366057:exon12:c.C999T:p.P333P",NA,NA,NA,NA,NA,NA
chr4,154523385,154523385,C,A,R008_F,TMEM131L,Nonsense_Mutation,NM_001131007,exon22,c.C2348A,p.S783X,SNP,SNVindel,exonic,TMEM131L,NA,stopgain,"TMEM131L:NM_001131007:exon22:c.C2348A:p.S783X,TMEM131L:NM_015196:exon22:c.C2345A:p.S782X",.,N,A,.,.,.
chr6,83861333,83861333,G,T,R008_F,DOP1A,Missense_Mutation,NM_001199942,exon28,c.G5832T,p.M1944I,SNP,SNVindel,exonic,DOP1A,NA,nonsynonymous SNV,"DOP1A:NM_001199942:exon28:c.G5832T:p.M1944I,DOP1A:NM_015018:exon28:c.G5859T:p.M1953I",T,D,N,T,N,T
chr7,1478611,1478611,G,A,R008_F,MICALL2,Missense_Mutation,NM_182924,exon10,c.C1987T,p.R663C,SNP,SNVindel,exonic,MICALL2,NA,nonsynonymous SNV,MICALL2:NM_182924:exon10:c.C1987T:p.R663C,D,N,N,T,N,T
chr7,7622969,7622969,C,A,R008_F,MIOS,Silent,NM_001370077,exon4,c.C1614A,p.I538I,SNP,SNVindel,exonic,MIOS,NA,synonymous SNV,"MIOS:NM_001370077:exon4:c.C1614A:p.I538I,MIOS:NM_001370078:exon4:c.C1614A:p.I538I,MIOS:NM_001370080:exon4:c.C1614A:p.I538I,MIOS:NM_001370076:exon5:c.C1614A:p.I538I,MIOS:NM_019005:exon6:c.C1614A:p.I538I",NA,NA,NA,NA,NA,NA
chr7,21646342,21646342,G,A,R008_F,DNAH11,Silent,NM_001277115,exon20,c.G3843A,p.A1281A,SNP,SNVindel,exonic,DNAH11,NA,synonymous SNV,DNAH11:NM_001277115:exon20:c.G3843A:p.A1281A,NA,NA,NA,NA,NA,NA
chr8,139732984,139732984,G,A,R008_F,COL22A1,Missense_Mutation,NM_152888,exon27,c.C2353T,p.R785W,SNP,SNVindel,exonic,COL22A1,NA,nonsynonymous SNV,COL22A1:NM_152888:exon27:c.C2353T:p.R785W,D,U,N,D,D,D
chr9,18929024,18929024,G,A,R008_F,SAXO1,Nonsense_Mutation,NM_001287049,exon4,c.C256T,p.R86X,SNP,SNVindel,exonic,SAXO1,NA,stopgain,"SAXO1:NM_001287049:exon4:c.C256T:p.R86X,SAXO1:NM_153707:exon4:c.C451T:p.R151X",.,D,D,.,.,.
chr9,125273917,125273917,G,A,R008_F,OR1J2,Silent,NM_054107,exon1,c.G837A,p.T279T,SNP,SNVindel,exonic,OR1J2,NA,synonymous SNV,OR1J2:NM_054107:exon1:c.G837A:p.T279T,NA,NA,NA,NA,NA,NA
chr9,139846865,139846865,C,G,R008_F,LCN12,Missense_Mutation,NM_178536,exon1,c.C86G,p.P29R,SNP,SNVindel,exonic,LCN12,NA,nonsynonymous SNV,LCN12:NM_178536:exon1:c.C86G:p.P29R,D,N,N,T,D,T
chr10,89624228,89624228,T,A,R008_F,PTEN,Translation_Start_Site,NM_000314,exon1,c.T2A,p.M1?,SNP,SNVindel,exonic,PTEN,NA,startloss,"PTEN:NM_000314:exon1:c.T2A:p.M1?,PTEN:NM_001304717:exon2:c.T521A:p.M174K",D,D,D,D,D,D
chr11,1249875,1249875,G,A,R008_F,MUC5B,Missense_Mutation,NM_002458,exon8,c.G856A,p.A286T,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon8:c.G856A:p.A286T,T,.,N,T,N,T
chr11,4976768,4976768,C,T,R008_F,OR51A2,Missense_Mutation,NM_001004748,exon1,c.G176A,p.G59E,SNP,SNVindel,exonic,OR51A2,NA,nonsynonymous SNV,OR51A2:NM_001004748:exon1:c.G176A:p.G59E,T,.,P,T,N,T
chr11,20636326,20636326,G,A,R008_F,SLC6A5,Missense_Mutation,NM_001318369,exon5,c.G385A,p.A129T,SNP,SNVindel,exonic,SLC6A5,NA,nonsynonymous SNV,"SLC6A5:NM_001318369:exon5:c.G385A:p.A129T,SLC6A5:NM_004211:exon6:c.G1087A:p.A363T",T,N,D,T,N,T
chr11,60567358,60567358,G,A,R008_F,MS4A10,Silent,NM_206893,exon8,c.G780A,p.A260A,SNP,SNVindel,exonic,MS4A10,NA,synonymous SNV,MS4A10:NM_206893:exon8:c.G780A:p.A260A,NA,NA,NA,NA,NA,NA
chr12,50232662,50232662,G,A,R008_F,BCDIN3D,Missense_Mutation,NM_181708,exon2,c.C371T,p.P124L,SNP,SNVindel,exonic,BCDIN3D,NA,nonsynonymous SNV,BCDIN3D:NM_181708:exon2:c.C371T:p.P124L,D,D,D,T,D,T
chr12,52307472,52307472,A,G,R008_F,ACVRL1,Missense_Mutation,NM_001077401,exon3,c.A443G,p.E148G,SNP,SNVindel,exonic,ACVRL1,NA,nonsynonymous SNV,"ACVRL1:NM_001077401:exon3:c.A443G:p.E148G,ACVRL1:NM_000020:exon4:c.A443G:p.E148G",T,N,D,D,N,T
chr12,52966433,52966433,G,T,R008_F,KRT74,Missense_Mutation,NM_175053,exon2,c.C490A,p.Q164K,SNP,SNVindel,exonic,KRT74,NA,nonsynonymous SNV,KRT74:NM_175053:exon2:c.C490A:p.Q164K,D,N,D,D,D,D
chr12,111652085,111652085,C,T,R008_F,CUX2,Missense_Mutation,NM_015267,exon2,c.C145T,p.R49C,SNP,SNVindel,exonic,CUX2,NA,nonsynonymous SNV,CUX2:NM_015267:exon2:c.C145T:p.R49C,D,D,D,T,N,T
chr14,75130641,75130641,G,A,R008_F,AREL1,Missense_Mutation,NM_001039479,exon19,c.C2330T,p.A777V,SNP,SNVindel,exonic,AREL1,NA,nonsynonymous SNV,AREL1:NM_001039479:exon19:c.C2330T:p.A777V,D,D,D,T,N,T
chr16,19236009,19236009,C,A,R008_F,SYT17,Silent,NM_001308157,exon7,c.C1065A,p.P355P,SNP,SNVindel,exonic,SYT17,NA,synonymous SNV,"SYT17:NM_001308157:exon7:c.C1065A:p.P355P,SYT17:NM_001330509:exon7:c.C894A:p.P298P,SYT17:NM_016524:exon7:c.C1077A:p.P359P",NA,NA,NA,NA,NA,NA
chr17,7578457,7578457,C,T,R008_F,TP53,Missense_Mutation,NM_001126115,exon1,c.G77A,p.R26H,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon1:c.G77A:p.R26H,TP53:NM_001126116:exon1:c.G77A:p.R26H,TP53:NM_001126117:exon1:c.G77A:p.R26H,TP53:NM_001126118:exon4:c.G356A:p.R119H,TP53:NM_000546:exon5:c.G473A:p.R158H,TP53:NM_001126112:exon5:c.G473A:p.R158H,TP53:NM_001126113:exon5:c.G473A:p.R158H,TP53:NM_001126114:exon5:c.G473A:p.R158H,TP53:NM_001276695:exon5:c.G356A:p.R119H,TP53:NM_001276696:exon5:c.G356A:p.R119H,TP53:NM_001276760:exon5:c.G356A:p.R119H,TP53:NM_001276761:exon5:c.G356A:p.R119H",D,D,D,D,D,D
chr17,39739850,39739850,G,A,R008_F,KRT14,Missense_Mutation,NM_000526,exon5,c.C1006T,p.R336C,SNP,SNVindel,exonic,KRT14,NA,nonsynonymous SNV,KRT14:NM_000526:exon5:c.C1006T:p.R336C,D,D,D,D,D,D
chr17,59668127,59668127,C,A,R008_F,NACA2,Missense_Mutation,NM_199290,exon1,c.G415T,p.A139S,SNP,SNVindel,exonic,NACA2,NA,nonsynonymous SNV,NACA2:NM_199290:exon1:c.G415T:p.A139S,D,U,D,T,D,T
chr18,21116752,21116752,C,T,R008_F,NPC1,Missense_Mutation,NM_000271,exon21,c.G3130A,p.V1044M,SNP,SNVindel,exonic,NPC1,NA,nonsynonymous SNV,NPC1:NM_000271:exon21:c.G3130A:p.V1044M,D,D,D,D,N,D
chr18,72775533,72775533,C,A,R008_F,ZNF407,Silent,NM_017757,exon8,c.C5856A,p.G1952G,SNP,SNVindel,exonic,ZNF407,NA,synonymous SNV,ZNF407:NM_017757:exon8:c.C5856A:p.G1952G,NA,NA,NA,NA,NA,NA
chr19,3905446,3905446,C,T,R008_F,ATCAY,Silent,NM_033064,exon4,c.C151T,p.L51L,SNP,SNVindel,exonic,ATCAY,NA,synonymous SNV,ATCAY:NM_033064:exon4:c.C151T:p.L51L,NA,NA,NA,NA,NA,NA
chr19,6495406,6495406,G,T,R008_F,TUBB4A,Silent,NM_001289130,exon4,c.C888A,p.I296I,SNP,SNVindel,exonic,TUBB4A,NA,synonymous SNV,"TUBB4A:NM_001289130:exon4:c.C888A:p.I296I,TUBB4A:NM_001289131:exon4:c.C888A:p.I296I,TUBB4A:NM_006087:exon4:c.C1104A:p.I368I,TUBB4A:NM_001289123:exon5:c.C1257A:p.I419I,TUBB4A:NM_001289127:exon5:c.C1239A:p.I413I,TUBB4A:NM_001289129:exon5:c.C1104A:p.I368I",NA,NA,NA,NA,NA,NA
chr19,14991342,14991342,C,A,R008_F,OR7A17,Missense_Mutation,NM_030901,exon1,c.G826T,p.V276L,SNP,SNVindel,exonic,OR7A17,NA,nonsynonymous SNV,OR7A17:NM_030901:exon1:c.G826T:p.V276L,T,N,N,T,N,T
chr19,17717036,17717036,C,T,R008_F,UNC13A,Missense_Mutation,NM_001080421,exon42,c.G4939A,p.G1647R,SNP,SNVindel,exonic,UNC13A,NA,nonsynonymous SNV,UNC13A:NM_001080421:exon42:c.G4939A:p.G1647R,D,U,D,T,D,T
chrX,103495349,103495349,T,G,R008_F,ESX1,Missense_Mutation,NM_153448,exon4,c.A781C,p.M261L,SNP,SNVindel,exonic,ESX1,NA,nonsynonymous SNV,ESX1:NM_153448:exon4:c.A781C:p.M261L,T,.,N,T,N,T
chrX,115590023,115590023,G,T,R008_F,SLC6A14,Nonsense_Mutation,NM_007231,exon14,c.G1831T,p.E611X,SNP,SNVindel,exonic,SLC6A14,NA,stopgain,SLC6A14:NM_007231:exon14:c.G1831T:p.E611X,.,D,D,.,.,.
chrX,153219998,153219998,G,A,R008_F,HCFC1,Silent,NM_005334,exon17,c.C3852T,p.T1284T,SNP,SNVindel,exonic,HCFC1,NA,synonymous SNV,HCFC1:NM_005334:exon17:c.C3852T:p.T1284T,NA,NA,NA,NA,NA,NA
chr1,1957115,1957115,C,T,R008_S,GABRD,Silent,NM_000815,exon4,c.C408T,p.D136D,SNP,SNVindel,exonic,GABRD,NA,synonymous SNV,GABRD:NM_000815:exon4:c.C408T:p.D136D,NA,NA,NA,NA,NA,NA
chr1,12337397,12337397,T,C,R008_S,VPS13D,Missense_Mutation,NM_015378,exon19,c.T3752C,p.I1251T,SNP,SNVindel,exonic,VPS13D,NA,nonsynonymous SNV,"VPS13D:NM_015378:exon19:c.T3752C:p.I1251T,VPS13D:NM_018156:exon19:c.T3752C:p.I1251T",.,D,N,.,.,T
chr1,24447782,24447782,T,C,R008_S,IL22RA1,Missense_Mutation,NM_021258,exon7,c.A1238G,p.D413G,SNP,SNVindel,exonic,IL22RA1,NA,nonsynonymous SNV,IL22RA1:NM_021258:exon7:c.A1238G:p.D413G,D,N,N,T,N,T
chr1,52499352,52499352,C,T,R008_S,KTI12,Missense_Mutation,NM_138417,exon1,c.G82A,p.E28K,SNP,SNVindel,exonic,KTI12,NA,nonsynonymous SNV,KTI12:NM_138417:exon1:c.G82A:p.E28K,T,U,D,T,N,T
chr1,152749091,152749091,C,T,R008_S,LCE1F,Missense_Mutation,NM_178354,exon1,c.C244T,p.R82W,SNP,SNVindel,exonic,LCE1F,NA,nonsynonymous SNV,LCE1F:NM_178354:exon1:c.C244T:p.R82W,.,.,P,T,D,T
chr1,185931778,185931778,G,A,R008_S,HMCN1,Missense_Mutation,NM_031935,exon12,c.G1957A,p.V653M,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon12:c.G1957A:p.V653M,T,N,N,T,N,T
chr1,186008945,186008945,T,C,R008_S,HMCN1,Silent,NM_031935,exon39,c.T6114C,p.I2038I,SNP,SNVindel,exonic,HMCN1,NA,synonymous SNV,HMCN1:NM_031935:exon39:c.T6114C:p.I2038I,NA,NA,NA,NA,NA,NA
chr1,247737608,247737608,C,A,R008_S,GCSAML,Missense_Mutation,NM_001281838,exon5,c.C236A,p.A79D,SNP,SNVindel,exonic,GCSAML,NA,nonsynonymous SNV,"GCSAML:NM_001281838:exon5:c.C236A:p.A79D,GCSAML:NM_145278:exon5:c.C332A:p.A111D,GCSAML:NM_001281835:exon6:c.C272A:p.A91D,GCSAML:NM_001281836:exon6:c.C236A:p.A79D,GCSAML:NM_001281837:exon6:c.C236A:p.A79D,GCSAML:NM_001281834:exon7:c.C272A:p.A91D,GCSAML:NM_001281853:exon7:c.C332A:p.A111D",D,N,N,.,D,T
chr2,39934238,39934238,T,C,R008_S,TMEM178A,Silent,NM_001167959,exon3,c.T18C,p.L6L,SNP,SNVindel,exonic,TMEM178A,NA,synonymous SNV,"TMEM178A:NM_001167959:exon3:c.T18C:p.L6L,TMEM178A:NM_152390:exon3:c.T564C:p.L188L",NA,NA,NA,NA,NA,NA
chr2,69092785,69092785,A,G,R008_S,BMP10,Missense_Mutation,NM_014482,exon2,c.T1253C,p.V418A,SNP,SNVindel,exonic,BMP10,NA,nonsynonymous SNV,BMP10:NM_014482:exon2:c.T1253C:p.V418A,D,D,D,D,D,D
chr2,86373288,86373288,T,C,R008_S,IMMT,Silent,NM_001100169,exon14,c.A1563G,p.L521L,SNP,SNVindel,exonic,IMMT,NA,synonymous SNV,"IMMT:NM_001100169:exon14:c.A1563G:p.L521L,IMMT:NM_001100170:exon14:c.A1533G:p.L511L,IMMT:NM_006839:exon14:c.A1566G:p.L522L",NA,NA,NA,NA,NA,NA
chr2,97350114,97350114,G,A,R008_S,FER1L5,Missense_Mutation,NM_001293083,exon20,c.G1720A,p.V574M,SNP,SNVindel,exonic,FER1L5,NA,nonsynonymous SNV,FER1L5:NM_001293083:exon20:c.G1720A:p.V574M,.,.,.,.,.,T
chr2,113832879,113832879,C,G,R008_S,IL1F10,Missense_Mutation,NM_032556,exon4,c.C397G,p.Q133E,SNP,SNVindel,exonic,IL1F10,NA,nonsynonymous SNV,"IL1F10:NM_032556:exon4:c.C397G:p.Q133E,IL1F10:NM_173161:exon5:c.C397G:p.Q133E",T,N,N,T,N,T
chr2,158412747,158412747,C,T,R008_S,ACVR1C,Nonsense_Mutation,NM_001111031,exon3,c.G252A,p.W84X,SNP,SNVindel,exonic,ACVR1C,NA,stopgain,"ACVR1C:NM_001111031:exon3:c.G252A:p.W84X,ACVR1C:NM_145259:exon3:c.G402A:p.W134X",.,N,A,.,.,.
chr2,169938144,169938144,G,A,R008_S,DHRS9,Missense_Mutation,NM_001142271,exon2,c.G53A,p.R18H,SNP,SNVindel,exonic,DHRS9,NA,nonsynonymous SNV,"DHRS9:NM_001142271:exon2:c.G53A:p.R18H,DHRS9:NM_001289763:exon2:c.G233A:p.R78H,DHRS9:NM_001142270:exon3:c.G53A:p.R18H,DHRS9:NM_199204:exon3:c.G53A:p.R18H",T,N,N,D,N,T
chr2,215846947,215846947,G,A,R008_S,ABCA12,Nonsense_Mutation,NM_015657,exon22,c.C3589T,p.R1197X,SNP,SNVindel,exonic,ABCA12,NA,stopgain,"ABCA12:NM_015657:exon22:c.C3589T:p.R1197X,ABCA12:NM_173076:exon30:c.C4543T:p.R1515X",.,N,A,.,.,.
chr2,239039959,239039959,C,T,R008_S,ESPNL,Silent,NM_001308370,exon4,c.C1500T,p.C500C,SNP,SNVindel,exonic,ESPNL,NA,synonymous SNV,"ESPNL:NM_001308370:exon4:c.C1500T:p.C500C,ESPNL:NM_194312:exon9:c.C2604T:p.C868C",NA,NA,NA,NA,NA,NA
chr3,31725562,31725562,C,T,R008_S,OSBPL10,Silent,NM_001174060,exon7,c.G1098A,p.E366E,SNP,SNVindel,exonic,OSBPL10,NA,synonymous SNV,"OSBPL10:NM_001174060:exon7:c.G1098A:p.E366E,OSBPL10:NM_017784:exon8:c.G1290A:p.E430E",NA,NA,NA,NA,NA,NA
chr3,51749759,51749759,T,C,R008_S,GRM2,Missense_Mutation,NM_001349116,exon3,c.T836C,p.I279T,SNP,SNVindel,exonic,GRM2,NA,nonsynonymous SNV,"GRM2:NM_001349116:exon3:c.T836C:p.I279T,GRM2:NM_000839:exon4:c.T1970C:p.I657T,GRM2:NM_001349117:exon5:c.T779C:p.I260T",D,D,D,D,D,D
chr3,62739420,62739420,C,T,R008_S,CADPS,Missense_Mutation,NM_003716,exon3,c.G584A,p.R195H,SNP,SNVindel,exonic,CADPS,NA,nonsynonymous SNV,"CADPS:NM_003716:exon3:c.G584A:p.R195H,CADPS:NM_183393:exon3:c.G584A:p.R195H,CADPS:NM_183394:exon3:c.G584A:p.R195H",T,D,D,D,D,D
chr3,101046530,101046530,A,G,R008_S,SENP7,Missense_Mutation,NM_001282803,exon20,c.T2503C,p.Y835H,SNP,SNVindel,exonic,SENP7,NA,nonsynonymous SNV,"SENP7:NM_001282803:exon20:c.T2503C:p.Y835H,SENP7:NM_001077203:exon22:c.T2800C:p.Y934H,SENP7:NM_001282801:exon22:c.T2797C:p.Y933H,SENP7:NM_001282802:exon22:c.T2896C:p.Y966H,SENP7:NM_020654:exon23:c.T2995C:p.Y999H",D,D,D,T,D,T
chr3,105271343,105271343,A,G,R008_S,ALCAM,Silent,NM_001243280,exon13,c.A1539G,p.A513A,SNP,SNVindel,exonic,ALCAM,NA,synonymous SNV,"ALCAM:NM_001243280:exon13:c.A1539G:p.A513A,ALCAM:NM_001243281:exon14:c.A1578G:p.A526A,ALCAM:NM_001627:exon14:c.A1578G:p.A526A",NA,NA,NA,NA,NA,NA
chr3,169099228,169099228,A,C,R008_S,MECOM,Missense_Mutation,NM_001366466,exon2,c.T122G,p.L41R,SNP,SNVindel,exonic,MECOM,NA,nonsynonymous SNV,"MECOM:NM_001366466:exon2:c.T122G:p.L41R,MECOM:NM_001366473:exon2:c.T122G:p.L41R,MECOM:NM_004991:exon2:c.T122G:p.L41R",D,N,N,T,N,T
chr3,184099313,184099313,G,A,R008_S,CHRD,Missense_Mutation,NM_001304472,exon4,c.G412A,p.G138S,SNP,SNVindel,exonic,CHRD,NA,nonsynonymous SNV,"CHRD:NM_001304472:exon4:c.G412A:p.G138S,CHRD:NM_003741:exon4:c.G412A:p.G138S",T,N,N,T,N,T
chr4,77244505,77244505,C,T,R008_S,CCDC158,Missense_Mutation,NM_001042784,exon23,c.G3215A,p.R1072K,SNP,SNVindel,exonic,CCDC158,NA,nonsynonymous SNV,CCDC158:NM_001042784:exon23:c.G3215A:p.R1072K,T,D,N,T,N,T
chr4,146072027,146072027,G,A,R008_S,OTUD4,Silent,NM_001102653,exon12,c.C804T,p.P268P,SNP,SNVindel,exonic,OTUD4,NA,synonymous SNV,"OTUD4:NM_001102653:exon12:c.C804T:p.P268P,OTUD4:NM_001366057:exon12:c.C999T:p.P333P",NA,NA,NA,NA,NA,NA
chr6,17640185,17640185,T,C,R008_S,NUP153,Missense_Mutation,NM_005124,exon15,c.A1831G,p.I611V,SNP,SNVindel,exonic,NUP153,NA,nonsynonymous SNV,"NUP153:NM_005124:exon15:c.A1831G:p.I611V,NUP153:NM_001278209:exon16:c.A1924G:p.I642V",T,N,D,T,N,T
chr7,1478611,1478611,G,A,R008_S,MICALL2,Missense_Mutation,NM_182924,exon10,c.C1987T,p.R663C,SNP,SNVindel,exonic,MICALL2,NA,nonsynonymous SNV,MICALL2:NM_182924:exon10:c.C1987T:p.R663C,D,N,N,T,N,T
chr7,1784268,1784268,C,T,R008_S,ELFN1,Silent,NM_001128636,exon3,c.C36T,p.C12C,SNP,SNVindel,exonic,ELFN1,NA,synonymous SNV,ELFN1:NM_001128636:exon3:c.C36T:p.C12C,NA,NA,NA,NA,NA,NA
chr7,7622969,7622969,C,A,R008_S,MIOS,Silent,NM_001370077,exon4,c.C1614A,p.I538I,SNP,SNVindel,exonic,MIOS,NA,synonymous SNV,"MIOS:NM_001370077:exon4:c.C1614A:p.I538I,MIOS:NM_001370078:exon4:c.C1614A:p.I538I,MIOS:NM_001370080:exon4:c.C1614A:p.I538I,MIOS:NM_001370076:exon5:c.C1614A:p.I538I,MIOS:NM_019005:exon6:c.C1614A:p.I538I",NA,NA,NA,NA,NA,NA
chr7,21646342,21646342,G,A,R008_S,DNAH11,Silent,NM_001277115,exon20,c.G3843A,p.A1281A,SNP,SNVindel,exonic,DNAH11,NA,synonymous SNV,DNAH11:NM_001277115:exon20:c.G3843A:p.A1281A,NA,NA,NA,NA,NA,NA
chr7,21942612,21942612,T,A,R008_S,CDCA7L,Nonsense_Mutation,NM_001127371,exon8,c.A1180T,p.K394X,SNP,SNVindel,exonic,CDCA7L,NA,stopgain,"CDCA7L:NM_001127371:exon8:c.A1180T:p.K394X,CDCA7L:NM_018719:exon9:c.A1318T:p.K440X,CDCA7L:NM_001127370:exon10:c.A1216T:p.K406X",.,D,D,.,.,.
chr7,141734564,141734564,G,A,R008_S,MGAM,Missense_Mutation,NM_001365693,exon16,c.G1882A,p.D628N,SNP,SNVindel,exonic,MGAM,NA,nonsynonymous SNV,"MGAM:NM_001365693:exon16:c.G1882A:p.D628N,MGAM:NM_004668:exon16:c.G1882A:p.D628N",D,D,D,D,D,D
chr8,3087632,3087632,T,C,R008_S,CSMD1,Silent,NM_033225,exon27,c.A4275G,p.G1425G,SNP,SNVindel,exonic,CSMD1,NA,synonymous SNV,CSMD1:NM_033225:exon27:c.A4275G:p.G1425G,NA,NA,NA,NA,NA,NA
chr8,139732984,139732984,G,A,R008_S,COL22A1,Missense_Mutation,NM_152888,exon27,c.C2353T,p.R785W,SNP,SNVindel,exonic,COL22A1,NA,nonsynonymous SNV,COL22A1:NM_152888:exon27:c.C2353T:p.R785W,D,U,N,D,D,D
chr9,18929024,18929024,G,A,R008_S,SAXO1,Nonsense_Mutation,NM_001287049,exon4,c.C256T,p.R86X,SNP,SNVindel,exonic,SAXO1,NA,stopgain,"SAXO1:NM_001287049:exon4:c.C256T:p.R86X,SAXO1:NM_153707:exon4:c.C451T:p.R151X",.,D,D,.,.,.
chr9,125273917,125273917,G,A,R008_S,OR1J2,Silent,NM_054107,exon1,c.G837A,p.T279T,SNP,SNVindel,exonic,OR1J2,NA,synonymous SNV,OR1J2:NM_054107:exon1:c.G837A:p.T279T,NA,NA,NA,NA,NA,NA
chr9,140509124,140509124,C,T,R008_S,ARRDC1,Silent,NM_001317968,exon7,c.C909T,p.A303A,SNP,SNVindel,exonic,ARRDC1,NA,synonymous SNV,"ARRDC1:NM_001317968:exon7:c.C909T:p.A303A,ARRDC1:NM_152285:exon7:c.C909T:p.A303A",NA,NA,NA,NA,NA,NA
chr10,93559,93559,A,G,R008_S,TUBB8,Missense_Mutation,NM_177987,exon4,c.T773C,p.V258A,SNP,SNVindel,exonic,TUBB8,NA,nonsynonymous SNV,TUBB8:NM_177987:exon4:c.T773C:p.V258A,D,U,D,D,D,D
chr10,89624228,89624228,T,A,R008_S,PTEN,Translation_Start_Site,NM_000314,exon1,c.T2A,p.M1?,SNP,SNVindel,exonic,PTEN,NA,startloss,"PTEN:NM_000314:exon1:c.T2A:p.M1?,PTEN:NM_001304717:exon2:c.T521A:p.M174K",D,D,D,D,D,D
chr11,1249875,1249875,G,A,R008_S,MUC5B,Missense_Mutation,NM_002458,exon8,c.G856A,p.A286T,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon8:c.G856A:p.A286T,T,.,N,T,N,T
chr11,1774801,1774801,C,T,R008_S,CTSD,Missense_Mutation,NM_001909,exon9,c.G1171A,p.G391S,SNP,SNVindel,exonic,CTSD,NA,nonsynonymous SNV,CTSD:NM_001909:exon9:c.G1171A:p.G391S,D,D,D,T,D,T
chr11,4976768,4976768,C,T,R008_S,OR51A2,Missense_Mutation,NM_001004748,exon1,c.G176A,p.G59E,SNP,SNVindel,exonic,OR51A2,NA,nonsynonymous SNV,OR51A2:NM_001004748:exon1:c.G176A:p.G59E,T,.,P,T,N,T
chr11,60567358,60567358,G,A,R008_S,MS4A10,Silent,NM_206893,exon8,c.G780A,p.A260A,SNP,SNVindel,exonic,MS4A10,NA,synonymous SNV,MS4A10:NM_206893:exon8:c.G780A:p.A260A,NA,NA,NA,NA,NA,NA
chr11,67433636,67433636,T,C,R008_S,ALDH3B2,Silent,NM_001031615,exon6,c.A276G,p.T92T,SNP,SNVindel,exonic,ALDH3B2,NA,synonymous SNV,"ALDH3B2:NM_001031615:exon6:c.A276G:p.T92T,ALDH3B2:NM_001354345:exon7:c.A276G:p.T92T",NA,NA,NA,NA,NA,NA
chr11,121016428,121016428,C,T,R008_S,TECTA,Silent,NM_005422,exon11,c.C3708T,p.S1236S,SNP,SNVindel,exonic,TECTA,NA,synonymous SNV,TECTA:NM_005422:exon11:c.C3708T:p.S1236S,NA,NA,NA,NA,NA,NA
chr11,121016430,121016430,C,T,R008_S,TECTA,Missense_Mutation,NM_005422,exon11,c.C3710T,p.T1237I,SNP,SNVindel,exonic,TECTA,NA,nonsynonymous SNV,TECTA:NM_005422:exon11:c.C3710T:p.T1237I,T,D,D,T,N,T
chr12,15673228,15673228,A,G,R008_S,PTPRO,Missense_Mutation,NM_002848,exon10,c.A1873G,p.T625A,SNP,SNVindel,exonic,PTPRO,NA,nonsynonymous SNV,"PTPRO:NM_002848:exon10:c.A1873G:p.T625A,PTPRO:NM_030667:exon10:c.A1873G:p.T625A",T,D,D,T,N,T
chr12,50232662,50232662,G,A,R008_S,BCDIN3D,Missense_Mutation,NM_181708,exon2,c.C371T,p.P124L,SNP,SNVindel,exonic,BCDIN3D,NA,nonsynonymous SNV,BCDIN3D:NM_181708:exon2:c.C371T:p.P124L,D,D,D,T,D,T
chr12,52307472,52307472,A,G,R008_S,ACVRL1,Missense_Mutation,NM_001077401,exon3,c.A443G,p.E148G,SNP,SNVindel,exonic,ACVRL1,NA,nonsynonymous SNV,"ACVRL1:NM_001077401:exon3:c.A443G:p.E148G,ACVRL1:NM_000020:exon4:c.A443G:p.E148G",T,N,D,D,N,T
chr12,111652085,111652085,C,T,R008_S,CUX2,Missense_Mutation,NM_015267,exon2,c.C145T,p.R49C,SNP,SNVindel,exonic,CUX2,NA,nonsynonymous SNV,CUX2:NM_015267:exon2:c.C145T:p.R49C,D,D,D,T,N,T
chr13,41705304,41705304,T,C,R008_S,KBTBD6,Silent,NM_152903,exon1,c.A1344G,p.G448G,SNP,SNVindel,exonic,KBTBD6,NA,synonymous SNV,KBTBD6:NM_152903:exon1:c.A1344G:p.G448G,NA,NA,NA,NA,NA,NA
chr14,24631487,24631487,C,T,R008_S,IRF9,Missense_Mutation,NM_006084,exon2,c.C134T,p.A45V,SNP,SNVindel,exonic,IRF9,NA,nonsynonymous SNV,IRF9:NM_006084:exon2:c.C134T:p.A45V,D,U,D,D,D,D
chr14,63860637,63860637,A,G,R008_S,PPP2R5E,Silent,NM_001282181,exon7,c.T522C,p.N174N,SNP,SNVindel,exonic,PPP2R5E,NA,synonymous SNV,"PPP2R5E:NM_001282181:exon7:c.T522C:p.N174N,PPP2R5E:NM_001282182:exon7:c.T522C:p.N174N,PPP2R5E:NM_001282179:exon8:c.T750C:p.N250N,PPP2R5E:NM_001282180:exon8:c.T750C:p.N250N,PPP2R5E:NM_006246:exon8:c.T750C:p.N250N",NA,NA,NA,NA,NA,NA
chr14,94849027,94849027,T,C,R008_S,SERPINA1,Missense_Mutation,NM_000295,exon2,c.A548G,p.D183G,SNP,SNVindel,exonic,SERPINA1,NA,nonsynonymous SNV,"SERPINA1:NM_000295:exon2:c.A548G:p.D183G,SERPINA1:NM_001002235:exon2:c.A548G:p.D183G,SERPINA1:NM_001127700:exon2:c.A548G:p.D183G,SERPINA1:NM_001127702:exon3:c.A548G:p.D183G,SERPINA1:NM_001127706:exon3:c.A548G:p.D183G,SERPINA1:NM_001127707:exon3:c.A548G:p.D183G,SERPINA1:NM_001002236:exon4:c.A548G:p.D183G,SERPINA1:NM_001127701:exon4:c.A548G:p.D183G,SERPINA1:NM_001127703:exon4:c.A548G:p.D183G,SERPINA1:NM_001127704:exon4:c.A548G:p.D183G,SERPINA1:NM_001127705:exon4:c.A548G:p.D183G",D,N,N,D,D,T
chr15,78786499,78786499,G,A,R008_S,IREB2,Missense_Mutation,NM_001320941,exon19,c.G1738A,p.A580T,SNP,SNVindel,exonic,IREB2,NA,nonsynonymous SNV,"IREB2:NM_001320941:exon19:c.G1738A:p.A580T,IREB2:NM_001320942:exon20:c.G2317A:p.A773T,IREB2:NM_001354994:exon20:c.G2317A:p.A773T,IREB2:NM_004136:exon20:c.G2488A:p.A830T",D,D,D,T,D,T
chr16,19236009,19236009,C,A,R008_S,SYT17,Silent,NM_001308157,exon7,c.C1065A,p.P355P,SNP,SNVindel,exonic,SYT17,NA,synonymous SNV,"SYT17:NM_001308157:exon7:c.C1065A:p.P355P,SYT17:NM_001330509:exon7:c.C894A:p.P298P,SYT17:NM_016524:exon7:c.C1077A:p.P359P",NA,NA,NA,NA,NA,NA
chr17,7578457,7578457,C,T,R008_S,TP53,Missense_Mutation,NM_001126115,exon1,c.G77A,p.R26H,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon1:c.G77A:p.R26H,TP53:NM_001126116:exon1:c.G77A:p.R26H,TP53:NM_001126117:exon1:c.G77A:p.R26H,TP53:NM_001126118:exon4:c.G356A:p.R119H,TP53:NM_000546:exon5:c.G473A:p.R158H,TP53:NM_001126112:exon5:c.G473A:p.R158H,TP53:NM_001126113:exon5:c.G473A:p.R158H,TP53:NM_001126114:exon5:c.G473A:p.R158H,TP53:NM_001276695:exon5:c.G356A:p.R119H,TP53:NM_001276696:exon5:c.G356A:p.R119H,TP53:NM_001276760:exon5:c.G356A:p.R119H,TP53:NM_001276761:exon5:c.G356A:p.R119H",D,D,D,D,D,D
chr17,10298509,10298509,C,A,R008_S,MYH8,Missense_Mutation,NM_002472,exon34,c.G4903T,p.A1635S,SNP,SNVindel,exonic,MYH8,NA,nonsynonymous SNV,MYH8:NM_002472:exon34:c.G4903T:p.A1635S,T,U,D,T,N,T
chr17,15848724,15848724,G,T,R008_S,ADORA2B,Silent,NM_000676,exon1,c.G162T,p.V54V,SNP,SNVindel,exonic,ADORA2B,NA,synonymous SNV,ADORA2B:NM_000676:exon1:c.G162T:p.V54V,NA,NA,NA,NA,NA,NA
chr17,39739850,39739850,G,A,R008_S,KRT14,Missense_Mutation,NM_000526,exon5,c.C1006T,p.R336C,SNP,SNVindel,exonic,KRT14,NA,nonsynonymous SNV,KRT14:NM_000526:exon5:c.C1006T:p.R336C,D,D,D,D,D,D
chr18,21116752,21116752,C,T,R008_S,NPC1,Missense_Mutation,NM_000271,exon21,c.G3130A,p.V1044M,SNP,SNVindel,exonic,NPC1,NA,nonsynonymous SNV,NPC1:NM_000271:exon21:c.G3130A:p.V1044M,D,D,D,D,N,D
chr19,3905446,3905446,C,T,R008_S,ATCAY,Silent,NM_033064,exon4,c.C151T,p.L51L,SNP,SNVindel,exonic,ATCAY,NA,synonymous SNV,ATCAY:NM_033064:exon4:c.C151T:p.L51L,NA,NA,NA,NA,NA,NA
chr19,17397485,17397485,G,T,R008_S,ANKLE1,Silent,NM_001278444,exon8,c.G1755T,p.V585V,SNP,SNVindel,exonic,ANKLE1,NA,synonymous SNV,ANKLE1:NM_001278444:exon8:c.G1755T:p.V585V,NA,NA,NA,NA,NA,NA
chr19,49812593,49812593,C,T,R008_S,SLC6A16,Missense_Mutation,NM_014037,exon6,c.G952A,p.A318T,SNP,SNVindel,exonic,SLC6A16,NA,nonsynonymous SNV,SLC6A16:NM_014037:exon6:c.G952A:p.A318T,T,N,N,T,D,T
chr19,56313028,56313028,A,T,R008_S,NLRP11,Missense_Mutation,NM_001297743,exon4,c.T1784A,p.L595Q,SNP,SNVindel,exonic,NLRP11,NA,nonsynonymous SNV,"NLRP11:NM_001297743:exon4:c.T1784A:p.L595Q,NLRP11:NM_145007:exon7:c.T2081A:p.L694Q",.,.,N,T,.,T
chr19,58868270,58868270,C,T,R008_S,ZNF497,Silent,NM_001207009,exon2,c.G732A,p.R244R,SNP,SNVindel,exonic,ZNF497,NA,synonymous SNV,"ZNF497:NM_001207009:exon2:c.G732A:p.R244R,ZNF497:NM_198458:exon3:c.G732A:p.R244R",NA,NA,NA,NA,NA,NA
chr22,43575657,43575657,A,C,R008_S,TTLL12,Missense_Mutation,NM_015140,exon5,c.T808G,p.C270G,SNP,SNVindel,exonic,TTLL12,NA,nonsynonymous SNV,TTLL12:NM_015140:exon5:c.T808G:p.C270G,T,N,N,T,N,T
chr22,46671278,46671278,C,T,R008_S,TTC38,Nonsense_Mutation,NM_017931,exon5,c.C499T,p.R167X,SNP,SNVindel,exonic,TTC38,NA,stopgain,TTC38:NM_017931:exon5:c.C499T:p.R167X,.,D,A,.,.,.
chrX,46359995,46359995,C,A,R008_S,ZNF674,Silent,NM_001039891,exon6,c.G1029T,p.T343T,SNP,SNVindel,exonic,ZNF674,NA,synonymous SNV,"ZNF674:NM_001039891:exon6:c.G1029T:p.T343T,ZNF674:NM_001146291:exon6:c.G1011T:p.T337T,ZNF674:NM_001190417:exon6:c.G1014T:p.T338T",NA,NA,NA,NA,NA,NA
chrX,55033715,55033715,C,G,R008_S,APEX2,Silent,NM_001271748,exon5,c.C891G,p.L297L,SNP,SNVindel,exonic,APEX2,NA,synonymous SNV,"APEX2:NM_001271748:exon5:c.C891G:p.L297L,APEX2:NM_014481:exon6:c.C1404G:p.L468L",NA,NA,NA,NA,NA,NA
chrX,103495349,103495349,T,G,R008_S,ESX1,Missense_Mutation,NM_153448,exon4,c.A781C,p.M261L,SNP,SNVindel,exonic,ESX1,NA,nonsynonymous SNV,ESX1:NM_153448:exon4:c.A781C:p.M261L,T,.,N,T,N,T
chrX,115590023,115590023,G,T,R008_S,SLC6A14,Nonsense_Mutation,NM_007231,exon14,c.G1831T,p.E611X,SNP,SNVindel,exonic,SLC6A14,NA,stopgain,SLC6A14:NM_007231:exon14:c.G1831T:p.E611X,.,D,D,.,.,.
chrX,153219998,153219998,G,A,R008_S,HCFC1,Silent,NM_005334,exon17,c.C3852T,p.T1284T,SNP,SNVindel,exonic,HCFC1,NA,synonymous SNV,HCFC1:NM_005334:exon17:c.C3852T:p.T1284T,NA,NA,NA,NA,NA,NA
chr1,74507071,74507071,C,T,R009_F,LRRIQ3,Missense_Mutation,NM_001105659,exon7,c.G1544A,p.R515H,SNP,SNVindel,exonic,LRRIQ3,NA,nonsynonymous SNV,LRRIQ3:NM_001105659:exon7:c.G1544A:p.R515H,T,.,N,T,N,T
chr1,155582933,155582933,A,T,R009_F,MSTO1,Missense_Mutation,NM_001256532,exon11,c.A1192T,p.T398S,SNP,SNVindel,exonic,MSTO1,NA,nonsynonymous SNV,"MSTO1:NM_001256532:exon11:c.A1192T:p.T398S,MSTO1:NM_001256533:exon11:c.A1192T:p.T398S,MSTO1:NM_001350772:exon11:c.A1192T:p.T398S,MSTO1:NM_001350773:exon11:c.A1192T:p.T398S,MSTO1:NM_001350774:exon11:c.A1192T:p.T398S,MSTO1:NM_001350775:exon11:c.A1192T:p.T398S,MSTO1:NM_001350776:exon11:c.A1027T:p.T343S,MSTO1:NM_001350777:exon11:c.A661T:p.T221S,MSTO1:NM_001350778:exon11:c.A661T:p.T221S,MSTO1:NM_001350779:exon11:c.A661T:p.T221S,MSTO1:NM_001350780:exon11:c.A658T:p.T220S,MSTO1:NM_001350781:exon11:c.A658T:p.T220S,MSTO1:NM_001350782:exon11:c.A658T:p.T220S,MSTO1:NM_001350783:exon11:c.A658T:p.T220S,MSTO1:NM_001350784:exon11:c.A649T:p.T217S,MSTO1:NM_001350785:exon11:c.A649T:p.T217S,MSTO1:NM_001350786:exon11:c.A658T:p.T220S,MSTO1:NM_001350787:exon11:c.A649T:p.T217S,MSTO1:NM_001350788:exon11:c.A658T:p.T220S,MSTO1:NM_001350789:exon11:c.A649T:p.T217S,MSTO1:NM_018116:exon11:c.A1192T:p.T398S",T,D,D,T,N,T
chr1,214557933,214557933,C,T,R009_F,PTPN14,Missense_Mutation,NM_005401,exon13,c.G1265A,p.R422Q,SNP,SNVindel,exonic,PTPN14,NA,nonsynonymous SNV,PTPN14:NM_005401:exon13:c.G1265A:p.R422Q,D,D,D,T,D,D
chr1,248604465,248604465,C,T,R009_F,OR2T7,Silent,NM_001355223,exon1,c.C48T,p.F16F,SNP,SNVindel,exonic,OR2T7,NA,synonymous SNV,OR2T7:NM_001355223:exon1:c.C48T:p.F16F,NA,NA,NA,NA,NA,NA
chr1,248813271,248813271,C,A,R009_F,OR2T27,Silent,NM_001001824,exon1,c.G915T,p.V305V,SNP,SNVindel,exonic,OR2T27,NA,synonymous SNV,OR2T27:NM_001001824:exon1:c.G915T:p.V305V,NA,NA,NA,NA,NA,NA
chr2,178681634,178681634,A,G,R009_F,PDE11A,Silent,NM_001077196,exon6,c.T327C,p.F109F,SNP,SNVindel,exonic,PDE11A,NA,synonymous SNV,"PDE11A:NM_001077196:exon6:c.T327C:p.F109F,PDE11A:NM_001077358:exon8:c.T585C:p.F195F,PDE11A:NM_016953:exon9:c.T1659C:p.F553F,PDE11A:NM_001077197:exon10:c.T909C:p.F303F",NA,NA,NA,NA,NA,NA
chr2,209113112,209113112,C,T,R009_F,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,234847686,234847686,G,T,R009_F,TRPM8,Missense_Mutation,NM_024080,exon5,c.G393T,p.E131D,SNP,SNVindel,exonic,TRPM8,NA,nonsynonymous SNV,TRPM8:NM_024080:exon5:c.G393T:p.E131D,T,D,D,T,N,T
chr3,49721561,49721561,A,C,R009_F,MST1,Missense_Mutation,NM_020998,exon18,c.T2078G,p.I693R,SNP,SNVindel,exonic,MST1,NA,nonsynonymous SNV,MST1:NM_020998:exon18:c.T2078G:p.I693R,D,D,D,D,D,T
chr3,108773716,108773716,C,T,R009_F,MORC1,Missense_Mutation,NM_014429,exon14,c.G1189A,p.V397M,SNP,SNVindel,exonic,MORC1,NA,nonsynonymous SNV,MORC1:NM_014429:exon14:c.G1189A:p.V397M,D,N,D,T,D,T
chr3,127334723,127334723,C,T,R009_F,MCM2,Missense_Mutation,NM_004526,exon9,c.C1447T,p.P483S,SNP,SNVindel,exonic,MCM2,NA,nonsynonymous SNV,MCM2:NM_004526:exon9:c.C1447T:p.P483S,D,D,D,T,D,T
chr3,127334738,127334738,C,T,R009_F,MCM2,Missense_Mutation,NM_004526,exon9,c.C1462T,p.H488Y,SNP,SNVindel,exonic,MCM2,NA,nonsynonymous SNV,MCM2:NM_004526:exon9:c.C1462T:p.H488Y,D,D,D,T,D,T
chr3,148919971,148919971,C,T,R009_F,CP,Silent,NM_000096,exon7,c.G1266A,p.K422K,SNP,SNVindel,exonic,CP,NA,synonymous SNV,CP:NM_000096:exon7:c.G1266A:p.K422K,NA,NA,NA,NA,NA,NA
chr4,41945816,41945816,G,C,R009_F,TMEM33,Silent,NM_018126,exon4,c.G381C,p.T127T,SNP,SNVindel,exonic,TMEM33,NA,synonymous SNV,TMEM33:NM_018126:exon4:c.G381C:p.T127T,NA,NA,NA,NA,NA,NA
chr5,39383169,39383169,C,T,R009_F,DAB2,Missense_Mutation,NM_001244871,exon9,c.G829A,p.D277N,SNP,SNVindel,exonic,DAB2,NA,nonsynonymous SNV,"DAB2:NM_001244871:exon9:c.G829A:p.D277N,DAB2:NM_001343:exon10:c.G892A:p.D298N",D,D,D,T,N,T
chr5,78376610,78376610,A,C,R009_F,BHMT2,Missense_Mutation,NM_017614,exon4,c.A359C,p.K120T,SNP,SNVindel,exonic,BHMT2,NA,nonsynonymous SNV,BHMT2:NM_017614:exon4:c.A359C:p.K120T,T,N,D,T,N,T
chr5,154393886,154393886,G,A,R009_F,KIF4B,Missense_Mutation,NM_001099293,exon1,c.G467A,p.R156H,SNP,SNVindel,exonic,KIF4B,NA,nonsynonymous SNV,KIF4B:NM_001099293:exon1:c.G467A:p.R156H,D,.,D,T,D,T
chr6,49485205,49485205,G,T,R009_F,GLYATL3,Missense_Mutation,NM_001010904,exon4,c.G249T,p.R83S,SNP,SNVindel,exonic,GLYATL3,NA,nonsynonymous SNV,GLYATL3:NM_001010904:exon4:c.G249T:p.R83S,T,.,N,T,N,T
chr6,74528193,74528193,T,C,R009_F,CD109,Missense_Mutation,NM_001159588,exon30,c.T3763C,p.S1255P,SNP,SNVindel,exonic,CD109,NA,nonsynonymous SNV,"CD109:NM_001159588:exon30:c.T3763C:p.S1255P,CD109:NM_001159587:exon31:c.T3943C:p.S1315P,CD109:NM_133493:exon31:c.T3994C:p.S1332P",T,N,N,T,N,T
chr6,116937975,116937975,G,C,R009_F,RSPH4A,Silent,NM_001010892,exon1,c.G189C,p.P63P,SNP,SNVindel,exonic,RSPH4A,NA,synonymous SNV,"RSPH4A:NM_001010892:exon1:c.G189C:p.P63P,RSPH4A:NM_001161664:exon1:c.G189C:p.P63P",NA,NA,NA,NA,NA,NA
chr7,4900479,4900479,G,A,R009_F,PAPOLB,Silent,NM_020144,exon1,c.C963T,p.Y321Y,SNP,SNVindel,exonic,PAPOLB,NA,synonymous SNV,PAPOLB:NM_020144:exon1:c.C963T:p.Y321Y,NA,NA,NA,NA,NA,NA
chr7,11676413,11676413,G,A,R009_F,THSD7A,Silent,NM_015204,exon2,c.C366T,p.Y122Y,SNP,SNVindel,exonic,THSD7A,NA,synonymous SNV,THSD7A:NM_015204:exon2:c.C366T:p.Y122Y,NA,NA,NA,NA,NA,NA
chr7,21628900,21628900,A,G,R009_F,DNAH11,Missense_Mutation,NM_001277115,exon12,c.A2048G,p.E683G,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon12:c.A2048G:p.E683G,T,N,N,T,D,T
chr7,82784891,82784891,G,T,R009_F,PCLO,Missense_Mutation,NM_014510,exon2,c.C1066A,p.P356T,SNP,SNVindel,exonic,PCLO,NA,nonsynonymous SNV,"PCLO:NM_014510:exon2:c.C1066A:p.P356T,PCLO:NM_033026:exon2:c.C1066A:p.P356T",T,.,N,T,N,T
chr7,95665055,95665055,G,A,R009_F,DYNC1I1,Missense_Mutation,NM_001135557,exon12,c.G1295A,p.R432H,SNP,SNVindel,exonic,DYNC1I1,NA,nonsynonymous SNV,"DYNC1I1:NM_001135557:exon12:c.G1295A:p.R432H,DYNC1I1:NM_001278421:exon12:c.G1346A:p.R449H,DYNC1I1:NM_001278422:exon12:c.G1295A:p.R432H,DYNC1I1:NM_001135556:exon13:c.G1355A:p.R452H,DYNC1I1:NM_004411:exon13:c.G1406A:p.R469H",D,D,D,T,D,T
chr7,107569607,107569607,C,T,R009_F,LAMB1,Missense_Mutation,NM_002291,exon31,c.G4789A,p.E1597K,SNP,SNVindel,exonic,LAMB1,NA,nonsynonymous SNV,LAMB1:NM_002291:exon31:c.G4789A:p.E1597K,T,.,D,T,N,T
chr7,142622671,142622671,G,A,R009_F,TRPV5,Missense_Mutation,NM_019841,exon8,c.C1075T,p.R359C,SNP,SNVindel,exonic,TRPV5,NA,nonsynonymous SNV,TRPV5:NM_019841:exon8:c.C1075T:p.R359C,T,N,D,D,N,T
chr7,156754935,156754935,A,G,R009_F,NOM1,Missense_Mutation,NM_001353366,exon5,c.A1726G,p.R576G,SNP,SNVindel,exonic,NOM1,NA,nonsynonymous SNV,"NOM1:NM_001353366:exon5:c.A1726G:p.R576G,NOM1:NM_138400:exon5:c.A1723G:p.R575G",D,U,D,T,D,T
chr8,14412341,14412341,C,T,R009_F,SGCZ,Missense_Mutation,NM_001322879,exon2,c.G134A,p.R45Q,SNP,SNVindel,exonic,SGCZ,NA,nonsynonymous SNV,"SGCZ:NM_001322879:exon2:c.G134A:p.R45Q,SGCZ:NM_001322880:exon2:c.G134A:p.R45Q,SGCZ:NM_139167:exon2:c.G134A:p.R45Q",D,D,D,D,D,D
chr8,55539972,55539972,A,G,R009_F,RP1,Missense_Mutation,NM_006269,exon4,c.A3530G,p.D1177G,SNP,SNVindel,exonic,RP1,NA,nonsynonymous SNV,RP1:NM_006269:exon4:c.A3530G:p.D1177G,D,D,D,T,D,T
chr9,79931303,79931303,G,C,R009_F,VPS13A,Missense_Mutation,NM_001018037,exon38,c.G4727C,p.R1576T,SNP,SNVindel,exonic,VPS13A,NA,nonsynonymous SNV,"VPS13A:NM_001018037:exon38:c.G4727C:p.R1576T,VPS13A:NM_001018038:exon39:c.G4844C:p.R1615T,VPS13A:NM_015186:exon39:c.G4844C:p.R1615T,VPS13A:NM_033305:exon39:c.G4844C:p.R1615T",D,D,D,T,D,T
chr9,114132806,114132806,A,T,R009_F,ECPAS,Missense_Mutation,NM_001363756,exon44,c.T4883A,p.V1628E,SNP,SNVindel,exonic,ECPAS,NA,nonsynonymous SNV,"ECPAS:NM_001363756:exon44:c.T4883A:p.V1628E,ECPAS:NM_001364931:exon44:c.T4901A:p.V1634E,ECPAS:NM_001364929:exon45:c.T4883A:p.V1628E,ECPAS:NM_001364930:exon45:c.T4883A:p.V1628E",T,D,D,T,N,T
chr9,137775200,137775200,C,T,R009_F,FCN2,Silent,NM_015837,exon2,c.C153T,p.N51N,SNP,SNVindel,exonic,FCN2,NA,synonymous SNV,"FCN2:NM_015837:exon2:c.C153T:p.N51N,FCN2:NM_004108:exon3:c.C267T:p.N89N",NA,NA,NA,NA,NA,NA
chr11,56258358,56258358,G,T,R009_F,OR5M8,Nonsense_Mutation,NM_001005282,exon1,c.C489A,p.Y163X,SNP,SNVindel,exonic,OR5M8,NA,stopgain,OR5M8:NM_001005282:exon1:c.C489A:p.Y163X,.,N,D,.,.,.
chr11,78239928,78239928,A,C,R009_F,NARS2,Missense_Mutation,NM_024678,exon6,c.T649G,p.L217V,SNP,SNVindel,exonic,NARS2,NA,nonsynonymous SNV,NARS2:NM_024678:exon6:c.T649G:p.L217V,D,D,D,D,D,D
chr12,22069947,22069947,C,A,R009_F,ABCC9,Missense_Mutation,NM_005691,exon4,c.G497T,p.R166L,SNP,SNVindel,exonic,ABCC9,NA,nonsynonymous SNV,"ABCC9:NM_005691:exon4:c.G497T:p.R166L,ABCC9:NM_020297:exon4:c.G497T:p.R166L",D,D,D,D,D,D
chr12,26808780,26808780,T,A,R009_F,ITPR2,Missense_Mutation,NM_002223,exon20,c.A2450T,p.D817V,SNP,SNVindel,exonic,ITPR2,NA,nonsynonymous SNV,ITPR2:NM_002223:exon20:c.A2450T:p.D817V,D,N,D,D,D,D
chr12,52843379,52843379,G,A,R009_F,KRT6B,Silent,NM_005555,exon5,c.C951T,p.S317S,SNP,SNVindel,exonic,KRT6B,NA,synonymous SNV,KRT6B:NM_005555:exon5:c.C951T:p.S317S,NA,NA,NA,NA,NA,NA
chr12,132241091,132241091,C,T,R009_F,SFSWAP,Missense_Mutation,NM_001261411,exon11,c.C1622T,p.A541V,SNP,SNVindel,exonic,SFSWAP,NA,nonsynonymous SNV,"SFSWAP:NM_001261411:exon11:c.C1622T:p.A541V,SFSWAP:NM_004592:exon11:c.C1622T:p.A541V",T,N,N,T,N,T
chr14,20502812,20502812,C,A,R009_F,OR4K13,Missense_Mutation,NM_001004714,exon1,c.G106T,p.V36L,SNP,SNVindel,exonic,OR4K13,NA,nonsynonymous SNV,OR4K13:NM_001004714:exon1:c.G106T:p.V36L,T,U,N,T,N,T
chr14,54903149,54903149,C,T,R009_F,CNIH1,Missense_Mutation,NM_005776,exon2,c.G88A,p.A30T,SNP,SNVindel,exonic,CNIH1,NA,nonsynonymous SNV,CNIH1:NM_005776:exon2:c.G88A:p.A30T,T,D,D,T,N,T
chr14,91739046,91739046,C,T,R009_F,CCDC88C,Missense_Mutation,NM_001080414,exon30,c.G6010A,p.V2004I,SNP,SNVindel,exonic,CCDC88C,NA,nonsynonymous SNV,CCDC88C:NM_001080414:exon30:c.G6010A:p.V2004I,T,N,N,T,N,T
chr14,102453851,102453851,G,A,R009_F,DYNC1H1,Missense_Mutation,NM_001376,exon9,c.G2600A,p.C867Y,SNP,SNVindel,exonic,DYNC1H1,NA,nonsynonymous SNV,DYNC1H1:NM_001376:exon9:c.G2600A:p.C867Y,D,D,D,T,D,T
chr15,22382849,22382849,T,A,R009_F,LOC105369274,Missense_Mutation,NM_001005241,exon1,c.T377A,p.I126N,SNP,SNVindel,exonic,LOC105369274;OR4N4,NA,nonsynonymous SNV,"OR4N4:NM_001005241:exon1:c.T377A:p.I126N,LOC105369274:NM_001365389:exon2:c.T428A:p.I143N",D,D,D,T,D,D
chr15,43819231,43819231,C,T,R009_F,MAP1A,Missense_Mutation,NM_002373,exon4,c.C5560T,p.P1854S,SNP,SNVindel,exonic,MAP1A,NA,nonsynonymous SNV,MAP1A:NM_002373:exon4:c.C5560T:p.P1854S,D,N,D,T,N,T
chr15,79284113,79284113,G,A,R009_F,RASGRF1,Silent,NM_153815,exon8,c.C747T,p.P249P,SNP,SNVindel,exonic,RASGRF1,NA,synonymous SNV,"RASGRF1:NM_153815:exon8:c.C747T:p.P249P,RASGRF1:NM_001145648:exon21:c.C3051T:p.P1017P,RASGRF1:NM_002891:exon22:c.C3099T:p.P1033P",NA,NA,NA,NA,NA,NA
chr16,4786527,4786527,C,T,R009_F,C16orf71,Silent,NM_139170,exon2,c.C12T,p.N4N,SNP,SNVindel,exonic,C16orf71,NA,synonymous SNV,C16orf71:NM_139170:exon2:c.C12T:p.N4N,NA,NA,NA,NA,NA,NA
chr16,69951736,69951736,A,G,R009_F,WWP2,Missense_Mutation,NM_001270453,exon7,c.A781G,p.N261D,SNP,SNVindel,exonic,WWP2,NA,nonsynonymous SNV,"WWP2:NM_001270453:exon7:c.A781G:p.N261D,WWP2:NM_001270454:exon10:c.A1129G:p.N377D,WWP2:NM_007014:exon11:c.A1129G:p.N377D",T,D,D,T,N,T
chr16,75140434,75140434,C,G,R009_F,ZNRF1,Missense_Mutation,NM_032268,exon4,c.C681G,p.D227E,SNP,SNVindel,exonic,ZNRF1,NA,nonsynonymous SNV,ZNRF1:NM_032268:exon4:c.C681G:p.D227E,D,D,D,.,D,T
chr17,7578271,7578271,T,C,R009_F,TP53,Missense_Mutation,NM_001126115,exon2,c.A182G,p.H61R,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon2:c.A182G:p.H61R,TP53:NM_001126116:exon2:c.A182G:p.H61R,TP53:NM_001126117:exon2:c.A182G:p.H61R,TP53:NM_001276697:exon2:c.A101G:p.H34R,TP53:NM_001276698:exon2:c.A101G:p.H34R,TP53:NM_001276699:exon2:c.A101G:p.H34R,TP53:NM_001126118:exon5:c.A461G:p.H154R,TP53:NM_000546:exon6:c.A578G:p.H193R,TP53:NM_001126112:exon6:c.A578G:p.H193R,TP53:NM_001126113:exon6:c.A578G:p.H193R,TP53:NM_001126114:exon6:c.A578G:p.H193R,TP53:NM_001276695:exon6:c.A461G:p.H154R,TP53:NM_001276696:exon6:c.A461G:p.H154R,TP53:NM_001276760:exon6:c.A461G:p.H154R,TP53:NM_001276761:exon6:c.A461G:p.H154R",D,D,D,D,D,D
chr17,18678497,18678497,G,A,R009_F,FBXW10,Missense_Mutation,NM_001267586,exon12,c.G2168A,p.R723Q,SNP,SNVindel,exonic,FBXW10,NA,nonsynonymous SNV,"FBXW10:NM_001267586:exon12:c.G2168A:p.R723Q,FBXW10:NM_001267585:exon13:c.G2327A:p.R776Q",T,.,N,T,N,T
chr17,28538391,28538391,G,A,R009_F,SLC6A4,Missense_Mutation,NM_001045,exon10,c.C1256T,p.A419V,SNP,SNVindel,exonic,SLC6A4,NA,nonsynonymous SNV,SLC6A4:NM_001045:exon10:c.C1256T:p.A419V,D,D,D,T,D,T
chr17,46053334,46053334,A,G,R009_F,CDK5RAP3,Silent,NM_001278198,exon6,c.A78G,p.E26E,SNP,SNVindel,exonic,CDK5RAP3,NA,synonymous SNV,"CDK5RAP3:NM_001278198:exon6:c.A78G:p.E26E,CDK5RAP3:NM_001278216:exon6:c.A78G:p.E26E,CDK5RAP3:NM_001278217:exon7:c.A492G:p.E164E,CDK5RAP3:NM_001278197:exon8:c.A828G:p.E276E,CDK5RAP3:NM_176096:exon8:c.A753G:p.E251E",NA,NA,NA,NA,NA,NA
chr17,46628355,46628355,G,A,R009_F,HOXB3,Silent,NM_002146,exon4,c.C637T,p.L213L,SNP,SNVindel,exonic,HOXB3,NA,synonymous SNV,"HOXB3:NM_002146:exon4:c.C637T:p.L213L,HOXB3:NM_001330322:exon5:c.C418T:p.L140L,HOXB3:NM_001330323:exon5:c.C241T:p.L81L",NA,NA,NA,NA,NA,NA
chr17,48733289,48733289,G,A,R009_F,ABCC3,Missense_Mutation,NM_001144070,exon2,c.G142A,p.A48T,SNP,SNVindel,exonic,ABCC3,NA,nonsynonymous SNV,"ABCC3:NM_001144070:exon2:c.G142A:p.A48T,ABCC3:NM_003786:exon2:c.G142A:p.A48T",T,N,N,T,N,T
chr19,3783886,3783886,G,A,R009_F,MATK,Missense_Mutation,NM_139354,exon5,c.C385T,p.R129C,SNP,SNVindel,exonic,MATK,NA,nonsynonymous SNV,"MATK:NM_139354:exon5:c.C385T:p.R129C,MATK:NM_002378:exon6:c.C511T:p.R171C,MATK:NM_139355:exon6:c.C508T:p.R170C",D,D,D,T,D,T
chr19,18368871,18368871,C,T,R009_F,IQCN,Missense_Mutation,NM_001145304,exon4,c.G3223A,p.A1075T,SNP,SNVindel,exonic,IQCN,NA,nonsynonymous SNV,"IQCN:NM_001145304:exon4:c.G3223A:p.A1075T,IQCN:NM_001145305:exon4:c.G2524A:p.A842T,IQCN:NM_025249:exon4:c.G2662A:p.A888T",T,.,N,T,N,T
chr19,55354372,55354372,C,T,R009_F,KIR2DS4,Missense_Mutation,NM_001281971,exon5,c.C692T,p.P231L,SNP,SNVindel,exonic,KIR2DS4,NA,nonsynonymous SNV,KIR2DS4:NM_001281971:exon5:c.C692T:p.P231L,NA,NA,NA,NA,NA,NA
chr19,56565127,56565127,G,A,R009_F,NLRP5,Silent,NM_153447,exon13,c.G3252A,p.A1084A,SNP,SNVindel,exonic,NLRP5,NA,synonymous SNV,NLRP5:NM_153447:exon13:c.G3252A:p.A1084A,NA,NA,NA,NA,NA,NA
chr19,56953826,56953826,C,T,R009_F,ZNF667,Missense_Mutation,NM_022103,exon5,c.G538A,p.A180T,SNP,SNVindel,exonic,ZNF667,NA,nonsynonymous SNV,"ZNF667:NM_022103:exon5:c.G538A:p.A180T,ZNF667:NM_001321355:exon6:c.G367A:p.A123T,ZNF667:NM_001321356:exon7:c.G538A:p.A180T",T,N,D,T,N,T
chr20,2291716,2291716,G,A,R009_F,TGM3,Missense_Mutation,NM_003245,exon4,c.G481A,p.G161S,SNP,SNVindel,exonic,TGM3,NA,nonsynonymous SNV,TGM3:NM_003245:exon4:c.G481A:p.G161S,D,D,D,D,D,D
chr20,37144971,37144971,C,T,R009_F,RALGAPB,Missense_Mutation,NM_001282917,exon7,c.C1009T,p.R337C,SNP,SNVindel,exonic,RALGAPB,NA,nonsynonymous SNV,"RALGAPB:NM_001282917:exon7:c.C1009T:p.R337C,RALGAPB:NM_001282918:exon7:c.C1009T:p.R337C,RALGAPB:NM_020336:exon7:c.C1009T:p.R337C",D,D,D,.,D,T
chr20,44574947,44574947,G,A,R009_F,PCIF1,Missense_Mutation,NM_022104,exon14,c.G1537A,p.A513T,SNP,SNVindel,exonic,PCIF1,NA,nonsynonymous SNV,PCIF1:NM_022104:exon14:c.G1537A:p.A513T,D,D,D,.,D,D
chr21,46020536,46020536,T,C,R009_F,KRTAP10-7,Silent,NM_198689,exon1,c.T15C,p.T5T,SNP,SNVindel,exonic,KRTAP10-7,NA,synonymous SNV,KRTAP10-7:NM_198689:exon1:c.T15C:p.T5T,NA,NA,NA,NA,NA,NA
chr21,46020542,46020542,T,C,R009_F,KRTAP10-7,Silent,NM_198689,exon1,c.T21C,p.S7S,SNP,SNVindel,exonic,KRTAP10-7,NA,synonymous SNV,KRTAP10-7:NM_198689:exon1:c.T21C:p.S7S,NA,NA,NA,NA,NA,NA
chrX,76912063,76912063,G,A,R009_F,ATRX,Missense_Mutation,NM_138270,exon12,c.C4087T,p.R1363W,SNP,SNVindel,exonic,ATRX,NA,nonsynonymous SNV,"ATRX:NM_138270:exon12:c.C4087T:p.R1363W,ATRX:NM_000489:exon13:c.C4201T:p.R1401W",D,U,D,D,D,D
chrX,101139487,101139487,G,T,R009_F,ZMAT1,Missense_Mutation,NM_001011657,exon7,c.C912A,p.F304L,SNP,SNVindel,exonic,ZMAT1,NA,nonsynonymous SNV,"ZMAT1:NM_001011657:exon7:c.C912A:p.F304L,ZMAT1:NM_001282401:exon9:c.C399A:p.F133L,ZMAT1:NM_001282400:exon10:c.C399A:p.F133L",T,N,D,T,D,T
chrX,101970553,101970553,C,A,R009_F,ARMCX5-GPRASP2,Silent,NM_001184875,exon4,c.C756A,p.S252S,SNP,SNVindel,exonic,ARMCX5-GPRASP2;GPRASP2,NA,synonymous SNV,"GPRASP2:NM_001184875:exon4:c.C756A:p.S252S,GPRASP2:NM_138437:exon4:c.C756A:p.S252S,GPRASP2:NM_001004051:exon5:c.C756A:p.S252S,GPRASP2:NM_001184874:exon5:c.C756A:p.S252S,GPRASP2:NM_001184876:exon5:c.C756A:p.S252S,ARMCX5-GPRASP2:NM_001199818:exon7:c.C756A:p.S252S",NA,NA,NA,NA,NA,NA
chr1,1431165,1431165,C,T,R009_S,ATAD3B,Missense_Mutation,NM_001317238,exon14,c.C1777T,p.P593S,SNP,SNVindel,exonic,ATAD3B,NA,nonsynonymous SNV,"ATAD3B:NM_001317238:exon14:c.C1777T:p.P593S,ATAD3B:NM_031921:exon16:c.C1915T:p.P639S",D,.,P,D,N,T
chr1,17405910,17405910,C,T,R009_S,PADI2,Missense_Mutation,NM_007365,exon11,c.G1159A,p.G387S,SNP,SNVindel,exonic,PADI2,NA,nonsynonymous SNV,PADI2:NM_007365:exon11:c.G1159A:p.G387S,T,D,D,T,D,T
chr1,22179287,22179287,C,T,R009_S,HSPG2,Silent,NM_001291860,exon52,c.G6633A,p.P2211P,SNP,SNVindel,exonic,HSPG2,NA,synonymous SNV,"HSPG2:NM_001291860:exon52:c.G6633A:p.P2211P,HSPG2:NM_005529:exon52:c.G6630A:p.P2210P",NA,NA,NA,NA,NA,NA
chr1,74507071,74507071,C,T,R009_S,LRRIQ3,Missense_Mutation,NM_001105659,exon7,c.G1544A,p.R515H,SNP,SNVindel,exonic,LRRIQ3,NA,nonsynonymous SNV,LRRIQ3:NM_001105659:exon7:c.G1544A:p.R515H,T,.,N,T,N,T
chr1,145112468,145112468,A,C,R009_S,SEC22B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SEC22B,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr1,148004726,148004726,T,A,R009_S,NBPF26,Missense_Mutation,NM_001351372,exon30,c.A3833T,p.Y1278F,SNP,SNVindel,exonic,NBPF26,NA,nonsynonymous SNV,NBPF26:NM_001351372:exon30:c.A3833T:p.Y1278F,.,.,N,T,.,T
chr1,155582933,155582933,A,T,R009_S,MSTO1,Missense_Mutation,NM_001256532,exon11,c.A1192T,p.T398S,SNP,SNVindel,exonic,MSTO1,NA,nonsynonymous SNV,"MSTO1:NM_001256532:exon11:c.A1192T:p.T398S,MSTO1:NM_001256533:exon11:c.A1192T:p.T398S,MSTO1:NM_001350772:exon11:c.A1192T:p.T398S,MSTO1:NM_001350773:exon11:c.A1192T:p.T398S,MSTO1:NM_001350774:exon11:c.A1192T:p.T398S,MSTO1:NM_001350775:exon11:c.A1192T:p.T398S,MSTO1:NM_001350776:exon11:c.A1027T:p.T343S,MSTO1:NM_001350777:exon11:c.A661T:p.T221S,MSTO1:NM_001350778:exon11:c.A661T:p.T221S,MSTO1:NM_001350779:exon11:c.A661T:p.T221S,MSTO1:NM_001350780:exon11:c.A658T:p.T220S,MSTO1:NM_001350781:exon11:c.A658T:p.T220S,MSTO1:NM_001350782:exon11:c.A658T:p.T220S,MSTO1:NM_001350783:exon11:c.A658T:p.T220S,MSTO1:NM_001350784:exon11:c.A649T:p.T217S,MSTO1:NM_001350785:exon11:c.A649T:p.T217S,MSTO1:NM_001350786:exon11:c.A658T:p.T220S,MSTO1:NM_001350787:exon11:c.A649T:p.T217S,MSTO1:NM_001350788:exon11:c.A658T:p.T220S,MSTO1:NM_001350789:exon11:c.A649T:p.T217S,MSTO1:NM_018116:exon11:c.A1192T:p.T398S",T,D,D,T,N,T
chr1,170967394,170967394,C,T,R009_S,MROH9,Silent,NM_001163629,exon15,c.C1575T,p.I525I,SNP,SNVindel,exonic,MROH9,NA,synonymous SNV,"MROH9:NM_001163629:exon15:c.C1575T:p.I525I,MROH9:NM_025063:exon15:c.C1575T:p.I525I",NA,NA,NA,NA,NA,NA
chr1,175063179,175063179,A,C,R009_S,TNN,Missense_Mutation,NM_022093,exon7,c.A1378C,p.T460P,SNP,SNVindel,exonic,TNN,NA,nonsynonymous SNV,TNN:NM_022093:exon7:c.A1378C:p.T460P,T,N,N,T,D,T
chr1,176564334,176564334,A,G,R009_S,PAPPA2,Missense_Mutation,NM_020318,exon3,c.A1594G,p.I532V,SNP,SNVindel,exonic,PAPPA2,NA,nonsynonymous SNV,"PAPPA2:NM_020318:exon3:c.A1594G:p.I532V,PAPPA2:NM_021936:exon3:c.A1594G:p.I532V",T,N,N,T,N,T
chr1,214557933,214557933,C,T,R009_S,PTPN14,Missense_Mutation,NM_005401,exon13,c.G1265A,p.R422Q,SNP,SNVindel,exonic,PTPN14,NA,nonsynonymous SNV,PTPN14:NM_005401:exon13:c.G1265A:p.R422Q,D,D,D,T,D,D
chr2,141083348,141083348,G,C,R009_S,LRP1B,Missense_Mutation,NM_018557,exon80,c.C12323G,p.S4108C,SNP,SNVindel,exonic,LRP1B,NA,nonsynonymous SNV,LRP1B:NM_018557:exon80:c.C12323G:p.S4108C,D,U,N,D,N,T
chr2,178681634,178681634,A,G,R009_S,PDE11A,Silent,NM_001077196,exon6,c.T327C,p.F109F,SNP,SNVindel,exonic,PDE11A,NA,synonymous SNV,"PDE11A:NM_001077196:exon6:c.T327C:p.F109F,PDE11A:NM_001077358:exon8:c.T585C:p.F195F,PDE11A:NM_016953:exon9:c.T1659C:p.F553F,PDE11A:NM_001077197:exon10:c.T909C:p.F303F",NA,NA,NA,NA,NA,NA
chr2,209113112,209113112,C,T,R009_S,IDH1,Missense_Mutation,NM_001282386,exon4,c.G395A,p.R132H,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon4:c.G395A:p.R132H,IDH1:NM_001282387:exon4:c.G395A:p.R132H,IDH1:NM_005896:exon4:c.G395A:p.R132H",D,D,D,D,D,D
chr2,234847686,234847686,G,T,R009_S,TRPM8,Missense_Mutation,NM_024080,exon5,c.G393T,p.E131D,SNP,SNVindel,exonic,TRPM8,NA,nonsynonymous SNV,TRPM8:NM_024080:exon5:c.G393T:p.E131D,T,D,D,T,N,T
chr3,127334738,127334738,C,T,R009_S,MCM2,Missense_Mutation,NM_004526,exon9,c.C1462T,p.H488Y,SNP,SNVindel,exonic,MCM2,NA,nonsynonymous SNV,MCM2:NM_004526:exon9:c.C1462T:p.H488Y,D,D,D,T,D,T
chr4,41945816,41945816,G,C,R009_S,TMEM33,Silent,NM_018126,exon4,c.G381C,p.T127T,SNP,SNVindel,exonic,TMEM33,NA,synonymous SNV,TMEM33:NM_018126:exon4:c.G381C:p.T127T,NA,NA,NA,NA,NA,NA
chr4,71522155,71522155,T,C,R009_S,JCHAIN,Missense_Mutation,NM_144646,exon4,c.A371G,p.Y124C,SNP,SNVindel,exonic,JCHAIN,NA,nonsynonymous SNV,JCHAIN:NM_144646:exon4:c.A371G:p.Y124C,D,D,D,.,D,T
chr4,83978545,83978545,G,A,R009_S,COPS4,Silent,NM_001258006,exon6,c.G699A,p.T233T,SNP,SNVindel,exonic,COPS4,NA,synonymous SNV,"COPS4:NM_001258006:exon6:c.G699A:p.T233T,COPS4:NM_001330727:exon6:c.G699A:p.T233T,COPS4:NM_016129:exon6:c.G699A:p.T233T",NA,NA,NA,NA,NA,NA
chr4,155161714,155161714,G,A,R009_S,DCHS2,Missense_Mutation,NM_001358235,exon18,c.C7334T,p.P2445L,SNP,SNVindel,exonic,DCHS2,NA,nonsynonymous SNV,DCHS2:NM_001358235:exon18:c.C7334T:p.P2445L,.,D,D,.,.,D
chr5,39383169,39383169,C,T,R009_S,DAB2,Missense_Mutation,NM_001244871,exon9,c.G829A,p.D277N,SNP,SNVindel,exonic,DAB2,NA,nonsynonymous SNV,"DAB2:NM_001244871:exon9:c.G829A:p.D277N,DAB2:NM_001343:exon10:c.G892A:p.D298N",D,D,D,T,N,T
chr5,78376610,78376610,A,C,R009_S,BHMT2,Missense_Mutation,NM_017614,exon4,c.A359C,p.K120T,SNP,SNVindel,exonic,BHMT2,NA,nonsynonymous SNV,BHMT2:NM_017614:exon4:c.A359C:p.K120T,T,N,D,T,N,T
chr5,145252524,145252524,T,A,R009_S,GRXCR2,Missense_Mutation,NM_001080516,exon1,c.A8T,p.D3V,SNP,SNVindel,exonic,GRXCR2,NA,nonsynonymous SNV,GRXCR2:NM_001080516:exon1:c.A8T:p.D3V,D,D,D,T,N,T
chr6,49485205,49485205,G,T,R009_S,GLYATL3,Missense_Mutation,NM_001010904,exon4,c.G249T,p.R83S,SNP,SNVindel,exonic,GLYATL3,NA,nonsynonymous SNV,GLYATL3:NM_001010904:exon4:c.G249T:p.R83S,T,.,N,T,N,T
chr6,74528193,74528193,T,C,R009_S,CD109,Missense_Mutation,NM_001159588,exon30,c.T3763C,p.S1255P,SNP,SNVindel,exonic,CD109,NA,nonsynonymous SNV,"CD109:NM_001159588:exon30:c.T3763C:p.S1255P,CD109:NM_001159587:exon31:c.T3943C:p.S1315P,CD109:NM_133493:exon31:c.T3994C:p.S1332P",T,N,N,T,N,T
chr6,89975454,89975454,G,A,R009_S,GABRR2,Missense_Mutation,NM_002043,exon7,c.C767T,p.T256M,SNP,SNVindel,exonic,GABRR2,NA,nonsynonymous SNV,GABRR2:NM_002043:exon7:c.C767T:p.T256M,.,D,D,T,.,T
chr6,116937975,116937975,G,C,R009_S,RSPH4A,Silent,NM_001010892,exon1,c.G189C,p.P63P,SNP,SNVindel,exonic,RSPH4A,NA,synonymous SNV,"RSPH4A:NM_001010892:exon1:c.G189C:p.P63P,RSPH4A:NM_001161664:exon1:c.G189C:p.P63P",NA,NA,NA,NA,NA,NA
chr7,4900479,4900479,G,A,R009_S,PAPOLB,Silent,NM_020144,exon1,c.C963T,p.Y321Y,SNP,SNVindel,exonic,PAPOLB,NA,synonymous SNV,PAPOLB:NM_020144:exon1:c.C963T:p.Y321Y,NA,NA,NA,NA,NA,NA
chr7,11676413,11676413,G,A,R009_S,THSD7A,Silent,NM_015204,exon2,c.C366T,p.Y122Y,SNP,SNVindel,exonic,THSD7A,NA,synonymous SNV,THSD7A:NM_015204:exon2:c.C366T:p.Y122Y,NA,NA,NA,NA,NA,NA
chr7,21628900,21628900,A,G,R009_S,DNAH11,Missense_Mutation,NM_001277115,exon12,c.A2048G,p.E683G,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon12:c.A2048G:p.E683G,T,N,N,T,D,T
chr7,82784891,82784891,G,T,R009_S,PCLO,Missense_Mutation,NM_014510,exon2,c.C1066A,p.P356T,SNP,SNVindel,exonic,PCLO,NA,nonsynonymous SNV,"PCLO:NM_014510:exon2:c.C1066A:p.P356T,PCLO:NM_033026:exon2:c.C1066A:p.P356T",T,.,N,T,N,T
chr7,95665055,95665055,G,A,R009_S,DYNC1I1,Missense_Mutation,NM_001135557,exon12,c.G1295A,p.R432H,SNP,SNVindel,exonic,DYNC1I1,NA,nonsynonymous SNV,"DYNC1I1:NM_001135557:exon12:c.G1295A:p.R432H,DYNC1I1:NM_001278421:exon12:c.G1346A:p.R449H,DYNC1I1:NM_001278422:exon12:c.G1295A:p.R432H,DYNC1I1:NM_001135556:exon13:c.G1355A:p.R452H,DYNC1I1:NM_004411:exon13:c.G1406A:p.R469H",D,D,D,T,D,T
chr7,100634548,100634548,G,A,R009_S,MUC12,Missense_Mutation,NM_001164462,exon2,c.G704A,p.R235H,SNP,SNVindel,exonic,MUC12,NA,nonsynonymous SNV,MUC12:NM_001164462:exon2:c.G704A:p.R235H,D,.,N,T,N,T
chr7,107569607,107569607,C,T,R009_S,LAMB1,Missense_Mutation,NM_002291,exon31,c.G4789A,p.E1597K,SNP,SNVindel,exonic,LAMB1,NA,nonsynonymous SNV,LAMB1:NM_002291:exon31:c.G4789A:p.E1597K,T,.,D,T,N,T
chr7,142622671,142622671,G,A,R009_S,TRPV5,Missense_Mutation,NM_019841,exon8,c.C1075T,p.R359C,SNP,SNVindel,exonic,TRPV5,NA,nonsynonymous SNV,TRPV5:NM_019841:exon8:c.C1075T:p.R359C,T,N,D,D,N,T
chr7,156754935,156754935,A,G,R009_S,NOM1,Missense_Mutation,NM_001353366,exon5,c.A1726G,p.R576G,SNP,SNVindel,exonic,NOM1,NA,nonsynonymous SNV,"NOM1:NM_001353366:exon5:c.A1726G:p.R576G,NOM1:NM_138400:exon5:c.A1723G:p.R575G",D,U,D,T,D,T
chr10,3212381,3212381,G,A,R009_S,PITRM1,Missense_Mutation,NM_001242307,exon2,c.C74T,p.A25V,SNP,SNVindel,exonic,PITRM1,NA,nonsynonymous SNV,"PITRM1:NM_001242307:exon2:c.C74T:p.A25V,PITRM1:NM_001347725:exon2:c.C74T:p.A25V,PITRM1:NM_001347729:exon2:c.C50T:p.A17V,PITRM1:NM_001347730:exon2:c.C50T:p.A17V,PITRM1:NM_014889:exon2:c.C74T:p.A25V",T,N,N,T,N,T
chr10,24959219,24959219,A,G,R009_S,ARHGAP21,Silent,NM_001367447,exon3,c.T171C,p.S57S,SNP,SNVindel,exonic,ARHGAP21,NA,synonymous SNV,"ARHGAP21:NM_001367447:exon3:c.T171C:p.S57S,ARHGAP21:NM_001367448:exon3:c.T171C:p.S57S,ARHGAP21:NM_001367451:exon3:c.T171C:p.S57S,ARHGAP21:NM_001367453:exon3:c.T171C:p.S57S,ARHGAP21:NM_001367454:exon3:c.T171C:p.S57S,ARHGAP21:NM_020824:exon3:c.T171C:p.S57S",NA,NA,NA,NA,NA,NA
chr10,29779847,29779847,A,C,R009_S,SVIL,Missense_Mutation,NM_003174,exon20,c.T2843G,p.L948R,SNP,SNVindel,exonic,SVIL,NA,nonsynonymous SNV,"SVIL:NM_003174:exon20:c.T2843G:p.L948R,SVIL:NM_001323600:exon21:c.T2939G:p.L980R,SVIL:NM_021738:exon22:c.T4121G:p.L1374R,SVIL:NM_001323599:exon23:c.T3191G:p.L1064R",D,D,D,T,D,D
chr10,43312088,43312088,G,A,R009_S,BMS1,Missense_Mutation,NM_014753,exon14,c.G2371A,p.V791M,SNP,SNVindel,exonic,BMS1,NA,nonsynonymous SNV,BMS1:NM_014753:exon14:c.G2371A:p.V791M,T,D,D,T,N,T
chr10,100195054,100195054,C,T,R009_S,HPS1,Missense_Mutation,NM_000195,exon5,c.G373A,p.V125M,SNP,SNVindel,exonic,HPS1,NA,nonsynonymous SNV,"HPS1:NM_000195:exon5:c.G373A:p.V125M,HPS1:NM_001322476:exon5:c.G373A:p.V125M,HPS1:NM_001322477:exon5:c.G373A:p.V125M,HPS1:NM_001322478:exon5:c.G373A:p.V125M,HPS1:NM_001322479:exon5:c.G373A:p.V125M,HPS1:NM_001322490:exon5:c.G373A:p.V125M,HPS1:NM_001322491:exon5:c.G373A:p.V125M,HPS1:NM_001322492:exon5:c.G373A:p.V125M,HPS1:NM_182639:exon5:c.G373A:p.V125M",T,N,N,T,N,T
chr11,55322181,55322181,G,T,R009_S,OR4C15,Missense_Mutation,NM_001001920,exon1,c.G237T,p.K79N,SNP,SNVindel,exonic,OR4C15,NA,nonsynonymous SNV,OR4C15:NM_001001920:exon1:c.G237T:p.K79N,T,.,N,T,D,T
chr11,56258358,56258358,G,T,R009_S,OR5M8,Nonsense_Mutation,NM_001005282,exon1,c.C489A,p.Y163X,SNP,SNVindel,exonic,OR5M8,NA,stopgain,OR5M8:NM_001005282:exon1:c.C489A:p.Y163X,.,N,D,.,.,.
chr11,78239928,78239928,A,C,R009_S,NARS2,Missense_Mutation,NM_024678,exon6,c.T649G,p.L217V,SNP,SNVindel,exonic,NARS2,NA,nonsynonymous SNV,NARS2:NM_024678:exon6:c.T649G:p.L217V,D,D,D,D,D,D
chr12,22069947,22069947,C,A,R009_S,ABCC9,Missense_Mutation,NM_005691,exon4,c.G497T,p.R166L,SNP,SNVindel,exonic,ABCC9,NA,nonsynonymous SNV,"ABCC9:NM_005691:exon4:c.G497T:p.R166L,ABCC9:NM_020297:exon4:c.G497T:p.R166L",D,D,D,D,D,D
chr12,31250875,31250875,G,C,R009_S,DDX11,Missense_Mutation,NM_001257144,exon18,c.G1819C,p.A607P,SNP,SNVindel,exonic,DDX11,NA,nonsynonymous SNV,"DDX11:NM_001257144:exon18:c.G1819C:p.A607P,DDX11:NM_001257145:exon18:c.G1741C:p.A581P,DDX11:NM_004399:exon18:c.G1819C:p.A607P,DDX11:NM_030653:exon18:c.G1819C:p.A607P,DDX11:NM_152438:exon18:c.G1819C:p.A607P",T,D,D,T,N,T
chr12,52843379,52843379,G,A,R009_S,KRT6B,Silent,NM_005555,exon5,c.C951T,p.S317S,SNP,SNVindel,exonic,KRT6B,NA,synonymous SNV,KRT6B:NM_005555:exon5:c.C951T:p.S317S,NA,NA,NA,NA,NA,NA
chr12,53091520,53091520,C,T,R009_S,KRT77,Missense_Mutation,NM_175078,exon2,c.G704A,p.R235H,SNP,SNVindel,exonic,KRT77,NA,nonsynonymous SNV,KRT77:NM_175078:exon2:c.G704A:p.R235H,D,.,N,D,D,T
chr12,112583404,112583404,A,G,R009_S,TRAFD1,Missense_Mutation,NM_001143906,exon7,c.A865G,p.I289V,SNP,SNVindel,exonic,TRAFD1,NA,nonsynonymous SNV,"TRAFD1:NM_001143906:exon7:c.A865G:p.I289V,TRAFD1:NM_006700:exon7:c.A865G:p.I289V",T,N,D,T,N,T
chr12,132241091,132241091,C,T,R009_S,SFSWAP,Missense_Mutation,NM_001261411,exon11,c.C1622T,p.A541V,SNP,SNVindel,exonic,SFSWAP,NA,nonsynonymous SNV,"SFSWAP:NM_001261411:exon11:c.C1622T:p.A541V,SFSWAP:NM_004592:exon11:c.C1622T:p.A541V",T,N,N,T,N,T
chr14,20502812,20502812,C,A,R009_S,OR4K13,Missense_Mutation,NM_001004714,exon1,c.G106T,p.V36L,SNP,SNVindel,exonic,OR4K13,NA,nonsynonymous SNV,OR4K13:NM_001004714:exon1:c.G106T:p.V36L,T,U,N,T,N,T
chr14,33015677,33015677,T,C,R009_S,AKAP6,Silent,NM_004274,exon4,c.T1818C,p.G606G,SNP,SNVindel,exonic,AKAP6,NA,synonymous SNV,AKAP6:NM_004274:exon4:c.T1818C:p.G606G,NA,NA,NA,NA,NA,NA
chr14,54903149,54903149,C,T,R009_S,CNIH1,Missense_Mutation,NM_005776,exon2,c.G88A,p.A30T,SNP,SNVindel,exonic,CNIH1,NA,nonsynonymous SNV,CNIH1:NM_005776:exon2:c.G88A:p.A30T,T,D,D,T,N,T
chr14,70924602,70924602,T,G,R009_S,ADAM21,Missense_Mutation,NM_003813,exon2,c.T386G,p.F129C,SNP,SNVindel,exonic,ADAM21,NA,nonsynonymous SNV,ADAM21:NM_003813:exon2:c.T386G:p.F129C,.,U,N,T,.,T
chr14,70924613,70924613,C,T,R009_S,ADAM21,Nonsense_Mutation,NM_003813,exon2,c.C397T,p.R133X,SNP,SNVindel,exonic,ADAM21,NA,stopgain,ADAM21:NM_003813:exon2:c.C397T:p.R133X,.,U,D,.,.,.
chr14,104506666,104506666,G,A,R009_S,TDRD9,Missense_Mutation,NM_153046,exon33,c.G3850A,p.V1284I,SNP,SNVindel,exonic,TDRD9,NA,nonsynonymous SNV,TDRD9:NM_153046:exon33:c.G3850A:p.V1284I,T,.,N,T,N,T
chr15,43819231,43819231,C,T,R009_S,MAP1A,Missense_Mutation,NM_002373,exon4,c.C5560T,p.P1854S,SNP,SNVindel,exonic,MAP1A,NA,nonsynonymous SNV,MAP1A:NM_002373:exon4:c.C5560T:p.P1854S,D,N,D,T,N,T
chr15,50540451,50540451,A,G,R009_S,HDC,Silent,NM_002112,exon10,c.T1131C,p.H377H,SNP,SNVindel,exonic,HDC,NA,synonymous SNV,HDC:NM_002112:exon10:c.T1131C:p.H377H,NA,NA,NA,NA,NA,NA
chr15,56394373,56394373,T,A,R009_S,RFX7,Silent,NM_001368073,exon6,c.A306T,p.G102G,SNP,SNVindel,exonic,RFX7,NA,synonymous SNV,"RFX7:NM_001368073:exon6:c.A306T:p.G102G,RFX7:NM_001368074:exon6:c.A306T:p.G102G,RFX7:NM_001370554:exon6:c.A306T:p.G102G,RFX7:NM_022841:exon7:c.A597T:p.G199G,RFX7:NM_001370561:exon9:c.A597T:p.G199G",NA,NA,NA,NA,NA,NA
chr15,79284113,79284113,G,A,R009_S,RASGRF1,Silent,NM_153815,exon8,c.C747T,p.P249P,SNP,SNVindel,exonic,RASGRF1,NA,synonymous SNV,"RASGRF1:NM_153815:exon8:c.C747T:p.P249P,RASGRF1:NM_001145648:exon21:c.C3051T:p.P1017P,RASGRF1:NM_002891:exon22:c.C3099T:p.P1033P",NA,NA,NA,NA,NA,NA
chr16,4786527,4786527,C,T,R009_S,C16orf71,Silent,NM_139170,exon2,c.C12T,p.N4N,SNP,SNVindel,exonic,C16orf71,NA,synonymous SNV,C16orf71:NM_139170:exon2:c.C12T:p.N4N,NA,NA,NA,NA,NA,NA
chr16,75140434,75140434,C,G,R009_S,ZNRF1,Missense_Mutation,NM_032268,exon4,c.C681G,p.D227E,SNP,SNVindel,exonic,ZNRF1,NA,nonsynonymous SNV,ZNRF1:NM_032268:exon4:c.C681G:p.D227E,D,D,D,.,D,T
chr16,80646575,80646575,G,A,R009_S,CDYL2,Missense_Mutation,NM_152342,exon5,c.C1166T,p.T389M,SNP,SNVindel,exonic,CDYL2,NA,nonsynonymous SNV,CDYL2:NM_152342:exon5:c.C1166T:p.T389M,D,D,D,T,D,T
chr17,7578271,7578271,T,C,R009_S,TP53,Missense_Mutation,NM_001126115,exon2,c.A182G,p.H61R,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon2:c.A182G:p.H61R,TP53:NM_001126116:exon2:c.A182G:p.H61R,TP53:NM_001126117:exon2:c.A182G:p.H61R,TP53:NM_001276697:exon2:c.A101G:p.H34R,TP53:NM_001276698:exon2:c.A101G:p.H34R,TP53:NM_001276699:exon2:c.A101G:p.H34R,TP53:NM_001126118:exon5:c.A461G:p.H154R,TP53:NM_000546:exon6:c.A578G:p.H193R,TP53:NM_001126112:exon6:c.A578G:p.H193R,TP53:NM_001126113:exon6:c.A578G:p.H193R,TP53:NM_001126114:exon6:c.A578G:p.H193R,TP53:NM_001276695:exon6:c.A461G:p.H154R,TP53:NM_001276696:exon6:c.A461G:p.H154R,TP53:NM_001276760:exon6:c.A461G:p.H154R,TP53:NM_001276761:exon6:c.A461G:p.H154R",D,D,D,D,D,D
chr17,18678497,18678497,G,A,R009_S,FBXW10,Missense_Mutation,NM_001267586,exon12,c.G2168A,p.R723Q,SNP,SNVindel,exonic,FBXW10,NA,nonsynonymous SNV,"FBXW10:NM_001267586:exon12:c.G2168A:p.R723Q,FBXW10:NM_001267585:exon13:c.G2327A:p.R776Q",T,.,N,T,N,T
chr17,28538391,28538391,G,A,R009_S,SLC6A4,Missense_Mutation,NM_001045,exon10,c.C1256T,p.A419V,SNP,SNVindel,exonic,SLC6A4,NA,nonsynonymous SNV,SLC6A4:NM_001045:exon10:c.C1256T:p.A419V,D,D,D,T,D,T
chr17,46628355,46628355,G,A,R009_S,HOXB3,Silent,NM_002146,exon4,c.C637T,p.L213L,SNP,SNVindel,exonic,HOXB3,NA,synonymous SNV,"HOXB3:NM_002146:exon4:c.C637T:p.L213L,HOXB3:NM_001330322:exon5:c.C418T:p.L140L,HOXB3:NM_001330323:exon5:c.C241T:p.L81L",NA,NA,NA,NA,NA,NA
chr17,48733289,48733289,G,A,R009_S,ABCC3,Missense_Mutation,NM_001144070,exon2,c.G142A,p.A48T,SNP,SNVindel,exonic,ABCC3,NA,nonsynonymous SNV,"ABCC3:NM_001144070:exon2:c.G142A:p.A48T,ABCC3:NM_003786:exon2:c.G142A:p.A48T",T,N,N,T,N,T
chr19,3783886,3783886,G,A,R009_S,MATK,Missense_Mutation,NM_139354,exon5,c.C385T,p.R129C,SNP,SNVindel,exonic,MATK,NA,nonsynonymous SNV,"MATK:NM_139354:exon5:c.C385T:p.R129C,MATK:NM_002378:exon6:c.C511T:p.R171C,MATK:NM_139355:exon6:c.C508T:p.R170C",D,D,D,T,D,T
chr19,18368871,18368871,C,T,R009_S,IQCN,Missense_Mutation,NM_001145304,exon4,c.G3223A,p.A1075T,SNP,SNVindel,exonic,IQCN,NA,nonsynonymous SNV,"IQCN:NM_001145304:exon4:c.G3223A:p.A1075T,IQCN:NM_001145305:exon4:c.G2524A:p.A842T,IQCN:NM_025249:exon4:c.G2662A:p.A888T",T,.,N,T,N,T
chr19,40886961,40886961,C,A,R009_S,HIPK4,Nonsense_Mutation,NM_144685,exon3,c.G937T,p.E313X,SNP,SNVindel,exonic,HIPK4,NA,stopgain,HIPK4:NM_144685:exon3:c.G937T:p.E313X,.,D,A,.,.,.
chr19,47192938,47192938,C,A,R009_S,PRKD2,Silent,NM_001079882,exon13,c.G1356T,p.G452G,SNP,SNVindel,exonic,PRKD2,NA,synonymous SNV,"PRKD2:NM_001079882:exon13:c.G1356T:p.G452G,PRKD2:NM_016457:exon14:c.G1827T:p.G609G,PRKD2:NM_001079880:exon15:c.G1827T:p.G609G,PRKD2:NM_001079881:exon15:c.G1827T:p.G609G",NA,NA,NA,NA,NA,NA
chr19,55354372,55354372,C,T,R009_S,KIR2DS4,Missense_Mutation,NM_001281971,exon5,c.C692T,p.P231L,SNP,SNVindel,exonic,KIR2DS4,NA,nonsynonymous SNV,KIR2DS4:NM_001281971:exon5:c.C692T:p.P231L,NA,NA,NA,NA,NA,NA
chr19,56565127,56565127,G,A,R009_S,NLRP5,Silent,NM_153447,exon13,c.G3252A,p.A1084A,SNP,SNVindel,exonic,NLRP5,NA,synonymous SNV,NLRP5:NM_153447:exon13:c.G3252A:p.A1084A,NA,NA,NA,NA,NA,NA
chr20,2291716,2291716,G,A,R009_S,TGM3,Missense_Mutation,NM_003245,exon4,c.G481A,p.G161S,SNP,SNVindel,exonic,TGM3,NA,nonsynonymous SNV,TGM3:NM_003245:exon4:c.G481A:p.G161S,D,D,D,D,D,D
chr20,37144971,37144971,C,T,R009_S,RALGAPB,Missense_Mutation,NM_001282917,exon7,c.C1009T,p.R337C,SNP,SNVindel,exonic,RALGAPB,NA,nonsynonymous SNV,"RALGAPB:NM_001282917:exon7:c.C1009T:p.R337C,RALGAPB:NM_001282918:exon7:c.C1009T:p.R337C,RALGAPB:NM_020336:exon7:c.C1009T:p.R337C",D,D,D,.,D,T
chr21,45679361,45679361,G,A,R009_S,DNMT3L,Silent,NM_013369,exon5,c.C303T,p.S101S,SNP,SNVindel,exonic,DNMT3L,NA,synonymous SNV,"DNMT3L:NM_013369:exon5:c.C303T:p.S101S,DNMT3L:NM_175867:exon5:c.C303T:p.S101S",NA,NA,NA,NA,NA,NA
chr22,29091840,29091840,T,C,R009_S,CHEK2,Missense_Mutation,NM_001349956,exon10,c.A916G,p.K306E,SNP,SNVindel,exonic,CHEK2,NA,nonsynonymous SNV,"CHEK2:NM_001349956:exon10:c.A916G:p.K306E,CHEK2:NM_145862:exon10:c.A1030G:p.K344E,CHEK2:NM_007194:exon11:c.A1117G:p.K373E,CHEK2:NM_001005735:exon12:c.A1246G:p.K416E,CHEK2:NM_001257387:exon12:c.A454G:p.K152E",D,D,D,T,D,T
chr22,29091841,29091841,G,A,R009_S,CHEK2,Silent,NM_001349956,exon10,c.C915T,p.S305S,SNP,SNVindel,exonic,CHEK2,NA,synonymous SNV,"CHEK2:NM_001349956:exon10:c.C915T:p.S305S,CHEK2:NM_145862:exon10:c.C1029T:p.S343S,CHEK2:NM_007194:exon11:c.C1116T:p.S372S,CHEK2:NM_001005735:exon12:c.C1245T:p.S415S,CHEK2:NM_001257387:exon12:c.C453T:p.S151S",NA,NA,NA,NA,NA,NA
chrX,67940871,67940871,G,A,R009_S,STARD8,Missense_Mutation,NM_001142504,exon8,c.G1915A,p.D639N,SNP,SNVindel,exonic,STARD8,NA,nonsynonymous SNV,"STARD8:NM_001142504:exon8:c.G1915A:p.D639N,STARD8:NM_014725:exon8:c.G1915A:p.D639N,STARD8:NM_001142503:exon9:c.G2155A:p.D719N",D,D,D,T,D,T
chrX,75004079,75004079,C,A,R009_S,MAGEE2,Missense_Mutation,NM_138703,exon1,c.G808T,p.V270L,SNP,SNVindel,exonic,MAGEE2,NA,nonsynonymous SNV,MAGEE2:NM_138703:exon1:c.G808T:p.V270L,T,.,N,T,N,T
chrX,76937998,76937998,G,A,R009_S,ATRX,Missense_Mutation,NM_138270,exon8,c.C2636T,p.S879F,SNP,SNVindel,exonic,ATRX,NA,nonsynonymous SNV,"ATRX:NM_138270:exon8:c.C2636T:p.S879F,ATRX:NM_000489:exon9:c.C2750T:p.S917F",T,N,N,D,N,D
chrX,101139487,101139487,G,T,R009_S,ZMAT1,Missense_Mutation,NM_001011657,exon7,c.C912A,p.F304L,SNP,SNVindel,exonic,ZMAT1,NA,nonsynonymous SNV,"ZMAT1:NM_001011657:exon7:c.C912A:p.F304L,ZMAT1:NM_001282401:exon9:c.C399A:p.F133L,ZMAT1:NM_001282400:exon10:c.C399A:p.F133L",T,N,D,T,D,T
chrX,101970553,101970553,C,A,R009_S,ARMCX5-GPRASP2,Silent,NM_001184875,exon4,c.C756A,p.S252S,SNP,SNVindel,exonic,ARMCX5-GPRASP2;GPRASP2,NA,synonymous SNV,"GPRASP2:NM_001184875:exon4:c.C756A:p.S252S,GPRASP2:NM_138437:exon4:c.C756A:p.S252S,GPRASP2:NM_001004051:exon5:c.C756A:p.S252S,GPRASP2:NM_001184874:exon5:c.C756A:p.S252S,GPRASP2:NM_001184876:exon5:c.C756A:p.S252S,ARMCX5-GPRASP2:NM_001199818:exon7:c.C756A:p.S252S",NA,NA,NA,NA,NA,NA
chrX,132440146,132440146,G,T,R009_S,GPC4,Missense_Mutation,NM_001448,exon5,c.C914A,p.P305H,SNP,SNVindel,exonic,GPC4,NA,nonsynonymous SNV,GPC4:NM_001448:exon5:c.C914A:p.P305H,D,D,D,T,D,T
chrX,153580688,153580688,G,C,R009_S,FLNA,Missense_Mutation,NM_001456,exon40,c.C6606G,p.H2202Q,SNP,SNVindel,exonic,FLNA,NA,nonsynonymous SNV,"FLNA:NM_001456:exon40:c.C6606G:p.H2202Q,FLNA:NM_001110556:exon41:c.C6630G:p.H2210Q",D,D,D,T,D,T
chr1,110655226,110655226,G,T,R010_F,UBL4B,Missense_Mutation,NM_203412,exon1,c.G70T,p.A24S,SNP,SNVindel,exonic,UBL4B,NA,nonsynonymous SNV,UBL4B:NM_203412:exon1:c.G70T:p.A24S,T,N,N,T,N,T
chr1,118166293,118166293,G,A,R010_F,TENT5C,Missense_Mutation,NM_017709,exon2,c.G803A,p.R268H,SNP,SNVindel,exonic,TENT5C,NA,nonsynonymous SNV,TENT5C:NM_017709:exon2:c.G803A:p.R268H,D,D,D,T,D,T
chr1,152187116,152187116,C,T,R010_F,HRNR,Missense_Mutation,NM_001009931,exon3,c.G6989A,p.R2330Q,SNP,SNVindel,exonic,HRNR,NA,nonsynonymous SNV,HRNR:NM_001009931:exon3:c.G6989A:p.R2330Q,T,.,N,T,N,T
chr1,173569310,173569310,C,A,R010_F,SLC9C2,Silent,NM_178527,exon3,c.G174T,p.T58T,SNP,SNVindel,exonic,SLC9C2,NA,synonymous SNV,SLC9C2:NM_178527:exon3:c.G174T:p.T58T,NA,NA,NA,NA,NA,NA
chr1,186057370,186057370,C,A,R010_F,HMCN1,Missense_Mutation,NM_031935,exon62,c.C9539A,p.P3180H,SNP,SNVindel,exonic,HMCN1,NA,nonsynonymous SNV,HMCN1:NM_031935:exon62:c.C9539A:p.P3180H,D,D,D,T,D,T
chr1,248487699,248487699,G,T,R010_F,OR2M7,Missense_Mutation,NM_001004691,exon1,c.C172A,p.P58T,SNP,SNVindel,exonic,OR2M7,NA,nonsynonymous SNV,OR2M7:NM_001004691:exon1:c.C172A:p.P58T,D,U,N,T,D,T
chr1,248551545,248551545,G,A,R010_F,OR2T6,Silent,NM_001005471,exon1,c.G636A,p.S212S,SNP,SNVindel,exonic,OR2T6,NA,synonymous SNV,OR2T6:NM_001005471:exon1:c.G636A:p.S212S,NA,NA,NA,NA,NA,NA
chr2,69627505,69627505,G,T,R010_F,NFU1,Silent,NM_001002756,exon6,c.C288A,p.G96G,SNP,SNVindel,exonic,NFU1,NA,synonymous SNV,"NFU1:NM_001002756:exon6:c.C288A:p.G96G,NFU1:NM_001002755:exon7:c.C711A:p.G237G,NFU1:NM_015700:exon7:c.C639A:p.G213G",NA,NA,NA,NA,NA,NA
chr3,81695559,81695559,A,C,R010_F,GBE1,Missense_Mutation,NM_000158,exon6,c.T766G,p.F256V,SNP,SNVindel,exonic,GBE1,NA,nonsynonymous SNV,GBE1:NM_000158:exon6:c.T766G:p.F256V,D,D,D,D,D,D
chr3,160395161,160395161,G,A,R010_F,ARL14,Silent,NM_025047,exon1,c.G27A,p.P9P,SNP,SNVindel,exonic,ARL14,NA,synonymous SNV,ARL14:NM_025047:exon1:c.G27A:p.P9P,NA,NA,NA,NA,NA,NA
chr4,15638157,15638157,T,G,R010_F,FBXL5,Silent,NM_001193534,exon5,c.A723C,p.G241G,SNP,SNVindel,exonic,FBXL5,NA,synonymous SNV,"FBXL5:NM_001193534:exon5:c.A723C:p.G241G,FBXL5:NM_001193535:exon5:c.A675C:p.G225G,FBXL5:NM_012161:exon5:c.A726C:p.G242G",NA,NA,NA,NA,NA,NA
chr4,55138651,55138651,C,T,R010_F,PDGFRA,Missense_Mutation,NM_001347827,exon9,c.C1328T,p.P443L,SNP,SNVindel,exonic,PDGFRA,NA,nonsynonymous SNV,"PDGFRA:NM_001347827:exon9:c.C1328T:p.P443L,PDGFRA:NM_001347829:exon9:c.C1328T:p.P443L,PDGFRA:NM_001347830:exon9:c.C1367T:p.P456L,PDGFRA:NM_006206:exon9:c.C1328T:p.P443L,PDGFRA:NM_001347828:exon10:c.C1403T:p.P468L",D,U,D,D,D,D
chr5,16067851,16067851,C,T,R010_F,MARCHF11,Missense_Mutation,NM_001102562,exon4,c.G938A,p.R313Q,SNP,SNVindel,exonic,MARCHF11,NA,nonsynonymous SNV,MARCHF11:NM_001102562:exon4:c.G938A:p.R313Q,T,D,D,T,N,T
chr5,64933544,64933544,C,G,R010_F,TRAPPC13,Silent,NM_001093755,exon4,c.C237G,p.T79T,SNP,SNVindel,exonic,TRAPPC13,NA,synonymous SNV,"TRAPPC13:NM_001093755:exon4:c.C237G:p.T79T,TRAPPC13:NM_001093756:exon4:c.C237G:p.T79T,TRAPPC13:NM_001243737:exon4:c.C237G:p.T79T,TRAPPC13:NM_024941:exon4:c.C237G:p.T79T",NA,NA,NA,NA,NA,NA
chr5,128864262,128864262,G,A,R010_F,ADAMTS19,Missense_Mutation,NM_133638,exon6,c.G1220A,p.C407Y,SNP,SNVindel,exonic,ADAMTS19,NA,nonsynonymous SNV,ADAMTS19:NM_133638:exon6:c.G1220A:p.C407Y,D,D,D,D,D,D
chr5,131598434,131598434,C,A,R010_F,PDLIM4,Missense_Mutation,NM_001131027,exon2,c.C226A,p.L76I,SNP,SNVindel,exonic,PDLIM4,NA,nonsynonymous SNV,"PDLIM4:NM_001131027:exon2:c.C226A:p.L76I,PDLIM4:NM_003687:exon2:c.C226A:p.L76I",D,D,D,T,N,T
chr5,156277962,156277962,C,A,R010_F,PPP1R2B,Nonsense_Mutation,NM_206858,exon1,c.C389A,p.S130X,SNP,SNVindel,exonic,PPP1R2B,NA,stopgain,PPP1R2B:NM_206858:exon1:c.C389A:p.S130X,NA,NA,NA,NA,NA,NA
chr5,156635937,156635937,G,A,R010_F,ITK,Missense_Mutation,NM_005546,exon2,c.G176A,p.R59Q,SNP,SNVindel,exonic,ITK,NA,nonsynonymous SNV,ITK:NM_005546:exon2:c.G176A:p.R59Q,D,D,N,T,N,T
chr5,180582593,180582593,C,T,R010_F,OR2V2,Silent,NM_206880,exon1,c.C651T,p.A217A,SNP,SNVindel,exonic,OR2V2,NA,synonymous SNV,OR2V2:NM_206880:exon1:c.C651T:p.A217A,NA,NA,NA,NA,NA,NA
chr6,27107356,27107356,C,T,R010_F,HIST1H4I,Missense_Mutation,NM_003495,exon1,c.C269T,p.A90V,SNP,SNVindel,exonic,HIST1H4I,NA,nonsynonymous SNV,HIST1H4I:NM_003495:exon1:c.C269T:p.A90V,.,U,D,.,.,T
chr6,49425702,49425702,C,A,R010_F,MMUT,Missense_Mutation,NM_000255,exon3,c.G455T,p.R152L,SNP,SNVindel,exonic,MMUT,NA,nonsynonymous SNV,MMUT:NM_000255:exon3:c.G455T:p.R152L,D,D,D,D,D,D
chr7,1786588,1786588,C,T,R010_F,ELFN1,Missense_Mutation,NM_001128636,exon3,c.C2356T,p.R786W,SNP,SNVindel,exonic,ELFN1,NA,nonsynonymous SNV,ELFN1:NM_001128636:exon3:c.C2356T:p.R786W,D,.,D,T,D,.
chr7,2695791,2695791,C,T,R010_F,TTYH3,Silent,NM_025250,exon10,c.C1086T,p.A362A,SNP,SNVindel,exonic,TTYH3,NA,synonymous SNV,TTYH3:NM_025250:exon10:c.C1086T:p.A362A,NA,NA,NA,NA,NA,NA
chr7,4917591,4917591,C,T,R010_F,RADIL,Silent,NM_018059,exon2,c.G180A,p.S60S,SNP,SNVindel,exonic,RADIL,NA,synonymous SNV,RADIL:NM_018059:exon2:c.G180A:p.S60S,NA,NA,NA,NA,NA,NA
chr7,99707869,99707869,G,A,R010_F,TAF6,Missense_Mutation,NM_001190415,exon11,c.C1223T,p.T408M,SNP,SNVindel,exonic,TAF6,NA,nonsynonymous SNV,"TAF6:NM_001190415:exon11:c.C1223T:p.T408M,TAF6:NM_001365000:exon11:c.C1082T:p.T361M,TAF6:NM_001365001:exon11:c.C1082T:p.T361M,TAF6:NM_001365002:exon11:c.C1082T:p.T361M,TAF6:NM_005641:exon11:c.C1112T:p.T371M,TAF6:NM_139315:exon11:c.C1112T:p.T371M,TAF6:NM_001364998:exon12:c.C1112T:p.T371M,TAF6:NM_001364999:exon12:c.C1112T:p.T371M,TAF6:NM_001365003:exon12:c.C1082T:p.T361M,TAF6:NM_001365004:exon12:c.C1250T:p.T417M",D,D,D,T,N,T
chr7,101740780,101740780,A,G,R010_F,CUX1,Silent,NM_001202544,exon4,c.A390G,p.Q130Q,SNP,SNVindel,exonic,CUX1,NA,synonymous SNV,"CUX1:NM_001202544:exon4:c.A390G:p.Q130Q,CUX1:NM_001202546:exon4:c.A327G:p.Q109Q,CUX1:NM_001202543:exon5:c.A438G:p.Q146Q,CUX1:NM_001913:exon5:c.A438G:p.Q146Q,CUX1:NM_181500:exon5:c.A438G:p.Q146Q,CUX1:NM_181552:exon5:c.A405G:p.Q135Q",NA,NA,NA,NA,NA,NA
chr7,141708496,141708496,G,A,R010_F,MGAM,Silent,NM_001365693,exon3,c.G318A,p.P106P,SNP,SNVindel,exonic,MGAM,NA,synonymous SNV,"MGAM:NM_001365693:exon3:c.G318A:p.P106P,MGAM:NM_004668:exon3:c.G318A:p.P106P",NA,NA,NA,NA,NA,NA
chr8,27327438,27327438,C,T,R010_F,CHRNA2,Missense_Mutation,NM_000742,exon3,c.G134A,p.S45N,SNP,SNVindel,exonic,CHRNA2,NA,nonsynonymous SNV,"CHRNA2:NM_000742:exon3:c.G134A:p.S45N,CHRNA2:NM_001282455:exon3:c.G134A:p.S45N",T,N,N,T,N,T
chr8,139833618,139833618,C,A,R010_F,COL22A1,Nonsense_Mutation,NM_152888,exon7,c.G1006T,p.E336X,SNP,SNVindel,exonic,COL22A1,NA,stopgain,COL22A1:NM_152888:exon7:c.G1006T:p.E336X,.,D,A,.,.,.
chr9,340251,340251,C,T,R010_F,DOCK8,Missense_Mutation,NM_001190458,exon13,c.C1405T,p.R469W,SNP,SNVindel,exonic,DOCK8,NA,nonsynonymous SNV,"DOCK8:NM_001190458:exon13:c.C1405T:p.R469W,DOCK8:NM_001193536:exon13:c.C1405T:p.R469W,DOCK8:NM_203447:exon14:c.C1609T:p.R537W",D,D,D,T,D,D
chr11,5411306,5411306,C,T,R010_F,OR51M1,Silent,NM_001004756,exon1,c.C678T,p.I226I,SNP,SNVindel,exonic,OR51M1,NA,synonymous SNV,OR51M1:NM_001004756:exon1:c.C678T:p.I226I,NA,NA,NA,NA,NA,NA
chr11,55418693,55418693,T,C,R010_F,OR4S2,Missense_Mutation,NM_001004059,exon1,c.T314C,p.F105S,SNP,SNVindel,exonic,OR4S2,NA,nonsynonymous SNV,OR4S2:NM_001004059:exon1:c.T314C:p.F105S,D,D,P,T,D,T
chr11,62455280,62455280,G,A,R010_F,LRRN4CL,Missense_Mutation,NM_203422,exon2,c.C701T,p.A234V,SNP,SNVindel,exonic,LRRN4CL,NA,nonsynonymous SNV,LRRN4CL:NM_203422:exon2:c.C701T:p.A234V,T,U,N,.,N,T
chr12,1017790,1017790,C,A,R010_F,WNK1,Silent,NM_014823,exon26,c.C6237A,p.G2079G,SNP,SNVindel,exonic,WNK1,NA,synonymous SNV,"WNK1:NM_014823:exon26:c.C6237A:p.G2079G,WNK1:NM_001184985:exon28:c.C7761A:p.G2587G,WNK1:NM_018979:exon28:c.C6981A:p.G2327G,WNK1:NM_213655:exon28:c.C7737A:p.G2579G",NA,NA,NA,NA,NA,NA
chr12,81532991,81532991,A,C,R010_F,ACSS3,Missense_Mutation,NM_001330242,exon4,c.A724C,p.K242Q,SNP,SNVindel,exonic,ACSS3,NA,nonsynonymous SNV,"ACSS3:NM_001330242:exon4:c.A724C:p.K242Q,ACSS3:NM_024560:exon4:c.A727C:p.K243Q",T,D,N,T,N,T
chr13,25073509,25073509,C,T,R010_F,PARP4,Missense_Mutation,NM_006437,exon5,c.G407A,p.G136D,SNP,SNVindel,exonic,PARP4,NA,nonsynonymous SNV,PARP4:NM_006437:exon5:c.G407A:p.G136D,T,N,N,T,N,T
chr13,111372214,111372214,G,A,R010_F,ING1,Missense_Mutation,NM_001267728,exon2,c.G724A,p.E242K,SNP,SNVindel,exonic,ING1,NA,nonsynonymous SNV,"ING1:NM_001267728:exon2:c.G724A:p.E242K,ING1:NM_005537:exon2:c.G1204A:p.E402K,ING1:NM_198217:exon2:c.G643A:p.E215K,ING1:NM_198218:exon2:c.G568A:p.E190K,ING1:NM_198219:exon2:c.G775A:p.E259K",D,D,D,T,D,T
chr14,37777713,37777713,G,C,R010_F,MIPOL1,Missense_Mutation,NM_138731,exon10,c.G817C,p.A273P,SNP,SNVindel,exonic,MIPOL1,NA,nonsynonymous SNV,"MIPOL1:NM_138731:exon10:c.G817C:p.A273P,MIPOL1:NM_001195296:exon11:c.G817C:p.A273P,MIPOL1:NM_001195297:exon11:c.G817C:p.A273P",D,D,D,T,D,T
chr14,62547584,62547584,C,T,R010_F,SYT16,Silent,NM_001367654,exon4,c.C483T,p.S161S,SNP,SNVindel,exonic,SYT16,NA,synonymous SNV,"SYT16:NM_001367654:exon4:c.C483T:p.S161S,SYT16:NM_001367650:exon5:c.C108T:p.S36S,SYT16:NM_001367652:exon5:c.C696T:p.S232S,SYT16:NM_001367657:exon5:c.C477T:p.S159S,SYT16:NM_001367656:exon6:c.C1026T:p.S342S,SYT16:NM_001367659:exon6:c.C690T:p.S230S,SYT16:NM_001367663:exon6:c.C1026T:p.S342S,SYT16:NM_001367661:exon7:c.C1026T:p.S342S",NA,NA,NA,NA,NA,NA
chr14,68271954,68271954,C,A,R010_F,ZFYVE26,Missense_Mutation,NM_015346,exon8,c.G1251T,p.E417D,SNP,SNVindel,exonic,ZFYVE26,NA,nonsynonymous SNV,ZFYVE26:NM_015346:exon8:c.G1251T:p.E417D,T,D,D,T,N,T
chr15,33873780,33873780,G,C,R010_F,RYR3,Silent,NM_001036,exon14,c.G1509C,p.G503G,SNP,SNVindel,exonic,RYR3,NA,synonymous SNV,"RYR3:NM_001036:exon14:c.G1509C:p.G503G,RYR3:NM_001243996:exon14:c.G1509C:p.G503G",NA,NA,NA,NA,NA,NA
chr15,42446564,42446564,C,G,R010_F,PLA2G4F,Missense_Mutation,NM_213600,exon3,c.G277C,p.E93Q,SNP,SNVindel,exonic,PLA2G4F,NA,nonsynonymous SNV,PLA2G4F:NM_213600:exon3:c.G277C:p.E93Q,T,D,N,T,N,T
chr15,93588527,93588527,G,A,R010_F,RGMA,Missense_Mutation,NM_001166286,exon3,c.C1006T,p.P336S,SNP,SNVindel,exonic,RGMA,NA,nonsynonymous SNV,"RGMA:NM_001166286:exon3:c.C1006T:p.P336S,RGMA:NM_001166283:exon4:c.C1078T:p.P360S,RGMA:NM_001166287:exon4:c.C1006T:p.P336S,RGMA:NM_001166288:exon4:c.C1006T:p.P336S,RGMA:NM_001166289:exon4:c.C1006T:p.P336S,RGMA:NM_020211:exon4:c.C1054T:p.P352S",T,D,D,D,N,T
chr16,30018269,30018269,A,G,R010_F,DOC2A,Silent,NM_001282068,exon8,c.T715C,p.L239L,SNP,SNVindel,exonic,DOC2A,NA,synonymous SNV,"DOC2A:NM_001282068:exon8:c.T715C:p.L239L,DOC2A:NM_003586:exon8:c.T715C:p.L239L,DOC2A:NM_001282062:exon9:c.T715C:p.L239L,DOC2A:NM_001282063:exon9:c.T715C:p.L239L",NA,NA,NA,NA,NA,NA
chr17,10415429,10415429,C,A,R010_F,MYH1,Missense_Mutation,NM_005963,exon13,c.G1228T,p.G410C,SNP,SNVindel,exonic,MYH1,NA,nonsynonymous SNV,MYH1:NM_005963:exon13:c.G1228T:p.G410C,D,U,D,D,D,D
chr17,28380454,28380454,C,T,R010_F,EFCAB5,Silent,NM_001145053,exon10,c.C1314T,p.N438N,SNP,SNVindel,exonic,EFCAB5,NA,synonymous SNV,"EFCAB5:NM_001145053:exon10:c.C1314T:p.N438N,EFCAB5:NM_198529:exon10:c.C1482T:p.N494N",NA,NA,NA,NA,NA,NA
chr17,67031416,67031416,G,T,R010_F,ABCA9,Missense_Mutation,NM_080283,exon8,c.C1099A,p.P367T,SNP,SNVindel,exonic,ABCA9,NA,nonsynonymous SNV,ABCA9:NM_080283:exon8:c.C1099A:p.P367T,D,D,D,D,D,D
chr18,29046617,29046617,C,A,R010_F,DSG3,Silent,NM_001944,exon11,c.C1536A,p.S512S,SNP,SNVindel,exonic,DSG3,NA,synonymous SNV,DSG3:NM_001944:exon11:c.C1536A:p.S512S,NA,NA,NA,NA,NA,NA
chr18,34298366,34298366,A,C,R010_F,FHOD3,Silent,NM_001281739,exon15,c.A2529C,p.P843P,SNP,SNVindel,exonic,FHOD3,NA,synonymous SNV,"FHOD3:NM_001281739:exon15:c.A2529C:p.P843P,FHOD3:NM_025135:exon16:c.A2580C:p.P860P,FHOD3:NM_001281740:exon19:c.A3105C:p.P1035P",NA,NA,NA,NA,NA,NA
chr19,9073155,9073155,G,A,R010_F,MUC16,Missense_Mutation,NM_024690,exon3,c.C14291T,p.P4764L,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon3:c.C14291T:p.P4764L,T,.,N,T,N,T
chr19,50979607,50979607,G,A,R010_F,FAM71E1,Silent,NM_001308429,exon1,c.C39T,p.P13P,SNP,SNVindel,exonic,FAM71E1,NA,synonymous SNV,"FAM71E1:NM_001308429:exon1:c.C39T:p.P13P,FAM71E1:NM_138411:exon1:c.C39T:p.P13P",NA,NA,NA,NA,NA,NA
chr20,44511267,44511267,C,T,R010_F,ZSWIM1,Silent,NM_080603,exon2,c.C36T,p.A12A,SNP,SNVindel,exonic,ZSWIM1,NA,synonymous SNV,ZSWIM1:NM_080603:exon2:c.C36T:p.A12A,NA,NA,NA,NA,NA,NA
chr21,31933512,31933512,G,A,R010_F,KRTAP19-7,Missense_Mutation,NM_181614,exon1,c.C97T,p.R33C,SNP,SNVindel,exonic,KRTAP19-7,NA,nonsynonymous SNV,KRTAP19-7:NM_181614:exon1:c.C97T:p.R33C,.,.,N,T,N,T
chr22,43614316,43614316,C,G,R010_F,SCUBE1,Silent,NM_173050,exon15,c.G1836C,p.A612A,SNP,SNVindel,exonic,SCUBE1,NA,synonymous SNV,SCUBE1:NM_173050:exon15:c.G1836C:p.A612A,NA,NA,NA,NA,NA,NA
chrX,5810880,5810880,C,A,R010_F,NLGN4X,Missense_Mutation,NM_001282146,exon6,c.G2429T,p.G810V,SNP,SNVindel,exonic,NLGN4X,NA,nonsynonymous SNV,"NLGN4X:NM_001282146:exon6:c.G2429T:p.G810V,NLGN4X:NM_020742:exon6:c.G2429T:p.G810V,NLGN4X:NM_181332:exon6:c.G2429T:p.G810V,NLGN4X:NM_001282145:exon7:c.G2429T:p.G810V",T,N,D,T,N,T
chrX,18234792,18234792,C,T,R010_F,BEND2,Silent,NM_001184767,exon2,c.G87A,p.V29V,SNP,SNVindel,exonic,BEND2,NA,synonymous SNV,"BEND2:NM_001184767:exon2:c.G87A:p.V29V,BEND2:NM_153346:exon2:c.G87A:p.V29V",NA,NA,NA,NA,NA,NA
chrX,132159815,132159815,C,A,R010_F,USP26,Nonsense_Mutation,NM_031907,exon1,c.G2434T,p.E812X,SNP,SNVindel,exonic,USP26,NA,stopgain,USP26:NM_031907:exon1:c.G2434T:p.E812X,.,N,D,.,.,.
chrX,148048444,148048444,C,T,R010_F,AFF2,Missense_Mutation,NM_001170628,exon11,c.C1961T,p.T654M,SNP,SNVindel,exonic,AFF2,NA,nonsynonymous SNV,"AFF2:NM_001170628:exon11:c.C1961T:p.T654M,AFF2:NM_001169122:exon13:c.C2933T:p.T978M,AFF2:NM_001169124:exon13:c.C2933T:p.T978M,AFF2:NM_001169125:exon13:c.C2921T:p.T974M,AFF2:NM_001169123:exon14:c.C3008T:p.T1003M,AFF2:NM_002025:exon14:c.C3038T:p.T1013M",D,N,N,T,N,T
chrX,153031735,153031735,C,A,R010_F,PLXNB3,Missense_Mutation,NM_001163257,exon3,c.C70A,p.Q24K,SNP,SNVindel,exonic,PLXNB3,NA,nonsynonymous SNV,PLXNB3:NM_001163257:exon3:c.C70A:p.Q24K,D,.,N,T,N,T
chr1,877864,877864,G,A,R010_S,SAMD11,Missense_Mutation,NM_152486,exon10,c.G1060A,p.A354T,SNP,SNVindel,exonic,SAMD11,NA,nonsynonymous SNV,SAMD11:NM_152486:exon10:c.G1060A:p.A354T,D,D,D,.,D,T
chr1,896731,896731,G,A,R010_S,KLHL17,Missense_Mutation,NM_198317,exon2,c.G166A,p.A56T,SNP,SNVindel,exonic,KLHL17,NA,nonsynonymous SNV,KLHL17:NM_198317:exon2:c.G166A:p.A56T,T,N,D,T,N,T
chr1,906536,906536,G,A,R010_S,PLEKHN1,Missense_Mutation,NM_001160184,exon7,c.G692A,p.G231D,SNP,SNVindel,exonic,PLEKHN1,NA,nonsynonymous SNV,"PLEKHN1:NM_001160184:exon7:c.G692A:p.G231D,PLEKHN1:NM_001367552:exon7:c.G692A:p.G231D,PLEKHN1:NM_032129:exon7:c.G656A:p.G219D",D,N,N,T,N,T
chr1,1140777,1140777,G,A,R010_S,TNFRSF18,Missense_Mutation,NM_004195,exon2,c.C283T,p.P95S,SNP,SNVindel,exonic,TNFRSF18,NA,nonsynonymous SNV,"TNFRSF18:NM_004195:exon2:c.C283T:p.P95S,TNFRSF18:NM_148901:exon2:c.C283T:p.P95S,TNFRSF18:NM_148902:exon2:c.C283T:p.P95S",D,N,N,T,D,T
chr1,1247421,1247421,G,A,R010_S,INTS11,Silent,NM_001256462,exon14,c.C1420T,p.L474L,SNP,SNVindel,exonic,INTS11,NA,synonymous SNV,"INTS11:NM_001256462:exon14:c.C1420T:p.L474L,INTS11:NM_001256463:exon14:c.C1411T:p.L471L,INTS11:NM_017871:exon16:c.C1714T:p.L572L,INTS11:NM_001256460:exon17:c.C1627T:p.L543L,INTS11:NM_001256456:exon18:c.C1732T:p.L578L",NA,NA,NA,NA,NA,NA
chr1,1309190,1309190,C,T,R010_S,AURKAIP1,Silent,NM_001127229,exon4,c.G591A,p.R197R,SNP,SNVindel,exonic,AURKAIP1,NA,synonymous SNV,"AURKAIP1:NM_001127229:exon4:c.G591A:p.R197R,AURKAIP1:NM_001127230:exon4:c.G591A:p.R197R,AURKAIP1:NM_017900:exon4:c.G591A:p.R197R",NA,NA,NA,NA,NA,NA
chr1,1354780,1354780,G,A,R010_S,ANKRD65,Missense_Mutation,NM_001243535,exon3,c.C359T,p.P120L,SNP,SNVindel,exonic,ANKRD65,NA,nonsynonymous SNV,ANKRD65:NM_001243535:exon3:c.C359T:p.P120L,D,.,N,.,N,T
chr1,1374495,1374495,G,A,R010_S,VWA1,Silent,NM_022834,exon3,c.G666A,p.E222E,SNP,SNVindel,exonic,VWA1,NA,synonymous SNV,VWA1:NM_022834:exon3:c.G666A:p.E222E,NA,NA,NA,NA,NA,NA
chr1,1571831,1571831,G,A,R010_S,CDK11B,Missense_Mutation,NM_033487,exon16,c.C1162T,p.P388S,SNP,SNVindel,exonic,CDK11B,NA,nonsynonymous SNV,"CDK11B:NM_033487:exon16:c.C1162T:p.P388S,CDK11B:NM_033490:exon17:c.C1279T:p.P427S,CDK11B:NM_001291345:exon19:c.C1894T:p.P632S,CDK11B:NM_001787:exon19:c.C1963T:p.P655S,CDK11B:NM_033486:exon19:c.C1924T:p.P642S,CDK11B:NM_033489:exon20:c.C1822T:p.P608S",.,.,D,.,.,.
chr1,1650871,1650871,G,A,R010_S,CDK11A,Missense_Mutation,NM_001291345,exon4,c.C251T,p.A84V,SNP,SNVindel,exonic,CDK11A;CDK11B,NA,nonsynonymous SNV,"CDK11B:NM_001291345:exon4:c.C251T:p.A84V,CDK11A:NM_001313896:exon4:c.C251T:p.A84V,CDK11A:NM_001313982:exon4:c.C251T:p.A84V,CDK11B:NM_001787:exon4:c.C251T:p.A84V,CDK11A:NM_024011:exon4:c.C251T:p.A84V,CDK11B:NM_033486:exon4:c.C251T:p.A84V,CDK11A:NM_033529:exon4:c.C251T:p.A84V,CDK11B:NM_033489:exon5:c.C149T:p.A50V",D,U,D,T,N,T
chr1,1718827,1718827,G,A,R010_S,GNB1,Silent,NM_001282538,exon9,c.C666T,p.D222D,SNP,SNVindel,exonic,GNB1,NA,synonymous SNV,"GNB1:NM_001282538:exon9:c.C666T:p.D222D,GNB1:NM_001282539:exon10:c.C966T:p.D322D,GNB1:NM_002074:exon11:c.C966T:p.D322D",NA,NA,NA,NA,NA,NA
chr1,1849767,1849767,G,A,R010_S,TMEM52,Missense_Mutation,NM_178545,exon4,c.C274T,p.P92S,SNP,SNVindel,exonic,TMEM52,NA,nonsynonymous SNV,TMEM52:NM_178545:exon4:c.C274T:p.P92S,T,N,N,T,D,T
chr1,2338197,2338197,C,T,R010_S,PEX10,Silent,NM_002617,exon4,c.G738A,p.R246R,SNP,SNVindel,exonic,PEX10,NA,synonymous SNV,"PEX10:NM_002617:exon4:c.G738A:p.R246R,PEX10:NM_153818:exon4:c.G798A:p.R266R",NA,NA,NA,NA,NA,NA
chr1,3409214,3409214,G,A,R010_S,MEGF6,Missense_Mutation,NM_001409,exon35,c.C4505T,p.T1502M,SNP,SNVindel,exonic,MEGF6,NA,nonsynonymous SNV,MEGF6:NM_001409:exon35:c.C4505T:p.T1502M,T,N,N,T,D,T
chr1,3692445,3692445,T,C,R010_S,SMIM1,Missense_Mutation,NM_001163724,exon4,c.T197C,p.L66P,SNP,SNVindel,exonic,SMIM1,NA,nonsynonymous SNV,"SMIM1:NM_001163724:exon4:c.T197C:p.L66P,SMIM1:NM_001288583:exon4:c.T197C:p.L66P",D,.,D,.,D,.
chr1,3800281,3800281,G,A,R010_S,DFFB,Silent,NM_001282669,exon7,c.G1065A,p.K355K,SNP,SNVindel,exonic,DFFB,NA,synonymous SNV,"DFFB:NM_001282669:exon7:c.G1065A:p.K355K,DFFB:NM_001320132:exon7:c.G846A:p.K282K,DFFB:NM_001320136:exon7:c.G801A:p.K267K,DFFB:NM_004402:exon7:c.G993A:p.K331K",NA,NA,NA,NA,NA,NA
chr1,3807342,3807342,C,T,R010_S,C1orf174,Missense_Mutation,NM_207356,exon3,c.G409A,p.D137N,SNP,SNVindel,exonic,C1orf174,NA,nonsynonymous SNV,C1orf174:NM_207356:exon3:c.G409A:p.D137N,T,N,N,T,N,T
chr1,5937210,5937210,C,T,R010_S,NPHP4,Silent,NM_001291594,exon16,c.G1224A,p.R408R,SNP,SNVindel,exonic,NPHP4,NA,synonymous SNV,"NPHP4:NM_001291594:exon16:c.G1224A:p.R408R,NPHP4:NM_001291593:exon17:c.G1221A:p.R407R,NPHP4:NM_015102:exon20:c.G2760A:p.R920R",NA,NA,NA,NA,NA,NA
chr1,6155590,6155590,G,A,R010_S,KCNAB2,Missense_Mutation,NM_001199863,exon11,c.G509A,p.G170E,SNP,SNVindel,exonic,KCNAB2,NA,nonsynonymous SNV,"KCNAB2:NM_001199863:exon11:c.G509A:p.G170E,KCNAB2:NM_172130:exon12:c.G668A:p.G223E,KCNAB2:NM_001199860:exon13:c.G710A:p.G237E,KCNAB2:NM_001199861:exon13:c.G710A:p.G237E,KCNAB2:NM_001199862:exon13:c.G854A:p.G285E,KCNAB2:NM_003636:exon13:c.G710A:p.G237E",D,D,D,T,D,T
chr1,6196914,6196914,C,T,R010_S,CHD5,Silent,NM_015557,exon16,c.G2448A,p.Q816Q,SNP,SNVindel,exonic,CHD5,NA,synonymous SNV,CHD5:NM_015557:exon16:c.G2448A:p.Q816Q,NA,NA,NA,NA,NA,NA
chr1,6700106,6700106,G,A,R010_S,DNAJC11,Missense_Mutation,NM_018198,exon11,c.C1109T,p.A370V,SNP,SNVindel,exonic,DNAJC11,NA,nonsynonymous SNV,DNAJC11:NM_018198:exon11:c.C1109T:p.A370V,D,D,D,T,D,T
chr1,6705110,6705110,C,T,R010_S,DNAJC11,Missense_Mutation,NM_018198,exon9,c.G971A,p.G324E,SNP,SNVindel,exonic,DNAJC11,NA,nonsynonymous SNV,DNAJC11:NM_018198:exon9:c.G971A:p.G324E,D,D,D,T,D,T
chr1,7721890,7721890,C,T,R010_S,CAMTA1,Missense_Mutation,NM_001349608,exon7,c.C679T,p.P227S,SNP,SNVindel,exonic,CAMTA1,NA,nonsynonymous SNV,"CAMTA1:NM_001349608:exon7:c.C679T:p.P227S,CAMTA1:NM_001349612:exon7:c.C679T:p.P227S,CAMTA1:NM_001349609:exon8:c.C769T:p.P257S,CAMTA1:NM_001349610:exon8:c.C769T:p.P257S,CAMTA1:NM_015215:exon8:c.C769T:p.P257S",D,D,D,T,D,T
chr1,8378180,8378180,G,A,R010_S,SLC45A1,Silent,NM_001080397,exon1,c.G12A,p.Q4Q,SNP,SNVindel,exonic,SLC45A1,NA,synonymous SNV,SLC45A1:NM_001080397:exon1:c.G12A:p.Q4Q,NA,NA,NA,NA,NA,NA
chr1,8421296,8421296,C,T,R010_S,RERE,Silent,NM_001042682,exon8,c.G609A,p.G203G,SNP,SNVindel,exonic,RERE,NA,synonymous SNV,"RERE:NM_001042682:exon8:c.G609A:p.G203G,RERE:NM_001042681:exon18:c.G2271A:p.G757G,RERE:NM_012102:exon19:c.G2271A:p.G757G",NA,NA,NA,NA,NA,NA
chr1,8421336,8421336,G,A,R010_S,RERE,Missense_Mutation,NM_001042682,exon8,c.C569T,p.P190L,SNP,SNVindel,exonic,RERE,NA,nonsynonymous SNV,"RERE:NM_001042682:exon8:c.C569T:p.P190L,RERE:NM_001042681:exon18:c.C2231T:p.P744L,RERE:NM_012102:exon19:c.C2231T:p.P744L",D,.,D,T,D,T
chr1,8921471,8921471,C,T,R010_S,ENO1,Missense_Mutation,NM_001201483,exon11,c.G974A,p.G325D,SNP,SNVindel,exonic,ENO1,NA,nonsynonymous SNV,"ENO1:NM_001201483:exon11:c.G974A:p.G325D,ENO1:NM_001353346:exon12:c.G1253A:p.G418D,ENO1:NM_001428:exon12:c.G1253A:p.G418D",D,N,D,T,D,T
chr1,9775614,9775614,G,A,R010_S,PIK3CD,Missense_Mutation,NM_001350235,exon3,c.G157A,p.A53T,SNP,SNVindel,exonic,PIK3CD,NA,nonsynonymous SNV,"PIK3CD:NM_001350235:exon3:c.G157A:p.A53T,PIK3CD:NM_001350234:exon4:c.G157A:p.A53T,PIK3CD:NM_005026:exon4:c.G157A:p.A53T",D,D,D,T,D,D
chr1,9796049,9796049,G,A,R010_S,CLSTN1,Missense_Mutation,NM_001302883,exon11,c.C1571T,p.T524I,SNP,SNVindel,exonic,CLSTN1,NA,nonsynonymous SNV,"CLSTN1:NM_001302883:exon11:c.C1571T:p.T524I,CLSTN1:NM_014944:exon11:c.C1598T:p.T533I,CLSTN1:NM_001009566:exon12:c.C1628T:p.T543I",D,D,D,T,D,T
chr1,10363406,10363406,G,A,R010_S,KIF1B,Silent,NM_001365953,exon21,c.G2163A,p.R721R,SNP,SNVindel,exonic,KIF1B,NA,synonymous SNV,"KIF1B:NM_001365953:exon21:c.G2163A:p.R721R,KIF1B:NM_183416:exon21:c.G2163A:p.R721R",NA,NA,NA,NA,NA,NA
chr1,11158170,11158170,C,T,R010_S,EXOSC10,Missense_Mutation,NM_001001998,exon2,c.G155A,p.G52D,SNP,SNVindel,exonic,EXOSC10,NA,nonsynonymous SNV,"EXOSC10:NM_001001998:exon2:c.G155A:p.G52D,EXOSC10:NM_002685:exon2:c.G155A:p.G52D",D,D,D,.,N,T
chr1,11297909,11297909,C,T,R010_S,MTOR,Missense_Mutation,NM_004958,exon13,c.G2199A,p.M733I,SNP,SNVindel,exonic,MTOR,NA,nonsynonymous SNV,MTOR:NM_004958:exon13:c.G2199A:p.M733I,T,D,D,T,N,T
chr1,12428547,12428547,C,T,R010_S,VPS13D,Silent,NM_018156,exon52,c.C10398T,p.F3466F,SNP,SNVindel,exonic,VPS13D,NA,synonymous SNV,"VPS13D:NM_018156:exon52:c.C10398T:p.F3466F,VPS13D:NM_015378:exon53:c.C10473T:p.F3491F",NA,NA,NA,NA,NA,NA
chr1,14108984,14108984,C,T,R010_S,PRDM2,Missense_Mutation,NM_001007257,exon3,c.C4091T,p.S1364F,SNP,SNVindel,exonic,PRDM2,NA,nonsynonymous SNV,"PRDM2:NM_001007257:exon3:c.C4091T:p.S1364F,PRDM2:NM_012231:exon8:c.C4694T:p.S1565F,PRDM2:NM_015866:exon8:c.C4694T:p.S1565F",D,N,D,T,N,T
chr1,15708606,15708606,G,A,R010_S,FHAD1,Missense_Mutation,NM_052929,exon30,c.G4039A,p.A1347T,SNP,SNVindel,exonic,FHAD1,NA,nonsynonymous SNV,FHAD1:NM_052929:exon30:c.G4039A:p.A1347T,D,.,D,T,N,T
chr1,15808812,15808812,G,A,R010_S,CELA2B,Missense_Mutation,NM_015849,exon4,c.G280A,p.E94K,SNP,SNVindel,exonic,CELA2B,NA,nonsynonymous SNV,CELA2B:NM_015849:exon4:c.G280A:p.E94K,D,U,N,D,D,D
chr1,15911270,15911270,G,A,R010_S,AGMAT,Nonsense_Mutation,NM_024758,exon1,c.C193T,p.Q65X,SNP,SNVindel,exonic,AGMAT,NA,stopgain,AGMAT:NM_024758:exon1:c.C193T:p.Q65X,.,D,A,.,.,.
chr1,16134093,16134093,C,T,R010_S,UQCRHL,Missense_Mutation,NM_001089591,exon1,c.G52A,p.E18K,SNP,SNVindel,exonic,UQCRHL,NA,nonsynonymous SNV,UQCRHL:NM_001089591:exon1:c.G52A:p.E18K,.,.,.,.,.,.
chr1,16245915,16245915,G,A,R010_S,SPEN,Missense_Mutation,NM_015001,exon8,c.G1538A,p.S513N,SNP,SNVindel,exonic,SPEN,NA,nonsynonymous SNV,SPEN:NM_015001:exon8:c.G1538A:p.S513N,D,.,D,T,D,T
chr1,16258533,16258533,G,A,R010_S,SPEN,Missense_Mutation,NM_015001,exon11,c.G5798A,p.R1933K,SNP,SNVindel,exonic,SPEN,NA,nonsynonymous SNV,SPEN:NM_015001:exon11:c.G5798A:p.R1933K,D,.,D,T,N,T
chr1,16271001,16271001,G,A,R010_S,ZBTB17,Missense_Mutation,NM_001242884,exon8,c.C919T,p.R307C,SNP,SNVindel,exonic,ZBTB17,NA,nonsynonymous SNV,"ZBTB17:NM_001242884:exon8:c.C919T:p.R307C,ZBTB17:NM_001324137:exon8:c.C937T:p.R313C,ZBTB17:NM_001324138:exon8:c.C976T:p.R326C,ZBTB17:NM_001287603:exon9:c.C1165T:p.R389C,ZBTB17:NM_001287604:exon9:c.C937T:p.R313C,ZBTB17:NM_003443:exon9:c.C1165T:p.R389C",D,D,D,T,D,T
chr1,16475487,16475487,C,T,R010_S,EPHA2,Missense_Mutation,NM_001329090,exon2,c.G47A,p.C16Y,SNP,SNVindel,exonic,EPHA2,NA,nonsynonymous SNV,"EPHA2:NM_001329090:exon2:c.G47A:p.C16Y,EPHA2:NM_004431:exon3:c.G209A:p.C70Y",D,D,D,T,D,D
chr1,17316459,17316459,G,A,R010_S,ATP13A2,Missense_Mutation,NM_001141973,exon22,c.C2437T,p.P813S,SNP,SNVindel,exonic,ATP13A2,NA,nonsynonymous SNV,"ATP13A2:NM_001141973:exon22:c.C2437T:p.P813S,ATP13A2:NM_022089:exon22:c.C2452T:p.P818S",T,N,N,D,N,T
chr1,17402248,17402248,C,T,R010_S,PADI2,Missense_Mutation,NM_007365,exon12,c.G1381A,p.E461K,SNP,SNVindel,exonic,PADI2,NA,nonsynonymous SNV,PADI2:NM_007365:exon12:c.G1381A:p.E461K,T,D,D,T,N,T
chr1,17418997,17418997,C,T,R010_S,PADI2,Silent,NM_007365,exon6,c.G561A,p.R187R,SNP,SNVindel,exonic,PADI2,NA,synonymous SNV,PADI2:NM_007365:exon6:c.G561A:p.R187R,NA,NA,NA,NA,NA,NA
chr1,18807887,18807887,C,T,R010_S,KLHDC7A,Missense_Mutation,NM_152375,exon1,c.C412T,p.P138S,SNP,SNVindel,exonic,KLHDC7A,NA,nonsynonymous SNV,KLHDC7A:NM_152375:exon1:c.C412T:p.P138S,T,.,N,T,N,T
chr1,18808475,18808475,G,A,R010_S,KLHDC7A,Missense_Mutation,NM_152375,exon1,c.G1000A,p.G334S,SNP,SNVindel,exonic,KLHDC7A,NA,nonsynonymous SNV,KLHDC7A:NM_152375:exon1:c.G1000A:p.G334S,T,N,N,T,N,T
chr1,19062380,19062380,C,T,R010_S,PAX7,Silent,NM_002584,exon8,c.C1410T,p.C470C,SNP,SNVindel,exonic,PAX7,NA,synonymous SNV,"PAX7:NM_002584:exon8:c.C1410T:p.C470C,PAX7:NM_013945:exon8:c.C1404T:p.C468C",NA,NA,NA,NA,NA,NA
chr1,19166662,19166662,G,A,R010_S,TAS1R2,Missense_Mutation,NM_152232,exon6,c.C1951T,p.R651C,SNP,SNVindel,exonic,TAS1R2,NA,nonsynonymous SNV,TAS1R2:NM_152232:exon6:c.C1951T:p.R651C,D,D,D,D,D,D
chr1,19184002,19184002,G,A,R010_S,TAS1R2,Silent,NM_152232,exon2,c.C306T,p.C102C,SNP,SNVindel,exonic,TAS1R2,NA,synonymous SNV,TAS1R2:NM_152232:exon2:c.C306T:p.C102C,NA,NA,NA,NA,NA,NA
chr1,19282256,19282256,C,T,R010_S,IFFO2,Missense_Mutation,NM_001136265,exon1,c.G571A,p.V191M,SNP,SNVindel,exonic,IFFO2,NA,nonsynonymous SNV,IFFO2:NM_001136265:exon1:c.G571A:p.V191M,D,D,D,T,N,T
chr1,19420536,19420536,C,T,R010_S,UBR4,Missense_Mutation,NM_020765,exon95,c.G13844A,p.G4615D,SNP,SNVindel,exonic,UBR4,NA,nonsynonymous SNV,UBR4:NM_020765:exon95:c.G13844A:p.G4615D,T,D,D,T,N,T
chr1,19487606,19487606,G,A,R010_S,UBR4,Silent,NM_020765,exon38,c.C5211T,p.S1737S,SNP,SNVindel,exonic,UBR4,NA,synonymous SNV,UBR4:NM_020765:exon38:c.C5211T:p.S1737S,NA,NA,NA,NA,NA,NA
chr1,19500843,19500843,C,T,R010_S,UBR4,Silent,NM_020765,exon22,c.G2952A,p.R984R,SNP,SNVindel,exonic,UBR4,NA,synonymous SNV,UBR4:NM_020765:exon22:c.G2952A:p.R984R,NA,NA,NA,NA,NA,NA
chr1,20640839,20640839,C,T,R010_S,VWA5B1,Missense_Mutation,NM_001039500,exon4,c.C317T,p.S106F,SNP,SNVindel,exonic,VWA5B1,NA,nonsynonymous SNV,VWA5B1:NM_001039500:exon4:c.C317T:p.S106F,D,N,D,T,N,T
chr1,21586791,21586791,G,A,R010_S,ECE1,Silent,NM_001113347,exon3,c.C552T,p.A184A,SNP,SNVindel,exonic,ECE1,NA,synonymous SNV,"ECE1:NM_001113347:exon3:c.C552T:p.A184A,ECE1:NM_001113349:exon4:c.C579T:p.A193A,ECE1:NM_001113348:exon5:c.C540T:p.A180A,ECE1:NM_001397:exon5:c.C588T:p.A196A",NA,NA,NA,NA,NA,NA
chr1,21936673,21936673,G,A,R010_S,RAP1GAP,Silent,NM_001145658,exon14,c.C1131T,p.F377F,SNP,SNVindel,exonic,RAP1GAP,NA,synonymous SNV,"RAP1GAP:NM_001145658:exon14:c.C1131T:p.F377F,RAP1GAP:NM_002885:exon14:c.C939T:p.F313F,RAP1GAP:NM_001145657:exon15:c.C939T:p.F313F,RAP1GAP:NM_001330383:exon15:c.C939T:p.F313F,RAP1GAP:NM_001350524:exon16:c.C939T:p.F313F,RAP1GAP:NM_001350525:exon16:c.C939T:p.F313F,RAP1GAP:NM_001350527:exon16:c.C939T:p.F313F,RAP1GAP:NM_001350528:exon16:c.C939T:p.F313F,RAP1GAP:NM_001350526:exon17:c.C939T:p.F313F",NA,NA,NA,NA,NA,NA
chr1,21936717,21936717,C,T,R010_S,RAP1GAP,Missense_Mutation,NM_001145658,exon14,c.G1087A,p.D363N,SNP,SNVindel,exonic,RAP1GAP,NA,nonsynonymous SNV,"RAP1GAP:NM_001145658:exon14:c.G1087A:p.D363N,RAP1GAP:NM_002885:exon14:c.G895A:p.D299N,RAP1GAP:NM_001145657:exon15:c.G895A:p.D299N,RAP1GAP:NM_001330383:exon15:c.G895A:p.D299N,RAP1GAP:NM_001350524:exon16:c.G895A:p.D299N,RAP1GAP:NM_001350525:exon16:c.G895A:p.D299N,RAP1GAP:NM_001350527:exon16:c.G895A:p.D299N,RAP1GAP:NM_001350528:exon16:c.G895A:p.D299N,RAP1GAP:NM_001350526:exon17:c.G895A:p.D299N",T,D,D,D,D,D
chr1,22055186,22055186,C,T,R010_S,USP48,Missense_Mutation,NM_001032730,exon11,c.G1327A,p.D443N,SNP,SNVindel,exonic,USP48,NA,nonsynonymous SNV,"USP48:NM_001032730:exon11:c.G1327A:p.D443N,USP48:NM_001330394:exon11:c.G1327A:p.D443N,USP48:NM_001350164:exon11:c.G1324A:p.D442N,USP48:NM_001350166:exon11:c.G1324A:p.D442N,USP48:NM_001350167:exon11:c.G1324A:p.D442N,USP48:NM_001350168:exon11:c.G1327A:p.D443N,USP48:NM_032236:exon11:c.G1327A:p.D443N",D,D,D,T,N,T
chr1,22063112,22063112,G,A,R010_S,USP48,Missense_Mutation,NM_001032730,exon9,c.C998T,p.S333F,SNP,SNVindel,exonic,USP48,NA,nonsynonymous SNV,"USP48:NM_001032730:exon9:c.C998T:p.S333F,USP48:NM_001330394:exon9:c.C998T:p.S333F,USP48:NM_001350164:exon9:c.C998T:p.S333F,USP48:NM_001350166:exon9:c.C998T:p.S333F,USP48:NM_001350167:exon9:c.C998T:p.S333F,USP48:NM_001350168:exon9:c.C998T:p.S333F,USP48:NM_032236:exon9:c.C998T:p.S333F",D,N,N,T,D,T
chr1,22172699,22172699,C,T,R010_S,HSPG2,Missense_Mutation,NM_001291860,exon64,c.G8369A,p.G2790D,SNP,SNVindel,exonic,HSPG2,NA,nonsynonymous SNV,"HSPG2:NM_001291860:exon64:c.G8369A:p.G2790D,HSPG2:NM_005529:exon64:c.G8366A:p.G2789D",D,N,D,T,D,D
chr1,22903316,22903316,C,T,R010_S,EPHA8,Missense_Mutation,NM_001006943,exon3,c.C766T,p.P256S,SNP,SNVindel,exonic,EPHA8,NA,nonsynonymous SNV,"EPHA8:NM_001006943:exon3:c.C766T:p.P256S,EPHA8:NM_020526:exon3:c.C766T:p.P256S",D,D,D,D,D,D
chr1,23189530,23189530,G,A,R010_S,EPHB2,Missense_Mutation,NM_001309192,exon4,c.G812A,p.G271D,SNP,SNVindel,exonic,EPHB2,NA,nonsynonymous SNV,"EPHB2:NM_001309192:exon4:c.G812A:p.G271D,EPHB2:NM_001309193:exon4:c.G812A:p.G271D,EPHB2:NM_004442:exon4:c.G812A:p.G271D,EPHB2:NM_017449:exon4:c.G812A:p.G271D",D,U,D,T,N,D
chr1,24075556,24075556,G,A,R010_S,ELOA,Missense_Mutation,NM_003198,exon2,c.G199A,p.D67N,SNP,SNVindel,exonic,ELOA,NA,nonsynonymous SNV,ELOA:NM_003198:exon2:c.G199A:p.D67N,D,N,D,T,D,T
chr1,24973223,24973223,C,T,R010_S,SRRM1,Silent,NM_001303448,exon3,c.C177T,p.I59I,SNP,SNVindel,exonic,SRRM1,NA,synonymous SNV,"SRRM1:NM_001303448:exon3:c.C177T:p.I59I,SRRM1:NM_001303449:exon3:c.C60T:p.I20I,SRRM1:NM_001366569:exon3:c.C177T:p.I59I,SRRM1:NM_001366575:exon3:c.C177T:p.I59I,SRRM1:NM_001366576:exon3:c.C177T:p.I59I,SRRM1:NM_001366577:exon3:c.C177T:p.I59I,SRRM1:NM_001366581:exon3:c.C177T:p.I59I,SRRM1:NM_001366582:exon3:c.C177T:p.I59I,SRRM1:NM_001366588:exon3:c.C177T:p.I59I,SRRM1:NM_001366589:exon3:c.C177T:p.I59I,SRRM1:NM_001366592:exon3:c.C177T:p.I59I,SRRM1:NM_001366595:exon3:c.C177T:p.I59I,SRRM1:NM_001366596:exon3:c.C60T:p.I20I,SRRM1:NM_001366597:exon3:c.C60T:p.I20I,SRRM1:NM_005839:exon3:c.C177T:p.I59I",NA,NA,NA,NA,NA,NA
chr1,25558685,25558685,C,T,R010_S,SYF2,Silent,NM_015484,exon2,c.G42A,p.A14A,SNP,SNVindel,exonic,SYF2,NA,synonymous SNV,"SYF2:NM_015484:exon2:c.G42A:p.A14A,SYF2:NM_207170:exon2:c.G42A:p.A14A",NA,NA,NA,NA,NA,NA
chr1,26152845,26152845,C,T,R010_S,MTFR1L,Missense_Mutation,NM_001099625,exon4,c.C182T,p.T61I,SNP,SNVindel,exonic,MTFR1L,NA,nonsynonymous SNV,"MTFR1L:NM_001099625:exon4:c.C182T:p.T61I,MTFR1L:NM_001099626:exon4:c.C182T:p.T61I,MTFR1L:NM_001099627:exon4:c.C182T:p.T61I,MTFR1L:NM_019557:exon4:c.C182T:p.T61I",D,D,D,T,D,T
chr1,26487961,26487961,C,T,R010_S,FAM110D,Missense_Mutation,NM_024869,exon2,c.C179T,p.P60L,SNP,SNVindel,exonic,FAM110D,NA,nonsynonymous SNV,FAM110D:NM_024869:exon2:c.C179T:p.P60L,D,U,N,T,D,T
chr1,26644557,26644557,G,A,R010_S,CD52,Missense_Mutation,NM_001803,exon1,c.G49A,p.V17I,SNP,SNVindel,exonic,CD52,NA,nonsynonymous SNV,CD52:NM_001803:exon1:c.G49A:p.V17I,T,N,N,T,N,T
chr1,26672073,26672073,G,A,R010_S,CRYBG2,Missense_Mutation,NM_001039775,exon2,c.C1076T,p.T359I,SNP,SNVindel,exonic,CRYBG2,NA,nonsynonymous SNV,CRYBG2:NM_001039775:exon2:c.C1076T:p.T359I,D,.,N,T,D,T
chr1,26877950,26877950,G,A,R010_S,RPS6KA1,Missense_Mutation,NM_001006665,exon4,c.G397A,p.V133M,SNP,SNVindel,exonic,RPS6KA1,NA,nonsynonymous SNV,"RPS6KA1:NM_001006665:exon4:c.G397A:p.V133M,RPS6KA1:NM_001330441:exon4:c.G322A:p.V108M,RPS6KA1:NM_002953:exon5:c.G370A:p.V124M",D,D,D,T,N,T
chr1,26887575,26887575,G,A,R010_S,RPS6KA1,Missense_Mutation,NM_001006665,exon15,c.G1408A,p.E470K,SNP,SNVindel,exonic,RPS6KA1,NA,nonsynonymous SNV,"RPS6KA1:NM_001006665:exon15:c.G1408A:p.E470K,RPS6KA1:NM_001330441:exon15:c.G1333A:p.E445K,RPS6KA1:NM_002953:exon16:c.G1381A:p.E461K",D,D,D,T,D,T
chr1,27673990,27673990,G,A,R010_S,SYTL1,Silent,NM_001193308,exon3,c.G270A,p.Q90Q,SNP,SNVindel,exonic,SYTL1,NA,synonymous SNV,"SYTL1:NM_001193308:exon3:c.G270A:p.Q90Q,SYTL1:NM_032872:exon3:c.G270A:p.Q90Q",NA,NA,NA,NA,NA,NA
chr1,27700921,27700921,C,T,R010_S,FCN3,Missense_Mutation,NM_003665,exon2,c.G113A,p.S38N,SNP,SNVindel,exonic,FCN3,NA,nonsynonymous SNV,"FCN3:NM_003665:exon2:c.G113A:p.S38N,FCN3:NM_173452:exon2:c.G113A:p.S38N",T,U,N,T,N,T
chr1,27877144,27877144,C,T,R010_S,AHDC1,Missense_Mutation,NM_001029882,exon6,c.G1483A,p.V495M,SNP,SNVindel,exonic,AHDC1,NA,nonsynonymous SNV,AHDC1:NM_001029882:exon6:c.G1483A:p.V495M,D,U,D,T,N,T
chr1,27942288,27942288,G,A,R010_S,FGR,Silent,NM_001042729,exon8,c.C750T,p.G250G,SNP,SNVindel,exonic,FGR,NA,synonymous SNV,"FGR:NM_001042729:exon8:c.C750T:p.G250G,FGR:NM_001042747:exon8:c.C750T:p.G250G,FGR:NM_005248:exon8:c.C750T:p.G250G",NA,NA,NA,NA,NA,NA
chr1,28271802,28271802,C,T,R010_S,SMPDL3B,Missense_Mutation,NM_001009568,exon2,c.C121T,p.P41S,SNP,SNVindel,exonic,SMPDL3B,NA,nonsynonymous SNV,"SMPDL3B:NM_001009568:exon2:c.C121T:p.P41S,SMPDL3B:NM_014474:exon2:c.C121T:p.P41S",T,N,N,D,D,T
chr1,28476693,28476693,G,A,R010_S,PTAFR,Silent,NM_000952,exon2,c.C840T,p.C280C,SNP,SNVindel,exonic,PTAFR,NA,synonymous SNV,"PTAFR:NM_000952:exon2:c.C840T:p.C280C,PTAFR:NM_001164722:exon2:c.C840T:p.C280C,PTAFR:NM_001164721:exon3:c.C840T:p.C280C,PTAFR:NM_001164723:exon3:c.C840T:p.C280C",NA,NA,NA,NA,NA,NA
chr1,28599292,28599292,G,A,R010_S,SESN2,Silent,NM_031459,exon5,c.G738A,p.L246L,SNP,SNVindel,exonic,SESN2,NA,synonymous SNV,SESN2:NM_031459:exon5:c.G738A:p.L246L,NA,NA,NA,NA,NA,NA
chr1,28793220,28793220,C,T,R010_S,PHACTR4,Missense_Mutation,NM_023923,exon5,c.C794T,p.A265V,SNP,SNVindel,exonic,PHACTR4,NA,nonsynonymous SNV,"PHACTR4:NM_023923:exon5:c.C794T:p.A265V,PHACTR4:NM_001048183:exon6:c.C764T:p.A255V,PHACTR4:NM_001350158:exon7:c.C788T:p.A263V,PHACTR4:NM_001350160:exon7:c.C764T:p.A255V,PHACTR4:NM_001350161:exon7:c.C716T:p.A239V,PHACTR4:NM_001350159:exon8:c.C788T:p.A263V",D,N,D,T,N,T
chr1,28862496,28862496,G,A,R010_S,RCC1,Missense_Mutation,NM_001269,exon7,c.G775A,p.G259S,SNP,SNVindel,exonic,RCC1,NA,nonsynonymous SNV,"RCC1:NM_001269:exon7:c.G775A:p.G259S,RCC1:NM_001048194:exon8:c.G868A:p.G290S,RCC1:NM_001048195:exon8:c.G826A:p.G276S,RCC1:NM_001048199:exon9:c.G775A:p.G259S",D,D,D,D,D,D
chr1,28920230,28920230,G,A,R010_S,RAB42,Silent,NM_001193532,exon2,c.G258A,p.R86R,SNP,SNVindel,exonic,RAB42,NA,synonymous SNV,RAB42:NM_001193532:exon2:c.G258A:p.R86R,NA,NA,NA,NA,NA,NA
chr1,29064836,29064836,C,T,R010_S,YTHDF2,Missense_Mutation,NM_016258,exon3,c.C118T,p.P40S,SNP,SNVindel,exonic,YTHDF2,NA,nonsynonymous SNV,"YTHDF2:NM_016258:exon3:c.C118T:p.P40S,YTHDF2:NM_001173128:exon4:c.C118T:p.P40S",T,D,D,T,N,T
chr1,29442214,29442214,C,T,R010_S,EPB41,Missense_Mutation,NM_203343,exon16,c.C2233T,p.L745F,SNP,SNVindel,exonic,EPB41,NA,nonsynonymous SNV,"EPB41:NM_203343:exon16:c.C2233T:p.L745F,EPB41:NM_001166007:exon17:c.C1711T:p.L571F,EPB41:NM_004437:exon18:c.C1672T:p.L558F,EPB41:NM_001166005:exon20:c.C2500T:p.L834F,EPB41:NM_203342:exon20:c.C1831T:p.L611F",D,D,D,D,D,D
chr1,29448052,29448052,G,A,R010_S,TMEM200B,Silent,NM_001003682,exon2,c.C289T,p.L97L,SNP,SNVindel,exonic,TMEM200B,NA,synonymous SNV,"TMEM200B:NM_001003682:exon2:c.C289T:p.L97L,TMEM200B:NM_001171868:exon2:c.C289T:p.L97L",NA,NA,NA,NA,NA,NA
chr1,31349589,31349589,G,A,R010_S,SDC3,Missense_Mutation,NM_014654,exon3,c.C680T,p.P227L,SNP,SNVindel,exonic,SDC3,NA,nonsynonymous SNV,SDC3:NM_014654:exon3:c.C680T:p.P227L,T,D,D,T,N,T
chr1,32151285,32151285,C,T,R010_S,COL16A1,Silent,NM_001856,exon29,c.G1971A,p.E657E,SNP,SNVindel,exonic,COL16A1,NA,synonymous SNV,COL16A1:NM_001856:exon29:c.G1971A:p.E657E,NA,NA,NA,NA,NA,NA
chr1,32196724,32196724,C,T,R010_S,ADGRB2,Missense_Mutation,NM_001294336,exon28,c.G3958A,p.V1320M,SNP,SNVindel,exonic,ADGRB2,NA,nonsynonymous SNV,"ADGRB2:NM_001294336:exon28:c.G3958A:p.V1320M,ADGRB2:NM_001294335:exon29:c.G4057A:p.V1353M,ADGRB2:NM_001364857:exon29:c.G4057A:p.V1353M",D,N,D,T,N,T
chr1,32205764,32205764,C,T,R010_S,ADGRB2,Missense_Mutation,NM_001294335,exon13,c.G2005A,p.V669M,SNP,SNVindel,exonic,ADGRB2,NA,nonsynonymous SNV,"ADGRB2:NM_001294335:exon13:c.G2005A:p.V669M,ADGRB2:NM_001294336:exon13:c.G2005A:p.V669M,ADGRB2:NM_001364857:exon13:c.G2005A:p.V669M",D,N,D,T,N,T
chr1,32257830,32257830,G,A,R010_S,SPOCD1,Missense_Mutation,NM_001281988,exon14,c.C1427T,p.P476L,SNP,SNVindel,exonic,SPOCD1,NA,nonsynonymous SNV,"SPOCD1:NM_001281988:exon14:c.C1427T:p.P476L,SPOCD1:NM_001281987:exon15:c.C2948T:p.P983L,SPOCD1:NM_144569:exon15:c.C2948T:p.P983L",T,.,D,T,D,T
chr1,32263847,32263847,G,A,R010_S,SPOCD1,Silent,NM_001281988,exon8,c.C585T,p.P195P,SNP,SNVindel,exonic,SPOCD1,NA,synonymous SNV,"SPOCD1:NM_001281988:exon8:c.C585T:p.P195P,SPOCD1:NM_001281987:exon9:c.C2106T:p.P702P,SPOCD1:NM_144569:exon9:c.C2106T:p.P702P",NA,NA,NA,NA,NA,NA
chr1,33059040,33059040,C,T,R010_S,ZBTB8A,Nonsense_Mutation,NM_001040441,exon3,c.C508T,p.Q170X,SNP,SNVindel,exonic,ZBTB8A,NA,stopgain,"ZBTB8A:NM_001040441:exon3:c.C508T:p.Q170X,ZBTB8A:NM_001291496:exon3:c.C508T:p.Q170X",.,U,A,.,.,.
chr1,33282832,33282832,G,A,R010_S,YARS,Missense_Mutation,NM_003680,exon1,c.C14T,p.P5L,SNP,SNVindel,exonic,YARS,NA,nonsynonymous SNV,YARS:NM_003680:exon1:c.C14T:p.P5L,T,N,N,T,N,T
chr1,33613021,33613021,G,A,R010_S,TRIM62,Silent,NM_001330483,exon5,c.C822T,p.N274N,SNP,SNVindel,exonic,TRIM62,NA,synonymous SNV,"TRIM62:NM_001330483:exon5:c.C822T:p.N274N,TRIM62:NM_018207:exon5:c.C1185T:p.N395N",NA,NA,NA,NA,NA,NA
chr1,33999439,33999439,G,A,R010_S,CSMD2,Silent,NM_052896,exon62,c.C9516T,p.C3172C,SNP,SNVindel,exonic,CSMD2,NA,synonymous SNV,"CSMD2:NM_052896:exon62:c.C9516T:p.C3172C,CSMD2:NM_001281956:exon63:c.C9948T:p.C3316C",NA,NA,NA,NA,NA,NA
chr1,35332730,35332730,C,T,R010_S,DLGAP3,Silent,NM_001080418,exon11,c.G2640A,p.Q880Q,SNP,SNVindel,exonic,DLGAP3,NA,synonymous SNV,DLGAP3:NM_001080418:exon11:c.G2640A:p.Q880Q,NA,NA,NA,NA,NA,NA
chr1,35447700,35447700,C,T,R010_S,TMEM35B,Missense_Mutation,NM_001195156,exon3,c.G310A,p.A104T,SNP,SNVindel,exonic,TMEM35B,NA,nonsynonymous SNV,TMEM35B:NM_001195156:exon3:c.G310A:p.A104T,T,.,N,.,N,T
chr1,35570005,35570005,C,T,R010_S,ZMYM1,Missense_Mutation,NM_001319955,exon4,c.C304T,p.P102S,SNP,SNVindel,exonic,ZMYM1,NA,nonsynonymous SNV,"ZMYM1:NM_001319955:exon4:c.C304T:p.P102S,ZMYM1:NM_001289089:exon5:c.C529T:p.P177S,ZMYM1:NM_024772:exon5:c.C529T:p.P177S,ZMYM1:NM_001289088:exon6:c.C529T:p.P177S,ZMYM1:NM_001289090:exon6:c.C529T:p.P177S",D,N,N,T,D,T
chr1,35658326,35658326,G,A,R010_S,SFPQ,Missense_Mutation,NM_005066,exon1,c.C325T,p.P109S,SNP,SNVindel,exonic,SFPQ,NA,nonsynonymous SNV,SFPQ:NM_005066:exon1:c.C325T:p.P109S,.,N,N,T,N,T
chr1,36181302,36181302,G,A,R010_S,C1orf216,Silent,NM_001348691,exon2,c.C621T,p.D207D,SNP,SNVindel,exonic,C1orf216,NA,synonymous SNV,"C1orf216:NM_001348691:exon2:c.C621T:p.D207D,C1orf216:NM_152374:exon2:c.C621T:p.D207D",NA,NA,NA,NA,NA,NA
chr1,36509135,36509135,C,T,R010_S,AGO3,Missense_Mutation,NM_177422,exon15,c.C1558T,p.H520Y,SNP,SNVindel,exonic,AGO3,NA,nonsynonymous SNV,"AGO3:NM_177422:exon15:c.C1558T:p.H520Y,AGO3:NM_024852:exon17:c.C2260T:p.H754Y",D,D,D,T,D,D
chr1,36752232,36752232,C,T,R010_S,THRAP3,Missense_Mutation,NM_001321473,exon4,c.C401T,p.S134F,SNP,SNVindel,exonic,THRAP3,NA,nonsynonymous SNV,"THRAP3:NM_001321473:exon4:c.C401T:p.S134F,THRAP3:NM_005119:exon4:c.C401T:p.S134F,THRAP3:NM_001321471:exon5:c.C401T:p.S134F",D,D,D,T,D,T
chr1,36932120,36932120,G,A,R010_S,CSF3R,Silent,NM_000760,exon17,c.C2349T,p.S783S,SNP,SNVindel,exonic,CSF3R,NA,synonymous SNV,"CSF3R:NM_000760:exon17:c.C2349T:p.S783S,CSF3R:NM_156039:exon17:c.C2430T:p.S810S",NA,NA,NA,NA,NA,NA
chr1,36934816,36934816,G,A,R010_S,CSF3R,Missense_Mutation,NM_000760,exon12,c.C1517T,p.P506L,SNP,SNVindel,exonic,CSF3R,NA,nonsynonymous SNV,"CSF3R:NM_000760:exon12:c.C1517T:p.P506L,CSF3R:NM_156039:exon12:c.C1517T:p.P506L,CSF3R:NM_172313:exon12:c.C1517T:p.P506L",D,D,D,T,D,T
chr1,36939202,36939202,G,A,R010_S,CSF3R,Silent,NM_000760,exon6,c.C507T,p.T169T,SNP,SNVindel,exonic,CSF3R,NA,synonymous SNV,"CSF3R:NM_000760:exon6:c.C507T:p.T169T,CSF3R:NM_156039:exon6:c.C507T:p.T169T,CSF3R:NM_172313:exon6:c.C507T:p.T169T",NA,NA,NA,NA,NA,NA
chr1,37267574,37267574,G,A,R010_S,GRIK3,Missense_Mutation,NM_000831,exon16,c.C2638T,p.P880S,SNP,SNVindel,exonic,GRIK3,NA,nonsynonymous SNV,GRIK3:NM_000831:exon16:c.C2638T:p.P880S,T,D,D,T,N,T
chr1,38148803,38148803,C,T,R010_S,C1orf109,Missense_Mutation,NM_001303030,exon5,c.G790A,p.E264K,SNP,SNVindel,exonic,C1orf109,NA,nonsynonymous SNV,"C1orf109:NM_001303030:exon5:c.G790A:p.E264K,C1orf109:NM_001303031:exon5:c.G793A:p.E265K,C1orf109:NM_001350755:exon5:c.G797A:p.G266E,C1orf109:NM_001350756:exon5:c.G794A:p.G265E,C1orf109:NM_001350760:exon5:c.G608A:p.G203E,C1orf109:NM_001350761:exon5:c.G608A:p.G203E,C1orf109:NM_001350764:exon5:c.G608A:p.G203E,C1orf109:NM_001350769:exon5:c.G604A:p.E202K,C1orf109:NM_001350770:exon5:c.G604A:p.E202K,C1orf109:NM_001350771:exon5:c.G604A:p.E202K,C1orf109:NM_017850:exon5:c.G604A:p.E202K,C1orf109:NM_001350757:exon6:c.G793A:p.E265K,C1orf109:NM_001350759:exon6:c.G790A:p.E264K,C1orf109:NM_001350766:exon6:c.G604A:p.E202K,C1orf109:NM_001350768:exon6:c.G604A:p.E202K,C1orf109:NM_001350758:exon7:c.G790A:p.E264K,C1orf109:NM_001350762:exon7:c.G608A:p.G203E,C1orf109:NM_001350763:exon7:c.G608A:p.G203E,C1orf109:NM_001350765:exon7:c.G604A:p.E202K,C1orf109:NM_001350767:exon7:c.G604A:p.E202K",T,N,D,.,N,T
chr1,38185240,38185240,G,A,R010_S,EPHA10,Missense_Mutation,NM_001099439,exon15,c.C2602T,p.P868S,SNP,SNVindel,exonic,EPHA10,NA,nonsynonymous SNV,EPHA10:NM_001099439:exon15:c.C2602T:p.P868S,D,N,D,D,D,D
chr1,38188779,38188779,C,T,R010_S,EPHA10,Missense_Mutation,NM_001099439,exon10,c.G1894A,p.A632T,SNP,SNVindel,exonic,EPHA10,NA,nonsynonymous SNV,EPHA10:NM_001099439:exon10:c.G1894A:p.A632T,D,N,D,T,D,T
chr1,38338771,38338771,C,T,R010_S,INPP5B,Missense_Mutation,NM_001297434,exon13,c.G1526A,p.G509D,SNP,SNVindel,exonic,INPP5B,NA,nonsynonymous SNV,"INPP5B:NM_001297434:exon13:c.G1526A:p.G509D,INPP5B:NM_001350227:exon13:c.G1358A:p.G453D,INPP5B:NM_001350228:exon16:c.G1358A:p.G453D,INPP5B:NM_001365822:exon18:c.G1952A:p.G651D,INPP5B:NM_001365825:exon18:c.G1661A:p.G554D,INPP5B:NM_001365820:exon19:c.G2018A:p.G673D,INPP5B:NM_001365821:exon19:c.G2012A:p.G671D,INPP5B:NM_005540:exon19:c.G2018A:p.G673D,INPP5B:NM_001365823:exon20:c.G1823A:p.G608D,INPP5B:NM_001365824:exon20:c.G1823A:p.G608D",D,D,D,T,D,T
chr1,38511152,38511152,C,T,R010_S,POU3F1,Missense_Mutation,NM_002699,exon1,c.G1264A,p.G422S,SNP,SNVindel,exonic,POU3F1,NA,nonsynonymous SNV,POU3F1:NM_002699:exon1:c.G1264A:p.G422S,T,.,N,D,N,T
chr1,39853950,39853950,G,A,R010_S,MACF1,Missense_Mutation,NM_012090,exon52,c.G9250A,p.G3084S,SNP,SNVindel,exonic,MACF1,NA,nonsynonymous SNV,MACF1:NM_012090:exon52:c.G9250A:p.G3084S,T,N,D,T,N,T
chr1,39878567,39878567,C,T,R010_S,KIAA0754,Missense_Mutation,NM_015038,exon1,c.C2630T,p.P877L,SNP,SNVindel,exonic,KIAA0754,NA,nonsynonymous SNV,KIAA0754:NM_015038:exon1:c.C2630T:p.P877L,.,.,D,T,D,T
chr1,39991383,39991383,C,T,R010_S,BMP8A,Silent,NM_181809,exon7,c.C1122T,p.A374A,SNP,SNVindel,exonic,BMP8A,NA,synonymous SNV,BMP8A:NM_181809:exon7:c.C1122T:p.A374A,NA,NA,NA,NA,NA,NA
chr1,40129018,40129018,G,A,R010_S,NT5C1A,Silent,NM_032526,exon4,c.C522T,p.A174A,SNP,SNVindel,exonic,NT5C1A,NA,synonymous SNV,NT5C1A:NM_032526:exon4:c.C522T:p.A174A,NA,NA,NA,NA,NA,NA
chr1,41540945,41540945,C,T,R010_S,SCMH1,Silent,NM_001172222,exon5,c.G420A,p.K140K,SNP,SNVindel,exonic,SCMH1,NA,synonymous SNV,"SCMH1:NM_001172222:exon5:c.G420A:p.K140K,SCMH1:NM_001172220:exon8:c.G711A:p.K237K,SCMH1:NM_001172221:exon8:c.G711A:p.K237K,SCMH1:NM_001350668:exon8:c.G390A:p.K130K,SCMH1:NM_001031694:exon9:c.G894A:p.K298K,SCMH1:NM_001172219:exon9:c.G924A:p.K308K,SCMH1:NM_012236:exon9:c.G753A:p.K251K,SCMH1:NM_001172218:exon10:c.G711A:p.K237K,SCMH1:NM_001350667:exon10:c.G621A:p.K207K",NA,NA,NA,NA,NA,NA
chr1,41948209,41948209,G,A,R010_S,EDN2,Missense_Mutation,NM_001302269,exon3,c.C272T,p.S91F,SNP,SNVindel,exonic,EDN2,NA,nonsynonymous SNV,"EDN2:NM_001302269:exon3:c.C272T:p.S91F,EDN2:NM_001956:exon3:c.C272T:p.S91F",T,N,D,D,N,D
chr1,42880348,42880348,G,A,R010_S,RIMKLA,Silent,NM_173642,exon5,c.G879A,p.G293G,SNP,SNVindel,exonic,RIMKLA,NA,synonymous SNV,RIMKLA:NM_173642:exon5:c.G879A:p.G293G,NA,NA,NA,NA,NA,NA
chr1,43905312,43905312,G,A,R010_S,SZT2,Missense_Mutation,NM_015284,exon49,c.G6743A,p.G2248E,SNP,SNVindel,exonic,SZT2,NA,nonsynonymous SNV,"SZT2:NM_015284:exon49:c.G6743A:p.G2248E,SZT2:NM_001365999:exon50:c.G6914A:p.G2305E",T,N,N,.,N,T
chr1,43912662,43912662,C,T,R010_S,SZT2,Missense_Mutation,NM_015284,exon65,c.C8938T,p.R2980W,SNP,SNVindel,exonic,SZT2,NA,nonsynonymous SNV,"SZT2:NM_015284:exon65:c.C8938T:p.R2980W,SZT2:NM_001365999:exon66:c.C9109T:p.R3037W",D,D,D,.,D,T
chr1,44415566,44415566,G,A,R010_S,IPO13,Missense_Mutation,NM_014652,exon2,c.G562A,p.G188S,SNP,SNVindel,exonic,IPO13,NA,nonsynonymous SNV,IPO13:NM_014652:exon2:c.G562A:p.G188S,T,N,D,T,N,T
chr1,45125959,45125959,G,A,R010_S,TMEM53,Missense_Mutation,NM_001300747,exon2,c.C70T,p.P24S,SNP,SNVindel,exonic,TMEM53,NA,nonsynonymous SNV,"TMEM53:NM_001300747:exon2:c.C70T:p.P24S,TMEM53:NM_001300748:exon2:c.C70T:p.P24S,TMEM53:NM_024587:exon2:c.C70T:p.P24S",T,N,N,.,N,T
chr1,45250011,45250011,G,A,R010_S,BEST4,Silent,NM_153274,exon9,c.C1293T,p.G431G,SNP,SNVindel,exonic,BEST4,NA,synonymous SNV,BEST4:NM_153274:exon9:c.C1293T:p.G431G,NA,NA,NA,NA,NA,NA
chr1,45279153,45279153,G,A,R010_S,BTBD19,Silent,NM_001136537,exon7,c.G723A,p.R241R,SNP,SNVindel,exonic,BTBD19,NA,synonymous SNV,BTBD19:NM_001136537:exon7:c.G723A:p.R241R,NA,NA,NA,NA,NA,NA
chr1,45288094,45288094,G,A,R010_S,PTCH2,Missense_Mutation,NM_003738,exon22,c.C3605T,p.T1202I,SNP,SNVindel,exonic,PTCH2,NA,nonsynonymous SNV,PTCH2:NM_003738:exon22:c.C3605T:p.T1202I,D,N,N,D,N,T
chr1,46546398,46546398,G,A,R010_S,LOC110117498-PIK3R3,Missense_Mutation,NM_001303427,exon2,c.C269T,p.P90L,SNP,SNVindel,exonic,LOC110117498-PIK3R3;PIK3R3,NA,nonsynonymous SNV,"LOC110117498-PIK3R3:NM_001303427:exon2:c.C269T:p.P90L,PIK3R3:NM_001303429:exon2:c.C131T:p.P44L,PIK3R3:NM_001328652:exon2:c.C131T:p.P44L,PIK3R3:NM_003629:exon2:c.C131T:p.P44L,PIK3R3:NM_001114172:exon3:c.C131T:p.P44L,PIK3R3:NM_001303428:exon3:c.C182T:p.P61L",T,D,D,T,N,T
chr1,46751970,46751970,C,T,R010_S,LRRC41,Missense_Mutation,NM_006369,exon4,c.G559A,p.V187I,SNP,SNVindel,exonic,LRRC41,NA,nonsynonymous SNV,LRRC41:NM_006369:exon4:c.G559A:p.V187I,D,D,D,D,N,D
chr1,47027286,47027286,C,T,R010_S,MKNK1,Missense_Mutation,NM_001135553,exon11,c.G833A,p.G278D,SNP,SNVindel,exonic,MKNK1,NA,nonsynonymous SNV,"MKNK1:NM_001135553:exon11:c.G833A:p.G278D,MKNK1:NM_198973:exon11:c.G833A:p.G278D,MKNK1:NM_003684:exon12:c.G956A:p.G319D",D,D,D,T,D,T
chr1,48459885,48459885,G,A,R010_S,TRABD2B,Missense_Mutation,NM_001194986,exon2,c.C487T,p.P163S,SNP,SNVindel,exonic,TRABD2B,NA,nonsynonymous SNV,TRABD2B:NM_001194986:exon2:c.C487T:p.P163S,.,.,D,.,.,.
chr1,50571996,50571996,G,A,R010_S,ELAVL4,Silent,NM_001144775,exon1,c.G48A,p.G16G,SNP,SNVindel,exonic,ELAVL4,NA,synonymous SNV,ELAVL4:NM_001144775:exon1:c.G48A:p.G16G,NA,NA,NA,NA,NA,NA
chr1,50884652,50884652,G,A,R010_S,DMRTA2,Silent,NM_032110,exon3,c.C1314T,p.F438F,SNP,SNVindel,exonic,DMRTA2,NA,synonymous SNV,DMRTA2:NM_032110:exon3:c.C1314T:p.F438F,NA,NA,NA,NA,NA,NA
chr1,53267543,53267543,C,T,R010_S,ZYG11B,Missense_Mutation,NM_024646,exon9,c.C1538T,p.T513I,SNP,SNVindel,exonic,ZYG11B,NA,nonsynonymous SNV,ZYG11B:NM_024646:exon9:c.C1538T:p.T513I,D,D,D,T,D,T
chr1,53446210,53446210,C,T,R010_S,SCP2,Missense_Mutation,NM_001007098,exon9,c.C836T,p.P279L,SNP,SNVindel,exonic,SCP2,NA,nonsynonymous SNV,"SCP2:NM_001007098:exon9:c.C836T:p.P279L,SCP2:NM_001193599:exon9:c.C896T:p.P299L,SCP2:NM_001193600:exon9:c.C836T:p.P279L,SCP2:NM_001193617:exon9:c.C725T:p.P242L,SCP2:NM_001330587:exon10:c.C968T:p.P323L,SCP2:NM_002979:exon10:c.C968T:p.P323L",D,D,D,D,D,D
chr1,53715100,53715100,G,A,R010_S,LRP8,Silent,NM_033300,exon16,c.C2295T,p.H765H,SNP,SNVindel,exonic,LRP8,NA,synonymous SNV,"LRP8:NM_033300:exon16:c.C2295T:p.H765H,LRP8:NM_004631:exon18:c.C2805T:p.H935H",NA,NA,NA,NA,NA,NA
chr1,53716500,53716500,C,T,R010_S,LRP8,Silent,NM_017522,exon15,c.G1926A,p.L642L,SNP,SNVindel,exonic,LRP8,NA,synonymous SNV,"LRP8:NM_017522:exon15:c.G1926A:p.L642L,LRP8:NM_033300:exon15:c.G2028A:p.L676L,LRP8:NM_001018054:exon17:c.G2538A:p.L846L,LRP8:NM_004631:exon17:c.G2538A:p.L846L",NA,NA,NA,NA,NA,NA
chr1,54683868,54683868,C,T,R010_S,MRPL37,Silent,NM_016491,exon7,c.C1218T,p.F406F,SNP,SNVindel,exonic,MRPL37,NA,synonymous SNV,MRPL37:NM_016491:exon7:c.C1218T:p.F406F,NA,NA,NA,NA,NA,NA
chr1,54690915,54690915,C,T,R010_S,MRPL37,Missense_Mutation,NM_001330602,exon7,c.C1312T,p.L438F,SNP,SNVindel,exonic,MRPL37,NA,nonsynonymous SNV,MRPL37:NM_001330602:exon7:c.C1312T:p.L438F,.,.,.,.,.,.
chr1,55068366,55068366,G,A,R010_S,ACOT11,Missense_Mutation,NM_015547,exon10,c.G1054A,p.A352T,SNP,SNVindel,exonic,ACOT11,NA,nonsynonymous SNV,"ACOT11:NM_015547:exon10:c.G1054A:p.A352T,ACOT11:NM_147161:exon10:c.G1054A:p.A352T",D,D,D,T,D,T
chr1,55247332,55247332,G,A,R010_S,TTC22,Missense_Mutation,NM_001114108,exon7,c.C1294T,p.P432S,SNP,SNVindel,exonic,TTC22,NA,nonsynonymous SNV,TTC22:NM_001114108:exon7:c.C1294T:p.P432S,T,D,D,T,D,T
chr1,55523127,55523127,G,A,R010_S,PCSK9,Missense_Mutation,NM_174936,exon7,c.G1120A,p.D374N,SNP,SNVindel,exonic,PCSK9,NA,nonsynonymous SNV,PCSK9:NM_174936:exon7:c.G1120A:p.D374N,T,D,D,D,N,T
chr1,57481070,57481070,G,A,R010_S,DAB1,Silent,NM_001353983,exon12,c.C930T,p.F310F,SNP,SNVindel,exonic,DAB1,NA,synonymous SNV,"DAB1:NM_001353983:exon12:c.C930T:p.F310F,DAB1:NM_001353985:exon12:c.C930T:p.F310F,DAB1:NM_001353986:exon12:c.C924T:p.F308F,DAB1:NM_001365792:exon12:c.C930T:p.F310F,DAB1:NM_001365793:exon12:c.C930T:p.F310F,DAB1:NM_021080:exon14:c.C930T:p.F310F",NA,NA,NA,NA,NA,NA
chr1,57611011,57611011,G,A,R010_S,DAB1,Silent,NM_001353983,exon3,c.C159T,p.S53S,SNP,SNVindel,exonic,DAB1,NA,synonymous SNV,"DAB1:NM_001353983:exon3:c.C159T:p.S53S,DAB1:NM_001353985:exon3:c.C159T:p.S53S,DAB1:NM_001353986:exon3:c.C159T:p.S53S,DAB1:NM_001365792:exon3:c.C159T:p.S53S,DAB1:NM_001365793:exon3:c.C159T:p.S53S,DAB1:NM_001365794:exon3:c.C159T:p.S53S,DAB1:NM_001365795:exon3:c.C159T:p.S53S,DAB1:NM_021080:exon5:c.C159T:p.S53S,DAB1:NM_001353980:exon6:c.C159T:p.S53S",NA,NA,NA,NA,NA,NA
chr1,60073562,60073562,C,T,R010_S,FGGY,Nonsense_Mutation,NM_001278224,exon3,c.C94T,p.Q32X,SNP,SNVindel,exonic,FGGY,NA,stopgain,"FGGY:NM_001278224:exon3:c.C94T:p.Q32X,FGGY:NM_001244714:exon7:c.C727T:p.Q243X,FGGY:NM_001350795:exon7:c.C727T:p.Q243X,FGGY:NM_001350796:exon8:c.C655T:p.Q219X,FGGY:NM_001350797:exon8:c.C589T:p.Q197X,FGGY:NM_001350798:exon8:c.C655T:p.Q219X,FGGY:NM_001350799:exon8:c.C655T:p.Q219X,FGGY:NM_001113411:exon9:c.C991T:p.Q331X,FGGY:NM_001350790:exon9:c.C991T:p.Q331X,FGGY:NM_001350791:exon9:c.C991T:p.Q331X,FGGY:NM_001350794:exon9:c.C991T:p.Q331X,FGGY:NM_018291:exon9:c.C991T:p.Q331X,FGGY:NM_001350792:exon11:c.C823T:p.Q275X,FGGY:NM_001350793:exon11:c.C823T:p.Q275X",.,D,A,.,.,.
chr1,60370684,60370684,C,T,R010_S,CYP2J2,Silent,NM_000775,exon7,c.G1050A,p.Q350Q,SNP,SNVindel,exonic,CYP2J2,NA,synonymous SNV,CYP2J2:NM_000775:exon7:c.G1050A:p.Q350Q,NA,NA,NA,NA,NA,NA
chr1,61554177,61554177,G,A,R010_S,NFIA,Silent,NM_001134673,exon2,c.G384A,p.R128R,SNP,SNVindel,exonic,NFIA,NA,synonymous SNV,"NFIA:NM_001134673:exon2:c.G384A:p.R128R,NFIA:NM_001145511:exon2:c.G360A:p.R120R,NFIA:NM_005595:exon2:c.G384A:p.R128R,NFIA:NM_001145512:exon3:c.G519A:p.R173R",NA,NA,NA,NA,NA,NA
chr1,61892152,61892152,G,A,R010_S,NFIA,Missense_Mutation,NM_001134673,exon10,c.G1436A,p.S479N,SNP,SNVindel,exonic,NFIA,NA,nonsynonymous SNV,"NFIA:NM_001134673:exon10:c.G1436A:p.S479N,NFIA:NM_001145511:exon10:c.G1412A:p.S471N,NFIA:NM_001145512:exon11:c.G1571A:p.S524N",D,D,D,T,N,T
chr1,62740001,62740001,C,T,R010_S,KANK4,Missense_Mutation,NM_181712,exon3,c.G775A,p.V259I,SNP,SNVindel,exonic,KANK4,NA,nonsynonymous SNV,KANK4:NM_181712:exon3:c.G775A:p.V259I,D,N,N,T,N,T
chr1,63789223,63789223,G,A,R010_S,FOXD3,Missense_Mutation,NM_012183,exon1,c.G494A,p.S165N,SNP,SNVindel,exonic,FOXD3,NA,nonsynonymous SNV,FOXD3:NM_012183:exon1:c.G494A:p.S165N,T,U,D,D,D,T
chr1,67138999,67138999,C,T,R010_S,SGIP1,Missense_Mutation,NM_001308203,exon10,c.C500T,p.P167L,SNP,SNVindel,exonic,SGIP1,NA,nonsynonymous SNV,"SGIP1:NM_001308203:exon10:c.C500T:p.P167L,SGIP1:NM_001350218:exon11:c.C524T:p.P175L,SGIP1:NM_001350217:exon12:c.C608T:p.P203L,SGIP1:NM_032291:exon12:c.C596T:p.P199L",D,D,D,T,D,T
chr1,68615905,68615905,G,A,R010_S,WLS,Missense_Mutation,NM_001193334,exon5,c.C665T,p.S222F,SNP,SNVindel,exonic,WLS,NA,nonsynonymous SNV,"WLS:NM_001193334:exon5:c.C665T:p.S222F,WLS:NM_001002292:exon6:c.C932T:p.S311F,WLS:NM_024911:exon6:c.C938T:p.S313F",D,D,D,T,D,T
chr1,70625070,70625070,G,A,R010_S,LRRC40,Missense_Mutation,NM_017768,exon10,c.C1163T,p.P388L,SNP,SNVindel,exonic,LRRC40,NA,nonsynonymous SNV,LRRC40:NM_017768:exon10:c.C1163T:p.P388L,T,D,D,T,D,T
chr1,76254983,76254983,G,A,R010_S,RABGGTB,Missense_Mutation,NM_004582,exon3,c.G251A,p.G84E,SNP,SNVindel,exonic,RABGGTB,NA,nonsynonymous SNV,RABGGTB:NM_004582:exon3:c.G251A:p.G84E,D,D,D,T,D,D
chr1,78560759,78560759,G,A,R010_S,GIPC2,Missense_Mutation,NM_001304725,exon3,c.G328A,p.E110K,SNP,SNVindel,exonic,GIPC2,NA,nonsynonymous SNV,"GIPC2:NM_001304725:exon3:c.G328A:p.E110K,GIPC2:NM_017655:exon3:c.G550A:p.E184K",D,N,D,T,D,T
chr1,78585160,78585160,G,A,R010_S,GIPC2,Missense_Mutation,NM_001304725,exon4,c.G469A,p.G157S,SNP,SNVindel,exonic,GIPC2,NA,nonsynonymous SNV,"GIPC2:NM_001304725:exon4:c.G469A:p.G157S,GIPC2:NM_017655:exon4:c.G691A:p.G231S",D,D,D,D,D,D
chr1,86171832,86171832,C,T,R010_S,ZNHIT6,Missense_Mutation,NM_017953,exon4,c.G844A,p.E282K,SNP,SNVindel,exonic,ZNHIT6,NA,nonsynonymous SNV,"ZNHIT6:NM_017953:exon4:c.G844A:p.E282K,ZNHIT6:NM_001170670:exon5:c.G727A:p.E243K",D,D,D,T,D,T
chr1,86173768,86173768,C,T,R010_S,ZNHIT6,Missense_Mutation,NM_001170670,exon1,c.G200A,p.R67K,SNP,SNVindel,exonic,ZNHIT6,NA,nonsynonymous SNV,"ZNHIT6:NM_001170670:exon1:c.G200A:p.R67K,ZNHIT6:NM_017953:exon1:c.G200A:p.R67K",T,N,N,T,N,T
chr1,86289406,86289406,G,A,R010_S,COL24A1,Missense_Mutation,NM_001349955,exon44,c.C1597T,p.P533S,SNP,SNVindel,exonic,COL24A1,NA,nonsynonymous SNV,"COL24A1:NM_001349955:exon44:c.C1597T:p.P533S,COL24A1:NM_152890:exon44:c.C3697T:p.P1233S",T,N,D,T,D,D
chr1,89585954,89585954,G,A,R010_S,GBP2,Silent,NM_004120,exon4,c.C336T,p.D112D,SNP,SNVindel,exonic,GBP2,NA,synonymous SNV,GBP2:NM_004120:exon4:c.C336T:p.D112D,NA,NA,NA,NA,NA,NA
chr1,89849304,89849304,G,A,R010_S,GBP6,Missense_Mutation,NM_001320257,exon7,c.G1069A,p.A357T,SNP,SNVindel,exonic,GBP6,NA,nonsynonymous SNV,"GBP6:NM_001320257:exon7:c.G1069A:p.A357T,GBP6:NM_198460:exon9:c.G1459A:p.A487T",T,N,N,T,D,T
chr1,91182268,91182268,G,A,R010_S,BARHL2,Missense_Mutation,NM_020063,exon1,c.C485T,p.T162I,SNP,SNVindel,exonic,BARHL2,NA,nonsynonymous SNV,BARHL2:NM_020063:exon1:c.C485T:p.T162I,D,D,D,D,N,D
chr1,91403960,91403960,C,T,R010_S,ZNF644,Missense_Mutation,NM_201269,exon3,c.G2951A,p.G984E,SNP,SNVindel,exonic,ZNF644,NA,nonsynonymous SNV,ZNF644:NM_201269:exon3:c.G2951A:p.G984E,D,D,D,T,D,T
chr1,92498082,92498082,C,T,R010_S,EPHX4,Silent,NM_173567,exon2,c.C252T,p.H84H,SNP,SNVindel,exonic,EPHX4,NA,synonymous SNV,EPHX4:NM_173567:exon2:c.C252T:p.H84H,NA,NA,NA,NA,NA,NA
chr1,92647987,92647987,C,T,R010_S,KIAA1107,Missense_Mutation,NM_015237,exon6,c.C3208T,p.P1070S,SNP,SNVindel,exonic,KIAA1107,NA,nonsynonymous SNV,KIAA1107:NM_015237:exon6:c.C3208T:p.P1070S,D,D,D,T,D,T
chr1,92979326,92979326,C,T,R010_S,EVI5,Missense_Mutation,NM_005665,exon18,c.G2320A,p.D774N,SNP,SNVindel,exonic,EVI5,NA,nonsynonymous SNV,"EVI5:NM_005665:exon18:c.G2320A:p.D774N,EVI5:NM_001308248:exon19:c.G2353A:p.D785N,EVI5:NM_001350197:exon20:c.G2368A:p.D790N",T,N,D,T,N,T
chr1,93659248,93659248,G,A,R010_S,CCDC18,Silent,NM_001306076,exon6,c.G645A,p.E215E,SNP,SNVindel,exonic,CCDC18,NA,synonymous SNV,"CCDC18:NM_001306076:exon6:c.G645A:p.E215E,CCDC18:NM_206886:exon6:c.G645A:p.E215E",NA,NA,NA,NA,NA,NA
chr1,93691902,93691902,G,A,R010_S,CCDC18,Missense_Mutation,NM_001306076,exon17,c.G2185A,p.D729N,SNP,SNVindel,exonic,CCDC18,NA,nonsynonymous SNV,"CCDC18:NM_001306076:exon17:c.G2185A:p.D729N,CCDC18:NM_206886:exon17:c.G2188A:p.D730N",D,D,D,T,N,T
chr1,94049644,94049644,G,A,R010_S,BCAR3,Silent,NM_001261410,exon4,c.C691T,p.L231L,SNP,SNVindel,exonic,BCAR3,NA,synonymous SNV,"BCAR3:NM_001261410:exon4:c.C691T:p.L231L,BCAR3:NM_001261409:exon6:c.C964T:p.L322L,BCAR3:NM_003567:exon6:c.C964T:p.L322L,BCAR3:NM_001261408:exon8:c.C964T:p.L322L",NA,NA,NA,NA,NA,NA
chr1,94335473,94335473,G,A,R010_S,DNTTIP2,Silent,NM_014597,exon7,c.C2205T,p.I735I,SNP,SNVindel,exonic,DNTTIP2,NA,synonymous SNV,DNTTIP2:NM_014597:exon7:c.C2205T:p.I735I,NA,NA,NA,NA,NA,NA
chr1,94480161,94480161,G,A,R010_S,ABCA4,Silent,NM_000350,exon38,c.C5398T,p.L1800L,SNP,SNVindel,exonic,ABCA4,NA,synonymous SNV,ABCA4:NM_000350:exon38:c.C5398T:p.L1800L,NA,NA,NA,NA,NA,NA
chr1,94650610,94650610,G,A,R010_S,ARHGAP29,Missense_Mutation,NM_001328665,exon17,c.C1735T,p.L579F,SNP,SNVindel,exonic,ARHGAP29,NA,nonsynonymous SNV,"ARHGAP29:NM_001328665:exon17:c.C1735T:p.L579F,ARHGAP29:NM_001328667:exon17:c.C1735T:p.L579F,ARHGAP29:NM_001328664:exon18:c.C1927T:p.L643F,ARHGAP29:NM_001328666:exon18:c.C1900T:p.L634F,ARHGAP29:NM_004815:exon18:c.C1927T:p.L643F",D,N,D,D,D,D
chr1,100476951,100476951,G,A,R010_S,SLC35A3,Missense_Mutation,NM_001271684,exon5,c.G496A,p.E166K,SNP,SNVindel,exonic,SLC35A3,NA,nonsynonymous SNV,"SLC35A3:NM_001271684:exon5:c.G496A:p.E166K,SLC35A3:NM_001271685:exon5:c.G622A:p.E208K,SLC35A3:NM_012243:exon5:c.G496A:p.E166K",T,D,D,T,N,T
chr1,100613668,100613668,G,A,R010_S,TRMT13,Missense_Mutation,NM_019083,exon10,c.G1036A,p.V346M,SNP,SNVindel,exonic,TRMT13,NA,nonsynonymous SNV,TRMT13:NM_019083:exon10:c.G1036A:p.V346M,D,D,D,T,D,T
chr1,103461564,103461564,G,A,R010_S,COL11A1,Missense_Mutation,NM_080630,exon25,c.C1928T,p.P643L,SNP,SNVindel,exonic,COL11A1,NA,nonsynonymous SNV,"COL11A1:NM_080630:exon25:c.C1928T:p.P643L,COL11A1:NM_001190709:exon26:c.C2159T:p.P720L,COL11A1:NM_001854:exon27:c.C2276T:p.P759L,COL11A1:NM_080629:exon27:c.C2312T:p.P771L",D,D,D,D,D,D
chr1,108247254,108247254,G,A,R010_S,VAV3,Silent,NM_006113,exon17,c.C1623T,p.G541G,SNP,SNVindel,exonic,VAV3,NA,synonymous SNV,VAV3:NM_006113:exon17:c.C1623T:p.G541G,NA,NA,NA,NA,NA,NA
chr1,109143189,109143189,G,A,R010_S,FAM102B,Missense_Mutation,NM_001010883,exon2,c.G139A,p.E47K,SNP,SNVindel,exonic,FAM102B,NA,nonsynonymous SNV,FAM102B:NM_001010883:exon2:c.G139A:p.E47K,D,D,D,T,D,T
chr1,109295715,109295715,C,T,R010_S,STXBP3,Missense_Mutation,NM_007269,exon3,c.C130T,p.L44F,SNP,SNVindel,exonic,STXBP3,NA,nonsynonymous SNV,STXBP3:NM_007269:exon3:c.C130T:p.L44F,D,D,D,T,N,D
chr1,109351480,109351480,C,T,R010_S,STXBP3,Missense_Mutation,NM_007269,exon19,c.C1760T,p.S587F,SNP,SNVindel,exonic,STXBP3,NA,nonsynonymous SNV,STXBP3:NM_007269:exon19:c.C1760T:p.S587F,D,N,N,T,N,T
chr1,109479756,109479756,G,A,R010_S,CLCC1,Silent,NM_001278203,exon5,c.C771T,p.L257L,SNP,SNVindel,exonic,CLCC1,NA,synonymous SNV,"CLCC1:NM_001278203:exon5:c.C771T:p.L257L,CLCC1:NM_001278202:exon7:c.C963T:p.L321L,CLCC1:NM_001048210:exon10:c.C1326T:p.L442L,CLCC1:NM_015127:exon10:c.C1176T:p.L392L",NA,NA,NA,NA,NA,NA
chr1,109878881,109878881,G,A,R010_S,SORT1,Missense_Mutation,NM_001205228,exon11,c.C941T,p.T314I,SNP,SNVindel,exonic,SORT1,NA,nonsynonymous SNV,"SORT1:NM_001205228:exon11:c.C941T:p.T314I,SORT1:NM_002959:exon11:c.C1352T:p.T451I",T,D,D,T,D,T
chr1,110031588,110031588,G,A,R010_S,ATXN7L2,Silent,NM_001350174,exon7,c.G999A,p.G333G,SNP,SNVindel,exonic,ATXN7L2,NA,synonymous SNV,"ATXN7L2:NM_001350174:exon7:c.G999A:p.G333G,ATXN7L2:NM_001350175:exon7:c.G999A:p.G333G,ATXN7L2:NM_153340:exon7:c.G903A:p.G301G,ATXN7L2:NM_001350177:exon8:c.G825A:p.G275G",NA,NA,NA,NA,NA,NA
chr1,110563421,110563421,G,A,R010_S,AHCYL1,Missense_Mutation,NM_001242673,exon16,c.G1393A,p.A465T,SNP,SNVindel,exonic,AHCYL1,NA,nonsynonymous SNV,"AHCYL1:NM_001242673:exon16:c.G1393A:p.A465T,AHCYL1:NM_001242675:exon16:c.G1393A:p.A465T,AHCYL1:NM_001242676:exon16:c.G1393A:p.A465T,AHCYL1:NM_006621:exon16:c.G1534A:p.A512T,AHCYL1:NM_001242674:exon17:c.G1393A:p.A465T",D,D,D,T,D,D
chr1,110585880,110585880,C,T,R010_S,STRIP1,Silent,NM_001270768,exon9,c.C771T,p.R257R,SNP,SNVindel,exonic,STRIP1,NA,synonymous SNV,"STRIP1:NM_001270768:exon9:c.C771T:p.R257R,STRIP1:NM_033088:exon9:c.C1056T:p.R352R",NA,NA,NA,NA,NA,NA
chr1,110740975,110740975,G,A,R010_S,SLC6A17,Missense_Mutation,NM_001010898,exon12,c.G2093A,p.G698D,SNP,SNVindel,exonic,SLC6A17,NA,nonsynonymous SNV,SLC6A17:NM_001010898:exon12:c.G2093A:p.G698D,D,N,D,T,N,T
chr1,110754142,110754142,C,T,R010_S,KCNC4,Silent,NM_001039574,exon1,c.C21T,p.V7V,SNP,SNVindel,exonic,KCNC4,NA,synonymous SNV,"KCNC4:NM_001039574:exon1:c.C21T:p.V7V,KCNC4:NM_004978:exon1:c.C21T:p.V7V",NA,NA,NA,NA,NA,NA
chr1,110882727,110882727,G,A,R010_S,RBM15,Missense_Mutation,NM_001201545,exon1,c.G700A,p.A234T,SNP,SNVindel,exonic,RBM15,NA,nonsynonymous SNV,"RBM15:NM_001201545:exon1:c.G700A:p.A234T,RBM15:NM_022768:exon1:c.G700A:p.A234T",D,D,D,T,D,T
chr1,111216823,111216823,G,A,R010_S,KCNA3,Silent,NM_002232,exon1,c.C609T,p.F203F,SNP,SNVindel,exonic,KCNA3,NA,synonymous SNV,KCNA3:NM_002232:exon1:c.C609T:p.F203F,NA,NA,NA,NA,NA,NA
chr1,111439297,111439297,G,A,R010_S,CD53,Missense_Mutation,NM_000560,exon6,c.G446A,p.G149D,SNP,SNVindel,exonic,CD53,NA,nonsynonymous SNV,"CD53:NM_000560:exon6:c.G446A:p.G149D,CD53:NM_001040033:exon7:c.G446A:p.G149D",T,N,N,D,N,T
chr1,112269650,112269650,G,A,R010_S,INKA2,Silent,NM_019099,exon2,c.C834T,p.C278C,SNP,SNVindel,exonic,INKA2,NA,synonymous SNV,"INKA2:NM_019099:exon2:c.C834T:p.C278C,INKA2:NM_198926:exon2:c.C789T:p.C263C",NA,NA,NA,NA,NA,NA
chr1,112270147,112270147,C,T,R010_S,INKA2,Missense_Mutation,NM_019099,exon2,c.G337A,p.G113R,SNP,SNVindel,exonic,INKA2,NA,nonsynonymous SNV,"INKA2:NM_019099:exon2:c.G337A:p.G113R,INKA2:NM_198926:exon2:c.G292A:p.G98R",D,N,D,.,N,T
chr1,112298696,112298696,G,A,R010_S,DDX20,Silent,NM_007204,exon1,c.G150A,p.R50R,SNP,SNVindel,exonic,DDX20,NA,synonymous SNV,DDX20:NM_007204:exon1:c.G150A:p.R50R,NA,NA,NA,NA,NA,NA
chr1,112308468,112308468,G,A,R010_S,DDX20,Silent,NM_007204,exon11,c.G1422A,p.K474K,SNP,SNVindel,exonic,DDX20,NA,synonymous SNV,DDX20:NM_007204:exon11:c.G1422A:p.K474K,NA,NA,NA,NA,NA,NA
chr1,113239460,113239460,C,T,R010_S,MOV10,Silent,NM_001369507,exon13,c.C2190T,p.R730R,SNP,SNVindel,exonic,MOV10,NA,synonymous SNV,"MOV10:NM_001369507:exon13:c.C2190T:p.R730R,MOV10:NM_001130079:exon14:c.C2190T:p.R730R,MOV10:NM_001321324:exon14:c.C2190T:p.R730R,MOV10:NM_020963:exon14:c.C2190T:p.R730R,MOV10:NM_001286072:exon15:c.C2022T:p.R674R",NA,NA,NA,NA,NA,NA
chr1,114453957,114453957,C,T,R010_S,DCLRE1B,Missense_Mutation,NM_001319946,exon3,c.C365T,p.T122I,SNP,SNVindel,exonic,DCLRE1B,NA,nonsynonymous SNV,"DCLRE1B:NM_001319946:exon3:c.C365T:p.T122I,DCLRE1B:NM_001363691:exon3:c.C365T:p.T122I,DCLRE1B:NM_001319947:exon4:c.C365T:p.T122I,DCLRE1B:NM_001363690:exon4:c.C743T:p.T248I,DCLRE1B:NM_022836:exon4:c.C743T:p.T248I",T,N,N,T,N,T
chr1,114523820,114523820,G,A,R010_S,OLFML3,Missense_Mutation,NM_001286353,exon3,c.G467A,p.G156D,SNP,SNVindel,exonic,OLFML3,NA,nonsynonymous SNV,"OLFML3:NM_001286353:exon3:c.G467A:p.G156D,OLFML3:NM_020190:exon3:c.G650A:p.G217D,OLFML3:NM_001286352:exon4:c.G590A:p.G197D",D,D,D,D,D,D
chr1,115216632,115216632,G,A,R010_S,AMPD1,Silent,NM_001172626,exon13,c.C1959T,p.S653S,SNP,SNVindel,exonic,AMPD1,NA,synonymous SNV,"AMPD1:NM_001172626:exon13:c.C1959T:p.S653S,AMPD1:NM_000036:exon14:c.C1971T:p.S657S",NA,NA,NA,NA,NA,NA
chr1,115615546,115615546,G,A,R010_S,TSPAN2,Missense_Mutation,NM_001308315,exon2,c.C152T,p.S51F,SNP,SNVindel,exonic,TSPAN2,NA,nonsynonymous SNV,"TSPAN2:NM_001308315:exon2:c.C152T:p.S51F,TSPAN2:NM_001308316:exon2:c.C152T:p.S51F,TSPAN2:NM_005725:exon2:c.C152T:p.S51F",D,N,D,T,D,D
chr1,116287488,116287488,C,T,R010_S,CASQ2,Missense_Mutation,NM_001232,exon2,c.G280A,p.V94M,SNP,SNVindel,exonic,CASQ2,NA,nonsynonymous SNV,CASQ2:NM_001232:exon2:c.G280A:p.V94M,D,D,D,T,N,T
chr1,117156770,117156770,G,A,R010_S,IGSF3,Missense_Mutation,NM_001007237,exon4,c.C449T,p.A150V,SNP,SNVindel,exonic,IGSF3,NA,nonsynonymous SNV,"IGSF3:NM_001007237:exon4:c.C449T:p.A150V,IGSF3:NM_001542:exon4:c.C449T:p.A150V",T,D,D,T,N,T
chr1,118166293,118166293,G,A,R010_S,TENT5C,Missense_Mutation,NM_017709,exon2,c.G803A,p.R268H,SNP,SNVindel,exonic,TENT5C,NA,nonsynonymous SNV,TENT5C:NM_017709:exon2:c.G803A:p.R268H,D,D,D,T,D,T
chr1,118629502,118629502,C,T,R010_S,SPAG17,Missense_Mutation,NM_206996,exon11,c.G1489A,p.E497K,SNP,SNVindel,exonic,SPAG17,NA,nonsynonymous SNV,SPAG17:NM_206996:exon11:c.G1489A:p.E497K,D,D,N,T,D,T
chr1,120165781,120165781,G,A,R010_S,ZNF697,Silent,NM_001080470,exon3,c.C1185T,p.D395D,SNP,SNVindel,exonic,ZNF697,NA,synonymous SNV,ZNF697:NM_001080470:exon3:c.C1185T:p.D395D,NA,NA,NA,NA,NA,NA
chr1,120295912,120295912,C,T,R010_S,HMGCS2,Missense_Mutation,NM_001166107,exon6,c.G1159A,p.A387T,SNP,SNVindel,exonic,HMGCS2,NA,nonsynonymous SNV,"HMGCS2:NM_001166107:exon6:c.G1159A:p.A387T,HMGCS2:NM_005518:exon7:c.G1285A:p.A429T",T,D,D,T,N,T
chr1,120307116,120307116,C,T,R010_S,HMGCS2,Missense_Mutation,NM_001166107,exon2,c.G238A,p.E80K,SNP,SNVindel,exonic,HMGCS2,NA,nonsynonymous SNV,"HMGCS2:NM_001166107:exon2:c.G238A:p.E80K,HMGCS2:NM_005518:exon2:c.G238A:p.E80K",D,D,D,D,N,T
chr1,120469234,120469234,C,T,R010_S,NOTCH2,Missense_Mutation,NM_024408,exon24,c.G3893A,p.G1298D,SNP,SNVindel,exonic,NOTCH2,NA,nonsynonymous SNV,NOTCH2:NM_024408:exon24:c.G3893A:p.G1298D,D,U,D,D,D,D
chr1,144813801,144813801,G,A,R010_S,NBPF8,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,NBPF8;NBPF9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,144916734,144916734,G,A,R010_S,PDE4DIP,Silent,NM_001002811,exon9,c.C2110T,p.L704L,SNP,SNVindel,exonic,PDE4DIP,NA,synonymous SNV,"PDE4DIP:NM_001002811:exon9:c.C2110T:p.L704L,PDE4DIP:NM_001350520:exon9:c.C2110T:p.L704L,PDE4DIP:NM_001002812:exon13:c.C1621T:p.L541L,PDE4DIP:NM_001198834:exon13:c.C1621T:p.L541L,PDE4DIP:NM_014644:exon13:c.C1621T:p.L541L,PDE4DIP:NM_001198832:exon16:c.C1819T:p.L607L,PDE4DIP:NM_001350521:exon16:c.C2032T:p.L678L,PDE4DIP:NM_001350522:exon16:c.C1819T:p.L607L,PDE4DIP:NM_001350523:exon16:c.C1819T:p.L607L",.,.,.,.,.,.
chr1,144931615,144931615,G,A,R010_S,PDE4DIP,Silent,NM_001002811,exon1,c.C94T,p.L32L,SNP,SNVindel,exonic,PDE4DIP,NA,synonymous SNV,"PDE4DIP:NM_001002811:exon1:c.C94T:p.L32L,PDE4DIP:NM_001350520:exon1:c.C94T:p.L32L",.,.,.,.,.,.
chr1,145281999,145281999,G,A,R010_S,NOTCH2NLA,Missense_Mutation,NM_001364006,exon5,c.G718A,p.V240I,SNP,SNVindel,exonic,NOTCH2NLA;NOTCH2NLB;NOTCH2NLC,NA,nonsynonymous SNV,"NOTCH2NLA:NM_001364006:exon5:c.G718A:p.V240I,NOTCH2NLC:NM_001364012:exon5:c.G679A:p.V227I,NOTCH2NLA:NM_203458:exon5:c.G679A:p.V227I,NOTCH2NLB:NM_001364007:exon6:c.G796A:p.V266I,NOTCH2NLB:NM_001364008:exon6:c.G718A:p.V240I,NOTCH2NLC:NM_001364013:exon7:c.G841A:p.V281I",.,.,.,.,.,.
chr1,145477202,145477202,C,T,R010_S,LIX1L,Missense_Mutation,NM_153713,exon1,c.C44T,p.T15I,SNP,SNVindel,exonic,LIX1L,NA,nonsynonymous SNV,LIX1L:NM_153713:exon1:c.C44T:p.T15I,.,.,.,.,.,.
chr1,145561690,145561690,C,T,R010_S,ANKRD35,Silent,NM_001280799,exon8,c.C1108T,p.L370L,SNP,SNVindel,exonic,ANKRD35,NA,synonymous SNV,"ANKRD35:NM_001280799:exon8:c.C1108T:p.L370L,ANKRD35:NM_144698:exon10:c.C1378T:p.L460L",.,.,.,.,.,.
chr1,145578094,145578094,C,T,R010_S,PIAS3,Silent,NM_006099,exon2,c.C57T,p.L19L,SNP,SNVindel,exonic,PIAS3,NA,synonymous SNV,PIAS3:NM_006099:exon2:c.C57T:p.L19L,NA,NA,NA,NA,NA,NA
chr1,146727538,146727538,C,T,R010_S,CHD1L,Silent,NM_001256336,exon3,c.C118T,p.L40L,SNP,SNVindel,exonic,CHD1L,NA,synonymous SNV,"CHD1L:NM_001256336:exon3:c.C118T:p.L40L,CHD1L:NM_001348453:exon3:c.C79T:p.L27L,CHD1L:NM_001348452:exon4:c.C202T:p.L68L,CHD1L:NM_004284:exon4:c.C418T:p.L140L,CHD1L:NM_024568:exon4:c.C79T:p.L27L,CHD1L:NM_001348451:exon5:c.C202T:p.L68L",NA,NA,NA,NA,NA,NA
chr1,146736219,146736219,G,A,R010_S,CHD1L,Missense_Mutation,NM_001348454,exon2,c.G259A,p.D87N,SNP,SNVindel,exonic,CHD1L,NA,nonsynonymous SNV,"CHD1L:NM_001348454:exon2:c.G259A:p.D87N,CHD1L:NM_001256336:exon6:c.G415A:p.D139N,CHD1L:NM_001348453:exon6:c.G376A:p.D126N,CHD1L:NM_001348455:exon6:c.G226A:p.D76N,CHD1L:NM_001348452:exon7:c.G499A:p.D167N,CHD1L:NM_004284:exon7:c.G715A:p.D239N,CHD1L:NM_024568:exon7:c.G376A:p.D126N,CHD1L:NM_001348451:exon8:c.G499A:p.D167N",T,N,D,D,N,T
chr1,147092746,147092746,C,T,R010_S,BCL9,Missense_Mutation,NM_004326,exon8,c.C2785T,p.P929S,SNP,SNVindel,exonic,BCL9,NA,nonsynonymous SNV,BCL9:NM_004326:exon8:c.C2785T:p.P929S,T,D,D,T,D,T
chr1,150131409,150131409,G,A,R010_S,PLEKHO1,Silent,NM_001304723,exon5,c.G405A,p.R135R,SNP,SNVindel,exonic,PLEKHO1,NA,synonymous SNV,"PLEKHO1:NM_001304723:exon5:c.G405A:p.R135R,PLEKHO1:NM_001304724:exon5:c.G372A:p.R124R,PLEKHO1:NM_001304722:exon6:c.G405A:p.R135R,PLEKHO1:NM_016274:exon6:c.G921A:p.R307R",NA,NA,NA,NA,NA,NA
chr1,150204215,150204215,T,C,R010_S,ANP32E,Missense_Mutation,NM_001136478,exon2,c.A104G,p.E35G,SNP,SNVindel,exonic,ANP32E,NA,nonsynonymous SNV,"ANP32E:NM_001136478:exon2:c.A104G:p.E35G,ANP32E:NM_001280559:exon2:c.A104G:p.E35G,ANP32E:NM_001280560:exon2:c.A104G:p.E35G,ANP32E:NM_030920:exon2:c.A104G:p.E35G",D,D,D,T,D,D
chr1,150689676,150689676,G,A,R010_S,HORMAD1,Missense_Mutation,NM_001199829,exon3,c.C116T,p.S39F,SNP,SNVindel,exonic,HORMAD1,NA,nonsynonymous SNV,"HORMAD1:NM_001199829:exon3:c.C116T:p.S39F,HORMAD1:NM_032132:exon3:c.C116T:p.S39F",D,D,D,T,D,T
chr1,150778395,150778395,C,T,R010_S,CTSK,Missense_Mutation,NM_000396,exon4,c.G341A,p.R114K,SNP,SNVindel,exonic,CTSK,NA,nonsynonymous SNV,CTSK:NM_000396:exon4:c.G341A:p.R114K,T,N,N,D,N,T
chr1,150939636,150939636,G,A,R010_S,CERS2,Missense_Mutation,NM_022075,exon8,c.C655T,p.L219F,SNP,SNVindel,exonic,CERS2,NA,nonsynonymous SNV,"CERS2:NM_022075:exon8:c.C655T:p.L219F,CERS2:NM_181746:exon8:c.C655T:p.L219F",D,D,D,D,D,D
chr1,151016137,151016137,G,A,R010_S,BNIPL,Missense_Mutation,NM_001159642,exon7,c.G539A,p.G180D,SNP,SNVindel,exonic,BNIPL,NA,nonsynonymous SNV,"BNIPL:NM_001159642:exon7:c.G539A:p.G180D,BNIPL:NM_138278:exon7:c.G785A:p.G262D",D,N,D,T,N,T
chr1,151138235,151138235,G,A,R010_S,LYSMD1,Silent,NM_001136543,exon1,c.C24T,p.I8I,SNP,SNVindel,exonic,LYSMD1,NA,synonymous SNV,LYSMD1:NM_001136543:exon1:c.C24T:p.I8I,NA,NA,NA,NA,NA,NA
chr1,151318432,151318432,G,A,R010_S,RFX5,Missense_Mutation,NM_000449,exon4,c.C122T,p.A41V,SNP,SNVindel,exonic,RFX5,NA,nonsynonymous SNV,"RFX5:NM_000449:exon4:c.C122T:p.A41V,RFX5:NM_001025603:exon4:c.C122T:p.A41V",D,N,D,T,N,D
chr1,151379461,151379461,G,A,R010_S,POGZ,Missense_Mutation,NM_145796,exon15,c.C2186T,p.T729I,SNP,SNVindel,exonic,POGZ,NA,nonsynonymous SNV,"POGZ:NM_145796:exon15:c.C2186T:p.T729I,POGZ:NM_207171:exon15:c.C2312T:p.T771I,POGZ:NM_001194938:exon16:c.C2285T:p.T762I,POGZ:NM_001194937:exon17:c.C2444T:p.T815I,POGZ:NM_015100:exon17:c.C2471T:p.T824I",D,D,D,T,D,T
chr1,151681784,151681784,C,T,R010_S,CELF3,Silent,NM_001172648,exon4,c.G177A,p.Q59Q,SNP,SNVindel,exonic,CELF3,NA,synonymous SNV,"CELF3:NM_001172648:exon4:c.G177A:p.Q59Q,CELF3:NM_001172649:exon4:c.G318A:p.Q106Q,CELF3:NM_001291106:exon4:c.G318A:p.Q106Q,CELF3:NM_001291107:exon4:c.G315A:p.Q105Q,CELF3:NM_007185:exon4:c.G318A:p.Q106Q",NA,NA,NA,NA,NA,NA
chr1,152059282,152059282,G,A,R010_S,TCHHL1,Silent,NM_001008536,exon3,c.C876T,p.P292P,SNP,SNVindel,exonic,TCHHL1,NA,synonymous SNV,TCHHL1:NM_001008536:exon3:c.C876T:p.P292P,NA,NA,NA,NA,NA,NA
chr1,152187116,152187116,C,T,R010_S,HRNR,Missense_Mutation,NM_001009931,exon3,c.G6989A,p.R2330Q,SNP,SNVindel,exonic,HRNR,NA,nonsynonymous SNV,HRNR:NM_001009931:exon3:c.G6989A:p.R2330Q,T,.,N,T,N,T
chr1,152188297,152188297,G,A,R010_S,HRNR,Silent,NM_001009931,exon3,c.C5808T,p.H1936H,SNP,SNVindel,exonic,HRNR,NA,synonymous SNV,HRNR:NM_001009931:exon3:c.C5808T:p.H1936H,NA,NA,NA,NA,NA,NA
chr1,152287052,152287052,G,A,R010_S,FLG,Missense_Mutation,NM_002016,exon3,c.C310T,p.H104Y,SNP,SNVindel,exonic,FLG,NA,nonsynonymous SNV,FLG:NM_002016:exon3:c.C310T:p.H104Y,T,.,N,T,D,T
chr1,152384611,152384611,C,T,R010_S,CRNN,Silent,NM_016190,exon2,c.G99A,p.L33L,SNP,SNVindel,exonic,CRNN,NA,synonymous SNV,CRNN:NM_016190:exon2:c.G99A:p.L33L,NA,NA,NA,NA,NA,NA
chr1,153507786,153507786,G,A,R010_S,S100A6,Silent,NM_014624,exon2,c.C30T,p.G10G,SNP,SNVindel,exonic,S100A6,NA,synonymous SNV,S100A6:NM_014624:exon2:c.C30T:p.G10G,NA,NA,NA,NA,NA,NA
chr1,153713818,153713818,C,T,R010_S,INTS3,Missense_Mutation,NM_023015,exon3,c.C292T,p.L98F,SNP,SNVindel,exonic,INTS3,NA,nonsynonymous SNV,"INTS3:NM_023015:exon3:c.C292T:p.L98F,INTS3:NM_001324475:exon4:c.C292T:p.L98F",D,D,D,.,D,T
chr1,153921771,153921771,C,T,R010_S,CRTC2,Silent,NM_181715,exon12,c.G1494A,p.Q498Q,SNP,SNVindel,exonic,CRTC2,NA,synonymous SNV,CRTC2:NM_181715:exon12:c.G1494A:p.Q498Q,NA,NA,NA,NA,NA,NA
chr1,153935066,153935066,G,A,R010_S,SLC39A1,Silent,NM_001271957,exon2,c.C126T,p.L42L,SNP,SNVindel,exonic,SLC39A1,NA,synonymous SNV,"SLC39A1:NM_001271957:exon2:c.C126T:p.L42L,SLC39A1:NM_001271958:exon2:c.C126T:p.L42L,SLC39A1:NM_001271959:exon2:c.C126T:p.L42L,SLC39A1:NM_001271961:exon2:c.C126T:p.L42L,SLC39A1:NM_001271960:exon3:c.C126T:p.L42L,SLC39A1:NM_014437:exon3:c.C126T:p.L42L",NA,NA,NA,NA,NA,NA
chr1,153941514,153941514,C,T,R010_S,CREB3L4,Missense_Mutation,NM_001255978,exon3,c.C283T,p.P95S,SNP,SNVindel,exonic,CREB3L4,NA,nonsynonymous SNV,"CREB3L4:NM_001255978:exon3:c.C283T:p.P95S,CREB3L4:NM_001255979:exon3:c.C283T:p.P95S,CREB3L4:NM_001255980:exon3:c.C223T:p.P75S,CREB3L4:NM_001255981:exon3:c.C223T:p.P75S,CREB3L4:NM_130898:exon3:c.C283T:p.P95S",T,D,P,T,D,T
chr1,154408582,154408582,G,A,R010_S,IL6R,Nonsense_Mutation,NM_000565,exon6,c.G945A,p.W315X,SNP,SNVindel,exonic,IL6R,NA,stopgain,"IL6R:NM_000565:exon6:c.G945A:p.W315X,IL6R:NM_001206866:exon6:c.G945A:p.W315X,IL6R:NM_181359:exon6:c.G945A:p.W315X",.,.,A,.,.,.
chr1,154458517,154458517,G,A,R010_S,SHE,Silent,NM_001010846,exon5,c.C1203T,p.S401S,SNP,SNVindel,exonic,SHE,NA,synonymous SNV,SHE:NM_001010846:exon5:c.C1203T:p.S401S,NA,NA,NA,NA,NA,NA
chr1,154573848,154573848,C,T,R010_S,ADAR,Missense_Mutation,NM_001025107,exon2,c.G385A,p.E129K,SNP,SNVindel,exonic,ADAR,NA,nonsynonymous SNV,"ADAR:NM_001025107:exon2:c.G385A:p.E129K,ADAR:NM_001111:exon2:c.G1270A:p.E424K,ADAR:NM_001193495:exon2:c.G385A:p.E129K,ADAR:NM_001365045:exon2:c.G1297A:p.E433K,ADAR:NM_001365048:exon2:c.G385A:p.E129K,ADAR:NM_015840:exon2:c.G1270A:p.E424K,ADAR:NM_015841:exon2:c.G1270A:p.E424K,ADAR:NM_001365046:exon3:c.G385A:p.E129K,ADAR:NM_001365047:exon3:c.G385A:p.E129K,ADAR:NM_001365049:exon3:c.G385A:p.E129K",T,N,N,T,N,T
chr1,154574519,154574519,G,A,R010_S,ADAR,Missense_Mutation,NM_001111,exon2,c.C599T,p.S200F,SNP,SNVindel,exonic,ADAR,NA,nonsynonymous SNV,"ADAR:NM_001111:exon2:c.C599T:p.S200F,ADAR:NM_001365045:exon2:c.C626T:p.S209F,ADAR:NM_015840:exon2:c.C599T:p.S200F,ADAR:NM_015841:exon2:c.C599T:p.S200F",T,N,N,T,N,T
chr1,155013964,155013964,C,T,R010_S,DCST1,Missense_Mutation,NM_001143687,exon6,c.C548T,p.T183M,SNP,SNVindel,exonic,DCST1,NA,nonsynonymous SNV,"DCST1:NM_001143687:exon6:c.C548T:p.T183M,DCST1:NM_152494:exon7:c.C623T:p.T208M",T,N,N,T,N,T
chr1,155041379,155041379,G,A,R010_S,EFNA4,Missense_Mutation,NM_005227,exon4,c.G520A,p.G174R,SNP,SNVindel,exonic,EFNA4,NA,nonsynonymous SNV,EFNA4:NM_005227:exon4:c.G520A:p.G174R,D,.,D,D,N,D
chr1,155228637,155228637,G,A,R010_S,SCAMP3,Missense_Mutation,NM_052837,exon4,c.C419T,p.T140I,SNP,SNVindel,exonic,SCAMP3,NA,nonsynonymous SNV,"SCAMP3:NM_052837:exon4:c.C419T:p.T140I,SCAMP3:NM_005698:exon5:c.C497T:p.T166I",T,D,D,T,N,T
chr1,155234445,155234445,C,T,R010_S,CLK2,Missense_Mutation,NM_001294339,exon8,c.G370A,p.V124I,SNP,SNVindel,exonic,CLK2,NA,nonsynonymous SNV,"CLK2:NM_001294339:exon8:c.G370A:p.V124I,CLK2:NM_001294338:exon9:c.G1054A:p.V352I,CLK2:NM_001363704:exon9:c.G1048A:p.V350I,CLK2:NM_003993:exon9:c.G1051A:p.V351I",T,D,D,T,N,T
chr1,155261658,155261658,C,T,R010_S,PKLR,Missense_Mutation,NM_000298,exon10,c.G1507A,p.A503T,SNP,SNVindel,exonic,PKLR,NA,nonsynonymous SNV,"PKLR:NM_000298:exon10:c.G1507A:p.A503T,PKLR:NM_181871:exon10:c.G1414A:p.A472T",D,D,D,D,D,D
chr1,155295668,155295668,G,A,R010_S,RUSC1,Missense_Mutation,NM_001278228,exon5,c.G403A,p.E135K,SNP,SNVindel,exonic,RUSC1,NA,nonsynonymous SNV,"RUSC1:NM_001278228:exon5:c.G403A:p.E135K,RUSC1:NM_001278230:exon5:c.G421A:p.E141K,RUSC1:NM_001105205:exon6:c.G598A:p.E200K,RUSC1:NM_001278227:exon6:c.G322A:p.E108K,RUSC1:NM_001278229:exon6:c.G421A:p.E141K,RUSC1:NM_014328:exon6:c.G421A:p.E141K,RUSC1:NM_001105203:exon7:c.G1828A:p.E610K,RUSC1:NM_001105204:exon7:c.G1828A:p.E610K",D,D,D,T,D,T
chr1,155296557,155296557,G,A,R010_S,RUSC1,Missense_Mutation,NM_001278228,exon6,c.G623A,p.G208D,SNP,SNVindel,exonic,RUSC1,NA,nonsynonymous SNV,"RUSC1:NM_001278228:exon6:c.G623A:p.G208D,RUSC1:NM_001278230:exon6:c.G641A:p.G214D,RUSC1:NM_001105205:exon7:c.G818A:p.G273D,RUSC1:NM_001278227:exon7:c.G542A:p.G181D,RUSC1:NM_014328:exon7:c.G641A:p.G214D,RUSC1:NM_001105203:exon8:c.G2048A:p.G683D",T,N,N,T,N,T
chr1,155658150,155658150,C,T,R010_S,YY1AP1,Missense_Mutation,NM_001198903,exon1,c.G106A,p.E36K,SNP,SNVindel,exonic,YY1AP1,NA,nonsynonymous SNV,"YY1AP1:NM_001198903:exon1:c.G106A:p.E36K,YY1AP1:NM_001198904:exon1:c.G106A:p.E36K",D,D,D,T,N,T
chr1,155735788,155735788,C,T,R010_S,GON4L,Missense_Mutation,NM_001282856,exon21,c.G3476A,p.G1159D,SNP,SNVindel,exonic,GON4L,NA,nonsynonymous SNV,"GON4L:NM_001282856:exon21:c.G3476A:p.G1159D,GON4L:NM_001282858:exon21:c.G3476A:p.G1159D,GON4L:NM_001282860:exon21:c.G3476A:p.G1159D,GON4L:NM_001282861:exon21:c.G3476A:p.G1159D,GON4L:NM_032292:exon21:c.G3476A:p.G1159D",T,N,N,T,N,T
chr1,155838299,155838299,G,A,R010_S,SYT11,Missense_Mutation,NM_152280,exon2,c.G578A,p.G193E,SNP,SNVindel,exonic,SYT11,NA,nonsynonymous SNV,SYT11:NM_152280:exon2:c.G578A:p.G193E,T,D,D,T,N,T
chr1,156018394,156018394,G,A,R010_S,UBQLN4,Silent,NM_001304342,exon5,c.C738T,p.D246D,SNP,SNVindel,exonic,UBQLN4,NA,synonymous SNV,"UBQLN4:NM_001304342:exon5:c.C738T:p.D246D,UBQLN4:NM_020131:exon5:c.C798T:p.D266D",NA,NA,NA,NA,NA,NA
chr1,156084966,156084966,G,A,R010_S,LMNA,Missense_Mutation,NM_001282626,exon1,c.G257A,p.G86E,SNP,SNVindel,exonic,LMNA,NA,nonsynonymous SNV,"LMNA:NM_001282626:exon1:c.G257A:p.G86E,LMNA:NM_005572:exon1:c.G257A:p.G86E,LMNA:NM_170707:exon1:c.G257A:p.G86E,LMNA:NM_170708:exon1:c.G257A:p.G86E,LMNA:NM_001282625:exon4:c.G257A:p.G86E",D,N,D,T,N,T
chr1,156262819,156262819,C,T,R010_S,GLMP,Missense_Mutation,NM_001256608,exon5,c.G980A,p.R327K,SNP,SNVindel,exonic,GLMP,NA,nonsynonymous SNV,GLMP:NM_001256608:exon5:c.G980A:p.R327K,.,.,N,.,.,.
chr1,156262903,156262903,G,A,R010_S,GLMP,Missense_Mutation,NM_001256608,exon5,c.C896T,p.A299V,SNP,SNVindel,exonic,GLMP,NA,nonsynonymous SNV,GLMP:NM_001256608:exon5:c.C896T:p.A299V,.,.,D,.,.,.
chr1,156352565,156352565,C,T,R010_S,RHBG,Missense_Mutation,NM_020407,exon8,c.C1139T,p.A380V,SNP,SNVindel,exonic,RHBG,NA,nonsynonymous SNV,"RHBG:NM_020407:exon8:c.C1139T:p.A380V,RHBG:NM_001256395:exon9:c.C932T:p.A311V,RHBG:NM_001256396:exon9:c.C1049T:p.A350V",.,D,D,.,.,T
chr1,156595103,156595103,C,T,R010_S,HAPLN2,Missense_Mutation,NM_021817,exon7,c.C950T,p.P317L,SNP,SNVindel,exonic,HAPLN2,NA,nonsynonymous SNV,HAPLN2:NM_021817:exon7:c.C950T:p.P317L,D,D,D,T,D,T
chr1,156640228,156640228,C,T,R010_S,NES,Missense_Mutation,NM_006617,exon4,c.G3752A,p.G1251E,SNP,SNVindel,exonic,NES,NA,nonsynonymous SNV,NES:NM_006617:exon4:c.G3752A:p.G1251E,D,.,N,D,D,T
chr1,156640451,156640451,C,T,R010_S,NES,Missense_Mutation,NM_006617,exon4,c.G3529A,p.A1177T,SNP,SNVindel,exonic,NES,NA,nonsynonymous SNV,NES:NM_006617:exon4:c.G3529A:p.A1177T,D,N,N,D,N,T
chr1,156814346,156814346,G,A,R010_S,INSRR,Missense_Mutation,NM_014215,exon14,c.C2645T,p.P882L,SNP,SNVindel,exonic,INSRR,NA,nonsynonymous SNV,INSRR:NM_014215:exon14:c.C2645T:p.P882L,T,D,D,T,N,T
chr1,156841512,156841512,G,A,R010_S,NTRK1,Missense_Mutation,NM_001012331,exon7,c.G815A,p.G272D,SNP,SNVindel,exonic,NTRK1,NA,nonsynonymous SNV,"NTRK1:NM_001012331:exon7:c.G815A:p.G272D,NTRK1:NM_002529:exon7:c.G815A:p.G272D,NTRK1:NM_001007792:exon8:c.G725A:p.G242D",D,D,D,T,D,T
chr1,156873731,156873731,C,T,R010_S,PEAR1,Silent,NM_001080471,exon2,c.C13T,p.L5L,SNP,SNVindel,exonic,PEAR1,NA,synonymous SNV,PEAR1:NM_001080471:exon2:c.C13T:p.L5L,NA,NA,NA,NA,NA,NA
chr1,156884555,156884555,C,T,R010_S,PEAR1,Missense_Mutation,NM_001080471,exon23,c.C3079T,p.P1027S,SNP,SNVindel,exonic,PEAR1,NA,nonsynonymous SNV,"PEAR1:NM_001080471:exon23:c.C3079T:p.P1027S,PEAR1:NM_001353682:exon23:c.C2887T:p.P963S,PEAR1:NM_001353683:exon24:c.C2887T:p.P963S",T,D,D,D,N,T
chr1,157559017,157559017,G,A,R010_S,FCRL4,Missense_Mutation,NM_031282,exon3,c.C284T,p.P95L,SNP,SNVindel,exonic,FCRL4,NA,nonsynonymous SNV,FCRL4:NM_031282:exon3:c.C284T:p.P95L,D,N,N,T,D,T
chr1,157716550,157716550,G,A,R010_S,FCRL2,Missense_Mutation,NM_001159488,exon9,c.C1322T,p.S441F,SNP,SNVindel,exonic,FCRL2,NA,nonsynonymous SNV,FCRL2:NM_001159488:exon9:c.C1322T:p.S441F,NA,NA,NA,NA,NA,NA
chr1,158325820,158325820,G,A,R010_S,CD1E,Missense_Mutation,NM_001042586,exon2,c.G262A,p.A88T,SNP,SNVindel,exonic,CD1E,NA,nonsynonymous SNV,"CD1E:NM_001042586:exon2:c.G262A:p.A88T,CD1E:NM_001185112:exon2:c.G262A:p.A88T,CD1E:NM_001185107:exon3:c.G559A:p.A187T,CD1E:NM_001185114:exon3:c.G532A:p.A178T,CD1E:NM_001185115:exon3:c.G559A:p.A187T,CD1E:NM_001042583:exon4:c.G829A:p.A277T,CD1E:NM_030893:exon4:c.G829A:p.A277T",T,N,N,T,D,T
chr1,158326668,158326668,C,T,R010_S,CD1E,Silent,NM_001042586,exon4,c.C546T,p.R182R,SNP,SNVindel,exonic,CD1E,NA,synonymous SNV,"CD1E:NM_001042586:exon4:c.C546T:p.R182R,CD1E:NM_001185110:exon4:c.C381T:p.R127R,CD1E:NM_001185112:exon4:c.C582T:p.R194R,CD1E:NM_001185113:exon4:c.C417T:p.R139R,CD1E:NM_001185107:exon5:c.C879T:p.R293R,CD1E:NM_001185108:exon5:c.C678T:p.R226R,CD1E:NM_001185114:exon5:c.C852T:p.R284R,CD1E:NM_001185115:exon5:c.C843T:p.R281R,CD1E:NM_001042583:exon6:c.C1113T:p.R371R,CD1E:NM_001042585:exon6:c.C948T:p.R316R,CD1E:NM_030893:exon6:c.C1149T:p.R383R",NA,NA,NA,NA,NA,NA
chr1,158813830,158813830,G,A,R010_S,MNDA,Missense_Mutation,NM_002432,exon4,c.G488A,p.G163E,SNP,SNVindel,exonic,MNDA,NA,nonsynonymous SNV,MNDA:NM_002432:exon4:c.G488A:p.G163E,T,N,N,T,D,T
chr1,160000876,160000876,G,A,R010_S,PIGM,Silent,NM_145167,exon1,c.C654T,p.L218L,SNP,SNVindel,exonic,PIGM,NA,synonymous SNV,PIGM:NM_145167:exon1:c.C654T:p.L218L,NA,NA,NA,NA,NA,NA
chr1,160389088,160389088,C,T,R010_S,VANGL2,Silent,NM_020335,exon4,c.C489T,p.S163S,SNP,SNVindel,exonic,VANGL2,NA,synonymous SNV,VANGL2:NM_020335:exon4:c.C489T:p.S163S,NA,NA,NA,NA,NA,NA
chr1,160718102,160718102,C,T,R010_S,SLAMF7,Silent,NM_001282588,exon2,c.C174T,p.T58T,SNP,SNVindel,exonic,SLAMF7,NA,synonymous SNV,"SLAMF7:NM_001282588:exon2:c.C174T:p.T58T,SLAMF7:NM_001282589:exon2:c.C174T:p.T58T,SLAMF7:NM_001282592:exon2:c.C174T:p.T58T,SLAMF7:NM_021181:exon2:c.C174T:p.T58T",NA,NA,NA,NA,NA,NA
chr1,160784353,160784353,G,A,R010_S,LY9,Missense_Mutation,NM_001261456,exon4,c.G874A,p.E292K,SNP,SNVindel,exonic,LY9,NA,nonsynonymous SNV,"LY9:NM_001261456:exon4:c.G874A:p.E292K,LY9:NM_001261457:exon4:c.G874A:p.E292K,LY9:NM_002348:exon4:c.G874A:p.E292K",T,.,N,T,N,T
chr1,160920376,160920376,C,T,R010_S,ITLN2,Silent,NM_080878,exon5,c.G567A,p.Q189Q,SNP,SNVindel,exonic,ITLN2,NA,synonymous SNV,ITLN2:NM_080878:exon5:c.G567A:p.Q189Q,NA,NA,NA,NA,NA,NA
chr1,161010052,161010052,C,T,R010_S,USF1,Silent,NM_001276373,exon10,c.G783A,p.L261L,SNP,SNVindel,exonic,USF1,NA,synonymous SNV,"USF1:NM_001276373:exon10:c.G783A:p.L261L,USF1:NM_007122:exon10:c.G783A:p.L261L,USF1:NM_207005:exon10:c.G606A:p.L202L",NA,NA,NA,NA,NA,NA
chr1,161161223,161161223,C,T,R010_S,ADAMTS4,Missense_Mutation,NM_005099,exon9,c.G2219A,p.G740D,SNP,SNVindel,exonic,ADAMTS4,NA,nonsynonymous SNV,ADAMTS4:NM_005099:exon9:c.G2219A:p.G740D,D,D,D,T,D,T
chr1,161176271,161176271,G,C,R010_S,NDUFS2,Missense_Mutation,NM_001166159,exon3,c.G277C,p.G93R,SNP,SNVindel,exonic,NDUFS2,NA,nonsynonymous SNV,"NDUFS2:NM_001166159:exon3:c.G277C:p.G93R,NDUFS2:NM_004550:exon4:c.G277C:p.G93R",D,D,D,D,D,D
chr1,161192802,161192802,C,T,R010_S,APOA2,Missense_Mutation,NM_001643,exon3,c.G91A,p.E31K,SNP,SNVindel,exonic,APOA2,NA,nonsynonymous SNV,APOA2:NM_001643:exon3:c.G91A:p.E31K,D,N,N,.,N,T
chr1,161681866,161681866,G,A,R010_S,FCRLA,Silent,NM_001184872,exon2,c.G222A,p.R74R,SNP,SNVindel,exonic,FCRLA,NA,synonymous SNV,"FCRLA:NM_001184872:exon2:c.G222A:p.R74R,FCRLA:NM_001184867:exon3:c.G375A:p.R125R,FCRLA:NM_001184870:exon3:c.G240A:p.R80R,FCRLA:NM_032738:exon4:c.G642A:p.R214R,FCRLA:NM_001184866:exon5:c.G660A:p.R220R,FCRLA:NM_001366195:exon5:c.G657A:p.R219R",NA,NA,NA,NA,NA,NA
chr1,161719706,161719706,G,A,R010_S,DUSP12,Missense_Mutation,NM_007240,exon1,c.G115A,p.A39T,SNP,SNVindel,exonic,DUSP12,NA,nonsynonymous SNV,DUSP12:NM_007240:exon1:c.G115A:p.A39T,T,N,N,D,N,T
chr1,161736190,161736190,C,T,R010_S,ATF6,Missense_Mutation,NM_007348,exon1,c.C40T,p.P14S,SNP,SNVindel,exonic,ATF6,NA,nonsynonymous SNV,ATF6:NM_007348:exon1:c.C40T:p.P14S,D,N,N,T,N,T
chr1,162337048,162337048,G,A,R010_S,NOS1AP,Missense_Mutation,NM_001126060,exon2,c.G427A,p.D143N,SNP,SNVindel,exonic,NOS1AP,NA,nonsynonymous SNV,"NOS1AP:NM_001126060:exon2:c.G427A:p.D143N,NOS1AP:NM_001164757:exon10:c.G1297A:p.D433N,NOS1AP:NM_014697:exon10:c.G1312A:p.D438N",D,N,N,T,N,T
chr1,167095146,167095146,G,A,R010_S,DUSP27,Missense_Mutation,NM_001080426,exon6,c.G778A,p.A260T,SNP,SNVindel,exonic,DUSP27,NA,nonsynonymous SNV,DUSP27:NM_001080426:exon6:c.G778A:p.A260T,D,N,D,T,N,T
chr1,167096617,167096617,C,T,R010_S,DUSP27,Missense_Mutation,NM_001080426,exon6,c.C2249T,p.S750F,SNP,SNVindel,exonic,DUSP27,NA,nonsynonymous SNV,DUSP27:NM_001080426:exon6:c.C2249T:p.S750F,D,N,D,T,N,T
chr1,167367321,167367321,C,T,R010_S,POU2F1,Missense_Mutation,NM_001198786,exon10,c.C1031T,p.T344I,SNP,SNVindel,exonic,POU2F1,NA,nonsynonymous SNV,"POU2F1:NM_001198786:exon10:c.C1031T:p.T344I,POU2F1:NM_001198783:exon11:c.C1187T:p.T396I,POU2F1:NM_002697:exon11:c.C1220T:p.T407I,POU2F1:NM_001365849:exon12:c.C1145T:p.T382I,POU2F1:NM_001365848:exon13:c.C1145T:p.T382I",D,D,D,D,D,D
chr1,169509880,169509880,G,A,R010_S,F5,Missense_Mutation,NM_000130,exon13,c.C4448T,p.P1483L,SNP,SNVindel,exonic,F5,NA,nonsynonymous SNV,F5:NM_000130:exon13:c.C4448T:p.P1483L,D,N,N,D,D,D
chr1,169586366,169586366,G,A,R010_S,SELP,Silent,NM_003005,exon3,c.C381T,p.N127N,SNP,SNVindel,exonic,SELP,NA,synonymous SNV,SELP:NM_003005:exon3:c.C381T:p.N127N,NA,NA,NA,NA,NA,NA
chr1,169772408,169772408,C,T,R010_S,C1orf112,Silent,NM_001366768,exon4,c.C183T,p.S61S,SNP,SNVindel,exonic,C1orf112,NA,synonymous SNV,"C1orf112:NM_001366768:exon4:c.C183T:p.S61S,C1orf112:NM_001320050:exon5:c.C444T:p.S148S,C1orf112:NM_001320051:exon5:c.C270T:p.S90S,C1orf112:NM_001366769:exon5:c.C444T:p.S148S,C1orf112:NM_001366770:exon5:c.C444T:p.S148S,C1orf112:NM_001320047:exon6:c.C270T:p.S90S",NA,NA,NA,NA,NA,NA
chr1,170965767,170965767,G,A,R010_S,MROH9,Missense_Mutation,NM_001163629,exon14,c.G1457A,p.G486E,SNP,SNVindel,exonic,MROH9,NA,nonsynonymous SNV,"MROH9:NM_001163629:exon14:c.G1457A:p.G486E,MROH9:NM_025063:exon14:c.G1457A:p.G486E",D,N,N,T,D,T
chr1,171557550,171557550,G,A,R010_S,PRRC2C,Missense_Mutation,NM_015172,exon33,c.G8099A,p.S2700N,SNP,SNVindel,exonic,PRRC2C,NA,nonsynonymous SNV,PRRC2C:NM_015172:exon33:c.G8099A:p.S2700N,T,.,D,T,N,T
chr1,171605420,171605420,C,T,R010_S,MYOC,Missense_Mutation,NM_000261,exon3,c.G1160A,p.G387D,SNP,SNVindel,exonic,MYOC,NA,nonsynonymous SNV,MYOC:NM_000261:exon3:c.G1160A:p.G387D,D,N,D,D,D,D
chr1,171621410,171621410,C,T,R010_S,MYOC,Silent,NM_000261,exon1,c.G342A,p.Q114Q,SNP,SNVindel,exonic,MYOC,NA,synonymous SNV,MYOC:NM_000261:exon1:c.G342A:p.Q114Q,NA,NA,NA,NA,NA,NA
chr1,173839558,173839558,G,A,R010_S,ZBTB37,Silent,NM_001122770,exon3,c.G195A,p.E65E,SNP,SNVindel,exonic,ZBTB37,NA,synonymous SNV,"ZBTB37:NM_001122770:exon3:c.G195A:p.E65E,ZBTB37:NM_001346115:exon3:c.G195A:p.E65E,ZBTB37:NM_001369846:exon3:c.G195A:p.E65E,ZBTB37:NM_032522:exon3:c.G195A:p.E65E",NA,NA,NA,NA,NA,NA
chr1,174417809,174417809,G,A,R010_S,GPR52,Missense_Mutation,NM_005684,exon1,c.G560A,p.G187D,SNP,SNVindel,exonic,GPR52,NA,nonsynonymous SNV,GPR52:NM_005684:exon1:c.G560A:p.G187D,T,D,D,T,N,T
chr1,175097233,175097233,C,T,R010_S,TNN,Silent,NM_022093,exon14,c.C3111T,p.Y1037Y,SNP,SNVindel,exonic,TNN,NA,synonymous SNV,TNN:NM_022093:exon14:c.C3111T:p.Y1037Y,NA,NA,NA,NA,NA,NA
chr1,175363020,175363020,G,A,R010_S,TNR,Missense_Mutation,NM_001328635,exon6,c.C253T,p.P85S,SNP,SNVindel,exonic,TNR,NA,nonsynonymous SNV,"TNR:NM_001328635:exon6:c.C253T:p.P85S,TNR:NM_003285:exon6:c.C1252T:p.P418S",D,D,D,T,D,D
chr1,176740186,176740186,C,T,R010_S,PAPPA2,Missense_Mutation,NM_020318,exon17,c.C4585T,p.P1529S,SNP,SNVindel,exonic,PAPPA2,NA,nonsynonymous SNV,PAPPA2:NM_020318:exon17:c.C4585T:p.P1529S,D,D,D,T,D,T
chr1,178269201,178269201,C,T,R010_S,RASAL2,Silent,NM_170692,exon3,c.C405T,p.V135V,SNP,SNVindel,exonic,RASAL2,NA,synonymous SNV,RASAL2:NM_170692:exon3:c.C405T:p.V135V,NA,NA,NA,NA,NA,NA
chr1,179320530,179320530,G,A,R010_S,SOAT1,Missense_Mutation,NM_001252511,exon14,c.G1355A,p.G452D,SNP,SNVindel,exonic,SOAT1,NA,nonsynonymous SNV,"SOAT1:NM_001252511:exon14:c.G1355A:p.G452D,SOAT1:NM_001252512:exon14:c.G1334A:p.G445D,SOAT1:NM_003101:exon15:c.G1529A:p.G510D",D,D,D,T,D,D
chr1,179503978,179503978,G,A,R010_S,AXDND1,Missense_Mutation,NM_144696,exon25,c.G2912A,p.R971K,SNP,SNVindel,exonic,AXDND1,NA,nonsynonymous SNV,AXDND1:NM_144696:exon25:c.G2912A:p.R971K,T,N,N,T,N,T
chr1,180062075,180062075,G,A,R010_S,CEP350,Missense_Mutation,NM_014810,exon34,c.G6835A,p.G2279S,SNP,SNVindel,exonic,CEP350,NA,nonsynonymous SNV,CEP350:NM_014810:exon34:c.G6835A:p.G2279S,T,U,N,T,N,T
chr1,180151342,180151342,G,A,R010_S,QSOX1,Missense_Mutation,NM_001004128,exon6,c.G640A,p.A214T,SNP,SNVindel,exonic,QSOX1,NA,nonsynonymous SNV,"QSOX1:NM_001004128:exon6:c.G640A:p.A214T,QSOX1:NM_002826:exon6:c.G640A:p.A214T",T,N,N,T,N,T
chr1,181019244,181019244,G,A,R010_S,MR1,Silent,NM_001195000,exon4,c.G426A,p.L142L,SNP,SNVindel,exonic,MR1,NA,synonymous SNV,"MR1:NM_001195000:exon4:c.G426A:p.L142L,MR1:NM_001195035:exon4:c.G426A:p.L142L,MR1:NM_001531:exon4:c.G426A:p.L142L,MR1:NM_001310213:exon5:c.G213A:p.L71L",NA,NA,NA,NA,NA,NA
chr1,181688914,181688914,G,A,R010_S,CACNA1E,Missense_Mutation,NM_000721,exon13,c.G1666A,p.V556I,SNP,SNVindel,exonic,CACNA1E,NA,nonsynonymous SNV,"CACNA1E:NM_000721:exon13:c.G1666A:p.V556I,CACNA1E:NM_001205293:exon13:c.G1666A:p.V556I,CACNA1E:NM_001205294:exon13:c.G1666A:p.V556I",T,N,D,D,N,D
chr1,182369287,182369287,G,A,R010_S,TEDDM1,Silent,NM_172000,exon1,c.C334T,p.L112L,SNP,SNVindel,exonic,TEDDM1,NA,synonymous SNV,TEDDM1:NM_172000:exon1:c.C334T:p.L112L,NA,NA,NA,NA,NA,NA
chr1,182369600,182369600,G,A,R010_S,TEDDM1,Silent,NM_172000,exon1,c.C21T,p.L7L,SNP,SNVindel,exonic,TEDDM1,NA,synonymous SNV,TEDDM1:NM_172000:exon1:c.C21T:p.L7L,NA,NA,NA,NA,NA,NA
chr1,183094675,183094675,G,A,R010_S,LAMC1,Missense_Mutation,NM_002293,exon15,c.G2791A,p.G931S,SNP,SNVindel,exonic,LAMC1,NA,nonsynonymous SNV,LAMC1:NM_002293:exon15:c.G2791A:p.G931S,D,D,D,T,D,D
chr1,183933114,183933114,G,A,R010_S,COLGALT2,Silent,NM_001303420,exon6,c.C873T,p.Y291Y,SNP,SNVindel,exonic,COLGALT2,NA,synonymous SNV,"COLGALT2:NM_001303420:exon6:c.C873T:p.Y291Y,COLGALT2:NM_001303421:exon6:c.C513T:p.Y171Y,COLGALT2:NM_015101:exon6:c.C873T:p.Y291Y",NA,NA,NA,NA,NA,NA
chr1,184775104,184775104,C,T,R010_S,NIBAN1,Silent,NM_052966,exon11,c.G1422A,p.E474E,SNP,SNVindel,exonic,NIBAN1,NA,synonymous SNV,NIBAN1:NM_052966:exon11:c.G1422A:p.E474E,NA,NA,NA,NA,NA,NA
chr1,185069041,185069041,G,A,R010_S,RNF2,Missense_Mutation,NM_007212,exon6,c.G856A,p.A286T,SNP,SNVindel,exonic,RNF2,NA,nonsynonymous SNV,RNF2:NM_007212:exon6:c.G856A:p.A286T,T,D,D,D,N,T
chr1,185069413,185069413,C,T,R010_S,RNF2,Missense_Mutation,NM_007212,exon7,c.C991T,p.P331S,SNP,SNVindel,exonic,RNF2,NA,nonsynonymous SNV,RNF2:NM_007212:exon7:c.C991T:p.P331S,D,D,D,D,N,T
chr1,185269362,185269362,G,A,R010_S,IVNS1ABP,Silent,NM_006469,exon12,c.C1356T,p.N452N,SNP,SNVindel,exonic,IVNS1ABP,NA,synonymous SNV,IVNS1ABP:NM_006469:exon12:c.C1356T:p.N452N,NA,NA,NA,NA,NA,NA
chr1,186101507,186101507,G,A,R010_S,HMCN1,Silent,NM_031935,exon86,c.G13278A,p.G4426G,SNP,SNVindel,exonic,HMCN1,NA,synonymous SNV,HMCN1:NM_031935:exon86:c.G13278A:p.G4426G,NA,NA,NA,NA,NA,NA
chr1,186925344,186925344,G,A,R010_S,PLA2G4A,Missense_Mutation,NM_001311193,exon12,c.G1267A,p.E423K,SNP,SNVindel,exonic,PLA2G4A,NA,nonsynonymous SNV,"PLA2G4A:NM_001311193:exon12:c.G1267A:p.E423K,PLA2G4A:NM_024420:exon14:c.G1447A:p.E483K",T,D,D,T,N,T
chr1,193181532,193181532,C,T,R010_S,CDC73,Missense_Mutation,NM_024529,exon13,c.C1079T,p.P360L,SNP,SNVindel,exonic,CDC73,NA,nonsynonymous SNV,CDC73:NM_024529:exon13:c.C1079T:p.P360L,D,D,D,D,D,D
chr1,197115370,197115370,G,A,R010_S,ASPM,Silent,NM_001206846,exon1,c.C198T,p.A66A,SNP,SNVindel,exonic,ASPM,NA,synonymous SNV,"ASPM:NM_001206846:exon1:c.C198T:p.A66A,ASPM:NM_018136:exon1:c.C198T:p.A66A",NA,NA,NA,NA,NA,NA
chr1,200633087,200633087,G,A,R010_S,DDX59,Missense_Mutation,NM_001320182,exon2,c.C932T,p.P311L,SNP,SNVindel,exonic,DDX59,NA,nonsynonymous SNV,"DDX59:NM_001320182:exon2:c.C932T:p.P311L,DDX59:NM_001031725:exon3:c.C932T:p.P311L,DDX59:NM_001320181:exon3:c.C932T:p.P311L,DDX59:NM_001349799:exon3:c.C932T:p.P311L,DDX59:NM_001349800:exon3:c.C932T:p.P311L,DDX59:NM_001349801:exon3:c.C932T:p.P311L,DDX59:NM_001349802:exon3:c.C932T:p.P311L,DDX59:NM_001349803:exon3:c.C932T:p.P311L,DDX59:NM_001349804:exon3:c.C932T:p.P311L",D,D,D,T,D,T
chr1,200878052,200878052,C,T,R010_S,INAVA,Missense_Mutation,NM_001142569,exon7,c.C769T,p.P257S,SNP,SNVindel,exonic,INAVA,NA,nonsynonymous SNV,"INAVA:NM_001142569:exon7:c.C769T:p.P257S,INAVA:NM_001367289:exon7:c.C769T:p.P257S,INAVA:NM_001367290:exon7:c.C232T:p.P78S,INAVA:NM_018265:exon7:c.C1024T:p.P342S",T,N,N,T,N,T
chr1,201029847,201029847,G,A,R010_S,CACNA1S,Missense_Mutation,NM_000069,exon26,c.C3353T,p.S1118F,SNP,SNVindel,exonic,CACNA1S,NA,nonsynonymous SNV,CACNA1S:NM_000069:exon26:c.C3353T:p.S1118F,D,D,D,D,D,D
chr1,201030573,201030573,G,A,R010_S,CACNA1S,Missense_Mutation,NM_000069,exon25,c.C3077T,p.S1026F,SNP,SNVindel,exonic,CACNA1S,NA,nonsynonymous SNV,CACNA1S:NM_000069:exon25:c.C3077T:p.S1026F,D,D,D,D,D,D
chr1,201104874,201104874,C,T,R010_S,TMEM9,Missense_Mutation,NM_001288565,exon5,c.G469A,p.V157M,SNP,SNVindel,exonic,TMEM9,NA,nonsynonymous SNV,"TMEM9:NM_001288565:exon5:c.G469A:p.V157M,TMEM9:NM_001288564:exon6:c.G469A:p.V157M,TMEM9:NM_001288566:exon6:c.G469A:p.V157M,TMEM9:NM_001288567:exon6:c.G469A:p.V157M,TMEM9:NM_001288568:exon6:c.G469A:p.V157M,TMEM9:NM_001288569:exon6:c.G469A:p.V157M,TMEM9:NM_001288570:exon6:c.G478A:p.V160M,TMEM9:NM_001288571:exon6:c.G544A:p.V182M,TMEM9:NM_016456:exon6:c.G469A:p.V157M",D,N,D,.,N,T
chr1,201163340,201163340,C,T,R010_S,IGFN1,Silent,NM_001164586,exon3,c.C66T,p.I22I,SNP,SNVindel,exonic,IGFN1,NA,synonymous SNV,"IGFN1:NM_001164586:exon3:c.C66T:p.I22I,IGFN1:NM_001367841:exon3:c.C66T:p.I22I",NA,NA,NA,NA,NA,NA
chr1,201165011,201165011,C,T,R010_S,IGFN1,Missense_Mutation,NM_001164586,exon4,c.C172T,p.P58S,SNP,SNVindel,exonic,IGFN1,NA,nonsynonymous SNV,"IGFN1:NM_001164586:exon4:c.C172T:p.P58S,IGFN1:NM_001367841:exon4:c.C172T:p.P58S",D,.,D,T,D,D
chr1,201177019,201177019,G,A,R010_S,IGFN1,Missense_Mutation,NM_001164586,exon12,c.G2998A,p.G1000R,SNP,SNVindel,exonic,IGFN1,NA,nonsynonymous SNV,IGFN1:NM_001164586:exon12:c.G2998A:p.G1000R,D,.,N,T,D,T
chr1,201182572,201182572,G,A,R010_S,IGFN1,Missense_Mutation,NM_001164586,exon12,c.G8551A,p.G2851R,SNP,SNVindel,exonic,IGFN1,NA,nonsynonymous SNV,IGFN1:NM_001164586:exon12:c.G8551A:p.G2851R,D,U,N,T,N,T
chr1,201823761,201823761,G,A,R010_S,IPO9,Silent,NM_018085,exon7,c.G729A,p.Q243Q,SNP,SNVindel,exonic,IPO9,NA,synonymous SNV,IPO9:NM_018085:exon7:c.G729A:p.Q243Q,NA,NA,NA,NA,NA,NA
chr1,201981224,201981224,C,T,R010_S,ELF3,Silent,NM_001114309,exon3,c.C303T,p.T101T,SNP,SNVindel,exonic,ELF3,NA,synonymous SNV,"ELF3:NM_001114309:exon3:c.C303T:p.T101T,ELF3:NM_004433:exon3:c.C303T:p.T101T",NA,NA,NA,NA,NA,NA
chr1,201981777,201981777,G,A,R010_S,ELF3,Missense_Mutation,NM_001114309,exon5,c.G488A,p.S163N,SNP,SNVindel,exonic,ELF3,NA,nonsynonymous SNV,"ELF3:NM_001114309:exon5:c.G488A:p.S163N,ELF3:NM_004433:exon5:c.G488A:p.S163N",T,N,N,T,N,T
chr1,202933807,202933807,C,T,R010_S,CYB5R1,Silent,NM_016243,exon6,c.G492A,p.Q164Q,SNP,SNVindel,exonic,CYB5R1,NA,synonymous SNV,CYB5R1:NM_016243:exon6:c.G492A:p.Q164Q,NA,NA,NA,NA,NA,NA
chr1,203144836,203144836,C,T,R010_S,MYBPH,Silent,NM_004997,exon1,c.G48A,p.E16E,SNP,SNVindel,exonic,MYBPH,NA,synonymous SNV,MYBPH:NM_004997:exon1:c.G48A:p.E16E,NA,NA,NA,NA,NA,NA
chr1,203150369,203150369,G,A,R010_S,CHI3L1,Missense_Mutation,NM_001276,exon7,c.C632T,p.A211V,SNP,SNVindel,exonic,CHI3L1,NA,nonsynonymous SNV,CHI3L1:NM_001276:exon7:c.C632T:p.A211V,D,N,N,T,N,T
chr1,204953190,204953190,G,A,R010_S,NFASC,Missense_Mutation,NM_001160331,exon20,c.G2539A,p.V847I,SNP,SNVindel,exonic,NFASC,NA,nonsynonymous SNV,"NFASC:NM_001160331:exon20:c.G2539A:p.V847I,NFASC:NM_001160332:exon21:c.G2494A:p.V832I,NFASC:NM_015090:exon21:c.G2494A:p.V832I",T,D,D,T,N,T
chr1,205492761,205492761,C,T,R010_S,CDK18,Missense_Mutation,NM_212503,exon3,c.C281T,p.A94V,SNP,SNVindel,exonic,CDK18,NA,nonsynonymous SNV,CDK18:NM_212503:exon3:c.C281T:p.A94V,T,N,N,T,N,T
chr1,205632569,205632569,G,A,R010_S,SLC45A3,Missense_Mutation,NM_033102,exon3,c.C350T,p.P117L,SNP,SNVindel,exonic,SLC45A3,NA,nonsynonymous SNV,SLC45A3:NM_033102:exon3:c.C350T:p.P117L,T,N,D,D,N,T
chr1,205801847,205801847,G,A,R010_S,PM20D1,Silent,NM_152491,exon11,c.C1164T,p.F388F,SNP,SNVindel,exonic,PM20D1,NA,synonymous SNV,PM20D1:NM_152491:exon11:c.C1164T:p.F388F,NA,NA,NA,NA,NA,NA
chr1,205813951,205813951,G,A,R010_S,PM20D1,Silent,NM_152491,exon4,c.C564T,p.G188G,SNP,SNVindel,exonic,PM20D1,NA,synonymous SNV,PM20D1:NM_152491:exon4:c.C564T:p.G188G,NA,NA,NA,NA,NA,NA
chr1,206231049,206231049,C,T,R010_S,AVPR1B,Silent,NM_000707,exon2,c.C1182T,p.S394S,SNP,SNVindel,exonic,AVPR1B,NA,synonymous SNV,AVPR1B:NM_000707:exon2:c.C1182T:p.S394S,.,.,.,.,.,.
chr1,206760160,206760160,G,A,R010_S,RASSF5,Nonsense_Mutation,NM_182665,exon5,c.G648A,p.W216X,SNP,SNVindel,exonic,RASSF5,NA,stopgain,"RASSF5:NM_182665:exon5:c.G648A:p.W216X,RASSF5:NM_182663:exon6:c.G1107A:p.W369X",.,.,D,T,.,T
chr1,206760215,206760215,G,A,R010_S,RASSF5,Missense_Mutation,NM_182665,exon5,c.G703A,p.E235K,SNP,SNVindel,exonic,RASSF5,NA,nonsynonymous SNV,"RASSF5:NM_182665:exon5:c.G703A:p.E235K,RASSF5:NM_182663:exon6:c.G1162A:p.E388K",.,D,D,T,.,T
chr1,206820827,206820827,G,A,R010_S,DYRK3,Missense_Mutation,NM_003582,exon3,c.G284A,p.R95K,SNP,SNVindel,exonic,DYRK3,NA,nonsynonymous SNV,"DYRK3:NM_003582:exon3:c.G284A:p.R95K,DYRK3:NM_001004023:exon4:c.G224A:p.R75K",T,N,N,T,N,T
chr1,207134236,207134236,C,T,R010_S,FCAMR,Missense_Mutation,NM_001170631,exon6,c.G985A,p.G329S,SNP,SNVindel,exonic,FCAMR,NA,nonsynonymous SNV,FCAMR:NM_001170631:exon6:c.G985A:p.G329S,T,N,N,T,N,T
chr1,207644123,207644123,G,A,R010_S,CR2,Missense_Mutation,NM_001006658,exon7,c.G1264A,p.E422K,SNP,SNVindel,exonic,CR2,NA,nonsynonymous SNV,"CR2:NM_001006658:exon7:c.G1264A:p.E422K,CR2:NM_001877:exon7:c.G1264A:p.E422K",T,.,N,T,N,T
chr1,207780662,207780662,G,A,R010_S,CR1,Silent,NM_000573,exon28,c.G4527A,p.K1509K,SNP,SNVindel,exonic,CR1,NA,synonymous SNV,"CR1:NM_000573:exon28:c.G4527A:p.K1509K,CR1:NM_000651:exon36:c.G5877A:p.K1959K",NA,NA,NA,NA,NA,NA
chr1,207790101,207790101,G,A,R010_S,CR1,Silent,NM_000573,exon33,c.G5493A,p.G1831G,SNP,SNVindel,exonic,CR1,NA,synonymous SNV,"CR1:NM_000573:exon33:c.G5493A:p.G1831G,CR1:NM_000651:exon41:c.G6843A:p.G2281G",NA,NA,NA,NA,NA,NA
chr1,208252642,208252642,C,T,R010_S,PLXNA2,Missense_Mutation,NM_025179,exon12,c.G2549A,p.S850N,SNP,SNVindel,exonic,PLXNA2,NA,nonsynonymous SNV,PLXNA2:NM_025179:exon12:c.G2549A:p.S850N,T,D,D,T,N,T
chr1,209811319,209811319,G,A,R010_S,LAMB3,Silent,NM_001017402,exon4,c.C306T,p.N102N,SNP,SNVindel,exonic,LAMB3,NA,synonymous SNV,"LAMB3:NM_001017402:exon4:c.C306T:p.N102N,LAMB3:NM_000228:exon5:c.C306T:p.N102N,LAMB3:NM_001127641:exon5:c.C306T:p.N102N",NA,NA,NA,NA,NA,NA
chr1,210948720,210948720,G,A,R010_S,KCNH1,Silent,NM_002238,exon10,c.C2001T,p.N667N,SNP,SNVindel,exonic,KCNH1,NA,synonymous SNV,"KCNH1:NM_002238:exon10:c.C2001T:p.N667N,KCNH1:NM_172362:exon10:c.C2082T:p.N694N",NA,NA,NA,NA,NA,NA
chr1,211654591,211654591,G,A,R010_S,RD3,Missense_Mutation,NM_001164688,exon2,c.C167T,p.T56I,SNP,SNVindel,exonic,RD3,NA,nonsynonymous SNV,"RD3:NM_001164688:exon2:c.C167T:p.T56I,RD3:NM_183059:exon2:c.C167T:p.T56I",D,D,D,T,D,T
chr1,212002431,212002431,C,T,R010_S,LPGAT1,Missense_Mutation,NM_001320808,exon2,c.G208A,p.A70T,SNP,SNVindel,exonic,LPGAT1,NA,nonsynonymous SNV,"LPGAT1:NM_001320808:exon2:c.G208A:p.A70T,LPGAT1:NM_014873:exon2:c.G208A:p.A70T",T,D,D,D,N,D
chr1,212208753,212208753,G,A,R010_S,INTS7,Silent,NM_001199809,exon1,c.C27T,p.F9F,SNP,SNVindel,exonic,INTS7,NA,synonymous SNV,"INTS7:NM_001199809:exon1:c.C27T:p.F9F,INTS7:NM_001199811:exon1:c.C27T:p.F9F,INTS7:NM_001199812:exon1:c.C27T:p.F9F,INTS7:NM_015434:exon1:c.C27T:p.F9F",NA,NA,NA,NA,NA,NA
chr1,212273844,212273844,G,A,R010_S,DTL,Nonsense_Mutation,NM_001286229,exon12,c.G699A,p.W233X,SNP,SNVindel,exonic,DTL,NA,stopgain,"DTL:NM_001286229:exon12:c.G699A:p.W233X,DTL:NM_001286230:exon13:c.G1386A:p.W462X,DTL:NM_016448:exon14:c.G1512A:p.W504X",.,D,A,.,.,.
chr1,213178714,213178714,G,A,R010_S,ANGEL2,Silent,NM_001300757,exon4,c.C288T,p.L96L,SNP,SNVindel,exonic,ANGEL2,NA,synonymous SNV,"ANGEL2:NM_001300757:exon4:c.C288T:p.L96L,ANGEL2:NM_001300758:exon4:c.C288T:p.L96L,ANGEL2:NM_001300753:exon5:c.C417T:p.L139L,ANGEL2:NM_001300755:exon5:c.C417T:p.L139L,ANGEL2:NM_144567:exon5:c.C795T:p.L265L",NA,NA,NA,NA,NA,NA
chr1,213414395,213414395,C,T,R010_S,RPS6KC1,Missense_Mutation,NM_001349663,exon6,c.C181T,p.P61S,SNP,SNVindel,exonic,RPS6KC1,NA,nonsynonymous SNV,"RPS6KC1:NM_001349663:exon6:c.C181T:p.P61S,RPS6KC1:NM_001349665:exon7:c.C181T:p.P61S,RPS6KC1:NM_001349667:exon8:c.C181T:p.P61S,RPS6KC1:NM_001349670:exon8:c.C181T:p.P61S,RPS6KC1:NM_001349672:exon8:c.C181T:p.P61S,RPS6KC1:NM_001287220:exon9:c.C181T:p.P61S,RPS6KC1:NM_001349657:exon9:c.C685T:p.P229S,RPS6KC1:NM_001349664:exon9:c.C181T:p.P61S,RPS6KC1:NM_001349671:exon9:c.C181T:p.P61S,RPS6KC1:NM_001136138:exon10:c.C1540T:p.P514S,RPS6KC1:NM_001287221:exon10:c.C1033T:p.P345S,RPS6KC1:NM_001349646:exon10:c.C1483T:p.P495S,RPS6KC1:NM_001349647:exon10:c.C1213T:p.P405S,RPS6KC1:NM_001349666:exon10:c.C181T:p.P61S,RPS6KC1:NM_001349668:exon10:c.C181T:p.P61S,RPS6KC1:NM_001287218:exon11:c.C940T:p.P314S,RPS6KC1:NM_001287219:exon11:c.C940T:p.P314S,RPS6KC1:NM_001349658:exon11:c.C685T:p.P229S,RPS6KC1:NM_001349661:exon11:c.C520T:p.P174S,RPS6KC1:NM_001349669:exon11:c.C181T:p.P61S,RPS6KC1:NM_012424:exon11:c.C1576T:p.P526S,RPS6KC1:NM_001349648:exon12:c.C1033T:p.P345S,RPS6KC1:NM_001349649:exon12:c.C1033T:p.P345S,RPS6KC1:NM_001349653:exon12:c.C1033T:p.P345S,RPS6KC1:NM_001349654:exon12:c.C940T:p.P314S,RPS6KC1:NM_001349662:exon12:c.C520T:p.P174S,RPS6KC1:NM_001349650:exon13:c.C1033T:p.P345S,RPS6KC1:NM_001349652:exon13:c.C1033T:p.P345S,RPS6KC1:NM_001349659:exon13:c.C520T:p.P174S,RPS6KC1:NM_001349651:exon14:c.C1033T:p.P345S,RPS6KC1:NM_001349660:exon14:c.C520T:p.P174S",T,D,D,T,N,T
chr1,213414399,213414399,G,A,R010_S,RPS6KC1,Missense_Mutation,NM_001349663,exon6,c.G185A,p.G62E,SNP,SNVindel,exonic,RPS6KC1,NA,nonsynonymous SNV,"RPS6KC1:NM_001349663:exon6:c.G185A:p.G62E,RPS6KC1:NM_001349665:exon7:c.G185A:p.G62E,RPS6KC1:NM_001349667:exon8:c.G185A:p.G62E,RPS6KC1:NM_001349670:exon8:c.G185A:p.G62E,RPS6KC1:NM_001349672:exon8:c.G185A:p.G62E,RPS6KC1:NM_001287220:exon9:c.G185A:p.G62E,RPS6KC1:NM_001349657:exon9:c.G689A:p.G230E,RPS6KC1:NM_001349664:exon9:c.G185A:p.G62E,RPS6KC1:NM_001349671:exon9:c.G185A:p.G62E,RPS6KC1:NM_001136138:exon10:c.G1544A:p.G515E,RPS6KC1:NM_001287221:exon10:c.G1037A:p.G346E,RPS6KC1:NM_001349646:exon10:c.G1487A:p.G496E,RPS6KC1:NM_001349647:exon10:c.G1217A:p.G406E,RPS6KC1:NM_001349666:exon10:c.G185A:p.G62E,RPS6KC1:NM_001349668:exon10:c.G185A:p.G62E,RPS6KC1:NM_001287218:exon11:c.G944A:p.G315E,RPS6KC1:NM_001287219:exon11:c.G944A:p.G315E,RPS6KC1:NM_001349658:exon11:c.G689A:p.G230E,RPS6KC1:NM_001349661:exon11:c.G524A:p.G175E,RPS6KC1:NM_001349669:exon11:c.G185A:p.G62E,RPS6KC1:NM_012424:exon11:c.G1580A:p.G527E,RPS6KC1:NM_001349648:exon12:c.G1037A:p.G346E,RPS6KC1:NM_001349649:exon12:c.G1037A:p.G346E,RPS6KC1:NM_001349653:exon12:c.G1037A:p.G346E,RPS6KC1:NM_001349654:exon12:c.G944A:p.G315E,RPS6KC1:NM_001349662:exon12:c.G524A:p.G175E,RPS6KC1:NM_001349650:exon13:c.G1037A:p.G346E,RPS6KC1:NM_001349652:exon13:c.G1037A:p.G346E,RPS6KC1:NM_001349659:exon13:c.G524A:p.G175E,RPS6KC1:NM_001349651:exon14:c.G1037A:p.G346E,RPS6KC1:NM_001349660:exon14:c.G524A:p.G175E",D,N,N,T,N,T
chr1,214170514,214170514,G,A,R010_S,PROX1,Silent,NM_001270616,exon2,c.G636A,p.K212K,SNP,SNVindel,exonic,PROX1,NA,synonymous SNV,"PROX1:NM_001270616:exon2:c.G636A:p.K212K,PROX1:NM_002763:exon2:c.G636A:p.K212K",NA,NA,NA,NA,NA,NA
chr1,214813881,214813881,G,A,R010_S,CENPF,Missense_Mutation,NM_016343,exon12,c.G2200A,p.D734N,SNP,SNVindel,exonic,CENPF,NA,nonsynonymous SNV,CENPF:NM_016343:exon12:c.G2200A:p.D734N,D,N,N,T,N,T
chr1,214815027,214815027,G,A,R010_S,CENPF,Missense_Mutation,NM_016343,exon12,c.G3346A,p.D1116N,SNP,SNVindel,exonic,CENPF,NA,nonsynonymous SNV,CENPF:NM_016343:exon12:c.G3346A:p.D1116N,T,N,N,T,N,T
chr1,214819919,214819919,G,A,R010_S,CENPF,Missense_Mutation,NM_016343,exon13,c.G7006A,p.G2336S,SNP,SNVindel,exonic,CENPF,NA,nonsynonymous SNV,CENPF:NM_016343:exon13:c.G7006A:p.G2336S,T,N,N,T,N,T
chr1,214830573,214830573,C,T,R010_S,CENPF,Missense_Mutation,NM_016343,exon18,c.C8783T,p.A2928V,SNP,SNVindel,exonic,CENPF,NA,nonsynonymous SNV,CENPF:NM_016343:exon18:c.C8783T:p.A2928V,T,N,N,T,N,T
chr1,215775224,215775224,C,T,R010_S,KCTD3,Missense_Mutation,NM_001319294,exon11,c.C949T,p.P317S,SNP,SNVindel,exonic,KCTD3,NA,nonsynonymous SNV,"KCTD3:NM_001319294:exon11:c.C949T:p.P317S,KCTD3:NM_001319295:exon11:c.C643T:p.P215S,KCTD3:NM_016121:exon11:c.C949T:p.P317S",D,D,D,T,D,T
chr1,216680326,216680326,G,A,R010_S,ESRRG,Silent,NM_001243505,exon7,c.C579T,p.V193V,SNP,SNVindel,exonic,ESRRG,NA,synonymous SNV,"ESRRG:NM_001243505:exon7:c.C579T:p.V193V,ESRRG:NM_001243506:exon7:c.C777T:p.V259V,ESRRG:NM_001243514:exon7:c.C1263T:p.V421V,ESRRG:NM_001438:exon7:c.C1332T:p.V444V,ESRRG:NM_001243507:exon8:c.C1146T:p.V382V,ESRRG:NM_001243511:exon8:c.C1263T:p.V421V,ESRRG:NM_001243513:exon8:c.C1263T:p.V421V,ESRRG:NM_001243518:exon8:c.C1368T:p.V456V,ESRRG:NM_206595:exon8:c.C1263T:p.V421V,ESRRG:NM_001134285:exon9:c.C1263T:p.V421V,ESRRG:NM_001243509:exon9:c.C1263T:p.V421V,ESRRG:NM_001243510:exon9:c.C1263T:p.V421V,ESRRG:NM_001243512:exon9:c.C1263T:p.V421V,ESRRG:NM_001243515:exon9:c.C1263T:p.V421V,ESRRG:NM_001243519:exon9:c.C1263T:p.V421V,ESRRG:NM_001350123:exon9:c.C1263T:p.V421V,ESRRG:NM_001350125:exon9:c.C1263T:p.V421V,ESRRG:NM_206594:exon9:c.C1263T:p.V421V,ESRRG:NM_001350122:exon10:c.C1263T:p.V421V,ESRRG:NM_001350124:exon10:c.C1263T:p.V421V",NA,NA,NA,NA,NA,NA
chr1,216850625,216850625,G,A,R010_S,ESRRG,Missense_Mutation,NM_001243514,exon2,c.C196T,p.P66S,SNP,SNVindel,exonic,ESRRG,NA,nonsynonymous SNV,"ESRRG:NM_001243514:exon2:c.C196T:p.P66S,ESRRG:NM_001438:exon2:c.C265T:p.P89S,ESRRG:NM_001243511:exon3:c.C196T:p.P66S,ESRRG:NM_001243513:exon3:c.C196T:p.P66S,ESRRG:NM_001243518:exon3:c.C280T:p.P94S,ESRRG:NM_206595:exon3:c.C196T:p.P66S,ESRRG:NM_001134285:exon4:c.C196T:p.P66S,ESRRG:NM_001243507:exon4:c.C196T:p.P66S,ESRRG:NM_001243509:exon4:c.C196T:p.P66S,ESRRG:NM_001243510:exon4:c.C196T:p.P66S,ESRRG:NM_001243512:exon4:c.C196T:p.P66S,ESRRG:NM_001243515:exon4:c.C196T:p.P66S,ESRRG:NM_001243519:exon4:c.C196T:p.P66S,ESRRG:NM_001350123:exon4:c.C196T:p.P66S,ESRRG:NM_001350125:exon4:c.C196T:p.P66S,ESRRG:NM_206594:exon4:c.C196T:p.P66S,ESRRG:NM_001350122:exon5:c.C196T:p.P66S,ESRRG:NM_001350124:exon5:c.C196T:p.P66S",T,D,D,D,N,T
chr1,220364521,220364521,C,T,R010_S,RAB3GAP2,Missense_Mutation,NM_012414,exon14,c.G1376A,p.S459N,SNP,SNVindel,exonic,RAB3GAP2,NA,nonsynonymous SNV,RAB3GAP2:NM_012414:exon14:c.G1376A:p.S459N,T,D,D,T,N,T
chr1,220445675,220445675,G,A,R010_S,RAB3GAP2,Missense_Mutation,NM_012414,exon1,c.C5T,p.A2V,SNP,SNVindel,exonic,RAB3GAP2,NA,nonsynonymous SNV,RAB3GAP2:NM_012414:exon1:c.C5T:p.A2V,D,D,D,T,N,T
chr1,221053473,221053473,C,T,R010_S,HLX,Missense_Mutation,NM_021958,exon1,c.C274T,p.P92S,SNP,SNVindel,exonic,HLX,NA,nonsynonymous SNV,HLX:NM_021958:exon1:c.C274T:p.P92S,D,D,D,T,D,T
chr1,221057575,221057575,G,A,R010_S,HLX,Silent,NM_021958,exon4,c.G996A,p.R332R,SNP,SNVindel,exonic,HLX,NA,synonymous SNV,HLX:NM_021958:exon4:c.G996A:p.R332R,NA,NA,NA,NA,NA,NA
chr1,222833106,222833106,G,A,R010_S,MIA3,Missense_Mutation,NM_001300867,exon17,c.G1471A,p.A491T,SNP,SNVindel,exonic,MIA3,NA,nonsynonymous SNV,"MIA3:NM_001300867:exon17:c.G1471A:p.A491T,MIA3:NM_001324065:exon17:c.G1471A:p.A491T,MIA3:NM_001324063:exon20:c.G4660A:p.A1554T,MIA3:NM_001324062:exon22:c.G4837A:p.A1613T,MIA3:NM_198551:exon22:c.G4837A:p.A1613T,MIA3:NM_001324064:exon23:c.G4345A:p.A1449T",T,.,D,T,D,T
chr1,223179050,223179050,G,A,R010_S,DISP1,Silent,NM_001369594,exon8,c.G4311A,p.G1437G,SNP,SNVindel,exonic,DISP1,NA,synonymous SNV,"DISP1:NM_001369594:exon8:c.G4311A:p.G1437G,DISP1:NM_001350630:exon9:c.G3582A:p.G1194G,DISP1:NM_032890:exon10:c.G4311A:p.G1437G",NA,NA,NA,NA,NA,NA
chr1,223566922,223566922,G,A,R010_S,CCDC185,Silent,NM_152610,exon1,c.G105A,p.R35R,SNP,SNVindel,exonic,CCDC185,NA,synonymous SNV,CCDC185:NM_152610:exon1:c.G105A:p.R35R,NA,NA,NA,NA,NA,NA
chr1,226047028,226047028,G,A,R010_S,TMEM63A,Silent,NM_014698,exon15,c.C1245T,p.G415G,SNP,SNVindel,exonic,TMEM63A,NA,synonymous SNV,TMEM63A:NM_014698:exon15:c.C1245T:p.G415G,NA,NA,NA,NA,NA,NA
chr1,227203786,227203786,G,A,R010_S,CDC42BPA,Missense_Mutation,NM_001366010,exon32,c.C4663T,p.P1555S,SNP,SNVindel,exonic,CDC42BPA,NA,nonsynonymous SNV,"CDC42BPA:NM_001366010:exon32:c.C4663T:p.P1555S,CDC42BPA:NM_014826:exon32:c.C4504T:p.P1502S,CDC42BPA:NM_001366011:exon33:c.C4687T:p.P1563S,CDC42BPA:NM_003607:exon33:c.C4747T:p.P1583S,CDC42BPA:NM_001366019:exon34:c.C4786T:p.P1596S",D,D,D,T,D,T
chr1,228109535,228109535,G,A,R010_S,WNT9A,Missense_Mutation,NM_003395,exon4,c.C782T,p.A261V,SNP,SNVindel,exonic,WNT9A,NA,nonsynonymous SNV,WNT9A:NM_003395:exon4:c.C782T:p.A261V,T,U,N,T,N,T
chr1,228402038,228402038,C,T,R010_S,OBSCN,Silent,NM_001098623,exon4,c.C1422T,p.R474R,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon4:c.C1422T:p.R474R,OBSCN:NM_001271223:exon4:c.C1422T:p.R474R,OBSCN:NM_052843:exon4:c.C1422T:p.R474R",NA,NA,NA,NA,NA,NA
chr1,228451858,228451858,G,A,R010_S,OBSCN,Missense_Mutation,NM_001098623,exon16,c.G4627A,p.E1543K,SNP,SNVindel,exonic,OBSCN,NA,nonsynonymous SNV,"OBSCN:NM_001098623:exon16:c.G4627A:p.E1543K,OBSCN:NM_052843:exon16:c.G4627A:p.E1543K,OBSCN:NM_001271223:exon18:c.G5179A:p.E1727K",T,N,D,T,N,T
chr1,228460976,228460976,C,T,R010_S,OBSCN,Missense_Mutation,NM_001271223,exon21,c.C5990T,p.P1997L,SNP,SNVindel,exonic,OBSCN,NA,nonsynonymous SNV,OBSCN:NM_001271223:exon21:c.C5990T:p.P1997L,.,.,D,T,.,T
chr1,228461987,228461987,G,A,R010_S,OBSCN,Missense_Mutation,NM_001098623,exon19,c.G5525A,p.R1842H,SNP,SNVindel,exonic,OBSCN,NA,nonsynonymous SNV,"OBSCN:NM_001098623:exon19:c.G5525A:p.R1842H,OBSCN:NM_052843:exon19:c.G5525A:p.R1842H,OBSCN:NM_001271223:exon23:c.G6650A:p.R2217H",T,N,D,T,N,T
chr1,228471226,228471226,G,A,R010_S,OBSCN,Silent,NM_001098623,exon33,c.G8760A,p.E2920E,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon33:c.G8760A:p.E2920E,OBSCN:NM_052843:exon33:c.G8760A:p.E2920E,OBSCN:NM_001271223:exon38:c.G10047A:p.E3349E",NA,NA,NA,NA,NA,NA
chr1,228525734,228525734,G,A,R010_S,OBSCN,Silent,NM_001098623,exon67,c.G16890A,p.E5630E,SNP,SNVindel,exonic,OBSCN,NA,synonymous SNV,"OBSCN:NM_001098623:exon67:c.G16890A:p.E5630E,OBSCN:NM_052843:exon67:c.G16890A:p.E5630E,OBSCN:NM_001271223:exon78:c.G19761A:p.E6587E",NA,NA,NA,NA,NA,NA
chr1,228612828,228612828,G,A,R010_S,HIST3H3,Missense_Mutation,NM_003493,exon1,c.C199T,p.P67S,SNP,SNVindel,exonic,HIST3H3,NA,nonsynonymous SNV,HIST3H3:NM_003493:exon1:c.C199T:p.P67S,.,N,D,T,D,D
chr1,228680868,228680868,C,T,R010_S,RNF187,Missense_Mutation,NM_001010858,exon3,c.C598T,p.P200S,SNP,SNVindel,exonic,RNF187,NA,nonsynonymous SNV,RNF187:NM_001010858:exon3:c.C598T:p.P200S,.,N,N,.,.,T
chr1,229657361,229657361,G,A,R010_S,ABCB10,Missense_Mutation,NM_012089,exon11,c.C1928T,p.A643V,SNP,SNVindel,exonic,ABCB10,NA,nonsynonymous SNV,ABCB10:NM_012089:exon11:c.C1928T:p.A643V,D,D,D,D,D,D
chr1,229771722,229771722,T,C,R010_S,URB2,Silent,NM_001314021,exon4,c.T1362C,p.R454R,SNP,SNVindel,exonic,URB2,NA,synonymous SNV,"URB2:NM_001314021:exon4:c.T1362C:p.R454R,URB2:NM_014777:exon4:c.T1362C:p.R454R",NA,NA,NA,NA,NA,NA
chr1,229773959,229773959,C,T,R010_S,URB2,Missense_Mutation,NM_001314021,exon4,c.C3599T,p.T1200I,SNP,SNVindel,exonic,URB2,NA,nonsynonymous SNV,"URB2:NM_001314021:exon4:c.C3599T:p.T1200I,URB2:NM_014777:exon4:c.C3599T:p.T1200I",T,N,N,T,N,T
chr1,230805112,230805112,G,A,R010_S,COG2,Missense_Mutation,NM_001145036,exon7,c.G605A,p.G202D,SNP,SNVindel,exonic,COG2,NA,nonsynonymous SNV,"COG2:NM_001145036:exon7:c.G605A:p.G202D,COG2:NM_007357:exon7:c.G605A:p.G202D",T,D,D,T,N,T
chr1,230838917,230838917,G,A,R010_S,AGT,Silent,NM_000029,exon5,c.C1428T,p.G476G,SNP,SNVindel,exonic,AGT,NA,synonymous SNV,AGT:NM_000029:exon5:c.C1428T:p.G476G,NA,NA,NA,NA,NA,NA
chr1,230979232,230979232,G,A,R010_S,C1orf198,Silent,NM_001136495,exon3,c.C405T,p.P135P,SNP,SNVindel,exonic,C1orf198,NA,synonymous SNV,"C1orf198:NM_001136495:exon3:c.C405T:p.P135P,C1orf198:NM_032800:exon3:c.C795T:p.P265P,C1orf198:NM_001136494:exon5:c.C681T:p.P227P",NA,NA,NA,NA,NA,NA
chr1,231402024,231402024,G,A,R010_S,GNPAT,Missense_Mutation,NM_001316350,exon7,c.G743A,p.G248E,SNP,SNVindel,exonic,GNPAT,NA,nonsynonymous SNV,"GNPAT:NM_001316350:exon7:c.G743A:p.G248E,GNPAT:NM_014236:exon8:c.G926A:p.G309E",D,D,D,T,D,D
chr1,231664569,231664569,G,A,R010_S,TSNAX,Missense_Mutation,NM_005999,exon1,c.G13A,p.E5K,SNP,SNVindel,exonic,TSNAX,NA,nonsynonymous SNV,TSNAX:NM_005999:exon1:c.G13A:p.E5K,T,D,D,.,N,T
chr1,231829998,231829998,G,A,R010_S,DISC1,Missense_Mutation,NM_001012957,exon2,c.G494A,p.S165N,SNP,SNVindel,exonic,DISC1,NA,nonsynonymous SNV,"DISC1:NM_001012957:exon2:c.G494A:p.S165N,DISC1:NM_001012958:exon2:c.G494A:p.S165N,DISC1:NM_001012959:exon2:c.G494A:p.S165N,DISC1:NM_001164537:exon2:c.G494A:p.S165N,DISC1:NM_001164538:exon2:c.G494A:p.S165N,DISC1:NM_001164539:exon2:c.G494A:p.S165N,DISC1:NM_001164540:exon2:c.G494A:p.S165N,DISC1:NM_001164541:exon2:c.G494A:p.S165N,DISC1:NM_001164542:exon2:c.G494A:p.S165N,DISC1:NM_001164544:exon2:c.G494A:p.S165N,DISC1:NM_001164545:exon2:c.G494A:p.S165N,DISC1:NM_001164546:exon2:c.G494A:p.S165N,DISC1:NM_001164547:exon2:c.G494A:p.S165N,DISC1:NM_001164548:exon2:c.G494A:p.S165N,DISC1:NM_001164549:exon2:c.G494A:p.S165N,DISC1:NM_001164550:exon2:c.G494A:p.S165N,DISC1:NM_001164551:exon2:c.G494A:p.S165N,DISC1:NM_001164552:exon2:c.G494A:p.S165N,DISC1:NM_001164553:exon2:c.G494A:p.S165N,DISC1:NM_001164554:exon2:c.G494A:p.S165N,DISC1:NM_001164555:exon2:c.G494A:p.S165N,DISC1:NM_018662:exon2:c.G494A:p.S165N",T,N,N,T,N,T
chr1,233394397,233394397,G,A,R010_S,PCNX2,Missense_Mutation,NM_014801,exon5,c.C1211T,p.T404I,SNP,SNVindel,exonic,PCNX2,NA,nonsynonymous SNV,PCNX2:NM_014801:exon5:c.C1211T:p.T404I,T,.,N,T,N,T
chr1,234595009,234595009,G,A,R010_S,TARBP1,Silent,NM_005646,exon8,c.C1599T,p.Y533Y,SNP,SNVindel,exonic,TARBP1,NA,synonymous SNV,TARBP1:NM_005646:exon8:c.C1599T:p.Y533Y,NA,NA,NA,NA,NA,NA
chr1,235383621,235383621,G,A,R010_S,ARID4B,Missense_Mutation,NM_001206794,exon15,c.C1403T,p.S468F,SNP,SNVindel,exonic,ARID4B,NA,nonsynonymous SNV,"ARID4B:NM_001206794:exon15:c.C1403T:p.S468F,ARID4B:NM_016374:exon15:c.C1403T:p.S468F,ARID4B:NM_031371:exon15:c.C1403T:p.S468F",D,N,D,T,N,T
chr1,235715483,235715483,C,T,R010_S,GNG4,Missense_Mutation,NM_004485,exon3,c.G154A,p.D52N,SNP,SNVindel,exonic,GNG4,NA,nonsynonymous SNV,"GNG4:NM_004485:exon3:c.G154A:p.D52N,GNG4:NM_001098721:exon4:c.G154A:p.D52N,GNG4:NM_001098722:exon4:c.G154A:p.D52N",D,D,D,T,D,D
chr1,235929564,235929564,C,T,R010_S,LYST,Missense_Mutation,NM_000081,exon21,c.G5936A,p.G1979E,SNP,SNVindel,exonic,LYST,NA,nonsynonymous SNV,"LYST:NM_000081:exon21:c.G5936A:p.G1979E,LYST:NM_001301365:exon21:c.G5936A:p.G1979E",T,N,D,T,N,T
chr1,236719491,236719491,G,A,R010_S,HEATR1,Missense_Mutation,NM_018072,exon38,c.C5423T,p.S1808F,SNP,SNVindel,exonic,HEATR1,NA,nonsynonymous SNV,HEATR1:NM_018072:exon38:c.C5423T:p.S1808F,D,N,D,T,D,T
chr1,236759194,236759194,C,T,R010_S,HEATR1,Missense_Mutation,NM_018072,exon7,c.G895A,p.D299N,SNP,SNVindel,exonic,HEATR1,NA,nonsynonymous SNV,HEATR1:NM_018072:exon7:c.G895A:p.D299N,D,D,D,T,N,T
chr1,236767343,236767343,G,A,R010_S,HEATR1,Missense_Mutation,NM_018072,exon2,c.C53T,p.A18V,SNP,SNVindel,exonic,HEATR1,NA,nonsynonymous SNV,HEATR1:NM_018072:exon2:c.C53T:p.A18V,T,N,N,T,N,T
chr1,237016264,237016264,G,A,R010_S,MTR,Missense_Mutation,NM_001291940,exon17,c.G608A,p.G203E,SNP,SNVindel,exonic,MTR,NA,nonsynonymous SNV,"MTR:NM_001291940:exon17:c.G608A:p.G203E,MTR:NM_000254:exon18:c.G1829A:p.G610E,MTR:NM_001291939:exon18:c.G1829A:p.G610E",D,D,D,D,D,D
chr1,241146393,241146393,G,A,R010_S,RGS7,Missense_Mutation,NM_001282773,exon4,c.C212T,p.T71I,SNP,SNVindel,exonic,RGS7,NA,nonsynonymous SNV,"RGS7:NM_001282773:exon4:c.C212T:p.T71I,RGS7:NM_001282775:exon4:c.C212T:p.T71I,RGS7:NM_001282778:exon4:c.C212T:p.T71I,RGS7:NM_001350116:exon4:c.C134T:p.T45I,RGS7:NM_001364886:exon4:c.C212T:p.T71I,RGS7:NM_002924:exon4:c.C212T:p.T71I,RGS7:NM_001350113:exon5:c.C134T:p.T45I,RGS7:NM_001350114:exon5:c.C134T:p.T45I,RGS7:NM_001350115:exon5:c.C134T:p.T45I",T,N,D,T,N,T
chr1,241665787,241665787,C,T,R010_S,FH,Missense_Mutation,NM_000143,exon8,c.G1192A,p.G398S,SNP,SNVindel,exonic,FH,NA,nonsynonymous SNV,FH:NM_000143:exon8:c.G1192A:p.G398S,D,D,D,D,D,D
chr1,245027246,245027246,C,T,R010_S,HNRNPU,Missense_Mutation,NM_004501,exon1,c.G364A,p.E122K,SNP,SNVindel,exonic,HNRNPU,NA,nonsynonymous SNV,"HNRNPU:NM_004501:exon1:c.G364A:p.E122K,HNRNPU:NM_031844:exon1:c.G364A:p.E122K",T,U,D,T,N,T
chr1,248223987,248223987,G,A,R010_S,OR2L3,Missense_Mutation,NM_001004687,exon1,c.G4A,p.E2K,SNP,SNVindel,exonic,OR2L3,NA,nonsynonymous SNV,OR2L3:NM_001004687:exon1:c.G4A:p.E2K,T,.,N,T,N,T
chr1,248551545,248551545,G,A,R010_S,OR2T6,Silent,NM_001005471,exon1,c.G636A,p.S212S,SNP,SNVindel,exonic,OR2T6,NA,synonymous SNV,OR2T6:NM_001005471:exon1:c.G636A:p.S212S,NA,NA,NA,NA,NA,NA
chr1,248551736,248551736,C,T,R010_S,OR2T6,Missense_Mutation,NM_001005471,exon1,c.C827T,p.A276V,SNP,SNVindel,exonic,OR2T6,NA,nonsynonymous SNV,OR2T6:NM_001005471:exon1:c.C827T:p.A276V,T,N,N,T,N,T
chr1,248903089,248903089,C,T,R010_S,LYPD8,Silent,NM_001085474,exon1,c.G63A,p.Q21Q,SNP,SNVindel,exonic,LYPD8,NA,synonymous SNV,"LYPD8:NM_001085474:exon1:c.G63A:p.Q21Q,LYPD8:NM_001291283:exon1:c.G63A:p.Q21Q",NA,NA,NA,NA,NA,NA
chr1,249144453,249144453,G,A,R010_S,ZNF692,Missense_Mutation,NM_001193328,exon11,c.C1381T,p.P461S,SNP,SNVindel,exonic,ZNF692,NA,nonsynonymous SNV,"ZNF692:NM_001193328:exon11:c.C1381T:p.P461S,ZNF692:NM_001136036:exon12:c.C1531T:p.P511S,ZNF692:NM_001350072:exon12:c.C1513T:p.P505S,ZNF692:NM_001350073:exon12:c.C904T:p.P302S,ZNF692:NM_017865:exon12:c.C1516T:p.P506S",T,N,N,T,N,T
chr2,1915877,1915877,C,T,R010_S,MYT1L,Missense_Mutation,NM_001303052,exon12,c.G1624A,p.A542T,SNP,SNVindel,exonic,MYT1L,NA,nonsynonymous SNV,"MYT1L:NM_001303052:exon12:c.G1624A:p.A542T,MYT1L:NM_001329845:exon12:c.G1624A:p.A542T,MYT1L:NM_001329846:exon12:c.G1618A:p.A540T,MYT1L:NM_001329847:exon12:c.G1618A:p.A540T,MYT1L:NM_001329848:exon12:c.G1618A:p.A540T,MYT1L:NM_001329849:exon12:c.G1618A:p.A540T,MYT1L:NM_001329851:exon12:c.G1624A:p.A542T,MYT1L:NM_001329852:exon12:c.G1618A:p.A540T,MYT1L:NM_015025:exon12:c.G1618A:p.A540T,MYT1L:NM_001329844:exon13:c.G1624A:p.A542T",D,D,D,T,D,T
chr2,3673644,3673644,G,A,R010_S,COLEC11,Missense_Mutation,NM_199235,exon4,c.G155A,p.R52K,SNP,SNVindel,exonic,COLEC11,NA,nonsynonymous SNV,COLEC11:NM_199235:exon4:c.G155A:p.R52K,D,.,N,T,N,T
chr2,5832952,5832952,C,T,R010_S,SOX11,Silent,NM_003108,exon1,c.C99T,p.A33A,SNP,SNVindel,exonic,SOX11,NA,synonymous SNV,SOX11:NM_003108:exon1:c.C99T:p.A33A,NA,NA,NA,NA,NA,NA
chr2,5833376,5833376,G,A,R010_S,SOX11,Missense_Mutation,NM_003108,exon1,c.G523A,p.A175T,SNP,SNVindel,exonic,SOX11,NA,nonsynonymous SNV,SOX11:NM_003108:exon1:c.G523A:p.A175T,T,U,N,D,N,D
chr2,10140807,10140807,C,T,R010_S,GRHL1,Missense_Mutation,NM_198182,exon16,c.C1829T,p.S610F,SNP,SNVindel,exonic,GRHL1,NA,nonsynonymous SNV,GRHL1:NM_198182:exon16:c.C1829T:p.S610F,D,D,N,T,D,T
chr2,12858666,12858666,C,T,R010_S,TRIB2,Missense_Mutation,NM_021643,exon1,c.C233T,p.A78V,SNP,SNVindel,exonic,TRIB2,NA,nonsynonymous SNV,TRIB2:NM_021643:exon1:c.C233T:p.A78V,D,D,D,T,D,D
chr2,15737556,15737556,G,A,R010_S,DDX1,Missense_Mutation,NM_004939,exon5,c.G220A,p.G74S,SNP,SNVindel,exonic,DDX1,NA,nonsynonymous SNV,DDX1:NM_004939:exon5:c.G220A:p.G74S,T,D,D,T,D,T
chr2,18736585,18736585,C,T,R010_S,NT5C1B-RDH14,Missense_Mutation,NM_020905,exon2,c.G883A,p.V295I,SNP,SNVindel,exonic,NT5C1B-RDH14;RDH14,NA,nonsynonymous SNV,"RDH14:NM_020905:exon2:c.G883A:p.V295I,NT5C1B-RDH14:NM_001199103:exon9:c.G1825A:p.V609I",T,.,D,T,N,T
chr2,20200307,20200307,C,T,R010_S,MATN3,Missense_Mutation,NM_002381,exon5,c.G1063A,p.G355S,SNP,SNVindel,exonic,MATN3,NA,nonsynonymous SNV,MATN3:NM_002381:exon5:c.G1063A:p.G355S,T,D,D,D,D,D
chr2,20527081,20527081,C,T,R010_S,PUM2,Missense_Mutation,NM_001282790,exon1,c.G41A,p.G14E,SNP,SNVindel,exonic,PUM2,NA,nonsynonymous SNV,"PUM2:NM_001282790:exon1:c.G41A:p.G14E,PUM2:NM_001352917:exon2:c.G41A:p.G14E,PUM2:NM_001352918:exon2:c.G41A:p.G14E,PUM2:NM_001352919:exon2:c.G41A:p.G14E,PUM2:NM_001352920:exon2:c.G41A:p.G14E,PUM2:NM_001352923:exon2:c.G41A:p.G14E,PUM2:NM_001352925:exon2:c.G41A:p.G14E,PUM2:NM_001352926:exon2:c.G41A:p.G14E,PUM2:NM_001352927:exon2:c.G41A:p.G14E,PUM2:NM_001352928:exon2:c.G41A:p.G14E,PUM2:NM_015317:exon2:c.G41A:p.G14E",D,D,D,T,N,T
chr2,20647388,20647388,G,A,R010_S,RHOB,Silent,NM_004040,exon1,c.G162A,p.E54E,SNP,SNVindel,exonic,RHOB,NA,synonymous SNV,RHOB:NM_004040:exon1:c.G162A:p.E54E,NA,NA,NA,NA,NA,NA
chr2,21235013,21235013,C,T,R010_S,APOB,Missense_Mutation,NM_000384,exon26,c.G4727A,p.G1576E,SNP,SNVindel,exonic,APOB,NA,nonsynonymous SNV,APOB:NM_000384:exon26:c.G4727A:p.G1576E,D,D,N,T,D,T
chr2,23865353,23865353,C,T,R010_S,KLHL29,Silent,NM_052920,exon5,c.C573T,p.P191P,SNP,SNVindel,exonic,KLHL29,NA,synonymous SNV,KLHL29:NM_052920:exon5:c.C573T:p.P191P,NA,NA,NA,NA,NA,NA
chr2,24253898,24253898,G,A,R010_S,WDCP,Missense_Mutation,NM_025203,exon4,c.C2071T,p.P691S,SNP,SNVindel,exonic,WDCP,NA,nonsynonymous SNV,WDCP:NM_025203:exon4:c.C2071T:p.P691S,T,N,N,T,N,T
chr2,25050462,25050462,G,A,R010_S,ADCY3,Silent,NM_001320613,exon15,c.C2448T,p.A816A,SNP,SNVindel,exonic,ADCY3,NA,synonymous SNV,"ADCY3:NM_001320613:exon15:c.C2448T:p.A816A,ADCY3:NM_004036:exon15:c.C2448T:p.A816A",NA,NA,NA,NA,NA,NA
chr2,25358485,25358485,C,T,R010_S,EFR3B,Silent,NM_001319099,exon13,c.C1356T,p.N452N,SNP,SNVindel,exonic,EFR3B,NA,synonymous SNV,"EFR3B:NM_001319099:exon13:c.C1356T:p.N452N,EFR3B:NM_014971:exon13:c.C1461T:p.N487N",NA,NA,NA,NA,NA,NA
chr2,26457122,26457122,G,A,R010_S,HADHA,Missense_Mutation,NM_000182,exon5,c.C416T,p.A139V,SNP,SNVindel,exonic,HADHA,NA,nonsynonymous SNV,HADHA:NM_000182:exon5:c.C416T:p.A139V,D,D,D,D,D,D
chr2,26540952,26540952,C,T,R010_S,ADGRF3,Missense_Mutation,NM_001145168,exon2,c.G218A,p.S73N,SNP,SNVindel,exonic,ADGRF3,NA,nonsynonymous SNV,ADGRF3:NM_001145168:exon2:c.G218A:p.S73N,D,.,N,T,N,T
chr2,26653710,26653710,G,A,R010_S,DRC1,Silent,NM_145038,exon6,c.G735A,p.E245E,SNP,SNVindel,exonic,DRC1,NA,synonymous SNV,DRC1:NM_145038:exon6:c.G735A:p.E245E,NA,NA,NA,NA,NA,NA
chr2,26852343,26852343,G,A,R010_S,CIB4,Missense_Mutation,NM_001029881,exon3,c.C121T,p.P41S,SNP,SNVindel,exonic,CIB4,NA,nonsynonymous SNV,CIB4:NM_001029881:exon3:c.C121T:p.P41S,T,N,N,T,N,T
chr2,27147856,27147856,C,T,R010_S,DPYSL5,Silent,NM_001253723,exon3,c.C363T,p.D121D,SNP,SNVindel,exonic,DPYSL5,NA,synonymous SNV,"DPYSL5:NM_001253723:exon3:c.C363T:p.D121D,DPYSL5:NM_001253724:exon3:c.C363T:p.D121D,DPYSL5:NM_020134:exon3:c.C363T:p.D121D",NA,NA,NA,NA,NA,NA
chr2,27305427,27305427,C,T,R010_S,EMILIN1,Silent,NM_007046,exon4,c.C988T,p.L330L,SNP,SNVindel,exonic,EMILIN1,NA,synonymous SNV,EMILIN1:NM_007046:exon4:c.C988T:p.L330L,NA,NA,NA,NA,NA,NA
chr2,27357196,27357196,C,T,R010_S,PREB,Missense_Mutation,NM_001330485,exon1,c.G94A,p.G32S,SNP,SNVindel,exonic,PREB,NA,nonsynonymous SNV,"PREB:NM_001330485:exon1:c.G94A:p.G32S,PREB:NM_001330486:exon1:c.G94A:p.G32S,PREB:NM_001330487:exon1:c.G94A:p.G32S,PREB:NM_013388:exon1:c.G94A:p.G32S",D,D,D,T,D,D
chr2,27423415,27423415,C,T,R010_S,SLC5A6,Silent,NM_021095,exon17,c.G1797A,p.K599K,SNP,SNVindel,exonic,SLC5A6,NA,synonymous SNV,SLC5A6:NM_021095:exon17:c.G1797A:p.K599K,NA,NA,NA,NA,NA,NA
chr2,27480190,27480190,G,A,R010_S,SLC30A3,Silent,NM_001318951,exon5,c.C570T,p.P190P,SNP,SNVindel,exonic,SLC30A3,NA,synonymous SNV,"SLC30A3:NM_001318951:exon5:c.C570T:p.P190P,SLC30A3:NM_003459:exon5:c.C609T:p.P203P,SLC30A3:NM_001318949:exon6:c.C594T:p.P198P,SLC30A3:NM_001318950:exon6:c.C570T:p.P190P",NA,NA,NA,NA,NA,NA
chr2,27564970,27564970,G,A,R010_S,GTF3C2,Missense_Mutation,NM_001035521,exon4,c.C700T,p.P234S,SNP,SNVindel,exonic,GTF3C2,NA,nonsynonymous SNV,"GTF3C2:NM_001035521:exon4:c.C700T:p.P234S,GTF3C2:NM_001318909:exon4:c.C733T:p.P245S,GTF3C2:NM_001521:exon5:c.C700T:p.P234S",T,N,N,T,N,T
chr2,27601520,27601520,G,A,R010_S,ZNF513,Missense_Mutation,NM_001201459,exon2,c.C427T,p.P143S,SNP,SNVindel,exonic,ZNF513,NA,nonsynonymous SNV,"ZNF513:NM_001201459:exon2:c.C427T:p.P143S,ZNF513:NM_144631:exon3:c.C613T:p.P205S",D,D,D,T,D,T
chr2,27664612,27664612,C,T,R010_S,NRBP1,Missense_Mutation,NM_001321363,exon17,c.C1445T,p.T482I,SNP,SNVindel,exonic,NRBP1,NA,nonsynonymous SNV,"NRBP1:NM_001321363:exon17:c.C1445T:p.T482I,NRBP1:NM_001321362:exon18:c.C1538T:p.T513I,NRBP1:NM_013392:exon18:c.C1541T:p.T514I,NRBP1:NM_001321357:exon19:c.C1541T:p.T514I,NRBP1:NM_001321358:exon19:c.C1565T:p.T522I,NRBP1:NM_001321359:exon19:c.C1565T:p.T522I,NRBP1:NM_001321361:exon19:c.C1562T:p.T521I",T,D,D,T,N,T
chr2,27804169,27804169,C,T,R010_S,C2orf16,Missense_Mutation,NM_032266,exon1,c.C4730T,p.S1577F,SNP,SNVindel,exonic,C2orf16,NA,nonsynonymous SNV,C2orf16:NM_032266:exon1:c.C4730T:p.S1577F,T,.,N,T,N,T
chr2,31154962,31154962,G,A,R010_S,GALNT14,Missense_Mutation,NM_001329097,exon10,c.C1030T,p.P344S,SNP,SNVindel,exonic,GALNT14,NA,nonsynonymous SNV,"GALNT14:NM_001329097:exon10:c.C1030T:p.P344S,GALNT14:NM_024572:exon10:c.C1030T:p.P344S,GALNT14:NM_001253826:exon11:c.C1045T:p.P349S,GALNT14:NM_001329095:exon11:c.C925T:p.P309S,GALNT14:NM_001253827:exon12:c.C970T:p.P324S,GALNT14:NM_001329096:exon12:c.C970T:p.P324S",D,D,D,T,D,D
chr2,31620534,31620534,C,T,R010_S,XDH,Silent,NM_000379,exon6,c.G495A,p.R165R,SNP,SNVindel,exonic,XDH,NA,synonymous SNV,XDH:NM_000379:exon6:c.G495A:p.R165R,NA,NA,NA,NA,NA,NA
chr2,32475204,32475204,C,T,R010_S,NLRC4,Missense_Mutation,NM_001199138,exon4,c.G1729A,p.A577T,SNP,SNVindel,exonic,NLRC4,NA,nonsynonymous SNV,"NLRC4:NM_001199138:exon4:c.G1729A:p.A577T,NLRC4:NM_001199139:exon4:c.G1729A:p.A577T,NLRC4:NM_021209:exon4:c.G1729A:p.A577T",T,N,.,T,N,T
chr2,32515627,32515627,C,T,R010_S,YIPF4,Missense_Mutation,NM_032312,exon2,c.C155T,p.T52I,SNP,SNVindel,exonic,YIPF4,NA,nonsynonymous SNV,YIPF4:NM_032312:exon2:c.C155T:p.T52I,T,D,D,T,N,T
chr2,32693112,32693112,G,A,R010_S,BIRC6,Missense_Mutation,NM_016252,exon28,c.G5713A,p.A1905T,SNP,SNVindel,exonic,BIRC6,NA,nonsynonymous SNV,BIRC6:NM_016252:exon28:c.G5713A:p.A1905T,T,N,D,T,N,T
chr2,33003016,33003016,C,T,R010_S,TTC27,Missense_Mutation,NM_001193509,exon14,c.C1598T,p.A533V,SNP,SNVindel,exonic,TTC27,NA,nonsynonymous SNV,"TTC27:NM_001193509:exon14:c.C1598T:p.A533V,TTC27:NM_017735:exon14:c.C1748T:p.A583V",D,D,D,T,D,T
chr2,33585787,33585787,C,T,R010_S,LTBP1,Missense_Mutation,NM_001166264,exon22,c.C3020T,p.T1007I,SNP,SNVindel,exonic,LTBP1,NA,nonsynonymous SNV,"LTBP1:NM_001166264:exon22:c.C3020T:p.T1007I,LTBP1:NM_001166266:exon22:c.C2861T:p.T954I,LTBP1:NM_000627:exon23:c.C3146T:p.T1049I,LTBP1:NM_001166265:exon23:c.C2987T:p.T996I,LTBP1:NM_206943:exon27:c.C4124T:p.T1375I",D,.,D,D,D,D
chr2,36808434,36808434,C,T,R010_S,FEZ2,Silent,NM_001042548,exon4,c.G633A,p.E211E,SNP,SNVindel,exonic,FEZ2,NA,synonymous SNV,"FEZ2:NM_001042548:exon4:c.G633A:p.E211E,FEZ2:NM_005102:exon4:c.G633A:p.E211E",NA,NA,NA,NA,NA,NA
chr2,39089339,39089339,G,A,R010_S,DHX57,Missense_Mutation,NM_001329963,exon4,c.C214T,p.P72S,SNP,SNVindel,exonic,DHX57,NA,nonsynonymous SNV,"DHX57:NM_001329963:exon4:c.C214T:p.P72S,DHX57:NM_198963:exon4:c.C520T:p.P174S",.,N,N,.,.,T
chr2,39162917,39162917,C,T,R010_S,ARHGEF33,Silent,NM_001145451,exon6,c.C507T,p.A169A,SNP,SNVindel,exonic,ARHGEF33,NA,synonymous SNV,"ARHGEF33:NM_001145451:exon6:c.C507T:p.A169A,ARHGEF33:NM_001367623:exon6:c.C507T:p.A169A",NA,NA,NA,NA,NA,NA
chr2,39485555,39485555,C,T,R010_S,MAP4K3,Missense_Mutation,NM_001270425,exon30,c.G2341A,p.G781R,SNP,SNVindel,exonic,MAP4K3,NA,nonsynonymous SNV,"MAP4K3:NM_001270425:exon30:c.G2341A:p.G781R,MAP4K3:NM_003618:exon31:c.G2404A:p.G802R",D,D,D,T,D,T
chr2,42836609,42836609,G,A,R010_S,MTA3,Missense_Mutation,NM_001282756,exon4,c.G34A,p.E12K,SNP,SNVindel,exonic,MTA3,NA,nonsynonymous SNV,"MTA3:NM_001282756:exon4:c.G34A:p.E12K,MTA3:NM_001330442:exon4:c.G202A:p.E68K,MTA3:NM_001330443:exon4:c.G202A:p.E68K,MTA3:NM_001330444:exon4:c.G202A:p.E68K,MTA3:NM_020744:exon4:c.G202A:p.E68K,MTA3:NM_001282755:exon5:c.G34A:p.E12K",D,D,D,T,D,T
chr2,44599963,44599963,G,A,R010_S,CAMKMT,Missense_Mutation,NM_024766,exon2,c.G247A,p.E83K,SNP,SNVindel,exonic,CAMKMT,NA,nonsynonymous SNV,CAMKMT:NM_024766:exon2:c.G247A:p.E83K,T,N,N,.,N,T
chr2,45235983,45235983,C,T,R010_S,SIX2,Silent,NM_016932,exon1,c.G267A,p.K89K,SNP,SNVindel,exonic,SIX2,NA,synonymous SNV,SIX2:NM_016932:exon1:c.G267A:p.K89K,NA,NA,NA,NA,NA,NA
chr2,45704182,45704182,C,T,R010_S,SRBD1,Missense_Mutation,NM_018079,exon16,c.G1999A,p.A667T,SNP,SNVindel,exonic,SRBD1,NA,nonsynonymous SNV,SRBD1:NM_018079:exon16:c.G1999A:p.A667T,T,D,D,T,D,T
chr2,46228618,46228618,C,T,R010_S,PRKCE,Missense_Mutation,NM_005400,exon7,c.C899T,p.A300V,SNP,SNVindel,exonic,PRKCE,NA,nonsynonymous SNV,PRKCE:NM_005400:exon7:c.C899T:p.A300V,D,D,D,T,D,T
chr2,46525060,46525060,G,A,R010_S,EPAS1,Missense_Mutation,NM_001430,exon1,c.G10A,p.D4N,SNP,SNVindel,exonic,EPAS1,NA,nonsynonymous SNV,EPAS1:NM_001430:exon1:c.G10A:p.D4N,T,N,N,T,N,T
chr2,47220602,47220602,G,A,R010_S,TTC7A,Missense_Mutation,NM_001288951,exon6,c.G778A,p.G260S,SNP,SNVindel,exonic,TTC7A,NA,nonsynonymous SNV,"TTC7A:NM_001288951:exon6:c.G778A:p.G260S,TTC7A:NM_020458:exon6:c.G778A:p.G260S,TTC7A:NM_001288953:exon7:c.G676A:p.G226S",D,D,D,T,D,T
chr2,48026411,48026411,G,A,R010_S,MSH6,Missense_Mutation,NM_001281492,exon2,c.G899A,p.G300E,SNP,SNVindel,exonic,MSH6,NA,nonsynonymous SNV,"MSH6:NM_001281492:exon2:c.G899A:p.G300E,MSH6:NM_001281493:exon3:c.G383A:p.G128E,MSH6:NM_000179:exon4:c.G1289A:p.G430E,MSH6:NM_001281494:exon4:c.G383A:p.G128E",D,D,D,D,D,D
chr2,48028263,48028263,G,A,R010_S,MSH6,Nonsense_Mutation,NM_001281492,exon2,c.G2751A,p.W917X,SNP,SNVindel,exonic,MSH6,NA,stopgain,"MSH6:NM_001281492:exon2:c.G2751A:p.W917X,MSH6:NM_001281493:exon3:c.G2235A:p.W745X,MSH6:NM_000179:exon4:c.G3141A:p.W1047X,MSH6:NM_001281494:exon4:c.G2235A:p.W745X",.,D,D,.,.,.
chr2,48678207,48678207,G,A,R010_S,PPP1R21,Missense_Mutation,NM_001135629,exon2,c.G118A,p.A40T,SNP,SNVindel,exonic,PPP1R21,NA,nonsynonymous SNV,"PPP1R21:NM_001135629:exon2:c.G118A:p.A40T,PPP1R21:NM_001193475:exon2:c.G118A:p.A40T,PPP1R21:NM_152994:exon2:c.G118A:p.A40T",D,D,D,.,N,T
chr2,54197738,54197738,C,T,R010_S,PSME4,Missense_Mutation,NM_014614,exon1,c.G184A,p.A62T,SNP,SNVindel,exonic,PSME4,NA,nonsynonymous SNV,PSME4:NM_014614:exon1:c.G184A:p.A62T,D,U,D,T,D,T
chr2,54753624,54753624,C,T,R010_S,SPTBN1,Silent,NM_003128,exon2,c.C69T,p.N23N,SNP,SNVindel,exonic,SPTBN1,NA,synonymous SNV,SPTBN1:NM_003128:exon2:c.C69T:p.N23N,NA,NA,NA,NA,NA,NA
chr2,54856222,54856222,G,A,R010_S,SPTBN1,Missense_Mutation,NM_178313,exon13,c.G1912A,p.E638K,SNP,SNVindel,exonic,SPTBN1,NA,nonsynonymous SNV,"SPTBN1:NM_178313:exon13:c.G1912A:p.E638K,SPTBN1:NM_003128:exon14:c.G1951A:p.E651K",T,D,D,T,D,T
chr2,54858508,54858508,G,A,R010_S,SPTBN1,Silent,NM_178313,exon15,c.G3285A,p.K1095K,SNP,SNVindel,exonic,SPTBN1,NA,synonymous SNV,"SPTBN1:NM_178313:exon15:c.G3285A:p.K1095K,SPTBN1:NM_003128:exon16:c.G3324A:p.K1108K",NA,NA,NA,NA,NA,NA
chr2,54895529,54895529,C,T,R010_S,SPTBN1,Silent,NM_003128,exon36,c.C6918T,p.I2306I,SNP,SNVindel,exonic,SPTBN1,NA,synonymous SNV,SPTBN1:NM_003128:exon36:c.C6918T:p.I2306I,NA,NA,NA,NA,NA,NA
chr2,55476565,55476565,C,T,R010_S,MTIF2,Missense_Mutation,NM_001321004,exon8,c.G947A,p.G316D,SNP,SNVindel,exonic,MTIF2,NA,nonsynonymous SNV,"MTIF2:NM_001321004:exon8:c.G947A:p.G316D,MTIF2:NM_001321005:exon8:c.G218A:p.G73D,MTIF2:NM_001321001:exon9:c.G947A:p.G316D,MTIF2:NM_001321002:exon9:c.G947A:p.G316D,MTIF2:NM_002453:exon9:c.G947A:p.G316D,MTIF2:NM_001005369:exon10:c.G947A:p.G316D,MTIF2:NM_001321003:exon10:c.G947A:p.G316D",D,D,D,T,D,D
chr2,55561867,55561867,G,A,R010_S,CCDC88A,Missense_Mutation,NM_001135597,exon15,c.C2090T,p.S697F,SNP,SNVindel,exonic,CCDC88A,NA,nonsynonymous SNV,"CCDC88A:NM_001135597:exon15:c.C2090T:p.S697F,CCDC88A:NM_001254943:exon15:c.C2090T:p.S697F,CCDC88A:NM_001365480:exon15:c.C2090T:p.S697F,CCDC88A:NM_018084:exon15:c.C2090T:p.S697F",D,U,D,T,D,T
chr2,55571593,55571593,G,A,R010_S,CCDC88A,Silent,NM_001135597,exon11,c.C1099T,p.L367L,SNP,SNVindel,exonic,CCDC88A,NA,synonymous SNV,"CCDC88A:NM_001135597:exon11:c.C1099T:p.L367L,CCDC88A:NM_001254943:exon11:c.C1099T:p.L367L,CCDC88A:NM_001365480:exon11:c.C1099T:p.L367L,CCDC88A:NM_018084:exon11:c.C1099T:p.L367L",NA,NA,NA,NA,NA,NA
chr2,55571602,55571602,C,T,R010_S,CCDC88A,Missense_Mutation,NM_001135597,exon11,c.G1090A,p.E364K,SNP,SNVindel,exonic,CCDC88A,NA,nonsynonymous SNV,"CCDC88A:NM_001135597:exon11:c.G1090A:p.E364K,CCDC88A:NM_001254943:exon11:c.G1090A:p.E364K,CCDC88A:NM_001365480:exon11:c.G1090A:p.E364K,CCDC88A:NM_018084:exon11:c.G1090A:p.E364K",D,U,D,T,D,T
chr2,55831132,55831132,G,A,R010_S,PPP4R3B,Silent,NM_001122964,exon3,c.C279T,p.I93I,SNP,SNVindel,exonic,PPP4R3B,NA,synonymous SNV,"PPP4R3B:NM_001122964:exon3:c.C279T:p.I93I,PPP4R3B:NM_001282850:exon3:c.C279T:p.I93I,PPP4R3B:NM_020463:exon3:c.C279T:p.I93I",NA,NA,NA,NA,NA,NA
chr2,55910938,55910938,G,A,R010_S,PNPT1,Silent,NM_033109,exon5,c.C435T,p.G145G,SNP,SNVindel,exonic,PNPT1,NA,synonymous SNV,PNPT1:NM_033109:exon5:c.C435T:p.G145G,NA,NA,NA,NA,NA,NA
chr2,61473484,61473484,G,A,R010_S,USP34,Missense_Mutation,NM_014709,exon50,c.C6523T,p.P2175S,SNP,SNVindel,exonic,USP34,NA,nonsynonymous SNV,USP34:NM_014709:exon50:c.C6523T:p.P2175S,T,D,D,T,N,T
chr2,62067066,62067066,C,T,R010_S,FAM161A,Missense_Mutation,NM_001201543,exon3,c.G1073A,p.R358K,SNP,SNVindel,exonic,FAM161A,NA,nonsynonymous SNV,"FAM161A:NM_001201543:exon3:c.G1073A:p.R358K,FAM161A:NM_032180:exon3:c.G1073A:p.R358K",T,N,N,T,N,T
chr2,63221062,63221062,G,A,R010_S,EHBP1,Missense_Mutation,NM_001142615,exon18,c.G2929A,p.A977T,SNP,SNVindel,exonic,EHBP1,NA,nonsynonymous SNV,"EHBP1:NM_001142615:exon18:c.G2929A:p.A977T,EHBP1:NM_001142616:exon18:c.G2929A:p.A977T,EHBP1:NM_001354217:exon18:c.G3034A:p.A1012T,EHBP1:NM_001354218:exon18:c.G2929A:p.A977T,EHBP1:NM_001354219:exon18:c.G2926A:p.A976T,EHBP1:NM_001354220:exon18:c.G2926A:p.A976T,EHBP1:NM_001354222:exon18:c.G2083A:p.A695T,EHBP1:NM_001142614:exon19:c.G3037A:p.A1013T,EHBP1:NM_001354212:exon20:c.G3142A:p.A1048T,EHBP1:NM_001354213:exon20:c.G3142A:p.A1048T,EHBP1:NM_001354214:exon20:c.G3142A:p.A1048T,EHBP1:NM_001354215:exon20:c.G3139A:p.A1047T,EHBP1:NM_001354216:exon20:c.G3139A:p.A1047T,EHBP1:NM_001354221:exon20:c.G2296A:p.A766T,EHBP1:NM_015252:exon20:c.G3142A:p.A1048T",T,N,N,T,N,T
chr2,63282636,63282636,G,A,R010_S,OTX1,Missense_Mutation,NM_001199770,exon5,c.G250A,p.V84I,SNP,SNVindel,exonic,OTX1,NA,nonsynonymous SNV,"OTX1:NM_001199770:exon5:c.G250A:p.V84I,OTX1:NM_014562:exon5:c.G250A:p.V84I",D,D,D,D,N,D
chr2,63282665,63282665,C,T,R010_S,OTX1,Silent,NM_001199770,exon5,c.C279T,p.C93C,SNP,SNVindel,exonic,OTX1,NA,synonymous SNV,"OTX1:NM_001199770:exon5:c.C279T:p.C93C,OTX1:NM_014562:exon5:c.C279T:p.C93C",NA,NA,NA,NA,NA,NA
chr2,64109755,64109755,C,T,R010_S,UGP2,Silent,NM_001001521,exon4,c.C378T,p.T126T,SNP,SNVindel,exonic,UGP2,NA,synonymous SNV,"UGP2:NM_001001521:exon4:c.C378T:p.T126T,UGP2:NM_006759:exon4:c.C411T:p.T137T",NA,NA,NA,NA,NA,NA
chr2,65541211,65541211,C,T,R010_S,SPRED2,Silent,NM_001128210,exon6,c.G672A,p.G224G,SNP,SNVindel,exonic,SPRED2,NA,synonymous SNV,"SPRED2:NM_001128210:exon6:c.G672A:p.G224G,SPRED2:NM_181784:exon6:c.G681A:p.G227G",NA,NA,NA,NA,NA,NA
chr2,68368862,68368862,C,T,R010_S,WDR92,Missense_Mutation,NM_001256476,exon4,c.G481A,p.G161R,SNP,SNVindel,exonic,WDR92,NA,nonsynonymous SNV,"WDR92:NM_001256476:exon4:c.G481A:p.G161R,WDR92:NM_138458:exon4:c.G481A:p.G161R",T,D,D,T,D,D
chr2,70443371,70443371,C,T,R010_S,TIA1,Missense_Mutation,NM_001351514,exon8,c.G505A,p.V169I,SNP,SNVindel,exonic,TIA1,NA,nonsynonymous SNV,"TIA1:NM_001351514:exon8:c.G505A:p.V169I,TIA1:NM_001351509:exon9:c.G706A:p.V236I,TIA1:NM_001351510:exon9:c.G700A:p.V234I,TIA1:NM_001351512:exon9:c.G595A:p.V199I,TIA1:NM_001351513:exon9:c.G589A:p.V197I,TIA1:NM_022037:exon9:c.G700A:p.V234I,TIA1:NM_001351508:exon10:c.G733A:p.V245I,TIA1:NM_001351511:exon10:c.G622A:p.V208I,TIA1:NM_001351515:exon10:c.G430A:p.V144I,TIA1:NM_001351516:exon10:c.G733A:p.V245I,TIA1:NM_001351524:exon10:c.G313A:p.V105I,TIA1:NM_001351525:exon10:c.G313A:p.V105I,TIA1:NM_022173:exon10:c.G733A:p.V245I,TIA1:NM_001351517:exon12:c.G313A:p.V105I",T,N,D,T,N,T
chr2,70504447,70504447,G,A,R010_S,PCYOX1,Missense_Mutation,NM_016297,exon6,c.G1441A,p.A481T,SNP,SNVindel,exonic,PCYOX1,NA,nonsynonymous SNV,PCYOX1:NM_016297:exon6:c.G1441A:p.A481T,D,D,D,T,D,T
chr2,71012662,71012662,C,T,R010_S,FIGLA,Missense_Mutation,NM_001004311,exon3,c.G494A,p.G165D,SNP,SNVindel,exonic,FIGLA,NA,nonsynonymous SNV,FIGLA:NM_001004311:exon3:c.G494A:p.G165D,D,N,D,D,N,D
chr2,74140677,74140677,C,T,R010_S,ACTG2,Missense_Mutation,NM_001199893,exon5,c.C388T,p.P130S,SNP,SNVindel,exonic,ACTG2,NA,nonsynonymous SNV,"ACTG2:NM_001199893:exon5:c.C388T:p.P130S,ACTG2:NM_001615:exon6:c.C517T:p.P173S",.,D,D,D,D,D
chr2,74462333,74462333,G,A,R010_S,SLC4A5,Silent,NM_021196,exon17,c.C2328T,p.A776A,SNP,SNVindel,exonic,SLC4A5,NA,synonymous SNV,"SLC4A5:NM_021196:exon17:c.C2328T:p.A776A,SLC4A5:NM_133478:exon22:c.C2328T:p.A776A",NA,NA,NA,NA,NA,NA
chr2,74708121,74708121,G,A,R010_S,CCDC142,Missense_Mutation,NM_001365575,exon4,c.C1351T,p.P451S,SNP,SNVindel,exonic,CCDC142,NA,nonsynonymous SNV,"CCDC142:NM_001365575:exon4:c.C1351T:p.P451S,CCDC142:NM_032779:exon4:c.C1330T:p.P444S",D,N,D,T,N,T
chr2,74709226,74709226,C,T,R010_S,CCDC142,Missense_Mutation,NM_001365575,exon1,c.G739A,p.V247M,SNP,SNVindel,exonic,CCDC142,NA,nonsynonymous SNV,"CCDC142:NM_001365575:exon1:c.G739A:p.V247M,CCDC142:NM_032779:exon1:c.G739A:p.V247M",T,N,N,D,N,T
chr2,74763586,74763586,G,A,R010_S,LOXL3,Silent,NM_001289164,exon4,c.C490T,p.L164L,SNP,SNVindel,exonic,LOXL3,NA,synonymous SNV,"LOXL3:NM_001289164:exon4:c.C490T:p.L164L,LOXL3:NM_032603:exon6:c.C925T:p.L309L",NA,NA,NA,NA,NA,NA
chr2,74883679,74883679,C,T,R010_S,SEMA4F,Missense_Mutation,NM_001271661,exon2,c.C164T,p.T55I,SNP,SNVindel,exonic,SEMA4F,NA,nonsynonymous SNV,"SEMA4F:NM_001271661:exon2:c.C164T:p.T55I,SEMA4F:NM_001271662:exon2:c.C164T:p.T55I,SEMA4F:NM_004263:exon2:c.C164T:p.T55I",T,N,D,T,N,T
chr2,80136786,80136786,C,T,R010_S,CTNNA2,Silent,NM_001164883,exon7,c.C919T,p.L307L,SNP,SNVindel,exonic,CTNNA2,NA,synonymous SNV,"CTNNA2:NM_001164883:exon7:c.C919T:p.L307L,CTNNA2:NM_001282597:exon7:c.C919T:p.L307L,CTNNA2:NM_001282598:exon7:c.C1021T:p.L341L,CTNNA2:NM_004389:exon7:c.C919T:p.L307L",NA,NA,NA,NA,NA,NA
chr2,84658737,84658737,G,A,R010_S,SUCLG1,Silent,NM_003849,exon7,c.C720T,p.L240L,SNP,SNVindel,exonic,SUCLG1,NA,synonymous SNV,SUCLG1:NM_003849:exon7:c.C720T:p.L240L,NA,NA,NA,NA,NA,NA
chr2,84847021,84847021,G,A,R010_S,DNAH6,Missense_Mutation,NM_001370,exon24,c.G3785A,p.G1262E,SNP,SNVindel,exonic,DNAH6,NA,nonsynonymous SNV,DNAH6:NM_001370:exon24:c.G3785A:p.G1262E,D,.,D,T,D,D
chr2,85766456,85766456,G,A,R010_S,MAT2A,Missense_Mutation,NM_005911,exon1,c.G46A,p.G16S,SNP,SNVindel,exonic,MAT2A,NA,nonsynonymous SNV,MAT2A:NM_005911:exon1:c.G46A:p.G16S,T,D,D,D,N,D
chr2,86426647,86426647,G,A,R010_S,MRPL35,Missense_Mutation,NM_001363782,exon1,c.G34A,p.A12T,SNP,SNVindel,exonic,MRPL35,NA,nonsynonymous SNV,"MRPL35:NM_001363782:exon1:c.G34A:p.A12T,MRPL35:NM_016622:exon1:c.G34A:p.A12T,MRPL35:NM_145644:exon1:c.G34A:p.A12T",T,N,N,T,N,T
chr2,86434411,86434411,G,A,R010_S,MRPL35,Silent,NM_001363782,exon3,c.G339A,p.R113R,SNP,SNVindel,exonic,MRPL35,NA,synonymous SNV,"MRPL35:NM_001363782:exon3:c.G339A:p.R113R,MRPL35:NM_016622:exon3:c.G339A:p.R113R,MRPL35:NM_145644:exon3:c.G339A:p.R113R",NA,NA,NA,NA,NA,NA
chr2,87013068,87013068,G,A,R010_S,CD8A,Missense_Mutation,NM_171827,exon5,c.C572T,p.P191L,SNP,SNVindel,exonic,CD8A,NA,nonsynonymous SNV,"CD8A:NM_171827:exon5:c.C572T:p.P191L,CD8A:NM_001768:exon6:c.C683T:p.P228L,CD8A:NM_001145873:exon9:c.C683T:p.P228L",D,N,N,T,D,T
chr2,87017770,87017770,C,T,R010_S,CD8A,Silent,NM_001768,exon2,c.G84A,p.P28P,SNP,SNVindel,exonic,CD8A,NA,synonymous SNV,"CD8A:NM_001768:exon2:c.G84A:p.P28P,CD8A:NM_171827:exon2:c.G84A:p.P28P,CD8A:NM_001145873:exon5:c.G84A:p.P28P",NA,NA,NA,NA,NA,NA
chr2,95815475,95815475,C,T,R010_S,ZNF514,Missense_Mutation,NM_001318005,exon5,c.G974A,p.R325K,SNP,SNVindel,exonic,ZNF514,NA,nonsynonymous SNV,"ZNF514:NM_001318005:exon5:c.G974A:p.R325K,ZNF514:NM_032788:exon5:c.G755A:p.R252K",T,.,N,T,D,T
chr2,96956159,96956159,G,A,R010_S,SNRNP200,Missense_Mutation,NM_014014,exon20,c.C2647T,p.L883F,SNP,SNVindel,exonic,SNRNP200,NA,nonsynonymous SNV,SNRNP200:NM_014014:exon20:c.C2647T:p.L883F,T,D,D,D,N,D
chr2,97031702,97031702,C,T,R010_S,NCAPH,Missense_Mutation,NM_001281712,exon13,c.C1379T,p.P460L,SNP,SNVindel,exonic,NCAPH,NA,nonsynonymous SNV,"NCAPH:NM_001281712:exon13:c.C1379T:p.P460L,NCAPH:NM_001281710:exon14:c.C1754T:p.P585L,NCAPH:NM_001281711:exon14:c.C1715T:p.P572L,NCAPH:NM_015341:exon14:c.C1787T:p.P596L",T,N,N,T,N,T
chr2,97285494,97285494,C,T,R010_S,KANSL3,Missense_Mutation,NM_001115016,exon4,c.G392A,p.G131D,SNP,SNVindel,exonic,KANSL3,NA,nonsynonymous SNV,"KANSL3:NM_001115016:exon4:c.G392A:p.G131D,KANSL3:NM_001349256:exon4:c.G392A:p.G131D,KANSL3:NM_001349257:exon4:c.G392A:p.G131D,KANSL3:NM_001349258:exon4:c.G392A:p.G131D,KANSL3:NM_001349259:exon4:c.G131A:p.G44D",T,N,D,T,D,T
chr2,97355019,97355019,G,A,R010_S,FER1L5,Missense_Mutation,NM_001293083,exon25,c.G2431A,p.D811N,SNP,SNVindel,exonic,FER1L5,NA,nonsynonymous SNV,FER1L5:NM_001293083:exon25:c.G2431A:p.D811N,.,.,.,.,.,T
chr2,97519151,97519151,G,A,R010_S,ANKRD39,Missense_Mutation,NM_016466,exon3,c.C395T,p.T132I,SNP,SNVindel,exonic,ANKRD39,NA,nonsynonymous SNV,ANKRD39:NM_016466:exon3:c.C395T:p.T132I,D,U,D,T,D,D
chr2,98351057,98351057,C,T,R010_S,ZAP70,Missense_Mutation,NM_207519,exon1,c.C43T,p.P15S,SNP,SNVindel,exonic,ZAP70,NA,nonsynonymous SNV,"ZAP70:NM_207519:exon1:c.C43T:p.P15S,ZAP70:NM_001079:exon9:c.C964T:p.P322S",D,D,D,T,D,D
chr2,98779406,98779406,C,T,R010_S,VWA3B,Missense_Mutation,NM_001345864,exon2,c.C52T,p.P18S,SNP,SNVindel,exonic,VWA3B,NA,nonsynonymous SNV,"VWA3B:NM_001345864:exon2:c.C52T:p.P18S,VWA3B:NM_144992:exon8:c.C1081T:p.P361S",T,N,N,T,N,T
chr2,99013271,99013271,C,T,R010_S,CNGA3,Silent,NM_001079878,exon7,c.C1584T,p.Y528Y,SNP,SNVindel,exonic,CNGA3,NA,synonymous SNV,"CNGA3:NM_001079878:exon7:c.C1584T:p.Y528Y,CNGA3:NM_001298:exon8:c.C1638T:p.Y546Y",NA,NA,NA,NA,NA,NA
chr2,99977665,99977665,C,T,R010_S,EIF5B,Nonsense_Mutation,NM_015904,exon4,c.C301T,p.Q101X,SNP,SNVindel,exonic,EIF5B,NA,stopgain,EIF5B:NM_015904:exon4:c.C301T:p.Q101X,.,.,A,.,.,.
chr2,100343584,100343584,C,T,R010_S,AFF3,Missense_Mutation,NM_001025108,exon10,c.G1121A,p.G374D,SNP,SNVindel,exonic,AFF3,NA,nonsynonymous SNV,"AFF3:NM_001025108:exon10:c.G1121A:p.G374D,AFF3:NM_002285:exon10:c.G1046A:p.G349D",T,N,D,T,N,T
chr2,101098739,101098739,C,T,R010_S,NMS,Missense_Mutation,NM_001011717,exon9,c.C415T,p.P139S,SNP,SNVindel,exonic,NMS,NA,nonsynonymous SNV,NMS:NM_001011717:exon9:c.C415T:p.P139S,D,N,D,T,D,T
chr2,101646070,101646070,C,T,R010_S,TBC1D8,Missense_Mutation,NM_001102426,exon12,c.G2060A,p.C687Y,SNP,SNVindel,exonic,TBC1D8,NA,nonsynonymous SNV,"TBC1D8:NM_001102426:exon12:c.G2060A:p.C687Y,TBC1D8:NM_001330348:exon12:c.G2105A:p.C702Y",D,D,D,T,D,T
chr2,102992379,102992379,C,T,R010_S,IL18R1,Silent,NM_001282399,exon5,c.C16T,p.L6L,SNP,SNVindel,exonic,IL18R1,NA,synonymous SNV,"IL18R1:NM_001282399:exon5:c.C16T:p.L6L,IL18R1:NM_001371418:exon5:c.C481T:p.L161L,IL18R1:NM_001371419:exon5:c.C481T:p.L161L,IL18R1:NM_001371420:exon5:c.C481T:p.L161L,IL18R1:NM_003855:exon5:c.C481T:p.L161L,IL18R1:NM_001371421:exon7:c.C16T:p.L6L",NA,NA,NA,NA,NA,NA
chr2,103011036,103011036,C,T,R010_S,IL18R1,Missense_Mutation,NM_001371424,exon8,c.C469T,p.H157Y,SNP,SNVindel,exonic,IL18R1,NA,nonsynonymous SNV,"IL18R1:NM_001371424:exon8:c.C469T:p.H157Y,IL18R1:NM_001371422:exon9:c.C472T:p.H158Y,IL18R1:NM_001371423:exon9:c.C469T:p.H157Y,IL18R1:NM_001282399:exon10:c.C751T:p.H251Y,IL18R1:NM_001371418:exon10:c.C1216T:p.H406Y,IL18R1:NM_003855:exon10:c.C1219T:p.H407Y,IL18R1:NM_001371421:exon12:c.C754T:p.H252Y",D,D,N,T,D,T
chr2,103274380,103274380,C,T,R010_S,SLC9A2,Missense_Mutation,NM_003048,exon2,c.C647T,p.A216V,SNP,SNVindel,exonic,SLC9A2,NA,nonsynonymous SNV,SLC9A2:NM_003048:exon2:c.C647T:p.A216V,D,D,D,T,D,T
chr2,110053497,110053497,C,T,R010_S,SH3RF3,Missense_Mutation,NM_001099289,exon7,c.C1723T,p.P575S,SNP,SNVindel,exonic,SH3RF3,NA,nonsynonymous SNV,SH3RF3:NM_001099289:exon7:c.C1723T:p.P575S,T,N,N,T,D,T
chr2,110332180,110332180,G,A,R010_S,SEPTIN10,Missense_Mutation,NM_001321496,exon3,c.C179T,p.T60I,SNP,SNVindel,exonic,SEPTIN10,NA,nonsynonymous SNV,"SEPTIN10:NM_001321496:exon3:c.C179T:p.T60I,SEPTIN10:NM_001321507:exon3:c.C179T:p.T60I,SEPTIN10:NM_001321500:exon4:c.C509T:p.T170I,SEPTIN10:NM_001321502:exon4:c.C509T:p.T170I,SEPTIN10:NM_001321515:exon4:c.C482T:p.T161I,SEPTIN10:NM_178584:exon4:c.C509T:p.T170I,SEPTIN10:NM_001321498:exon5:c.C578T:p.T193I,SEPTIN10:NM_001321501:exon5:c.C452T:p.T151I,SEPTIN10:NM_001321509:exon5:c.C452T:p.T151I,SEPTIN10:NM_001321512:exon5:c.C578T:p.T193I,SEPTIN10:NM_001321513:exon5:c.C551T:p.T184I,SEPTIN10:NM_001321514:exon5:c.C533T:p.T178I,SEPTIN10:NM_144710:exon5:c.C578T:p.T193I",D,D,D,T,D,T
chr2,112702537,112702537,C,T,R010_S,MERTK,Silent,NM_006343,exon3,c.C483T,p.S161S,SNP,SNVindel,exonic,MERTK,NA,synonymous SNV,MERTK:NM_006343:exon3:c.C483T:p.S161S,NA,NA,NA,NA,NA,NA
chr2,113081988,113081988,G,A,R010_S,ZC3H6,Missense_Mutation,NM_198581,exon10,c.G1600A,p.V534M,SNP,SNVindel,exonic,ZC3H6,NA,nonsynonymous SNV,ZC3H6:NM_198581:exon10:c.G1600A:p.V534M,T,N,N,T,N,T
chr2,113082602,113082602,C,T,R010_S,ZC3H6,Silent,NM_198581,exon11,c.C1914T,p.N638N,SNP,SNVindel,exonic,ZC3H6,NA,synonymous SNV,ZC3H6:NM_198581:exon11:c.C1914T:p.N638N,NA,NA,NA,NA,NA,NA
chr2,113417334,113417334,C,T,R010_S,SLC20A1,Silent,NM_005415,exon8,c.C1602T,p.D534D,SNP,SNVindel,exonic,SLC20A1,NA,synonymous SNV,SLC20A1:NM_005415:exon8:c.C1602T:p.D534D,NA,NA,NA,NA,NA,NA
chr2,113940786,113940786,C,T,R010_S,PSD4,Silent,NM_012455,exon2,c.C753T,p.F251F,SNP,SNVindel,exonic,PSD4,NA,synonymous SNV,PSD4:NM_012455:exon2:c.C753T:p.F251F,NA,NA,NA,NA,NA,NA
chr2,114684982,114684982,G,A,R010_S,ACTR3,Missense_Mutation,NM_001277140,exon4,c.G133A,p.V45M,SNP,SNVindel,exonic,ACTR3,NA,nonsynonymous SNV,"ACTR3:NM_001277140:exon4:c.G133A:p.V45M,ACTR3:NM_005721:exon4:c.G286A:p.V96M",T,D,D,D,N,D
chr2,120980000,120980000,C,T,R010_S,TMEM185B,Missense_Mutation,NM_024121,exon1,c.G553A,p.V185I,SNP,SNVindel,exonic,TMEM185B,NA,nonsynonymous SNV,TMEM185B:NM_024121:exon1:c.G553A:p.V185I,T,.,D,T,N,.
chr2,125262053,125262053,C,T,R010_S,CNTNAP5,Missense_Mutation,NM_001367498,exon8,c.C1247T,p.T416I,SNP,SNVindel,exonic,CNTNAP5,NA,nonsynonymous SNV,"CNTNAP5:NM_001367498:exon8:c.C1247T:p.T416I,CNTNAP5:NM_130773:exon8:c.C1244T:p.T415I",T,N,N,T,N,T
chr2,128477392,128477392,C,T,R010_S,WDR33,Missense_Mutation,NM_018383,exon16,c.G2207A,p.G736D,SNP,SNVindel,exonic,WDR33,NA,nonsynonymous SNV,WDR33:NM_018383:exon16:c.G2207A:p.G736D,D,D,D,D,N,D
chr2,128703066,128703066,C,T,R010_S,SAP130,Nonsense_Mutation,NM_001330300,exon18,c.G2757A,p.W919X,SNP,SNVindel,exonic,SAP130,NA,stopgain,"SAP130:NM_001330300:exon18:c.G2757A:p.W919X,SAP130:NM_001330303:exon18:c.G2760A:p.W920X,SAP130:NM_024545:exon18:c.G2838A:p.W946X,SAP130:NM_001145928:exon19:c.G2943A:p.W981X,SAP130:NM_001330299:exon19:c.G2862A:p.W954X,SAP130:NM_001330301:exon19:c.G2865A:p.W955X,SAP130:NM_001330302:exon19:c.G2862A:p.W954X",.,D,A,.,.,.
chr2,131130778,131130778,C,T,R010_S,PTPN18,Missense_Mutation,NM_001142370,exon11,c.C1043T,p.A348V,SNP,SNVindel,exonic,PTPN18,NA,nonsynonymous SNV,"PTPN18:NM_001142370:exon11:c.C1043T:p.A348V,PTPN18:NM_014369:exon15:c.C1364T:p.A455V",T,N,D,T,N,T
chr2,131521784,131521784,C,T,R010_S,AMER3,Silent,NM_001105193,exon2,c.C2139T,p.G713G,SNP,SNVindel,exonic,AMER3,NA,synonymous SNV,"AMER3:NM_001105193:exon2:c.C2139T:p.G713G,AMER3:NM_001105194:exon2:c.C2139T:p.G713G,AMER3:NM_001105195:exon2:c.C2139T:p.G713G,AMER3:NM_152698:exon2:c.C2139T:p.G713G",NA,NA,NA,NA,NA,NA
chr2,132120983,132120983,G,A,R010_S,RAB6D,Missense_Mutation,NM_001077637,exon1,c.C311T,p.T104I,SNP,SNVindel,exonic,RAB6D,NA,nonsynonymous SNV,RAB6D:NM_001077637:exon1:c.C311T:p.T104I,NA,NA,NA,NA,NA,NA
chr2,133543163,133543163,C,T,R010_S,NCKAP5,Silent,NM_207363,exon14,c.G1221A,p.K407K,SNP,SNVindel,exonic,NCKAP5,NA,synonymous SNV,NCKAP5:NM_207363:exon14:c.G1221A:p.K407K,NA,NA,NA,NA,NA,NA
chr2,136872763,136872763,G,A,R010_S,CXCR4,Silent,NM_001008540,exon1,c.C747T,p.I249I,SNP,SNVindel,exonic,CXCR4,NA,synonymous SNV,"CXCR4:NM_001008540:exon1:c.C747T:p.I249I,CXCR4:NM_001348060:exon2:c.C690T:p.I230I,CXCR4:NM_003467:exon2:c.C735T:p.I245I,CXCR4:NM_001348056:exon3:c.C948T:p.I316I,CXCR4:NM_001348059:exon3:c.C834T:p.I278I",NA,NA,NA,NA,NA,NA
chr2,148695876,148695876,C,T,R010_S,ORC4,Missense_Mutation,NM_001190881,exon9,c.G793A,p.V265I,SNP,SNVindel,exonic,ORC4,NA,nonsynonymous SNV,"ORC4:NM_001190881:exon9:c.G793A:p.V265I,ORC4:NM_001190882:exon11:c.G823A:p.V275I,ORC4:NM_002552:exon12:c.G1045A:p.V349I,ORC4:NM_181741:exon12:c.G1045A:p.V349I,ORC4:NM_181742:exon12:c.G1045A:p.V349I,ORC4:NM_001190879:exon13:c.G1045A:p.V349I",T,D,D,T,N,T
chr2,149227601,149227601,C,T,R010_S,MBD5,Missense_Mutation,NM_018328,exon9,c.C2089T,p.P697S,SNP,SNVindel,exonic,MBD5,NA,nonsynonymous SNV,MBD5:NM_018328:exon9:c.C2089T:p.P697S,D,D,D,T,N,T
chr2,152319748,152319748,C,T,R010_S,RIF1,Silent,NM_001177665,exon29,c.C3714T,p.S1238S,SNP,SNVindel,exonic,RIF1,NA,synonymous SNV,"RIF1:NM_001177665:exon29:c.C3714T:p.S1238S,RIF1:NM_001177663:exon30:c.C3714T:p.S1238S,RIF1:NM_001177664:exon30:c.C3714T:p.S1238S,RIF1:NM_018151:exon30:c.C3714T:p.S1238S",NA,NA,NA,NA,NA,NA
chr2,152419312,152419312,C,T,R010_S,NEB,Missense_Mutation,NM_004543,exon93,c.G13601A,p.R4534K,SNP,SNVindel,exonic,NEB,NA,nonsynonymous SNV,"NEB:NM_004543:exon93:c.G13601A:p.R4534K,NEB:NM_001164507:exon120:c.G18704A:p.R6235K,NEB:NM_001164508:exon120:c.G18704A:p.R6235K,NEB:NM_001271208:exon120:c.G18704A:p.R6235K",T,N,D,T,N,T
chr2,152477451,152477451,A,T,R010_S,NEB,Silent,NM_004543,exon69,c.T9813A,p.S3271S,SNP,SNVindel,exonic,NEB,NA,synonymous SNV,"NEB:NM_004543:exon69:c.T9813A:p.S3271S,NEB:NM_001164507:exon72:c.T10542A:p.S3514S,NEB:NM_001164508:exon72:c.T10542A:p.S3514S,NEB:NM_001271208:exon72:c.T10542A:p.S3514S",NA,NA,NA,NA,NA,NA
chr2,158595044,158595044,C,T,R010_S,ACVR1,Missense_Mutation,NM_001105,exon10,c.G1303A,p.V435I,SNP,SNVindel,exonic,ACVR1,NA,nonsynonymous SNV,"ACVR1:NM_001105:exon10:c.G1303A:p.V435I,ACVR1:NM_001111067:exon10:c.G1303A:p.V435I,ACVR1:NM_001347663:exon10:c.G1303A:p.V435I,ACVR1:NM_001347664:exon11:c.G1303A:p.V435I,ACVR1:NM_001347665:exon11:c.G1303A:p.V435I,ACVR1:NM_001347666:exon11:c.G1303A:p.V435I,ACVR1:NM_001347667:exon11:c.G1303A:p.V435I",D,D,D,D,N,D
chr2,158626922,158626922,C,T,R010_S,ACVR1,Missense_Mutation,NM_001105,exon7,c.G748A,p.E250K,SNP,SNVindel,exonic,ACVR1,NA,nonsynonymous SNV,"ACVR1:NM_001105:exon7:c.G748A:p.E250K,ACVR1:NM_001111067:exon7:c.G748A:p.E250K,ACVR1:NM_001347663:exon7:c.G748A:p.E250K,ACVR1:NM_001347664:exon8:c.G748A:p.E250K,ACVR1:NM_001347665:exon8:c.G748A:p.E250K,ACVR1:NM_001347666:exon8:c.G748A:p.E250K,ACVR1:NM_001347667:exon8:c.G748A:p.E250K",D,D,D,D,D,D
chr2,160019908,160019908,C,T,R010_S,TANC1,Missense_Mutation,NM_001145909,exon8,c.C794T,p.A265V,SNP,SNVindel,exonic,TANC1,NA,nonsynonymous SNV,"TANC1:NM_001145909:exon8:c.C794T:p.A265V,TANC1:NM_001350064:exon8:c.C797T:p.A266V,TANC1:NM_033394:exon8:c.C797T:p.A266V,TANC1:NM_001350065:exon9:c.C797T:p.A266V",T,D,D,T,N,T
chr2,160104948,160104948,C,T,R010_S,WDSUB1,Missense_Mutation,NM_001330276,exon5,c.G839A,p.G280E,SNP,SNVindel,exonic,WDSUB1,NA,nonsynonymous SNV,"WDSUB1:NM_001330276:exon5:c.G839A:p.G280E,WDSUB1:NM_001307994:exon6:c.G932A:p.G311E,WDSUB1:NM_001330279:exon9:c.G701A:p.G234E,WDSUB1:NM_001330280:exon9:c.G494A:p.G165E,WDSUB1:NM_001128212:exon10:c.G1208A:p.G403E,WDSUB1:NM_001128213:exon10:c.G1208A:p.G403E,WDSUB1:NM_001330277:exon10:c.G947A:p.G316E,WDSUB1:NM_001330278:exon10:c.G1208A:p.G403E,WDSUB1:NM_152528:exon10:c.G1208A:p.G403E",T,N,D,T,N,T
chr2,160205730,160205730,G,A,R010_S,BAZ2B,Missense_Mutation,NM_001289975,exon28,c.C4817T,p.T1606I,SNP,SNVindel,exonic,BAZ2B,NA,nonsynonymous SNV,"BAZ2B:NM_001289975:exon28:c.C4817T:p.T1606I,BAZ2B:NM_001329857:exon29:c.C4763T:p.T1588I,BAZ2B:NM_001329858:exon29:c.C4850T:p.T1617I,BAZ2B:NM_013450:exon29:c.C4925T:p.T1642I",D,U,N,T,N,T
chr2,160615795,160615795,C,T,R010_S,MARCHF7,Silent,NM_001282806,exon6,c.C1674T,p.N558N,SNP,SNVindel,exonic,MARCHF7,NA,synonymous SNV,"MARCHF7:NM_001282806:exon6:c.C1674T:p.N558N,MARCHF7:NM_001282807:exon6:c.C1728T:p.N576N,MARCHF7:NM_022826:exon7:c.C1842T:p.N614N,MARCHF7:NM_001282805:exon9:c.C1842T:p.N614N",NA,NA,NA,NA,NA,NA
chr2,162280171,162280171,C,T,R010_S,TBR1,Silent,NM_006593,exon6,c.C1482T,p.D494D,SNP,SNVindel,exonic,TBR1,NA,synonymous SNV,TBR1:NM_006593:exon6:c.C1482T:p.D494D,NA,NA,NA,NA,NA,NA
chr2,162280472,162280472,C,T,R010_S,TBR1,Missense_Mutation,NM_006593,exon6,c.C1783T,p.P595S,SNP,SNVindel,exonic,TBR1,NA,nonsynonymous SNV,TBR1:NM_006593:exon6:c.C1783T:p.P595S,T,N,D,D,N,T
chr2,162894921,162894921,C,T,R010_S,DPP4,Nonsense_Mutation,NM_001935,exon8,c.G504A,p.W168X,SNP,SNVindel,exonic,DPP4,NA,stopgain,DPP4:NM_001935:exon8:c.G504A:p.W168X,.,D,A,.,.,.
chr2,164467256,164467256,C,T,R010_S,FIGN,Silent,NM_001321825,exon2,c.G1053A,p.G351G,SNP,SNVindel,exonic,FIGN,NA,synonymous SNV,"FIGN:NM_001321825:exon2:c.G1053A:p.G351G,FIGN:NM_018086:exon3:c.G1086A:p.G362G",NA,NA,NA,NA,NA,NA
chr2,166536174,166536174,C,T,R010_S,CSRNP3,Missense_Mutation,NM_024969,exon5,c.C1669T,p.P557S,SNP,SNVindel,exonic,CSRNP3,NA,nonsynonymous SNV,"CSRNP3:NM_024969:exon5:c.C1669T:p.P557S,CSRNP3:NM_001172173:exon7:c.C1669T:p.P557S",D,N,D,T,N,T
chr2,166894447,166894447,G,A,R010_S,SCN1A,Missense_Mutation,NM_001353948,exon16,c.C2785T,p.L929F,SNP,SNVindel,exonic,SCN1A,NA,nonsynonymous SNV,"SCN1A:NM_001353948:exon16:c.C2785T:p.L929F,SCN1A:NM_001353949:exon16:c.C2752T:p.L918F,SCN1A:NM_001353951:exon16:c.C2752T:p.L918F,SCN1A:NM_001353955:exon16:c.C2749T:p.L917F,SCN1A:NM_001353957:exon16:c.C2701T:p.L901F,SCN1A:NM_001165964:exon17:c.C2701T:p.L901F,SCN1A:NM_001202435:exon17:c.C2785T:p.L929F,SCN1A:NM_001353950:exon17:c.C2752T:p.L918F,SCN1A:NM_001353952:exon17:c.C2752T:p.L918F,SCN1A:NM_001353954:exon17:c.C2749T:p.L917F,SCN1A:NM_001353958:exon17:c.C2701T:p.L901F,SCN1A:NM_001353960:exon17:c.C2698T:p.L900F,SCN1A:NM_001353961:exon17:c.C343T:p.L115F,SCN1A:NM_001165963:exon18:c.C2785T:p.L929F,SCN1A:NM_006920:exon18:c.C2752T:p.L918F",D,D,D,D,D,D
chr2,167060571,167060571,G,A,R010_S,SCN9A,Silent,NM_001365536,exon26,c.C4668T,p.I1556I,SNP,SNVindel,exonic,SCN9A,NA,synonymous SNV,"SCN9A:NM_001365536:exon26:c.C4668T:p.I1556I,SCN9A:NM_002977:exon26:c.C4635T:p.I1545I",NA,NA,NA,NA,NA,NA
chr2,167262114,167262114,C,T,R010_S,SCN7A,Silent,NM_002976,exon25,c.G5025A,p.K1675K,SNP,SNVindel,exonic,SCN7A,NA,synonymous SNV,SCN7A:NM_002976:exon25:c.G5025A:p.K1675K,NA,NA,NA,NA,NA,NA
chr2,168098362,168098362,C,T,R010_S,XIRP2,Missense_Mutation,NM_001199144,exon6,c.C452T,p.A151V,SNP,SNVindel,exonic,XIRP2,NA,nonsynonymous SNV,"XIRP2:NM_001199144:exon6:c.C452T:p.A151V,XIRP2:NM_001199145:exon6:c.C452T:p.A151V,XIRP2:NM_001079810:exon8:c.C1118T:p.A373V,XIRP2:NM_152381:exon8:c.C1118T:p.A373V,XIRP2:NM_001199143:exon9:c.C1217T:p.A406V",T,N,N,T,N,T
chr2,168104773,168104773,C,T,R010_S,XIRP2,Missense_Mutation,NM_001199144,exon7,c.C6205T,p.P2069S,SNP,SNVindel,exonic,XIRP2,NA,nonsynonymous SNV,"XIRP2:NM_001199144:exon7:c.C6205T:p.P2069S,XIRP2:NM_152381:exon9:c.C6871T:p.P2291S",D,N,D,T,D,T
chr2,168114568,168114568,C,T,R010_S,XIRP2,Silent,NM_001199145,exon8,c.C846T,p.T282T,SNP,SNVindel,exonic,XIRP2,NA,synonymous SNV,"XIRP2:NM_001199145:exon8:c.C846T:p.T282T,XIRP2:NM_001079810:exon10:c.C1512T:p.T504T,XIRP2:NM_001199143:exon11:c.C1611T:p.T537T",NA,NA,NA,NA,NA,NA
chr2,169718530,169718530,G,A,R010_S,NOSTRIN,Missense_Mutation,NM_001171632,exon14,c.G1271A,p.R424K,SNP,SNVindel,exonic,NOSTRIN,NA,nonsynonymous SNV,"NOSTRIN:NM_001171632:exon14:c.G1271A:p.R424K,NOSTRIN:NM_052946:exon14:c.G1121A:p.R374K,NOSTRIN:NM_001039724:exon15:c.G1355A:p.R452K,NOSTRIN:NM_001171631:exon20:c.G1526A:p.R509K",T,D,D,T,N,T
chr2,169842761,169842761,C,T,R010_S,ABCB11,Nonsense_Mutation,NM_003742,exon10,c.G942A,p.W314X,SNP,SNVindel,exonic,ABCB11,NA,stopgain,ABCB11:NM_003742:exon10:c.G942A:p.W314X,.,D,A,.,.,.
chr2,171071302,171071302,C,T,R010_S,MYO3B,Silent,NM_001083615,exon5,c.C490T,p.L164L,SNP,SNVindel,exonic,MYO3B,NA,synonymous SNV,"MYO3B:NM_001083615:exon5:c.C490T:p.L164L,MYO3B:NM_138995:exon5:c.C490T:p.L164L",NA,NA,NA,NA,NA,NA
chr2,171627207,171627207,C,T,R010_S,ERICH2,Missense_Mutation,NM_001290030,exon1,c.C16T,p.P6S,SNP,SNVindel,exonic,ERICH2,NA,nonsynonymous SNV,"ERICH2:NM_001290030:exon1:c.C16T:p.P6S,ERICH2:NM_001290031:exon1:c.C16T:p.P6S",NA,NA,NA,NA,NA,NA
chr2,173334025,173334025,C,T,R010_S,ITGA6,Missense_Mutation,NM_000210,exon4,c.C560T,p.S187F,SNP,SNVindel,exonic,ITGA6,NA,nonsynonymous SNV,"ITGA6:NM_000210:exon4:c.C560T:p.S187F,ITGA6:NM_001079818:exon4:c.C560T:p.S187F,ITGA6:NM_001316306:exon4:c.C218T:p.S73F,ITGA6:NM_001365529:exon4:c.C560T:p.S187F,ITGA6:NM_001365530:exon4:c.C560T:p.S187F",T,D,D,T,N,T
chr2,175201975,175201975,G,A,R010_S,SP9,Missense_Mutation,NM_001145250,exon2,c.G1162A,p.G388S,SNP,SNVindel,exonic,SP9,NA,nonsynonymous SNV,SP9:NM_001145250:exon2:c.G1162A:p.G388S,D,.,D,T,D,T
chr2,175213808,175213808,G,A,R010_S,CIR1,Missense_Mutation,NM_004882,exon10,c.C770T,p.S257F,SNP,SNVindel,exonic,CIR1,NA,nonsynonymous SNV,CIR1:NM_004882:exon10:c.C770T:p.S257F,D,N,N,.,D,T
chr2,176964917,176964917,G,A,R010_S,HOXD12,Missense_Mutation,NM_021193,exon1,c.G388A,p.A130T,SNP,SNVindel,exonic,HOXD12,NA,nonsynonymous SNV,HOXD12:NM_021193:exon1:c.G388A:p.A130T,T,N,N,T,N,T
chr2,176964972,176964972,G,A,R010_S,HOXD12,Missense_Mutation,NM_021193,exon1,c.G443A,p.G148D,SNP,SNVindel,exonic,HOXD12,NA,nonsynonymous SNV,HOXD12:NM_021193:exon1:c.G443A:p.G148D,T,D,D,T,D,T
chr2,179398394,179398394,G,A,R010_S,TTN,Silent,NM_003319,exon186,c.C75753T,p.Y25251Y,SNP,SNVindel,exonic,TTN,NA,synonymous SNV,"TTN:NM_003319:exon186:c.C75753T:p.Y25251Y,TTN:NM_133432:exon187:c.C76128T:p.Y25376Y,TTN:NM_133437:exon187:c.C76329T:p.Y25443Y,TTN:NM_133378:exon307:c.C95244T:p.Y31748Y,TTN:NM_001256850:exon308:c.C98025T:p.Y32675Y,TTN:NM_001267550:exon358:c.C102948T:p.Y34316Y",NA,NA,NA,NA,NA,NA
chr2,179441283,179441283,C,T,R010_S,TTN,Missense_Mutation,NM_003319,exon153,c.G42493A,p.D14165N,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon153:c.G42493A:p.D14165N,TTN:NM_133432:exon154:c.G42868A:p.D14290N,TTN:NM_133437:exon154:c.G43069A:p.D14357N,TTN:NM_133378:exon274:c.G61984A:p.D20662N,TTN:NM_001256850:exon275:c.G64765A:p.D21589N,TTN:NM_001267550:exon325:c.G69688A:p.D23230N",T,.,N,T,N,T
chr2,179462333,179462333,C,T,R010_S,TTN,Missense_Mutation,NM_003319,exon122,c.G30281A,p.G10094D,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon122:c.G30281A:p.G10094D,TTN:NM_133432:exon123:c.G30656A:p.G10219D,TTN:NM_133437:exon123:c.G30857A:p.G10286D,TTN:NM_133378:exon243:c.G49772A:p.G16591D,TTN:NM_001256850:exon244:c.G52553A:p.G17518D,TTN:NM_001267550:exon294:c.G57476A:p.G19159D",D,.,D,T,D,D
chr2,179476210,179476210,C,T,R010_S,TTN,Missense_Mutation,NM_003319,exon97,c.G23551A,p.E7851K,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon97:c.G23551A:p.E7851K,TTN:NM_133432:exon98:c.G23926A:p.E7976K,TTN:NM_133437:exon98:c.G24127A:p.E8043K,TTN:NM_133378:exon218:c.G43042A:p.E14348K,TTN:NM_001256850:exon219:c.G45823A:p.E15275K,TTN:NM_001267550:exon269:c.G50746A:p.E16916K",T,.,D,T,D,T
chr2,179536962,179536962,C,T,R010_S,TTN,Missense_Mutation,NM_133378,exon150,c.G31060A,p.A10354T,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon150:c.G31060A:p.A10354T,TTN:NM_001256850:exon151:c.G33841A:p.A11281T,TTN:NM_001267550:exon155:c.G34963A:p.A11655T",D,.,D,T,N,T
chr2,179539784,179539784,C,T,R010_S,TTN,Missense_Mutation,NM_133378,exon145,c.G30691A,p.E10231K,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon145:c.G30691A:p.E10231K,TTN:NM_001256850:exon146:c.G33472A:p.E11158K,TTN:NM_001267550:exon150:c.G34594A:p.E11532K",D,.,D,T,N,T
chr2,179569915,179569915,C,T,R010_S,TTN,Missense_Mutation,NM_133378,exon100,c.G25858A,p.E8620K,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_133378:exon100:c.G25858A:p.E8620K,TTN:NM_001256850:exon101:c.G28639A:p.E9547K,TTN:NM_001267550:exon103:c.G29590A:p.E9864K",T,.,D,T,D,T
chr2,182786943,182786943,C,T,R010_S,ITPRID2,Missense_Mutation,NM_001287504,exon14,c.C2954T,p.P985L,SNP,SNVindel,exonic,ITPRID2,NA,nonsynonymous SNV,"ITPRID2:NM_001287504:exon14:c.C2954T:p.P985L,ITPRID2:NM_001287503:exon15:c.C3413T:p.P1138L,ITPRID2:NM_001130445:exon16:c.C3479T:p.P1160L,ITPRID2:NM_006751:exon16:c.C3479T:p.P1160L",D,N,D,T,D,T
chr2,183595767,183595767,C,T,R010_S,DNAJC10,Silent,NM_001271581,exon9,c.C738T,p.V246V,SNP,SNVindel,exonic,DNAJC10,NA,synonymous SNV,"DNAJC10:NM_001271581:exon9:c.C738T:p.V246V,DNAJC10:NM_018981:exon9:c.C738T:p.V246V",NA,NA,NA,NA,NA,NA
chr2,183995157,183995157,C,T,R010_S,NUP35,Missense_Mutation,NM_138285,exon3,c.C223T,p.P75S,SNP,SNVindel,exonic,NUP35,NA,nonsynonymous SNV,"NUP35:NM_138285:exon3:c.C223T:p.P75S,NUP35:NM_001287584:exon4:c.C172T:p.P58S",D,D,D,T,D,T
chr2,184023072,184023072,C,T,R010_S,NUP35,Missense_Mutation,NM_138285,exon7,c.C671T,p.A224V,SNP,SNVindel,exonic,NUP35,NA,nonsynonymous SNV,"NUP35:NM_138285:exon7:c.C671T:p.A224V,NUP35:NM_001287584:exon8:c.C620T:p.A207V,NUP35:NM_001287585:exon8:c.C317T:p.A106V",D,D,D,.,D,D
chr2,186667191,186667191,G,A,R010_S,FSIP2,Silent,NM_173651,exon17,c.G13158A,p.G4386G,SNP,SNVindel,exonic,FSIP2,NA,synonymous SNV,FSIP2:NM_173651:exon17:c.G13158A:p.G4386G,NA,NA,NA,NA,NA,NA
chr2,186667857,186667857,G,A,R010_S,FSIP2,Silent,NM_173651,exon17,c.G13824A,p.E4608E,SNP,SNVindel,exonic,FSIP2,NA,synonymous SNV,FSIP2:NM_173651:exon17:c.G13824A:p.E4608E,NA,NA,NA,NA,NA,NA
chr2,186672694,186672694,C,T,R010_S,FSIP2,Nonsense_Mutation,NM_173651,exon17,c.C18661T,p.Q6221X,SNP,SNVindel,exonic,FSIP2,NA,stopgain,FSIP2:NM_173651:exon17:c.C18661T:p.Q6221X,.,N,A,.,.,.
chr2,187351152,187351152,G,A,R010_S,ZC3H15,Missense_Mutation,NM_018471,exon1,c.G43A,p.A15T,SNP,SNVindel,exonic,ZC3H15,NA,nonsynonymous SNV,ZC3H15:NM_018471:exon1:c.G43A:p.A15T,T,N,D,T,N,T
chr2,187625963,187625963,G,A,R010_S,FAM171B,Missense_Mutation,NM_177454,exon7,c.G1136A,p.R379K,SNP,SNVindel,exonic,FAM171B,NA,nonsynonymous SNV,FAM171B:NM_177454:exon7:c.G1136A:p.R379K,D,D,D,T,N,T
chr2,189452674,189452674,C,T,R010_S,GULP1,Nonsense_Mutation,NM_001252669,exon8,c.C532T,p.Q178X,SNP,SNVindel,exonic,GULP1,NA,stopgain,"GULP1:NM_001252669:exon8:c.C532T:p.Q178X,GULP1:NM_001252668:exon11:c.C841T:p.Q281X,GULP1:NM_016315:exon11:c.C841T:p.Q281X",.,D,D,.,.,.
chr2,190334831,190334831,C,T,R010_S,WDR75,Missense_Mutation,NM_032168,exon17,c.C1849T,p.P617S,SNP,SNVindel,exonic,WDR75,NA,nonsynonymous SNV,"WDR75:NM_032168:exon17:c.C1849T:p.P617S,WDR75:NM_001303096:exon18:c.C1657T:p.P553S",D,D,D,T,D,T
chr2,190535351,190535351,G,A,R010_S,ASNSD1,Missense_Mutation,NM_001353497,exon5,c.G1831A,p.A611T,SNP,SNVindel,exonic,ASNSD1,NA,nonsynonymous SNV,"ASNSD1:NM_001353497:exon5:c.G1831A:p.A611T,ASNSD1:NM_019048:exon6:c.G1831A:p.A611T",D,N,D,T,D,T
chr2,191524162,191524162,C,T,R010_S,NAB1,Missense_Mutation,NM_001321314,exon1,c.C260T,p.T87I,SNP,SNVindel,exonic,NAB1,NA,nonsynonymous SNV,"NAB1:NM_001321314:exon1:c.C260T:p.T87I,NAB1:NM_001321315:exon1:c.C260T:p.T87I,NAB1:NM_001321312:exon2:c.C260T:p.T87I,NAB1:NM_001321313:exon2:c.C260T:p.T87I,NAB1:NM_005966:exon4:c.C260T:p.T87I",D,D,D,.,D,T
chr2,197184157,197184157,C,T,R010_S,HECW2,Missense_Mutation,NM_001304840,exon7,c.G389A,p.G130E,SNP,SNVindel,exonic,HECW2,NA,nonsynonymous SNV,"HECW2:NM_001304840:exon7:c.G389A:p.G130E,HECW2:NM_001348768:exon9:c.G1457A:p.G486E,HECW2:NM_020760:exon9:c.G1457A:p.G486E",D,N,D,T,N,T
chr2,197540974,197540974,C,T,R010_S,CCDC150,Silent,NM_001353339,exon7,c.C249T,p.T83T,SNP,SNVindel,exonic,CCDC150,NA,synonymous SNV,"CCDC150:NM_001353339:exon7:c.C249T:p.T83T,CCDC150:NM_001080539:exon11:c.C1245T:p.T415T",NA,NA,NA,NA,NA,NA
chr2,197594573,197594573,G,A,R010_S,CCDC150,Silent,NM_001353340,exon7,c.G837A,p.K279K,SNP,SNVindel,exonic,CCDC150,NA,synonymous SNV,"CCDC150:NM_001353340:exon7:c.G837A:p.K279K,CCDC150:NM_001353339:exon19:c.G1749A:p.K583K,CCDC150:NM_001080539:exon24:c.G2808A:p.K936K",NA,NA,NA,NA,NA,NA
chr2,198388373,198388373,C,T,R010_S,HSPE1-MOB4,Missense_Mutation,NM_015387,exon2,c.C86T,p.S29F,SNP,SNVindel,exonic,HSPE1-MOB4;MOB4,NA,nonsynonymous SNV,"MOB4:NM_015387:exon2:c.C86T:p.S29F,HSPE1-MOB4:NM_001202485:exon3:c.C194T:p.S65F",D,N,D,.,D,T
chr2,198498684,198498684,C,T,R010_S,RFTN2,Missense_Mutation,NM_144629,exon4,c.G476A,p.G159E,SNP,SNVindel,exonic,RFTN2,NA,nonsynonymous SNV,RFTN2:NM_144629:exon4:c.G476A:p.G159E,D,N,D,T,D,T
chr2,198570776,198570776,C,T,R010_S,MARS2,Missense_Mutation,NM_138395,exon1,c.C647T,p.S216F,SNP,SNVindel,exonic,MARS2,NA,nonsynonymous SNV,MARS2:NM_138395:exon1:c.C647T:p.S216F,D,D,D,T,D,D
chr2,198950741,198950741,G,A,R010_S,PLCL1,Missense_Mutation,NM_006226,exon2,c.G2500A,p.D834N,SNP,SNVindel,exonic,PLCL1,NA,nonsynonymous SNV,PLCL1:NM_006226:exon2:c.G2500A:p.D834N,D,N,D,T,N,T
chr2,201437347,201437347,G,A,R010_S,SGO2,Missense_Mutation,NM_001160033,exon7,c.G2278A,p.D760N,SNP,SNVindel,exonic,SGO2,NA,nonsynonymous SNV,"SGO2:NM_001160033:exon7:c.G2278A:p.D760N,SGO2:NM_001160046:exon7:c.G2278A:p.D760N,SGO2:NM_152524:exon7:c.G2278A:p.D760N",T,N,N,T,N,T
chr2,201467038,201467038,C,T,R010_S,AOX1,Silent,NM_001159,exon6,c.C468T,p.P156P,SNP,SNVindel,exonic,AOX1,NA,synonymous SNV,AOX1:NM_001159:exon6:c.C468T:p.P156P,NA,NA,NA,NA,NA,NA
chr2,202744826,202744826,C,T,R010_S,CDK15,Silent,NM_001261435,exon12,c.C1134T,p.A378A,SNP,SNVindel,exonic,CDK15,NA,synonymous SNV,"CDK15:NM_001261435:exon12:c.C1134T:p.A378A,CDK15:NM_001261436:exon12:c.C1134T:p.A378A,CDK15:NM_001366386:exon12:c.C1134T:p.A378A,CDK15:NM_139158:exon12:c.C981T:p.A327A",NA,NA,NA,NA,NA,NA
chr2,203384814,203384814,C,T,R010_S,BMPR2,Missense_Mutation,NM_001204,exon7,c.C857T,p.S286F,SNP,SNVindel,exonic,BMPR2,NA,nonsynonymous SNV,BMPR2:NM_001204:exon7:c.C857T:p.S286F,D,D,D,D,D,D
chr2,203831734,203831734,G,A,R010_S,CARF,Missense_Mutation,NM_001282912,exon7,c.G602A,p.G201E,SNP,SNVindel,exonic,CARF,NA,nonsynonymous SNV,"CARF:NM_001282912:exon7:c.G602A:p.G201E,CARF:NM_001352676:exon7:c.G308A:p.G103E,CARF:NM_001282910:exon8:c.G638A:p.G213E,CARF:NM_001322429:exon8:c.G830A:p.G277E,CARF:NM_001352677:exon8:c.G560A:p.G187E,CARF:NM_001104586:exon9:c.G866A:p.G289E,CARF:NM_001282911:exon9:c.G638A:p.G213E,CARF:NM_001322428:exon9:c.G866A:p.G289E,CARF:NM_001322427:exon10:c.G866A:p.G289E,CARF:NM_024744:exon10:c.G866A:p.G289E",D,D,D,.,D,T
chr2,203996768,203996768,G,A,R010_S,NBEAL1,Missense_Mutation,NM_001114132,exon25,c.G3550A,p.G1184S,SNP,SNVindel,exonic,NBEAL1,NA,nonsynonymous SNV,NBEAL1:NM_001114132:exon25:c.G3550A:p.G1184S,T,.,D,T,D,T
chr2,204001407,204001407,C,T,R010_S,NBEAL1,Missense_Mutation,NM_001114132,exon28,c.C4388T,p.T1463I,SNP,SNVindel,exonic,NBEAL1,NA,nonsynonymous SNV,NBEAL1:NM_001114132:exon28:c.C4388T:p.T1463I,T,N,D,T,N,T
chr2,204193313,204193313,C,T,R010_S,ABI2,Silent,NM_001282925,exon1,c.C76T,p.L26L,SNP,SNVindel,exonic,ABI2,NA,synonymous SNV,"ABI2:NM_001282925:exon1:c.C76T:p.L26L,ABI2:NM_001282926:exon1:c.C76T:p.L26L,ABI2:NM_005759:exon1:c.C76T:p.L26L",NA,NA,NA,NA,NA,NA
chr2,204304639,204304639,C,T,R010_S,RAPH1,Missense_Mutation,NM_213589,exon14,c.G3274A,p.V1092I,SNP,SNVindel,exonic,RAPH1,NA,nonsynonymous SNV,RAPH1:NM_213589:exon14:c.G3274A:p.V1092I,T,U,D,T,N,T
chr2,206927543,206927543,G,A,R010_S,INO80D,Silent,NM_017759,exon3,c.C198T,p.I66I,SNP,SNVindel,exonic,INO80D,NA,synonymous SNV,INO80D:NM_017759:exon3:c.C198T:p.I66I,NA,NA,NA,NA,NA,NA
chr2,207174701,207174701,C,T,R010_S,ZDBF2,Missense_Mutation,NM_020923,exon5,c.C5449T,p.L1817F,SNP,SNVindel,exonic,ZDBF2,NA,nonsynonymous SNV,"ZDBF2:NM_020923:exon5:c.C5449T:p.L1817F,ZDBF2:NM_001369654:exon6:c.C5449T:p.L1817F,ZDBF2:NM_001285549:exon7:c.C5443T:p.L1815F",T,.,N,T,D,T
chr2,208425038,208425038,G,A,R010_S,CREB1,Missense_Mutation,NM_001371428,exon2,c.G83A,p.G28E,SNP,SNVindel,exonic,CREB1,NA,nonsynonymous SNV,"CREB1:NM_001371428:exon2:c.G83A:p.G28E,CREB1:NM_001320793:exon3:c.G203A:p.G68E,CREB1:NM_001371426:exon3:c.G203A:p.G68E,CREB1:NM_001371427:exon3:c.G203A:p.G68E,CREB1:NM_004379:exon3:c.G203A:p.G68E,CREB1:NM_134442:exon3:c.G203A:p.G68E",D,D,D,T,D,D
chr2,208477842,208477842,C,T,R010_S,METTL21A,Silent,NM_001127395,exon4,c.G585A,p.K195K,SNP,SNVindel,exonic,METTL21A,NA,synonymous SNV,"METTL21A:NM_001127395:exon4:c.G585A:p.K195K,METTL21A:NM_001330130:exon4:c.G585A:p.K195K,METTL21A:NM_001330134:exon4:c.G585A:p.K195K,METTL21A:NM_145280:exon4:c.G585A:p.K195K,METTL21A:NM_001330137:exon5:c.G639A:p.K213K",NA,NA,NA,NA,NA,NA
chr2,209104665,209104665,C,T,R010_S,IDH1,Missense_Mutation,NM_001282386,exon8,c.G913A,p.A305T,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon8:c.G913A:p.A305T,IDH1:NM_001282387:exon8:c.G913A:p.A305T,IDH1:NM_005896:exon8:c.G913A:p.A305T",D,D,D,T,N,T
chr2,209116256,209116256,C,T,R010_S,IDH1,Missense_Mutation,NM_001282386,exon3,c.G20A,p.G7D,SNP,SNVindel,exonic,IDH1,NA,nonsynonymous SNV,"IDH1:NM_001282386:exon3:c.G20A:p.G7D,IDH1:NM_001282387:exon3:c.G20A:p.G7D,IDH1:NM_005896:exon3:c.G20A:p.G7D",T,D,D,T,N,T
chr2,209204197,209204197,C,T,R010_S,PIKFYVE,Silent,NM_015040,exon30,c.C4728T,p.L1576L,SNP,SNVindel,exonic,PIKFYVE,NA,synonymous SNV,PIKFYVE:NM_015040:exon30:c.C4728T:p.L1576L,NA,NA,NA,NA,NA,NA
chr2,210594576,210594576,G,A,R010_S,MAP2,Missense_Mutation,NM_001363913,exon11,c.G1090A,p.G364S,SNP,SNVindel,exonic,MAP2,NA,nonsynonymous SNV,"MAP2:NM_001363913:exon11:c.G1090A:p.G364S,MAP2:NM_031845:exon11:c.G1090A:p.G364S,MAP2:NM_031847:exon12:c.G1183A:p.G395S,MAP2:NM_001039538:exon14:c.G1354A:p.G452S,MAP2:NM_001363911:exon14:c.G5146A:p.G1716S,MAP2:NM_002374:exon14:c.G5158A:p.G1720S,MAP2:NM_001363910:exon15:c.G5146A:p.G1716S",D,D,D,D,D,D
chr2,216229698,216229698,C,T,R010_S,FN1,Silent,NM_001365523,exon42,c.G6537A,p.T2179T,SNP,SNVindel,exonic,FN1,NA,synonymous SNV,"FN1:NM_001365523:exon42:c.G6537A:p.T2179T,FN1:NM_212474:exon42:c.G6252A:p.T2084T,FN1:NM_212476:exon42:c.G6612A:p.T2204T,FN1:NM_001306130:exon43:c.G6525A:p.T2175T,FN1:NM_001306131:exon43:c.G6519A:p.T2173T,FN1:NM_001306132:exon43:c.G6444A:p.T2148T,FN1:NM_001365517:exon43:c.G6885A:p.T2295T,FN1:NM_001365518:exon43:c.G6882A:p.T2294T,FN1:NM_001365519:exon43:c.G6810A:p.T2270T,FN1:NM_001365520:exon43:c.G6807A:p.T2269T,FN1:NM_001365524:exon43:c.G6522A:p.T2174T,FN1:NM_001365521:exon44:c.G6792A:p.T2264T,FN1:NM_001365522:exon44:c.G6717A:p.T2239T,FN1:NM_002026:exon44:c.G6789A:p.T2263T,FN1:NM_212478:exon44:c.G6714A:p.T2238T,FN1:NM_212482:exon44:c.G7155A:p.T2385T,FN1:NM_001306129:exon45:c.G7062A:p.T2354T",NA,NA,NA,NA,NA,NA
chr2,216288956,216288956,C,T,R010_S,FN1,Missense_Mutation,NM_001306129,exon8,c.G1129A,p.E377K,SNP,SNVindel,exonic,FN1,NA,nonsynonymous SNV,"FN1:NM_001306129:exon8:c.G1129A:p.E377K,FN1:NM_001306130:exon8:c.G1129A:p.E377K,FN1:NM_001306131:exon8:c.G1129A:p.E377K,FN1:NM_001306132:exon8:c.G1129A:p.E377K,FN1:NM_001365517:exon8:c.G1129A:p.E377K,FN1:NM_001365518:exon8:c.G1129A:p.E377K,FN1:NM_001365519:exon8:c.G1129A:p.E377K,FN1:NM_001365520:exon8:c.G1129A:p.E377K,FN1:NM_001365521:exon8:c.G1129A:p.E377K,FN1:NM_001365522:exon8:c.G1129A:p.E377K,FN1:NM_001365523:exon8:c.G1129A:p.E377K,FN1:NM_001365524:exon8:c.G1129A:p.E377K,FN1:NM_002026:exon8:c.G1129A:p.E377K,FN1:NM_054034:exon8:c.G1129A:p.E377K,FN1:NM_212474:exon8:c.G1129A:p.E377K,FN1:NM_212476:exon8:c.G1129A:p.E377K,FN1:NM_212478:exon8:c.G1129A:p.E377K,FN1:NM_212482:exon8:c.G1129A:p.E377K",D,D,D,T,N,T
chr2,218999586,218999586,G,A,R010_S,CXCR2,Missense_Mutation,NM_001557,exon3,c.G62A,p.S21N,SNP,SNVindel,exonic,CXCR2,NA,nonsynonymous SNV,"CXCR2:NM_001557:exon3:c.G62A:p.S21N,CXCR2:NM_001168298:exon4:c.G62A:p.S21N",T,U,N,T,N,T
chr2,219516715,219516715,C,T,R010_S,ZNF142,Missense_Mutation,NM_001366290,exon4,c.G589A,p.E197K,SNP,SNVindel,exonic,ZNF142,NA,nonsynonymous SNV,ZNF142:NM_001366290:exon4:c.G589A:p.E197K,NA,NA,NA,NA,NA,NA
chr2,219618943,219618943,C,T,R010_S,TTLL4,Missense_Mutation,NM_014640,exon20,c.C3431T,p.P1144L,SNP,SNVindel,exonic,TTLL4,NA,nonsynonymous SNV,TTLL4:NM_014640:exon20:c.C3431T:p.P1144L,T,N,N,T,N,T
chr2,219883849,219883849,C,T,R010_S,CFAP65,Missense_Mutation,NM_194302,exon21,c.G3526A,p.G1176R,SNP,SNVindel,exonic,CFAP65,NA,nonsynonymous SNV,CFAP65:NM_194302:exon21:c.G3526A:p.G1176R,D,D,D,T,D,T
chr2,220087062,220087062,G,A,R010_S,ATG9A,Silent,NM_024085,exon11,c.C1959T,p.R653R,SNP,SNVindel,exonic,ATG9A,NA,synonymous SNV,"ATG9A:NM_024085:exon11:c.C1959T:p.R653R,ATG9A:NM_001077198:exon12:c.C1959T:p.R653R",NA,NA,NA,NA,NA,NA
chr2,220285027,220285027,C,T,R010_S,DES,Missense_Mutation,NM_001927,exon3,c.C694T,p.L232F,SNP,SNVindel,exonic,DES,NA,nonsynonymous SNV,DES:NM_001927:exon3:c.C694T:p.L232F,D,N,D,D,D,D
chr2,220333702,220333702,C,T,R010_S,SPEG,Silent,NM_005876,exon12,c.C3423T,p.T1141T,SNP,SNVindel,exonic,SPEG,NA,synonymous SNV,SPEG:NM_005876:exon12:c.C3423T:p.T1141T,NA,NA,NA,NA,NA,NA
chr2,220353590,220353590,C,T,R010_S,SPEG,Missense_Mutation,NM_005876,exon34,c.C8117T,p.P2706L,SNP,SNVindel,exonic,SPEG,NA,nonsynonymous SNV,SPEG:NM_005876:exon34:c.C8117T:p.P2706L,T,N,D,T,D,T
chr2,220396480,220396480,G,A,R010_S,ASIC4,Missense_Mutation,NM_018674,exon2,c.G964A,p.V322I,SNP,SNVindel,exonic,ASIC4,NA,nonsynonymous SNV,"ASIC4:NM_018674:exon2:c.G964A:p.V322I,ASIC4:NM_182847:exon2:c.G964A:p.V322I",T,D,D,T,N,T
chr2,220502347,220502347,G,A,R010_S,SLC4A3,Silent,NM_001326559,exon17,c.G2661A,p.G887G,SNP,SNVindel,exonic,SLC4A3,NA,synonymous SNV,"SLC4A3:NM_001326559:exon17:c.G2661A:p.G887G,SLC4A3:NM_005070:exon17:c.G2580A:p.G860G,SLC4A3:NM_201574:exon17:c.G2661A:p.G887G",NA,NA,NA,NA,NA,NA
chr2,223489062,223489062,C,T,R010_S,FARSB,Missense_Mutation,NM_005687,exon12,c.G1099A,p.D367N,SNP,SNVindel,exonic,FARSB,NA,nonsynonymous SNV,FARSB:NM_005687:exon12:c.G1099A:p.D367N,D,D,D,T,D,T
chr2,225695258,225695258,C,T,R010_S,DOCK10,Silent,NM_001290263,exon27,c.G3018A,p.Q1006Q,SNP,SNVindel,exonic,DOCK10,NA,synonymous SNV,"DOCK10:NM_001290263:exon27:c.G3018A:p.Q1006Q,DOCK10:NM_001363762:exon27:c.G3075A:p.Q1025Q,DOCK10:NM_014689:exon27:c.G3036A:p.Q1012Q",NA,NA,NA,NA,NA,NA
chr2,225739410,225739410,C,T,R010_S,DOCK10,Silent,NM_001290263,exon9,c.G972A,p.E324E,SNP,SNVindel,exonic,DOCK10,NA,synonymous SNV,"DOCK10:NM_001290263:exon9:c.G972A:p.E324E,DOCK10:NM_001363762:exon9:c.G1029A:p.E343E,DOCK10:NM_014689:exon9:c.G990A:p.E330E",NA,NA,NA,NA,NA,NA
chr2,227896928,227896928,G,A,R010_S,COL4A4,Silent,NM_000092,exon39,c.C3642T,p.D1214D,SNP,SNVindel,exonic,COL4A4,NA,synonymous SNV,COL4A4:NM_000092:exon39:c.C3642T:p.D1214D,NA,NA,NA,NA,NA,NA
chr2,227924927,227924927,G,A,R010_S,COL4A4,Missense_Mutation,NM_000092,exon27,c.C2089T,p.P697S,SNP,SNVindel,exonic,COL4A4,NA,nonsynonymous SNV,COL4A4:NM_000092:exon27:c.C2089T:p.P697S,D,.,D,D,D,D
chr2,228135499,228135499,C,T,R010_S,COL4A3,Missense_Mutation,NM_000091,exon25,c.C1589T,p.A530V,SNP,SNVindel,exonic,COL4A3,NA,nonsynonymous SNV,COL4A3:NM_000091:exon25:c.C1589T:p.A530V,T,N,N,D,N,T
chr2,228996762,228996762,C,T,R010_S,SPHKAP,Silent,NM_001142644,exon2,c.G72A,p.P24P,SNP,SNVindel,exonic,SPHKAP,NA,synonymous SNV,"SPHKAP:NM_001142644:exon2:c.G72A:p.P24P,SPHKAP:NM_030623:exon2:c.G72A:p.P24P",NA,NA,NA,NA,NA,NA
chr2,230672571,230672571,C,T,R010_S,TRIP12,Missense_Mutation,NM_001284216,exon14,c.G1314A,p.M438I,SNP,SNVindel,exonic,TRIP12,NA,nonsynonymous SNV,"TRIP12:NM_001284216:exon14:c.G1314A:p.M438I,TRIP12:NM_001284215:exon16:c.G2223A:p.M741I,TRIP12:NM_001348316:exon16:c.G2223A:p.M741I,TRIP12:NM_001348317:exon16:c.G2223A:p.M741I,TRIP12:NM_001348318:exon16:c.G2223A:p.M741I,TRIP12:NM_001348331:exon16:c.G2223A:p.M741I,TRIP12:NM_004238:exon16:c.G2205A:p.M735I,TRIP12:NM_001284214:exon17:c.G2349A:p.M783I,TRIP12:NM_001348315:exon17:c.G2349A:p.M783I,TRIP12:NM_001348319:exon17:c.G2349A:p.M783I,TRIP12:NM_001348320:exon17:c.G2349A:p.M783I,TRIP12:NM_001348321:exon17:c.G2349A:p.M783I,TRIP12:NM_001348323:exon17:c.G2349A:p.M783I,TRIP12:NM_001348324:exon17:c.G2349A:p.M783I,TRIP12:NM_001348326:exon17:c.G2349A:p.M783I,TRIP12:NM_001348327:exon17:c.G2349A:p.M783I,TRIP12:NM_001348328:exon17:c.G2349A:p.M783I,TRIP12:NM_001348329:exon17:c.G2349A:p.M783I,TRIP12:NM_001348330:exon17:c.G2349A:p.M783I,TRIP12:NM_001348333:exon17:c.G2349A:p.M783I,TRIP12:NM_001348322:exon18:c.G2349A:p.M783I,TRIP12:NM_001348325:exon18:c.G2349A:p.M783I,TRIP12:NM_001348332:exon18:c.G2262A:p.M754I",D,D,D,T,D,T
chr2,231152610,231152610,G,A,R010_S,SP140,Missense_Mutation,NM_001278453,exon15,c.G1307A,p.R436K,SNP,SNVindel,exonic,SP140,NA,nonsynonymous SNV,"SP140:NM_001278453:exon15:c.G1307A:p.R436K,SP140:NM_001278452:exon16:c.G1469A:p.R490K,SP140:NM_001278451:exon17:c.G1568A:p.R523K,SP140:NM_007237:exon18:c.G1649A:p.R550K",T,.,N,T,N,T
chr2,231738157,231738157,C,T,R010_S,ITM2C,Missense_Mutation,NM_001012516,exon2,c.C146T,p.S49F,SNP,SNVindel,exonic,ITM2C,NA,nonsynonymous SNV,"ITM2C:NM_001012516:exon2:c.C146T:p.S49F,ITM2C:NM_030926:exon2:c.C146T:p.S49F,ITM2C:NM_001287241:exon3:c.C146T:p.S49F",T,N,D,T,N,T
chr2,232135716,232135716,C,T,R010_S,ARMC9,Missense_Mutation,NM_001352757,exon12,c.C1042T,p.H348Y,SNP,SNVindel,exonic,ARMC9,NA,nonsynonymous SNV,"ARMC9:NM_001352757:exon12:c.C1042T:p.H348Y,ARMC9:NM_001352758:exon12:c.C1042T:p.H348Y,ARMC9:NM_001291656:exon13:c.C1141T:p.H381Y,ARMC9:NM_001352755:exon13:c.C1141T:p.H381Y,ARMC9:NM_001352756:exon13:c.C1141T:p.H381Y,ARMC9:NM_001352759:exon13:c.C1141T:p.H381Y,ARMC9:NM_025139:exon13:c.C1141T:p.H381Y",T,N,N,T,N,T
chr2,232458585,232458585,G,A,R010_S,TEX44,Missense_Mutation,NM_152614,exon1,c.G923A,p.G308D,SNP,SNVindel,exonic,TEX44,NA,nonsynonymous SNV,TEX44:NM_152614:exon1:c.G923A:p.G308D,D,N,N,T,D,T
chr2,232653313,232653313,C,T,R010_S,COPS7B,Silent,NM_001282950,exon2,c.C33T,p.L11L,SNP,SNVindel,exonic,COPS7B,NA,synonymous SNV,"COPS7B:NM_001282950:exon2:c.C33T:p.L11L,COPS7B:NM_001282951:exon2:c.C33T:p.L11L,COPS7B:NM_001308381:exon2:c.C33T:p.L11L,COPS7B:NM_001369483:exon2:c.C33T:p.L11L,COPS7B:NM_022730:exon2:c.C33T:p.L11L",NA,NA,NA,NA,NA,NA
chr2,232660848,232660848,G,A,R010_S,COPS7B,Silent,NM_001282951,exon3,c.G195A,p.L65L,SNP,SNVindel,exonic,COPS7B,NA,synonymous SNV,"COPS7B:NM_001282951:exon3:c.G195A:p.L65L,COPS7B:NM_001282949:exon4:c.G258A:p.L86L,COPS7B:NM_001282952:exon4:c.G39A:p.L13L,COPS7B:NM_001282950:exon5:c.G360A:p.L120L,COPS7B:NM_001308381:exon5:c.G360A:p.L120L,COPS7B:NM_001369483:exon5:c.G360A:p.L120L,COPS7B:NM_022730:exon5:c.G360A:p.L120L",NA,NA,NA,NA,NA,NA
chr2,233323408,233323408,G,A,R010_S,ALPI,Missense_Mutation,NM_001631,exon10,c.G1250A,p.G417D,SNP,SNVindel,exonic,ALPI,NA,nonsynonymous SNV,ALPI:NM_001631:exon10:c.G1250A:p.G417D,D,D,D,D,D,D
chr2,233741043,233741043,C,T,R010_S,SNORC,Silent,NM_001346121,exon3,c.C376T,p.L126L,SNP,SNVindel,exonic,SNORC,NA,synonymous SNV,"SNORC:NM_001346121:exon3:c.C376T:p.L126L,SNORC:NM_001346120:exon4:c.C415T:p.L139L,SNORC:NM_001346122:exon4:c.C343T:p.L115L,SNORC:NM_206895:exon4:c.C343T:p.L115L",NA,NA,NA,NA,NA,NA
chr2,234106890,234106890,C,T,R010_S,INPP5D,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,INPP5D,NA,unknown,UNKNOWN,T,N,D,D,N,D
chr2,234371309,234371309,C,T,R010_S,DGKD,Silent,NM_003648,exon25,c.C2982T,p.V994V,SNP,SNVindel,exonic,DGKD,NA,synonymous SNV,"DGKD:NM_003648:exon25:c.C2982T:p.V994V,DGKD:NM_152879:exon26:c.C3114T:p.V1038V",NA,NA,NA,NA,NA,NA
chr2,234730810,234730810,C,T,R010_S,MROH2A,Missense_Mutation,NM_001367507,exon32,c.C3553T,p.P1185S,SNP,SNVindel,exonic,MROH2A,NA,nonsynonymous SNV,MROH2A:NM_001367507:exon32:c.C3553T:p.P1185S,T,N,N,T,N,T
chr2,234894426,234894426,C,T,R010_S,TRPM8,Silent,NM_024080,exon21,c.C2856T,p.P952P,SNP,SNVindel,exonic,TRPM8,NA,synonymous SNV,TRPM8:NM_024080:exon21:c.C2856T:p.P952P,NA,NA,NA,NA,NA,NA
chr2,238253839,238253839,C,T,R010_S,COL6A3,Silent,NM_057166,exon30,c.G5289A,p.R1763R,SNP,SNVindel,exonic,COL6A3,NA,synonymous SNV,"COL6A3:NM_057166:exon30:c.G5289A:p.R1763R,COL6A3:NM_057167:exon32:c.G6492A:p.R2164R,COL6A3:NM_004369:exon33:c.G7110A:p.R2370R",NA,NA,NA,NA,NA,NA
chr2,239053603,239053603,C,T,R010_S,KLHL30,Missense_Mutation,NM_198582,exon4,c.C968T,p.A323V,SNP,SNVindel,exonic,KLHL30,NA,nonsynonymous SNV,KLHL30:NM_198582:exon4:c.C968T:p.A323V,T,N,N,T,D,T
chr2,239059689,239059689,C,T,R010_S,KLHL30,Missense_Mutation,NM_198582,exon8,c.C1720T,p.P574S,SNP,SNVindel,exonic,KLHL30,NA,nonsynonymous SNV,KLHL30:NM_198582:exon8:c.C1720T:p.P574S,T,N,N,T,N,T
chr2,241517306,241517306,C,T,R010_S,RNPEPL1,Silent,NM_018226,exon11,c.C2175T,p.A725A,SNP,SNVindel,exonic,RNPEPL1,NA,synonymous SNV,RNPEPL1:NM_018226:exon11:c.C2175T:p.A725A,NA,NA,NA,NA,NA,NA
chr2,241685587,241685587,G,A,R010_S,KIF1A,Missense_Mutation,NM_004321,exon28,c.C2768T,p.S923F,SNP,SNVindel,exonic,KIF1A,NA,nonsynonymous SNV,"KIF1A:NM_004321:exon28:c.C2768T:p.S923F,KIF1A:NM_001320705:exon29:c.C2795T:p.S932F,KIF1A:NM_001330289:exon29:c.C2795T:p.S932F,KIF1A:NM_001330290:exon29:c.C2870T:p.S957F,KIF1A:NM_001244008:exon30:c.C3071T:p.S1024F",T,U,D,T,N,T
chr2,241710560,241710560,C,T,R010_S,KIF1A,Missense_Mutation,NM_001330290,exon15,c.G1244A,p.G415D,SNP,SNVindel,exonic,KIF1A,NA,nonsynonymous SNV,KIF1A:NM_001330290:exon15:c.G1244A:p.G415D,NA,NA,NA,NA,NA,NA
chr2,241989337,241989337,G,A,R010_S,SNED1,Silent,NM_001080437,exon12,c.G1722A,p.K574K,SNP,SNVindel,exonic,SNED1,NA,synonymous SNV,SNED1:NM_001080437:exon12:c.G1722A:p.K574K,NA,NA,NA,NA,NA,NA
chr2,242003057,242003057,C,T,R010_S,SNED1,Missense_Mutation,NM_001080437,exon18,c.C2425T,p.L809F,SNP,SNVindel,exonic,SNED1,NA,nonsynonymous SNV,SNED1:NM_001080437:exon18:c.C2425T:p.L809F,T,N,N,D,N,T
chr2,242179502,242179502,C,T,R010_S,HDLBP,Silent,NM_001243900,exon18,c.G2106A,p.K702K,SNP,SNVindel,exonic,HDLBP,NA,synonymous SNV,"HDLBP:NM_001243900:exon18:c.G2106A:p.K702K,HDLBP:NM_001320965:exon18:c.G2205A:p.K735K,HDLBP:NM_001320966:exon18:c.G2205A:p.K735K,HDLBP:NM_001320967:exon18:c.G2205A:p.K735K,HDLBP:NM_005336:exon18:c.G2205A:p.K735K,HDLBP:NM_203346:exon18:c.G2205A:p.K735K",NA,NA,NA,NA,NA,NA
chr2,242573286,242573286,C,T,R010_S,THAP4,Missense_Mutation,NM_015963,exon2,c.G286A,p.G96S,SNP,SNVindel,exonic,THAP4,NA,nonsynonymous SNV,THAP4:NM_015963:exon2:c.G286A:p.G96S,D,N,N,D,N,T
chr2,242681923,242681923,G,A,R010_S,D2HGDH,Missense_Mutation,NM_001287249,exon3,c.G22A,p.V8I,SNP,SNVindel,exonic,D2HGDH,NA,nonsynonymous SNV,"D2HGDH:NM_001287249:exon3:c.G22A:p.V8I,D2HGDH:NM_152783:exon4:c.G424A:p.V142I",T,D,D,D,N,D
chr3,403445,403445,C,T,R010_S,CHL1,Missense_Mutation,NM_001253388,exon11,c.C1370T,p.A457V,SNP,SNVindel,exonic,CHL1,NA,nonsynonymous SNV,"CHL1:NM_001253388:exon11:c.C1370T:p.A457V,CHL1:NM_001253387:exon12:c.C1322T:p.A441V,CHL1:NM_006614:exon13:c.C1370T:p.A457V",T,D,D,T,N,T
chr3,9712816,9712816,C,T,R010_S,MTMR14,Silent,NM_001077525,exon6,c.C639T,p.D213D,SNP,SNVindel,exonic,MTMR14,NA,synonymous SNV,"MTMR14:NM_001077525:exon6:c.C639T:p.D213D,MTMR14:NM_001077526:exon6:c.C639T:p.D213D,MTMR14:NM_022485:exon6:c.C639T:p.D213D",NA,NA,NA,NA,NA,NA
chr3,9730700,9730700,C,T,R010_S,MTMR14,Missense_Mutation,NM_001077525,exon16,c.C1367T,p.A456V,SNP,SNVindel,exonic,MTMR14,NA,nonsynonymous SNV,"MTMR14:NM_001077525:exon16:c.C1367T:p.A456V,MTMR14:NM_001077526:exon16:c.C1367T:p.A456V,MTMR14:NM_022485:exon16:c.C1367T:p.A456V",D,D,D,D,N,D
chr3,9792740,9792740,C,T,R010_S,OGG1,Silent,NM_001354648,exon2,c.C249T,p.S83S,SNP,SNVindel,exonic,OGG1,NA,synonymous SNV,"OGG1:NM_001354648:exon2:c.C249T:p.S83S,OGG1:NM_001354649:exon2:c.C249T:p.S83S,OGG1:NM_001354650:exon2:c.C249T:p.S83S,OGG1:NM_001354651:exon2:c.C249T:p.S83S,OGG1:NM_001354652:exon2:c.C249T:p.S83S,OGG1:NM_002542:exon2:c.C249T:p.S83S,OGG1:NM_016819:exon2:c.C249T:p.S83S,OGG1:NM_016820:exon2:c.C249T:p.S83S,OGG1:NM_016821:exon2:c.C249T:p.S83S,OGG1:NM_016826:exon2:c.C249T:p.S83S,OGG1:NM_016827:exon2:c.C249T:p.S83S,OGG1:NM_016828:exon2:c.C249T:p.S83S,OGG1:NM_016829:exon2:c.C249T:p.S83S",NA,NA,NA,NA,NA,NA
chr3,9950904,9950904,T,C,R010_S,IL17RE,Missense_Mutation,NM_153481,exon6,c.T391C,p.S131P,SNP,SNVindel,exonic,IL17RE,NA,nonsynonymous SNV,"IL17RE:NM_153481:exon6:c.T391C:p.S131P,IL17RE:NM_001193380:exon8:c.T739C:p.S247P,IL17RE:NM_153480:exon8:c.T739C:p.S247P,IL17RE:NM_153483:exon9:c.T859C:p.S287P",T,N,N,T,D,T
chr3,9959633,9959633,G,A,R010_S,IL17RC,Missense_Mutation,NM_001203263,exon3,c.G154A,p.D52N,SNP,SNVindel,exonic,IL17RC,NA,nonsynonymous SNV,"IL17RC:NM_001203263:exon3:c.G154A:p.D52N,IL17RC:NM_001203264:exon3:c.G154A:p.D52N,IL17RC:NM_001203265:exon3:c.G154A:p.D52N,IL17RC:NM_001367278:exon3:c.G154A:p.D52N,IL17RC:NM_001367279:exon3:c.G154A:p.D52N,IL17RC:NM_001367280:exon3:c.G154A:p.D52N,IL17RC:NM_032732:exon3:c.G154A:p.D52N,IL17RC:NM_153460:exon3:c.G154A:p.D52N,IL17RC:NM_153461:exon3:c.G367A:p.D123N",T,N,N,T,N,T
chr3,10971002,10971002,C,T,R010_S,SLC6A11,Silent,NM_014229,exon10,c.C1348T,p.L450L,SNP,SNVindel,exonic,SLC6A11,NA,synonymous SNV,SLC6A11:NM_014229:exon10:c.C1348T:p.L450L,NA,NA,NA,NA,NA,NA
chr3,11068017,11068017,G,A,R010_S,SLC6A1,Silent,NM_001348252,exon9,c.G516A,p.K172K,SNP,SNVindel,exonic,SLC6A1,NA,synonymous SNV,"SLC6A1:NM_001348252:exon9:c.G516A:p.K172K,SLC6A1:NM_001348253:exon9:c.G516A:p.K172K,SLC6A1:NM_001348250:exon10:c.G1050A:p.K350K,SLC6A1:NM_001348251:exon10:c.G690A:p.K230K,SLC6A1:NM_003042:exon10:c.G1050A:p.K350K",NA,NA,NA,NA,NA,NA
chr3,11301153,11301153,G,A,R010_S,HRH1,Missense_Mutation,NM_001098211,exon2,c.G430A,p.A144T,SNP,SNVindel,exonic,HRH1,NA,nonsynonymous SNV,"HRH1:NM_001098211:exon2:c.G430A:p.A144T,HRH1:NM_001098212:exon2:c.G430A:p.A144T,HRH1:NM_001098213:exon2:c.G430A:p.A144T,HRH1:NM_000861:exon3:c.G430A:p.A144T",D,D,D,T,D,T
chr3,12571280,12571280,C,T,R010_S,TSEN2,Silent,NM_001145393,exon9,c.C1078T,p.L360L,SNP,SNVindel,exonic,TSEN2,NA,synonymous SNV,"TSEN2:NM_001145393:exon9:c.C1078T:p.L360L,TSEN2:NM_001321279:exon9:c.C1078T:p.L360L,TSEN2:NM_001145392:exon10:c.C1156T:p.L386L,TSEN2:NM_001321277:exon10:c.C1156T:p.L386L,TSEN2:NM_001321278:exon10:c.C1156T:p.L386L,TSEN2:NM_025265:exon10:c.C1156T:p.L386L,TSEN2:NM_001145394:exon11:c.C979T:p.L327L",NA,NA,NA,NA,NA,NA
chr3,12942686,12942686,G,A,R010_S,IQSEC1,Silent,NM_001134382,exon15,c.C3141T,p.H1047H,SNP,SNVindel,exonic,IQSEC1,NA,synonymous SNV,IQSEC1:NM_001134382:exon15:c.C3141T:p.H1047H,NA,NA,NA,NA,NA,NA
chr3,13421156,13421156,C,T,R010_S,NUP210,Missense_Mutation,NM_024923,exon7,c.G883A,p.D295N,SNP,SNVindel,exonic,NUP210,NA,nonsynonymous SNV,NUP210:NM_024923:exon7:c.G883A:p.D295N,T,D,D,T,N,T
chr3,13441251,13441251,G,A,R010_S,NUP210,Missense_Mutation,NM_024923,exon2,c.C278T,p.T93I,SNP,SNVindel,exonic,NUP210,NA,nonsynonymous SNV,NUP210:NM_024923:exon2:c.C278T:p.T93I,D,D,D,T,D,T
chr3,13612360,13612360,C,T,R010_S,FBLN2,Missense_Mutation,NM_001004019,exon2,c.C505T,p.L169F,SNP,SNVindel,exonic,FBLN2,NA,nonsynonymous SNV,"FBLN2:NM_001004019:exon2:c.C505T:p.L169F,FBLN2:NM_001165035:exon2:c.C505T:p.L169F,FBLN2:NM_001998:exon2:c.C505T:p.L169F",D,D,D,T,N,T
chr3,14712644,14712644,C,T,R010_S,CCDC174,Silent,NM_016474,exon11,c.C1347T,p.P449P,SNP,SNVindel,exonic,CCDC174,NA,synonymous SNV,CCDC174:NM_016474:exon11:c.C1347T:p.P449P,NA,NA,NA,NA,NA,NA
chr3,14802998,14802998,C,T,R010_S,C3orf20,Missense_Mutation,NM_001184957,exon15,c.C2005T,p.L669F,SNP,SNVindel,exonic,C3orf20,NA,nonsynonymous SNV,"C3orf20:NM_001184957:exon15:c.C2005T:p.L669F,C3orf20:NM_001184958:exon15:c.C2005T:p.L669F,C3orf20:NM_032137:exon15:c.C2371T:p.L791F",D,D,D,T,N,T
chr3,15062345,15062345,G,A,R010_S,NR2C2,Silent,NM_001291694,exon5,c.G462A,p.R154R,SNP,SNVindel,exonic,NR2C2,NA,synonymous SNV,"NR2C2:NM_001291694:exon5:c.G462A:p.R154R,NR2C2:NM_003298:exon6:c.G519A:p.R173R",NA,NA,NA,NA,NA,NA
chr3,15477924,15477924,C,A,R010_S,EAF1,Missense_Mutation,NM_033083,exon5,c.C602A,p.S201Y,SNP,SNVindel,exonic,EAF1,NA,nonsynonymous SNV,EAF1:NM_033083:exon5:c.C602A:p.S201Y,D,N,D,.,D,T
chr3,15685887,15685887,C,T,R010_S,BTD,Missense_Mutation,NM_001281723,exon4,c.C464T,p.T155I,SNP,SNVindel,exonic,BTD,NA,nonsynonymous SNV,"BTD:NM_001281723:exon4:c.C464T:p.T155I,BTD:NM_001281725:exon4:c.C464T:p.T155I,BTD:NM_001370658:exon4:c.C464T:p.T155I,BTD:NM_001370752:exon4:c.C464T:p.T155I,BTD:NM_001323582:exon5:c.C464T:p.T155I,BTD:NM_001281724:exon6:c.C464T:p.T155I",D,D,D,D,D,T
chr3,15855761,15855761,C,T,R010_S,ANKRD28,Missense_Mutation,NM_001349279,exon2,c.G4A,p.G2R,SNP,SNVindel,exonic,ANKRD28,NA,nonsynonymous SNV,ANKRD28:NM_001349279:exon2:c.G4A:p.G2R,NA,NA,NA,NA,NA,NA
chr3,16261492,16261492,G,A,R010_S,GALNT15,Missense_Mutation,NM_001319052,exon3,c.G190A,p.A64T,SNP,SNVindel,exonic,GALNT15,NA,nonsynonymous SNV,"GALNT15:NM_001319052:exon3:c.G190A:p.A64T,GALNT15:NM_001319051:exon8:c.G1600A:p.A534T,GALNT15:NM_054110:exon8:c.G1600A:p.A534T",T,N,N,T,N,T
chr3,18428001,18428001,C,T,R010_S,SATB1,Missense_Mutation,NM_001322876,exon7,c.G1093A,p.E365K,SNP,SNVindel,exonic,SATB1,NA,nonsynonymous SNV,"SATB1:NM_001322876:exon7:c.G1093A:p.E365K,SATB1:NM_001131010:exon8:c.G1309A:p.E437K,SATB1:NM_001195470:exon8:c.G1309A:p.E437K,SATB1:NM_001322871:exon8:c.G1309A:p.E437K,SATB1:NM_001322873:exon8:c.G1309A:p.E437K,SATB1:NM_001322874:exon8:c.G1309A:p.E437K,SATB1:NM_001322875:exon8:c.G1309A:p.E437K,SATB1:NM_002971:exon8:c.G1309A:p.E437K,SATB1:NM_001322872:exon9:c.G1309A:p.E437K",D,D,D,T,N,T
chr3,19491662,19491662,G,A,R010_S,KCNH8,Nonsense_Mutation,NM_144633,exon9,c.G1440A,p.W480X,SNP,SNVindel,exonic,KCNH8,NA,stopgain,KCNH8:NM_144633:exon9:c.G1440A:p.W480X,.,U,A,.,.,.
chr3,19575331,19575331,C,T,R010_S,KCNH8,Missense_Mutation,NM_144633,exon16,c.C3064T,p.P1022S,SNP,SNVindel,exonic,KCNH8,NA,nonsynonymous SNV,KCNH8:NM_144633:exon16:c.C3064T:p.P1022S,D,U,D,D,N,D
chr3,19947151,19947151,G,A,R010_S,EFHB,Missense_Mutation,NM_144715,exon6,c.C1379T,p.A460V,SNP,SNVindel,exonic,EFHB,NA,nonsynonymous SNV,"EFHB:NM_144715:exon6:c.C1379T:p.A460V,EFHB:NM_001330688:exon8:c.C989T:p.A330V",T,N,N,T,N,T
chr3,25654073,25654073,C,T,R010_S,TOP2B,Missense_Mutation,NM_001068,exon28,c.G3704A,p.R1235K,SNP,SNVindel,exonic,TOP2B,NA,nonsynonymous SNV,"TOP2B:NM_001068:exon28:c.G3704A:p.R1235K,TOP2B:NM_001330700:exon28:c.G3719A:p.R1240K",T,D,D,T,N,T
chr3,30729963,30729963,G,A,R010_S,TGFBR2,Missense_Mutation,NM_003242,exon6,c.G1484A,p.R495Q,SNP,SNVindel,exonic,TGFBR2,NA,nonsynonymous SNV,"TGFBR2:NM_003242:exon6:c.G1484A:p.R495Q,TGFBR2:NM_001024847:exon7:c.G1559A:p.R520Q",D,D,D,D,D,D
chr3,32933170,32933170,G,A,R010_S,TRIM71,Missense_Mutation,NM_001039111,exon4,c.G2474A,p.G825D,SNP,SNVindel,exonic,TRIM71,NA,nonsynonymous SNV,TRIM71:NM_001039111:exon4:c.G2474A:p.G825D,T,D,D,D,D,D
chr3,33450764,33450764,C,T,R010_S,UBP1,Silent,NM_001128160,exon7,c.G783A,p.K261K,SNP,SNVindel,exonic,UBP1,NA,synonymous SNV,"UBP1:NM_001128160:exon7:c.G783A:p.K261K,UBP1:NM_014517:exon7:c.G783A:p.K261K,UBP1:NM_001128161:exon8:c.G783A:p.K261K",NA,NA,NA,NA,NA,NA
chr3,33614690,33614690,G,A,R010_S,CLASP2,Missense_Mutation,NM_001207044,exon20,c.C1975T,p.L659F,SNP,SNVindel,exonic,CLASP2,NA,nonsynonymous SNV,"CLASP2:NM_001207044:exon20:c.C1975T:p.L659F,CLASP2:NM_001365630:exon23:c.C2569T:p.L857F,CLASP2:NM_001365633:exon23:c.C2572T:p.L858F,CLASP2:NM_001365634:exon23:c.C2569T:p.L857F,CLASP2:NM_001365631:exon25:c.C2611T:p.L871F,CLASP2:NM_001365632:exon25:c.C2611T:p.L871F,CLASP2:NM_001365627:exon26:c.C2674T:p.L892F,CLASP2:NM_015097:exon26:c.C2638T:p.L880F,CLASP2:NM_001365628:exon27:c.C2701T:p.L901F,CLASP2:NM_001365629:exon27:c.C2698T:p.L900F",D,D,D,T,D,T
chr3,36873101,36873101,G,A,R010_S,TRANK1,Missense_Mutation,NM_014831,exon21,c.C7841T,p.S2614F,SNP,SNVindel,exonic,TRANK1,NA,nonsynonymous SNV,"TRANK1:NM_014831:exon21:c.C7841T:p.S2614F,TRANK1:NM_001329998:exon22:c.C7973T:p.S2658F",D,N,N,T,N,T
chr3,37337686,37337686,C,T,R010_S,GOLGA4,Missense_Mutation,NM_002078,exon7,c.C790T,p.P264S,SNP,SNVindel,exonic,GOLGA4,NA,nonsynonymous SNV,"GOLGA4:NM_002078:exon7:c.C790T:p.P264S,GOLGA4:NM_001172713:exon8:c.C856T:p.P286S",T,N,N,T,N,T
chr3,38052724,38052724,G,A,R010_S,PLCD1,Silent,NM_001130964,exon5,c.C834T,p.R278R,SNP,SNVindel,exonic,PLCD1,NA,synonymous SNV,"PLCD1:NM_001130964:exon5:c.C834T:p.R278R,PLCD1:NM_006225:exon5:c.C771T:p.R257R",NA,NA,NA,NA,NA,NA
chr3,38263167,38263167,G,A,R010_S,OXSR1,Missense_Mutation,NM_005109,exon6,c.G589A,p.V197I,SNP,SNVindel,exonic,OXSR1,NA,nonsynonymous SNV,OXSR1:NM_005109:exon6:c.G589A:p.V197I,D,D,D,T,N,T
chr3,38293845,38293845,G,A,R010_S,OXSR1,Missense_Mutation,NM_005109,exon17,c.G1471A,p.E491K,SNP,SNVindel,exonic,OXSR1,NA,nonsynonymous SNV,OXSR1:NM_005109:exon17:c.G1471A:p.E491K,T,D,D,T,N,T
chr3,38646314,38646314,C,T,R010_S,SCN5A,Missense_Mutation,NM_000335,exon11,c.G1424A,p.R475K,SNP,SNVindel,exonic,SCN5A,NA,nonsynonymous SNV,"SCN5A:NM_000335:exon11:c.G1424A:p.R475K,SCN5A:NM_001099404:exon11:c.G1424A:p.R475K,SCN5A:NM_001099405:exon11:c.G1424A:p.R475K,SCN5A:NM_001160160:exon11:c.G1424A:p.R475K,SCN5A:NM_001160161:exon11:c.G1424A:p.R475K,SCN5A:NM_001354701:exon11:c.G1424A:p.R475K,SCN5A:NM_198056:exon11:c.G1424A:p.R475K",T,N,N,D,N,T
chr3,38951575,38951575,C,T,R010_S,SCN11A,Nonsense_Mutation,NM_014139,exon8,c.G1083A,p.W361X,SNP,SNVindel,exonic,SCN11A,NA,stopgain,"SCN11A:NM_014139:exon8:c.G1083A:p.W361X,SCN11A:NM_001349253:exon12:c.G1083A:p.W361X",.,D,A,.,.,.
chr3,39226606,39226606,G,A,R010_S,XIRP1,Missense_Mutation,NM_001351377,exon2,c.C380T,p.P127L,SNP,SNVindel,exonic,XIRP1,NA,nonsynonymous SNV,"XIRP1:NM_001351377:exon2:c.C380T:p.P127L,XIRP1:NM_194293:exon2:c.C4331T:p.P1444L",T,N,N,T,N,T
chr3,40528363,40528363,C,T,R010_S,ZNF619,Missense_Mutation,NM_001145083,exon4,c.C230T,p.S77F,SNP,SNVindel,exonic,ZNF619,NA,nonsynonymous SNV,"ZNF619:NM_001145083:exon4:c.C230T:p.S77F,ZNF619:NM_001145093:exon5:c.C362T:p.S121F,ZNF619:NM_001145082:exon6:c.C482T:p.S161F,ZNF619:NM_001145094:exon6:c.C335T:p.S112F,ZNF619:NM_001363277:exon6:c.C188T:p.S63F,ZNF619:NM_173656:exon6:c.C314T:p.S105F",D,.,N,T,D,T
chr3,41266609,41266609,G,A,R010_S,CTNNB1,Missense_Mutation,NM_001098209,exon4,c.G406A,p.V136I,SNP,SNVindel,exonic,CTNNB1,NA,nonsynonymous SNV,"CTNNB1:NM_001098209:exon4:c.G406A:p.V136I,CTNNB1:NM_001098210:exon4:c.G406A:p.V136I,CTNNB1:NM_001904:exon4:c.G406A:p.V136I,CTNNB1:NM_001330729:exon5:c.G385A:p.V129I",T,D,D,T,N,T
chr3,42680847,42680847,C,T,R010_S,NKTR,Silent,NM_001349124,exon13,c.C3651T,p.S1217S,SNP,SNVindel,exonic,NKTR,NA,synonymous SNV,"NKTR:NM_001349124:exon13:c.C3651T:p.S1217S,NKTR:NM_005385:exon13:c.C3651T:p.S1217S,NKTR:NM_001349125:exon15:c.C2892T:p.S964S,NKTR:NM_001349126:exon15:c.C2547T:p.S849S",NA,NA,NA,NA,NA,NA
chr3,42680879,42680879,C,T,R010_S,NKTR,Missense_Mutation,NM_001349124,exon13,c.C3683T,p.P1228L,SNP,SNVindel,exonic,NKTR,NA,nonsynonymous SNV,"NKTR:NM_001349124:exon13:c.C3683T:p.P1228L,NKTR:NM_005385:exon13:c.C3683T:p.P1228L,NKTR:NM_001349125:exon15:c.C2924T:p.P975L,NKTR:NM_001349126:exon15:c.C2579T:p.P860L",D,D,D,D,D,D
chr3,42705904,42705904,C,T,R010_S,ZBTB47,Silent,NM_145166,exon6,c.C2058T,p.S686S,SNP,SNVindel,exonic,ZBTB47,NA,synonymous SNV,ZBTB47:NM_145166:exon6:c.C2058T:p.S686S,NA,NA,NA,NA,NA,NA
chr3,42727469,42727469,G,A,R010_S,KLHL40,Missense_Mutation,NM_152393,exon1,c.G359A,p.C120Y,SNP,SNVindel,exonic,KLHL40,NA,nonsynonymous SNV,KLHL40:NM_152393:exon1:c.G359A:p.C120Y,D,D,D,T,D,T
chr3,43074616,43074616,G,A,R010_S,GASK1A,Silent,NM_001129908,exon2,c.G861A,p.G287G,SNP,SNVindel,exonic,GASK1A,NA,synonymous SNV,GASK1A:NM_001129908:exon2:c.G861A:p.G287G,NA,NA,NA,NA,NA,NA
chr3,44611686,44611686,G,A,R010_S,ZKSCAN7,Missense_Mutation,NM_001288592,exon5,c.G631A,p.E211K,SNP,SNVindel,exonic,ZKSCAN7,NA,nonsynonymous SNV,"ZKSCAN7:NM_001288592:exon5:c.G631A:p.E211K,ZKSCAN7:NM_001288590:exon6:c.G1084A:p.E362K,ZKSCAN7:NM_018651:exon6:c.G1084A:p.E362K",T,.,N,T,N,T
chr3,44612818,44612818,G,A,R010_S,ZKSCAN7,Missense_Mutation,NM_001288590,exon6,c.G2216A,p.R739Q,SNP,SNVindel,exonic,ZKSCAN7,NA,nonsynonymous SNV,"ZKSCAN7:NM_001288590:exon6:c.G2216A:p.R739Q,ZKSCAN7:NM_018651:exon6:c.G2216A:p.R739Q",D,.,D,T,D,T
chr3,44685219,44685219,G,A,R010_S,ZNF197,Missense_Mutation,NM_001323296,exon5,c.G1958A,p.R653K,SNP,SNVindel,exonic,ZNF197;ZNF660-ZNF197,NA,nonsynonymous SNV,"ZNF197:NM_001323296:exon5:c.G1958A:p.R653K,ZNF197:NM_001323293:exon6:c.G2597A:p.R866K,ZNF197:NM_006991:exon6:c.G2597A:p.R866K,ZNF197:NM_001323295:exon7:c.G1988A:p.R663K,ZNF660-ZNF197:NM_001351732:exon7:c.G2597A:p.R866K,ZNF660-ZNF197:NM_001351733:exon7:c.G2597A:p.R866K",T,U,D,T,N,T
chr3,44700408,44700408,C,A,R010_S,ZNF35,Missense_Mutation,NM_003420,exon4,c.C553A,p.P185T,SNP,SNVindel,exonic,ZNF35,NA,nonsynonymous SNV,ZNF35:NM_003420:exon4:c.C553A:p.P185T,T,N,D,T,N,T
chr3,45518025,45518025,C,T,R010_S,LARS2,Silent,NM_001368263,exon9,c.C924T,p.G308G,SNP,SNVindel,exonic,LARS2,NA,synonymous SNV,"LARS2:NM_001368263:exon9:c.C924T:p.G308G,LARS2:NM_015340:exon10:c.C924T:p.G308G",NA,NA,NA,NA,NA,NA
chr3,45988117,45988117,G,A,R010_S,CXCR6,Silent,NM_006564,exon2,c.G144A,p.G48G,SNP,SNVindel,exonic,CXCR6,NA,synonymous SNV,CXCR6:NM_006564:exon2:c.G144A:p.G48G,NA,NA,NA,NA,NA,NA
chr3,46063339,46063339,G,A,R010_S,XCR1,Missense_Mutation,NM_001024644,exon2,c.C101T,p.T34I,SNP,SNVindel,exonic,XCR1,NA,nonsynonymous SNV,"XCR1:NM_001024644:exon2:c.C101T:p.T34I,XCR1:NM_005283:exon3:c.C101T:p.T34I",T,N,N,T,N,T
chr3,46563098,46563098,C,T,R010_S,LRRC2,Missense_Mutation,NM_024512,exon8,c.G980A,p.G327D,SNP,SNVindel,exonic,LRRC2,NA,nonsynonymous SNV,LRRC2:NM_024512:exon8:c.G980A:p.G327D,T,N,N,T,N,T
chr3,46939389,46939389,C,T,R010_S,PTH1R,Silent,NM_001184744,exon5,c.C358T,p.L120L,SNP,SNVindel,exonic,PTH1R,NA,synonymous SNV,"PTH1R:NM_001184744:exon5:c.C358T:p.L120L,PTH1R:NM_000316:exon6:c.C358T:p.L120L",NA,NA,NA,NA,NA,NA
chr3,47040213,47040213,G,A,R010_S,NBEAL2,Silent,NM_001365116,exon22,c.G3126A,p.Q1042Q,SNP,SNVindel,exonic,NBEAL2,NA,synonymous SNV,"NBEAL2:NM_001365116:exon22:c.G3126A:p.Q1042Q,NBEAL2:NM_015175:exon23:c.G3228A:p.Q1076Q",NA,NA,NA,NA,NA,NA
chr3,47282501,47282501,C,T,R010_S,KIF9,Missense_Mutation,NM_022342,exon16,c.G1519A,p.D507N,SNP,SNVindel,exonic,KIF9,NA,nonsynonymous SNV,"KIF9:NM_022342:exon16:c.G1519A:p.D507N,KIF9:NM_182902:exon17:c.G1714A:p.D572N,KIF9:NM_001134878:exon18:c.G1714A:p.D572N",T,D,N,T,N,T
chr3,47451025,47451025,C,T,R010_S,PTPN23,Missense_Mutation,NM_001304482,exon17,c.C1538T,p.A513V,SNP,SNVindel,exonic,PTPN23,NA,nonsynonymous SNV,"PTPN23:NM_001304482:exon17:c.C1538T:p.A513V,PTPN23:NM_015466:exon18:c.C1916T:p.A639V",T,N,N,T,N,T
chr3,47452775,47452775,G,A,R010_S,PTPN23,Missense_Mutation,NM_001304482,exon19,c.G3109A,p.D1037N,SNP,SNVindel,exonic,PTPN23,NA,nonsynonymous SNV,"PTPN23:NM_001304482:exon19:c.G3109A:p.D1037N,PTPN23:NM_015466:exon20:c.G3487A:p.D1163N",D,D,D,T,D,T
chr3,47454596,47454596,G,A,R010_S,PTPN23,Missense_Mutation,NM_001304482,exon24,c.G4454A,p.G1485E,SNP,SNVindel,exonic,PTPN23,NA,nonsynonymous SNV,"PTPN23:NM_001304482:exon24:c.G4454A:p.G1485E,PTPN23:NM_015466:exon25:c.G4832A:p.G1611E",D,D,D,T,D,T
chr3,47823121,47823121,C,T,R010_S,SMARCC1,Missense_Mutation,NM_003074,exon1,c.G167A,p.R56Q,SNP,SNVindel,exonic,SMARCC1,NA,nonsynonymous SNV,SMARCC1:NM_003074:exon1:c.G167A:p.R56Q,D,N,D,T,N,T
chr3,47894809,47894809,G,A,R010_S,MAP4,Missense_Mutation,NM_002375,exon18,c.C3295T,p.P1099S,SNP,SNVindel,exonic,MAP4,NA,nonsynonymous SNV,MAP4:NM_002375:exon18:c.C3295T:p.P1099S,D,.,D,T,D,T
chr3,47957576,47957576,C,T,R010_S,MAP4,Missense_Mutation,NM_001134364,exon7,c.G1741A,p.E581K,SNP,SNVindel,exonic,MAP4,NA,nonsynonymous SNV,"MAP4:NM_001134364:exon7:c.G1741A:p.E581K,MAP4:NM_002375:exon7:c.G1741A:p.E581K",T,.,N,T,N,T
chr3,48498740,48498740,G,A,R010_S,ATRIP,Silent,NM_001271023,exon5,c.G474A,p.E158E,SNP,SNVindel,exonic,ATRIP,NA,synonymous SNV,"ATRIP:NM_001271023:exon5:c.G474A:p.E158E,ATRIP:NM_032166:exon5:c.G753A:p.E251E,ATRIP:NM_130384:exon5:c.G753A:p.E251E,ATRIP:NM_001271022:exon6:c.G372A:p.E124E",NA,NA,NA,NA,NA,NA
chr3,48668524,48668524,C,T,R010_S,SLC26A6,Missense_Mutation,NM_001281733,exon7,c.G715A,p.G239S,SNP,SNVindel,exonic,SLC26A6,NA,nonsynonymous SNV,"SLC26A6:NM_001281733:exon7:c.G715A:p.G239S,SLC26A6:NM_001040454:exon8:c.G973A:p.G325S,SLC26A6:NM_001281732:exon8:c.G928A:p.G310S,SLC26A6:NM_022911:exon9:c.G1036A:p.G346S,SLC26A6:NM_134263:exon9:c.G1036A:p.G346S,SLC26A6:NM_134426:exon9:c.G1036A:p.G346S",T,.,D,D,D,D
chr3,48697629,48697629,C,T,R010_S,CELSR3,Silent,NM_001407,exon1,c.G2439A,p.V813V,SNP,SNVindel,exonic,CELSR3,NA,synonymous SNV,CELSR3:NM_001407:exon1:c.G2439A:p.V813V,NA,NA,NA,NA,NA,NA
chr3,49137845,49137845,C,T,R010_S,QARS,Silent,NM_001272073,exon12,c.G990A,p.Q330Q,SNP,SNVindel,exonic,QARS,NA,synonymous SNV,"QARS:NM_001272073:exon12:c.G990A:p.Q330Q,QARS:NM_005051:exon12:c.G1023A:p.Q341Q",NA,NA,NA,NA,NA,NA
chr3,49152788,49152788,G,A,R010_S,USP19,Missense_Mutation,NM_001351102,exon12,c.C1547T,p.S516F,SNP,SNVindel,exonic,USP19,NA,nonsynonymous SNV,"USP19:NM_001351102:exon12:c.C1547T:p.S516F,USP19:NM_001351103:exon12:c.C1592T:p.S531F,USP19:NM_001351104:exon12:c.C1598T:p.S533F,USP19:NM_001351106:exon12:c.C1592T:p.S531F,USP19:NM_001351108:exon12:c.C1553T:p.S518F,USP19:NM_006677:exon12:c.C1586T:p.S529F,USP19:NM_001199160:exon13:c.C1889T:p.S630F,USP19:NM_001199161:exon13:c.C1895T:p.S632F,USP19:NM_001199162:exon13:c.C1859T:p.S620F,USP19:NM_001351098:exon13:c.C1856T:p.S619F,USP19:NM_001351099:exon13:c.C1886T:p.S629F,USP19:NM_001351100:exon13:c.C1892T:p.S631F,USP19:NM_001351101:exon13:c.C1895T:p.S632F,USP19:NM_001351105:exon13:c.C1739T:p.S580F,USP19:NM_001351107:exon13:c.C1850T:p.S617F",D,D,D,T,D,T
chr3,49161315,49161315,C,T,R010_S,LAMB2,Missense_Mutation,NM_002292,exon24,c.G3643A,p.A1215T,SNP,SNVindel,exonic,LAMB2,NA,nonsynonymous SNV,LAMB2:NM_002292:exon24:c.G3643A:p.A1215T,D,N,D,T,D,T
chr3,49200747,49200747,C,T,R010_S,CCDC71,Missense_Mutation,NM_022903,exon2,c.G895A,p.V299M,SNP,SNVindel,exonic,CCDC71,NA,nonsynonymous SNV,CCDC71:NM_022903:exon2:c.G895A:p.V299M,D,N,D,T,N,T
chr3,49456781,49456781,G,A,R010_S,AMT,Missense_Mutation,NM_001164710,exon5,c.C476T,p.P159L,SNP,SNVindel,exonic,AMT,NA,nonsynonymous SNV,"AMT:NM_001164710:exon5:c.C476T:p.P159L,AMT:NM_001164711:exon5:c.C440T:p.P147L,AMT:NM_000481:exon6:c.C608T:p.P203L,AMT:NM_001164712:exon6:c.C608T:p.P203L",T,D,D,D,D,T
chr3,49690910,49690910,C,T,R010_S,BSN,Silent,NM_003458,exon5,c.C3921T,p.P1307P,SNP,SNVindel,exonic,BSN,NA,synonymous SNV,BSN:NM_003458:exon5:c.C3921T:p.P1307P,NA,NA,NA,NA,NA,NA
chr3,49695494,49695494,C,T,R010_S,BSN,Silent,NM_003458,exon5,c.C8505T,p.R2835R,SNP,SNVindel,exonic,BSN,NA,synonymous SNV,BSN:NM_003458:exon5:c.C8505T:p.R2835R,NA,NA,NA,NA,NA,NA
chr3,49756560,49756560,C,A,R010_S,AMIGO3,Silent,NM_198722,exon1,c.G339T,p.L113L,SNP,SNVindel,exonic,AMIGO3,NA,synonymous SNV,AMIGO3:NM_198722:exon1:c.G339T:p.L113L,NA,NA,NA,NA,NA,NA
chr3,49759518,49759518,G,A,R010_S,GMPPB,Silent,NM_013334,exon8,c.C831T,p.G277G,SNP,SNVindel,exonic,GMPPB,NA,synonymous SNV,"GMPPB:NM_013334:exon8:c.C831T:p.G277G,GMPPB:NM_021971:exon8:c.C831T:p.G277G",NA,NA,NA,NA,NA,NA
chr3,50332442,50332442,C,T,R010_S,HYAL3,Missense_Mutation,NM_001200029,exon2,c.G592A,p.G198S,SNP,SNVindel,exonic,HYAL3,NA,nonsynonymous SNV,"HYAL3:NM_001200029:exon2:c.G592A:p.G198S,HYAL3:NM_001200030:exon2:c.G592A:p.G198S,HYAL3:NM_003549:exon2:c.G592A:p.G198S",D,U,D,T,D,D
chr3,50339855,50339855,G,A,R010_S,HYAL1,Missense_Mutation,NM_033159,exon2,c.C533T,p.A178V,SNP,SNVindel,exonic,HYAL1,NA,nonsynonymous SNV,"HYAL1:NM_033159:exon2:c.C533T:p.A178V,HYAL1:NM_153282:exon2:c.C533T:p.A178V,HYAL1:NM_153281:exon4:c.C533T:p.A178V",D,D,D,T,D,T
chr3,50368048,50368048,C,T,R010_S,RASSF1,Silent,NM_001206957,exon5,c.G534A,p.K178K,SNP,SNVindel,exonic,RASSF1,NA,synonymous SNV,"RASSF1:NM_001206957:exon5:c.G534A:p.K178K,RASSF1:NM_170713:exon5:c.G777A:p.K259K,RASSF1:NM_007182:exon6:c.G987A:p.K329K,RASSF1:NM_170712:exon6:c.G534A:p.K178K,RASSF1:NM_170714:exon6:c.G999A:p.K333K",NA,NA,NA,NA,NA,NA
chr3,51431358,51431358,G,A,R010_S,RBM15B,Missense_Mutation,NM_013286,exon1,c.G2528A,p.G843E,SNP,SNVindel,exonic,RBM15B,NA,nonsynonymous SNV,RBM15B:NM_013286:exon1:c.G2528A:p.G843E,T,.,D,T,D,T
chr3,51671302,51671302,G,A,R010_S,RAD54L2,Missense_Mutation,NM_001322256,exon10,c.G1465A,p.V489M,SNP,SNVindel,exonic,RAD54L2,NA,nonsynonymous SNV,"RAD54L2:NM_001322256:exon10:c.G1465A:p.V489M,RAD54L2:NM_001322257:exon10:c.G238A:p.V80M,RAD54L2:NM_015106:exon11:c.G1465A:p.V489M,RAD54L2:NM_001322253:exon12:c.G1465A:p.V489M",D,D,D,D,D,D
chr3,51990039,51990039,G,A,R010_S,GPR62,Missense_Mutation,NM_080865,exon1,c.G371A,p.G124D,SNP,SNVindel,exonic,GPR62,NA,nonsynonymous SNV,GPR62:NM_080865:exon1:c.G371A:p.G124D,T,U,N,T,N,T
chr3,51990069,51990069,C,T,R010_S,GPR62,Missense_Mutation,NM_080865,exon1,c.C401T,p.T134I,SNP,SNVindel,exonic,GPR62,NA,nonsynonymous SNV,GPR62:NM_080865:exon1:c.C401T:p.T134I,T,U,N,T,N,T
chr3,52012369,52012369,G,A,R010_S,ABHD14A,Missense_Mutation,NM_015407,exon3,c.G376A,p.A126T,SNP,SNVindel,exonic,ABHD14A;ABHD14A-ACY1,NA,nonsynonymous SNV,ABHD14A:NM_015407:exon3:c.G376A:p.A126T,D,D,D,T,D,T
chr3,52257480,52257480,G,A,R010_S,TLR9,Silent,NM_017442,exon2,c.C852T,p.S284S,SNP,SNVindel,exonic,TLR9,NA,synonymous SNV,TLR9:NM_017442:exon2:c.C852T:p.S284S,NA,NA,NA,NA,NA,NA
chr3,52420701,52420701,C,T,R010_S,DNAH1,Silent,NM_015512,exon56,c.C8835T,p.P2945P,SNP,SNVindel,exonic,DNAH1,NA,synonymous SNV,DNAH1:NM_015512:exon56:c.C8835T:p.P2945P,NA,NA,NA,NA,NA,NA
chr3,52513765,52513765,G,A,R010_S,NISCH,Missense_Mutation,NM_001276293,exon12,c.G1303A,p.V435I,SNP,SNVindel,exonic,NISCH,NA,nonsynonymous SNV,"NISCH:NM_001276293:exon12:c.G1303A:p.V435I,NISCH:NM_001276294:exon12:c.G1303A:p.V435I,NISCH:NM_007184:exon12:c.G1303A:p.V435I",T,N,D,T,N,T
chr3,52522027,52522027,C,T,R010_S,NISCH,Missense_Mutation,NM_007184,exon16,c.C2519T,p.T840I,SNP,SNVindel,exonic,NISCH,NA,nonsynonymous SNV,NISCH:NM_007184:exon16:c.C2519T:p.T840I,D,N,N,T,N,T
chr3,52525378,52525378,G,A,R010_S,NISCH,Silent,NM_007184,exon20,c.G3753A,p.P1251P,SNP,SNVindel,exonic,NISCH,NA,synonymous SNV,NISCH:NM_007184:exon20:c.G3753A:p.P1251P,NA,NA,NA,NA,NA,NA
chr3,52529478,52529478,C,T,R010_S,STAB1,Silent,NM_015136,exon1,c.C49T,p.L17L,SNP,SNVindel,exonic,STAB1,NA,synonymous SNV,STAB1:NM_015136:exon1:c.C49T:p.L17L,NA,NA,NA,NA,NA,NA
chr3,52541652,52541652,C,T,R010_S,STAB1,Silent,NM_015136,exon19,c.C2013T,p.A671A,SNP,SNVindel,exonic,STAB1,NA,synonymous SNV,STAB1:NM_015136:exon19:c.C2013T:p.A671A,NA,NA,NA,NA,NA,NA
chr3,52582245,52582245,C,T,R010_S,PBRM1,Missense_Mutation,NM_001350075,exon30,c.G4739A,p.R1580K,SNP,SNVindel,exonic,PBRM1,NA,nonsynonymous SNV,"PBRM1:NM_001350075:exon30:c.G4739A:p.R1580K,PBRM1:NM_001366072:exon30:c.G4646A:p.R1549K,PBRM1:NM_001366073:exon30:c.G4637A:p.R1546K,PBRM1:NM_001366076:exon30:c.G4586A:p.R1529K,PBRM1:NM_018313:exon30:c.G4583A:p.R1528K,PBRM1:NM_181042:exon30:c.G4583A:p.R1528K,PBRM1:NM_001350079:exon31:c.G4571A:p.R1524K,PBRM1:NM_001366070:exon31:c.G4691A:p.R1564K,PBRM1:NM_001366071:exon31:c.G4811A:p.R1604K,PBRM1:NM_001366074:exon31:c.G4634A:p.R1545K,PBRM1:NM_001366075:exon31:c.G4616A:p.R1539K,PBRM1:NM_001350074:exon32:c.G4691A:p.R1564K,PBRM1:NM_001350076:exon32:c.G4688A:p.R1563K,PBRM1:NM_001350078:exon32:c.G4691A:p.R1564K,PBRM1:NM_001350077:exon33:c.G4682A:p.R1561K",T,D,D,T,N,T
chr3,52864585,52864585,G,A,R010_S,ITIH4,Missense_Mutation,NM_001166449,exon1,c.C74T,p.T25I,SNP,SNVindel,exonic,ITIH4,NA,nonsynonymous SNV,"ITIH4:NM_001166449:exon1:c.C74T:p.T25I,ITIH4:NM_002218:exon1:c.C74T:p.T25I",T,N,N,T,N,T
chr3,53215718,53215718,G,A,R010_S,PRKCD,Missense_Mutation,NM_001354676,exon6,c.G598A,p.G200S,SNP,SNVindel,exonic,PRKCD,NA,nonsynonymous SNV,"PRKCD:NM_001354676:exon6:c.G598A:p.G200S,PRKCD:NM_001354678:exon6:c.G589A:p.G197S,PRKCD:NM_212539:exon6:c.G541A:p.G181S,PRKCD:NM_001316327:exon7:c.G541A:p.G181S,PRKCD:NM_001354679:exon7:c.G541A:p.G181S,PRKCD:NM_006254:exon7:c.G541A:p.G181S,PRKCD:NM_001354680:exon8:c.G541A:p.G181S",D,D,D,D,D,D
chr3,56707610,56707610,C,T,R010_S,TASOR,Missense_Mutation,NM_001112736,exon2,c.G475A,p.E159K,SNP,SNVindel,exonic,TASOR,NA,nonsynonymous SNV,"TASOR:NM_001112736:exon2:c.G475A:p.E159K,TASOR:NM_001363940:exon2:c.G475A:p.E159K,TASOR:NM_001365635:exon2:c.G475A:p.E159K,TASOR:NM_001365636:exon2:c.G475A:p.E159K,TASOR:NM_001365637:exon2:c.G475A:p.E159K,TASOR:NM_001365638:exon2:c.G475A:p.E159K",D,.,D,T,N,T
chr3,57272108,57272108,C,T,R010_S,APPL1,Silent,NM_012096,exon4,c.C249T,p.S83S,SNP,SNVindel,exonic,APPL1,NA,synonymous SNV,APPL1:NM_012096:exon4:c.C249T:p.S83S,NA,NA,NA,NA,NA,NA
chr3,57431859,57431859,C,T,R010_S,DNAH12,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,DNAH12,NA,unknown,UNKNOWN,T,.,N,T,N,T
chr3,57469192,57469192,G,A,R010_S,DNAH12,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,DNAH12,NA,unknown,UNKNOWN,D,D,D,T,D,T
chr3,57543370,57543370,C,T,R010_S,PDE12,Missense_Mutation,NM_001322176,exon1,c.C1264T,p.P422S,SNP,SNVindel,exonic,PDE12,NA,nonsynonymous SNV,"PDE12:NM_001322176:exon1:c.C1264T:p.P422S,PDE12:NM_001322177:exon1:c.C1264T:p.P422S,PDE12:NM_177966:exon1:c.C1264T:p.P422S",T,N,D,T,N,T
chr3,58127618,58127618,G,A,R010_S,FLNB,Missense_Mutation,NM_001164318,exon30,c.G5143A,p.A1715T,SNP,SNVindel,exonic,FLNB,NA,nonsynonymous SNV,"FLNB:NM_001164318:exon30:c.G5143A:p.A1715T,FLNB:NM_001457:exon30:c.G5143A:p.A1715T,FLNB:NM_001164317:exon31:c.G5236A:p.A1746T",T,N,D,D,N,T
chr3,58127636,58127636,C,T,R010_S,FLNB,Missense_Mutation,NM_001457,exon30,c.C5161T,p.P1721S,SNP,SNVindel,exonic,FLNB,NA,nonsynonymous SNV,"FLNB:NM_001457:exon30:c.C5161T:p.P1721S,FLNB:NM_001164317:exon31:c.C5254T:p.P1752S",T,N,D,D,N,T
chr3,58318728,58318728,G,A,R010_S,PXK,Missense_Mutation,NM_001289095,exon1,c.G13A,p.E5K,SNP,SNVindel,exonic,PXK,NA,nonsynonymous SNV,"PXK:NM_001289095:exon1:c.G13A:p.E5K,PXK:NM_001289096:exon1:c.G13A:p.E5K,PXK:NM_001289098:exon1:c.G13A:p.E5K,PXK:NM_001289100:exon1:c.G13A:p.E5K,PXK:NM_001349488:exon1:c.G13A:p.E5K,PXK:NM_001349490:exon1:c.G13A:p.E5K,PXK:NM_001349492:exon1:c.G13A:p.E5K,PXK:NM_001349493:exon1:c.G13A:p.E5K,PXK:NM_001349494:exon1:c.G13A:p.E5K,PXK:NM_001349495:exon1:c.G13A:p.E5K,PXK:NM_001349496:exon1:c.G13A:p.E5K,PXK:NM_001349497:exon1:c.G13A:p.E5K,PXK:NM_001349499:exon1:c.G13A:p.E5K,PXK:NM_001349500:exon1:c.G13A:p.E5K,PXK:NM_001349501:exon1:c.G13A:p.E5K,PXK:NM_001349502:exon1:c.G13A:p.E5K,PXK:NM_001349503:exon1:c.G13A:p.E5K,PXK:NM_001349504:exon1:c.G13A:p.E5K,PXK:NM_001349506:exon1:c.G13A:p.E5K,PXK:NM_001349507:exon1:c.G13A:p.E5K,PXK:NM_001349508:exon1:c.G13A:p.E5K,PXK:NM_001349509:exon1:c.G13A:p.E5K,PXK:NM_001349510:exon1:c.G13A:p.E5K,PXK:NM_001349511:exon1:c.G13A:p.E5K,PXK:NM_001349512:exon1:c.G13A:p.E5K,PXK:NM_001349514:exon1:c.G13A:p.E5K,PXK:NM_001349515:exon1:c.G13A:p.E5K,PXK:NM_001349516:exon1:c.G13A:p.E5K,PXK:NM_001349517:exon1:c.G13A:p.E5K,PXK:NM_001349518:exon1:c.G13A:p.E5K,PXK:NM_001349519:exon1:c.G13A:p.E5K,PXK:NM_001349520:exon1:c.G13A:p.E5K,PXK:NM_001349522:exon1:c.G13A:p.E5K,PXK:NM_001349524:exon1:c.G13A:p.E5K,PXK:NM_001349527:exon1:c.G13A:p.E5K,PXK:NM_017771:exon1:c.G13A:p.E5K",D,D,D,T,N,T
chr3,58385104,58385104,C,T,R010_S,PXK,Missense_Mutation,NM_001289101,exon9,c.C770T,p.P257L,SNP,SNVindel,exonic,PXK,NA,nonsynonymous SNV,"PXK:NM_001289101:exon9:c.C770T:p.P257L,PXK:NM_001349525:exon9:c.C770T:p.P257L,PXK:NM_001349526:exon9:c.C770T:p.P257L,PXK:NM_001349532:exon9:c.C770T:p.P257L,PXK:NM_001349533:exon9:c.C770T:p.P257L,PXK:NM_001349534:exon9:c.C770T:p.P257L,PXK:NM_001349535:exon9:c.C770T:p.P257L,PXK:NM_001349536:exon9:c.C770T:p.P257L,PXK:NM_001349537:exon9:c.C770T:p.P257L,PXK:NM_001349538:exon9:c.C770T:p.P257L,PXK:NM_001349539:exon9:c.C770T:p.P257L,PXK:NM_001349540:exon9:c.C770T:p.P257L,PXK:NM_001289096:exon10:c.C1082T:p.P361L,PXK:NM_001289100:exon10:c.C1082T:p.P361L,PXK:NM_001349490:exon10:c.C1082T:p.P361L,PXK:NM_001349500:exon10:c.C1082T:p.P361L,PXK:NM_001349522:exon10:c.C1082T:p.P361L,PXK:NM_001349524:exon10:c.C1082T:p.P361L,PXK:NM_001289095:exon11:c.C1130T:p.P377L,PXK:NM_001349491:exon11:c.C770T:p.P257L,PXK:NM_001349494:exon11:c.C1133T:p.P378L,PXK:NM_001349495:exon11:c.C1133T:p.P378L,PXK:NM_001349496:exon11:c.C1130T:p.P377L,PXK:NM_001349497:exon11:c.C1130T:p.P377L,PXK:NM_001349501:exon11:c.C1133T:p.P378L,PXK:NM_001349502:exon11:c.C1130T:p.P377L,PXK:NM_001349510:exon11:c.C1133T:p.P378L,PXK:NM_001349511:exon11:c.C1133T:p.P378L,PXK:NM_001349512:exon11:c.C1133T:p.P378L,PXK:NM_001349514:exon11:c.C1130T:p.P377L,PXK:NM_001349515:exon11:c.C1130T:p.P377L,PXK:NM_001349516:exon11:c.C1133T:p.P378L,PXK:NM_001349517:exon11:c.C1130T:p.P377L,PXK:NM_001349518:exon11:c.C1130T:p.P377L,PXK:NM_001289098:exon12:c.C1181T:p.P394L,PXK:NM_001289099:exon12:c.C932T:p.P311L,PXK:NM_001349488:exon12:c.C1181T:p.P394L,PXK:NM_001349492:exon12:c.C1181T:p.P394L,PXK:NM_001349493:exon12:c.C1181T:p.P394L,PXK:NM_001349498:exon12:c.C1121T:p.P374L,PXK:NM_001349499:exon12:c.C1181T:p.P394L,PXK:NM_001349503:exon12:c.C1181T:p.P394L,PXK:NM_001349504:exon12:c.C1181T:p.P394L,PXK:NM_001349506:exon12:c.C1181T:p.P394L,PXK:NM_001349507:exon12:c.C1181T:p.P394L,PXK:NM_001349508:exon12:c.C1181T:p.P394L,PXK:NM_001349509:exon12:c.C1181T:p.P394L,PXK:NM_001349519:exon12:c.C1181T:p.P394L,PXK:NM_001349520:exon12:c.C1181T:p.P394L,PXK:NM_001349527:exon12:c.C1181T:p.P394L,PXK:NM_017771:exon12:c.C1181T:p.P394L,PXK:NM_001349489:exon13:c.C932T:p.P311L,PXK:NM_001349513:exon13:c.C932T:p.P311L,PXK:NM_001349521:exon13:c.C932T:p.P311L,PXK:NM_001349528:exon13:c.C932T:p.P311L,PXK:NM_001349529:exon13:c.C932T:p.P311L,PXK:NM_001349530:exon13:c.C932T:p.P311L,PXK:NM_001349531:exon13:c.C932T:p.P311L",D,D,D,T,D,T
chr3,62358179,62358179,C,T,R010_S,FEZF2,Missense_Mutation,NM_018008,exon2,c.G365A,p.G122D,SNP,SNVindel,exonic,FEZF2,NA,nonsynonymous SNV,FEZF2:NM_018008:exon2:c.G365A:p.G122D,T,D,D,T,N,T
chr3,64644231,64644231,C,T,R010_S,ADAMTS9,Missense_Mutation,NM_001318781,exon4,c.G916A,p.V306I,SNP,SNVindel,exonic,ADAMTS9,NA,nonsynonymous SNV,"ADAMTS9:NM_001318781:exon4:c.G916A:p.V306I,ADAMTS9:NM_182920:exon4:c.G916A:p.V306I",D,N,D,T,N,T
chr3,65361483,65361483,C,T,R010_S,MAGI1,Missense_Mutation,NM_001033057,exon18,c.G3133A,p.D1045N,SNP,SNVindel,exonic,MAGI1,NA,nonsynonymous SNV,"MAGI1:NM_001033057:exon18:c.G3133A:p.D1045N,MAGI1:NM_001365903:exon19:c.G3223A:p.D1075N,MAGI1:NM_001365904:exon19:c.G3220A:p.D1074N,MAGI1:NM_001365905:exon19:c.G3223A:p.D1075N,MAGI1:NM_004742:exon19:c.G3220A:p.D1074N,MAGI1:NM_015520:exon19:c.G3217A:p.D1073N",T,D,D,T,D,T
chr3,69928500,69928500,C,T,R010_S,MITF,Missense_Mutation,NM_001184967,exon2,c.C164T,p.P55L,SNP,SNVindel,exonic,MITF,NA,nonsynonymous SNV,"MITF:NM_001184967:exon2:c.C164T:p.P55L,MITF:NM_001354604:exon2:c.C320T:p.P107L,MITF:NM_001354605:exon2:c.C317T:p.P106L,MITF:NM_001354606:exon2:c.C317T:p.P106L,MITF:NM_006722:exon2:c.C317T:p.P106L,MITF:NM_198159:exon2:c.C320T:p.P107L,MITF:NM_198177:exon2:c.C272T:p.P91L,MITF:NM_001354607:exon3:c.C269T:p.P90L,MITF:NM_001354608:exon3:c.C164T:p.P55L",T,D,D,T,D,T
chr3,73432699,73432699,C,T,R010_S,PDZRN3,Silent,NM_001303139,exon8,c.G2112A,p.Q704Q,SNP,SNVindel,exonic,PDZRN3,NA,synonymous SNV,"PDZRN3:NM_001303139:exon8:c.G2112A:p.Q704Q,PDZRN3:NM_001303140:exon8:c.G1989A:p.Q663Q,PDZRN3:NM_001303141:exon8:c.G2184A:p.Q728Q,PDZRN3:NM_001303142:exon8:c.G2169A:p.Q723Q,PDZRN3:NM_015009:exon10:c.G3018A:p.Q1006Q",NA,NA,NA,NA,NA,NA
chr3,74418484,74418484,G,A,R010_S,CNTN3,Missense_Mutation,NM_020872,exon7,c.C802T,p.P268S,SNP,SNVindel,exonic,CNTN3,NA,nonsynonymous SNV,CNTN3:NM_020872:exon7:c.C802T:p.P268S,T,D,D,T,D,T
chr3,81695559,81695559,A,C,R010_S,GBE1,Missense_Mutation,NM_000158,exon6,c.T766G,p.F256V,SNP,SNVindel,exonic,GBE1,NA,nonsynonymous SNV,GBE1:NM_000158:exon6:c.T766G:p.F256V,D,D,D,D,D,D
chr3,97311481,97311481,G,A,R010_S,EPHA6,Silent,NM_001278300,exon9,c.G588A,p.E196E,SNP,SNVindel,exonic,EPHA6,NA,synonymous SNV,"EPHA6:NM_001278300:exon9:c.G588A:p.E196E,EPHA6:NM_173655:exon10:c.G588A:p.E196E,EPHA6:NM_001080448:exon12:c.G2412A:p.E804E",NA,NA,NA,NA,NA,NA
chr3,98309563,98309563,C,T,R010_S,CPOX,Missense_Mutation,NM_000097,exon3,c.G724A,p.G242S,SNP,SNVindel,exonic,CPOX,NA,nonsynonymous SNV,CPOX:NM_000097:exon3:c.G724A:p.G242S,D,D,D,D,D,D
chr3,98312088,98312088,C,T,R010_S,CPOX,Silent,NM_000097,exon1,c.G261A,p.G87G,SNP,SNVindel,exonic,CPOX,NA,synonymous SNV,CPOX:NM_000097:exon1:c.G261A:p.G87G,NA,NA,NA,NA,NA,NA
chr3,100962780,100962780,C,T,R010_S,IMPG2,Missense_Mutation,NM_016247,exon13,c.G2395A,p.A799T,SNP,SNVindel,exonic,IMPG2,NA,nonsynonymous SNV,IMPG2:NM_016247:exon13:c.G2395A:p.A799T,D,N,N,T,N,T
chr3,101572087,101572087,G,A,R010_S,NFKBIZ,Nonsense_Mutation,NM_031419,exon5,c.G717A,p.W239X,SNP,SNVindel,exonic,NFKBIZ,NA,stopgain,"NFKBIZ:NM_031419:exon5:c.G717A:p.W239X,NFKBIZ:NM_001005474:exon6:c.G417A:p.W139X",.,D,A,.,.,.
chr3,102189257,102189257,G,A,R010_S,ZPLD1,Missense_Mutation,NM_175056,exon9,c.G1001A,p.R334K,SNP,SNVindel,exonic,ZPLD1,NA,nonsynonymous SNV,"ZPLD1:NM_175056:exon9:c.G1001A:p.R334K,ZPLD1:NM_001329788:exon10:c.G953A:p.R318K",T,N,D,D,N,T
chr3,107519972,107519972,G,A,R010_S,BBX,Missense_Mutation,NM_001276286,exon16,c.G1573A,p.V525I,SNP,SNVindel,exonic,BBX,NA,nonsynonymous SNV,"BBX:NM_001276286:exon16:c.G1573A:p.V525I,BBX:NM_020235:exon16:c.G2492A:p.S831N,BBX:NM_001142568:exon17:c.G2582A:p.S861N",T,N,N,T,N,D
chr3,109023439,109023439,C,T,R010_S,DPPA2,Missense_Mutation,NM_138815,exon7,c.G737A,p.G246D,SNP,SNVindel,exonic,DPPA2,NA,nonsynonymous SNV,DPPA2:NM_138815:exon7:c.G737A:p.G246D,D,D,N,T,D,T
chr3,111313017,111313017,C,T,R010_S,ZBED2,Missense_Mutation,NM_024508,exon2,c.G32A,p.G11E,SNP,SNVindel,exonic,ZBED2,NA,nonsynonymous SNV,ZBED2:NM_024508:exon2:c.G32A:p.G11E,T,.,N,.,N,T
chr3,111918222,111918222,C,T,R010_S,SLC9C1,Silent,NM_001320531,exon19,c.G2325A,p.K775K,SNP,SNVindel,exonic,SLC9C1,NA,synonymous SNV,"SLC9C1:NM_001320531:exon19:c.G2325A:p.K775K,SLC9C1:NM_183061:exon20:c.G2469A:p.K823K",NA,NA,NA,NA,NA,NA
chr3,112356903,112356903,C,T,R010_S,CCDC80,Missense_Mutation,NM_199511,exon2,c.G1850A,p.G617E,SNP,SNVindel,exonic,CCDC80,NA,nonsynonymous SNV,"CCDC80:NM_199511:exon2:c.G1850A:p.G617E,CCDC80:NM_199512:exon2:c.G1850A:p.G617E",T,D,N,T,N,T
chr3,112357705,112357705,C,T,R010_S,CCDC80,Missense_Mutation,NM_199511,exon2,c.G1048A,p.A350T,SNP,SNVindel,exonic,CCDC80,NA,nonsynonymous SNV,"CCDC80:NM_199511:exon2:c.G1048A:p.A350T,CCDC80:NM_199512:exon2:c.G1048A:p.A350T",T,N,D,T,N,T
chr3,112727024,112727024,C,T,R010_S,NEPRO,Missense_Mutation,NM_001319110,exon5,c.G728A,p.G243D,SNP,SNVindel,exonic,NEPRO,NA,nonsynonymous SNV,"NEPRO:NM_001319110:exon5:c.G728A:p.G243D,NEPRO:NM_001319109:exon6:c.G1019A:p.G340D,NEPRO:NM_001319111:exon7:c.G620A:p.G207D,NEPRO:NM_001319112:exon7:c.G896A:p.G299D,NEPRO:NM_001319114:exon7:c.G821A:p.G274D,NEPRO:NM_001319115:exon7:c.G938A:p.G313D,NEPRO:NM_015412:exon8:c.G1229A:p.G410D",D,D,D,T,D,T
chr3,113022796,113022796,G,A,R010_S,CFAP44,Nonsense_Mutation,NM_001164496,exon32,c.C5044T,p.R1682X,SNP,SNVindel,exonic,CFAP44,NA,stopgain,CFAP44:NM_001164496:exon32:c.C5044T:p.R1682X,.,N,A,.,.,.
chr3,113440778,113440778,G,A,R010_S,NAA50,Silent,NM_001308445,exon5,c.C336T,p.V112V,SNP,SNVindel,exonic,NAA50,NA,synonymous SNV,"NAA50:NM_001308445:exon5:c.C336T:p.V112V,NAA50:NM_025146:exon5:c.C339T:p.V113V",NA,NA,NA,NA,NA,NA
chr3,119133478,119133478,G,A,R010_S,ARHGAP31,Missense_Mutation,NM_020754,exon12,c.G2702A,p.G901D,SNP,SNVindel,exonic,ARHGAP31,NA,nonsynonymous SNV,ARHGAP31:NM_020754:exon12:c.G2702A:p.G901D,D,N,D,T,N,T
chr3,120957951,120957951,G,A,R010_S,STXBP5L,Missense_Mutation,NM_001308330,exon13,c.G1318A,p.G440R,SNP,SNVindel,exonic,STXBP5L,NA,nonsynonymous SNV,"STXBP5L:NM_001308330:exon13:c.G1318A:p.G440R,STXBP5L:NM_001348343:exon13:c.G1318A:p.G440R,STXBP5L:NM_001348344:exon13:c.G1318A:p.G440R,STXBP5L:NM_001348345:exon13:c.G1318A:p.G440R,STXBP5L:NM_014980:exon13:c.G1318A:p.G440R",D,D,D,T,D,T
chr3,121256007,121256007,C,T,R010_S,POLQ,Missense_Mutation,NM_199420,exon5,c.G680A,p.G227E,SNP,SNVindel,exonic,POLQ,NA,nonsynonymous SNV,POLQ:NM_199420:exon5:c.G680A:p.G227E,D,D,D,T,D,T
chr3,121376150,121376150,C,T,R010_S,HCLS1,Missense_Mutation,NM_001292041,exon3,c.G134A,p.G45E,SNP,SNVindel,exonic,HCLS1,NA,nonsynonymous SNV,"HCLS1:NM_001292041:exon3:c.G134A:p.G45E,HCLS1:NM_005335:exon3:c.G134A:p.G45E",D,D,D,T,D,T
chr3,121575991,121575991,G,A,R010_S,EAF2,Missense_Mutation,NM_001320041,exon3,c.G82A,p.D28N,SNP,SNVindel,exonic,EAF2,NA,nonsynonymous SNV,"EAF2:NM_001320041:exon3:c.G82A:p.D28N,EAF2:NM_018456:exon4:c.G472A:p.D158N",D,D,D,.,N,T
chr3,121591614,121591614,G,T,R010_S,EAF2,Missense_Mutation,NM_001320041,exon4,c.G325T,p.G109C,SNP,SNVindel,exonic,EAF2,NA,nonsynonymous SNV,"EAF2:NM_001320041:exon4:c.G325T:p.G109C,EAF2:NM_018456:exon5:c.G715T:p.G239C",D,N,D,.,D,T
chr3,121605189,121605189,G,A,R010_S,EAF2,Missense_Mutation,NM_001320041,exon5,c.G347A,p.R116K,SNP,SNVindel,exonic,EAF2,NA,nonsynonymous SNV,"EAF2:NM_001320041:exon5:c.G347A:p.R116K,EAF2:NM_018456:exon6:c.G737A:p.R246K",T,U,D,.,N,T
chr3,121980826,121980826,G,A,R010_S,CASR,Missense_Mutation,NM_000388,exon4,c.G944A,p.G315D,SNP,SNVindel,exonic,CASR,NA,nonsynonymous SNV,"CASR:NM_000388:exon4:c.G944A:p.G315D,CASR:NM_001178065:exon4:c.G944A:p.G315D",D,D,D,D,D,D
chr3,122003230,122003230,G,A,R010_S,CASR,Missense_Mutation,NM_000388,exon7,c.G2429A,p.S810N,SNP,SNVindel,exonic,CASR,NA,nonsynonymous SNV,"CASR:NM_000388:exon7:c.G2429A:p.S810N,CASR:NM_001178065:exon7:c.G2459A:p.S820N",D,D,D,D,N,D
chr3,122133745,122133745,G,A,R010_S,WDR5B,Missense_Mutation,NM_019069,exon1,c.C631T,p.P211S,SNP,SNVindel,exonic,WDR5B,NA,nonsynonymous SNV,WDR5B:NM_019069:exon1:c.C631T:p.P211S,T,D,D,T,D,T
chr3,122422638,122422638,G,A,R010_S,PARP14,Missense_Mutation,NM_017554,exon7,c.G3131A,p.G1044E,SNP,SNVindel,exonic,PARP14,NA,nonsynonymous SNV,PARP14:NM_017554:exon7:c.G3131A:p.G1044E,D,D,D,T,D,T
chr3,123166587,123166587,G,A,R010_S,ADCY5,Missense_Mutation,NM_183357,exon1,c.C806T,p.P269L,SNP,SNVindel,exonic,ADCY5,NA,nonsynonymous SNV,ADCY5:NM_183357:exon1:c.C806T:p.P269L,T,N,D,T,N,T
chr3,123167120,123167120,C,T,R010_S,ADCY5,Silent,NM_183357,exon1,c.G273A,p.G91G,SNP,SNVindel,exonic,ADCY5,NA,synonymous SNV,ADCY5:NM_183357:exon1:c.G273A:p.G91G,NA,NA,NA,NA,NA,NA
chr3,123419566,123419566,C,T,R010_S,MYLK,Missense_Mutation,NM_001321309,exon17,c.G2221A,p.E741K,SNP,SNVindel,exonic,MYLK,NA,nonsynonymous SNV,"MYLK:NM_001321309:exon17:c.G2221A:p.E741K,MYLK:NM_053026:exon17:c.G2542A:p.E848K,MYLK:NM_053028:exon17:c.G2542A:p.E848K,MYLK:NM_053025:exon18:c.G2749A:p.E917K,MYLK:NM_053027:exon18:c.G2749A:p.E917K",D,.,D,T,N,T
chr3,123667923,123667923,C,T,R010_S,CCDC14,Missense_Mutation,NM_001366339,exon3,c.G70A,p.D24N,SNP,SNVindel,exonic,CCDC14,NA,nonsynonymous SNV,"CCDC14:NM_001366339:exon3:c.G70A:p.D24N,CCDC14:NM_022757:exon5:c.G286A:p.D96N,CCDC14:NM_001366335:exon6:c.G409A:p.D137N",T,N,D,T,N,T
chr3,124160800,124160800,C,T,R010_S,KALRN,Silent,NM_001322992,exon18,c.C3051T,p.T1017T,SNP,SNVindel,exonic,KALRN,NA,synonymous SNV,"KALRN:NM_001322992:exon18:c.C3051T:p.T1017T,KALRN:NM_001024660:exon19:c.C3201T:p.T1067T,KALRN:NM_001322988:exon19:c.C3201T:p.T1067T,KALRN:NM_001322989:exon19:c.C3174T:p.T1058T,KALRN:NM_001322990:exon19:c.C3162T:p.T1054T,KALRN:NM_001322991:exon19:c.C3135T:p.T1045T,KALRN:NM_003947:exon19:c.C3201T:p.T1067T",NA,NA,NA,NA,NA,NA
chr3,124418789,124418789,G,A,R010_S,KALRN,Silent,NM_001322993,exon23,c.G2811A,p.G937G,SNP,SNVindel,exonic,KALRN,NA,synonymous SNV,"KALRN:NM_001322993:exon23:c.G2811A:p.G937G,KALRN:NM_007064:exon23:c.G2814A:p.G938G,KALRN:NM_001024660:exon56:c.G7905A:p.G2635G",NA,NA,NA,NA,NA,NA
chr3,126071055,126071055,G,A,R010_S,KLF15,Silent,NM_014079,exon2,c.C711T,p.A237A,SNP,SNVindel,exonic,KLF15,NA,synonymous SNV,KLF15:NM_014079:exon2:c.C711T:p.A237A,NA,NA,NA,NA,NA,NA
chr3,126201221,126201221,G,A,R010_S,UROC1,Silent,NM_144639,exon20,c.C1998T,p.D666D,SNP,SNVindel,exonic,UROC1,NA,synonymous SNV,"UROC1:NM_144639:exon20:c.C1998T:p.D666D,UROC1:NM_001165974:exon21:c.C2178T:p.D726D",NA,NA,NA,NA,NA,NA
chr3,126226831,126226831,C,T,R010_S,UROC1,Silent,NM_001165974,exon5,c.G519A,p.R173R,SNP,SNVindel,exonic,UROC1,NA,synonymous SNV,"UROC1:NM_001165974:exon5:c.G519A:p.R173R,UROC1:NM_144639:exon5:c.G519A:p.R173R",NA,NA,NA,NA,NA,NA
chr3,127500636,127500636,G,A,R010_S,MGLL,Silent,NM_001003794,exon3,c.C228T,p.D76D,SNP,SNVindel,exonic,MGLL,NA,synonymous SNV,"MGLL:NM_001003794:exon3:c.C228T:p.D76D,MGLL:NM_001256585:exon3:c.C258T:p.D86D,MGLL:NM_007283:exon3:c.C258T:p.D86D",NA,NA,NA,NA,NA,NA
chr3,127816325,127816325,C,T,R010_S,RUVBL1,Silent,NM_001319084,exon8,c.G834A,p.E278E,SNP,SNVindel,exonic,RUVBL1,NA,synonymous SNV,"RUVBL1:NM_001319084:exon8:c.G834A:p.E278E,RUVBL1:NM_001319086:exon8:c.G654A:p.E218E,RUVBL1:NM_003707:exon8:c.G834A:p.E278E",NA,NA,NA,NA,NA,NA
chr3,129121377,129121377,C,T,R010_S,EFCAB12,Silent,NM_207307,exon8,c.G1449A,p.E483E,SNP,SNVindel,exonic,EFCAB12,NA,synonymous SNV,EFCAB12:NM_207307:exon8:c.G1449A:p.E483E,NA,NA,NA,NA,NA,NA
chr3,129179740,129179740,C,T,R010_S,IFT122,Silent,NM_001280541,exon5,c.C316T,p.L106L,SNP,SNVindel,exonic,IFT122,NA,synonymous SNV,"IFT122:NM_001280541:exon5:c.C316T:p.L106L,IFT122:NM_052985:exon5:c.C316T:p.L106L",NA,NA,NA,NA,NA,NA
chr3,129218812,129218812,G,A,R010_S,IFT122,Missense_Mutation,NM_052990,exon16,c.G1943A,p.R648K,SNP,SNVindel,exonic,IFT122,NA,nonsynonymous SNV,"IFT122:NM_052990:exon16:c.G1943A:p.R648K,IFT122:NM_001280546:exon17:c.G1649A:p.R550K,IFT122:NM_018262:exon18:c.G2099A:p.R700K,IFT122:NM_001280541:exon19:c.G2252A:p.R751K,IFT122:NM_052989:exon19:c.G2276A:p.R759K,IFT122:NM_001280545:exon20:c.G1826A:p.R609K,IFT122:NM_052985:exon20:c.G2429A:p.R810K",T,D,D,T,N,T
chr3,129292519,129292519,G,A,R010_S,PLXND1,Missense_Mutation,NM_015103,exon13,c.C2755T,p.R919W,SNP,SNVindel,exonic,PLXND1,NA,nonsynonymous SNV,PLXND1:NM_015103:exon13:c.C2755T:p.R919W,D,D,D,T,D,D
chr3,130095454,130095454,G,A,R010_S,COL6A5,Missense_Mutation,NM_001278298,exon3,c.G442A,p.D148N,SNP,SNVindel,exonic,COL6A5,NA,nonsynonymous SNV,"COL6A5:NM_001278298:exon3:c.G442A:p.D148N,COL6A5:NM_153264:exon3:c.G442A:p.D148N",T,.,D,D,D,D
chr3,130104059,130104059,C,T,R010_S,COL6A5,Silent,NM_001278298,exon5,c.C1713T,p.I571I,SNP,SNVindel,exonic,COL6A5,NA,synonymous SNV,"COL6A5:NM_001278298:exon5:c.C1713T:p.I571I,COL6A5:NM_153264:exon5:c.C1713T:p.I571I",NA,NA,NA,NA,NA,NA
chr3,130148424,130148424,G,A,R010_S,COL6A5,Nonsense_Mutation,NM_001278298,exon32,c.G5244A,p.W1748X,SNP,SNVindel,exonic,COL6A5,NA,stopgain,"COL6A5:NM_001278298:exon32:c.G5244A:p.W1748X,COL6A5:NM_153264:exon32:c.G5244A:p.W1748X",NA,NA,NA,NA,NA,NA
chr3,130150433,130150433,G,A,R010_S,COL6A5,Silent,NM_001278298,exon33,c.G5373A,p.R1791R,SNP,SNVindel,exonic,COL6A5,NA,synonymous SNV,"COL6A5:NM_001278298:exon33:c.G5373A:p.R1791R,COL6A5:NM_153264:exon33:c.G5373A:p.R1791R",NA,NA,NA,NA,NA,NA
chr3,130159185,130159185,C,T,R010_S,COL6A5,Silent,NM_001278298,exon35,c.C6003T,p.I2001I,SNP,SNVindel,exonic,COL6A5,NA,synonymous SNV,"COL6A5:NM_001278298:exon35:c.C6003T:p.I2001I,COL6A5:NM_153264:exon35:c.C6003T:p.I2001I",NA,NA,NA,NA,NA,NA
chr3,130282143,130282143,G,A,R010_S,COL6A6,Missense_Mutation,NM_001102608,exon2,c.G296A,p.G99E,SNP,SNVindel,exonic,COL6A6,NA,nonsynonymous SNV,COL6A6:NM_001102608:exon2:c.G296A:p.G99E,T,N,N,T,N,T
chr3,131268907,131268907,C,T,R010_S,CPNE4,Missense_Mutation,NM_001289112,exon14,c.G1240A,p.E414K,SNP,SNVindel,exonic,CPNE4,NA,nonsynonymous SNV,"CPNE4:NM_001289112:exon14:c.G1240A:p.E414K,CPNE4:NM_130808:exon14:c.G1186A:p.E396K,CPNE4:NM_153429:exon15:c.G1240A:p.E414K",D,D,D,T,N,T
chr3,133098776,133098776,C,T,R010_S,TMEM108,Missense_Mutation,NM_001136469,exon4,c.C221T,p.P74L,SNP,SNVindel,exonic,TMEM108,NA,nonsynonymous SNV,"TMEM108:NM_001136469:exon4:c.C221T:p.P74L,TMEM108:NM_023943:exon4:c.C221T:p.P74L",T,N,D,T,N,T
chr3,133119324,133119324,G,A,R010_S,BFSP2,Missense_Mutation,NM_003571,exon1,c.G397A,p.E133K,SNP,SNVindel,exonic,BFSP2,NA,nonsynonymous SNV,BFSP2:NM_003571:exon1:c.G397A:p.E133K,D,D,D,D,D,D
chr3,133692609,133692609,G,A,R010_S,SLCO2A1,Missense_Mutation,NM_005630,exon3,c.C295T,p.R99C,SNP,SNVindel,exonic,SLCO2A1,NA,nonsynonymous SNV,SLCO2A1:NM_005630:exon3:c.C295T:p.R99C,D,D,D,T,D,T
chr3,134089772,134089772,C,T,R010_S,AMOTL2,Silent,NM_001278683,exon2,c.G678A,p.E226E,SNP,SNVindel,exonic,AMOTL2,NA,synonymous SNV,"AMOTL2:NM_001278683:exon2:c.G678A:p.E226E,AMOTL2:NM_001278685:exon2:c.G504A:p.E168E,AMOTL2:NM_001363943:exon2:c.G504A:p.E168E,AMOTL2:NM_016201:exon2:c.G504A:p.E168E",NA,NA,NA,NA,NA,NA
chr3,137729260,137729260,C,T,R010_S,CLDN18,Missense_Mutation,NM_016369,exon1,c.C193T,p.P65S,SNP,SNVindel,exonic,CLDN18,NA,nonsynonymous SNV,CLDN18:NM_016369:exon1:c.C193T:p.P65S,T,.,D,D,N,T
chr3,138179477,138179477,C,T,R010_S,ESYT3,Silent,NM_001322831,exon7,c.C763T,p.L255L,SNP,SNVindel,exonic,ESYT3,NA,synonymous SNV,"ESYT3:NM_001322831:exon7:c.C763T:p.L255L,ESYT3:NM_001322834:exon7:c.C763T:p.L255L,ESYT3:NM_031913:exon7:c.C763T:p.L255L",NA,NA,NA,NA,NA,NA
chr3,138456622,138456622,G,A,R010_S,PIK3CB,Missense_Mutation,NM_006219,exon6,c.C728T,p.P243L,SNP,SNVindel,exonic,PIK3CB,NA,nonsynonymous SNV,PIK3CB:NM_006219:exon6:c.C728T:p.P243L,D,D,D,T,D,T
chr3,139096893,139096893,C,T,R010_S,COPB2,Missense_Mutation,NM_004766,exon5,c.G494A,p.R165K,SNP,SNVindel,exonic,COPB2,NA,nonsynonymous SNV,COPB2:NM_004766:exon5:c.G494A:p.R165K,T,D,D,T,N,T
chr3,141640882,141640882,C,T,R010_S,ATP1B3,Missense_Mutation,NM_001679,exon6,c.C646T,p.P216S,SNP,SNVindel,exonic,ATP1B3,NA,nonsynonymous SNV,ATP1B3:NM_001679:exon6:c.C646T:p.P216S,D,D,D,T,D,D
chr3,141712410,141712410,C,T,R010_S,TFDP2,Missense_Mutation,NM_001178140,exon3,c.G242A,p.R81K,SNP,SNVindel,exonic,TFDP2,NA,nonsynonymous SNV,"TFDP2:NM_001178140:exon3:c.G242A:p.R81K,TFDP2:NM_001178141:exon3:c.G35A:p.R12K,TFDP2:NM_006286:exon4:c.G143A:p.R48K,TFDP2:NM_001178139:exon6:c.G326A:p.R109K,TFDP2:NM_001178138:exon7:c.G143A:p.R48K",T,D,D,T,N,T
chr3,142278140,142278140,G,A,R010_S,ATR,Missense_Mutation,NM_001354579,exon6,c.C1493T,p.T498I,SNP,SNVindel,exonic,ATR,NA,nonsynonymous SNV,"ATR:NM_001354579:exon6:c.C1493T:p.T498I,ATR:NM_001184:exon7:c.C1685T:p.T562I",T,N,N,T,N,T
chr3,142754837,142754837,C,T,R010_S,U2SURP,Missense_Mutation,NM_001320220,exon19,c.C728T,p.T243I,SNP,SNVindel,exonic,U2SURP,NA,nonsynonymous SNV,"U2SURP:NM_001320220:exon19:c.C728T:p.T243I,U2SURP:NM_001080415:exon20:c.C1955T:p.T652I,U2SURP:NM_001320219:exon20:c.C1952T:p.T651I,U2SURP:NM_001320222:exon21:c.C656T:p.T219I",T,D,D,T,N,T
chr3,145917692,145917692,C,T,R010_S,PLSCR4,Missense_Mutation,NM_001128305,exon6,c.G532A,p.V178I,SNP,SNVindel,exonic,PLSCR4,NA,nonsynonymous SNV,"PLSCR4:NM_001128305:exon6:c.G532A:p.V178I,PLSCR4:NM_020353:exon6:c.G532A:p.V178I,PLSCR4:NM_001128304:exon8:c.G532A:p.V178I",T,D,D,T,N,T
chr3,150128538,150128538,G,A,R010_S,TSC22D2,Silent,NM_001303264,exon1,c.G1401A,p.Q467Q,SNP,SNVindel,exonic,TSC22D2,NA,synonymous SNV,"TSC22D2:NM_001303264:exon1:c.G1401A:p.Q467Q,TSC22D2:NM_014779:exon1:c.G1401A:p.Q467Q",NA,NA,NA,NA,NA,NA
chr3,151163664,151163664,T,C,R010_S,IGSF10,Missense_Mutation,NM_178822,exon4,c.A4105G,p.T1369A,SNP,SNVindel,exonic,IGSF10,NA,nonsynonymous SNV,IGSF10:NM_178822:exon4:c.A4105G:p.T1369A,T,N,N,T,N,T
chr3,153840023,153840023,C,T,R010_S,ARHGEF26,Missense_Mutation,NM_001251962,exon2,c.C242T,p.P81L,SNP,SNVindel,exonic,ARHGEF26,NA,nonsynonymous SNV,"ARHGEF26:NM_001251962:exon2:c.C242T:p.P81L,ARHGEF26:NM_001251963:exon2:c.C242T:p.P81L,ARHGEF26:NM_015595:exon2:c.C242T:p.P81L",D,N,N,T,N,T
chr3,153840216,153840216,C,T,R010_S,ARHGEF26,Silent,NM_001251962,exon2,c.C435T,p.R145R,SNP,SNVindel,exonic,ARHGEF26,NA,synonymous SNV,"ARHGEF26:NM_001251962:exon2:c.C435T:p.R145R,ARHGEF26:NM_001251963:exon2:c.C435T:p.R145R,ARHGEF26:NM_015595:exon2:c.C435T:p.R145R",NA,NA,NA,NA,NA,NA
chr3,153909199,153909199,C,T,R010_S,ARHGEF26,Silent,NM_001251962,exon8,c.C1762T,p.L588L,SNP,SNVindel,exonic,ARHGEF26,NA,synonymous SNV,"ARHGEF26:NM_001251962:exon8:c.C1762T:p.L588L,ARHGEF26:NM_001251963:exon8:c.C1762T:p.L588L,ARHGEF26:NM_015595:exon8:c.C1762T:p.L588L",NA,NA,NA,NA,NA,NA
chr3,154002719,154002719,G,A,R010_S,DHX36,Missense_Mutation,NM_001114397,exon18,c.C2047T,p.P683S,SNP,SNVindel,exonic,DHX36,NA,nonsynonymous SNV,"DHX36:NM_001114397:exon18:c.C2047T:p.P683S,DHX36:NM_020865:exon18:c.C2089T:p.P697S",D,D,D,T,D,T
chr3,155200402,155200402,C,T,R010_S,PLCH1,Missense_Mutation,NM_014996,exon22,c.G3413A,p.R1138Q,SNP,SNVindel,exonic,PLCH1,NA,nonsynonymous SNV,"PLCH1:NM_014996:exon22:c.G3413A:p.R1138Q,PLCH1:NM_001130960:exon23:c.G3437A:p.R1146Q,PLCH1:NM_001349251:exon23:c.G3410A:p.R1137Q",T,N,N,T,N,T
chr3,155611339,155611339,C,T,R010_S,GMPS,Silent,NM_003875,exon2,c.C60T,p.G20G,SNP,SNVindel,exonic,GMPS,NA,synonymous SNV,GMPS:NM_003875:exon2:c.C60T:p.G20G,NA,NA,NA,NA,NA,NA
chr3,156866133,156866133,C,T,R010_S,CCNL1,Missense_Mutation,NM_020307,exon11,c.G1478A,p.G493E,SNP,SNVindel,exonic,CCNL1,NA,nonsynonymous SNV,CCNL1:NM_020307:exon11:c.G1478A:p.G493E,T,D,D,T,N,T
chr3,156870940,156870940,G,A,R010_S,CCNL1,Missense_Mutation,NM_001308185,exon4,c.C494T,p.P165L,SNP,SNVindel,exonic,CCNL1,NA,nonsynonymous SNV,"CCNL1:NM_001308185:exon4:c.C494T:p.P165L,CCNL1:NM_020307:exon4:c.C494T:p.P165L",T,D,D,T,N,T
chr3,157822887,157822887,C,T,R010_S,SHOX2,Silent,NM_003030,exon2,c.G378A,p.Q126Q,SNP,SNVindel,exonic,SHOX2,NA,synonymous SNV,SHOX2:NM_003030:exon2:c.G378A:p.Q126Q,NA,NA,NA,NA,NA,NA
chr3,164739161,164739161,G,A,R010_S,SI,Missense_Mutation,NM_001041,exon27,c.C3110T,p.P1037L,SNP,SNVindel,exonic,SI,NA,nonsynonymous SNV,SI:NM_001041:exon27:c.C3110T:p.P1037L,D,N,D,T,D,T
chr3,167338264,167338264,C,T,R010_S,WDR49,Missense_Mutation,NM_001348951,exon5,c.G911A,p.C304Y,SNP,SNVindel,exonic,WDR49,NA,nonsynonymous SNV,"WDR49:NM_001348951:exon5:c.G911A:p.C304Y,WDR49:NM_001348952:exon5:c.G911A:p.C304Y,WDR49:NM_001366157:exon5:c.G911A:p.C304Y",T,.,D,T,D,T
chr3,167344966,167344966,C,T,R010_S,WDR49,Missense_Mutation,NM_001348951,exon3,c.G280A,p.D94N,SNP,SNVindel,exonic,WDR49,NA,nonsynonymous SNV,"WDR49:NM_001348951:exon3:c.G280A:p.D94N,WDR49:NM_001348952:exon3:c.G280A:p.D94N,WDR49:NM_001366157:exon3:c.G280A:p.D94N",D,.,D,T,D,D
chr3,169540402,169540402,C,T,R010_S,LRRIQ4,Silent,NM_001080460,exon1,c.C693T,p.C231C,SNP,SNVindel,exonic,LRRIQ4,NA,synonymous SNV,LRRIQ4:NM_001080460:exon1:c.C693T:p.C231C,NA,NA,NA,NA,NA,NA
chr3,169835163,169835163,G,A,R010_S,PHC3,Missense_Mutation,NM_001308116,exon10,c.C2008T,p.P670S,SNP,SNVindel,exonic,PHC3,NA,nonsynonymous SNV,"PHC3:NM_001308116:exon10:c.C2008T:p.P670S,PHC3:NM_024947:exon10:c.C2044T:p.P682S",T,D,D,T,N,T
chr3,171406512,171406512,C,T,R010_S,PLD1,Missense_Mutation,NM_001130081,exon14,c.G1493A,p.G498D,SNP,SNVindel,exonic,PLD1,NA,nonsynonymous SNV,"PLD1:NM_001130081:exon14:c.G1493A:p.G498D,PLD1:NM_002662:exon14:c.G1493A:p.G498D",D,D,D,T,D,T
chr3,172165985,172165985,C,T,R010_S,GHSR,Silent,NM_004122,exon1,c.G219A,p.E73E,SNP,SNVindel,exonic,GHSR,NA,synonymous SNV,"GHSR:NM_004122:exon1:c.G219A:p.E73E,GHSR:NM_198407:exon1:c.G219A:p.E73E",NA,NA,NA,NA,NA,NA
chr3,179069729,179069729,G,A,R010_S,MFN1,Missense_Mutation,NM_033540,exon3,c.G154A,p.D52N,SNP,SNVindel,exonic,MFN1,NA,nonsynonymous SNV,MFN1:NM_033540:exon3:c.G154A:p.D52N,T,N,D,D,N,D
chr3,180327509,180327509,G,A,R010_S,TTC14,Missense_Mutation,NM_001288582,exon12,c.G1492A,p.G498S,SNP,SNVindel,exonic,TTC14,NA,nonsynonymous SNV,"TTC14:NM_001288582:exon12:c.G1492A:p.G498S,TTC14:NM_133462:exon12:c.G1492A:p.G498S",T,N,D,T,N,T
chr3,180671621,180671621,T,C,R010_S,FXR1,Silent,NM_001013438,exon9,c.T873C,p.N291N,SNP,SNVindel,exonic,FXR1,NA,synonymous SNV,"FXR1:NM_001013438:exon9:c.T873C:p.N291N,FXR1:NM_005087:exon9:c.T873C:p.N291N,FXR1:NM_001013439:exon10:c.T618C:p.N206N,FXR1:NM_001363882:exon10:c.T618C:p.N206N",NA,NA,NA,NA,NA,NA
chr3,183013180,183013180,G,A,R010_S,MCF2L2,Missense_Mutation,NM_015078,exon13,c.C1583T,p.A528V,SNP,SNVindel,exonic,MCF2L2,NA,nonsynonymous SNV,MCF2L2:NM_015078:exon13:c.C1583T:p.A528V,T,D,D,T,D,T
chr3,183442307,183442307,G,A,R010_S,YEATS2,Missense_Mutation,NM_001351369,exon6,c.G638A,p.G213D,SNP,SNVindel,exonic,YEATS2,NA,nonsynonymous SNV,"YEATS2:NM_001351369:exon6:c.G638A:p.G213D,YEATS2:NM_001351370:exon6:c.G638A:p.G213D,YEATS2:NM_001351371:exon6:c.G638A:p.G213D,YEATS2:NM_018023:exon6:c.G638A:p.G213D",D,D,D,T,D,D
chr3,183480023,183480023,C,T,R010_S,YEATS2,Missense_Mutation,NM_001351369,exon15,c.C1903T,p.P635S,SNP,SNVindel,exonic,YEATS2,NA,nonsynonymous SNV,"YEATS2:NM_001351369:exon15:c.C1903T:p.P635S,YEATS2:NM_001351370:exon15:c.C1906T:p.P636S,YEATS2:NM_001351371:exon15:c.C1903T:p.P635S,YEATS2:NM_018023:exon15:c.C1903T:p.P635S",T,N,N,T,N,T
chr3,183669276,183669276,G,A,R010_S,ABCC5,Missense_Mutation,NM_001320032,exon20,c.C1481T,p.T494I,SNP,SNVindel,exonic,ABCC5,NA,nonsynonymous SNV,"ABCC5:NM_001320032:exon20:c.C1481T:p.T494I,ABCC5:NM_005688:exon20:c.C2897T:p.T966I",T,D,D,D,D,D
chr3,183823690,183823690,G,A,R010_S,HTR3E,Silent,NM_001256614,exon5,c.G936A,p.L312L,SNP,SNVindel,exonic,HTR3E,NA,synonymous SNV,"HTR3E:NM_001256614:exon5:c.G936A:p.L312L,HTR3E:NM_198314:exon5:c.G858A:p.L286L,HTR3E:NM_182589:exon6:c.G903A:p.L301L,HTR3E:NM_198313:exon6:c.G813A:p.L271L,HTR3E:NM_001256613:exon7:c.G858A:p.L286L",NA,NA,NA,NA,NA,NA
chr3,183956557,183956557,C,T,R010_S,VWA5B2,Missense_Mutation,NM_001320373,exon11,c.C1444T,p.P482S,SNP,SNVindel,exonic,VWA5B2,NA,nonsynonymous SNV,"VWA5B2:NM_001320373:exon11:c.C1444T:p.P482S,VWA5B2:NM_138345:exon13:c.C2098T:p.P700S",T,N,N,T,N,T
chr3,184005654,184005654,C,T,R010_S,ECE2,Silent,NM_001037324,exon10,c.C1206T,p.I402I,SNP,SNVindel,exonic,ECE2;EEF1AKMT4-ECE2,NA,synonymous SNV,"ECE2:NM_001037324:exon10:c.C1206T:p.I402I,ECE2:NM_001100120:exon11:c.C1431T:p.I477I,ECE2:NM_001100121:exon11:c.C1293T:p.I431I,EEF1AKMT4-ECE2:NM_014693:exon11:c.C1647T:p.I549I",NA,NA,NA,NA,NA,NA
chr3,184585841,184585841,G,A,R010_S,VPS8,Nonsense_Mutation,NM_001349296,exon16,c.G1461A,p.W487X,SNP,SNVindel,exonic,VPS8,NA,stopgain,"VPS8:NM_001349296:exon16:c.G1461A:p.W487X,VPS8:NM_001009921:exon17:c.G1500A:p.W500X,VPS8:NM_001349293:exon17:c.G1500A:p.W500X,VPS8:NM_001349294:exon17:c.G1500A:p.W500X,VPS8:NM_001349295:exon17:c.G1500A:p.W500X,VPS8:NM_015303:exon17:c.G1494A:p.W498X,VPS8:NM_001349292:exon18:c.G1500A:p.W500X",.,D,A,.,.,.
chr3,186760920,186760920,C,T,R010_S,ST6GAL1,Silent,NM_001353916,exon2,c.C429T,p.H143H,SNP,SNVindel,exonic,ST6GAL1,NA,synonymous SNV,"ST6GAL1:NM_001353916:exon2:c.C429T:p.H143H,ST6GAL1:NM_003032:exon3:c.C429T:p.H143H,ST6GAL1:NM_173216:exon4:c.C429T:p.H143H",NA,NA,NA,NA,NA,NA
chr3,187089045,187089045,G,A,R010_S,RTP4,Missense_Mutation,NM_022147,exon2,c.G625A,p.A209T,SNP,SNVindel,exonic,RTP4,NA,nonsynonymous SNV,RTP4:NM_022147:exon2:c.G625A:p.A209T,D,.,N,T,N,T
chr3,189690698,189690698,G,A,R010_S,P3H2,Missense_Mutation,NM_001134418,exon11,c.C1121T,p.S374F,SNP,SNVindel,exonic,P3H2,NA,nonsynonymous SNV,"P3H2:NM_001134418:exon11:c.C1121T:p.S374F,P3H2:NM_018192:exon11:c.C1664T:p.S555F",D,D,D,T,D,T
chr3,192973534,192973534,C,T,R010_S,PLAAT1,Missense_Mutation,NM_020386,exon2,c.C95T,p.A32V,SNP,SNVindel,exonic,PLAAT1,NA,nonsynonymous SNV,"PLAAT1:NM_020386:exon2:c.C95T:p.A32V,PLAAT1:NM_001366112:exon3:c.C95T:p.A32V",.,D,D,T,.,T
chr3,194062907,194062907,G,A,R010_S,CPN2,Silent,NM_001080513,exon2,c.C525T,p.N175N,SNP,SNVindel,exonic,CPN2,NA,synonymous SNV,"CPN2:NM_001080513:exon2:c.C525T:p.N175N,CPN2:NM_001291988:exon2:c.C525T:p.N175N",NA,NA,NA,NA,NA,NA
chr3,194167736,194167736,G,A,R010_S,ATP13A3,Silent,NM_024524,exon13,c.C1417T,p.L473L,SNP,SNVindel,exonic,ATP13A3,NA,synonymous SNV,"ATP13A3:NM_024524:exon13:c.C1417T:p.L473L,ATP13A3:NM_001367549:exon14:c.C1417T:p.L473L",NA,NA,NA,NA,NA,NA
chr3,194407663,194407663,C,T,R010_S,FAM43A,Silent,NM_153690,exon1,c.C108T,p.S36S,SNP,SNVindel,exonic,FAM43A,NA,synonymous SNV,FAM43A:NM_153690:exon1:c.C108T:p.S36S,NA,NA,NA,NA,NA,NA
chr3,195453334,195453334,G,A,R010_S,MUC20,Silent,NM_001282506,exon2,c.G1860A,p.G620G,SNP,SNVindel,exonic,MUC20,NA,synonymous SNV,"MUC20:NM_001282506:exon2:c.G1860A:p.G620G,MUC20:NM_001291833:exon4:c.G1347A:p.G449G,MUC20:NM_020790:exon4:c.G1404A:p.G468G,MUC20:NM_152673:exon4:c.G1347A:p.G449G",NA,NA,NA,NA,NA,NA
chr3,195517286,195517286,C,T,R010_S,MUC4,Missense_Mutation,NM_018406,exon2,c.G1165A,p.V389I,SNP,SNVindel,exonic,MUC4,NA,nonsynonymous SNV,MUC4:NM_018406:exon2:c.G1165A:p.V389I,D,N,N,T,N,T
chr3,195955001,195955001,C,T,R010_S,SLC51A,Silent,NM_152672,exon5,c.C378T,p.C126C,SNP,SNVindel,exonic,SLC51A,NA,synonymous SNV,SLC51A:NM_152672:exon5:c.C378T:p.C126C,NA,NA,NA,NA,NA,NA
chr3,196229826,196229826,G,A,R010_S,RNF168,Silent,NM_152617,exon1,c.C219T,p.N73N,SNP,SNVindel,exonic,RNF168,NA,synonymous SNV,RNF168:NM_152617:exon1:c.C219T:p.N73N,NA,NA,NA,NA,NA,NA
chr3,196443792,196443792,G,A,R010_S,PIGX,Missense_Mutation,NM_001166304,exon2,c.G176A,p.R59K,SNP,SNVindel,exonic,PIGX,NA,nonsynonymous SNV,"PIGX:NM_001166304:exon2:c.G176A:p.R59K,PIGX:NM_017861:exon2:c.G176A:p.R59K",D,D,D,T,N,T
chr3,196626814,196626814,G,A,R010_S,SENP5,Missense_Mutation,NM_001308045,exon4,c.G1639A,p.E547K,SNP,SNVindel,exonic,SENP5,NA,nonsynonymous SNV,"SENP5:NM_001308045:exon4:c.G1639A:p.E547K,SENP5:NM_152699:exon4:c.G1639A:p.E547K",D,D,D,T,N,T
chr3,197640828,197640828,G,A,R010_S,IQCG,Missense_Mutation,NM_001134435,exon7,c.C812T,p.T271I,SNP,SNVindel,exonic,IQCG,NA,nonsynonymous SNV,"IQCG:NM_001134435:exon7:c.C812T:p.T271I,IQCG:NM_001323027:exon7:c.C812T:p.T271I,IQCG:NM_001323028:exon7:c.C755T:p.T252I,IQCG:NM_001323029:exon8:c.C518T:p.T173I,IQCG:NM_001323030:exon8:c.C812T:p.T271I,IQCG:NM_032263:exon8:c.C812T:p.T271I",D,N,N,T,N,T
chr3,197762736,197762736,G,A,R010_S,LMLN,Nonsense_Mutation,NM_033029,exon15,c.G1689A,p.W563X,SNP,SNVindel,exonic,LMLN,NA,stopgain,"LMLN:NM_033029:exon15:c.G1689A:p.W563X,LMLN:NM_001136049:exon16:c.G1800A:p.W600X",.,D,A,.,.,.
chr4,871446,871446,C,T,R010_S,GAK,Missense_Mutation,NM_001318134,exon13,c.G1576A,p.D526N,SNP,SNVindel,exonic,GAK,NA,nonsynonymous SNV,"GAK:NM_001318134:exon13:c.G1576A:p.D526N,GAK:NM_005255:exon16:c.G1813A:p.D605N",T,D,D,D,N,D
chr4,949575,949575,G,A,R010_S,TMEM175,Missense_Mutation,NM_001297424,exon8,c.G493A,p.V165I,SNP,SNVindel,exonic,TMEM175,NA,nonsynonymous SNV,"TMEM175:NM_001297424:exon8:c.G493A:p.V165I,TMEM175:NM_001297425:exon8:c.G493A:p.V165I,TMEM175:NM_001297428:exon8:c.G391A:p.V131I,TMEM175:NM_001297423:exon10:c.G493A:p.V165I,TMEM175:NM_001297427:exon10:c.G391A:p.V131I,TMEM175:NM_032326:exon10:c.G739A:p.V247I,TMEM175:NM_001297426:exon11:c.G391A:p.V131I",T,N,N,T,N,T
chr4,994401,994401,G,A,R010_S,IDUA,Missense_Mutation,NM_000203,exon3,c.G301A,p.G101R,SNP,SNVindel,exonic,IDUA,NA,nonsynonymous SNV,IDUA:NM_000203:exon3:c.G301A:p.G101R,T,N,D,D,N,T
chr4,1017846,1017846,C,T,R010_S,FGFRL1,Silent,NM_021923,exon4,c.C675T,p.N225N,SNP,SNVindel,exonic,FGFRL1,NA,synonymous SNV,"FGFRL1:NM_021923:exon4:c.C675T:p.N225N,FGFRL1:NM_001004356:exon5:c.C675T:p.N225N,FGFRL1:NM_001004358:exon5:c.C675T:p.N225N,FGFRL1:NM_001370296:exon5:c.C675T:p.N225N",NA,NA,NA,NA,NA,NA
chr4,1670436,1670436,G,A,R010_S,FAM53A,Silent,NM_001013622,exon2,c.C33T,p.S11S,SNP,SNVindel,exonic,FAM53A,NA,synonymous SNV,"FAM53A:NM_001013622:exon2:c.C33T:p.S11S,FAM53A:NM_001174070:exon2:c.C33T:p.S11S,FAM53A:NM_001297435:exon2:c.C33T:p.S11S",NA,NA,NA,NA,NA,NA
chr4,1795758,1795758,G,A,R010_S,FGFR3,Missense_Mutation,NM_000142,exon2,c.G97A,p.G33R,SNP,SNVindel,exonic,FGFR3,NA,nonsynonymous SNV,"FGFR3:NM_000142:exon2:c.G97A:p.G33R,FGFR3:NM_001163213:exon2:c.G97A:p.G33R,FGFR3:NM_001354809:exon2:c.G97A:p.G33R,FGFR3:NM_001354810:exon2:c.G97A:p.G33R,FGFR3:NM_022965:exon2:c.G97A:p.G33R",T,N,N,T,N,T
chr4,1834555,1834555,C,T,R010_S,LETM1,Silent,NM_012318,exon6,c.G996A,p.L332L,SNP,SNVindel,exonic,LETM1,NA,synonymous SNV,LETM1:NM_012318:exon6:c.G996A:p.L332L,NA,NA,NA,NA,NA,NA
chr4,1850903,1850903,G,A,R010_S,LETM1,Missense_Mutation,NM_012318,exon2,c.C116T,p.A39V,SNP,SNVindel,exonic,LETM1,NA,nonsynonymous SNV,LETM1:NM_012318:exon2:c.C116T:p.A39V,T,N,N,.,N,T
chr4,1905947,1905947,C,T,R010_S,NSD2,Missense_Mutation,NM_133334,exon2,c.C602T,p.P201L,SNP,SNVindel,exonic,NSD2,NA,nonsynonymous SNV,"NSD2:NM_133334:exon2:c.C602T:p.P201L,NSD2:NM_001042424:exon3:c.C602T:p.P201L,NSD2:NM_133335:exon3:c.C602T:p.P201L,NSD2:NM_133331:exon4:c.C602T:p.P201L,NSD2:NM_007331:exon5:c.C602T:p.P201L,NSD2:NM_133330:exon5:c.C602T:p.P201L",T,N,D,D,N,T
chr4,1987554,1987554,C,A,R010_S,NELFA,Silent,NM_005663,exon7,c.G873T,p.T291T,SNP,SNVindel,exonic,NELFA,NA,synonymous SNV,NELFA:NM_005663:exon7:c.G873T:p.T291T,NA,NA,NA,NA,NA,NA
chr4,2073909,2073909,C,T,R010_S,POLN,Missense_Mutation,NM_181808,exon26,c.G2635A,p.A879T,SNP,SNVindel,exonic,POLN,NA,nonsynonymous SNV,POLN:NM_181808:exon26:c.G2635A:p.A879T,D,N,N,T,N,T
chr4,2701656,2701656,G,A,R010_S,FAM193A,Missense_Mutation,NM_001256666,exon17,c.G2884A,p.V962I,SNP,SNVindel,exonic,FAM193A,NA,nonsynonymous SNV,"FAM193A:NM_001256666:exon17:c.G2884A:p.V962I,FAM193A:NM_001256668:exon17:c.G2884A:p.V962I,FAM193A:NM_003704:exon17:c.G2884A:p.V962I,FAM193A:NM_001256667:exon18:c.G2950A:p.V984I,FAM193A:NM_001366316:exon19:c.G3586A:p.V1196I,FAM193A:NM_001366318:exon19:c.G3757A:p.V1253I",T,N,N,T,N,T
chr4,2943961,2943961,C,T,R010_S,NOP14,Missense_Mutation,NM_001291978,exon14,c.G2009A,p.S670N,SNP,SNVindel,exonic,NOP14,NA,nonsynonymous SNV,"NOP14:NM_001291978:exon14:c.G2009A:p.S670N,NOP14:NM_001291979:exon14:c.G2009A:p.S670N,NOP14:NM_003703:exon14:c.G2009A:p.S670N",T,N,N,T,N,T
chr4,2955371,2955371,C,T,R010_S,NOP14,Missense_Mutation,NM_001291978,exon5,c.G614A,p.R205K,SNP,SNVindel,exonic,NOP14,NA,nonsynonymous SNV,"NOP14:NM_001291978:exon5:c.G614A:p.R205K,NOP14:NM_001291979:exon5:c.G614A:p.R205K,NOP14:NM_003703:exon5:c.G614A:p.R205K",T,D,D,T,N,T
chr4,3240320,3240320,C,T,R010_S,HTT,Missense_Mutation,NM_002111,exon65,c.C9038T,p.A3013V,SNP,SNVindel,exonic,HTT,NA,nonsynonymous SNV,HTT:NM_002111:exon65:c.C9038T:p.A3013V,D,D,D,T,D,D
chr4,3491454,3491454,G,A,R010_S,DOK7,Missense_Mutation,NM_001363811,exon4,c.G271A,p.A91T,SNP,SNVindel,exonic,DOK7,NA,nonsynonymous SNV,"DOK7:NM_001363811:exon4:c.G271A:p.A91T,DOK7:NM_001164673:exon6:c.G692A:p.S231N,DOK7:NM_001301071:exon6:c.G703A:p.A235T,DOK7:NM_173660:exon6:c.G703A:p.A235T",D,D,D,T,N,D
chr4,3514704,3514704,G,A,R010_S,LRPAP1,Silent,NM_002337,exon8,c.C1071T,p.L357L,SNP,SNVindel,exonic,LRPAP1,NA,synonymous SNV,LRPAP1:NM_002337:exon8:c.C1071T:p.L357L,NA,NA,NA,NA,NA,NA
chr4,3520615,3520615,G,A,R010_S,LRPAP1,Missense_Mutation,NM_002337,exon4,c.C575T,p.T192I,SNP,SNVindel,exonic,LRPAP1,NA,nonsynonymous SNV,LRPAP1:NM_002337:exon4:c.C575T:p.T192I,D,D,D,T,D,T
chr4,4864428,4864428,G,A,R010_S,MSX1,Missense_Mutation,NM_002448,exon2,c.G470A,p.R157K,SNP,SNVindel,exonic,MSX1,NA,nonsynonymous SNV,MSX1:NM_002448:exon2:c.G470A:p.R157K,D,D,D,D,N,D
chr4,5578122,5578122,C,T,R010_S,EVC2,Silent,NM_001166136,exon18,c.G2877A,p.Q959Q,SNP,SNVindel,exonic,EVC2,NA,synonymous SNV,"EVC2:NM_001166136:exon18:c.G2877A:p.Q959Q,EVC2:NM_147127:exon18:c.G3117A:p.Q1039Q",NA,NA,NA,NA,NA,NA
chr4,5642551,5642551,G,A,R010_S,EVC2,Missense_Mutation,NM_001166136,exon10,c.C920T,p.T307I,SNP,SNVindel,exonic,EVC2,NA,nonsynonymous SNV,"EVC2:NM_001166136:exon10:c.C920T:p.T307I,EVC2:NM_147127:exon10:c.C1160T:p.T387I",D,N,N,T,D,T
chr4,7787959,7787959,C,T,R010_S,AFAP1,Missense_Mutation,NM_001371090,exon11,c.G1492A,p.A498T,SNP,SNVindel,exonic,AFAP1,NA,nonsynonymous SNV,"AFAP1:NM_001371090:exon11:c.G1492A:p.A498T,AFAP1:NM_001134647:exon12:c.G1492A:p.A498T,AFAP1:NM_198595:exon12:c.G1492A:p.A498T,AFAP1:NM_001371091:exon13:c.G1492A:p.A498T",T,D,D,T,N,T
chr4,8398755,8398755,G,A,R010_S,ACOX3,Missense_Mutation,NM_001101667,exon9,c.C965T,p.A322V,SNP,SNVindel,exonic,ACOX3,NA,nonsynonymous SNV,"ACOX3:NM_001101667:exon9:c.C965T:p.A322V,ACOX3:NM_003501:exon9:c.C965T:p.A322V",D,D,D,T,D,D
chr4,8872982,8872982,G,A,R010_S,HMX1,Missense_Mutation,NM_001306142,exon1,c.C359T,p.A120V,SNP,SNVindel,exonic,HMX1,NA,nonsynonymous SNV,"HMX1:NM_001306142:exon1:c.C359T:p.A120V,HMX1:NM_018942:exon1:c.C359T:p.A120V",T,.,N,D,D,T
chr4,11401301,11401301,G,A,R010_S,HS3ST1,Missense_Mutation,NM_005114,exon2,c.C329T,p.S110F,SNP,SNVindel,exonic,HS3ST1,NA,nonsynonymous SNV,HS3ST1:NM_005114:exon2:c.C329T:p.S110F,D,D,D,D,D,D
chr4,15063809,15063809,C,T,R010_S,CPEB2,Silent,NM_001177384,exon9,c.C2697T,p.F899F,SNP,SNVindel,exonic,CPEB2,NA,synonymous SNV,"CPEB2:NM_001177384:exon9:c.C2697T:p.F899F,CPEB2:NM_182646:exon9:c.C2688T:p.F896F,CPEB2:NM_001177381:exon10:c.C2721T:p.F907F,CPEB2:NM_001177383:exon10:c.C2712T:p.F904F,CPEB2:NM_182485:exon10:c.C2778T:p.F926F,CPEB2:NM_001177382:exon11:c.C2802T:p.F934F",NA,NA,NA,NA,NA,NA
chr4,15638157,15638157,T,G,R010_S,FBXL5,Silent,NM_001193534,exon5,c.A723C,p.G241G,SNP,SNVindel,exonic,FBXL5,NA,synonymous SNV,"FBXL5:NM_001193534:exon5:c.A723C:p.G241G,FBXL5:NM_001193535:exon5:c.A675C:p.G225G,FBXL5:NM_012161:exon5:c.A726C:p.G242G",NA,NA,NA,NA,NA,NA
chr4,17710618,17710618,G,A,R010_S,FAM184B,Missense_Mutation,NM_015688,exon2,c.C791T,p.A264V,SNP,SNVindel,exonic,FAM184B,NA,nonsynonymous SNV,FAM184B:NM_015688:exon2:c.C791T:p.A264V,T,N,D,T,N,T
chr4,17710713,17710713,G,A,R010_S,FAM184B,Silent,NM_015688,exon2,c.C696T,p.I232I,SNP,SNVindel,exonic,FAM184B,NA,synonymous SNV,FAM184B:NM_015688:exon2:c.C696T:p.I232I,NA,NA,NA,NA,NA,NA
chr4,20598118,20598118,C,T,R010_S,SLIT2,Missense_Mutation,NM_001289135,exon31,c.C3389T,p.A1130V,SNP,SNVindel,exonic,SLIT2,NA,nonsynonymous SNV,"SLIT2:NM_001289135:exon31:c.C3389T:p.A1130V,SLIT2:NM_001289136:exon31:c.C3377T:p.A1126V,SLIT2:NM_004787:exon32:c.C3401T:p.A1134V",T,D,D,D,N,D
chr4,24577890,24577890,C,T,R010_S,DHX15,Silent,NM_001358,exon2,c.G483A,p.E161E,SNP,SNVindel,exonic,DHX15,NA,synonymous SNV,DHX15:NM_001358:exon2:c.G483A:p.E161E,NA,NA,NA,NA,NA,NA
chr4,25677854,25677854,G,A,R010_S,SLC34A2,Missense_Mutation,NM_001177998,exon13,c.G1553A,p.G518D,SNP,SNVindel,exonic,SLC34A2,NA,nonsynonymous SNV,"SLC34A2:NM_001177998:exon13:c.G1553A:p.G518D,SLC34A2:NM_001177999:exon13:c.G1553A:p.G518D,SLC34A2:NM_006424:exon13:c.G1556A:p.G519D",D,D,D,T,D,T
chr4,25929976,25929976,G,A,R010_S,SMIM20,Missense_Mutation,NM_001145432,exon2,c.G151A,p.D51N,SNP,SNVindel,exonic,SMIM20,NA,nonsynonymous SNV,SMIM20:NM_001145432:exon2:c.G151A:p.D51N,T,N,D,T,N,T
chr4,36216096,36216096,G,A,R010_S,ARAP2,Silent,NM_015230,exon3,c.C912T,p.F304F,SNP,SNVindel,exonic,ARAP2,NA,synonymous SNV,ARAP2:NM_015230:exon3:c.C912T:p.F304F,NA,NA,NA,NA,NA,NA
chr4,39064404,39064404,G,A,R010_S,KLHL5,Silent,NM_015990,exon1,c.G270A,p.Q90Q,SNP,SNVindel,exonic,KLHL5,NA,synonymous SNV,"KLHL5:NM_015990:exon1:c.G270A:p.Q90Q,KLHL5:NM_199039:exon1:c.G270A:p.Q90Q,KLHL5:NM_001007075:exon2:c.G132A:p.Q44Q",NA,NA,NA,NA,NA,NA
chr4,39839591,39839591,C,T,R010_S,PDS5A,Missense_Mutation,NM_001100399,exon32,c.G3895A,p.A1299T,SNP,SNVindel,exonic,PDS5A,NA,nonsynonymous SNV,PDS5A:NM_001100399:exon32:c.G3895A:p.A1299T,D,D,D,.,N,T
chr4,40356364,40356364,G,A,R010_S,CHRNA9,Missense_Mutation,NM_017581,exon5,c.G1267A,p.V423M,SNP,SNVindel,exonic,CHRNA9,NA,nonsynonymous SNV,CHRNA9:NM_017581:exon5:c.G1267A:p.V423M,T,N,N,D,N,T
chr4,40895314,40895314,C,T,R010_S,APBB2,Missense_Mutation,NM_001330658,exon9,c.G1303A,p.D435N,SNP,SNVindel,exonic,APBB2,NA,nonsynonymous SNV,"APBB2:NM_001330658:exon9:c.G1303A:p.D435N,APBB2:NM_001330656:exon10:c.G1303A:p.D435N,APBB2:NM_173075:exon10:c.G1303A:p.D435N,APBB2:NM_001166050:exon11:c.G1366A:p.D456N,APBB2:NM_004307:exon11:c.G1369A:p.D457N",T,D,D,T,N,T
chr4,42072697,42072697,C,T,R010_S,SLC30A9,Silent,NM_006345,exon15,c.C1407T,p.D469D,SNP,SNVindel,exonic,SLC30A9,NA,synonymous SNV,SLC30A9:NM_006345:exon15:c.C1407T:p.D469D,NA,NA,NA,NA,NA,NA
chr4,42416711,42416711,G,A,R010_S,ATP8A1,Silent,NM_001105529,exon35,c.C3285T,p.L1095L,SNP,SNVindel,exonic,ATP8A1,NA,synonymous SNV,"ATP8A1:NM_001105529:exon35:c.C3285T:p.L1095L,ATP8A1:NM_006095:exon36:c.C3330T:p.L1110L",NA,NA,NA,NA,NA,NA
chr4,44449656,44449656,G,A,R010_S,KCTD8,Silent,NM_198353,exon1,c.C885T,p.S295S,SNP,SNVindel,exonic,KCTD8,NA,synonymous SNV,KCTD8:NM_198353:exon1:c.C885T:p.S295S,NA,NA,NA,NA,NA,NA
chr4,48027155,48027155,G,A,R010_S,NIPAL1,Silent,NM_207330,exon2,c.G117A,p.L39L,SNP,SNVindel,exonic,NIPAL1,NA,synonymous SNV,NIPAL1:NM_207330:exon2:c.G117A:p.L39L,NA,NA,NA,NA,NA,NA
chr4,52943010,52943010,C,T,R010_S,SPATA18,Missense_Mutation,NM_001346103,exon3,c.C149T,p.A50V,SNP,SNVindel,exonic,SPATA18,NA,nonsynonymous SNV,"SPATA18:NM_001346103:exon3:c.C149T:p.A50V,SPATA18:NM_001346102:exon5:c.C413T:p.A138V,SPATA18:NM_001297608:exon6:c.C728T:p.A243V,SPATA18:NM_145263:exon7:c.C824T:p.A275V",T,N,N,T,N,T
chr4,55131142,55131142,G,A,R010_S,PDGFRA,Missense_Mutation,NM_001347827,exon5,c.G685A,p.E229K,SNP,SNVindel,exonic,PDGFRA,NA,nonsynonymous SNV,"PDGFRA:NM_001347827:exon5:c.G685A:p.E229K,PDGFRA:NM_001347829:exon5:c.G685A:p.E229K,PDGFRA:NM_001347830:exon5:c.G724A:p.E242K,PDGFRA:NM_006206:exon5:c.G685A:p.E229K,PDGFRA:NM_001347828:exon6:c.G760A:p.E254K",D,U,D,T,D,D
chr4,55948194,55948194,G,A,R010_S,KDR,Silent,NM_002253,exon29,c.C3777T,p.D1259D,SNP,SNVindel,exonic,KDR,NA,synonymous SNV,KDR:NM_002253:exon29:c.C3777T:p.D1259D,NA,NA,NA,NA,NA,NA
chr4,57180275,57180275,G,A,R010_S,KIAA1211,Missense_Mutation,NM_020722,exon8,c.G607A,p.D203N,SNP,SNVindel,exonic,KIAA1211,NA,nonsynonymous SNV,KIAA1211:NM_020722:exon8:c.G607A:p.D203N,D,.,N,T,N,T
chr4,57366836,57366836,G,A,R010_S,SRP72,Missense_Mutation,NM_001267722,exon16,c.G1630A,p.A544T,SNP,SNVindel,exonic,SRP72,NA,nonsynonymous SNV,"SRP72:NM_001267722:exon16:c.G1630A:p.A544T,SRP72:NM_006947:exon18:c.G1813A:p.A605T",T,D,D,T,N,T
chr4,57798196,57798196,G,A,R010_S,REST,Missense_Mutation,NM_001193508,exon4,c.G3172A,p.G1058R,SNP,SNVindel,exonic,REST,NA,nonsynonymous SNV,"REST:NM_001193508:exon4:c.G3172A:p.G1058R,REST:NM_001363453:exon4:c.G3172A:p.G1058R,REST:NM_005612:exon4:c.G3172A:p.G1058R",D,N,D,T,N,T
chr4,57830656,57830656,G,A,R010_S,NOA1,Missense_Mutation,NM_032313,exon6,c.C1801T,p.P601S,SNP,SNVindel,exonic,NOA1,NA,nonsynonymous SNV,NOA1:NM_032313:exon6:c.C1801T:p.P601S,D,D,D,T,D,T
chr4,68547857,68547857,C,T,R010_S,UBA6,Missense_Mutation,NM_018227,exon3,c.G209A,p.G70D,SNP,SNVindel,exonic,UBA6,NA,nonsynonymous SNV,UBA6:NM_018227:exon3:c.G209A:p.G70D,D,D,D,D,D,D
chr4,70361009,70361009,G,A,R010_S,UGT2B4,Missense_Mutation,NM_001297615,exon1,c.C571T,p.P191S,SNP,SNVindel,exonic,UGT2B4,NA,nonsynonymous SNV,"UGT2B4:NM_001297615:exon1:c.C571T:p.P191S,UGT2B4:NM_021139:exon1:c.C571T:p.P191S,UGT2B4:NM_001297616:exon2:c.C163T:p.P55S",T,U,N,T,D,T
chr4,71570996,71570996,G,A,R010_S,RUFY3,Missense_Mutation,NM_001130709,exon1,c.G343A,p.G115S,SNP,SNVindel,exonic,RUFY3,NA,nonsynonymous SNV,RUFY3:NM_001130709:exon1:c.G343A:p.G115S,T,.,N,T,N,T
chr4,71654651,71654651,C,T,R010_S,RUFY3,Silent,NM_001037442,exon11,c.C1200T,p.D400D,SNP,SNVindel,exonic,RUFY3,NA,synonymous SNV,"RUFY3:NM_001037442:exon11:c.C1200T:p.D400D,RUFY3:NM_001130709:exon11:c.C1380T:p.D460D,RUFY3:NM_014961:exon11:c.C1200T:p.D400D,RUFY3:NM_001291993:exon12:c.C1041T:p.D347D,RUFY3:NM_001291994:exon12:c.C1254T:p.D418D,RUFY3:NM_001345840:exon12:c.C1041T:p.D347D",NA,NA,NA,NA,NA,NA
chr4,71705298,71705298,C,T,R010_S,GRSF1,Missense_Mutation,NM_002092,exon1,c.G247A,p.A83T,SNP,SNVindel,exonic,GRSF1,NA,nonsynonymous SNV,GRSF1:NM_002092:exon1:c.G247A:p.A83T,T,.,N,T,N,T
chr4,73013435,73013435,G,A,R010_S,NPFFR2,Missense_Mutation,NM_004885,exon4,c.G1475A,p.G492E,SNP,SNVindel,exonic,NPFFR2,NA,nonsynonymous SNV,"NPFFR2:NM_004885:exon4:c.G1475A:p.G492E,NPFFR2:NM_053036:exon4:c.G1169A:p.G390E,NPFFR2:NM_001144756:exon5:c.G1178A:p.G393E",T,N,N,T,N,T
chr4,73985997,73985997,C,T,R010_S,ANKRD17,Missense_Mutation,NM_198889,exon20,c.G3154A,p.V1052I,SNP,SNVindel,exonic,ANKRD17,NA,nonsynonymous SNV,"ANKRD17:NM_198889:exon20:c.G3154A:p.V1052I,ANKRD17:NM_001286771:exon21:c.G3568A:p.V1190I,ANKRD17:NM_015574:exon21:c.G3904A:p.V1302I,ANKRD17:NM_032217:exon21:c.G3907A:p.V1303I",D,D,D,T,N,T
chr4,74005967,74005967,G,A,R010_S,ANKRD17,Missense_Mutation,NM_001286771,exon15,c.C2027T,p.P676L,SNP,SNVindel,exonic,ANKRD17,NA,nonsynonymous SNV,"ANKRD17:NM_001286771:exon15:c.C2027T:p.P676L,ANKRD17:NM_015574:exon15:c.C2366T:p.P789L,ANKRD17:NM_032217:exon15:c.C2366T:p.P789L",T,D,D,T,N,T
chr4,74607295,74607295,G,A,R010_S,CXCL8,Missense_Mutation,NM_000584,exon2,c.G101A,p.C34Y,SNP,SNVindel,exonic,CXCL8,NA,nonsynonymous SNV,"CXCL8:NM_000584:exon2:c.G101A:p.C34Y,CXCL8:NM_001354840:exon2:c.G101A:p.C34Y",D,D,D,T,D,T
chr4,74964777,74964777,G,A,R010_S,CXCL2,Silent,NM_002089,exon1,c.C61T,p.L21L,SNP,SNVindel,exonic,CXCL2,NA,synonymous SNV,CXCL2:NM_002089:exon1:c.C61T:p.L21L,NA,NA,NA,NA,NA,NA
chr4,75065658,75065658,G,A,R010_S,MTHFD2L,Missense_Mutation,NM_001144978,exon4,c.G599A,p.R200K,SNP,SNVindel,exonic,MTHFD2L,NA,nonsynonymous SNV,"MTHFD2L:NM_001144978:exon4:c.G599A:p.R200K,MTHFD2L:NM_001004346:exon5:c.G425A:p.R142K,MTHFD2L:NM_001351311:exon5:c.G425A:p.R142K,MTHFD2L:NM_001351310:exon6:c.G425A:p.R142K,MTHFD2L:NM_001351314:exon6:c.G218A:p.R73K",T,N,D,T,D,T
chr4,76926034,76926034,C,T,R010_S,CXCL9,Silent,NM_002416,exon3,c.G204A,p.K68K,SNP,SNVindel,exonic,CXCL9,NA,synonymous SNV,CXCL9:NM_002416:exon3:c.G204A:p.K68K,NA,NA,NA,NA,NA,NA
chr4,77003563,77003563,G,A,R010_S,ART3,Missense_Mutation,NM_001130016,exon3,c.G656A,p.S219N,SNP,SNVindel,exonic,ART3,NA,nonsynonymous SNV,"ART3:NM_001130016:exon3:c.G656A:p.S219N,ART3:NM_001130017:exon3:c.G656A:p.S219N,ART3:NM_001179:exon3:c.G656A:p.S219N",T,N,N,T,N,T
chr4,77045818,77045818,G,A,R010_S,NUP54,Missense_Mutation,NM_001278603,exon8,c.C1004T,p.S335F,SNP,SNVindel,exonic,NUP54,NA,nonsynonymous SNV,"NUP54:NM_001278603:exon8:c.C1004T:p.S335F,NUP54:NM_017426:exon9:c.C1148T:p.S383F",D,D,D,.,D,T
chr4,77184939,77184939,G,A,R010_S,FAM47E,Missense_Mutation,NM_001136570,exon3,c.G503A,p.G168E,SNP,SNVindel,exonic,FAM47E;FAM47E-STBD1,NA,nonsynonymous SNV,"FAM47E:NM_001136570:exon3:c.G503A:p.G168E,FAM47E:NM_001242936:exon3:c.G164A:p.G55E,FAM47E-STBD1:NM_001242939:exon3:c.G503A:p.G168E",T,N,N,T,N,T
chr4,77357273,77357273,G,A,R010_S,SHROOM3,Missense_Mutation,NM_020859,exon1,c.G68A,p.G23E,SNP,SNVindel,exonic,SHROOM3,NA,nonsynonymous SNV,SHROOM3:NM_020859:exon1:c.G68A:p.G23E,T,N,N,T,N,T
chr4,77917046,77917046,G,A,R010_S,SEPTIN11,Silent,NM_001306147,exon3,c.G12A,p.R4R,SNP,SNVindel,exonic,SEPTIN11,NA,synonymous SNV,SEPTIN11:NM_001306147:exon3:c.G12A:p.R4R,NA,NA,NA,NA,NA,NA
chr4,79360081,79360081,G,A,R010_S,FRAS1,Missense_Mutation,NM_001166133,exon40,c.G5392A,p.G1798S,SNP,SNVindel,exonic,FRAS1,NA,nonsynonymous SNV,"FRAS1:NM_001166133:exon40:c.G5392A:p.G1798S,FRAS1:NM_025074:exon40:c.G5392A:p.G1798S",T,N,N,T,N,T
chr4,83796893,83796893,C,T,R010_S,SEC31A,Missense_Mutation,NM_001191049,exon4,c.G470A,p.G157E,SNP,SNVindel,exonic,SEC31A,NA,nonsynonymous SNV,"SEC31A:NM_001191049:exon4:c.G470A:p.G157E,SEC31A:NM_001077206:exon5:c.G485A:p.G162E,SEC31A:NM_001077207:exon5:c.G485A:p.G162E,SEC31A:NM_001077208:exon5:c.G485A:p.G162E,SEC31A:NM_001300744:exon5:c.G485A:p.G162E,SEC31A:NM_001300745:exon5:c.G485A:p.G162E,SEC31A:NM_001318119:exon5:c.G485A:p.G162E,SEC31A:NM_016211:exon5:c.G485A:p.G162E,SEC31A:NM_001318120:exon7:c.G485A:p.G162E",D,D,D,T,D,D
chr4,83799977,83799977,G,A,R010_S,SEC31A,Missense_Mutation,NM_001191049,exon3,c.C293T,p.P98L,SNP,SNVindel,exonic,SEC31A,NA,nonsynonymous SNV,"SEC31A:NM_001191049:exon3:c.C293T:p.P98L,SEC31A:NM_001077206:exon4:c.C308T:p.P103L,SEC31A:NM_001077207:exon4:c.C308T:p.P103L,SEC31A:NM_001077208:exon4:c.C308T:p.P103L,SEC31A:NM_001300744:exon4:c.C308T:p.P103L,SEC31A:NM_001300745:exon4:c.C308T:p.P103L,SEC31A:NM_001318119:exon4:c.C308T:p.P103L,SEC31A:NM_016211:exon4:c.C308T:p.P103L,SEC31A:NM_001318120:exon6:c.C308T:p.P103L",T,D,D,T,D,T
chr4,85625519,85625519,G,A,R010_S,WDFY3,Missense_Mutation,NM_014991,exon55,c.C8414T,p.P2805L,SNP,SNVindel,exonic,WDFY3,NA,nonsynonymous SNV,WDFY3:NM_014991:exon55:c.C8414T:p.P2805L,D,D,D,D,D,D
chr4,89199639,89199639,G,A,R010_S,PPM1K,Missense_Mutation,NM_152542,exon2,c.C97T,p.R33W,SNP,SNVindel,exonic,PPM1K,NA,nonsynonymous SNV,PPM1K:NM_152542:exon2:c.C97T:p.R33W,T,N,N,T,N,T
chr4,89625716,89625716,G,A,R010_S,HERC3,Missense_Mutation,NM_001271602,exon24,c.G2545A,p.E849K,SNP,SNVindel,exonic,HERC3,NA,nonsynonymous SNV,"HERC3:NM_001271602:exon24:c.G2545A:p.E849K,HERC3:NM_014606:exon25:c.G2899A:p.E967K",D,D,D,T,D,T
chr4,90856327,90856327,G,A,R010_S,MMRN1,Missense_Mutation,NM_007351,exon6,c.G1496A,p.S499N,SNP,SNVindel,exonic,MMRN1,NA,nonsynonymous SNV,"MMRN1:NM_007351:exon6:c.G1496A:p.S499N,MMRN1:NM_001371403:exon7:c.G1496A:p.S499N",T,N,N,T,N,T
chr4,92520078,92520078,C,T,R010_S,CCSER1,Missense_Mutation,NM_001145065,exon11,c.C2573T,p.T858I,SNP,SNVindel,exonic,CCSER1,NA,nonsynonymous SNV,CCSER1:NM_001145065:exon11:c.C2573T:p.T858I,D,.,N,T,N,T
chr4,95204441,95204441,G,A,R010_S,SMARCAD1,Missense_Mutation,NM_001254949,exon14,c.G1606A,p.V536I,SNP,SNVindel,exonic,SMARCAD1,NA,nonsynonymous SNV,"SMARCAD1:NM_001254949:exon14:c.G1606A:p.V536I,SMARCAD1:NM_001128429:exon22:c.G2902A:p.V968I,SMARCAD1:NM_001128430:exon22:c.G2902A:p.V968I,SMARCAD1:NM_020159:exon22:c.G2896A:p.V966I",D,D,D,T,N,T
chr4,96762460,96762460,G,A,R010_S,PDHA2,Missense_Mutation,NM_005390,exon1,c.G1159A,p.V387I,SNP,SNVindel,exonic,PDHA2,NA,nonsynonymous SNV,PDHA2:NM_005390:exon1:c.G1159A:p.V387I,T,N,N,D,N,T
chr4,99407901,99407901,G,A,R010_S,TSPAN5,Silent,NM_005723,exon3,c.C267T,p.F89F,SNP,SNVindel,exonic,TSPAN5,NA,synonymous SNV,TSPAN5:NM_005723:exon3:c.C267T:p.F89F,NA,NA,NA,NA,NA,NA
chr4,99969953,99969953,C,T,R010_S,METAP1,Missense_Mutation,NM_015143,exon9,c.C857T,p.S286L,SNP,SNVindel,exonic,METAP1,NA,nonsynonymous SNV,METAP1:NM_015143:exon9:c.C857T:p.S286L,D,D,D,T,D,D
chr4,100463228,100463228,C,T,R010_S,C4orf17,Missense_Mutation,NM_032149,exon9,c.C1042T,p.P348S,SNP,SNVindel,exonic,C4orf17,NA,nonsynonymous SNV,C4orf17:NM_032149:exon9:c.C1042T:p.P348S,T,N,N,T,N,T
chr4,103610818,103610818,C,T,R010_S,MANBA,Nonsense_Mutation,NM_005908,exon7,c.G873A,p.W291X,SNP,SNVindel,exonic,MANBA,NA,stopgain,MANBA:NM_005908:exon7:c.G873A:p.W291X,.,D,A,.,.,.
chr4,105411961,105411961,G,A,R010_S,CXXC4,Silent,NM_025212,exon2,c.C999T,p.H333H,SNP,SNVindel,exonic,CXXC4,NA,synonymous SNV,CXXC4:NM_025212:exon2:c.C999T:p.H333H,NA,NA,NA,NA,NA,NA
chr4,106156179,106156179,G,A,R010_S,TET2,Silent,NM_001127208,exon3,c.G1080A,p.L360L,SNP,SNVindel,exonic,TET2,NA,synonymous SNV,"TET2:NM_001127208:exon3:c.G1080A:p.L360L,TET2:NM_017628:exon3:c.G1080A:p.L360L",NA,NA,NA,NA,NA,NA
chr4,106640399,106640399,G,A,R010_S,GSTCD,Silent,NM_001031720,exon3,c.G609A,p.Q203Q,SNP,SNVindel,exonic,GSTCD,NA,synonymous SNV,"GSTCD:NM_001031720:exon3:c.G609A:p.Q203Q,GSTCD:NM_001370181:exon3:c.G609A:p.Q203Q,GSTCD:NM_024751:exon3:c.G348A:p.Q116Q",NA,NA,NA,NA,NA,NA
chr4,107845847,107845847,G,A,R010_S,DKK2,Silent,NM_014421,exon3,c.C384T,p.I128I,SNP,SNVindel,exonic,DKK2,NA,synonymous SNV,DKK2:NM_014421:exon3:c.C384T:p.I128I,NA,NA,NA,NA,NA,NA
chr4,108866633,108866633,G,A,R010_S,CYP2U1,Missense_Mutation,NM_183075,exon2,c.G998A,p.S333N,SNP,SNVindel,exonic,CYP2U1,NA,nonsynonymous SNV,CYP2U1:NM_183075:exon2:c.G998A:p.S333N,T,N,N,T,N,T
chr4,110355036,110355036,C,T,R010_S,SEC24B,Missense_Mutation,NM_001042734,exon1,c.C11T,p.P4L,SNP,SNVindel,exonic,SEC24B,NA,nonsynonymous SNV,"SEC24B:NM_001042734:exon1:c.C11T:p.P4L,SEC24B:NM_001300813:exon1:c.C11T:p.P4L,SEC24B:NM_001318085:exon1:c.C11T:p.P4L,SEC24B:NM_001318086:exon1:c.C11T:p.P4L,SEC24B:NM_006323:exon1:c.C11T:p.P4L",D,.,D,D,N,D
chr4,110402924,110402924,G,A,R010_S,SEC24B,Silent,NM_001318085,exon4,c.G1152A,p.E384E,SNP,SNVindel,exonic,SEC24B,NA,synonymous SNV,"SEC24B:NM_001318085:exon4:c.G1152A:p.E384E,SEC24B:NM_006323:exon4:c.G1152A:p.E384E,SEC24B:NM_001300813:exon5:c.G1245A:p.E415E",NA,NA,NA,NA,NA,NA
chr4,110615706,110615706,C,T,R010_S,CASP6,Missense_Mutation,NM_032992,exon2,c.G191A,p.G64E,SNP,SNVindel,exonic,CASP6,NA,nonsynonymous SNV,"CASP6:NM_032992:exon2:c.G191A:p.G64E,CASP6:NM_001226:exon5:c.G458A:p.G153E",T,N,D,T,D,T
chr4,110763683,110763683,G,A,R010_S,RRH,Missense_Mutation,NM_006583,exon6,c.G779A,p.C260Y,SNP,SNVindel,exonic,RRH,NA,nonsynonymous SNV,RRH:NM_006583:exon6:c.G779A:p.C260Y,D,D,D,T,D,T
chr4,111480878,111480878,G,A,R010_S,ENPEP,Nonsense_Mutation,NM_001977,exon19,c.G2718A,p.W906X,SNP,SNVindel,exonic,ENPEP,NA,stopgain,ENPEP:NM_001977:exon19:c.G2718A:p.W906X,.,D,D,.,.,.
chr4,113199329,113199329,C,T,R010_S,TIFA,Missense_Mutation,NM_052864,exon2,c.G244A,p.V82I,SNP,SNVindel,exonic,TIFA,NA,nonsynonymous SNV,TIFA:NM_052864:exon2:c.G244A:p.V82I,T,N,N,T,N,T
chr4,113469504,113469504,G,A,R010_S,ZGRF1,Silent,NM_001350397,exon22,c.C5205T,p.C1735C,SNP,SNVindel,exonic,ZGRF1,NA,synonymous SNV,"ZGRF1:NM_001350397:exon22:c.C5205T:p.C1735C,ZGRF1:NM_018392:exon23:c.C5379T:p.C1793C",NA,NA,NA,NA,NA,NA
chr4,114163301,114163301,G,A,R010_S,ANK2,Missense_Mutation,NM_001148,exon9,c.G827A,p.R276K,SNP,SNVindel,exonic,ANK2,NA,nonsynonymous SNV,"ANK2:NM_001148:exon9:c.G827A:p.R276K,ANK2:NM_001354225:exon9:c.G827A:p.R276K,ANK2:NM_001354228:exon9:c.G827A:p.R276K,ANK2:NM_001354230:exon9:c.G872A:p.R291K,ANK2:NM_001354231:exon9:c.G872A:p.R291K,ANK2:NM_001354232:exon9:c.G827A:p.R276K,ANK2:NM_001354235:exon9:c.G827A:p.R276K,ANK2:NM_001354236:exon9:c.G827A:p.R276K,ANK2:NM_001354237:exon9:c.G872A:p.R291K,ANK2:NM_001354240:exon9:c.G872A:p.R291K,ANK2:NM_001354242:exon9:c.G872A:p.R291K,ANK2:NM_001354245:exon9:c.G827A:p.R276K,ANK2:NM_001354246:exon9:c.G827A:p.R276K,ANK2:NM_001354249:exon9:c.G740A:p.R247K,ANK2:NM_001354258:exon9:c.G827A:p.R276K,ANK2:NM_001354260:exon9:c.G740A:p.R247K,ANK2:NM_001354264:exon9:c.G740A:p.R247K,ANK2:NM_001354265:exon9:c.G827A:p.R276K,ANK2:NM_001354266:exon9:c.G740A:p.R247K,ANK2:NM_001354267:exon9:c.G740A:p.R247K,ANK2:NM_001354268:exon9:c.G827A:p.R276K,ANK2:NM_001354269:exon9:c.G815A:p.R272K,ANK2:NM_001354271:exon9:c.G740A:p.R247K,ANK2:NM_001354273:exon9:c.G827A:p.R276K,ANK2:NM_001354274:exon9:c.G740A:p.R247K,ANK2:NM_001354276:exon9:c.G740A:p.R247K,ANK2:NM_001354277:exon9:c.G740A:p.R247K,ANK2:NM_020977:exon9:c.G827A:p.R276K,ANK2:NM_001127493:exon10:c.G764A:p.R255K,ANK2:NM_001354239:exon10:c.G764A:p.R255K,ANK2:NM_001354241:exon10:c.G872A:p.R291K,ANK2:NM_001354243:exon10:c.G764A:p.R255K,ANK2:NM_001354244:exon10:c.G764A:p.R255K,ANK2:NM_001354252:exon10:c.G764A:p.R255K,ANK2:NM_001354253:exon10:c.G764A:p.R255K,ANK2:NM_001354254:exon10:c.G764A:p.R255K,ANK2:NM_001354255:exon10:c.G764A:p.R255K,ANK2:NM_001354256:exon10:c.G764A:p.R255K,ANK2:NM_001354257:exon10:c.G764A:p.R255K,ANK2:NM_001354261:exon10:c.G785A:p.R262K,ANK2:NM_001354262:exon10:c.G764A:p.R255K,ANK2:NM_001354270:exon10:c.G764A:p.R255K,ANK2:NM_001354272:exon10:c.G764A:p.R255K,ANK2:NM_001354275:exon10:c.G764A:p.R255K",T,D,D,T,D,T
chr4,114275089,114275089,C,T,R010_S,ANK2,Missense_Mutation,NM_001148,exon38,c.C5315T,p.A1772V,SNP,SNVindel,exonic,ANK2,NA,nonsynonymous SNV,ANK2:NM_001148:exon38:c.C5315T:p.A1772V,T,D,D,T,N,T
chr4,114279694,114279694,G,A,R010_S,ANK2,Missense_Mutation,NM_001148,exon38,c.G9920A,p.R3307K,SNP,SNVindel,exonic,ANK2,NA,nonsynonymous SNV,ANK2:NM_001148:exon38:c.G9920A:p.R3307K,T,N,D,T,N,T
chr4,114426136,114426136,G,A,R010_S,CAMK2D,Missense_Mutation,NM_001321567,exon14,c.C1040T,p.A347V,SNP,SNVindel,exonic,CAMK2D,NA,nonsynonymous SNV,"CAMK2D:NM_001321567:exon14:c.C1040T:p.A347V,CAMK2D:NM_001321569:exon14:c.C1040T:p.A347V,CAMK2D:NM_001321570:exon14:c.C1040T:p.A347V,CAMK2D:NM_001321571:exon14:c.C1040T:p.A347V,CAMK2D:NM_001321572:exon14:c.C1040T:p.A347V,CAMK2D:NM_001321579:exon14:c.C1040T:p.A347V,CAMK2D:NM_001321580:exon14:c.C1040T:p.A347V,CAMK2D:NM_001321586:exon14:c.C1037T:p.A346V",T,.,D,T,N,T
chr4,115858614,115858614,G,A,R010_S,NDST4,Missense_Mutation,NM_022569,exon5,c.C1267T,p.H423Y,SNP,SNVindel,exonic,NDST4,NA,nonsynonymous SNV,NDST4:NM_022569:exon5:c.C1267T:p.H423Y,D,D,D,T,D,T
chr4,119673167,119673167,C,T,R010_S,SEC24D,Missense_Mutation,NM_001318066,exon13,c.G1694A,p.G565D,SNP,SNVindel,exonic,SEC24D,NA,nonsynonymous SNV,"SEC24D:NM_001318066:exon13:c.G1694A:p.G565D,SEC24D:NM_014822:exon13:c.G1691A:p.G564D",D,D,D,T,D,D
chr4,119736738,119736738,G,A,R010_S,SEC24D,Missense_Mutation,NM_001318066,exon5,c.C541T,p.P181S,SNP,SNVindel,exonic,SEC24D,NA,nonsynonymous SNV,"SEC24D:NM_001318066:exon5:c.C541T:p.P181S,SEC24D:NM_014822:exon5:c.C541T:p.P181S",T,N,D,T,N,T
chr4,119951872,119951872,C,T,R010_S,SYNPO2,Missense_Mutation,NM_001128933,exon4,c.C1942T,p.P648S,SNP,SNVindel,exonic,SYNPO2,NA,nonsynonymous SNV,"SYNPO2:NM_001128933:exon4:c.C1942T:p.P648S,SYNPO2:NM_001128934:exon4:c.C1942T:p.P648S,SYNPO2:NM_001286754:exon4:c.C1849T:p.P617S,SYNPO2:NM_133477:exon4:c.C1942T:p.P648S",T,D,D,T,N,T
chr4,121958022,121958022,G,A,R010_S,NDNF,Silent,NM_024574,exon4,c.C1104T,p.V368V,SNP,SNVindel,exonic,NDNF,NA,synonymous SNV,NDNF:NM_024574:exon4:c.C1104T:p.V368V,NA,NA,NA,NA,NA,NA
chr4,122301541,122301541,C,T,R010_S,QRFPR,Missense_Mutation,NM_198179,exon1,c.G262A,p.A88T,SNP,SNVindel,exonic,QRFPR,NA,nonsynonymous SNV,QRFPR:NM_198179:exon1:c.G262A:p.A88T,D,D,D,T,D,D
chr4,122723880,122723880,A,G,R010_S,EXOSC9,Silent,NM_001034194,exon3,c.A213G,p.A71A,SNP,SNVindel,exonic,EXOSC9,NA,synonymous SNV,"EXOSC9:NM_001034194:exon3:c.A213G:p.A71A,EXOSC9:NM_005033:exon3:c.A213G:p.A71A",NA,NA,NA,NA,NA,NA
chr4,123147936,123147936,G,A,R010_S,KIAA1109,Silent,NM_015312,exon22,c.G2868A,p.P956P,SNP,SNVindel,exonic,KIAA1109,NA,synonymous SNV,KIAA1109:NM_015312:exon22:c.G2868A:p.P956P,NA,NA,NA,NA,NA,NA
chr4,123229235,123229235,G,A,R010_S,KIAA1109,Missense_Mutation,NM_015312,exon56,c.G9973A,p.A3325T,SNP,SNVindel,exonic,KIAA1109,NA,nonsynonymous SNV,KIAA1109:NM_015312:exon56:c.G9973A:p.A3325T,T,N,D,T,N,T
chr4,126239789,126239789,G,A,R010_S,FAT4,Silent,NM_001291285,exon1,c.G2223A,p.Q741Q,SNP,SNVindel,exonic,FAT4,NA,synonymous SNV,"FAT4:NM_001291285:exon1:c.G2223A:p.Q741Q,FAT4:NM_001291303:exon1:c.G2223A:p.Q741Q,FAT4:NM_024582:exon1:c.G2223A:p.Q741Q",NA,NA,NA,NA,NA,NA
chr4,138442235,138442235,C,T,R010_S,PCDH18,Missense_Mutation,NM_001300828,exon4,c.G3353A,p.S1118N,SNP,SNVindel,exonic,PCDH18,NA,nonsynonymous SNV,"PCDH18:NM_001300828:exon4:c.G3353A:p.S1118N,PCDH18:NM_019035:exon4:c.G3356A:p.S1119N",D,D,D,T,N,T
chr4,140264003,140264003,G,A,R010_S,NAA15,Silent,NM_057175,exon5,c.G426A,p.Q142Q,SNP,SNVindel,exonic,NAA15,NA,synonymous SNV,NAA15:NM_057175:exon5:c.G426A:p.Q142Q,NA,NA,NA,NA,NA,NA
chr4,144464803,144464803,C,T,R010_S,SMARCA5,Missense_Mutation,NM_003601,exon15,c.C2045T,p.A682V,SNP,SNVindel,exonic,SMARCA5,NA,nonsynonymous SNV,SMARCA5:NM_003601:exon15:c.C2045T:p.A682V,D,D,D,D,N,T
chr4,148968073,148968073,C,T,R010_S,ARHGAP10,Missense_Mutation,NM_024605,exon20,c.C1898T,p.T633I,SNP,SNVindel,exonic,ARHGAP10,NA,nonsynonymous SNV,ARHGAP10:NM_024605:exon20:c.C1898T:p.T633I,T,N,D,T,N,T
chr4,149356601,149356601,C,T,R010_S,NR3C2,Missense_Mutation,NM_000901,exon2,c.G1412A,p.G471E,SNP,SNVindel,exonic,NR3C2,NA,nonsynonymous SNV,"NR3C2:NM_000901:exon2:c.G1412A:p.G471E,NR3C2:NM_001166104:exon2:c.G1412A:p.G471E,NR3C2:NM_001354819:exon2:c.G1412A:p.G471E",D,D,D,D,N,D
chr4,152203446,152203446,C,T,R010_S,PRSS48,Missense_Mutation,NM_183375,exon3,c.C362T,p.S121F,SNP,SNVindel,exonic,PRSS48,NA,nonsynonymous SNV,PRSS48:NM_183375:exon3:c.C362T:p.S121F,T,N,N,D,D,T
chr4,152570708,152570708,G,A,R010_S,FAM160A1,Nonsense_Mutation,NM_001348694,exon10,c.G1515A,p.W505X,SNP,SNVindel,exonic,FAM160A1,NA,stopgain,"FAM160A1:NM_001348694:exon10:c.G1515A:p.W505X,FAM160A1:NM_001109977:exon11:c.G1515A:p.W505X",.,.,A,.,.,.
chr4,152577549,152577549,G,A,R010_S,FAM160A1,Missense_Mutation,NM_001348694,exon11,c.G2717A,p.R906H,SNP,SNVindel,exonic,FAM160A1,NA,nonsynonymous SNV,"FAM160A1:NM_001348694:exon11:c.G2717A:p.R906H,FAM160A1:NM_001109977:exon12:c.G2717A:p.R906H",D,.,D,T,D,T
chr4,152629213,152629213,G,A,R010_S,GATB,Silent,NM_001363341,exon6,c.C804T,p.H268H,SNP,SNVindel,exonic,GATB,NA,synonymous SNV,"GATB:NM_001363341:exon6:c.C804T:p.H268H,GATB:NM_004564:exon6:c.C804T:p.H268H",NA,NA,NA,NA,NA,NA
chr4,152679941,152679941,G,A,R010_S,GATB,Silent,NM_001363341,exon2,c.C310T,p.L104L,SNP,SNVindel,exonic,GATB,NA,synonymous SNV,"GATB:NM_001363341:exon2:c.C310T:p.L104L,GATB:NM_004564:exon2:c.C310T:p.L104L",NA,NA,NA,NA,NA,NA
chr4,155163836,155163836,C,T,R010_S,DCHS2,Missense_Mutation,NM_001358235,exon17,c.G7030A,p.A2344T,SNP,SNVindel,exonic,DCHS2,NA,nonsynonymous SNV,DCHS2:NM_001358235:exon17:c.G7030A:p.A2344T,.,N,N,.,.,T
chr4,155411392,155411392,G,A,R010_S,DCHS2,Silent,NM_001142552,exon1,c.C1116T,p.D372D,SNP,SNVindel,exonic,DCHS2,NA,synonymous SNV,"DCHS2:NM_001142552:exon1:c.C1116T:p.D372D,DCHS2:NM_001358235:exon1:c.C1116T:p.D372D",NA,NA,NA,NA,NA,NA
chr4,155491717,155491717,G,A,R010_S,FGB,Missense_Mutation,NM_001184741,exon8,c.G1214A,p.G405D,SNP,SNVindel,exonic,FGB,NA,nonsynonymous SNV,"FGB:NM_001184741:exon8:c.G1214A:p.G405D,FGB:NM_005141:exon8:c.G1391A:p.G464D",D,D,D,D,D,D
chr4,155511810,155511810,G,A,R010_S,FGA,Silent,NM_000508,exon1,c.C30T,p.V10V,SNP,SNVindel,exonic,FGA,NA,synonymous SNV,"FGA:NM_000508:exon1:c.C30T:p.V10V,FGA:NM_021871:exon1:c.C30T:p.V10V",NA,NA,NA,NA,NA,NA
chr4,156680943,156680943,G,A,R010_S,GUCY1B1,Missense_Mutation,NM_000857,exon2,c.G8A,p.G3E,SNP,SNVindel,exonic,GUCY1B1,NA,nonsynonymous SNV,"GUCY1B1:NM_000857:exon2:c.G8A:p.G3E,GUCY1B1:NM_001291951:exon2:c.G8A:p.G3E,GUCY1B1:NM_001291954:exon2:c.G8A:p.G3E",D,D,D,D,D,D
chr4,158142243,158142243,G,A,R010_S,GRIA2,Missense_Mutation,NM_000826,exon1,c.G49A,p.G17R,SNP,SNVindel,exonic,GRIA2,NA,nonsynonymous SNV,"GRIA2:NM_000826:exon1:c.G49A:p.G17R,GRIA2:NM_001083619:exon1:c.G49A:p.G17R",D,D,D,T,D,T
chr4,164394130,164394130,G,A,R010_S,TKTL2,Missense_Mutation,NM_032136,exon1,c.C757T,p.P253S,SNP,SNVindel,exonic,TKTL2,NA,nonsynonymous SNV,TKTL2:NM_032136:exon1:c.C757T:p.P253S,T,N,D,T,D,T
chr4,165962219,165962219,G,A,R010_S,TRIM60,Missense_Mutation,NM_152620,exon3,c.G995A,p.R332K,SNP,SNVindel,exonic,TRIM60,NA,nonsynonymous SNV,"TRIM60:NM_152620:exon3:c.G995A:p.R332K,TRIM60:NM_001258025:exon4:c.G995A:p.R332K",T,N,N,T,N,T
chr4,174450405,174450405,C,T,R010_S,HAND2,Silent,NM_021973,exon1,c.G36A,p.V12V,SNP,SNVindel,exonic,HAND2,NA,synonymous SNV,HAND2:NM_021973:exon1:c.G36A:p.V12V,NA,NA,NA,NA,NA,NA
chr4,175416751,175416751,G,A,R010_S,HPGD,Missense_Mutation,NM_001256306,exon3,c.C242T,p.P81L,SNP,SNVindel,exonic,HPGD,NA,nonsynonymous SNV,"HPGD:NM_001256306:exon3:c.C242T:p.P81L,HPGD:NM_001256307:exon4:c.C83T:p.P28L,HPGD:NM_000860:exon5:c.C446T:p.P149L,HPGD:NM_001145816:exon5:c.C446T:p.P149L,HPGD:NM_001256301:exon5:c.C83T:p.P28L",D,D,D,D,D,D
chr4,184210741,184210741,C,T,R010_S,WWC2,Silent,NM_024949,exon21,c.C3337T,p.L1113L,SNP,SNVindel,exonic,WWC2,NA,synonymous SNV,WWC2:NM_024949:exon21:c.C3337T:p.L1113L,NA,NA,NA,NA,NA,NA
chr4,185678300,185678300,G,A,R010_S,ACSL1,Silent,NM_001286711,exon20,c.C1974T,p.L658L,SNP,SNVindel,exonic,ACSL1,NA,synonymous SNV,"ACSL1:NM_001286711:exon20:c.C1974T:p.L658L,ACSL1:NM_001286708:exon21:c.C2076T:p.L692L,ACSL1:NM_001286710:exon21:c.C2076T:p.L692L,ACSL1:NM_001995:exon21:c.C2076T:p.L692L,ACSL1:NM_001286712:exon22:c.C1563T:p.L521L",NA,NA,NA,NA,NA,NA
chr4,185694279,185694279,G,A,R010_S,ACSL1,Nonsense_Mutation,NM_001286711,exon9,c.C769T,p.R257X,SNP,SNVindel,exonic,ACSL1,NA,stopgain,"ACSL1:NM_001286711:exon9:c.C769T:p.R257X,ACSL1:NM_001286708:exon10:c.C871T:p.R291X,ACSL1:NM_001286710:exon10:c.C871T:p.R291X,ACSL1:NM_001995:exon10:c.C871T:p.R291X,ACSL1:NM_001286712:exon11:c.C358T:p.R120X",.,N,A,.,.,.
chr4,186544159,186544159,G,A,R010_S,SORBS2,Silent,NM_001145674,exon7,c.C2124T,p.D708D,SNP,SNVindel,exonic,SORBS2,NA,synonymous SNV,"SORBS2:NM_001145674:exon7:c.C2124T:p.D708D,SORBS2:NM_021069:exon13:c.C2412T:p.D804D,SORBS2:NM_001270771:exon16:c.C2712T:p.D904D",NA,NA,NA,NA,NA,NA
chr4,186997877,186997877,C,T,R010_S,TLR3,Missense_Mutation,NM_003265,exon2,c.C104T,p.A35V,SNP,SNVindel,exonic,TLR3,NA,nonsynonymous SNV,TLR3:NM_003265:exon2:c.C104T:p.A35V,T,D,D,T,N,T
chr4,187004396,187004396,C,T,R010_S,TLR3,Missense_Mutation,NM_003265,exon4,c.C1556T,p.A519V,SNP,SNVindel,exonic,TLR3,NA,nonsynonymous SNV,TLR3:NM_003265:exon4:c.C1556T:p.A519V,D,D,D,T,D,T
chr4,187172406,187172406,C,T,R010_S,KLKB1,Silent,NM_000892,exon8,c.C792T,p.G264G,SNP,SNVindel,exonic,KLKB1,NA,synonymous SNV,"KLKB1:NM_000892:exon8:c.C792T:p.G264G,KLKB1:NM_001318396:exon8:c.C186T:p.G62G,KLKB1:NM_001318394:exon9:c.C678T:p.G226G",NA,NA,NA,NA,NA,NA
chr4,187539140,187539140,C,T,R010_S,FAT1,Missense_Mutation,NM_005245,exon10,c.G8600A,p.G2867D,SNP,SNVindel,exonic,FAT1,NA,nonsynonymous SNV,FAT1:NM_005245:exon10:c.G8600A:p.G2867D,D,D,D,T,D,D
chr5,1243807,1243807,G,A,R010_S,SLC6A18,Silent,NM_182632,exon9,c.G1269A,p.E423E,SNP,SNVindel,exonic,SLC6A18,NA,synonymous SNV,SLC6A18:NM_182632:exon9:c.G1269A:p.E423E,NA,NA,NA,NA,NA,NA
chr5,1494840,1494840,C,T,R010_S,LPCAT1,Silent,NM_024830,exon3,c.G468A,p.E156E,SNP,SNVindel,exonic,LPCAT1,NA,synonymous SNV,LPCAT1:NM_024830:exon3:c.G468A:p.E156E,NA,NA,NA,NA,NA,NA
chr5,7396592,7396592,G,A,R010_S,ADCY2,Silent,NM_020546,exon1,c.G183A,p.L61L,SNP,SNVindel,exonic,ADCY2,NA,synonymous SNV,ADCY2:NM_020546:exon1:c.G183A:p.L61L,NA,NA,NA,NA,NA,NA
chr5,7866765,7866765,G,A,R010_S,FASTKD3,Silent,NM_024091,exon2,c.C1432T,p.L478L,SNP,SNVindel,exonic,FASTKD3,NA,synonymous SNV,FASTKD3:NM_024091:exon2:c.C1432T:p.L478L,NA,NA,NA,NA,NA,NA
chr5,10403573,10403573,G,A,R010_S,MARCHF6,Missense_Mutation,NM_001270661,exon12,c.G937A,p.G313S,SNP,SNVindel,exonic,MARCHF6,NA,nonsynonymous SNV,"MARCHF6:NM_001270661:exon12:c.G937A:p.G313S,MARCHF6:NM_001270660:exon14:c.G1108A:p.G370S,MARCHF6:NM_005885:exon15:c.G1252A:p.G418S",D,D,D,T,D,T
chr5,13692120,13692120,C,T,R010_S,DNAH5,Silent,NM_001369,exon79,c.G13848A,p.G4616G,SNP,SNVindel,exonic,DNAH5,NA,synonymous SNV,DNAH5:NM_001369:exon79:c.G13848A:p.G4616G,NA,NA,NA,NA,NA,NA
chr5,13752309,13752309,C,T,R010_S,DNAH5,Silent,NM_001369,exon64,c.G10962A,p.E3654E,SNP,SNVindel,exonic,DNAH5,NA,synonymous SNV,DNAH5:NM_001369:exon64:c.G10962A:p.E3654E,NA,NA,NA,NA,NA,NA
chr5,13841139,13841139,G,A,R010_S,DNAH5,Missense_Mutation,NM_001369,exon34,c.C5585T,p.A1862V,SNP,SNVindel,exonic,DNAH5,NA,nonsynonymous SNV,DNAH5:NM_001369:exon34:c.C5585T:p.A1862V,T,N,N,T,N,T
chr5,14419933,14419933,C,T,R010_S,TRIO,Missense_Mutation,NM_007118,exon34,c.C5006T,p.A1669V,SNP,SNVindel,exonic,TRIO,NA,nonsynonymous SNV,TRIO:NM_007118:exon34:c.C5006T:p.A1669V,D,D,D,T,D,D
chr5,15937062,15937062,G,A,R010_S,FBXL7,Missense_Mutation,NM_001278317,exon4,c.G1102A,p.V368I,SNP,SNVindel,exonic,FBXL7,NA,nonsynonymous SNV,"FBXL7:NM_001278317:exon4:c.G1102A:p.V368I,FBXL7:NM_012304:exon4:c.G1243A:p.V415I",T,D,D,T,N,T
chr5,16067851,16067851,C,T,R010_S,MARCHF11,Missense_Mutation,NM_001102562,exon4,c.G938A,p.R313Q,SNP,SNVindel,exonic,MARCHF11,NA,nonsynonymous SNV,MARCHF11:NM_001102562:exon4:c.G938A:p.R313Q,T,D,D,T,N,T
chr5,16465242,16465242,G,A,R010_S,ZNF622,Missense_Mutation,NM_033414,exon1,c.C533T,p.P178L,SNP,SNVindel,exonic,ZNF622,NA,nonsynonymous SNV,ZNF622:NM_033414:exon1:c.C533T:p.P178L,D,D,D,.,D,T
chr5,16794782,16794782,C,T,R010_S,MYO10,Missense_Mutation,NM_012334,exon4,c.G440A,p.R147H,SNP,SNVindel,exonic,MYO10,NA,nonsynonymous SNV,MYO10:NM_012334:exon4:c.G440A:p.R147H,T,.,D,D,N,D
chr5,23527366,23527366,G,A,R010_S,PRDM9,Silent,NM_001310214,exon11,c.G2169A,p.R723R,SNP,SNVindel,exonic,PRDM9,NA,synonymous SNV,"PRDM9:NM_001310214:exon11:c.G2169A:p.R723R,PRDM9:NM_020227:exon11:c.G2169A:p.R723R",NA,NA,NA,NA,NA,NA
chr5,24593512,24593512,G,A,R010_S,CDH10,Missense_Mutation,NM_001317224,exon2,c.C88T,p.P30S,SNP,SNVindel,exonic,CDH10,NA,nonsynonymous SNV,"CDH10:NM_001317224:exon2:c.C88T:p.P30S,CDH10:NM_001362460:exon2:c.C88T:p.P30S,CDH10:NM_006727:exon2:c.C88T:p.P30S",T,N,N,T,N,T
chr5,26881282,26881282,G,A,R010_S,CDH9,Missense_Mutation,NM_016279,exon12,c.C2333T,p.A778V,SNP,SNVindel,exonic,CDH9,NA,nonsynonymous SNV,CDH9:NM_016279:exon12:c.C2333T:p.A778V,D,D,D,D,D,D
chr5,26885765,26885765,C,T,R010_S,CDH9,Missense_Mutation,NM_016279,exon11,c.G1840A,p.G614R,SNP,SNVindel,exonic,CDH9,NA,nonsynonymous SNV,CDH9:NM_016279:exon11:c.G1840A:p.G614R,D,D,D,T,D,D
chr5,31983515,31983515,G,A,R010_S,PDZD2,Missense_Mutation,NM_178140,exon3,c.G731A,p.S244N,SNP,SNVindel,exonic,PDZD2,NA,nonsynonymous SNV,PDZD2:NM_178140:exon3:c.G731A:p.S244N,T,N,N,T,N,T
chr5,32385621,32385621,C,T,R010_S,ZFR,Silent,NM_016107,exon15,c.G2634A,p.R878R,SNP,SNVindel,exonic,ZFR,NA,synonymous SNV,ZFR:NM_016107:exon15:c.G2634A:p.R878R,NA,NA,NA,NA,NA,NA
chr5,33448717,33448717,C,T,R010_S,TARS,Missense_Mutation,NM_001258438,exon3,c.C209T,p.S70F,SNP,SNVindel,exonic,TARS,NA,nonsynonymous SNV,"TARS:NM_001258438:exon3:c.C209T:p.S70F,TARS:NM_152295:exon3:c.C209T:p.S70F,TARS:NM_001258437:exon4:c.C209T:p.S70F",D,D,D,T,N,T
chr5,34925443,34925443,C,T,R010_S,BRIX1,Missense_Mutation,NM_018321,exon10,c.C905T,p.P302L,SNP,SNVindel,exonic,BRIX1,NA,nonsynonymous SNV,BRIX1:NM_018321:exon10:c.C905T:p.P302L,D,D,D,T,D,T
chr5,34945906,34945906,C,T,R010_S,DNAJC21,Nonsense_Mutation,NM_001012339,exon9,c.C1183T,p.Q395X,SNP,SNVindel,exonic,DNAJC21,NA,stopgain,"DNAJC21:NM_001012339:exon9:c.C1183T:p.Q395X,DNAJC21:NM_001348420:exon9:c.C1222T:p.Q408X,DNAJC21:NM_194283:exon9:c.C1183T:p.Q395X",.,N,A,.,.,.
chr5,35692803,35692803,C,T,R010_S,SPEF2,Nonsense_Mutation,NM_024867,exon12,c.C1876T,p.Q626X,SNP,SNVindel,exonic,SPEF2,NA,stopgain,SPEF2:NM_024867:exon12:c.C1876T:p.Q626X,.,N,A,.,.,.
chr5,36241747,36241747,G,A,R010_S,NADK2,Missense_Mutation,NM_001085411,exon1,c.C154T,p.P52S,SNP,SNVindel,exonic,NADK2,NA,nonsynonymous SNV,NADK2:NM_001085411:exon1:c.C154T:p.P52S,T,.,D,.,N,T
chr5,36976489,36976489,G,A,R010_S,NIPBL,Missense_Mutation,NM_015384,exon9,c.G1480A,p.E494K,SNP,SNVindel,exonic,NIPBL,NA,nonsynonymous SNV,"NIPBL:NM_015384:exon9:c.G1480A:p.E494K,NIPBL:NM_133433:exon9:c.G1480A:p.E494K",D,D,D,D,N,D
chr5,36995732,36995732,G,A,R010_S,NIPBL,Missense_Mutation,NM_015384,exon11,c.G3130A,p.D1044N,SNP,SNVindel,exonic,NIPBL,NA,nonsynonymous SNV,"NIPBL:NM_015384:exon11:c.G3130A:p.D1044N,NIPBL:NM_133433:exon11:c.G3130A:p.D1044N",D,D,D,D,N,D
chr5,37125368,37125368,G,A,R010_S,CPLANE1,Missense_Mutation,NM_023073,exon46,c.C8774T,p.P2925L,SNP,SNVindel,exonic,CPLANE1,NA,nonsynonymous SNV,CPLANE1:NM_023073:exon46:c.C8774T:p.P2925L,D,D,D,T,D,T
chr5,38884163,38884163,G,A,R010_S,OSMR,Missense_Mutation,NM_001168355,exon5,c.G653A,p.S218N,SNP,SNVindel,exonic,OSMR,NA,nonsynonymous SNV,"OSMR:NM_001168355:exon5:c.G653A:p.S218N,OSMR:NM_001323504:exon5:c.G653A:p.S218N,OSMR:NM_001323505:exon5:c.G653A:p.S218N,OSMR:NM_001323506:exon5:c.G653A:p.S218N,OSMR:NM_001323507:exon5:c.G653A:p.S218N,OSMR:NM_003999:exon5:c.G653A:p.S218N",T,N,N,T,N,T
chr5,40730435,40730435,C,T,R010_S,TTC33,Missense_Mutation,NM_012382,exon3,c.G232A,p.A78T,SNP,SNVindel,exonic,TTC33,NA,nonsynonymous SNV,TTC33:NM_012382:exon3:c.G232A:p.A78T,D,D,D,D,D,D
chr5,40964861,40964861,C,T,R010_S,C7,Missense_Mutation,NM_000587,exon14,c.C1768T,p.P590S,SNP,SNVindel,exonic,C7,NA,nonsynonymous SNV,C7:NM_000587:exon14:c.C1768T:p.P590S,T,D,D,T,D,T
chr5,43039827,43039827,C,T,R010_S,ANXA2R,Missense_Mutation,NM_001014279,exon1,c.G322A,p.G108R,SNP,SNVindel,exonic,ANXA2R,NA,nonsynonymous SNV,ANXA2R:NM_001014279:exon1:c.G322A:p.G108R,T,.,N,T,N,T
chr5,43277242,43277242,G,A,R010_S,NIM1K,Missense_Mutation,NM_153361,exon3,c.G376A,p.E126K,SNP,SNVindel,exonic,NIM1K,NA,nonsynonymous SNV,NIM1K:NM_153361:exon3:c.G376A:p.E126K,D,D,D,T,D,T
chr5,43613145,43613145,G,A,R010_S,NNT,Missense_Mutation,NM_012343,exon3,c.G287A,p.G96D,SNP,SNVindel,exonic,NNT,NA,nonsynonymous SNV,"NNT:NM_012343:exon3:c.G287A:p.G96D,NNT:NM_182977:exon3:c.G287A:p.G96D",D,D,D,D,D,D
chr5,43649380,43649380,C,T,R010_S,NNT,Missense_Mutation,NM_001331026,exon10,c.C1183T,p.P395S,SNP,SNVindel,exonic,NNT,NA,nonsynonymous SNV,"NNT:NM_001331026:exon10:c.C1183T:p.P395S,NNT:NM_012343:exon11:c.C1576T:p.P526S,NNT:NM_182977:exon11:c.C1576T:p.P526S",D,D,D,D,D,D
chr5,52899323,52899323,C,T,R010_S,NDUFS4,Missense_Mutation,NM_001318051,exon2,c.C140T,p.T47I,SNP,SNVindel,exonic,NDUFS4,NA,nonsynonymous SNV,"NDUFS4:NM_001318051:exon2:c.C140T:p.T47I,NDUFS4:NM_002495:exon2:c.C140T:p.T47I",T,N,D,T,N,T
chr5,54320538,54320538,C,T,R010_S,GZMK,Missense_Mutation,NM_002104,exon2,c.C115T,p.P39S,SNP,SNVindel,exonic,GZMK,NA,nonsynonymous SNV,GZMK:NM_002104:exon2:c.C115T:p.P39S,D,D,D,D,D,D
chr5,54591246,54591246,T,C,R010_S,DHX29,Silent,NM_001345964,exon5,c.A612G,p.Q204Q,SNP,SNVindel,exonic,DHX29,NA,synonymous SNV,"DHX29:NM_001345964:exon5:c.A612G:p.Q204Q,DHX29:NM_019030:exon5:c.A612G:p.Q204Q",NA,NA,NA,NA,NA,NA
chr5,54624620,54624620,G,A,R010_S,MTREX,Missense_Mutation,NM_015360,exon5,c.G496A,p.G166R,SNP,SNVindel,exonic,MTREX,NA,nonsynonymous SNV,MTREX:NM_015360:exon5:c.G496A:p.G166R,D,D,D,D,D,D
chr5,54662634,54662634,C,T,R010_S,MTREX,Missense_Mutation,NM_015360,exon16,c.C1741T,p.P581S,SNP,SNVindel,exonic,MTREX,NA,nonsynonymous SNV,MTREX:NM_015360:exon16:c.C1741T:p.P581S,D,D,D,T,D,T
chr5,55247393,55247393,G,A,R010_S,IL6ST,Missense_Mutation,NM_001364279,exon12,c.C743T,p.S248F,SNP,SNVindel,exonic,IL6ST,NA,nonsynonymous SNV,"IL6ST:NM_001364279:exon12:c.C743T:p.S248F,IL6ST:NM_001190981:exon13:c.C1556T:p.S519F,IL6ST:NM_001364275:exon13:c.C1637T:p.S546F,IL6ST:NM_001364278:exon13:c.C836T:p.S279F,IL6ST:NM_001364276:exon14:c.C1529T:p.S510F,IL6ST:NM_001364277:exon14:c.C872T:p.S291F,IL6ST:NM_002184:exon14:c.C1739T:p.S580F",D,D,D,T,D,T
chr5,55407549,55407549,C,T,R010_S,ANKRD55,Silent,NM_024669,exon10,c.G1026A,p.R342R,SNP,SNVindel,exonic,ANKRD55,NA,synonymous SNV,ANKRD55:NM_024669:exon10:c.G1026A:p.R342R,NA,NA,NA,NA,NA,NA
chr5,56167845,56167845,C,T,R010_S,MAP3K1,Silent,NM_005921,exon7,c.C1410T,p.H470H,SNP,SNVindel,exonic,MAP3K1,NA,synonymous SNV,MAP3K1:NM_005921:exon7:c.C1410T:p.H470H,NA,NA,NA,NA,NA,NA
chr5,63509708,63509708,G,A,R010_S,RNF180,Silent,NM_001113561,exon4,c.G555A,p.E185E,SNP,SNVindel,exonic,RNF180,NA,synonymous SNV,"RNF180:NM_001113561:exon4:c.G555A:p.E185E,RNF180:NM_001323292:exon4:c.G555A:p.E185E,RNF180:NM_178532:exon4:c.G555A:p.E185E",NA,NA,NA,NA,NA,NA
chr5,64273019,64273019,C,T,R010_S,CWC27,Missense_Mutation,NM_005869,exon13,c.C1210T,p.P404S,SNP,SNVindel,exonic,CWC27,NA,nonsynonymous SNV,CWC27:NM_005869:exon13:c.C1210T:p.P404S,T,D,D,T,N,T
chr5,66449346,66449346,C,A,R010_S,MAST4,Missense_Mutation,NM_001290227,exon23,c.C2803A,p.H935N,SNP,SNVindel,exonic,MAST4,NA,nonsynonymous SNV,"MAST4:NM_001290227:exon23:c.C2803A:p.H935N,MAST4:NM_001297651:exon23:c.C3004A:p.H1002N,MAST4:NM_001290226:exon24:c.C2968A:p.H990N,MAST4:NM_015183:exon25:c.C3019A:p.H1007N,MAST4:NM_001164664:exon26:c.C3586A:p.H1196N",D,D,D,T,D,T
chr5,66456376,66456376,G,A,R010_S,MAST4,Missense_Mutation,NM_001290227,exon24,c.G2958A,p.M986I,SNP,SNVindel,exonic,MAST4,NA,nonsynonymous SNV,"MAST4:NM_001290227:exon24:c.G2958A:p.M986I,MAST4:NM_001297651:exon24:c.G3159A:p.M1053I,MAST4:NM_001290226:exon25:c.G3123A:p.M1041I,MAST4:NM_015183:exon26:c.G3174A:p.M1058I,MAST4:NM_001164664:exon27:c.G3741A:p.M1247I",D,D,D,T,D,D
chr5,66460852,66460852,G,A,R010_S,MAST4,Missense_Mutation,NM_001290227,exon26,c.G5062A,p.D1688N,SNP,SNVindel,exonic,MAST4,NA,nonsynonymous SNV,"MAST4:NM_001290227:exon26:c.G5062A:p.D1688N,MAST4:NM_001297651:exon26:c.G5263A:p.D1755N,MAST4:NM_001290226:exon27:c.G5227A:p.D1743N,MAST4:NM_015183:exon28:c.G5278A:p.D1760N,MAST4:NM_001164664:exon29:c.G5845A:p.D1949N",T,N,N,T,N,T
chr5,67589138,67589138,G,A,R010_S,PIK3R1,Missense_Mutation,NM_001242466,exon3,c.G37A,p.G13R,SNP,SNVindel,exonic,PIK3R1,NA,nonsynonymous SNV,"PIK3R1:NM_001242466:exon3:c.G37A:p.G13R,PIK3R1:NM_181504:exon4:c.G316A:p.G106R,PIK3R1:NM_181524:exon4:c.G226A:p.G76R,PIK3R1:NM_181523:exon10:c.G1126A:p.G376R",D,D,D,T,D,D
chr5,68709971,68709971,C,T,R010_S,RAD17,Missense_Mutation,NM_133339,exon16,c.C1898T,p.T633I,SNP,SNVindel,exonic,RAD17,NA,nonsynonymous SNV,"RAD17:NM_133339:exon16:c.C1898T:p.T633I,RAD17:NM_133340:exon16:c.C1370T:p.T457I,RAD17:NM_133341:exon16:c.C1607T:p.T536I,RAD17:NM_002873:exon17:c.C1865T:p.T622I,RAD17:NM_133344:exon17:c.C1865T:p.T622I,RAD17:NM_001278622:exon18:c.C1865T:p.T622I,RAD17:NM_133342:exon18:c.C1865T:p.T622I,RAD17:NM_133343:exon18:c.C1865T:p.T622I,RAD17:NM_133338:exon19:c.C1865T:p.T622I",T,N,N,T,N,T
chr5,68805414,68805414,C,T,R010_S,OCLN,Missense_Mutation,NM_001205254,exon3,c.C497T,p.S166F,SNP,SNVindel,exonic,OCLN,NA,nonsynonymous SNV,"OCLN:NM_001205254:exon3:c.C497T:p.S166F,OCLN:NM_002538:exon3:c.C497T:p.S166F",T,D,D,T,N,T
chr5,71493285,71493285,C,T,R010_S,MAP1B,Missense_Mutation,NM_001324255,exon4,c.C3725T,p.A1242V,SNP,SNVindel,exonic,MAP1B,NA,nonsynonymous SNV,"MAP1B:NM_001324255:exon4:c.C3725T:p.A1242V,MAP1B:NM_005909:exon5:c.C4103T:p.A1368V",T,N,D,T,N,T
chr5,73179704,73179704,C,T,R010_S,ARHGEF28,Missense_Mutation,NM_001244364,exon16,c.C2111T,p.T704I,SNP,SNVindel,exonic,ARHGEF28,NA,nonsynonymous SNV,"ARHGEF28:NM_001244364:exon16:c.C2111T:p.T704I,ARHGEF28:NM_001080479:exon24:c.C3050T:p.T1017I,ARHGEF28:NM_001177693:exon24:c.C3050T:p.T1017I",D,.,D,T,D,D
chr5,76715638,76715638,G,A,R010_S,PDE8B,Missense_Mutation,NM_001029851,exon16,c.G1885A,p.A629T,SNP,SNVindel,exonic,PDE8B,NA,nonsynonymous SNV,"PDE8B:NM_001029851:exon16:c.G1885A:p.A629T,PDE8B:NM_001029852:exon18:c.G2011A:p.A671T,PDE8B:NM_001029853:exon18:c.G2116A:p.A706T,PDE8B:NM_001029854:exon18:c.G2035A:p.A679T,PDE8B:NM_001349748:exon19:c.G2173A:p.A725T,PDE8B:NM_001349751:exon19:c.G2173A:p.A725T,PDE8B:NM_001349752:exon19:c.G1870A:p.A624T,PDE8B:NM_003719:exon19:c.G2176A:p.A726T,PDE8B:NM_001349749:exon20:c.G2239A:p.A747T,PDE8B:NM_001349750:exon20:c.G1936A:p.A646T,PDE8B:NM_001349753:exon20:c.G1804A:p.A602T",D,D,D,D,D,D
chr5,80382723,80382723,G,A,R010_S,RASGRF2,Silent,NM_006909,exon9,c.G1341A,p.V447V,SNP,SNVindel,exonic,RASGRF2,NA,synonymous SNV,RASGRF2:NM_006909:exon9:c.G1341A:p.V447V,NA,NA,NA,NA,NA,NA
chr5,82834761,82834761,T,A,R010_S,VCAN,Missense_Mutation,NM_001164097,exon7,c.T2978A,p.I993N,SNP,SNVindel,exonic,VCAN,NA,nonsynonymous SNV,"VCAN:NM_001164097:exon7:c.T2978A:p.I993N,VCAN:NM_004385:exon8:c.T5939A:p.I1980N",D,N,N,D,N,T
chr5,82940391,82940391,G,A,R010_S,HAPLN1,Missense_Mutation,NM_001884,exon4,c.C566T,p.A189V,SNP,SNVindel,exonic,HAPLN1,NA,nonsynonymous SNV,HAPLN1:NM_001884:exon4:c.C566T:p.A189V,D,D,D,T,D,T
chr5,86668012,86668012,G,A,R010_S,RASA1,Silent,NM_002890,exon13,c.G1776A,p.Q592Q,SNP,SNVindel,exonic,RASA1,NA,synonymous SNV,"RASA1:NM_002890:exon13:c.G1776A:p.Q592Q,RASA1:NM_022650:exon13:c.G1245A:p.Q415Q",NA,NA,NA,NA,NA,NA
chr5,87492100,87492100,C,T,R010_S,TMEM161B,Nonsense_Mutation,NM_001349405,exon10,c.G846A,p.W282X,SNP,SNVindel,exonic,TMEM161B,NA,stopgain,"TMEM161B:NM_001349405:exon10:c.G846A:p.W282X,TMEM161B:NM_001349402:exon11:c.G846A:p.W282X,TMEM161B:NM_001349403:exon11:c.G846A:p.W282X,TMEM161B:NM_001349400:exon12:c.G846A:p.W282X,TMEM161B:NM_153354:exon12:c.G1392A:p.W464X,TMEM161B:NM_001289008:exon13:c.G1359A:p.W453X",.,D,D,.,.,.
chr5,90083982,90083982,G,A,R010_S,ADGRV1,Missense_Mutation,NM_032119,exon68,c.G13748A,p.G4583E,SNP,SNVindel,exonic,ADGRV1,NA,nonsynonymous SNV,ADGRV1:NM_032119:exon68:c.G13748A:p.G4583E,T,N,N,T,N,T
chr5,90106172,90106172,G,A,R010_S,ADGRV1,Missense_Mutation,NM_032119,exon74,c.G15095A,p.G5032E,SNP,SNVindel,exonic,ADGRV1,NA,nonsynonymous SNV,ADGRV1:NM_032119:exon74:c.G15095A:p.G5032E,D,D,D,T,D,T
chr5,90672550,90672550,C,T,R010_S,ARRDC3,Missense_Mutation,NM_020801,exon3,c.G398A,p.S133N,SNP,SNVindel,exonic,ARRDC3,NA,nonsynonymous SNV,ARRDC3:NM_020801:exon3:c.G398A:p.S133N,T,D,D,T,N,T
chr5,94025229,94025229,G,A,R010_S,SLF1,Silent,NM_032290,exon18,c.G2337A,p.K779K,SNP,SNVindel,exonic,SLF1,NA,synonymous SNV,SLF1:NM_032290:exon18:c.G2337A:p.K779K,NA,NA,NA,NA,NA,NA
chr5,94957158,94957158,C,T,R010_S,GPR150,Silent,NM_199243,exon1,c.C1179T,p.L393L,SNP,SNVindel,exonic,GPR150,NA,synonymous SNV,GPR150:NM_199243:exon1:c.C1179T:p.L393L,NA,NA,NA,NA,NA,NA
chr5,95091446,95091446,C,T,R010_S,RHOBTB3,Silent,NM_014899,exon6,c.C1029T,p.I343I,SNP,SNVindel,exonic,RHOBTB3,NA,synonymous SNV,RHOBTB3:NM_014899:exon6:c.C1029T:p.I343I,NA,NA,NA,NA,NA,NA
chr5,95124483,95124483,C,T,R010_S,RHOBTB3,Silent,NM_014899,exon11,c.C1641T,p.C547C,SNP,SNVindel,exonic,RHOBTB3,NA,synonymous SNV,RHOBTB3:NM_014899:exon11:c.C1641T:p.C547C,NA,NA,NA,NA,NA,NA
chr5,112177191,112177191,C,T,R010_S,APC,Missense_Mutation,NM_001127511,exon14,c.C5846T,p.S1949F,SNP,SNVindel,exonic,APC,NA,nonsynonymous SNV,"APC:NM_001127511:exon14:c.C5846T:p.S1949F,APC:NM_001354897:exon15:c.C5930T:p.S1977F,APC:NM_001354899:exon15:c.C5816T:p.S1939F,APC:NM_001354901:exon15:c.C5723T:p.S1908F,APC:NM_001354902:exon15:c.C5627T:p.S1876F,APC:NM_001354905:exon15:c.C5420T:p.S1807F,APC:NM_000038:exon16:c.C5900T:p.S1967F,APC:NM_001354895:exon16:c.C5900T:p.S1967F,APC:NM_001354898:exon16:c.C5825T:p.S1942F,APC:NM_001354900:exon16:c.C5777T:p.S1926F,APC:NM_001354903:exon16:c.C5597T:p.S1866F,APC:NM_001354904:exon16:c.C5522T:p.S1841F,APC:NM_001127510:exon17:c.C5900T:p.S1967F,APC:NM_001354896:exon17:c.C5954T:p.S1985F,APC:NM_001354906:exon17:c.C5051T:p.S1684F",D,D,D,D,D,D
chr5,112321644,112321644,G,A,R010_S,DCP2,Missense_Mutation,NM_001242377,exon2,c.G166A,p.G56R,SNP,SNVindel,exonic,DCP2,NA,nonsynonymous SNV,"DCP2:NM_001242377:exon2:c.G166A:p.G56R,DCP2:NM_152624:exon2:c.G166A:p.G56R",T,D,D,T,N,T
chr5,112321663,112321663,T,A,R010_S,DCP2,Missense_Mutation,NM_001242377,exon2,c.T185A,p.I62K,SNP,SNVindel,exonic,DCP2,NA,nonsynonymous SNV,"DCP2:NM_001242377:exon2:c.T185A:p.I62K,DCP2:NM_152624:exon2:c.T185A:p.I62K",D,D,D,T,D,T
chr5,112927743,112927743,G,A,R010_S,YTHDC2,Nonsense_Mutation,NM_001345976,exon26,c.G3180A,p.W1060X,SNP,SNVindel,exonic,YTHDC2,NA,stopgain,"YTHDC2:NM_001345976:exon26:c.G3180A:p.W1060X,YTHDC2:NM_001345975:exon27:c.G3594A:p.W1198X,YTHDC2:NM_022828:exon28:c.G4080A:p.W1360X",.,D,A,.,.,.
chr5,114469740,114469740,C,T,R010_S,TRIM36,Missense_Mutation,NM_001300752,exon7,c.G886A,p.E296K,SNP,SNVindel,exonic,TRIM36,NA,nonsynonymous SNV,"TRIM36:NM_001300752:exon7:c.G886A:p.E296K,TRIM36:NM_001300759:exon8:c.G1315A:p.E439K,TRIM36:NM_018700:exon8:c.G1351A:p.E451K",D,D,D,T,D,T
chr5,114632180,114632180,C,T,R010_S,CCDC112,Missense_Mutation,NM_001040440,exon1,c.G61A,p.A21T,SNP,SNVindel,exonic,CCDC112,NA,nonsynonymous SNV,CCDC112:NM_001040440:exon1:c.G61A:p.A21T,T,D,D,T,N,T
chr5,114956286,114956286,C,T,R010_S,TMED7,Missense_Mutation,NM_001164468,exon2,c.G284A,p.S95N,SNP,SNVindel,exonic,TMED7;TMED7-TICAM2,NA,nonsynonymous SNV,"TMED7-TICAM2:NM_001164468:exon2:c.G284A:p.S95N,TMED7-TICAM2:NM_001164469:exon2:c.G284A:p.S95N,TMED7:NM_181836:exon2:c.G284A:p.S95N",T,D,D,T,N,T
chr5,122154552,122154552,C,T,R010_S,SNX2,Missense_Mutation,NM_001278199,exon11,c.C695T,p.A232V,SNP,SNVindel,exonic,SNX2,NA,nonsynonymous SNV,"SNX2:NM_001278199:exon11:c.C695T:p.A232V,SNX2:NM_003100:exon11:c.C1046T:p.A349V",D,D,D,T,D,T
chr5,123985379,123985379,C,T,R010_S,ZNF608,Missense_Mutation,NM_020747,exon3,c.G1174A,p.V392I,SNP,SNVindel,exonic,ZNF608,NA,nonsynonymous SNV,ZNF608:NM_020747:exon3:c.G1174A:p.V392I,D,D,D,T,N,T
chr5,126755891,126755891,C,T,R010_S,MEGF10,Missense_Mutation,NM_001256545,exon12,c.C1582T,p.P528S,SNP,SNVindel,exonic,MEGF10,NA,nonsynonymous SNV,"MEGF10:NM_001256545:exon12:c.C1582T:p.P528S,MEGF10:NM_001308121:exon12:c.C1582T:p.P528S,MEGF10:NM_001308119:exon13:c.C1582T:p.P528S,MEGF10:NM_032446:exon13:c.C1582T:p.P528S",D,N,D,D,D,T
chr5,127471458,127471458,C,T,R010_S,SLC12A2,Missense_Mutation,NM_001046,exon7,c.C1366T,p.P456S,SNP,SNVindel,exonic,SLC12A2,NA,nonsynonymous SNV,"SLC12A2:NM_001046:exon7:c.C1366T:p.P456S,SLC12A2:NM_001256461:exon7:c.C1366T:p.P456S",T,N,D,D,D,D
chr5,128364105,128364105,G,A,R010_S,SLC27A6,Missense_Mutation,NM_001017372,exon8,c.G1522A,p.E508K,SNP,SNVindel,exonic,SLC27A6,NA,nonsynonymous SNV,"SLC27A6:NM_001017372:exon8:c.G1522A:p.E508K,SLC27A6:NM_001317984:exon9:c.G1522A:p.E508K,SLC27A6:NM_014031:exon9:c.G1522A:p.E508K",D,D,D,T,D,D
chr5,132038264,132038264,C,T,R010_S,KIF3A,Missense_Mutation,NM_007054,exon12,c.G1663A,p.A555T,SNP,SNVindel,exonic,KIF3A,NA,nonsynonymous SNV,"KIF3A:NM_007054:exon12:c.G1663A:p.A555T,KIF3A:NM_001300792:exon13:c.G1672A:p.A558T,KIF3A:NM_001300791:exon14:c.G1744A:p.A582T",T,D,D,T,N,T
chr5,132159693,132159693,G,A,R010_S,SHROOM1,Missense_Mutation,NM_133456,exon4,c.C1660T,p.P554S,SNP,SNVindel,exonic,SHROOM1,NA,nonsynonymous SNV,"SHROOM1:NM_133456:exon4:c.C1660T:p.P554S,SHROOM1:NM_001172700:exon7:c.C1660T:p.P554S",D,N,D,T,N,T
chr5,134154561,134154561,G,A,R010_S,DDX46,Nonsense_Mutation,NM_001300860,exon21,c.G2844A,p.W948X,SNP,SNVindel,exonic,DDX46,NA,stopgain,"DDX46:NM_001300860:exon21:c.G2844A:p.W948X,DDX46:NM_014829:exon21:c.G2841A:p.W947X",.,D,A,.,.,.
chr5,135389652,135389652,G,A,R010_S,TGFBI,Missense_Mutation,NM_000358,exon9,c.G1147A,p.A383T,SNP,SNVindel,exonic,TGFBI,NA,nonsynonymous SNV,TGFBI:NM_000358:exon9:c.G1147A:p.A383T,D,D,D,T,N,T
chr5,136834182,136834182,C,T,R010_S,SPOCK1,Silent,NM_004598,exon2,c.G66A,p.R22R,SNP,SNVindel,exonic,SPOCK1,NA,synonymous SNV,SPOCK1:NM_004598:exon2:c.G66A:p.R22R,NA,NA,NA,NA,NA,NA
chr5,137089031,137089031,G,A,R010_S,HNRNPA0,Missense_Mutation,NM_006805,exon1,c.C725T,p.S242F,SNP,SNVindel,exonic,HNRNPA0,NA,nonsynonymous SNV,HNRNPA0:NM_006805:exon1:c.C725T:p.S242F,D,U,N,D,N,T
chr5,137277671,137277671,C,T,R010_S,FAM13B,Silent,NM_001101800,exon21,c.G2502A,p.L834L,SNP,SNVindel,exonic,FAM13B,NA,synonymous SNV,"FAM13B:NM_001101800:exon21:c.G2502A:p.L834L,FAM13B:NM_001101801:exon21:c.G2214A:p.L738L,FAM13B:NM_016603:exon22:c.G2586A:p.L862L",NA,NA,NA,NA,NA,NA
chr5,137284819,137284819,C,T,R010_S,FAM13B,Missense_Mutation,NM_001101800,exon17,c.G1919A,p.S640N,SNP,SNVindel,exonic,FAM13B,NA,nonsynonymous SNV,"FAM13B:NM_001101800:exon17:c.G1919A:p.S640N,FAM13B:NM_001101801:exon17:c.G1631A:p.S544N,FAM13B:NM_016603:exon17:c.G1919A:p.S640N",T,D,D,T,N,T
chr5,137500048,137500048,G,A,R010_S,BRD8,Missense_Mutation,NM_001300962,exon12,c.C1663T,p.P555S,SNP,SNVindel,exonic,BRD8,NA,nonsynonymous SNV,"BRD8:NM_001300962:exon12:c.C1663T:p.P555S,BRD8:NM_001164326:exon13:c.C1795T:p.P599S,BRD8:NM_001300961:exon13:c.C1738T:p.P580S,BRD8:NM_139199:exon13:c.C1786T:p.P596S,BRD8:NM_001300966:exon14:c.C1468T:p.P490S,BRD8:NM_006696:exon14:c.C2005T:p.P669S",T,N,D,T,N,T
chr5,137504229,137504229,G,A,R010_S,BRD8,Missense_Mutation,NM_001164326,exon9,c.C791T,p.T264I,SNP,SNVindel,exonic,BRD8,NA,nonsynonymous SNV,"BRD8:NM_001164326:exon9:c.C791T:p.T264I,BRD8:NM_001300966:exon9:c.C371T:p.T124I,BRD8:NM_006696:exon9:c.C791T:p.T264I",D,.,D,T,N,T
chr5,137519770,137519770,C,T,R010_S,KIF20A,Missense_Mutation,NM_005733,exon11,c.C1328T,p.A443V,SNP,SNVindel,exonic,KIF20A,NA,nonsynonymous SNV,KIF20A:NM_005733:exon11:c.C1328T:p.A443V,T,D,D,T,N,T
chr5,137522070,137522070,G,A,R010_S,KIF20A,Missense_Mutation,NM_005733,exon18,c.G2305A,p.G769R,SNP,SNVindel,exonic,KIF20A,NA,nonsynonymous SNV,KIF20A:NM_005733:exon18:c.G2305A:p.G769R,T,N,D,T,N,T
chr5,137528064,137528064,C,T,R010_S,CDC23,Missense_Mutation,NM_004661,exon11,c.G1180A,p.V394I,SNP,SNVindel,exonic,CDC23,NA,nonsynonymous SNV,CDC23:NM_004661:exon11:c.G1180A:p.V394I,T,D,D,T,N,T
chr5,138707783,138707783,C,T,R010_S,SLC23A1,Missense_Mutation,NM_005847,exon14,c.G1709A,p.G570E,SNP,SNVindel,exonic,SLC23A1,NA,nonsynonymous SNV,"SLC23A1:NM_005847:exon14:c.G1709A:p.G570E,SLC23A1:NM_152685:exon14:c.G1721A:p.G574E",T,D,D,T,N,T
chr5,138713181,138713181,G,A,R010_S,SLC23A1,Missense_Mutation,NM_005847,exon13,c.C1459T,p.L487F,SNP,SNVindel,exonic,SLC23A1,NA,nonsynonymous SNV,"SLC23A1:NM_005847:exon13:c.C1459T:p.L487F,SLC23A1:NM_152685:exon13:c.C1471T:p.L491F",D,N,N,T,N,T
chr5,139189111,139189111,G,A,R010_S,PSD2,Missense_Mutation,NM_032289,exon2,c.G86A,p.G29E,SNP,SNVindel,exonic,PSD2,NA,nonsynonymous SNV,PSD2:NM_032289:exon2:c.G86A:p.G29E,D,N,N,T,N,T
chr5,139189256,139189256,C,T,R010_S,PSD2,Silent,NM_032289,exon2,c.C231T,p.L77L,SNP,SNVindel,exonic,PSD2,NA,synonymous SNV,PSD2:NM_032289:exon2:c.C231T:p.L77L,NA,NA,NA,NA,NA,NA
chr5,139192976,139192976,G,A,R010_S,PSD2,Missense_Mutation,NM_032289,exon3,c.G454A,p.G152S,SNP,SNVindel,exonic,PSD2,NA,nonsynonymous SNV,PSD2:NM_032289:exon3:c.G454A:p.G152S,D,D,D,T,D,T
chr5,139741712,139741712,G,A,R010_S,SLC4A9,Silent,NM_001258426,exon5,c.G672A,p.R224R,SNP,SNVindel,exonic,SLC4A9,NA,synonymous SNV,"SLC4A9:NM_001258426:exon5:c.G672A:p.R224R,SLC4A9:NM_001258427:exon5:c.G672A:p.R224R,SLC4A9:NM_001258428:exon5:c.G744A:p.R248R,SLC4A9:NM_031467:exon5:c.G672A:p.R224R",NA,NA,NA,NA,NA,NA
chr5,139939971,139939971,C,T,R010_S,APBB3,Missense_Mutation,NM_006051,exon11,c.G1172A,p.S391N,SNP,SNVindel,exonic,APBB3,NA,nonsynonymous SNV,"APBB3:NM_006051:exon11:c.G1172A:p.S391N,APBB3:NM_133172:exon11:c.G1166A:p.S389N,APBB3:NM_133173:exon11:c.G1151A:p.S384N,APBB3:NM_133174:exon11:c.G1145A:p.S382N",T,N,D,T,N,T
chr5,140062759,140062759,C,T,R010_S,HARS,Missense_Mutation,NM_001258041,exon3,c.G226A,p.V76M,SNP,SNVindel,exonic,HARS,NA,nonsynonymous SNV,"HARS:NM_001258041:exon3:c.G226A:p.V76M,HARS:NM_001289092:exon3:c.G226A:p.V76M,HARS:NM_001289094:exon3:c.G139A:p.V47M,HARS:NM_002109:exon3:c.G226A:p.V76M",D,D,D,T,N,T
chr5,140203476,140203476,G,A,R010_S,PCDHA5,Missense_Mutation,NM_018908,exon1,c.G2116A,p.V706M,SNP,SNVindel,exonic,PCDHA5,NA,nonsynonymous SNV,"PCDHA5:NM_018908:exon1:c.G2116A:p.V706M,PCDHA5:NM_031501:exon1:c.G2116A:p.V706M",D,.,D,T,D,T
chr5,140222138,140222138,G,A,R010_S,PCDHA8,Missense_Mutation,NM_018911,exon1,c.G1232A,p.S411N,SNP,SNVindel,exonic,PCDHA8,NA,nonsynonymous SNV,"PCDHA8:NM_018911:exon1:c.G1232A:p.S411N,PCDHA8:NM_031856:exon1:c.G1232A:p.S411N",D,U,N,T,N,T
chr5,140262874,140262874,C,T,R010_S,PCDHA13,Silent,NM_018904,exon1,c.C1021T,p.L341L,SNP,SNVindel,exonic,PCDHA13,NA,synonymous SNV,"PCDHA13:NM_018904:exon1:c.C1021T:p.L341L,PCDHA13:NM_031865:exon1:c.C1021T:p.L341L",NA,NA,NA,NA,NA,NA
chr5,140263214,140263214,C,T,R010_S,PCDHA13,Missense_Mutation,NM_018904,exon1,c.C1361T,p.A454V,SNP,SNVindel,exonic,PCDHA13,NA,nonsynonymous SNV,"PCDHA13:NM_018904:exon1:c.C1361T:p.A454V,PCDHA13:NM_031865:exon1:c.C1361T:p.A454V",T,.,N,T,N,T
chr5,140502568,140502568,G,A,R010_S,PCDHB4,Missense_Mutation,NM_018938,exon1,c.G988A,p.G330S,SNP,SNVindel,exonic,PCDHB4,NA,nonsynonymous SNV,PCDHB4:NM_018938:exon1:c.G988A:p.G330S,T,.,N,T,N,T
chr5,140552541,140552541,G,A,R010_S,PCDHB7,Missense_Mutation,NM_018940,exon1,c.G125A,p.G42D,SNP,SNVindel,exonic,PCDHB7,NA,nonsynonymous SNV,PCDHB7:NM_018940:exon1:c.G125A:p.G42D,D,.,D,T,D,T
chr5,140553302,140553302,C,T,R010_S,PCDHB7,Missense_Mutation,NM_018940,exon1,c.C886T,p.P296S,SNP,SNVindel,exonic,PCDHB7,NA,nonsynonymous SNV,PCDHB7:NM_018940:exon1:c.C886T:p.P296S,T,.,N,T,N,T
chr5,140553853,140553853,C,T,R010_S,PCDHB7,Silent,NM_018940,exon1,c.C1437T,p.D479D,SNP,SNVindel,exonic,PCDHB7,NA,synonymous SNV,PCDHB7:NM_018940:exon1:c.C1437T:p.D479D,NA,NA,NA,NA,NA,NA
chr5,140558836,140558836,G,A,R010_S,PCDHB8,Silent,NM_019120,exon1,c.G1221A,p.E407E,SNP,SNVindel,exonic,PCDHB8,NA,synonymous SNV,PCDHB8:NM_019120:exon1:c.G1221A:p.E407E,NA,NA,NA,NA,NA,NA
chr5,140567426,140567426,C,T,R010_S,PCDHB9,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PCDHB9,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr5,140590840,140590840,C,T,R010_S,PCDHB12,Silent,NM_018932,exon1,c.C2361T,p.P787P,SNP,SNVindel,exonic,PCDHB12,NA,synonymous SNV,PCDHB12:NM_018932:exon1:c.C2361T:p.P787P,NA,NA,NA,NA,NA,NA
chr5,140719129,140719129,G,A,R010_S,PCDHGA2,Silent,NM_018915,exon1,c.G591A,p.E197E,SNP,SNVindel,exonic,PCDHGA2,NA,synonymous SNV,"PCDHGA2:NM_018915:exon1:c.G591A:p.E197E,PCDHGA2:NM_032009:exon1:c.G591A:p.E197E",NA,NA,NA,NA,NA,NA
chr5,140731093,140731093,C,T,R010_S,PCDHGB1,Silent,NM_018922,exon1,c.C1266T,p.D422D,SNP,SNVindel,exonic,PCDHGB1,NA,synonymous SNV,"PCDHGB1:NM_018922:exon1:c.C1266T:p.D422D,PCDHGB1:NM_032095:exon1:c.C1266T:p.D422D",NA,NA,NA,NA,NA,NA
chr5,140731789,140731789,C,T,R010_S,PCDHGB1,Silent,NM_018922,exon1,c.C1962T,p.A654A,SNP,SNVindel,exonic,PCDHGB1,NA,synonymous SNV,"PCDHGB1:NM_018922:exon1:c.C1962T:p.A654A,PCDHGB1:NM_032095:exon1:c.C1962T:p.A654A",NA,NA,NA,NA,NA,NA
chr5,140736514,140736514,G,A,R010_S,PCDHGA4,Missense_Mutation,NM_018917,exon1,c.G1840A,p.D614N,SNP,SNVindel,exonic,PCDHGA4,NA,nonsynonymous SNV,"PCDHGA4:NM_018917:exon1:c.G1840A:p.D614N,PCDHGA4:NM_032053:exon1:c.G1840A:p.D614N",.,.,D,.,.,.
chr5,140736799,140736799,C,T,R010_S,PCDHGA4,Missense_Mutation,NM_018917,exon1,c.C2125T,p.L709F,SNP,SNVindel,exonic,PCDHGA4,NA,nonsynonymous SNV,"PCDHGA4:NM_018917:exon1:c.C2125T:p.L709F,PCDHGA4:NM_032053:exon1:c.C2125T:p.L709F",.,.,D,.,.,.
chr5,140794486,140794486,G,A,R010_S,PCDHGA10,Missense_Mutation,NM_018913,exon1,c.G1744A,p.A582T,SNP,SNVindel,exonic,PCDHGA10,NA,nonsynonymous SNV,"PCDHGA10:NM_018913:exon1:c.G1744A:p.A582T,PCDHGA10:NM_032090:exon1:c.G1744A:p.A582T",T,.,D,T,D,T
chr5,140871027,140871027,C,T,R010_S,PCDHGC5,Silent,NM_018929,exon1,c.C2220T,p.D740D,SNP,SNVindel,exonic,PCDHGC5,NA,synonymous SNV,"PCDHGC5:NM_018929:exon1:c.C2220T:p.D740D,PCDHGC5:NM_032407:exon1:c.C2220T:p.D740D",NA,NA,NA,NA,NA,NA
chr5,141051838,141051838,C,T,R010_S,ARAP3,Silent,NM_022481,exon10,c.G1416A,p.Q472Q,SNP,SNVindel,exonic,ARAP3,NA,synonymous SNV,ARAP3:NM_022481:exon10:c.G1416A:p.Q472Q,NA,NA,NA,NA,NA,NA
chr5,141053222,141053222,G,A,R010_S,ARAP3,Silent,NM_022481,exon5,c.C852T,p.D284D,SNP,SNVindel,exonic,ARAP3,NA,synonymous SNV,ARAP3:NM_022481:exon5:c.C852T:p.D284D,NA,NA,NA,NA,NA,NA
chr5,141243772,141243772,C,T,R010_S,PCDH1,Silent,NM_001278615,exon2,c.G987A,p.E329E,SNP,SNVindel,exonic,PCDH1,NA,synonymous SNV,"PCDH1:NM_001278615:exon2:c.G987A:p.E329E,PCDH1:NM_001278613:exon3:c.G2172A:p.E724E,PCDH1:NM_002587:exon3:c.G2124A:p.E708E,PCDH1:NM_032420:exon3:c.G2124A:p.E708E",NA,NA,NA,NA,NA,NA
chr5,141243980,141243980,C,T,R010_S,PCDH1,Missense_Mutation,NM_001278615,exon2,c.G779A,p.G260E,SNP,SNVindel,exonic,PCDH1,NA,nonsynonymous SNV,"PCDH1:NM_001278615:exon2:c.G779A:p.G260E,PCDH1:NM_001278613:exon3:c.G1964A:p.G655E,PCDH1:NM_002587:exon3:c.G1916A:p.G639E,PCDH1:NM_032420:exon3:c.G1916A:p.G639E",T,N,D,T,N,T
chr5,141244680,141244680,C,T,R010_S,PCDH1,Missense_Mutation,NM_001278615,exon2,c.G79A,p.E27K,SNP,SNVindel,exonic,PCDH1,NA,nonsynonymous SNV,"PCDH1:NM_001278615:exon2:c.G79A:p.E27K,PCDH1:NM_001278613:exon3:c.G1264A:p.E422K,PCDH1:NM_002587:exon3:c.G1216A:p.E406K,PCDH1:NM_032420:exon3:c.G1216A:p.E406K",D,D,D,T,D,D
chr5,141336607,141336607,G,A,R010_S,PCDH12,Silent,NM_016580,exon1,c.C810T,p.D270D,SNP,SNVindel,exonic,PCDH12,NA,synonymous SNV,PCDH12:NM_016580:exon1:c.C810T:p.D270D,NA,NA,NA,NA,NA,NA
chr5,142254691,142254691,G,A,R010_S,ARHGAP26,Silent,NM_001135608,exon3,c.G267A,p.E89E,SNP,SNVindel,exonic,ARHGAP26,NA,synonymous SNV,"ARHGAP26:NM_001135608:exon3:c.G267A:p.E89E,ARHGAP26:NM_001349547:exon3:c.G159A:p.E53E,ARHGAP26:NM_015071:exon3:c.G267A:p.E89E",NA,NA,NA,NA,NA,NA
chr5,142661564,142661564,C,T,R010_S,NR3C1,Missense_Mutation,NM_000176,exon9,c.G2224A,p.D742N,SNP,SNVindel,exonic,NR3C1,NA,nonsynonymous SNV,"NR3C1:NM_000176:exon9:c.G2224A:p.D742N,NR3C1:NM_001018074:exon9:c.G2224A:p.D742N,NR3C1:NM_001018075:exon9:c.G2224A:p.D742N,NR3C1:NM_001018076:exon9:c.G2224A:p.D742N,NR3C1:NM_001018077:exon9:c.G2224A:p.D742N,NR3C1:NM_001024094:exon9:c.G2227A:p.D743N,NR3C1:NM_001204258:exon9:c.G2146A:p.D716N,NR3C1:NM_001204259:exon9:c.G1969A:p.D657N,NR3C1:NM_001204260:exon9:c.G1957A:p.D653N,NR3C1:NM_001204261:exon9:c.G1933A:p.D645N,NR3C1:NM_001204262:exon9:c.G1279A:p.D427N,NR3C1:NM_001204263:exon9:c.G1234A:p.D412N,NR3C1:NM_001204264:exon9:c.G1219A:p.D407N,NR3C1:NM_001364180:exon9:c.G2224A:p.D742N,NR3C1:NM_001364181:exon9:c.G2224A:p.D742N,NR3C1:NM_001364182:exon9:c.G2224A:p.D742N,NR3C1:NM_001364184:exon9:c.G2227A:p.D743N,NR3C1:NM_001364185:exon9:c.G2227A:p.D743N,NR3C1:NM_001364183:exon10:c.G2227A:p.D743N",T,D,D,D,N,D
chr5,145969553,145969553,G,A,R010_S,PPP2R2B,Missense_Mutation,NM_181676,exon9,c.C1298T,p.A433V,SNP,SNVindel,exonic,PPP2R2B,NA,nonsynonymous SNV,"PPP2R2B:NM_181676:exon9:c.C1298T:p.A433V,PPP2R2B:NM_001271899:exon10:c.C1307T:p.A436V,PPP2R2B:NM_001271948:exon10:c.C1256T:p.A419V,PPP2R2B:NM_181674:exon10:c.C1487T:p.A496V,PPP2R2B:NM_181675:exon10:c.C1607T:p.A536V,PPP2R2B:NM_001271900:exon11:c.C1463T:p.A488V,PPP2R2B:NM_181677:exon11:c.C1229T:p.A410V,PPP2R2B:NM_181678:exon11:c.C1256T:p.A419V",D,D,D,T,D,T
chr5,147549330,147549330,C,T,R010_S,SPINK14,Missense_Mutation,NM_001001325,exon2,c.C35T,p.S12F,SNP,SNVindel,exonic,SPINK14,NA,nonsynonymous SNV,SPINK14:NM_001001325:exon2:c.C35T:p.S12F,T,N,N,D,N,T
chr5,148206420,148206420,C,T,R010_S,ADRB2,Missense_Mutation,NM_000024,exon1,c.C26T,p.A9V,SNP,SNVindel,exonic,ADRB2,NA,nonsynonymous SNV,ADRB2:NM_000024:exon1:c.C26T:p.A9V,T,N,N,T,N,T
chr5,148709299,148709299,G,A,R010_S,AFAP1L1,Silent,NM_001323062,exon15,c.G1782A,p.E594E,SNP,SNVindel,exonic,AFAP1L1,NA,synonymous SNV,"AFAP1L1:NM_001323062:exon15:c.G1782A:p.E594E,AFAP1L1:NM_001146337:exon16:c.G1881A:p.E627E,AFAP1L1:NM_152406:exon16:c.G1881A:p.E627E",NA,NA,NA,NA,NA,NA
chr5,149212431,149212431,G,A,R010_S,PPARGC1B,Silent,NM_001172698,exon4,c.G678A,p.R226R,SNP,SNVindel,exonic,PPARGC1B,NA,synonymous SNV,"PPARGC1B:NM_001172698:exon4:c.G678A:p.R226R,PPARGC1B:NM_001172699:exon4:c.G603A:p.R201R,PPARGC1B:NM_133263:exon5:c.G795A:p.R265R",NA,NA,NA,NA,NA,NA
chr5,149386101,149386101,C,T,R010_S,HMGXB3,Missense_Mutation,NM_001366501,exon3,c.C203T,p.P68L,SNP,SNVindel,exonic,HMGXB3,NA,nonsynonymous SNV,"HMGXB3:NM_001366501:exon3:c.C203T:p.P68L,HMGXB3:NM_014983:exon3:c.C203T:p.P68L",D,D,D,D,D,D
chr5,149431363,149431363,C,T,R010_S,HMGXB3,Missense_Mutation,NM_001366501,exon19,c.C2989T,p.P997S,SNP,SNVindel,exonic,HMGXB3,NA,nonsynonymous SNV,"HMGXB3:NM_001366501:exon19:c.C2989T:p.P997S,HMGXB3:NM_014983:exon20:c.C3487T:p.P1163S",D,D,D,.,D,T
chr5,149681825,149681825,G,A,R010_S,ARSI,Nonsense_Mutation,NM_001012301,exon1,c.C112T,p.Q38X,SNP,SNVindel,exonic,ARSI,NA,stopgain,ARSI:NM_001012301:exon1:c.C112T:p.Q38X,.,N,A,.,.,.
chr5,150867649,150867649,C,T,R010_S,SLC36A1,Missense_Mutation,NM_078483,exon11,c.C1265T,p.T422I,SNP,SNVindel,exonic,SLC36A1,NA,nonsynonymous SNV,"SLC36A1:NM_078483:exon11:c.C1265T:p.T422I,SLC36A1:NM_001349740:exon12:c.C1181T:p.T394I",T,N,N,T,N,T
chr5,150946022,150946022,C,T,R010_S,FAT2,Missense_Mutation,NM_001447,exon1,c.G2471A,p.G824E,SNP,SNVindel,exonic,FAT2,NA,nonsynonymous SNV,FAT2:NM_001447:exon1:c.G2471A:p.G824E,T,D,D,T,N,T
chr5,151047047,151047047,G,A,R010_S,SPARC,Missense_Mutation,NM_001309443,exon7,c.C563T,p.T188I,SNP,SNVindel,exonic,SPARC,NA,nonsynonymous SNV,"SPARC:NM_001309443:exon7:c.C563T:p.T188I,SPARC:NM_001309444:exon7:c.C566T:p.T189I,SPARC:NM_003118:exon7:c.C566T:p.T189I",D,D,D,T,D,T
chr5,153835513,153835513,C,T,R010_S,SAP30L,Silent,NM_001131062,exon3,c.C354T,p.A118A,SNP,SNVindel,exonic,SAP30L,NA,synonymous SNV,"SAP30L:NM_001131062:exon3:c.C354T:p.A118A,SAP30L:NM_001131063:exon3:c.C339T:p.A113A,SAP30L:NM_024632:exon4:c.C477T:p.A159A",NA,NA,NA,NA,NA,NA
chr5,154395797,154395797,C,T,R010_S,KIF4B,Missense_Mutation,NM_001099293,exon1,c.C2378T,p.P793L,SNP,SNVindel,exonic,KIF4B,NA,nonsynonymous SNV,KIF4B:NM_001099293:exon1:c.C2378T:p.P793L,T,.,D,T,D,T
chr5,156590494,156590494,C,T,R010_S,FAM71B,Missense_Mutation,NM_130899,exon2,c.G782A,p.G261E,SNP,SNVindel,exonic,FAM71B,NA,nonsynonymous SNV,FAM71B:NM_130899:exon2:c.G782A:p.G261E,T,N,N,T,N,T
chr5,156635937,156635937,G,A,R010_S,ITK,Missense_Mutation,NM_005546,exon2,c.G176A,p.R59Q,SNP,SNVindel,exonic,ITK,NA,nonsynonymous SNV,ITK:NM_005546:exon2:c.G176A:p.R59Q,D,D,N,T,N,T
chr5,156721811,156721811,G,A,R010_S,CYFIP2,Missense_Mutation,NM_001037333,exon4,c.G227A,p.G76E,SNP,SNVindel,exonic,CYFIP2,NA,nonsynonymous SNV,"CYFIP2:NM_001037333:exon4:c.G227A:p.G76E,CYFIP2:NM_001291722:exon4:c.G227A:p.G76E,CYFIP2:NM_014376:exon4:c.G227A:p.G76E",.,D,D,.,.,T
chr5,158524102,158524102,C,T,R010_S,EBF1,Silent,NM_001290360,exon2,c.G171A,p.Q57Q,SNP,SNVindel,exonic,EBF1,NA,synonymous SNV,"EBF1:NM_001290360:exon2:c.G171A:p.Q57Q,EBF1:NM_001324101:exon2:c.G171A:p.Q57Q,EBF1:NM_001324103:exon2:c.G171A:p.Q57Q,EBF1:NM_001324106:exon2:c.G171A:p.Q57Q,EBF1:NM_001324107:exon2:c.G171A:p.Q57Q,EBF1:NM_001324108:exon2:c.G171A:p.Q57Q,EBF1:NM_001324109:exon2:c.G171A:p.Q57Q,EBF1:NM_001364155:exon2:c.G171A:p.Q57Q,EBF1:NM_001364156:exon2:c.G57A:p.Q19Q,EBF1:NM_001364157:exon2:c.G57A:p.Q19Q,EBF1:NM_024007:exon2:c.G171A:p.Q57Q,EBF1:NM_182708:exon2:c.G171A:p.Q57Q",NA,NA,NA,NA,NA,NA
chr5,159520343,159520343,C,T,R010_S,PWWP2A,Silent,NM_001130864,exon2,c.G1314A,p.K438K,SNP,SNVindel,exonic,PWWP2A,NA,synonymous SNV,"PWWP2A:NM_001130864:exon2:c.G1314A:p.K438K,PWWP2A:NM_001267035:exon2:c.G1314A:p.K438K,PWWP2A:NM_052927:exon2:c.G1314A:p.K438K,PWWP2A:NM_001349733:exon3:c.G663A:p.K221K,PWWP2A:NM_001349735:exon3:c.G663A:p.K221K,PWWP2A:NM_001349732:exon4:c.G663A:p.K221K,PWWP2A:NM_001349734:exon4:c.G663A:p.K221K",NA,NA,NA,NA,NA,NA
chr5,160033802,160033802,C,T,R010_S,ATP10B,Missense_Mutation,NM_001366652,exon18,c.G3130A,p.D1044N,SNP,SNVindel,exonic,ATP10B,NA,nonsynonymous SNV,"ATP10B:NM_001366652:exon18:c.G3130A:p.D1044N,ATP10B:NM_001366655:exon18:c.G3130A:p.D1044N,ATP10B:NM_001366657:exon18:c.G3094A:p.D1032N,ATP10B:NM_025153:exon19:c.G3130A:p.D1044N",T,N,D,T,N,T
chr5,167645717,167645717,C,T,R010_S,TENM2,Silent,NM_001080428,exon19,c.C4104T,p.S1368S,SNP,SNVindel,exonic,TENM2,NA,synonymous SNV,"TENM2:NM_001080428:exon19:c.C4104T:p.S1368S,TENM2:NM_001368145:exon21:c.C4344T:p.S1448S,TENM2:NM_001368146:exon22:c.C4338T:p.S1446S,TENM2:NM_001122679:exon24:c.C4794T:p.S1598S",NA,NA,NA,NA,NA,NA
chr5,167671624,167671624,G,A,R010_S,TENM2,Missense_Mutation,NM_001080428,exon22,c.G5003A,p.G1668E,SNP,SNVindel,exonic,TENM2,NA,nonsynonymous SNV,"TENM2:NM_001080428:exon22:c.G5003A:p.G1668E,TENM2:NM_001368145:exon24:c.G5243A:p.G1748E,TENM2:NM_001368146:exon25:c.G5237A:p.G1746E,TENM2:NM_001122679:exon27:c.G5693A:p.G1898E",D,D,D,D,D,D
chr5,167674025,167674025,G,A,R010_S,TENM2,Silent,NM_001080428,exon23,c.G5364A,p.K1788K,SNP,SNVindel,exonic,TENM2,NA,synonymous SNV,"TENM2:NM_001080428:exon23:c.G5364A:p.K1788K,TENM2:NM_001368145:exon25:c.G5604A:p.K1868K,TENM2:NM_001368146:exon26:c.G5598A:p.K1866K,TENM2:NM_001122679:exon28:c.G6054A:p.K2018K",NA,NA,NA,NA,NA,NA
chr5,167944836,167944836,G,A,R010_S,RARS,Missense_Mutation,NM_002887,exon14,c.G1642A,p.A548T,SNP,SNVindel,exonic,RARS,NA,nonsynonymous SNV,RARS:NM_002887:exon14:c.G1642A:p.A548T,D,D,D,T,D,D
chr5,167995744,167995744,G,A,R010_S,PANK3,Silent,NM_024594,exon2,c.C288T,p.I96I,SNP,SNVindel,exonic,PANK3,NA,synonymous SNV,PANK3:NM_024594:exon2:c.C288T:p.I96I,NA,NA,NA,NA,NA,NA
chr5,168098450,168098450,C,T,R010_S,SLIT3,Missense_Mutation,NM_001271946,exon34,c.G3901A,p.G1301S,SNP,SNVindel,exonic,SLIT3,NA,nonsynonymous SNV,"SLIT3:NM_001271946:exon34:c.G3901A:p.G1301S,SLIT3:NM_003062:exon34:c.G3880A:p.G1294S",T,D,D,T,N,T
chr5,170736620,170736620,C,T,R010_S,TLX3,Missense_Mutation,NM_021025,exon1,c.C251T,p.P84L,SNP,SNVindel,exonic,TLX3,NA,nonsynonymous SNV,TLX3:NM_021025:exon1:c.C251T:p.P84L,D,D,D,D,D,D
chr5,171777540,171777540,C,T,R010_S,SH3PXD2B,Missense_Mutation,NM_001017995,exon10,c.G839A,p.G280E,SNP,SNVindel,exonic,SH3PXD2B,NA,nonsynonymous SNV,"SH3PXD2B:NM_001017995:exon10:c.G839A:p.G280E,SH3PXD2B:NM_001308175:exon10:c.G839A:p.G280E",T,D,D,T,N,T
chr5,175772242,175772242,C,T,R010_S,SIMC1,Missense_Mutation,NM_001308200,exon7,c.C796T,p.P266S,SNP,SNVindel,exonic,SIMC1,NA,nonsynonymous SNV,"SIMC1:NM_001308200:exon7:c.C796T:p.P266S,SIMC1:NM_198567:exon9:c.C1168T:p.P390S,SIMC1:NM_001308195:exon10:c.C2470T:p.P824S,SIMC1:NM_001308196:exon12:c.C2413T:p.P805S",D,D,D,T,D,T
chr5,176003102,176003102,G,A,R010_S,CDHR2,Silent,NM_001171976,exon12,c.G1110A,p.V370V,SNP,SNVindel,exonic,CDHR2,NA,synonymous SNV,"CDHR2:NM_001171976:exon12:c.G1110A:p.V370V,CDHR2:NM_017675:exon12:c.G1110A:p.V370V",NA,NA,NA,NA,NA,NA
chr5,176409543,176409543,G,A,R010_S,UIMC1,Missense_Mutation,NM_001199298,exon2,c.C74T,p.T25I,SNP,SNVindel,exonic,UIMC1,NA,nonsynonymous SNV,"UIMC1:NM_001199298:exon2:c.C74T:p.T25I,UIMC1:NM_001317961:exon2:c.C74T:p.T25I,UIMC1:NM_016290:exon2:c.C74T:p.T25I,UIMC1:NM_001199297:exon3:c.C74T:p.T25I",T,N,N,T,N,T
chr5,176778564,176778564,G,A,R010_S,LMAN2,Missense_Mutation,NM_006816,exon1,c.C85T,p.P29S,SNP,SNVindel,exonic,LMAN2,NA,nonsynonymous SNV,LMAN2:NM_006816:exon1:c.C85T:p.P29S,T,N,D,T,N,T
chr5,176831871,176831871,C,T,R010_S,F12,Missense_Mutation,NM_000505,exon7,c.G574A,p.V192M,SNP,SNVindel,exonic,F12,NA,nonsynonymous SNV,F12:NM_000505:exon7:c.G574A:p.V192M,T,N,N,D,N,T
chr5,176867759,176867759,G,A,R010_S,GRK6,Missense_Mutation,NM_001364164,exon13,c.G833A,p.G278D,SNP,SNVindel,exonic,GRK6,NA,nonsynonymous SNV,"GRK6:NM_001364164:exon13:c.G833A:p.G278D,GRK6:NM_001004105:exon14:c.G1463A:p.G488D,GRK6:NM_001004106:exon14:c.G1463A:p.G488D,GRK6:NM_002082:exon14:c.G1463A:p.G488D",D,D,D,T,D,T
chr5,178771023,178771023,C,T,R010_S,ADAMTS2,Silent,NM_014244,exon2,c.G279A,p.R93R,SNP,SNVindel,exonic,ADAMTS2,NA,synonymous SNV,"ADAMTS2:NM_014244:exon2:c.G279A:p.R93R,ADAMTS2:NM_021599:exon2:c.G279A:p.R93R",NA,NA,NA,NA,NA,NA
chr5,179069451,179069451,G,A,R010_S,C5orf60,Silent,NM_001142306,exon5,c.C723T,p.R241R,SNP,SNVindel,exonic,C5orf60,NA,synonymous SNV,"C5orf60:NM_001142306:exon5:c.C723T:p.R241R,C5orf60:NM_001305388:exon5:c.C735T:p.R245R",NA,NA,NA,NA,NA,NA
chr5,179106143,179106143,G,A,R010_S,CBY3,Missense_Mutation,NM_001164444,exon2,c.C170T,p.A57V,SNP,SNVindel,exonic,CBY3,NA,nonsynonymous SNV,CBY3:NM_001164444:exon2:c.C170T:p.A57V,T,.,N,.,N,T
chr5,179192477,179192477,C,T,R010_S,MAML1,Missense_Mutation,NM_014757,exon2,c.C466T,p.P156S,SNP,SNVindel,exonic,MAML1,NA,nonsynonymous SNV,MAML1:NM_014757:exon2:c.C466T:p.P156S,T,D,D,T,D,T
chr5,179221121,179221121,C,T,R010_S,LTC4S,Silent,NM_145867,exon1,c.C40T,p.L14L,SNP,SNVindel,exonic,LTC4S,NA,synonymous SNV,LTC4S:NM_145867:exon1:c.C40T:p.L14L,NA,NA,NA,NA,NA,NA
chr5,179321512,179321512,G,A,R010_S,TBC1D9B,Missense_Mutation,NM_015043,exon4,c.C451T,p.P151S,SNP,SNVindel,exonic,TBC1D9B,NA,nonsynonymous SNV,"TBC1D9B:NM_015043:exon4:c.C451T:p.P151S,TBC1D9B:NM_198868:exon4:c.C451T:p.P151S",T,D,D,D,D,D
chr5,179668100,179668100,C,T,R010_S,MAPK9,Silent,NM_002752,exon9,c.G927A,p.R309R,SNP,SNVindel,exonic,MAPK9,NA,synonymous SNV,"MAPK9:NM_002752:exon9:c.G927A:p.R309R,MAPK9:NM_139068:exon9:c.G927A:p.R309R,MAPK9:NM_139069:exon9:c.G927A:p.R309R,MAPK9:NM_139070:exon9:c.G927A:p.R309R,MAPK9:NM_001364607:exon10:c.G927A:p.R309R,MAPK9:NM_001364608:exon10:c.G927A:p.R309R,MAPK9:NM_001364609:exon10:c.G927A:p.R309R,MAPK9:NM_001364612:exon10:c.G849A:p.R283R,MAPK9:NM_001364613:exon10:c.G849A:p.R283R,MAPK9:NM_001364611:exon11:c.G849A:p.R283R",NA,NA,NA,NA,NA,NA
chr5,179707470,179707470,G,A,R010_S,MAPK9,Missense_Mutation,NM_001308244,exon1,c.C92T,p.P31L,SNP,SNVindel,exonic,MAPK9,NA,nonsynonymous SNV,"MAPK9:NM_001308244:exon1:c.C92T:p.P31L,MAPK9:NM_001135044:exon2:c.C92T:p.P31L,MAPK9:NM_002752:exon2:c.C92T:p.P31L,MAPK9:NM_139068:exon2:c.C92T:p.P31L,MAPK9:NM_139069:exon2:c.C92T:p.P31L,MAPK9:NM_139070:exon2:c.C92T:p.P31L,MAPK9:NM_001364607:exon3:c.C92T:p.P31L,MAPK9:NM_001364608:exon3:c.C92T:p.P31L,MAPK9:NM_001364609:exon3:c.C92T:p.P31L,MAPK9:NM_001364610:exon3:c.C92T:p.P31L",T,D,D,D,D,T
chr5,179992855,179992855,G,A,R010_S,CNOT6,Missense_Mutation,NM_001370474,exon6,c.G310A,p.D104N,SNP,SNVindel,exonic,CNOT6,NA,nonsynonymous SNV,"CNOT6:NM_001370474:exon6:c.G310A:p.D104N,CNOT6:NM_001370472:exon7:c.G595A:p.D199N,CNOT6:NM_001370473:exon7:c.G580A:p.D194N",D,D,D,T,D,T
chr5,180035974,180035974,C,T,R010_S,FLT4,Missense_Mutation,NM_001354989,exon29,c.G3887A,p.G1296D,SNP,SNVindel,exonic,FLT4,NA,nonsynonymous SNV,"FLT4:NM_001354989:exon29:c.G3887A:p.G1296D,FLT4:NM_002020:exon29:c.G3887A:p.G1296D,FLT4:NM_182925:exon29:c.G3887A:p.G1296D",T,.,N,T,N,T
chr5,180278054,180278054,C,T,R010_S,ZFP62,Silent,NM_001172638,exon2,c.G441A,p.G147G,SNP,SNVindel,exonic,ZFP62,NA,synonymous SNV,"ZFP62:NM_001172638:exon2:c.G441A:p.G147G,ZFP62:NM_152283:exon3:c.G342A:p.G114G",NA,NA,NA,NA,NA,NA
chr5,180431760,180431760,C,T,R010_S,BTNL3,Missense_Mutation,NM_197975,exon7,c.C860T,p.A287V,SNP,SNVindel,exonic,BTNL3,NA,nonsynonymous SNV,BTNL3:NM_197975:exon7:c.C860T:p.A287V,D,.,N,T,D,T
chr5,180477329,180477329,C,T,R010_S,BTNL9,Silent,NM_001308245,exon4,c.C696T,p.L232L,SNP,SNVindel,exonic,BTNL9,NA,synonymous SNV,"BTNL9:NM_001308245:exon4:c.C696T:p.L232L,BTNL9:NM_152547:exon4:c.C696T:p.L232L",NA,NA,NA,NA,NA,NA
chr5,180582593,180582593,C,T,R010_S,OR2V2,Silent,NM_206880,exon1,c.C651T,p.A217A,SNP,SNVindel,exonic,OR2V2,NA,synonymous SNV,OR2V2:NM_206880:exon1:c.C651T:p.A217A,NA,NA,NA,NA,NA,NA
chr5,180661595,180661595,C,T,R010_S,TRIM41,Silent,NM_033549,exon6,c.C1713T,p.S571S,SNP,SNVindel,exonic,TRIM41,NA,synonymous SNV,TRIM41:NM_033549:exon6:c.C1713T:p.S571S,NA,NA,NA,NA,NA,NA
chr5,180665218,180665218,C,T,R010_S,RACK1,Missense_Mutation,NM_006098,exon6,c.G658A,p.D220N,SNP,SNVindel,exonic,RACK1,NA,nonsynonymous SNV,RACK1:NM_006098:exon6:c.G658A:p.D220N,T,D,D,T,D,T
chr6,3456456,3456456,C,T,R010_S,SLC22A23,Missense_Mutation,NM_001286456,exon1,c.G338A,p.S113N,SNP,SNVindel,exonic,SLC22A23,NA,nonsynonymous SNV,"SLC22A23:NM_001286456:exon1:c.G338A:p.S113N,SLC22A23:NM_015482:exon1:c.G338A:p.S113N",T,.,D,T,N,T
chr6,6654808,6654808,C,T,R010_S,LY86,Missense_Mutation,NM_004271,exon5,c.C437T,p.T146I,SNP,SNVindel,exonic,LY86,NA,nonsynonymous SNV,LY86:NM_004271:exon5:c.C437T:p.T146I,D,N,N,T,N,T
chr6,7230492,7230492,G,A,R010_S,RREB1,Silent,NM_001003698,exon10,c.G2160A,p.K720K,SNP,SNVindel,exonic,RREB1,NA,synonymous SNV,"RREB1:NM_001003698:exon10:c.G2160A:p.K720K,RREB1:NM_001003699:exon10:c.G2160A:p.K720K,RREB1:NM_001003700:exon10:c.G2160A:p.K720K,RREB1:NM_001168344:exon10:c.G2160A:p.K720K",NA,NA,NA,NA,NA,NA
chr6,7248959,7248959,G,A,R010_S,RREB1,Missense_Mutation,NM_001003698,exon12,c.G4822A,p.A1608T,SNP,SNVindel,exonic,RREB1,NA,nonsynonymous SNV,"RREB1:NM_001003698:exon12:c.G4822A:p.A1608T,RREB1:NM_001003700:exon12:c.G4189A:p.A1397T,RREB1:NM_001168344:exon12:c.G4822A:p.A1608T,RREB1:NM_001003699:exon13:c.G4987A:p.A1663T",T,N,N,T,N,T
chr6,7585198,7585198,G,A,R010_S,DSP,Missense_Mutation,NM_001008844,exon24,c.G5906A,p.G1969D,SNP,SNVindel,exonic,DSP,NA,nonsynonymous SNV,"DSP:NM_001008844:exon24:c.G5906A:p.G1969D,DSP:NM_001319034:exon24:c.G6374A:p.G2125D,DSP:NM_004415:exon24:c.G7703A:p.G2568D",D,N,N,T,N,T
chr6,10407065,10407065,G,A,R010_S,TFAP2A,Missense_Mutation,NM_001032280,exon3,c.C475T,p.P159S,SNP,SNVindel,exonic,TFAP2A,NA,nonsynonymous SNV,"TFAP2A:NM_001032280:exon3:c.C475T:p.P159S,TFAP2A:NM_001042425:exon3:c.C481T:p.P161S,TFAP2A:NM_003220:exon3:c.C493T:p.P165S",T,D,D,D,N,T
chr6,15627665,15627665,C,T,R010_S,DTNBP1,Silent,NM_001271669,exon3,c.G159A,p.E53E,SNP,SNVindel,exonic,DTNBP1,NA,synonymous SNV,"DTNBP1:NM_001271669:exon3:c.G159A:p.E53E,DTNBP1:NM_001271668:exon4:c.G213A:p.E71E,DTNBP1:NM_001271667:exon5:c.G21A:p.E7E,DTNBP1:NM_032122:exon5:c.G264A:p.E88E,DTNBP1:NM_183040:exon5:c.G264A:p.E88E",NA,NA,NA,NA,NA,NA
chr6,16327915,16327915,A,C,R010_S,ATXN1,Missense_Mutation,NM_001128164,exon7,c.T627G,p.H209Q,SNP,SNVindel,exonic,ATXN1,NA,nonsynonymous SNV,"ATXN1:NM_001128164:exon7:c.T627G:p.H209Q,ATXN1:NM_000332:exon8:c.T627G:p.H209Q",T,.,N,T,N,T
chr6,17601327,17601327,C,T,R010_S,FAM8A1,Silent,NM_016255,exon1,c.C687T,p.S229S,SNP,SNVindel,exonic,FAM8A1,NA,synonymous SNV,FAM8A1:NM_016255:exon1:c.C687T:p.S229S,NA,NA,NA,NA,NA,NA
chr6,22290530,22290530,G,A,R010_S,PRL,Missense_Mutation,NM_000948,exon4,c.C365T,p.P122L,SNP,SNVindel,exonic,PRL,NA,nonsynonymous SNV,"PRL:NM_000948:exon4:c.C365T:p.P122L,PRL:NM_001163558:exon5:c.C365T:p.P122L",D,D,D,D,D,D
chr6,25851027,25851027,G,A,R010_S,SLC17A3,Missense_Mutation,NM_006632,exon6,c.C557T,p.T186I,SNP,SNVindel,exonic,SLC17A3,NA,nonsynonymous SNV,"SLC17A3:NM_006632:exon6:c.C557T:p.T186I,SLC17A3:NM_001098486:exon7:c.C791T:p.T264I",T,N,N,T,N,T
chr6,26056321,26056321,G,A,R010_S,HIST1H1C,Silent,NM_005319,exon1,c.C336T,p.A112A,SNP,SNVindel,exonic,HIST1H1C,NA,synonymous SNV,HIST1H1C:NM_005319:exon1:c.C336T:p.A112A,NA,NA,NA,NA,NA,NA
chr6,26124567,26124567,G,A,R010_S,HIST1H2AC,Missense_Mutation,NM_003512,exon1,c.G107A,p.R36H,SNP,SNVindel,exonic,HIST1H2AC,NA,nonsynonymous SNV,HIST1H2AC:NM_003512:exon1:c.G107A:p.R36H,D,D,D,T,D,T
chr6,26234585,26234585,C,T,R010_S,HIST1H1D,Missense_Mutation,NM_005320,exon1,c.G577A,p.A193T,SNP,SNVindel,exonic,HIST1H1D,NA,nonsynonymous SNV,HIST1H1D:NM_005320:exon1:c.G577A:p.A193T,D,N,D,T,N,T
chr6,26250466,26250466,T,G,R010_S,HIST1H3F,Missense_Mutation,NM_021018,exon1,c.A368C,p.K123T,SNP,SNVindel,exonic,HIST1H3F,NA,nonsynonymous SNV,HIST1H3F:NM_021018:exon1:c.A368C:p.K123T,.,.,D,.,.,T
chr6,26509322,26509322,G,A,R010_S,BTN1A1,Missense_Mutation,NM_001732,exon8,c.G1501A,p.G501R,SNP,SNVindel,exonic,BTN1A1,NA,nonsynonymous SNV,BTN1A1:NM_001732:exon8:c.G1501A:p.G501R,T,N,N,T,N,T
chr6,27107356,27107356,C,T,R010_S,HIST1H4I,Missense_Mutation,NM_003495,exon1,c.C269T,p.A90V,SNP,SNVindel,exonic,HIST1H4I,NA,nonsynonymous SNV,HIST1H4I:NM_003495:exon1:c.C269T:p.A90V,.,U,D,.,.,T
chr6,27369200,27369200,C,T,R010_S,ZNF391,Missense_Mutation,NM_001076781,exon3,c.C1051T,p.H351Y,SNP,SNVindel,exonic,ZNF391,NA,nonsynonymous SNV,"ZNF391:NM_001076781:exon3:c.C1051T:p.H351Y,ZNF391:NM_001322293:exon3:c.C1051T:p.H351Y,ZNF391:NM_001322288:exon4:c.C1051T:p.H351Y,ZNF391:NM_001322289:exon4:c.C1051T:p.H351Y",D,.,N,D,D,D
chr6,27776290,27776290,C,T,R010_S,HIST1H2AI,Silent,NM_003509,exon1,c.C303T,p.V101V,SNP,SNVindel,exonic,HIST1H2AI,NA,synonymous SNV,HIST1H2AI:NM_003509:exon1:c.C303T:p.V101V,NA,NA,NA,NA,NA,NA
chr6,27861530,27861530,C,T,R010_S,HIST1H2BO,Missense_Mutation,NM_003527,exon1,c.C290T,p.T97M,SNP,SNVindel,exonic,HIST1H2BO,NA,nonsynonymous SNV,HIST1H2BO:NM_003527:exon1:c.C290T:p.T97M,.,U,D,.,.,T
chr6,28053429,28053429,C,T,R010_S,ZNF165,Silent,NM_003447,exon2,c.C171T,p.Y57Y,SNP,SNVindel,exonic,ZNF165,NA,synonymous SNV,ZNF165:NM_003447:exon2:c.C171T:p.Y57Y,NA,NA,NA,NA,NA,NA
chr6,28294303,28294303,C,T,R010_S,ZSCAN31,Silent,NM_001243243,exon3,c.G384A,p.R128R,SNP,SNVindel,exonic,ZSCAN31,NA,synonymous SNV,"ZSCAN31:NM_001243243:exon3:c.G384A:p.R128R,ZSCAN31:NM_001243244:exon3:c.G384A:p.R128R,ZSCAN31:NM_001135216:exon4:c.G861A:p.R287R,ZSCAN31:NM_001243241:exon4:c.G861A:p.R287R,ZSCAN31:NM_001243242:exon4:c.G384A:p.R128R,ZSCAN31:NM_030899:exon4:c.G861A:p.R287R,ZSCAN31:NM_001135215:exon8:c.G861A:p.R287R,ZSCAN31:NM_145909:exon8:c.G861A:p.R287R",NA,NA,NA,NA,NA,NA
chr6,33635632,33635632,G,A,R010_S,ITPR3,Missense_Mutation,NM_002224,exon16,c.G1777A,p.D593N,SNP,SNVindel,exonic,ITPR3,NA,nonsynonymous SNV,ITPR3:NM_002224:exon16:c.G1777A:p.D593N,D,D,D,D,D,D
chr6,34827127,34827127,G,A,R010_S,UHRF1BP1,Silent,NM_017754,exon14,c.G2994A,p.R998R,SNP,SNVindel,exonic,UHRF1BP1,NA,synonymous SNV,UHRF1BP1:NM_017754:exon14:c.G2994A:p.R998R,NA,NA,NA,NA,NA,NA
chr6,35209403,35209403,C,T,R010_S,SCUBE3,Silent,NM_001303136,exon11,c.C1276T,p.L426L,SNP,SNVindel,exonic,SCUBE3,NA,synonymous SNV,"SCUBE3:NM_001303136:exon11:c.C1276T:p.L426L,SCUBE3:NM_152753:exon11:c.C1279T:p.L427L",NA,NA,NA,NA,NA,NA
chr6,35392445,35392445,C,T,R010_S,PPARD,Missense_Mutation,NM_001171820,exon5,c.C673T,p.P225S,SNP,SNVindel,exonic,PPARD,NA,nonsynonymous SNV,"PPARD:NM_001171820:exon5:c.C673T:p.P225S,PPARD:NM_001171819:exon6:c.C850T:p.P284S,PPARD:NM_006238:exon7:c.C967T:p.P323S,PPARD:NM_177435:exon7:c.C967T:p.P323S,PPARD:NM_001171818:exon8:c.C967T:p.P323S",D,D,D,D,D,D
chr6,35425716,35425716,C,T,R010_S,FANCE,Silent,NM_021922,exon4,c.C924T,p.A308A,SNP,SNVindel,exonic,FANCE,NA,synonymous SNV,FANCE:NM_021922:exon4:c.C924T:p.A308A,NA,NA,NA,NA,NA,NA
chr6,36168425,36168425,G,A,R010_S,BRPF3,Missense_Mutation,NM_015695,exon2,c.G326A,p.G109D,SNP,SNVindel,exonic,BRPF3,NA,nonsynonymous SNV,BRPF3:NM_015695:exon2:c.G326A:p.G109D,D,N,D,T,D,T
chr6,36238354,36238354,C,T,R010_S,PNPLA1,Missense_Mutation,NM_001145717,exon1,c.C118T,p.P40S,SNP,SNVindel,exonic,PNPLA1,NA,nonsynonymous SNV,PNPLA1:NM_001145717:exon1:c.C118T:p.P40S,D,U,D,T,D,D
chr6,36270046,36270046,G,A,R010_S,PNPLA1,Missense_Mutation,NM_001145716,exon6,c.G926A,p.G309E,SNP,SNVindel,exonic,PNPLA1,NA,nonsynonymous SNV,"PNPLA1:NM_001145716:exon6:c.G926A:p.G309E,PNPLA1:NM_001145717:exon6:c.G1184A:p.G395E,PNPLA1:NM_173676:exon6:c.G899A:p.G300E",T,N,N,T,N,T
chr6,37605195,37605195,G,A,R010_S,MDGA1,Silent,NM_153487,exon17,c.C2817T,p.S939S,SNP,SNVindel,exonic,MDGA1,NA,synonymous SNV,MDGA1:NM_153487:exon17:c.C2817T:p.S939S,NA,NA,NA,NA,NA,NA
chr6,38029499,38029499,C,T,R010_S,ZFAND3,Silent,NM_021943,exon3,c.C243T,p.S81S,SNP,SNVindel,exonic,ZFAND3,NA,synonymous SNV,ZFAND3:NM_021943:exon3:c.C243T:p.S81S,NA,NA,NA,NA,NA,NA
chr6,38142845,38142845,G,A,R010_S,BTBD9,Silent,NM_152733,exon10,c.C1551T,p.S517S,SNP,SNVindel,exonic,BTBD9,NA,synonymous SNV,"BTBD9:NM_152733:exon10:c.C1551T:p.S517S,BTBD9:NM_001099272:exon11:c.C1755T:p.S585S,BTBD9:NM_001172418:exon11:c.C1665T:p.S555S,BTBD9:NM_052893:exon12:c.C1755T:p.S585S",NA,NA,NA,NA,NA,NA
chr6,38820478,38820478,C,T,R010_S,DNAH8,Silent,NM_001371,exon39,c.C4824T,p.L1608L,SNP,SNVindel,exonic,DNAH8,NA,synonymous SNV,"DNAH8:NM_001371:exon39:c.C4824T:p.L1608L,DNAH8:NM_001206927:exon40:c.C5475T:p.L1825L",NA,NA,NA,NA,NA,NA
chr6,38893852,38893852,G,A,R010_S,DNAH8,Missense_Mutation,NM_001371,exon73,c.G10333A,p.G3445R,SNP,SNVindel,exonic,DNAH8,NA,nonsynonymous SNV,"DNAH8:NM_001371:exon73:c.G10333A:p.G3445R,DNAH8:NM_001206927:exon74:c.G10984A:p.G3662R",D,D,D,T,D,D
chr6,39284208,39284208,G,A,R010_S,KCNK16,Silent,NM_001135106,exon5,c.C672T,p.P224P,SNP,SNVindel,exonic,KCNK16,NA,synonymous SNV,"KCNK16:NM_001135106:exon5:c.C672T:p.P224P,KCNK16:NM_032115:exon5:c.C672T:p.P224P",NA,NA,NA,NA,NA,NA
chr6,39290116,39290116,C,T,R010_S,KCNK16,Silent,NM_001135105,exon1,c.G201A,p.E67E,SNP,SNVindel,exonic,KCNK16,NA,synonymous SNV,"KCNK16:NM_001135105:exon1:c.G201A:p.E67E,KCNK16:NM_001135106:exon1:c.G201A:p.E67E,KCNK16:NM_001135107:exon1:c.G201A:p.E67E,KCNK16:NM_032115:exon1:c.G201A:p.E67E,KCNK16:NM_001363784:exon2:c.G6A:p.E2E",NA,NA,NA,NA,NA,NA
chr6,41712402,41712402,G,A,R010_S,PGC,Silent,NM_001166424,exon2,c.C204T,p.Y68Y,SNP,SNVindel,exonic,PGC,NA,synonymous SNV,"PGC:NM_001166424:exon2:c.C204T:p.Y68Y,PGC:NM_002630:exon2:c.C204T:p.Y68Y",NA,NA,NA,NA,NA,NA
chr6,41754692,41754692,G,A,R010_S,PRICKLE4,Missense_Mutation,NM_013397,exon8,c.G980A,p.R327H,SNP,SNVindel,exonic,PRICKLE4,NA,nonsynonymous SNV,PRICKLE4:NM_013397:exon8:c.G980A:p.R327H,T,N,N,D,N,T
chr6,41889340,41889340,G,A,R010_S,BYSL,Missense_Mutation,NM_004053,exon1,c.G40A,p.E14K,SNP,SNVindel,exonic,BYSL,NA,nonsynonymous SNV,BYSL:NM_004053:exon1:c.G40A:p.E14K,T,N,N,T,N,T
chr6,41909288,41909288,G,A,R010_S,CCND3,Silent,NM_001136125,exon1,c.C100T,p.L34L,SNP,SNVindel,exonic,CCND3,NA,synonymous SNV,"CCND3:NM_001136125:exon1:c.C100T:p.L34L,CCND3:NM_001760:exon1:c.C100T:p.L34L",NA,NA,NA,NA,NA,NA
chr6,42025247,42025247,C,T,R010_S,TAF8,Missense_Mutation,NM_138572,exon5,c.C485T,p.T162I,SNP,SNVindel,exonic,TAF8,NA,nonsynonymous SNV,TAF8:NM_138572:exon5:c.C485T:p.T162I,D,D,D,.,D,D
chr6,42797126,42797126,G,A,R010_S,BICRAL,Missense_Mutation,NM_015349,exon5,c.G1055A,p.G352D,SNP,SNVindel,exonic,BICRAL,NA,nonsynonymous SNV,"BICRAL:NM_015349:exon5:c.G1055A:p.G352D,BICRAL:NM_001318819:exon7:c.G1055A:p.G352D",T,D,D,T,N,T
chr6,42832961,42832961,G,A,R010_S,BICRAL,Missense_Mutation,NM_015349,exon12,c.G3017A,p.S1006N,SNP,SNVindel,exonic,BICRAL,NA,nonsynonymous SNV,"BICRAL:NM_015349:exon12:c.G3017A:p.S1006N,BICRAL:NM_001318819:exon14:c.G3017A:p.S1006N",D,D,D,T,N,T
chr6,42902288,42902288,G,A,R010_S,CNPY3,Missense_Mutation,NM_001318842,exon2,c.G227A,p.G76D,SNP,SNVindel,exonic,CNPY3,NA,nonsynonymous SNV,"CNPY3:NM_001318842:exon2:c.G227A:p.G76D,CNPY3:NM_001318847:exon2:c.G227A:p.G76D,CNPY3:NM_001318848:exon2:c.G227A:p.G76D,CNPY3:NM_006586:exon2:c.G227A:p.G76D",D,D,D,T,D,T
chr6,42935219,42935219,G,A,R010_S,PEX6,Missense_Mutation,NM_000287,exon8,c.C1771T,p.L591F,SNP,SNVindel,exonic,PEX6,NA,nonsynonymous SNV,"PEX6:NM_000287:exon8:c.C1771T:p.L591F,PEX6:NM_001316313:exon8:c.C1507T:p.L503F",T,D,D,T,N,T
chr6,42957352,42957352,C,T,R010_S,PPP2R5D,Missense_Mutation,NM_006245,exon2,c.C31T,p.P11S,SNP,SNVindel,exonic,PPP2R5D,NA,nonsynonymous SNV,"PPP2R5D:NM_006245:exon2:c.C31T:p.P11S,PPP2R5D:NM_180976:exon2:c.C31T:p.P11S",T,N,D,T,N,T
chr6,42978974,42978974,G,A,R010_S,PPP2R5D,Missense_Mutation,NM_180977,exon14,c.G1441A,p.A481T,SNP,SNVindel,exonic,PPP2R5D,NA,nonsynonymous SNV,"PPP2R5D:NM_180977:exon14:c.G1441A:p.A481T,PPP2R5D:NM_001270476:exon16:c.G1306A:p.A436T,PPP2R5D:NM_006245:exon16:c.G1759A:p.A587T,PPP2R5D:NM_180976:exon16:c.G1663A:p.A555T",T,D,D,T,N,T
chr6,43008301,43008301,G,A,R010_S,CUL7,Silent,NM_001168370,exon21,c.C4242T,p.L1414L,SNP,SNVindel,exonic,CUL7,NA,synonymous SNV,"CUL7:NM_001168370:exon21:c.C4242T:p.L1414L,CUL7:NM_014780:exon21:c.C3990T:p.L1330L",NA,NA,NA,NA,NA,NA
chr6,43141618,43141618,G,A,R010_S,SRF,Missense_Mutation,NM_003131,exon2,c.G547A,p.V183M,SNP,SNVindel,exonic,SRF,NA,nonsynonymous SNV,SRF:NM_003131:exon2:c.G547A:p.V183M,D,D,D,D,D,D
chr6,43184001,43184001,G,A,R010_S,CUL9,Silent,NM_015089,exon31,c.G6042A,p.Q2014Q,SNP,SNVindel,exonic,CUL9,NA,synonymous SNV,CUL9:NM_015089:exon31:c.G6042A:p.Q2014Q,NA,NA,NA,NA,NA,NA
chr6,43230584,43230584,C,T,R010_S,TTBK1,Silent,NM_032538,exon13,c.C1482T,p.A494A,SNP,SNVindel,exonic,TTBK1,NA,synonymous SNV,TTBK1:NM_032538:exon13:c.C1482T:p.A494A,NA,NA,NA,NA,NA,NA
chr6,43250808,43250808,C,T,R010_S,TTBK1,Missense_Mutation,NM_032538,exon14,c.C2330T,p.A777V,SNP,SNVindel,exonic,TTBK1,NA,nonsynonymous SNV,TTBK1:NM_032538:exon14:c.C2330T:p.A777V,T,N,N,T,N,T
chr6,43323703,43323703,G,A,R010_S,ZNF318,Missense_Mutation,NM_014345,exon4,c.C1369T,p.P457S,SNP,SNVindel,exonic,ZNF318,NA,nonsynonymous SNV,ZNF318:NM_014345:exon4:c.C1369T:p.P457S,T,N,N,T,N,T
chr6,43399876,43399876,C,T,R010_S,ABCC10,Missense_Mutation,NM_033450,exon1,c.C29T,p.P10L,SNP,SNVindel,exonic,ABCC10,NA,nonsynonymous SNV,ABCC10:NM_033450:exon1:c.C29T:p.P10L,D,.,N,T,N,T
chr6,43410714,43410714,G,A,R010_S,ABCC10,Missense_Mutation,NM_033450,exon8,c.G2149A,p.E717K,SNP,SNVindel,exonic,ABCC10,NA,nonsynonymous SNV,"ABCC10:NM_033450:exon8:c.G2149A:p.E717K,ABCC10:NM_001198934:exon10:c.G2233A:p.E745K,ABCC10:NM_001350518:exon10:c.G901A:p.E301K",T,D,N,D,N,T
chr6,43417789,43417789,G,A,R010_S,ABCC10,Missense_Mutation,NM_033450,exon20,c.G4355A,p.S1452N,SNP,SNVindel,exonic,ABCC10,NA,nonsynonymous SNV,"ABCC10:NM_033450:exon20:c.G4355A:p.S1452N,ABCC10:NM_001198934:exon22:c.G4439A:p.S1480N,ABCC10:NM_001350518:exon22:c.G3107A:p.S1036N",T,N,D,D,N,T
chr6,44081879,44081879,C,T,R010_S,MRPL14,Missense_Mutation,NM_001318771,exon2,c.G37A,p.G13R,SNP,SNVindel,exonic,MRPL14,NA,nonsynonymous SNV,"MRPL14:NM_001318771:exon2:c.G37A:p.G13R,MRPL14:NM_001318767:exon3:c.G139A:p.G47R,MRPL14:NM_001318768:exon3:c.G139A:p.G47R,MRPL14:NM_001318769:exon3:c.G172A:p.G58R,MRPL14:NM_001318770:exon3:c.G298A:p.G100R,MRPL14:NM_032111:exon3:c.G139A:p.G47R",D,D,D,.,D,D
chr6,44197433,44197433,G,A,R010_S,SLC29A1,Silent,NM_001304463,exon4,c.G345A,p.R115R,SNP,SNVindel,exonic,SLC29A1,NA,synonymous SNV,"SLC29A1:NM_001304463:exon4:c.G345A:p.R115R,SLC29A1:NM_001304465:exon4:c.G297A:p.R99R,SLC29A1:NM_001304466:exon4:c.G294A:p.R98R,SLC29A1:NM_001078175:exon5:c.G219A:p.R73R,SLC29A1:NM_001078177:exon5:c.G219A:p.R73R,SLC29A1:NM_001304462:exon5:c.G456A:p.R152R",NA,NA,NA,NA,NA,NA
chr6,44272478,44272478,G,A,R010_S,AARS2,Silent,NM_020745,exon12,c.C1656T,p.G552G,SNP,SNVindel,exonic,AARS2,NA,synonymous SNV,AARS2:NM_020745:exon12:c.C1656T:p.G552G,NA,NA,NA,NA,NA,NA
chr6,46111336,46111336,C,T,R010_S,ENPP4,Missense_Mutation,NM_014936,exon4,c.C1321T,p.L441F,SNP,SNVindel,exonic,ENPP4,NA,nonsynonymous SNV,ENPP4:NM_014936:exon4:c.C1321T:p.L441F,D,N,D,T,N,T
chr6,46661446,46661446,G,A,R010_S,TDRD6,Missense_Mutation,NM_001010870,exon1,c.G5581A,p.V1861M,SNP,SNVindel,exonic,TDRD6,NA,nonsynonymous SNV,"TDRD6:NM_001010870:exon1:c.G5581A:p.V1861M,TDRD6:NM_001168359:exon1:c.G5581A:p.V1861M",D,N,N,T,N,T
chr6,47846682,47846682,G,A,R010_S,PTCHD4,Missense_Mutation,NM_001013732,exon3,c.C1898T,p.S633F,SNP,SNVindel,exonic,PTCHD4,NA,nonsynonymous SNV,PTCHD4:NM_001013732:exon3:c.C1898T:p.S633F,D,D,D,D,D,D
chr6,47847284,47847284,C,T,R010_S,PTCHD4,Silent,NM_001013732,exon3,c.G1296A,p.Q432Q,SNP,SNVindel,exonic,PTCHD4,NA,synonymous SNV,PTCHD4:NM_001013732:exon3:c.G1296A:p.Q432Q,NA,NA,NA,NA,NA,NA
chr6,49425702,49425702,C,A,R010_S,MMUT,Missense_Mutation,NM_000255,exon3,c.G455T,p.R152L,SNP,SNVindel,exonic,MMUT,NA,nonsynonymous SNV,MMUT:NM_000255:exon3:c.G455T:p.R152L,D,D,D,D,D,D
chr6,51609273,51609273,C,T,R010_S,PKHD1,Missense_Mutation,NM_138694,exon60,c.G10066A,p.D3356N,SNP,SNVindel,exonic,PKHD1,NA,nonsynonymous SNV,"PKHD1:NM_138694:exon60:c.G10066A:p.D3356N,PKHD1:NM_170724:exon60:c.G10066A:p.D3356N",D,D,D,D,D,D
chr6,55360345,55360345,C,T,R010_S,HMGCLL1,Missense_Mutation,NM_001287753,exon4,c.G358A,p.V120M,SNP,SNVindel,exonic,HMGCLL1,NA,nonsynonymous SNV,"HMGCLL1:NM_001287753:exon4:c.G358A:p.V120M,HMGCLL1:NM_001287741:exon6:c.G571A:p.V191M,HMGCLL1:NM_001042406:exon7:c.G667A:p.V223M,HMGCLL1:NM_001287746:exon8:c.G370A:p.V124M,HMGCLL1:NM_019036:exon8:c.G757A:p.V253M",D,D,D,D,D,D
chr6,56330884,56330884,G,A,R010_S,DST,Missense_Mutation,NM_015548,exon80,c.C14810T,p.P4937L,SNP,SNVindel,exonic,DST,NA,nonsynonymous SNV,"DST:NM_015548:exon80:c.C14810T:p.P4937L,DST:NM_183380:exon90:c.C15788T:p.P5263L,DST:NM_001144770:exon91:c.C15908T:p.P5303L,DST:NM_001144769:exon93:c.C16322T:p.P5441L",D,D,.,D,D,D
chr6,56457072,56457072,G,A,R010_S,DST,Missense_Mutation,NM_015548,exon30,c.C4942T,p.L1648F,SNP,SNVindel,exonic,DST,NA,nonsynonymous SNV,"DST:NM_015548:exon30:c.C4942T:p.L1648F,DST:NM_183380:exon40:c.C5920T:p.L1974F,DST:NM_001144770:exon41:c.C6040T:p.L2014F,DST:NM_001144769:exon43:c.C6454T:p.L2152F",T,D,.,T,D,T
chr6,57189027,57189027,G,A,R010_S,PRIM2,Missense_Mutation,NM_001282487,exon4,c.G287A,p.R96Q,SNP,SNVindel,exonic,PRIM2,NA,nonsynonymous SNV,"PRIM2:NM_001282487:exon4:c.G287A:p.R96Q,PRIM2:NM_001282488:exon4:c.G287A:p.R96Q",.,.,.,.,.,.
chr6,62688008,62688008,C,T,R010_S,KHDRBS2,Missense_Mutation,NM_001350622,exon4,c.G446A,p.S149N,SNP,SNVindel,exonic,KHDRBS2,NA,nonsynonymous SNV,"KHDRBS2:NM_001350622:exon4:c.G446A:p.S149N,KHDRBS2:NM_152688:exon4:c.G446A:p.S149N",D,D,D,T,N,T
chr6,64395100,64395100,C,T,R010_S,PHF3,Missense_Mutation,NM_001370349,exon3,c.C1213T,p.P405S,SNP,SNVindel,exonic,PHF3,NA,nonsynonymous SNV,"PHF3:NM_001370349:exon3:c.C1213T:p.P405S,PHF3:NM_015153:exon3:c.C1477T:p.P493S,PHF3:NM_001290260:exon4:c.C1477T:p.P493S,PHF3:NM_001370348:exon4:c.C1477T:p.P493S,PHF3:NM_001290259:exon5:c.C1213T:p.P405S",T,N,N,T,N,T
chr6,64423008,64423008,C,T,R010_S,PHF3,Missense_Mutation,NM_001370349,exon15,c.C5260T,p.P1754S,SNP,SNVindel,exonic,PHF3,NA,nonsynonymous SNV,"PHF3:NM_001370349:exon15:c.C5260T:p.P1754S,PHF3:NM_001370350:exon15:c.C3331T:p.P1111S,PHF3:NM_015153:exon15:c.C5524T:p.P1842S,PHF3:NM_001370348:exon16:c.C5524T:p.P1842S,PHF3:NM_001290259:exon17:c.C5260T:p.P1754S",D,N,D,T,D,T
chr6,64430782,64430782,C,T,R010_S,EYS,Missense_Mutation,NM_001142800,exon43,c.G9145A,p.V3049I,SNP,SNVindel,exonic,EYS,NA,nonsynonymous SNV,"EYS:NM_001142800:exon43:c.G9145A:p.V3049I,EYS:NM_001292009:exon44:c.G9208A:p.V3070I",T,N,N,T,N,T
chr6,70447868,70447868,G,A,R010_S,LMBRD1,Missense_Mutation,NM_001363722,exon7,c.C383T,p.T128I,SNP,SNVindel,exonic,LMBRD1,NA,nonsynonymous SNV,"LMBRD1:NM_001363722:exon7:c.C383T:p.T128I,LMBRD1:NM_001367271:exon7:c.C383T:p.T128I,LMBRD1:NM_001367272:exon7:c.C383T:p.T128I,LMBRD1:NM_018368:exon7:c.C602T:p.T201I",D,D,D,T,N,T
chr6,70951674,70951674,C,T,R010_S,COL9A1,Missense_Mutation,NM_078485,exon24,c.G1262A,p.G421D,SNP,SNVindel,exonic,COL9A1,NA,nonsynonymous SNV,"COL9A1:NM_078485:exon24:c.G1262A:p.G421D,COL9A1:NM_001851:exon30:c.G1991A:p.G664D",D,D,D,D,D,D
chr6,72806715,72806715,G,A,R010_S,RIMS1,Silent,NM_001350412,exon2,c.G228A,p.R76R,SNP,SNVindel,exonic,RIMS1,NA,synonymous SNV,"RIMS1:NM_001350412:exon2:c.G228A:p.R76R,RIMS1:NM_001350411:exon3:c.G306A:p.R102R,RIMS1:NM_001350413:exon3:c.G309A:p.R103R,RIMS1:NM_014989:exon3:c.G309A:p.R103R",NA,NA,NA,NA,NA,NA
chr6,73902336,73902336,C,T,R010_S,KCNQ5,Silent,NM_001160134,exon11,c.C1428T,p.S476S,SNP,SNVindel,exonic,KCNQ5,NA,synonymous SNV,"KCNQ5:NM_001160134:exon11:c.C1428T:p.S476S,KCNQ5:NM_001160130:exon12:c.C1731T:p.S577S,KCNQ5:NM_001160132:exon13:c.C1788T:p.S596S,KCNQ5:NM_019842:exon13:c.C1758T:p.S586S,KCNQ5:NM_001160133:exon14:c.C1815T:p.S605S",NA,NA,NA,NA,NA,NA
chr6,74320127,74320127,G,A,R010_S,SLC17A5,Missense_Mutation,NM_012434,exon9,c.C1255T,p.P419S,SNP,SNVindel,exonic,SLC17A5,NA,nonsynonymous SNV,SLC17A5:NM_012434:exon9:c.C1255T:p.P419S,D,D,D,T,D,D
chr6,75829103,75829103,G,A,R010_S,COL12A1,Silent,NM_080645,exon30,c.C3681T,p.L1227L,SNP,SNVindel,exonic,COL12A1,NA,synonymous SNV,"COL12A1:NM_080645:exon30:c.C3681T:p.L1227L,COL12A1:NM_004370:exon45:c.C7173T:p.L2391L",NA,NA,NA,NA,NA,NA
chr6,75848220,75848220,G,A,R010_S,COL12A1,Missense_Mutation,NM_080645,exon14,c.C1682T,p.T561I,SNP,SNVindel,exonic,COL12A1,NA,nonsynonymous SNV,"COL12A1:NM_080645:exon14:c.C1682T:p.T561I,COL12A1:NM_004370:exon29:c.C5174T:p.T1725I",T,D,D,T,N,T
chr6,76024256,76024256,C,T,R010_S,FILIP1,Missense_Mutation,NM_001300866,exon5,c.G1292A,p.R431K,SNP,SNVindel,exonic,FILIP1,NA,nonsynonymous SNV,"FILIP1:NM_001300866:exon5:c.G1292A:p.R431K,FILIP1:NM_015687:exon5:c.G1292A:p.R431K,FILIP1:NM_001289987:exon6:c.G1301A:p.R434K",T,D,D,T,N,T
chr6,76063334,76063334,C,G,R010_S,FILIP1,Missense_Mutation,NM_001300866,exon4,c.G550C,p.E184Q,SNP,SNVindel,exonic,FILIP1,NA,nonsynonymous SNV,"FILIP1:NM_001300866:exon4:c.G550C:p.E184Q,FILIP1:NM_015687:exon4:c.G550C:p.E184Q,FILIP1:NM_001289987:exon5:c.G559C:p.E187Q",D,D,D,T,N,T
chr6,79713523,79713523,C,T,R010_S,PHIP,Missense_Mutation,NM_017934,exon16,c.G1577A,p.G526D,SNP,SNVindel,exonic,PHIP,NA,nonsynonymous SNV,PHIP:NM_017934:exon16:c.G1577A:p.G526D,D,D,D,T,D,T
chr6,80732123,80732123,C,T,R010_S,TTK,Silent,NM_001166691,exon11,c.C1191T,p.N397N,SNP,SNVindel,exonic,TTK,NA,synonymous SNV,"TTK:NM_001166691:exon11:c.C1191T:p.N397N,TTK:NM_003318:exon11:c.C1191T:p.N397N",NA,NA,NA,NA,NA,NA
chr6,82461770,82461770,C,T,R010_S,TENT5A,Missense_Mutation,NM_017633,exon2,c.G89A,p.G30D,SNP,SNVindel,exonic,TENT5A,NA,nonsynonymous SNV,TENT5A:NM_017633:exon2:c.G89A:p.G30D,D,N,N,D,N,T
chr6,84665132,84665132,G,A,R010_S,CYB5R4,Missense_Mutation,NM_016230,exon15,c.G1462A,p.V488I,SNP,SNVindel,exonic,CYB5R4,NA,nonsynonymous SNV,CYB5R4:NM_016230:exon15:c.G1462A:p.V488I,T,N,N,D,N,T
chr6,85473694,85473694,C,T,R010_S,TBX18,Missense_Mutation,NM_001080508,exon1,c.G206A,p.G69E,SNP,SNVindel,exonic,TBX18,NA,nonsynonymous SNV,TBX18:NM_001080508:exon1:c.G206A:p.G69E,T,N,N,D,N,T
chr6,87967117,87967117,G,A,R010_S,ZNF292,Missense_Mutation,NM_015021,exon8,c.G3770A,p.S1257N,SNP,SNVindel,exonic,ZNF292,NA,nonsynonymous SNV,"ZNF292:NM_015021:exon8:c.G3770A:p.S1257N,ZNF292:NM_001351444:exon9:c.G3350A:p.S1117N",T,D,D,T,N,T
chr6,90392976,90392976,C,T,R010_S,MDN1,Missense_Mutation,NM_014611,exon73,c.G11977A,p.D3993N,SNP,SNVindel,exonic,MDN1,NA,nonsynonymous SNV,MDN1:NM_014611:exon73:c.G11977A:p.D3993N,T,N,N,T,N,T
chr6,90399655,90399655,G,A,R010_S,MDN1,Missense_Mutation,NM_014611,exon65,c.C10957T,p.L3653F,SNP,SNVindel,exonic,MDN1,NA,nonsynonymous SNV,MDN1:NM_014611:exon65:c.C10957T:p.L3653F,T,N,N,T,N,T
chr6,90577030,90577030,C,T,R010_S,CASP8AP2,Missense_Mutation,NM_001137667,exon8,c.C4021T,p.P1341S,SNP,SNVindel,exonic,CASP8AP2,NA,nonsynonymous SNV,"CASP8AP2:NM_001137667:exon8:c.C4021T:p.P1341S,CASP8AP2:NM_001137668:exon8:c.C4021T:p.P1341S,CASP8AP2:NM_012115:exon8:c.C4021T:p.P1341S",.,.,.,.,.,.
chr6,99323403,99323403,G,A,R010_S,FBXL4,Silent,NM_012160,exon8,c.C1590T,p.H530H,SNP,SNVindel,exonic,FBXL4,NA,synonymous SNV,"FBXL4:NM_012160:exon8:c.C1590T:p.H530H,FBXL4:NM_001278716:exon9:c.C1590T:p.H530H",NA,NA,NA,NA,NA,NA
chr6,101053552,101053552,G,A,R010_S,ASCC3,Missense_Mutation,NM_006828,exon33,c.C5069T,p.A1690V,SNP,SNVindel,exonic,ASCC3,NA,nonsynonymous SNV,ASCC3:NM_006828:exon33:c.C5069T:p.A1690V,D,D,D,D,D,D
chr6,107100245,107100245,C,T,R010_S,QRSL1,Missense_Mutation,NM_018292,exon6,c.C719T,p.A240V,SNP,SNVindel,exonic,QRSL1,NA,nonsynonymous SNV,QRSL1:NM_018292:exon6:c.C719T:p.A240V,T,D,D,T,N,T
chr6,107392145,107392145,C,T,R010_S,BEND3,Missense_Mutation,NM_001367314,exon4,c.G250A,p.A84T,SNP,SNVindel,exonic,BEND3,NA,nonsynonymous SNV,"BEND3:NM_001367314:exon4:c.G250A:p.A84T,BEND3:NM_001080450:exon5:c.G250A:p.A84T",D,N,N,.,N,T
chr6,107566817,107566817,C,T,R010_S,PDSS2,Missense_Mutation,NM_020381,exon4,c.G637A,p.E213K,SNP,SNVindel,exonic,PDSS2,NA,nonsynonymous SNV,PDSS2:NM_020381:exon4:c.G637A:p.E213K,D,D,D,T,D,T
chr6,108535718,108535718,C,T,R010_S,SNX3,Missense_Mutation,NM_152827,exon2,c.G271A,p.E91K,SNP,SNVindel,exonic,SNX3,NA,nonsynonymous SNV,"SNX3:NM_152827:exon2:c.G271A:p.E91K,SNX3:NM_001300929:exon3:c.G301A:p.E101K,SNX3:NM_003795:exon3:c.G367A:p.E123K",D,D,D,T,D,T
chr6,108582025,108582025,C,T,R010_S,SNX3,Missense_Mutation,NM_001300928,exon1,c.G101A,p.S34N,SNP,SNVindel,exonic,SNX3,NA,nonsynonymous SNV,"SNX3:NM_001300928:exon1:c.G101A:p.S34N,SNX3:NM_003795:exon1:c.G101A:p.S34N,SNX3:NM_152827:exon1:c.G101A:p.S34N",T,D,D,T,N,T
chr6,109769505,109769505,C,T,R010_S,MICAL1,Missense_Mutation,NM_001159291,exon12,c.G1498A,p.V500M,SNP,SNVindel,exonic,MICAL1,NA,nonsynonymous SNV,"MICAL1:NM_001159291:exon12:c.G1498A:p.V500M,MICAL1:NM_001286613:exon13:c.G1813A:p.V605M,MICAL1:NM_022765:exon13:c.G1756A:p.V586M",T,N,N,T,N,T
chr6,109770651,109770651,G,A,R010_S,MICAL1,Missense_Mutation,NM_001159291,exon10,c.C1210T,p.P404S,SNP,SNVindel,exonic,MICAL1,NA,nonsynonymous SNV,"MICAL1:NM_001159291:exon10:c.C1210T:p.P404S,MICAL1:NM_001286613:exon11:c.C1525T:p.P509S,MICAL1:NM_022765:exon11:c.C1468T:p.P490S",T,N,N,T,N,T
chr6,109796683,109796683,G,A,R010_S,ZBTB24,Missense_Mutation,NM_014797,exon5,c.C1207T,p.H403Y,SNP,SNVindel,exonic,ZBTB24,NA,nonsynonymous SNV,ZBTB24:NM_014797:exon5:c.C1207T:p.H403Y,D,D,D,T,N,T
chr6,110053890,110053890,G,A,R010_S,FIG4,Missense_Mutation,NM_014845,exon5,c.G497A,p.S166N,SNP,SNVindel,exonic,FIG4,NA,nonsynonymous SNV,FIG4:NM_014845:exon5:c.G497A:p.S166N,D,D,D,T,D,D
chr6,110714300,110714300,C,T,R010_S,DDO,Missense_Mutation,NM_001368171,exon4,c.G365A,p.G122E,SNP,SNVindel,exonic,DDO,NA,nonsynonymous SNV,"DDO:NM_001368171:exon4:c.G365A:p.G122E,DDO:NM_004032:exon4:c.G527A:p.G176E,DDO:NM_001368174:exon5:c.G350A:p.G117E,DDO:NM_001368175:exon5:c.G350A:p.G117E,DDO:NM_003649:exon5:c.G788A:p.G263E,DDO:NM_001368170:exon6:c.G542A:p.G181E",D,D,D,T,D,D
chr6,110797736,110797736,C,T,R010_S,SLC22A16,Silent,NM_033125,exon1,c.G42A,p.G14G,SNP,SNVindel,exonic,SLC22A16,NA,synonymous SNV,SLC22A16:NM_033125:exon1:c.G42A:p.G14G,NA,NA,NA,NA,NA,NA
chr6,111498756,111498756,G,A,R010_S,SLC16A10,Missense_Mutation,NM_018593,exon3,c.G830A,p.S277N,SNP,SNVindel,exonic,SLC16A10,NA,nonsynonymous SNV,SLC16A10:NM_018593:exon3:c.G830A:p.S277N,T,N,D,T,N,T
chr6,111540082,111540082,C,T,R010_S,SLC16A10,Silent,NM_018593,exon5,c.C1152T,p.A384A,SNP,SNVindel,exonic,SLC16A10,NA,synonymous SNV,SLC16A10:NM_018593:exon5:c.C1152T:p.A384A,NA,NA,NA,NA,NA,NA
chr6,111709265,111709265,C,T,R010_S,REV3L,Missense_Mutation,NM_002912,exon9,c.G886A,p.E296K,SNP,SNVindel,exonic,REV3L,NA,nonsynonymous SNV,"REV3L:NM_002912:exon9:c.G886A:p.E296K,REV3L:NM_001286432:exon10:c.G652A:p.E218K,REV3L:NM_001286431:exon11:c.G652A:p.E218K",D,D,D,T,N,T
chr6,112041030,112041030,G,A,R010_S,FYN,Silent,NM_001370529,exon2,c.C225T,p.T75T,SNP,SNVindel,exonic,FYN,NA,synonymous SNV,"FYN:NM_001370529:exon2:c.C225T:p.T75T,FYN:NM_153048:exon2:c.C225T:p.T75T,FYN:NM_002037:exon4:c.C225T:p.T75T,FYN:NM_153047:exon4:c.C225T:p.T75T",NA,NA,NA,NA,NA,NA
chr6,112393181,112393181,G,A,R010_S,TUBE1,Missense_Mutation,NM_016262,exon11,c.C1193T,p.A398V,SNP,SNVindel,exonic,TUBE1,NA,nonsynonymous SNV,TUBE1:NM_016262:exon11:c.C1193T:p.A398V,T,D,D,T,N,T
chr6,114181224,114181224,G,A,R010_S,MARCKS,Silent,NM_002356,exon2,c.G468A,p.K156K,SNP,SNVindel,exonic,MARCKS,NA,synonymous SNV,MARCKS:NM_002356:exon2:c.G468A:p.K156K,NA,NA,NA,NA,NA,NA
chr6,114267177,114267177,G,A,R010_S,HDAC2,Missense_Mutation,NM_001527,exon9,c.C977T,p.P326L,SNP,SNVindel,exonic,HDAC2,NA,nonsynonymous SNV,HDAC2:NM_001527:exon9:c.C977T:p.P326L,D,D,D,T,D,D
chr6,116953563,116953563,G,A,R010_S,RSPH4A,Missense_Mutation,NM_001010892,exon6,c.G2110A,p.E704K,SNP,SNVindel,exonic,RSPH4A,NA,nonsynonymous SNV,RSPH4A:NM_001010892:exon6:c.G2110A:p.E704K,D,N,D,T,D,T
chr6,117198471,117198471,C,T,R010_S,RFX6,Silent,NM_173560,exon1,c.C33T,p.F11F,SNP,SNVindel,exonic,RFX6,NA,synonymous SNV,RFX6:NM_173560:exon1:c.C33T:p.F11F,NA,NA,NA,NA,NA,NA
chr6,117589466,117589466,G,A,R010_S,VGLL2,Missense_Mutation,NM_153453,exon2,c.G203A,p.G68D,SNP,SNVindel,exonic,VGLL2,NA,nonsynonymous SNV,"VGLL2:NM_153453:exon2:c.G203A:p.G68D,VGLL2:NM_182645:exon2:c.G203A:p.G68D",T,N,D,T,N,T
chr6,117631293,117631293,C,T,R010_S,ROS1,Missense_Mutation,NM_002944,exon40,c.G6385A,p.A2129T,SNP,SNVindel,exonic,ROS1,NA,nonsynonymous SNV,ROS1:NM_002944:exon40:c.G6385A:p.A2129T,D,D,D,D,D,D
chr6,117846542,117846542,G,A,R010_S,DCBLD1,Missense_Mutation,NM_001366458,exon5,c.G530A,p.G177D,SNP,SNVindel,exonic,DCBLD1,NA,nonsynonymous SNV,"DCBLD1:NM_001366458:exon5:c.G530A:p.G177D,DCBLD1:NM_001366459:exon5:c.G530A:p.G177D,DCBLD1:NM_001366460:exon5:c.G530A:p.G177D,DCBLD1:NM_173674:exon5:c.G530A:p.G177D",D,D,D,D,D,D
chr6,123117979,123117979,C,T,R010_S,SMPDL3A,Missense_Mutation,NM_006714,exon3,c.C337T,p.P113S,SNP,SNVindel,exonic,SMPDL3A,NA,nonsynonymous SNV,SMPDL3A:NM_006714:exon3:c.C337T:p.P113S,D,D,D,D,D,T
chr6,123545265,123545265,C,T,R010_S,TRDN,Missense_Mutation,NM_006073,exon39,c.G1987A,p.D663N,SNP,SNVindel,exonic,TRDN,NA,nonsynonymous SNV,TRDN:NM_006073:exon39:c.G1987A:p.D663N,.,N,N,.,.,T
chr6,123892163,123892163,G,A,R010_S,TRDN,Missense_Mutation,NM_001251987,exon2,c.C137T,p.S46F,SNP,SNVindel,exonic,TRDN,NA,nonsynonymous SNV,"TRDN:NM_001251987:exon2:c.C137T:p.S46F,TRDN:NM_001256020:exon2:c.C137T:p.S46F,TRDN:NM_001256021:exon2:c.C137T:p.S46F,TRDN:NM_001256022:exon2:c.C137T:p.S46F,TRDN:NM_006073:exon2:c.C137T:p.S46F",D,D,D,T,N,D
chr6,125379242,125379242,C,T,R010_S,RNF217,Missense_Mutation,NM_001286398,exon3,c.C1271T,p.P424L,SNP,SNVindel,exonic,RNF217,NA,nonsynonymous SNV,"RNF217:NM_001286398:exon3:c.C1271T:p.P424L,RNF217:NM_152553:exon5:c.C395T:p.P132L",D,D,D,T,D,D
chr6,125569505,125569505,T,A,R010_S,TPD52L1,Missense_Mutation,NM_001003395,exon4,c.T275A,p.I92N,SNP,SNVindel,exonic,TPD52L1,NA,nonsynonymous SNV,"TPD52L1:NM_001003395:exon4:c.T275A:p.I92N,TPD52L1:NM_001003396:exon4:c.T362A:p.I121N,TPD52L1:NM_001003397:exon4:c.T362A:p.I121N,TPD52L1:NM_001292026:exon4:c.T275A:p.I92N,TPD52L1:NM_001300994:exon4:c.T362A:p.I121N,TPD52L1:NM_001318903:exon4:c.T362A:p.I121N,TPD52L1:NM_001318907:exon4:c.T275A:p.I92N,TPD52L1:NM_003287:exon4:c.T362A:p.I121N",D,D,D,T,D,T
chr6,125584047,125584047,C,T,R010_S,TPD52L1,Missense_Mutation,NM_001300994,exon6,c.C515T,p.A172V,SNP,SNVindel,exonic,TPD52L1,NA,nonsynonymous SNV,"TPD52L1:NM_001300994:exon6:c.C515T:p.A172V,TPD52L1:NM_001003395:exon7:c.C467T:p.A156V,TPD52L1:NM_003287:exon7:c.C554T:p.A185V,TPD52L1:NM_001318903:exon8:c.C569T:p.A190V",D,D,D,T,N,T
chr6,127796829,127796829,C,T,R010_S,SOGA3,Missense_Mutation,NM_001012279,exon6,c.G2342A,p.S781N,SNP,SNVindel,exonic,SOGA3,NA,nonsynonymous SNV,SOGA3:NM_001012279:exon6:c.G2342A:p.S781N,D,D,D,T,N,T
chr6,127837002,127837002,C,T,R010_S,SOGA3,Missense_Mutation,NM_001012279,exon2,c.G758A,p.G253E,SNP,SNVindel,exonic,SOGA3,NA,nonsynonymous SNV,SOGA3:NM_001012279:exon2:c.G758A:p.G253E,D,D,D,T,N,T
chr6,127901580,127901580,A,G,R010_S,C6orf58,Missense_Mutation,NM_001010905,exon3,c.A559G,p.N187D,SNP,SNVindel,exonic,C6orf58,NA,nonsynonymous SNV,C6orf58:NM_001010905:exon3:c.A559G:p.N187D,T,N,N,T,N,T
chr6,129470209,129470209,C,T,R010_S,LAMA2,Missense_Mutation,NM_000426,exon7,c.C995T,p.A332V,SNP,SNVindel,exonic,LAMA2,NA,nonsynonymous SNV,"LAMA2:NM_000426:exon7:c.C995T:p.A332V,LAMA2:NM_001079823:exon7:c.C995T:p.A332V",D,D,D,T,N,T
chr6,129826490,129826490,G,A,R010_S,LAMA2,Missense_Mutation,NM_001079823,exon60,c.G8681A,p.R2894K,SNP,SNVindel,exonic,LAMA2,NA,nonsynonymous SNV,"LAMA2:NM_001079823:exon60:c.G8681A:p.R2894K,LAMA2:NM_000426:exon61:c.G8693A:p.R2898K",T,D,D,T,N,T
chr6,131927623,131927623,G,A,R010_S,MED23,Missense_Mutation,NM_001270521,exon13,c.C1363T,p.H455Y,SNP,SNVindel,exonic,MED23,NA,nonsynonymous SNV,"MED23:NM_001270521:exon13:c.C1363T:p.H455Y,MED23:NM_001270522:exon13:c.C1363T:p.H455Y,MED23:NM_004830:exon13:c.C1363T:p.H455Y,MED23:NM_015979:exon14:c.C1381T:p.H461Y",T,D,D,T,N,T
chr6,132910682,132910682,G,A,R010_S,TAAR5,Silent,NM_003967,exon1,c.C144T,p.I48I,SNP,SNVindel,exonic,TAAR5,NA,synonymous SNV,TAAR5:NM_003967:exon1:c.C144T:p.I48I,NA,NA,NA,NA,NA,NA
chr6,138655118,138655118,G,A,R010_S,ARFGEF3,Missense_Mutation,NM_020340,exon33,c.G5135A,p.R1712K,SNP,SNVindel,exonic,ARFGEF3,NA,nonsynonymous SNV,ARFGEF3:NM_020340:exon33:c.G5135A:p.R1712K,T,N,D,T,N,T
chr6,139576742,139576742,C,T,R010_S,TXLNB,Missense_Mutation,NM_153235,exon7,c.G1036A,p.A346T,SNP,SNVindel,exonic,TXLNB,NA,nonsynonymous SNV,TXLNB:NM_153235:exon7:c.G1036A:p.A346T,T,N,D,T,N,T
chr6,144262982,144262982,C,T,R010_S,PLAGL1,Missense_Mutation,NM_001317157,exon3,c.G971A,p.G324D,SNP,SNVindel,exonic,PLAGL1,NA,nonsynonymous SNV,"PLAGL1:NM_001317157:exon3:c.G971A:p.G324D,PLAGL1:NM_001317158:exon3:c.G815A:p.G272D,PLAGL1:NM_001289038:exon4:c.G815A:p.G272D,PLAGL1:NM_001289047:exon4:c.G971A:p.G324D,PLAGL1:NM_001317156:exon4:c.G971A:p.G324D,PLAGL1:NM_001289037:exon5:c.G815A:p.G272D,PLAGL1:NM_001289039:exon5:c.G815A:p.G272D,PLAGL1:NM_001289042:exon5:c.G971A:p.G324D,PLAGL1:NM_001080955:exon6:c.G815A:p.G272D,PLAGL1:NM_001080956:exon6:c.G815A:p.G272D,PLAGL1:NM_001289040:exon6:c.G815A:p.G272D,PLAGL1:NM_001289041:exon6:c.G815A:p.G272D,PLAGL1:NM_001289044:exon6:c.G971A:p.G324D,PLAGL1:NM_001289049:exon6:c.G971A:p.G324D,PLAGL1:NM_001317160:exon6:c.G815A:p.G272D,PLAGL1:NM_001080952:exon7:c.G971A:p.G324D,PLAGL1:NM_001080953:exon7:c.G971A:p.G324D,PLAGL1:NM_001080954:exon7:c.G971A:p.G324D,PLAGL1:NM_001289043:exon7:c.G971A:p.G324D,PLAGL1:NM_001289045:exon7:c.G971A:p.G324D,PLAGL1:NM_001289048:exon7:c.G971A:p.G324D,PLAGL1:NM_001317161:exon7:c.G971A:p.G324D,PLAGL1:NM_006718:exon7:c.G971A:p.G324D,PLAGL1:NM_001080951:exon8:c.G971A:p.G324D,PLAGL1:NM_001317159:exon8:c.G971A:p.G324D,PLAGL1:NM_001317162:exon8:c.G971A:p.G324D,PLAGL1:NM_001289046:exon9:c.G971A:p.G324D",D,N,N,T,N,T
chr6,146127280,146127280,C,T,R010_S,FBXO30,Missense_Mutation,NM_001348092,exon2,c.G262A,p.V88M,SNP,SNVindel,exonic,FBXO30,NA,nonsynonymous SNV,"FBXO30:NM_001348092:exon2:c.G262A:p.V88M,FBXO30:NM_032145:exon2:c.G262A:p.V88M",D,D,D,T,D,T
chr6,146268649,146268649,C,T,R010_S,SHPRH,Missense_Mutation,NM_001042683,exon6,c.G1192A,p.D398N,SNP,SNVindel,exonic,SHPRH,NA,nonsynonymous SNV,"SHPRH:NM_001042683:exon6:c.G1192A:p.D398N,SHPRH:NM_001370327:exon6:c.G1192A:p.D398N,SHPRH:NM_173082:exon6:c.G1192A:p.D398N",T,D,D,D,N,D
chr6,146271604,146271604,C,T,R010_S,SHPRH,Missense_Mutation,NM_001042683,exon4,c.G778A,p.D260N,SNP,SNVindel,exonic,SHPRH,NA,nonsynonymous SNV,"SHPRH:NM_001042683:exon4:c.G778A:p.D260N,SHPRH:NM_001370327:exon4:c.G778A:p.D260N,SHPRH:NM_173082:exon4:c.G778A:p.D260N",D,D,D,D,N,D
chr6,147560309,147560309,G,A,R010_S,STXBP5,Missense_Mutation,NM_001127715,exon4,c.G334A,p.A112T,SNP,SNVindel,exonic,STXBP5,NA,nonsynonymous SNV,"STXBP5:NM_001127715:exon4:c.G334A:p.A112T,STXBP5:NM_139244:exon4:c.G334A:p.A112T",D,D,D,T,D,T
chr6,147581835,147581835,G,A,R010_S,STXBP5,Silent,NM_001127715,exon5,c.G516A,p.E172E,SNP,SNVindel,exonic,STXBP5,NA,synonymous SNV,"STXBP5:NM_001127715:exon5:c.G516A:p.E172E,STXBP5:NM_139244:exon5:c.G516A:p.E172E",NA,NA,NA,NA,NA,NA
chr6,148711328,148711328,C,T,R010_S,SASH1,Missense_Mutation,NM_001346505,exon2,c.C80T,p.T27I,SNP,SNVindel,exonic,SASH1,NA,nonsynonymous SNV,"SASH1:NM_001346505:exon2:c.C80T:p.T27I,SASH1:NM_015278:exon2:c.C215T:p.T72I",D,D,D,T,D,T
chr6,149285621,149285621,C,T,R010_S,UST,Silent,NM_005715,exon5,c.C603T,p.F201F,SNP,SNVindel,exonic,UST,NA,synonymous SNV,UST:NM_005715:exon5:c.C603T:p.F201F,NA,NA,NA,NA,NA,NA
chr6,149700546,149700546,G,A,R010_S,TAB2,Missense_Mutation,NM_001292034,exon3,c.G1495A,p.E499K,SNP,SNVindel,exonic,TAB2,NA,nonsynonymous SNV,"TAB2:NM_001292034:exon3:c.G1495A:p.E499K,TAB2:NM_001292035:exon3:c.G1399A:p.E467K,TAB2:NM_001369506:exon4:c.G1495A:p.E499K,TAB2:NM_015093:exon5:c.G1495A:p.E499K",T,D,D,T,N,T
chr6,150239371,150239371,G,A,R010_S,RAET1G,Missense_Mutation,NM_001001788,exon4,c.C781T,p.P261S,SNP,SNVindel,exonic,RAET1G,NA,nonsynonymous SNV,RAET1G:NM_001001788:exon4:c.C781T:p.P261S,T,.,N,T,N,T
chr6,150291167,150291167,C,T,R010_S,ULBP1,Missense_Mutation,NM_001317089,exon2,c.C101T,p.A34V,SNP,SNVindel,exonic,ULBP1,NA,nonsynonymous SNV,"ULBP1:NM_001317089:exon2:c.C101T:p.A34V,ULBP1:NM_025218:exon4:c.C641T:p.A214V",T,.,N,T,N,T
chr6,151209020,151209020,C,T,R010_S,MTHFD1L,Missense_Mutation,NM_001242767,exon7,c.C686T,p.A229V,SNP,SNVindel,exonic,MTHFD1L,NA,nonsynonymous SNV,"MTHFD1L:NM_001242767:exon7:c.C686T:p.A229V,MTHFD1L:NM_001242768:exon7:c.C488T:p.A163V,MTHFD1L:NM_001242769:exon7:c.C683T:p.A228V,MTHFD1L:NM_001350486:exon7:c.C485T:p.A162V,MTHFD1L:NM_001350487:exon7:c.C353T:p.A118V,MTHFD1L:NM_001350488:exon7:c.C686T:p.A229V,MTHFD1L:NM_001350491:exon7:c.C356T:p.A119V,MTHFD1L:NM_001350492:exon7:c.C356T:p.A119V,MTHFD1L:NM_001350493:exon7:c.C356T:p.A119V,MTHFD1L:NM_015440:exon7:c.C683T:p.A228V",D,N,D,T,N,T
chr6,151907203,151907203,C,T,R010_S,CCDC170,Silent,NM_025059,exon7,c.C1272T,p.N424N,SNP,SNVindel,exonic,CCDC170,NA,synonymous SNV,CCDC170:NM_025059:exon7:c.C1272T:p.N424N,NA,NA,NA,NA,NA,NA
chr6,152446428,152446428,G,A,R010_S,ESR1,Missense_Mutation,NM_001328100,exon7,c.G878A,p.R293K,SNP,SNVindel,exonic,ESR1,NA,nonsynonymous SNV,ESR1:NM_001328100:exon7:c.G878A:p.R293K,.,.,N,.,.,T
chr6,152737920,152737920,G,A,R010_S,SYNE1,Silent,NM_033071,exon41,c.C5673T,p.L1891L,SNP,SNVindel,exonic,SYNE1,NA,synonymous SNV,"SYNE1:NM_033071:exon41:c.C5673T:p.L1891L,SYNE1:NM_182961:exon41:c.C5652T:p.L1884L",NA,NA,NA,NA,NA,NA
chr6,158349663,158349663,C,T,R010_S,SNX9,Missense_Mutation,NM_016224,exon12,c.C1217T,p.T406I,SNP,SNVindel,exonic,SNX9,NA,nonsynonymous SNV,SNX9:NM_016224:exon12:c.C1217T:p.T406I,D,D,D,T,D,T
chr6,159653057,159653057,C,T,R010_S,FNDC1,Missense_Mutation,NM_032532,exon11,c.C1513T,p.L505F,SNP,SNVindel,exonic,FNDC1,NA,nonsynonymous SNV,FNDC1:NM_032532:exon11:c.C1513T:p.L505F,T,N,N,T,N,T
chr6,160225655,160225655,C,T,R010_S,PNLDC1,Silent,NM_001271862,exon6,c.C447T,p.N149N,SNP,SNVindel,exonic,PNLDC1,NA,synonymous SNV,"PNLDC1:NM_001271862:exon6:c.C447T:p.N149N,PNLDC1:NM_173516:exon6:c.C414T:p.N138N",NA,NA,NA,NA,NA,NA
chr6,160663409,160663409,G,A,R010_S,SLC22A2,Silent,NM_003058,exon8,c.C1305T,p.I435I,SNP,SNVindel,exonic,SLC22A2,NA,synonymous SNV,SLC22A2:NM_003058:exon8:c.C1305T:p.I435I,NA,NA,NA,NA,NA,NA
chr6,165711521,165711521,C,T,R010_S,C6orf118,Missense_Mutation,NM_144980,exon5,c.G1006A,p.E336K,SNP,SNVindel,exonic,C6orf118,NA,nonsynonymous SNV,C6orf118:NM_144980:exon5:c.G1006A:p.E336K,T,N,N,T,N,T
chr6,166581022,166581022,G,A,R010_S,TBXT,Silent,NM_001366285,exon1,c.C58T,p.L20L,SNP,SNVindel,exonic,TBXT,NA,synonymous SNV,"TBXT:NM_001366285:exon1:c.C58T:p.L20L,TBXT:NM_001270484:exon2:c.C58T:p.L20L,TBXT:NM_001366286:exon2:c.C58T:p.L20L,TBXT:NM_003181:exon2:c.C58T:p.L20L",NA,NA,NA,NA,NA,NA
chr6,167184384,167184384,A,C,R010_S,RPS6KA2,Silent,NM_001318936,exon3,c.T141G,p.A47A,SNP,SNVindel,exonic,RPS6KA2,NA,synonymous SNV,RPS6KA2:NM_001318936:exon3:c.T141G:p.A47A,NA,NA,NA,NA,NA,NA
chr6,167344561,167344561,G,A,R010_S,RNASET2,Missense_Mutation,NM_003730,exon8,c.C538T,p.P180S,SNP,SNVindel,exonic,RNASET2,NA,nonsynonymous SNV,RNASET2:NM_003730:exon8:c.C538T:p.P180S,D,D,D,T,D,D
chr6,169982994,169982994,G,A,R010_S,WDR27,Missense_Mutation,NM_001350623,exon19,c.C1888T,p.H630Y,SNP,SNVindel,exonic,WDR27,NA,nonsynonymous SNV,"WDR27:NM_001350623:exon19:c.C1888T:p.H630Y,WDR27:NM_001202550:exon21:c.C2080T:p.H694Y,WDR27:NM_182552:exon24:c.C2461T:p.H821Y",T,N,N,T,D,T
chr7,193768,193768,C,T,R010_S,FAM20C,Missense_Mutation,NM_020223,exon1,c.C569T,p.T190I,SNP,SNVindel,exonic,FAM20C,NA,nonsynonymous SNV,FAM20C:NM_020223:exon1:c.C569T:p.T190I,T,N,N,T,N,T
chr7,540853,540853,C,T,R010_S,PDGFA,Silent,NM_002607,exon5,c.G480A,p.K160K,SNP,SNVindel,exonic,PDGFA,NA,synonymous SNV,"PDGFA:NM_002607:exon5:c.G480A:p.K160K,PDGFA:NM_033023:exon5:c.G480A:p.K160K",NA,NA,NA,NA,NA,NA
chr7,751023,751023,G,A,R010_S,PRKAR1B,Silent,NM_001164758,exon2,c.C120T,p.I40I,SNP,SNVindel,exonic,PRKAR1B,NA,synonymous SNV,"PRKAR1B:NM_001164758:exon2:c.C120T:p.I40I,PRKAR1B:NM_001164759:exon2:c.C120T:p.I40I,PRKAR1B:NM_001164760:exon2:c.C120T:p.I40I,PRKAR1B:NM_001164761:exon2:c.C120T:p.I40I,PRKAR1B:NM_001164762:exon2:c.C120T:p.I40I,PRKAR1B:NM_002735:exon2:c.C120T:p.I40I",NA,NA,NA,NA,NA,NA
chr7,1484980,1484980,G,A,R010_S,MICALL2,Silent,NM_182924,exon6,c.C726T,p.L242L,SNP,SNVindel,exonic,MICALL2,NA,synonymous SNV,MICALL2:NM_182924:exon6:c.C726T:p.L242L,NA,NA,NA,NA,NA,NA
chr7,1516057,1516057,C,T,R010_S,INTS1,Missense_Mutation,NM_001080453,exon38,c.G5186A,p.G1729D,SNP,SNVindel,exonic,INTS1,NA,nonsynonymous SNV,INTS1:NM_001080453:exon38:c.G5186A:p.G1729D,T,N,N,T,N,T
chr7,1525077,1525077,C,T,R010_S,INTS1,Missense_Mutation,NM_001080453,exon23,c.G3005A,p.S1002N,SNP,SNVindel,exonic,INTS1,NA,nonsynonymous SNV,INTS1:NM_001080453:exon23:c.G3005A:p.S1002N,T,D,N,T,N,T
chr7,1539628,1539628,G,A,R010_S,INTS1,Silent,NM_001080453,exon5,c.C576T,p.A192A,SNP,SNVindel,exonic,INTS1,NA,synonymous SNV,INTS1:NM_001080453:exon5:c.C576T:p.A192A,NA,NA,NA,NA,NA,NA
chr7,1784333,1784333,G,A,R010_S,ELFN1,Missense_Mutation,NM_001128636,exon3,c.G101A,p.G34D,SNP,SNVindel,exonic,ELFN1,NA,nonsynonymous SNV,ELFN1:NM_001128636:exon3:c.G101A:p.G34D,D,.,D,T,D,.
chr7,1785192,1785192,G,A,R010_S,ELFN1,Silent,NM_001128636,exon3,c.G960A,p.K320K,SNP,SNVindel,exonic,ELFN1,NA,synonymous SNV,ELFN1:NM_001128636:exon3:c.G960A:p.K320K,NA,NA,NA,NA,NA,NA
chr7,1786588,1786588,C,T,R010_S,ELFN1,Missense_Mutation,NM_001128636,exon3,c.C2356T,p.R786W,SNP,SNVindel,exonic,ELFN1,NA,nonsynonymous SNV,ELFN1:NM_001128636:exon3:c.C2356T:p.R786W,D,.,D,T,D,.
chr7,2303961,2303961,C,T,R010_S,SNX8,Missense_Mutation,NM_013321,exon6,c.G754A,p.D252N,SNP,SNVindel,exonic,SNX8,NA,nonsynonymous SNV,SNX8:NM_013321:exon6:c.G754A:p.D252N,D,N,D,.,D,T
chr7,2317746,2317746,C,T,R010_S,SNX8,Missense_Mutation,NM_013321,exon2,c.G289A,p.V97I,SNP,SNVindel,exonic,SNX8,NA,nonsynonymous SNV,SNX8:NM_013321:exon2:c.G289A:p.V97I,T,D,D,T,N,T
chr7,2692627,2692627,G,A,R010_S,TTYH3,Missense_Mutation,NM_025250,exon9,c.G1003A,p.E335K,SNP,SNVindel,exonic,TTYH3,NA,nonsynonymous SNV,TTYH3:NM_025250:exon9:c.G1003A:p.E335K,T,D,D,T,N,T
chr7,2695791,2695791,C,T,R010_S,TTYH3,Silent,NM_025250,exon10,c.C1086T,p.A362A,SNP,SNVindel,exonic,TTYH3,NA,synonymous SNV,TTYH3:NM_025250:exon10:c.C1086T:p.A362A,NA,NA,NA,NA,NA,NA
chr7,4026882,4026882,G,A,R010_S,SDK1,Missense_Mutation,NM_152744,exon14,c.G2059A,p.V687M,SNP,SNVindel,exonic,SDK1,NA,nonsynonymous SNV,SDK1:NM_152744:exon14:c.G2059A:p.V687M,T,N,N,T,N,T
chr7,4780632,4780632,C,T,R010_S,FOXK1,Missense_Mutation,NM_001037165,exon2,c.C724T,p.P242S,SNP,SNVindel,exonic,FOXK1,NA,nonsynonymous SNV,FOXK1:NM_001037165:exon2:c.C724T:p.P242S,D,D,D,D,D,D
chr7,4796780,4796780,C,T,R010_S,FOXK1,Silent,NM_001037165,exon5,c.C1206T,p.V402V,SNP,SNVindel,exonic,FOXK1,NA,synonymous SNV,FOXK1:NM_001037165:exon5:c.C1206T:p.V402V,NA,NA,NA,NA,NA,NA
chr7,4876098,4876098,G,A,R010_S,RADIL,Missense_Mutation,NM_018059,exon3,c.C674T,p.A225V,SNP,SNVindel,exonic,RADIL,NA,nonsynonymous SNV,RADIL:NM_018059:exon3:c.C674T:p.A225V,T,N,D,T,N,T
chr7,5385306,5385306,G,A,R010_S,TNRC18,Missense_Mutation,NM_001080495,exon18,c.C5606T,p.A1869V,SNP,SNVindel,exonic,TNRC18,NA,nonsynonymous SNV,TNRC18:NM_001080495:exon18:c.C5606T:p.A1869V,D,N,D,T,N,T
chr7,5410964,5410964,C,T,R010_S,TNRC18,Silent,NM_001080495,exon11,c.G3261A,p.L1087L,SNP,SNVindel,exonic,TNRC18,NA,synonymous SNV,TNRC18:NM_001080495:exon11:c.G3261A:p.L1087L,NA,NA,NA,NA,NA,NA
chr7,6026969,6026969,C,T,R010_S,PMS2,Missense_Mutation,NM_001322008,exon9,c.G1109A,p.S370N,SNP,SNVindel,exonic,PMS2,NA,nonsynonymous SNV,"PMS2:NM_001322008:exon9:c.G1109A:p.S370N,PMS2:NM_001322010:exon9:c.G866A:p.S289N,PMS2:NM_001322004:exon10:c.G1022A:p.S341N,PMS2:NM_001322006:exon10:c.G1271A:p.S424N,PMS2:NM_001322007:exon10:c.G1109A:p.S370N,PMS2:NM_001322013:exon10:c.G854A:p.S285N,PMS2:NM_000535:exon11:c.G1427A:p.S476N,PMS2:NM_001322003:exon11:c.G1022A:p.S341N,PMS2:NM_001322005:exon11:c.G1022A:p.S341N,PMS2:NM_001322009:exon11:c.G1022A:p.S341N,PMS2:NM_001322011:exon11:c.G494A:p.S165N,PMS2:NM_001322012:exon11:c.G494A:p.S165N,PMS2:NM_001322014:exon11:c.G1427A:p.S476N,PMS2:NM_001322015:exon11:c.G1118A:p.S373N",T,N,N,T,N,T
chr7,6072489,6072489,C,T,R010_S,ANKRD61,Missense_Mutation,NM_001271700,exon2,c.C236T,p.P79L,SNP,SNVindel,exonic,ANKRD61,NA,nonsynonymous SNV,ANKRD61:NM_001271700:exon2:c.C236T:p.P79L,D,D,D,T,D,D
chr7,6072518,6072518,G,A,R010_S,ANKRD61,Missense_Mutation,NM_001271700,exon2,c.G265A,p.A89T,SNP,SNVindel,exonic,ANKRD61,NA,nonsynonymous SNV,ANKRD61:NM_001271700:exon2:c.G265A:p.A89T,T,N,D,T,N,T
chr7,6661283,6661283,G,A,R010_S,ZNF853,Missense_Mutation,NM_001353546,exon3,c.G616A,p.E206K,SNP,SNVindel,exonic,ZNF853,NA,nonsynonymous SNV,"ZNF853:NM_001353546:exon3:c.G616A:p.E206K,ZNF853:NM_017560:exon3:c.G661A:p.E221K",D,.,N,T,N,.
chr7,7563860,7563860,C,T,R010_S,COL28A1,Silent,NM_001037763,exon4,c.G702A,p.K234K,SNP,SNVindel,exonic,COL28A1,NA,synonymous SNV,COL28A1:NM_001037763:exon4:c.G702A:p.K234K,NA,NA,NA,NA,NA,NA
chr7,7571277,7571277,C,T,R010_S,COL28A1,Missense_Mutation,NM_001037763,exon3,c.G383A,p.G128E,SNP,SNVindel,exonic,COL28A1,NA,nonsynonymous SNV,COL28A1:NM_001037763:exon3:c.G383A:p.G128E,D,U,D,T,D,T
chr7,7612971,7612971,G,A,R010_S,MIOS,Missense_Mutation,NM_001370077,exon2,c.G865A,p.D289N,SNP,SNVindel,exonic,MIOS,NA,nonsynonymous SNV,"MIOS:NM_001370077:exon2:c.G865A:p.D289N,MIOS:NM_001370078:exon2:c.G865A:p.D289N,MIOS:NM_001370080:exon2:c.G865A:p.D289N,MIOS:NM_001370076:exon3:c.G865A:p.D289N,MIOS:NM_019005:exon4:c.G865A:p.D289N",D,D,D,T,D,T
chr7,16644375,16644375,C,T,R010_S,ANKMY2,Missense_Mutation,NM_020319,exon8,c.G982A,p.A328T,SNP,SNVindel,exonic,ANKMY2,NA,nonsynonymous SNV,ANKMY2:NM_020319:exon8:c.G982A:p.A328T,D,D,D,D,D,D
chr7,16725596,16725596,C,T,R010_S,BZW2,Silent,NM_001159767,exon6,c.C472T,p.L158L,SNP,SNVindel,exonic,BZW2,NA,synonymous SNV,"BZW2:NM_001159767:exon6:c.C472T:p.L158L,BZW2:NM_001362717:exon6:c.C472T:p.L158L,BZW2:NM_014038:exon6:c.C472T:p.L158L",NA,NA,NA,NA,NA,NA
chr7,17338936,17338936,G,A,R010_S,AHR,Silent,NM_001621,exon1,c.G48A,p.R16R,SNP,SNVindel,exonic,AHR,NA,synonymous SNV,AHR:NM_001621:exon1:c.G48A:p.R16R,NA,NA,NA,NA,NA,NA
chr7,21583156,21583156,G,A,R010_S,DNAH11,Missense_Mutation,NM_001277115,exon1,c.G293A,p.S98N,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon1:c.G293A:p.S98N,T,N,N,T,N,T
chr7,21611464,21611464,G,A,R010_S,DNAH11,Missense_Mutation,NM_001277115,exon8,c.G1466A,p.R489K,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon8:c.G1466A:p.R489K,T,N,N,T,N,T
chr7,23830494,23830494,C,T,R010_S,STK31,Missense_Mutation,NM_001260504,exon22,c.C2620T,p.P874S,SNP,SNVindel,exonic,STK31,NA,nonsynonymous SNV,"STK31:NM_001260504:exon22:c.C2620T:p.P874S,STK31:NM_001260505:exon22:c.C2689T:p.P897S,STK31:NM_031414:exon22:c.C2689T:p.P897S,STK31:NM_032944:exon22:c.C2620T:p.P874S",D,D,D,D,D,D
chr7,26236054,26236054,G,A,R010_S,HNRNPA2B1,Missense_Mutation,NM_002137,exon6,c.C625T,p.P209S,SNP,SNVindel,exonic,HNRNPA2B1,NA,nonsynonymous SNV,"HNRNPA2B1:NM_002137:exon6:c.C625T:p.P209S,HNRNPA2B1:NM_031243:exon7:c.C661T:p.P221S",T,D,N,D,N,T
chr7,26779579,26779579,G,A,R010_S,SKAP2,Silent,NM_003930,exon5,c.C312T,p.A104A,SNP,SNVindel,exonic,SKAP2,NA,synonymous SNV,SKAP2:NM_003930:exon5:c.C312T:p.A104A,NA,NA,NA,NA,NA,NA
chr7,27203341,27203341,C,T,R010_S,HOXA9,Missense_Mutation,NM_152739,exon2,c.G700A,p.D234N,SNP,SNVindel,exonic,HOXA9,NA,nonsynonymous SNV,HOXA9:NM_152739:exon2:c.G700A:p.D234N,D,D,D,D,D,D
chr7,27669042,27669042,G,A,R010_S,HIBADH,Silent,NM_152740,exon4,c.C432T,p.A144A,SNP,SNVindel,exonic,HIBADH,NA,synonymous SNV,HIBADH:NM_152740:exon4:c.C432T:p.A144A,NA,NA,NA,NA,NA,NA
chr7,27797660,27797660,G,A,R010_S,TAX1BP1,Missense_Mutation,NM_001079864,exon3,c.G173A,p.S58N,SNP,SNVindel,exonic,TAX1BP1,NA,nonsynonymous SNV,"TAX1BP1:NM_001079864:exon3:c.G173A:p.S58N,TAX1BP1:NM_001206901:exon3:c.G173A:p.S58N,TAX1BP1:NM_001362794:exon3:c.G173A:p.S58N,TAX1BP1:NM_001362795:exon3:c.G173A:p.S58N,TAX1BP1:NM_006024:exon3:c.G173A:p.S58N",T,D,D,T,N,T
chr7,27833975,27833975,G,A,R010_S,TAX1BP1,Missense_Mutation,NM_001206902,exon10,c.G973A,p.G325R,SNP,SNVindel,exonic,TAX1BP1,NA,nonsynonymous SNV,"TAX1BP1:NM_001206902:exon10:c.G973A:p.G325R,TAX1BP1:NM_001079864:exon11:c.G1444A:p.G482R,TAX1BP1:NM_001206901:exon11:c.G1444A:p.G482R,TAX1BP1:NM_001362794:exon11:c.G1444A:p.G482R,TAX1BP1:NM_001362795:exon11:c.G1444A:p.G482R,TAX1BP1:NM_006024:exon11:c.G1444A:p.G482R",T,D,D,T,N,T
chr7,28996057,28996057,G,A,R010_S,TRIL,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TRIL,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr7,30054437,30054437,C,T,R010_S,FKBP14,Missense_Mutation,NM_017946,exon4,c.G550A,p.V184M,SNP,SNVindel,exonic,FKBP14,NA,nonsynonymous SNV,FKBP14:NM_017946:exon4:c.G550A:p.V184M,D,D,D,T,N,D
chr7,30961832,30961832,G,A,R010_S,AQP1,Missense_Mutation,NM_001329872,exon2,c.G536A,p.G179E,SNP,SNVindel,exonic,AQP1,NA,nonsynonymous SNV,"AQP1:NM_001329872:exon2:c.G536A:p.G179E,AQP1:NM_198098:exon2:c.G536A:p.G179E",D,N,D,D,D,D
chr7,31683165,31683165,G,A,R010_S,ITPRID1,Silent,NM_194300,exon10,c.G2181A,p.G727G,SNP,SNVindel,exonic,ITPRID1,NA,synonymous SNV,"ITPRID1:NM_194300:exon10:c.G2181A:p.G727G,ITPRID1:NM_001257968:exon11:c.G2259A:p.G753G,ITPRID1:NM_001257967:exon12:c.G2211A:p.G737G",NA,NA,NA,NA,NA,NA
chr7,32599030,32599030,G,A,R010_S,AVL9,Missense_Mutation,NM_015060,exon10,c.G1169A,p.G390D,SNP,SNVindel,exonic,AVL9,NA,nonsynonymous SNV,AVL9:NM_015060:exon10:c.G1169A:p.G390D,T,D,D,T,N,T
chr7,33102238,33102238,G,A,R010_S,NT5C3A,Missense_Mutation,NM_001002010,exon1,c.C80T,p.A27V,SNP,SNVindel,exonic,NT5C3A,NA,nonsynonymous SNV,NT5C3A:NM_001002010:exon1:c.C80T:p.A27V,T,D,D,T,N,T
chr7,35244162,35244162,G,A,R010_S,TBX20,Missense_Mutation,NM_001077653,exon7,c.C923T,p.S308F,SNP,SNVindel,exonic,TBX20,NA,nonsynonymous SNV,TBX20:NM_001077653:exon7:c.C923T:p.S308F,D,D,D,D,N,D
chr7,36375811,36375811,G,A,R010_S,KIAA0895,Silent,NM_001300956,exon2,c.C84T,p.I28I,SNP,SNVindel,exonic,KIAA0895,NA,synonymous SNV,"KIAA0895:NM_001300956:exon2:c.C84T:p.I28I,KIAA0895:NM_001199706:exon3:c.C810T:p.I270I,KIAA0895:NM_001199708:exon3:c.C510T:p.I170I",NA,NA,NA,NA,NA,NA
chr7,36429653,36429653,G,A,R010_S,ANLN,Missense_Mutation,NM_001100425,exon1,c.C31T,p.L11F,SNP,SNVindel,exonic,ANLN;KIAA0895,NA,nonsynonymous SNV,KIAA0895:NM_001100425:exon1:c.C31T:p.L11F,D,.,D,.,N,T
chr7,36763683,36763683,G,A,R010_S,AOAH,Missense_Mutation,NM_001177507,exon1,c.C71T,p.S24F,SNP,SNVindel,exonic,AOAH,NA,nonsynonymous SNV,"AOAH:NM_001177507:exon1:c.C71T:p.S24F,AOAH:NM_001637:exon1:c.C71T:p.S24F",T,N,N,T,D,T
chr7,37896883,37896883,C,T,R010_S,NME8,Missense_Mutation,NM_016616,exon6,c.C206T,p.A69V,SNP,SNVindel,exonic,NME8,NA,nonsynonymous SNV,NME8:NM_016616:exon6:c.C206T:p.A69V,T,D,D,T,D,T
chr7,39472720,39472720,C,T,R010_S,POU6F2,Silent,NM_001370959,exon7,c.C1158T,p.S386S,SNP,SNVindel,exonic,POU6F2,NA,synonymous SNV,"POU6F2:NM_001370959:exon7:c.C1158T:p.S386S,POU6F2:NM_001166018:exon8:c.C1071T:p.S357S,POU6F2:NM_007252:exon8:c.C1071T:p.S357S",NA,NA,NA,NA,NA,NA
chr7,39606027,39606027,G,A,R010_S,YAE1,Missense_Mutation,NM_001282446,exon1,c.G10A,p.V4I,SNP,SNVindel,exonic,YAE1,NA,nonsynonymous SNV,"YAE1:NM_001282446:exon1:c.G10A:p.V4I,YAE1:NM_020192:exon1:c.G10A:p.V4I",T,N,N,T,N,T
chr7,39991198,39991198,G,A,R010_S,CDK13,Missense_Mutation,NM_003718,exon1,c.G958A,p.G320R,SNP,SNVindel,exonic,CDK13,NA,nonsynonymous SNV,"CDK13:NM_003718:exon1:c.G958A:p.G320R,CDK13:NM_031267:exon1:c.G958A:p.G320R",T,.,N,T,N,T
chr7,42011983,42011983,G,A,R010_S,GLI3,Missense_Mutation,NM_000168,exon13,c.C2056T,p.R686W,SNP,SNVindel,exonic,GLI3,NA,nonsynonymous SNV,GLI3:NM_000168:exon13:c.C2056T:p.R686W,D,D,D,T,N,T
chr7,42187992,42187992,C,T,R010_S,GLI3,Missense_Mutation,NM_000168,exon3,c.G200A,p.G67E,SNP,SNVindel,exonic,GLI3,NA,nonsynonymous SNV,GLI3:NM_000168:exon3:c.G200A:p.G67E,D,D,D,T,N,T
chr7,43548701,43548701,G,A,R010_S,HECW1,Missense_Mutation,NM_001287059,exon22,c.G3898A,p.V1300I,SNP,SNVindel,exonic,HECW1,NA,nonsynonymous SNV,"HECW1:NM_001287059:exon22:c.G3898A:p.V1300I,HECW1:NM_015052:exon24:c.G4000A:p.V1334I",T,D,D,T,N,T
chr7,43917309,43917309,G,A,R010_S,URGCP,Missense_Mutation,NM_017920,exon5,c.C1726T,p.P576S,SNP,SNVindel,exonic,URGCP,NA,nonsynonymous SNV,"URGCP:NM_017920:exon5:c.C1726T:p.P576S,URGCP:NM_001077663:exon6:c.C1753T:p.P585S,URGCP:NM_001077664:exon6:c.C1624T:p.P542S,URGCP:NM_001290075:exon6:c.C1624T:p.P542S,URGCP:NM_001290076:exon7:c.C1624T:p.P542S",T,N,N,T,N,T
chr7,43917887,43917887,C,T,R010_S,URGCP,Missense_Mutation,NM_017920,exon5,c.G1148A,p.G383E,SNP,SNVindel,exonic,URGCP,NA,nonsynonymous SNV,"URGCP:NM_017920:exon5:c.G1148A:p.G383E,URGCP:NM_001077663:exon6:c.G1175A:p.G392E,URGCP:NM_001077664:exon6:c.G1046A:p.G349E,URGCP:NM_001290075:exon6:c.G1046A:p.G349E,URGCP:NM_001290076:exon7:c.G1046A:p.G349E",T,N,D,T,N,T
chr7,44092497,44092497,G,A,R010_S,DBNL,Missense_Mutation,NM_001014436,exon4,c.G284A,p.G95E,SNP,SNVindel,exonic,DBNL,NA,nonsynonymous SNV,"DBNL:NM_001014436:exon4:c.G284A:p.G95E,DBNL:NM_001122956:exon4:c.G284A:p.G95E,DBNL:NM_001362723:exon4:c.G284A:p.G95E,DBNL:NM_014063:exon4:c.G284A:p.G95E",D,D,D,T,D,T
chr7,44190588,44190588,G,A,R010_S,GCK,Silent,NM_000162,exon4,c.C450T,p.F150F,SNP,SNVindel,exonic,GCK,NA,synonymous SNV,"GCK:NM_000162:exon4:c.C450T:p.F150F,GCK:NM_001354800:exon4:c.C450T:p.F150F,GCK:NM_033507:exon4:c.C453T:p.F151F,GCK:NM_033508:exon5:c.C447T:p.F149F",NA,NA,NA,NA,NA,NA
chr7,45960413,45960413,G,A,R010_S,IGFBP3,Silent,NM_000598,exon1,c.C327T,p.D109D,SNP,SNVindel,exonic,IGFBP3,NA,synonymous SNV,"IGFBP3:NM_000598:exon1:c.C327T:p.D109D,IGFBP3:NM_001013398:exon1:c.C327T:p.D109D",NA,NA,NA,NA,NA,NA
chr7,48089507,48089507,C,T,R010_S,C7orf57,Silent,NM_001267865,exon5,c.C172T,p.L58L,SNP,SNVindel,exonic,C7orf57,NA,synonymous SNV,"C7orf57:NM_001267865:exon5:c.C172T:p.L58L,C7orf57:NM_001267866:exon5:c.C172T:p.L58L,C7orf57:NM_001100159:exon6:c.C538T:p.L180L",NA,NA,NA,NA,NA,NA
chr7,48315275,48315275,G,A,R010_S,ABCA13,Silent,NM_152701,exon17,c.G6012A,p.R2004R,SNP,SNVindel,exonic,ABCA13,NA,synonymous SNV,ABCA13:NM_152701:exon17:c.G6012A:p.R2004R,NA,NA,NA,NA,NA,NA
chr7,50673026,50673026,C,T,R010_S,GRB10,Silent,NM_001001549,exon11,c.G1212A,p.E404E,SNP,SNVindel,exonic,GRB10,NA,synonymous SNV,"GRB10:NM_001001549:exon11:c.G1212A:p.E404E,GRB10:NM_001001550:exon12:c.G1176A:p.E392E,GRB10:NM_001350815:exon12:c.G1464A:p.E488E,GRB10:NM_001371008:exon12:c.G1176A:p.E392E,GRB10:NM_001371009:exon12:c.G1497A:p.E499E,GRB10:NM_001001555:exon13:c.G1176A:p.E392E,GRB10:NM_001350816:exon14:c.G1176A:p.E392E,GRB10:NM_001350814:exon15:c.G1350A:p.E450E",NA,NA,NA,NA,NA,NA
chr7,55238092,55238092,G,A,R010_S,EGFR,Missense_Mutation,NM_201284,exon16,c.G1973A,p.S658N,SNP,SNVindel,exonic,EGFR,NA,nonsynonymous SNV,EGFR:NM_201284:exon16:c.G1973A:p.S658N,D,.,N,T,N,T
chr7,56087368,56087368,G,A,R010_S,PSPH,Missense_Mutation,NM_001370509,exon4,c.C200T,p.A67V,SNP,SNVindel,exonic,PSPH,NA,nonsynonymous SNV,"PSPH:NM_001370509:exon4:c.C200T:p.A67V,PSPH:NM_001370510:exon4:c.C200T:p.A67V,PSPH:NM_001370503:exon5:c.C200T:p.A67V,PSPH:NM_001370504:exon5:c.C200T:p.A67V,PSPH:NM_001370512:exon5:c.C200T:p.A67V,PSPH:NM_001370514:exon5:c.C200T:p.A67V,PSPH:NM_004577:exon5:c.C200T:p.A67V,PSPH:NM_001370505:exon6:c.C200T:p.A67V,PSPH:NM_001370506:exon6:c.C200T:p.A67V,PSPH:NM_001370507:exon6:c.C200T:p.A67V,PSPH:NM_001370511:exon6:c.C200T:p.A67V,PSPH:NM_001370513:exon6:c.C200T:p.A67V,PSPH:NM_001370515:exon6:c.C200T:p.A67V,PSPH:NM_001370516:exon6:c.C200T:p.A67V,PSPH:NM_001370519:exon6:c.C200T:p.A67V,PSPH:NM_001370522:exon6:c.C200T:p.A67V,PSPH:NM_001370508:exon7:c.C200T:p.A67V,PSPH:NM_001370517:exon7:c.C200T:p.A67V,PSPH:NM_001370520:exon7:c.C200T:p.A67V,PSPH:NM_001370521:exon7:c.C200T:p.A67V,PSPH:NM_001370518:exon8:c.C200T:p.A67V",T,D,D,D,N,D
chr7,63529972,63529972,G,A,R010_S,ZNF727,Missense_Mutation,NM_001159522,exon3,c.G211A,p.V71I,SNP,SNVindel,exonic,ZNF727,NA,nonsynonymous SNV,ZNF727:NM_001159522:exon3:c.G211A:p.V71I,.,.,N,.,.,T
chr7,64152295,64152295,G,A,R010_S,ZNF107,Silent,NM_001282359,exon3,c.G183A,p.E61E,SNP,SNVindel,exonic,ZNF107,NA,synonymous SNV,ZNF107:NM_001282359:exon3:c.G183A:p.E61E,NA,NA,NA,NA,NA,NA
chr7,64168238,64168238,C,T,R010_S,ZNF107,Missense_Mutation,NM_001282360,exon3,c.C1667T,p.T556I,SNP,SNVindel,exonic,ZNF107,NA,nonsynonymous SNV,"ZNF107:NM_001282360:exon3:c.C1667T:p.T556I,ZNF107:NM_001282359:exon4:c.C1763T:p.T588I,ZNF107:NM_001013746:exon5:c.C1556T:p.T519I,ZNF107:NM_016220:exon7:c.C1556T:p.T519I",D,.,N,T,D,T
chr7,64439251,64439251,G,A,R010_S,ERV3-1-ZNF117,Missense_Mutation,NM_001348050,exon4,c.C698T,p.A233V,SNP,SNVindel,exonic,ERV3-1-ZNF117;ZNF117,NA,nonsynonymous SNV,"ERV3-1-ZNF117:NM_001348050:exon4:c.C698T:p.A233V,ZNF117:NM_015852:exon4:c.C698T:p.A233V",T,.,N,T,N,T
chr7,66463879,66463879,G,A,R010_S,TYW1,Missense_Mutation,NM_018264,exon3,c.G211A,p.E71K,SNP,SNVindel,exonic,TYW1,NA,nonsynonymous SNV,TYW1:NM_018264:exon3:c.G211A:p.E71K,T,N,N,T,N,T
chr7,69064722,69064722,G,A,R010_S,AUTS2,Missense_Mutation,NM_001127231,exon1,c.G83A,p.G28D,SNP,SNVindel,exonic,AUTS2,NA,nonsynonymous SNV,"AUTS2:NM_001127231:exon1:c.G83A:p.G28D,AUTS2:NM_001127232:exon1:c.G83A:p.G28D,AUTS2:NM_015570:exon1:c.G83A:p.G28D",D,N,N,T,N,T
chr7,70255767,70255767,C,T,R010_S,AUTS2,Missense_Mutation,NM_001127231,exon18,c.C3493T,p.L1165F,SNP,SNVindel,exonic,AUTS2,NA,nonsynonymous SNV,"AUTS2:NM_001127231:exon18:c.C3493T:p.L1165F,AUTS2:NM_015570:exon19:c.C3565T:p.L1189F",D,D,D,T,D,T
chr7,70255871,70255871,C,T,R010_S,AUTS2,Silent,NM_001127231,exon18,c.C3597T,p.L1199L,SNP,SNVindel,exonic,AUTS2,NA,synonymous SNV,"AUTS2:NM_001127231:exon18:c.C3597T:p.L1199L,AUTS2:NM_015570:exon19:c.C3669T:p.L1223L",NA,NA,NA,NA,NA,NA
chr7,72754804,72754804,G,A,R010_S,FKBP6,Silent,NM_001281304,exon5,c.G663A,p.K221K,SNP,SNVindel,exonic,FKBP6,NA,synonymous SNV,"FKBP6:NM_001281304:exon5:c.G663A:p.K221K,FKBP6:NM_001362789:exon5:c.G618A:p.K206K,FKBP6:NM_001135211:exon6:c.G738A:p.K246K,FKBP6:NM_003602:exon6:c.G753A:p.K251K",NA,NA,NA,NA,NA,NA
chr7,72849508,72849508,G,A,R010_S,FZD9,Missense_Mutation,NM_003508,exon1,c.G1171A,p.A391T,SNP,SNVindel,exonic,FZD9,NA,nonsynonymous SNV,FZD9:NM_003508:exon1:c.G1171A:p.A391T,D,U,D,D,N,T
chr7,72892365,72892365,G,A,R010_S,BAZ1B,Silent,NM_001370402,exon7,c.C1426T,p.L476L,SNP,SNVindel,exonic,BAZ1B,NA,synonymous SNV,"BAZ1B:NM_001370402:exon7:c.C1426T:p.L476L,BAZ1B:NM_032408:exon7:c.C1426T:p.L476L",NA,NA,NA,NA,NA,NA
chr7,73010009,73010009,G,A,R010_S,MLXIPL,Silent,NM_032951,exon15,c.C2268T,p.D756D,SNP,SNVindel,exonic,MLXIPL,NA,synonymous SNV,"MLXIPL:NM_032951:exon15:c.C2268T:p.D756D,MLXIPL:NM_032952:exon15:c.C2211T:p.D737D,MLXIPL:NM_032953:exon15:c.C2262T:p.D754D,MLXIPL:NM_032954:exon15:c.C2205T:p.D735D",NA,NA,NA,NA,NA,NA
chr7,73098003,73098003,G,A,R010_S,BUD23,Silent,NM_001202560,exon1,c.G48A,p.L16L,SNP,SNVindel,exonic,BUD23,NA,synonymous SNV,"BUD23:NM_001202560:exon1:c.G48A:p.L16L,BUD23:NM_017528:exon1:c.G48A:p.L16L",.,.,D,.,.,T
chr7,73245835,73245835,G,A,R010_S,CLDN4,Missense_Mutation,NM_001305,exon1,c.G304A,p.G102S,SNP,SNVindel,exonic,CLDN4,NA,nonsynonymous SNV,CLDN4:NM_001305:exon1:c.G304A:p.G102S,D,D,D,D,N,T
chr7,73255459,73255459,G,A,R010_S,METTL27,Missense_Mutation,NM_152559,exon3,c.C193T,p.P65S,SNP,SNVindel,exonic,METTL27,NA,nonsynonymous SNV,METTL27:NM_152559:exon3:c.C193T:p.P65S,T,N,N,T,N,T
chr7,74015449,74015449,C,T,R010_S,GTF2IRD1,Missense_Mutation,NM_001199207,exon26,c.C2804T,p.S935F,SNP,SNVindel,exonic,GTF2IRD1,NA,nonsynonymous SNV,"GTF2IRD1:NM_001199207:exon26:c.C2804T:p.S935F,GTF2IRD1:NM_005685:exon26:c.C2708T:p.S903F,GTF2IRD1:NM_016328:exon26:c.C2753T:p.S918F",D,N,D,T,N,T
chr7,75168654,75168654,C,T,R010_S,HIP1,Missense_Mutation,NM_001243198,exon28,c.G2897A,p.G966D,SNP,SNVindel,exonic,HIP1,NA,nonsynonymous SNV,"HIP1:NM_001243198:exon28:c.G2897A:p.G966D,HIP1:NM_005338:exon30:c.G3050A:p.G1017D",T,N,D,T,D,T
chr7,75189043,75189043,C,T,R010_S,HIP1,Silent,NM_001243198,exon14,c.G1368A,p.E456E,SNP,SNVindel,exonic,HIP1,NA,synonymous SNV,"HIP1:NM_001243198:exon14:c.G1368A:p.E456E,HIP1:NM_005338:exon14:c.G1368A:p.E456E",NA,NA,NA,NA,NA,NA
chr7,75203088,75203088,C,T,R010_S,HIP1,Silent,NM_001243198,exon8,c.G723A,p.K241K,SNP,SNVindel,exonic,HIP1,NA,synonymous SNV,"HIP1:NM_001243198:exon8:c.G723A:p.K241K,HIP1:NM_005338:exon8:c.G723A:p.K241K",NA,NA,NA,NA,NA,NA
chr7,75517550,75517550,C,T,R010_S,RHBDD2,Silent,NM_001346188,exon3,c.C570T,p.T190T,SNP,SNVindel,exonic,RHBDD2,NA,synonymous SNV,"RHBDD2:NM_001346188:exon3:c.C570T:p.T190T,RHBDD2:NM_001346189:exon3:c.C534T:p.T178T,RHBDD2:NM_001040456:exon4:c.C978T:p.T326T,RHBDD2:NM_001346187:exon4:c.C555T:p.T185T,RHBDD2:NM_001040457:exon5:c.C555T:p.T185T,RHBDD2:NM_001346186:exon6:c.C555T:p.T185T",NA,NA,NA,NA,NA,NA
chr7,75583358,75583358,C,T,R010_S,POR,Silent,NM_000941,exon2,c.C48T,p.S16S,SNP,SNVindel,exonic,POR,NA,synonymous SNV,"POR:NM_000941:exon2:c.C48T:p.S16S,POR:NM_001367562:exon3:c.C48T:p.S16S",NA,NA,NA,NA,NA,NA
chr7,75912392,75912392,G,A,R010_S,SRRM3,Missense_Mutation,NM_001291831,exon14,c.G1706A,p.S569N,SNP,SNVindel,exonic,SRRM3,NA,nonsynonymous SNV,SRRM3:NM_001291831:exon14:c.G1706A:p.S569N,.,D,D,.,.,T
chr7,77256704,77256704,C,T,R010_S,PTPN12,Missense_Mutation,NM_001131009,exon12,c.C1318T,p.P440S,SNP,SNVindel,exonic,PTPN12,NA,nonsynonymous SNV,"PTPN12:NM_001131009:exon12:c.C1318T:p.P440S,PTPN12:NM_001131008:exon13:c.C1351T:p.P451S,PTPN12:NM_002835:exon13:c.C1708T:p.P570S",T,D,N,T,N,T
chr7,77326156,77326156,G,A,R010_S,RSBN1L,Missense_Mutation,NM_198467,exon1,c.G370A,p.V124M,SNP,SNVindel,exonic,RSBN1L,NA,nonsynonymous SNV,RSBN1L:NM_198467:exon1:c.G370A:p.V124M,D,N,N,T,N,T
chr7,77649189,77649189,C,T,R010_S,MAGI2,Missense_Mutation,NM_001301128,exon21,c.G3769A,p.A1257T,SNP,SNVindel,exonic,MAGI2,NA,nonsynonymous SNV,"MAGI2:NM_001301128:exon21:c.G3769A:p.A1257T,MAGI2:NM_012301:exon22:c.G3811A:p.A1271T",D,.,D,T,N,T
chr7,79764576,79764576,G,A,R010_S,GNAI1,Missense_Mutation,NM_002069,exon1,c.G100A,p.V34I,SNP,SNVindel,exonic,GNAI1,NA,nonsynonymous SNV,GNAI1:NM_002069:exon1:c.G100A:p.V34I,T,D,D,D,N,T
chr7,80091556,80091556,C,T,R010_S,GNAT3,Missense_Mutation,NM_001102386,exon7,c.G793A,p.V265I,SNP,SNVindel,exonic,GNAT3,NA,nonsynonymous SNV,GNAT3:NM_001102386:exon7:c.G793A:p.V265I,T,U,D,D,N,T
chr7,80378309,80378309,C,T,R010_S,SEMA3C,Missense_Mutation,NM_001350120,exon17,c.G1801A,p.V601I,SNP,SNVindel,exonic,SEMA3C,NA,nonsynonymous SNV,"SEMA3C:NM_001350120:exon17:c.G1801A:p.V601I,SEMA3C:NM_006379:exon17:c.G1747A:p.V583I,SEMA3C:NM_001350121:exon18:c.G1573A:p.V525I",T,D,D,T,N,T
chr7,82072698,82072698,C,T,R010_S,CACNA2D1,Silent,NM_000722,exon1,c.G78A,p.P26P,SNP,SNVindel,exonic,CACNA2D1,NA,synonymous SNV,"CACNA2D1:NM_000722:exon1:c.G78A:p.P26P,CACNA2D1:NM_001302890:exon1:c.G78A:p.P26P,CACNA2D1:NM_001366867:exon1:c.G78A:p.P26P",NA,NA,NA,NA,NA,NA
chr7,82582249,82582249,C,T,R010_S,PCLO,Missense_Mutation,NM_014510,exon5,c.G8020A,p.V2674I,SNP,SNVindel,exonic,PCLO,NA,nonsynonymous SNV,"PCLO:NM_014510:exon5:c.G8020A:p.V2674I,PCLO:NM_033026:exon5:c.G8020A:p.V2674I",T,.,N,T,N,T
chr7,82585955,82585955,G,A,R010_S,PCLO,Silent,NM_014510,exon5,c.C4314T,p.P1438P,SNP,SNVindel,exonic,PCLO,NA,synonymous SNV,"PCLO:NM_014510:exon5:c.C4314T:p.P1438P,PCLO:NM_033026:exon5:c.C4314T:p.P1438P",NA,NA,NA,NA,NA,NA
chr7,82764454,82764454,C,T,R010_S,PCLO,Silent,NM_014510,exon3,c.G2412A,p.Q804Q,SNP,SNVindel,exonic,PCLO,NA,synonymous SNV,"PCLO:NM_014510:exon3:c.G2412A:p.Q804Q,PCLO:NM_033026:exon3:c.G2412A:p.Q804Q",NA,NA,NA,NA,NA,NA
chr7,86468670,86468670,C,T,R010_S,GRM3,Missense_Mutation,NM_000840,exon4,c.C1840T,p.L614F,SNP,SNVindel,exonic,GRM3,NA,nonsynonymous SNV,GRM3:NM_000840:exon4:c.C1840T:p.L614F,D,D,D,D,D,D
chr7,87032496,87032496,G,A,R010_S,ABCB4,Silent,NM_018850,exon26,c.C3447T,p.L1149L,SNP,SNVindel,exonic,ABCB4,NA,synonymous SNV,"ABCB4:NM_018850:exon26:c.C3447T:p.L1149L,ABCB4:NM_000443:exon27:c.C3588T:p.L1196L,ABCB4:NM_018849:exon27:c.C3609T:p.L1203L",NA,NA,NA,NA,NA,NA
chr7,87069648,87069648,C,T,R010_S,ABCB4,Missense_Mutation,NM_000443,exon13,c.G1427A,p.S476N,SNP,SNVindel,exonic,ABCB4,NA,nonsynonymous SNV,"ABCB4:NM_000443:exon13:c.G1427A:p.S476N,ABCB4:NM_018849:exon13:c.G1427A:p.S476N,ABCB4:NM_018850:exon13:c.G1427A:p.S476N",T,N,D,D,N,D
chr7,87174172,87174172,G,A,R010_S,ABCB1,Silent,NM_001348946,exon16,c.C2031T,p.A677A,SNP,SNVindel,exonic,ABCB1,NA,synonymous SNV,"ABCB1:NM_001348946:exon16:c.C2031T:p.A677A,ABCB1:NM_000927:exon17:c.C2031T:p.A677A,ABCB1:NM_001348944:exon18:c.C2031T:p.A677A,ABCB1:NM_001348945:exon20:c.C2241T:p.A747A",NA,NA,NA,NA,NA,NA
chr7,87811281,87811281,G,A,R010_S,ADAM22,Missense_Mutation,NM_001324417,exon28,c.G2407A,p.G803R,SNP,SNVindel,exonic,ADAM22,NA,nonsynonymous SNV,"ADAM22:NM_001324417:exon28:c.G2407A:p.G803R,ADAM22:NM_001324421:exon28:c.G2410A:p.G804R,ADAM22:NM_016351:exon28:c.G2410A:p.G804R,ADAM22:NM_021721:exon28:c.G2410A:p.G804R,ADAM22:NM_021722:exon28:c.G2410A:p.G804R,ADAM22:NM_001324418:exon29:c.G2605A:p.G869R,ADAM22:NM_001324419:exon29:c.G2602A:p.G868R,ADAM22:NM_001324420:exon29:c.G2605A:p.G869R,ADAM22:NM_004194:exon29:c.G2518A:p.G840R,ADAM22:NM_021723:exon29:c.G2518A:p.G840R",D,D,D,T,N,T
chr7,90895633,90895633,G,A,R010_S,FZD1,Missense_Mutation,NM_003505,exon1,c.G1438A,p.G480R,SNP,SNVindel,exonic,FZD1,NA,nonsynonymous SNV,FZD1:NM_003505:exon1:c.G1438A:p.G480R,D,D,D,D,D,D
chr7,91651612,91651612,G,A,R010_S,AKAP9,Missense_Mutation,NM_005751,exon13,c.G3898A,p.E1300K,SNP,SNVindel,exonic,AKAP9,NA,nonsynonymous SNV,"AKAP9:NM_005751:exon13:c.G3898A:p.E1300K,AKAP9:NM_147185:exon13:c.G3898A:p.E1300K",T,N,N,T,N,T
chr7,94045757,94045757,C,T,R010_S,COL1A2,Missense_Mutation,NM_000089,exon31,c.C1805T,p.P602L,SNP,SNVindel,exonic,COL1A2,NA,nonsynonymous SNV,COL1A2:NM_000089:exon31:c.C1805T:p.P602L,T,D,D,D,D,D
chr7,94055137,94055137,C,T,R010_S,COL1A2,Missense_Mutation,NM_000089,exon44,c.C2911T,p.P971S,SNP,SNVindel,exonic,COL1A2,NA,nonsynonymous SNV,COL1A2:NM_000089:exon44:c.C2911T:p.P971S,D,D,D,D,D,D
chr7,94898656,94898656,C,T,R010_S,PPP1R9A,Silent,NM_001166161,exon12,c.C2841T,p.D947D,SNP,SNVindel,exonic,PPP1R9A,NA,synonymous SNV,"PPP1R9A:NM_001166161:exon12:c.C2841T:p.D947D,PPP1R9A:NM_001166162:exon12:c.C2895T:p.D965D,PPP1R9A:NM_001166160:exon14:c.C2961T:p.D987D",NA,NA,NA,NA,NA,NA
chr7,95157330,95157330,C,T,R010_S,ASB4,Silent,NM_016116,exon3,c.C693T,p.H231H,SNP,SNVindel,exonic,ASB4,NA,synonymous SNV,"ASB4:NM_016116:exon3:c.C693T:p.H231H,ASB4:NM_145872:exon3:c.C693T:p.H231H",NA,NA,NA,NA,NA,NA
chr7,95709800,95709800,G,A,R010_S,DYNC1I1,Silent,NM_001135557,exon15,c.G1716A,p.E572E,SNP,SNVindel,exonic,DYNC1I1,NA,synonymous SNV,"DYNC1I1:NM_001135557:exon15:c.G1716A:p.E572E,DYNC1I1:NM_001278421:exon15:c.G1767A:p.E589E,DYNC1I1:NM_001278422:exon15:c.G1716A:p.E572E,DYNC1I1:NM_001135556:exon16:c.G1776A:p.E592E,DYNC1I1:NM_004411:exon16:c.G1827A:p.E609E",NA,NA,NA,NA,NA,NA
chr7,97873953,97873953,C,T,R010_S,TECPR1,Nonsense_Mutation,NM_015395,exon5,c.G461A,p.W154X,SNP,SNVindel,exonic,TECPR1,NA,stopgain,TECPR1:NM_015395:exon5:c.G461A:p.W154X,.,D,A,.,.,.
chr7,98460947,98460947,C,T,R010_S,TMEM130,Silent,NM_001134450,exon2,c.G162A,p.V54V,SNP,SNVindel,exonic,TMEM130,NA,synonymous SNV,"TMEM130:NM_001134450:exon2:c.G162A:p.V54V,TMEM130:NM_152913:exon2:c.G162A:p.V54V",NA,NA,NA,NA,NA,NA
chr7,98508744,98508744,C,T,R010_S,TRRAP,Silent,NM_001244580,exon17,c.C1857T,p.N619N,SNP,SNVindel,exonic,TRRAP,NA,synonymous SNV,"TRRAP:NM_001244580:exon17:c.C1857T:p.N619N,TRRAP:NM_003496:exon17:c.C1857T:p.N619N",NA,NA,NA,NA,NA,NA
chr7,98519440,98519440,G,A,R010_S,TRRAP,Missense_Mutation,NM_001244580,exon21,c.G2687A,p.G896D,SNP,SNVindel,exonic,TRRAP,NA,nonsynonymous SNV,"TRRAP:NM_001244580:exon21:c.G2687A:p.G896D,TRRAP:NM_003496:exon21:c.G2687A:p.G896D",D,D,D,T,D,D
chr7,98547127,98547127,G,A,R010_S,TRRAP,Missense_Mutation,NM_003496,exon34,c.G4801A,p.G1601S,SNP,SNVindel,exonic,TRRAP,NA,nonsynonymous SNV,"TRRAP:NM_003496:exon34:c.G4801A:p.G1601S,TRRAP:NM_001244580:exon35:c.G4855A:p.G1619S",T,N,D,T,N,T
chr7,98645313,98645313,G,A,R010_S,SMURF1,Silent,NM_001199847,exon10,c.C1146T,p.I382I,SNP,SNVindel,exonic,SMURF1,NA,synonymous SNV,"SMURF1:NM_001199847:exon10:c.C1146T:p.I382I,SMURF1:NM_181349:exon10:c.C1146T:p.I382I,SMURF1:NM_020429:exon11:c.C1224T:p.I408I",NA,NA,NA,NA,NA,NA
chr7,98649954,98649954,C,T,R010_S,SMURF1,Missense_Mutation,NM_001199847,exon7,c.G595A,p.E199K,SNP,SNVindel,exonic,SMURF1,NA,nonsynonymous SNV,"SMURF1:NM_001199847:exon7:c.G595A:p.E199K,SMURF1:NM_020429:exon7:c.G595A:p.E199K,SMURF1:NM_181349:exon7:c.G595A:p.E199K",T,D,D,T,N,T
chr7,98983365,98983365,C,T,R010_S,ARPC1B,Missense_Mutation,NM_005720,exon2,c.C28T,p.P10S,SNP,SNVindel,exonic,ARPC1B,NA,nonsynonymous SNV,ARPC1B:NM_005720:exon2:c.C28T:p.P10S,T,N,D,T,D,T
chr7,98985763,98985763,G,A,R010_S,ARPC1B,Missense_Mutation,NM_005720,exon4,c.G271A,p.V91I,SNP,SNVindel,exonic,ARPC1B,NA,nonsynonymous SNV,ARPC1B:NM_005720:exon4:c.G271A:p.V91I,D,D,D,T,N,T
chr7,99129319,99129319,C,T,R010_S,ZKSCAN5,Missense_Mutation,NM_001318083,exon5,c.C1748T,p.S583F,SNP,SNVindel,exonic,ZKSCAN5,NA,nonsynonymous SNV,"ZKSCAN5:NM_001318083:exon5:c.C1748T:p.S583F,ZKSCAN5:NM_001318084:exon5:c.C1175T:p.S392F,ZKSCAN5:NM_001318082:exon7:c.C1967T:p.S656F,ZKSCAN5:NM_014569:exon7:c.C1967T:p.S656F,ZKSCAN5:NM_145102:exon7:c.C1967T:p.S656F",D,N,D,T,D,T
chr7,99129404,99129404,G,A,R010_S,ZKSCAN5,Missense_Mutation,NM_001318083,exon5,c.G1833A,p.M611I,SNP,SNVindel,exonic,ZKSCAN5,NA,nonsynonymous SNV,"ZKSCAN5:NM_001318083:exon5:c.G1833A:p.M611I,ZKSCAN5:NM_001318084:exon5:c.G1260A:p.M420I,ZKSCAN5:NM_001318082:exon7:c.G2052A:p.M684I,ZKSCAN5:NM_014569:exon7:c.G2052A:p.M684I,ZKSCAN5:NM_145102:exon7:c.G2052A:p.M684I",D,N,N,T,N,T
chr7,99490233,99490233,C,T,R010_S,TRIM4,Silent,NM_033091,exon6,c.G978A,p.R326R,SNP,SNVindel,exonic,TRIM4,NA,synonymous SNV,"TRIM4:NM_033091:exon6:c.G978A:p.R326R,TRIM4:NM_033017:exon7:c.G1056A:p.R352R",NA,NA,NA,NA,NA,NA
chr7,99669763,99669763,C,T,R010_S,ZNF3,Missense_Mutation,NM_001318136,exon3,c.G365A,p.R122K,SNP,SNVindel,exonic,ZNF3,NA,nonsynonymous SNV,"ZNF3:NM_001318136:exon3:c.G365A:p.R122K,ZNF3:NM_001278291:exon4:c.G236A:p.R79K,ZNF3:NM_001371215:exon4:c.G236A:p.R79K,ZNF3:NM_001371217:exon4:c.G365A:p.R122K,ZNF3:NM_001278290:exon5:c.G344A:p.R115K,ZNF3:NM_001278292:exon5:c.G236A:p.R79K,ZNF3:NM_001362775:exon5:c.G365A:p.R122K,ZNF3:NM_001362776:exon5:c.G359A:p.R120K,ZNF3:NM_001371212:exon5:c.G344A:p.R115K,ZNF3:NM_001371216:exon5:c.G236A:p.R79K,ZNF3:NM_001278284:exon6:c.G344A:p.R115K,ZNF3:NM_001278287:exon6:c.G344A:p.R115K,ZNF3:NM_001318135:exon6:c.G344A:p.R115K,ZNF3:NM_001362777:exon6:c.G236A:p.R79K,ZNF3:NM_001371211:exon6:c.G344A:p.R115K,ZNF3:NM_001371213:exon6:c.G344A:p.R115K,ZNF3:NM_001371214:exon6:c.G344A:p.R115K,ZNF3:NM_001371218:exon6:c.G107A:p.R36K,ZNF3:NM_032924:exon6:c.G344A:p.R115K",T,D,D,T,N,T
chr7,99693047,99693047,G,A,R010_S,MCM7,Missense_Mutation,NM_001278595,exon11,c.C1114T,p.P372S,SNP,SNVindel,exonic,MCM7,NA,nonsynonymous SNV,"MCM7:NM_001278595:exon11:c.C1114T:p.P372S,MCM7:NM_182776:exon11:c.C1114T:p.P372S,MCM7:NM_005916:exon12:c.C1642T:p.P548S",T,D,D,T,D,T
chr7,99707869,99707869,G,A,R010_S,TAF6,Missense_Mutation,NM_001190415,exon11,c.C1223T,p.T408M,SNP,SNVindel,exonic,TAF6,NA,nonsynonymous SNV,"TAF6:NM_001190415:exon11:c.C1223T:p.T408M,TAF6:NM_001365000:exon11:c.C1082T:p.T361M,TAF6:NM_001365001:exon11:c.C1082T:p.T361M,TAF6:NM_001365002:exon11:c.C1082T:p.T361M,TAF6:NM_005641:exon11:c.C1112T:p.T371M,TAF6:NM_139315:exon11:c.C1112T:p.T371M,TAF6:NM_001364998:exon12:c.C1112T:p.T371M,TAF6:NM_001364999:exon12:c.C1112T:p.T371M,TAF6:NM_001365003:exon12:c.C1082T:p.T361M,TAF6:NM_001365004:exon12:c.C1250T:p.T417M",D,D,D,T,N,T
chr7,99772313,99772313,G,A,R010_S,GPC2,Missense_Mutation,NM_152742,exon4,c.C724T,p.L242F,SNP,SNVindel,exonic,GPC2,NA,nonsynonymous SNV,GPC2:NM_152742:exon4:c.C724T:p.L242F,D,N,D,T,N,T
chr7,99817556,99817556,C,T,R010_S,PVRIG,Missense_Mutation,NM_024070,exon2,c.C23T,p.P8L,SNP,SNVindel,exonic,PVRIG,NA,nonsynonymous SNV,PVRIG:NM_024070:exon2:c.C23T:p.P8L,T,.,N,T,N,T
chr7,99817857,99817857,C,T,R010_S,PVRIG,Missense_Mutation,NM_024070,exon3,c.C239T,p.P80L,SNP,SNVindel,exonic,PVRIG,NA,nonsynonymous SNV,PVRIG:NM_024070:exon3:c.C239T:p.P80L,D,.,N,T,D,T
chr7,99998924,99998924,C,T,R010_S,ZCWPW1,Missense_Mutation,NM_017984,exon18,c.G1660A,p.A554T,SNP,SNVindel,exonic,ZCWPW1,NA,nonsynonymous SNV,ZCWPW1:NM_017984:exon18:c.G1660A:p.A554T,T,.,N,T,N,T
chr7,100085898,100085898,C,T,R010_S,NYAP1,Missense_Mutation,NM_173564,exon4,c.C554T,p.S185F,SNP,SNVindel,exonic,NYAP1,NA,nonsynonymous SNV,NYAP1:NM_173564:exon4:c.C554T:p.S185F,T,N,D,T,N,T
chr7,100170336,100170336,C,T,R010_S,SAP25,Missense_Mutation,NM_001348677,exon4,c.G256A,p.D86N,SNP,SNVindel,exonic,SAP25,NA,nonsynonymous SNV,"SAP25:NM_001348677:exon4:c.G256A:p.D86N,SAP25:NM_001168682:exon5:c.G529A:p.D177N,SAP25:NM_001348680:exon5:c.G550A:p.D184N",D,N,D,.,D,T
chr7,100231136,100231136,C,T,R010_S,TFR2,Missense_Mutation,NM_001206855,exon1,c.G4A,p.A2T,SNP,SNVindel,exonic,TFR2,NA,nonsynonymous SNV,"TFR2:NM_001206855:exon1:c.G4A:p.A2T,TFR2:NM_003227:exon4:c.G517A:p.A173T",T,D,D,T,N,T
chr7,100238335,100238335,C,T,R010_S,TFR2,Silent,NM_003227,exon3,c.G447A,p.G149G,SNP,SNVindel,exonic,TFR2,NA,synonymous SNV,TFR2:NM_003227:exon3:c.G447A:p.G149G,NA,NA,NA,NA,NA,NA
chr7,100252652,100252652,G,A,R010_S,ACTL6B,Missense_Mutation,NM_016188,exon4,c.C359T,p.S120F,SNP,SNVindel,exonic,ACTL6B,NA,nonsynonymous SNV,ACTL6B:NM_016188:exon4:c.C359T:p.S120F,D,D,D,D,D,D
chr7,100344211,100344211,G,A,R010_S,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,.,N,N,T,N,T
chr7,100348382,100348382,G,A,R010_S,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,.,N,N,T,D,T
chr7,100646887,100646887,C,T,R010_S,MUC12,Missense_Mutation,NM_001164462,exon2,c.C13043T,p.A4348V,SNP,SNVindel,exonic,MUC12,NA,nonsynonymous SNV,MUC12:NM_001164462:exon2:c.C13043T:p.A4348V,D,.,N,T,N,T
chr7,100685914,100685914,C,T,R010_S,MUC17,Silent,NM_001040105,exon3,c.C11217T,p.D3739D,SNP,SNVindel,exonic,MUC17,NA,synonymous SNV,MUC17:NM_001040105:exon3:c.C11217T:p.D3739D,NA,NA,NA,NA,NA,NA
chr7,100686856,100686856,G,A,R010_S,MUC17,Silent,NM_001040105,exon3,c.G12159A,p.R4053R,SNP,SNVindel,exonic,MUC17,NA,synonymous SNV,MUC17:NM_001040105:exon3:c.G12159A:p.R4053R,NA,NA,NA,NA,NA,NA
chr7,100730666,100730666,C,T,R010_S,TRIM56,Silent,NM_030961,exon3,c.C73T,p.L25L,SNP,SNVindel,exonic,TRIM56,NA,synonymous SNV,TRIM56:NM_030961:exon3:c.C73T:p.L25L,NA,NA,NA,NA,NA,NA
chr7,100958455,100958455,G,A,R010_S,IFT22,Missense_Mutation,NM_001287526,exon3,c.C287T,p.S96F,SNP,SNVindel,exonic,IFT22,NA,nonsynonymous SNV,"IFT22:NM_001287526:exon3:c.C287T:p.S96F,IFT22:NM_001130820:exon4:c.C428T:p.S143F,IFT22:NM_001130822:exon4:c.C287T:p.S96F,IFT22:NM_001130821:exon5:c.C287T:p.S96F,IFT22:NM_022777:exon5:c.C518T:p.S173F,IFT22:NM_001287525:exon6:c.C287T:p.S96F",D,D,D,T,D,T
chr7,101740780,101740780,A,G,R010_S,CUX1,Silent,NM_001202544,exon4,c.A390G,p.Q130Q,SNP,SNVindel,exonic,CUX1,NA,synonymous SNV,"CUX1:NM_001202544:exon4:c.A390G:p.Q130Q,CUX1:NM_001202546:exon4:c.A327G:p.Q109Q,CUX1:NM_001202543:exon5:c.A438G:p.Q146Q,CUX1:NM_001913:exon5:c.A438G:p.Q146Q,CUX1:NM_181500:exon5:c.A438G:p.Q146Q,CUX1:NM_181552:exon5:c.A405G:p.Q135Q",NA,NA,NA,NA,NA,NA
chr7,102108560,102108560,C,T,R010_S,LRWD1,Missense_Mutation,NM_001317721,exon6,c.C274T,p.P92S,SNP,SNVindel,exonic,LRWD1,NA,nonsynonymous SNV,"LRWD1:NM_001317721:exon6:c.C274T:p.P92S,LRWD1:NM_152892:exon6:c.C730T:p.P244S",T,N,D,T,N,T
chr7,102113244,102113244,C,T,R010_S,LRWD1,Missense_Mutation,NM_001317721,exon14,c.C1340T,p.P447L,SNP,SNVindel,exonic,LRWD1,NA,nonsynonymous SNV,"LRWD1:NM_001317721:exon14:c.C1340T:p.P447L,LRWD1:NM_152892:exon14:c.C1796T:p.P599L",D,D,D,T,D,T
chr7,102769073,102769073,C,T,R010_S,NAPEPLD,Missense_Mutation,NM_001122838,exon2,c.G151A,p.E51K,SNP,SNVindel,exonic,NAPEPLD,NA,nonsynonymous SNV,"NAPEPLD:NM_001122838:exon2:c.G151A:p.E51K,NAPEPLD:NM_198990:exon2:c.G151A:p.E51K",D,D,D,D,N,D
chr7,102982267,102982267,C,T,R010_S,DNAJC2,Missense_Mutation,NM_001129887,exon2,c.G199A,p.E67K,SNP,SNVindel,exonic,DNAJC2,NA,nonsynonymous SNV,"DNAJC2:NM_001129887:exon2:c.G199A:p.E67K,DNAJC2:NM_014377:exon2:c.G199A:p.E67K",T,D,D,T,N,T
chr7,103629616,103629616,C,T,R010_S,RELN,Missense_Mutation,NM_005045,exon1,c.G188A,p.G63D,SNP,SNVindel,exonic,RELN,NA,nonsynonymous SNV,"RELN:NM_005045:exon1:c.G188A:p.G63D,RELN:NM_173054:exon1:c.G188A:p.G63D",D,D,D,T,N,T
chr7,105254691,105254691,C,T,R010_S,ATXN7L1,Missense_Mutation,NM_138495,exon8,c.G1718A,p.S573N,SNP,SNVindel,exonic,ATXN7L1,NA,nonsynonymous SNV,"ATXN7L1:NM_138495:exon8:c.G1718A:p.S573N,ATXN7L1:NM_001318229:exon10:c.G1442A:p.S481N,ATXN7L1:NM_020725:exon10:c.G2090A:p.S697N",T,N,N,T,N,T
chr7,105645093,105645093,G,A,R010_S,CDHR3,Missense_Mutation,NM_001301161,exon7,c.G748A,p.V250I,SNP,SNVindel,exonic,CDHR3,NA,nonsynonymous SNV,"CDHR3:NM_001301161:exon7:c.G748A:p.V250I,CDHR3:NM_152750:exon8:c.G1012A:p.V338I",T,N,D,T,N,T
chr7,106797649,106797649,G,A,R010_S,PRKAR2B,Missense_Mutation,NM_002736,exon10,c.G1003A,p.E335K,SNP,SNVindel,exonic,PRKAR2B,NA,nonsynonymous SNV,PRKAR2B:NM_002736:exon10:c.G1003A:p.E335K,T,D,D,T,N,T
chr7,106820413,106820413,C,T,R010_S,HBP1,Silent,NM_001244262,exon2,c.C105T,p.A35A,SNP,SNVindel,exonic,HBP1,NA,synonymous SNV,"HBP1:NM_001244262:exon2:c.C105T:p.A35A,HBP1:NM_012257:exon2:c.C75T:p.A25A",NA,NA,NA,NA,NA,NA
chr7,107114822,107114822,C,T,R010_S,GPR22,Missense_Mutation,NM_005295,exon3,c.C317T,p.S106L,SNP,SNVindel,exonic,GPR22,NA,nonsynonymous SNV,GPR22:NM_005295:exon3:c.C317T:p.S106L,T,D,D,T,N,T
chr7,107557259,107557259,G,A,R010_S,DLD,Missense_Mutation,NM_001289750,exon8,c.G599A,p.G200D,SNP,SNVindel,exonic,DLD,NA,nonsynonymous SNV,"DLD:NM_001289750:exon8:c.G599A:p.G200D,DLD:NM_001289751:exon9:c.G827A:p.G276D,DLD:NM_001289752:exon9:c.G752A:p.G251D,DLD:NM_000108:exon10:c.G896A:p.G299D",D,N,D,T,D,D
chr7,107605017,107605017,C,T,R010_S,LAMB1,Missense_Mutation,NM_002291,exon14,c.G1678A,p.E560K,SNP,SNVindel,exonic,LAMB1,NA,nonsynonymous SNV,LAMB1:NM_002291:exon14:c.G1678A:p.E560K,D,.,D,T,D,T
chr7,107704329,107704329,C,T,R010_S,LAMB4,Missense_Mutation,NM_001318046,exon22,c.G2938A,p.D980N,SNP,SNVindel,exonic,LAMB4,NA,nonsynonymous SNV,"LAMB4:NM_001318046:exon22:c.G2938A:p.D980N,LAMB4:NM_001318047:exon22:c.G2938A:p.D980N,LAMB4:NM_007356:exon22:c.G2938A:p.D980N",T,D,D,T,D,T
chr7,107847982,107847982,G,A,R010_S,NRCAM,Silent,NM_001371182,exon9,c.C1122T,p.V374V,SNP,SNVindel,exonic,NRCAM,NA,synonymous SNV,"NRCAM:NM_001371182:exon9:c.C1122T:p.V374V,NRCAM:NM_001371137:exon10:c.C270T:p.V90V,NRCAM:NM_001371164:exon10:c.C852T:p.V284V,NRCAM:NM_001371180:exon10:c.C909T:p.V303V,NRCAM:NM_001371181:exon10:c.C1140T:p.V380V,NRCAM:NM_001371125:exon11:c.C852T:p.V284V,NRCAM:NM_001371143:exon11:c.C852T:p.V284V,NRCAM:NM_001371148:exon11:c.C909T:p.V303V,NRCAM:NM_001371151:exon11:c.C1179T:p.V393V,NRCAM:NM_001371170:exon11:c.C909T:p.V303V,NRCAM:NM_001371176:exon11:c.C1179T:p.V393V,NRCAM:NM_001371177:exon11:c.C1140T:p.V380V,NRCAM:NM_001371178:exon11:c.C1179T:p.V393V,NRCAM:NM_001193583:exon12:c.C1140T:p.V380V,NRCAM:NM_001193584:exon12:c.C1140T:p.V380V,NRCAM:NM_001371119:exon12:c.C1140T:p.V380V,NRCAM:NM_001371122:exon12:c.C1140T:p.V380V,NRCAM:NM_001371124:exon12:c.C1140T:p.V380V,NRCAM:NM_001371129:exon12:c.C1140T:p.V380V,NRCAM:NM_001371134:exon12:c.C1176T:p.V392V,NRCAM:NM_001371135:exon12:c.C1140T:p.V380V,NRCAM:NM_001371136:exon12:c.C1179T:p.V393V,NRCAM:NM_001371140:exon12:c.C1140T:p.V380V,NRCAM:NM_001371142:exon12:c.C852T:p.V284V,NRCAM:NM_001371145:exon12:c.C1140T:p.V380V,NRCAM:NM_001371146:exon12:c.C1140T:p.V380V,NRCAM:NM_001371147:exon12:c.C852T:p.V284V,NRCAM:NM_001371152:exon12:c.C1179T:p.V393V,NRCAM:NM_001371154:exon12:c.C1140T:p.V380V,NRCAM:NM_001371157:exon12:c.C1179T:p.V393V,NRCAM:NM_001371158:exon12:c.C1140T:p.V380V,NRCAM:NM_001371160:exon12:c.C1179T:p.V393V,NRCAM:NM_001371172:exon12:c.C1140T:p.V380V,NRCAM:NM_001371175:exon12:c.C1179T:p.V393V,NRCAM:NM_001371179:exon12:c.C909T:p.V303V,NRCAM:NM_005010:exon12:c.C1179T:p.V393V,NRCAM:NM_001037132:exon13:c.C1197T:p.V399V,NRCAM:NM_001193582:exon13:c.C1197T:p.V399V,NRCAM:NM_001371123:exon13:c.C1197T:p.V399V,NRCAM:NM_001371126:exon13:c.C1140T:p.V380V,NRCAM:NM_001371127:exon13:c.C1194T:p.V398V,NRCAM:NM_001371130:exon13:c.C1179T:p.V393V,NRCAM:NM_001371132:exon13:c.C1140T:p.V380V,NRCAM:NM_001371133:exon13:c.C1179T:p.V393V,NRCAM:NM_001371138:exon13:c.C1197T:p.V399V,NRCAM:NM_001371139:exon13:c.C1140T:p.V380V,NRCAM:NM_001371141:exon13:c.C1140T:p.V380V,NRCAM:NM_001371149:exon13:c.C1197T:p.V399V,NRCAM:NM_001371150:exon13:c.C1197T:p.V399V,NRCAM:NM_001371156:exon13:c.C1197T:p.V399V,NRCAM:NM_001371159:exon13:c.C1197T:p.V399V,NRCAM:NM_001371161:exon13:c.C1197T:p.V399V,NRCAM:NM_001371162:exon13:c.C1140T:p.V380V,NRCAM:NM_001371166:exon13:c.C1140T:p.V380V,NRCAM:NM_001371167:exon13:c.C1140T:p.V380V,NRCAM:NM_001371169:exon13:c.C1197T:p.V399V,NRCAM:NM_001371171:exon13:c.C1179T:p.V393V,NRCAM:NM_001371173:exon13:c.C1197T:p.V399V,NRCAM:NM_001371174:exon13:c.C1197T:p.V399V,NRCAM:NM_001371128:exon14:c.C1197T:p.V399V,NRCAM:NM_001371131:exon14:c.C1197T:p.V399V,NRCAM:NM_001371144:exon14:c.C1197T:p.V399V,NRCAM:NM_001371153:exon14:c.C1197T:p.V399V,NRCAM:NM_001371155:exon14:c.C1140T:p.V380V,NRCAM:NM_001371163:exon14:c.C1140T:p.V380V,NRCAM:NM_001371165:exon14:c.C1140T:p.V380V,NRCAM:NM_001371168:exon14:c.C1197T:p.V399V",NA,NA,NA,NA,NA,NA
chr7,107880478,107880478,G,A,R010_S,NRCAM,Missense_Mutation,NM_001371181,exon2,c.C31T,p.R11C,SNP,SNVindel,exonic,NRCAM,NA,nonsynonymous SNV,"NRCAM:NM_001371181:exon2:c.C31T:p.R11C,NRCAM:NM_001371182:exon2:c.C31T:p.R11C,NRCAM:NM_001371151:exon3:c.C31T:p.R11C,NRCAM:NM_001371176:exon3:c.C31T:p.R11C,NRCAM:NM_001371177:exon3:c.C31T:p.R11C,NRCAM:NM_001371178:exon3:c.C31T:p.R11C,NRCAM:NM_001037132:exon4:c.C31T:p.R11C,NRCAM:NM_001193582:exon4:c.C31T:p.R11C,NRCAM:NM_001193583:exon4:c.C31T:p.R11C,NRCAM:NM_001193584:exon4:c.C31T:p.R11C,NRCAM:NM_001371119:exon4:c.C31T:p.R11C,NRCAM:NM_001371122:exon4:c.C31T:p.R11C,NRCAM:NM_001371123:exon4:c.C31T:p.R11C,NRCAM:NM_001371124:exon4:c.C31T:p.R11C,NRCAM:NM_001371127:exon4:c.C31T:p.R11C,NRCAM:NM_001371129:exon4:c.C31T:p.R11C,NRCAM:NM_001371134:exon4:c.C31T:p.R11C,NRCAM:NM_001371135:exon4:c.C31T:p.R11C,NRCAM:NM_001371136:exon4:c.C31T:p.R11C,NRCAM:NM_001371138:exon4:c.C31T:p.R11C,NRCAM:NM_001371140:exon4:c.C31T:p.R11C,NRCAM:NM_001371145:exon4:c.C31T:p.R11C,NRCAM:NM_001371146:exon4:c.C31T:p.R11C,NRCAM:NM_001371149:exon4:c.C31T:p.R11C,NRCAM:NM_001371150:exon4:c.C31T:p.R11C,NRCAM:NM_001371152:exon4:c.C31T:p.R11C,NRCAM:NM_001371154:exon4:c.C31T:p.R11C,NRCAM:NM_001371156:exon4:c.C31T:p.R11C,NRCAM:NM_001371157:exon4:c.C31T:p.R11C,NRCAM:NM_001371158:exon4:c.C31T:p.R11C,NRCAM:NM_001371159:exon4:c.C31T:p.R11C,NRCAM:NM_001371160:exon4:c.C31T:p.R11C,NRCAM:NM_001371161:exon4:c.C31T:p.R11C,NRCAM:NM_001371169:exon4:c.C31T:p.R11C,NRCAM:NM_001371172:exon4:c.C31T:p.R11C,NRCAM:NM_001371173:exon4:c.C31T:p.R11C,NRCAM:NM_001371174:exon4:c.C31T:p.R11C,NRCAM:NM_001371175:exon4:c.C31T:p.R11C,NRCAM:NM_005010:exon4:c.C31T:p.R11C,NRCAM:NM_001371126:exon5:c.C31T:p.R11C,NRCAM:NM_001371128:exon5:c.C31T:p.R11C,NRCAM:NM_001371130:exon5:c.C31T:p.R11C,NRCAM:NM_001371131:exon5:c.C31T:p.R11C,NRCAM:NM_001371132:exon5:c.C31T:p.R11C,NRCAM:NM_001371133:exon5:c.C31T:p.R11C,NRCAM:NM_001371139:exon5:c.C31T:p.R11C,NRCAM:NM_001371141:exon5:c.C31T:p.R11C,NRCAM:NM_001371144:exon5:c.C31T:p.R11C,NRCAM:NM_001371153:exon5:c.C31T:p.R11C,NRCAM:NM_001371162:exon5:c.C31T:p.R11C,NRCAM:NM_001371166:exon5:c.C31T:p.R11C,NRCAM:NM_001371167:exon5:c.C31T:p.R11C,NRCAM:NM_001371168:exon5:c.C31T:p.R11C,NRCAM:NM_001371171:exon5:c.C31T:p.R11C,NRCAM:NM_001371155:exon6:c.C31T:p.R11C,NRCAM:NM_001371163:exon6:c.C31T:p.R11C,NRCAM:NM_001371165:exon6:c.C31T:p.R11C",T,N,N,T,N,T
chr7,112424779,112424779,C,T,R010_S,TMEM168,Silent,NM_022484,exon2,c.G102A,p.R34R,SNP,SNVindel,exonic,TMEM168,NA,synonymous SNV,"TMEM168:NM_022484:exon2:c.G102A:p.R34R,TMEM168:NM_001287497:exon3:c.G102A:p.R34R",NA,NA,NA,NA,NA,NA
chr7,112724123,112724123,G,A,R010_S,GPR85,Silent,NM_001146266,exon2,c.C654T,p.V218V,SNP,SNVindel,exonic,GPR85,NA,synonymous SNV,"GPR85:NM_001146266:exon2:c.C654T:p.V218V,GPR85:NM_001146265:exon3:c.C654T:p.V218V,GPR85:NM_001146267:exon3:c.C654T:p.V218V,GPR85:NM_018970:exon3:c.C654T:p.V218V",NA,NA,NA,NA,NA,NA
chr7,113520143,113520143,G,A,R010_S,PPP1R3A,Missense_Mutation,NM_002711,exon4,c.C1004T,p.S335F,SNP,SNVindel,exonic,PPP1R3A,NA,nonsynonymous SNV,PPP1R3A:NM_002711:exon4:c.C1004T:p.S335F,D,N,D,T,D,T
chr7,115897503,115897503,C,T,R010_S,TES,Silent,NM_015641,exon7,c.C1233T,p.F411F,SNP,SNVindel,exonic,TES,NA,synonymous SNV,"TES:NM_015641:exon7:c.C1233T:p.F411F,TES:NM_152829:exon7:c.C1206T:p.F402F",NA,NA,NA,NA,NA,NA
chr7,117431218,117431218,G,A,R010_S,CTTNBP2,Missense_Mutation,NM_001363349,exon4,c.C1978T,p.P660S,SNP,SNVindel,exonic,CTTNBP2,NA,nonsynonymous SNV,"CTTNBP2:NM_001363349:exon4:c.C1978T:p.P660S,CTTNBP2:NM_033427:exon4:c.C2032T:p.P678S",T,D,D,T,N,T
chr7,120386040,120386040,G,A,R010_S,KCND2,Silent,NM_012281,exon5,c.G1674A,p.T558T,SNP,SNVindel,exonic,KCND2,NA,synonymous SNV,KCND2:NM_012281:exon5:c.G1674A:p.T558T,NA,NA,NA,NA,NA,NA
chr7,121000143,121000143,C,T,R010_S,FAM3C,Missense_Mutation,NM_001040020,exon8,c.G421A,p.D141N,SNP,SNVindel,exonic,FAM3C,NA,nonsynonymous SNV,"FAM3C:NM_001040020:exon8:c.G421A:p.D141N,FAM3C:NM_014888:exon8:c.G421A:p.D141N",T,D,D,T,N,T
chr7,121650799,121650799,G,A,R010_S,PTPRZ1,Missense_Mutation,NM_001206838,exon12,c.G1699A,p.E567K,SNP,SNVindel,exonic,PTPRZ1,NA,nonsynonymous SNV,"PTPRZ1:NM_001206838:exon12:c.G1699A:p.E567K,PTPRZ1:NM_001206839:exon12:c.G1699A:p.E567K,PTPRZ1:NM_001369395:exon12:c.G1699A:p.E567K,PTPRZ1:NM_002851:exon12:c.G1699A:p.E567K,PTPRZ1:NM_001369396:exon13:c.G1657A:p.E553K",D,N,D,T,N,T
chr7,122027080,122027080,C,T,R010_S,CADPS2,Silent,NM_001009571,exon21,c.G3174A,p.E1058E,SNP,SNVindel,exonic,CADPS2,NA,synonymous SNV,"CADPS2:NM_001009571:exon21:c.G3174A:p.E1058E,CADPS2:NM_001363398:exon21:c.G3174A:p.E1058E,CADPS2:NM_001363395:exon22:c.G3195A:p.E1065E,CADPS2:NM_001363397:exon22:c.G3183A:p.E1061E,CADPS2:NM_001363394:exon23:c.G3204A:p.E1068E,CADPS2:NM_001363396:exon23:c.G3192A:p.E1064E,CADPS2:NM_001167940:exon24:c.G3324A:p.E1108E,CADPS2:NM_001363391:exon24:c.G3324A:p.E1108E,CADPS2:NM_001363392:exon24:c.G3213A:p.E1071E,CADPS2:NM_001363393:exon24:c.G3213A:p.E1071E,CADPS2:NM_017954:exon24:c.G3312A:p.E1104E,CADPS2:NM_001363389:exon25:c.G3333A:p.E1111E,CADPS2:NM_001363390:exon25:c.G3333A:p.E1111E,CADPS2:NM_001363400:exon25:c.G2730A:p.E910E,CADPS2:NM_001363399:exon26:c.G2850A:p.E950E",NA,NA,NA,NA,NA,NA
chr7,123593779,123593779,C,T,R010_S,SPAM1,Missense_Mutation,NM_001174044,exon3,c.C155T,p.A52V,SNP,SNVindel,exonic,SPAM1,NA,nonsynonymous SNV,"SPAM1:NM_001174044:exon3:c.C155T:p.A52V,SPAM1:NM_001174046:exon3:c.C155T:p.A52V,SPAM1:NM_003117:exon3:c.C155T:p.A52V,SPAM1:NM_153189:exon3:c.C155T:p.A52V,SPAM1:NM_001174045:exon4:c.C155T:p.A52V",T,N,N,T,N,T
chr7,123599709,123599709,G,A,R010_S,SPAM1,Missense_Mutation,NM_001174044,exon5,c.G1216A,p.A406T,SNP,SNVindel,exonic,SPAM1,NA,nonsynonymous SNV,"SPAM1:NM_001174044:exon5:c.G1216A:p.A406T,SPAM1:NM_001174046:exon5:c.G1216A:p.A406T,SPAM1:NM_003117:exon5:c.G1216A:p.A406T,SPAM1:NM_153189:exon5:c.G1216A:p.A406T,SPAM1:NM_001174045:exon6:c.G1216A:p.A406T",T,N,N,T,N,T
chr7,127240337,127240337,G,A,R010_S,FSCN3,Missense_Mutation,NM_020369,exon6,c.G1381A,p.G461R,SNP,SNVindel,exonic,FSCN3,NA,nonsynonymous SNV,FSCN3:NM_020369:exon6:c.G1381A:p.G461R,T,D,D,T,N,T
chr7,127631000,127631000,G,A,R010_S,SND1,Missense_Mutation,NM_014390,exon16,c.G1670A,p.G557D,SNP,SNVindel,exonic,SND1,NA,nonsynonymous SNV,SND1:NM_014390:exon16:c.G1670A:p.G557D,D,D,D,T,D,T
chr7,128413850,128413850,G,A,R010_S,OPN1SW,Silent,NM_001708,exon4,c.C780T,p.V260V,SNP,SNVindel,exonic,OPN1SW,NA,synonymous SNV,OPN1SW:NM_001708:exon4:c.C780T:p.V260V,NA,NA,NA,NA,NA,NA
chr7,128455910,128455910,G,A,R010_S,CCDC136,Silent,NM_022742,exon16,c.G3288A,p.E1096E,SNP,SNVindel,exonic,CCDC136,NA,synonymous SNV,"CCDC136:NM_022742:exon16:c.G3288A:p.E1096E,CCDC136:NM_001367764:exon17:c.G3438A:p.E1146E",NA,NA,NA,NA,NA,NA
chr7,128478483,128478483,G,A,R010_S,FLNC,Missense_Mutation,NM_001127487,exon7,c.G1210A,p.G404R,SNP,SNVindel,exonic,FLNC,NA,nonsynonymous SNV,"FLNC:NM_001127487:exon7:c.G1210A:p.G404R,FLNC:NM_001458:exon7:c.G1210A:p.G404R",D,D,D,D,D,D
chr7,128505545,128505545,C,T,R010_S,ATP6V1F,Silent,NM_004231,exon2,c.C273T,p.I91I,SNP,SNVindel,exonic,ATP6V1F,NA,synonymous SNV,"ATP6V1F:NM_004231:exon2:c.C273T:p.I91I,ATP6V1F:NM_001198909:exon3:c.C357T:p.I119I",NA,NA,NA,NA,NA,NA
chr7,128517761,128517761,C,T,R010_S,KCP,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,KCP,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,128531134,128531134,G,A,R010_S,KCP,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,KCP,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,128585998,128585998,G,A,R010_S,IRF5,Missense_Mutation,NM_001098627,exon3,c.G295A,p.D99N,SNP,SNVindel,exonic,IRF5,NA,nonsynonymous SNV,"IRF5:NM_001098627:exon3:c.G295A:p.D99N,IRF5:NM_001098629:exon3:c.G295A:p.D99N,IRF5:NM_001098630:exon3:c.G295A:p.D99N,IRF5:NM_001242452:exon3:c.G295A:p.D99N,IRF5:NM_001347928:exon3:c.G295A:p.D99N,IRF5:NM_001364314:exon3:c.G295A:p.D99N,IRF5:NM_032643:exon3:c.G295A:p.D99N",D,N,D,D,D,D
chr7,128588313,128588313,G,A,R010_S,IRF5,Silent,NM_001242452,exon7,c.G924A,p.E308E,SNP,SNVindel,exonic,IRF5,NA,synonymous SNV,"IRF5:NM_001242452:exon7:c.G924A:p.E308E,IRF5:NM_001098627:exon8:c.G1182A:p.E394E,IRF5:NM_001098629:exon8:c.G1230A:p.E410E,IRF5:NM_001098630:exon8:c.G1182A:p.E394E,IRF5:NM_001347928:exon8:c.G1230A:p.E410E,IRF5:NM_001364314:exon8:c.G1230A:p.E410E,IRF5:NM_032643:exon8:c.G1182A:p.E394E",NA,NA,NA,NA,NA,NA
chr7,129096478,129096478,C,T,R010_S,STRIP2,Nonsense_Mutation,NM_001134336,exon9,c.C1033T,p.R345X,SNP,SNVindel,exonic,STRIP2,NA,stopgain,"STRIP2:NM_001134336:exon9:c.C1033T:p.R345X,STRIP2:NM_020704:exon9:c.C1033T:p.R345X",.,D,A,.,.,.
chr7,129152232,129152232,G,A,R010_S,SMKR1,Missense_Mutation,NM_001195243,exon2,c.G148A,p.G50S,SNP,SNVindel,exonic,SMKR1,NA,nonsynonymous SNV,SMKR1:NM_001195243:exon2:c.G148A:p.G50S,D,.,D,.,D,.
chr7,129929495,129929495,C,T,R010_S,CPA2,Missense_Mutation,NM_001869,exon11,c.C1168T,p.L390F,SNP,SNVindel,exonic,CPA2,NA,nonsynonymous SNV,CPA2:NM_001869:exon11:c.C1168T:p.L390F,D,D,D,T,D,T
chr7,132193160,132193160,G,A,R010_S,PLXNA4,Missense_Mutation,NM_001105543,exon2,c.C293T,p.P98L,SNP,SNVindel,exonic,PLXNA4,NA,nonsynonymous SNV,"PLXNA4:NM_001105543:exon2:c.C293T:p.P98L,PLXNA4:NM_020911:exon2:c.C293T:p.P98L,PLXNA4:NM_181775:exon3:c.C293T:p.P98L",D,U,D,T,D,T
chr7,133580394,133580394,C,T,R010_S,EXOC4,Silent,NM_021807,exon12,c.C1777T,p.L593L,SNP,SNVindel,exonic,EXOC4,NA,synonymous SNV,EXOC4:NM_021807:exon12:c.C1777T:p.L593L,NA,NA,NA,NA,NA,NA
chr7,133812331,133812331,G,A,R010_S,LRGUK,Missense_Mutation,NM_001365700,exon1,c.G211A,p.E71K,SNP,SNVindel,exonic,LRGUK,NA,nonsynonymous SNV,"LRGUK:NM_001365700:exon1:c.G211A:p.E71K,LRGUK:NM_001365701:exon1:c.G211A:p.E71K,LRGUK:NM_144648:exon1:c.G211A:p.E71K",T,N,N,T,N,T
chr7,134261136,134261136,C,T,R010_S,AKR1B15,Missense_Mutation,NM_001367820,exon8,c.C779T,p.P260L,SNP,SNVindel,exonic,AKR1B15,NA,nonsynonymous SNV,"AKR1B15:NM_001367820:exon8:c.C779T:p.P260L,AKR1B15:NM_001367821:exon8:c.C695T:p.P232L,AKR1B15:NM_001080538:exon9:c.C779T:p.P260L",D,.,D,T,D,T
chr7,134849748,134849748,C,T,R010_S,TMEM140,Silent,NM_018295,exon2,c.C555T,p.C185C,SNP,SNVindel,exonic,TMEM140,NA,synonymous SNV,TMEM140:NM_018295:exon2:c.C555T:p.C185C,NA,NA,NA,NA,NA,NA
chr7,134878013,134878013,C,T,R010_S,WDR91,Silent,NM_001362737,exon11,c.G1707A,p.L569L,SNP,SNVindel,exonic,WDR91,NA,synonymous SNV,"WDR91:NM_001362737:exon11:c.G1707A:p.L569L,WDR91:NM_001362738:exon11:c.G900A:p.L300L,WDR91:NM_014149:exon11:c.G1629A:p.L543L,WDR91:NM_001362736:exon12:c.G1686A:p.L562L",NA,NA,NA,NA,NA,NA
chr7,135370287,135370287,G,A,R010_S,SLC13A4,Missense_Mutation,NM_001318192,exon14,c.C1591T,p.P531S,SNP,SNVindel,exonic,SLC13A4,NA,nonsynonymous SNV,"SLC13A4:NM_001318192:exon14:c.C1591T:p.P531S,SLC13A4:NM_012450:exon14:c.C1588T:p.P530S",D,D,D,T,D,T
chr7,135377116,135377116,G,A,R010_S,SLC13A4,Missense_Mutation,NM_001318192,exon11,c.C1178T,p.T393I,SNP,SNVindel,exonic,SLC13A4,NA,nonsynonymous SNV,"SLC13A4:NM_001318192:exon11:c.C1178T:p.T393I,SLC13A4:NM_012450:exon11:c.C1175T:p.T392I",D,D,D,T,D,T
chr7,135390902,135390902,G,A,R010_S,SLC13A4,Missense_Mutation,NM_001318192,exon4,c.C512T,p.S171F,SNP,SNVindel,exonic,SLC13A4,NA,nonsynonymous SNV,"SLC13A4:NM_001318192:exon4:c.C512T:p.S171F,SLC13A4:NM_012450:exon4:c.C512T:p.S171F",D,N,N,T,N,T
chr7,138252324,138252324,C,T,R010_S,TRIM24,Silent,NM_003852,exon10,c.C1527T,p.N509N,SNP,SNVindel,exonic,TRIM24,NA,synonymous SNV,"TRIM24:NM_003852:exon10:c.C1527T:p.N509N,TRIM24:NM_015905:exon10:c.C1629T:p.N543N",NA,NA,NA,NA,NA,NA
chr7,138394391,138394391,G,A,R010_S,ATP6V0A4,Silent,NM_130840,exon20,c.C2407T,p.L803L,SNP,SNVindel,exonic,ATP6V0A4,NA,synonymous SNV,"ATP6V0A4:NM_130840:exon20:c.C2407T:p.L803L,ATP6V0A4:NM_130841:exon20:c.C2407T:p.L803L,ATP6V0A4:NM_020632:exon21:c.C2407T:p.L803L",NA,NA,NA,NA,NA,NA
chr7,138432269,138432269,C,T,R010_S,ATP6V0A4,Silent,NM_130840,exon12,c.G1221A,p.V407V,SNP,SNVindel,exonic,ATP6V0A4,NA,synonymous SNV,"ATP6V0A4:NM_130840:exon12:c.G1221A:p.V407V,ATP6V0A4:NM_130841:exon12:c.G1221A:p.V407V,ATP6V0A4:NM_020632:exon13:c.G1221A:p.V407V",NA,NA,NA,NA,NA,NA
chr7,138453551,138453551,G,A,R010_S,ATP6V0A4,Missense_Mutation,NM_130840,exon4,c.C265T,p.L89F,SNP,SNVindel,exonic,ATP6V0A4,NA,nonsynonymous SNV,"ATP6V0A4:NM_130840:exon4:c.C265T:p.L89F,ATP6V0A4:NM_130841:exon4:c.C265T:p.L89F,ATP6V0A4:NM_020632:exon5:c.C265T:p.L89F",T,D,D,D,N,T
chr7,138969010,138969010,G,A,R010_S,UBN2,Missense_Mutation,NM_173569,exon15,c.G3359A,p.S1120N,SNP,SNVindel,exonic,UBN2,NA,nonsynonymous SNV,UBN2:NM_173569:exon15:c.G3359A:p.S1120N,D,D,D,T,N,T
chr7,139094310,139094310,G,A,R010_S,FMC1-LUC7L2,Missense_Mutation,NM_016019,exon7,c.G689A,p.R230K,SNP,SNVindel,exonic,FMC1-LUC7L2;LUC7L2,NA,nonsynonymous SNV,"LUC7L2:NM_016019:exon7:c.G689A:p.R230K,FMC1-LUC7L2:NM_001244584:exon8:c.G887A:p.R296K,LUC7L2:NM_001244585:exon8:c.G680A:p.R227K,LUC7L2:NM_001270643:exon8:c.G686A:p.R229K",T,N,.,T,N,T
chr7,139168152,139168152,G,A,R010_S,KLRG2,Silent,NM_198508,exon1,c.C237T,p.R79R,SNP,SNVindel,exonic,KLRG2,NA,synonymous SNV,KLRG2:NM_198508:exon1:c.C237T:p.R79R,NA,NA,NA,NA,NA,NA
chr7,139415985,139415985,G,A,R010_S,HIPK2,Silent,NM_001113239,exon2,c.C849T,p.N283N,SNP,SNVindel,exonic,HIPK2,NA,synonymous SNV,"HIPK2:NM_001113239:exon2:c.C849T:p.N283N,HIPK2:NM_022740:exon2:c.C849T:p.N283N",NA,NA,NA,NA,NA,NA
chr7,139529245,139529245,C,T,R010_S,TBXAS1,Missense_Mutation,NM_001061,exon1,c.C56T,p.A19V,SNP,SNVindel,exonic,TBXAS1,NA,nonsynonymous SNV,"TBXAS1:NM_001061:exon1:c.C56T:p.A19V,TBXAS1:NM_001166253:exon1:c.C56T:p.A19V,TBXAS1:NM_001366538:exon1:c.C56T:p.A19V,TBXAS1:NM_030984:exon1:c.C56T:p.A19V,TBXAS1:NM_001130966:exon5:c.C56T:p.A19V",T,N,D,T,N,T
chr7,139717531,139717531,C,T,R010_S,TBXAS1,Silent,NM_001366537,exon11,c.C1242T,p.G414G,SNP,SNVindel,exonic,TBXAS1,NA,synonymous SNV,"TBXAS1:NM_001366537:exon11:c.C1242T:p.G414G,TBXAS1:NM_001061:exon12:c.C1425T:p.G475G,TBXAS1:NM_001314028:exon12:c.C1368T:p.G456G,TBXAS1:NM_001166253:exon13:c.C1563T:p.G521G,TBXAS1:NM_001166254:exon14:c.C1224T:p.G408G,TBXAS1:NM_001130966:exon16:c.C1425T:p.G475G",NA,NA,NA,NA,NA,NA
chr7,139790916,139790916,C,T,R010_S,KDM7A,Missense_Mutation,NM_030647,exon20,c.G2804A,p.G935D,SNP,SNVindel,exonic,KDM7A,NA,nonsynonymous SNV,KDM7A:NM_030647:exon20:c.G2804A:p.G935D,D,U,D,T,D,T
chr7,140125901,140125901,C,T,R010_S,RAB19,Missense_Mutation,NM_001008749,exon4,c.C605T,p.P202L,SNP,SNVindel,exonic,RAB19,NA,nonsynonymous SNV,RAB19:NM_001008749:exon4:c.C605T:p.P202L,D,D,D,T,D,T
chr7,140301947,140301947,C,T,R010_S,DENND2A,Missense_Mutation,NM_001318052,exon2,c.G251A,p.S84N,SNP,SNVindel,exonic,DENND2A,NA,nonsynonymous SNV,"DENND2A:NM_001318052:exon2:c.G251A:p.S84N,DENND2A:NM_001318053:exon3:c.G251A:p.S84N,DENND2A:NM_001362678:exon3:c.G251A:p.S84N,DENND2A:NM_015689:exon3:c.G251A:p.S84N",T,N,N,T,N,T
chr7,140774315,140774315,C,T,R010_S,TMEM178B,Missense_Mutation,NM_001195278,exon1,c.C205T,p.R69C,SNP,SNVindel,exonic,TMEM178B,NA,nonsynonymous SNV,TMEM178B:NM_001195278:exon1:c.C205T:p.R69C,D,.,D,T,N,.
chr7,141618957,141618957,G,A,R010_S,OR9A4,Silent,NM_001001656,exon1,c.G282A,p.L94L,SNP,SNVindel,exonic,OR9A4,NA,synonymous SNV,OR9A4:NM_001001656:exon1:c.G282A:p.L94L,NA,NA,NA,NA,NA,NA
chr7,141631540,141631540,G,A,R010_S,CLEC5A,Silent,NM_001301167,exon5,c.C363T,p.N121N,SNP,SNVindel,exonic,CLEC5A,NA,synonymous SNV,"CLEC5A:NM_001301167:exon5:c.C363T:p.N121N,CLEC5A:NM_013252:exon6:c.C432T:p.N144N",NA,NA,NA,NA,NA,NA
chr7,141708496,141708496,G,A,R010_S,MGAM,Silent,NM_001365693,exon3,c.G318A,p.P106P,SNP,SNVindel,exonic,MGAM,NA,synonymous SNV,"MGAM:NM_001365693:exon3:c.G318A:p.P106P,MGAM:NM_004668:exon3:c.G318A:p.P106P",NA,NA,NA,NA,NA,NA
chr7,141755487,141755487,G,A,R010_S,MGAM,Nonsense_Mutation,NM_001365693,exon28,c.G3444A,p.W1148X,SNP,SNVindel,exonic,MGAM,NA,stopgain,"MGAM:NM_001365693:exon28:c.G3444A:p.W1148X,MGAM:NM_004668:exon28:c.G3444A:p.W1148X",.,.,A,.,.,.
chr7,142723447,142723447,G,A,R010_S,OR9A2,Missense_Mutation,NM_001001658,exon1,c.C773T,p.P258L,SNP,SNVindel,exonic,OR9A2,NA,nonsynonymous SNV,OR9A2:NM_001001658:exon1:c.C773T:p.P258L,D,U,D,T,D,T
chr7,143080075,143080075,C,T,R010_S,ZYX,Missense_Mutation,NM_001362783,exon4,c.C590T,p.P197L,SNP,SNVindel,exonic,ZYX,NA,nonsynonymous SNV,"ZYX:NM_001362783:exon4:c.C590T:p.P197L,ZYX:NM_001010972:exon5:c.C683T:p.P228L,ZYX:NM_003461:exon5:c.C683T:p.P228L",D,U,N,T,D,T
chr7,143573436,143573436,C,T,R010_S,TCAF1,Missense_Mutation,NM_001206938,exon2,c.G266A,p.G89E,SNP,SNVindel,exonic,TCAF1,NA,nonsynonymous SNV,"TCAF1:NM_001206938:exon2:c.G266A:p.G89E,TCAF1:NM_014719:exon2:c.G266A:p.G89E",T,N,N,T,N,T
chr7,146471447,146471447,G,A,R010_S,CNTNAP2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CNTNAP2,NA,unknown,UNKNOWN,D,D,D,D,D,D
chr7,147259273,147259273,G,A,R010_S,CNTNAP2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CNTNAP2,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,147815285,147815285,G,A,R010_S,CNTNAP2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,CNTNAP2,NA,unknown,UNKNOWN,D,D,D,T,N,D
chr7,148801247,148801247,G,A,R010_S,ZNF425,Silent,NM_001001661,exon4,c.C1716T,p.H572H,SNP,SNVindel,exonic,ZNF425,NA,synonymous SNV,ZNF425:NM_001001661:exon4:c.C1716T:p.H572H,NA,NA,NA,NA,NA,NA
chr7,148876774,148876774,C,T,R010_S,ZNF398,Missense_Mutation,NM_170686,exon6,c.C1810T,p.P604S,SNP,SNVindel,exonic,ZNF398,NA,nonsynonymous SNV,"ZNF398:NM_170686:exon6:c.C1810T:p.P604S,ZNF398:NM_020781:exon7:c.C1297T:p.P433S",D,D,D,T,N,T
chr7,149133801,149133801,C,T,R010_S,ZNF777,Missense_Mutation,NM_015694,exon5,c.G1204A,p.E402K,SNP,SNVindel,exonic,ZNF777,NA,nonsynonymous SNV,ZNF777:NM_015694:exon5:c.G1204A:p.E402K,T,N,D,T,N,T
chr7,149463050,149463050,G,A,R010_S,ZNF467,Silent,NM_207336,exon5,c.C541T,p.L181L,SNP,SNVindel,exonic,ZNF467,NA,synonymous SNV,ZNF467:NM_207336:exon5:c.C541T:p.L181L,NA,NA,NA,NA,NA,NA
chr7,150646069,150646069,G,A,R010_S,KCNH2,Missense_Mutation,NM_172057,exon6,c.C1447T,p.R483W,SNP,SNVindel,exonic,KCNH2,NA,nonsynonymous SNV,"KCNH2:NM_172057:exon6:c.C1447T:p.R483W,KCNH2:NM_000238:exon10:c.C2467T:p.R823W",D,D,D,D,D,D
chr7,150707203,150707203,G,A,R010_S,NOS3,Missense_Mutation,NM_000603,exon21,c.G2513A,p.G838D,SNP,SNVindel,exonic,NOS3,NA,nonsynonymous SNV,NOS3:NM_000603:exon21:c.G2513A:p.G838D,T,N,D,T,N,T
chr7,150713075,150713075,C,T,R010_S,ATG9B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ATG9B,NA,unknown,UNKNOWN,.,N,.,.,.,T
chr7,150761786,150761786,G,A,R010_S,SLC4A2,Missense_Mutation,NM_001199693,exon3,c.G364A,p.A122T,SNP,SNVindel,exonic,SLC4A2,NA,nonsynonymous SNV,"SLC4A2:NM_001199693:exon3:c.G364A:p.A122T,SLC4A2:NM_001199694:exon3:c.G349A:p.A117T,SLC4A2:NM_001199692:exon4:c.G391A:p.A131T,SLC4A2:NM_003040:exon4:c.G391A:p.A131T",T,N,N,T,N,T
chr7,150767272,150767272,C,T,R010_S,SLC4A2,Missense_Mutation,NM_001199693,exon9,c.C1261T,p.P421S,SNP,SNVindel,exonic,SLC4A2,NA,nonsynonymous SNV,"SLC4A2:NM_001199693:exon9:c.C1261T:p.P421S,SLC4A2:NM_001199694:exon9:c.C1246T:p.P416S,SLC4A2:NM_001199692:exon10:c.C1288T:p.P430S,SLC4A2:NM_003040:exon10:c.C1288T:p.P430S",D,D,D,T,D,T
chr7,150767300,150767300,C,T,R010_S,SLC4A2,Missense_Mutation,NM_001199693,exon9,c.C1289T,p.P430L,SNP,SNVindel,exonic,SLC4A2,NA,nonsynonymous SNV,"SLC4A2:NM_001199693:exon9:c.C1289T:p.P430L,SLC4A2:NM_001199694:exon9:c.C1274T:p.P425L,SLC4A2:NM_001199692:exon10:c.C1316T:p.P439L,SLC4A2:NM_003040:exon10:c.C1316T:p.P439L",T,N,D,T,D,T
chr7,150777849,150777849,C,T,R010_S,FASTK,Missense_Mutation,NM_001258461,exon1,c.G5A,p.R2K,SNP,SNVindel,exonic,FASTK,NA,nonsynonymous SNV,"FASTK:NM_001258461:exon1:c.G5A:p.R2K,FASTK:NM_006712:exon1:c.G5A:p.R2K,FASTK:NM_033015:exon1:c.G5A:p.R2K",D,.,D,T,N,T
chr7,150915648,150915648,C,T,R010_S,ABCF2,Missense_Mutation,NM_005692,exon10,c.G1226A,p.G409E,SNP,SNVindel,exonic,ABCF2;LOC114483834,NA,nonsynonymous SNV,"LOC114483834:NM_005692:exon10:c.G1226A:p.G409E,ABCF2:NM_007189:exon10:c.G1226A:p.G409E",T,N,D,D,N,T
chr7,150931283,150931283,C,T,R010_S,CHPF2,Silent,NM_019015,exon1,c.C186T,p.D62D,SNP,SNVindel,exonic,CHPF2,NA,synonymous SNV,"CHPF2:NM_019015:exon1:c.C186T:p.D62D,CHPF2:NM_001284295:exon2:c.C162T:p.D54D",NA,NA,NA,NA,NA,NA
chr7,151478371,151478371,C,T,R010_S,PRKAG2,Silent,NM_001040633,exon3,c.G201A,p.Q67Q,SNP,SNVindel,exonic,PRKAG2,NA,synonymous SNV,"PRKAG2:NM_001040633:exon3:c.G201A:p.Q67Q,PRKAG2:NM_016203:exon3:c.G333A:p.Q111Q",NA,NA,NA,NA,NA,NA
chr7,151845600,151845600,G,A,R010_S,KMT2C,Missense_Mutation,NM_170606,exon52,c.C13412T,p.T4471I,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon52:c.C13412T:p.T4471I,D,U,D,T,D,D
chr7,151845697,151845697,C,T,R010_S,KMT2C,Missense_Mutation,NM_170606,exon52,c.G13315A,p.V4439I,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon52:c.G13315A:p.V4439I,D,U,D,T,N,D
chr7,151845906,151845906,C,T,R010_S,KMT2C,Missense_Mutation,NM_170606,exon52,c.G13106A,p.G4369E,SNP,SNVindel,exonic,KMT2C,NA,nonsynonymous SNV,KMT2C:NM_170606:exon52:c.G13106A:p.G4369E,D,U,D,D,D,D
chr7,155090384,155090384,C,T,R010_S,INSIG1,Missense_Mutation,NM_001346590,exon2,c.C389T,p.P130L,SNP,SNVindel,exonic,INSIG1,NA,nonsynonymous SNV,"INSIG1:NM_001346590:exon2:c.C389T:p.P130L,INSIG1:NM_001346591:exon2:c.C389T:p.P130L,INSIG1:NM_001346592:exon2:c.C389T:p.P130L,INSIG1:NM_001346593:exon2:c.C389T:p.P130L,INSIG1:NM_001346594:exon2:c.C389T:p.P130L,INSIG1:NM_005542:exon2:c.C389T:p.P130L,INSIG1:NM_198337:exon2:c.C389T:p.P130L",D,D,D,T,D,T
chr7,156469053,156469053,G,A,R010_S,RNF32,Missense_Mutation,NM_001308273,exon9,c.G917A,p.S306N,SNP,SNVindel,exonic,RNF32,NA,nonsynonymous SNV,RNF32:NM_001308273:exon9:c.G917A:p.S306N,D,.,N,T,N,T
chr7,156756652,156756652,C,T,R010_S,NOM1,Silent,NM_001353366,exon7,c.C1968T,p.I656I,SNP,SNVindel,exonic,NOM1,NA,synonymous SNV,"NOM1:NM_001353366:exon7:c.C1968T:p.I656I,NOM1:NM_138400:exon7:c.C1965T:p.I655I",NA,NA,NA,NA,NA,NA
chr7,156798269,156798269,G,A,R010_S,MNX1,Missense_Mutation,NM_001165255,exon3,c.C515T,p.S172F,SNP,SNVindel,exonic,MNX1,NA,nonsynonymous SNV,"MNX1:NM_001165255:exon3:c.C515T:p.S172F,MNX1:NM_005515:exon3:c.C1151T:p.S384F",D,U,D,D,N,D
chr7,156802434,156802434,C,T,R010_S,MNX1,Missense_Mutation,NM_005515,exon1,c.G611A,p.G204D,SNP,SNVindel,exonic,MNX1,NA,nonsynonymous SNV,MNX1:NM_005515:exon1:c.G611A:p.G204D,D,U,D,D,N,T
chr7,156974960,156974960,G,A,R010_S,UBE3C,Missense_Mutation,NM_014671,exon8,c.G929A,p.R310K,SNP,SNVindel,exonic,UBE3C,NA,nonsynonymous SNV,UBE3C:NM_014671:exon8:c.G929A:p.R310K,T,N,N,T,N,T
chr7,158380305,158380305,G,A,R010_S,PTPRN2,Silent,NM_001308267,exon1,c.C57T,p.V19V,SNP,SNVindel,exonic,PTPRN2,NA,synonymous SNV,"PTPRN2:NM_001308267:exon1:c.C57T:p.V19V,PTPRN2:NM_002847:exon1:c.C57T:p.V19V,PTPRN2:NM_130842:exon1:c.C57T:p.V19V,PTPRN2:NM_130843:exon1:c.C57T:p.V19V",NA,NA,NA,NA,NA,NA
chr7,158439156,158439156,C,T,R010_S,NCAPG2,Missense_Mutation,NM_001281933,exon25,c.G3175A,p.V1059I,SNP,SNVindel,exonic,NCAPG2,NA,nonsynonymous SNV,"NCAPG2:NM_001281933:exon25:c.G3175A:p.V1059I,NCAPG2:NM_017760:exon25:c.G3175A:p.V1059I,NCAPG2:NM_001281932:exon26:c.G3175A:p.V1059I",T,N,N,T,N,T
chr7,158451089,158451089,G,A,R010_S,NCAPG2,Silent,NM_001281933,exon17,c.C2001T,p.C667C,SNP,SNVindel,exonic,NCAPG2,NA,synonymous SNV,"NCAPG2:NM_001281933:exon17:c.C2001T:p.C667C,NCAPG2:NM_017760:exon17:c.C2001T:p.C667C,NCAPG2:NM_001281932:exon18:c.C2001T:p.C667C",NA,NA,NA,NA,NA,NA
chr7,158534420,158534420,C,T,R010_S,ESYT2,Silent,NM_020728,exon17,c.G1899A,p.G633G,SNP,SNVindel,exonic,ESYT2,NA,synonymous SNV,"ESYT2:NM_020728:exon17:c.G1899A:p.G633G,ESYT2:NM_001367773:exon18:c.G1962A:p.G654G",NA,NA,NA,NA,NA,NA
chr7,158672523,158672523,C,T,R010_S,WDR60,Missense_Mutation,NM_001350914,exon5,c.C584T,p.S195F,SNP,SNVindel,exonic,WDR60,NA,nonsynonymous SNV,"WDR60:NM_001350914:exon5:c.C584T:p.S195F,WDR60:NM_001350915:exon5:c.C205T:p.P69S,WDR60:NM_018051:exon5:c.C722T:p.S241F",T,N,N,T,D,T
chr8,418763,418763,C,T,R010_S,FBXO25,Missense_Mutation,NM_012173,exon9,c.C835T,p.P279S,SNP,SNVindel,exonic,FBXO25,NA,nonsynonymous SNV,"FBXO25:NM_012173:exon9:c.C835T:p.P279S,FBXO25:NM_183420:exon10:c.C1036T:p.P346S,FBXO25:NM_183421:exon11:c.C1063T:p.P355S",T,D,D,T,D,T
chr8,1876628,1876628,C,T,R010_S,ARHGEF10,Silent,NM_001308152,exon23,c.C2619T,p.A873A,SNP,SNVindel,exonic,ARHGEF10,NA,synonymous SNV,"ARHGEF10:NM_001308152:exon23:c.C2619T:p.A873A,ARHGEF10:NM_014629:exon24:c.C2733T:p.A911A,ARHGEF10:NM_001308153:exon25:c.C2805T:p.A935A",NA,NA,NA,NA,NA,NA
chr8,2040192,2040192,G,A,R010_S,MYOM2,Missense_Mutation,NM_003970,exon16,c.G1847A,p.G616D,SNP,SNVindel,exonic,MYOM2,NA,nonsynonymous SNV,MYOM2:NM_003970:exon16:c.G1847A:p.G616D,D,D,D,T,D,T
chr8,6914097,6914097,G,A,R010_S,DEFA5,Silent,NM_021010,exon1,c.C123T,p.D41D,SNP,SNVindel,exonic,DEFA5,NA,synonymous SNV,DEFA5:NM_021010:exon1:c.C123T:p.D41D,NA,NA,NA,NA,NA,NA
chr8,8750038,8750038,G,A,R010_S,MFHAS1,Silent,NM_004225,exon1,c.C531T,p.L177L,SNP,SNVindel,exonic,MFHAS1,NA,synonymous SNV,MFHAS1:NM_004225:exon1:c.C531T:p.L177L,NA,NA,NA,NA,NA,NA
chr8,9564327,9564327,G,A,R010_S,TNKS,Missense_Mutation,NM_003747,exon8,c.G1276A,p.A426T,SNP,SNVindel,exonic,TNKS,NA,nonsynonymous SNV,TNKS:NM_003747:exon8:c.G1276A:p.A426T,D,D,D,T,D,T
chr8,10465530,10465530,C,T,R010_S,RP1L1,Silent,NM_178857,exon4,c.G6078A,p.Q2026Q,SNP,SNVindel,exonic,RP1L1,NA,synonymous SNV,RP1L1:NM_178857:exon4:c.G6078A:p.Q2026Q,NA,NA,NA,NA,NA,NA
chr8,11640838,11640838,C,T,R010_S,NEIL2,Silent,NM_001135747,exon3,c.C435T,p.A145A,SNP,SNVindel,exonic,NEIL2,NA,synonymous SNV,"NEIL2:NM_001135747:exon3:c.C435T:p.A145A,NEIL2:NM_001349441:exon3:c.C435T:p.A145A,NEIL2:NM_001135746:exon4:c.C618T:p.A206A,NEIL2:NM_001135748:exon4:c.C270T:p.A90A,NEIL2:NM_001349439:exon4:c.C435T:p.A145A,NEIL2:NM_001349440:exon4:c.C435T:p.A145A,NEIL2:NM_145043:exon4:c.C618T:p.A206A,NEIL2:NM_001349442:exon5:c.C618T:p.A206A",NA,NA,NA,NA,NA,NA
chr8,13357268,13357268,C,T,R010_S,DLC1,Missense_Mutation,NM_001348081,exon2,c.G313A,p.E105K,SNP,SNVindel,exonic,DLC1,NA,nonsynonymous SNV,"DLC1:NM_001348081:exon2:c.G313A:p.E105K,DLC1:NM_024767:exon2:c.G313A:p.E105K,DLC1:NM_182643:exon2:c.G313A:p.E105K",D,D,D,T,N,T
chr8,18430135,18430135,G,A,R010_S,PSD3,Missense_Mutation,NM_206909,exon11,c.C1085T,p.A362V,SNP,SNVindel,exonic,PSD3,NA,nonsynonymous SNV,"PSD3:NM_206909:exon11:c.C1085T:p.A362V,PSD3:NM_001362819:exon13:c.C2588T:p.A863V,PSD3:NM_015310:exon14:c.C2687T:p.A896V",D,U,D,T,D,D
chr8,21767335,21767335,G,A,R010_S,DOK2,Silent,NM_001317800,exon3,c.C264T,p.I88I,SNP,SNVindel,exonic,DOK2,NA,synonymous SNV,"DOK2:NM_001317800:exon3:c.C264T:p.I88I,DOK2:NM_201349:exon4:c.C264T:p.I88I,DOK2:NM_003974:exon5:c.C726T:p.I242I",NA,NA,NA,NA,NA,NA
chr8,21976783,21976783,G,A,R010_S,HR,Silent,NM_005144,exon15,c.C2991T,p.H997H,SNP,SNVindel,exonic,HR,NA,synonymous SNV,"HR:NM_005144:exon15:c.C2991T:p.H997H,HR:NM_018411:exon15:c.C2991T:p.H997H",NA,NA,NA,NA,NA,NA
chr8,21986548,21986548,G,A,R010_S,HR,Missense_Mutation,NM_005144,exon2,c.C136T,p.P46S,SNP,SNVindel,exonic,HR,NA,nonsynonymous SNV,"HR:NM_005144:exon2:c.C136T:p.P46S,HR:NM_018411:exon2:c.C136T:p.P46S",D,N,N,T,N,T
chr8,21995887,21995887,G,A,R010_S,REEP4,Silent,NM_001316964,exon7,c.C732T,p.T244T,SNP,SNVindel,exonic,REEP4,NA,synonymous SNV,REEP4:NM_001316964:exon7:c.C732T:p.T244T,NA,NA,NA,NA,NA,NA
chr8,22059357,22059357,G,A,R010_S,BMP1,Missense_Mutation,NM_006129,exon16,c.G2149A,p.D717N,SNP,SNVindel,exonic,BMP1,NA,nonsynonymous SNV,BMP1:NM_006129:exon16:c.G2149A:p.D717N,T,U,D,D,N,T
chr8,22277122,22277122,C,T,R010_S,SLC39A14,Missense_Mutation,NM_001128431,exon9,c.C1390T,p.P464S,SNP,SNVindel,exonic,SLC39A14,NA,nonsynonymous SNV,"SLC39A14:NM_001128431:exon9:c.C1390T:p.P464S,SLC39A14:NM_001135153:exon9:c.C1390T:p.P464S,SLC39A14:NM_001351659:exon9:c.C1420T:p.P474S,SLC39A14:NM_001351660:exon9:c.C1390T:p.P464S,SLC39A14:NM_015359:exon9:c.C1390T:p.P464S,SLC39A14:NM_001351655:exon10:c.C1390T:p.P464S,SLC39A14:NM_001351658:exon10:c.C1420T:p.P474S,SLC39A14:NM_001351656:exon11:c.C1390T:p.P464S,SLC39A14:NM_001351657:exon11:c.C1420T:p.P474S",T,N,D,T,N,T
chr8,22370882,22370882,G,A,R010_S,PPP3CC,Missense_Mutation,NM_001243974,exon6,c.G707A,p.G236D,SNP,SNVindel,exonic,PPP3CC,NA,nonsynonymous SNV,"PPP3CC:NM_001243974:exon6:c.G707A:p.G236D,PPP3CC:NM_001243975:exon6:c.G707A:p.G236D,PPP3CC:NM_005605:exon6:c.G707A:p.G236D",T,D,D,T,D,T
chr8,22464733,22464733,C,T,R010_S,CCAR2,Missense_Mutation,NM_001363068,exon6,c.C382T,p.P128S,SNP,SNVindel,exonic,CCAR2,NA,nonsynonymous SNV,"CCAR2:NM_001363068:exon6:c.C382T:p.P128S,CCAR2:NM_001363069:exon6:c.C382T:p.P128S,CCAR2:NM_021174:exon6:c.C382T:p.P128S",T,D,D,T,N,T
chr8,22475960,22475960,C,T,R010_S,CCAR2,Silent,NM_001363068,exon17,c.C2169T,p.D723D,SNP,SNVindel,exonic,CCAR2,NA,synonymous SNV,"CCAR2:NM_001363068:exon17:c.C2169T:p.D723D,CCAR2:NM_001363069:exon17:c.C2169T:p.D723D,CCAR2:NM_021174:exon17:c.C2172T:p.D724D",NA,NA,NA,NA,NA,NA
chr8,23148946,23148946,G,A,R010_S,R3HCC1,Missense_Mutation,NM_001136108,exon5,c.G925A,p.E309K,SNP,SNVindel,exonic,R3HCC1,NA,nonsynonymous SNV,"R3HCC1:NM_001136108:exon5:c.G925A:p.E309K,R3HCC1:NM_001301650:exon6:c.G799A:p.E267K",T,N,D,T,N,T
chr8,23563924,23563924,C,T,R010_S,NKX2-6,Missense_Mutation,NM_001136271,exon1,c.G188A,p.G63D,SNP,SNVindel,exonic,NKX2-6,NA,nonsynonymous SNV,NKX2-6:NM_001136271:exon1:c.G188A:p.G63D,T,U,N,D,N,T
chr8,24774920,24774920,C,T,R010_S,NEFM,Missense_Mutation,NM_001105541,exon3,c.C424T,p.P142S,SNP,SNVindel,exonic,NEFM,NA,nonsynonymous SNV,"NEFM:NM_001105541:exon3:c.C424T:p.P142S,NEFM:NM_005382:exon3:c.C1552T:p.P518S",T,N,D,D,D,D
chr8,27297886,27297886,C,T,R010_S,PTK2B,Missense_Mutation,NM_173175,exon21,c.C1967T,p.T656I,SNP,SNVindel,exonic,PTK2B,NA,nonsynonymous SNV,"PTK2B:NM_173175:exon21:c.C1967T:p.T656I,PTK2B:NM_173176:exon21:c.C1967T:p.T656I,PTK2B:NM_004103:exon22:c.C1967T:p.T656I,PTK2B:NM_173174:exon26:c.C1967T:p.T656I",D,D,D,T,D,T
chr8,27303353,27303353,C,T,R010_S,PTK2B,Missense_Mutation,NM_173176,exon24,c.C2257T,p.P753S,SNP,SNVindel,exonic,PTK2B,NA,nonsynonymous SNV,"PTK2B:NM_173176:exon24:c.C2257T:p.P753S,PTK2B:NM_004103:exon25:c.C2257T:p.P753S,PTK2B:NM_173174:exon29:c.C2257T:p.P753S",T,D,D,T,N,T
chr8,27303379,27303379,C,T,R010_S,PTK2B,Silent,NM_173176,exon24,c.C2283T,p.N761N,SNP,SNVindel,exonic,PTK2B,NA,synonymous SNV,"PTK2B:NM_173176:exon24:c.C2283T:p.N761N,PTK2B:NM_004103:exon25:c.C2283T:p.N761N,PTK2B:NM_173174:exon29:c.C2283T:p.N761N",NA,NA,NA,NA,NA,NA
chr8,27779381,27779381,C,T,R010_S,SCARA5,Missense_Mutation,NM_173833,exon4,c.G623A,p.G208E,SNP,SNVindel,exonic,SCARA5,NA,nonsynonymous SNV,SCARA5:NM_173833:exon4:c.G623A:p.G208E,T,N,D,D,N,T
chr8,28409146,28409146,G,A,R010_S,FZD3,Silent,NM_145866,exon5,c.G1431A,p.L477L,SNP,SNVindel,exonic,FZD3,NA,synonymous SNV,"FZD3:NM_145866:exon5:c.G1431A:p.L477L,FZD3:NM_017412:exon6:c.G1431A:p.L477L",NA,NA,NA,NA,NA,NA
chr8,28574043,28574043,C,T,R010_S,EXTL3,Missense_Mutation,NM_001440,exon3,c.C467T,p.P156L,SNP,SNVindel,exonic,EXTL3,NA,nonsynonymous SNV,EXTL3:NM_001440:exon3:c.C467T:p.P156L,D,D,D,D,D,D
chr8,28908603,28908603,C,T,R010_S,HMBOX1,Silent,NM_001135726,exon10,c.C1194T,p.N398N,SNP,SNVindel,exonic,HMBOX1,NA,synonymous SNV,"HMBOX1:NM_001135726:exon10:c.C1194T:p.N398N,HMBOX1:NM_001324382:exon10:c.C1194T:p.N398N,HMBOX1:NM_001324386:exon10:c.C1191T:p.N397N,HMBOX1:NM_001324387:exon10:c.C1188T:p.N396N,HMBOX1:NM_001324388:exon10:c.C1188T:p.N396N,HMBOX1:NM_001324383:exon11:c.C1266T:p.N422N,HMBOX1:NM_001324384:exon11:c.C1266T:p.N422N,HMBOX1:NM_001324385:exon11:c.C1260T:p.N420N,HMBOX1:NM_001330498:exon11:c.C1263T:p.N421N,HMBOX1:NM_024567:exon11:c.C1194T:p.N398N",NA,NA,NA,NA,NA,NA
chr8,28967000,28967000,C,T,R010_S,KIF13B,Missense_Mutation,NM_015254,exon34,c.G4112A,p.G1371E,SNP,SNVindel,exonic,KIF13B,NA,nonsynonymous SNV,KIF13B:NM_015254:exon34:c.G4112A:p.G1371E,T,D,D,T,N,T
chr8,30702541,30702541,C,T,R010_S,TEX15,Silent,NM_001350162,exon8,c.G5142A,p.K1714K,SNP,SNVindel,exonic,TEX15,NA,synonymous SNV,TEX15:NM_001350162:exon8:c.G5142A:p.K1714K,NA,NA,NA,NA,NA,NA
chr8,30889882,30889882,G,A,R010_S,PURG,Silent,NM_001015508,exon1,c.C417T,p.G139G,SNP,SNVindel,exonic,PURG,NA,synonymous SNV,"PURG:NM_001015508:exon1:c.C417T:p.G139G,PURG:NM_013357:exon1:c.C417T:p.G139G,PURG:NM_001323311:exon2:c.C417T:p.G139G,PURG:NM_001323312:exon2:c.C417T:p.G139G",NA,NA,NA,NA,NA,NA
chr8,30982136,30982136,G,A,R010_S,WRN,Missense_Mutation,NM_000553,exon22,c.G2729A,p.R910K,SNP,SNVindel,exonic,WRN,NA,nonsynonymous SNV,WRN:NM_000553:exon22:c.G2729A:p.R910K,D,D,D,T,D,D
chr8,38095658,38095658,C,T,R010_S,DDHD2,Missense_Mutation,NM_001164232,exon5,c.C553T,p.P185S,SNP,SNVindel,exonic,DDHD2,NA,nonsynonymous SNV,"DDHD2:NM_001164232:exon5:c.C553T:p.P185S,DDHD2:NM_001164234:exon5:c.C553T:p.P185S,DDHD2:NM_001362911:exon5:c.C553T:p.P185S,DDHD2:NM_001362912:exon5:c.C553T:p.P185S,DDHD2:NM_001362913:exon5:c.C553T:p.P185S,DDHD2:NM_001362914:exon5:c.C553T:p.P185S,DDHD2:NM_015214:exon5:c.C553T:p.P185S",T,N,D,T,N,T
chr8,38097815,38097815,C,T,R010_S,DDHD2,Silent,NM_001164232,exon6,c.C645T,p.H215H,SNP,SNVindel,exonic,DDHD2,NA,synonymous SNV,"DDHD2:NM_001164232:exon6:c.C645T:p.H215H,DDHD2:NM_001362911:exon6:c.C645T:p.H215H,DDHD2:NM_001362912:exon6:c.C645T:p.H215H,DDHD2:NM_001362914:exon6:c.C645T:p.H215H,DDHD2:NM_015214:exon6:c.C645T:p.H215H",NA,NA,NA,NA,NA,NA
chr8,38282121,38282121,C,T,R010_S,FGFR1,Missense_Mutation,NM_001174066,exon6,c.G575A,p.S192N,SNP,SNVindel,exonic,FGFR1,NA,nonsynonymous SNV,"FGFR1:NM_001174066:exon6:c.G575A:p.S192N,FGFR1:NM_001354368:exon6:c.G569A:p.S190N,FGFR1:NM_001354370:exon6:c.G569A:p.S190N,FGFR1:NM_023105:exon6:c.G575A:p.S192N,FGFR1:NM_023106:exon6:c.G569A:p.S190N,FGFR1:NM_001174063:exon7:c.G842A:p.S281N,FGFR1:NM_001174065:exon7:c.G836A:p.S279N,FGFR1:NM_001354367:exon7:c.G836A:p.S279N,FGFR1:NM_001354369:exon7:c.G836A:p.S279N,FGFR1:NM_015850:exon7:c.G836A:p.S279N,FGFR1:NM_023110:exon7:c.G842A:p.S281N,FGFR1:NM_001174064:exon8:c.G818A:p.S273N,FGFR1:NM_001174067:exon8:c.G935A:p.S312N",D,D,D,T,D,D
chr8,38696041,38696041,C,T,R010_S,TACC1,Silent,NM_001122824,exon6,c.C663T,p.T221T,SNP,SNVindel,exonic,TACC1,NA,synonymous SNV,"TACC1:NM_001122824:exon6:c.C663T:p.T221T,TACC1:NM_001352803:exon6:c.C576T:p.T192T,TACC1:NM_001352804:exon6:c.C492T:p.T164T,TACC1:NM_001352789:exon7:c.C1308T:p.T436T,TACC1:NM_001352790:exon7:c.C1308T:p.T436T,TACC1:NM_001352791:exon7:c.C1308T:p.T436T,TACC1:NM_001352793:exon7:c.C1308T:p.T436T,TACC1:NM_001352795:exon7:c.C1221T:p.T407T,TACC1:NM_001352796:exon7:c.C1221T:p.T407T,TACC1:NM_001352801:exon7:c.C612T:p.T204T,TACC1:NM_001146216:exon8:c.C1308T:p.T436T,TACC1:NM_001330521:exon8:c.C1221T:p.T407T,TACC1:NM_001352782:exon8:c.C1809T:p.T603T,TACC1:NM_001352783:exon8:c.C1806T:p.T602T,TACC1:NM_001352784:exon8:c.C1722T:p.T574T,TACC1:NM_001352792:exon8:c.C1305T:p.T435T,TACC1:NM_001352794:exon8:c.C1308T:p.T436T,TACC1:NM_001352798:exon8:c.C1221T:p.T407T,TACC1:NM_001352799:exon8:c.C1221T:p.T407T,TACC1:NM_006283:exon8:c.C1893T:p.T631T,TACC1:NM_001352779:exon9:c.C1929T:p.T643T,TACC1:NM_001352781:exon9:c.C1842T:p.T614T,TACC1:NM_001352785:exon9:c.C1698T:p.T566T,TACC1:NM_001352787:exon9:c.C1785T:p.T595T,TACC1:NM_001352788:exon9:c.C1344T:p.T448T,TACC1:NM_001352797:exon9:c.C1221T:p.T407T,TACC1:NM_001352778:exon10:c.C1941T:p.T647T,TACC1:NM_001352780:exon10:c.C1854T:p.T618T,TACC1:NM_001352786:exon10:c.C1671T:p.T557T",NA,NA,NA,NA,NA,NA
chr8,41122907,41122907,C,T,R010_S,SFRP1,Missense_Mutation,NM_003012,exon3,c.G724A,p.D242N,SNP,SNVindel,exonic,SFRP1,NA,nonsynonymous SNV,SFRP1:NM_003012:exon3:c.G724A:p.D242N,D,N,D,T,D,T
chr8,41399345,41399345,G,A,R010_S,GINS4,Missense_Mutation,NM_032336,exon7,c.G502A,p.D168N,SNP,SNVindel,exonic,GINS4,NA,nonsynonymous SNV,GINS4:NM_032336:exon7:c.G502A:p.D168N,T,N,D,.,N,T
chr8,41552204,41552204,G,A,R010_S,ANK1,Missense_Mutation,NM_000037,exon28,c.C3233T,p.P1078L,SNP,SNVindel,exonic,ANK1,NA,nonsynonymous SNV,"ANK1:NM_000037:exon28:c.C3233T:p.P1078L,ANK1:NM_020475:exon28:c.C3233T:p.P1078L,ANK1:NM_020476:exon28:c.C3233T:p.P1078L,ANK1:NM_020477:exon28:c.C3233T:p.P1078L,ANK1:NM_001142446:exon29:c.C3356T:p.P1119L",D,D,D,T,D,T
chr8,42196203,42196203,G,A,R010_S,POLB,Missense_Mutation,NM_002690,exon1,c.G61A,p.E21K,SNP,SNVindel,exonic,POLB,NA,nonsynonymous SNV,POLB:NM_002690:exon1:c.G61A:p.E21K,T,D,D,T,D,T
chr8,42940399,42940399,G,A,R010_S,FNTA,Missense_Mutation,NM_002027,exon9,c.G1114A,p.D372N,SNP,SNVindel,exonic,FNTA,NA,nonsynonymous SNV,FNTA:NM_002027:exon9:c.G1114A:p.D372N,T,N,N,.,N,T
chr8,48739399,48739399,G,A,R010_S,PRKDC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PRKDC,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr8,52321712,52321712,G,A,R010_S,PXDNL,Silent,NM_144651,exon17,c.C2472T,p.A824A,SNP,SNVindel,exonic,PXDNL,NA,synonymous SNV,PXDNL:NM_144651:exon17:c.C2472T:p.A824A,NA,NA,NA,NA,NA,NA
chr8,52366102,52366102,G,A,R010_S,PXDNL,Missense_Mutation,NM_144651,exon10,c.C1226T,p.A409V,SNP,SNVindel,exonic,PXDNL,NA,nonsynonymous SNV,PXDNL:NM_144651:exon10:c.C1226T:p.A409V,T,.,N,T,N,T
chr8,56663557,56663557,C,T,R010_S,TMEM68,Missense_Mutation,NM_001286661,exon3,c.G311A,p.R104K,SNP,SNVindel,exonic,TMEM68,NA,nonsynonymous SNV,"TMEM68:NM_001286661:exon3:c.G311A:p.R104K,TMEM68:NM_001363177:exon4:c.G311A:p.R104K,TMEM68:NM_001286657:exon5:c.G653A:p.R218K,TMEM68:NM_001363176:exon5:c.G653A:p.R218K,TMEM68:NM_152417:exon5:c.G653A:p.R218K",T,N,N,D,N,T
chr8,61750706,61750706,G,A,R010_S,CHD7,Silent,NM_017780,exon19,c.G4425A,p.E1475E,SNP,SNVindel,exonic,CHD7,NA,synonymous SNV,CHD7:NM_017780:exon19:c.G4425A:p.E1475E,NA,NA,NA,NA,NA,NA
chr8,67710827,67710827,G,A,R010_S,C8orf44-SGK3,Silent,NM_001033578,exon3,c.G147A,p.R49R,SNP,SNVindel,exonic,C8orf44-SGK3;SGK3,NA,synonymous SNV,"SGK3:NM_001033578:exon3:c.G147A:p.R49R,SGK3:NM_013257:exon3:c.G147A:p.R49R,SGK3:NM_170709:exon3:c.G147A:p.R49R,C8orf44-SGK3:NM_001204173:exon5:c.G147A:p.R49R",NA,NA,NA,NA,NA,NA
chr8,68123756,68123756,G,A,R010_S,ARFGEF1,Missense_Mutation,NM_006421,exon34,c.C4781T,p.A1594V,SNP,SNVindel,exonic,ARFGEF1,NA,nonsynonymous SNV,ARFGEF1:NM_006421:exon34:c.C4781T:p.A1594V,T,N,N,T,N,T
chr8,69400263,69400263,G,A,R010_S,C8orf34,Missense_Mutation,NM_001349478,exon4,c.G613A,p.A205T,SNP,SNVindel,exonic,C8orf34,NA,nonsynonymous SNV,"C8orf34:NM_001349478:exon4:c.G613A:p.A205T,C8orf34:NM_001349479:exon4:c.G613A:p.A205T,C8orf34:NM_001349480:exon4:c.G613A:p.A205T,C8orf34:NM_001195639:exon5:c.G742A:p.A248T,C8orf34:NM_001349476:exon5:c.G742A:p.A248T,C8orf34:NM_001349477:exon5:c.G742A:p.A248T,C8orf34:NM_052958:exon5:c.G742A:p.A248T",D,D,D,T,N,T
chr8,70488362,70488362,G,A,R010_S,SULF1,Silent,NM_001128204,exon5,c.G330A,p.E110E,SNP,SNVindel,exonic,SULF1,NA,synonymous SNV,"SULF1:NM_001128204:exon5:c.G330A:p.E110E,SULF1:NM_001128206:exon5:c.G330A:p.E110E,SULF1:NM_001128205:exon6:c.G330A:p.E110E,SULF1:NM_015170:exon6:c.G330A:p.E110E",NA,NA,NA,NA,NA,NA
chr8,70981789,70981789,G,A,R010_S,PRDM14,Missense_Mutation,NM_024504,exon2,c.C307T,p.P103S,SNP,SNVindel,exonic,PRDM14,NA,nonsynonymous SNV,PRDM14:NM_024504:exon2:c.C307T:p.P103S,T,N,N,T,N,T
chr8,73993443,73993443,G,A,R010_S,SBSPON,Missense_Mutation,NM_153225,exon2,c.C220T,p.P74S,SNP,SNVindel,exonic,SBSPON,NA,nonsynonymous SNV,SBSPON:NM_153225:exon2:c.C220T:p.P74S,T,N,D,T,N,T
chr8,74891055,74891055,G,A,R010_S,TMEM70,Missense_Mutation,NM_001040613,exon2,c.G275A,p.G92E,SNP,SNVindel,exonic,TMEM70,NA,nonsynonymous SNV,"TMEM70:NM_001040613:exon2:c.G275A:p.G92E,TMEM70:NM_017866:exon2:c.G275A:p.G92E",D,D,D,T,D,T
chr8,75233185,75233185,C,T,R010_S,JPH1,Missense_Mutation,NM_001317830,exon1,c.G338A,p.G113E,SNP,SNVindel,exonic,JPH1,NA,nonsynonymous SNV,"JPH1:NM_001317830:exon1:c.G338A:p.G113E,JPH1:NM_001363050:exon1:c.G338A:p.G113E,JPH1:NM_001363051:exon1:c.G338A:p.G113E,JPH1:NM_020647:exon1:c.G338A:p.G113E",D,D,D,T,D,T
chr8,77616402,77616402,C,T,R010_S,ZFHX4,Missense_Mutation,NM_024721,exon2,c.C79T,p.L27F,SNP,SNVindel,exonic,ZFHX4,NA,nonsynonymous SNV,ZFHX4:NM_024721:exon2:c.C79T:p.L27F,D,U,D,T,N,T
chr8,77768381,77768381,G,A,R010_S,ZFHX4,Missense_Mutation,NM_024721,exon10,c.G9224A,p.G3075D,SNP,SNVindel,exonic,ZFHX4,NA,nonsynonymous SNV,ZFHX4:NM_024721:exon10:c.G9224A:p.G3075D,D,U,D,T,D,T
chr8,81431116,81431116,G,A,R010_S,ZBTB10,Missense_Mutation,NM_001105539,exon5,c.G2237A,p.G746E,SNP,SNVindel,exonic,ZBTB10,NA,nonsynonymous SNV,"ZBTB10:NM_001105539:exon5:c.G2237A:p.G746E,ZBTB10:NM_001277145:exon5:c.G1361A:p.G454E,ZBTB10:NM_023929:exon6:c.G2165A:p.G722E",D,D,D,T,D,T
chr8,82583266,82583266,G,A,R010_S,IMPA1,Silent,NM_005536,exon7,c.C474T,p.L158L,SNP,SNVindel,exonic,IMPA1,NA,synonymous SNV,"IMPA1:NM_005536:exon7:c.C474T:p.L158L,IMPA1:NM_001144878:exon8:c.C651T:p.L217L",NA,NA,NA,NA,NA,NA
chr8,87424022,87424022,C,T,R010_S,WWP1,Missense_Mutation,NM_007013,exon9,c.C980T,p.A327V,SNP,SNVindel,exonic,WWP1,NA,nonsynonymous SNV,WWP1:NM_007013:exon9:c.C980T:p.A327V,D,N,D,T,N,T
chr8,87443655,87443655,G,A,R010_S,WWP1,Missense_Mutation,NM_007013,exon13,c.G1408A,p.D470N,SNP,SNVindel,exonic,WWP1,NA,nonsynonymous SNV,WWP1:NM_007013:exon13:c.G1408A:p.D470N,T,D,D,D,N,T
chr8,94934278,94934278,C,T,R010_S,PDP1,Silent,NM_001161779,exon3,c.C66T,p.F22F,SNP,SNVindel,exonic,PDP1,NA,synonymous SNV,"PDP1:NM_001161779:exon3:c.C66T:p.F22F,PDP1:NM_001161780:exon3:c.C66T:p.F22F",NA,NA,NA,NA,NA,NA
chr8,95390825,95390825,G,A,R010_S,RAD54B,Missense_Mutation,NM_001205263,exon11,c.C1733T,p.P578L,SNP,SNVindel,exonic,RAD54B,NA,nonsynonymous SNV,"RAD54B:NM_001205263:exon11:c.C1733T:p.P578L,RAD54B:NM_012415:exon13:c.C2285T:p.P762L",T,N,D,T,D,T
chr8,95539273,95539273,C,T,R010_S,VIRMA,Nonsense_Mutation,NM_015496,exon8,c.G1199A,p.W400X,SNP,SNVindel,exonic,VIRMA,NA,stopgain,"VIRMA:NM_015496:exon8:c.G1199A:p.W400X,VIRMA:NM_183009:exon8:c.G1199A:p.W400X",.,D,A,.,.,.
chr8,95543269,95543269,G,A,R010_S,VIRMA,Missense_Mutation,NM_015496,exon6,c.C529T,p.P177S,SNP,SNVindel,exonic,VIRMA,NA,nonsynonymous SNV,"VIRMA:NM_015496:exon6:c.C529T:p.P177S,VIRMA:NM_183009:exon6:c.C529T:p.P177S",D,D,D,T,N,T
chr8,95683791,95683791,C,T,R010_S,ESRP1,Silent,NM_001034915,exon11,c.C1344T,p.R448R,SNP,SNVindel,exonic,ESRP1,NA,synonymous SNV,"ESRP1:NM_001034915:exon11:c.C1344T:p.R448R,ESRP1:NM_001122825:exon11:c.C1344T:p.R448R,ESRP1:NM_001122826:exon11:c.C1344T:p.R448R,ESRP1:NM_001122827:exon11:c.C1344T:p.R448R,ESRP1:NM_017697:exon11:c.C1344T:p.R448R",NA,NA,NA,NA,NA,NA
chr8,95894472,95894472,G,A,R010_S,CCNE2,Missense_Mutation,NM_057749,exon11,c.C989T,p.P330L,SNP,SNVindel,exonic,CCNE2,NA,nonsynonymous SNV,CCNE2:NM_057749:exon11:c.C989T:p.P330L,D,D,D,T,D,T
chr8,97342455,97342455,C,T,R010_S,PTDSS1,Silent,NM_001290225,exon9,c.C750T,p.F250F,SNP,SNVindel,exonic,PTDSS1,NA,synonymous SNV,"PTDSS1:NM_001290225:exon9:c.C750T:p.F250F,PTDSS1:NM_014754:exon11:c.C1188T:p.F396F",NA,NA,NA,NA,NA,NA
chr8,99148840,99148840,G,A,R010_S,POP1,Missense_Mutation,NM_001145860,exon8,c.G1142A,p.G381D,SNP,SNVindel,exonic,POP1,NA,nonsynonymous SNV,"POP1:NM_001145860:exon8:c.G1142A:p.G381D,POP1:NM_001145861:exon8:c.G1142A:p.G381D,POP1:NM_015029:exon8:c.G1142A:p.G381D",D,D,D,T,N,T
chr8,100711966,100711966,G,A,R010_S,VPS13B,Missense_Mutation,NM_017890,exon36,c.G6335A,p.G2112D,SNP,SNVindel,exonic,VPS13B,NA,nonsynonymous SNV,"VPS13B:NM_017890:exon36:c.G6335A:p.G2112D,VPS13B:NM_152564:exon36:c.G6260A:p.G2087D",T,N,N,T,N,T
chr8,100871621,100871621,C,T,R010_S,VPS13B,Missense_Mutation,NM_017890,exon57,c.C11032T,p.P3678S,SNP,SNVindel,exonic,VPS13B,NA,nonsynonymous SNV,"VPS13B:NM_017890:exon57:c.C11032T:p.P3678S,VPS13B:NM_152564:exon57:c.C10957T:p.P3653S",D,D,D,D,D,D
chr8,101016173,101016173,G,A,R010_S,RGS22,Missense_Mutation,NM_001286693,exon15,c.C2065T,p.L689F,SNP,SNVindel,exonic,RGS22,NA,nonsynonymous SNV,"RGS22:NM_001286693:exon15:c.C2065T:p.L689F,RGS22:NM_001286692:exon17:c.C2572T:p.L858F,RGS22:NM_015668:exon17:c.C2608T:p.L870F",D,D,D,T,D,T
chr8,101074914,101074914,G,A,R010_S,RGS22,Silent,NM_001286693,exon7,c.C876T,p.I292I,SNP,SNVindel,exonic,RGS22,NA,synonymous SNV,"RGS22:NM_001286693:exon7:c.C876T:p.I292I,RGS22:NM_001286692:exon9:c.C1383T:p.I461I,RGS22:NM_015668:exon9:c.C1419T:p.I473I",NA,NA,NA,NA,NA,NA
chr8,101146222,101146222,G,A,R010_S,FBXO43,Silent,NM_001029860,exon5,c.C1935T,p.S645S,SNP,SNVindel,exonic,FBXO43,NA,synonymous SNV,FBXO43:NM_001029860:exon5:c.C1935T:p.S645S,NA,NA,NA,NA,NA,NA
chr8,101149797,101149797,G,A,R010_S,FBXO43,Missense_Mutation,NM_001029860,exon3,c.C1670T,p.S557F,SNP,SNVindel,exonic,FBXO43,NA,nonsynonymous SNV,FBXO43:NM_001029860:exon3:c.C1670T:p.S557F,D,N,N,T,D,T
chr8,101730044,101730044,C,T,R010_S,PABPC1,Missense_Mutation,NM_002568,exon3,c.G460A,p.A154T,SNP,SNVindel,exonic,PABPC1,NA,nonsynonymous SNV,PABPC1:NM_002568:exon3:c.G460A:p.A154T,D,D,D,T,D,D
chr8,102564960,102564960,G,A,R010_S,GRHL2,Silent,NM_001330593,exon3,c.G186A,p.R62R,SNP,SNVindel,exonic,GRHL2,NA,synonymous SNV,"GRHL2:NM_001330593:exon3:c.G186A:p.R62R,GRHL2:NM_024915:exon3:c.G234A:p.R78R",NA,NA,NA,NA,NA,NA
chr8,103372857,103372857,G,A,R010_S,UBR5,Missense_Mutation,NM_001282873,exon4,c.C226T,p.P76S,SNP,SNVindel,exonic,UBR5,NA,nonsynonymous SNV,"UBR5:NM_001282873:exon4:c.C226T:p.P76S,UBR5:NM_015902:exon4:c.C226T:p.P76S",T,D,D,T,N,T
chr8,103663527,103663527,C,T,R010_S,KLF10,Missense_Mutation,NM_001032282,exon3,c.G1000A,p.A334T,SNP,SNVindel,exonic,KLF10,NA,nonsynonymous SNV,"KLF10:NM_001032282:exon3:c.G1000A:p.A334T,KLF10:NM_005655:exon3:c.G1033A:p.A345T",D,D,D,T,D,T
chr8,106811053,106811053,G,A,R010_S,ZFPM2,Missense_Mutation,NM_001362836,exon6,c.G682A,p.A228T,SNP,SNVindel,exonic,ZFPM2,NA,nonsynonymous SNV,"ZFPM2:NM_001362836:exon6:c.G682A:p.A228T,ZFPM2:NM_001362837:exon7:c.G445A:p.A149T,ZFPM2:NM_012082:exon7:c.G841A:p.A281T",T,N,N,T,N,T
chr8,107531189,107531189,G,A,R010_S,OXR1,Silent,NM_001198532,exon2,c.G45A,p.Q15Q,SNP,SNVindel,exonic,OXR1,NA,synonymous SNV,"OXR1:NM_001198532:exon2:c.G45A:p.Q15Q,OXR1:NM_001198533:exon3:c.G42A:p.Q14Q,OXR1:NM_018002:exon3:c.G42A:p.Q14Q",NA,NA,NA,NA,NA,NA
chr8,110283347,110283347,C,T,R010_S,NUDCD1,Missense_Mutation,NM_001128211,exon8,c.G1099A,p.D367N,SNP,SNVindel,exonic,NUDCD1,NA,nonsynonymous SNV,"NUDCD1:NM_001128211:exon8:c.G1099A:p.D367N,NUDCD1:NM_032869:exon8:c.G1186A:p.D396N",T,N,D,T,N,T
chr8,110588015,110588015,G,A,R010_S,SYBU,Missense_Mutation,NM_001330596,exon5,c.C722T,p.S241F,SNP,SNVindel,exonic,SYBU,NA,nonsynonymous SNV,"SYBU:NM_001330596:exon5:c.C722T:p.S241F,SYBU:NM_001363032:exon5:c.C623T:p.S208F,SYBU:NM_001099746:exon6:c.C755T:p.S252F,SYBU:NM_001099749:exon6:c.C755T:p.S252F,SYBU:NM_001099755:exon6:c.C755T:p.S252F,SYBU:NM_001099756:exon6:c.C1103T:p.S368F,SYBU:NM_001099753:exon7:c.C1109T:p.S370F,SYBU:NM_001099754:exon7:c.C1112T:p.S371F,SYBU:NM_001099743:exon8:c.C1109T:p.S370F,SYBU:NM_001099744:exon8:c.C1112T:p.S371F,SYBU:NM_001099745:exon8:c.C1112T:p.S371F,SYBU:NM_001099747:exon8:c.C1109T:p.S370F,SYBU:NM_001099748:exon8:c.C1112T:p.S371F,SYBU:NM_001099751:exon8:c.C1109T:p.S370F,SYBU:NM_001099752:exon8:c.C1112T:p.S371F,SYBU:NM_001099750:exon9:c.C1112T:p.S371F,SYBU:NM_017786:exon9:c.C1109T:p.S370F",D,D,D,.,D,T
chr8,113267620,113267620,C,T,R010_S,CSMD3,Missense_Mutation,NM_001363185,exon58,c.G9299A,p.G3100E,SNP,SNVindel,exonic,CSMD3,NA,nonsynonymous SNV,"CSMD3:NM_001363185:exon58:c.G9299A:p.G3100E,CSMD3:NM_052900:exon60:c.G9392A:p.G3131E,CSMD3:NM_198123:exon62:c.G9899A:p.G3300E,CSMD3:NM_198124:exon63:c.G9779A:p.G3260E",D,D,D,T,D,D
chr8,113697706,113697706,C,T,R010_S,CSMD3,Missense_Mutation,NM_001363185,exon13,c.G2021A,p.S674N,SNP,SNVindel,exonic,CSMD3,NA,nonsynonymous SNV,"CSMD3:NM_001363185:exon13:c.G2021A:p.S674N,CSMD3:NM_052900:exon14:c.G2099A:p.S700N,CSMD3:NM_198123:exon15:c.G2411A:p.S804N,CSMD3:NM_198124:exon16:c.G2291A:p.S764N",D,D,D,T,N,T
chr8,116427180,116427180,C,T,R010_S,TRPS1,Missense_Mutation,NM_001282902,exon6,c.G2929A,p.E977K,SNP,SNVindel,exonic,TRPS1,NA,nonsynonymous SNV,"TRPS1:NM_001282902:exon6:c.G2929A:p.E977K,TRPS1:NM_001330599:exon6:c.G2917A:p.E973K,TRPS1:NM_001282903:exon7:c.G2935A:p.E979K,TRPS1:NM_014112:exon7:c.G2956A:p.E986K",D,D,D,D,N,T
chr8,116599429,116599429,G,A,R010_S,TRPS1,Silent,NM_001282902,exon4,c.C2472T,p.T824T,SNP,SNVindel,exonic,TRPS1,NA,synonymous SNV,"TRPS1:NM_001282902:exon4:c.C2472T:p.T824T,TRPS1:NM_001330599:exon4:c.C2460T:p.T820T,TRPS1:NM_001282903:exon5:c.C2478T:p.T826T,TRPS1:NM_014112:exon5:c.C2499T:p.T833T",NA,NA,NA,NA,NA,NA
chr8,117859817,117859817,C,T,R010_S,RAD21,Silent,NM_006265,exon14,c.G1818A,p.Q606Q,SNP,SNVindel,exonic,RAD21,NA,synonymous SNV,RAD21:NM_006265:exon14:c.G1818A:p.Q606Q,NA,NA,NA,NA,NA,NA
chr8,119936857,119936857,G,A,R010_S,TNFRSF11B,Missense_Mutation,NM_002546,exon5,c.C962T,p.P321L,SNP,SNVindel,exonic,TNFRSF11B,NA,nonsynonymous SNV,TNFRSF11B:NM_002546:exon5:c.C962T:p.P321L,T,U,N,D,N,T
chr8,120768320,120768320,G,A,R010_S,TAF2,Missense_Mutation,NM_003184,exon22,c.C2804T,p.P935L,SNP,SNVindel,exonic,TAF2,NA,nonsynonymous SNV,TAF2:NM_003184:exon22:c.C2804T:p.P935L,D,D,D,T,D,T
chr8,121174721,121174721,G,A,R010_S,COL14A1,Missense_Mutation,NM_021110,exon4,c.G262A,p.G88S,SNP,SNVindel,exonic,COL14A1,NA,nonsynonymous SNV,COL14A1:NM_021110:exon4:c.G262A:p.G88S,D,D,D,T,N,T
chr8,121219187,121219187,G,A,R010_S,COL14A1,Missense_Mutation,NM_021110,exon10,c.G1045A,p.A349T,SNP,SNVindel,exonic,COL14A1,NA,nonsynonymous SNV,COL14A1:NM_021110:exon10:c.G1045A:p.A349T,T,N,N,D,N,T
chr8,121823723,121823723,C,T,R010_S,SNTB1,Missense_Mutation,NM_021021,exon1,c.G361A,p.G121S,SNP,SNVindel,exonic,SNTB1,NA,nonsynonymous SNV,SNTB1:NM_021021:exon1:c.G361A:p.G121S,D,D,D,T,D,T
chr8,124105860,124105860,C,T,R010_S,TBC1D31,Silent,NM_001330606,exon4,c.C234T,p.I78I,SNP,SNVindel,exonic,TBC1D31,NA,synonymous SNV,"TBC1D31:NM_001330606:exon4:c.C234T:p.I78I,TBC1D31:NM_001363152:exon4:c.C234T:p.I78I,TBC1D31:NM_001363154:exon4:c.C234T:p.I78I,TBC1D31:NM_001363155:exon4:c.C234T:p.I78I,TBC1D31:NM_001145088:exon5:c.C549T:p.I183I,TBC1D31:NM_001363148:exon5:c.C549T:p.I183I,TBC1D31:NM_001363149:exon5:c.C519T:p.I173I,TBC1D31:NM_001363150:exon5:c.C549T:p.I183I,TBC1D31:NM_001363151:exon5:c.C549T:p.I183I,TBC1D31:NM_001363153:exon5:c.C549T:p.I183I,TBC1D31:NM_145647:exon5:c.C549T:p.I183I",NA,NA,NA,NA,NA,NA
chr8,124268108,124268108,C,T,R010_S,ZHX1,Missense_Mutation,NM_001017926,exon3,c.G79A,p.D27N,SNP,SNVindel,exonic,ZHX1,NA,nonsynonymous SNV,"ZHX1:NM_001017926:exon3:c.G79A:p.D27N,ZHX1:NM_007222:exon3:c.G79A:p.D27N",T,N,D,T,N,T
chr8,125384128,125384128,G,A,R010_S,TMEM65,Silent,NM_194291,exon1,c.C271T,p.L91L,SNP,SNVindel,exonic,TMEM65,NA,synonymous SNV,TMEM65:NM_194291:exon1:c.C271T:p.L91L,NA,NA,NA,NA,NA,NA
chr8,125463310,125463310,C,T,R010_S,TRMT12,Missense_Mutation,NM_017956,exon1,c.C142T,p.R48C,SNP,SNVindel,exonic,TRMT12,NA,nonsynonymous SNV,TRMT12:NM_017956:exon1:c.C142T:p.R48C,D,N,D,T,D,T
chr8,126021314,126021314,C,T,R010_S,SQLE,Silent,NM_003129,exon5,c.C924T,p.G308G,SNP,SNVindel,exonic,SQLE,NA,synonymous SNV,SQLE:NM_003129:exon5:c.C924T:p.G308G,NA,NA,NA,NA,NA,NA
chr8,126030346,126030346,C,T,R010_S,SQLE,Missense_Mutation,NM_003129,exon8,c.C1250T,p.T417I,SNP,SNVindel,exonic,SQLE,NA,nonsynonymous SNV,SQLE:NM_003129:exon8:c.C1250T:p.T417I,D,D,D,T,D,T
chr8,126448548,126448548,C,T,R010_S,TRIB1,Silent,NM_001282985,exon3,c.C456T,p.L152L,SNP,SNVindel,exonic,TRIB1,NA,synonymous SNV,"TRIB1:NM_001282985:exon3:c.C456T:p.L152L,TRIB1:NM_025195:exon3:c.C954T:p.L318L",NA,NA,NA,NA,NA,NA
chr8,127568948,127568948,C,T,R010_S,LRATD2,Silent,NM_174911,exon2,c.G687A,p.R229R,SNP,SNVindel,exonic,LRATD2,NA,synonymous SNV,LRATD2:NM_174911:exon2:c.G687A:p.R229R,NA,NA,NA,NA,NA,NA
chr8,131880120,131880120,C,T,R010_S,ADCY8,Missense_Mutation,NM_001115,exon9,c.G2182A,p.A728T,SNP,SNVindel,exonic,ADCY8,NA,nonsynonymous SNV,ADCY8:NM_001115:exon9:c.G2182A:p.A728T,T,D,D,T,N,T
chr8,133152373,133152373,G,A,R010_S,KCNQ3,Silent,NM_001204824,exon11,c.C1158T,p.F386F,SNP,SNVindel,exonic,KCNQ3,NA,synonymous SNV,"KCNQ3:NM_001204824:exon11:c.C1158T:p.F386F,KCNQ3:NM_004519:exon11:c.C1518T:p.F506F",NA,NA,NA,NA,NA,NA
chr8,134237733,134237733,G,A,R010_S,CCN4,Silent,NM_080838,exon3,c.G450A,p.R150R,SNP,SNVindel,exonic,CCN4,NA,synonymous SNV,"CCN4:NM_080838:exon3:c.G450A:p.R150R,CCN4:NM_003882:exon4:c.G711A:p.R237R",NA,NA,NA,NA,NA,NA
chr8,134260135,134260135,G,A,R010_S,NDRG1,Missense_Mutation,NM_001258432,exon10,c.C592T,p.P198S,SNP,SNVindel,exonic,NDRG1,NA,nonsynonymous SNV,"NDRG1:NM_001258432:exon10:c.C592T:p.P198S,NDRG1:NM_001258433:exon11:c.C547T:p.P183S,NDRG1:NM_001135242:exon12:c.C790T:p.P264S,NDRG1:NM_006096:exon12:c.C790T:p.P264S",D,D,D,T,D,T
chr8,134276895,134276895,C,T,R010_S,NDRG1,Missense_Mutation,NM_001135242,exon4,c.G100A,p.E34K,SNP,SNVindel,exonic,NDRG1,NA,nonsynonymous SNV,"NDRG1:NM_001135242:exon4:c.G100A:p.E34K,NDRG1:NM_006096:exon4:c.G100A:p.E34K",D,D,D,T,D,T
chr8,135613867,135613867,G,A,R010_S,ZFAT,Missense_Mutation,NM_001174157,exon5,c.C1909T,p.P637S,SNP,SNVindel,exonic,ZFAT,NA,nonsynonymous SNV,"ZFAT:NM_001174157:exon5:c.C1909T:p.P637S,ZFAT:NM_001167583:exon6:c.C2059T:p.P687S,ZFAT:NM_001174158:exon6:c.C2059T:p.P687S,ZFAT:NM_020863:exon6:c.C2095T:p.P699S,ZFAT:NM_001029939:exon7:c.C2059T:p.P687S,ZFAT:NM_001289394:exon7:c.C2059T:p.P687S",T,N,N,T,N,T
chr8,136561035,136561035,C,T,R010_S,KHDRBS3,Silent,NM_006558,exon4,c.C363T,p.F121F,SNP,SNVindel,exonic,KHDRBS3,NA,synonymous SNV,KHDRBS3:NM_006558:exon4:c.C363T:p.F121F,NA,NA,NA,NA,NA,NA
chr8,139165085,139165085,C,T,R010_S,FAM135B,Missense_Mutation,NM_001362965,exon13,c.G1633A,p.D545N,SNP,SNVindel,exonic,FAM135B,NA,nonsynonymous SNV,"FAM135B:NM_001362965:exon13:c.G1633A:p.D545N,FAM135B:NM_015912:exon13:c.G1633A:p.D545N",T,N,N,T,N,T
chr8,139631724,139631724,C,T,R010_S,COL22A1,Missense_Mutation,NM_152888,exon53,c.G3799A,p.G1267R,SNP,SNVindel,exonic,COL22A1,NA,nonsynonymous SNV,COL22A1:NM_152888:exon53:c.G3799A:p.G1267R,D,D,D,D,D,D
chr8,139772525,139772525,C,T,R010_S,COL22A1,Silent,NM_152888,exon18,c.G1863A,p.R621R,SNP,SNVindel,exonic,COL22A1,NA,synonymous SNV,COL22A1:NM_152888:exon18:c.G1863A:p.R621R,NA,NA,NA,NA,NA,NA
chr8,140744393,140744393,C,T,R010_S,TRAPPC9,Silent,NM_001321646,exon21,c.G3081A,p.Q1027Q,SNP,SNVindel,exonic,TRAPPC9,NA,synonymous SNV,"TRAPPC9:NM_001321646:exon21:c.G3081A:p.Q1027Q,TRAPPC9:NM_001160372:exon22:c.G3108A:p.Q1036Q,TRAPPC9:NM_031466:exon22:c.G3402A:p.Q1134Q",NA,NA,NA,NA,NA,NA
chr8,142161856,142161856,G,A,R010_S,DENND3,Missense_Mutation,NM_001352890,exon7,c.G994A,p.D332N,SNP,SNVindel,exonic,DENND3,NA,nonsynonymous SNV,"DENND3:NM_001352890:exon7:c.G994A:p.D332N,DENND3:NM_001362798:exon7:c.G994A:p.D332N,DENND3:NM_014957:exon7:c.G793A:p.D265N",T,N,N,T,N,T
chr8,142175287,142175287,C,T,R010_S,DENND3,Silent,NM_001352890,exon11,c.C1452T,p.V484V,SNP,SNVindel,exonic,DENND3,NA,synonymous SNV,"DENND3:NM_001352890:exon11:c.C1452T:p.V484V,DENND3:NM_001362798:exon11:c.C1452T:p.V484V,DENND3:NM_014957:exon11:c.C1251T:p.V417V",NA,NA,NA,NA,NA,NA
chr8,142200464,142200464,G,A,R010_S,DENND3,Silent,NM_001352890,exon20,c.G3327A,p.L1109L,SNP,SNVindel,exonic,DENND3,NA,synonymous SNV,"DENND3:NM_001352890:exon20:c.G3327A:p.L1109L,DENND3:NM_001362798:exon20:c.G3327A:p.L1109L,DENND3:NM_014957:exon20:c.G3126A:p.L1042L",NA,NA,NA,NA,NA,NA
chr8,143546032,143546032,C,T,R010_S,ADGRB1,Missense_Mutation,NM_001702,exon2,c.C473T,p.P158L,SNP,SNVindel,exonic,ADGRB1,NA,nonsynonymous SNV,ADGRB1:NM_001702:exon2:c.C473T:p.P158L,T,N,N,T,N,T
chr8,143546090,143546090,G,A,R010_S,ADGRB1,Silent,NM_001702,exon2,c.G531A,p.G177G,SNP,SNVindel,exonic,ADGRB1,NA,synonymous SNV,ADGRB1:NM_001702:exon2:c.G531A:p.G177G,NA,NA,NA,NA,NA,NA
chr8,143592313,143592313,C,T,R010_S,ADGRB1,Missense_Mutation,NM_001702,exon18,c.C2696T,p.P899L,SNP,SNVindel,exonic,ADGRB1,NA,nonsynonymous SNV,ADGRB1:NM_001702:exon18:c.C2696T:p.P899L,T,U,D,T,N,T
chr8,143746054,143746054,G,A,R010_S,JRK,Silent,NM_001077527,exon3,c.C1422T,p.D474D,SNP,SNVindel,exonic,JRK,NA,synonymous SNV,"JRK:NM_001077527:exon3:c.C1422T:p.D474D,JRK:NM_001279352:exon3:c.C1422T:p.D474D,JRK:NM_003724:exon3:c.C1422T:p.D474D",NA,NA,NA,NA,NA,NA
chr8,143994852,143994852,G,A,R010_S,CYP11B2,Silent,NM_000498,exon6,c.C970T,p.L324L,SNP,SNVindel,exonic,CYP11B2,NA,synonymous SNV,CYP11B2:NM_000498:exon6:c.C970T:p.L324L,NA,NA,NA,NA,NA,NA
chr8,144378321,144378321,G,A,R010_S,ZNF696,Missense_Mutation,NM_030895,exon3,c.G476A,p.G159E,SNP,SNVindel,exonic,ZNF696,NA,nonsynonymous SNV,ZNF696:NM_030895:exon3:c.G476A:p.G159E,D,.,N,T,D,T
chr8,144522284,144522284,G,A,R010_S,ZC3H3,Silent,NM_015117,exon11,c.C2742T,p.S914S,SNP,SNVindel,exonic,ZC3H3,NA,synonymous SNV,ZC3H3:NM_015117:exon11:c.C2742T:p.S914S,NA,NA,NA,NA,NA,NA
chr8,144547971,144547971,G,A,R010_S,ZC3H3,Silent,NM_015117,exon9,c.C2223T,p.N741N,SNP,SNVindel,exonic,ZC3H3,NA,synonymous SNV,ZC3H3:NM_015117:exon9:c.C2223T:p.N741N,NA,NA,NA,NA,NA,NA
chr8,144644409,144644409,G,A,R010_S,GSDMD,Missense_Mutation,NM_024736,exon9,c.G1027A,p.E343K,SNP,SNVindel,exonic,GSDMD,NA,nonsynonymous SNV,"GSDMD:NM_024736:exon9:c.G1027A:p.E343K,GSDMD:NM_001166237:exon12:c.G1027A:p.E343K",T,N,N,T,N,T
chr8,144671662,144671662,G,A,R010_S,EEF1D,Missense_Mutation,NM_001130053,exon3,c.C590T,p.P197L,SNP,SNVindel,exonic,EEF1D,NA,nonsynonymous SNV,"EEF1D:NM_001130053:exon3:c.C590T:p.P197L,EEF1D:NM_032378:exon3:c.C590T:p.P197L",D,N,N,.,N,T
chr8,144680285,144680285,G,A,R010_S,TIGD5,Missense_Mutation,NM_032862,exon1,c.G212A,p.G71D,SNP,SNVindel,exonic,TIGD5,NA,nonsynonymous SNV,TIGD5:NM_032862:exon1:c.G212A:p.G71D,D,U,N,T,D,T
chr8,144732344,144732344,G,A,R010_S,ZNF623,Missense_Mutation,NM_014789,exon1,c.G302A,p.G101E,SNP,SNVindel,exonic,ZNF623,NA,nonsynonymous SNV,"ZNF623:NM_014789:exon1:c.G302A:p.G101E,ZNF623:NM_001082480:exon2:c.G182A:p.G61E,ZNF623:NM_001261843:exon2:c.G182A:p.G61E",T,.,N,T,D,T
chr8,144732572,144732572,G,A,R010_S,ZNF623,Missense_Mutation,NM_014789,exon1,c.G530A,p.R177K,SNP,SNVindel,exonic,ZNF623,NA,nonsynonymous SNV,"ZNF623:NM_014789:exon1:c.G530A:p.R177K,ZNF623:NM_001082480:exon2:c.G410A:p.R137K,ZNF623:NM_001261843:exon2:c.G410A:p.R137K",T,.,N,T,N,T
chr8,144775886,144775886,C,T,R010_S,ZNF707,Missense_Mutation,NM_001288808,exon4,c.C194T,p.A65V,SNP,SNVindel,exonic,ZNF707,NA,nonsynonymous SNV,"ZNF707:NM_001288808:exon4:c.C194T:p.A65V,ZNF707:NM_001288809:exon4:c.C194T:p.A65V,ZNF707:NM_001100599:exon5:c.C302T:p.A101V,ZNF707:NM_001100598:exon6:c.C302T:p.A101V,ZNF707:NM_001288806:exon6:c.C302T:p.A101V,ZNF707:NM_001288807:exon6:c.C83T:p.A28V,ZNF707:NM_173831:exon7:c.C302T:p.A101V,ZNF707:NM_001288805:exon8:c.C302T:p.A101V",T,.,N,T,N,T
chr8,144790128,144790128,C,T,R010_S,CCDC166,Missense_Mutation,NM_001162914,exon1,c.G152A,p.S51N,SNP,SNVindel,exonic,CCDC166,NA,nonsynonymous SNV,CCDC166:NM_001162914:exon1:c.G152A:p.S51N,D,.,N,.,N,T
chr8,144808954,144808954,G,A,R010_S,FAM83H,Missense_Mutation,NM_198488,exon5,c.C2677T,p.P893S,SNP,SNVindel,exonic,FAM83H,NA,nonsynonymous SNV,FAM83H:NM_198488:exon5:c.C2677T:p.P893S,D,N,N,T,N,T
chr8,144809471,144809471,C,T,R010_S,FAM83H,Silent,NM_198488,exon5,c.G2160A,p.G720G,SNP,SNVindel,exonic,FAM83H,NA,synonymous SNV,FAM83H:NM_198488:exon5:c.G2160A:p.G720G,NA,NA,NA,NA,NA,NA
chr8,144810615,144810615,C,T,R010_S,FAM83H,Missense_Mutation,NM_198488,exon5,c.G1016A,p.G339D,SNP,SNVindel,exonic,FAM83H,NA,nonsynonymous SNV,FAM83H:NM_198488:exon5:c.G1016A:p.G339D,D,N,N,T,N,T
chr8,145005785,145005785,G,A,R010_S,PLEC,Silent,NM_201378,exon19,c.C2179T,p.L727L,SNP,SNVindel,exonic,PLEC,NA,synonymous SNV,"PLEC:NM_201378:exon19:c.C2179T:p.L727L,PLEC:NM_201379:exon19:c.C2155T:p.L719L,PLEC:NM_201380:exon19:c.C2632T:p.L878L,PLEC:NM_201381:exon19:c.C2125T:p.L709L,PLEC:NM_201382:exon19:c.C2221T:p.L741L,PLEC:NM_201383:exon19:c.C2233T:p.L745L,PLEC:NM_201384:exon19:c.C2221T:p.L741L,PLEC:NM_000445:exon20:c.C2302T:p.L768L",NA,NA,NA,NA,NA,NA
chr8,145009397,145009397,G,A,R010_S,PLEC,Silent,NM_201378,exon7,c.C645T,p.D215D,SNP,SNVindel,exonic,PLEC,NA,synonymous SNV,"PLEC:NM_201378:exon7:c.C645T:p.D215D,PLEC:NM_201379:exon7:c.C621T:p.D207D,PLEC:NM_201380:exon7:c.C1098T:p.D366D,PLEC:NM_201381:exon7:c.C591T:p.D197D,PLEC:NM_201382:exon7:c.C687T:p.D229D,PLEC:NM_201383:exon7:c.C699T:p.D233D,PLEC:NM_201384:exon7:c.C687T:p.D229D,PLEC:NM_000445:exon8:c.C768T:p.D256D",NA,NA,NA,NA,NA,NA
chr8,145052220,145052220,C,T,R010_S,PARP10,Silent,NM_001317895,exon9,c.G2622A,p.Q874Q,SNP,SNVindel,exonic,PARP10,NA,synonymous SNV,"PARP10:NM_001317895:exon9:c.G2622A:p.Q874Q,PARP10:NM_032789:exon10:c.G2586A:p.Q862Q",NA,NA,NA,NA,NA,NA
chr8,145109780,145109780,C,T,R010_S,OPLAH,Missense_Mutation,NM_017570,exon18,c.G2446A,p.V816M,SNP,SNVindel,exonic,OPLAH,NA,nonsynonymous SNV,OPLAH:NM_017570:exon18:c.G2446A:p.V816M,.,D,.,.,.,T
chr8,145138760,145138760,C,T,R010_S,GPAA1,Silent,NM_003801,exon4,c.C510T,p.F170F,SNP,SNVindel,exonic,GPAA1,NA,synonymous SNV,GPAA1:NM_003801:exon4:c.C510T:p.F170F,NA,NA,NA,NA,NA,NA
chr8,145161464,145161464,C,T,R010_S,MAF1,Silent,NM_032272,exon6,c.C507T,p.N169N,SNP,SNVindel,exonic,MAF1,NA,synonymous SNV,MAF1:NM_032272:exon6:c.C507T:p.N169N,NA,NA,NA,NA,NA,NA
chr8,145166838,145166838,A,G,R010_S,WDR97,Missense_Mutation,NM_001316309,exon13,c.A2686G,p.R896G,SNP,SNVindel,exonic,WDR97,NA,nonsynonymous SNV,WDR97:NM_001316309:exon13:c.A2686G:p.R896G,D,.,N,T,N,T
chr8,145166844,145166844,G,A,R010_S,WDR97,Missense_Mutation,NM_001316309,exon13,c.G2692A,p.E898K,SNP,SNVindel,exonic,WDR97,NA,nonsynonymous SNV,WDR97:NM_001316309:exon13:c.G2692A:p.E898K,D,.,N,T,N,T
chr8,145583737,145583737,C,T,R010_S,SLC52A2,Silent,NM_001253815,exon3,c.C585T,p.T195T,SNP,SNVindel,exonic,SLC52A2,NA,synonymous SNV,"SLC52A2:NM_001253815:exon3:c.C585T:p.T195T,SLC52A2:NM_001253816:exon3:c.C585T:p.T195T,SLC52A2:NM_001363118:exon3:c.C585T:p.T195T,SLC52A2:NM_001363120:exon3:c.C585T:p.T195T,SLC52A2:NM_001363121:exon3:c.C585T:p.T195T,SLC52A2:NM_024531:exon3:c.C585T:p.T195T",NA,NA,NA,NA,NA,NA
chr8,145623202,145623202,G,A,R010_S,CPSF1,Silent,NM_013291,exon20,c.C2040T,p.H680H,SNP,SNVindel,exonic,CPSF1,NA,synonymous SNV,CPSF1:NM_013291:exon20:c.C2040T:p.H680H,NA,NA,NA,NA,NA,NA
chr8,145640466,145640466,C,T,R010_S,SLC39A4,Silent,NM_017767,exon3,c.G621A,p.G207G,SNP,SNVindel,exonic,SLC39A4,NA,synonymous SNV,"SLC39A4:NM_017767:exon3:c.G621A:p.G207G,SLC39A4:NM_130849:exon4:c.G696A:p.G232G",NA,NA,NA,NA,NA,NA
chr8,145722738,145722738,C,T,R010_S,PPP1R16A,Missense_Mutation,NM_001329443,exon3,c.C161T,p.P54L,SNP,SNVindel,exonic,PPP1R16A,NA,nonsynonymous SNV,"PPP1R16A:NM_001329443:exon3:c.C161T:p.P54L,PPP1R16A:NM_001329444:exon3:c.C161T:p.P54L,PPP1R16A:NM_001329445:exon3:c.C161T:p.P54L,PPP1R16A:NM_001329442:exon4:c.C161T:p.P54L,PPP1R16A:NM_032902:exon4:c.C161T:p.P54L",T,N,N,T,N,T
chr8,145730176,145730176,C,T,R010_S,GPT,Missense_Mutation,NM_005309,exon3,c.C275T,p.P92L,SNP,SNVindel,exonic,GPT,NA,nonsynonymous SNV,GPT:NM_005309:exon3:c.C275T:p.P92L,D,D,D,T,D,D
chr8,145745653,145745653,G,A,R010_S,LRRC14,Missense_Mutation,NM_014665,exon3,c.G361A,p.G121S,SNP,SNVindel,exonic,LRRC14,NA,nonsynonymous SNV,"LRRC14:NM_014665:exon3:c.G361A:p.G121S,LRRC14:NM_001272036:exon4:c.G361A:p.G121S",D,N,D,T,D,T
chr8,145772648,145772648,C,T,R010_S,ARHGAP39,Missense_Mutation,NM_025251,exon4,c.G1822A,p.A608T,SNP,SNVindel,exonic,ARHGAP39,NA,nonsynonymous SNV,"ARHGAP39:NM_025251:exon4:c.G1822A:p.A608T,ARHGAP39:NM_001308208:exon5:c.G1822A:p.A608T,ARHGAP39:NM_001308207:exon6:c.G1822A:p.A608T",T,N,D,T,N,T
chr8,145773032,145773032,C,T,R010_S,ARHGAP39,Missense_Mutation,NM_025251,exon4,c.G1438A,p.D480N,SNP,SNVindel,exonic,ARHGAP39,NA,nonsynonymous SNV,"ARHGAP39:NM_025251:exon4:c.G1438A:p.D480N,ARHGAP39:NM_001308208:exon5:c.G1438A:p.D480N,ARHGAP39:NM_001308207:exon6:c.G1438A:p.D480N",D,N,D,T,N,T
chr8,145806367,145806367,C,T,R010_S,ARHGAP39,Silent,NM_025251,exon2,c.G375A,p.G125G,SNP,SNVindel,exonic,ARHGAP39,NA,synonymous SNV,"ARHGAP39:NM_025251:exon2:c.G375A:p.G125G,ARHGAP39:NM_001308208:exon3:c.G375A:p.G125G,ARHGAP39:NM_001308207:exon4:c.G375A:p.G125G",NA,NA,NA,NA,NA,NA
chr8,146067315,146067315,G,A,R010_S,ZNF7,Missense_Mutation,NM_001349805,exon3,c.G535A,p.E179K,SNP,SNVindel,exonic,ZNF7,NA,nonsynonymous SNV,"ZNF7:NM_001349805:exon3:c.G535A:p.E179K,ZNF7:NM_001282797:exon4:c.G535A:p.E179K,ZNF7:NM_001349809:exon4:c.G886A:p.E296K,ZNF7:NM_001282795:exon5:c.G856A:p.E286K,ZNF7:NM_001349806:exon5:c.G874A:p.E292K,ZNF7:NM_001349807:exon5:c.G820A:p.E274K,ZNF7:NM_001349808:exon5:c.G871A:p.E291K,ZNF7:NM_003416:exon5:c.G823A:p.E275K",D,D,D,T,D,T
chr8,146278736,146278736,C,T,R010_S,C8orf33,Missense_Mutation,NM_023080,exon4,c.C457T,p.P153S,SNP,SNVindel,exonic,C8orf33,NA,nonsynonymous SNV,C8orf33:NM_023080:exon4:c.C457T:p.P153S,T,N,N,.,D,T
chr9,340251,340251,C,T,R010_S,DOCK8,Missense_Mutation,NM_001190458,exon13,c.C1405T,p.R469W,SNP,SNVindel,exonic,DOCK8,NA,nonsynonymous SNV,"DOCK8:NM_001190458:exon13:c.C1405T:p.R469W,DOCK8:NM_001193536:exon13:c.C1405T:p.R469W,DOCK8:NM_203447:exon14:c.C1609T:p.R537W",D,D,D,T,D,D
chr9,4544650,4544650,C,T,R010_S,SLC1A1,Silent,NM_004170,exon2,c.C175T,p.L59L,SNP,SNVindel,exonic,SLC1A1,NA,synonymous SNV,SLC1A1:NM_004170:exon2:c.C175T:p.L59L,NA,NA,NA,NA,NA,NA
chr9,5920459,5920459,C,T,R010_S,KIAA2026,Missense_Mutation,NM_001017969,exon8,c.G5537A,p.G1846D,SNP,SNVindel,exonic,KIAA2026,NA,nonsynonymous SNV,KIAA2026:NM_001017969:exon8:c.G5537A:p.G1846D,D,N,N,.,N,T
chr9,5922424,5922424,G,A,R010_S,KIAA2026,Missense_Mutation,NM_001017969,exon8,c.C3572T,p.T1191I,SNP,SNVindel,exonic,KIAA2026,NA,nonsynonymous SNV,KIAA2026:NM_001017969:exon8:c.C3572T:p.T1191I,D,N,N,.,N,T
chr9,5969375,5969375,C,T,R010_S,KIAA2026,Missense_Mutation,NM_001017969,exon3,c.G856A,p.E286K,SNP,SNVindel,exonic,KIAA2026,NA,nonsynonymous SNV,KIAA2026:NM_001017969:exon3:c.G856A:p.E286K,D,U,D,.,N,T
chr9,6460769,6460769,C,T,R010_S,UHRF2,Missense_Mutation,NM_152896,exon4,c.C841T,p.L281F,SNP,SNVindel,exonic,UHRF2,NA,nonsynonymous SNV,UHRF2:NM_152896:exon4:c.C841T:p.L281F,D,N,D,D,D,D
chr9,14776235,14776235,G,A,R010_S,FREM1,Missense_Mutation,NM_001177704,exon2,c.C17T,p.S6F,SNP,SNVindel,exonic,FREM1,NA,nonsynonymous SNV,"FREM1:NM_001177704:exon2:c.C17T:p.S6F,FREM1:NM_001370058:exon2:c.C17T:p.S6F,FREM1:NM_001370061:exon2:c.C17T:p.S6F",T,.,D,T,N,T
chr9,14841500,14841500,G,A,R010_S,FREM1,Missense_Mutation,NM_144966,exon11,c.C1826T,p.S609F,SNP,SNVindel,exonic,FREM1,NA,nonsynonymous SNV,FREM1:NM_144966:exon11:c.C1826T:p.S609F,T,D,D,T,D,T
chr9,15307158,15307158,G,A,R010_S,TTC39B,Missense_Mutation,NM_001168339,exon1,c.C164T,p.A55V,SNP,SNVindel,exonic,TTC39B,NA,nonsynonymous SNV,"TTC39B:NM_001168339:exon1:c.C164T:p.A55V,TTC39B:NM_001168340:exon1:c.C164T:p.A55V,TTC39B:NM_001168341:exon1:c.C164T:p.A55V,TTC39B:NM_152574:exon1:c.C164T:p.A55V",T,.,N,T,N,T
chr9,19345957,19345957,G,A,R010_S,DENND4C,Missense_Mutation,NM_017925,exon22,c.G3043A,p.V1015I,SNP,SNVindel,exonic,DENND4C,NA,nonsynonymous SNV,"DENND4C:NM_017925:exon22:c.G3043A:p.V1015I,DENND4C:NM_001330640:exon23:c.G3190A:p.V1064I",.,N,D,T,.,T
chr9,19446319,19446319,G,A,R010_S,ACER2,Missense_Mutation,NM_001010887,exon5,c.G544A,p.G182S,SNP,SNVindel,exonic,ACER2,NA,nonsynonymous SNV,ACER2:NM_001010887:exon5:c.G544A:p.G182S,T,D,D,T,N,T
chr9,20990262,20990262,C,T,R010_S,FOCAD,Silent,NM_017794,exon44,c.C5145T,p.F1715F,SNP,SNVindel,exonic,FOCAD,NA,synonymous SNV,FOCAD:NM_017794:exon44:c.C5145T:p.F1715F,NA,NA,NA,NA,NA,NA
chr9,21026612,21026612,G,A,R010_S,HACD4,Missense_Mutation,NM_001010915,exon3,c.C253T,p.L85F,SNP,SNVindel,exonic,HACD4,NA,nonsynonymous SNV,"HACD4:NM_001010915:exon3:c.C253T:p.L85F,HACD4:NM_001321883:exon3:c.C142T:p.L48F,HACD4:NM_001321903:exon3:c.C253T:p.L85F",T,N,N,T,N,T
chr9,21216885,21216885,G,A,R010_S,IFNA16,Silent,NM_002173,exon1,c.C420T,p.I140I,SNP,SNVindel,exonic,IFNA16,NA,synonymous SNV,IFNA16:NM_002173:exon1:c.C420T:p.I140I,NA,NA,NA,NA,NA,NA
chr9,21409574,21409574,C,T,R010_S,IFNA8,Silent,NM_002170,exon1,c.C399T,p.P133P,SNP,SNVindel,exonic,IFNA8,NA,synonymous SNV,IFNA8:NM_002170:exon1:c.C399T:p.P133P,NA,NA,NA,NA,NA,NA
chr9,32541757,32541757,C,T,R010_S,TOPORS,Silent,NM_001195622,exon2,c.G2571A,p.E857E,SNP,SNVindel,exonic,TOPORS,NA,synonymous SNV,"TOPORS:NM_001195622:exon2:c.G2571A:p.E857E,TOPORS:NM_005802:exon3:c.G2766A:p.E922E",NA,NA,NA,NA,NA,NA
chr9,32542837,32542837,C,T,R010_S,TOPORS,Silent,NM_001195622,exon2,c.G1491A,p.E497E,SNP,SNVindel,exonic,TOPORS,NA,synonymous SNV,"TOPORS:NM_001195622:exon2:c.G1491A:p.E497E,TOPORS:NM_005802:exon3:c.G1686A:p.E562E",NA,NA,NA,NA,NA,NA
chr9,33295173,33295173,C,T,R010_S,NFX1,Missense_Mutation,NM_001318758,exon2,c.C781T,p.P261S,SNP,SNVindel,exonic,NFX1,NA,nonsynonymous SNV,"NFX1:NM_001318758:exon2:c.C781T:p.P261S,NFX1:NM_002504:exon2:c.C781T:p.P261S,NFX1:NM_147134:exon2:c.C781T:p.P261S",T,N,N,T,N,T
chr9,33318751,33318751,C,T,R010_S,NFX1,Silent,NM_001318758,exon8,c.C1611T,p.S537S,SNP,SNVindel,exonic,NFX1,NA,synonymous SNV,"NFX1:NM_001318758:exon8:c.C1611T:p.S537S,NFX1:NM_002504:exon8:c.C1611T:p.S537S,NFX1:NM_147134:exon8:c.C1611T:p.S537S",NA,NA,NA,NA,NA,NA
chr9,33912051,33912051,G,A,R010_S,UBE2R2,Nonsense_Mutation,NM_017811,exon4,c.G452A,p.W151X,SNP,SNVindel,exonic,UBE2R2,NA,stopgain,UBE2R2:NM_017811:exon4:c.G452A:p.W151X,.,D,D,.,.,.
chr9,33923390,33923390,G,A,R010_S,UBAP2,Silent,NM_001282530,exon9,c.C600T,p.H200H,SNP,SNVindel,exonic,UBAP2,NA,synonymous SNV,"UBAP2:NM_001282530:exon9:c.C600T:p.H200H,UBAP2:NM_001370067:exon23:c.C2724T:p.H908H,UBAP2:NM_001370064:exon24:c.C2610T:p.H870H,UBAP2:NM_001370068:exon24:c.C2769T:p.H923H,UBAP2:NM_001370059:exon25:c.C2883T:p.H961H,UBAP2:NM_001370062:exon25:c.C2883T:p.H961H,UBAP2:NM_018449:exon25:c.C2883T:p.H961H,UBAP2:NM_001370066:exon26:c.C2769T:p.H923H",NA,NA,NA,NA,NA,NA
chr9,34257021,34257021,C,T,R010_S,KIF24,Missense_Mutation,NM_194313,exon11,c.G2584A,p.G862R,SNP,SNVindel,exonic,KIF24,NA,nonsynonymous SNV,KIF24:NM_194313:exon11:c.G2584A:p.G862R,D,N,N,T,N,T
chr9,34257216,34257216,C,T,R010_S,KIF24,Missense_Mutation,NM_194313,exon11,c.G2389A,p.E797K,SNP,SNVindel,exonic,KIF24,NA,nonsynonymous SNV,KIF24:NM_194313:exon11:c.G2389A:p.E797K,D,N,N,T,N,T
chr9,34371478,34371478,C,T,R010_S,MYORG,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MYORG,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr9,34978069,34978069,C,T,R010_S,PHF24,Silent,NM_001304333,exon8,c.C1164T,p.R388R,SNP,SNVindel,exonic,PHF24,NA,synonymous SNV,"PHF24:NM_001304333:exon8:c.C1164T:p.R388R,PHF24:NM_001347982:exon8:c.C1167T:p.R389R,PHF24:NM_001347983:exon8:c.C1167T:p.R389R,PHF24:NM_015297:exon8:c.C1164T:p.R388R",NA,NA,NA,NA,NA,NA
chr9,35042272,35042272,C,T,R010_S,C9orf131,Silent,NM_001040410,exon1,c.C21T,p.D7D,SNP,SNVindel,exonic,C9orf131,NA,synonymous SNV,"C9orf131:NM_001040410:exon1:c.C21T:p.D7D,C9orf131:NM_203299:exon1:c.C21T:p.D7D",NA,NA,NA,NA,NA,NA
chr9,35043849,35043849,C,T,R010_S,C9orf131,Missense_Mutation,NM_001040410,exon2,c.C1118T,p.S373F,SNP,SNVindel,exonic,C9orf131,NA,nonsynonymous SNV,"C9orf131:NM_001040410:exon2:c.C1118T:p.S373F,C9orf131:NM_001040411:exon2:c.C1004T:p.S335F,C9orf131:NM_001287391:exon2:c.C1004T:p.S335F,C9orf131:NM_203299:exon2:c.C1223T:p.S408F,C9orf131:NM_001040412:exon3:c.C1079T:p.S360F",T,N,N,T,N,T
chr9,35101425,35101425,G,A,R010_S,STOML2,Nonsense_Mutation,NM_001287033,exon5,c.C439T,p.Q147X,SNP,SNVindel,exonic,STOML2,NA,stopgain,"STOML2:NM_001287033:exon5:c.C439T:p.Q147X,STOML2:NM_001287032:exon6:c.C424T:p.Q142X,STOML2:NM_013442:exon6:c.C577T:p.Q193X",.,D,A,.,.,.
chr9,35243355,35243355,C,T,R010_S,UNC13B,Silent,NM_001330653,exon6,c.C462T,p.D154D,SNP,SNVindel,exonic,UNC13B,NA,synonymous SNV,"UNC13B:NM_001330653:exon6:c.C462T:p.D154D,UNC13B:NM_001371186:exon6:c.C462T:p.D154D,UNC13B:NM_001371189:exon6:c.C462T:p.D154D,UNC13B:NM_006377:exon6:c.C462T:p.D154D",NA,NA,NA,NA,NA,NA
chr9,35805860,35805860,G,A,R010_S,NPR2,Missense_Mutation,NM_003995,exon14,c.G2081A,p.G694E,SNP,SNVindel,exonic,NPR2,NA,nonsynonymous SNV,NPR2:NM_003995:exon14:c.G2081A:p.G694E,T,N,D,T,N,T
chr9,35819979,35819979,C,T,R010_S,FAM221B,Missense_Mutation,NM_001012446,exon4,c.G761A,p.R254H,SNP,SNVindel,exonic,FAM221B,NA,nonsynonymous SNV,FAM221B:NM_001012446:exon4:c.G761A:p.R254H,D,.,D,T,D,T
chr9,36211652,36211652,G,A,R010_S,CLTA,Missense_Mutation,NM_001184762,exon3,c.G382A,p.E128K,SNP,SNVindel,exonic,CLTA,NA,nonsynonymous SNV,"CLTA:NM_001184762:exon3:c.G382A:p.E128K,CLTA:NM_001311205:exon4:c.G418A:p.E140K,CLTA:NM_001311206:exon4:c.G187A:p.E63K,CLTA:NM_001311203:exon5:c.G304A:p.E102K,CLTA:NM_001311204:exon5:c.G472A:p.E158K,CLTA:NM_001833:exon5:c.G538A:p.E180K,CLTA:NM_001076677:exon6:c.G592A:p.E198K,CLTA:NM_001184760:exon6:c.G574A:p.E192K,CLTA:NM_007096:exon7:c.G628A:p.E210K",D,D,D,.,D,D
chr9,36589543,36589543,C,T,R010_S,MELK,Missense_Mutation,NM_001256689,exon3,c.C59T,p.P20L,SNP,SNVindel,exonic,MELK,NA,nonsynonymous SNV,"MELK:NM_001256689:exon3:c.C59T:p.P20L,MELK:NM_001256691:exon3:c.C59T:p.P20L,MELK:NM_001256685:exon4:c.C155T:p.P52L,MELK:NM_001256687:exon4:c.C155T:p.P52L,MELK:NM_001256688:exon4:c.C155T:p.P52L,MELK:NM_014791:exon4:c.C155T:p.P52L",D,D,D,T,D,T
chr9,37349369,37349369,C,T,R010_S,ZCCHC7,Missense_Mutation,NM_001289119,exon7,c.C1003T,p.P335S,SNP,SNVindel,exonic,ZCCHC7,NA,nonsynonymous SNV,"ZCCHC7:NM_001289119:exon7:c.C1003T:p.P335S,ZCCHC7:NM_001289120:exon7:c.C1003T:p.P335S,ZCCHC7:NM_001289121:exon7:c.C1003T:p.P335S,ZCCHC7:NM_032226:exon7:c.C1003T:p.P335S",D,N,N,T,N,T
chr9,37356957,37356957,G,A,R010_S,ZCCHC7,Missense_Mutation,NM_001289119,exon9,c.G1324A,p.E442K,SNP,SNVindel,exonic,ZCCHC7,NA,nonsynonymous SNV,"ZCCHC7:NM_001289119:exon9:c.G1324A:p.E442K,ZCCHC7:NM_001289120:exon9:c.G1324A:p.E442K,ZCCHC7:NM_001289121:exon9:c.G1324A:p.E442K,ZCCHC7:NM_032226:exon9:c.G1324A:p.E442K",T,D,D,T,N,T
chr9,37769950,37769950,G,A,R010_S,TRMT10B,Missense_Mutation,NM_001286952,exon4,c.G352A,p.E118K,SNP,SNVindel,exonic,TRMT10B,NA,nonsynonymous SNV,"TRMT10B:NM_001286952:exon4:c.G352A:p.E118K,TRMT10B:NM_001286953:exon4:c.G253A:p.E85K,TRMT10B:NM_001286950:exon5:c.G433A:p.E145K,TRMT10B:NM_001286951:exon5:c.G301A:p.E101K,TRMT10B:NM_001286954:exon5:c.G253A:p.E85K,TRMT10B:NM_144964:exon6:c.G586A:p.E196K",T,D,D,T,N,T
chr9,38424089,38424089,G,A,R010_S,IGFBPL1,Silent,NM_001007563,exon1,c.C333T,p.R111R,SNP,SNVindel,exonic,IGFBPL1,NA,synonymous SNV,IGFBPL1:NM_001007563:exon1:c.C333T:p.R111R,NA,NA,NA,NA,NA,NA
chr9,71836030,71836030,C,T,R010_S,TJP2,Silent,NM_001170415,exon5,c.C582T,p.D194D,SNP,SNVindel,exonic,TJP2,NA,synonymous SNV,"TJP2:NM_001170415:exon5:c.C582T:p.D194D,TJP2:NM_001170416:exon5:c.C663T:p.D221D,TJP2:NM_001369872:exon5:c.C570T:p.D190D,TJP2:NM_001369873:exon5:c.C570T:p.D190D,TJP2:NM_001369874:exon5:c.C582T:p.D194D,TJP2:NM_001369875:exon5:c.C582T:p.D194D,TJP2:NM_004817:exon5:c.C570T:p.D190D,TJP2:NM_201629:exon5:c.C570T:p.D190D,TJP2:NM_001170414:exon6:c.C501T:p.D167D,TJP2:NM_001369870:exon6:c.C501T:p.D167D,TJP2:NM_001369871:exon7:c.C501T:p.D167D",NA,NA,NA,NA,NA,NA
chr9,72961560,72961560,C,T,R010_S,SMC5,Missense_Mutation,NM_015110,exon19,c.C2563T,p.P855S,SNP,SNVindel,exonic,SMC5,NA,nonsynonymous SNV,SMC5:NM_015110:exon19:c.C2563T:p.P855S,T,N,D,T,N,T
chr9,72962850,72962850,C,T,R010_S,SMC5,Missense_Mutation,NM_015110,exon22,c.C2785T,p.L929F,SNP,SNVindel,exonic,SMC5,NA,nonsynonymous SNV,SMC5:NM_015110:exon22:c.C2785T:p.L929F,D,D,D,D,D,D
chr9,75531971,75531971,G,A,R010_S,ALDH1A1,Silent,NM_000689,exon9,c.C900T,p.G300G,SNP,SNVindel,exonic,ALDH1A1,NA,synonymous SNV,ALDH1A1:NM_000689:exon9:c.C900T:p.G300G,D,.,D,T,N,T
chr9,77339619,77339619,G,A,R010_S,TRPM6,Silent,NM_001177310,exon39,c.C5964T,p.T1988T,SNP,SNVindel,exonic,TRPM6,NA,synonymous SNV,"TRPM6:NM_001177310:exon39:c.C5964T:p.T1988T,TRPM6:NM_001177311:exon39:c.C5964T:p.T1988T,TRPM6:NM_017662:exon39:c.C5979T:p.T1993T",NA,NA,NA,NA,NA,NA
chr9,77377163,77377163,C,T,R010_S,TRPM6,Missense_Mutation,NM_001177310,exon26,c.G4409A,p.C1470Y,SNP,SNVindel,exonic,TRPM6,NA,nonsynonymous SNV,"TRPM6:NM_001177310:exon26:c.G4409A:p.C1470Y,TRPM6:NM_001177311:exon26:c.G4409A:p.C1470Y,TRPM6:NM_017662:exon26:c.G4424A:p.C1475Y",T,N,N,T,N,T
chr9,77642993,77642993,C,T,R010_S,CARNMT1,Silent,NM_152420,exon1,c.G165A,p.E55E,SNP,SNVindel,exonic,CARNMT1,NA,synonymous SNV,CARNMT1:NM_152420:exon1:c.G165A:p.E55E,NA,NA,NA,NA,NA,NA
chr9,79118234,79118234,C,A,R010_S,GCNT1,Missense_Mutation,NM_001097636,exon2,c.C937A,p.Q313K,SNP,SNVindel,exonic,GCNT1,NA,nonsynonymous SNV,"GCNT1:NM_001097636:exon2:c.C937A:p.Q313K,GCNT1:NM_001097633:exon3:c.C937A:p.Q313K,GCNT1:NM_001097634:exon3:c.C937A:p.Q313K,GCNT1:NM_001097635:exon3:c.C937A:p.Q313K,GCNT1:NM_001490:exon4:c.C937A:p.Q313K",T,N,D,T,N,T
chr9,79320208,79320208,G,A,R010_S,PRUNE2,Missense_Mutation,NM_001308047,exon8,c.C6982T,p.H2328Y,SNP,SNVindel,exonic,PRUNE2,NA,nonsynonymous SNV,"PRUNE2:NM_001308047:exon8:c.C6982T:p.H2328Y,PRUNE2:NM_001308048:exon8:c.C6982T:p.H2328Y,PRUNE2:NM_015225:exon8:c.C6982T:p.H2328Y",D,N,N,T,N,T
chr9,79829247,79829247,C,T,R010_S,VPS13A,Silent,NM_001018037,exon10,c.C699T,p.D233D,SNP,SNVindel,exonic,VPS13A,NA,synonymous SNV,"VPS13A:NM_001018037:exon10:c.C699T:p.D233D,VPS13A:NM_001018038:exon10:c.C699T:p.D233D,VPS13A:NM_015186:exon10:c.C699T:p.D233D,VPS13A:NM_033305:exon10:c.C699T:p.D233D",NA,NA,NA,NA,NA,NA
chr9,86616646,86616646,G,A,R010_S,RMI1,Missense_Mutation,NM_001358291,exon3,c.G745A,p.A249T,SNP,SNVindel,exonic,RMI1,NA,nonsynonymous SNV,"RMI1:NM_001358291:exon3:c.G745A:p.A249T,RMI1:NM_001358294:exon3:c.G745A:p.A249T,RMI1:NM_024945:exon3:c.G745A:p.A249T,RMI1:NM_001358292:exon4:c.G745A:p.A249T,RMI1:NM_001358293:exon4:c.G745A:p.A249T",D,D,D,T,N,T
chr9,86900965,86900965,C,T,R010_S,SLC28A3,Missense_Mutation,NM_001199633,exon13,c.G1342A,p.A448T,SNP,SNVindel,exonic,SLC28A3,NA,nonsynonymous SNV,"SLC28A3:NM_001199633:exon13:c.G1342A:p.A448T,SLC28A3:NM_022127:exon14:c.G1342A:p.A448T",T,D,D,T,D,T
chr9,87342822,87342822,G,A,R010_S,NTRK2,Silent,NM_001369552,exon6,c.G639A,p.K213K,SNP,SNVindel,exonic,NTRK2,NA,synonymous SNV,"NTRK2:NM_001369552:exon6:c.G639A:p.K213K,NTRK2:NM_001369535:exon8:c.G639A:p.K213K,NTRK2:NM_001369536:exon8:c.G639A:p.K213K,NTRK2:NM_001369538:exon8:c.G1107A:p.K369K,NTRK2:NM_001369549:exon8:c.G1107A:p.K369K,NTRK2:NM_001369550:exon8:c.G639A:p.K213K,NTRK2:NM_001369551:exon8:c.G639A:p.K213K,NTRK2:NM_001018064:exon9:c.G1107A:p.K369K,NTRK2:NM_001018065:exon9:c.G1107A:p.K369K,NTRK2:NM_001369533:exon9:c.G1107A:p.K369K,NTRK2:NM_001369534:exon9:c.G1107A:p.K369K,NTRK2:NM_001369539:exon9:c.G1107A:p.K369K,NTRK2:NM_001369540:exon9:c.G1107A:p.K369K,NTRK2:NM_001369546:exon9:c.G1068A:p.K356K,NTRK2:NM_001369547:exon9:c.G1107A:p.K369K,NTRK2:NM_001369548:exon9:c.G1107A:p.K369K,NTRK2:NM_001369532:exon10:c.G1107A:p.K369K,NTRK2:NM_001369537:exon10:c.G1107A:p.K369K,NTRK2:NM_001369542:exon10:c.G1107A:p.K369K,NTRK2:NM_001369545:exon10:c.G1107A:p.K369K,NTRK2:NM_001007097:exon11:c.G1107A:p.K369K,NTRK2:NM_001018066:exon11:c.G1107A:p.K369K,NTRK2:NM_001291937:exon11:c.G1068A:p.K356K,NTRK2:NM_001369541:exon11:c.G1107A:p.K369K,NTRK2:NM_001369543:exon11:c.G1107A:p.K369K,NTRK2:NM_001369544:exon11:c.G1107A:p.K369K,NTRK2:NM_006180:exon11:c.G1107A:p.K369K",NA,NA,NA,NA,NA,NA
chr9,88207569,88207569,G,A,R010_S,AGTPBP1,Missense_Mutation,NM_001286715,exon18,c.C2630T,p.S877F,SNP,SNVindel,exonic,AGTPBP1,NA,nonsynonymous SNV,"AGTPBP1:NM_001286715:exon18:c.C2630T:p.S877F,AGTPBP1:NM_001286717:exon18:c.C2510T:p.S837F,AGTPBP1:NM_001330701:exon19:c.C2474T:p.S825F,AGTPBP1:NM_015239:exon19:c.C2354T:p.S785F",D,D,D,T,D,T
chr9,90256957,90256957,C,T,R010_S,DAPK1,Missense_Mutation,NM_001288729,exon10,c.C902T,p.A301V,SNP,SNVindel,exonic,DAPK1,NA,nonsynonymous SNV,"DAPK1:NM_001288729:exon10:c.C902T:p.A301V,DAPK1:NM_001288730:exon10:c.C902T:p.A301V,DAPK1:NM_001288731:exon10:c.C902T:p.A301V,DAPK1:NM_004938:exon10:c.C902T:p.A301V",T,D,D,T,N,T
chr9,90588866,90588866,C,T,R010_S,CDK20,Missense_Mutation,NM_001039803,exon2,c.G160A,p.A54T,SNP,SNVindel,exonic,CDK20,NA,nonsynonymous SNV,"CDK20:NM_001039803:exon2:c.G160A:p.A54T,CDK20:NM_001170639:exon2:c.G160A:p.A54T,CDK20:NM_001170640:exon2:c.G160A:p.A54T,CDK20:NM_012119:exon2:c.G160A:p.A54T,CDK20:NM_178432:exon2:c.G199A:p.A67T",T,D,D,T,N,T
chr9,91150540,91150540,C,T,R010_S,NXNL2,Missense_Mutation,NM_001161625,exon1,c.C191T,p.P64L,SNP,SNVindel,exonic,NXNL2,NA,nonsynonymous SNV,"NXNL2:NM_001161625:exon1:c.C191T:p.P64L,NXNL2:NM_145283:exon1:c.C191T:p.P64L",D,N,D,T,D,T
chr9,93606533,93606533,G,A,R010_S,SYK,Missense_Mutation,NM_001135052,exon2,c.G353A,p.G118E,SNP,SNVindel,exonic,SYK,NA,nonsynonymous SNV,"SYK:NM_001135052:exon2:c.G353A:p.G118E,SYK:NM_001174167:exon2:c.G353A:p.G118E,SYK:NM_001174168:exon2:c.G353A:p.G118E,SYK:NM_003177:exon2:c.G353A:p.G118E",D,D,D,T,D,T
chr9,94794620,94794620,C,T,R010_S,SPTLC1,Nonsense_Mutation,NM_001281303,exon15,c.G1517A,p.W506X,SNP,SNVindel,exonic,SPTLC1,NA,stopgain,SPTLC1:NM_001281303:exon15:c.G1517A:p.W506X,NA,NA,NA,NA,NA,NA
chr9,94985752,94985752,G,A,R010_S,IARS,Silent,NM_002161,exon32,c.C3429T,p.D1143D,SNP,SNVindel,exonic,IARS,NA,synonymous SNV,"IARS:NM_002161:exon32:c.C3429T:p.D1143D,IARS:NM_013417:exon32:c.C3429T:p.D1143D",NA,NA,NA,NA,NA,NA
chr9,95179512,95179512,G,A,R010_S,OMD,Missense_Mutation,NM_005014,exon2,c.C329T,p.S110L,SNP,SNVindel,exonic,OMD,NA,nonsynonymous SNV,OMD:NM_005014:exon2:c.C329T:p.S110L,T,N,D,T,D,T
chr9,95237153,95237153,G,A,R010_S,ASPN,Silent,NM_001193335,exon2,c.C27T,p.F9F,SNP,SNVindel,exonic,ASPN,NA,synonymous SNV,"ASPN:NM_001193335:exon2:c.C27T:p.F9F,ASPN:NM_017680:exon2:c.C27T:p.F9F",NA,NA,NA,NA,NA,NA
chr9,95277042,95277042,G,A,R010_S,ECM2,Missense_Mutation,NM_001197295,exon4,c.C859T,p.P287S,SNP,SNVindel,exonic,ECM2,NA,nonsynonymous SNV,"ECM2:NM_001197295:exon4:c.C859T:p.P287S,ECM2:NM_001197296:exon4:c.C859T:p.P287S,ECM2:NM_001393:exon4:c.C925T:p.P309S",T,N,N,T,D,T
chr9,96233453,96233453,G,A,R010_S,FAM120A,Missense_Mutation,NM_001286722,exon2,c.G505A,p.E169K,SNP,SNVindel,exonic,FAM120A,NA,nonsynonymous SNV,"FAM120A:NM_001286722:exon2:c.G505A:p.E169K,FAM120A:NM_001286723:exon2:c.G505A:p.E169K,FAM120A:NM_001286724:exon2:c.G505A:p.E169K,FAM120A:NM_014612:exon2:c.G505A:p.E169K",D,D,D,T,D,T
chr9,96859896,96859896,C,T,R010_S,PTPDC1,Silent,NM_001253829,exon6,c.C1048T,p.L350L,SNP,SNVindel,exonic,PTPDC1,NA,synonymous SNV,"PTPDC1:NM_001253829:exon6:c.C1048T:p.L350L,PTPDC1:NM_152422:exon6:c.C1042T:p.L348L,PTPDC1:NM_001253830:exon7:c.C886T:p.L296L,PTPDC1:NM_177995:exon7:c.C886T:p.L296L",NA,NA,NA,NA,NA,NA
chr9,97563265,97563265,C,T,R010_S,AOPEP,Missense_Mutation,NM_001193329,exon4,c.C1345T,p.P449S,SNP,SNVindel,exonic,AOPEP,NA,nonsynonymous SNV,"AOPEP:NM_001193329:exon4:c.C1345T:p.P449S,AOPEP:NM_001193331:exon5:c.C1345T:p.P449S,AOPEP:NM_032823:exon5:c.C1345T:p.P449S",T,N,D,T,N,T
chr9,98209690,98209690,C,T,R010_S,PTCH1,Missense_Mutation,NM_001354918,exon22,c.G3692A,p.R1231K,SNP,SNVindel,exonic,PTCH1,NA,nonsynonymous SNV,"PTCH1:NM_001354918:exon22:c.G3692A:p.R1231K,PTCH1:NM_000264:exon23:c.G3848A:p.R1283K,PTCH1:NM_001083602:exon23:c.G3650A:p.R1217K,PTCH1:NM_001083603:exon23:c.G3845A:p.R1282K,PTCH1:NM_001083604:exon23:c.G3395A:p.R1132K,PTCH1:NM_001083605:exon23:c.G3395A:p.R1132K,PTCH1:NM_001083606:exon23:c.G3395A:p.R1132K,PTCH1:NM_001083607:exon23:c.G3395A:p.R1132K",T,N,D,D,N,T
chr9,98224193,98224193,G,A,R010_S,PTCH1,Missense_Mutation,NM_001354918,exon15,c.C2492T,p.A831V,SNP,SNVindel,exonic,PTCH1,NA,nonsynonymous SNV,"PTCH1:NM_001354918:exon15:c.C2492T:p.A831V,PTCH1:NM_000264:exon16:c.C2648T:p.A883V,PTCH1:NM_001083602:exon16:c.C2450T:p.A817V,PTCH1:NM_001083603:exon16:c.C2645T:p.A882V,PTCH1:NM_001083604:exon16:c.C2195T:p.A732V,PTCH1:NM_001083605:exon16:c.C2195T:p.A732V,PTCH1:NM_001083606:exon16:c.C2195T:p.A732V,PTCH1:NM_001083607:exon16:c.C2195T:p.A732V",D,D,D,D,D,D
chr9,98224252,98224252,C,T,R010_S,PTCH1,Nonsense_Mutation,NM_001354918,exon15,c.G2433A,p.W811X,SNP,SNVindel,exonic,PTCH1,NA,stopgain,"PTCH1:NM_001354918:exon15:c.G2433A:p.W811X,PTCH1:NM_000264:exon16:c.G2589A:p.W863X,PTCH1:NM_001083602:exon16:c.G2391A:p.W797X,PTCH1:NM_001083603:exon16:c.G2586A:p.W862X,PTCH1:NM_001083604:exon16:c.G2136A:p.W712X,PTCH1:NM_001083605:exon16:c.G2136A:p.W712X,PTCH1:NM_001083606:exon16:c.G2136A:p.W712X,PTCH1:NM_001083607:exon16:c.G2136A:p.W712X",.,D,A,.,.,.
chr9,100079360,100079360,C,T,R010_S,CCDC180,Missense_Mutation,NM_020893,exon9,c.C941T,p.A314V,SNP,SNVindel,exonic,CCDC180,NA,nonsynonymous SNV,"CCDC180:NM_020893:exon9:c.C941T:p.A314V,CCDC180:NM_001348010:exon10:c.C932T:p.A311V",D,D,D,T,N,T
chr9,100700366,100700366,G,A,R010_S,HEMGN,Missense_Mutation,NM_197978,exon1,c.C53T,p.P18L,SNP,SNVindel,exonic,HEMGN,NA,nonsynonymous SNV,"HEMGN:NM_197978:exon1:c.C53T:p.P18L,HEMGN:NM_018437:exon2:c.C53T:p.P18L",T,N,N,.,N,T
chr9,103055279,103055279,C,T,R010_S,INVS,Missense_Mutation,NM_001318382,exon14,c.C1762T,p.R588C,SNP,SNVindel,exonic,INVS,NA,nonsynonymous SNV,"INVS:NM_001318382:exon14:c.C1762T:p.R588C,INVS:NM_014425:exon14:c.C2740T:p.R914C,INVS:NM_001318381:exon15:c.C2452T:p.R818C",D,D,D,T,N,T
chr9,106861927,106861927,C,T,R010_S,SMC2,Silent,NM_001042550,exon5,c.C444T,p.G148G,SNP,SNVindel,exonic,SMC2,NA,synonymous SNV,"SMC2:NM_001042550:exon5:c.C444T:p.G148G,SMC2:NM_001042551:exon5:c.C444T:p.G148G,SMC2:NM_001265602:exon5:c.C444T:p.G148G,SMC2:NM_006444:exon5:c.C444T:p.G148G",NA,NA,NA,NA,NA,NA
chr9,107298789,107298789,G,A,R010_S,OR13C3,Silent,NM_001001961,exon1,c.C306T,p.C102C,SNP,SNVindel,exonic,OR13C3,NA,synonymous SNV,OR13C3:NM_001001961:exon1:c.C306T:p.C102C,NA,NA,NA,NA,NA,NA
chr9,107581112,107581112,C,T,R010_S,ABCA1,Silent,NM_005502,exon23,c.G3294A,p.G1098G,SNP,SNVindel,exonic,ABCA1,NA,synonymous SNV,ABCA1:NM_005502:exon23:c.G3294A:p.G1098G,NA,NA,NA,NA,NA,NA
chr9,111718075,111718075,G,A,R010_S,CTNNAL1,Missense_Mutation,NM_001286974,exon12,c.C1624T,p.P542S,SNP,SNVindel,exonic,CTNNAL1,NA,nonsynonymous SNV,"CTNNAL1:NM_001286974:exon12:c.C1624T:p.P542S,CTNNAL1:NM_003798:exon12:c.C1624T:p.P542S",D,N,D,T,D,T
chr9,112899329,112899329,G,A,R010_S,PALM2-AKAP2,Missense_Mutation,NM_001004065,exon2,c.G1079A,p.R360K,SNP,SNVindel,exonic,PALM2-AKAP2,NA,nonsynonymous SNV,"PALM2-AKAP2:NM_001004065:exon2:c.G1079A:p.R360K,PALM2-AKAP2:NM_001136562:exon2:c.G812A:p.R271K,PALM2-AKAP2:NM_001198656:exon2:c.G1079A:p.R360K,PALM2-AKAP2:NM_007203:exon8:c.G1505A:p.R502K,PALM2-AKAP2:NM_147150:exon8:c.G1505A:p.R502K",T,N,N,T,N,T
chr9,114486111,114486111,C,T,R010_S,SHOC1,Missense_Mutation,NM_001080551,exon10,c.G1606A,p.E536K,SNP,SNVindel,exonic,SHOC1,NA,nonsynonymous SNV,"SHOC1:NM_001080551:exon10:c.G1606A:p.E536K,SHOC1:NM_173521:exon12:c.G1723A:p.E575K",T,N,N,T,N,T
chr9,114688750,114688750,C,T,R010_S,UGCG,Nonsense_Mutation,NM_003358,exon5,c.C532T,p.Q178X,SNP,SNVindel,exonic,UGCG,NA,stopgain,UGCG:NM_003358:exon5:c.C532T:p.Q178X,.,D,A,.,.,.
chr9,116060219,116060219,G,A,R010_S,RNF183,Silent,NM_001371234,exon2,c.C246T,p.A82A,SNP,SNVindel,exonic,RNF183,NA,synonymous SNV,"RNF183:NM_001371234:exon2:c.C246T:p.A82A,RNF183:NM_145051:exon2:c.C246T:p.A82A,RNF183:NM_001371235:exon4:c.C246T:p.A82A,RNF183:NM_001371236:exon4:c.C246T:p.A82A,RNF183:NM_001371237:exon5:c.C246T:p.A82A",NA,NA,NA,NA,NA,NA
chr9,116135898,116135898,C,T,R010_S,HDHD3,Missense_Mutation,NM_001304511,exon2,c.G737A,p.G246D,SNP,SNVindel,exonic,HDHD3,NA,nonsynonymous SNV,"HDHD3:NM_001304511:exon2:c.G737A:p.G246D,HDHD3:NM_031219:exon2:c.G737A:p.G246D,HDHD3:NM_001304509:exon3:c.G737A:p.G246D,HDHD3:NM_001304510:exon3:c.G737A:p.G246D",D,N,N,T,N,T
chr9,116811689,116811689,C,T,R010_S,ZNF618,Silent,NM_001318040,exon14,c.C2008T,p.L670L,SNP,SNVindel,exonic,ZNF618,NA,synonymous SNV,"ZNF618:NM_001318040:exon14:c.C2008T:p.L670L,ZNF618:NM_001318041:exon14:c.C2011T:p.L671L,ZNF618:NM_133374:exon14:c.C1828T:p.L610L,ZNF618:NM_001318042:exon15:c.C2107T:p.L703L",NA,NA,NA,NA,NA,NA
chr9,116956685,116956685,G,A,R010_S,COL27A1,Missense_Mutation,NM_032888,exon6,c.G2018A,p.G673E,SNP,SNVindel,exonic,COL27A1,NA,nonsynonymous SNV,COL27A1:NM_032888:exon6:c.G2018A:p.G673E,D,.,D,D,D,D
chr9,117008152,117008152,C,T,R010_S,COL27A1,Missense_Mutation,NM_032888,exon24,c.C2941T,p.P981S,SNP,SNVindel,exonic,COL27A1,NA,nonsynonymous SNV,COL27A1:NM_032888:exon24:c.C2941T:p.P981S,T,.,D,D,D,D
chr9,117130743,117130743,C,T,R010_S,AKNA,Missense_Mutation,NM_001317952,exon4,c.G1192A,p.D398N,SNP,SNVindel,exonic,AKNA,NA,nonsynonymous SNV,"AKNA:NM_001317952:exon4:c.G1192A:p.D398N,AKNA:NM_001317950:exon5:c.G1549A:p.D517N,AKNA:NM_030767:exon5:c.G1549A:p.D517N",T,N,N,T,N,T
chr9,123367582,123367582,G,A,R010_S,MEGF9,Silent,NM_001080497,exon6,c.C1695T,p.Y565Y,SNP,SNVindel,exonic,MEGF9,NA,synonymous SNV,MEGF9:NM_001080497:exon6:c.C1695T:p.Y565Y,NA,NA,NA,NA,NA,NA
chr9,123367821,123367821,G,A,R010_S,MEGF9,Missense_Mutation,NM_001080497,exon6,c.C1456T,p.P486S,SNP,SNVindel,exonic,MEGF9,NA,nonsynonymous SNV,MEGF9:NM_001080497:exon6:c.C1456T:p.P486S,T,N,D,T,D,T
chr9,123476512,123476512,G,A,R010_S,MEGF9,Missense_Mutation,NM_001080497,exon1,c.C125T,p.T42I,SNP,SNVindel,exonic,MEGF9,NA,nonsynonymous SNV,MEGF9:NM_001080497:exon1:c.C125T:p.T42I,D,N,D,T,N,T
chr9,123792736,123792736,G,A,R010_S,C5,Missense_Mutation,NM_001317163,exon7,c.C715T,p.P239S,SNP,SNVindel,exonic,C5,NA,nonsynonymous SNV,"C5:NM_001317163:exon7:c.C715T:p.P239S,C5:NM_001317164:exon7:c.C697T:p.P233S,C5:NM_001735:exon7:c.C697T:p.P233S",D,D,D,T,D,T
chr9,123858811,123858811,C,T,R010_S,CNTRL,Silent,NM_007018,exon4,c.C591T,p.V197V,SNP,SNVindel,exonic,CNTRL,NA,synonymous SNV,"CNTRL:NM_007018:exon4:c.C591T:p.V197V,CNTRL:NM_001369893:exon5:c.C591T:p.V197V,CNTRL:NM_001369894:exon5:c.C591T:p.V197V,CNTRL:NM_001369895:exon5:c.C90T:p.V30V,CNTRL:NM_001369896:exon5:c.C591T:p.V197V",NA,NA,NA,NA,NA,NA
chr9,125133539,125133539,G,A,R010_S,PTGS1,Missense_Mutation,NM_000962,exon2,c.G82A,p.A28T,SNP,SNVindel,exonic,PTGS1,NA,nonsynonymous SNV,"PTGS1:NM_000962:exon2:c.G82A:p.A28T,PTGS1:NM_001271164:exon2:c.G82A:p.A28T,PTGS1:NM_080591:exon2:c.G82A:p.A28T",T,N,N,T,N,T
chr9,125377735,125377735,C,T,R010_S,OR1Q1,Missense_Mutation,NM_012364,exon1,c.C719T,p.T240I,SNP,SNVindel,exonic,OR1Q1,NA,nonsynonymous SNV,OR1Q1:NM_012364:exon1:c.C719T:p.T240I,D,D,D,T,D,T
chr9,125424070,125424070,C,T,R010_S,OR1L1,Missense_Mutation,NM_001005236,exon1,c.C76T,p.P26S,SNP,SNVindel,exonic,OR1L1,NA,nonsynonymous SNV,OR1L1:NM_001005236:exon1:c.C76T:p.P26S,T,.,N,T,N,T
chr9,125746940,125746940,G,A,R010_S,RABGAP1,Silent,NM_012197,exon3,c.G327A,p.V109V,SNP,SNVindel,exonic,RABGAP1,NA,synonymous SNV,RABGAP1:NM_012197:exon3:c.G327A:p.V109V,NA,NA,NA,NA,NA,NA
chr9,125835947,125835947,C,T,R010_S,RABGAP1,Silent,NM_012197,exon16,c.C2100T,p.R700R,SNP,SNVindel,exonic,RABGAP1,NA,synonymous SNV,RABGAP1:NM_012197:exon16:c.C2100T:p.R700R,NA,NA,NA,NA,NA,NA
chr9,126146007,126146007,C,T,R010_S,DENND1A,Missense_Mutation,NM_001352965,exon20,c.G1796A,p.G599D,SNP,SNVindel,exonic,DENND1A,NA,nonsynonymous SNV,"DENND1A:NM_001352965:exon20:c.G1796A:p.G599D,DENND1A:NM_020946:exon21:c.G1763A:p.G588D,DENND1A:NM_001352964:exon23:c.G1946A:p.G649D",D,D,N,T,N,T
chr9,130476502,130476502,G,A,R010_S,PTRH1,Missense_Mutation,NM_001345978,exon4,c.C476T,p.P159L,SNP,SNVindel,exonic,PTRH1,NA,nonsynonymous SNV,"PTRH1:NM_001345978:exon4:c.C476T:p.P159L,PTRH1:NM_001345979:exon4:c.C422T:p.P141L",T,.,N,.,N,T
chr9,130486411,130486411,C,T,R010_S,TTC16,Silent,NM_001317037,exon8,c.C846T,p.Y282Y,SNP,SNVindel,exonic,TTC16,NA,synonymous SNV,"TTC16:NM_001317037:exon8:c.C846T:p.Y282Y,TTC16:NM_144965:exon8:c.C885T:p.Y295Y",NA,NA,NA,NA,NA,NA
chr9,130579482,130579482,C,T,R010_S,ENG,Missense_Mutation,NM_000118,exon13,c.G1687A,p.E563K,SNP,SNVindel,exonic,ENG,NA,nonsynonymous SNV,"ENG:NM_000118:exon13:c.G1687A:p.E563K,ENG:NM_001114753:exon13:c.G1687A:p.E563K,ENG:NM_001278138:exon13:c.G1141A:p.E381K",T,N,N,T,N,T
chr9,130953000,130953000,G,A,R010_S,CIZ1,Missense_Mutation,NM_001131015,exon2,c.C137T,p.P46L,SNP,SNVindel,exonic,CIZ1,NA,nonsynonymous SNV,"CIZ1:NM_001131015:exon2:c.C137T:p.P46L,CIZ1:NM_001131016:exon2:c.C137T:p.P46L,CIZ1:NM_001131017:exon2:c.C137T:p.P46L,CIZ1:NM_001131018:exon2:c.C137T:p.P46L,CIZ1:NM_001257975:exon2:c.C227T:p.P76L,CIZ1:NM_012127:exon2:c.C137T:p.P46L",D,N,D,T,D,T
chr9,131022789,131022789,C,T,R010_S,GOLGA2,Silent,NM_001366246,exon17,c.G1596A,p.E532E,SNP,SNVindel,exonic,GOLGA2,NA,synonymous SNV,"GOLGA2:NM_001366246:exon17:c.G1596A:p.E532E,GOLGA2:NM_004486:exon17:c.G1596A:p.E532E,GOLGA2:NM_001366244:exon18:c.G1677A:p.E559E",NA,NA,NA,NA,NA,NA
chr9,131151654,131151654,G,A,R010_S,URM1,Nonsense_Mutation,NM_001135947,exon4,c.G303A,p.W101X,SNP,SNVindel,exonic,URM1,NA,stopgain,URM1:NM_001135947:exon4:c.G303A:p.W101X,.,.,D,.,.,.
chr9,131198076,131198076,C,T,R010_S,CERCAM,Silent,NM_001286760,exon12,c.C1446T,p.G482G,SNP,SNVindel,exonic,CERCAM,NA,synonymous SNV,"CERCAM:NM_001286760:exon12:c.C1446T:p.G482G,CERCAM:NM_016174:exon12:c.C1680T:p.G560G",NA,NA,NA,NA,NA,NA
chr9,131370169,131370169,C,T,R010_S,SPTAN1,Silent,NM_001195532,exon32,c.C4125T,p.F1375F,SNP,SNVindel,exonic,SPTAN1,NA,synonymous SNV,"SPTAN1:NM_001195532:exon32:c.C4125T:p.F1375F,SPTAN1:NM_001363765:exon32:c.C4125T:p.F1375F,SPTAN1:NM_001130438:exon33:c.C4185T:p.F1395F,SPTAN1:NM_001363759:exon33:c.C4185T:p.F1395F,SPTAN1:NM_003127:exon33:c.C4185T:p.F1395F",NA,NA,NA,NA,NA,NA
chr9,131396602,131396602,G,A,R010_S,WDR34,Silent,NM_052844,exon8,c.C1275T,p.A425A,SNP,SNVindel,exonic,WDR34,NA,synonymous SNV,WDR34:NM_052844:exon8:c.C1275T:p.A425A,NA,NA,NA,NA,NA,NA
chr9,131476375,131476375,G,A,R010_S,PKN3,Silent,NM_001317926,exon10,c.G1287A,p.Q429Q,SNP,SNVindel,exonic,PKN3,NA,synonymous SNV,"PKN3:NM_001317926:exon10:c.G1287A:p.Q429Q,PKN3:NM_013355:exon10:c.G1287A:p.Q429Q",NA,NA,NA,NA,NA,NA
chr9,131513698,131513698,G,A,R010_S,ZER1,Silent,NM_006336,exon6,c.C1032T,p.A344A,SNP,SNVindel,exonic,ZER1,NA,synonymous SNV,ZER1:NM_006336:exon6:c.C1032T:p.A344A,NA,NA,NA,NA,NA,NA
chr9,131584692,131584692,C,T,R010_S,ENDOG,Silent,NM_004435,exon3,c.C697T,p.L233L,SNP,SNVindel,exonic,ENDOG,NA,synonymous SNV,ENDOG:NM_004435:exon3:c.C697T:p.L233L,NA,NA,NA,NA,NA,NA
chr9,131735443,131735443,C,T,R010_S,NUP188,Missense_Mutation,NM_015354,exon12,c.C1118T,p.T373I,SNP,SNVindel,exonic,NUP188,NA,nonsynonymous SNV,NUP188:NM_015354:exon12:c.C1118T:p.T373I,T,D,D,T,N,T
chr9,131750380,131750380,G,A,R010_S,NUP188,Silent,NM_015354,exon24,c.G2448A,p.L816L,SNP,SNVindel,exonic,NUP188,NA,synonymous SNV,NUP188:NM_015354:exon24:c.G2448A:p.L816L,NA,NA,NA,NA,NA,NA
chr9,131784643,131784643,G,A,R010_S,SH3GLB2,Silent,NM_001287045,exon2,c.C123T,p.N41N,SNP,SNVindel,exonic,SH3GLB2,NA,synonymous SNV,"SH3GLB2:NM_001287045:exon2:c.C123T:p.N41N,SH3GLB2:NM_001287046:exon2:c.C123T:p.N41N,SH3GLB2:NM_001369913:exon2:c.C156T:p.N52N,SH3GLB2:NM_001369914:exon2:c.C123T:p.N41N,SH3GLB2:NM_001369915:exon2:c.C123T:p.N41N,SH3GLB2:NM_020145:exon2:c.C123T:p.N41N",NA,NA,NA,NA,NA,NA
chr9,131857792,131857792,G,A,R010_S,CRAT,Silent,NM_000755,exon14,c.C1765T,p.L589L,SNP,SNVindel,exonic,CRAT,NA,synonymous SNV,"CRAT:NM_000755:exon14:c.C1765T:p.L589L,CRAT:NM_001346547:exon14:c.C1693T:p.L565L,CRAT:NM_001346549:exon14:c.C1645T:p.L549L,CRAT:NM_001257363:exon15:c.C1702T:p.L568L,CRAT:NM_001346546:exon15:c.C1768T:p.L590L,CRAT:NM_001346548:exon15:c.C1630T:p.L544L,CRAT:NM_004003:exon15:c.C1702T:p.L568L",NA,NA,NA,NA,NA,NA
chr9,131857888,131857888,G,A,R010_S,CRAT,Missense_Mutation,NM_000755,exon14,c.C1669T,p.P557S,SNP,SNVindel,exonic,CRAT,NA,nonsynonymous SNV,"CRAT:NM_000755:exon14:c.C1669T:p.P557S,CRAT:NM_001346547:exon14:c.C1597T:p.P533S,CRAT:NM_001346549:exon14:c.C1549T:p.P517S,CRAT:NM_001257363:exon15:c.C1606T:p.P536S,CRAT:NM_001346546:exon15:c.C1672T:p.P558S,CRAT:NM_001346548:exon15:c.C1534T:p.P512S,CRAT:NM_004003:exon15:c.C1606T:p.P536S",T,N,D,T,D,T
chr9,132397600,132397600,G,A,R010_S,NTMT1,Missense_Mutation,NM_001286802,exon3,c.G265A,p.D89N,SNP,SNVindel,exonic,NTMT1,NA,nonsynonymous SNV,"NTMT1:NM_001286802:exon3:c.G265A:p.D89N,NTMT1:NM_001286803:exon3:c.G265A:p.D89N,NTMT1:NM_001286796:exon4:c.G529A:p.D177N,NTMT1:NM_001286797:exon4:c.G529A:p.D177N,NTMT1:NM_001286798:exon4:c.G529A:p.D177N,NTMT1:NM_001286799:exon4:c.G529A:p.D177N,NTMT1:NM_014064:exon4:c.G529A:p.D177N",D,D,D,T,D,T
chr9,132581152,132581152,C,T,R010_S,TOR1A,Silent,NM_000113,exon3,c.G492A,p.R164R,SNP,SNVindel,exonic,TOR1A,NA,synonymous SNV,TOR1A:NM_000113:exon3:c.G492A:p.R164R,NA,NA,NA,NA,NA,NA
chr9,133230379,133230379,G,A,R010_S,HMCN2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,HMCN2,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr9,133269830,133269830,C,T,R010_S,HMCN2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,HMCN2,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr9,133278197,133278197,C,T,R010_S,HMCN2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,HMCN2,NA,unknown,UNKNOWN,.,.,.,.,.,T
chr9,134497317,134497317,G,A,R010_S,RAPGEF1,Nonsense_Mutation,NM_001304275,exon11,c.C1771T,p.Q591X,SNP,SNVindel,exonic,RAPGEF1,NA,stopgain,"RAPGEF1:NM_001304275:exon11:c.C1771T:p.Q591X,RAPGEF1:NM_005312:exon11:c.C1720T:p.Q574X,RAPGEF1:NM_198679:exon11:c.C1774T:p.Q592X",.,D,A,.,.,.
chr9,134501489,134501489,C,T,R010_S,RAPGEF1,Missense_Mutation,NM_001304275,exon10,c.G1522A,p.E508K,SNP,SNVindel,exonic,RAPGEF1,NA,nonsynonymous SNV,"RAPGEF1:NM_001304275:exon10:c.G1522A:p.E508K,RAPGEF1:NM_005312:exon10:c.G1471A:p.E491K,RAPGEF1:NM_198679:exon10:c.G1525A:p.E509K",D,N,D,T,N,T
chr9,135277091,135277091,C,T,R010_S,TTF1,Missense_Mutation,NM_007344,exon2,c.G1118A,p.S373N,SNP,SNVindel,exonic,TTF1,NA,nonsynonymous SNV,TTF1:NM_007344:exon2:c.G1118A:p.S373N,T,N,N,T,N,T
chr9,135277406,135277406,C,T,R010_S,TTF1,Missense_Mutation,NM_007344,exon2,c.G803A,p.G268E,SNP,SNVindel,exonic,TTF1,NA,nonsynonymous SNV,TTF1:NM_007344:exon2:c.G803A:p.G268E,T,.,N,T,N,T
chr9,135458627,135458627,C,T,R010_S,BARHL1,Missense_Mutation,NM_020064,exon1,c.C443T,p.A148V,SNP,SNVindel,exonic,BARHL1,NA,nonsynonymous SNV,BARHL1:NM_020064:exon1:c.C443T:p.A148V,T,N,D,D,N,T
chr9,135762931,135762931,G,A,R010_S,SPACA9,Missense_Mutation,NM_001316897,exon3,c.G320A,p.S107N,SNP,SNVindel,exonic,SPACA9,NA,nonsynonymous SNV,"SPACA9:NM_001316897:exon3:c.G320A:p.S107N,SPACA9:NM_001316898:exon3:c.G320A:p.S107N,SPACA9:NM_001316900:exon3:c.G320A:p.S107N,SPACA9:NM_018956:exon3:c.G320A:p.S107N",T,D,D,T,N,T
chr9,135865262,135865262,C,T,R010_S,GFI1B,Missense_Mutation,NM_001135031,exon5,c.C644T,p.S215F,SNP,SNVindel,exonic,GFI1B,NA,nonsynonymous SNV,"GFI1B:NM_001135031:exon5:c.C644T:p.S215F,GFI1B:NM_004188:exon10:c.C782T:p.S261F",D,D,D,T,D,T
chr9,136905210,136905210,G,A,R010_S,BRD3,Missense_Mutation,NM_007371,exon9,c.C1589T,p.A530V,SNP,SNVindel,exonic,BRD3,NA,nonsynonymous SNV,BRD3:NM_007371:exon9:c.C1589T:p.A530V,T,N,D,T,N,T
chr9,136906911,136906911,C,T,R010_S,BRD3,Missense_Mutation,NM_007371,exon8,c.G1378A,p.A460T,SNP,SNVindel,exonic,BRD3,NA,nonsynonymous SNV,BRD3:NM_007371:exon8:c.G1378A:p.A460T,T,D,D,T,D,T
chr9,136910542,136910542,C,T,R010_S,BRD3,Missense_Mutation,NM_007371,exon7,c.G1088A,p.R363K,SNP,SNVindel,exonic,BRD3,NA,nonsynonymous SNV,BRD3:NM_007371:exon7:c.G1088A:p.R363K,T,N,D,T,N,T
chr9,136913415,136913415,G,A,R010_S,BRD3,Silent,NM_007371,exon6,c.C876T,p.D292D,SNP,SNVindel,exonic,BRD3,NA,synonymous SNV,BRD3:NM_007371:exon6:c.C876T:p.D292D,NA,NA,NA,NA,NA,NA
chr9,138774901,138774901,C,T,R010_S,CAMSAP1,Missense_Mutation,NM_015447,exon2,c.G184A,p.D62N,SNP,SNVindel,exonic,CAMSAP1,NA,nonsynonymous SNV,CAMSAP1:NM_015447:exon2:c.G184A:p.D62N,D,U,D,T,D,T
chr9,139089237,139089237,C,T,R010_S,LHX3,Silent,NM_001363746,exon6,c.G1095A,p.G365G,SNP,SNVindel,exonic,LHX3,NA,synonymous SNV,"LHX3:NM_001363746:exon6:c.G1095A:p.G365G,LHX3:NM_014564:exon6:c.G1143A:p.G381G,LHX3:NM_178138:exon6:c.G1128A:p.G376G",NA,NA,NA,NA,NA,NA
chr9,139100670,139100670,C,T,R010_S,QSOX2,Silent,NM_181701,exon12,c.G2001A,p.L667L,SNP,SNVindel,exonic,QSOX2,NA,synonymous SNV,QSOX2:NM_181701:exon12:c.G2001A:p.L667L,NA,NA,NA,NA,NA,NA
chr9,139100762,139100762,C,T,R010_S,QSOX2,Missense_Mutation,NM_181701,exon12,c.G1909A,p.D637N,SNP,SNVindel,exonic,QSOX2,NA,nonsynonymous SNV,QSOX2:NM_181701:exon12:c.G1909A:p.D637N,T,N,N,T,N,T
chr9,139108521,139108521,C,T,R010_S,QSOX2,Silent,NM_181701,exon9,c.G1134A,p.Q378Q,SNP,SNVindel,exonic,QSOX2,NA,synonymous SNV,QSOX2:NM_181701:exon9:c.G1134A:p.Q378Q,NA,NA,NA,NA,NA,NA
chr9,139278484,139278484,C,T,R010_S,SNAPC4,Missense_Mutation,NM_003086,exon14,c.G1421A,p.G474D,SNP,SNVindel,exonic,SNAPC4,NA,nonsynonymous SNV,SNAPC4:NM_003086:exon14:c.G1421A:p.G474D,D,D,D,T,D,T
chr9,139326357,139326357,C,T,R010_S,INPP5E,Missense_Mutation,NM_001318502,exon7,c.G1465A,p.D489N,SNP,SNVindel,exonic,INPP5E,NA,nonsynonymous SNV,"INPP5E:NM_001318502:exon7:c.G1465A:p.D489N,INPP5E:NM_019892:exon7:c.G1468A:p.D490N",T,N,D,D,N,D
chr9,139400106,139400106,G,A,R010_S,NOTCH1,Silent,NM_017617,exon25,c.C4242T,p.C1414C,SNP,SNVindel,exonic,NOTCH1,NA,synonymous SNV,NOTCH1:NM_017617:exon25:c.C4242T:p.C1414C,NA,NA,NA,NA,NA,NA
chr9,139407875,139407875,G,A,R010_S,NOTCH1,Silent,NM_017617,exon14,c.C2322T,p.G774G,SNP,SNVindel,exonic,NOTCH1,NA,synonymous SNV,NOTCH1:NM_017617:exon14:c.C2322T:p.G774G,NA,NA,NA,NA,NA,NA
chr9,139616675,139616675,G,A,R010_S,DIPK1B,Silent,NM_152421,exon4,c.G405A,p.R135R,SNP,SNVindel,exonic,DIPK1B,NA,synonymous SNV,DIPK1B:NM_152421:exon4:c.G405A:p.R135R,NA,NA,NA,NA,NA,NA
chr9,139739778,139739778,C,T,R010_S,AJM1,Silent,NM_001080482,exon3,c.C912T,p.A304A,SNP,SNVindel,exonic,AJM1,NA,synonymous SNV,AJM1:NM_001080482:exon3:c.C912T:p.A304A,NA,NA,NA,NA,NA,NA
chr9,139757440,139757440,C,T,R010_S,EDF1,Silent,NM_001281297,exon4,c.G303A,p.E101E,SNP,SNVindel,exonic,EDF1,NA,synonymous SNV,"EDF1:NM_001281297:exon4:c.G303A:p.E101E,EDF1:NM_001281298:exon4:c.G240A:p.E80E,EDF1:NM_001281299:exon4:c.G249A:p.E83E,EDF1:NM_003792:exon4:c.G303A:p.E101E,EDF1:NM_153200:exon4:c.G303A:p.E101E",NA,NA,NA,NA,NA,NA
chr9,139837224,139837224,G,A,R010_S,FBXW5,Silent,NM_018998,exon4,c.C523T,p.L175L,SNP,SNVindel,exonic,FBXW5,NA,synonymous SNV,FBXW5:NM_018998:exon4:c.C523T:p.L175L,NA,NA,NA,NA,NA,NA
chr9,139915168,139915168,G,A,R010_S,ABCA2,Missense_Mutation,NM_001606,exon9,c.C1243T,p.P415S,SNP,SNVindel,exonic,ABCA2,NA,nonsynonymous SNV,"ABCA2:NM_001606:exon9:c.C1243T:p.P415S,ABCA2:NM_212533:exon9:c.C1333T:p.P445S",D,U,D,D,D,D
chr9,139943405,139943405,G,A,R010_S,ENTPD2,Silent,NM_001246,exon8,c.C1203T,p.I401I,SNP,SNVindel,exonic,ENTPD2,NA,synonymous SNV,"ENTPD2:NM_001246:exon8:c.C1203T:p.I401I,ENTPD2:NM_203468:exon8:c.C1272T:p.I424I",NA,NA,NA,NA,NA,NA
chr9,140063912,140063912,C,T,R010_S,LRRC26,Missense_Mutation,NM_001013653,exon1,c.G484A,p.A162T,SNP,SNVindel,exonic,LRRC26,NA,nonsynonymous SNV,LRRC26:NM_001013653:exon1:c.G484A:p.A162T,T,N,N,T,N,T
chr9,140147229,140147229,C,T,R010_S,STPG3,Missense_Mutation,NM_001004353,exon5,c.C608T,p.P203L,SNP,SNVindel,exonic,STPG3,NA,nonsynonymous SNV,"STPG3:NM_001004353:exon5:c.C608T:p.P203L,STPG3:NM_001256699:exon5:c.C608T:p.P203L",T,N,N,T,N,T
chr10,287965,287965,C,T,R010_S,ZMYND11,Missense_Mutation,NM_001370122,exon7,c.C530T,p.P177L,SNP,SNVindel,exonic,ZMYND11,NA,nonsynonymous SNV,"ZMYND11:NM_001370122:exon7:c.C530T:p.P177L,ZMYND11:NM_001370124:exon7:c.C365T:p.P122L,ZMYND11:NM_001202465:exon8:c.C581T:p.P194L,ZMYND11:NM_001202467:exon8:c.C674T:p.P225L,ZMYND11:NM_001370110:exon8:c.C581T:p.P194L,ZMYND11:NM_001370120:exon8:c.C608T:p.P203L,ZMYND11:NM_001370121:exon8:c.C554T:p.P185L,ZMYND11:NM_001370123:exon8:c.C479T:p.P160L,ZMYND11:NM_001202464:exon9:c.C674T:p.P225L,ZMYND11:NM_001202466:exon9:c.C671T:p.P224L,ZMYND11:NM_001202468:exon9:c.C836T:p.P279L,ZMYND11:NM_001370103:exon9:c.C674T:p.P225L,ZMYND11:NM_001370104:exon9:c.C674T:p.P225L,ZMYND11:NM_001370105:exon9:c.C674T:p.P225L,ZMYND11:NM_001370106:exon9:c.C674T:p.P225L,ZMYND11:NM_001370107:exon9:c.C674T:p.P225L,ZMYND11:NM_001370108:exon9:c.C674T:p.P225L,ZMYND11:NM_001370109:exon9:c.C674T:p.P225L,ZMYND11:NM_001370111:exon9:c.C671T:p.P224L,ZMYND11:NM_001370113:exon9:c.C743T:p.P248L,ZMYND11:NM_001370114:exon9:c.C743T:p.P248L,ZMYND11:NM_001370116:exon9:c.C770T:p.P257L,ZMYND11:NM_001370118:exon9:c.C716T:p.P239L,ZMYND11:NM_001370119:exon9:c.C758T:p.P253L,ZMYND11:NM_001370097:exon10:c.C836T:p.P279L,ZMYND11:NM_001370098:exon10:c.C836T:p.P279L,ZMYND11:NM_001370099:exon10:c.C836T:p.P279L,ZMYND11:NM_001370100:exon10:c.C836T:p.P279L,ZMYND11:NM_001370101:exon10:c.C836T:p.P279L,ZMYND11:NM_001370102:exon10:c.C836T:p.P279L,ZMYND11:NM_001370115:exon10:c.C833T:p.P278L,ZMYND11:NM_001370117:exon10:c.C836T:p.P279L,ZMYND11:NM_006624:exon10:c.C836T:p.P279L,ZMYND11:NM_212479:exon10:c.C833T:p.P278L,ZMYND11:NM_001330057:exon11:c.C785T:p.P262L,ZMYND11:NM_001370112:exon11:c.C785T:p.P262L",D,D,.,T,D,T
chr10,415475,415475,G,C,R010_S,DIP2C,Missense_Mutation,NM_014974,exon18,c.C2090G,p.S697C,SNP,SNVindel,exonic,DIP2C,NA,nonsynonymous SNV,DIP2C:NM_014974:exon18:c.C2090G:p.S697C,D,D,D,T,D,T
chr10,3199217,3199217,C,T,R010_S,PITRM1,Missense_Mutation,NM_001242309,exon12,c.G1291A,p.E431K,SNP,SNVindel,exonic,PITRM1,NA,nonsynonymous SNV,"PITRM1:NM_001242309:exon12:c.G1291A:p.E431K,PITRM1:NM_001242307:exon13:c.G1387A:p.E463K,PITRM1:NM_001347725:exon13:c.G1387A:p.E463K,PITRM1:NM_001347726:exon13:c.G772A:p.E258K,PITRM1:NM_001347727:exon13:c.G772A:p.E258K,PITRM1:NM_001347728:exon13:c.G82A:p.E28K,PITRM1:NM_001347729:exon13:c.G1363A:p.E455K,PITRM1:NM_001347730:exon13:c.G1363A:p.E455K,PITRM1:NM_014889:exon13:c.G1387A:p.E463K",T,D,D,T,N,T
chr10,3212320,3212320,C,T,R010_S,PITRM1,Silent,NM_001242307,exon2,c.G135A,p.K45K,SNP,SNVindel,exonic,PITRM1,NA,synonymous SNV,"PITRM1:NM_001242307:exon2:c.G135A:p.K45K,PITRM1:NM_001347725:exon2:c.G135A:p.K45K,PITRM1:NM_001347729:exon2:c.G111A:p.K37K,PITRM1:NM_001347730:exon2:c.G111A:p.K37K,PITRM1:NM_014889:exon2:c.G135A:p.K45K",NA,NA,NA,NA,NA,NA
chr10,5791549,5791549,G,A,R010_S,TASOR2,Silent,NM_001321785,exon15,c.G5922A,p.R1974R,SNP,SNVindel,exonic,TASOR2,NA,synonymous SNV,"TASOR2:NM_001321785:exon15:c.G5922A:p.R1974R,TASOR2:NM_017782:exon15:c.G6165A:p.R2055R,TASOR2:NM_001321783:exon16:c.G6165A:p.R2055R,TASOR2:NM_001321784:exon16:c.G6165A:p.R2055R",NA,NA,NA,NA,NA,NA
chr10,8055710,8055710,G,A,R010_S,TAF3,Missense_Mutation,NM_031923,exon6,c.G2585A,p.G862D,SNP,SNVindel,exonic,TAF3,NA,nonsynonymous SNV,TAF3:NM_031923:exon6:c.G2585A:p.G862D,D,D,D,D,D,D
chr10,8100439,8100439,C,T,R010_S,GATA3,Missense_Mutation,NM_001002295,exon3,c.C413T,p.S138F,SNP,SNVindel,exonic,GATA3,NA,nonsynonymous SNV,"GATA3:NM_001002295:exon3:c.C413T:p.S138F,GATA3:NM_002051:exon3:c.C413T:p.S138F",D,D,D,D,D,D
chr10,15256342,15256342,G,A,R010_S,FAM171A1,Silent,NM_001010924,exon8,c.C1245T,p.L415L,SNP,SNVindel,exonic,FAM171A1,NA,synonymous SNV,FAM171A1:NM_001010924:exon8:c.C1245T:p.L415L,NA,NA,NA,NA,NA,NA
chr10,28908529,28908529,G,A,R010_S,WAC,Missense_Mutation,NM_100486,exon13,c.G1629A,p.M543I,SNP,SNVindel,exonic,WAC,NA,nonsynonymous SNV,"WAC:NM_100486:exon13:c.G1629A:p.M543I,WAC:NM_016628:exon14:c.G1938A:p.M646I,WAC:NM_100264:exon14:c.G1803A:p.M601I",D,N,D,T,D,T
chr10,32326284,32326284,C,T,R010_S,KIF5B,Silent,NM_004521,exon8,c.G609A,p.R203R,SNP,SNVindel,exonic,KIF5B,NA,synonymous SNV,KIF5B:NM_004521:exon8:c.G609A:p.R203R,NA,NA,NA,NA,NA,NA
chr10,35930165,35930165,C,T,R010_S,FZD8,Missense_Mutation,NM_031866,exon1,c.G193A,p.A65T,SNP,SNVindel,exonic,FZD8,NA,nonsynonymous SNV,FZD8:NM_031866:exon1:c.G193A:p.A65T,D,U,D,T,D,D
chr10,38344902,38344902,C,T,R010_S,ZNF33A,Missense_Mutation,NM_001278170,exon4,c.C1868T,p.A623V,SNP,SNVindel,exonic,ZNF33A,NA,nonsynonymous SNV,"ZNF33A:NM_001278170:exon4:c.C1868T:p.A623V,ZNF33A:NM_001324178:exon4:c.C1871T:p.A624V,ZNF33A:NM_001278177:exon5:c.C1913T:p.A638V,ZNF33A:NM_001278178:exon5:c.C1514T:p.A505V,ZNF33A:NM_001324176:exon5:c.C1514T:p.A505V,ZNF33A:NM_006954:exon5:c.C1850T:p.A617V,ZNF33A:NM_006974:exon5:c.C1847T:p.A616V,ZNF33A:NM_001278171:exon6:c.C1514T:p.A505V,ZNF33A:NM_001278173:exon6:c.C1904T:p.A635V,ZNF33A:NM_001278174:exon6:c.C1514T:p.A505V,ZNF33A:NM_001278175:exon6:c.C1616T:p.A539V,ZNF33A:NM_001278176:exon6:c.C1721T:p.A574V,ZNF33A:NM_001278179:exon6:c.C1514T:p.A505V,ZNF33A:NM_001324175:exon6:c.C1514T:p.A505V,ZNF33A:NM_001324177:exon6:c.C1514T:p.A505V",D,N,N,T,N,T
chr10,43292197,43292197,C,T,R010_S,BMS1,Missense_Mutation,NM_014753,exon10,c.C1505T,p.A502V,SNP,SNVindel,exonic,BMS1,NA,nonsynonymous SNV,BMS1:NM_014753:exon10:c.C1505T:p.A502V,D,D,D,T,N,T
chr10,43597791,43597791,C,T,R010_S,RET,Silent,NM_020630,exon3,c.C339T,p.N113N,SNP,SNVindel,exonic,RET,NA,synonymous SNV,"RET:NM_020630:exon3:c.C339T:p.N113N,RET:NM_020975:exon3:c.C339T:p.N113N",NA,NA,NA,NA,NA,NA
chr10,44112122,44112122,G,A,R010_S,ZNF485,Missense_Mutation,NM_001318143,exon3,c.G358A,p.E120K,SNP,SNVindel,exonic,ZNF485,NA,nonsynonymous SNV,"ZNF485:NM_001318143:exon3:c.G358A:p.E120K,ZNF485:NM_001318142:exon4:c.G358A:p.E120K,ZNF485:NM_001318140:exon5:c.G631A:p.E211K,ZNF485:NM_001318141:exon5:c.G631A:p.E211K,ZNF485:NM_145312:exon5:c.G631A:p.E211K",T,.,D,T,D,T
chr10,45939676,45939676,G,A,R010_S,ALOX5,Missense_Mutation,NM_000698,exon13,c.G1787A,p.G596D,SNP,SNVindel,exonic,ALOX5,NA,nonsynonymous SNV,"ALOX5:NM_000698:exon13:c.G1787A:p.G596D,ALOX5:NM_001256153:exon13:c.G1691A:p.G564D,ALOX5:NM_001320861:exon13:c.G1700A:p.G567D,ALOX5:NM_001320862:exon13:c.G1352A:p.G451D",T,D,D,D,N,D
chr10,46222901,46222901,G,A,R010_S,WASHC2C,Missense_Mutation,NM_001169106,exon2,c.G40A,p.A14T,SNP,SNVindel,exonic,WASHC2C,NA,nonsynonymous SNV,"WASHC2C:NM_001169106:exon2:c.G40A:p.A14T,WASHC2C:NM_001169107:exon2:c.G40A:p.A14T,WASHC2C:NM_001330074:exon2:c.G40A:p.A14T,WASHC2C:NM_001367393:exon2:c.G37A:p.A13T,WASHC2C:NM_001367394:exon2:c.G40A:p.A14T,WASHC2C:NM_001367395:exon2:c.G40A:p.A14T,WASHC2C:NM_001367396:exon2:c.G40A:p.A14T,WASHC2C:NM_001367397:exon2:c.G40A:p.A14T,WASHC2C:NM_001367400:exon2:c.G40A:p.A14T,WASHC2C:NM_001367401:exon2:c.G40A:p.A14T,WASHC2C:NM_001367403:exon2:c.G40A:p.A14T,WASHC2C:NM_001367404:exon2:c.G40A:p.A14T,WASHC2C:NM_001367408:exon2:c.G40A:p.A14T,WASHC2C:NM_001367415:exon2:c.G40A:p.A14T,WASHC2C:NM_001367416:exon2:c.G40A:p.A14T,WASHC2C:NM_015262:exon2:c.G40A:p.A14T",D,N,N,.,N,T
chr10,47086929,47086929,G,A,R010_S,NPY4R,Missense_Mutation,NM_001278794,exon2,c.G146A,p.S49N,SNP,SNVindel,exonic,NPY4R;NPY4R2,NA,nonsynonymous SNV,"NPY4R:NM_001278794:exon2:c.G146A:p.S49N,NPY4R2:NM_001278795:exon2:c.G146A:p.S49N,NPY4R:NM_005972:exon3:c.G146A:p.S49N",.,.,.,.,.,.
chr10,48370926,48370926,C,T,R010_S,ZNF488,Missense_Mutation,NM_153034,exon2,c.C394T,p.P132S,SNP,SNVindel,exonic,ZNF488,NA,nonsynonymous SNV,"ZNF488:NM_153034:exon2:c.C394T:p.P132S,ZNF488:NM_001346933:exon3:c.C394T:p.P132S,ZNF488:NM_001346934:exon3:c.C394T:p.P132S,ZNF488:NM_001346935:exon3:c.C394T:p.P132S,ZNF488:NM_001346936:exon3:c.C394T:p.P132S,ZNF488:NM_001346932:exon4:c.C394T:p.P132S",.,.,.,.,.,.
chr10,49658445,49658445,C,T,R010_S,ARHGAP22,Missense_Mutation,NM_001256026,exon7,c.G1457A,p.G486D,SNP,SNVindel,exonic,ARHGAP22,NA,nonsynonymous SNV,"ARHGAP22:NM_001256026:exon7:c.G1457A:p.G486D,ARHGAP22:NM_001347735:exon8:c.G1598A:p.G533D,ARHGAP22:NM_001256024:exon9:c.G1775A:p.G592D,ARHGAP22:NM_001256025:exon9:c.G1745A:p.G582D,ARHGAP22:NM_021226:exon9:c.G1727A:p.G576D,ARHGAP22:NM_001347738:exon10:c.G1745A:p.G582D",T,N,N,T,N,T
chr10,50723401,50723401,G,A,R010_S,ERCC6,Missense_Mutation,NM_170753,exon2,c.C1760T,p.S587F,SNP,SNVindel,exonic,ERCC6;PGBD3,NA,nonsynonymous SNV,"PGBD3:NM_170753:exon2:c.C1760T:p.S587F,ERCC6:NM_001277058:exon6:c.C3164T:p.S1055F,ERCC6:NM_001277059:exon6:c.C3164T:p.S1055F",T,.,N,D,N,T
chr10,50952096,50952096,G,A,R010_S,OGDHL,Missense_Mutation,NM_001143997,exon12,c.C1178T,p.T393I,SNP,SNVindel,exonic,OGDHL,NA,nonsynonymous SNV,"OGDHL:NM_001143997:exon12:c.C1178T:p.T393I,OGDHL:NM_001347822:exon12:c.C1178T:p.T393I,OGDHL:NM_001347826:exon12:c.C608T:p.T203I,OGDHL:NM_001143996:exon13:c.C1634T:p.T545I,OGDHL:NM_001347820:exon13:c.C1634T:p.T545I,OGDHL:NM_001347823:exon13:c.C1625T:p.T542I,OGDHL:NM_001347824:exon13:c.C1625T:p.T542I,OGDHL:NM_001347825:exon13:c.C998T:p.T333I,OGDHL:NM_001347819:exon14:c.C1805T:p.T602I,OGDHL:NM_001347821:exon14:c.C1178T:p.T393I,OGDHL:NM_018245:exon14:c.C1805T:p.T602I",T,N,N,T,N,T
chr10,53458898,53458898,C,T,R010_S,CSTF2T,Missense_Mutation,NM_015235,exon1,c.G412A,p.E138K,SNP,SNVindel,exonic,CSTF2T,NA,nonsynonymous SNV,CSTF2T:NM_015235:exon1:c.G412A:p.E138K,D,D,D,T,D,T
chr10,60562981,60562981,G,A,R010_S,BICC1,Silent,NM_001080512,exon15,c.G2160A,p.R720R,SNP,SNVindel,exonic,BICC1,NA,synonymous SNV,BICC1:NM_001080512:exon15:c.G2160A:p.R720R,NA,NA,NA,NA,NA,NA
chr10,70333795,70333795,C,T,R010_S,TET1,Missense_Mutation,NM_030625,exon2,c.C1700T,p.P567L,SNP,SNVindel,exonic,TET1,NA,nonsynonymous SNV,TET1:NM_030625:exon2:c.C1700T:p.P567L,T,N,N,T,N,T
chr10,71142243,71142243,G,A,R010_S,HK1,Silent,NM_001322367,exon9,c.G1170A,p.Q390Q,SNP,SNVindel,exonic,HK1,NA,synonymous SNV,"HK1:NM_001322367:exon9:c.G1170A:p.Q390Q,HK1:NM_000188:exon10:c.G1266A:p.Q422Q,HK1:NM_001322366:exon10:c.G1182A:p.Q394Q,HK1:NM_033496:exon10:c.G1263A:p.Q421Q,HK1:NM_001322364:exon12:c.G1278A:p.Q426Q,HK1:NM_001358263:exon13:c.G1278A:p.Q426Q,HK1:NM_033497:exon13:c.G1278A:p.Q426Q,HK1:NM_033498:exon13:c.G1278A:p.Q426Q,HK1:NM_033500:exon14:c.G1230A:p.Q410Q,HK1:NM_001322365:exon15:c.G1371A:p.Q457Q",NA,NA,NA,NA,NA,NA
chr10,73490319,73490319,G,A,R010_S,CDH23,Missense_Mutation,NM_001171930,exon30,c.G3673A,p.G1225R,SNP,SNVindel,exonic,CDH23,NA,nonsynonymous SNV,"CDH23:NM_001171930:exon30:c.G3673A:p.G1225R,CDH23:NM_022124:exon30:c.G3673A:p.G1225R",.,D,D,.,.,D
chr10,73588703,73588703,G,A,R010_S,PSAP,Silent,NM_001042465,exon5,c.C507T,p.A169A,SNP,SNVindel,exonic,PSAP,NA,synonymous SNV,"PSAP:NM_001042465:exon5:c.C507T:p.A169A,PSAP:NM_001042466:exon5:c.C507T:p.A169A,PSAP:NM_002778:exon5:c.C507T:p.A169A",NA,NA,NA,NA,NA,NA
chr10,73847997,73847997,C,T,R010_S,SPOCK2,Silent,NM_001244950,exon1,c.G90A,p.K30K,SNP,SNVindel,exonic,SPOCK2,NA,synonymous SNV,"SPOCK2:NM_001244950:exon1:c.G90A:p.K30K,SPOCK2:NM_001134434:exon2:c.G90A:p.K30K,SPOCK2:NM_014767:exon2:c.G90A:p.K30K",NA,NA,NA,NA,NA,NA
chr10,74804799,74804799,G,A,R010_S,P4HA1,Missense_Mutation,NM_001017962,exon9,c.C1088T,p.A363V,SNP,SNVindel,exonic,P4HA1,NA,nonsynonymous SNV,"P4HA1:NM_001017962:exon9:c.C1088T:p.A363V,P4HA1:NM_001142595:exon10:c.C1088T:p.A363V",D,.,D,T,D,D
chr10,75552568,75552568,G,A,R010_S,ZSWIM8,Silent,NM_001242487,exon10,c.G2271A,p.L757L,SNP,SNVindel,exonic,ZSWIM8,NA,synonymous SNV,"ZSWIM8:NM_001242487:exon10:c.G2271A:p.L757L,ZSWIM8:NM_001242488:exon10:c.G2271A:p.L757L,ZSWIM8:NM_001367799:exon10:c.G2271A:p.L757L,ZSWIM8:NM_015037:exon10:c.G2271A:p.L757L",NA,NA,NA,NA,NA,NA
chr10,75602292,75602292,G,A,R010_S,CAMK2G,Missense_Mutation,NM_001367537,exon9,c.C515T,p.S172F,SNP,SNVindel,exonic,CAMK2G,NA,nonsynonymous SNV,"CAMK2G:NM_001367537:exon9:c.C515T:p.S172F,CAMK2G:NM_001367538:exon9:c.C515T:p.S172F,CAMK2G:NM_001367524:exon10:c.C581T:p.S194F,CAMK2G:NM_001367539:exon10:c.C581T:p.S194F,CAMK2G:NM_001367540:exon10:c.C161T:p.S54F,CAMK2G:NM_001204492:exon11:c.C827T:p.S276F,CAMK2G:NM_001222:exon11:c.C827T:p.S276F,CAMK2G:NM_001320898:exon11:c.C827T:p.S276F,CAMK2G:NM_001367514:exon11:c.C803T:p.S268F,CAMK2G:NM_001367516:exon11:c.C827T:p.S276F,CAMK2G:NM_001367517:exon11:c.C827T:p.S276F,CAMK2G:NM_001367518:exon11:c.C827T:p.S276F,CAMK2G:NM_001367519:exon11:c.C827T:p.S276F,CAMK2G:NM_001367520:exon11:c.C827T:p.S276F,CAMK2G:NM_001367521:exon11:c.C827T:p.S276F,CAMK2G:NM_001367522:exon11:c.C827T:p.S276F,CAMK2G:NM_001367523:exon11:c.C827T:p.S276F,CAMK2G:NM_001367525:exon11:c.C803T:p.S268F,CAMK2G:NM_001367526:exon11:c.C827T:p.S276F,CAMK2G:NM_001367527:exon11:c.C827T:p.S276F,CAMK2G:NM_001367528:exon11:c.C827T:p.S276F,CAMK2G:NM_001367529:exon11:c.C827T:p.S276F,CAMK2G:NM_001367530:exon11:c.C827T:p.S276F,CAMK2G:NM_001367531:exon11:c.C827T:p.S276F,CAMK2G:NM_001367532:exon11:c.C803T:p.S268F,CAMK2G:NM_001367533:exon11:c.C827T:p.S276F,CAMK2G:NM_001367534:exon11:c.C827T:p.S276F,CAMK2G:NM_001367535:exon11:c.C827T:p.S276F,CAMK2G:NM_001367536:exon11:c.C827T:p.S276F,CAMK2G:NM_001367541:exon11:c.C827T:p.S276F,CAMK2G:NM_001367543:exon11:c.C827T:p.S276F,CAMK2G:NM_001367544:exon11:c.C827T:p.S276F,CAMK2G:NM_001367545:exon11:c.C827T:p.S276F,CAMK2G:NM_001367546:exon11:c.C827T:p.S276F,CAMK2G:NM_001367547:exon11:c.C827T:p.S276F,CAMK2G:NM_001367548:exon11:c.C827T:p.S276F,CAMK2G:NM_172169:exon11:c.C827T:p.S276F,CAMK2G:NM_172170:exon11:c.C827T:p.S276F,CAMK2G:NM_172171:exon11:c.C827T:p.S276F,CAMK2G:NM_172173:exon11:c.C827T:p.S276F,CAMK2G:NM_001367542:exon12:c.C74T:p.S25F",D,D,D,T,D,D
chr10,80975929,80975929,G,A,R010_S,ZMIZ1,Missense_Mutation,NM_020338,exon7,c.G178A,p.V60I,SNP,SNVindel,exonic,ZMIZ1,NA,nonsynonymous SNV,ZMIZ1:NM_020338:exon7:c.G178A:p.V60I,D,N,D,T,N,T
chr10,88259529,88259529,G,A,R010_S,WAPL,Missense_Mutation,NM_001318328,exon3,c.C1471T,p.P491S,SNP,SNVindel,exonic,WAPL,NA,nonsynonymous SNV,"WAPL:NM_001318328:exon3:c.C1471T:p.P491S,WAPL:NM_015045:exon3:c.C1471T:p.P491S",T,N,D,T,N,T
chr10,91178020,91178020,G,A,R010_S,IFIT5,Missense_Mutation,NM_012420,exon2,c.G1064A,p.S355N,SNP,SNVindel,exonic,IFIT5,NA,nonsynonymous SNV,IFIT5:NM_012420:exon2:c.G1064A:p.S355N,T,N,N,T,N,T
chr10,93602119,93602119,G,A,R010_S,TNKS2,Missense_Mutation,NM_025235,exon16,c.G2030A,p.G677D,SNP,SNVindel,exonic,TNKS2,NA,nonsynonymous SNV,TNKS2:NM_025235:exon16:c.G2030A:p.G677D,D,D,D,T,D,D
chr10,94833759,94833759,C,T,R010_S,CYP26A1,Missense_Mutation,NM_000783,exon1,c.C68T,p.A23V,SNP,SNVindel,exonic,CYP26A1,NA,nonsynonymous SNV,CYP26A1:NM_000783:exon1:c.C68T:p.A23V,T,D,D,T,N,T
chr10,95168664,95168664,G,A,R010_S,MYOF,Silent,NM_013451,exon7,c.C609T,p.V203V,SNP,SNVindel,exonic,MYOF,NA,synonymous SNV,"MYOF:NM_013451:exon7:c.C609T:p.V203V,MYOF:NM_133337:exon7:c.C609T:p.V203V",NA,NA,NA,NA,NA,NA
chr10,96269856,96269856,G,A,R010_S,TBC1D12,Missense_Mutation,NM_015188,exon8,c.G1609A,p.V537I,SNP,SNVindel,exonic,TBC1D12,NA,nonsynonymous SNV,TBC1D12:NM_015188:exon8:c.G1609A:p.V537I,T,N,N,T,N,T
chr10,98079058,98079058,C,T,R010_S,DNTT,Missense_Mutation,NM_001017520,exon3,c.C418T,p.P140S,SNP,SNVindel,exonic,DNTT,NA,nonsynonymous SNV,"DNTT:NM_001017520:exon3:c.C418T:p.P140S,DNTT:NM_004088:exon3:c.C418T:p.P140S",T,N,N,T,N,T
chr10,101090217,101090217,G,A,R010_S,CNNM1,Missense_Mutation,NM_001345887,exon1,c.G1073A,p.S358N,SNP,SNVindel,exonic,CNNM1,NA,nonsynonymous SNV,"CNNM1:NM_001345887:exon1:c.G1073A:p.S358N,CNNM1:NM_001345888:exon1:c.G1073A:p.S358N,CNNM1:NM_001345889:exon1:c.G1073A:p.S358N,CNNM1:NM_020348:exon1:c.G1073A:p.S358N",D,D,D,D,N,D
chr10,101295083,101295083,G,A,R010_S,NKX2-3,Missense_Mutation,NM_145285,exon2,c.G700A,p.D234N,SNP,SNVindel,exonic,NKX2-3,NA,nonsynonymous SNV,NKX2-3:NM_145285:exon2:c.G700A:p.D234N,D,D,D,T,D,T
chr10,102286782,102286782,G,A,R010_S,NDUFB8,Missense_Mutation,NM_001284367,exon3,c.C262T,p.P88S,SNP,SNVindel,exonic,NDUFB8,NA,nonsynonymous SNV,"NDUFB8:NM_001284367:exon3:c.C262T:p.P88S,NDUFB8:NM_001284368:exon3:c.C169T:p.P57S,NDUFB8:NM_005004:exon3:c.C262T:p.P88S",T,D,D,.,D,D
chr10,102822814,102822814,G,A,R010_S,KAZALD1,Silent,NM_030929,exon2,c.G465A,p.R155R,SNP,SNVindel,exonic,KAZALD1,NA,synonymous SNV,KAZALD1:NM_030929:exon2:c.G465A:p.R155R,NA,NA,NA,NA,NA,NA
chr10,103826170,103826170,G,A,R010_S,HPS6,Silent,NM_024747,exon1,c.G939A,p.G313G,SNP,SNVindel,exonic,HPS6,NA,synonymous SNV,HPS6:NM_024747:exon1:c.G939A:p.G313G,NA,NA,NA,NA,NA,NA
chr10,103870645,103870645,C,T,R010_S,LDB1,Silent,NM_001113407,exon5,c.G333A,p.E111E,SNP,SNVindel,exonic,LDB1,NA,synonymous SNV,"LDB1:NM_001113407:exon5:c.G333A:p.E111E,LDB1:NM_001321612:exon5:c.G333A:p.E111E,LDB1:NM_003893:exon5:c.G225A:p.E75E",NA,NA,NA,NA,NA,NA
chr10,104136374,104136374,C,T,R010_S,GBF1,Missense_Mutation,NM_001199378,exon32,c.C4105T,p.P1369S,SNP,SNVindel,exonic,GBF1,NA,nonsynonymous SNV,"GBF1:NM_001199378:exon32:c.C4105T:p.P1369S,GBF1:NM_001199379:exon32:c.C4102T:p.P1368S,GBF1:NM_004193:exon32:c.C4102T:p.P1368S",T,N,D,T,N,T
chr10,104141919,104141919,C,T,R010_S,GBF1,Silent,NM_001199378,exon40,c.C5397T,p.P1799P,SNP,SNVindel,exonic,GBF1,NA,synonymous SNV,"GBF1:NM_001199378:exon40:c.C5397T:p.P1799P,GBF1:NM_001199379:exon40:c.C5394T:p.P1798P,GBF1:NM_004193:exon40:c.C5406T:p.P1802P",NA,NA,NA,NA,NA,NA
chr10,105182826,105182826,G,A,R010_S,PDCD11,Missense_Mutation,NM_014976,exon18,c.G2579A,p.G860D,SNP,SNVindel,exonic,PDCD11,NA,nonsynonymous SNV,PDCD11:NM_014976:exon18:c.G2579A:p.G860D,D,D,D,T,D,T
chr10,105209337,105209337,G,A,R010_S,CALHM2,Missense_Mutation,NM_015916,exon3,c.C362T,p.S121F,SNP,SNVindel,exonic,CALHM2,NA,nonsynonymous SNV,CALHM2:NM_015916:exon3:c.C362T:p.S121F,D,D,D,T,D,T
chr10,105344861,105344861,C,T,R010_S,NEURL1,Silent,NM_004210,exon4,c.C1218T,p.D406D,SNP,SNVindel,exonic,NEURL1,NA,synonymous SNV,NEURL1:NM_004210:exon4:c.C1218T:p.D406D,NA,NA,NA,NA,NA,NA
chr10,105362760,105362760,C,T,R010_S,SH3PXD2A,Missense_Mutation,NM_001365079,exon9,c.G1858A,p.D620N,SNP,SNVindel,exonic,SH3PXD2A,NA,nonsynonymous SNV,"SH3PXD2A:NM_001365079:exon9:c.G1858A:p.D620N,SH3PXD2A:NM_014631:exon14:c.G2131A:p.D711N",D,D,D,T,N,T
chr10,105763040,105763040,C,T,R010_S,SLK,Missense_Mutation,NM_001304743,exon9,c.C2104T,p.P702S,SNP,SNVindel,exonic,SLK,NA,nonsynonymous SNV,"SLK:NM_001304743:exon9:c.C2104T:p.P702S,SLK:NM_014720:exon9:c.C2104T:p.P702S",T,N,D,T,N,T
chr10,112350214,112350214,C,T,R010_S,SMC3,Silent,NM_005445,exon16,c.C1554T,p.H518H,SNP,SNVindel,exonic,SMC3,NA,synonymous SNV,SMC3:NM_005445:exon16:c.C1554T:p.H518H,NA,NA,NA,NA,NA,NA
chr10,114170249,114170249,C,T,R010_S,ACSL5,Missense_Mutation,NM_016234,exon8,c.C908T,p.P303L,SNP,SNVindel,exonic,ACSL5,NA,nonsynonymous SNV,"ACSL5:NM_016234:exon8:c.C908T:p.P303L,ACSL5:NM_203379:exon8:c.C740T:p.P247L,ACSL5:NM_203380:exon8:c.C740T:p.P247L",T,D,D,T,D,T
chr10,115804748,115804748,C,T,R010_S,ADRB1,Missense_Mutation,NM_000684,exon1,c.C857T,p.P286L,SNP,SNVindel,exonic,ADRB1,NA,nonsynonymous SNV,ADRB1:NM_000684:exon1:c.C857T:p.P286L,T,.,N,T,N,T
chr10,118215296,118215296,G,A,R010_S,PNLIPRP3,Silent,NM_001011709,exon5,c.G519A,p.L173L,SNP,SNVindel,exonic,PNLIPRP3,NA,synonymous SNV,PNLIPRP3:NM_001011709:exon5:c.G519A:p.L173L,NA,NA,NA,NA,NA,NA
chr10,121431922,121431922,C,T,R010_S,BAG3,Silent,NM_004281,exon3,c.C663T,p.A221A,SNP,SNVindel,exonic,BAG3,NA,synonymous SNV,BAG3:NM_004281:exon3:c.C663T:p.A221A,NA,NA,NA,NA,NA,NA
chr10,121436102,121436102,G,A,R010_S,BAG3,Missense_Mutation,NM_004281,exon4,c.G1036A,p.V346M,SNP,SNVindel,exonic,BAG3,NA,nonsynonymous SNV,BAG3:NM_004281:exon4:c.G1036A:p.V346M,D,N,N,T,N,T
chr10,124013567,124013567,G,A,R010_S,TACC2,Missense_Mutation,NM_206860,exon16,c.G2987A,p.S996N,SNP,SNVindel,exonic,TACC2,NA,nonsynonymous SNV,"TACC2:NM_206860:exon16:c.G2987A:p.S996N,TACC2:NM_001291878:exon17:c.G3023A:p.S1008N,TACC2:NM_001291879:exon17:c.G1724A:p.S575N,TACC2:NM_006997:exon17:c.G3077A:p.S1026N,TACC2:NM_001291876:exon20:c.G8477A:p.S2826N,TACC2:NM_001291877:exon20:c.G8624A:p.S2875N,TACC2:NM_206861:exon20:c.G3281A:p.S1094N,TACC2:NM_206862:exon23:c.G8843A:p.S2948N",D,D,D,T,N,T
chr10,124914566,124914566,C,T,R010_S,BUB3,Missense_Mutation,NM_001007793,exon2,c.C133T,p.P45S,SNP,SNVindel,exonic,BUB3,NA,nonsynonymous SNV,"BUB3:NM_001007793:exon2:c.C133T:p.P45S,BUB3:NM_004725:exon2:c.C133T:p.P45S",T,D,D,T,N,T
chr10,128974591,128974591,G,A,R010_S,INSYN2A,Silent,NM_001039762,exon4,c.C69T,p.C23C,SNP,SNVindel,exonic,INSYN2A,NA,synonymous SNV,INSYN2A:NM_001039762:exon4:c.C69T:p.C23C,NA,NA,NA,NA,NA,NA
chr10,129537051,129537051,G,A,R010_S,FOXI2,Missense_Mutation,NM_207426,exon2,c.G779A,p.G260D,SNP,SNVindel,exonic,FOXI2,NA,nonsynonymous SNV,FOXI2:NM_207426:exon2:c.G779A:p.G260D,T,N,N,D,N,T
chr10,129901973,129901973,G,A,R010_S,MKI67,Silent,NM_001145966,exon12,c.C7051T,p.L2351L,SNP,SNVindel,exonic,MKI67,NA,synonymous SNV,"MKI67:NM_001145966:exon12:c.C7051T:p.L2351L,MKI67:NM_002417:exon13:c.C8131T:p.L2711L",NA,NA,NA,NA,NA,NA
chr10,129903997,129903997,C,T,R010_S,MKI67,Missense_Mutation,NM_001145966,exon12,c.G5027A,p.G1676E,SNP,SNVindel,exonic,MKI67,NA,nonsynonymous SNV,"MKI67:NM_001145966:exon12:c.G5027A:p.G1676E,MKI67:NM_002417:exon13:c.G6107A:p.G2036E",T,N,N,T,N,T
chr10,129913426,129913426,C,T,R010_S,MKI67,Missense_Mutation,NM_002417,exon7,c.G1246A,p.E416K,SNP,SNVindel,exonic,MKI67,NA,nonsynonymous SNV,MKI67:NM_002417:exon7:c.G1246A:p.E416K,D,N,N,T,N,T
chr11,700703,700703,C,T,R010_S,TMEM80,Silent,NM_001042463,exon4,c.C441T,p.Y147Y,SNP,SNVindel,exonic,TMEM80,NA,synonymous SNV,"TMEM80:NM_001042463:exon4:c.C441T:p.Y147Y,TMEM80:NM_001276274:exon4:c.C441T:p.Y147Y,TMEM80:NM_174940:exon4:c.C417T:p.Y139Y",NA,NA,NA,NA,NA,NA
chr11,799415,799415,G,A,R010_S,PIDD1,Silent,NM_145886,exon16,c.C2625T,p.L875L,SNP,SNVindel,exonic,PIDD1,NA,synonymous SNV,"PIDD1:NM_145886:exon16:c.C2625T:p.L875L,PIDD1:NM_145887:exon16:c.C2574T:p.L858L",NA,NA,NA,NA,NA,NA
chr11,1084347,1084347,G,A,R010_S,MUC2,Missense_Mutation,NM_002457,exon19,c.G2479A,p.D827N,SNP,SNVindel,exonic,MUC2,NA,nonsynonymous SNV,MUC2:NM_002457:exon19:c.G2479A:p.D827N,NA,NA,NA,NA,NA,NA
chr11,1086414,1086414,G,A,R010_S,MUC2,Silent,NM_002457,exon23,c.G3123A,p.P1041P,SNP,SNVindel,exonic,MUC2,NA,synonymous SNV,MUC2:NM_002457:exon23:c.G3123A:p.P1041P,NA,NA,NA,NA,NA,NA
chr11,1217853,1217853,G,A,R010_S,MUC5AC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC5AC,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr11,1219528,1219528,C,T,R010_S,MUC5AC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC5AC,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,1246942,1246942,G,A,R010_S,MUC5B,Silent,NM_002458,exon2,c.G102A,p.E34E,SNP,SNVindel,exonic,MUC5B,NA,synonymous SNV,MUC5B:NM_002458:exon2:c.G102A:p.E34E,NA,NA,NA,NA,NA,NA
chr11,1267057,1267057,C,T,R010_S,MUC5B,Missense_Mutation,NM_002458,exon31,c.C8947T,p.P2983S,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.C8947T:p.P2983S,T,.,N,T,N,T
chr11,1270997,1270997,C,T,R010_S,MUC5B,Missense_Mutation,NM_002458,exon31,c.C12887T,p.A4296V,SNP,SNVindel,exonic,MUC5B,NA,nonsynonymous SNV,MUC5B:NM_002458:exon31:c.C12887T:p.A4296V,T,.,N,T,N,T
chr11,1432802,1432802,C,T,R010_S,BRSK2,Silent,NM_001256630,exon1,c.C168T,p.L56L,SNP,SNVindel,exonic,BRSK2,NA,synonymous SNV,BRSK2:NM_001256630:exon1:c.C168T:p.L56L,NA,NA,NA,NA,NA,NA
chr11,1780274,1780274,C,T,R010_S,CTSD,Silent,NM_001909,exon4,c.G396A,p.V132V,SNP,SNVindel,exonic,CTSD,NA,synonymous SNV,CTSD:NM_001909:exon4:c.G396A:p.V132V,NA,NA,NA,NA,NA,NA
chr11,2906011,2906011,G,A,R010_S,CDKN1C,Missense_Mutation,NM_000076,exon1,c.C709T,p.P237S,SNP,SNVindel,exonic,CDKN1C,NA,nonsynonymous SNV,"CDKN1C:NM_000076:exon1:c.C709T:p.P237S,CDKN1C:NM_001362474:exon1:c.C709T:p.P237S,CDKN1C:NM_001122630:exon2:c.C676T:p.P226S,CDKN1C:NM_001122631:exon2:c.C676T:p.P226S",T,.,D,D,N,T
chr11,2924567,2924567,C,T,R010_S,SLC22A18,Silent,NM_001315501,exon2,c.C247T,p.L83L,SNP,SNVindel,exonic,SLC22A18,NA,synonymous SNV,SLC22A18:NM_001315501:exon2:c.C247T:p.L83L,NA,NA,NA,NA,NA,NA
chr11,3381960,3381960,G,A,R010_S,ZNF195,Silent,NM_001130520,exon5,c.C432T,p.I144I,SNP,SNVindel,exonic,ZNF195,NA,synonymous SNV,"ZNF195:NM_001130520:exon5:c.C432T:p.I144I,ZNF195:NM_001242842:exon5:c.C297T:p.I99I",NA,NA,NA,NA,NA,NA
chr11,4112771,4112771,C,T,R010_S,STIM1,Missense_Mutation,NM_001277961,exon12,c.C2119T,p.P707S,SNP,SNVindel,exonic,STIM1,NA,nonsynonymous SNV,"STIM1:NM_001277961:exon12:c.C2119T:p.P707S,STIM1:NM_003156:exon12:c.C1801T:p.P601S",T,N,D,T,N,T
chr11,4407420,4407420,G,A,R010_S,TRIM21,Missense_Mutation,NM_003141,exon6,c.C826T,p.P276S,SNP,SNVindel,exonic,TRIM21,NA,nonsynonymous SNV,TRIM21:NM_003141:exon6:c.C826T:p.P276S,T,D,N,T,D,T
chr11,4870127,4870127,G,A,R010_S,OR51S1,Silent,NM_001004758,exon1,c.C312T,p.A104A,SNP,SNVindel,exonic,OR51S1,NA,synonymous SNV,OR51S1:NM_001004758:exon1:c.C312T:p.A104A,NA,NA,NA,NA,NA,NA
chr11,5411306,5411306,C,T,R010_S,OR51M1,Silent,NM_001004756,exon1,c.C678T,p.I226I,SNP,SNVindel,exonic,OR51M1,NA,synonymous SNV,OR51M1:NM_001004756:exon1:c.C678T:p.I226I,NA,NA,NA,NA,NA,NA
chr11,5602872,5602872,G,A,R010_S,OR52B6,Missense_Mutation,NM_001005162,exon1,c.G766A,p.A256T,SNP,SNVindel,exonic,OR52B6,NA,nonsynonymous SNV,OR52B6:NM_001005162:exon1:c.G766A:p.A256T,T,U,D,T,D,T
chr11,5922869,5922869,C,T,R010_S,OR52E5,Missense_Mutation,NM_001005166,exon1,c.C875T,p.S292F,SNP,SNVindel,exonic,OR52E5,NA,nonsynonymous SNV,OR52E5:NM_001005166:exon1:c.C875T:p.S292F,.,.,.,.,.,.
chr11,6231297,6231297,C,T,R010_S,C11orf42,Missense_Mutation,NM_173525,exon2,c.C290T,p.T97I,SNP,SNVindel,exonic,C11orf42,NA,nonsynonymous SNV,C11orf42:NM_173525:exon2:c.C290T:p.T97I,D,D,D,T,D,T
chr11,6245074,6245074,G,A,R010_S,FAM160A2,Silent,NM_001098794,exon3,c.C543T,p.S181S,SNP,SNVindel,exonic,FAM160A2,NA,synonymous SNV,"FAM160A2:NM_001098794:exon3:c.C543T:p.S181S,FAM160A2:NM_032127:exon3:c.C543T:p.S181S",NA,NA,NA,NA,NA,NA
chr11,6262740,6262740,G,A,R010_S,CNGA4,Missense_Mutation,NM_001037329,exon5,c.G997A,p.E333K,SNP,SNVindel,exonic,CNGA4,NA,nonsynonymous SNV,CNGA4:NM_001037329:exon5:c.G997A:p.E333K,D,D,D,D,D,D
chr11,6292129,6292129,G,A,R010_S,CCKBR,Missense_Mutation,NM_001363552,exon4,c.G907A,p.V303M,SNP,SNVindel,exonic,CCKBR,NA,nonsynonymous SNV,CCKBR:NM_001363552:exon4:c.G907A:p.V303M,T,.,N,T,N,T
chr11,6415452,6415452,G,A,R010_S,SMPD1,Missense_Mutation,NM_001365135,exon5,c.G1379A,p.G460E,SNP,SNVindel,exonic,SMPD1,NA,nonsynonymous SNV,"SMPD1:NM_001365135:exon5:c.G1379A:p.G460E,SMPD1:NM_000543:exon6:c.G1511A:p.G504E,SMPD1:NM_001007593:exon6:c.G1508A:p.G503E,SMPD1:NM_001318088:exon6:c.G590A:p.G197E",D,D,D,D,D,D
chr11,6566729,6566729,G,A,R010_S,DNHD1,Silent,NM_144666,exon21,c.G4560A,p.R1520R,SNP,SNVindel,exonic,DNHD1,NA,synonymous SNV,DNHD1:NM_144666:exon21:c.G4560A:p.R1520R,NA,NA,NA,NA,NA,NA
chr11,6570098,6570098,G,A,R010_S,DNHD1,Missense_Mutation,NM_144666,exon24,c.G7322A,p.G2441E,SNP,SNVindel,exonic,DNHD1,NA,nonsynonymous SNV,DNHD1:NM_144666:exon24:c.G7322A:p.G2441E,T,.,N,T,N,T
chr11,6585085,6585085,G,A,R010_S,DNHD1,Missense_Mutation,NM_144666,exon31,c.G10015A,p.A3339T,SNP,SNVindel,exonic,DNHD1,NA,nonsynonymous SNV,DNHD1:NM_144666:exon31:c.G10015A:p.A3339T,T,.,N,T,N,T
chr11,6629714,6629714,G,A,R010_S,ILK,Missense_Mutation,NM_001014795,exon3,c.G346A,p.A116T,SNP,SNVindel,exonic,ILK,NA,nonsynonymous SNV,"ILK:NM_001014795:exon3:c.G346A:p.A116T,ILK:NM_001014794:exon4:c.G346A:p.A116T,ILK:NM_001278441:exon4:c.G346A:p.A116T,ILK:NM_004517:exon4:c.G346A:p.A116T",D,D,D,T,D,T
chr11,6653491,6653491,C,T,R010_S,DCHS1,Silent,NM_003737,exon6,c.G3252A,p.Q1084Q,SNP,SNVindel,exonic,DCHS1,NA,synonymous SNV,DCHS1:NM_003737:exon6:c.G3252A:p.Q1084Q,NA,NA,NA,NA,NA,NA
chr11,6662232,6662232,G,A,R010_S,DCHS1,Missense_Mutation,NM_003737,exon2,c.C613T,p.P205S,SNP,SNVindel,exonic,DCHS1,NA,nonsynonymous SNV,DCHS1:NM_003737:exon2:c.C613T:p.P205S,T,D,N,T,N,T
chr11,7022563,7022563,C,T,R010_S,ZNF214,Silent,NM_001354832,exon3,c.G351A,p.G117G,SNP,SNVindel,exonic,ZNF214,NA,synonymous SNV,"ZNF214:NM_001354832:exon3:c.G351A:p.G117G,ZNF214:NM_001354833:exon3:c.G309A:p.G103G,ZNF214:NM_013249:exon3:c.G351A:p.G117G,ZNF214:NM_001354830:exon4:c.G384A:p.G128G,ZNF214:NM_001354831:exon4:c.G351A:p.G117G",NA,NA,NA,NA,NA,NA
chr11,7110355,7110355,G,A,R010_S,RBMXL2,Missense_Mutation,NM_014469,exon1,c.G4A,p.V2I,SNP,SNVindel,exonic,RBMXL2,NA,nonsynonymous SNV,RBMXL2:NM_014469:exon1:c.G4A:p.V2I,D,U,N,T,N,T
chr11,7721855,7721855,G,A,R010_S,OVCH2,Missense_Mutation,NM_001367963,exon7,c.C889T,p.H297Y,SNP,SNVindel,exonic,OVCH2,NA,nonsynonymous SNV,"OVCH2:NM_001367963:exon7:c.C889T:p.H297Y,OVCH2:NM_198185:exon7:c.C889T:p.H297Y",.,N,N,.,.,T
chr11,8014547,8014547,G,A,R010_S,EIF3F,Missense_Mutation,NM_003754,exon4,c.G629A,p.R210H,SNP,SNVindel,exonic,EIF3F,NA,nonsynonymous SNV,EIF3F:NM_003754:exon4:c.G629A:p.R210H,T,D,D,T,N,T
chr11,8751937,8751937,G,A,R010_S,ST5,Silent,NM_213618,exon3,c.C900T,p.L300L,SNP,SNVindel,exonic,ST5,NA,synonymous SNV,"ST5:NM_213618:exon3:c.C900T:p.L300L,ST5:NM_005418:exon6:c.C900T:p.L300L",NA,NA,NA,NA,NA,NA
chr11,10327960,10327960,C,T,R010_S,ADM,Silent,NM_001124,exon4,c.C330T,p.C110C,SNP,SNVindel,exonic,ADM,NA,synonymous SNV,ADM:NM_001124:exon4:c.C330T:p.C110C,D,.,D,T,N,T
chr11,10673765,10673765,C,T,R010_S,MRVI1,Missense_Mutation,NM_001098579,exon1,c.G5A,p.G2E,SNP,SNVindel,exonic,MRVI1,NA,nonsynonymous SNV,MRVI1:NM_001098579:exon1:c.G5A:p.G2E,D,N,D,T,N,T
chr11,12901291,12901291,G,A,R010_S,TEAD1,Missense_Mutation,NM_021961,exon6,c.G367A,p.A123T,SNP,SNVindel,exonic,TEAD1,NA,nonsynonymous SNV,TEAD1:NM_021961:exon6:c.G367A:p.A123T,D,D,D,T,N,T
chr11,13443302,13443302,C,T,R010_S,BTBD10,Missense_Mutation,NM_001297741,exon2,c.G41A,p.R14K,SNP,SNVindel,exonic,BTBD10,NA,nonsynonymous SNV,"BTBD10:NM_001297741:exon2:c.G41A:p.R14K,BTBD10:NM_001297742:exon2:c.G209A:p.R70K,BTBD10:NM_032320:exon3:c.G185A:p.R62K",T,D,D,T,N,T
chr11,13732325,13732325,G,A,R010_S,FAR1,Missense_Mutation,NM_032228,exon5,c.G631A,p.A211T,SNP,SNVindel,exonic,FAR1,NA,nonsynonymous SNV,FAR1:NM_032228:exon5:c.G631A:p.A211T,T,D,D,T,D,T
chr11,17122848,17122848,G,A,R010_S,PIK3C2A,Missense_Mutation,NM_001321380,exon24,c.C2845T,p.L949F,SNP,SNVindel,exonic,PIK3C2A,NA,nonsynonymous SNV,"PIK3C2A:NM_001321380:exon24:c.C2845T:p.L949F,PIK3C2A:NM_002645:exon25:c.C3985T:p.L1329F,PIK3C2A:NM_001321378:exon26:c.C3985T:p.L1329F",D,D,D,T,D,D
chr11,17378396,17378396,G,A,R010_S,NCR3LG1,Missense_Mutation,NM_001202439,exon2,c.G269A,p.R90Q,SNP,SNVindel,exonic,NCR3LG1,NA,nonsynonymous SNV,NCR3LG1:NM_001202439:exon2:c.G269A:p.R90Q,T,.,N,T,D,T
chr11,17464820,17464820,C,T,R010_S,ABCC8,Missense_Mutation,NM_000352,exon9,c.G1372A,p.V458I,SNP,SNVindel,exonic,ABCC8,NA,nonsynonymous SNV,"ABCC8:NM_000352:exon9:c.G1372A:p.V458I,ABCC8:NM_001287174:exon9:c.G1372A:p.V458I,ABCC8:NM_001351295:exon9:c.G1372A:p.V458I,ABCC8:NM_001351296:exon9:c.G1369A:p.V457I,ABCC8:NM_001351297:exon9:c.G1369A:p.V457I",T,N,N,D,N,T
chr11,17631314,17631314,C,T,R010_S,OTOG,Silent,NM_001277269,exon35,c.C4503T,p.S1501S,SNP,SNVindel,exonic,OTOG,NA,synonymous SNV,"OTOG:NM_001277269:exon35:c.C4503T:p.S1501S,OTOG:NM_001292063:exon36:c.C4467T:p.S1489S",NA,NA,NA,NA,NA,NA
chr11,17631557,17631557,C,T,R010_S,OTOG,Silent,NM_001277269,exon35,c.C4746T,p.L1582L,SNP,SNVindel,exonic,OTOG,NA,synonymous SNV,"OTOG:NM_001277269:exon35:c.C4746T:p.L1582L,OTOG:NM_001292063:exon36:c.C4710T:p.L1570L",NA,NA,NA,NA,NA,NA
chr11,18308206,18308206,C,T,R010_S,HPS5,Nonsense_Mutation,NM_007216,exon18,c.G2427A,p.W809X,SNP,SNVindel,exonic,HPS5,NA,stopgain,"HPS5:NM_007216:exon18:c.G2427A:p.W809X,HPS5:NM_181508:exon18:c.G2427A:p.W809X,HPS5:NM_181507:exon19:c.G2769A:p.W923X",.,D,A,.,.,.
chr11,18722614,18722614,C,T,R010_S,TMEM86A,Silent,NM_153347,exon2,c.C156T,p.L52L,SNP,SNVindel,exonic,TMEM86A,NA,synonymous SNV,TMEM86A:NM_153347:exon2:c.C156T:p.L52L,NA,NA,NA,NA,NA,NA
chr11,19901611,19901611,G,A,R010_S,NAV2,Silent,NM_001111018,exon5,c.G516A,p.P172P,SNP,SNVindel,exonic,NAV2,NA,synonymous SNV,"NAV2:NM_001111018:exon5:c.G516A:p.P172P,NAV2:NM_001244963:exon5:c.G708A:p.P236P,NAV2:NM_145117:exon5:c.G708A:p.P236P,NAV2:NM_182964:exon5:c.G708A:p.P236P",NA,NA,NA,NA,NA,NA
chr11,20403763,20403763,C,T,R010_S,HTATIP2,Missense_Mutation,NM_001098522,exon4,c.C481T,p.R161C,SNP,SNVindel,exonic,HTATIP2,NA,nonsynonymous SNV,"HTATIP2:NM_001098522:exon4:c.C481T:p.R161C,HTATIP2:NM_001098520:exon5:c.C583T:p.R195C,HTATIP2:NM_001098521:exon5:c.C481T:p.R161C,HTATIP2:NM_006410:exon5:c.C481T:p.R161C",D,D,D,T,D,T
chr11,20515731,20515731,C,T,R010_S,PRMT3,Missense_Mutation,NM_001145166,exon13,c.C1231T,p.P411S,SNP,SNVindel,exonic,PRMT3,NA,nonsynonymous SNV,"PRMT3:NM_001145166:exon13:c.C1231T:p.P411S,PRMT3:NM_001145167:exon14:c.C1186T:p.P396S,PRMT3:NM_005788:exon15:c.C1417T:p.P473S",D,D,D,T,D,D
chr11,20982002,20982002,C,T,R010_S,NELL1,Missense_Mutation,NM_001288714,exon11,c.C1025T,p.P342L,SNP,SNVindel,exonic,NELL1,NA,nonsynonymous SNV,"NELL1:NM_001288714:exon11:c.C1025T:p.P342L,NELL1:NM_006157:exon12:c.C1196T:p.P399L,NELL1:NM_201551:exon12:c.C1196T:p.P399L,NELL1:NM_001288713:exon13:c.C1280T:p.P427L",T,N,D,D,N,T
chr11,22281103,22281103,G,A,R010_S,ANO5,Silent,NM_001142649,exon15,c.G1443A,p.V481V,SNP,SNVindel,exonic,ANO5,NA,synonymous SNV,"ANO5:NM_001142649:exon15:c.G1443A:p.V481V,ANO5:NM_213599:exon15:c.G1446A:p.V482V",NA,NA,NA,NA,NA,NA
chr11,22291955,22291955,C,T,R010_S,ANO5,Missense_Mutation,NM_001142649,exon18,c.C1993T,p.P665S,SNP,SNVindel,exonic,ANO5,NA,nonsynonymous SNV,"ANO5:NM_001142649:exon18:c.C1993T:p.P665S,ANO5:NM_213599:exon18:c.C1996T:p.P666S",T,N,N,T,N,T
chr11,26556109,26556109,G,A,R010_S,ANO3,Missense_Mutation,NM_001313727,exon6,c.G538A,p.G180S,SNP,SNVindel,exonic,ANO3,NA,nonsynonymous SNV,"ANO3:NM_001313727:exon6:c.G538A:p.G180S,ANO3:NM_031418:exon9:c.G976A:p.G326S,ANO3:NM_001313726:exon10:c.G1159A:p.G387S",D,D,D,D,D,D
chr11,26692659,26692659,G,A,R010_S,SLC5A12,Missense_Mutation,NM_178498,exon15,c.C1847T,p.T616I,SNP,SNVindel,exonic,SLC5A12,NA,nonsynonymous SNV,SLC5A12:NM_178498:exon15:c.C1847T:p.T616I,T,N,N,D,N,T
chr11,27395183,27395183,C,T,R010_S,LGR4,Missense_Mutation,NM_001346432,exon14,c.G1222A,p.G408S,SNP,SNVindel,exonic,LGR4,NA,nonsynonymous SNV,"LGR4:NM_001346432:exon14:c.G1222A:p.G408S,LGR4:NM_018490:exon15:c.G1294A:p.G432S",D,D,D,T,D,T
chr11,30032774,30032774,G,A,R010_S,KCNA4,Silent,NM_002233,exon2,c.C1452T,p.F484F,SNP,SNVindel,exonic,KCNA4,NA,synonymous SNV,KCNA4:NM_002233:exon2:c.C1452T:p.F484F,NA,NA,NA,NA,NA,NA
chr11,31128485,31128485,C,T,R010_S,DCDC1,Missense_Mutation,NM_001367979,exon13,c.G1610A,p.R537K,SNP,SNVindel,exonic,DCDC1,NA,nonsynonymous SNV,DCDC1:NM_001367979:exon13:c.G1610A:p.R537K,.,.,.,T,.,.
chr11,33106681,33106681,G,A,R010_S,CSTF3,Silent,NM_001326,exon21,c.C2106T,p.P702P,SNP,SNVindel,exonic,CSTF3,NA,synonymous SNV,CSTF3:NM_001326:exon21:c.C2106T:p.P702P,NA,NA,NA,NA,NA,NA
chr11,33565836,33565836,C,T,R010_S,KIAA1549L,Silent,NM_012194,exon2,c.C2727T,p.T909T,SNP,SNVindel,exonic,KIAA1549L,NA,synonymous SNV,KIAA1549L:NM_012194:exon2:c.C2727T:p.T909T,NA,NA,NA,NA,NA,NA
chr11,34161990,34161990,C,T,R010_S,NAT10,Silent,NM_001144030,exon22,c.C2247T,p.D749D,SNP,SNVindel,exonic,NAT10,NA,synonymous SNV,"NAT10:NM_001144030:exon22:c.C2247T:p.D749D,NAT10:NM_024662:exon24:c.C2463T:p.D821D",NA,NA,NA,NA,NA,NA
chr11,43876406,43876406,G,A,R010_S,HSD17B12,Missense_Mutation,NM_016142,exon10,c.G826A,p.A276T,SNP,SNVindel,exonic,HSD17B12,NA,nonsynonymous SNV,HSD17B12:NM_016142:exon10:c.G826A:p.A276T,T,N,D,T,N,T
chr11,45827395,45827395,G,A,R010_S,SLC35C1,Missense_Mutation,NM_018389,exon1,c.G43A,p.A15T,SNP,SNVindel,exonic,SLC35C1,NA,nonsynonymous SNV,"SLC35C1:NM_018389:exon1:c.G43A:p.A15T,SLC35C1:NM_001145265:exon2:c.G4A:p.A2T,SLC35C1:NM_001145266:exon2:c.G4A:p.A2T",D,D,D,T,N,T
chr11,45949579,45949579,G,A,R010_S,LARGE2,Silent,NM_001300721,exon12,c.G1713A,p.E571E,SNP,SNVindel,exonic,LARGE2,NA,synonymous SNV,"LARGE2:NM_001300721:exon12:c.G1713A:p.E571E,LARGE2:NM_152312:exon12:c.G1713A:p.E571E,LARGE2:NM_001300722:exon13:c.G1620A:p.E540E",NA,NA,NA,NA,NA,NA
chr11,45958091,45958091,C,T,R010_S,PHF21A,Nonsense_Mutation,NM_001101802,exon16,c.G1635A,p.W545X,SNP,SNVindel,exonic,PHF21A,NA,stopgain,"PHF21A:NM_001101802:exon16:c.G1635A:p.W545X,PHF21A:NM_001352026:exon16:c.G1638A:p.W546X,PHF21A:NM_001352030:exon16:c.G1494A:p.W498X,PHF21A:NM_001352031:exon16:c.G1494A:p.W498X,PHF21A:NM_016621:exon16:c.G1497A:p.W499X,PHF21A:NM_001352025:exon17:c.G1638A:p.W546X,PHF21A:NM_001352027:exon17:c.G1638A:p.W546X,PHF21A:NM_001352028:exon17:c.G1497A:p.W499X,PHF21A:NM_001352032:exon18:c.G1494A:p.W498X,PHF21A:NM_001352029:exon19:c.G1497A:p.W499X",.,D,A,.,.,.
chr11,46334004,46334004,C,T,R010_S,CREB3L1,Silent,NM_052854,exon6,c.C882T,p.V294V,SNP,SNVindel,exonic,CREB3L1,NA,synonymous SNV,CREB3L1:NM_052854:exon6:c.C882T:p.V294V,NA,NA,NA,NA,NA,NA
chr11,46396523,46396523,G,A,R010_S,DGKZ,Silent,NM_001199268,exon18,c.G1569A,p.E523E,SNP,SNVindel,exonic,DGKZ,NA,synonymous SNV,"DGKZ:NM_001199268:exon18:c.G1569A:p.E523E,DGKZ:NM_001199266:exon19:c.G1638A:p.E546E,DGKZ:NM_001199267:exon19:c.G1635A:p.E545E,DGKZ:NM_003646:exon19:c.G1638A:p.E546E,DGKZ:NM_201532:exon19:c.G1686A:p.E562E,DGKZ:NM_201533:exon19:c.G1650A:p.E550E,DGKZ:NM_001105540:exon20:c.G2202A:p.E734E",NA,NA,NA,NA,NA,NA
chr11,46419393,46419393,C,T,R010_S,AMBRA1,Silent,NM_001300731,exon17,c.G3324A,p.Q1108Q,SNP,SNVindel,exonic,AMBRA1,NA,synonymous SNV,"AMBRA1:NM_001300731:exon17:c.G3324A:p.Q1108Q,AMBRA1:NM_001367469:exon17:c.G2967A:p.Q989Q,AMBRA1:NM_001267783:exon18:c.G3147A:p.Q1049Q,AMBRA1:NM_001367468:exon18:c.G3504A:p.Q1168Q,AMBRA1:NM_001367470:exon19:c.G2697A:p.Q899Q,AMBRA1:NM_001367471:exon19:c.G3234A:p.Q1078Q,AMBRA1:NM_017749:exon19:c.G3234A:p.Q1078Q,AMBRA1:NM_001267782:exon20:c.G3513A:p.Q1171Q",NA,NA,NA,NA,NA,NA
chr11,46419398,46419398,C,T,R010_S,AMBRA1,Missense_Mutation,NM_001300731,exon17,c.G3319A,p.E1107K,SNP,SNVindel,exonic,AMBRA1,NA,nonsynonymous SNV,"AMBRA1:NM_001300731:exon17:c.G3319A:p.E1107K,AMBRA1:NM_001367469:exon17:c.G2962A:p.E988K,AMBRA1:NM_001267783:exon18:c.G3142A:p.E1048K,AMBRA1:NM_001367468:exon18:c.G3499A:p.E1167K,AMBRA1:NM_001367470:exon19:c.G2692A:p.E898K,AMBRA1:NM_001367471:exon19:c.G3229A:p.E1077K,AMBRA1:NM_017749:exon19:c.G3229A:p.E1077K,AMBRA1:NM_001267782:exon20:c.G3508A:p.E1170K",D,D,D,T,N,D
chr11,46702582,46702582,C,T,R010_S,ARHGAP1,Missense_Mutation,NM_004308,exon7,c.G614A,p.G205E,SNP,SNVindel,exonic,ARHGAP1,NA,nonsynonymous SNV,ARHGAP1:NM_004308:exon7:c.G614A:p.G205E,T,D,D,T,N,T
chr11,47201054,47201054,C,T,R010_S,PACSIN3,Silent,NM_001184974,exon7,c.G687A,p.E229E,SNP,SNVindel,exonic,PACSIN3,NA,synonymous SNV,"PACSIN3:NM_001184974:exon7:c.G687A:p.E229E,PACSIN3:NM_001184975:exon7:c.G687A:p.E229E,PACSIN3:NM_016223:exon7:c.G687A:p.E229E",NA,NA,NA,NA,NA,NA
chr11,47202109,47202109,C,T,R010_S,PACSIN3,Missense_Mutation,NM_001184974,exon5,c.G344A,p.R115Q,SNP,SNVindel,exonic,PACSIN3,NA,nonsynonymous SNV,"PACSIN3:NM_001184974:exon5:c.G344A:p.R115Q,PACSIN3:NM_001184975:exon5:c.G344A:p.R115Q,PACSIN3:NM_016223:exon5:c.G344A:p.R115Q",D,D,D,T,N,T
chr11,47202183,47202183,C,T,R010_S,PACSIN3,Silent,NM_001184974,exon5,c.G270A,p.R90R,SNP,SNVindel,exonic,PACSIN3,NA,synonymous SNV,"PACSIN3:NM_001184974:exon5:c.G270A:p.R90R,PACSIN3:NM_001184975:exon5:c.G270A:p.R90R,PACSIN3:NM_016223:exon5:c.G270A:p.R90R",NA,NA,NA,NA,NA,NA
chr11,47297601,47297601,G,A,R010_S,MADD,Missense_Mutation,NM_001135943,exon4,c.G811A,p.V271I,SNP,SNVindel,exonic,MADD,NA,nonsynonymous SNV,"MADD:NM_001135943:exon4:c.G811A:p.V271I,MADD:NM_001135944:exon4:c.G811A:p.V271I,MADD:NM_003682:exon4:c.G811A:p.V271I,MADD:NM_130470:exon4:c.G811A:p.V271I,MADD:NM_130471:exon4:c.G811A:p.V271I,MADD:NM_130472:exon4:c.G811A:p.V271I,MADD:NM_130473:exon4:c.G811A:p.V271I,MADD:NM_130474:exon4:c.G811A:p.V271I,MADD:NM_130475:exon4:c.G811A:p.V271I,MADD:NM_130476:exon4:c.G811A:p.V271I",T,D,D,T,N,T
chr11,47311506,47311506,C,T,R010_S,MADD,Silent,NM_001135943,exon17,c.C2716T,p.L906L,SNP,SNVindel,exonic,MADD,NA,synonymous SNV,"MADD:NM_001135943:exon17:c.C2716T:p.L906L,MADD:NM_001135944:exon17:c.C2716T:p.L906L,MADD:NM_130470:exon17:c.C2845T:p.L949L,MADD:NM_130472:exon17:c.C2716T:p.L906L,MADD:NM_130474:exon17:c.C2716T:p.L906L,MADD:NM_130476:exon17:c.C2845T:p.L949L,MADD:NM_003682:exon18:c.C2905T:p.L969L,MADD:NM_130471:exon18:c.C2776T:p.L926L,MADD:NM_130473:exon18:c.C2905T:p.L969L,MADD:NM_130475:exon18:c.C2905T:p.L969L",NA,NA,NA,NA,NA,NA
chr11,47346096,47346096,G,A,R010_S,MADD,Missense_Mutation,NM_001135943,exon30,c.G4381A,p.E1461K,SNP,SNVindel,exonic,MADD,NA,nonsynonymous SNV,"MADD:NM_001135943:exon30:c.G4381A:p.E1461K,MADD:NM_001135944:exon30:c.G4372A:p.E1458K,MADD:NM_130470:exon30:c.G4513A:p.E1505K,MADD:NM_130472:exon30:c.G4384A:p.E1462K,MADD:NM_130474:exon30:c.G4384A:p.E1462K,MADD:NM_130476:exon30:c.G4510A:p.E1504K,MADD:NM_130471:exon31:c.G4444A:p.E1482K,MADD:NM_130473:exon31:c.G4573A:p.E1525K,MADD:NM_003682:exon33:c.G4690A:p.E1564K,MADD:NM_130475:exon33:c.G4690A:p.E1564K",D,D,D,T,D,T
chr11,47354864,47354864,C,T,R010_S,MYBPC3,Missense_Mutation,NM_000256,exon29,c.G3211A,p.D1071N,SNP,SNVindel,exonic,MYBPC3,NA,nonsynonymous SNV,MYBPC3:NM_000256:exon29:c.G3211A:p.D1071N,T,.,N,D,N,T
chr11,47494665,47494665,C,T,R010_S,CELF1,Silent,NM_001025596,exon11,c.G1308A,p.K436K,SNP,SNVindel,exonic,CELF1,NA,synonymous SNV,"CELF1:NM_001025596:exon11:c.G1308A:p.K436K,CELF1:NM_001172640:exon11:c.G1305A:p.K435K,CELF1:NM_006560:exon12:c.G1296A:p.K432K,CELF1:NM_198700:exon12:c.G1299A:p.K433K,CELF1:NM_001172639:exon14:c.G1386A:p.K462K,CELF1:NM_001330272:exon14:c.G1392A:p.K464K",NA,NA,NA,NA,NA,NA
chr11,47609687,47609687,C,T,R010_S,FAM180B,Missense_Mutation,NM_001367966,exon2,c.C217T,p.L73F,SNP,SNVindel,exonic,FAM180B,NA,nonsynonymous SNV,"FAM180B:NM_001367966:exon2:c.C217T:p.L73F,FAM180B:NM_001367967:exon2:c.C103T:p.L35F,FAM180B:NM_001164379:exon3:c.C253T:p.L85F,FAM180B:NM_001367968:exon3:c.C67T:p.L23F",T,N,N,T,N,T
chr11,47746039,47746039,G,A,R010_S,FNBP4,Missense_Mutation,NM_001318339,exon13,c.C2306T,p.T769I,SNP,SNVindel,exonic,FNBP4,NA,nonsynonymous SNV,"FNBP4:NM_001318339:exon13:c.C2306T:p.T769I,FNBP4:NM_015308:exon13:c.C2300T:p.T767I",D,N,N,T,N,T
chr11,47837540,47837540,C,T,R010_S,NUP160,Nonsense_Mutation,NM_015231,exon12,c.G1473A,p.W491X,SNP,SNVindel,exonic,NUP160,NA,stopgain,NUP160:NM_015231:exon12:c.G1473A:p.W491X,.,D,A,.,.,.
chr11,51412056,51412056,C,T,R010_S,OR4A5,Missense_Mutation,NM_001005272,exon1,c.G340A,p.V114M,SNP,SNVindel,exonic,OR4A5,NA,nonsynonymous SNV,OR4A5:NM_001005272:exon1:c.G340A:p.V114M,.,.,.,.,.,.
chr11,55322139,55322139,G,A,R010_S,OR4C15,Silent,NM_001001920,exon1,c.G195A,p.L65L,SNP,SNVindel,exonic,OR4C15,NA,synonymous SNV,OR4C15:NM_001001920:exon1:c.G195A:p.L65L,NA,NA,NA,NA,NA,NA
chr11,55735251,55735251,G,A,R010_S,OR10AG1,Missense_Mutation,NM_001005491,exon1,c.C689T,p.S230F,SNP,SNVindel,exonic,OR10AG1,NA,nonsynonymous SNV,OR10AG1:NM_001005491:exon1:c.C689T:p.S230F,D,D,D,T,D,T
chr11,55945024,55945024,C,T,R010_S,OR5J2,Missense_Mutation,NM_001005492,exon1,c.C931T,p.L311F,SNP,SNVindel,exonic,OR5J2,NA,nonsynonymous SNV,OR5J2:NM_001005492:exon1:c.C931T:p.L311F,T,N,N,T,N,T
chr11,57076079,57076079,C,T,R010_S,TNKS1BP1,Missense_Mutation,NM_033396,exon6,c.G4106A,p.G1369E,SNP,SNVindel,exonic,TNKS1BP1,NA,nonsynonymous SNV,TNKS1BP1:NM_033396:exon6:c.G4106A:p.G1369E,T,N,N,T,N,T
chr11,57137463,57137463,G,A,R010_S,P2RX3,Missense_Mutation,NM_002559,exon12,c.G1187A,p.G396D,SNP,SNVindel,exonic,P2RX3,NA,nonsynonymous SNV,P2RX3:NM_002559:exon12:c.G1187A:p.G396D,D,N,D,T,N,T
chr11,57243854,57243854,G,A,R010_S,RTN4RL2,Missense_Mutation,NM_178570,exon3,c.G733A,p.E245K,SNP,SNVindel,exonic,RTN4RL2,NA,nonsynonymous SNV,RTN4RL2:NM_178570:exon3:c.G733A:p.E245K,D,U,D,T,D,T
chr11,57244270,57244270,G,A,R010_S,RTN4RL2,Silent,NM_178570,exon3,c.G1149A,p.Q383Q,SNP,SNVindel,exonic,RTN4RL2,NA,synonymous SNV,RTN4RL2:NM_178570:exon3:c.G1149A:p.Q383Q,NA,NA,NA,NA,NA,NA
chr11,57464272,57464272,C,T,R010_S,ZDHHC5,Missense_Mutation,NM_015457,exon10,c.C1049T,p.T350I,SNP,SNVindel,exonic,ZDHHC5,NA,nonsynonymous SNV,ZDHHC5:NM_015457:exon10:c.C1049T:p.T350I,D,N,D,T,N,D
chr11,57569474,57569474,G,A,R010_S,CTNND1,Missense_Mutation,NM_001085469,exon4,c.G923A,p.G308D,SNP,SNVindel,exonic,CTNND1,NA,nonsynonymous SNV,"CTNND1:NM_001085469:exon4:c.G923A:p.G308D,CTNND1:NM_001085463:exon5:c.G923A:p.G308D,CTNND1:NM_001085464:exon5:c.G923A:p.G308D,CTNND1:NM_001085465:exon5:c.G923A:p.G308D,CTNND1:NM_001085466:exon5:c.G923A:p.G308D,CTNND1:NM_001085467:exon5:c.G923A:p.G308D,CTNND1:NM_001085468:exon5:c.G923A:p.G308D,CTNND1:NM_001206890:exon5:c.G923A:p.G308D,CTNND1:NM_001085462:exon6:c.G1226A:p.G409D,CTNND1:NM_001206883:exon6:c.G1064A:p.G355D,CTNND1:NM_001206884:exon6:c.G1064A:p.G355D,CTNND1:NM_001206886:exon6:c.G1064A:p.G355D,CTNND1:NM_001206887:exon6:c.G1064A:p.G355D,CTNND1:NM_001206888:exon6:c.G1064A:p.G355D,CTNND1:NM_001085458:exon7:c.G1226A:p.G409D,CTNND1:NM_001085459:exon7:c.G1226A:p.G409D,CTNND1:NM_001085460:exon7:c.G1226A:p.G409D,CTNND1:NM_001085461:exon7:c.G1226A:p.G409D,CTNND1:NM_001206885:exon7:c.G1226A:p.G409D,CTNND1:NM_001206889:exon7:c.G1064A:p.G355D,CTNND1:NM_001206891:exon7:c.G1064A:p.G355D,CTNND1:NM_001331:exon7:c.G1226A:p.G409D",D,D,D,T,D,D
chr11,57947630,57947630,C,T,R010_S,OR9Q1,Silent,NM_001005212,exon3,c.C714T,p.S238S,SNP,SNVindel,exonic,OR9Q1,NA,synonymous SNV,OR9Q1:NM_001005212:exon3:c.C714T:p.S238S,NA,NA,NA,NA,NA,NA
chr11,57970991,57970991,G,A,R010_S,OR1S2,Silent,NM_001004459,exon1,c.C663T,p.I221I,SNP,SNVindel,exonic,OR1S2,NA,synonymous SNV,OR1S2:NM_001004459:exon1:c.C663T:p.I221I,NA,NA,NA,NA,NA,NA
chr11,58347039,58347039,G,A,R010_S,ZFP91,Silent,NM_001197051,exon1,c.G285A,p.Q95Q,SNP,SNVindel,exonic,ZFP91,NA,synonymous SNV,"ZFP91:NM_001197051:exon1:c.G285A:p.Q95Q,ZFP91:NM_053023:exon1:c.G285A:p.Q95Q",NA,NA,NA,NA,NA,NA
chr11,58893243,58893243,C,T,R010_S,FAM111B,Missense_Mutation,NM_001142704,exon2,c.C1583T,p.P528L,SNP,SNVindel,exonic,FAM111B,NA,nonsynonymous SNV,"FAM111B:NM_001142704:exon2:c.C1583T:p.P528L,FAM111B:NM_001142703:exon3:c.C1583T:p.P528L,FAM111B:NM_198947:exon4:c.C1673T:p.P558L",D,N,D,T,D,T
chr11,58972195,58972195,C,T,R010_S,DTX4,Missense_Mutation,NM_001300727,exon9,c.C1355T,p.A452V,SNP,SNVindel,exonic,DTX4,NA,nonsynonymous SNV,"DTX4:NM_001300727:exon9:c.C1355T:p.A452V,DTX4:NM_015177:exon9:c.C1673T:p.A558V",D,D,D,T,N,T
chr11,59132195,59132195,G,A,R010_S,OR5AN1,Silent,NM_001004729,exon1,c.G264A,p.Q88Q,SNP,SNVindel,exonic,OR5AN1,NA,synonymous SNV,OR5AN1:NM_001004729:exon1:c.G264A:p.Q88Q,NA,NA,NA,NA,NA,NA
chr11,60617448,60617448,C,T,R010_S,CCDC86,Silent,NM_024098,exon3,c.C924T,p.R308R,SNP,SNVindel,exonic,CCDC86,NA,synonymous SNV,CCDC86:NM_024098:exon3:c.C924T:p.R308R,NA,NA,NA,NA,NA,NA
chr11,60689462,60689462,C,T,R010_S,TMEM109,Missense_Mutation,NM_024092,exon4,c.C557T,p.A186V,SNP,SNVindel,exonic,TMEM109,NA,nonsynonymous SNV,TMEM109:NM_024092:exon4:c.C557T:p.A186V,D,D,D,.,N,T
chr11,61249900,61249900,G,A,R010_S,PPP1R32,Missense_Mutation,NM_001170753,exon3,c.G227A,p.G76E,SNP,SNVindel,exonic,PPP1R32,NA,nonsynonymous SNV,"PPP1R32:NM_001170753:exon3:c.G227A:p.G76E,PPP1R32:NM_145017:exon3:c.G227A:p.G76E",D,N,D,T,D,T
chr11,61253329,61253329,C,T,R010_S,PPP1R32,Silent,NM_001170753,exon7,c.C633T,p.S211S,SNP,SNVindel,exonic,PPP1R32,NA,synonymous SNV,"PPP1R32:NM_001170753:exon7:c.C633T:p.S211S,PPP1R32:NM_145017:exon7:c.C633T:p.S211S",NA,NA,NA,NA,NA,NA
chr11,61570344,61570344,C,T,R010_S,FADS1,Silent,NM_013402,exon11,c.G1383A,p.Q461Q,SNP,SNVindel,exonic,FADS1,NA,synonymous SNV,FADS1:NM_013402:exon11:c.G1383A:p.Q461Q,NA,NA,NA,NA,NA,NA
chr11,62292338,62292338,G,A,R010_S,AHNAK,Missense_Mutation,NM_001346445,exon5,c.C9551T,p.P3184L,SNP,SNVindel,exonic,AHNAK,NA,nonsynonymous SNV,"AHNAK:NM_001346445:exon5:c.C9551T:p.P3184L,AHNAK:NM_001346446:exon5:c.C9551T:p.P3184L,AHNAK:NM_001620:exon5:c.C9551T:p.P3184L",T,.,D,T,D,T
chr11,62343443,62343443,G,A,R010_S,TUT1,Missense_Mutation,NM_022830,exon9,c.C1748T,p.S583F,SNP,SNVindel,exonic,TUT1,NA,nonsynonymous SNV,TUT1:NM_022830:exon9:c.C1748T:p.S583F,D,D,D,T,D,T
chr11,62356652,62356652,G,A,R010_S,TUT1,Missense_Mutation,NM_001367906,exon2,c.C124T,p.H42Y,SNP,SNVindel,exonic,TUT1,NA,nonsynonymous SNV,"TUT1:NM_001367906:exon2:c.C124T:p.H42Y,TUT1:NM_022830:exon2:c.C124T:p.H42Y",T,N,N,T,N,T
chr11,62455280,62455280,G,A,R010_S,LRRN4CL,Missense_Mutation,NM_203422,exon2,c.C701T,p.A234V,SNP,SNVindel,exonic,LRRN4CL,NA,nonsynonymous SNV,LRRN4CL:NM_203422:exon2:c.C701T:p.A234V,T,U,N,.,N,T
chr11,62571335,62571335,C,T,R010_S,NXF1,Silent,NM_001081491,exon2,c.G144A,p.R48R,SNP,SNVindel,exonic,NXF1,NA,synonymous SNV,"NXF1:NM_001081491:exon2:c.G144A:p.R48R,NXF1:NM_006362:exon2:c.G144A:p.R48R",NA,NA,NA,NA,NA,NA
chr11,62677283,62677283,G,A,R010_S,CHRM1,Silent,NM_000738,exon2,c.C1290T,p.R430R,SNP,SNVindel,exonic,CHRM1,NA,synonymous SNV,CHRM1:NM_000738:exon2:c.C1290T:p.R430R,NA,NA,NA,NA,NA,NA
chr11,63679845,63679845,G,A,R010_S,RCOR2,Missense_Mutation,NM_173587,exon11,c.C1189T,p.P397S,SNP,SNVindel,exonic,RCOR2,NA,nonsynonymous SNV,RCOR2:NM_173587:exon11:c.C1189T:p.P397S,T,D,D,T,N,T
chr11,63992267,63992267,C,T,R010_S,TRPT1,Silent,NM_001160389,exon4,c.G333A,p.G111G,SNP,SNVindel,exonic,TRPT1,NA,synonymous SNV,TRPT1:NM_001160389:exon4:c.G333A:p.G111G,NA,NA,NA,NA,NA,NA
chr11,64336233,64336233,C,T,R010_S,SLC22A11,Silent,NM_018484,exon8,c.C1365T,p.L455L,SNP,SNVindel,exonic,SLC22A11,NA,synonymous SNV,SLC22A11:NM_018484:exon8:c.C1365T:p.L455L,NA,NA,NA,NA,NA,NA
chr11,64402921,64402921,C,T,R010_S,NRXN2,Missense_Mutation,NM_138734,exon2,c.G269A,p.G90E,SNP,SNVindel,exonic,NRXN2,NA,nonsynonymous SNV,"NRXN2:NM_138734:exon2:c.G269A:p.G90E,NRXN2:NM_138732:exon16:c.G3287A:p.G1096E,NRXN2:NM_015080:exon18:c.G3407A:p.G1136E",D,U,D,T,D,T
chr11,64503420,64503420,C,T,R010_S,RASGRP2,Silent,NM_001098670,exon10,c.G1128A,p.E376E,SNP,SNVindel,exonic,RASGRP2,NA,synonymous SNV,"RASGRP2:NM_001098670:exon10:c.G1128A:p.E376E,RASGRP2:NM_001098671:exon10:c.G1128A:p.E376E,RASGRP2:NM_001318398:exon10:c.G693A:p.E231E,RASGRP2:NM_153819:exon10:c.G1128A:p.E376E",NA,NA,NA,NA,NA,NA
chr11,64668490,64668490,C,T,R010_S,ATG2A,Silent,NM_001367971,exon30,c.G4170A,p.R1390R,SNP,SNVindel,exonic,ATG2A,NA,synonymous SNV,"ATG2A:NM_001367971:exon30:c.G4170A:p.R1390R,ATG2A:NM_001367972:exon30:c.G4176A:p.R1392R,ATG2A:NM_015104:exon30:c.G4194A:p.R1398R",NA,NA,NA,NA,NA,NA
chr11,64846603,64846603,C,T,R010_S,CDCA5,Silent,NM_080668,exon6,c.G735A,p.E245E,SNP,SNVindel,exonic,CDCA5,NA,synonymous SNV,CDCA5:NM_080668:exon6:c.G735A:p.E245E,NA,NA,NA,NA,NA,NA
chr11,64880077,64880077,C,T,R010_S,TM7SF2,Missense_Mutation,NM_001277233,exon2,c.C143T,p.P48L,SNP,SNVindel,exonic,TM7SF2,NA,nonsynonymous SNV,"TM7SF2:NM_001277233:exon2:c.C143T:p.P48L,TM7SF2:NM_003273:exon2:c.C143T:p.P48L",D,N,D,D,D,D
chr11,65034153,65034153,G,A,R010_S,POLA2,Silent,NM_002689,exon2,c.G180A,p.E60E,SNP,SNVindel,exonic,POLA2,NA,synonymous SNV,POLA2:NM_002689:exon2:c.G180A:p.E60E,NA,NA,NA,NA,NA,NA
chr11,65562740,65562740,G,A,R010_S,OVOL1,Silent,NM_004561,exon4,c.G732A,p.K244K,SNP,SNVindel,exonic,OVOL1,NA,synonymous SNV,OVOL1:NM_004561:exon4:c.G732A:p.K244K,NA,NA,NA,NA,NA,NA
chr11,65618546,65618546,G,A,R010_S,SNX32,Silent,NM_152760,exon7,c.G624A,p.E208E,SNP,SNVindel,exonic,SNX32,NA,synonymous SNV,SNX32:NM_152760:exon7:c.G624A:p.E208E,NA,NA,NA,NA,NA,NA
chr11,65994978,65994978,G,A,R010_S,PACS1,Missense_Mutation,NM_018026,exon11,c.G1297A,p.E433K,SNP,SNVindel,exonic,PACS1,NA,nonsynonymous SNV,PACS1:NM_018026:exon11:c.G1297A:p.E433K,D,N,D,T,N,T
chr11,66084471,66084471,C,T,R010_S,CD248,Missense_Mutation,NM_020404,exon1,c.G28A,p.A10T,SNP,SNVindel,exonic,CD248,NA,nonsynonymous SNV,CD248:NM_020404:exon1:c.G28A:p.A10T,T,U,N,D,N,T
chr11,66102365,66102365,C,T,R010_S,RIN1,Missense_Mutation,NM_001363559,exon6,c.G821A,p.G274D,SNP,SNVindel,exonic,RIN1,NA,nonsynonymous SNV,"RIN1:NM_001363559:exon6:c.G821A:p.G274D,RIN1:NM_001363560:exon6:c.G905A:p.G302D,RIN1:NM_004292:exon6:c.G905A:p.G302D",T,N,N,T,N,T
chr11,66135297,66135297,C,T,R010_S,SLC29A2,Silent,NM_001532,exon6,c.G594A,p.T198T,SNP,SNVindel,exonic,SLC29A2,NA,synonymous SNV,"SLC29A2:NM_001532:exon6:c.G594A:p.T198T,SLC29A2:NM_001300868:exon8:c.G594A:p.T198T,SLC29A2:NM_001300869:exon8:c.G594A:p.T198T",NA,NA,NA,NA,NA,NA
chr11,66192097,66192097,G,A,R010_S,NPAS4,Missense_Mutation,NM_001318804,exon6,c.G1106A,p.S369N,SNP,SNVindel,exonic,NPAS4,NA,nonsynonymous SNV,"NPAS4:NM_001318804:exon6:c.G1106A:p.S369N,NPAS4:NM_178864:exon7:c.G1736A:p.S579N",T,D,D,T,N,T
chr11,66192686,66192686,G,A,R010_S,NPAS4,Silent,NM_001318804,exon6,c.G1695A,p.G565G,SNP,SNVindel,exonic,NPAS4,NA,synonymous SNV,"NPAS4:NM_001318804:exon6:c.G1695A:p.G565G,NPAS4:NM_178864:exon7:c.G2325A:p.G775G",NA,NA,NA,NA,NA,NA
chr11,66276669,66276669,G,A,R010_S,DPP3,Missense_Mutation,NM_001256670,exon17,c.G2071A,p.A691T,SNP,SNVindel,exonic,DPP3,NA,nonsynonymous SNV,"DPP3:NM_001256670:exon17:c.G2071A:p.A691T,DPP3:NM_005700:exon18:c.G2161A:p.A721T,DPP3:NM_130443:exon18:c.G2161A:p.A721T",T,N,N,T,N,T
chr11,66335102,66335102,C,T,R010_S,CTSF,Missense_Mutation,NM_003793,exon3,c.G344A,p.G115E,SNP,SNVindel,exonic,CTSF,NA,nonsynonymous SNV,CTSF:NM_003793:exon3:c.G344A:p.G115E,D,N,N,T,N,T
chr11,66456240,66456240,C,T,R010_S,SPTBN2,Missense_Mutation,NM_006946,exon30,c.G6115A,p.A2039T,SNP,SNVindel,exonic,SPTBN2,NA,nonsynonymous SNV,SPTBN2:NM_006946:exon30:c.G6115A:p.A2039T,T,D,N,T,N,T
chr11,66475223,66475223,C,T,R010_S,SPTBN2,Missense_Mutation,NM_006946,exon12,c.G1417A,p.D473N,SNP,SNVindel,exonic,SPTBN2,NA,nonsynonymous SNV,SPTBN2:NM_006946:exon12:c.G1417A:p.D473N,D,D,D,T,D,D
chr11,66613432,66613432,G,A,R010_S,RCE1,Missense_Mutation,NM_001032279,exon8,c.G544A,p.A182T,SNP,SNVindel,exonic,RCE1,NA,nonsynonymous SNV,"RCE1:NM_001032279:exon8:c.G544A:p.A182T,RCE1:NM_005133:exon8:c.G856A:p.A286T",T,N,N,.,N,T
chr11,67020998,67020998,C,T,R010_S,KDM2A,Missense_Mutation,NM_001256405,exon8,c.C1690T,p.L564F,SNP,SNVindel,exonic,KDM2A,NA,nonsynonymous SNV,"KDM2A:NM_001256405:exon8:c.C1690T:p.L564F,KDM2A:NM_012308:exon19:c.C3007T:p.L1003F",D,D,D,T,D,D
chr11,67050230,67050230,C,T,R010_S,GRK2,Missense_Mutation,NM_001619,exon14,c.C1168T,p.P390S,SNP,SNVindel,exonic,GRK2,NA,nonsynonymous SNV,GRK2:NM_001619:exon14:c.C1168T:p.P390S,D,D,D,T,D,D
chr11,67058984,67058984,C,T,R010_S,ANKRD13D,Missense_Mutation,NM_207354,exon4,c.C389T,p.T130I,SNP,SNVindel,exonic,ANKRD13D,NA,nonsynonymous SNV,"ANKRD13D:NM_207354:exon4:c.C389T:p.T130I,ANKRD13D:NM_001347901:exon5:c.C128T:p.T43I",D,D,D,T,D,T
chr11,67166269,67166269,G,A,R010_S,PPP1CA,Missense_Mutation,NM_206873,exon5,c.C674T,p.A225V,SNP,SNVindel,exonic,PPP1CA,NA,nonsynonymous SNV,"PPP1CA:NM_206873:exon5:c.C674T:p.A225V,PPP1CA:NM_001008709:exon6:c.C839T:p.A280V,PPP1CA:NM_002708:exon6:c.C806T:p.A269V",D,D,D,T,D,T
chr11,67201893,67201893,C,T,R010_S,RPS6KB2,Nonsense_Mutation,NM_003952,exon13,c.C1093T,p.Q365X,SNP,SNVindel,exonic,RPS6KB2,NA,stopgain,RPS6KB2:NM_003952:exon13:c.C1093T:p.Q365X,.,D,A,.,.,.
chr11,67205955,67205955,C,T,R010_S,CORO1B,Silent,NM_020441,exon11,c.G1362A,p.E454E,SNP,SNVindel,exonic,CORO1B,NA,synonymous SNV,"CORO1B:NM_020441:exon11:c.G1362A:p.E454E,CORO1B:NM_001018070:exon12:c.G1362A:p.E454E",NA,NA,NA,NA,NA,NA
chr11,67290115,67290115,C,T,R010_S,CABP2,Missense_Mutation,NM_016366,exon2,c.G115A,p.G39R,SNP,SNVindel,exonic,CABP2,NA,nonsynonymous SNV,CABP2:NM_016366:exon2:c.G115A:p.G39R,T,N,N,T,N,T
chr11,67377950,67377950,C,T,R010_S,NDUFV1,Silent,NM_001166102,exon5,c.C582T,p.A194A,SNP,SNVindel,exonic,NDUFV1,NA,synonymous SNV,"NDUFV1:NM_001166102:exon5:c.C582T:p.A194A,NDUFV1:NM_007103:exon5:c.C609T:p.A203A",NA,NA,NA,NA,NA,NA
chr11,67399261,67399261,C,T,R010_S,TBX10,Missense_Mutation,NM_005995,exon8,c.G973A,p.V325I,SNP,SNVindel,exonic,TBX10,NA,nonsynonymous SNV,TBX10:NM_005995:exon8:c.G973A:p.V325I,T,N,N,D,N,T
chr11,67433136,67433136,G,A,R010_S,ALDH3B2,Missense_Mutation,NM_001031615,exon7,c.C326T,p.P109L,SNP,SNVindel,exonic,ALDH3B2,NA,nonsynonymous SNV,"ALDH3B2:NM_001031615:exon7:c.C326T:p.P109L,ALDH3B2:NM_001354345:exon8:c.C326T:p.P109L",T,N,N,T,N,T
chr11,67815137,67815137,C,T,R010_S,TCIRG1,Silent,NM_006053,exon7,c.C681T,p.G227G,SNP,SNVindel,exonic,TCIRG1,NA,synonymous SNV,"TCIRG1:NM_006053:exon7:c.C681T:p.G227G,TCIRG1:NM_001351059:exon11:c.C435T:p.G145G,TCIRG1:NM_006019:exon12:c.C1329T:p.G443G",NA,NA,NA,NA,NA,NA
chr11,68341649,68341649,T,C,R010_S,PPP6R3,Silent,NM_001352353,exon11,c.T930C,p.T310T,SNP,SNVindel,exonic,PPP6R3,NA,synonymous SNV,"PPP6R3:NM_001352353:exon11:c.T930C:p.T310T,PPP6R3:NM_001352347:exon12:c.T741C:p.T247T,PPP6R3:NM_001352351:exon12:c.T1143C:p.T381T,PPP6R3:NM_001352355:exon12:c.T1143C:p.T381T,PPP6R3:NM_001352358:exon12:c.T1263C:p.T421T,PPP6R3:NM_001352359:exon12:c.T1143C:p.T381T,PPP6R3:NM_001352361:exon12:c.T1143C:p.T381T,PPP6R3:NM_001352370:exon12:c.T1143C:p.T381T,PPP6R3:NM_001352374:exon12:c.T1143C:p.T381T,PPP6R3:NM_001164160:exon13:c.T1416C:p.T472T,PPP6R3:NM_001164161:exon13:c.T1416C:p.T472T,PPP6R3:NM_001164162:exon13:c.T1416C:p.T472T,PPP6R3:NM_001164163:exon13:c.T1416C:p.T472T,PPP6R3:NM_001164164:exon13:c.T1263C:p.T421T,PPP6R3:NM_001352350:exon13:c.T1416C:p.T472T,PPP6R3:NM_001352352:exon13:c.T1416C:p.T472T,PPP6R3:NM_001352356:exon13:c.T1416C:p.T472T,PPP6R3:NM_001352357:exon13:c.T741C:p.T247T,PPP6R3:NM_001352365:exon13:c.T1416C:p.T472T,PPP6R3:NM_001352366:exon13:c.T1416C:p.T472T,PPP6R3:NM_001352369:exon13:c.T741C:p.T247T,PPP6R3:NM_001352373:exon13:c.T1416C:p.T472T,PPP6R3:NM_001352377:exon13:c.T1416C:p.T472T,PPP6R3:NM_001352378:exon13:c.T1143C:p.T381T,PPP6R3:NM_018312:exon13:c.T1263C:p.T421T,PPP6R3:NM_001352348:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352354:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352360:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352362:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352363:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352364:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352368:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352371:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352372:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352375:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352376:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352380:exon14:c.T1416C:p.T472T,PPP6R3:NM_001352379:exon15:c.T1416C:p.T472T",NA,NA,NA,NA,NA,NA
chr11,68566697,68566697,C,T,R010_S,CPT1A,Missense_Mutation,NM_001031847,exon6,c.G682A,p.A228T,SNP,SNVindel,exonic,CPT1A,NA,nonsynonymous SNV,"CPT1A:NM_001031847:exon6:c.G682A:p.A228T,CPT1A:NM_001876:exon6:c.G682A:p.A228T",T,D,D,D,D,D
chr11,69486521,69486521,C,T,R010_S,LTO1,Missense_Mutation,NM_153451,exon3,c.G223A,p.D75N,SNP,SNVindel,exonic,LTO1,NA,nonsynonymous SNV,LTO1:NM_153451:exon3:c.G223A:p.D75N,T,N,D,T,N,T
chr11,70007749,70007749,G,A,R010_S,ANO1,Missense_Mutation,NM_018043,exon18,c.G1802A,p.S601N,SNP,SNVindel,exonic,ANO1,NA,nonsynonymous SNV,ANO1:NM_018043:exon18:c.G1802A:p.S601N,T,D,D,T,N,T
chr11,70333367,70333367,C,T,R010_S,SHANK2,Missense_Mutation,NM_133266,exon10,c.G1267A,p.G423R,SNP,SNVindel,exonic,SHANK2,NA,nonsynonymous SNV,SHANK2:NM_133266:exon10:c.G1267A:p.G423R,D,D,D,T,D,T
chr11,71724172,71724172,G,A,R010_S,NUMA1,Silent,NM_006185,exon15,c.C4377T,p.N1459N,SNP,SNVindel,exonic,NUMA1,NA,synonymous SNV,"NUMA1:NM_006185:exon15:c.C4377T:p.N1459N,NUMA1:NM_001286561:exon16:c.C4377T:p.N1459N",NA,NA,NA,NA,NA,NA
chr11,71932258,71932258,G,A,R010_S,FOLR2,Silent,NM_000803,exon4,c.G378A,p.V126V,SNP,SNVindel,exonic,FOLR2,NA,synonymous SNV,"FOLR2:NM_000803:exon4:c.G378A:p.V126V,FOLR2:NM_001113534:exon4:c.G378A:p.V126V,FOLR2:NM_001113535:exon4:c.G378A:p.V126V,FOLR2:NM_001113536:exon4:c.G378A:p.V126V",.,.,D,.,.,T
chr11,72300267,72300267,G,A,R010_S,PDE2A,Silent,NM_001143839,exon11,c.C870T,p.G290G,SNP,SNVindel,exonic,PDE2A,NA,synonymous SNV,"PDE2A:NM_001143839:exon11:c.C870T:p.G290G,PDE2A:NM_001243784:exon12:c.C828T:p.G276G,PDE2A:NM_002599:exon12:c.C891T:p.G297G,PDE2A:NM_001146209:exon13:c.C864T:p.G288G",NA,NA,NA,NA,NA,NA
chr11,72437818,72437818,G,A,R010_S,ARAP1,Missense_Mutation,NM_001040118,exon3,c.C356T,p.P119L,SNP,SNVindel,exonic,ARAP1,NA,nonsynonymous SNV,ARAP1:NM_001040118:exon3:c.C356T:p.P119L,D,D,D,T,N,T
chr11,72945350,72945350,G,A,R010_S,P2RY2,Missense_Mutation,NM_002564,exon3,c.G146A,p.C49Y,SNP,SNVindel,exonic,P2RY2,NA,nonsynonymous SNV,"P2RY2:NM_002564:exon3:c.G146A:p.C49Y,P2RY2:NM_176071:exon3:c.G146A:p.C49Y,P2RY2:NM_176072:exon3:c.G146A:p.C49Y",T,N,N,T,N,T
chr11,73360078,73360078,G,A,R010_S,PLEKHB1,Missense_Mutation,NM_001130033,exon2,c.G40A,p.E14K,SNP,SNVindel,exonic,PLEKHB1,NA,nonsynonymous SNV,"PLEKHB1:NM_001130033:exon2:c.G40A:p.E14K,PLEKHB1:NM_021200:exon2:c.G40A:p.E14K",D,D,D,.,N,T
chr11,74632292,74632292,G,A,R010_S,XRRA1,Missense_Mutation,NM_001270380,exon8,c.C599T,p.T200I,SNP,SNVindel,exonic,XRRA1,NA,nonsynonymous SNV,"XRRA1:NM_001270380:exon8:c.C599T:p.T200I,XRRA1:NM_182969:exon8:c.C599T:p.T200I",T,N,D,T,N,T
chr11,74880417,74880417,C,T,R010_S,SLCO2B1,Silent,NM_001145212,exon2,c.C216T,p.D72D,SNP,SNVindel,exonic,SLCO2B1,NA,synonymous SNV,"SLCO2B1:NM_001145212:exon2:c.C216T:p.D72D,SLCO2B1:NM_001145211:exon5:c.C582T:p.D194D,SLCO2B1:NM_007256:exon5:c.C648T:p.D216D",NA,NA,NA,NA,NA,NA
chr11,75134741,75134741,G,A,R010_S,KLHL35,Missense_Mutation,NM_001039548,exon5,c.C1558T,p.P520S,SNP,SNVindel,exonic,KLHL35,NA,nonsynonymous SNV,KLHL35:NM_001039548:exon5:c.C1558T:p.P520S,T,D,D,T,N,T
chr11,75907740,75907740,C,T,R010_S,WNT11,Missense_Mutation,NM_004626,exon2,c.G106A,p.A36T,SNP,SNVindel,exonic,WNT11,NA,nonsynonymous SNV,WNT11:NM_004626:exon2:c.G106A:p.A36T,T,N,N,T,N,T
chr11,76255527,76255527,G,A,R010_S,EMSY,Silent,NM_001300943,exon19,c.G2937A,p.Q979Q,SNP,SNVindel,exonic,EMSY,NA,synonymous SNV,"EMSY:NM_001300943:exon19:c.G2937A:p.Q979Q,EMSY:NM_001300944:exon19:c.G2937A:p.Q979Q,EMSY:NM_020193:exon19:c.G2934A:p.Q978Q,EMSY:NM_001300942:exon20:c.G2979A:p.Q993Q",NA,NA,NA,NA,NA,NA
chr11,76371502,76371502,C,T,R010_S,LRRC32,Missense_Mutation,NM_001370190,exon2,c.G805A,p.E269K,SNP,SNVindel,exonic,LRRC32,NA,nonsynonymous SNV,"LRRC32:NM_001370190:exon2:c.G805A:p.E269K,LRRC32:NM_001128922:exon3:c.G1135A:p.E379K,LRRC32:NM_001370187:exon3:c.G1135A:p.E379K,LRRC32:NM_001370188:exon3:c.G1135A:p.E379K,LRRC32:NM_001370189:exon3:c.G1069A:p.E357K,LRRC32:NM_005512:exon3:c.G1135A:p.E379K",T,N,N,T,N,T
chr11,76804749,76804749,C,T,R010_S,CAPN5,Missense_Mutation,NM_004055,exon3,c.C187T,p.L63F,SNP,SNVindel,exonic,CAPN5,NA,nonsynonymous SNV,CAPN5:NM_004055:exon3:c.C187T:p.L63F,D,D,D,D,N,D
chr11,76833068,76833068,G,A,R010_S,CAPN5,Missense_Mutation,NM_004055,exon11,c.G1576A,p.A526T,SNP,SNVindel,exonic,CAPN5,NA,nonsynonymous SNV,CAPN5:NM_004055:exon11:c.G1576A:p.A526T,D,D,D,D,D,D
chr11,76980017,76980017,C,T,R010_S,GDPD4,Silent,NM_182833,exon9,c.G576A,p.E192E,SNP,SNVindel,exonic,GDPD4,NA,synonymous SNV,GDPD4:NM_182833:exon9:c.G576A:p.E192E,NA,NA,NA,NA,NA,NA
chr11,77734291,77734291,C,T,R010_S,KCTD14,Nonsense_Mutation,NM_023930,exon1,c.G5A,p.W2X,SNP,SNVindel,exonic,KCTD14,NA,stopgain,KCTD14:NM_023930:exon1:c.G5A:p.W2X,.,.,A,.,.,.
chr11,78369320,78369320,G,A,R010_S,TENM4,Missense_Mutation,NM_001098816,exon34,c.C8093T,p.A2698V,SNP,SNVindel,exonic,TENM4,NA,nonsynonymous SNV,TENM4:NM_001098816:exon34:c.C8093T:p.A2698V,D,D,D,D,D,D
chr11,78412864,78412864,G,A,R010_S,TENM4,Silent,NM_001098816,exon28,c.C4794T,p.T1598T,SNP,SNVindel,exonic,TENM4,NA,synonymous SNV,TENM4:NM_001098816:exon28:c.C4794T:p.T1598T,NA,NA,NA,NA,NA,NA
chr11,82444733,82444733,G,A,R010_S,FAM181B,Silent,NM_175885,exon1,c.C39T,p.F13F,SNP,SNVindel,exonic,FAM181B,NA,synonymous SNV,FAM181B:NM_175885:exon1:c.C39T:p.F13F,NA,NA,NA,NA,NA,NA
chr11,82877746,82877746,G,A,R010_S,PCF11,Missense_Mutation,NM_001346413,exon5,c.G1807A,p.E603K,SNP,SNVindel,exonic,PCF11,NA,nonsynonymous SNV,"PCF11:NM_001346413:exon5:c.G1807A:p.E603K,PCF11:NM_001346414:exon5:c.G1807A:p.E603K,PCF11:NM_001346415:exon5:c.G1807A:p.E603K,PCF11:NM_015885:exon5:c.G1807A:p.E603K",D,D,D,T,N,T
chr11,82880735,82880735,C,T,R010_S,PCF11,Missense_Mutation,NM_001346413,exon8,c.C3751T,p.P1251S,SNP,SNVindel,exonic,PCF11,NA,nonsynonymous SNV,"PCF11:NM_001346413:exon8:c.C3751T:p.P1251S,PCF11:NM_001346414:exon8:c.C3751T:p.P1251S,PCF11:NM_001346415:exon8:c.C3358T:p.P1120S,PCF11:NM_015885:exon8:c.C3358T:p.P1120S",D,D,D,T,N,T
chr11,83674049,83674049,C,T,R010_S,DLG2,Missense_Mutation,NM_001142700,exon7,c.G751A,p.E251K,SNP,SNVindel,exonic,DLG2,NA,nonsynonymous SNV,"DLG2:NM_001142700:exon7:c.G751A:p.E251K,DLG2:NM_001206769:exon8:c.G1021A:p.E341K,DLG2:NM_001300983:exon9:c.G904A:p.E302K,DLG2:NM_001351276:exon9:c.G961A:p.E321K,DLG2:NM_001364:exon9:c.G904A:p.E302K,DLG2:NM_001351275:exon12:c.G1252A:p.E418K,DLG2:NM_001351274:exon13:c.G1255A:p.E419K,DLG2:NM_001142699:exon14:c.G1219A:p.E407K",T,N,D,T,N,T
chr11,86267699,86267699,G,A,R010_S,ME3,Silent,NM_001014811,exon3,c.C363T,p.F121F,SNP,SNVindel,exonic,ME3,NA,synonymous SNV,"ME3:NM_001014811:exon3:c.C363T:p.F121F,ME3:NM_001161586:exon4:c.C363T:p.F121F,ME3:NM_001351934:exon4:c.C363T:p.F121F,ME3:NM_006680:exon4:c.C363T:p.F121F",NA,NA,NA,NA,NA,NA
chr11,86518870,86518870,C,T,R010_S,PRSS23,Missense_Mutation,NM_001293179,exon2,c.C185T,p.S62F,SNP,SNVindel,exonic,PRSS23,NA,nonsynonymous SNV,"PRSS23:NM_001293179:exon2:c.C185T:p.S62F,PRSS23:NM_001293180:exon2:c.C185T:p.S62F,PRSS23:NM_007173:exon2:c.C185T:p.S62F",D,N,D,.,D,T
chr11,87024528,87024528,C,T,R010_S,TMEM135,Missense_Mutation,NM_001168724,exon10,c.C932T,p.A311V,SNP,SNVindel,exonic,TMEM135,NA,nonsynonymous SNV,"TMEM135:NM_001168724:exon10:c.C932T:p.A311V,TMEM135:NM_022918:exon11:c.C998T:p.A333V",D,D,D,T,D,D
chr11,87908502,87908502,G,A,R010_S,RAB38,Silent,NM_022337,exon1,c.C51T,p.D17D,SNP,SNVindel,exonic,RAB38,NA,synonymous SNV,RAB38:NM_022337:exon1:c.C51T:p.D17D,NA,NA,NA,NA,NA,NA
chr11,88924582,88924582,G,A,R010_S,TYR,Silent,NM_000372,exon2,c.G1032A,p.L344L,SNP,SNVindel,exonic,TYR,NA,synonymous SNV,TYR:NM_000372:exon2:c.G1032A:p.L344L,NA,NA,NA,NA,NA,NA
chr11,89424112,89424112,G,A,R010_S,FOLH1B,Silent,NM_153696,exon11,c.G762A,p.V254V,SNP,SNVindel,exonic,FOLH1B,NA,synonymous SNV,FOLH1B:NM_153696:exon11:c.G762A:p.V254V,NA,NA,NA,NA,NA,NA
chr11,92088330,92088330,C,T,R010_S,FAT3,Missense_Mutation,NM_001008781,exon1,c.C3052T,p.P1018S,SNP,SNVindel,exonic,FAT3,NA,nonsynonymous SNV,"FAT3:NM_001008781:exon1:c.C3052T:p.P1018S,FAT3:NM_001367949:exon2:c.C3052T:p.P1018S",D,.,D,T,D,T
chr11,92533180,92533180,C,T,R010_S,FAT3,Missense_Mutation,NM_001008781,exon9,c.C7001T,p.T2334I,SNP,SNVindel,exonic,FAT3,NA,nonsynonymous SNV,"FAT3:NM_001008781:exon9:c.C7001T:p.T2334I,FAT3:NM_001367949:exon10:c.C7001T:p.T2334I",T,.,D,T,D,T
chr11,92616082,92616082,G,A,R010_S,FAT3,Missense_Mutation,NM_001008781,exon23,c.G12460A,p.E4154K,SNP,SNVindel,exonic,FAT3,NA,nonsynonymous SNV,"FAT3:NM_001008781:exon23:c.G12460A:p.E4154K,FAT3:NM_001367949:exon24:c.G12460A:p.E4154K",D,.,D,T,N,D
chr11,93487168,93487168,G,A,R010_S,C11orf54,Missense_Mutation,NM_001286070,exon4,c.G238A,p.A80T,SNP,SNVindel,exonic,C11orf54,NA,nonsynonymous SNV,"C11orf54:NM_001286070:exon4:c.G238A:p.A80T,C11orf54:NM_001351993:exon4:c.G238A:p.A80T,C11orf54:NM_001286068:exon5:c.G295A:p.A99T,C11orf54:NM_001286069:exon5:c.G295A:p.A99T,C11orf54:NM_001286071:exon5:c.G295A:p.A99T,C11orf54:NM_001351990:exon5:c.G238A:p.A80T,C11orf54:NM_001351991:exon5:c.G295A:p.A99T,C11orf54:NM_001351992:exon5:c.G295A:p.A99T,C11orf54:NM_014039:exon5:c.G295A:p.A99T,C11orf54:NM_001286067:exon6:c.G295A:p.A99T,C11orf54:NM_001351985:exon6:c.G295A:p.A99T,C11orf54:NM_001351986:exon6:c.G295A:p.A99T,C11orf54:NM_001351987:exon6:c.G295A:p.A99T,C11orf54:NM_001351988:exon6:c.G295A:p.A99T,C11orf54:NM_001351989:exon6:c.G295A:p.A99T",D,D,D,.,D,D
chr11,94277330,94277330,C,T,R010_S,FUT4,Missense_Mutation,NM_002033,exon1,c.C31T,p.P11S,SNP,SNVindel,exonic,FUT4,NA,nonsynonymous SNV,FUT4:NM_002033:exon1:c.C31T:p.P11S,T,U,N,T,N,T
chr11,94322337,94322337,C,T,R010_S,PIWIL4,Missense_Mutation,NM_152431,exon8,c.C965T,p.P322L,SNP,SNVindel,exonic,PIWIL4,NA,nonsynonymous SNV,PIWIL4:NM_152431:exon8:c.C965T:p.P322L,D,N,D,T,D,T
chr11,94326794,94326794,C,T,R010_S,PIWIL4,Silent,NM_152431,exon9,c.C1137T,p.L379L,SNP,SNVindel,exonic,PIWIL4,NA,synonymous SNV,PIWIL4:NM_152431:exon9:c.C1137T:p.L379L,NA,NA,NA,NA,NA,NA
chr11,94731833,94731833,C,T,R010_S,KDM4D,Missense_Mutation,NM_018039,exon3,c.C1297T,p.P433S,SNP,SNVindel,exonic,KDM4D,NA,nonsynonymous SNV,KDM4D:NM_018039:exon3:c.C1297T:p.P433S,T,U,N,T,N,T
chr11,94732051,94732051,C,T,R010_S,KDM4D,Silent,NM_018039,exon3,c.C1515T,p.S505S,SNP,SNVindel,exonic,KDM4D,NA,synonymous SNV,KDM4D:NM_018039:exon3:c.C1515T:p.S505S,NA,NA,NA,NA,NA,NA
chr11,95724808,95724808,C,T,R010_S,MAML2,Missense_Mutation,NM_032427,exon3,c.G2219A,p.G740D,SNP,SNVindel,exonic,MAML2,NA,nonsynonymous SNV,MAML2:NM_032427:exon3:c.G2219A:p.G740D,D,N,D,T,D,T
chr11,96074916,96074916,G,A,R010_S,MAML2,Silent,NM_032427,exon1,c.C144T,p.R48R,SNP,SNVindel,exonic,MAML2,NA,synonymous SNV,MAML2:NM_032427:exon1:c.C144T:p.R48R,NA,NA,NA,NA,NA,NA
chr11,100141932,100141932,A,T,R010_S,CNTN5,Missense_Mutation,NM_175566,exon15,c.A2051T,p.D684V,SNP,SNVindel,exonic,CNTN5,NA,nonsynonymous SNV,"CNTN5:NM_175566:exon15:c.A2051T:p.D684V,CNTN5:NM_001243270:exon17:c.A2273T:p.D758V,CNTN5:NM_001243271:exon18:c.A2273T:p.D758V,CNTN5:NM_014361:exon18:c.A2273T:p.D758V",D,D,D,T,D,T
chr11,101324426,101324426,C,T,R010_S,TRPC6,Missense_Mutation,NM_004621,exon12,c.G2599A,p.V867I,SNP,SNVindel,exonic,TRPC6,NA,nonsynonymous SNV,TRPC6:NM_004621:exon12:c.G2599A:p.V867I,T,D,D,D,N,T
chr11,102195707,102195707,C,T,R010_S,BIRC3,Missense_Mutation,NM_001165,exon2,c.C467T,p.A156V,SNP,SNVindel,exonic,BIRC3,NA,nonsynonymous SNV,"BIRC3:NM_001165:exon2:c.C467T:p.A156V,BIRC3:NM_182962:exon3:c.C467T:p.A156V",T,N,N,T,N,T
chr11,102220944,102220944,G,A,R010_S,BIRC2,Missense_Mutation,NM_001166,exon2,c.G359A,p.S120N,SNP,SNVindel,exonic,BIRC2,NA,nonsynonymous SNV,"BIRC2:NM_001166:exon2:c.G359A:p.S120N,BIRC2:NM_001256163:exon2:c.G359A:p.S120N,BIRC2:NM_001256166:exon2:c.G212A:p.S71N",T,N,N,T,N,T
chr11,102398577,102398577,C,T,R010_S,MMP7,Missense_Mutation,NM_002423,exon2,c.G246A,p.M82I,SNP,SNVindel,exonic,MMP7,NA,nonsynonymous SNV,MMP7:NM_002423:exon2:c.G246A:p.M82I,T,N,D,T,D,T
chr11,102708100,102708100,C,T,R010_S,MMP3,Missense_Mutation,NM_002422,exon9,c.G1262A,p.G421D,SNP,SNVindel,exonic,MMP3,NA,nonsynonymous SNV,MMP3:NM_002422:exon9:c.G1262A:p.G421D,T,N,D,T,D,T
chr11,103908058,103908058,G,A,R010_S,DDI1,Missense_Mutation,NM_001001711,exon1,c.G508A,p.A170T,SNP,SNVindel,exonic,DDI1,NA,nonsynonymous SNV,DDI1:NM_001001711:exon1:c.G508A:p.A170T,D,D,D,T,D,T
chr11,105789502,105789502,G,A,R010_S,GRIA4,Missense_Mutation,NM_000829,exon11,c.G1334A,p.G445E,SNP,SNVindel,exonic,GRIA4,NA,nonsynonymous SNV,"GRIA4:NM_000829:exon11:c.G1334A:p.G445E,GRIA4:NM_001077243:exon11:c.G1334A:p.G445E",D,D,D,D,D,D
chr11,105929815,105929815,C,T,R010_S,KBTBD3,Missense_Mutation,NM_152433,exon2,c.G10A,p.A4T,SNP,SNVindel,exonic,KBTBD3,NA,nonsynonymous SNV,"KBTBD3:NM_152433:exon2:c.G10A:p.A4T,KBTBD3:NM_198439:exon3:c.G10A:p.A4T",D,N,D,T,N,T
chr11,108352835,108352835,C,T,R010_S,POGLUT3,Missense_Mutation,NM_001363503,exon4,c.G799A,p.D267N,SNP,SNVindel,exonic,POGLUT3,NA,nonsynonymous SNV,"POGLUT3:NM_001363503:exon4:c.G799A:p.D267N,POGLUT3:NM_153705:exon4:c.G799A:p.D267N",T,D,D,T,D,T
chr11,109294855,109294855,C,T,R010_S,C11orf87,Missense_Mutation,NM_207645,exon2,c.C496T,p.P166S,SNP,SNVindel,exonic,C11orf87,NA,nonsynonymous SNV,C11orf87:NM_207645:exon2:c.C496T:p.P166S,D,.,N,.,N,T
chr11,110450157,110450157,G,A,R010_S,ARHGAP20,Silent,NM_001258415,exon15,c.C3444T,p.S1148S,SNP,SNVindel,exonic,ARHGAP20,NA,synonymous SNV,"ARHGAP20:NM_001258415:exon15:c.C3444T:p.S1148S,ARHGAP20:NM_001258417:exon15:c.C3405T:p.S1135S,ARHGAP20:NM_001258418:exon15:c.C3405T:p.S1135S,ARHGAP20:NM_001258416:exon16:c.C3435T:p.S1145S,ARHGAP20:NM_020809:exon16:c.C3513T:p.S1171S",NA,NA,NA,NA,NA,NA
chr11,111899293,111899293,G,A,R010_S,DLAT,Missense_Mutation,NM_001931,exon3,c.G436A,p.A146T,SNP,SNVindel,exonic,DLAT,NA,nonsynonymous SNV,DLAT:NM_001931:exon3:c.G436A:p.A146T,D,D,D,T,N,T
chr11,113270228,113270228,C,T,R010_S,ANKK1,Silent,NM_178510,exon8,c.C1537T,p.L513L,SNP,SNVindel,exonic,ANKK1,NA,synonymous SNV,ANKK1:NM_178510:exon8:c.C1537T:p.L513L,NA,NA,NA,NA,NA,NA
chr11,113803716,113803716,G,A,R010_S,HTR3B,Silent,NM_001363563,exon5,c.G564A,p.K188K,SNP,SNVindel,exonic,HTR3B,NA,synonymous SNV,"HTR3B:NM_001363563:exon5:c.G564A:p.K188K,HTR3B:NM_006028:exon6:c.G597A:p.K199K",NA,NA,NA,NA,NA,NA
chr11,117097956,117097956,C,T,R010_S,PCSK7,Missense_Mutation,NM_004716,exon5,c.G686A,p.G229D,SNP,SNVindel,exonic,PCSK7,NA,nonsynonymous SNV,PCSK7:NM_004716:exon5:c.G686A:p.G229D,D,D,D,D,D,D
chr11,117261772,117261772,G,A,R010_S,CEP164,Silent,NM_001271933,exon16,c.G2133A,p.K711K,SNP,SNVindel,exonic,CEP164,NA,synonymous SNV,"CEP164:NM_001271933:exon16:c.G2133A:p.K711K,CEP164:NM_014956:exon17:c.G2124A:p.K708K",NA,NA,NA,NA,NA,NA
chr11,117280565,117280565,C,T,R010_S,CEP164,Missense_Mutation,NM_001271933,exon29,c.C3965T,p.A1322V,SNP,SNVindel,exonic,CEP164,NA,nonsynonymous SNV,"CEP164:NM_001271933:exon29:c.C3965T:p.A1322V,CEP164:NM_014956:exon30:c.C3980T:p.A1327V",T,N,N,T,N,T
chr11,117870102,117870102,G,A,R010_S,IL10RA,Missense_Mutation,NM_001558,exon7,c.G1483A,p.G495S,SNP,SNVindel,exonic,IL10RA,NA,nonsynonymous SNV,IL10RA:NM_001558:exon7:c.G1483A:p.G495S,D,N,D,T,D,T
chr11,118498260,118498260,G,A,R010_S,PHLDB1,Missense_Mutation,NM_001144758,exon6,c.G721A,p.A241T,SNP,SNVindel,exonic,PHLDB1,NA,nonsynonymous SNV,"PHLDB1:NM_001144758:exon6:c.G721A:p.A241T,PHLDB1:NM_001144759:exon6:c.G721A:p.A241T,PHLDB1:NM_015157:exon7:c.G721A:p.A241T",D,N,D,T,N,T
chr11,118514612,118514612,C,T,R010_S,PHLDB1,Missense_Mutation,NM_001144759,exon13,c.C2831T,p.S944F,SNP,SNVindel,exonic,PHLDB1,NA,nonsynonymous SNV,"PHLDB1:NM_001144759:exon13:c.C2831T:p.S944F,PHLDB1:NM_001144758:exon14:c.C2972T:p.S991F,PHLDB1:NM_015157:exon15:c.C2972T:p.S991F",D,N,D,T,D,T
chr11,118769665,118769665,C,T,R010_S,BCL9L,Missense_Mutation,NM_182557,exon8,c.G3959A,p.G1320E,SNP,SNVindel,exonic,BCL9L,NA,nonsynonymous SNV,BCL9L:NM_182557:exon8:c.G3959A:p.G1320E,D,U,D,T,D,D
chr11,118898392,118898392,G,A,R010_S,SLC37A4,Missense_Mutation,NM_001164280,exon4,c.C571T,p.P191S,SNP,SNVindel,exonic,SLC37A4,NA,nonsynonymous SNV,"SLC37A4:NM_001164280:exon4:c.C571T:p.P191S,SLC37A4:NM_001467:exon5:c.C571T:p.P191S,SLC37A4:NM_001164277:exon6:c.C571T:p.P191S,SLC37A4:NM_001164278:exon6:c.C571T:p.P191S,SLC37A4:NM_001164279:exon6:c.C352T:p.P118S",.,.,.,.,.,.
chr11,119002552,119002552,C,T,R010_S,HINFP,Missense_Mutation,NM_001243259,exon5,c.C536T,p.T179I,SNP,SNVindel,exonic,HINFP,NA,nonsynonymous SNV,"HINFP:NM_001243259:exon5:c.C536T:p.T179I,HINFP:NM_001351957:exon5:c.C605T:p.T202I,HINFP:NM_001351959:exon5:c.C536T:p.T179I,HINFP:NM_001351962:exon5:c.C536T:p.T179I,HINFP:NM_198971:exon5:c.C536T:p.T179I,HINFP:NM_001351958:exon6:c.C536T:p.T179I,HINFP:NM_001351961:exon6:c.C536T:p.T179I,HINFP:NM_015517:exon6:c.C536T:p.T179I,HINFP:NM_001351960:exon7:c.C536T:p.T179I",T,D,D,T,N,T
chr11,119058753,119058753,C,T,R010_S,PDZD3,Silent,NM_001168468,exon7,c.C762T,p.G254G,SNP,SNVindel,exonic,PDZD3,NA,synonymous SNV,"PDZD3:NM_001168468:exon7:c.C762T:p.G254G,PDZD3:NM_024791:exon7:c.C720T:p.G240G",NA,NA,NA,NA,NA,NA
chr11,119243486,119243486,C,T,R010_S,USP2,Silent,NM_004205,exon2,c.G705A,p.T235T,SNP,SNVindel,exonic,USP2,NA,synonymous SNV,USP2:NM_004205:exon2:c.G705A:p.T235T,NA,NA,NA,NA,NA,NA
chr11,119510711,119510711,G,A,R010_S,NECTIN1,Missense_Mutation,NM_203285,exon6,c.C1015T,p.P339S,SNP,SNVindel,exonic,NECTIN1,NA,nonsynonymous SNV,NECTIN1:NM_203285:exon6:c.C1015T:p.P339S,D,.,N,T,N,T
chr11,119547851,119547851,G,A,R010_S,NECTIN1,Missense_Mutation,NM_002855,exon4,c.C812T,p.A271V,SNP,SNVindel,exonic,NECTIN1,NA,nonsynonymous SNV,"NECTIN1:NM_002855:exon4:c.C812T:p.A271V,NECTIN1:NM_203285:exon4:c.C812T:p.A271V,NECTIN1:NM_203286:exon4:c.C812T:p.A271V",T,D,D,T,D,T
chr11,120007964,120007964,G,A,R010_S,TRIM29,Missense_Mutation,NM_012101,exon1,c.C776T,p.T259I,SNP,SNVindel,exonic,TRIM29,NA,nonsynonymous SNV,TRIM29:NM_012101:exon1:c.C776T:p.T259I,D,D,D,T,D,T
chr11,121028754,121028754,C,T,R010_S,TECTA,Missense_Mutation,NM_005422,exon13,c.C4510T,p.R1504C,SNP,SNVindel,exonic,TECTA,NA,nonsynonymous SNV,TECTA:NM_005422:exon13:c.C4510T:p.R1504C,D,D,D,T,D,T
chr11,121323197,121323197,G,A,R010_S,SORL1,Missense_Mutation,NM_003105,exon1,c.G157A,p.G53S,SNP,SNVindel,exonic,SORL1,NA,nonsynonymous SNV,SORL1:NM_003105:exon1:c.G157A:p.G53S,D,N,N,D,N,T
chr11,122659900,122659900,G,A,R010_S,UBASH3B,Silent,NM_001363365,exon6,c.G759A,p.Q253Q,SNP,SNVindel,exonic,UBASH3B,NA,synonymous SNV,"UBASH3B:NM_001363365:exon6:c.G759A:p.Q253Q,UBASH3B:NM_032873:exon6:c.G864A:p.Q288Q",NA,NA,NA,NA,NA,NA
chr11,122733204,122733204,G,A,R010_S,CRTAM,Missense_Mutation,NM_001304782,exon1,c.G88A,p.E30K,SNP,SNVindel,exonic,CRTAM,NA,nonsynonymous SNV,"CRTAM:NM_001304782:exon1:c.G88A:p.E30K,CRTAM:NM_019604:exon6:c.G685A:p.E229K",D,N,N,T,N,T
chr11,122774773,122774773,C,T,R010_S,JHY,Missense_Mutation,NM_001363087,exon3,c.C485T,p.P162L,SNP,SNVindel,exonic,JHY,NA,nonsynonymous SNV,"JHY:NM_001363087:exon3:c.C485T:p.P162L,JHY:NM_001363088:exon3:c.C485T:p.P162L,JHY:NM_001363089:exon3:c.C485T:p.P162L,JHY:NM_024806:exon3:c.C485T:p.P162L,JHY:NM_199124:exon3:c.C485T:p.P162L",D,N,N,T,D,T
chr11,123994485,123994485,C,T,R010_S,VWA5A,Missense_Mutation,NM_014622,exon9,c.C1138T,p.P380S,SNP,SNVindel,exonic,VWA5A,NA,nonsynonymous SNV,"VWA5A:NM_014622:exon9:c.C1138T:p.P380S,VWA5A:NM_198315:exon9:c.C1138T:p.P380S,VWA5A:NM_001130142:exon10:c.C1138T:p.P380S",T,N,N,T,D,T
chr11,124294224,124294224,G,A,R010_S,OR8B4,Missense_Mutation,NM_001005196,exon1,c.C544T,p.P182S,SNP,SNVindel,exonic,OR8B4,NA,nonsynonymous SNV,OR8B4:NM_001005196:exon1:c.C544T:p.P182S,D,D,D,T,D,T
chr11,125617707,125617707,G,A,R010_S,PATE1,Silent,NM_138294,exon4,c.G237A,p.R79R,SNP,SNVindel,exonic,PATE1,NA,synonymous SNV,PATE1:NM_138294:exon4:c.G237A:p.R79R,NA,NA,NA,NA,NA,NA
chr11,126306788,126306788,C,T,R010_S,KIRREL3,Silent,NM_001161707,exon12,c.G1470A,p.R490R,SNP,SNVindel,exonic,KIRREL3,NA,synonymous SNV,"KIRREL3:NM_001161707:exon12:c.G1470A:p.R490R,KIRREL3:NM_001301097:exon12:c.G1470A:p.R490R,KIRREL3:NM_032531:exon12:c.G1470A:p.R490R",NA,NA,NA,NA,NA,NA
chr11,128786407,128786407,C,T,R010_S,KCNJ5,Silent,NM_000890,exon3,c.C1041T,p.D347D,SNP,SNVindel,exonic,KCNJ5,NA,synonymous SNV,"KCNJ5:NM_000890:exon3:c.C1041T:p.D347D,KCNJ5:NM_001354169:exon4:c.C1041T:p.D347D",NA,NA,NA,NA,NA,NA
chr11,130060035,130060035,C,T,R010_S,ST14,Missense_Mutation,NM_021978,exon6,c.C626T,p.T209I,SNP,SNVindel,exonic,ST14,NA,nonsynonymous SNV,ST14:NM_021978:exon6:c.C626T:p.T209I,T,N,N,D,N,T
chr11,130066337,130066337,G,A,R010_S,ST14,Missense_Mutation,NM_021978,exon10,c.G1217A,p.G406E,SNP,SNVindel,exonic,ST14,NA,nonsynonymous SNV,ST14:NM_021978:exon10:c.G1217A:p.G406E,T,N,D,T,D,T
chr11,130289032,130289032,G,A,R010_S,ADAMTS8,Silent,NM_007037,exon2,c.C876T,p.N292N,SNP,SNVindel,exonic,ADAMTS8,NA,synonymous SNV,ADAMTS8:NM_007037:exon2:c.C876T:p.N292N,NA,NA,NA,NA,NA,NA
chr11,130298142,130298142,G,A,R010_S,ADAMTS8,Silent,NM_007037,exon1,c.C40T,p.L14L,SNP,SNVindel,exonic,ADAMTS8,NA,synonymous SNV,ADAMTS8:NM_007037:exon1:c.C40T:p.L14L,NA,NA,NA,NA,NA,NA
chr11,130780256,130780256,C,T,R010_S,SNX19,Missense_Mutation,NM_001347918,exon3,c.G1823A,p.G608D,SNP,SNVindel,exonic,SNX19,NA,nonsynonymous SNV,"SNX19:NM_001347918:exon3:c.G1823A:p.G608D,SNX19:NM_001347919:exon3:c.G1823A:p.G608D,SNX19:NM_001347920:exon3:c.G1823A:p.G608D,SNX19:NM_001347921:exon3:c.G1823A:p.G608D,SNX19:NM_001347923:exon3:c.G98A:p.G33D,SNX19:NM_014758:exon3:c.G1823A:p.G608D,SNX19:NM_001347922:exon4:c.G152A:p.G51D",D,D,D,T,D,T
chr11,134038430,134038430,G,A,R010_S,NCAPD3,Missense_Mutation,NM_015261,exon26,c.C3307T,p.L1103F,SNP,SNVindel,exonic,NCAPD3,NA,nonsynonymous SNV,NCAPD3:NM_015261:exon26:c.C3307T:p.L1103F,D,D,D,T,D,T
chr11,134119107,134119107,G,A,R010_S,THYN1,Missense_Mutation,NM_014174,exon5,c.C434T,p.P145L,SNP,SNVindel,exonic,THYN1,NA,nonsynonymous SNV,"THYN1:NM_014174:exon5:c.C434T:p.P145L,THYN1:NM_001037304:exon6:c.C434T:p.P145L,THYN1:NM_001037305:exon6:c.C434T:p.P145L,THYN1:NM_199297:exon6:c.C434T:p.P145L,THYN1:NM_199298:exon6:c.C434T:p.P145L",D,D,D,.,D,D
chr12,247643,247643,G,A,R010_S,IQSEC3,Missense_Mutation,NM_015232,exon3,c.G205A,p.E69K,SNP,SNVindel,exonic,IQSEC3,NA,nonsynonymous SNV,"IQSEC3:NM_015232:exon3:c.G205A:p.E69K,IQSEC3:NM_001170738:exon4:c.G1114A:p.E372K",D,D,D,T,N,D
chr12,431671,431671,G,A,R010_S,KDM5A,Missense_Mutation,NM_001042603,exon17,c.C2338T,p.L780F,SNP,SNVindel,exonic,KDM5A,NA,nonsynonymous SNV,KDM5A:NM_001042603:exon17:c.C2338T:p.L780F,D,D,D,T,D,T
chr12,675206,675206,G,A,R010_S,NINJ2,Missense_Mutation,NM_001294345,exon2,c.C151T,p.P51S,SNP,SNVindel,exonic,NINJ2,NA,nonsynonymous SNV,"NINJ2:NM_001294345:exon2:c.C151T:p.P51S,NINJ2:NM_001294346:exon2:c.C64T:p.P22S,NINJ2:NM_016533:exon2:c.C172T:p.P58S,NINJ2:NM_001367996:exon3:c.C64T:p.P22S",T,D,D,T,D,T
chr12,1009694,1009694,C,T,R010_S,WNK1,Silent,NM_014823,exon24,c.C5757T,p.L1919L,SNP,SNVindel,exonic,WNK1,NA,synonymous SNV,"WNK1:NM_014823:exon24:c.C5757T:p.L1919L,WNK1:NM_001184985:exon26:c.C7281T:p.L2427L,WNK1:NM_018979:exon26:c.C6501T:p.L2167L,WNK1:NM_213655:exon26:c.C7257T:p.L2419L",NA,NA,NA,NA,NA,NA
chr12,1137599,1137599,G,A,R010_S,ERC1,Missense_Mutation,NM_001301248,exon1,c.G530A,p.S177N,SNP,SNVindel,exonic,ERC1,NA,nonsynonymous SNV,"ERC1:NM_001301248:exon1:c.G530A:p.S177N,ERC1:NM_178039:exon2:c.G530A:p.S177N,ERC1:NM_178040:exon2:c.G530A:p.S177N",D,D,D,D,N,D
chr12,2930433,2930433,C,T,R010_S,ITFG2,Missense_Mutation,NM_018463,exon7,c.C701T,p.T234I,SNP,SNVindel,exonic,ITFG2,NA,nonsynonymous SNV,ITFG2:NM_018463:exon7:c.C701T:p.T234I,T,N,D,.,N,T
chr12,2968393,2968393,G,A,R010_S,FOXM1,Missense_Mutation,NM_001243088,exon8,c.C1658T,p.T553I,SNP,SNVindel,exonic,FOXM1,NA,nonsynonymous SNV,"FOXM1:NM_001243088:exon8:c.C1658T:p.T553I,FOXM1:NM_001243089:exon8:c.C1655T:p.T552I,FOXM1:NM_202003:exon8:c.C1658T:p.T553I,FOXM1:NM_021953:exon9:c.C1703T:p.T568I,FOXM1:NM_202002:exon10:c.C1817T:p.T606I",D,N,N,D,N,T
chr12,3724539,3724539,C,T,R010_S,CRACR2A,Silent,NM_001144958,exon20,c.G2178A,p.K726K,SNP,SNVindel,exonic,CRACR2A,NA,synonymous SNV,CRACR2A:NM_001144958:exon20:c.G2178A:p.K726K,NA,NA,NA,NA,NA,NA
chr12,4655512,4655512,G,A,R010_S,RAD51AP1,Missense_Mutation,NM_006479,exon4,c.G247A,p.E83K,SNP,SNVindel,exonic,RAD51AP1,NA,nonsynonymous SNV,"RAD51AP1:NM_006479:exon4:c.G247A:p.E83K,RAD51AP1:NM_001130862:exon5:c.G298A:p.E100K",D,D,D,T,N,T
chr12,4920485,4920485,G,A,R010_S,KCNA6,Silent,NM_002235,exon1,c.G1278A,p.G426G,SNP,SNVindel,exonic,KCNA6,NA,synonymous SNV,KCNA6:NM_002235:exon1:c.G1278A:p.G426G,NA,NA,NA,NA,NA,NA
chr12,5708732,5708732,G,A,R010_S,ANO2,Silent,NM_001364791,exon20,c.C2151T,p.A717A,SNP,SNVindel,exonic,ANO2,NA,synonymous SNV,"ANO2:NM_001364791:exon20:c.C2151T:p.A717A,ANO2:NM_001278596:exon21:c.C2166T:p.A722A,ANO2:NM_001278597:exon21:c.C2154T:p.A718A",NA,NA,NA,NA,NA,NA
chr12,6457131,6457131,G,A,R010_S,SCNN1A,Missense_Mutation,NM_001159576,exon12,c.C2095T,p.P699S,SNP,SNVindel,exonic,SCNN1A,NA,nonsynonymous SNV,"SCNN1A:NM_001159576:exon12:c.C2095T:p.P699S,SCNN1A:NM_001038:exon13:c.C1918T:p.P640S,SCNN1A:NM_001159575:exon13:c.C1987T:p.P663S",D,D,D,D,D,D
chr12,6882460,6882460,G,A,R010_S,LAG3,Missense_Mutation,NM_002286,exon2,c.G161A,p.S54N,SNP,SNVindel,exonic,LAG3,NA,nonsynonymous SNV,LAG3:NM_002286:exon2:c.G161A:p.S54N,T,N,N,T,N,T
chr12,6969358,6969358,C,T,R010_S,USP5,Missense_Mutation,NM_001098536,exon10,c.C1174T,p.P392S,SNP,SNVindel,exonic,USP5,NA,nonsynonymous SNV,"USP5:NM_001098536:exon10:c.C1174T:p.P392S,USP5:NM_003481:exon10:c.C1174T:p.P392S",D,D,D,T,D,T
chr12,7064121,7064121,C,T,R010_S,PTPN6,Silent,NM_002831,exon4,c.C480T,p.S160S,SNP,SNVindel,exonic,PTPN6,NA,synonymous SNV,"PTPN6:NM_002831:exon4:c.C480T:p.S160S,PTPN6:NM_080548:exon4:c.C486T:p.S162S,PTPN6:NM_080549:exon4:c.C480T:p.S160S",T,.,D,T,N,T
chr12,7069952,7069952,C,T,R010_S,PTPN6,Silent,NM_080549,exon15,c.C1800T,p.P600P,SNP,SNVindel,exonic,PTPN6,NA,synonymous SNV,PTPN6:NM_080549:exon15:c.C1800T:p.P600P,NA,NA,NA,NA,NA,NA
chr12,7556369,7556369,C,T,R010_S,CD163L1,Nonsense_Mutation,NM_001297650,exon6,c.G1200A,p.W400X,SNP,SNVindel,exonic,CD163L1,NA,stopgain,"CD163L1:NM_001297650:exon6:c.G1200A:p.W400X,CD163L1:NM_174941:exon6:c.G1170A:p.W390X",.,.,A,.,.,.
chr12,7864188,7864188,C,T,R010_S,DPPA3,Missense_Mutation,NM_199286,exon1,c.C22T,p.P8S,SNP,SNVindel,exonic,DPPA3,NA,nonsynonymous SNV,DPPA3:NM_199286:exon1:c.C22T:p.P8S,T,.,N,T,D,T
chr12,8083229,8083229,G,A,R010_S,SLC2A3,Silent,NM_006931,exon5,c.C520T,p.L174L,SNP,SNVindel,exonic,SLC2A3,NA,synonymous SNV,SLC2A3:NM_006931:exon5:c.C520T:p.L174L,NA,NA,NA,NA,NA,NA
chr12,8085705,8085705,C,T,R010_S,SLC2A3,Silent,NM_006931,exon3,c.G147A,p.K49K,SNP,SNVindel,exonic,SLC2A3,NA,synonymous SNV,SLC2A3:NM_006931:exon3:c.G147A:p.K49K,NA,NA,NA,NA,NA,NA
chr12,8197540,8197540,C,T,R010_S,FOXJ2,Missense_Mutation,NM_018416,exon6,c.C803T,p.S268F,SNP,SNVindel,exonic,FOXJ2,NA,nonsynonymous SNV,FOXJ2:NM_018416:exon6:c.C803T:p.S268F,D,N,N,D,N,D
chr12,8926131,8926131,C,T,R010_S,RIMKLB,Silent,NM_001297776,exon6,c.C912T,p.A304A,SNP,SNVindel,exonic,RIMKLB,NA,synonymous SNV,"RIMKLB:NM_001297776:exon6:c.C912T:p.A304A,RIMKLB:NM_001352267:exon6:c.C912T:p.A304A,RIMKLB:NM_001352268:exon6:c.C912T:p.A304A,RIMKLB:NM_001352269:exon6:c.C912T:p.A304A,RIMKLB:NM_001352270:exon7:c.C912T:p.A304A,RIMKLB:NM_001352271:exon7:c.C912T:p.A304A,RIMKLB:NM_020734:exon7:c.C912T:p.A304A",NA,NA,NA,NA,NA,NA
chr12,9334707,9334707,C,T,R010_S,PZP,Missense_Mutation,NM_002864,exon14,c.G1553A,p.G518D,SNP,SNVindel,exonic,PZP,NA,nonsynonymous SNV,PZP:NM_002864:exon14:c.G1553A:p.G518D,D,U,N,T,D,T
chr12,10958883,10958883,C,T,R010_S,TAS2R8,Missense_Mutation,NM_023918,exon1,c.G697A,p.A233T,SNP,SNVindel,exonic,TAS2R8,NA,nonsynonymous SNV,TAS2R8:NM_023918:exon1:c.G697A:p.A233T,D,U,N,T,D,T
chr12,11139347,11139347,C,T,R010_S,TAS2R50,Missense_Mutation,NM_176890,exon1,c.G113A,p.R38K,SNP,SNVindel,exonic,TAS2R50,NA,nonsynonymous SNV,TAS2R50:NM_176890:exon1:c.G113A:p.R38K,T,N,N,T,N,T
chr12,11338654,11338654,C,T,R010_S,TAS2R42,Missense_Mutation,NM_181429,exon1,c.G890A,p.R297K,SNP,SNVindel,exonic,TAS2R42,NA,nonsynonymous SNV,TAS2R42:NM_181429:exon1:c.G890A:p.R297K,T,N,N,T,N,T
chr12,11546836,11546836,C,T,R010_S,PRB1,Missense_Mutation,NM_001367912,exon3,c.G176A,p.G59E,SNP,SNVindel,exonic,PRB1;PRB2,NA,nonsynonymous SNV,"PRB1:NM_001367912:exon3:c.G176A:p.G59E,PRB2:NM_006248:exon3:c.G176A:p.G59E",.,.,N,T,D,T
chr12,12317225,12317225,C,T,R010_S,LRP6,Nonsense_Mutation,NM_002336,exon9,c.G2034A,p.W678X,SNP,SNVindel,exonic,LRP6,NA,stopgain,LRP6:NM_002336:exon9:c.G2034A:p.W678X,.,U,A,.,.,.
chr12,12336938,12336938,C,T,R010_S,LRP6,Missense_Mutation,NM_002336,exon5,c.G952A,p.E318K,SNP,SNVindel,exonic,LRP6,NA,nonsynonymous SNV,LRP6:NM_002336:exon5:c.G952A:p.E318K,T,D,D,D,N,D
chr12,12673823,12673823,C,T,R010_S,DUSP16,Silent,NM_030640,exon2,c.G210A,p.Q70Q,SNP,SNVindel,exonic,DUSP16,NA,synonymous SNV,DUSP16:NM_030640:exon2:c.G210A:p.Q70Q,NA,NA,NA,NA,NA,NA
chr12,13717415,13717415,C,T,R010_S,GRIN2B,Silent,NM_000834,exon13,c.G2757A,p.Q919Q,SNP,SNVindel,exonic,GRIN2B,NA,synonymous SNV,GRIN2B:NM_000834:exon13:c.G2757A:p.Q919Q,NA,NA,NA,NA,NA,NA
chr12,14631386,14631386,C,T,R010_S,ATF7IP,Missense_Mutation,NM_001286514,exon12,c.C3074T,p.T1025I,SNP,SNVindel,exonic,ATF7IP,NA,nonsynonymous SNV,"ATF7IP:NM_001286514:exon12:c.C3074T:p.T1025I,ATF7IP:NM_001286515:exon12:c.C3074T:p.T1025I,ATF7IP:NM_018179:exon12:c.C3077T:p.T1026I,ATF7IP:NM_181352:exon12:c.C3101T:p.T1034I",D,D,D,T,N,T
chr12,14836181,14836181,C,T,R010_S,GUCY2C,Missense_Mutation,NM_004963,exon4,c.G406A,p.E136K,SNP,SNVindel,exonic,GUCY2C,NA,nonsynonymous SNV,GUCY2C:NM_004963:exon4:c.G406A:p.E136K,T,N,N,D,N,T
chr12,18491408,18491408,C,T,R010_S,PIK3C2G,Silent,NM_001288772,exon9,c.C1321T,p.L441L,SNP,SNVindel,exonic,PIK3C2G,NA,synonymous SNV,"PIK3C2G:NM_001288772:exon9:c.C1321T:p.L441L,PIK3C2G:NM_001288774:exon9:c.C655T:p.L219L,PIK3C2G:NM_004570:exon9:c.C1321T:p.L441L",NA,NA,NA,NA,NA,NA
chr12,18849138,18849138,C,T,R010_S,PLCZ1,Missense_Mutation,NM_001330769,exon7,c.G658A,p.A220T,SNP,SNVindel,exonic,PLCZ1,NA,nonsynonymous SNV,"PLCZ1:NM_001330769:exon7:c.G658A:p.A220T,PLCZ1:NM_001330774:exon11:c.G925A:p.A309T,PLCZ1:NM_033123:exon11:c.G1237A:p.A413T",T,N,D,T,N,T
chr12,21968812,21968812,G,A,R010_S,ABCC9,Missense_Mutation,NM_005691,exon32,c.C3908T,p.P1303L,SNP,SNVindel,exonic,ABCC9,NA,nonsynonymous SNV,"ABCC9:NM_005691:exon32:c.C3908T:p.P1303L,ABCC9:NM_020297:exon32:c.C3908T:p.P1303L",D,D,D,D,D,D
chr12,25378662,25378662,G,A,R010_S,KRAS,Silent,NM_001369786,exon4,c.C336T,p.V112V,SNP,SNVindel,exonic,KRAS,NA,synonymous SNV,"KRAS:NM_001369786:exon4:c.C336T:p.V112V,KRAS:NM_001369787:exon4:c.C336T:p.V112V,KRAS:NM_004985:exon4:c.C336T:p.V112V,KRAS:NM_033360:exon4:c.C336T:p.V112V",NA,NA,NA,NA,NA,NA
chr12,26808684,26808684,G,A,R010_S,ITPR2,Missense_Mutation,NM_002223,exon20,c.C2546T,p.P849L,SNP,SNVindel,exonic,ITPR2,NA,nonsynonymous SNV,ITPR2:NM_002223:exon20:c.C2546T:p.P849L,T,N,D,D,N,T
chr12,27059316,27059316,C,T,R010_S,INTS13,Missense_Mutation,NM_018164,exon16,c.G2000A,p.R667K,SNP,SNVindel,exonic,INTS13,NA,nonsynonymous SNV,INTS13:NM_018164:exon16:c.G2000A:p.R667K,T,D,D,T,N,T
chr12,27829425,27829425,C,T,R010_S,PPFIBP1,Missense_Mutation,NM_001198915,exon16,c.C1067T,p.T356I,SNP,SNVindel,exonic,PPFIBP1,NA,nonsynonymous SNV,"PPFIBP1:NM_001198915:exon16:c.C1067T:p.T356I,PPFIBP1:NM_001198916:exon17:c.C1433T:p.T478I,PPFIBP1:NM_003622:exon18:c.C1475T:p.T492I,PPFIBP1:NM_177444:exon18:c.C1526T:p.T509I",T,U,N,T,N,T
chr12,29524535,29524535,C,T,R010_S,ERGIC2,Missense_Mutation,NM_016570,exon2,c.G32A,p.S11N,SNP,SNVindel,exonic,ERGIC2,NA,nonsynonymous SNV,ERGIC2:NM_016570:exon2:c.G32A:p.S11N,T,N,D,.,N,T
chr12,29624812,29624812,C,T,R010_S,OVCH1,Silent,NM_001353179,exon16,c.G1884A,p.R628R,SNP,SNVindel,exonic,OVCH1,NA,synonymous SNV,OVCH1:NM_001353179:exon16:c.G1884A:p.R628R,NA,NA,NA,NA,NA,NA
chr12,31551273,31551273,C,T,R010_S,DENND5B,Missense_Mutation,NM_144973,exon17,c.G3092A,p.G1031E,SNP,SNVindel,exonic,DENND5B,NA,nonsynonymous SNV,"DENND5B:NM_144973:exon17:c.G3092A:p.G1031E,DENND5B:NM_001308339:exon19:c.G3197A:p.G1066E",D,D,D,T,D,T
chr12,31552619,31552619,C,T,R010_S,DENND5B,Missense_Mutation,NM_144973,exon16,c.G3037A,p.V1013I,SNP,SNVindel,exonic,DENND5B,NA,nonsynonymous SNV,"DENND5B:NM_144973:exon16:c.G3037A:p.V1013I,DENND5B:NM_001308339:exon18:c.G3142A:p.V1048I",T,D,D,T,N,T
chr12,32260346,32260346,C,T,R010_S,BICD1,Silent,NM_001003398,exon1,c.C81T,p.T27T,SNP,SNVindel,exonic,BICD1,NA,synonymous SNV,"BICD1:NM_001003398:exon1:c.C81T:p.T27T,BICD1:NM_001354186:exon1:c.C81T:p.T27T,BICD1:NM_001354187:exon1:c.C81T:p.T27T,BICD1:NM_001354188:exon1:c.C81T:p.T27T,BICD1:NM_001354189:exon1:c.C81T:p.T27T,BICD1:NM_001363603:exon1:c.C81T:p.T27T,BICD1:NM_001714:exon1:c.C81T:p.T27T",NA,NA,NA,NA,NA,NA
chr12,33031884,33031884,G,A,R010_S,PKP2,Silent,NM_001005242,exon2,c.C306T,p.S102S,SNP,SNVindel,exonic,PKP2,NA,synonymous SNV,"PKP2:NM_001005242:exon2:c.C306T:p.S102S,PKP2:NM_004572:exon2:c.C306T:p.S102S",NA,NA,NA,NA,NA,NA
chr12,40757257,40757257,C,T,R010_S,LRRK2,Missense_Mutation,NM_198578,exon48,c.C7082T,p.T2361I,SNP,SNVindel,exonic,LRRK2,NA,nonsynonymous SNV,LRRK2:NM_198578:exon48:c.C7082T:p.T2361I,D,D,N,T,N,T
chr12,40923009,40923009,C,T,R010_S,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,40940951,40940951,G,T,R010_S,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,40940952,40940952,G,T,R010_S,MUC19,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC19,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr12,43925887,43925887,C,T,R010_S,ADAMTS20,Missense_Mutation,NM_025003,exon3,c.G565A,p.D189N,SNP,SNVindel,exonic,ADAMTS20,NA,nonsynonymous SNV,ADAMTS20:NM_025003:exon3:c.G565A:p.D189N,T,N,N,T,N,T
chr12,44139962,44139962,G,A,R010_S,PUS7L,Missense_Mutation,NM_001271826,exon3,c.C211T,p.L71F,SNP,SNVindel,exonic,PUS7L,NA,nonsynonymous SNV,"PUS7L:NM_001271826:exon3:c.C211T:p.L71F,PUS7L:NM_001098614:exon4:c.C1150T:p.L384F,PUS7L:NM_001098615:exon4:c.C1150T:p.L384F,PUS7L:NM_031292:exon4:c.C1150T:p.L384F",D,D,D,T,D,T
chr12,46123677,46123677,C,T,R010_S,ARID2,Silent,NM_001347839,exon1,c.C58T,p.L20L,SNP,SNVindel,exonic,ARID2,NA,synonymous SNV,"ARID2:NM_001347839:exon1:c.C58T:p.L20L,ARID2:NM_152641:exon1:c.C58T:p.L20L",NA,NA,NA,NA,NA,NA
chr12,46320058,46320058,C,T,R010_S,SCAF11,Nonsense_Mutation,NM_004719,exon11,c.G3426A,p.W1142X,SNP,SNVindel,exonic,SCAF11,NA,stopgain,SCAF11:NM_004719:exon11:c.G3426A:p.W1142X,.,D,A,.,.,.
chr12,47628852,47628852,C,T,R010_S,PCED1B,Silent,NM_001281429,exon3,c.C6T,p.I2I,SNP,SNVindel,exonic,PCED1B,NA,synonymous SNV,"PCED1B:NM_001281429:exon3:c.C6T:p.I2I,PCED1B:NM_138371:exon4:c.C6T:p.I2I",NA,NA,NA,NA,NA,NA
chr12,48096621,48096621,C,T,R010_S,RPAP3,Translation_Start_Site,NM_001146075,exon2,c.G3A,p.M1?,SNP,SNVindel,exonic,RPAP3,NA,startloss,"RPAP3:NM_001146075:exon2:c.G3A:p.M1?,RPAP3:NM_024604:exon2:c.G3A:p.M1?",D,D,D,T,N,T
chr12,49432545,49432545,C,T,R010_S,KMT2D,Missense_Mutation,NM_003482,exon34,c.G8594A,p.G2865D,SNP,SNVindel,exonic,KMT2D,NA,nonsynonymous SNV,KMT2D:NM_003482:exon34:c.G8594A:p.G2865D,D,N,N,T,N,T
chr12,49580116,49580116,C,T,R010_S,TUBA1A,Missense_Mutation,NM_001270399,exon3,c.G352A,p.V118M,SNP,SNVindel,exonic,TUBA1A,NA,nonsynonymous SNV,"TUBA1A:NM_001270399:exon3:c.G352A:p.V118M,TUBA1A:NM_001270400:exon3:c.G247A:p.V83M,TUBA1A:NM_006009:exon3:c.G352A:p.V118M",D,D,D,T,N,D
chr12,49720500,49720500,C,T,R010_S,TROAP,Missense_Mutation,NM_005480,exon7,c.C766T,p.P256S,SNP,SNVindel,exonic,TROAP,NA,nonsynonymous SNV,TROAP:NM_005480:exon7:c.C766T:p.P256S,T,N,D,.,D,T
chr12,49919940,49919940,G,A,R010_S,SPATS2,Missense_Mutation,NM_001293286,exon13,c.G1540A,p.G514R,SNP,SNVindel,exonic,SPATS2,NA,nonsynonymous SNV,"SPATS2:NM_001293286:exon13:c.G1540A:p.G514R,SPATS2:NM_023071:exon14:c.G1540A:p.G514R,SPATS2:NM_001293285:exon15:c.G1540A:p.G514R",D,N,N,.,N,T
chr12,49937786,49937786,C,T,R010_S,KCNH3,Silent,NM_001314030,exon6,c.C732T,p.T244T,SNP,SNVindel,exonic,KCNH3,NA,synonymous SNV,"KCNH3:NM_001314030:exon6:c.C732T:p.T244T,KCNH3:NM_012284:exon6:c.C912T:p.T304T",NA,NA,NA,NA,NA,NA
chr12,49949619,49949619,C,T,R010_S,KCNH3,Missense_Mutation,NM_001314030,exon12,c.C2173T,p.P725S,SNP,SNVindel,exonic,KCNH3,NA,nonsynonymous SNV,"KCNH3:NM_001314030:exon12:c.C2173T:p.P725S,KCNH3:NM_012284:exon12:c.C2353T:p.P785S",T,N,N,D,N,D
chr12,49993380,49993380,C,T,R010_S,FAM186B,Silent,NM_032130,exon4,c.G2043A,p.E681E,SNP,SNVindel,exonic,FAM186B,NA,synonymous SNV,FAM186B:NM_032130:exon4:c.G2043A:p.E681E,NA,NA,NA,NA,NA,NA
chr12,50399104,50399104,C,T,R010_S,RACGAP1,Silent,NM_001320005,exon3,c.G186A,p.E62E,SNP,SNVindel,exonic,RACGAP1,NA,synonymous SNV,"RACGAP1:NM_001320005:exon3:c.G186A:p.E62E,RACGAP1:NM_001320007:exon3:c.G138A:p.E46E,RACGAP1:NM_001126104:exon4:c.G360A:p.E120E,RACGAP1:NM_001319999:exon4:c.G360A:p.E120E,RACGAP1:NM_001320001:exon4:c.G360A:p.E120E,RACGAP1:NM_001320002:exon4:c.G360A:p.E120E,RACGAP1:NM_001320003:exon4:c.G360A:p.E120E,RACGAP1:NM_001320004:exon4:c.G360A:p.E120E,RACGAP1:NM_001320000:exon5:c.G360A:p.E120E,RACGAP1:NM_001320006:exon5:c.G396A:p.E132E,RACGAP1:NM_001126103:exon6:c.G360A:p.E120E,RACGAP1:NM_013277:exon6:c.G360A:p.E120E",NA,NA,NA,NA,NA,NA
chr12,50480109,50480109,G,A,R010_S,SMARCD1,Missense_Mutation,NM_003076,exon2,c.G343A,p.A115T,SNP,SNVindel,exonic,SMARCD1,NA,nonsynonymous SNV,"SMARCD1:NM_003076:exon2:c.G343A:p.A115T,SMARCD1:NM_139071:exon2:c.G343A:p.A115T",T,D,D,D,N,T
chr12,51126305,51126305,G,A,R010_S,DIP2B,Missense_Mutation,NM_173602,exon32,c.G3967A,p.A1323T,SNP,SNVindel,exonic,DIP2B,NA,nonsynonymous SNV,DIP2B:NM_173602:exon32:c.G3967A:p.A1323T,T,D,D,T,D,T
chr12,52408810,52408810,C,T,R010_S,GRASP,Missense_Mutation,NM_001271856,exon7,c.C586T,p.P196S,SNP,SNVindel,exonic,GRASP,NA,nonsynonymous SNV,"GRASP:NM_001271856:exon7:c.C586T:p.P196S,GRASP:NM_181711:exon8:c.C1015T:p.P339S",T,N,D,T,N,T
chr12,52448857,52448857,C,T,R010_S,NR4A1,Missense_Mutation,NM_173157,exon2,c.C745T,p.P249S,SNP,SNVindel,exonic,NR4A1,NA,nonsynonymous SNV,"NR4A1:NM_173157:exon2:c.C745T:p.P249S,NR4A1:NM_001202233:exon3:c.C784T:p.P262S,NR4A1:NM_001202234:exon3:c.C907T:p.P303S,NR4A1:NM_002135:exon3:c.C745T:p.P249S",T,N,D,D,N,T
chr12,52779028,52779028,G,A,R010_S,KRT84,Silent,NM_033045,exon1,c.C342T,p.G114G,SNP,SNVindel,exonic,KRT84,NA,synonymous SNV,KRT84:NM_033045:exon1:c.C342T:p.G114G,NA,NA,NA,NA,NA,NA
chr12,52843276,52843276,C,T,R010_S,KRT6B,Missense_Mutation,NM_005555,exon5,c.G1054A,p.A352T,SNP,SNVindel,exonic,KRT6B,NA,nonsynonymous SNV,KRT6B:NM_005555:exon5:c.G1054A:p.A352T,D,D,D,T,D,D
chr12,52994912,52994912,G,A,R010_S,KRT72,Missense_Mutation,NM_001146225,exon1,c.C325T,p.P109S,SNP,SNVindel,exonic,KRT72,NA,nonsynonymous SNV,"KRT72:NM_001146225:exon1:c.C325T:p.P109S,KRT72:NM_001146226:exon1:c.C325T:p.P109S,KRT72:NM_080747:exon1:c.C325T:p.P109S",D,D,D,T,D,D
chr12,53215792,53215792,C,T,R010_S,KRT79,Missense_Mutation,NM_175834,exon9,c.G1472A,p.G491D,SNP,SNVindel,exonic,KRT79,NA,nonsynonymous SNV,KRT79:NM_175834:exon9:c.G1472A:p.G491D,T,N,N,D,D,T
chr12,53579780,53579780,C,T,R010_S,ZNF740,Missense_Mutation,NM_001004304,exon5,c.C292T,p.P98S,SNP,SNVindel,exonic,ZNF740,NA,nonsynonymous SNV,ZNF740:NM_001004304:exon5:c.C292T:p.P98S,T,D,D,T,N,T
chr12,53876548,53876548,C,T,R010_S,MAP3K12,Missense_Mutation,NM_001193511,exon11,c.G2039A,p.G680D,SNP,SNVindel,exonic,MAP3K12,NA,nonsynonymous SNV,"MAP3K12:NM_001193511:exon11:c.G2039A:p.G680D,MAP3K12:NM_006301:exon12:c.G1940A:p.G647D",T,D,D,T,N,T
chr12,53918400,53918400,G,A,R010_S,ATF7,Missense_Mutation,NM_001366561,exon9,c.C908T,p.S303F,SNP,SNVindel,exonic,ATF7;ATF7-NPFF,NA,nonsynonymous SNV,"ATF7:NM_001366561:exon9:c.C908T:p.S303F,ATF7:NM_001130060:exon10:c.C1010T:p.S337F,ATF7:NM_001366555:exon10:c.C1106T:p.S369F,ATF7:NM_001366556:exon10:c.C1073T:p.S358F,ATF7:NM_001366558:exon10:c.C1073T:p.S358F,ATF7-NPFF:NM_001366559:exon10:c.C1073T:p.S358F,ATF7-NPFF:NM_001366560:exon10:c.C1073T:p.S358F,ATF7:NM_006856:exon10:c.C1073T:p.S358F",T,N,D,T,N,T
chr12,54110119,54110119,C,T,R010_S,CALCOCO1,Silent,NM_020898,exon8,c.G930A,p.Q310Q,SNP,SNVindel,exonic,CALCOCO1,NA,synonymous SNV,CALCOCO1:NM_020898:exon8:c.G930A:p.Q310Q,NA,NA,NA,NA,NA,NA
chr12,54379325,54379325,G,A,R010_S,HOXC10,Silent,NM_017409,exon1,c.G282A,p.R94R,SNP,SNVindel,exonic,HOXC10,NA,synonymous SNV,HOXC10:NM_017409:exon1:c.G282A:p.R94R,NA,NA,NA,NA,NA,NA
chr12,54967001,54967001,G,A,R010_S,PDE1B,Missense_Mutation,NM_001315535,exon5,c.G193A,p.G65S,SNP,SNVindel,exonic,PDE1B,NA,nonsynonymous SNV,"PDE1B:NM_001315535:exon5:c.G193A:p.G65S,PDE1B:NM_001165975:exon7:c.G745A:p.G249S,PDE1B:NM_001288769:exon7:c.G682A:p.G228S,PDE1B:NM_001315534:exon7:c.G394A:p.G132S,PDE1B:NM_000924:exon8:c.G805A:p.G269S,PDE1B:NM_001288768:exon8:c.G394A:p.G132S",D,D,D,D,D,D
chr12,56030740,56030740,C,T,R010_S,OR10P1,Missense_Mutation,NM_206899,exon1,c.C65T,p.A22V,SNP,SNVindel,exonic,OR10P1,NA,nonsynonymous SNV,OR10P1:NM_206899:exon1:c.C65T:p.A22V,T,N,N,T,N,T
chr12,56620159,56620159,C,T,R010_S,NABP2,Missense_Mutation,NM_024068,exon6,c.C392T,p.P131L,SNP,SNVindel,exonic,NABP2,NA,nonsynonymous SNV,NABP2:NM_024068:exon6:c.C392T:p.P131L,D,D,D,T,D,T
chr12,56712075,56712075,C,T,R010_S,PAN2,Missense_Mutation,NM_001127460,exon25,c.G3520A,p.G1174S,SNP,SNVindel,exonic,PAN2,NA,nonsynonymous SNV,"PAN2:NM_001127460:exon25:c.G3520A:p.G1174S,PAN2:NM_001166279:exon25:c.G3517A:p.G1173S,PAN2:NM_014871:exon25:c.G3508A:p.G1170S",D,D,D,T,D,T
chr12,56717886,56717886,C,T,R010_S,PAN2,Missense_Mutation,NM_001127460,exon13,c.G2012A,p.S671N,SNP,SNVindel,exonic,PAN2,NA,nonsynonymous SNV,"PAN2:NM_001127460:exon13:c.G2012A:p.S671N,PAN2:NM_001166279:exon13:c.G2009A:p.S670N,PAN2:NM_014871:exon13:c.G2012A:p.S671N",T,D,D,T,N,T
chr12,56749082,56749082,G,A,R010_S,STAT2,Silent,NM_005419,exon6,c.C525T,p.F175F,SNP,SNVindel,exonic,STAT2,NA,synonymous SNV,"STAT2:NM_005419:exon6:c.C525T:p.F175F,STAT2:NM_198332:exon6:c.C513T:p.F171F",NA,NA,NA,NA,NA,NA
chr12,56811508,56811508,C,T,R010_S,TIMELESS,Missense_Mutation,NM_001330295,exon29,c.G3616A,p.D1206N,SNP,SNVindel,exonic,TIMELESS,NA,nonsynonymous SNV,"TIMELESS:NM_001330295:exon29:c.G3616A:p.D1206N,TIMELESS:NM_003920:exon29:c.G3619A:p.D1207N",T,N,N,T,N,T
chr12,56992672,56992672,C,T,R010_S,BAZ2A,Silent,NM_001300905,exon28,c.G5526A,p.R1842R,SNP,SNVindel,exonic,BAZ2A,NA,synonymous SNV,"BAZ2A:NM_001300905:exon28:c.G5526A:p.R1842R,BAZ2A:NM_013449:exon28:c.G5532A:p.R1844R,BAZ2A:NM_001351156:exon30:c.G5436A:p.R1812R",NA,NA,NA,NA,NA,NA
chr12,57111356,57111356,G,A,R010_S,NACA,Missense_Mutation,NM_001365896,exon3,c.C3958T,p.P1320S,SNP,SNVindel,exonic,NACA,NA,nonsynonymous SNV,NACA:NM_001365896:exon3:c.C3958T:p.P1320S,D,.,N,T,N,T
chr12,57398574,57398574,G,A,R010_S,ZBTB39,Missense_Mutation,NM_014830,exon2,c.C128T,p.A43V,SNP,SNVindel,exonic,ZBTB39,NA,nonsynonymous SNV,ZBTB39:NM_014830:exon2:c.C128T:p.A43V,D,D,D,T,N,D
chr12,57586720,57586720,G,A,R010_S,LRP1,Missense_Mutation,NM_002332,exon45,c.G7522A,p.G2508S,SNP,SNVindel,exonic,LRP1,NA,nonsynonymous SNV,LRP1:NM_002332:exon45:c.G7522A:p.G2508S,T,D,N,D,N,T
chr12,57601838,57601838,G,A,R010_S,LRP1,Missense_Mutation,NM_002332,exon77,c.G11877A,p.M3959I,SNP,SNVindel,exonic,LRP1,NA,nonsynonymous SNV,LRP1:NM_002332:exon77:c.G11877A:p.M3959I,T,D,D,D,N,D
chr12,57989742,57989742,G,A,R010_S,PIP4K2C,Silent,NM_001146258,exon4,c.G441A,p.R147R,SNP,SNVindel,exonic,PIP4K2C,NA,synonymous SNV,"PIP4K2C:NM_001146258:exon4:c.G441A:p.R147R,PIP4K2C:NM_001146259:exon4:c.G387A:p.R129R,PIP4K2C:NM_024779:exon4:c.G441A:p.R147R",NA,NA,NA,NA,NA,NA
chr12,58121813,58121813,C,T,R010_S,AGAP2,Silent,NM_014770,exon14,c.G1605A,p.E535E,SNP,SNVindel,exonic,AGAP2,NA,synonymous SNV,"AGAP2:NM_014770:exon14:c.G1605A:p.E535E,AGAP2:NM_001122772:exon15:c.G2673A:p.E891E",NA,NA,NA,NA,NA,NA
chr12,58130903,58130903,C,T,R010_S,AGAP2,Missense_Mutation,NM_001122772,exon1,c.G1127A,p.G376E,SNP,SNVindel,exonic,AGAP2,NA,nonsynonymous SNV,AGAP2:NM_001122772:exon1:c.G1127A:p.G376E,D,N,D,T,N,T
chr12,58189983,58189983,C,T,R010_S,TSFM,Missense_Mutation,NM_005726,exon6,c.C595T,p.L199F,SNP,SNVindel,exonic,TSFM,NA,nonsynonymous SNV,"TSFM:NM_005726:exon6:c.C595T:p.L199F,TSFM:NM_001172696:exon7:c.C658T:p.L220F",D,N,D,T,D,D
chr12,58190029,58190029,G,A,R010_S,TSFM,Missense_Mutation,NM_005726,exon6,c.G641A,p.G214D,SNP,SNVindel,exonic,TSFM,NA,nonsynonymous SNV,"TSFM:NM_005726:exon6:c.G641A:p.G214D,TSFM:NM_001172696:exon7:c.G704A:p.G235D",D,D,D,T,D,D
chr12,65122788,65122788,C,T,R010_S,GNS,Missense_Mutation,NM_002076,exon10,c.G1148A,p.G383D,SNP,SNVindel,exonic,GNS,NA,nonsynonymous SNV,GNS:NM_002076:exon10:c.G1148A:p.G383D,T,D,D,D,D,D
chr12,65720645,65720645,C,T,R010_S,MSRB3,Missense_Mutation,NM_198080,exon2,c.C137T,p.S46F,SNP,SNVindel,exonic,MSRB3,NA,nonsynonymous SNV,"MSRB3:NM_198080:exon2:c.C137T:p.S46F,MSRB3:NM_001031679:exon3:c.C116T:p.S39F,MSRB3:NM_001193461:exon3:c.C116T:p.S39F,MSRB3:NM_001193460:exon4:c.C116T:p.S39F",D,D,D,T,D,T
chr12,66539690,66539690,G,A,R010_S,TMBIM4,Missense_Mutation,NM_001282609,exon5,c.C395T,p.T132I,SNP,SNVindel,exonic,TMBIM4,NA,nonsynonymous SNV,"TMBIM4:NM_001282609:exon5:c.C395T:p.T132I,TMBIM4:NM_001282610:exon5:c.C302T:p.T101I,TMBIM4:NM_016056:exon5:c.C395T:p.T132I,TMBIM4:NM_001282606:exon6:c.C536T:p.T179I",T,N,D,T,N,T
chr12,66786525,66786525,C,T,R010_S,GRIP1,Missense_Mutation,NM_001178074,exon17,c.G2045A,p.S682N,SNP,SNVindel,exonic,GRIP1,NA,nonsynonymous SNV,"GRIP1:NM_001178074:exon17:c.G2045A:p.S682N,GRIP1:NM_001366723:exon17:c.G2120A:p.S707N,GRIP1:NM_001366724:exon17:c.G2123A:p.S708N,GRIP1:NM_021150:exon17:c.G2045A:p.S682N,GRIP1:NM_001366722:exon18:c.G2201A:p.S734N",D,D,D,T,N,T
chr12,67699435,67699435,C,T,R010_S,CAND1,Nonsense_Mutation,NM_018448,exon10,c.C1987T,p.Q663X,SNP,SNVindel,exonic,CAND1,NA,stopgain,"CAND1:NM_018448:exon10:c.C1987T:p.Q663X,CAND1:NM_001329674:exon11:c.C1915T:p.Q639X,CAND1:NM_001329675:exon11:c.C1915T:p.Q639X,CAND1:NM_001329676:exon11:c.C1888T:p.Q630X",.,D,A,.,.,.
chr12,68720787,68720787,G,A,R010_S,MDM1,Missense_Mutation,NM_001205028,exon3,c.C148T,p.P50S,SNP,SNVindel,exonic,MDM1,NA,nonsynonymous SNV,"MDM1:NM_001205028:exon3:c.C148T:p.P50S,MDM1:NM_001354969:exon3:c.C148T:p.P50S,MDM1:NM_001354970:exon3:c.C133T:p.P45S,MDM1:NM_017440:exon3:c.C148T:p.P50S,MDM1:NM_020128:exon3:c.C148T:p.P50S",D,D,D,T,D,T
chr12,75900173,75900173,C,T,R010_S,KRR1,Missense_Mutation,NM_007043,exon5,c.G526A,p.E176K,SNP,SNVindel,exonic,KRR1,NA,nonsynonymous SNV,KRR1:NM_007043:exon5:c.G526A:p.E176K,D,D,D,T,D,T
chr12,76424799,76424799,G,A,R010_S,PHLDA1,Silent,NM_007350,exon1,c.C723T,p.D241D,SNP,SNVindel,exonic,PHLDA1,NA,synonymous SNV,PHLDA1:NM_007350:exon1:c.C723T:p.D241D,NA,NA,NA,NA,NA,NA
chr12,78510552,78510552,C,T,R010_S,NAV3,Silent,NM_001024383,exon13,c.C2637T,p.S879S,SNP,SNVindel,exonic,NAV3,NA,synonymous SNV,"NAV3:NM_001024383:exon13:c.C2637T:p.S879S,NAV3:NM_014903:exon13:c.C2637T:p.S879S",NA,NA,NA,NA,NA,NA
chr12,80761468,80761468,C,T,R010_S,OTOGL,Silent,NM_173591,exon53,c.C6432T,p.G2144G,SNP,SNVindel,exonic,OTOGL,NA,synonymous SNV,"OTOGL:NM_173591:exon53:c.C6432T:p.G2144G,OTOGL:NM_001368062:exon58:c.C6297T:p.G2099G",NA,NA,NA,NA,NA,NA
chr12,80887073,80887073,C,T,R010_S,PTPRQ,Missense_Mutation,NM_001145026,exon7,c.C863T,p.A288V,SNP,SNVindel,exonic,PTPRQ,NA,nonsynonymous SNV,PTPRQ:NM_001145026:exon7:c.C863T:p.A288V,.,.,N,.,.,T
chr12,80935424,80935424,G,A,R010_S,PTPRQ,Missense_Mutation,NM_001145026,exon18,c.G2729A,p.G910D,SNP,SNVindel,exonic,PTPRQ,NA,nonsynonymous SNV,PTPRQ:NM_001145026:exon18:c.G2729A:p.G910D,.,.,D,.,.,T
chr12,81532991,81532991,A,C,R010_S,ACSS3,Missense_Mutation,NM_001330242,exon4,c.A724C,p.K242Q,SNP,SNVindel,exonic,ACSS3,NA,nonsynonymous SNV,"ACSS3:NM_001330242:exon4:c.A724C:p.K242Q,ACSS3:NM_024560:exon4:c.A727C:p.K243Q",T,D,N,T,N,T
chr12,83359419,83359419,G,A,R010_S,TMTC2,Missense_Mutation,NM_001320321,exon5,c.G1030A,p.E344K,SNP,SNVindel,exonic,TMTC2,NA,nonsynonymous SNV,"TMTC2:NM_001320321:exon5:c.G1030A:p.E344K,TMTC2:NM_001320322:exon6:c.G1765A:p.E589K,TMTC2:NM_152588:exon6:c.G1765A:p.E589K",T,D,D,D,N,T
chr12,86198934,86198934,G,A,R010_S,RASSF9,Missense_Mutation,NM_005447,exon2,c.C854T,p.A285V,SNP,SNVindel,exonic,RASSF9,NA,nonsynonymous SNV,RASSF9:NM_005447:exon2:c.C854T:p.A285V,T,U,N,T,N,T
chr12,88508300,88508300,C,T,R010_S,CEP290,Missense_Mutation,NM_025114,exon20,c.G1949A,p.G650D,SNP,SNVindel,exonic,CEP290,NA,nonsynonymous SNV,CEP290:NM_025114:exon20:c.G1949A:p.G650D,D,D,D,D,D,T
chr12,91449340,91449340,G,A,R010_S,KERA,Missense_Mutation,NM_007035,exon2,c.C719T,p.A240V,SNP,SNVindel,exonic,KERA,NA,nonsynonymous SNV,KERA:NM_007035:exon2:c.C719T:p.A240V,T,D,D,T,N,T
chr12,93101457,93101457,G,A,R010_S,C12orf74,Missense_Mutation,NM_001037671,exon3,c.G539A,p.C180Y,SNP,SNVindel,exonic,C12orf74,NA,nonsynonymous SNV,C12orf74:NM_001037671:exon3:c.G539A:p.C180Y,D,.,N,.,D,T
chr12,93192841,93192841,C,T,R010_S,EEA1,Missense_Mutation,NM_003566,exon21,c.G2794A,p.E932K,SNP,SNVindel,exonic,EEA1,NA,nonsynonymous SNV,EEA1:NM_003566:exon21:c.G2794A:p.E932K,T,N,D,T,N,T
chr12,95656780,95656780,C,T,R010_S,VEZT,Silent,NM_001352090,exon3,c.C267T,p.I89I,SNP,SNVindel,exonic,VEZT,NA,synonymous SNV,"VEZT:NM_001352090:exon3:c.C267T:p.I89I,VEZT:NM_001352089:exon4:c.C357T:p.I119I,VEZT:NM_001352091:exon4:c.C264T:p.I88I,VEZT:NM_001352097:exon4:c.C123T:p.I41I,VEZT:NM_001352098:exon4:c.C357T:p.I119I,VEZT:NM_001352108:exon4:c.C357T:p.I119I,VEZT:NM_001352109:exon4:c.C357T:p.I119I,VEZT:NM_001352110:exon4:c.C357T:p.I119I,VEZT:NM_001352111:exon4:c.C357T:p.I119I,VEZT:NM_001352112:exon4:c.C264T:p.I88I,VEZT:NM_017599:exon4:c.C357T:p.I119I,VEZT:NM_001352088:exon5:c.C414T:p.I138I,VEZT:NM_001352092:exon5:c.C213T:p.I71I,VEZT:NM_001352093:exon5:c.C213T:p.I71I,VEZT:NM_001352096:exon5:c.C213T:p.I71I,VEZT:NM_001352100:exon5:c.C414T:p.I138I,VEZT:NM_001352113:exon5:c.C213T:p.I71I,VEZT:NM_001352094:exon6:c.C213T:p.I71I,VEZT:NM_001352095:exon6:c.C213T:p.I71I",NA,NA,NA,NA,NA,NA
chr12,96356224,96356224,C,T,R010_S,AMDHD1,Missense_Mutation,NM_152435,exon6,c.C905T,p.A302V,SNP,SNVindel,exonic,AMDHD1,NA,nonsynonymous SNV,AMDHD1:NM_152435:exon6:c.C905T:p.A302V,D,D,D,T,D,T
chr12,98926742,98926742,C,T,R010_S,TMPO,Missense_Mutation,NM_003276,exon4,c.C707T,p.T236I,SNP,SNVindel,exonic,TMPO,NA,nonsynonymous SNV,TMPO:NM_003276:exon4:c.C707T:p.T236I,D,N,D,T,N,T
chr12,98927027,98927027,G,A,R010_S,TMPO,Missense_Mutation,NM_003276,exon4,c.G992A,p.G331D,SNP,SNVindel,exonic,TMPO,NA,nonsynonymous SNV,TMPO:NM_003276:exon4:c.G992A:p.G331D,T,N,N,T,N,T
chr12,98987840,98987840,C,T,R010_S,SLC25A3,Silent,NM_213611,exon1,c.C84T,p.D28D,SNP,SNVindel,exonic,SLC25A3,NA,synonymous SNV,"SLC25A3:NM_213611:exon1:c.C84T:p.D28D,SLC25A3:NM_002635:exon2:c.C84T:p.D28D,SLC25A3:NM_005888:exon2:c.C84T:p.D28D",NA,NA,NA,NA,NA,NA
chr12,99548146,99548146,C,T,R010_S,ANKS1B,Missense_Mutation,NM_001204068,exon1,c.G125A,p.G42E,SNP,SNVindel,exonic,ANKS1B,NA,nonsynonymous SNV,"ANKS1B:NM_001204068:exon1:c.G125A:p.G42E,ANKS1B:NM_001204069:exon1:c.G125A:p.G42E,ANKS1B:NM_001204070:exon1:c.G125A:p.G42E,ANKS1B:NM_001352194:exon1:c.G125A:p.G42E,ANKS1B:NM_001352195:exon1:c.G125A:p.G42E,ANKS1B:NM_001352196:exon1:c.G125A:p.G42E,ANKS1B:NM_001352197:exon1:c.G125A:p.G42E,ANKS1B:NM_001352198:exon1:c.G125A:p.G42E,ANKS1B:NM_001352199:exon1:c.G125A:p.G42E,ANKS1B:NM_001352200:exon1:c.G125A:p.G42E,ANKS1B:NM_001352201:exon1:c.G125A:p.G42E,ANKS1B:NM_001352202:exon1:c.G125A:p.G42E,ANKS1B:NM_001352203:exon1:c.G125A:p.G42E,ANKS1B:NM_001352204:exon1:c.G125A:p.G42E,ANKS1B:NM_001352205:exon1:c.G125A:p.G42E,ANKS1B:NM_001352206:exon1:c.G125A:p.G42E,ANKS1B:NM_020140:exon1:c.G125A:p.G42E,ANKS1B:NM_181670:exon1:c.G125A:p.G42E,ANKS1B:NM_001204067:exon2:c.G32A:p.G11E,ANKS1B:NM_001352189:exon2:c.G32A:p.G11E,ANKS1B:NM_001352190:exon2:c.G32A:p.G11E,ANKS1B:NM_001352185:exon15:c.G2447A:p.G816E,ANKS1B:NM_001352186:exon15:c.G2447A:p.G816E,ANKS1B:NM_001352187:exon15:c.G2447A:p.G816E,ANKS1B:NM_001352188:exon15:c.G2447A:p.G816E,ANKS1B:NM_152788:exon15:c.G2447A:p.G816E",T,D,D,T,D,T
chr12,99837504,99837504,G,A,R010_S,ANKS1B,Missense_Mutation,NM_001352185,exon11,c.C1522T,p.P508S,SNP,SNVindel,exonic,ANKS1B,NA,nonsynonymous SNV,"ANKS1B:NM_001352185:exon11:c.C1522T:p.P508S,ANKS1B:NM_001352186:exon11:c.C1522T:p.P508S,ANKS1B:NM_001352187:exon11:c.C1522T:p.P508S,ANKS1B:NM_001352188:exon11:c.C1522T:p.P508S,ANKS1B:NM_152788:exon11:c.C1522T:p.P508S",D,D,D,T,N,T
chr12,100166701,100166701,A,G,R010_S,ANKS1B,Missense_Mutation,NM_001352185,exon8,c.T1127C,p.V376A,SNP,SNVindel,exonic,ANKS1B,NA,nonsynonymous SNV,"ANKS1B:NM_001352185:exon8:c.T1127C:p.V376A,ANKS1B:NM_001352186:exon8:c.T1127C:p.V376A,ANKS1B:NM_001352187:exon8:c.T1127C:p.V376A,ANKS1B:NM_001352188:exon8:c.T1127C:p.V376A,ANKS1B:NM_152788:exon8:c.T1127C:p.V376A",D,D,D,T,N,T
chr12,100166710,100166710,C,T,R010_S,ANKS1B,Missense_Mutation,NM_001352185,exon8,c.G1118A,p.S373N,SNP,SNVindel,exonic,ANKS1B,NA,nonsynonymous SNV,"ANKS1B:NM_001352185:exon8:c.G1118A:p.S373N,ANKS1B:NM_001352186:exon8:c.G1118A:p.S373N,ANKS1B:NM_001352187:exon8:c.G1118A:p.S373N,ANKS1B:NM_001352188:exon8:c.G1118A:p.S373N,ANKS1B:NM_152788:exon8:c.G1118A:p.S373N",D,D,D,T,N,T
chr12,100656148,100656148,C,T,R010_S,DEPDC4,Silent,NM_001319310,exon3,c.G594A,p.E198E,SNP,SNVindel,exonic,DEPDC4,NA,synonymous SNV,"DEPDC4:NM_001319310:exon3:c.G594A:p.E198E,DEPDC4:NM_001319311:exon3:c.G594A:p.E198E,DEPDC4:NM_001364818:exon3:c.G594A:p.E198E,DEPDC4:NM_152317:exon3:c.G594A:p.E198E",NA,NA,NA,NA,NA,NA
chr12,102117045,102117045,C,T,R010_S,CHPT1,Missense_Mutation,NM_020244,exon6,c.C880T,p.P294S,SNP,SNVindel,exonic,CHPT1,NA,nonsynonymous SNV,CHPT1:NM_020244:exon6:c.C880T:p.P294S,T,D,D,T,D,T
chr12,102813456,102813456,C,T,R010_S,IGF1,Missense_Mutation,NM_000618,exon3,c.G233A,p.G78E,SNP,SNVindel,exonic,IGF1,NA,nonsynonymous SNV,"IGF1:NM_000618:exon3:c.G233A:p.G78E,IGF1:NM_001111283:exon3:c.G233A:p.G78E,IGF1:NM_001111284:exon3:c.G185A:p.G62E,IGF1:NM_001111285:exon3:c.G233A:p.G78E",D,D,D,D,D,D
chr12,104067733,104067733,G,A,R010_S,STAB2,Missense_Mutation,NM_017564,exon23,c.G2420A,p.G807E,SNP,SNVindel,exonic,STAB2,NA,nonsynonymous SNV,STAB2:NM_017564:exon23:c.G2420A:p.G807E,D,D,D,T,D,T
chr12,104089552,104089552,C,T,R010_S,STAB2,Missense_Mutation,NM_017564,exon33,c.C3512T,p.A1171V,SNP,SNVindel,exonic,STAB2,NA,nonsynonymous SNV,STAB2:NM_017564:exon33:c.C3512T:p.A1171V,T,N,N,D,N,D
chr12,104089601,104089601,G,A,R010_S,STAB2,Silent,NM_017564,exon33,c.G3561A,p.R1187R,SNP,SNVindel,exonic,STAB2,NA,synonymous SNV,STAB2:NM_017564:exon33:c.G3561A:p.R1187R,NA,NA,NA,NA,NA,NA
chr12,105558041,105558041,C,T,R010_S,WASHC4,Nonsense_Mutation,NM_001293640,exon31,c.C3313T,p.Q1105X,SNP,SNVindel,exonic,WASHC4,NA,stopgain,"WASHC4:NM_001293640:exon31:c.C3313T:p.Q1105X,WASHC4:NM_015275:exon31:c.C3310T:p.Q1104X",.,D,A,.,.,.
chr12,105560657,105560657,G,A,R010_S,WASHC4,Missense_Mutation,NM_001293640,exon33,c.G3473A,p.S1158N,SNP,SNVindel,exonic,WASHC4,NA,nonsynonymous SNV,"WASHC4:NM_001293640:exon33:c.G3473A:p.S1158N,WASHC4:NM_015275:exon33:c.G3470A:p.S1157N",T,N,D,T,N,T
chr12,105629757,105629757,C,T,R010_S,APPL2,Missense_Mutation,NM_001251904,exon1,c.G34A,p.A12T,SNP,SNVindel,exonic,APPL2,NA,nonsynonymous SNV,"APPL2:NM_001251904:exon1:c.G34A:p.A12T,APPL2:NM_018171:exon1:c.G34A:p.A12T",T,D,D,T,N,T
chr12,105760444,105760444,G,A,R010_S,C12orf75,Missense_Mutation,NM_001145199,exon4,c.G157A,p.V53M,SNP,SNVindel,exonic,C12orf75,NA,nonsynonymous SNV,C12orf75:NM_001145199:exon4:c.G157A:p.V53M,D,.,A,.,N,T
chr12,107712861,107712861,C,T,R010_S,BTBD11,Silent,NM_001018072,exon1,c.C144T,p.G48G,SNP,SNVindel,exonic,BTBD11,NA,synonymous SNV,"BTBD11:NM_001018072:exon1:c.C144T:p.G48G,BTBD11:NM_001347943:exon1:c.C144T:p.G48G",NA,NA,NA,NA,NA,NA
chr12,108589775,108589775,G,A,R010_S,WSCD2,Missense_Mutation,NM_014653,exon2,c.G166A,p.G56R,SNP,SNVindel,exonic,WSCD2,NA,nonsynonymous SNV,"WSCD2:NM_014653:exon2:c.G166A:p.G56R,WSCD2:NM_001304447:exon3:c.G166A:p.G56R",T,N,D,T,N,T
chr12,108913033,108913033,C,T,R010_S,FICD,Silent,NM_007076,exon3,c.C1158T,p.Y386Y,SNP,SNVindel,exonic,FICD,NA,synonymous SNV,FICD:NM_007076:exon3:c.C1158T:p.Y386Y,NA,NA,NA,NA,NA,NA
chr12,109182216,109182216,G,A,R010_S,SSH1,Missense_Mutation,NM_018984,exon15,c.C2698T,p.P900S,SNP,SNVindel,exonic,SSH1,NA,nonsynonymous SNV,SSH1:NM_018984:exon15:c.C2698T:p.P900S,T,N,N,T,N,T
chr12,109182413,109182413,C,T,R010_S,SSH1,Missense_Mutation,NM_018984,exon15,c.G2501A,p.S834N,SNP,SNVindel,exonic,SSH1,NA,nonsynonymous SNV,SSH1:NM_018984:exon15:c.G2501A:p.S834N,T,N,N,T,N,T
chr12,109186257,109186257,C,T,R010_S,SSH1,Silent,NM_001161331,exon13,c.G1731A,p.K577K,SNP,SNVindel,exonic,SSH1,NA,synonymous SNV,"SSH1:NM_001161331:exon13:c.G1731A:p.K577K,SSH1:NM_001161330:exon14:c.G1698A:p.K566K,SSH1:NM_018984:exon14:c.G1698A:p.K566K",NA,NA,NA,NA,NA,NA
chr12,109192882,109192882,G,A,R010_S,SSH1,Missense_Mutation,NM_001161331,exon12,c.C1276T,p.P426S,SNP,SNVindel,exonic,SSH1,NA,nonsynonymous SNV,"SSH1:NM_001161331:exon12:c.C1276T:p.P426S,SSH1:NM_001161330:exon13:c.C1243T:p.P415S,SSH1:NM_018984:exon13:c.C1243T:p.P415S",T,N,D,T,N,T
chr12,109523573,109523573,G,A,R010_S,USP30,Missense_Mutation,NM_032663,exon13,c.G1391A,p.R464K,SNP,SNVindel,exonic,USP30,NA,nonsynonymous SNV,"USP30:NM_032663:exon13:c.G1391A:p.R464K,USP30:NM_001301175:exon16:c.G1298A:p.R433K",T,N,N,T,N,T
chr12,109719374,109719374,G,A,R010_S,FOXN4,Missense_Mutation,NM_213596,exon9,c.C1132T,p.P378S,SNP,SNVindel,exonic,FOXN4,NA,nonsynonymous SNV,FOXN4:NM_213596:exon9:c.C1132T:p.P378S,T,D,D,D,D,D
chr12,109838911,109838911,G,A,R010_S,MYO1H,Missense_Mutation,NM_001101421,exon5,c.G536A,p.G179D,SNP,SNVindel,exonic,MYO1H,NA,nonsynonymous SNV,MYO1H:NM_001101421:exon5:c.G536A:p.G179D,D,.,D,D,D,D
chr12,109924314,109924314,C,A,R010_S,UBE3B,Silent,NM_001270449,exon6,c.C381A,p.T127T,SNP,SNVindel,exonic,UBE3B,NA,synonymous SNV,"UBE3B:NM_001270449:exon6:c.C381A:p.T127T,UBE3B:NM_001270450:exon6:c.C381A:p.T127T,UBE3B:NM_001270451:exon6:c.C381A:p.T127T,UBE3B:NM_130466:exon6:c.C381A:p.T127T,UBE3B:NM_183415:exon6:c.C381A:p.T127T",NA,NA,NA,NA,NA,NA
chr12,110252420,110252420,C,T,R010_S,TRPV4,Missense_Mutation,NM_001177428,exon1,c.G182A,p.G61D,SNP,SNVindel,exonic,TRPV4,NA,nonsynonymous SNV,"TRPV4:NM_001177428:exon1:c.G182A:p.G61D,TRPV4:NM_001177433:exon1:c.G182A:p.G61D,TRPV4:NM_147204:exon1:c.G182A:p.G61D,TRPV4:NM_001177431:exon2:c.G80A:p.G27D,TRPV4:NM_021625:exon2:c.G182A:p.G61D",D,U,N,D,N,T
chr12,110340984,110340984,G,A,R010_S,TCHP,Silent,NM_001143852,exon2,c.G153A,p.Q51Q,SNP,SNVindel,exonic,TCHP,NA,synonymous SNV,"TCHP:NM_001143852:exon2:c.G153A:p.Q51Q,TCHP:NM_032300:exon2:c.G153A:p.Q51Q",NA,NA,NA,NA,NA,NA
chr12,110719704,110719704,G,A,R010_S,ATP2A2,Missense_Mutation,NM_001681,exon1,c.G110A,p.G37D,SNP,SNVindel,exonic,ATP2A2,NA,nonsynonymous SNV,"ATP2A2:NM_001681:exon1:c.G110A:p.G37D,ATP2A2:NM_170665:exon1:c.G110A:p.G37D",D,D,D,D,D,D
chr12,110760830,110760830,C,T,R010_S,ATP2A2,Missense_Mutation,NM_001681,exon6,c.C497T,p.T166I,SNP,SNVindel,exonic,ATP2A2,NA,nonsynonymous SNV,"ATP2A2:NM_001681:exon6:c.C497T:p.T166I,ATP2A2:NM_170665:exon6:c.C497T:p.T166I",T,D,D,D,N,T
chr12,110765622,110765622,G,A,R010_S,ATP2A2,Missense_Mutation,NM_001681,exon8,c.G895A,p.A299T,SNP,SNVindel,exonic,ATP2A2,NA,nonsynonymous SNV,"ATP2A2:NM_001681:exon8:c.G895A:p.A299T,ATP2A2:NM_170665:exon8:c.G895A:p.A299T",D,D,D,D,D,D
chr12,110952880,110952880,T,G,R010_S,RAD9B,Missense_Mutation,NM_001368051,exon5,c.T298G,p.F100V,SNP,SNVindel,exonic,RAD9B,NA,nonsynonymous SNV,"RAD9B:NM_001368051:exon5:c.T298G:p.F100V,RAD9B:NM_001286531:exon6:c.T298G:p.F100V,RAD9B:NM_001286532:exon6:c.T298G:p.F100V,RAD9B:NM_001286535:exon6:c.T514G:p.F172V,RAD9B:NM_001368052:exon6:c.T514G:p.F172V,RAD9B:NM_001368053:exon6:c.T298G:p.F100V,RAD9B:NM_152442:exon6:c.T514G:p.F172V,RAD9B:NM_001286533:exon7:c.T40G:p.F14V,RAD9B:NM_001286534:exon7:c.T40G:p.F14V",D,D,D,T,D,T
chr12,112183948,112183948,G,A,R010_S,ACAD10,Missense_Mutation,NM_025247,exon14,c.G2116A,p.E706K,SNP,SNVindel,exonic,ACAD10,NA,nonsynonymous SNV,"ACAD10:NM_025247:exon14:c.G2116A:p.E706K,ACAD10:NM_001136538:exon15:c.G2209A:p.E737K",T,N,D,D,N,D
chr12,112460435,112460435,G,A,R010_S,ERP29,Silent,NM_006817,exon3,c.G765A,p.G255G,SNP,SNVindel,exonic,ERP29,NA,synonymous SNV,ERP29:NM_006817:exon3:c.G765A:p.G255G,NA,NA,NA,NA,NA,NA
chr12,112622659,112622659,C,T,R010_S,HECTD4,Missense_Mutation,NM_001109662,exon61,c.G10141A,p.D3381N,SNP,SNVindel,exonic,HECTD4,NA,nonsynonymous SNV,HECTD4:NM_001109662:exon61:c.G10141A:p.D3381N,.,.,D,.,.,T
chr12,112673566,112673566,G,A,R010_S,HECTD4,Silent,NM_001109662,exon36,c.C5497T,p.L1833L,SNP,SNVindel,exonic,HECTD4,NA,synonymous SNV,HECTD4:NM_001109662:exon36:c.C5497T:p.L1833L,NA,NA,NA,NA,NA,NA
chr12,112681548,112681548,C,T,R010_S,HECTD4,Missense_Mutation,NM_001109662,exon31,c.G4697A,p.S1566N,SNP,SNVindel,exonic,HECTD4,NA,nonsynonymous SNV,HECTD4:NM_001109662:exon31:c.G4697A:p.S1566N,.,.,D,.,.,T
chr12,112688043,112688043,G,A,R010_S,HECTD4,Silent,NM_001109662,exon25,c.C3885T,p.Y1295Y,SNP,SNVindel,exonic,HECTD4,NA,synonymous SNV,HECTD4:NM_001109662:exon25:c.C3885T:p.Y1295Y,NA,NA,NA,NA,NA,NA
chr12,113316936,113316936,C,T,R010_S,RPH3A,Missense_Mutation,NM_001347955,exon13,c.C983T,p.A328V,SNP,SNVindel,exonic,RPH3A,NA,nonsynonymous SNV,"RPH3A:NM_001347955:exon13:c.C983T:p.A328V,RPH3A:NM_014954:exon13:c.C1172T:p.A391V,RPH3A:NM_001143854:exon14:c.C1184T:p.A395V,RPH3A:NM_001347952:exon14:c.C1184T:p.A395V,RPH3A:NM_001347953:exon14:c.C1184T:p.A395V,RPH3A:NM_001347954:exon14:c.C1184T:p.A395V",D,N,D,T,N,T
chr12,113531412,113531412,C,T,R010_S,DTX1,Silent,NM_004416,exon4,c.C1072T,p.L358L,SNP,SNVindel,exonic,DTX1,NA,synonymous SNV,DTX1:NM_004416:exon4:c.C1072T:p.L358L,NA,NA,NA,NA,NA,NA
chr12,113596705,113596705,C,T,R010_S,DDX54,Missense_Mutation,NM_001111322,exon20,c.G2626A,p.G876S,SNP,SNVindel,exonic,DDX54,NA,nonsynonymous SNV,"DDX54:NM_001111322:exon20:c.G2626A:p.G876S,DDX54:NM_024072:exon20:c.G2623A:p.G875S",D,D,D,T,N,T
chr12,113730849,113730849,G,A,R010_S,TPCN1,Missense_Mutation,NM_001301214,exon25,c.G2020A,p.E674K,SNP,SNVindel,exonic,TPCN1,NA,nonsynonymous SNV,"TPCN1:NM_001301214:exon25:c.G2020A:p.E674K,TPCN1:NM_001351347:exon25:c.G2020A:p.E674K,TPCN1:NM_017901:exon26:c.G2224A:p.E742K,TPCN1:NM_001143819:exon27:c.G2440A:p.E814K,TPCN1:NM_001351346:exon27:c.G2020A:p.E674K",T,N,N,T,N,T
chr12,113875693,113875693,G,A,R010_S,SDSL,Missense_Mutation,NM_001304993,exon8,c.G799A,p.D267N,SNP,SNVindel,exonic,SDSL,NA,nonsynonymous SNV,"SDSL:NM_001304993:exon8:c.G799A:p.D267N,SDSL:NM_138432:exon9:c.G799A:p.D267N",D,N,D,D,D,T
chr12,116429422,116429422,G,A,R010_S,MED13L,Silent,NM_015335,exon17,c.C3337T,p.L1113L,SNP,SNVindel,exonic,MED13L,NA,synonymous SNV,MED13L:NM_015335:exon17:c.C3337T:p.L1113L,NA,NA,NA,NA,NA,NA
chr12,117612072,117612072,G,A,R010_S,FBXO21,Nonsense_Mutation,NM_015002,exon6,c.C814T,p.Q272X,SNP,SNVindel,exonic,FBXO21,NA,stopgain,"FBXO21:NM_015002:exon6:c.C814T:p.Q272X,FBXO21:NM_033624:exon6:c.C814T:p.Q272X",.,D,A,.,.,.
chr12,117914340,117914340,G,A,R010_S,KSR2,Silent,NM_173598,exon17,c.C2511T,p.I837I,SNP,SNVindel,exonic,KSR2,NA,synonymous SNV,KSR2:NM_173598:exon17:c.C2511T:p.I837I,NA,NA,NA,NA,NA,NA
chr12,119594512,119594512,G,A,R010_S,SRRM4,Missense_Mutation,NM_194286,exon13,c.G1745A,p.R582Q,SNP,SNVindel,exonic,SRRM4,NA,nonsynonymous SNV,SRRM4:NM_194286:exon13:c.G1745A:p.R582Q,D,U,N,T,N,T
chr12,120593123,120593123,G,A,R010_S,GCN1,Silent,NM_006836,exon30,c.C3552T,p.S1184S,SNP,SNVindel,exonic,GCN1,NA,synonymous SNV,GCN1:NM_006836:exon30:c.C3552T:p.S1184S,NA,NA,NA,NA,NA,NA
chr12,120784048,120784048,G,A,R010_S,MSI1,Missense_Mutation,NM_002442,exon13,c.C937T,p.P313S,SNP,SNVindel,exonic,MSI1,NA,nonsynonymous SNV,MSI1:NM_002442:exon13:c.C937T:p.P313S,D,D,D,T,D,T
chr12,120876226,120876226,G,A,R010_S,COX6A1,Missense_Mutation,NM_004373,exon2,c.G148A,p.V50M,SNP,SNVindel,exonic,COX6A1,NA,nonsynonymous SNV,COX6A1:NM_004373:exon2:c.G148A:p.V50M,T,D,D,.,N,T
chr12,121204075,121204075,G,A,R010_S,SPPL3,Silent,NM_139015,exon10,c.C1074T,p.A358A,SNP,SNVindel,exonic,SPPL3,NA,synonymous SNV,SPPL3:NM_139015:exon10:c.C1074T:p.A358A,NA,NA,NA,NA,NA,NA
chr12,121229324,121229324,C,T,R010_S,SPPL3,Silent,NM_139015,exon3,c.G138A,p.E46E,SNP,SNVindel,exonic,SPPL3,NA,synonymous SNV,SPPL3:NM_139015:exon3:c.G138A:p.E46E,NA,NA,NA,NA,NA,NA
chr12,121442000,121442000,G,A,R010_S,C12orf43,Missense_Mutation,NM_001286197,exon5,c.C649T,p.P217S,SNP,SNVindel,exonic,C12orf43,NA,nonsynonymous SNV,"C12orf43:NM_001286197:exon5:c.C649T:p.P217S,C12orf43:NM_001286191:exon6:c.C838T:p.P280S,C12orf43:NM_001286192:exon6:c.C748T:p.P250S,C12orf43:NM_001286195:exon6:c.C715T:p.P239S,C12orf43:NM_001286196:exon6:c.C712T:p.P238S,C12orf43:NM_022895:exon6:c.C745T:p.P249S,C12orf43:NM_001286198:exon7:c.C622T:p.P208S",T,N,N,T,N,T
chr12,121471527,121471527,C,T,R010_S,OASL,Missense_Mutation,NM_001261825,exon2,c.G218A,p.G73D,SNP,SNVindel,exonic,OASL,NA,nonsynonymous SNV,"OASL:NM_001261825:exon2:c.G218A:p.G73D,OASL:NM_003733:exon2:c.G218A:p.G73D,OASL:NM_198213:exon2:c.G218A:p.G73D",D,D,N,T,D,T
chr12,121877734,121877734,G,A,R010_S,KDM2B,Missense_Mutation,NM_001005366,exon21,c.C3548T,p.T1183I,SNP,SNVindel,exonic,KDM2B,NA,nonsynonymous SNV,"KDM2B:NM_001005366:exon21:c.C3548T:p.T1183I,KDM2B:NM_032590:exon22:c.C3755T:p.T1252I",D,N,D,T,D,T
chr12,121970739,121970739,C,T,R010_S,KDM2B,Silent,NM_001005366,exon8,c.G810A,p.K270K,SNP,SNVindel,exonic,KDM2B,NA,synonymous SNV,"KDM2B:NM_001005366:exon8:c.G810A:p.K270K,KDM2B:NM_032590:exon8:c.G903A:p.K301K",NA,NA,NA,NA,NA,NA
chr12,122257624,122257624,G,A,R010_S,SETD1B,Missense_Mutation,NM_001353345,exon10,c.G3733A,p.E1245K,SNP,SNVindel,exonic,SETD1B,NA,nonsynonymous SNV,SETD1B:NM_001353345:exon10:c.G3733A:p.E1245K,T,N,N,T,N,T
chr12,122618358,122618358,C,T,R010_S,MLXIP,Missense_Mutation,NM_014938,exon9,c.C1556T,p.A519V,SNP,SNVindel,exonic,MLXIP,NA,nonsynonymous SNV,MLXIP:NM_014938:exon9:c.C1556T:p.A519V,T,N,N,D,N,T
chr12,122958692,122958692,G,A,R010_S,ZCCHC8,Silent,NM_001350935,exon11,c.C1245T,p.T415T,SNP,SNVindel,exonic,ZCCHC8,NA,synonymous SNV,"ZCCHC8:NM_001350935:exon11:c.C1245T:p.T415T,ZCCHC8:NM_001350938:exon11:c.C762T:p.T254T,ZCCHC8:NM_001350937:exon12:c.C762T:p.T254T,ZCCHC8:NM_001350936:exon13:c.C1179T:p.T393T,ZCCHC8:NM_017612:exon14:c.C1476T:p.T492T",NA,NA,NA,NA,NA,NA
chr12,122999721,122999721,C,T,R010_S,RSRC2,Missense_Mutation,NM_023012,exon6,c.G656A,p.R219Q,SNP,SNVindel,exonic,RSRC2,NA,nonsynonymous SNV,RSRC2:NM_023012:exon6:c.G656A:p.R219Q,T,D,D,T,N,T
chr12,123213956,123213956,C,T,R010_S,HCAR1,Missense_Mutation,NM_032554,exon1,c.G931A,p.E311K,SNP,SNVindel,exonic,HCAR1,NA,nonsynonymous SNV,HCAR1:NM_032554:exon1:c.G931A:p.E311K,T,N,N,T,N,T
chr12,123338711,123338711,C,T,R010_S,HIP1R,Silent,NM_001303097,exon8,c.C699T,p.L233L,SNP,SNVindel,exonic,HIP1R,NA,synonymous SNV,"HIP1R:NM_001303097:exon8:c.C699T:p.L233L,HIP1R:NM_001303099:exon8:c.C663T:p.L221L,HIP1R:NM_003959:exon8:c.C699T:p.L233L",NA,NA,NA,NA,NA,NA
chr12,123345686,123345686,G,A,R010_S,HIP1R,Missense_Mutation,NM_003959,exon30,c.G2899A,p.D967N,SNP,SNVindel,exonic,HIP1R,NA,nonsynonymous SNV,HIP1R:NM_003959:exon30:c.G2899A:p.D967N,D,D,D,T,D,D
chr12,123920673,123920673,C,T,R010_S,RILPL2,Missense_Mutation,NM_145058,exon1,c.G295A,p.E99K,SNP,SNVindel,exonic,RILPL2,NA,nonsynonymous SNV,RILPL2:NM_145058:exon1:c.G295A:p.E99K,T,N,D,T,N,T
chr12,124422210,124422210,G,A,R010_S,CCDC92,Silent,NM_001304961,exon4,c.C340T,p.L114L,SNP,SNVindel,exonic,CCDC92,NA,synonymous SNV,"CCDC92:NM_001304961:exon4:c.C340T:p.L114L,CCDC92:NM_001304957:exon5:c.C391T:p.L131L,CCDC92:NM_001304959:exon5:c.C391T:p.L131L,CCDC92:NM_025140:exon5:c.C391T:p.L131L,CCDC92:NM_001304958:exon6:c.C391T:p.L131L,CCDC92:NM_001304960:exon7:c.C391T:p.L131L",NA,NA,NA,NA,NA,NA
chr12,124799029,124799029,C,T,R010_S,RFLNA,Silent,NM_001365156,exon3,c.C609T,p.C203C,SNP,SNVindel,exonic,RFLNA;ZNF664-RFLNA,NA,synonymous SNV,"RFLNA:NM_001365156:exon3:c.C609T:p.C203C,RFLNA:NM_181709:exon3:c.C366T:p.C122C,ZNF664-RFLNA:NM_001204299:exon5:c.C366T:p.C122C,ZNF664-RFLNA:NM_001347902:exon5:c.C366T:p.C122C",NA,NA,NA,NA,NA,NA
chr12,124821439,124821439,G,A,R010_S,NCOR2,Missense_Mutation,NM_001077261,exon39,c.C5945T,p.A1982V,SNP,SNVindel,exonic,NCOR2,NA,nonsynonymous SNV,"NCOR2:NM_001077261:exon39:c.C5945T:p.A1982V,NCOR2:NM_001206654:exon39:c.C5945T:p.A1982V,NCOR2:NM_006312:exon40:c.C5975T:p.A1992V",D,N,N,T,N,T
chr12,125263051,125263051,C,T,R010_S,SCARB1,Missense_Mutation,NM_001367987,exon10,c.G1285A,p.D429N,SNP,SNVindel,exonic,SCARB1,NA,nonsynonymous SNV,"SCARB1:NM_001367987:exon10:c.G1285A:p.D429N,SCARB1:NM_001082959:exon12:c.G1483A:p.D495N",D,.,D,T,N,T
chr12,129181866,129181866,C,T,R010_S,TMEM132C,Missense_Mutation,NM_001136103,exon8,c.C2027T,p.A676V,SNP,SNVindel,exonic,TMEM132C,NA,nonsynonymous SNV,TMEM132C:NM_001136103:exon8:c.C2027T:p.A676V,D,N,D,T,N,T
chr12,129181940,129181940,G,A,R010_S,TMEM132C,Missense_Mutation,NM_001136103,exon8,c.G2101A,p.V701M,SNP,SNVindel,exonic,TMEM132C,NA,nonsynonymous SNV,TMEM132C:NM_001136103:exon8:c.G2101A:p.V701M,T,N,N,T,N,T
chr12,129308142,129308142,C,T,R010_S,SLC15A4,Missense_Mutation,NM_145648,exon1,c.G347A,p.G116D,SNP,SNVindel,exonic,SLC15A4,NA,nonsynonymous SNV,SLC15A4:NM_145648:exon1:c.G347A:p.G116D,D,U,D,T,D,T
chr12,129411682,129411682,G,A,R010_S,GLT1D1,Missense_Mutation,NM_001366888,exon4,c.G190A,p.V64M,SNP,SNVindel,exonic,GLT1D1,NA,nonsynonymous SNV,"GLT1D1:NM_001366888:exon4:c.G190A:p.V64M,GLT1D1:NM_001366887:exon7:c.G472A:p.V158M,GLT1D1:NM_001366886:exon8:c.G598A:p.V200M,GLT1D1:NM_001366889:exon9:c.G646A:p.V216M",D,.,D,D,N,T
chr12,132445422,132445422,C,T,R010_S,EP400,Silent,NM_015409,exon2,c.C258T,p.N86N,SNP,SNVindel,exonic,EP400,NA,synonymous SNV,EP400:NM_015409:exon2:c.C258T:p.N86N,NA,NA,NA,NA,NA,NA
chr12,132471188,132471188,C,T,R010_S,EP400,Missense_Mutation,NM_015409,exon6,c.C2059T,p.P687S,SNP,SNVindel,exonic,EP400,NA,nonsynonymous SNV,EP400:NM_015409:exon6:c.C2059T:p.P687S,D,N,N,D,N,T
chr12,132549349,132549349,C,T,R010_S,EP400,Missense_Mutation,NM_015409,exon48,c.C8471T,p.P2824L,SNP,SNVindel,exonic,EP400,NA,nonsynonymous SNV,EP400:NM_015409:exon48:c.C8471T:p.P2824L,D,D,D,D,D,D
chr12,132626734,132626734,G,A,R010_S,DDX51,Missense_Mutation,NM_175066,exon5,c.C818T,p.A273V,SNP,SNVindel,exonic,DDX51,NA,nonsynonymous SNV,DDX51:NM_175066:exon5:c.C818T:p.A273V,T,N,D,T,N,T
chr12,133148909,133148909,C,T,R010_S,FBRSL1,Silent,NM_001142641,exon10,c.C1467T,p.Y489Y,SNP,SNVindel,exonic,FBRSL1,NA,synonymous SNV,"FBRSL1:NM_001142641:exon10:c.C1467T:p.Y489Y,FBRSL1:NM_001367871:exon10:c.C1413T:p.Y471Y",NA,NA,NA,NA,NA,NA
chr12,133218309,133218309,C,T,R010_S,POLE,Missense_Mutation,NM_006231,exon39,c.G5302A,p.D1768N,SNP,SNVindel,exonic,POLE,NA,nonsynonymous SNV,POLE:NM_006231:exon39:c.G5302A:p.D1768N,D,D,D,T,D,T
chr12,133357449,133357449,G,A,R010_S,GOLGA3,Missense_Mutation,NM_005895,exon18,c.C3517T,p.L1173F,SNP,SNVindel,exonic,GOLGA3,NA,nonsynonymous SNV,GOLGA3:NM_005895:exon18:c.C3517T:p.L1173F,T,D,D,T,N,T
chr12,133360843,133360843,C,T,R010_S,GOLGA3,Silent,NM_001172557,exon16,c.G3174A,p.K1058K,SNP,SNVindel,exonic,GOLGA3,NA,synonymous SNV,"GOLGA3:NM_001172557:exon16:c.G3174A:p.K1058K,GOLGA3:NM_005895:exon16:c.G3174A:p.K1058K",NA,NA,NA,NA,NA,NA
chr12,133698391,133698391,C,T,R010_S,ZNF891,Nonsense_Mutation,NM_001277291,exon2,c.G114A,p.W38X,SNP,SNVindel,exonic,ZNF891,NA,stopgain,ZNF891:NM_001277291:exon2:c.G114A:p.W38X,.,.,.,.,.,.
chr13,23907622,23907622,C,A,R010_S,SACS,Missense_Mutation,NM_001278055,exon8,c.G9952T,p.V3318L,SNP,SNVindel,exonic,SACS,NA,nonsynonymous SNV,"SACS:NM_001278055:exon8:c.G9952T:p.V3318L,SACS:NM_014363:exon10:c.G10393T:p.V3465L",T,N,N,D,N,T
chr13,23929750,23929750,G,A,R010_S,SACS,Missense_Mutation,NM_001278055,exon6,c.C560T,p.T187I,SNP,SNVindel,exonic,SACS,NA,nonsynonymous SNV,"SACS:NM_001278055:exon6:c.C560T:p.T187I,SACS:NM_014363:exon8:c.C1001T:p.T334I",D,D,D,D,N,D
chr13,24858314,24858314,G,A,R010_S,SPATA13,Missense_Mutation,NM_001286793,exon2,c.G97A,p.D33N,SNP,SNVindel,exonic,SPATA13,NA,nonsynonymous SNV,"SPATA13:NM_001286793:exon2:c.G97A:p.D33N,SPATA13:NM_001286795:exon2:c.G97A:p.D33N,SPATA13:NM_001286794:exon3:c.G163A:p.D55N,SPATA13:NM_153023:exon4:c.G331A:p.D111N,SPATA13:NM_001166271:exon5:c.G2206A:p.D736N,SPATA13:NM_001286792:exon7:c.G2392A:p.D798N",D,D,D,T,D,D
chr13,25073509,25073509,C,T,R010_S,PARP4,Missense_Mutation,NM_006437,exon5,c.G407A,p.G136D,SNP,SNVindel,exonic,PARP4,NA,nonsynonymous SNV,PARP4:NM_006437:exon5:c.G407A:p.G136D,T,N,N,T,N,T
chr13,25487086,25487086,C,T,R010_S,CENPJ,Silent,NM_018451,exon2,c.G78A,p.R26R,SNP,SNVindel,exonic,CENPJ,NA,synonymous SNV,CENPJ:NM_018451:exon2:c.G78A:p.R26R,NA,NA,NA,NA,NA,NA
chr13,25671432,25671432,G,A,R010_S,PABPC3,Missense_Mutation,NM_030979,exon1,c.G1096A,p.A366T,SNP,SNVindel,exonic,PABPC3,NA,nonsynonymous SNV,PABPC3:NM_030979:exon1:c.G1096A:p.A366T,D,U,D,T,D,T
chr13,26043136,26043136,G,A,R010_S,ATP8A2,Missense_Mutation,NM_016529,exon2,c.G98A,p.G33D,SNP,SNVindel,exonic,ATP8A2,NA,nonsynonymous SNV,ATP8A2:NM_016529:exon2:c.G98A:p.G33D,T,N,D,T,N,T
chr13,28597546,28597546,C,T,R010_S,FLT3,Missense_Mutation,NM_004119,exon19,c.G2359A,p.D787N,SNP,SNVindel,exonic,FLT3,NA,nonsynonymous SNV,FLT3:NM_004119:exon19:c.G2359A:p.D787N,D,D,D,D,D,D
chr13,28844911,28844911,C,T,R010_S,PAN3,Silent,NM_175854,exon13,c.C1866T,p.V622V,SNP,SNVindel,exonic,PAN3,NA,synonymous SNV,PAN3:NM_175854:exon13:c.C1866T:p.V622V,NA,NA,NA,NA,NA,NA
chr13,30857887,30857887,C,T,R010_S,KATNAL1,Missense_Mutation,NM_001014380,exon2,c.G28A,p.A10T,SNP,SNVindel,exonic,KATNAL1,NA,nonsynonymous SNV,"KATNAL1:NM_001014380:exon2:c.G28A:p.A10T,KATNAL1:NM_032116:exon2:c.G28A:p.A10T",T,D,D,T,N,T
chr13,33332765,33332765,G,A,R010_S,PDS5B,Missense_Mutation,NM_015032,exon28,c.G3283A,p.A1095T,SNP,SNVindel,exonic,PDS5B,NA,nonsynonymous SNV,PDS5B:NM_015032:exon28:c.G3283A:p.A1095T,T,D,D,.,N,T
chr13,37598300,37598300,C,T,R010_S,SUPT20H,Missense_Mutation,NM_001014286,exon19,c.G1463A,p.S488N,SNP,SNVindel,exonic,SUPT20H,NA,nonsynonymous SNV,"SUPT20H:NM_001014286:exon19:c.G1463A:p.S488N,SUPT20H:NM_001278480:exon19:c.G1463A:p.S488N,SUPT20H:NM_001278481:exon19:c.G1466A:p.S489N,SUPT20H:NM_001278482:exon19:c.G1466A:p.S489N,SUPT20H:NM_017569:exon19:c.G1466A:p.S489N",T,D,N,T,N,T
chr13,38145508,38145508,C,T,R010_S,POSTN,Missense_Mutation,NM_001135935,exon17,c.G2096A,p.G699E,SNP,SNVindel,exonic,POSTN,NA,nonsynonymous SNV,"POSTN:NM_001135935:exon17:c.G2096A:p.G699E,POSTN:NM_001286665:exon17:c.G2096A:p.G699E,POSTN:NM_001330517:exon18:c.G2177A:p.G726E,POSTN:NM_006475:exon18:c.G2177A:p.G726E",T,N,D,D,N,D
chr13,38161967,38161967,G,A,R010_S,POSTN,Missense_Mutation,NM_001135934,exon5,c.C598T,p.P200S,SNP,SNVindel,exonic,POSTN,NA,nonsynonymous SNV,"POSTN:NM_001135934:exon5:c.C598T:p.P200S,POSTN:NM_001135935:exon5:c.C598T:p.P200S,POSTN:NM_001135936:exon5:c.C598T:p.P200S,POSTN:NM_001286665:exon5:c.C598T:p.P200S,POSTN:NM_001286666:exon5:c.C598T:p.P200S,POSTN:NM_001286667:exon5:c.C598T:p.P200S,POSTN:NM_001330517:exon5:c.C598T:p.P200S,POSTN:NM_006475:exon5:c.C598T:p.P200S",T,D,D,D,N,T
chr13,41943335,41943335,G,A,R010_S,NAA16,Silent,NM_024561,exon15,c.G1863A,p.Q621Q,SNP,SNVindel,exonic,NAA16,NA,synonymous SNV,NAA16:NM_024561:exon15:c.G1863A:p.Q621Q,NA,NA,NA,NA,NA,NA
chr13,42729447,42729447,G,A,R010_S,DGKH,Silent,NM_152910,exon4,c.G405A,p.R135R,SNP,SNVindel,exonic,DGKH,NA,synonymous SNV,"DGKH:NM_152910:exon4:c.G405A:p.R135R,DGKH:NM_178009:exon4:c.G405A:p.R135R,DGKH:NM_001204504:exon5:c.G405A:p.R135R",NA,NA,NA,NA,NA,NA
chr13,42752301,42752301,C,T,R010_S,DGKH,Missense_Mutation,NM_001297429,exon9,c.C748T,p.H250Y,SNP,SNVindel,exonic,DGKH,NA,nonsynonymous SNV,"DGKH:NM_001297429:exon9:c.C748T:p.H250Y,DGKH:NM_001204505:exon11:c.C1075T:p.H359Y,DGKH:NM_001204506:exon11:c.C1075T:p.H359Y,DGKH:NM_152910:exon13:c.C1483T:p.H495Y,DGKH:NM_178009:exon13:c.C1483T:p.H495Y,DGKH:NM_001204504:exon14:c.C1483T:p.H495Y",D,D,D,T,D,D
chr13,46705028,46705028,C,T,R010_S,LCP1,Missense_Mutation,NM_002298,exon15,c.G1672A,p.A558T,SNP,SNVindel,exonic,LCP1,NA,nonsynonymous SNV,LCP1:NM_002298:exon15:c.G1672A:p.A558T,T,D,D,D,N,D
chr13,52544737,52544737,G,A,R010_S,ATP7B,Silent,NM_000053,exon3,c.C1434T,p.S478S,SNP,SNVindel,exonic,ATP7B,NA,synonymous SNV,"ATP7B:NM_000053:exon3:c.C1434T:p.S478S,ATP7B:NM_001005918:exon3:c.C1434T:p.S478S,ATP7B:NM_001330578:exon3:c.C1434T:p.S478S,ATP7B:NM_001330579:exon3:c.C1434T:p.S478S,ATP7B:NM_001243182:exon4:c.C1101T:p.S367S",NA,NA,NA,NA,NA,NA
chr13,52726796,52726796,C,T,R010_S,NEK3,Missense_Mutation,NM_001146099,exon5,c.G341A,p.G114E,SNP,SNVindel,exonic,NEK3,NA,nonsynonymous SNV,"NEK3:NM_001146099:exon5:c.G341A:p.G114E,NEK3:NM_002498:exon5:c.G341A:p.G114E,NEK3:NM_152720:exon5:c.G341A:p.G114E",.,D,D,.,.,T
chr13,58208517,58208517,C,T,R010_S,PCDH17,Silent,NM_001040429,exon1,c.C1837T,p.L613L,SNP,SNVindel,exonic,PCDH17,NA,synonymous SNV,PCDH17:NM_001040429:exon1:c.C1837T:p.L613L,NA,NA,NA,NA,NA,NA
chr13,76374865,76374865,G,A,R010_S,LMO7,Missense_Mutation,NM_001366633,exon5,c.G382A,p.G128S,SNP,SNVindel,exonic,LMO7,NA,nonsynonymous SNV,"LMO7:NM_001366633:exon5:c.G382A:p.G128S,LMO7:NM_001306080:exon7:c.G508A:p.G170S,LMO7:NM_005358:exon8:c.G664A:p.G222S",D,D,D,T,D,T
chr13,95840796,95840796,C,T,R010_S,ABCC4,Missense_Mutation,NM_001301830,exon9,c.G1039A,p.A347T,SNP,SNVindel,exonic,ABCC4,NA,nonsynonymous SNV,"ABCC4:NM_001301830:exon9:c.G1039A:p.A347T,ABCC4:NM_001105515:exon10:c.G1264A:p.A422T,ABCC4:NM_001301829:exon10:c.G1264A:p.A422T,ABCC4:NM_005845:exon10:c.G1264A:p.A422T",T,N,D,D,N,T
chr13,96229485,96229485,G,A,R010_S,CLDN10,Silent,NM_001160100,exon4,c.G402A,p.K134K,SNP,SNVindel,exonic,CLDN10,NA,synonymous SNV,"CLDN10:NM_001160100:exon4:c.G402A:p.K134K,CLDN10:NM_006984:exon4:c.G465A:p.K155K,CLDN10:NM_182848:exon4:c.G459A:p.K153K",NA,NA,NA,NA,NA,NA
chr13,96293740,96293740,C,T,R010_S,DZIP1,Missense_Mutation,NM_014934,exon5,c.G406A,p.E136K,SNP,SNVindel,exonic,DZIP1,NA,nonsynonymous SNV,"DZIP1:NM_014934:exon5:c.G406A:p.E136K,DZIP1:NM_198968:exon5:c.G406A:p.E136K",D,D,D,T,D,T
chr13,96624899,96624899,C,T,R010_S,UGGT2,Silent,NM_020121,exon11,c.G1119A,p.Q373Q,SNP,SNVindel,exonic,UGGT2,NA,synonymous SNV,UGGT2:NM_020121:exon11:c.G1119A:p.Q373Q,NA,NA,NA,NA,NA,NA
chr13,97999164,97999164,C,T,R010_S,MBNL2,Missense_Mutation,NM_001306070,exon5,c.C647T,p.T216I,SNP,SNVindel,exonic,MBNL2,NA,nonsynonymous SNV,"MBNL2:NM_001306070:exon5:c.C647T:p.T216I,MBNL2:NM_144778:exon5:c.C647T:p.T216I,MBNL2:NM_207304:exon5:c.C647T:p.T216I",T,D,D,T,D,T
chr13,99020432,99020432,C,T,R010_S,FARP1,Silent,NM_001286839,exon5,c.C381T,p.L127L,SNP,SNVindel,exonic,FARP1,NA,synonymous SNV,"FARP1:NM_001286839:exon5:c.C381T:p.L127L,FARP1:NM_005766:exon5:c.C381T:p.L127L",NA,NA,NA,NA,NA,NA
chr13,99482000,99482000,G,A,R010_S,DOCK9,Missense_Mutation,NM_001366677,exon42,c.C4589T,p.S1530F,SNP,SNVindel,exonic,DOCK9,NA,nonsynonymous SNV,"DOCK9:NM_001366677:exon42:c.C4589T:p.S1530F,DOCK9:NM_001366679:exon42:c.C4553T:p.S1518F,DOCK9:NM_001366680:exon42:c.C4553T:p.S1518F,DOCK9:NM_001366681:exon42:c.C4646T:p.S1549F,DOCK9:NM_001366682:exon42:c.C4646T:p.S1549F,DOCK9:NM_001366683:exon42:c.C4646T:p.S1549F,DOCK9:NM_001366684:exon42:c.C4646T:p.S1549F",D,D,D,T,D,D
chr13,101180002,101180002,G,A,R010_S,PCCA,Missense_Mutation,NM_001352607,exon21,c.G1895A,p.G632D,SNP,SNVindel,exonic,PCCA,NA,nonsynonymous SNV,"PCCA:NM_001352607:exon21:c.G1895A:p.G632D,PCCA:NM_001352608:exon21:c.G1892A:p.G631D,PCCA:NM_001352611:exon21:c.G1115A:p.G372D,PCCA:NM_001352612:exon21:c.G1025A:p.G342D,PCCA:NM_001127692:exon22:c.G2036A:p.G679D,PCCA:NM_001178004:exon22:c.G1973A:p.G658D,PCCA:NM_001352605:exon22:c.G2060A:p.G687D,PCCA:NM_001352606:exon22:c.G1970A:p.G657D,PCCA:NM_001352610:exon22:c.G1169A:p.G390D,PCCA:NM_000282:exon23:c.G2114A:p.G705D",D,D,D,D,D,D
chr13,103390692,103390692,C,T,R010_S,CCDC168,Missense_Mutation,NM_001146197,exon4,c.G12355A,p.E4119K,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.G12355A:p.E4119K,.,.,.,.,.,.
chr13,103401668,103401668,G,A,R010_S,CCDC168,Missense_Mutation,NM_001146197,exon4,c.C1379T,p.S460F,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.C1379T:p.S460F,.,.,.,.,.,.
chr13,103402530,103402530,C,T,R010_S,CCDC168,Missense_Mutation,NM_001146197,exon4,c.G517A,p.E173K,SNP,SNVindel,exonic,CCDC168,NA,nonsynonymous SNV,CCDC168:NM_001146197:exon4:c.G517A:p.E173K,.,.,.,.,.,.
chr13,103528178,103528178,C,T,R010_S,BIVM-ERCC5,Silent,NM_000123,exon15,c.C3486T,p.L1162L,SNP,SNVindel,exonic,BIVM-ERCC5;ERCC5,NA,synonymous SNV,"ERCC5:NM_000123:exon15:c.C3486T:p.L1162L,BIVM-ERCC5:NM_001204425:exon23:c.C4848T:p.L1616L",NA,NA,NA,NA,NA,NA
chr13,110434727,110434727,G,A,R010_S,IRS2,Missense_Mutation,NM_003749,exon1,c.C3674T,p.P1225L,SNP,SNVindel,exonic,IRS2,NA,nonsynonymous SNV,IRS2:NM_003749:exon1:c.C3674T:p.P1225L,D,U,N,T,N,T
chr13,111329406,111329406,C,T,R010_S,CARS2,Missense_Mutation,NM_001352253,exon7,c.G700A,p.A234T,SNP,SNVindel,exonic,CARS2,NA,nonsynonymous SNV,"CARS2:NM_001352253:exon7:c.G700A:p.A234T,CARS2:NM_024537:exon7:c.G700A:p.A234T",T,N,D,T,D,T
chr13,111353793,111353793,C,T,R010_S,CARS2,Missense_Mutation,NM_001352253,exon3,c.G385A,p.A129T,SNP,SNVindel,exonic,CARS2,NA,nonsynonymous SNV,"CARS2:NM_001352253:exon3:c.G385A:p.A129T,CARS2:NM_024537:exon3:c.G385A:p.A129T",D,D,D,T,D,D
chr13,111372214,111372214,G,A,R010_S,ING1,Missense_Mutation,NM_001267728,exon2,c.G724A,p.E242K,SNP,SNVindel,exonic,ING1,NA,nonsynonymous SNV,"ING1:NM_001267728:exon2:c.G724A:p.E242K,ING1:NM_005537:exon2:c.G1204A:p.E402K,ING1:NM_198217:exon2:c.G643A:p.E215K,ING1:NM_198218:exon2:c.G568A:p.E190K,ING1:NM_198219:exon2:c.G775A:p.E259K",D,D,D,T,D,T
chr13,112722294,112722294,C,T,R010_S,SOX1,Missense_Mutation,NM_005986,exon1,c.C322T,p.R108C,SNP,SNVindel,exonic,SOX1,NA,nonsynonymous SNV,SOX1:NM_005986:exon1:c.C322T:p.R108C,D,U,D,D,D,D
chr13,113980239,113980239,C,T,R010_S,GRTP1,Missense_Mutation,NM_001286732,exon6,c.G730A,p.V244M,SNP,SNVindel,exonic,GRTP1,NA,nonsynonymous SNV,"GRTP1:NM_001286732:exon6:c.G730A:p.V244M,GRTP1:NM_024719:exon6:c.G730A:p.V244M",D,D,D,T,D,T
chr13,114303722,114303722,C,T,R010_S,ATP4B,Silent,NM_000705,exon7,c.G843A,p.G281G,SNP,SNVindel,exonic,ATP4B,NA,synonymous SNV,ATP4B:NM_000705:exon7:c.G843A:p.G281G,NA,NA,NA,NA,NA,NA
chr13,114321743,114321743,C,T,R010_S,GRK1,Silent,NM_002929,exon1,c.C42T,p.A14A,SNP,SNVindel,exonic,GRK1,NA,synonymous SNV,GRK1:NM_002929:exon1:c.C42T:p.A14A,NA,NA,NA,NA,NA,NA
chr13,114535453,114535453,G,A,R010_S,GAS6,Missense_Mutation,NM_000820,exon10,c.C962T,p.A321V,SNP,SNVindel,exonic,GAS6,NA,nonsynonymous SNV,GAS6:NM_000820:exon10:c.C962T:p.A321V,D,.,D,T,D,D
chr13,114782755,114782755,C,T,R010_S,RASA3,Silent,NM_001320822,exon12,c.G1068A,p.G356G,SNP,SNVindel,exonic,RASA3,NA,synonymous SNV,"RASA3:NM_001320822:exon12:c.G1068A:p.G356G,RASA3:NM_007368:exon12:c.G1164A:p.G388G,RASA3:NM_001320821:exon14:c.G15A:p.G5G",NA,NA,NA,NA,NA,NA
chr13,114897920,114897920,C,T,R010_S,RASA3,Silent,NM_007368,exon1,c.G45A,p.K15K,SNP,SNVindel,exonic,RASA3,NA,synonymous SNV,RASA3:NM_007368:exon1:c.G45A:p.K15K,NA,NA,NA,NA,NA,NA
chr14,20248554,20248554,C,G,R010_S,OR4M1,Missense_Mutation,NM_001005500,exon1,c.C73G,p.L25V,SNP,SNVindel,exonic,OR4M1,NA,nonsynonymous SNV,OR4M1:NM_001005500:exon1:c.C73G:p.L25V,T,N,N,T,N,T
chr14,20665650,20665650,C,T,R010_S,OR11G2,Silent,NM_001005503,exon1,c.C156T,p.L52L,SNP,SNVindel,exonic,OR11G2,NA,synonymous SNV,OR11G2:NM_001005503:exon1:c.C156T:p.L52L,NA,NA,NA,NA,NA,NA
chr14,20929384,20929384,G,A,R010_S,PIP4P1,Missense_Mutation,NM_001100814,exon1,c.C101T,p.P34L,SNP,SNVindel,exonic,PIP4P1,NA,nonsynonymous SNV,"PIP4P1:NM_001100814:exon1:c.C101T:p.P34L,PIP4P1:NM_144568:exon1:c.C101T:p.P34L",T,N,D,.,N,T
chr14,20978832,20978832,C,T,R010_S,RNASE10,Silent,NM_001012975,exon1,c.C202T,p.L68L,SNP,SNVindel,exonic,RNASE10,NA,synonymous SNV,RNASE10:NM_001012975:exon1:c.C202T:p.L68L,NA,NA,NA,NA,NA,NA
chr14,21167770,21167770,C,T,R010_S,RNASE4,Silent,NM_001282193,exon2,c.C240T,p.N80N,SNP,SNVindel,exonic,RNASE4,NA,synonymous SNV,"RNASE4:NM_001282193:exon2:c.C240T:p.N80N,RNASE4:NM_002937:exon2:c.C240T:p.N80N,RNASE4:NM_194431:exon2:c.C240T:p.N80N,RNASE4:NM_001282192:exon3:c.C240T:p.N80N",NA,NA,NA,NA,NA,NA
chr14,21542835,21542835,C,T,R010_S,ARHGEF40,Missense_Mutation,NM_018071,exon3,c.C946T,p.P316S,SNP,SNVindel,exonic,ARHGEF40,NA,nonsynonymous SNV,ARHGEF40:NM_018071:exon3:c.C946T:p.P316S,T,N,N,T,N,T
chr14,21545040,21545040,G,A,R010_S,ARHGEF40,Silent,NM_018071,exon8,c.G2025A,p.E675E,SNP,SNVindel,exonic,ARHGEF40,NA,synonymous SNV,ARHGEF40:NM_018071:exon8:c.G2025A:p.E675E,NA,NA,NA,NA,NA,NA
chr14,21552109,21552109,G,A,R010_S,ARHGEF40,Missense_Mutation,NM_001278529,exon17,c.G1547A,p.S516N,SNP,SNVindel,exonic,ARHGEF40,NA,nonsynonymous SNV,"ARHGEF40:NM_001278529:exon17:c.G1547A:p.S516N,ARHGEF40:NM_001278530:exon17:c.G1547A:p.S516N,ARHGEF40:NM_018071:exon17:c.G3689A:p.S1230N",T,D,N,T,N,T
chr14,21793192,21793192,G,A,R010_S,RPGRIP1,Silent,NM_020366,exon14,c.G2178A,p.E726E,SNP,SNVindel,exonic,RPGRIP1,NA,synonymous SNV,RPGRIP1:NM_020366:exon14:c.G2178A:p.E726E,NA,NA,NA,NA,NA,NA
chr14,21840062,21840062,G,A,R010_S,SUPT16H,Missense_Mutation,NM_007192,exon3,c.C301T,p.P101S,SNP,SNVindel,exonic,SUPT16H,NA,nonsynonymous SNV,SUPT16H:NM_007192:exon3:c.C301T:p.P101S,T,D,D,.,D,T
chr14,21931876,21931876,G,A,R010_S,RAB2B,Missense_Mutation,NM_001163380,exon5,c.C275T,p.A92V,SNP,SNVindel,exonic,RAB2B,NA,nonsynonymous SNV,"RAB2B:NM_001163380:exon5:c.C275T:p.A92V,RAB2B:NM_032846:exon6:c.C413T:p.A138V",D,D,D,D,D,D
chr14,21992665,21992665,C,T,R010_S,SALL2,Silent,NM_001364564,exon2,c.G1191A,p.R397R,SNP,SNVindel,exonic,SALL2,NA,synonymous SNV,"SALL2:NM_001364564:exon2:c.G1191A:p.R397R,SALL2:NM_005407:exon2:c.G1197A:p.R399R,SALL2:NM_001291446:exon3:c.G792A:p.R264R,SALL2:NM_001291447:exon3:c.G786A:p.R262R",NA,NA,NA,NA,NA,NA
chr14,23236531,23236531,G,A,R010_S,OXA1L,Silent,NM_005015,exon2,c.G138A,p.P46P,SNP,SNVindel,exonic,OXA1L,NA,synonymous SNV,OXA1L:NM_005015:exon2:c.G138A:p.P46P,NA,NA,NA,NA,NA,NA
chr14,23245433,23245433,C,T,R010_S,SLC7A7,Missense_Mutation,NM_001126105,exon6,c.G865A,p.D289N,SNP,SNVindel,exonic,SLC7A7,NA,nonsynonymous SNV,"SLC7A7:NM_001126105:exon6:c.G865A:p.D289N,SLC7A7:NM_001126106:exon6:c.G865A:p.D289N",D,D,D,D,N,D
chr14,23345117,23345117,C,T,R010_S,LRP10,Silent,NM_001329226,exon5,c.C960T,p.G320G,SNP,SNVindel,exonic,LRP10,NA,synonymous SNV,"LRP10:NM_001329226:exon5:c.C960T:p.G320G,LRP10:NM_014045:exon5:c.C960T:p.G320G",NA,NA,NA,NA,NA,NA
chr14,23346310,23346310,G,A,R010_S,LRP10,Silent,NM_014045,exon7,c.G1716A,p.P572P,SNP,SNVindel,exonic,LRP10,NA,synonymous SNV,LRP10:NM_014045:exon7:c.G1716A:p.P572P,NA,NA,NA,NA,NA,NA
chr14,23354079,23354079,C,T,R010_S,REM2,Silent,NM_173527,exon2,c.C300T,p.S100S,SNP,SNVindel,exonic,REM2,NA,synonymous SNV,REM2:NM_173527:exon2:c.C300T:p.S100S,NA,NA,NA,NA,NA,NA
chr14,23355243,23355243,G,A,R010_S,REM2,Missense_Mutation,NM_173527,exon4,c.G530A,p.G177E,SNP,SNVindel,exonic,REM2,NA,nonsynonymous SNV,REM2:NM_173527:exon4:c.G530A:p.G177E,T,N,D,T,N,T
chr14,23396744,23396744,G,A,R010_S,PRMT5,Silent,NM_001282953,exon3,c.C258T,p.H86H,SNP,SNVindel,exonic,PRMT5,NA,synonymous SNV,"PRMT5:NM_001282953:exon3:c.C258T:p.H86H,PRMT5:NM_001282954:exon3:c.C123T:p.H41H,PRMT5:NM_001282955:exon3:c.C309T:p.H103H,PRMT5:NM_001039619:exon4:c.C390T:p.H130H,PRMT5:NM_006109:exon4:c.C441T:p.H147H",NA,NA,NA,NA,NA,NA
chr14,23465444,23465444,C,T,R010_S,C14orf93,Missense_Mutation,NM_001130708,exon3,c.G631A,p.V211I,SNP,SNVindel,exonic,C14orf93,NA,nonsynonymous SNV,"C14orf93:NM_001130708:exon3:c.G631A:p.V211I,C14orf93:NM_001282970:exon3:c.G631A:p.V211I,C14orf93:NM_021944:exon3:c.G631A:p.V211I,C14orf93:NM_001130706:exon4:c.G631A:p.V211I,C14orf93:NM_001282968:exon4:c.G91A:p.V31I,C14orf93:NM_001282969:exon4:c.G91A:p.V31I",T,N,N,T,N,T
chr14,23821266,23821266,G,A,R010_S,SLC22A17,Missense_Mutation,NM_020372,exon1,c.C158T,p.T53I,SNP,SNVindel,exonic,SLC22A17,NA,nonsynonymous SNV,"SLC22A17:NM_020372:exon1:c.C158T:p.T53I,SLC22A17:NM_016609:exon2:c.C158T:p.T53I",T,U,D,T,N,T
chr14,23856848,23856848,G,A,R010_S,MYH6,Missense_Mutation,NM_002471,exon32,c.C4540T,p.L1514F,SNP,SNVindel,exonic,MYH6,NA,nonsynonymous SNV,MYH6:NM_002471:exon32:c.C4540T:p.L1514F,D,.,D,D,D,D
chr14,24003675,24003675,G,A,R010_S,ZFHX2,Missense_Mutation,NM_033400,exon2,c.C860T,p.A287V,SNP,SNVindel,exonic,ZFHX2,NA,nonsynonymous SNV,ZFHX2:NM_033400:exon2:c.C860T:p.A287V,T,.,N,T,N,T
chr14,24528532,24528532,C,T,R010_S,CARMIL3,Silent,NM_138360,exon21,c.C1680T,p.I560I,SNP,SNVindel,exonic,CARMIL3,NA,synonymous SNV,CARMIL3:NM_138360:exon21:c.C1680T:p.I560I,NA,NA,NA,NA,NA,NA
chr14,24587682,24587682,C,T,R010_S,DCAF11,Silent,NM_001163484,exon7,c.C663T,p.V221V,SNP,SNVindel,exonic,DCAF11,NA,synonymous SNV,"DCAF11:NM_001163484:exon7:c.C663T:p.V221V,DCAF11:NM_025230:exon7:c.C663T:p.V221V,DCAF11:NM_181357:exon7:c.C585T:p.V195V",NA,NA,NA,NA,NA,NA
chr14,24651335,24651335,G,A,R010_S,IPO4,Missense_Mutation,NM_024658,exon26,c.C2633T,p.A878V,SNP,SNVindel,exonic,IPO4,NA,nonsynonymous SNV,IPO4:NM_024658:exon26:c.C2633T:p.A878V,D,D,D,T,N,T
chr14,24651351,24651351,C,T,R010_S,IPO4,Missense_Mutation,NM_024658,exon26,c.G2617A,p.A873T,SNP,SNVindel,exonic,IPO4,NA,nonsynonymous SNV,IPO4:NM_024658:exon26:c.G2617A:p.A873T,D,D,D,T,N,T
chr14,24707738,24707738,G,A,R010_S,GMPR2,Silent,NM_001283022,exon8,c.G1038A,p.K346K,SNP,SNVindel,exonic,GMPR2,NA,synonymous SNV,"GMPR2:NM_001283022:exon8:c.G1038A:p.K346K,GMPR2:NM_001351022:exon9:c.G984A:p.K328K,GMPR2:NM_001351023:exon9:c.G984A:p.K328K,GMPR2:NM_001283021:exon10:c.G876A:p.K292K",NA,NA,NA,NA,NA,NA
chr14,24710247,24710247,C,T,R010_S,TINF2,Missense_Mutation,NM_001363668,exon4,c.G478A,p.D160N,SNP,SNVindel,exonic,TINF2,NA,nonsynonymous SNV,"TINF2:NM_001363668:exon4:c.G478A:p.D160N,TINF2:NM_001099274:exon5:c.G583A:p.D195N,TINF2:NM_012461:exon5:c.G583A:p.D195N",D,D,D,D,N,D
chr14,24711148,24711148,G,A,R010_S,TINF2,Missense_Mutation,NM_001099274,exon2,c.C245T,p.A82V,SNP,SNVindel,exonic,TINF2,NA,nonsynonymous SNV,"TINF2:NM_001099274:exon2:c.C245T:p.A82V,TINF2:NM_012461:exon2:c.C245T:p.A82V",T,N,D,T,N,T
chr14,24773355,24773355,G,A,R010_S,NOP9,Missense_Mutation,NM_001286367,exon8,c.G1519A,p.G507S,SNP,SNVindel,exonic,NOP9,NA,nonsynonymous SNV,"NOP9:NM_001286367:exon8:c.G1519A:p.G507S,NOP9:NM_174913:exon8:c.G1519A:p.G507S",T,N,N,T,N,T
chr14,24780396,24780396,G,A,R010_S,LTB4R2,Missense_Mutation,NM_001164692,exon2,c.G526A,p.V176I,SNP,SNVindel,exonic,LTB4R2,NA,nonsynonymous SNV,"LTB4R2:NM_001164692:exon2:c.G526A:p.V176I,LTB4R2:NM_019839:exon2:c.G526A:p.V176I",T,U,N,T,N,T
chr14,24785598,24785598,C,T,R010_S,LTB4R,Silent,NM_001143919,exon2,c.C741T,p.R247R,SNP,SNVindel,exonic,LTB4R,NA,synonymous SNV,"LTB4R:NM_001143919:exon2:c.C741T:p.R247R,LTB4R:NM_181657:exon2:c.C741T:p.R247R",NA,NA,NA,NA,NA,NA
chr14,24839341,24839341,G,A,R010_S,NFATC4,Missense_Mutation,NM_001198965,exon2,c.G737A,p.S246N,SNP,SNVindel,exonic,NFATC4,NA,nonsynonymous SNV,"NFATC4:NM_001198965:exon2:c.G737A:p.S246N,NFATC4:NM_001198966:exon2:c.G527A:p.S176N,NFATC4:NM_001288802:exon2:c.G701A:p.S234N,NFATC4:NM_001363681:exon2:c.G701A:p.S234N,NFATC4:NM_001363682:exon2:c.G701A:p.S234N,NFATC4:NM_004554:exon2:c.G737A:p.S246N,NFATC4:NM_001136022:exon3:c.G926A:p.S309N,NFATC4:NM_001198967:exon3:c.G926A:p.S309N,NFATC4:NM_001320043:exon3:c.G926A:p.S309N",T,N,N,T,N,T
chr14,26949218,26949218,G,A,R010_S,NOVA1,Missense_Mutation,NM_001366392,exon3,c.C409T,p.P137S,SNP,SNVindel,exonic,NOVA1,NA,nonsynonymous SNV,"NOVA1:NM_001366392:exon3:c.C409T:p.P137S,NOVA1:NM_001366393:exon3:c.C301T:p.P101S,NOVA1:NM_001366394:exon3:c.C301T:p.P101S,NOVA1:NM_001366397:exon3:c.C46T:p.P16S,NOVA1:NM_001366398:exon3:c.C46T:p.P16S,NOVA1:NM_002515:exon3:c.C412T:p.P138S,NOVA1:NM_006489:exon3:c.C412T:p.P138S,NOVA1:NM_006491:exon3:c.C412T:p.P138S,NOVA1:NM_001366390:exon4:c.C46T:p.P16S,NOVA1:NM_001366391:exon4:c.C46T:p.P16S,NOVA1:NM_001366395:exon4:c.C46T:p.P16S,NOVA1:NM_001366396:exon4:c.C46T:p.P16S",T,N,D,T,N,T
chr14,31077220,31077220,C,T,R010_S,G2E3,Missense_Mutation,NM_001308097,exon11,c.C1307T,p.T436I,SNP,SNVindel,exonic,G2E3,NA,nonsynonymous SNV,"G2E3:NM_001308097:exon11:c.C1307T:p.T436I,G2E3:NM_017769:exon12:c.C1445T:p.T482I",T,N,N,T,N,T
chr14,31404479,31404479,G,A,R010_S,STRN3,Missense_Mutation,NM_001083893,exon7,c.C878T,p.T293I,SNP,SNVindel,exonic,STRN3,NA,nonsynonymous SNV,"STRN3:NM_001083893:exon7:c.C878T:p.T293I,STRN3:NM_014574:exon7:c.C878T:p.T293I",T,D,D,T,N,T
chr14,31592125,31592125,C,T,R010_S,HECTD1,Missense_Mutation,NM_015382,exon27,c.G5110A,p.V1704I,SNP,SNVindel,exonic,HECTD1,NA,nonsynonymous SNV,HECTD1:NM_015382:exon27:c.G5110A:p.V1704I,T,U,D,T,N,T
chr14,31598389,31598389,G,A,R010_S,HECTD1,Silent,NM_015382,exon25,c.C4188T,p.D1396D,SNP,SNVindel,exonic,HECTD1,NA,synonymous SNV,HECTD1:NM_015382:exon25:c.C4188T:p.D1396D,NA,NA,NA,NA,NA,NA
chr14,31762572,31762572,G,A,R010_S,HEATR5A,Missense_Mutation,NM_015473,exon36,c.C6080T,p.S2027F,SNP,SNVindel,exonic,HEATR5A,NA,nonsynonymous SNV,HEATR5A:NM_015473:exon36:c.C6080T:p.S2027F,D,N,D,T,D,T
chr14,36004441,36004441,C,T,R010_S,INSM2,Missense_Mutation,NM_032594,exon1,c.C983T,p.A328V,SNP,SNVindel,exonic,INSM2,NA,nonsynonymous SNV,INSM2:NM_032594:exon1:c.C983T:p.A328V,T,.,N,T,N,T
chr14,36157730,36157730,G,A,R010_S,RALGAPA1,Missense_Mutation,NM_001330075,exon17,c.C3746T,p.P1249L,SNP,SNVindel,exonic,RALGAPA1,NA,nonsynonymous SNV,"RALGAPA1:NM_001330075:exon17:c.C3746T:p.P1249L,RALGAPA1:NM_001346248:exon17:c.C3746T:p.P1249L,RALGAPA1:NM_001346249:exon18:c.C3887T:p.P1296L",NA,NA,NA,NA,NA,NA
chr14,36781197,36781197,G,A,R010_S,MBIP,Missense_Mutation,NM_001144891,exon5,c.C605T,p.T202I,SNP,SNVindel,exonic,MBIP,NA,nonsynonymous SNV,"MBIP:NM_001144891:exon5:c.C605T:p.T202I,MBIP:NM_001308110:exon5:c.C605T:p.T202I,MBIP:NM_016586:exon5:c.C605T:p.T202I",T,D,D,T,N,T
chr14,39517869,39517869,G,A,R010_S,SEC23A,Missense_Mutation,NM_006364,exon15,c.C1724T,p.S575F,SNP,SNVindel,exonic,SEC23A,NA,nonsynonymous SNV,SEC23A:NM_006364:exon15:c.C1724T:p.S575F,D,D,D,D,D,D
chr14,39601210,39601210,C,T,R010_S,GEMIN2,Missense_Mutation,NM_001009182,exon7,c.C637T,p.P213S,SNP,SNVindel,exonic,GEMIN2,NA,nonsynonymous SNV,"GEMIN2:NM_001009182:exon7:c.C637T:p.P213S,GEMIN2:NM_001009183:exon8:c.C682T:p.P228S,GEMIN2:NM_003616:exon8:c.C682T:p.P228S",T,N,D,.,D,T
chr14,44975219,44975219,G,A,R010_S,FSCB,Silent,NM_032135,exon1,c.C972T,p.A324A,SNP,SNVindel,exonic,FSCB,NA,synonymous SNV,FSCB:NM_032135:exon1:c.C972T:p.A324A,NA,NA,NA,NA,NA,NA
chr14,45514010,45514010,G,A,R010_S,TOGARAM1,Missense_Mutation,NM_001308120,exon13,c.G4091A,p.R1364K,SNP,SNVindel,exonic,TOGARAM1,NA,nonsynonymous SNV,"TOGARAM1:NM_001308120:exon13:c.G4091A:p.R1364K,TOGARAM1:NM_015091:exon13:c.G4091A:p.R1364K",T,N,D,T,N,T
chr14,45716123,45716123,G,A,R010_S,MIS18BP1,Silent,NM_018353,exon2,c.C367T,p.L123L,SNP,SNVindel,exonic,MIS18BP1,NA,synonymous SNV,MIS18BP1:NM_018353:exon2:c.C367T:p.L123L,NA,NA,NA,NA,NA,NA
chr14,47687379,47687379,G,A,R010_S,MDGA2,Missense_Mutation,NM_001113498,exon3,c.C233T,p.A78V,SNP,SNVindel,exonic,MDGA2,NA,nonsynonymous SNV,MDGA2:NM_001113498:exon3:c.C233T:p.A78V,D,U,D,D,N,D
chr14,50074384,50074384,C,T,R010_S,LRR1,Silent,NM_152329,exon3,c.C549T,p.D183D,SNP,SNVindel,exonic,LRR1,NA,synonymous SNV,LRR1:NM_152329:exon3:c.C549T:p.D183D,NA,NA,NA,NA,NA,NA
chr14,50245145,50245145,G,A,R010_S,KLHDC2,Missense_Mutation,NM_014315,exon6,c.G566A,p.R189K,SNP,SNVindel,exonic,KLHDC2,NA,nonsynonymous SNV,KLHDC2:NM_014315:exon6:c.G566A:p.R189K,T,D,D,T,N,T
chr14,52741672,52741672,C,T,R010_S,PTGDR,Missense_Mutation,NM_000953,exon2,c.C1070T,p.S357F,SNP,SNVindel,exonic,PTGDR,NA,nonsynonymous SNV,PTGDR:NM_000953:exon2:c.C1070T:p.S357F,D,D,D,T,N,T
chr14,55475355,55475355,G,A,R010_S,WDHD1,Missense_Mutation,NM_001008396,exon4,c.C55T,p.L19F,SNP,SNVindel,exonic,WDHD1,NA,nonsynonymous SNV,"WDHD1:NM_001008396:exon4:c.C55T:p.L19F,WDHD1:NM_007086:exon5:c.C424T:p.L142F",D,D,D,T,D,T
chr14,58598350,58598350,G,A,R010_S,ARMH4,Missense_Mutation,NM_001001872,exon4,c.C1711T,p.P571S,SNP,SNVindel,exonic,ARMH4,NA,nonsynonymous SNV,"ARMH4:NM_001001872:exon4:c.C1711T:p.P571S,ARMH4:NM_001320173:exon4:c.C1711T:p.P571S",D,N,N,T,N,T
chr14,58909457,58909457,G,A,R010_S,KIAA0586,Silent,NM_001244193,exon2,c.G24A,p.K8K,SNP,SNVindel,exonic,KIAA0586,NA,synonymous SNV,"KIAA0586:NM_001244193:exon2:c.G24A:p.K8K,KIAA0586:NM_001244191:exon5:c.G189A:p.K63K,KIAA0586:NM_001329943:exon5:c.G444A:p.K148K,KIAA0586:NM_001329944:exon5:c.G444A:p.K148K,KIAA0586:NM_001329945:exon5:c.G189A:p.K63K,KIAA0586:NM_001329946:exon5:c.G444A:p.K148K,KIAA0586:NM_001329947:exon5:c.G444A:p.K148K,KIAA0586:NM_001364700:exon5:c.G189A:p.K63K,KIAA0586:NM_001364701:exon5:c.G189A:p.K63K,KIAA0586:NM_014749:exon5:c.G444A:p.K148K,KIAA0586:NM_001244190:exon6:c.G399A:p.K133K,KIAA0586:NM_001244192:exon6:c.G312A:p.K104K,KIAA0586:NM_001244189:exon7:c.G603A:p.K201K",NA,NA,NA,NA,NA,NA
chr14,59930560,59930560,C,T,R010_S,GPR135,Missense_Mutation,NM_022571,exon1,c.G1385A,p.R462H,SNP,SNVindel,exonic,GPR135,NA,nonsynonymous SNV,GPR135:NM_022571:exon1:c.G1385A:p.R462H,T,U,N,T,N,T
chr14,63511896,63511896,C,T,R010_S,KCNH5,Silent,NM_139318,exon1,c.G9A,p.G3G,SNP,SNVindel,exonic,KCNH5,NA,synonymous SNV,"KCNH5:NM_139318:exon1:c.G9A:p.G3G,KCNH5:NM_172375:exon1:c.G9A:p.G3G",NA,NA,NA,NA,NA,NA
chr14,64894062,64894062,C,T,R010_S,MTHFD1,Missense_Mutation,NM_001364837,exon12,c.C1135T,p.P379S,SNP,SNVindel,exonic,MTHFD1,NA,nonsynonymous SNV,"MTHFD1:NM_001364837:exon12:c.C1135T:p.P379S,MTHFD1:NM_005956:exon12:c.C1135T:p.P379S",D,D,D,T,D,D
chr14,67555723,67555723,C,T,R010_S,GPHN,Nonsense_Mutation,NM_001024218,exon11,c.C1069T,p.Q357X,SNP,SNVindel,exonic,GPHN,NA,stopgain,"GPHN:NM_001024218:exon11:c.C1069T:p.Q357X,GPHN:NM_020806:exon12:c.C1168T:p.Q390X",.,D,A,.,.,.
chr14,67940225,67940225,G,A,R010_S,TMEM229B,Missense_Mutation,NM_001348541,exon3,c.C548T,p.T183I,SNP,SNVindel,exonic,TMEM229B,NA,nonsynonymous SNV,"TMEM229B:NM_001348541:exon3:c.C548T:p.T183I,TMEM229B:NM_001348542:exon3:c.C416T:p.T139I,TMEM229B:NM_001348543:exon3:c.C416T:p.T139I,TMEM229B:NM_001348546:exon3:c.C416T:p.T139I,TMEM229B:NM_001348547:exon3:c.C416T:p.T139I,TMEM229B:NM_001348548:exon3:c.C416T:p.T139I,TMEM229B:NM_182526:exon3:c.C416T:p.T139I,TMEM229B:NM_001348544:exon4:c.C416T:p.T139I,TMEM229B:NM_001348549:exon4:c.C416T:p.T139I",T,N,D,.,N,T
chr14,68219207,68219207,C,T,R010_S,ZFYVE26,Missense_Mutation,NM_015346,exon40,c.G7225A,p.A2409T,SNP,SNVindel,exonic,ZFYVE26,NA,nonsynonymous SNV,ZFYVE26:NM_015346:exon40:c.G7225A:p.A2409T,T,D,D,T,N,T
chr14,68221827,68221827,G,A,R010_S,ZFYVE26,Silent,NM_015346,exon37,c.C6927T,p.S2309S,SNP,SNVindel,exonic,ZFYVE26,NA,synonymous SNV,ZFYVE26:NM_015346:exon37:c.C6927T:p.S2309S,NA,NA,NA,NA,NA,NA
chr14,69529148,69529148,G,A,R010_S,DCAF5,Missense_Mutation,NM_001284206,exon8,c.C1024T,p.P342S,SNP,SNVindel,exonic,DCAF5,NA,nonsynonymous SNV,"DCAF5:NM_001284206:exon8:c.C1024T:p.P342S,DCAF5:NM_001284207:exon8:c.C781T:p.P261S,DCAF5:NM_003861:exon8:c.C1027T:p.P343S",D,D,D,T,N,T
chr14,69704371,69704371,C,T,R010_S,EXD2,Missense_Mutation,NM_018199,exon7,c.C997T,p.L333F,SNP,SNVindel,exonic,EXD2,NA,nonsynonymous SNV,"EXD2:NM_018199:exon7:c.C997T:p.L333F,EXD2:NM_001193361:exon8:c.C1372T:p.L458F,EXD2:NM_001193363:exon8:c.C1372T:p.L458F,EXD2:NM_001193360:exon9:c.C1372T:p.L458F,EXD2:NM_001193362:exon9:c.C1372T:p.L458F",D,D,D,T,D,D
chr14,73464862,73464862,C,T,R010_S,ZFYVE1,Silent,NM_001281734,exon3,c.G645A,p.E215E,SNP,SNVindel,exonic,ZFYVE1,NA,synonymous SNV,"ZFYVE1:NM_001281734:exon3:c.G645A:p.E215E,ZFYVE1:NM_021260:exon3:c.G645A:p.E215E",NA,NA,NA,NA,NA,NA
chr14,74186204,74186204,C,T,R010_S,ELMSAN1,Missense_Mutation,NM_001043318,exon12,c.G2938A,p.A980T,SNP,SNVindel,exonic,ELMSAN1,NA,nonsynonymous SNV,"ELMSAN1:NM_001043318:exon12:c.G2938A:p.A980T,ELMSAN1:NM_001367710:exon12:c.G2938A:p.A980T,ELMSAN1:NM_194278:exon12:c.G2938A:p.A980T",D,N,D,T,N,T
chr14,74345804,74345804,C,T,R010_S,PTGR2,Silent,NM_001146154,exon6,c.C525T,p.G175G,SNP,SNVindel,exonic,PTGR2,NA,synonymous SNV,"PTGR2:NM_001146154:exon6:c.C525T:p.G175G,PTGR2:NM_001146155:exon6:c.C525T:p.G175G,PTGR2:NM_001371325:exon6:c.C525T:p.G175G,PTGR2:NM_152444:exon6:c.C525T:p.G175G,PTGR2:NM_001371330:exon7:c.C123T:p.G41G,PTGR2:NM_001371331:exon7:c.C123T:p.G41G,PTGR2:NM_001371332:exon7:c.C123T:p.G41G",NA,NA,NA,NA,NA,NA
chr14,75329487,75329487,C,T,R010_S,PROX2,Missense_Mutation,NM_001243007,exon1,c.G1051A,p.G351S,SNP,SNVindel,exonic,PROX2,NA,nonsynonymous SNV,PROX2:NM_001243007:exon1:c.G1051A:p.G351S,T,N,N,T,N,T
chr14,75378054,75378054,C,T,R010_S,RPS6KL1,Silent,NM_001370257,exon5,c.G468A,p.R156R,SNP,SNVindel,exonic,RPS6KL1,NA,synonymous SNV,"RPS6KL1:NM_001370257:exon5:c.G468A:p.R156R,RPS6KL1:NM_001370252:exon6:c.G561A:p.R187R,RPS6KL1:NM_001370256:exon6:c.G561A:p.R187R,RPS6KL1:NM_001370258:exon6:c.G468A:p.R156R,RPS6KL1:NM_031464:exon6:c.G561A:p.R187R,RPS6KL1:NM_001370253:exon7:c.G516A:p.R172R,RPS6KL1:NM_001370255:exon7:c.G561A:p.R187R",NA,NA,NA,NA,NA,NA
chr14,75472600,75472600,C,T,R010_S,EIF2B2,Missense_Mutation,NM_014239,exon5,c.C629T,p.A210V,SNP,SNVindel,exonic,EIF2B2,NA,nonsynonymous SNV,EIF2B2:NM_014239:exon5:c.C629T:p.A210V,T,N,N,D,D,D
chr14,76349181,76349181,G,A,R010_S,TTLL5,Missense_Mutation,NM_015072,exon30,c.G3676A,p.V1226I,SNP,SNVindel,exonic,TTLL5,NA,nonsynonymous SNV,TTLL5:NM_015072:exon30:c.G3676A:p.V1226I,D,N,N,T,N,T
chr14,77576241,77576241,C,T,R010_S,CIPC,Missense_Mutation,NM_033426,exon3,c.C223T,p.P75S,SNP,SNVindel,exonic,CIPC,NA,nonsynonymous SNV,CIPC:NM_033426:exon3:c.C223T:p.P75S,T,N,D,T,N,T
chr14,77873862,77873862,C,T,R010_S,NOXRED1,Missense_Mutation,NM_001113475,exon3,c.G476A,p.S159N,SNP,SNVindel,exonic,NOXRED1,NA,nonsynonymous SNV,NOXRED1:NM_001113475:exon3:c.G476A:p.S159N,T,N,N,T,N,T
chr14,78170747,78170747,C,T,R010_S,ALKBH1,Missense_Mutation,NM_006020,exon2,c.G257A,p.S86N,SNP,SNVindel,exonic,ALKBH1,NA,nonsynonymous SNV,ALKBH1:NM_006020:exon2:c.G257A:p.S86N,T,D,D,T,N,T
chr14,89628784,89628784,C,T,R010_S,FOXN3,Missense_Mutation,NM_005197,exon6,c.G1381A,p.E461K,SNP,SNVindel,exonic,FOXN3,NA,nonsynonymous SNV,"FOXN3:NM_005197:exon6:c.G1381A:p.E461K,FOXN3:NM_001085471:exon7:c.G1447A:p.E483K",T,D,D,T,N,T
chr14,94772455,94772455,C,T,R010_S,SERPINA6,Missense_Mutation,NM_001756,exon4,c.G985A,p.A329T,SNP,SNVindel,exonic,SERPINA6,NA,nonsynonymous SNV,SERPINA6:NM_001756:exon4:c.G985A:p.A329T,T,N,N,D,D,T
chr14,97319223,97319223,G,A,R010_S,VRK1,Missense_Mutation,NM_003384,exon6,c.G430A,p.A144T,SNP,SNVindel,exonic,VRK1,NA,nonsynonymous SNV,VRK1:NM_003384:exon6:c.G430A:p.A144T,T,D,D,T,N,T
chr14,102505044,102505044,C,T,R010_S,DYNC1H1,Missense_Mutation,NM_001376,exon59,c.C11065T,p.P3689S,SNP,SNVindel,exonic,DYNC1H1,NA,nonsynonymous SNV,DYNC1H1:NM_001376:exon59:c.C11065T:p.P3689S,T,D,D,T,D,T
chr14,102698117,102698117,C,T,R010_S,MOK,Missense_Mutation,NM_001353832,exon4,c.G206A,p.G69D,SNP,SNVindel,exonic,MOK,NA,nonsynonymous SNV,"MOK:NM_001353832:exon4:c.G206A:p.G69D,MOK:NM_001353829:exon8:c.G593A:p.G198D,MOK:NM_001353830:exon8:c.G590A:p.G197D,MOK:NM_001272011:exon9:c.G818A:p.G273D,MOK:NM_001353827:exon9:c.G815A:p.G272D,MOK:NM_001353831:exon9:c.G362A:p.G121D,MOK:NM_001330234:exon10:c.G905A:p.G302D,MOK:NM_014226:exon10:c.G908A:p.G303D,MOK:NM_001353828:exon11:c.G716A:p.G239D",T,N,N,T,N,T
chr14,102898243,102898243,G,A,R010_S,TECPR2,Missense_Mutation,NM_001172631,exon8,c.G1195A,p.A399T,SNP,SNVindel,exonic,TECPR2,NA,nonsynonymous SNV,"TECPR2:NM_001172631:exon8:c.G1195A:p.A399T,TECPR2:NM_014844:exon8:c.G1195A:p.A399T",T,N,N,T,N,T
chr14,105361079,105361079,C,T,R010_S,CEP170B,Silent,NM_015005,exon18,c.C4344T,p.S1448S,SNP,SNVindel,exonic,CEP170B,NA,synonymous SNV,"CEP170B:NM_015005:exon18:c.C4344T:p.S1448S,CEP170B:NM_001112726:exon19:c.C4449T:p.S1483S",NA,NA,NA,NA,NA,NA
chr14,105615156,105615156,C,T,R010_S,JAG2,Missense_Mutation,NM_145159,exon14,c.G1832A,p.G611D,SNP,SNVindel,exonic,JAG2,NA,nonsynonymous SNV,"JAG2:NM_145159:exon14:c.G1832A:p.G611D,JAG2:NM_002226:exon15:c.G1946A:p.G649D",D,D,D,D,D,D
chr14,105643313,105643313,C,T,R010_S,NUDT14,Silent,NM_001318380,exon3,c.G177A,p.K59K,SNP,SNVindel,exonic,NUDT14,NA,synonymous SNV,"NUDT14:NM_001318380:exon3:c.G177A:p.K59K,NUDT14:NM_177533:exon3:c.G177A:p.K59K",NA,NA,NA,NA,NA,NA
chr15,25620906,25620906,G,A,R010_S,UBE3A,Nonsense_Mutation,NM_001354548,exon3,c.C7T,p.R3X,SNP,SNVindel,exonic,UBE3A,NA,stopgain,"UBE3A:NM_001354548:exon3:c.C7T:p.R3X,UBE3A:NM_001354549:exon3:c.C7T:p.R3X,UBE3A:NM_001354551:exon3:c.C7T:p.R3X,UBE3A:NM_130838:exon3:c.C7T:p.R3X,UBE3A:NM_001354542:exon4:c.C7T:p.R3X,UBE3A:NM_001354505:exon5:c.C67T:p.R23X,UBE3A:NM_001354545:exon5:c.C67T:p.R23X,UBE3A:NM_001354550:exon5:c.C67T:p.R23X,UBE3A:NM_130839:exon5:c.C67T:p.R23X,UBE3A:NM_000462:exon6:c.C76T:p.R26X,UBE3A:NM_001354508:exon6:c.C7T:p.R3X,UBE3A:NM_001354511:exon6:c.C7T:p.R3X,UBE3A:NM_001354512:exon6:c.C7T:p.R3X,UBE3A:NM_001354513:exon6:c.C7T:p.R3X,UBE3A:NM_001354523:exon6:c.C7T:p.R3X,UBE3A:NM_001354538:exon6:c.C67T:p.R23X,UBE3A:NM_001354539:exon6:c.C7T:p.R3X,UBE3A:NM_001354547:exon6:c.C7T:p.R3X,UBE3A:NM_001354506:exon7:c.C7T:p.R3X,UBE3A:NM_001354507:exon7:c.C7T:p.R3X,UBE3A:NM_001354509:exon7:c.C7T:p.R3X,UBE3A:NM_001354526:exon7:c.C7T:p.R3X,UBE3A:NM_001354541:exon7:c.C7T:p.R3X,UBE3A:NM_001354544:exon7:c.C7T:p.R3X,UBE3A:NM_001354540:exon8:c.C7T:p.R3X,UBE3A:NM_001354543:exon9:c.C7T:p.R3X",.,D,A,.,.,.
chr15,28362206,28362206,G,A,R010_S,HERC2,Missense_Mutation,NM_004667,exon87,c.C13367T,p.P4456L,SNP,SNVindel,exonic,HERC2,NA,nonsynonymous SNV,HERC2:NM_004667:exon87:c.C13367T:p.P4456L,T,D,D,T,D,T
chr15,28491074,28491074,C,T,R010_S,HERC2,Missense_Mutation,NM_004667,exon23,c.G3530A,p.G1177E,SNP,SNVindel,exonic,HERC2,NA,nonsynonymous SNV,HERC2:NM_004667:exon23:c.G3530A:p.G1177E,T,D,D,T,N,T
chr15,29393898,29393898,G,A,R010_S,APBA2,Missense_Mutation,NM_001353797,exon6,c.G511A,p.A171T,SNP,SNVindel,exonic,APBA2,NA,nonsynonymous SNV,"APBA2:NM_001353797:exon6:c.G511A:p.A171T,APBA2:NM_001353796:exon7:c.G547A:p.A183T,APBA2:NM_001130414:exon8:c.G1399A:p.A467T,APBA2:NM_001353793:exon8:c.G1399A:p.A467T,APBA2:NM_001353794:exon8:c.G1399A:p.A467T,APBA2:NM_001353791:exon9:c.G1435A:p.A479T,APBA2:NM_001353792:exon9:c.G1399A:p.A467T,APBA2:NM_005503:exon9:c.G1435A:p.A479T,APBA2:NM_001353788:exon10:c.G1435A:p.A479T,APBA2:NM_001353789:exon10:c.G1435A:p.A479T,APBA2:NM_001353790:exon10:c.G1435A:p.A479T,APBA2:NM_001353795:exon10:c.G1435A:p.A479T",T,D,D,T,N,T
chr15,31269078,31269078,G,A,R010_S,MTMR10,Silent,NM_017762,exon3,c.C202T,p.L68L,SNP,SNVindel,exonic,MTMR10,NA,synonymous SNV,MTMR10:NM_017762:exon3:c.C202T:p.L68L,NA,NA,NA,NA,NA,NA
chr15,33922198,33922198,G,A,R010_S,RYR3,Missense_Mutation,NM_001036,exon22,c.G2737A,p.E913K,SNP,SNVindel,exonic,RYR3,NA,nonsynonymous SNV,"RYR3:NM_001036:exon22:c.G2737A:p.E913K,RYR3:NM_001243996:exon22:c.G2737A:p.E913K",D,D,D,D,D,D
chr15,33961594,33961594,C,T,R010_S,RYR3,Missense_Mutation,NM_001036,exon37,c.C5659T,p.P1887S,SNP,SNVindel,exonic,RYR3,NA,nonsynonymous SNV,"RYR3:NM_001036:exon37:c.C5659T:p.P1887S,RYR3:NM_001243996:exon37:c.C5659T:p.P1887S",D,D,D,T,D,D
chr15,34396372,34396372,A,G,R010_S,PGBD4,Missense_Mutation,NM_152595,exon1,c.A1640G,p.Q547R,SNP,SNVindel,exonic,PGBD4,NA,nonsynonymous SNV,PGBD4:NM_152595:exon1:c.A1640G:p.Q547R,T,.,N,T,N,T
chr15,34648123,34648123,C,T,R010_S,NUTM1,Silent,NM_001284293,exon7,c.C1884T,p.C628C,SNP,SNVindel,exonic,NUTM1,NA,synonymous SNV,"NUTM1:NM_001284293:exon7:c.C1884T:p.C628C,NUTM1:NM_001284292:exon8:c.C1914T:p.C638C,NUTM1:NM_175741:exon8:c.C1830T:p.C610C",NA,NA,NA,NA,NA,NA
chr15,37188873,37188873,C,T,R010_S,MEIS2,Missense_Mutation,NM_172315,exon9,c.G953A,p.R318K,SNP,SNVindel,exonic,MEIS2,NA,nonsynonymous SNV,"MEIS2:NM_172315:exon9:c.G953A:p.R318K,MEIS2:NM_002399:exon10:c.G953A:p.R318K,MEIS2:NM_170674:exon10:c.G992A:p.R331K,MEIS2:NM_170675:exon10:c.G992A:p.R331K,MEIS2:NM_170676:exon10:c.G992A:p.R331K,MEIS2:NM_170677:exon10:c.G992A:p.R331K,MEIS2:NM_172316:exon10:c.G728A:p.R243K,MEIS2:NM_001220482:exon11:c.G992A:p.R331K",D,D,D,D,N,D
chr15,39884941,39884941,G,A,R010_S,THBS1,Missense_Mutation,NM_003246,exon17,c.G2705A,p.G902D,SNP,SNVindel,exonic,THBS1,NA,nonsynonymous SNV,THBS1:NM_003246:exon17:c.G2705A:p.G902D,D,N,D,D,D,D
chr15,40018885,40018885,G,A,R010_S,FSIP1,Nonsense_Mutation,NM_001324338,exon9,c.C955T,p.Q319X,SNP,SNVindel,exonic,FSIP1,NA,stopgain,"FSIP1:NM_001324338:exon9:c.C955T:p.Q319X,FSIP1:NM_152597:exon9:c.C955T:p.Q319X",.,D,A,.,.,.
chr15,40093826,40093826,C,T,R010_S,GPR176,Missense_Mutation,NM_001271855,exon3,c.G920A,p.S307N,SNP,SNVindel,exonic,GPR176,NA,nonsynonymous SNV,"GPR176:NM_001271855:exon3:c.G920A:p.S307N,GPR176:NM_007223:exon3:c.G1055A:p.S352N,GPR176:NM_001271854:exon4:c.G1052A:p.S351N",T,N,N,T,N,T
chr15,40331306,40331306,C,T,R010_S,SRP14,Silent,NM_003134,exon1,c.G12A,p.L4L,SNP,SNVindel,exonic,SRP14,NA,synonymous SNV,SRP14:NM_003134:exon1:c.G12A:p.L4L,NA,NA,NA,NA,NA,NA
chr15,40492451,40492451,G,A,R010_S,BUB1B,Missense_Mutation,NM_001211,exon11,c.G1408A,p.E470K,SNP,SNVindel,exonic,BUB1B,NA,nonsynonymous SNV,BUB1B:NM_001211:exon11:c.G1408A:p.E470K,D,N,N,T,N,T
chr15,40586535,40586535,C,T,R010_S,PLCB2,Missense_Mutation,NM_001284297,exon19,c.G1981A,p.D661N,SNP,SNVindel,exonic,PLCB2,NA,nonsynonymous SNV,"PLCB2:NM_001284297:exon19:c.G1981A:p.D661N,PLCB2:NM_001284298:exon19:c.G1993A:p.D665N,PLCB2:NM_004573:exon19:c.G1993A:p.D665N",D,D,D,T,D,T
chr15,40659949,40659949,G,A,R010_S,DISP2,Missense_Mutation,NM_033510,exon8,c.G1636A,p.A546T,SNP,SNVindel,exonic,DISP2,NA,nonsynonymous SNV,DISP2:NM_033510:exon8:c.G1636A:p.A546T,T,N,D,D,N,T
chr15,40661253,40661253,C,T,R010_S,DISP2,Silent,NM_033510,exon8,c.C2940T,p.L980L,SNP,SNVindel,exonic,DISP2,NA,synonymous SNV,DISP2:NM_033510:exon8:c.C2940T:p.L980L,NA,NA,NA,NA,NA,NA
chr15,41036332,41036332,C,T,R010_S,RMDN3,Missense_Mutation,NM_001304802,exon6,c.G823A,p.D275N,SNP,SNVindel,exonic,RMDN3,NA,nonsynonymous SNV,"RMDN3:NM_001304802:exon6:c.G823A:p.D275N,RMDN3:NM_001323894:exon6:c.G823A:p.D275N,RMDN3:NM_001323895:exon6:c.G436A:p.D146N,RMDN3:NM_001323896:exon6:c.G901A:p.D301N,RMDN3:NM_001323897:exon6:c.G901A:p.D301N,RMDN3:NM_018145:exon6:c.G823A:p.D275N",D,D,D,T,D,T
chr15,41137024,41137024,G,A,R010_S,SPINT1,Missense_Mutation,NM_001032367,exon1,c.G272A,p.C91Y,SNP,SNVindel,exonic,SPINT1,NA,nonsynonymous SNV,"SPINT1:NM_001032367:exon1:c.G272A:p.C91Y,SPINT1:NM_003710:exon2:c.G272A:p.C91Y,SPINT1:NM_181642:exon2:c.G272A:p.C91Y",D,D,D,T,D,T
chr15,41165558,41165558,G,A,R010_S,RHOV,Missense_Mutation,NM_133639,exon3,c.C409T,p.P137S,SNP,SNVindel,exonic,RHOV,NA,nonsynonymous SNV,RHOV:NM_133639:exon3:c.C409T:p.P137S,D,D,D,T,D,D
chr15,41191919,41191919,C,T,R010_S,VPS18,Silent,NM_020857,exon4,c.C903T,p.R301R,SNP,SNVindel,exonic,VPS18,NA,synonymous SNV,VPS18:NM_020857:exon4:c.C903T:p.R301R,NA,NA,NA,NA,NA,NA
chr15,41816028,41816028,G,A,R010_S,RPAP1,Missense_Mutation,NM_015540,exon17,c.C2377T,p.P793S,SNP,SNVindel,exonic,RPAP1,NA,nonsynonymous SNV,RPAP1:NM_015540:exon17:c.C2377T:p.P793S,T,N,D,T,N,T
chr15,42034968,42034968,G,A,R010_S,MGA,Missense_Mutation,NM_001164273,exon15,c.G4810A,p.V1604M,SNP,SNVindel,exonic,MGA,NA,nonsynonymous SNV,MGA:NM_001164273:exon15:c.G4810A:p.V1604M,D,N,D,D,N,T
chr15,42149638,42149638,C,T,R010_S,SPTBN5,Missense_Mutation,NM_016642,exon51,c.G8419A,p.E2807K,SNP,SNVindel,exonic,SPTBN5,NA,nonsynonymous SNV,SPTBN5:NM_016642:exon51:c.G8419A:p.E2807K,T,D,D,T,D,T
chr15,42446409,42446409,C,T,R010_S,PLA2G4F,Missense_Mutation,NM_213600,exon4,c.G331A,p.E111K,SNP,SNVindel,exonic,PLA2G4F,NA,nonsynonymous SNV,PLA2G4F:NM_213600:exon4:c.G331A:p.E111K,D,D,D,T,D,T
chr15,42579901,42579901,G,A,R010_S,GANC,Missense_Mutation,NM_198141,exon4,c.G214A,p.A72T,SNP,SNVindel,exonic,GANC,NA,nonsynonymous SNV,"GANC:NM_198141:exon4:c.G214A:p.A72T,GANC:NM_001301409:exon5:c.G214A:p.A72T",T,N,N,T,N,T
chr15,42982294,42982294,G,A,R010_S,STARD9,Missense_Mutation,NM_020759,exon23,c.G8518A,p.A2840T,SNP,SNVindel,exonic,STARD9,NA,nonsynonymous SNV,STARD9:NM_020759:exon23:c.G8518A:p.A2840T,T,N,N,T,N,T
chr15,42984562,42984562,G,A,R010_S,STARD9,Missense_Mutation,NM_020759,exon23,c.G10786A,p.E3596K,SNP,SNVindel,exonic,STARD9,NA,nonsynonymous SNV,STARD9:NM_020759:exon23:c.G10786A:p.E3596K,T,.,N,T,N,T
chr15,43038319,43038319,G,A,R010_S,TTBK2,Missense_Mutation,NM_173500,exon15,c.C3409T,p.P1137S,SNP,SNVindel,exonic,TTBK2,NA,nonsynonymous SNV,TTBK2:NM_173500:exon15:c.C3409T:p.P1137S,T,N,D,T,N,T
chr15,43585655,43585655,G,A,R010_S,TGM7,Missense_Mutation,NM_052955,exon2,c.C185T,p.A62V,SNP,SNVindel,exonic,TGM7,NA,nonsynonymous SNV,TGM7:NM_052955:exon2:c.C185T:p.A62V,T,N,N,D,N,T
chr15,43653801,43653801,G,A,R010_S,ZSCAN29,Missense_Mutation,NM_152455,exon5,c.C2029T,p.P677S,SNP,SNVindel,exonic,ZSCAN29,NA,nonsynonymous SNV,ZSCAN29:NM_152455:exon5:c.C2029T:p.P677S,T,N,D,T,D,T
chr15,43690261,43690261,G,A,R010_S,TUBGCP4,Silent,NM_001286414,exon13,c.G1305A,p.G435G,SNP,SNVindel,exonic,TUBGCP4,NA,synonymous SNV,"TUBGCP4:NM_001286414:exon13:c.G1305A:p.G435G,TUBGCP4:NM_014444:exon13:c.G1302A:p.G434G",NA,NA,NA,NA,NA,NA
chr15,43701151,43701151,G,A,R010_S,TP53BP1,Silent,NM_001141979,exon26,c.C5538T,p.Y1846Y,SNP,SNVindel,exonic,TP53BP1,NA,synonymous SNV,"TP53BP1:NM_001141979:exon26:c.C5538T:p.Y1846Y,TP53BP1:NM_001141980:exon26:c.C5544T:p.Y1848Y,TP53BP1:NM_005657:exon26:c.C5529T:p.Y1843Y,TP53BP1:NM_001355001:exon27:c.C2664T:p.Y888Y",NA,NA,NA,NA,NA,NA
chr15,43712725,43712725,G,A,R010_S,TP53BP1,Missense_Mutation,NM_001141979,exon21,c.C4459T,p.P1487S,SNP,SNVindel,exonic,TP53BP1,NA,nonsynonymous SNV,"TP53BP1:NM_001141979:exon21:c.C4459T:p.P1487S,TP53BP1:NM_001141980:exon21:c.C4459T:p.P1487S,TP53BP1:NM_005657:exon21:c.C4444T:p.P1482S,TP53BP1:NM_001355001:exon22:c.C1579T:p.P527S",T,N,D,T,N,T
chr15,43730581,43730581,G,A,R010_S,TP53BP1,Silent,NM_001141979,exon16,c.C3132T,p.I1044I,SNP,SNVindel,exonic,TP53BP1,NA,synonymous SNV,"TP53BP1:NM_001141979:exon16:c.C3132T:p.I1044I,TP53BP1:NM_001141980:exon16:c.C3132T:p.I1044I,TP53BP1:NM_005657:exon16:c.C3117T:p.I1039I,TP53BP1:NM_001355001:exon17:c.C252T:p.I84I",NA,NA,NA,NA,NA,NA
chr15,43773106,43773106,G,A,R010_S,TP53BP1,Silent,NM_001141979,exon5,c.C486T,p.S162S,SNP,SNVindel,exonic,TP53BP1,NA,synonymous SNV,"TP53BP1:NM_001141979:exon5:c.C486T:p.S162S,TP53BP1:NM_001141980:exon5:c.C486T:p.S162S,TP53BP1:NM_005657:exon5:c.C471T:p.S157S",NA,NA,NA,NA,NA,NA
chr15,43817339,43817339,G,A,R010_S,MAP1A,Missense_Mutation,NM_002373,exon4,c.G3668A,p.G1223D,SNP,SNVindel,exonic,MAP1A,NA,nonsynonymous SNV,MAP1A:NM_002373:exon4:c.G3668A:p.G1223D,D,.,D,T,N,T
chr15,43819502,43819502,C,T,R010_S,MAP1A,Missense_Mutation,NM_002373,exon4,c.C5831T,p.T1944M,SNP,SNVindel,exonic,MAP1A,NA,nonsynonymous SNV,MAP1A:NM_002373:exon4:c.C5831T:p.T1944M,T,N,N,T,N,T
chr15,43820488,43820488,G,A,R010_S,MAP1A,Missense_Mutation,NM_002373,exon4,c.G6817A,p.E2273K,SNP,SNVindel,exonic,MAP1A,NA,nonsynonymous SNV,MAP1A:NM_002373:exon4:c.G6817A:p.E2273K,D,N,D,T,N,T
chr15,44053651,44053651,G,A,R010_S,PDIA3,Missense_Mutation,NM_005313,exon4,c.G394A,p.A132T,SNP,SNVindel,exonic,PDIA3,NA,nonsynonymous SNV,PDIA3:NM_005313:exon4:c.G394A:p.A132T,T,D,D,T,N,T
chr15,44158455,44158455,G,A,R010_S,WDR76,Silent,NM_001167941,exon13,c.G1554A,p.K518K,SNP,SNVindel,exonic,WDR76,NA,synonymous SNV,"WDR76:NM_001167941:exon13:c.G1554A:p.K518K,WDR76:NM_024908:exon13:c.G1746A:p.K582K",NA,NA,NA,NA,NA,NA
chr15,44955637,44955637,G,A,R010_S,SPG11,Missense_Mutation,NM_001160227,exon1,c.C209T,p.P70L,SNP,SNVindel,exonic,SPG11,NA,nonsynonymous SNV,"SPG11:NM_001160227:exon1:c.C209T:p.P70L,SPG11:NM_025137:exon1:c.C209T:p.P70L",T,N,D,T,D,T
chr15,45430177,45430177,G,A,R010_S,DUOX1,Missense_Mutation,NM_175940,exon10,c.G1078A,p.A360T,SNP,SNVindel,exonic,DUOX1,NA,nonsynonymous SNV,"DUOX1:NM_175940:exon10:c.G1078A:p.A360T,DUOX1:NM_017434:exon11:c.G1078A:p.A360T",D,D,D,T,D,T
chr15,45439753,45439753,C,T,R010_S,DUOX1,Silent,NM_175940,exon19,c.C2445T,p.P815P,SNP,SNVindel,exonic,DUOX1,NA,synonymous SNV,"DUOX1:NM_175940:exon19:c.C2445T:p.P815P,DUOX1:NM_017434:exon20:c.C2445T:p.P815P",NA,NA,NA,NA,NA,NA
chr15,48717609,48717609,G,A,R010_S,FBN1,Silent,NM_000138,exon60,c.C7410T,p.C2470C,SNP,SNVindel,exonic,FBN1,NA,synonymous SNV,FBN1:NM_000138:exon60:c.C7410T:p.C2470C,NA,NA,NA,NA,NA,NA
chr15,48764821,48764821,G,A,R010_S,FBN1,Silent,NM_000138,exon35,c.C4263T,p.L1421L,SNP,SNVindel,exonic,FBN1,NA,synonymous SNV,FBN1:NM_000138:exon35:c.C4263T:p.L1421L,NA,NA,NA,NA,NA,NA
chr15,50891364,50891364,G,A,R010_S,TRPM7,Missense_Mutation,NM_001301212,exon22,c.C3118T,p.P1040S,SNP,SNVindel,exonic,TRPM7,NA,nonsynonymous SNV,"TRPM7:NM_001301212:exon22:c.C3118T:p.P1040S,TRPM7:NM_017672:exon22:c.C3118T:p.P1040S",D,D,D,D,D,D
chr15,52536707,52536707,C,T,R010_S,MYO5C,Missense_Mutation,NM_018728,exon19,c.G2236A,p.A746T,SNP,SNVindel,exonic,MYO5C,NA,nonsynonymous SNV,MYO5C:NM_018728:exon19:c.G2236A:p.A746T,D,D,D,D,D,D
chr15,52611481,52611481,C,T,R010_S,MYO5A,Silent,NM_001142495,exon37,c.G4854A,p.G1618G,SNP,SNVindel,exonic,MYO5A,NA,synonymous SNV,"MYO5A:NM_001142495:exon37:c.G4854A:p.G1618G,MYO5A:NM_000259:exon38:c.G4935A:p.G1645G",NA,NA,NA,NA,NA,NA
chr15,53997267,53997267,G,A,R010_S,WDR72,Silent,NM_182758,exon11,c.C1266T,p.G422G,SNP,SNVindel,exonic,WDR72,NA,synonymous SNV,WDR72:NM_182758:exon11:c.C1266T:p.G422G,NA,NA,NA,NA,NA,NA
chr15,56142820,56142820,G,A,R010_S,NEDD4,Missense_Mutation,NM_198400,exon7,c.C2308T,p.L770F,SNP,SNVindel,exonic,NEDD4,NA,nonsynonymous SNV,"NEDD4:NM_198400:exon7:c.C2308T:p.L770F,NEDD4:NM_001284340:exon9:c.C2473T:p.L825F,NEDD4:NM_001284338:exon10:c.C2524T:p.L842F,NEDD4:NM_001284339:exon10:c.C2476T:p.L826F,NEDD4:NM_001329212:exon14:c.C826T:p.L276F,NEDD4:NM_006154:exon14:c.C1267T:p.L423F",D,D,D,D,D,D
chr15,56387663,56387663,C,T,R010_S,RFX7,Missense_Mutation,NM_001368073,exon9,c.G1972A,p.D658N,SNP,SNVindel,exonic,RFX7,NA,nonsynonymous SNV,"RFX7:NM_001368073:exon9:c.G1972A:p.D658N,RFX7:NM_001368074:exon9:c.G1972A:p.D658N,RFX7:NM_001370554:exon9:c.G1972A:p.D658N,RFX7:NM_022841:exon10:c.G2263A:p.D755N,RFX7:NM_001370561:exon12:c.G2263A:p.D755N",D,N,D,T,N,T
chr15,58938359,58938359,C,T,R010_S,ADAM10,Silent,NM_001110,exon6,c.G630A,p.R210R,SNP,SNVindel,exonic,ADAM10,NA,synonymous SNV,"ADAM10:NM_001110:exon6:c.G630A:p.R210R,ADAM10:NM_001320570:exon6:c.G630A:p.R210R",NA,NA,NA,NA,NA,NA
chr15,59519753,59519753,C,T,R010_S,MYO1E,Missense_Mutation,NM_004998,exon7,c.G547A,p.E183K,SNP,SNVindel,exonic,MYO1E,NA,nonsynonymous SNV,MYO1E:NM_004998:exon7:c.G547A:p.E183K,D,D,D,D,D,D
chr15,60741401,60741401,C,T,R010_S,ICE2,Missense_Mutation,NM_001018089,exon10,c.G1354A,p.D452N,SNP,SNVindel,exonic,ICE2,NA,nonsynonymous SNV,"ICE2:NM_001018089:exon10:c.G1354A:p.D452N,ICE2:NM_024611:exon10:c.G1765A:p.D589N",T,N,N,.,N,T
chr15,60849115,60849115,G,A,R010_S,RORA,Nonsense_Mutation,NM_134260,exon3,c.C232T,p.Q78X,SNP,SNVindel,exonic,RORA,NA,stopgain,RORA:NM_134260:exon3:c.C232T:p.Q78X,.,N,A,.,.,.
chr15,62359840,62359840,G,A,R010_S,C2CD4A,Missense_Mutation,NM_207322,exon2,c.G28A,p.G10S,SNP,SNVindel,exonic,C2CD4A,NA,nonsynonymous SNV,C2CD4A:NM_207322:exon2:c.G28A:p.G10S,T,N,N,T,N,T
chr15,63125767,63125767,C,T,R010_S,TLN2,Missense_Mutation,NM_015059,exon52,c.C7067T,p.A2356V,SNP,SNVindel,exonic,TLN2,NA,nonsynonymous SNV,TLN2:NM_015059:exon52:c.C7067T:p.A2356V,D,D,D,T,D,T
chr15,63943520,63943520,G,A,R010_S,HERC1,Missense_Mutation,NM_003922,exon53,c.C10478T,p.S3493F,SNP,SNVindel,exonic,HERC1,NA,nonsynonymous SNV,HERC1:NM_003922:exon53:c.C10478T:p.S3493F,T,N,D,T,N,T
chr15,64422171,64422171,C,T,R010_S,SNX1,Silent,NM_148955,exon7,c.C669T,p.F223F,SNP,SNVindel,exonic,SNX1,NA,synonymous SNV,"SNX1:NM_148955:exon7:c.C669T:p.F223F,SNX1:NM_001242933:exon9:c.C864T:p.F288F,SNX1:NM_003099:exon9:c.C864T:p.F288F",NA,NA,NA,NA,NA,NA
chr15,64448287,64448287,C,T,R010_S,PPIB,Missense_Mutation,NM_000942,exon5,c.G586A,p.D196N,SNP,SNVindel,exonic,PPIB,NA,nonsynonymous SNV,PPIB:NM_000942:exon5:c.G586A:p.D196N,T,D,D,T,D,T
chr15,64701828,64701828,G,A,R010_S,TRIP4,Missense_Mutation,NM_001321924,exon7,c.G154A,p.V52I,SNP,SNVindel,exonic,TRIP4,NA,nonsynonymous SNV,"TRIP4:NM_001321924:exon7:c.G154A:p.V52I,TRIP4:NM_016213:exon7:c.G844A:p.V282I",D,D,D,.,N,T
chr15,65113675,65113675,C,T,R010_S,PIF1,Missense_Mutation,NM_001286496,exon5,c.G862A,p.A288T,SNP,SNVindel,exonic,PIF1,NA,nonsynonymous SNV,"PIF1:NM_001286496:exon5:c.G862A:p.A288T,PIF1:NM_001286497:exon5:c.G862A:p.A288T,PIF1:NM_001286499:exon5:c.G703A:p.A235T,PIF1:NM_025049:exon5:c.G862A:p.A288T",D,N,D,T,D,T
chr15,65450233,65450233,G,A,R010_S,CLPX,Missense_Mutation,NM_006660,exon8,c.C908T,p.A303V,SNP,SNVindel,exonic,CLPX,NA,nonsynonymous SNV,CLPX:NM_006660:exon8:c.C908T:p.A303V,D,D,D,T,D,T
chr15,65628202,65628202,G,A,R010_S,IGDCC3,Missense_Mutation,NM_004884,exon3,c.C502T,p.P168S,SNP,SNVindel,exonic,IGDCC3,NA,nonsynonymous SNV,IGDCC3:NM_004884:exon3:c.C502T:p.P168S,D,D,D,T,D,D
chr15,65694726,65694726,G,A,R010_S,IGDCC4,Silent,NM_020962,exon4,c.C663T,p.H221H,SNP,SNVindel,exonic,IGDCC4,NA,synonymous SNV,IGDCC4:NM_020962:exon4:c.C663T:p.H221H,NA,NA,NA,NA,NA,NA
chr15,65703380,65703380,C,T,R010_S,IGDCC4,Silent,NM_020962,exon2,c.G399A,p.Q133Q,SNP,SNVindel,exonic,IGDCC4,NA,synonymous SNV,IGDCC4:NM_020962:exon2:c.G399A:p.Q133Q,NA,NA,NA,NA,NA,NA
chr15,65756117,65756117,G,A,R010_S,DPP8,Silent,NM_001320876,exon15,c.C1953T,p.F651F,SNP,SNVindel,exonic,DPP8,NA,synonymous SNV,"DPP8:NM_001320876:exon15:c.C1953T:p.F651F,DPP8:NM_017743:exon15:c.C1953T:p.F651F,DPP8:NM_130434:exon15:c.C1953T:p.F651F,DPP8:NM_001320875:exon16:c.C2001T:p.F667F,DPP8:NM_197960:exon16:c.C2001T:p.F667F,DPP8:NM_197961:exon16:c.C2001T:p.F667F",NA,NA,NA,NA,NA,NA
chr15,66857679,66857679,G,A,R010_S,LCTL,Missense_Mutation,NM_207338,exon1,c.C25T,p.L9F,SNP,SNVindel,exonic,LCTL,NA,nonsynonymous SNV,LCTL:NM_207338:exon1:c.C25T:p.L9F,T,N,D,T,N,T
chr15,70987421,70987421,C,T,R010_S,UACA,Missense_Mutation,NM_001008224,exon3,c.G197A,p.G66E,SNP,SNVindel,exonic,UACA,NA,nonsynonymous SNV,"UACA:NM_001008224:exon3:c.G197A:p.G66E,UACA:NM_018003:exon3:c.G236A:p.G79E",D,D,D,T,D,D
chr15,71535189,71535189,G,A,R010_S,THSD4,Silent,NM_024817,exon4,c.G666A,p.G222G,SNP,SNVindel,exonic,THSD4,NA,synonymous SNV,THSD4:NM_024817:exon4:c.G666A:p.G222G,NA,NA,NA,NA,NA,NA
chr15,72541635,72541635,G,A,R010_S,PARP6,Silent,NM_001323515,exon20,c.C1455T,p.G485G,SNP,SNVindel,exonic,PARP6,NA,synonymous SNV,"PARP6:NM_001323515:exon20:c.C1455T:p.G485G,PARP6:NM_001323516:exon20:c.C1455T:p.G485G,PARP6:NM_001323519:exon20:c.C1452T:p.G484G,PARP6:NM_001323521:exon20:c.C1452T:p.G484G,PARP6:NM_001323522:exon20:c.C1512T:p.G504G,PARP6:NM_001323523:exon20:c.C1452T:p.G484G,PARP6:NM_001323524:exon20:c.C1452T:p.G484G,PARP6:NM_001323525:exon20:c.C1515T:p.G505G,PARP6:NM_001323526:exon20:c.C1452T:p.G484G,PARP6:NM_001323528:exon20:c.C1515T:p.G505G,PARP6:NM_001323530:exon20:c.C1455T:p.G485G,PARP6:NM_001323531:exon20:c.C1515T:p.G505G,PARP6:NM_001323532:exon20:c.C1512T:p.G504G,PARP6:NM_020214:exon20:c.C1512T:p.G504G",NA,NA,NA,NA,NA,NA
chr15,72643501,72643501,G,A,R010_S,HEXA,Silent,NM_000520,exon6,c.C645T,p.S215S,SNP,SNVindel,exonic,HEXA,NA,synonymous SNV,"HEXA:NM_000520:exon6:c.C645T:p.S215S,HEXA:NM_001318825:exon6:c.C678T:p.S226S",NA,NA,NA,NA,NA,NA
chr15,72648963,72648963,G,A,R010_S,HEXA,Silent,NM_001318825,exon2,c.C282T,p.F94F,SNP,SNVindel,exonic,HEXA,NA,synonymous SNV,HEXA:NM_001318825:exon2:c.C282T:p.F94F,NA,NA,NA,NA,NA,NA
chr15,72668241,72668241,G,A,R010_S,HEXA,Missense_Mutation,NM_000520,exon1,c.C73T,p.P25S,SNP,SNVindel,exonic,HEXA,NA,nonsynonymous SNV,"HEXA:NM_000520:exon1:c.C73T:p.P25S,HEXA:NM_001318825:exon1:c.C73T:p.P25S",D,D,D,D,D,D
chr15,73615257,73615257,G,A,R010_S,HCN4,Silent,NM_005477,exon8,c.C3177T,p.S1059S,SNP,SNVindel,exonic,HCN4,NA,synonymous SNV,HCN4:NM_005477:exon8:c.C3177T:p.S1059S,NA,NA,NA,NA,NA,NA
chr15,74032740,74032740,C,T,R010_S,INSYN1,Missense_Mutation,NM_001039614,exon2,c.G400A,p.G134R,SNP,SNVindel,exonic,INSYN1,NA,nonsynonymous SNV,"INSYN1:NM_001039614:exon2:c.G400A:p.G134R,INSYN1:NM_001303254:exon3:c.G316A:p.G106R",T,N,N,T,N,T
chr15,74494498,74494498,C,T,R010_S,STRA6,Silent,NM_001142617,exon2,c.G111A,p.E37E,SNP,SNVindel,exonic,STRA6,NA,synonymous SNV,"STRA6:NM_001142617:exon2:c.G111A:p.E37E,STRA6:NM_001142618:exon2:c.G111A:p.E37E,STRA6:NM_001142619:exon2:c.G111A:p.E37E,STRA6:NM_001142620:exon2:c.G111A:p.E37E,STRA6:NM_001199040:exon2:c.G222A:p.E74E,STRA6:NM_001199041:exon2:c.G156A:p.E52E,STRA6:NM_001199042:exon2:c.G228A:p.E76E,STRA6:NM_022369:exon2:c.G111A:p.E37E",NA,NA,NA,NA,NA,NA
chr15,74623441,74623441,G,A,R010_S,CCDC33,Silent,NM_001287181,exon4,c.G444A,p.R148R,SNP,SNVindel,exonic,CCDC33,NA,synonymous SNV,"CCDC33:NM_001287181:exon4:c.G444A:p.R148R,CCDC33:NM_182791:exon4:c.G444A:p.R148R,CCDC33:NM_025055:exon14:c.G1665A:p.R555R",NA,NA,NA,NA,NA,NA
chr15,74932908,74932908,C,T,R010_S,EDC3,Silent,NM_001351379,exon5,c.G438A,p.L146L,SNP,SNVindel,exonic,EDC3,NA,synonymous SNV,"EDC3:NM_001351379:exon5:c.G438A:p.L146L,EDC3:NM_025083:exon5:c.G873A:p.L291L,EDC3:NM_001142444:exon6:c.G873A:p.L291L,EDC3:NM_001351378:exon7:c.G873A:p.L291L,EDC3:NM_001142443:exon8:c.G873A:p.L291L",NA,NA,NA,NA,NA,NA
chr15,75105220,75105220,C,T,R010_S,LMAN1L,Missense_Mutation,NM_021819,exon1,c.C25T,p.P9S,SNP,SNVindel,exonic,LMAN1L,NA,nonsynonymous SNV,LMAN1L:NM_021819:exon1:c.C25T:p.P9S,D,N,N,T,N,T
chr15,75115969,75115969,C,T,R010_S,LMAN1L,Silent,NM_021819,exon12,c.C1269T,p.F423F,SNP,SNVindel,exonic,LMAN1L,NA,synonymous SNV,LMAN1L:NM_021819:exon12:c.C1269T:p.F423F,NA,NA,NA,NA,NA,NA
chr15,75182963,75182963,G,A,R010_S,MPI,Missense_Mutation,NM_001289155,exon2,c.G112A,p.A38T,SNP,SNVindel,exonic,MPI,NA,nonsynonymous SNV,"MPI:NM_001289155:exon2:c.G112A:p.A38T,MPI:NM_001289157:exon2:c.G112A:p.A38T,MPI:NM_001330372:exon2:c.G52A:p.A18T,MPI:NM_002435:exon2:c.G112A:p.A38T",T,N,D,D,N,T
chr15,77239825,77239825,G,A,R010_S,RCN2,Missense_Mutation,NM_002902,exon5,c.G625A,p.E209K,SNP,SNVindel,exonic,RCN2,NA,nonsynonymous SNV,"RCN2:NM_002902:exon5:c.G625A:p.E209K,RCN2:NM_001271837:exon6:c.G679A:p.E227K",D,N,D,T,N,T
chr15,78393699,78393699,C,T,R010_S,SH2D7,Silent,NM_001101404,exon5,c.C1104T,p.D368D,SNP,SNVindel,exonic,SH2D7,NA,synonymous SNV,SH2D7:NM_001101404:exon5:c.C1104T:p.D368D,NA,NA,NA,NA,NA,NA
chr15,78819882,78819882,C,T,R010_S,HYKK,Missense_Mutation,NM_001013619,exon4,c.C638T,p.T213I,SNP,SNVindel,exonic,HYKK,NA,nonsynonymous SNV,"HYKK:NM_001013619:exon4:c.C638T:p.T213I,HYKK:NM_001083612:exon4:c.C638T:p.T213I",D,N,N,T,N,T
chr15,78825712,78825712,G,A,R010_S,HYKK,Missense_Mutation,NM_001013619,exon5,c.G822A,p.M274I,SNP,SNVindel,exonic,HYKK,NA,nonsynonymous SNV,HYKK:NM_001013619:exon5:c.G822A:p.M274I,D,D,D,T,N,T
chr15,79082107,79082107,G,A,R010_S,ADAMTS7,Missense_Mutation,NM_014272,exon7,c.C1102T,p.P368S,SNP,SNVindel,exonic,ADAMTS7,NA,nonsynonymous SNV,ADAMTS7:NM_014272:exon7:c.C1102T:p.P368S,T,D,D,D,D,D
chr15,79317750,79317750,G,A,R010_S,RASGRF1,Missense_Mutation,NM_001145648,exon10,c.C1448T,p.S483F,SNP,SNVindel,exonic,RASGRF1,NA,nonsynonymous SNV,"RASGRF1:NM_001145648:exon10:c.C1448T:p.S483F,RASGRF1:NM_002891:exon10:c.C1448T:p.S483F",D,D,D,T,D,T
chr15,80873632,80873632,C,T,R010_S,ARNT2,Missense_Mutation,NM_014862,exon17,c.C1805T,p.T602M,SNP,SNVindel,exonic,ARNT2,NA,nonsynonymous SNV,ARNT2:NM_014862:exon17:c.C1805T:p.T602M,D,N,D,T,N,T
chr15,81294620,81294620,G,A,R010_S,TLNRD1,Missense_Mutation,NM_022566,exon1,c.G8A,p.S3N,SNP,SNVindel,exonic,TLNRD1,NA,nonsynonymous SNV,TLNRD1:NM_022566:exon1:c.G8A:p.S3N,D,U,D,.,N,T
chr15,83805288,83805288,G,A,R010_S,TM6SF1,Missense_Mutation,NM_001353883,exon8,c.G380A,p.R127K,SNP,SNVindel,exonic,TM6SF1,NA,nonsynonymous SNV,"TM6SF1:NM_001353883:exon8:c.G380A:p.R127K,TM6SF1:NM_001353884:exon8:c.G380A:p.R127K,TM6SF1:NM_001144903:exon9:c.G884A:p.R295K,TM6SF1:NM_001353880:exon9:c.G611A:p.R204K,TM6SF1:NM_001353879:exon10:c.G704A:p.R235K,TM6SF1:NM_001353881:exon10:c.G533A:p.R178K,TM6SF1:NM_001353882:exon10:c.G533A:p.R178K,TM6SF1:NM_023003:exon10:c.G977A:p.R326K",D,D,D,T,D,T
chr15,85334085,85334085,C,T,R010_S,ZNF592,Silent,NM_014630,exon5,c.C2370T,p.C790C,SNP,SNVindel,exonic,ZNF592,NA,synonymous SNV,ZNF592:NM_014630:exon5:c.C2370T:p.C790C,NA,NA,NA,NA,NA,NA
chr15,85656615,85656615,C,T,R010_S,PDE8A,Silent,NM_173454,exon12,c.C984T,p.S328S,SNP,SNVindel,exonic,PDE8A,NA,synonymous SNV,"PDE8A:NM_173454:exon12:c.C984T:p.S328S,PDE8A:NM_001243137:exon13:c.C906T:p.S302S,PDE8A:NM_002605:exon13:c.C1122T:p.S374S",NA,NA,NA,NA,NA,NA
chr15,86123420,86123420,C,T,R010_S,AKAP13,Silent,NM_006738,exon7,c.C2121T,p.S707S,SNP,SNVindel,exonic,AKAP13,NA,synonymous SNV,"AKAP13:NM_006738:exon7:c.C2121T:p.S707S,AKAP13:NM_007200:exon7:c.C2121T:p.S707S",NA,NA,NA,NA,NA,NA
chr15,89398423,89398423,C,T,R010_S,ACAN,Silent,NM_001135,exon12,c.C2607T,p.D869D,SNP,SNVindel,exonic,ACAN,NA,synonymous SNV,"ACAN:NM_001135:exon12:c.C2607T:p.D869D,ACAN:NM_001369268:exon12:c.C2607T:p.D869D,ACAN:NM_013227:exon12:c.C2607T:p.D869D",NA,NA,NA,NA,NA,NA
chr15,89430423,89430423,C,T,R010_S,HAPLN3,Missense_Mutation,NM_178232,exon2,c.G107A,p.G36D,SNP,SNVindel,exonic,HAPLN3,NA,nonsynonymous SNV,"HAPLN3:NM_178232:exon2:c.G107A:p.G36D,HAPLN3:NM_001307952:exon3:c.G293A:p.G98D",T,N,N,T,N,T
chr15,89450509,89450509,C,T,R010_S,MFGE8,Missense_Mutation,NM_001310319,exon2,c.G172A,p.V58I,SNP,SNVindel,exonic,MFGE8,NA,nonsynonymous SNV,"MFGE8:NM_001310319:exon2:c.G172A:p.V58I,MFGE8:NM_001114614:exon3:c.G304A:p.V102I,MFGE8:NM_005928:exon3:c.G304A:p.V102I,MFGE8:NM_001310320:exon4:c.G280A:p.V94I",T,D,N,D,N,D
chr15,89868884,89868884,G,A,R010_S,POLG,Silent,NM_001126131,exon10,c.C1746T,p.D582D,SNP,SNVindel,exonic,POLG,NA,synonymous SNV,"POLG:NM_001126131:exon10:c.C1746T:p.D582D,POLG:NM_002693:exon10:c.C1746T:p.D582D",NA,NA,NA,NA,NA,NA
chr15,90168016,90168016,G,A,R010_S,TICRR,Missense_Mutation,NM_001308025,exon20,c.G4472A,p.R1491K,SNP,SNVindel,exonic,TICRR,NA,nonsynonymous SNV,"TICRR:NM_001308025:exon20:c.G4472A:p.R1491K,TICRR:NM_152259:exon20:c.G4475A:p.R1492K",T,N,N,T,N,T
chr15,90193070,90193070,G,A,R010_S,KIF7,Missense_Mutation,NM_198525,exon3,c.C431T,p.S144F,SNP,SNVindel,exonic,KIF7,NA,nonsynonymous SNV,KIF7:NM_198525:exon3:c.C431T:p.S144F,D,.,D,T,D,D
chr15,90320407,90320407,G,A,R010_S,MESP2,Silent,NM_001039958,exon1,c.G819A,p.T273T,SNP,SNVindel,exonic,MESP2,NA,synonymous SNV,MESP2:NM_001039958:exon1:c.G819A:p.T273T,NA,NA,NA,NA,NA,NA
chr15,90904440,90904440,C,T,R010_S,ZNF774,Silent,NM_001004309,exon4,c.C1377T,p.F459F,SNP,SNVindel,exonic,ZNF774,NA,synonymous SNV,ZNF774:NM_001004309:exon4:c.C1377T:p.F459F,NA,NA,NA,NA,NA,NA
chr15,91436609,91436609,C,T,R010_S,FES,Silent,NM_001143783,exon14,c.C1836T,p.G612G,SNP,SNVindel,exonic,FES,NA,synonymous SNV,"FES:NM_001143783:exon14:c.C1836T:p.G612G,FES:NM_001143784:exon14:c.C1800T:p.G600G,FES:NM_001143785:exon14:c.C1626T:p.G542G,FES:NM_002005:exon16:c.C2010T:p.G670G",NA,NA,NA,NA,NA,NA
chr15,93588527,93588527,G,A,R010_S,RGMA,Missense_Mutation,NM_001166286,exon3,c.C1006T,p.P336S,SNP,SNVindel,exonic,RGMA,NA,nonsynonymous SNV,"RGMA:NM_001166286:exon3:c.C1006T:p.P336S,RGMA:NM_001166283:exon4:c.C1078T:p.P360S,RGMA:NM_001166287:exon4:c.C1006T:p.P336S,RGMA:NM_001166288:exon4:c.C1006T:p.P336S,RGMA:NM_001166289:exon4:c.C1006T:p.P336S,RGMA:NM_020211:exon4:c.C1054T:p.P352S",T,D,D,D,N,T
chr15,93588765,93588765,G,A,R010_S,RGMA,Silent,NM_001166286,exon3,c.C768T,p.I256I,SNP,SNVindel,exonic,RGMA,NA,synonymous SNV,"RGMA:NM_001166286:exon3:c.C768T:p.I256I,RGMA:NM_001166283:exon4:c.C840T:p.I280I,RGMA:NM_001166287:exon4:c.C768T:p.I256I,RGMA:NM_001166288:exon4:c.C768T:p.I256I,RGMA:NM_001166289:exon4:c.C768T:p.I256I,RGMA:NM_020211:exon4:c.C816T:p.I272I",NA,NA,NA,NA,NA,NA
chr15,93595690,93595690,C,T,R010_S,RGMA,Missense_Mutation,NM_001166286,exon2,c.G130A,p.A44T,SNP,SNVindel,exonic,RGMA,NA,nonsynonymous SNV,"RGMA:NM_001166286:exon2:c.G130A:p.A44T,RGMA:NM_001166283:exon3:c.G202A:p.A68T,RGMA:NM_001166287:exon3:c.G130A:p.A44T,RGMA:NM_001166288:exon3:c.G130A:p.A44T,RGMA:NM_001166289:exon3:c.G130A:p.A44T,RGMA:NM_020211:exon3:c.G178A:p.A60T",T,D,D,D,N,D
chr15,99645544,99645544,C,T,R010_S,SYNM,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SYNM,NA,unknown,UNKNOWN,D,.,N,D,D,D
chr15,101718609,101718609,C,T,R010_S,CHSY1,Missense_Mutation,NM_014918,exon3,c.G1393A,p.V465I,SNP,SNVindel,exonic,CHSY1,NA,nonsynonymous SNV,CHSY1:NM_014918:exon3:c.G1393A:p.V465I,T,D,D,T,N,T
chr15,101814628,101814628,C,T,R010_S,SELENOS,Missense_Mutation,NM_203472,exon5,c.G481A,p.G161R,SNP,SNVindel,exonic,SELENOS,NA,nonsynonymous SNV,SELENOS:NM_203472:exon5:c.G481A:p.G161R,D,D,D,.,D,T
chr15,102226200,102226200,C,T,R010_S,TARSL2,Nonsense_Mutation,NM_152334,exon11,c.G1386A,p.W462X,SNP,SNVindel,exonic,TARSL2,NA,stopgain,TARSL2:NM_152334:exon11:c.G1386A:p.W462X,.,D,A,.,.,.
chr16,312511,312511,G,A,R010_S,FAM234A,Silent,NM_001284497,exon8,c.G930A,p.E310E,SNP,SNVindel,exonic,FAM234A,NA,synonymous SNV,"FAM234A:NM_001284497:exon8:c.G930A:p.E310E,FAM234A:NM_032039:exon8:c.G930A:p.E310E",NA,NA,NA,NA,NA,NA
chr16,335619,335619,G,A,R010_S,PDIA2,Silent,NM_006849,exon7,c.G1035A,p.K345K,SNP,SNVindel,exonic,PDIA2,NA,synonymous SNV,PDIA2:NM_006849:exon7:c.G1035A:p.K345K,NA,NA,NA,NA,NA,NA
chr16,449005,449005,C,T,R010_S,NME4,Missense_Mutation,NM_001286433,exon2,c.C107T,p.T36I,SNP,SNVindel,exonic,NME4,NA,nonsynonymous SNV,"NME4:NM_001286433:exon2:c.C107T:p.T36I,NME4:NM_001286435:exon2:c.C107T:p.T36I,NME4:NM_005009:exon2:c.C107T:p.T36I",D,N,D,T,N,T
chr16,596936,596936,C,T,R010_S,CAPN15,Missense_Mutation,NM_005632,exon4,c.C98T,p.P33L,SNP,SNVindel,exonic,CAPN15,NA,nonsynonymous SNV,CAPN15:NM_005632:exon4:c.C98T:p.P33L,D,U,D,D,D,D
chr16,597370,597370,C,T,R010_S,CAPN15,Missense_Mutation,NM_005632,exon4,c.C532T,p.P178S,SNP,SNVindel,exonic,CAPN15,NA,nonsynonymous SNV,CAPN15:NM_005632:exon4:c.C532T:p.P178S,D,D,D,D,N,D
chr16,613365,613365,C,T,R010_S,PRR35,Missense_Mutation,NM_145270,exon2,c.C71T,p.P24L,SNP,SNVindel,exonic,PRR35,NA,nonsynonymous SNV,PRR35:NM_145270:exon2:c.C71T:p.P24L,D,D,D,.,D,T
chr16,629109,629109,C,T,R010_S,PIGQ,Missense_Mutation,NM_004204,exon7,c.C1264T,p.R422C,SNP,SNVindel,exonic,PIGQ,NA,nonsynonymous SNV,"PIGQ:NM_004204:exon7:c.C1264T:p.R422C,PIGQ:NM_148920:exon7:c.C1264T:p.R422C",D,D,D,T,D,T
chr16,703614,703614,G,A,R010_S,WDR90,Silent,NM_145294,exon12,c.G1323A,p.Q441Q,SNP,SNVindel,exonic,WDR90,NA,synonymous SNV,WDR90:NM_145294:exon12:c.G1323A:p.Q441Q,NA,NA,NA,NA,NA,NA
chr16,706331,706331,G,A,R010_S,WDR90,Missense_Mutation,NM_145294,exon18,c.G1996A,p.V666I,SNP,SNVindel,exonic,WDR90,NA,nonsynonymous SNV,WDR90:NM_145294:exon18:c.G1996A:p.V666I,T,N,N,T,N,T
chr16,727333,727333,G,A,R010_S,RHBDL1,Silent,NM_001278721,exon4,c.G408A,p.E136E,SNP,SNVindel,exonic,RHBDL1,NA,synonymous SNV,"RHBDL1:NM_001278721:exon4:c.G408A:p.E136E,RHBDL1:NM_001318733:exon4:c.G828A:p.E276E,RHBDL1:NM_001278720:exon5:c.G633A:p.E211E",NA,NA,NA,NA,NA,NA
chr16,737123,737123,G,A,R010_S,WDR24,Missense_Mutation,NM_032259,exon3,c.C953T,p.S318F,SNP,SNVindel,exonic,WDR24,NA,nonsynonymous SNV,WDR24:NM_032259:exon3:c.C953T:p.S318F,D,D,D,T,D,T
chr16,776076,776076,G,A,R010_S,CCDC78,Nonsense_Mutation,NM_001031737,exon2,c.C70T,p.R24X,SNP,SNVindel,exonic,CCDC78,NA,stopgain,CCDC78:NM_001031737:exon2:c.C70T:p.R24X,.,N,A,.,.,.
chr16,783308,783308,G,A,R010_S,CIAO3,Silent,NM_022493,exon7,c.C813T,p.V271V,SNP,SNVindel,exonic,CIAO3,NA,synonymous SNV,"CIAO3:NM_022493:exon7:c.C813T:p.V271V,CIAO3:NM_001304799:exon8:c.C507T:p.V169V",NA,NA,NA,NA,NA,NA
chr16,1486793,1486793,C,T,R010_S,CCDC154,Missense_Mutation,NM_001143980,exon12,c.G1310A,p.G437D,SNP,SNVindel,exonic,CCDC154,NA,nonsynonymous SNV,CCDC154:NM_001143980:exon12:c.G1310A:p.G437D,T,N,N,.,N,T
chr16,1489078,1489078,C,T,R010_S,CCDC154,Missense_Mutation,NM_001143980,exon7,c.G725A,p.R242K,SNP,SNVindel,exonic,CCDC154,NA,nonsynonymous SNV,CCDC154:NM_001143980:exon7:c.G725A:p.R242K,T,N,N,.,N,T
chr16,1493871,1493871,C,T,R010_S,CCDC154,Silent,NM_001143980,exon2,c.G150A,p.E50E,SNP,SNVindel,exonic,CCDC154,NA,synonymous SNV,CCDC154:NM_001143980:exon2:c.G150A:p.E50E,NA,NA,NA,NA,NA,NA
chr16,1604890,1604890,G,A,R010_S,TMEM204,Missense_Mutation,NM_024600,exon3,c.G544A,p.A182T,SNP,SNVindel,exonic,TMEM204,NA,nonsynonymous SNV,"TMEM204:NM_024600:exon3:c.G544A:p.A182T,TMEM204:NM_001256541:exon4:c.G544A:p.A182T",D,D,D,T,N,T
chr16,1812715,1812715,G,A,R010_S,MAPK8IP3,Silent,NM_001040439,exon14,c.G1689A,p.K563K,SNP,SNVindel,exonic,MAPK8IP3,NA,synonymous SNV,"MAPK8IP3:NM_001040439:exon14:c.G1689A:p.K563K,MAPK8IP3:NM_001318852:exon15:c.G1710A:p.K570K,MAPK8IP3:NM_015133:exon15:c.G1707A:p.K569K",NA,NA,NA,NA,NA,NA
chr16,1962149,1962149,G,A,R010_S,HS3ST6,Silent,NM_001009606,exon2,c.C471T,p.Y157Y,SNP,SNVindel,exonic,HS3ST6,NA,synonymous SNV,HS3ST6:NM_001009606:exon2:c.C471T:p.Y157Y,NA,NA,NA,NA,NA,NA
chr16,2052351,2052351,G,A,R010_S,ZNF598,Nonsense_Mutation,NM_178167,exon7,c.C751T,p.Q251X,SNP,SNVindel,exonic,ZNF598,NA,stopgain,ZNF598:NM_178167:exon7:c.C751T:p.Q251X,.,D,A,.,.,.
chr16,2069972,2069972,C,T,R010_S,NPW,Missense_Mutation,NM_001099456,exon1,c.C70T,p.L24F,SNP,SNVindel,exonic,NPW,NA,nonsynonymous SNV,NPW:NM_001099456:exon1:c.C70T:p.L24F,T,U,D,T,N,T
chr16,2134297,2134297,C,T,R010_S,TSC2,Silent,NM_001318831,exon30,c.C3342T,p.P1114P,SNP,SNVindel,exonic,TSC2,NA,synonymous SNV,"TSC2:NM_001318831:exon30:c.C3342T:p.P1114P,TSC2:NM_001318827:exon31:c.C3765T:p.P1255P,TSC2:NM_001318829:exon31:c.C3729T:p.P1243P,TSC2:NM_001077183:exon32:c.C3873T:p.P1291P,TSC2:NM_001318832:exon32:c.C3906T:p.P1302P,TSC2:NM_001363528:exon32:c.C3876T:p.P1292P,TSC2:NM_001114382:exon33:c.C4005T:p.P1335P,TSC2:NM_001370404:exon33:c.C3942T:p.P1314P,TSC2:NM_001370405:exon33:c.C3945T:p.P1315P,TSC2:NM_021055:exon33:c.C3945T:p.P1315P,TSC2:NM_000548:exon34:c.C4074T:p.P1358P",NA,NA,NA,NA,NA,NA
chr16,2230574,2230574,C,T,R010_S,CASKIN1,Missense_Mutation,NM_020764,exon18,c.G2795A,p.R932H,SNP,SNVindel,exonic,CASKIN1,NA,nonsynonymous SNV,CASKIN1:NM_020764:exon18:c.G2795A:p.R932H,D,.,D,T,D,T
chr16,2246407,2246407,C,T,R010_S,CASKIN1,Silent,NM_020764,exon1,c.G27A,p.Q9Q,SNP,SNVindel,exonic,CASKIN1,NA,synonymous SNV,CASKIN1:NM_020764:exon1:c.G27A:p.Q9Q,NA,NA,NA,NA,NA,NA
chr16,2329037,2329037,C,T,R010_S,ABCA3,Missense_Mutation,NM_001089,exon29,c.G4454A,p.G1485D,SNP,SNVindel,exonic,ABCA3,NA,nonsynonymous SNV,ABCA3:NM_001089:exon29:c.G4454A:p.G1485D,D,D,D,D,D,D
chr16,2331203,2331203,G,A,R010_S,ABCA3,Missense_Mutation,NM_001089,exon28,c.C4184T,p.P1395L,SNP,SNVindel,exonic,ABCA3,NA,nonsynonymous SNV,ABCA3:NM_001089:exon28:c.C4184T:p.P1395L,T,N,D,D,D,T
chr16,2580995,2580995,G,A,R010_S,CEMP1,Missense_Mutation,NM_001048212,exon1,c.C80T,p.T27I,SNP,SNVindel,exonic,CEMP1,NA,nonsynonymous SNV,CEMP1:NM_001048212:exon1:c.C80T:p.T27I,.,.,N,T,D,T
chr16,2762722,2762722,G,A,R010_S,PRSS27,Missense_Mutation,NM_001318395,exon5,c.C466T,p.R156C,SNP,SNVindel,exonic,PRSS27,NA,nonsynonymous SNV,"PRSS27:NM_001318395:exon5:c.C466T:p.R156C,PRSS27:NM_031948:exon6:c.C772T:p.R258C",D,D,D,D,D,D
chr16,2817266,2817266,G,A,R010_S,SRRM2,Missense_Mutation,NM_016333,exon11,c.G6737A,p.R2246K,SNP,SNVindel,exonic,SRRM2,NA,nonsynonymous SNV,SRRM2:NM_016333:exon11:c.G6737A:p.R2246K,.,D,N,T,N,T
chr16,2871463,2871463,C,T,R010_S,PRSS21,Missense_Mutation,NM_006799,exon6,c.C802T,p.P268S,SNP,SNVindel,exonic,PRSS21,NA,nonsynonymous SNV,"PRSS21:NM_006799:exon6:c.C802T:p.P268S,PRSS21:NM_144956:exon6:c.C796T:p.P266S,PRSS21:NM_144957:exon6:c.C760T:p.P254S",D,.,D,D,D,D
chr16,2988439,2988439,G,A,R010_S,FLYWCH1,Missense_Mutation,NM_001308068,exon8,c.G2032A,p.A678T,SNP,SNVindel,exonic,FLYWCH1,NA,nonsynonymous SNV,"FLYWCH1:NM_001308068:exon8:c.G2032A:p.A678T,FLYWCH1:NM_020912:exon8:c.G2029A:p.A677T,FLYWCH1:NM_032296:exon8:c.G2029A:p.A677T",T,.,N,.,N,T
chr16,3021211,3021211,C,T,R010_S,PAQR4,Nonsense_Mutation,NM_001284513,exon2,c.C19T,p.Q7X,SNP,SNVindel,exonic,PAQR4,NA,stopgain,"PAQR4:NM_001284513:exon2:c.C19T:p.Q7X,PAQR4:NM_001324118:exon2:c.C220T:p.Q74X,PAQR4:NM_152341:exon2:c.C220T:p.Q74X",.,D,A,.,.,.
chr16,3108886,3108886,G,A,R010_S,MMP25,Silent,NM_022468,exon10,c.G1476A,p.K492K,SNP,SNVindel,exonic,MMP25,NA,synonymous SNV,MMP25:NM_022468:exon10:c.G1476A:p.K492K,NA,NA,NA,NA,NA,NA
chr16,3141553,3141553,C,T,R010_S,ZSCAN10,Missense_Mutation,NM_001282416,exon4,c.G364A,p.A122T,SNP,SNVindel,exonic,ZSCAN10,NA,nonsynonymous SNV,"ZSCAN10:NM_001282416:exon4:c.G364A:p.A122T,ZSCAN10:NM_001365272:exon4:c.G229A:p.A77T,ZSCAN10:NM_032805:exon5:c.G775A:p.A259T",T,N,N,T,N,T
chr16,3142570,3142570,G,A,R010_S,ZSCAN10,Missense_Mutation,NM_001282416,exon2,c.C226T,p.P76S,SNP,SNVindel,exonic,ZSCAN10,NA,nonsynonymous SNV,ZSCAN10:NM_001282416:exon2:c.C226T:p.P76S,.,.,N,T,.,T
chr16,3254324,3254324,C,T,R010_S,OR1F1,Silent,NM_012360,exon3,c.C78T,p.L26L,SNP,SNVindel,exonic,OR1F1,NA,synonymous SNV,"OR1F1:NM_012360:exon3:c.C78T:p.L26L,OR1F1:NM_001370639:exon4:c.C108T:p.L36L,OR1F1:NM_001370640:exon4:c.C108T:p.L36L,OR1F1:NM_001370641:exon5:c.C78T:p.L26L",NA,NA,NA,NA,NA,NA
chr16,3544567,3544567,G,A,R010_S,C16orf90,Silent,NM_001080524,exon2,c.C357T,p.A119A,SNP,SNVindel,exonic,C16orf90,NA,synonymous SNV,"C16orf90:NM_001080524:exon2:c.C357T:p.A119A,C16orf90:NM_001353382:exon2:c.C336T:p.A112A,C16orf90:NM_001353383:exon2:c.C96T:p.A32A,C16orf90:NM_001353384:exon2:c.C96T:p.A32A,C16orf90:NM_001353385:exon2:c.C96T:p.A32A",NA,NA,NA,NA,NA,NA
chr16,3640904,3640904,C,T,R010_S,SLX4,Missense_Mutation,NM_032444,exon12,c.G2735A,p.G912E,SNP,SNVindel,exonic,SLX4,NA,nonsynonymous SNV,SLX4:NM_032444:exon12:c.G2735A:p.G912E,T,N,N,T,N,T
chr16,4674994,4674994,G,A,R010_S,MGRN1,Silent,NM_001142289,exon1,c.G33A,p.G11G,SNP,SNVindel,exonic,MGRN1,NA,synonymous SNV,"MGRN1:NM_001142289:exon1:c.G33A:p.G11G,MGRN1:NM_001142290:exon1:c.G33A:p.G11G,MGRN1:NM_001142291:exon1:c.G33A:p.G11G,MGRN1:NM_015246:exon1:c.G33A:p.G11G",NA,NA,NA,NA,NA,NA
chr16,4715118,4715118,G,A,R010_S,MGRN1,Missense_Mutation,NM_001142289,exon7,c.G644A,p.G215D,SNP,SNVindel,exonic,MGRN1,NA,nonsynonymous SNV,"MGRN1:NM_001142289:exon7:c.G644A:p.G215D,MGRN1:NM_001142290:exon7:c.G644A:p.G215D,MGRN1:NM_001142291:exon7:c.G644A:p.G215D,MGRN1:NM_015246:exon7:c.G644A:p.G215D",T,D,D,T,D,T
chr16,4802803,4802803,G,A,R010_S,ZNF500,Silent,NM_001303450,exon6,c.C1017T,p.H339H,SNP,SNVindel,exonic,ZNF500,NA,synonymous SNV,"ZNF500:NM_001303450:exon6:c.C1017T:p.H339H,ZNF500:NM_021646:exon6:c.C1017T:p.H339H",NA,NA,NA,NA,NA,NA
chr16,4833725,4833725,C,T,R010_S,SEPTIN12,Silent,NM_001154458,exon5,c.G417A,p.R139R,SNP,SNVindel,exonic,SEPTIN12,NA,synonymous SNV,"SEPTIN12:NM_001154458:exon5:c.G417A:p.R139R,SEPTIN12:NM_144605:exon6:c.G555A:p.R185R",NA,NA,NA,NA,NA,NA
chr16,4882052,4882052,G,A,R010_S,GLYR1,Silent,NM_001308096,exon5,c.C465T,p.G155G,SNP,SNVindel,exonic,GLYR1,NA,synonymous SNV,"GLYR1:NM_001308096:exon5:c.C465T:p.G155G,GLYR1:NM_001324098:exon5:c.C465T:p.G155G,GLYR1:NM_032569:exon5:c.C465T:p.G155G",NA,NA,NA,NA,NA,NA
chr16,4934330,4934330,G,A,R010_S,PPL,Silent,NM_002705,exon22,c.C4326T,p.T1442T,SNP,SNVindel,exonic,PPL,NA,synonymous SNV,PPL:NM_002705:exon22:c.C4326T:p.T1442T,NA,NA,NA,NA,NA,NA
chr16,8722833,8722833,G,A,R010_S,METTL22,Missense_Mutation,NM_024109,exon3,c.G380A,p.R127K,SNP,SNVindel,exonic,METTL22,NA,nonsynonymous SNV,METTL22:NM_024109:exon3:c.G380A:p.R127K,T,D,D,T,N,T
chr16,8987856,8987856,C,T,R010_S,USP7,Silent,NM_001286457,exon31,c.G3260A,p.X1087X,SNP,SNVindel,exonic,USP7,NA,synonymous SNV,"USP7:NM_001286457:exon31:c.G3260A:p.X1087X,USP7:NM_001321858:exon31:c.G3134A:p.X1045X,USP7:NM_003470:exon31:c.G3308A:p.X1103X,USP7:NM_001286458:exon32:c.G3011A:p.X1004X",NA,NA,NA,NA,NA,NA
chr16,9858100,9858100,C,T,R010_S,GRIN2A,Missense_Mutation,NM_001134407,exon13,c.G3301A,p.V1101I,SNP,SNVindel,exonic,GRIN2A,NA,nonsynonymous SNV,"GRIN2A:NM_001134407:exon13:c.G3301A:p.V1101I,GRIN2A:NM_001134408:exon13:c.G3301A:p.V1101I,GRIN2A:NM_000833:exon14:c.G3301A:p.V1101I",T,D,D,T,N,T
chr16,11056360,11056360,G,A,R010_S,CLEC16A,Silent,NM_001243403,exon3,c.G258A,p.R86R,SNP,SNVindel,exonic,CLEC16A,NA,synonymous SNV,"CLEC16A:NM_001243403:exon3:c.G258A:p.R86R,CLEC16A:NM_015226:exon3:c.G258A:p.R86R",NA,NA,NA,NA,NA,NA
chr16,11554846,11554846,G,A,R010_S,LOC400499,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LOC400499,NA,unknown,UNKNOWN,.,U,N,T,.,T
chr16,11554864,11554864,C,T,R010_S,LOC400499,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LOC400499,NA,unknown,UNKNOWN,.,N,N,T,.,T
chr16,11555984,11555984,G,A,R010_S,LOC400499,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LOC400499,NA,unknown,UNKNOWN,.,U,N,T,.,T
chr16,11969753,11969753,C,T,R010_S,GSPT1,Missense_Mutation,NM_001130006,exon14,c.G1723A,p.E575K,SNP,SNVindel,exonic,GSPT1,NA,nonsynonymous SNV,"GSPT1:NM_001130006:exon14:c.G1723A:p.E575K,GSPT1:NM_001130007:exon14:c.G1312A:p.E438K,GSPT1:NM_002094:exon14:c.G1726A:p.E576K",T,U,D,T,N,T
chr16,15705459,15705459,C,T,R010_S,MARF1,Missense_Mutation,NM_001184998,exon18,c.G3607A,p.A1203T,SNP,SNVindel,exonic,MARF1,NA,nonsynonymous SNV,"MARF1:NM_001184998:exon18:c.G3607A:p.A1203T,MARF1:NM_001184999:exon18:c.G3598A:p.A1200T,MARF1:NM_014647:exon18:c.G3607A:p.A1203T",T,D,D,.,N,T
chr16,19033049,19033049,C,T,R010_S,TMC7,Missense_Mutation,NM_001160364,exon4,c.C229T,p.L77F,SNP,SNVindel,exonic,TMC7,NA,nonsynonymous SNV,"TMC7:NM_001160364:exon4:c.C229T:p.L77F,TMC7:NM_001300732:exon4:c.C559T:p.L187F,TMC7:NM_001324265:exon4:c.C559T:p.L187F,TMC7:NM_024847:exon4:c.C559T:p.L187F",D,D,D,T,D,T
chr16,19195257,19195257,G,A,R010_S,SYT17,Missense_Mutation,NM_001308157,exon5,c.G727A,p.V243I,SNP,SNVindel,exonic,SYT17,NA,nonsynonymous SNV,"SYT17:NM_001308157:exon5:c.G727A:p.V243I,SYT17:NM_001330509:exon5:c.G556A:p.V186I,SYT17:NM_016524:exon5:c.G739A:p.V247I",T,D,D,T,N,T
chr16,19455513,19455513,C,T,R010_S,TMC5,Missense_Mutation,NM_001105248,exon4,c.C899T,p.S300F,SNP,SNVindel,exonic,TMC5,NA,nonsynonymous SNV,"TMC5:NM_001105248:exon4:c.C899T:p.S300F,TMC5:NM_001105249:exon4:c.C899T:p.S300F,TMC5:NM_001261841:exon4:c.C899T:p.S300F,TMC5:NM_001308161:exon4:c.C899T:p.S300F",D,N,N,T,D,T
chr16,19468105,19468105,C,T,R010_S,TMC5,Missense_Mutation,NM_024780,exon1,c.C77T,p.S26F,SNP,SNVindel,exonic,TMC5,NA,nonsynonymous SNV,TMC5:NM_024780:exon1:c.C77T:p.S26F,D,.,N,T,N,T
chr16,19621737,19621737,G,A,R010_S,VPS35L,Missense_Mutation,NM_001365295,exon12,c.G64A,p.A22T,SNP,SNVindel,exonic,VPS35L,NA,nonsynonymous SNV,VPS35L:NM_001365295:exon12:c.G64A:p.A22T,NA,NA,NA,NA,NA,NA
chr16,19883423,19883423,C,T,R010_S,GPRC5B,Missense_Mutation,NM_001304771,exon2,c.G1138A,p.A380T,SNP,SNVindel,exonic,GPRC5B,NA,nonsynonymous SNV,"GPRC5B:NM_001304771:exon2:c.G1138A:p.A380T,GPRC5B:NM_016235:exon2:c.G745A:p.A249T",T,N,D,D,N,T
chr16,20334292,20334292,G,A,R010_S,GP2,Missense_Mutation,NM_001007242,exon3,c.C104T,p.T35I,SNP,SNVindel,exonic,GP2,NA,nonsynonymous SNV,"GP2:NM_001007242:exon3:c.C104T:p.T35I,GP2:NM_001007241:exon4:c.C113T:p.T38I,GP2:NM_001502:exon4:c.C545T:p.T182I,GP2:NM_001007240:exon5:c.C554T:p.T185I",D,.,N,D,D,D
chr16,20335262,20335262,G,A,R010_S,GP2,Silent,NM_001007240,exon3,c.C411T,p.A137A,SNP,SNVindel,exonic,GP2,NA,synonymous SNV,"GP2:NM_001007240:exon3:c.C411T:p.A137A,GP2:NM_001502:exon3:c.C411T:p.A137A",NA,NA,NA,NA,NA,NA
chr16,20346842,20346842,C,T,R010_S,UMOD,Missense_Mutation,NM_001008389,exon10,c.G1823A,p.G608D,SNP,SNVindel,exonic,UMOD,NA,nonsynonymous SNV,"UMOD:NM_001008389:exon10:c.G1823A:p.G608D,UMOD:NM_003361:exon10:c.G1823A:p.G608D,UMOD:NM_001278614:exon11:c.G1922A:p.G641D",T,N,N,T,N,T
chr16,20360329,20360329,G,A,R010_S,UMOD,Silent,NM_001008389,exon3,c.C294T,p.F98F,SNP,SNVindel,exonic,UMOD,NA,synonymous SNV,"UMOD:NM_001008389:exon3:c.C294T:p.F98F,UMOD:NM_003361:exon3:c.C294T:p.F98F,UMOD:NM_001278614:exon4:c.C393T:p.F131F",NA,NA,NA,NA,NA,NA
chr16,20833087,20833087,C,T,R010_S,REXO5,Missense_Mutation,NM_001144924,exon6,c.C479T,p.P160L,SNP,SNVindel,exonic,REXO5,NA,nonsynonymous SNV,"REXO5:NM_001144924:exon6:c.C479T:p.P160L,REXO5:NM_001199053:exon6:c.C479T:p.P160L,REXO5:NM_030941:exon6:c.C479T:p.P160L",T,N,N,T,N,T
chr16,20959906,20959906,G,A,R010_S,DNAH3,Silent,NM_001347886,exon57,c.C11104T,p.L3702L,SNP,SNVindel,exonic,DNAH3,NA,synonymous SNV,"DNAH3:NM_001347886:exon57:c.C11104T:p.L3702L,DNAH3:NM_017539:exon57:c.C11242T:p.L3748L",NA,NA,NA,NA,NA,NA
chr16,20976253,20976253,C,T,R010_S,DNAH3,Missense_Mutation,NM_001347886,exon53,c.G8815A,p.A2939T,SNP,SNVindel,exonic,DNAH3,NA,nonsynonymous SNV,"DNAH3:NM_001347886:exon53:c.G8815A:p.A2939T,DNAH3:NM_017539:exon53:c.G8953A:p.A2985T",D,N,D,T,D,D
chr16,20996414,20996414,G,A,R010_S,DNAH3,Silent,NM_001347886,exon48,c.C7512T,p.N2504N,SNP,SNVindel,exonic,DNAH3,NA,synonymous SNV,"DNAH3:NM_001347886:exon48:c.C7512T:p.N2504N,DNAH3:NM_017539:exon48:c.C7650T:p.N2550N",NA,NA,NA,NA,NA,NA
chr16,21212821,21212821,G,A,R010_S,ZP2,Silent,NM_001290104,exon15,c.C1536T,p.R512R,SNP,SNVindel,exonic,ZP2,NA,synonymous SNV,"ZP2:NM_001290104:exon15:c.C1536T:p.R512R,ZP2:NM_003460:exon15:c.C1563T:p.R521R",NA,NA,NA,NA,NA,NA
chr16,21279041,21279041,G,A,R010_S,CRYM,Silent,NM_001888,exon7,c.C507T,p.R169R,SNP,SNVindel,exonic,CRYM,NA,synonymous SNV,CRYM:NM_001888:exon7:c.C507T:p.R169R,NA,NA,NA,NA,NA,NA
chr16,21689861,21689861,C,T,R010_S,OTOA,Missense_Mutation,NM_144672,exon2,c.C26T,p.S9F,SNP,SNVindel,exonic,OTOA,NA,nonsynonymous SNV,OTOA:NM_144672:exon2:c.C26T:p.S9F,T,N,N,T,N,T
chr16,24574973,24574973,C,T,R010_S,RBBP6,Missense_Mutation,NM_006910,exon13,c.C1508T,p.P503L,SNP,SNVindel,exonic,RBBP6,NA,nonsynonymous SNV,"RBBP6:NM_006910:exon13:c.C1508T:p.P503L,RBBP6:NM_018703:exon13:c.C1508T:p.P503L",D,D,D,T,D,T
chr16,24788650,24788650,G,A,R010_S,TNRC6A,Missense_Mutation,NM_001330520,exon5,c.G560A,p.G187E,SNP,SNVindel,exonic,TNRC6A,NA,nonsynonymous SNV,"TNRC6A:NM_001330520:exon5:c.G560A:p.G187E,TNRC6A:NM_001351850:exon5:c.G587A:p.G196E,TNRC6A:NM_014494:exon5:c.G560A:p.G187E",T,D,D,T,N,T
chr16,27078556,27078556,G,A,R010_S,C16orf82,Silent,NM_001145545,exon1,c.G240A,p.E80E,SNP,SNVindel,exonic,C16orf82,NA,synonymous SNV,C16orf82:NM_001145545:exon1:c.G240A:p.E80E,NA,NA,NA,NA,NA,NA
chr16,27752203,27752203,G,A,R010_S,KIAA0556,Missense_Mutation,NM_015202,exon15,c.G2585A,p.G862D,SNP,SNVindel,exonic,KIAA0556,NA,nonsynonymous SNV,KIAA0556:NM_015202:exon15:c.G2585A:p.G862D,T,N,N,T,N,T
chr16,27761324,27761324,C,T,R010_S,KIAA0556,Missense_Mutation,NM_015202,exon16,c.C3043T,p.P1015S,SNP,SNVindel,exonic,KIAA0556,NA,nonsynonymous SNV,KIAA0556:NM_015202:exon16:c.C3043T:p.P1015S,D,D,D,T,D,T
chr16,28847505,28847505,C,T,R010_S,ATXN2L,Silent,NM_007245,exon22,c.C3147T,p.F1049F,SNP,SNVindel,exonic,ATXN2L,NA,synonymous SNV,ATXN2L:NM_007245:exon22:c.C3147T:p.F1049F,NA,NA,NA,NA,NA,NA
chr16,28962645,28962645,G,A,R010_S,NFATC2IP,Missense_Mutation,NM_032815,exon1,c.G313A,p.E105K,SNP,SNVindel,exonic,NFATC2IP,NA,nonsynonymous SNV,NFATC2IP:NM_032815:exon1:c.G313A:p.E105K,T,U,N,T,N,T
chr16,29916250,29916250,G,A,R010_S,ASPHD1,Missense_Mutation,NM_181718,exon2,c.G1027A,p.V343M,SNP,SNVindel,exonic,ASPHD1,NA,nonsynonymous SNV,ASPHD1:NM_181718:exon2:c.G1027A:p.V343M,D,D,D,T,N,T
chr16,29998939,29998939,C,T,R010_S,TAOK2,Missense_Mutation,NM_016151,exon16,c.C3346T,p.P1116S,SNP,SNVindel,exonic,TAOK2,NA,nonsynonymous SNV,"TAOK2:NM_016151:exon16:c.C3346T:p.P1116S,TAOK2:NM_001252043:exon17:c.C3007T:p.P1003S",D,N,D,D,N,D
chr16,30018269,30018269,A,G,R010_S,DOC2A,Silent,NM_001282068,exon8,c.T715C,p.L239L,SNP,SNVindel,exonic,DOC2A,NA,synonymous SNV,"DOC2A:NM_001282068:exon8:c.T715C:p.L239L,DOC2A:NM_003586:exon8:c.T715C:p.L239L,DOC2A:NM_001282062:exon9:c.T715C:p.L239L,DOC2A:NM_001282063:exon9:c.T715C:p.L239L",NA,NA,NA,NA,NA,NA
chr16,30018352,30018352,C,T,R010_S,DOC2A,Silent,NM_001282068,exon7,c.G714A,p.E238E,SNP,SNVindel,exonic,DOC2A,NA,synonymous SNV,"DOC2A:NM_001282068:exon7:c.G714A:p.E238E,DOC2A:NM_003586:exon7:c.G714A:p.E238E,DOC2A:NM_001282062:exon8:c.G714A:p.E238E,DOC2A:NM_001282063:exon8:c.G714A:p.E238E",NA,NA,NA,NA,NA,NA
chr16,30380934,30380934,G,A,R010_S,TBC1D10B,Nonsense_Mutation,NM_015527,exon1,c.C571T,p.Q191X,SNP,SNVindel,exonic,TBC1D10B,NA,stopgain,TBC1D10B:NM_015527:exon1:c.C571T:p.Q191X,.,.,A,.,.,.
chr16,30615615,30615615,C,T,R010_S,ZNF689,Silent,NM_138447,exon3,c.G1473A,p.G491G,SNP,SNVindel,exonic,ZNF689,NA,synonymous SNV,ZNF689:NM_138447:exon3:c.G1473A:p.G491G,NA,NA,NA,NA,NA,NA
chr16,30615783,30615783,G,A,R010_S,ZNF689,Silent,NM_138447,exon3,c.C1305T,p.S435S,SNP,SNVindel,exonic,ZNF689,NA,synonymous SNV,ZNF689:NM_138447:exon3:c.C1305T:p.S435S,NA,NA,NA,NA,NA,NA
chr16,30762563,30762563,A,G,R010_S,PHKG2,Missense_Mutation,NM_000294,exon3,c.A232G,p.T78A,SNP,SNVindel,exonic,PHKG2,NA,nonsynonymous SNV,"PHKG2:NM_000294:exon3:c.A232G:p.T78A,PHKG2:NM_001172432:exon3:c.A232G:p.T78A",T,N,D,T,N,T
chr16,30910740,30910740,C,T,R010_S,CTF1,Silent,NM_001142544,exon2,c.C27T,p.D9D,SNP,SNVindel,exonic,CTF1,NA,synonymous SNV,"CTF1:NM_001142544:exon2:c.C27T:p.D9D,CTF1:NM_001330:exon2:c.C30T:p.D10D",NA,NA,NA,NA,NA,NA
chr16,30976354,30976354,G,A,R010_S,SETD1A,Missense_Mutation,NM_014712,exon7,c.G1291A,p.E431K,SNP,SNVindel,exonic,SETD1A,NA,nonsynonymous SNV,SETD1A:NM_014712:exon7:c.G1291A:p.E431K,T,N,N,D,N,T
chr16,30992104,30992104,G,A,R010_S,SETD1A,Silent,NM_014712,exon16,c.G4626A,p.R1542R,SNP,SNVindel,exonic,SETD1A,NA,synonymous SNV,SETD1A:NM_014712:exon16:c.G4626A:p.R1542R,NA,NA,NA,NA,NA,NA
chr16,31092614,31092614,G,A,R010_S,ZNF646,Missense_Mutation,NM_014699,exon2,c.G4969A,p.E1657K,SNP,SNVindel,exonic,ZNF646,NA,nonsynonymous SNV,ZNF646:NM_014699:exon2:c.G4969A:p.E1657K,T,.,N,T,N,T
chr16,31141445,31141445,G,A,R010_S,KAT8,Silent,NM_032188,exon7,c.G879A,p.R293R,SNP,SNVindel,exonic,KAT8,NA,synonymous SNV,"KAT8:NM_032188:exon7:c.G879A:p.R293R,KAT8:NM_182958:exon7:c.G879A:p.R293R",NA,NA,NA,NA,NA,NA
chr16,31154120,31154120,G,A,R010_S,PRSS36,Missense_Mutation,NM_001258290,exon9,c.C1295T,p.P432L,SNP,SNVindel,exonic,PRSS36,NA,nonsynonymous SNV,"PRSS36:NM_001258290:exon9:c.C1295T:p.P432L,PRSS36:NM_001258291:exon9:c.C1295T:p.P432L,PRSS36:NM_173502:exon9:c.C1295T:p.P432L",D,.,N,T,D,T
chr16,31200468,31200468,C,T,R010_S,FUS,Missense_Mutation,NM_001170634,exon9,c.C854T,p.T285I,SNP,SNVindel,exonic,FUS,NA,nonsynonymous SNV,"FUS:NM_001170634:exon9:c.C854T:p.T285I,FUS:NM_001170937:exon9:c.C845T:p.T282I,FUS:NM_004960:exon9:c.C857T:p.T286I",D,D,D,T,D,T
chr16,31473967,31473967,G,A,R010_S,ARMC5,Missense_Mutation,NM_001105247,exon3,c.G1099A,p.D367N,SNP,SNVindel,exonic,ARMC5,NA,nonsynonymous SNV,"ARMC5:NM_001105247:exon3:c.G1099A:p.D367N,ARMC5:NM_024742:exon3:c.G1099A:p.D367N,ARMC5:NM_001301820:exon4:c.G1195A:p.D399N,ARMC5:NM_001288767:exon5:c.G1384A:p.D462N",T,D,D,T,N,T
chr16,46706344,46706344,G,A,R010_S,VPS35,Missense_Mutation,NM_018206,exon11,c.C1201T,p.L401F,SNP,SNVindel,exonic,VPS35,NA,nonsynonymous SNV,VPS35:NM_018206:exon11:c.C1201T:p.L401F,D,D,D,T,D,T
chr16,48120705,48120705,G,A,R010_S,ABCC12,Missense_Mutation,NM_033226,exon26,c.C3661T,p.H1221Y,SNP,SNVindel,exonic,ABCC12,NA,nonsynonymous SNV,ABCC12:NM_033226:exon26:c.C3661T:p.H1221Y,T,N,D,D,N,T
chr16,48237193,48237193,G,A,R010_S,ABCC11,Silent,NM_033151,exon13,c.C1824T,p.H608H,SNP,SNVindel,exonic,ABCC11,NA,synonymous SNV,"ABCC11:NM_033151:exon13:c.C1824T:p.H608H,ABCC11:NM_001370496:exon14:c.C1824T:p.H608H,ABCC11:NM_001370497:exon14:c.C1824T:p.H608H,ABCC11:NM_032583:exon15:c.C1824T:p.H608H,ABCC11:NM_145186:exon15:c.C1824T:p.H608H",NA,NA,NA,NA,NA,NA
chr16,49315283,49315283,C,T,R010_S,CBLN1,Missense_Mutation,NM_004352,exon1,c.G94A,p.G32S,SNP,SNVindel,exonic,CBLN1,NA,nonsynonymous SNV,CBLN1:NM_004352:exon1:c.G94A:p.G32S,D,D,D,D,N,D
chr16,50325650,50325650,C,T,R010_S,ADCY7,Missense_Mutation,NM_001114,exon4,c.C379T,p.P127S,SNP,SNVindel,exonic,ADCY7,NA,nonsynonymous SNV,"ADCY7:NM_001114:exon4:c.C379T:p.P127S,ADCY7:NM_001286057:exon4:c.C379T:p.P127S",T,U,D,T,D,T
chr16,50338388,50338388,C,T,R010_S,ADCY7,Missense_Mutation,NM_001114,exon11,c.C1486T,p.P496S,SNP,SNVindel,exonic,ADCY7,NA,nonsynonymous SNV,"ADCY7:NM_001114:exon11:c.C1486T:p.P496S,ADCY7:NM_001286057:exon11:c.C1486T:p.P496S",D,U,D,D,D,D
chr16,50811820,50811820,C,T,R010_S,CYLD,Missense_Mutation,NM_001042355,exon7,c.C1097T,p.S366F,SNP,SNVindel,exonic,CYLD,NA,nonsynonymous SNV,"CYLD:NM_001042355:exon7:c.C1097T:p.S366F,CYLD:NM_001042412:exon7:c.C1097T:p.S366F,CYLD:NM_015247:exon9:c.C1106T:p.S369F",D,N,D,D,N,D
chr16,50828231,50828231,G,A,R010_S,CYLD,Missense_Mutation,NM_001042355,exon17,c.G2569A,p.E857K,SNP,SNVindel,exonic,CYLD,NA,nonsynonymous SNV,"CYLD:NM_001042355:exon17:c.G2569A:p.E857K,CYLD:NM_001042412:exon17:c.G2569A:p.E857K,CYLD:NM_015247:exon19:c.G2578A:p.E860K",D,D,D,T,D,T
chr16,53859879,53859879,G,A,R010_S,FTO,Missense_Mutation,NM_001363897,exon2,c.G149A,p.G50D,SNP,SNVindel,exonic,FTO,NA,nonsynonymous SNV,"FTO:NM_001363897:exon2:c.G149A:p.G50D,FTO:NM_001080432:exon3:c.G227A:p.G76D,FTO:NM_001363891:exon3:c.G227A:p.G76D,FTO:NM_001363894:exon3:c.G227A:p.G76D,FTO:NM_001363896:exon3:c.G227A:p.G76D,FTO:NM_001363898:exon3:c.G227A:p.G76D,FTO:NM_001363899:exon3:c.G227A:p.G76D,FTO:NM_001363900:exon3:c.G227A:p.G76D,FTO:NM_001363901:exon3:c.G227A:p.G76D,FTO:NM_001363903:exon3:c.G227A:p.G76D,FTO:NM_001363988:exon3:c.G227A:p.G76D",D,D,D,T,D,D
chr16,55905591,55905591,G,A,R010_S,CES5A,Silent,NM_001143685,exon3,c.C363T,p.C121C,SNP,SNVindel,exonic,CES5A,NA,synonymous SNV,"CES5A:NM_001143685:exon3:c.C363T:p.C121C,CES5A:NM_145024:exon3:c.C363T:p.C121C,CES5A:NM_001190158:exon4:c.C450T:p.C150C",NA,NA,NA,NA,NA,NA
chr16,56544806,56544806,C,T,R010_S,BBS2,Missense_Mutation,NM_031885,exon4,c.G499A,p.A167T,SNP,SNVindel,exonic,BBS2,NA,nonsynonymous SNV,BBS2:NM_031885:exon4:c.G499A:p.A167T,T,D,D,D,N,T
chr16,56918088,56918088,C,T,R010_S,SLC12A3,Silent,NM_000339,exon14,c.C1797T,p.L599L,SNP,SNVindel,exonic,SLC12A3,NA,synonymous SNV,"SLC12A3:NM_000339:exon14:c.C1797T:p.L599L,SLC12A3:NM_001126107:exon14:c.C1794T:p.L598L,SLC12A3:NM_001126108:exon14:c.C1797T:p.L599L",NA,NA,NA,NA,NA,NA
chr16,57103754,57103754,C,T,R010_S,NLRC5,Silent,NM_001330552,exon36,c.C4419T,p.T1473T,SNP,SNVindel,exonic,NLRC5,NA,synonymous SNV,"NLRC5:NM_001330552:exon36:c.C4419T:p.T1473T,NLRC5:NM_032206:exon36:c.C4506T:p.T1502T",NA,NA,NA,NA,NA,NA
chr16,57492255,57492255,C,T,R010_S,COQ9,Missense_Mutation,NM_020312,exon6,c.C704T,p.S235F,SNP,SNVindel,exonic,COQ9,NA,nonsynonymous SNV,COQ9:NM_020312:exon6:c.C704T:p.S235F,D,D,D,.,D,D
chr16,57786697,57786697,C,T,R010_S,KATNB1,Missense_Mutation,NM_005886,exon10,c.C712T,p.L238F,SNP,SNVindel,exonic,KATNB1,NA,nonsynonymous SNV,KATNB1:NM_005886:exon10:c.C712T:p.L238F,T,D,D,T,N,T
chr16,57918277,57918277,G,A,R010_S,CNGB1,Missense_Mutation,NM_001286130,exon33,c.C3529T,p.P1177S,SNP,SNVindel,exonic,CNGB1,NA,nonsynonymous SNV,"CNGB1:NM_001286130:exon33:c.C3529T:p.P1177S,CNGB1:NM_001297:exon33:c.C3547T:p.P1183S",T,N,N,D,N,T
chr16,57950072,57950072,C,T,R010_S,CNGB1,Silent,NM_001286130,exon22,c.G2160A,p.K720K,SNP,SNVindel,exonic,CNGB1,NA,synonymous SNV,"CNGB1:NM_001286130:exon22:c.G2160A:p.K720K,CNGB1:NM_001297:exon22:c.G2178A:p.K726K",NA,NA,NA,NA,NA,NA
chr16,58036451,58036451,C,T,R010_S,USB1,Missense_Mutation,NM_001195302,exon2,c.C167T,p.T56I,SNP,SNVindel,exonic,USB1,NA,nonsynonymous SNV,"USB1:NM_001195302:exon2:c.C167T:p.T56I,USB1:NM_001204911:exon2:c.C167T:p.T56I,USB1:NM_001330568:exon2:c.C14T:p.T5I,USB1:NM_001330569:exon2:c.C167T:p.T56I,USB1:NM_024598:exon2:c.C167T:p.T56I",D,N,N,T,N,T
chr16,58712673,58712673,C,T,R010_S,SLC38A7,Silent,NM_001308384,exon3,c.G396A,p.E132E,SNP,SNVindel,exonic,SLC38A7,NA,synonymous SNV,"SLC38A7:NM_001308384:exon3:c.G396A:p.E132E,SLC38A7:NM_001369609:exon3:c.G396A:p.E132E,SLC38A7:NM_001369611:exon3:c.G396A:p.E132E,SLC38A7:NM_001369608:exon4:c.G396A:p.E132E,SLC38A7:NM_001369610:exon4:c.G396A:p.E132E,SLC38A7:NM_018231:exon4:c.G396A:p.E132E",NA,NA,NA,NA,NA,NA
chr16,66514646,66514646,C,T,R010_S,BEAN1,Missense_Mutation,NM_001136106,exon4,c.C271T,p.P91S,SNP,SNVindel,exonic,BEAN1,NA,nonsynonymous SNV,"BEAN1:NM_001136106:exon4:c.C271T:p.P91S,BEAN1:NM_001178020:exon5:c.C598T:p.P200S",T,N,N,.,N,T
chr16,66956110,66956110,C,T,R010_S,RRAD,Missense_Mutation,NM_001128850,exon5,c.G796A,p.A266T,SNP,SNVindel,exonic,RRAD,NA,nonsynonymous SNV,"RRAD:NM_001128850:exon5:c.G796A:p.A266T,RRAD:NM_004165:exon5:c.G796A:p.A266T",T,D,D,T,N,T
chr16,67168262,67168262,C,T,R010_S,C16orf70,Missense_Mutation,NM_001320543,exon8,c.C469T,p.P157S,SNP,SNVindel,exonic,C16orf70,NA,nonsynonymous SNV,"C16orf70:NM_001320543:exon8:c.C469T:p.P157S,C16orf70:NM_025187:exon8:c.C553T:p.P185S,C16orf70:NM_001320540:exon9:c.C553T:p.P185S,C16orf70:NM_001320541:exon9:c.C553T:p.P185S,C16orf70:NM_001320542:exon9:c.C553T:p.P185S",T,D,D,.,D,T
chr16,67188819,67188819,G,A,R010_S,TRADD,Silent,NM_001323552,exon5,c.C672T,p.R224R,SNP,SNVindel,exonic,TRADD,NA,synonymous SNV,"TRADD:NM_001323552:exon5:c.C672T:p.R224R,TRADD:NM_003789:exon5:c.C672T:p.R224R",NA,NA,NA,NA,NA,NA
chr16,67189458,67189458,C,T,R010_S,TRADD,Missense_Mutation,NM_001323552,exon3,c.G251A,p.G84D,SNP,SNVindel,exonic,TRADD,NA,nonsynonymous SNV,"TRADD:NM_001323552:exon3:c.G251A:p.G84D,TRADD:NM_003789:exon3:c.G251A:p.G84D",T,N,N,.,N,T
chr16,67221190,67221190,C,T,R010_S,EXOC3L1,Silent,NM_178516,exon5,c.G978A,p.G326G,SNP,SNVindel,exonic,EXOC3L1,NA,synonymous SNV,EXOC3L1:NM_178516:exon5:c.G978A:p.G326G,NA,NA,NA,NA,NA,NA
chr16,67291005,67291005,G,A,R010_S,SLC9A5,Missense_Mutation,NM_001323972,exon6,c.G1021A,p.V341I,SNP,SNVindel,exonic,SLC9A5,NA,nonsynonymous SNV,"SLC9A5:NM_001323972:exon6:c.G1021A:p.V341I,SLC9A5:NM_001323971:exon7:c.G1324A:p.V442I,SLC9A5:NM_001323973:exon7:c.G1324A:p.V442I,SLC9A5:NM_001323974:exon7:c.G439A:p.V147I,SLC9A5:NM_001323975:exon7:c.G439A:p.V147I,SLC9A5:NM_004594:exon7:c.G1324A:p.V442I",D,D,D,T,N,T
chr16,67333283,67333283,G,A,R010_S,KCTD19,Silent,NM_001100915,exon6,c.C969T,p.V323V,SNP,SNVindel,exonic,KCTD19,NA,synonymous SNV,KCTD19:NM_001100915:exon6:c.C969T:p.V323V,NA,NA,NA,NA,NA,NA
chr16,67470644,67470644,C,T,R010_S,HSD11B2,Missense_Mutation,NM_000196,exon5,c.C956T,p.T319I,SNP,SNVindel,exonic,HSD11B2,NA,nonsynonymous SNV,HSD11B2:NM_000196:exon5:c.C956T:p.T319I,D,D,N,D,D,T
chr16,67576482,67576482,C,T,R010_S,RIPOR1,Missense_Mutation,NM_001193522,exon13,c.C1805T,p.T602I,SNP,SNVindel,exonic,RIPOR1,NA,nonsynonymous SNV,"RIPOR1:NM_001193522:exon13:c.C1805T:p.T602I,RIPOR1:NM_001193523:exon13:c.C1853T:p.T618I,RIPOR1:NM_001193524:exon13:c.C1835T:p.T612I,RIPOR1:NM_024519:exon13:c.C1793T:p.T598I",T,N,N,T,N,T
chr16,67681252,67681252,C,T,R010_S,CARMIL2,Silent,NM_001013838,exon10,c.C738T,p.H246H,SNP,SNVindel,exonic,CARMIL2,NA,synonymous SNV,"CARMIL2:NM_001013838:exon10:c.C738T:p.H246H,CARMIL2:NM_001317026:exon10:c.C738T:p.H246H",NA,NA,NA,NA,NA,NA
chr16,67841091,67841091,C,T,R010_S,TSNAXIP1,Missense_Mutation,NM_001351158,exon1,c.C109T,p.R37C,SNP,SNVindel,exonic,TSNAXIP1,NA,nonsynonymous SNV,TSNAXIP1:NM_001351158:exon1:c.C109T:p.R37C,NA,NA,NA,NA,NA,NA
chr16,67864433,67864433,G,A,R010_S,CENPT,Missense_Mutation,NM_025082,exon11,c.C722T,p.T241I,SNP,SNVindel,exonic,CENPT,NA,nonsynonymous SNV,CENPT:NM_025082:exon11:c.C722T:p.T241I,D,D,D,T,D,T
chr16,67913539,67913539,C,T,R010_S,EDC4,Silent,NM_014329,exon15,c.C1683T,p.A561A,SNP,SNVindel,exonic,EDC4,NA,synonymous SNV,EDC4:NM_014329:exon15:c.C1683T:p.A561A,NA,NA,NA,NA,NA,NA
chr16,67943495,67943495,G,A,R010_S,PSKH1,Nonsense_Mutation,NM_006742,exon2,c.G843A,p.W281X,SNP,SNVindel,exonic,PSKH1,NA,stopgain,PSKH1:NM_006742:exon2:c.G843A:p.W281X,.,D,A,.,.,.
chr16,67961440,67961440,G,A,R010_S,PSKH1,Silent,NM_006742,exon3,c.G1170A,p.Q390Q,SNP,SNVindel,exonic,PSKH1,NA,synonymous SNV,PSKH1:NM_006742:exon3:c.G1170A:p.Q390Q,NA,NA,NA,NA,NA,NA
chr16,67980385,67980385,C,T,R010_S,SLC12A4,Missense_Mutation,NM_001145962,exon17,c.G2399A,p.G800D,SNP,SNVindel,exonic,SLC12A4,NA,nonsynonymous SNV,"SLC12A4:NM_001145962:exon17:c.G2399A:p.G800D,SLC12A4:NM_001145961:exon18:c.G2393A:p.G798D,SLC12A4:NM_001145963:exon18:c.G2375A:p.G792D,SLC12A4:NM_001145964:exon18:c.G2300A:p.G767D,SLC12A4:NM_005072:exon18:c.G2393A:p.G798D",T,D,D,D,N,D
chr16,68344396,68344396,C,T,R010_S,SLC7A6OS,Missense_Mutation,NM_032178,exon2,c.G313A,p.V105M,SNP,SNVindel,exonic,SLC7A6OS,NA,nonsynonymous SNV,SLC7A6OS:NM_032178:exon2:c.G313A:p.V105M,D,D,D,T,N,T
chr16,68716327,68716327,C,T,R010_S,CDH3,Silent,NM_001317196,exon8,c.C954T,p.D318D,SNP,SNVindel,exonic,CDH3,NA,synonymous SNV,"CDH3:NM_001317196:exon8:c.C954T:p.D318D,CDH3:NM_001317195:exon9:c.C1119T:p.D373D,CDH3:NM_001793:exon9:c.C1119T:p.D373D",NA,NA,NA,NA,NA,NA
chr16,69496348,69496348,G,A,R010_S,CYB5B,Nonsense_Mutation,NM_030579,exon5,c.G378A,p.W126X,SNP,SNVindel,exonic,CYB5B,NA,stopgain,CYB5B:NM_030579:exon5:c.G378A:p.W126X,T,.,D,D,N,T
chr16,69687293,69687293,G,A,R010_S,NFAT5,Missense_Mutation,NM_001367709,exon4,c.G295A,p.V99M,SNP,SNVindel,exonic,NFAT5,NA,nonsynonymous SNV,"NFAT5:NM_001367709:exon4:c.G295A:p.V99M,NFAT5:NM_006599:exon4:c.G913A:p.V305M,NFAT5:NM_001113178:exon5:c.G967A:p.V323M,NFAT5:NM_138713:exon5:c.G967A:p.V323M,NFAT5:NM_173214:exon5:c.G685A:p.V229M,NFAT5:NM_173215:exon5:c.G685A:p.V229M,NFAT5:NM_138714:exon6:c.G685A:p.V229M",D,D,D,T,D,T
chr16,69922052,69922052,C,T,R010_S,WWP2,Missense_Mutation,NM_001270453,exon5,c.C466T,p.L156F,SNP,SNVindel,exonic,WWP2,NA,nonsynonymous SNV,"WWP2:NM_001270453:exon5:c.C466T:p.L156F,WWP2:NM_001270454:exon8:c.C814T:p.L272F,WWP2:NM_001270455:exon8:c.C814T:p.L272F,WWP2:NM_007014:exon9:c.C814T:p.L272F",T,N,D,T,N,T
chr16,70285350,70285350,C,T,R010_S,EXOSC6,Missense_Mutation,NM_058219,exon1,c.G454A,p.E152K,SNP,SNVindel,exonic,EXOSC6,NA,nonsynonymous SNV,EXOSC6:NM_058219:exon1:c.G454A:p.E152K,D,U,D,T,D,T
chr16,70286667,70286667,G,A,R010_S,AARS,Missense_Mutation,NM_001605,exon21,c.C2864T,p.A955V,SNP,SNVindel,exonic,AARS,NA,nonsynonymous SNV,AARS:NM_001605:exon21:c.C2864T:p.A955V,T,D,D,T,D,T
chr16,70298927,70298927,G,A,R010_S,AARS,Missense_Mutation,NM_001605,exon11,c.C1426T,p.R476W,SNP,SNVindel,exonic,AARS,NA,nonsynonymous SNV,AARS:NM_001605:exon11:c.C1426T:p.R476W,D,N,N,T,D,T
chr16,70505088,70505088,C,T,R010_S,FCSK,Missense_Mutation,NM_145059,exon13,c.C1174T,p.P392S,SNP,SNVindel,exonic,FCSK,NA,nonsynonymous SNV,FCSK:NM_145059:exon13:c.C1174T:p.P392S,T,D,D,T,N,T
chr16,70505155,70505155,G,A,R010_S,FCSK,Missense_Mutation,NM_145059,exon13,c.G1241A,p.G414D,SNP,SNVindel,exonic,FCSK,NA,nonsynonymous SNV,FCSK:NM_145059:exon13:c.G1241A:p.G414D,T,N,D,T,N,T
chr16,70512484,70512484,C,T,R010_S,FCSK,Missense_Mutation,NM_145059,exon22,c.C2860T,p.P954S,SNP,SNVindel,exonic,FCSK,NA,nonsynonymous SNV,FCSK:NM_145059:exon22:c.C2860T:p.P954S,T,D,D,D,D,D
chr16,70513228,70513228,C,T,R010_S,FCSK,Silent,NM_145059,exon23,c.C3075T,p.G1025G,SNP,SNVindel,exonic,FCSK,NA,synonymous SNV,FCSK:NM_145059:exon23:c.C3075T:p.G1025G,NA,NA,NA,NA,NA,NA
chr16,71317797,71317797,G,A,R010_S,CMTR2,Missense_Mutation,NM_001324378,exon2,c.C2027T,p.S676F,SNP,SNVindel,exonic,CMTR2,NA,nonsynonymous SNV,"CMTR2:NM_001324378:exon2:c.C2027T:p.S676F,CMTR2:NM_001324379:exon2:c.C2027T:p.S676F,CMTR2:NM_001099642:exon3:c.C2027T:p.S676F,CMTR2:NM_001324374:exon3:c.C2027T:p.S676F,CMTR2:NM_001324377:exon3:c.C2027T:p.S676F,CMTR2:NM_018348:exon3:c.C2027T:p.S676F",D,N,D,T,N,T
chr16,71783821,71783821,C,T,R010_S,AP1G1,Silent,NM_001128,exon15,c.G1473A,p.Q491Q,SNP,SNVindel,exonic,AP1G1,NA,synonymous SNV,"AP1G1:NM_001128:exon15:c.G1473A:p.Q491Q,AP1G1:NM_001030007:exon16:c.G1482A:p.Q494Q",NA,NA,NA,NA,NA,NA
chr16,72020339,72020339,C,T,R010_S,PKD1L3,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PKD1L3,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr16,72094756,72094756,G,A,R010_S,HP,Silent,NM_001126102,exon5,c.G1011A,p.Q337Q,SNP,SNVindel,exonic,HP,NA,synonymous SNV,"HP:NM_001126102:exon5:c.G1011A:p.Q337Q,HP:NM_001318138:exon5:c.G1011A:p.Q337Q,HP:NM_005143:exon7:c.G1188A:p.Q396Q",NA,NA,NA,NA,NA,NA
chr16,72166714,72166714,G,A,R010_S,PMFBP1,Silent,NM_031293,exon10,c.C1380T,p.A460A,SNP,SNVindel,exonic,PMFBP1,NA,synonymous SNV,"PMFBP1:NM_031293:exon10:c.C1380T:p.A460A,PMFBP1:NM_001160213:exon11:c.C945T:p.A315A",NA,NA,NA,NA,NA,NA
chr16,72184564,72184564,C,T,R010_S,PMFBP1,Silent,NM_031293,exon5,c.G579A,p.E193E,SNP,SNVindel,exonic,PMFBP1,NA,synonymous SNV,"PMFBP1:NM_031293:exon5:c.G579A:p.E193E,PMFBP1:NM_001160213:exon6:c.G144A:p.E48E",NA,NA,NA,NA,NA,NA
chr16,72829703,72829703,G,A,R010_S,ZFHX3,Missense_Mutation,NM_001164766,exon8,c.C4136T,p.A1379V,SNP,SNVindel,exonic,ZFHX3,NA,nonsynonymous SNV,"ZFHX3:NM_001164766:exon8:c.C4136T:p.A1379V,ZFHX3:NM_006885:exon9:c.C6878T:p.A2293V",D,D,D,D,D,D
chr16,76532564,76532564,C,T,R010_S,CNTNAP4,Silent,NM_001322180,exon14,c.C1951T,p.L651L,SNP,SNVindel,exonic,CNTNAP4,NA,synonymous SNV,"CNTNAP4:NM_001322180:exon14:c.C1951T:p.L651L,CNTNAP4:NM_001322191:exon14:c.C1411T:p.L471L,CNTNAP4:NM_138994:exon14:c.C2119T:p.L707L,CNTNAP4:NM_001322187:exon16:c.C922T:p.L308L,CNTNAP4:NM_001322189:exon16:c.C2074T:p.L692L",NA,NA,NA,NA,NA,NA
chr16,81077197,81077197,G,A,R010_S,ATMIN,Missense_Mutation,NM_001300728,exon4,c.G626A,p.S209N,SNP,SNVindel,exonic,ATMIN,NA,nonsynonymous SNV,"ATMIN:NM_001300728:exon4:c.G626A:p.S209N,ATMIN:NM_015251:exon4:c.G1094A:p.S365N",D,N,N,T,N,T
chr16,81161444,81161444,G,A,R010_S,PKD1L2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PKD1L2,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr16,81211507,81211507,G,A,R010_S,PKD1L2,Missense_Mutation,NM_001278423,exon3,c.C287T,p.A96V,SNP,SNVindel,exonic,PKD1L2,NA,nonsynonymous SNV,"PKD1L2:NM_001278423:exon3:c.C287T:p.A96V,PKD1L2:NM_001076780:exon14:c.C2342T:p.A781V",.,N,N,T,N,T
chr16,81934229,81934229,C,T,R010_S,PLCG2,Silent,NM_002661,exon14,c.C1206T,p.I402I,SNP,SNVindel,exonic,PLCG2,NA,synonymous SNV,PLCG2:NM_002661:exon14:c.C1206T:p.I402I,NA,NA,NA,NA,NA,NA
chr16,84092977,84092977,G,A,R010_S,MBTPS1,Missense_Mutation,NM_003791,exon21,c.C2761T,p.P921S,SNP,SNVindel,exonic,MBTPS1,NA,nonsynonymous SNV,MBTPS1:NM_003791:exon21:c.C2761T:p.P921S,T,D,D,T,N,T
chr16,84100218,84100218,C,T,R010_S,MBTPS1,Silent,NM_003791,exon17,c.G2229A,p.R743R,SNP,SNVindel,exonic,MBTPS1,NA,synonymous SNV,MBTPS1:NM_003791:exon17:c.G2229A:p.R743R,NA,NA,NA,NA,NA,NA
chr16,84203741,84203741,G,A,R010_S,DNAAF1,Missense_Mutation,NM_001318756,exon4,c.G599A,p.G200E,SNP,SNVindel,exonic,DNAAF1,NA,nonsynonymous SNV,"DNAAF1:NM_001318756:exon4:c.G599A:p.G200E,DNAAF1:NM_178452:exon8:c.G1307A:p.G436E",T,N,N,T,N,T
chr16,85667649,85667649,C,T,R010_S,GSE1,Missense_Mutation,NM_014615,exon2,c.C137T,p.T46I,SNP,SNVindel,exonic,GSE1,NA,nonsynonymous SNV,GSE1:NM_014615:exon2:c.C137T:p.T46I,D,U,D,T,N,T
chr16,86545023,86545023,C,T,R010_S,FOXF1,Missense_Mutation,NM_001451,exon1,c.C848T,p.S283F,SNP,SNVindel,exonic,FOXF1,NA,nonsynonymous SNV,FOXF1:NM_001451:exon1:c.C848T:p.S283F,D,D,D,D,N,D
chr16,86613257,86613257,G,A,R010_S,FOXL1,Missense_Mutation,NM_005250,exon1,c.G928A,p.A310T,SNP,SNVindel,exonic,FOXL1,NA,nonsynonymous SNV,FOXL1:NM_005250:exon1:c.G928A:p.A310T,D,U,N,D,N,D
chr16,87339392,87339392,C,T,R010_S,C16orf95,Missense_Mutation,NM_001195124,exon6,c.G634A,p.A212T,SNP,SNVindel,exonic,C16orf95,NA,nonsynonymous SNV,C16orf95:NM_001195124:exon6:c.G634A:p.A212T,T,.,.,.,N,.
chr16,87350830,87350830,G,A,R010_S,C16orf95,Missense_Mutation,NM_001195124,exon1,c.C19T,p.P7S,SNP,SNVindel,exonic,C16orf95,NA,nonsynonymous SNV,"C16orf95:NM_001195124:exon1:c.C19T:p.P7S,C16orf95:NM_001195125:exon1:c.C19T:p.P7S",D,.,.,.,N,T
chr16,87723911,87723911,G,A,R010_S,JPH3,Missense_Mutation,NM_020655,exon4,c.G1945A,p.G649S,SNP,SNVindel,exonic,JPH3,NA,nonsynonymous SNV,JPH3:NM_020655:exon4:c.G1945A:p.G649S,T,N,N,T,N,T
chr16,87743137,87743137,G,A,R010_S,KLHDC4,Missense_Mutation,NM_001184854,exon8,c.C1010T,p.T337I,SNP,SNVindel,exonic,KLHDC4,NA,nonsynonymous SNV,"KLHDC4:NM_001184854:exon8:c.C1010T:p.T337I,KLHDC4:NM_001184856:exon9:c.C1088T:p.T363I,KLHDC4:NM_001351938:exon9:c.C638T:p.T213I,KLHDC4:NM_001351937:exon10:c.C638T:p.T213I,KLHDC4:NM_017566:exon10:c.C1181T:p.T394I",D,D,D,T,N,T
chr16,88061164,88061164,G,A,R010_S,BANP,Missense_Mutation,NM_001173540,exon7,c.G872A,p.R291H,SNP,SNVindel,exonic,BANP,NA,nonsynonymous SNV,"BANP:NM_001173540:exon7:c.G872A:p.R291H,BANP:NM_001173541:exon7:c.G854A:p.R285H,BANP:NM_017869:exon7:c.G854A:p.R285H,BANP:NM_079837:exon7:c.G854A:p.R285H,BANP:NM_001173539:exon8:c.G971A:p.R324H,BANP:NM_001173542:exon8:c.G971A:p.R324H,BANP:NM_001173543:exon8:c.G947A:p.R316H",D,D,D,T,D,T
chr16,88494824,88494824,G,A,R010_S,ZNF469,Missense_Mutation,NM_001367624,exon1,c.G946A,p.E316K,SNP,SNVindel,exonic,ZNF469,NA,nonsynonymous SNV,ZNF469:NM_001367624:exon1:c.G946A:p.E316K,T,.,N,T,N,T
chr16,88495031,88495031,C,T,R010_S,ZNF469,Missense_Mutation,NM_001367624,exon1,c.C1153T,p.P385S,SNP,SNVindel,exonic,ZNF469,NA,nonsynonymous SNV,ZNF469:NM_001367624:exon1:c.C1153T:p.P385S,T,.,N,T,N,T
chr16,88495609,88495609,C,T,R010_S,ZNF469,Silent,NM_001367624,exon1,c.C1731T,p.S577S,SNP,SNVindel,exonic,ZNF469,NA,synonymous SNV,ZNF469:NM_001367624:exon1:c.C1731T:p.S577S,NA,NA,NA,NA,NA,NA
chr16,88495874,88495874,G,A,R010_S,ZNF469,Missense_Mutation,NM_001367624,exon1,c.G1996A,p.A666T,SNP,SNVindel,exonic,ZNF469,NA,nonsynonymous SNV,ZNF469:NM_001367624:exon1:c.G1996A:p.A666T,T,.,N,T,N,T
chr16,88496066,88496066,C,T,R010_S,ZNF469,Silent,NM_001367624,exon1,c.C2188T,p.L730L,SNP,SNVindel,exonic,ZNF469,NA,synonymous SNV,ZNF469:NM_001367624:exon1:c.C2188T:p.L730L,NA,NA,NA,NA,NA,NA
chr16,88502497,88502497,G,A,R010_S,ZNF469,Silent,NM_001367624,exon1,c.G8619A,p.R2873R,SNP,SNVindel,exonic,ZNF469,NA,synonymous SNV,ZNF469:NM_001367624:exon1:c.G8619A:p.R2873R,NA,NA,NA,NA,NA,NA
chr16,88778612,88778612,G,A,R010_S,CTU2,Missense_Mutation,NM_001318507,exon6,c.G487A,p.E163K,SNP,SNVindel,exonic,CTU2,NA,nonsynonymous SNV,CTU2:NM_001318507:exon6:c.G487A:p.E163K,T,.,N,T,N,.
chr16,89611104,89611104,C,T,R010_S,SPG7,Missense_Mutation,NM_001363850,exon10,c.C1373T,p.A458V,SNP,SNVindel,exonic,SPG7,NA,nonsynonymous SNV,"SPG7:NM_001363850:exon10:c.C1373T:p.A458V,SPG7:NM_003119:exon10:c.C1373T:p.A458V",T,D,D,D,D,D
chr16,90128480,90128480,G,A,R010_S,PRDM7,Missense_Mutation,NM_001098173,exon7,c.C731T,p.P244L,SNP,SNVindel,exonic,PRDM7,NA,nonsynonymous SNV,PRDM7:NM_001098173:exon7:c.C731T:p.P244L,D,.,D,T,D,T
chr17,704306,704306,G,A,R010_S,NXN,Silent,NM_001205319,exon8,c.C867T,p.I289I,SNP,SNVindel,exonic,NXN,NA,synonymous SNV,"NXN:NM_001205319:exon8:c.C867T:p.I289I,NXN:NM_022463:exon8:c.C1191T:p.I397I",NA,NA,NA,NA,NA,NA
chr17,953337,953337,C,T,R010_S,ABR,Missense_Mutation,NM_001282149,exon11,c.G1090A,p.D364N,SNP,SNVindel,exonic,ABR,NA,nonsynonymous SNV,"ABR:NM_001282149:exon11:c.G1090A:p.D364N,ABR:NM_001092:exon15:c.G1633A:p.D545N,ABR:NM_001159746:exon16:c.G1606A:p.D536N,ABR:NM_001322840:exon16:c.G1606A:p.D536N,ABR:NM_001322841:exon16:c.G2521A:p.D841N,ABR:NM_021962:exon16:c.G1744A:p.D582N",T,D,D,T,N,T
chr17,1264482,1264482,G,A,R010_S,YWHAE,Missense_Mutation,NM_006761,exon4,c.C482T,p.T161I,SNP,SNVindel,exonic,YWHAE,NA,nonsynonymous SNV,YWHAE:NM_006761:exon4:c.C482T:p.T161I,D,U,D,T,N,T
chr17,1565394,1565394,C,T,R010_S,PRPF8,Silent,NM_006445,exon25,c.G3828A,p.E1276E,SNP,SNVindel,exonic,PRPF8,NA,synonymous SNV,PRPF8:NM_006445:exon25:c.G3828A:p.E1276E,NA,NA,NA,NA,NA,NA
chr17,1576831,1576831,G,A,R010_S,PRPF8,Silent,NM_006445,exon23,c.C3477T,p.N1159N,SNP,SNVindel,exonic,PRPF8,NA,synonymous SNV,PRPF8:NM_006445:exon23:c.C3477T:p.N1159N,NA,NA,NA,NA,NA,NA
chr17,1629800,1629800,C,T,R010_S,WDR81,Missense_Mutation,NM_001163809,exon1,c.C1547T,p.A516V,SNP,SNVindel,exonic,WDR81,NA,nonsynonymous SNV,WDR81:NM_001163809:exon1:c.C1547T:p.A516V,T,.,D,T,N,T
chr17,1634182,1634182,C,T,R010_S,WDR81,Silent,NM_001163673,exon3,c.C300T,p.A100A,SNP,SNVindel,exonic,WDR81,NA,synonymous SNV,"WDR81:NM_001163673:exon3:c.C300T:p.A100A,WDR81:NM_001163809:exon3:c.C3909T:p.A1303A,WDR81:NM_001163811:exon3:c.C228T:p.A76A,WDR81:NM_152348:exon4:c.C756T:p.A252A",NA,NA,NA,NA,NA,NA
chr17,1648308,1648308,C,T,R010_S,SERPINF2,Missense_Mutation,NM_000934,exon2,c.C19T,p.L7F,SNP,SNVindel,exonic,SERPINF2,NA,nonsynonymous SNV,"SERPINF2:NM_000934:exon2:c.C19T:p.L7F,SERPINF2:NM_001165920:exon2:c.C19T:p.L7F,SERPINF2:NM_001165921:exon2:c.C19T:p.L7F",D,N,N,D,N,T
chr17,1650764,1650764,G,A,R010_S,SERPINF2,Missense_Mutation,NM_001165921,exon6,c.G481A,p.E161K,SNP,SNVindel,exonic,SERPINF2,NA,nonsynonymous SNV,"SERPINF2:NM_001165921:exon6:c.G481A:p.E161K,SERPINF2:NM_000934:exon7:c.G673A:p.E225K,SERPINF2:NM_001165920:exon7:c.G673A:p.E225K",T,N,N,D,N,T
chr17,1704050,1704050,G,A,R010_S,SMYD4,Missense_Mutation,NM_052928,exon5,c.C638T,p.A213V,SNP,SNVindel,exonic,SMYD4,NA,nonsynonymous SNV,SMYD4:NM_052928:exon5:c.C638T:p.A213V,T,N,N,T,N,T
chr17,1960771,1960771,C,T,R010_S,HIC1,Missense_Mutation,NM_001098202,exon2,c.C844T,p.P282S,SNP,SNVindel,exonic,HIC1,NA,nonsynonymous SNV,"HIC1:NM_001098202:exon2:c.C844T:p.P282S,HIC1:NM_006497:exon2:c.C787T:p.P263S",T,.,D,T,N,T
chr17,2203419,2203419,C,T,R010_S,SMG6,Missense_Mutation,NM_017575,exon2,c.G628A,p.G210R,SNP,SNVindel,exonic,SMG6,NA,nonsynonymous SNV,SMG6:NM_017575:exon2:c.G628A:p.G210R,T,N,N,T,N,T
chr17,2265046,2265046,G,A,R010_S,SGSM2,Silent,NM_001098509,exon3,c.G249A,p.G83G,SNP,SNVindel,exonic,SGSM2,NA,synonymous SNV,"SGSM2:NM_001098509:exon3:c.G249A:p.G83G,SGSM2:NM_001346700:exon3:c.G249A:p.G83G,SGSM2:NM_014853:exon3:c.G249A:p.G83G",NA,NA,NA,NA,NA,NA
chr17,2282805,2282805,G,A,R010_S,SGSM2,Silent,NM_001098509,exon23,c.G3012A,p.E1004E,SNP,SNVindel,exonic,SGSM2,NA,synonymous SNV,"SGSM2:NM_001098509:exon23:c.G3012A:p.E1004E,SGSM2:NM_014853:exon24:c.G3147A:p.E1049E",NA,NA,NA,NA,NA,NA
chr17,2604814,2604814,G,A,R010_S,CLUH,Missense_Mutation,NM_001366661,exon6,c.C745T,p.P249S,SNP,SNVindel,exonic,CLUH,NA,nonsynonymous SNV,"CLUH:NM_001366661:exon6:c.C745T:p.P249S,CLUH:NM_001366662:exon6:c.C631T:p.P211S,CLUH:NM_015229:exon6:c.C745T:p.P249S",T,D,D,T,N,T
chr17,3119361,3119361,G,A,R010_S,OR1A1,Nonsense_Mutation,NM_014565,exon1,c.G447A,p.W149X,SNP,SNVindel,exonic,OR1A1,NA,stopgain,OR1A1:NM_014565:exon1:c.G447A:p.W149X,.,D,D,.,.,.
chr17,3572614,3572614,C,T,R010_S,EMC6,Silent,NM_001014764,exon2,c.C174T,p.A58A,SNP,SNVindel,exonic,EMC6,NA,synonymous SNV,"EMC6:NM_001014764:exon2:c.C174T:p.A58A,EMC6:NM_031298:exon2:c.C174T:p.A58A",NA,NA,NA,NA,NA,NA
chr17,3572629,3572629,C,T,R010_S,EMC6,Silent,NM_001014764,exon2,c.C189T,p.S63S,SNP,SNVindel,exonic,EMC6,NA,synonymous SNV,"EMC6:NM_001014764:exon2:c.C189T:p.S63S,EMC6:NM_031298:exon2:c.C189T:p.S63S",NA,NA,NA,NA,NA,NA
chr17,3629295,3629295,C,T,R010_S,HASPIN,Missense_Mutation,NM_031965,exon1,c.C2066T,p.T689I,SNP,SNVindel,exonic,HASPIN,NA,nonsynonymous SNV,HASPIN:NM_031965:exon1:c.C2066T:p.T689I,D,D,D,T,D,T
chr17,3719459,3719459,C,T,R010_S,NCBP3,Silent,NM_001114118,exon11,c.G1416A,p.E472E,SNP,SNVindel,exonic,NCBP3,NA,synonymous SNV,NCBP3:NM_001114118:exon11:c.G1416A:p.E472E,NA,NA,NA,NA,NA,NA
chr17,3967743,3967743,C,T,R010_S,ZZEF1,Missense_Mutation,NM_015113,exon29,c.G4630A,p.A1544T,SNP,SNVindel,exonic,ZZEF1,NA,nonsynonymous SNV,ZZEF1:NM_015113:exon29:c.G4630A:p.A1544T,T,N,N,T,N,T
chr17,4111258,4111258,G,A,R010_S,ANKFY1,Silent,NM_001257999,exon6,c.C828T,p.V276V,SNP,SNVindel,exonic,ANKFY1,NA,synonymous SNV,"ANKFY1:NM_001257999:exon6:c.C828T:p.V276V,ANKFY1:NM_001330063:exon6:c.C702T:p.V234V,ANKFY1:NM_016376:exon6:c.C702T:p.V234V",NA,NA,NA,NA,NA,NA
chr17,4436651,4436651,C,T,R010_S,SPNS2,Missense_Mutation,NM_001124758,exon8,c.C1202T,p.A401V,SNP,SNVindel,exonic,SPNS2,NA,nonsynonymous SNV,SPNS2:NM_001124758:exon8:c.C1202T:p.A401V,D,D,D,T,D,T
chr17,4685868,4685868,C,T,R010_S,TM4SF5,Missense_Mutation,NM_003963,exon3,c.C329T,p.A110V,SNP,SNVindel,exonic,TM4SF5,NA,nonsynonymous SNV,TM4SF5:NM_003963:exon3:c.C329T:p.A110V,T,N,N,T,N,T
chr17,4837794,4837794,G,A,R010_S,GP1BA,Missense_Mutation,NM_000173,exon2,c.G1895A,p.S632N,SNP,SNVindel,exonic,GP1BA,NA,nonsynonymous SNV,GP1BA:NM_000173:exon2:c.G1895A:p.S632N,D,N,N,T,N,T
chr17,4925799,4925799,G,A,R010_S,KIF1C,Missense_Mutation,NM_006612,exon22,c.G2423A,p.G808D,SNP,SNVindel,exonic,KIF1C,NA,nonsynonymous SNV,KIF1C:NM_006612:exon22:c.G2423A:p.G808D,D,.,D,D,N,D
chr17,4995805,4995805,C,T,R010_S,ZFP3,Missense_Mutation,NM_153018,exon2,c.C1006T,p.P336S,SNP,SNVindel,exonic,ZFP3,NA,nonsynonymous SNV,ZFP3:NM_153018:exon2:c.C1006T:p.P336S,D,N,D,T,D,T
chr17,5418381,5418381,G,A,R010_S,NLRP1,Missense_Mutation,NM_033007,exon15,c.C3893T,p.P1298L,SNP,SNVindel,exonic,NLRP1,NA,nonsynonymous SNV,"NLRP1:NM_033007:exon15:c.C3893T:p.P1298L,NLRP1:NM_014922:exon16:c.C3983T:p.P1328L,NLRP1:NM_033006:exon16:c.C4025T:p.P1342L,NLRP1:NM_033004:exon17:c.C4115T:p.P1372L",D,N,N,T,N,T
chr17,6328808,6328808,G,C,R010_S,AIPL1,Missense_Mutation,NM_001033054,exon5,c.C938G,p.P313R,SNP,SNVindel,exonic,AIPL1,NA,nonsynonymous SNV,"AIPL1:NM_001033054:exon5:c.C938G:p.P313R,AIPL1:NM_001033055:exon5:c.C947G:p.P316R,AIPL1:NM_001285399:exon6:c.C1091G:p.P364R,AIPL1:NM_001285400:exon6:c.C1061G:p.P354R,AIPL1:NM_001285401:exon6:c.C1055G:p.P352R,AIPL1:NM_001285402:exon6:c.C1010G:p.P337R,AIPL1:NM_014336:exon6:c.C1127G:p.P376R",T,U,N,D,N,T
chr17,6594196,6594196,C,T,R010_S,SLC13A5,Missense_Mutation,NM_001284510,exon9,c.G1210A,p.A404T,SNP,SNVindel,exonic,SLC13A5,NA,nonsynonymous SNV,"SLC13A5:NM_001284510:exon9:c.G1210A:p.A404T,SLC13A5:NM_001143838:exon10:c.G1339A:p.A447T,SLC13A5:NM_001284509:exon10:c.G1288A:p.A430T,SLC13A5:NM_177550:exon10:c.G1339A:p.A447T",T,D,D,T,D,T
chr17,6683463,6683463,G,A,R010_S,FBXO39,Silent,NM_153230,exon2,c.G276A,p.L92L,SNP,SNVindel,exonic,FBXO39,NA,synonymous SNV,FBXO39:NM_153230:exon2:c.G276A:p.L92L,NA,NA,NA,NA,NA,NA
chr17,6684006,6684006,G,A,R010_S,FBXO39,Nonsense_Mutation,NM_153230,exon2,c.G819A,p.W273X,SNP,SNVindel,exonic,FBXO39,NA,stopgain,FBXO39:NM_153230:exon2:c.G819A:p.W273X,.,D,A,.,.,.
chr17,6900174,6900174,G,A,R010_S,ALOX12,Silent,NM_000697,exon2,c.G165A,p.E55E,SNP,SNVindel,exonic,ALOX12,NA,synonymous SNV,ALOX12:NM_000697:exon2:c.G165A:p.E55E,NA,NA,NA,NA,NA,NA
chr17,7497600,7497600,C,T,R010_S,FXR2,Missense_Mutation,NM_004860,exon10,c.G976A,p.V326I,SNP,SNVindel,exonic,FXR2,NA,nonsynonymous SNV,FXR2:NM_004860:exon10:c.G976A:p.V326I,T,D,D,T,N,T
chr17,7534175,7534175,G,A,R010_S,SHBG,Silent,NM_001040,exon3,c.G381A,p.G127G,SNP,SNVindel,exonic,SHBG,NA,synonymous SNV,"SHBG:NM_001040:exon3:c.G381A:p.G127G,SHBG:NM_001146279:exon3:c.G381A:p.G127G,SHBG:NM_001146280:exon3:c.G381A:p.G127G,SHBG:NM_001146281:exon3:c.G381A:p.G127G,SHBG:NM_001289113:exon3:c.G207A:p.G69G,SHBG:NM_001289114:exon3:c.G207A:p.G69G,SHBG:NM_001289115:exon3:c.G207A:p.G69G",NA,NA,NA,NA,NA,NA
chr17,7637810,7637810,G,A,R010_S,DNAH2,Silent,NM_001303270,exon7,c.G762A,p.R254R,SNP,SNVindel,exonic,DNAH2,NA,synonymous SNV,"DNAH2:NM_001303270:exon7:c.G762A:p.R254R,DNAH2:NM_020877:exon7:c.G762A:p.R254R",NA,NA,NA,NA,NA,NA
chr17,7669708,7669708,C,T,R010_S,DNAH2,Missense_Mutation,NM_020877,exon22,c.C3584T,p.A1195V,SNP,SNVindel,exonic,DNAH2,NA,nonsynonymous SNV,DNAH2:NM_020877:exon22:c.C3584T:p.A1195V,T,N,D,T,N,T
chr17,7710585,7710585,G,A,R010_S,DNAH2,Missense_Mutation,NM_020877,exon62,c.G9560A,p.G3187D,SNP,SNVindel,exonic,DNAH2,NA,nonsynonymous SNV,DNAH2:NM_020877:exon62:c.G9560A:p.G3187D,D,D,D,T,D,D
chr17,7751337,7751337,G,A,R010_S,KDM6B,Silent,NM_001080424,exon11,c.G1731A,p.L577L,SNP,SNVindel,exonic,KDM6B,NA,synonymous SNV,"KDM6B:NM_001080424:exon11:c.G1731A:p.L577L,KDM6B:NM_001348716:exon11:c.G1731A:p.L577L",NA,NA,NA,NA,NA,NA
chr17,7832662,7832662,C,T,R010_S,KCNAB3,Missense_Mutation,NM_004732,exon1,c.G92A,p.G31D,SNP,SNVindel,exonic,KCNAB3,NA,nonsynonymous SNV,KCNAB3:NM_004732:exon1:c.G92A:p.G31D,T,N,D,T,N,T
chr17,7945786,7945786,C,T,R010_S,ALOX15B,Silent,NM_001039130,exon4,c.C549T,p.N183N,SNP,SNVindel,exonic,ALOX15B,NA,synonymous SNV,"ALOX15B:NM_001039130:exon4:c.C549T:p.N183N,ALOX15B:NM_001039131:exon4:c.C549T:p.N183N,ALOX15B:NM_001141:exon4:c.C549T:p.N183N",NA,NA,NA,NA,NA,NA
chr17,7976160,7976160,G,A,R010_S,ALOX12B,Missense_Mutation,NM_001139,exon15,c.C2035T,p.R679C,SNP,SNVindel,exonic,ALOX12B,NA,nonsynonymous SNV,ALOX12B:NM_001139:exon15:c.C2035T:p.R679C,D,D,D,D,D,D
chr17,8417119,8417119,C,T,R010_S,MYH10,Nonsense_Mutation,NM_005964,exon20,c.G2505A,p.W835X,SNP,SNVindel,exonic,MYH10,NA,stopgain,"MYH10:NM_005964:exon20:c.G2505A:p.W835X,MYH10:NM_001256095:exon21:c.G2532A:p.W844X,MYH10:NM_001256012:exon22:c.G2598A:p.W866X",.,D,A,.,.,.
chr17,8526462,8526462,G,A,R010_S,MYH10,Silent,NM_001256012,exon2,c.C103T,p.L35L,SNP,SNVindel,exonic,MYH10,NA,synonymous SNV,"MYH10:NM_001256012:exon2:c.C103T:p.L35L,MYH10:NM_001256095:exon2:c.C103T:p.L35L,MYH10:NM_005964:exon2:c.C103T:p.L35L",NA,NA,NA,NA,NA,NA
chr17,8701920,8701920,C,T,R010_S,MFSD6L,Silent,NM_152599,exon1,c.G519A,p.A173A,SNP,SNVindel,exonic,MFSD6L,NA,synonymous SNV,MFSD6L:NM_152599:exon1:c.G519A:p.A173A,NA,NA,NA,NA,NA,NA
chr17,8790914,8790914,C,T,R010_S,PIK3R5,Missense_Mutation,NM_001251852,exon10,c.G545A,p.S182N,SNP,SNVindel,exonic,PIK3R5,NA,nonsynonymous SNV,"PIK3R5:NM_001251852:exon10:c.G545A:p.S182N,PIK3R5:NM_001251853:exon10:c.G545A:p.S182N,PIK3R5:NM_001251855:exon10:c.G545A:p.S182N,PIK3R5:NM_001142633:exon11:c.G1703A:p.S568N,PIK3R5:NM_001251851:exon11:c.G545A:p.S182N,PIK3R5:NM_014308:exon11:c.G1703A:p.S568N",T,N,N,T,N,T
chr17,9490151,9490151,G,A,R010_S,CFAP52,Missense_Mutation,NM_001080556,exon2,c.G203A,p.S68N,SNP,SNVindel,exonic,CFAP52,NA,nonsynonymous SNV,"CFAP52:NM_001080556:exon2:c.G203A:p.S68N,CFAP52:NM_145054:exon3:c.G407A:p.S136N",T,D,D,T,N,T
chr17,9604711,9604711,C,T,R010_S,USP43,Silent,NM_001267576,exon12,c.C1705T,p.L569L,SNP,SNVindel,exonic,USP43,NA,synonymous SNV,"USP43:NM_001267576:exon12:c.C1705T:p.L569L,USP43:NM_153210:exon12:c.C1705T:p.L569L",NA,NA,NA,NA,NA,NA
chr17,10369732,10369732,G,A,R010_S,MYH4,Missense_Mutation,NM_017533,exon4,c.C206T,p.T69I,SNP,SNVindel,exonic,MYH4,NA,nonsynonymous SNV,MYH4:NM_017533:exon4:c.C206T:p.T69I,D,U,D,D,D,D
chr17,10408534,10408534,G,A,R010_S,MYH1,Missense_Mutation,NM_005963,exon21,c.C2381T,p.A794V,SNP,SNVindel,exonic,MYH1,NA,nonsynonymous SNV,MYH1:NM_005963:exon21:c.C2381T:p.A794V,D,U,D,T,D,D
chr17,10432676,10432676,C,T,R010_S,MYH2,Silent,NM_001100112,exon25,c.G3240A,p.Q1080Q,SNP,SNVindel,exonic,MYH2,NA,synonymous SNV,"MYH2:NM_001100112:exon25:c.G3240A:p.Q1080Q,MYH2:NM_017534:exon25:c.G3240A:p.Q1080Q",NA,NA,NA,NA,NA,NA
chr17,10435142,10435142,C,T,R010_S,MYH2,Nonsense_Mutation,NM_001100112,exon22,c.G2505A,p.W835X,SNP,SNVindel,exonic,MYH2,NA,stopgain,"MYH2:NM_001100112:exon22:c.G2505A:p.W835X,MYH2:NM_017534:exon22:c.G2505A:p.W835X",.,U,A,.,.,.
chr17,10448771,10448771,G,A,R010_S,MYH2,Missense_Mutation,NM_001100112,exon5,c.C397T,p.P133S,SNP,SNVindel,exonic,MYH2,NA,nonsynonymous SNV,"MYH2:NM_001100112:exon5:c.C397T:p.P133S,MYH2:NM_017534:exon5:c.C397T:p.P133S",D,U,D,T,D,D
chr17,12666676,12666676,G,T,R010_S,MYOCD,Silent,NM_153604,exon13,c.G2532T,p.G844G,SNP,SNVindel,exonic,MYOCD,NA,synonymous SNV,"MYOCD:NM_153604:exon13:c.G2532T:p.G844G,MYOCD:NM_001146312:exon14:c.G2676T:p.G892G",NA,NA,NA,NA,NA,NA
chr17,13972926,13972926,G,A,R010_S,COX10,Missense_Mutation,NM_001303,exon1,c.G4A,p.A2T,SNP,SNVindel,exonic,COX10,NA,nonsynonymous SNV,COX10:NM_001303:exon1:c.G4A:p.A2T,T,N,D,T,N,T
chr17,15878308,15878308,G,A,R010_S,ADORA2B,Silent,NM_000676,exon2,c.G651A,p.E217E,SNP,SNVindel,exonic,ADORA2B,NA,synonymous SNV,ADORA2B:NM_000676:exon2:c.G651A:p.E217E,NA,NA,NA,NA,NA,NA
chr17,15942958,15942958,G,A,R010_S,NCOR1,Silent,NM_001190440,exon43,c.C6435T,p.S2145S,SNP,SNVindel,exonic,NCOR1,NA,synonymous SNV,"NCOR1:NM_001190440:exon43:c.C6435T:p.S2145S,NCOR1:NM_006311:exon44:c.C6744T:p.S2248S",NA,NA,NA,NA,NA,NA
chr17,16467086,16467086,C,T,R010_S,ZNF287,Silent,NM_001346170,exon3,c.G411A,p.E137E,SNP,SNVindel,exonic,ZNF287,NA,synonymous SNV,"ZNF287:NM_001346170:exon3:c.G411A:p.E137E,ZNF287:NM_001346167:exon4:c.G555A:p.E185E,ZNF287:NM_001346169:exon4:c.G555A:p.E185E,ZNF287:NM_001346171:exon4:c.G48A:p.E16E,ZNF287:NM_020653:exon4:c.G555A:p.E185E,ZNF287:NM_001346168:exon5:c.G555A:p.E185E",NA,NA,NA,NA,NA,NA
chr17,16550690,16550690,G,A,R010_S,ZNF624,Missense_Mutation,NM_020787,exon3,c.C106T,p.P36S,SNP,SNVindel,exonic,ZNF624,NA,nonsynonymous SNV,ZNF624:NM_020787:exon3:c.C106T:p.P36S,T,.,N,T,N,T
chr17,17078692,17078692,C,T,R010_S,MPRIP,Missense_Mutation,NM_015134,exon19,c.C2675T,p.P892L,SNP,SNVindel,exonic,MPRIP,NA,nonsynonymous SNV,"MPRIP:NM_015134:exon19:c.C2675T:p.P892L,MPRIP:NM_201274:exon19:c.C2675T:p.P892L,MPRIP:NM_001364716:exon20:c.C6932T:p.P2311L",D,D,D,T,D,T
chr17,17106242,17106242,C,T,R010_S,PLD6,Missense_Mutation,NM_178836,exon2,c.G598A,p.E200K,SNP,SNVindel,exonic,PLD6,NA,nonsynonymous SNV,PLD6:NM_178836:exon2:c.G598A:p.E200K,T,N,D,T,N,T
chr17,17122401,17122401,G,A,R010_S,FLCN,Missense_Mutation,NM_144997,exon9,c.C994T,p.L332F,SNP,SNVindel,exonic,FLCN,NA,nonsynonymous SNV,"FLCN:NM_144997:exon9:c.C994T:p.L332F,FLCN:NM_001353230:exon10:c.C994T:p.L332F,FLCN:NM_001353231:exon10:c.C994T:p.L332F,FLCN:NM_001353229:exon11:c.C1048T:p.L350F",T,N,N,D,N,T
chr17,17696706,17696706,G,A,R010_S,RAI1,Silent,NM_030665,exon3,c.G444A,p.K148K,SNP,SNVindel,exonic,RAI1,NA,synonymous SNV,RAI1:NM_030665:exon3:c.G444A:p.K148K,NA,NA,NA,NA,NA,NA
chr17,17700614,17700614,G,A,R010_S,RAI1,Missense_Mutation,NM_030665,exon3,c.G4352A,p.G1451D,SNP,SNVindel,exonic,RAI1,NA,nonsynonymous SNV,RAI1:NM_030665:exon3:c.G4352A:p.G1451D,D,D,D,T,N,T
chr17,17701592,17701592,C,T,R010_S,RAI1,Missense_Mutation,NM_030665,exon3,c.C5330T,p.S1777F,SNP,SNVindel,exonic,RAI1,NA,nonsynonymous SNV,RAI1:NM_030665:exon3:c.C5330T:p.S1777F,T,N,D,T,N,T
chr17,18075475,18075475,C,T,R010_S,MYO15A,Silent,NM_016239,exon63,c.C10221T,p.L3407L,SNP,SNVindel,exonic,MYO15A,NA,synonymous SNV,MYO15A:NM_016239:exon63:c.C10221T:p.L3407L,.,.,D,D,.,D
chr17,18133341,18133341,G,A,R010_S,LLGL1,Silent,NM_004140,exon2,c.G168A,p.G56G,SNP,SNVindel,exonic,LLGL1,NA,synonymous SNV,LLGL1:NM_004140:exon2:c.G168A:p.G56G,NA,NA,NA,NA,NA,NA
chr17,18137138,18137138,G,A,R010_S,LLGL1,Missense_Mutation,NM_004140,exon5,c.G439A,p.A147T,SNP,SNVindel,exonic,LLGL1,NA,nonsynonymous SNV,LLGL1:NM_004140:exon5:c.G439A:p.A147T,T,N,N,T,N,T
chr17,18219219,18219219,G,A,R010_S,SMCR8,Missense_Mutation,NM_144775,exon1,c.G116A,p.S39N,SNP,SNVindel,exonic,SMCR8,NA,nonsynonymous SNV,SMCR8:NM_144775:exon1:c.G116A:p.S39N,T,N,N,T,N,T
chr17,18219425,18219425,C,T,R010_S,SMCR8,Missense_Mutation,NM_144775,exon1,c.C322T,p.P108S,SNP,SNVindel,exonic,SMCR8,NA,nonsynonymous SNV,SMCR8:NM_144775:exon1:c.C322T:p.P108S,T,D,D,T,D,T
chr17,18220110,18220110,C,T,R010_S,SMCR8,Missense_Mutation,NM_144775,exon1,c.C1007T,p.A336V,SNP,SNVindel,exonic,SMCR8,NA,nonsynonymous SNV,SMCR8:NM_144775:exon1:c.C1007T:p.A336V,T,N,D,T,N,T
chr17,18814489,18814489,G,A,R010_S,PRPSAP2,Missense_Mutation,NM_001243936,exon7,c.G538A,p.D180N,SNP,SNVindel,exonic,PRPSAP2,NA,nonsynonymous SNV,"PRPSAP2:NM_001243936:exon7:c.G538A:p.D180N,PRPSAP2:NM_001243941:exon7:c.G400A:p.D134N,PRPSAP2:NM_001353103:exon7:c.G400A:p.D134N,PRPSAP2:NM_001353104:exon7:c.G400A:p.D134N,PRPSAP2:NM_001243940:exon8:c.G658A:p.D220N,PRPSAP2:NM_001243942:exon8:c.G400A:p.D134N,PRPSAP2:NM_001353101:exon8:c.G658A:p.D220N,PRPSAP2:NM_001353105:exon8:c.G658A:p.D220N,PRPSAP2:NM_001353107:exon8:c.G658A:p.D220N,PRPSAP2:NM_001353096:exon9:c.G523A:p.D175N,PRPSAP2:NM_001353097:exon9:c.G523A:p.D175N,PRPSAP2:NM_001353098:exon9:c.G820A:p.D274N,PRPSAP2:NM_001353099:exon9:c.G523A:p.D175N,PRPSAP2:NM_001353100:exon9:c.G400A:p.D134N,PRPSAP2:NM_001353102:exon9:c.G658A:p.D220N,PRPSAP2:NM_001353106:exon9:c.G658A:p.D220N,PRPSAP2:NM_002767:exon9:c.G658A:p.D220N",D,D,D,T,D,D
chr17,19555909,19555909,G,A,R010_S,ALDH3A2,Silent,NM_000382,exon3,c.G435A,p.K145K,SNP,SNVindel,exonic,ALDH3A2,NA,synonymous SNV,"ALDH3A2:NM_000382:exon3:c.G435A:p.K145K,ALDH3A2:NM_001031806:exon3:c.G435A:p.K145K,ALDH3A2:NM_001369136:exon4:c.G435A:p.K145K,ALDH3A2:NM_001369137:exon4:c.G435A:p.K145K,ALDH3A2:NM_001369138:exon4:c.G435A:p.K145K,ALDH3A2:NM_001369139:exon4:c.G435A:p.K145K,ALDH3A2:NM_001369146:exon4:c.G435A:p.K145K",NA,NA,NA,NA,NA,NA
chr17,19835278,19835278,C,T,R010_S,AKAP10,Missense_Mutation,NM_007202,exon10,c.G1481A,p.G494D,SNP,SNVindel,exonic,AKAP10,NA,nonsynonymous SNV,AKAP10:NM_007202:exon10:c.G1481A:p.G494D,D,D,D,T,N,T
chr17,21319602,21319602,C,T,R010_S,KCNJ12,Silent,NM_001194958,exon3,c.C948T,p.Y316Y,SNP,SNVindel,exonic,KCNJ12;KCNJ18,NA,synonymous SNV,"KCNJ18:NM_001194958:exon3:c.C948T:p.Y316Y,KCNJ12:NM_021012:exon3:c.C948T:p.Y316Y",NA,NA,NA,NA,NA,NA
chr17,25932627,25932627,C,T,R010_S,KSR1,Silent,NM_001367810,exon13,c.C1782T,p.G594G,SNP,SNVindel,exonic,KSR1,NA,synonymous SNV,"KSR1:NM_001367810:exon13:c.C1782T:p.G594G,KSR1:NM_014238:exon15:c.C1437T:p.G479G",NA,NA,NA,NA,NA,NA
chr17,26100252,26100252,G,A,R010_S,NOS2,Silent,NM_000625,exon13,c.C1494T,p.T498T,SNP,SNVindel,exonic,NOS2,NA,synonymous SNV,NOS2:NM_000625:exon13:c.C1494T:p.T498T,NA,NA,NA,NA,NA,NA
chr17,26856128,26856128,G,A,R010_S,FOXN1,Missense_Mutation,NM_003593,exon4,c.G716A,p.G239D,SNP,SNVindel,exonic,FOXN1,NA,nonsynonymous SNV,"FOXN1:NM_003593:exon4:c.G716A:p.G239D,FOXN1:NM_001369369:exon5:c.G716A:p.G239D",D,D,D,D,N,D
chr17,26881998,26881998,C,T,R010_S,PIGS,Nonsense_Mutation,NM_033198,exon11,c.G1263A,p.W421X,SNP,SNVindel,exonic,PIGS,NA,stopgain,PIGS:NM_033198:exon11:c.G1263A:p.W421X,.,D,A,.,.,.
chr17,26960168,26960168,G,A,R010_S,KIAA0100,Silent,NM_001363826,exon19,c.C3168T,p.C1056C,SNP,SNVindel,exonic,KIAA0100,NA,synonymous SNV,"KIAA0100:NM_001363826:exon19:c.C3168T:p.C1056C,KIAA0100:NM_001363827:exon19:c.C2592T:p.C864C,KIAA0100:NM_001363828:exon19:c.C1572T:p.C524C,KIAA0100:NM_001321560:exon20:c.C3597T:p.C1199C,KIAA0100:NM_014680:exon20:c.C3597T:p.C1199C,KIAA0100:NM_001363829:exon21:c.C1572T:p.C524C",NA,NA,NA,NA,NA,NA
chr17,26976187,26976187,G,A,R010_S,SDF2,Silent,NM_006923,exon3,c.C456T,p.H152H,SNP,SNVindel,exonic,SDF2,NA,synonymous SNV,SDF2:NM_006923:exon3:c.C456T:p.H152H,NA,NA,NA,NA,NA,NA
chr17,27064431,27064431,G,A,R010_S,NEK8,Silent,NM_178170,exon5,c.G726A,p.E242E,SNP,SNVindel,exonic,NEK8,NA,synonymous SNV,NEK8:NM_178170:exon5:c.G726A:p.E242E,NA,NA,NA,NA,NA,NA
chr17,27228012,27228012,G,A,R010_S,DHRS13,Silent,NM_144683,exon4,c.C678T,p.H226H,SNP,SNVindel,exonic,DHRS13,NA,synonymous SNV,DHRS13:NM_144683:exon4:c.C678T:p.H226H,NA,NA,NA,NA,NA,NA
chr17,27844543,27844543,C,T,R010_S,TAOK1,Nonsense_Mutation,NM_020791,exon16,c.C1777T,p.Q593X,SNP,SNVindel,exonic,TAOK1,NA,stopgain,TAOK1:NM_020791:exon16:c.C1777T:p.Q593X,.,D,A,.,.,.
chr17,28380454,28380454,C,T,R010_S,EFCAB5,Silent,NM_001145053,exon10,c.C1314T,p.N438N,SNP,SNVindel,exonic,EFCAB5,NA,synonymous SNV,"EFCAB5:NM_001145053:exon10:c.C1314T:p.N438N,EFCAB5:NM_198529:exon10:c.C1482T:p.N494N",NA,NA,NA,NA,NA,NA
chr17,28616482,28616482,G,A,R010_S,BLMH,Missense_Mutation,NM_000386,exon3,c.C230T,p.S77F,SNP,SNVindel,exonic,BLMH,NA,nonsynonymous SNV,BLMH:NM_000386:exon3:c.C230T:p.S77F,D,D,D,T,D,T
chr17,28776594,28776594,G,A,R010_S,CPD,Missense_Mutation,NM_001199775,exon13,c.G2156A,p.R719H,SNP,SNVindel,exonic,CPD,NA,nonsynonymous SNV,"CPD:NM_001199775:exon13:c.G2156A:p.R719H,CPD:NM_001304:exon13:c.G2897A:p.R966H",D,D,D,T,N,T
chr17,28819712,28819712,G,A,R010_S,GOSR1,Silent,NM_001007024,exon6,c.G261A,p.G87G,SNP,SNVindel,exonic,GOSR1,NA,synonymous SNV,"GOSR1:NM_001007024:exon6:c.G261A:p.G87G,GOSR1:NM_001007025:exon6:c.G450A:p.G150G,GOSR1:NM_004871:exon6:c.G456A:p.G152G",NA,NA,NA,NA,NA,NA
chr17,30801836,30801836,G,A,R010_S,PSMD11,Silent,NM_001270482,exon8,c.G843A,p.G281G,SNP,SNVindel,exonic,PSMD11,NA,synonymous SNV,"PSMD11:NM_001270482:exon8:c.G843A:p.G281G,PSMD11:NM_002815:exon8:c.G843A:p.G281G",NA,NA,NA,NA,NA,NA
chr17,33591658,33591658,C,T,R010_S,SLFN5,Missense_Mutation,NM_144975,exon4,c.C1595T,p.S532F,SNP,SNVindel,exonic,SLFN5,NA,nonsynonymous SNV,SLFN5:NM_144975:exon4:c.C1595T:p.S532F,D,N,D,T,D,T
chr17,33935295,33935295,G,A,R010_S,AP2B1,Silent,NM_001030006,exon5,c.G414A,p.R138R,SNP,SNVindel,exonic,AP2B1,NA,synonymous SNV,"AP2B1:NM_001030006:exon5:c.G414A:p.R138R,AP2B1:NM_001282:exon5:c.G414A:p.R138R",NA,NA,NA,NA,NA,NA
chr17,33953812,33953812,G,A,R010_S,AP2B1,Missense_Mutation,NM_001030006,exon7,c.G889A,p.E297K,SNP,SNVindel,exonic,AP2B1,NA,nonsynonymous SNV,"AP2B1:NM_001030006:exon7:c.G889A:p.E297K,AP2B1:NM_001282:exon7:c.G889A:p.E297K",.,D,D,.,.,D
chr17,34251629,34251629,G,A,R010_S,RDM1,Missense_Mutation,NM_001163122,exon3,c.C478T,p.P160S,SNP,SNVindel,exonic,RDM1,NA,nonsynonymous SNV,"RDM1:NM_001163122:exon3:c.C478T:p.P160S,RDM1:NM_001163130:exon3:c.C478T:p.P160S,RDM1:NM_001034836:exon4:c.C547T:p.P183S,RDM1:NM_001163121:exon4:c.C547T:p.P183S,RDM1:NM_145654:exon4:c.C547T:p.P183S",.,N,N,.,.,T
chr17,34251759,34251759,G,A,R010_S,RDM1,Silent,NM_001163122,exon3,c.C348T,p.D116D,SNP,SNVindel,exonic,RDM1,NA,synonymous SNV,"RDM1:NM_001163122:exon3:c.C348T:p.D116D,RDM1:NM_001163130:exon3:c.C348T:p.D116D,RDM1:NM_001034836:exon4:c.C417T:p.D139D,RDM1:NM_001163121:exon4:c.C417T:p.D139D,RDM1:NM_145654:exon4:c.C417T:p.D139D",NA,NA,NA,NA,NA,NA
chr17,34912937,34912937,T,C,R010_S,GGNBP2,Silent,NM_024835,exon4,c.T189C,p.L63L,SNP,SNVindel,exonic,GGNBP2,NA,synonymous SNV,GGNBP2:NM_024835:exon4:c.T189C:p.L63L,NA,NA,NA,NA,NA,NA
chr17,35632939,35632939,G,A,R010_S,ACACA,Missense_Mutation,NM_198837,exon6,c.C521T,p.P174L,SNP,SNVindel,exonic,ACACA,NA,nonsynonymous SNV,"ACACA:NM_198837:exon6:c.C521T:p.P174L,ACACA:NM_198838:exon7:c.C461T:p.P154L,ACACA:NM_198834:exon8:c.C806T:p.P269L,ACACA:NM_198836:exon8:c.C695T:p.P232L,ACACA:NM_198839:exon12:c.C695T:p.P232L",.,D,D,.,.,D
chr17,35936477,35936477,C,T,R010_S,SYNRG,Missense_Mutation,NM_001163544,exon7,c.G629A,p.R210K,SNP,SNVindel,exonic,SYNRG,NA,nonsynonymous SNV,"SYNRG:NM_001163544:exon7:c.G629A:p.R210K,SYNRG:NM_001163545:exon7:c.G626A:p.R209K,SYNRG:NM_001163546:exon7:c.G629A:p.R210K,SYNRG:NM_001163547:exon7:c.G629A:p.R210K,SYNRG:NM_080550:exon7:c.G629A:p.R210K,SYNRG:NM_198882:exon7:c.G629A:p.R210K,SYNRG:NM_007247:exon8:c.G863A:p.R288K",.,D,N,.,.,T
chr17,35969393,35969393,C,T,R010_S,SYNRG,Missense_Mutation,NM_001163544,exon1,c.G11A,p.R4Q,SNP,SNVindel,exonic,SYNRG,NA,nonsynonymous SNV,"SYNRG:NM_001163544:exon1:c.G11A:p.R4Q,SYNRG:NM_001163545:exon1:c.G11A:p.R4Q,SYNRG:NM_001163546:exon1:c.G11A:p.R4Q,SYNRG:NM_001163547:exon1:c.G11A:p.R4Q,SYNRG:NM_007247:exon1:c.G11A:p.R4Q,SYNRG:NM_080550:exon1:c.G11A:p.R4Q,SYNRG:NM_198882:exon1:c.G11A:p.R4Q",.,.,D,.,.,T
chr17,36486483,36486483,G,A,R010_S,GPR179,Missense_Mutation,NM_001004334,exon11,c.C2969T,p.T990I,SNP,SNVindel,exonic,GPR179,NA,nonsynonymous SNV,GPR179:NM_001004334:exon11:c.C2969T:p.T990I,.,D,N,.,.,T
chr17,37682234,37682234,C,T,R010_S,CDK12,Missense_Mutation,NM_015083,exon13,c.C3425T,p.S1142F,SNP,SNVindel,exonic,CDK12,NA,nonsynonymous SNV,"CDK12:NM_015083:exon13:c.C3425T:p.S1142F,CDK12:NM_016507:exon13:c.C3425T:p.S1142F",D,D,D,T,N,T
chr17,38183269,38183269,G,A,R010_S,MED24,Missense_Mutation,NM_001079518,exon16,c.C1510T,p.R504C,SNP,SNVindel,exonic,MED24,NA,nonsynonymous SNV,"MED24:NM_001079518:exon16:c.C1510T:p.R504C,MED24:NM_001267797:exon16:c.C1510T:p.R504C,MED24:NM_014815:exon17:c.C1549T:p.R517C,MED24:NM_001330211:exon18:c.C1606T:p.R536C",T,D,N,T,N,T
chr17,38230792,38230792,C,T,R010_S,THRA,Silent,NM_001190918,exon2,c.C51T,p.N17N,SNP,SNVindel,exonic,THRA,NA,synonymous SNV,"THRA:NM_001190918:exon2:c.C51T:p.N17N,THRA:NM_001190919:exon2:c.C51T:p.N17N,THRA:NM_003250:exon2:c.C51T:p.N17N,THRA:NM_199334:exon2:c.C51T:p.N17N",NA,NA,NA,NA,NA,NA
chr17,38252775,38252775,G,A,R010_S,NR1D1,Silent,NM_021724,exon4,c.C525T,p.C175C,SNP,SNVindel,exonic,NR1D1,NA,synonymous SNV,NR1D1:NM_021724:exon4:c.C525T:p.C175C,NA,NA,NA,NA,NA,NA
chr17,38324543,38324543,C,T,R010_S,CASC3,Missense_Mutation,NM_007359,exon11,c.C1838T,p.P613L,SNP,SNVindel,exonic,CASC3,NA,nonsynonymous SNV,CASC3:NM_007359:exon11:c.C1838T:p.P613L,D,D,D,.,D,T
chr17,38711001,38711001,G,A,R010_S,CCR7,Missense_Mutation,NM_001301714,exon2,c.C941T,p.S314F,SNP,SNVindel,exonic,CCR7,NA,nonsynonymous SNV,"CCR7:NM_001301714:exon2:c.C941T:p.S314F,CCR7:NM_001301716:exon3:c.C1112T:p.S371F,CCR7:NM_001301717:exon3:c.C1112T:p.S371F,CCR7:NM_001301718:exon3:c.C1112T:p.S371F,CCR7:NM_001838:exon3:c.C1130T:p.S377F",D,D,D,T,D,T
chr17,38798775,38798775,G,A,R010_S,SMARCE1,Missense_Mutation,NM_003079,exon4,c.C88T,p.P30S,SNP,SNVindel,exonic,SMARCE1,NA,nonsynonymous SNV,SMARCE1:NM_003079:exon4:c.C88T:p.P30S,D,D,D,T,N,T
chr17,38926507,38926507,C,T,R010_S,KRT26,Missense_Mutation,NM_181539,exon3,c.G679A,p.E227K,SNP,SNVindel,exonic,KRT26,NA,nonsynonymous SNV,KRT26:NM_181539:exon3:c.G679A:p.E227K,D,N,D,T,D,D
chr17,39119958,39119958,G,A,R010_S,KRT39,Missense_Mutation,NM_213656,exon3,c.C629T,p.T210I,SNP,SNVindel,exonic,KRT39,NA,nonsynonymous SNV,KRT39:NM_213656:exon3:c.C629T:p.T210I,D,N,D,D,D,D
chr17,39464095,39464095,G,A,R010_S,KRTAP16-1,Silent,NM_001146182,exon1,c.C1411T,p.L471L,SNP,SNVindel,exonic,KRTAP16-1,NA,synonymous SNV,KRTAP16-1:NM_001146182:exon1:c.C1411T:p.L471L,NA,NA,NA,NA,NA,NA
chr17,39882128,39882128,C,T,R010_S,HAP1,Silent,NM_001079870,exon9,c.G1338A,p.G446G,SNP,SNVindel,exonic,HAP1,NA,synonymous SNV,"HAP1:NM_001079870:exon9:c.G1338A:p.G446G,HAP1:NM_001079871:exon9:c.G1314A:p.G438G,HAP1:NM_001367461:exon9:c.G1314A:p.G438G,HAP1:NM_001367462:exon9:c.G1314A:p.G438G,HAP1:NM_001367459:exon10:c.G1485A:p.G495G,HAP1:NM_001367460:exon10:c.G1449A:p.G483G,HAP1:NM_177977:exon10:c.G1389A:p.G463G",NA,NA,NA,NA,NA,NA
chr17,40254305,40254305,G,A,R010_S,DHX58,Missense_Mutation,NM_024119,exon13,c.C1780T,p.P594S,SNP,SNVindel,exonic,DHX58,NA,nonsynonymous SNV,DHX58:NM_024119:exon13:c.C1780T:p.P594S,T,N,N,T,N,T
chr17,40266395,40266395,G,A,R010_S,KAT2A,Missense_Mutation,NM_021078,exon15,c.C2152T,p.P718S,SNP,SNVindel,exonic,KAT2A,NA,nonsynonymous SNV,KAT2A:NM_021078:exon15:c.C2152T:p.P718S,T,D,D,T,D,T
chr17,40315287,40315287,C,T,R010_S,KCNH4,Missense_Mutation,NM_012285,exon14,c.G2543A,p.R848K,SNP,SNVindel,exonic,KCNH4,NA,nonsynonymous SNV,KCNH4:NM_012285:exon14:c.G2543A:p.R848K,T,N,N,D,N,T
chr17,40696231,40696231,C,T,R010_S,NAGLU,Missense_Mutation,NM_000263,exon6,c.C2207T,p.P736L,SNP,SNVindel,exonic,NAGLU,NA,nonsynonymous SNV,NAGLU:NM_000263:exon6:c.C2207T:p.P736L,D,N,D,D,D,D
chr17,40706458,40706458,C,T,R010_S,HSD17B1,Missense_Mutation,NM_000413,exon5,c.C575T,p.A192V,SNP,SNVindel,exonic,HSD17B1,NA,nonsynonymous SNV,"HSD17B1:NM_000413:exon5:c.C575T:p.A192V,HSD17B1:NM_001330219:exon5:c.C578T:p.A193V",.,D,D,D,.,T
chr17,40850776,40850776,C,T,R010_S,CNTNAP1,Missense_Mutation,NM_003632,exon24,c.C4003T,p.P1335S,SNP,SNVindel,exonic,CNTNAP1,NA,nonsynonymous SNV,CNTNAP1:NM_003632:exon24:c.C4003T:p.P1335S,T,N,N,D,N,T
chr17,40937157,40937157,G,A,R010_S,WNK4,Missense_Mutation,NM_032387,exon5,c.G1213A,p.V405M,SNP,SNVindel,exonic,WNK4,NA,nonsynonymous SNV,WNK4:NM_032387:exon5:c.G1213A:p.V405M,D,N,D,T,N,T
chr17,40946927,40946927,C,T,R010_S,WNK4,Missense_Mutation,NM_001321299,exon13,c.C1480T,p.P494S,SNP,SNVindel,exonic,WNK4,NA,nonsynonymous SNV,"WNK4:NM_001321299:exon13:c.C1480T:p.P494S,WNK4:NM_032387:exon14:c.C2488T:p.P830S",T,D,D,T,N,T
chr17,40996962,40996962,G,A,R010_S,AOC2,Missense_Mutation,NM_001158,exon1,c.G319A,p.A107T,SNP,SNVindel,exonic,AOC2,NA,nonsynonymous SNV,"AOC2:NM_001158:exon1:c.G319A:p.A107T,AOC2:NM_009590:exon1:c.G319A:p.A107T",T,N,N,T,N,T
chr17,41008412,41008412,G,A,R010_S,AOC3,Missense_Mutation,NM_001277732,exon4,c.G508A,p.E170K,SNP,SNVindel,exonic,AOC3,NA,nonsynonymous SNV,"AOC3:NM_001277732:exon4:c.G508A:p.E170K,AOC3:NM_003734:exon4:c.G2137A:p.E713K",D,N,D,T,D,T
chr17,41585194,41585194,G,A,R010_S,DHX8,Silent,NM_001322217,exon14,c.G1854A,p.Q618Q,SNP,SNVindel,exonic,DHX8,NA,synonymous SNV,"DHX8:NM_001322217:exon14:c.G1854A:p.Q618Q,DHX8:NM_001302623:exon15:c.G2127A:p.Q709Q,DHX8:NM_001322216:exon15:c.G1302A:p.Q434Q,DHX8:NM_001322218:exon15:c.G2121A:p.Q707Q,DHX8:NM_001322219:exon15:c.G2127A:p.Q709Q,DHX8:NM_001322220:exon15:c.G2127A:p.Q709Q,DHX8:NM_001322221:exon15:c.G2121A:p.Q707Q,DHX8:NM_004941:exon15:c.G2127A:p.Q709Q",NA,NA,NA,NA,NA,NA
chr17,41603931,41603931,G,A,R010_S,DHX8,Missense_Mutation,NM_001302623,exon23,c.G3511A,p.D1171N,SNP,SNVindel,exonic,DHX8,NA,nonsynonymous SNV,"DHX8:NM_001302623:exon23:c.G3511A:p.D1171N,DHX8:NM_001322218:exon23:c.G3505A:p.D1169N",T,.,N,T,N,T
chr17,42228369,42228369,C,T,R010_S,C17orf53,Missense_Mutation,NM_001171251,exon4,c.C1265T,p.P422L,SNP,SNVindel,exonic,C17orf53,NA,nonsynonymous SNV,"C17orf53:NM_001171251:exon4:c.C1265T:p.P422L,C17orf53:NM_001321311:exon4:c.C1262T:p.P421L,C17orf53:NM_024032:exon4:c.C1265T:p.P422L",T,D,D,T,D,T
chr17,42293033,42293033,C,T,R010_S,UBTF,Missense_Mutation,NM_001076683,exon5,c.G463A,p.E155K,SNP,SNVindel,exonic,UBTF,NA,nonsynonymous SNV,"UBTF:NM_001076683:exon5:c.G463A:p.E155K,UBTF:NM_001076684:exon5:c.G463A:p.E155K,UBTF:NM_014233:exon5:c.G463A:p.E155K",D,D,D,D,D,D
chr17,42453530,42453530,C,T,R010_S,ITGA2B,Missense_Mutation,NM_000419,exon24,c.G2371A,p.V791M,SNP,SNVindel,exonic,ITGA2B,NA,nonsynonymous SNV,ITGA2B:NM_000419:exon24:c.G2371A:p.V791M,D,N,D,T,N,T
chr17,42475735,42475735,G,A,R010_S,GPATCH8,Missense_Mutation,NM_001304943,exon5,c.C3476T,p.P1159L,SNP,SNVindel,exonic,GPATCH8,NA,nonsynonymous SNV,"GPATCH8:NM_001304943:exon5:c.C3476T:p.P1159L,GPATCH8:NM_001304939:exon7:c.C3635T:p.P1212L,GPATCH8:NM_001304942:exon7:c.C3476T:p.P1159L,GPATCH8:NM_001002909:exon8:c.C3710T:p.P1237L,GPATCH8:NM_001304941:exon9:c.C3476T:p.P1159L,GPATCH8:NM_001304940:exon10:c.C3476T:p.P1159L",.,N,D,T,.,T
chr17,42746762,42746762,C,T,R010_S,MEIOC,Silent,NM_001145080,exon6,c.C2334T,p.A778A,SNP,SNVindel,exonic,MEIOC,NA,synonymous SNV,MEIOC:NM_001145080:exon6:c.C2334T:p.A778A,NA,NA,NA,NA,NA,NA
chr17,42853035,42853035,C,T,R010_S,ADAM11,Silent,NM_001318933,exon17,c.C876T,p.R292R,SNP,SNVindel,exonic,ADAM11,NA,synonymous SNV,"ADAM11:NM_001318933:exon17:c.C876T:p.R292R,ADAM11:NM_002390:exon17:c.C1476T:p.R492R",NA,NA,NA,NA,NA,NA
chr17,42964055,42964055,C,T,R010_S,EFTUD2,Missense_Mutation,NM_001142605,exon2,c.G64A,p.V22M,SNP,SNVindel,exonic,EFTUD2,NA,nonsynonymous SNV,"EFTUD2:NM_001142605:exon2:c.G64A:p.V22M,EFTUD2:NM_001258353:exon3:c.G169A:p.V57M,EFTUD2:NM_001258354:exon3:c.G169A:p.V57M,EFTUD2:NM_004247:exon3:c.G169A:p.V57M",D,D,D,T,N,D
chr17,42979946,42979946,C,T,R010_S,CCDC103,Silent,NM_001258395,exon4,c.C490T,p.L164L,SNP,SNVindel,exonic,CCDC103,NA,synonymous SNV,"CCDC103:NM_001258395:exon4:c.C490T:p.L164L,CCDC103:NM_001258396:exon4:c.C490T:p.L164L,CCDC103:NM_213607:exon4:c.C490T:p.L164L",NA,NA,NA,NA,NA,NA
chr17,43102026,43102026,G,A,R010_S,DCAKD,Silent,NM_001128631,exon5,c.C471T,p.A157A,SNP,SNVindel,exonic,DCAKD,NA,synonymous SNV,"DCAKD:NM_001128631:exon5:c.C471T:p.A157A,DCAKD:NM_001288654:exon5:c.C471T:p.A157A,DCAKD:NM_001288655:exon5:c.C471T:p.A157A,DCAKD:NM_001321326:exon5:c.C471T:p.A157A,DCAKD:NM_024819:exon5:c.C471T:p.A157A",NA,NA,NA,NA,NA,NA
chr17,43181226,43181226,C,T,R010_S,NMT1,Silent,NM_021079,exon10,c.C1314T,p.A438A,SNP,SNVindel,exonic,NMT1,NA,synonymous SNV,NMT1:NM_021079:exon10:c.C1314T:p.A438A,NA,NA,NA,NA,NA,NA
chr17,43316322,43316322,G,A,R010_S,FMNL1,Missense_Mutation,NM_005892,exon11,c.G970A,p.V324M,SNP,SNVindel,exonic,FMNL1,NA,nonsynonymous SNV,FMNL1:NM_005892:exon11:c.G970A:p.V324M,D,D,D,D,D,D
chr17,43322687,43322687,G,A,R010_S,FMNL1,Silent,NM_005892,exon22,c.G2796A,p.E932E,SNP,SNVindel,exonic,FMNL1,NA,synonymous SNV,FMNL1:NM_005892:exon22:c.G2796A:p.E932E,NA,NA,NA,NA,NA,NA
chr17,43924145,43924145,C,T,R010_S,SPPL2C,Silent,NM_175882,exon1,c.C1873T,p.L625L,SNP,SNVindel,exonic,SPPL2C,NA,synonymous SNV,SPPL2C:NM_175882:exon1:c.C1873T:p.L625L,NA,NA,NA,NA,NA,NA
chr17,44060997,44060997,C,T,R010_S,MAPT,Missense_Mutation,NM_001123066,exon6,c.C827T,p.S276F,SNP,SNVindel,exonic,MAPT,NA,nonsynonymous SNV,"MAPT:NM_001123066:exon6:c.C827T:p.S276F,MAPT:NM_016835:exon6:c.C827T:p.S276F",D,N,N,T,N,T
chr17,45331270,45331270,C,T,R010_S,ITGB3,Silent,NM_000212,exon1,c.C43T,p.L15L,SNP,SNVindel,exonic,ITGB3,NA,synonymous SNV,ITGB3:NM_000212:exon1:c.C43T:p.L15L,NA,NA,NA,NA,NA,NA
chr17,45455164,45455164,G,A,R010_S,EFCAB13,Missense_Mutation,NM_001195192,exon11,c.G1117A,p.E373K,SNP,SNVindel,exonic,EFCAB13,NA,nonsynonymous SNV,"EFCAB13:NM_001195192:exon11:c.G1117A:p.E373K,EFCAB13:NM_152347:exon13:c.G1405A:p.E469K",T,N,N,T,N,T
chr17,46198603,46198603,C,T,R010_S,SNX11,Silent,NM_001330320,exon7,c.C522T,p.C174C,SNP,SNVindel,exonic,SNX11,NA,synonymous SNV,"SNX11:NM_001330320:exon7:c.C522T:p.C174C,SNX11:NM_013323:exon7:c.C546T:p.C182C,SNX11:NM_152244:exon8:c.C546T:p.C182C",NA,NA,NA,NA,NA,NA
chr17,47013584,47013584,G,A,R010_S,SNF8,Silent,NM_001317193,exon4,c.C319T,p.L107L,SNP,SNVindel,exonic,SNF8,NA,synonymous SNV,"SNF8:NM_001317193:exon4:c.C319T:p.L107L,SNF8:NM_001317192:exon5:c.C370T:p.L124L,SNF8:NM_007241:exon5:c.C370T:p.L124L,SNF8:NM_001317194:exon7:c.C58T:p.L20L",NA,NA,NA,NA,NA,NA
chr17,47246143,47246143,C,T,R010_S,B4GALNT2,Missense_Mutation,NM_001159387,exon10,c.C1196T,p.P399L,SNP,SNVindel,exonic,B4GALNT2,NA,nonsynonymous SNV,"B4GALNT2:NM_001159387:exon10:c.C1196T:p.P399L,B4GALNT2:NM_001159388:exon10:c.C1118T:p.P373L,B4GALNT2:NM_153446:exon10:c.C1376T:p.P459L",T,N,N,T,D,T
chr17,47781502,47781502,C,T,R010_S,SLC35B1,Missense_Mutation,NM_001278784,exon6,c.G414A,p.M138I,SNP,SNVindel,exonic,SLC35B1,NA,nonsynonymous SNV,"SLC35B1:NM_001278784:exon6:c.G414A:p.M138I,SLC35B1:NM_005827:exon6:c.G615A:p.M205I",D,D,D,T,D,T
chr17,47886526,47886526,T,A,R010_S,KAT7,Missense_Mutation,NM_001199156,exon4,c.T292A,p.S98T,SNP,SNVindel,exonic,KAT7,NA,nonsynonymous SNV,"KAT7:NM_001199156:exon4:c.T292A:p.S98T,KAT7:NM_001346706:exon5:c.T469A:p.S157T,KAT7:NM_007067:exon6:c.T709A:p.S237T",T,N,D,.,N,T
chr17,48218642,48218642,G,A,R010_S,PPP1R9B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PPP1R9B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,48222603,48222603,C,T,R010_S,PPP1R9B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PPP1R9B,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr17,48559749,48559749,C,T,R010_S,RSAD1,Nonsense_Mutation,NM_018346,exon4,c.C772T,p.Q258X,SNP,SNVindel,exonic,RSAD1,NA,stopgain,RSAD1:NM_018346:exon4:c.C772T:p.Q258X,.,N,A,.,.,.
chr17,48596036,48596036,C,T,R010_S,MYCBPAP,Silent,NM_001366294,exon5,c.C648T,p.N216N,SNP,SNVindel,exonic,MYCBPAP,NA,synonymous SNV,"MYCBPAP:NM_001366294:exon5:c.C648T:p.N216N,MYCBPAP:NM_032133:exon5:c.C603T:p.N201N",NA,NA,NA,NA,NA,NA
chr17,48618381,48618381,G,A,R010_S,EPN3,Missense_Mutation,NM_017957,exon7,c.G1207A,p.A403T,SNP,SNVindel,exonic,EPN3,NA,nonsynonymous SNV,EPN3:NM_017957:exon7:c.G1207A:p.A403T,T,N,D,T,N,T
chr17,48745166,48745166,C,T,R010_S,ABCC3,Silent,NM_001144070,exon12,c.C1683T,p.C561C,SNP,SNVindel,exonic,ABCC3,NA,synonymous SNV,ABCC3:NM_001144070:exon12:c.C1683T:p.C561C,NA,NA,NA,NA,NA,NA
chr17,48746865,48746865,G,A,R010_S,ABCC3,Silent,NM_003786,exon17,c.G2217A,p.G739G,SNP,SNVindel,exonic,ABCC3,NA,synonymous SNV,ABCC3:NM_003786:exon17:c.G2217A:p.G739G,NA,NA,NA,NA,NA,NA
chr17,48755253,48755253,C,T,R010_S,ABCC3,Missense_Mutation,NM_003786,exon24,c.C3527T,p.T1176I,SNP,SNVindel,exonic,ABCC3,NA,nonsynonymous SNV,ABCC3:NM_003786:exon24:c.C3527T:p.T1176I,T,N,N,D,N,T
chr17,49071223,49071223,G,A,R010_S,SPAG9,Missense_Mutation,NM_001251971,exon15,c.C1829T,p.A610V,SNP,SNVindel,exonic,SPAG9,NA,nonsynonymous SNV,"SPAG9:NM_001251971:exon15:c.C1829T:p.A610V,SPAG9:NM_003971:exon18:c.C2258T:p.A753V,SPAG9:NM_001130527:exon19:c.C2270T:p.A757V,SPAG9:NM_001130528:exon19:c.C2300T:p.A767V",D,D,D,T,N,T
chr17,49294712,49294712,C,T,R010_S,MBTD1,Missense_Mutation,NM_017643,exon6,c.G469A,p.V157I,SNP,SNVindel,exonic,MBTD1,NA,nonsynonymous SNV,MBTD1:NM_017643:exon6:c.G469A:p.V157I,D,N,D,T,N,T
chr17,53158500,53158500,C,T,R010_S,STXBP4,Missense_Mutation,NM_178509,exon16,c.C1445T,p.S482F,SNP,SNVindel,exonic,STXBP4,NA,nonsynonymous SNV,STXBP4:NM_178509:exon16:c.C1445T:p.S482F,D,N,D,T,N,T
chr17,54872433,54872433,G,A,R010_S,C17orf67,Missense_Mutation,NM_001085430,exon7,c.C265T,p.P89S,SNP,SNVindel,exonic,C17orf67,NA,nonsynonymous SNV,C17orf67:NM_001085430:exon7:c.C265T:p.P89S,.,U,D,.,.,T
chr17,56345273,56345273,C,T,R010_S,LPO,Missense_Mutation,NM_001160102,exon11,c.C1808T,p.A603V,SNP,SNVindel,exonic,LPO,NA,nonsynonymous SNV,"LPO:NM_001160102:exon11:c.C1808T:p.A603V,LPO:NM_006151:exon13:c.C2057T:p.A686V",T,N,N,T,N,T
chr17,56355314,56355314,G,A,R010_S,MPO,Silent,NM_000250,exon7,c.C1078T,p.L360L,SNP,SNVindel,exonic,MPO,NA,synonymous SNV,MPO:NM_000250:exon7:c.C1078T:p.L360L,NA,NA,NA,NA,NA,NA
chr17,56356756,56356756,C,T,R010_S,MPO,Missense_Mutation,NM_000250,exon5,c.G580A,p.A194T,SNP,SNVindel,exonic,MPO,NA,nonsynonymous SNV,MPO:NM_000250:exon5:c.G580A:p.A194T,D,N,N,T,N,T
chr17,56400689,56400689,G,A,R010_S,TSPOAP1,Silent,NM_024418,exon6,c.C894T,p.A298A,SNP,SNVindel,exonic,TSPOAP1,NA,synonymous SNV,"TSPOAP1:NM_024418:exon6:c.C894T:p.A298A,TSPOAP1:NM_001261835:exon7:c.C1074T:p.A358A,TSPOAP1:NM_004758:exon7:c.C1074T:p.A358A",NA,NA,NA,NA,NA,NA
chr17,56429433,56429433,C,T,R010_S,SUPT4H1,Missense_Mutation,NM_003168,exon1,c.G64A,p.V22I,SNP,SNVindel,exonic,SUPT4H1,NA,nonsynonymous SNV,SUPT4H1:NM_003168:exon1:c.G64A:p.V22I,T,U,D,.,N,T
chr17,57153052,57153052,C,T,R010_S,TRIM37,Missense_Mutation,NM_001353085,exon6,c.G178A,p.E60K,SNP,SNVindel,exonic,TRIM37,NA,nonsynonymous SNV,"TRIM37:NM_001353085:exon6:c.G178A:p.E60K,TRIM37:NM_001320987:exon7:c.G538A:p.E180K,TRIM37:NM_001353082:exon7:c.G538A:p.E180K,TRIM37:NM_001005207:exon8:c.G640A:p.E214K,TRIM37:NM_001320988:exon8:c.G640A:p.E214K,TRIM37:NM_001320989:exon8:c.G640A:p.E214K,TRIM37:NM_001353084:exon8:c.G640A:p.E214K,TRIM37:NM_001353086:exon8:c.G640A:p.E214K,TRIM37:NM_015294:exon8:c.G640A:p.E214K,TRIM37:NM_001320990:exon9:c.G274A:p.E92K",T,D,D,T,D,D
chr17,58040531,58040531,G,A,R010_S,RNFT1,Silent,NM_016125,exon2,c.C171T,p.A57A,SNP,SNVindel,exonic,RNFT1,NA,synonymous SNV,RNFT1:NM_016125:exon2:c.C171T:p.A57A,NA,NA,NA,NA,NA,NA
chr17,58366034,58366034,C,T,R010_S,USP32,Missense_Mutation,NM_032582,exon5,c.G421A,p.V141I,SNP,SNVindel,exonic,USP32,NA,nonsynonymous SNV,USP32:NM_032582:exon5:c.G421A:p.V141I,T,D,D,T,N,T
chr17,58734171,58734171,C,T,R010_S,PPM1D,Missense_Mutation,NM_003620,exon5,c.C1229T,p.T410I,SNP,SNVindel,exonic,PPM1D,NA,nonsynonymous SNV,PPM1D:NM_003620:exon5:c.C1229T:p.T410I,D,N,N,T,N,T
chr17,60023927,60023927,G,A,R010_S,MED13,Silent,NM_005121,exon30,c.C6427T,p.L2143L,SNP,SNVindel,exonic,MED13,NA,synonymous SNV,MED13:NM_005121:exon30:c.C6427T:p.L2143L,NA,NA,NA,NA,NA,NA
chr17,60824317,60824317,C,T,R010_S,MARCHF10,Nonsense_Mutation,NM_001288779,exon5,c.G405A,p.W135X,SNP,SNVindel,exonic,MARCHF10,NA,stopgain,MARCHF10:NM_001288779:exon5:c.G405A:p.W135X,.,.,A,.,.,.
chr17,61561228,61561228,C,T,R010_S,ACE,Silent,NM_000789,exon11,c.C1605T,p.V535V,SNP,SNVindel,exonic,ACE,NA,synonymous SNV,ACE:NM_000789:exon11:c.C1605T:p.V535V,NA,NA,NA,NA,NA,NA
chr17,61776065,61776065,G,A,R010_S,LIMD2,Silent,NM_030576,exon5,c.C231T,p.G77G,SNP,SNVindel,exonic,LIMD2,NA,synonymous SNV,LIMD2:NM_030576:exon5:c.C231T:p.G77G,NA,NA,NA,NA,NA,NA
chr17,61842201,61842201,C,T,R010_S,CCDC47,Missense_Mutation,NM_020198,exon3,c.G271A,p.D91N,SNP,SNVindel,exonic,CCDC47,NA,nonsynonymous SNV,CCDC47:NM_020198:exon3:c.G271A:p.D91N,T,D,D,.,N,T
chr17,62019148,62019148,G,A,R010_S,SCN4A,Silent,NM_000334,exon24,c.C4494T,p.I1498I,SNP,SNVindel,exonic,SCN4A,NA,synonymous SNV,SCN4A:NM_000334:exon24:c.C4494T:p.I1498I,NA,NA,NA,NA,NA,NA
chr17,63221404,63221404,C,T,R010_S,RGS9,Silent,NM_001081955,exon18,c.C1683T,p.S561S,SNP,SNVindel,exonic,RGS9,NA,synonymous SNV,"RGS9:NM_001081955:exon18:c.C1683T:p.S561S,RGS9:NM_003835:exon18:c.C1692T:p.S564S",NA,NA,NA,NA,NA,NA
chr17,64024463,64024463,C,T,R010_S,CEP112,Missense_Mutation,NM_001302891,exon13,c.G1438A,p.E480K,SNP,SNVindel,exonic,CEP112,NA,nonsynonymous SNV,"CEP112:NM_001302891:exon13:c.G1438A:p.E480K,CEP112:NM_001353128:exon13:c.G1438A:p.E480K,CEP112:NM_001199165:exon15:c.G1564A:p.E522K,CEP112:NM_001353127:exon15:c.G1564A:p.E522K,CEP112:NM_001353129:exon15:c.G1567A:p.E523K",T,D,N,T,N,T
chr17,64224311,64224311,C,T,R010_S,APOH,Missense_Mutation,NM_000042,exon2,c.G68A,p.C23Y,SNP,SNVindel,exonic,APOH,NA,nonsynonymous SNV,APOH:NM_000042:exon2:c.G68A:p.C23Y,D,D,D,D,D,D
chr17,65103300,65103300,G,A,R010_S,HELZ,Silent,NM_001330447,exon31,c.C5229T,p.L1743L,SNP,SNVindel,exonic,HELZ,NA,synonymous SNV,"HELZ:NM_001330447:exon31:c.C5229T:p.L1743L,HELZ:NM_014877:exon31:c.C5226T:p.L1742L",NA,NA,NA,NA,NA,NA
chr17,65116616,65116616,G,A,R010_S,HELZ,Missense_Mutation,NM_001330447,exon27,c.C3746T,p.P1249L,SNP,SNVindel,exonic,HELZ,NA,nonsynonymous SNV,"HELZ:NM_001330447:exon27:c.C3746T:p.P1249L,HELZ:NM_014877:exon27:c.C3743T:p.P1248L",D,D,D,D,D,D
chr17,65362626,65362626,C,T,R010_S,PSMD12,Missense_Mutation,NM_002816,exon1,c.G10A,p.G4S,SNP,SNVindel,exonic,PSMD12,NA,nonsynonymous SNV,"PSMD12:NM_002816:exon1:c.G10A:p.G4S,PSMD12:NM_174871:exon1:c.G10A:p.G4S",T,D,D,T,N,T
chr17,66246967,66246967,G,A,R010_S,AMZ2,Missense_Mutation,NM_001346471,exon3,c.G316A,p.E106K,SNP,SNVindel,exonic,AMZ2,NA,nonsynonymous SNV,"AMZ2:NM_001346471:exon3:c.G316A:p.E106K,AMZ2:NM_001346481:exon3:c.G214A:p.E72K,AMZ2:NM_001346484:exon3:c.G214A:p.E72K,AMZ2:NM_001346485:exon3:c.G148A:p.E50K,AMZ2:NM_016627:exon3:c.G316A:p.E106K,AMZ2:NM_001033569:exon4:c.G316A:p.E106K,AMZ2:NM_001033570:exon4:c.G316A:p.E106K,AMZ2:NM_001033571:exon4:c.G316A:p.E106K,AMZ2:NM_001033572:exon4:c.G316A:p.E106K,AMZ2:NM_001289054:exon4:c.G316A:p.E106K,AMZ2:NM_001289056:exon4:c.G316A:p.E106K,AMZ2:NM_001346472:exon4:c.G316A:p.E106K,AMZ2:NM_001346473:exon4:c.G316A:p.E106K,AMZ2:NM_001346474:exon4:c.G316A:p.E106K,AMZ2:NM_001346475:exon4:c.G316A:p.E106K,AMZ2:NM_001346476:exon4:c.G316A:p.E106K,AMZ2:NM_001346477:exon4:c.G316A:p.E106K,AMZ2:NM_001346478:exon4:c.G316A:p.E106K,AMZ2:NM_001346479:exon4:c.G316A:p.E106K,AMZ2:NM_001346482:exon4:c.G214A:p.E72K,AMZ2:NM_001346483:exon4:c.G214A:p.E72K",T,N,D,T,N,T
chr17,66596722,66596722,G,A,R010_S,FAM20A,Missense_Mutation,NM_017565,exon1,c.C86T,p.P29L,SNP,SNVindel,exonic,FAM20A,NA,nonsynonymous SNV,FAM20A:NM_017565:exon1:c.C86T:p.P29L,.,N,D,T,.,T
chr17,66903898,66903898,C,T,R010_S,ABCA8,Missense_Mutation,NM_007168,exon16,c.G2141A,p.R714K,SNP,SNVindel,exonic,ABCA8,NA,nonsynonymous SNV,"ABCA8:NM_007168:exon16:c.G2141A:p.R714K,ABCA8:NM_001288986:exon17:c.G2261A:p.R754K,ABCA8:NM_001288985:exon18:c.G2261A:p.R754K",T,N,N,T,N,T
chr17,67024692,67024692,C,T,R010_S,ABCA9,Silent,NM_080283,exon12,c.G1599A,p.L533L,SNP,SNVindel,exonic,ABCA9,NA,synonymous SNV,ABCA9:NM_080283:exon12:c.G1599A:p.L533L,NA,NA,NA,NA,NA,NA
chr17,67251733,67251733,C,T,R010_S,ABCA5,Missense_Mutation,NM_018672,exon30,c.G4019A,p.S1340N,SNP,SNVindel,exonic,ABCA5,NA,nonsynonymous SNV,"ABCA5:NM_018672:exon30:c.G4019A:p.S1340N,ABCA5:NM_172232:exon31:c.G4019A:p.S1340N",D,D,D,D,D,D
chr17,68129171,68129171,G,A,R010_S,KCNJ16,Missense_Mutation,NM_001291623,exon3,c.G1048A,p.E350K,SNP,SNVindel,exonic,KCNJ16,NA,nonsynonymous SNV,"KCNJ16:NM_001291623:exon3:c.G1048A:p.E350K,KCNJ16:NM_001291624:exon4:c.G943A:p.E315K,KCNJ16:NM_170741:exon4:c.G1048A:p.E350K,KCNJ16:NM_170742:exon4:c.G1048A:p.E350K,KCNJ16:NM_001291625:exon5:c.G943A:p.E315K,KCNJ16:NM_018658:exon5:c.G1048A:p.E350K,KCNJ16:NM_001270422:exon6:c.G943A:p.E315K,KCNJ16:NM_001291622:exon6:c.G1048A:p.E350K",T,N,N,D,N,T
chr17,71228427,71228427,C,T,R010_S,FAM104A,Missense_Mutation,NM_001098832,exon1,c.G19A,p.D7N,SNP,SNVindel,exonic,FAM104A,NA,nonsynonymous SNV,"FAM104A:NM_001098832:exon1:c.G19A:p.D7N,FAM104A:NM_001289410:exon1:c.G19A:p.D7N,FAM104A:NM_001289411:exon1:c.G19A:p.D7N,FAM104A:NM_032837:exon1:c.G19A:p.D7N",D,.,D,T,N,T
chr17,72233534,72233534,G,A,R010_S,TTYH2,Silent,NM_001330453,exon4,c.G453A,p.K151K,SNP,SNVindel,exonic,TTYH2,NA,synonymous SNV,"TTYH2:NM_001330453:exon4:c.G453A:p.K151K,TTYH2:NM_032646:exon4:c.G516A:p.K172K",NA,NA,NA,NA,NA,NA
chr17,72480147,72480147,C,T,R010_S,CD300A,Missense_Mutation,NM_001330457,exon5,c.C335T,p.P112L,SNP,SNVindel,exonic,CD300A,NA,nonsynonymous SNV,"CD300A:NM_001330457:exon5:c.C335T:p.P112L,CD300A:NM_001256841:exon6:c.C443T:p.P148L,CD300A:NM_001330456:exon7:c.C392T:p.P131L,CD300A:NM_007261:exon7:c.C782T:p.P261L",D,N,N,T,N,T
chr17,72540888,72540888,C,T,R010_S,CD300C,Missense_Mutation,NM_006678,exon2,c.G260A,p.S87N,SNP,SNVindel,exonic,CD300C,NA,nonsynonymous SNV,CD300C:NM_006678:exon2:c.G260A:p.S87N,T,N,N,T,N,T
chr17,72745262,72745262,C,T,R010_S,SLC9A3R1,Missense_Mutation,NM_004252,exon1,c.C277T,p.P93S,SNP,SNVindel,exonic,SLC9A3R1,NA,nonsynonymous SNV,SLC9A3R1:NM_004252:exon1:c.C277T:p.P93S,T,N,D,T,N,T
chr17,73016451,73016451,G,A,R010_S,MRPL58,Silent,NM_001303265,exon4,c.G327A,p.E109E,SNP,SNVindel,exonic,MRPL58,NA,synonymous SNV,"MRPL58:NM_001303265:exon4:c.G327A:p.E109E,MRPL58:NM_001545:exon4:c.G327A:p.E109E",NA,NA,NA,NA,NA,NA
chr17,73389675,73389675,G,A,R010_S,GRB2,Missense_Mutation,NM_002086,exon2,c.C35T,p.T12I,SNP,SNVindel,exonic,GRB2,NA,nonsynonymous SNV,"GRB2:NM_002086:exon2:c.C35T:p.T12I,GRB2:NM_203506:exon2:c.C35T:p.T12I",D,D,D,T,D,T
chr17,73484909,73484909,G,T,R010_S,TMEM94,Nonsense_Mutation,NM_001321148,exon6,c.G712T,p.G238X,SNP,SNVindel,exonic,TMEM94,NA,stopgain,"TMEM94:NM_001321148:exon6:c.G712T:p.G238X,TMEM94:NM_001351203:exon6:c.G712T:p.G238X,TMEM94:NM_001321149:exon7:c.G682T:p.G228X,TMEM94:NM_001351202:exon7:c.G682T:p.G228X,TMEM94:NM_014738:exon7:c.G682T:p.G228X",.,D,A,.,.,.
chr17,73564722,73564722,G,A,R010_S,LLGL2,Nonsense_Mutation,NM_001031803,exon11,c.G1202A,p.W401X,SNP,SNVindel,exonic,LLGL2,NA,stopgain,"LLGL2:NM_001031803:exon11:c.G1202A:p.W401X,LLGL2:NM_004524:exon11:c.G1202A:p.W401X",.,D,A,.,.,.
chr17,73566167,73566167,G,A,R010_S,LLGL2,Missense_Mutation,NM_001031803,exon15,c.G1705A,p.G569R,SNP,SNVindel,exonic,LLGL2,NA,nonsynonymous SNV,"LLGL2:NM_001031803:exon15:c.G1705A:p.G569R,LLGL2:NM_004524:exon15:c.G1705A:p.G569R",T,D,D,T,D,T
chr17,73597536,73597536,C,T,R010_S,MYO15B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MYO15B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,73620313,73620313,G,A,R010_S,MYO15B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MYO15B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,73621951,73621951,G,A,R010_S,MYO15B,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MYO15B,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,73658967,73658967,G,A,R010_S,RECQL5,Silent,NM_001003715,exon4,c.C363T,p.P121P,SNP,SNVindel,exonic,RECQL5,NA,synonymous SNV,"RECQL5:NM_001003715:exon4:c.C363T:p.P121P,RECQL5:NM_001003716:exon4:c.C363T:p.P121P,RECQL5:NM_004259:exon4:c.C363T:p.P121P",NA,NA,NA,NA,NA,NA
chr17,73702555,73702555,C,T,R010_S,SAP30BP,Missense_Mutation,NM_001301839,exon10,c.C833T,p.T278I,SNP,SNVindel,exonic,SAP30BP,NA,nonsynonymous SNV,"SAP30BP:NM_001301839:exon10:c.C833T:p.T278I,SAP30BP:NM_013260:exon11:c.C881T:p.T294I,SAP30BP:NM_001301855:exon12:c.C983T:p.T328I",.,D,D,.,.,T
chr17,73751873,73751873,G,A,R010_S,ITGB4,Silent,NM_001005619,exon34,c.G4599A,p.E1533E,SNP,SNVindel,exonic,ITGB4,NA,synonymous SNV,"ITGB4:NM_001005619:exon34:c.G4599A:p.E1533E,ITGB4:NM_001005731:exon34:c.G4440A:p.E1480E,ITGB4:NM_001321123:exon34:c.G4440A:p.E1480E,ITGB4:NM_000213:exon35:c.G4650A:p.E1550E",NA,NA,NA,NA,NA,NA
chr17,73812918,73812918,C,T,R010_S,UNK,Silent,NM_001080419,exon8,c.C1029T,p.V343V,SNP,SNVindel,exonic,UNK,NA,synonymous SNV,UNK:NM_001080419:exon8:c.C1029T:p.V343V,NA,NA,NA,NA,NA,NA
chr17,73824902,73824902,C,T,R010_S,UNC13D,Silent,NM_199242,exon31,c.G3117A,p.Q1039Q,SNP,SNVindel,exonic,UNC13D,NA,synonymous SNV,UNC13D:NM_199242:exon31:c.G3117A:p.Q1039Q,NA,NA,NA,NA,NA,NA
chr17,73892902,73892902,C,T,R010_S,TRIM65,Nonsense_Mutation,NM_001256124,exon1,c.G117A,p.W39X,SNP,SNVindel,exonic,TRIM65,NA,stopgain,"TRIM65:NM_001256124:exon1:c.G117A:p.W39X,TRIM65:NM_173547:exon1:c.G117A:p.W39X",.,N,A,.,.,.
chr17,73906805,73906805,C,T,R010_S,FBF1,Silent,NM_001319193,exon29,c.G3446A,p.X1149X,SNP,SNVindel,exonic,FBF1,NA,synonymous SNV,FBF1:NM_001319193:exon29:c.G3446A:p.X1149X,NA,NA,NA,NA,NA,NA
chr17,74003211,74003211,G,A,R010_S,EVPL,Silent,NM_001320747,exon22,c.C6141T,p.S2047S,SNP,SNVindel,exonic,EVPL,NA,synonymous SNV,"EVPL:NM_001320747:exon22:c.C6141T:p.S2047S,EVPL:NM_001988:exon22:c.C6075T:p.S2025S",NA,NA,NA,NA,NA,NA
chr17,74010997,74010997,C,T,R010_S,EVPL,Missense_Mutation,NM_001320747,exon17,c.G2288A,p.R763Q,SNP,SNVindel,exonic,EVPL,NA,nonsynonymous SNV,"EVPL:NM_001320747:exon17:c.G2288A:p.R763Q,EVPL:NM_001988:exon17:c.G2222A:p.R741Q",D,D,D,D,D,T
chr17,74274130,74274130,C,T,R010_S,QRICH2,Missense_Mutation,NM_032134,exon15,c.G4559A,p.S1520N,SNP,SNVindel,exonic,QRICH2,NA,nonsynonymous SNV,QRICH2:NM_032134:exon15:c.G4559A:p.S1520N,T,.,N,T,N,T
chr17,74287909,74287909,C,T,R010_S,QRICH2,Missense_Mutation,NM_032134,exon4,c.G2401A,p.D801N,SNP,SNVindel,exonic,QRICH2,NA,nonsynonymous SNV,QRICH2:NM_032134:exon4:c.G2401A:p.D801N,T,.,N,T,N,T
chr17,74383426,74383426,C,T,R010_S,SPHK1,Missense_Mutation,NM_001142602,exon5,c.C914T,p.A305V,SNP,SNVindel,exonic,SPHK1,NA,nonsynonymous SNV,"SPHK1:NM_001142602:exon5:c.C914T:p.A305V,SPHK1:NM_001142601:exon6:c.C914T:p.A305V,SPHK1:NM_001355139:exon6:c.C914T:p.A305V,SPHK1:NM_021972:exon6:c.C956T:p.A319V,SPHK1:NM_182965:exon6:c.C1172T:p.A391V",D,D,D,T,D,T
chr17,74401599,74401599,G,A,R010_S,UBE2O,Missense_Mutation,NM_022066,exon2,c.C473T,p.S158F,SNP,SNVindel,exonic,UBE2O,NA,nonsynonymous SNV,UBE2O:NM_022066:exon2:c.C473T:p.S158F,T,D,D,T,D,T
chr17,74468804,74468804,G,A,R010_S,RHBDF2,Silent,NM_001005498,exon17,c.C2028T,p.N676N,SNP,SNVindel,exonic,RHBDF2,NA,synonymous SNV,"RHBDF2:NM_001005498:exon17:c.C2028T:p.N676N,RHBDF2:NM_024599:exon18:c.C2115T:p.N705N",NA,NA,NA,NA,NA,NA
chr17,74639708,74639708,G,A,R010_S,ST6GALNAC1,Silent,NM_018414,exon1,c.C13T,p.L5L,SNP,SNVindel,exonic,ST6GALNAC1,NA,synonymous SNV,ST6GALNAC1:NM_018414:exon1:c.C13T:p.L5L,NA,NA,NA,NA,NA,NA
chr17,74868923,74868923,C,T,R010_S,MGAT5B,Missense_Mutation,NM_198955,exon1,c.C92T,p.P31L,SNP,SNVindel,exonic,MGAT5B,NA,nonsynonymous SNV,MGAT5B:NM_198955:exon1:c.C92T:p.P31L,D,.,N,T,N,T
chr17,76399889,76399889,C,T,R010_S,PGS1,Missense_Mutation,NM_024419,exon7,c.C1121T,p.T374I,SNP,SNVindel,exonic,PGS1,NA,nonsynonymous SNV,PGS1:NM_024419:exon7:c.C1121T:p.T374I,T,D,D,T,D,T
chr17,76450756,76450756,G,A,R010_S,DNAH17,Missense_Mutation,NM_173628,exon64,c.C10202T,p.P3401L,SNP,SNVindel,exonic,DNAH17,NA,nonsynonymous SNV,DNAH17:NM_173628:exon64:c.C10202T:p.P3401L,.,D,D,T,.,T
chr17,76471858,76471858,C,T,R010_S,DNAH17,Missense_Mutation,NM_173628,exon53,c.G8212A,p.G2738R,SNP,SNVindel,exonic,DNAH17,NA,nonsynonymous SNV,DNAH17:NM_173628:exon53:c.G8212A:p.G2738R,.,.,D,T,.,T
chr17,76501480,76501480,C,T,R010_S,DNAH17,Silent,NM_173628,exon31,c.G4851A,p.K1617K,SNP,SNVindel,exonic,DNAH17,NA,synonymous SNV,DNAH17:NM_173628:exon31:c.G4851A:p.K1617K,NA,NA,NA,NA,NA,NA
chr17,76533537,76533537,G,A,R010_S,DNAH17,Silent,NM_173628,exon19,c.C2703T,p.I901I,SNP,SNVindel,exonic,DNAH17,NA,synonymous SNV,DNAH17:NM_173628:exon19:c.C2703T:p.I901I,NA,NA,NA,NA,NA,NA
chr17,76993348,76993348,G,A,R010_S,CANT1,Silent,NM_138793,exon2,c.C357T,p.A119A,SNP,SNVindel,exonic,CANT1,NA,synonymous SNV,"CANT1:NM_138793:exon2:c.C357T:p.A119A,CANT1:NM_001159773:exon3:c.C357T:p.A119A,CANT1:NM_001159772:exon4:c.C357T:p.A119A",.,.,D,.,.,.
chr17,77079564,77079564,G,A,R010_S,ENGASE,Silent,NM_001042573,exon9,c.G1143A,p.K381K,SNP,SNVindel,exonic,ENGASE,NA,synonymous SNV,ENGASE:NM_001042573:exon9:c.G1143A:p.K381K,NA,NA,NA,NA,NA,NA
chr17,78226451,78226451,C,T,R010_S,SLC26A11,Missense_Mutation,NM_001166348,exon17,c.C1757T,p.T586I,SNP,SNVindel,exonic,SLC26A11,NA,nonsynonymous SNV,"SLC26A11:NM_001166348:exon17:c.C1757T:p.T586I,SLC26A11:NM_001166349:exon17:c.C1757T:p.T586I,SLC26A11:NM_001166347:exon18:c.C1757T:p.T586I,SLC26A11:NM_173626:exon18:c.C1757T:p.T586I",T,N,N,D,N,T
chr17,78318666,78318666,C,T,R010_S,RNF213,Silent,NM_001256071,exon29,c.C6531T,p.N2177N,SNP,SNVindel,exonic,RNF213,NA,synonymous SNV,RNF213:NM_001256071:exon29:c.C6531T:p.N2177N,NA,NA,NA,NA,NA,NA
chr17,78395750,78395750,C,T,R010_S,ENDOV,Silent,NM_001352760,exon3,c.C351T,p.G117G,SNP,SNVindel,exonic,ENDOV,NA,synonymous SNV,"ENDOV:NM_001352760:exon3:c.C351T:p.G117G,ENDOV:NM_001352761:exon3:c.C351T:p.G117G,ENDOV:NM_173627:exon3:c.C351T:p.G117G",NA,NA,NA,NA,NA,NA
chr17,78857697,78857697,C,T,R010_S,RPTOR,Silent,NM_020761,exon16,c.C1767T,p.D589D,SNP,SNVindel,exonic,RPTOR,NA,synonymous SNV,RPTOR:NM_020761:exon16:c.C1767T:p.D589D,NA,NA,NA,NA,NA,NA
chr17,79095316,79095316,G,A,R010_S,AATK,Missense_Mutation,NM_004920,exon10,c.C2111T,p.A704V,SNP,SNVindel,exonic,AATK,NA,nonsynonymous SNV,"AATK:NM_004920:exon10:c.C2111T:p.A704V,AATK:NM_001080395:exon11:c.C2420T:p.A807V",D,U,N,T,N,T
chr17,79168719,79168719,C,T,R010_S,CEP131,Silent,NM_001009811,exon17,c.G2070A,p.E690E,SNP,SNVindel,exonic,CEP131,NA,synonymous SNV,"CEP131:NM_001009811:exon17:c.G2070A:p.E690E,CEP131:NM_001319228:exon17:c.G2079A:p.E693E,CEP131:NM_001319229:exon17:c.G2079A:p.E693E,CEP131:NM_014984:exon17:c.G2070A:p.E690E",NA,NA,NA,NA,NA,NA
chr17,79827646,79827646,G,A,R010_S,ARHGDIA,Missense_Mutation,NM_001185077,exon2,c.C161T,p.A54V,SNP,SNVindel,exonic,ARHGDIA,NA,nonsynonymous SNV,"ARHGDIA:NM_001185077:exon2:c.C161T:p.A54V,ARHGDIA:NM_001185078:exon2:c.C161T:p.A54V,ARHGDIA:NM_001301240:exon2:c.C161T:p.A54V,ARHGDIA:NM_001301241:exon2:c.C161T:p.A54V,ARHGDIA:NM_001301242:exon2:c.C161T:p.A54V,ARHGDIA:NM_001301243:exon2:c.C161T:p.A54V,ARHGDIA:NM_004309:exon2:c.C161T:p.A54V",T,D,D,.,N,T
chr17,79866792,79866792,C,T,R010_S,PCYT2,Silent,NM_001184917,exon3,c.G300A,p.E100E,SNP,SNVindel,exonic,PCYT2,NA,synonymous SNV,"PCYT2:NM_001184917:exon3:c.G300A:p.E100E,PCYT2:NM_001256434:exon3:c.G123A:p.E41E,PCYT2:NM_001256435:exon3:c.G66A:p.E22E,PCYT2:NM_001282203:exon3:c.G66A:p.E22E,PCYT2:NM_001282204:exon3:c.G204A:p.E68E,PCYT2:NM_001330518:exon3:c.G300A:p.E100E,PCYT2:NM_002861:exon3:c.G300A:p.E100E",NA,NA,NA,NA,NA,NA
chr17,79880578,79880578,C,T,R010_S,MAFG,Missense_Mutation,NM_002359,exon3,c.G392A,p.G131D,SNP,SNVindel,exonic,MAFG,NA,nonsynonymous SNV,"MAFG:NM_002359:exon3:c.G392A:p.G131D,MAFG:NM_032711:exon3:c.G392A:p.G131D",D,D,D,D,N,D
chr17,79880580,79880580,C,T,R010_S,MAFG,Silent,NM_002359,exon3,c.G390A,p.R130R,SNP,SNVindel,exonic,MAFG,NA,synonymous SNV,"MAFG:NM_002359:exon3:c.G390A:p.R130R,MAFG:NM_032711:exon3:c.G390A:p.R130R",NA,NA,NA,NA,NA,NA
chr17,79935542,79935542,G,A,R010_S,ASPSCR1,Missense_Mutation,NM_001251888,exon1,c.G20A,p.G7D,SNP,SNVindel,exonic,ASPSCR1,NA,nonsynonymous SNV,"ASPSCR1:NM_001251888:exon1:c.G20A:p.G7D,ASPSCR1:NM_024083:exon1:c.G20A:p.G7D",D,N,D,T,N,T
chr17,79982165,79982165,C,T,R010_S,LRRC45,Silent,NM_144999,exon2,c.C232T,p.L78L,SNP,SNVindel,exonic,LRRC45,NA,synonymous SNV,LRRC45:NM_144999:exon2:c.C232T:p.L78L,NA,NA,NA,NA,NA,NA
chr17,79982605,79982605,G,A,R010_S,LRRC45,Missense_Mutation,NM_144999,exon3,c.G319A,p.G107R,SNP,SNVindel,exonic,LRRC45,NA,nonsynonymous SNV,LRRC45:NM_144999:exon3:c.G319A:p.G107R,D,N,D,T,D,T
chr17,79991459,79991459,C,T,R010_S,RAC3,Silent,NM_001316307,exon5,c.C432T,p.A144A,SNP,SNVindel,exonic,RAC3,NA,synonymous SNV,"RAC3:NM_001316307:exon5:c.C432T:p.A144A,RAC3:NM_005052:exon5:c.C432T:p.A144A",NA,NA,NA,NA,NA,NA
chr17,80016014,80016014,C,T,R010_S,DUS1L,Missense_Mutation,NM_022156,exon14,c.G1399A,p.V467I,SNP,SNVindel,exonic,DUS1L,NA,nonsynonymous SNV,DUS1L:NM_022156:exon14:c.G1399A:p.V467I,T,N,N,T,N,T
chr17,80196694,80196694,C,T,R010_S,SLC16A3,Missense_Mutation,NM_001042422,exon5,c.C1240T,p.P414S,SNP,SNVindel,exonic,SLC16A3,NA,nonsynonymous SNV,"SLC16A3:NM_001042422:exon5:c.C1240T:p.P414S,SLC16A3:NM_001042423:exon5:c.C1240T:p.P414S,SLC16A3:NM_001206950:exon5:c.C1240T:p.P414S,SLC16A3:NM_001206951:exon5:c.C1240T:p.P414S,SLC16A3:NM_001206952:exon5:c.C1240T:p.P414S,SLC16A3:NM_004207:exon5:c.C1240T:p.P414S",T,U,N,T,N,T
chr17,80559333,80559333,C,T,R010_S,FOXK2,Silent,NM_004514,exon9,c.C1941T,p.D647D,SNP,SNVindel,exonic,FOXK2,NA,synonymous SNV,FOXK2:NM_004514:exon9:c.C1941T:p.D647D,NA,NA,NA,NA,NA,NA
chr17,80828200,80828200,C,T,R010_S,TBCD,Silent,NM_005993,exon14,c.C1419T,p.A473A,SNP,SNVindel,exonic,TBCD,NA,synonymous SNV,TBCD:NM_005993:exon14:c.C1419T:p.A473A,NA,NA,NA,NA,NA,NA
chr17,80918956,80918956,C,T,R010_S,B3GNTL1,Silent,NM_001320743,exon4,c.G168A,p.Q56Q,SNP,SNVindel,exonic,B3GNTL1,NA,synonymous SNV,"B3GNTL1:NM_001320743:exon4:c.G168A:p.Q56Q,B3GNTL1:NM_001009905:exon8:c.G702A:p.Q234Q,B3GNTL1:NM_001320742:exon9:c.G660A:p.Q220Q",NA,NA,NA,NA,NA,NA
chr18,210430,210430,C,T,R010_S,USP14,Silent,NM_001037334,exon14,c.C1165T,p.L389L,SNP,SNVindel,exonic,USP14,NA,synonymous SNV,"USP14:NM_001037334:exon14:c.C1165T:p.L389L,USP14:NM_005151:exon15:c.C1270T:p.L424L",NA,NA,NA,NA,NA,NA
chr18,480744,480744,C,T,R010_S,COLEC12,Silent,NM_130386,exon2,c.G21A,p.E7E,SNP,SNVindel,exonic,COLEC12,NA,synonymous SNV,COLEC12:NM_130386:exon2:c.G21A:p.E7E,NA,NA,NA,NA,NA,NA
chr18,662295,662295,G,A,R010_S,TYMS,Silent,NM_001071,exon3,c.G429A,p.G143G,SNP,SNVindel,exonic,TYMS,NA,synonymous SNV,"TYMS:NM_001071:exon3:c.G429A:p.G143G,TYMS:NM_001354867:exon3:c.G429A:p.G143G",NA,NA,NA,NA,NA,NA
chr18,712490,712490,G,A,R010_S,ENOSF1,Missense_Mutation,NM_001354067,exon1,c.C98T,p.A33V,SNP,SNVindel,exonic,ENOSF1,NA,nonsynonymous SNV,"ENOSF1:NM_001354067:exon1:c.C98T:p.A33V,ENOSF1:NM_001354068:exon1:c.C98T:p.A33V,ENOSF1:NM_202758:exon1:c.C98T:p.A33V",D,.,N,T,N,T
chr18,2599158,2599158,G,A,R010_S,NDC80,Silent,NM_006101,exon12,c.G1362A,p.R454R,SNP,SNVindel,exonic,NDC80,NA,synonymous SNV,NDC80:NM_006101:exon12:c.G1362A:p.R454R,NA,NA,NA,NA,NA,NA
chr18,2706398,2706398,C,T,R010_S,SMCHD1,Missense_Mutation,NM_015295,exon15,c.C1993T,p.P665S,SNP,SNVindel,exonic,SMCHD1,NA,nonsynonymous SNV,SMCHD1:NM_015295:exon15:c.C1993T:p.P665S,D,D,D,T,D,T
chr18,5291810,5291810,G,A,R010_S,ZBTB14,Missense_Mutation,NM_003409,exon3,c.C397T,p.P133S,SNP,SNVindel,exonic,ZBTB14,NA,nonsynonymous SNV,"ZBTB14:NM_003409:exon3:c.C397T:p.P133S,ZBTB14:NM_001143823:exon4:c.C397T:p.P133S,ZBTB14:NM_001243702:exon4:c.C397T:p.P133S,ZBTB14:NM_001243704:exon4:c.C397T:p.P133S",D,N,D,T,N,T
chr18,8825263,8825263,G,A,R010_S,MTCL1,Missense_Mutation,NM_015210,exon15,c.G3755A,p.G1252E,SNP,SNVindel,exonic,MTCL1,NA,nonsynonymous SNV,MTCL1:NM_015210:exon15:c.G3755A:p.G1252E,D,N,N,T,D,T
chr18,9195605,9195605,G,A,R010_S,ANKRD12,Silent,NM_001083625,exon3,c.G144A,p.V48V,SNP,SNVindel,exonic,ANKRD12,NA,synonymous SNV,"ANKRD12:NM_001083625:exon3:c.G144A:p.V48V,ANKRD12:NM_001204056:exon3:c.G144A:p.V48V,ANKRD12:NM_015208:exon3:c.G144A:p.V48V",NA,NA,NA,NA,NA,NA
chr18,9211610,9211610,A,G,R010_S,ANKRD12,Silent,NM_001083625,exon5,c.A411G,p.T137T,SNP,SNVindel,exonic,ANKRD12,NA,synonymous SNV,"ANKRD12:NM_001083625:exon5:c.A411G:p.T137T,ANKRD12:NM_001204056:exon5:c.A411G:p.T137T,ANKRD12:NM_015208:exon6:c.A480G:p.T160T",NA,NA,NA,NA,NA,NA
chr18,9525817,9525817,C,T,R010_S,RALBP1,Missense_Mutation,NM_006788,exon6,c.C1315T,p.L439F,SNP,SNVindel,exonic,RALBP1,NA,nonsynonymous SNV,RALBP1:NM_006788:exon6:c.C1315T:p.L439F,D,D,D,T,D,T
chr18,9570181,9570181,G,A,R010_S,PPP4R1,Missense_Mutation,NM_001042388,exon11,c.C1547T,p.P516L,SNP,SNVindel,exonic,PPP4R1,NA,nonsynonymous SNV,"PPP4R1:NM_001042388:exon11:c.C1547T:p.P516L,PPP4R1:NM_005134:exon11:c.C1496T:p.P499L",D,D,D,T,D,T
chr18,9814048,9814048,G,A,R010_S,RAB31,Missense_Mutation,NM_006868,exon4,c.G233A,p.G78D,SNP,SNVindel,exonic,RAB31,NA,nonsynonymous SNV,RAB31:NM_006868:exon4:c.G233A:p.G78D,.,D,D,T,.,T
chr18,9945011,9945011,G,A,R010_S,VAPA,Missense_Mutation,NM_003574,exon5,c.G508A,p.D170N,SNP,SNVindel,exonic,VAPA,NA,nonsynonymous SNV,VAPA:NM_003574:exon5:c.G508A:p.D170N,T,N,D,T,N,T
chr18,10698978,10698978,G,A,R010_S,PIEZO2,Silent,NM_022068,exon40,c.C6300T,p.G2100G,SNP,SNVindel,exonic,PIEZO2,NA,synonymous SNV,PIEZO2:NM_022068:exon40:c.C6300T:p.G2100G,NA,NA,NA,NA,NA,NA
chr18,11981753,11981753,C,T,R010_S,IMPA2,Missense_Mutation,NM_014214,exon1,c.C85T,p.R29W,SNP,SNVindel,exonic,IMPA2,NA,nonsynonymous SNV,IMPA2:NM_014214:exon1:c.C85T:p.R29W,D,D,D,T,D,T
chr18,12985247,12985247,G,A,R010_S,SEH1L,Missense_Mutation,NM_031216,exon9,c.G1079A,p.S360N,SNP,SNVindel,exonic,SEH1L,NA,nonsynonymous SNV,SEH1L:NM_031216:exon9:c.G1079A:p.S360N,D,.,D,T,N,T
chr18,13048882,13048882,C,T,R010_S,CEP192,Missense_Mutation,NM_032142,exon16,c.C2092T,p.P698S,SNP,SNVindel,exonic,CEP192,NA,nonsynonymous SNV,CEP192:NM_032142:exon16:c.C2092T:p.P698S,T,N,N,T,N,T
chr18,13666618,13666618,G,A,R010_S,FAM210A,Missense_Mutation,NM_152352,exon4,c.C680T,p.P227L,SNP,SNVindel,exonic,FAM210A,NA,nonsynonymous SNV,"FAM210A:NM_152352:exon4:c.C680T:p.P227L,FAM210A:NM_001098801:exon5:c.C680T:p.P227L",T,D,D,T,D,T
chr18,19996453,19996453,C,T,R010_S,CTAGE1,Missense_Mutation,NM_172241,exon1,c.G1322A,p.R441K,SNP,SNVindel,exonic,CTAGE1,NA,nonsynonymous SNV,CTAGE1:NM_172241:exon1:c.G1322A:p.R441K,D,.,N,T,N,T
chr18,21485504,21485504,C,T,R010_S,LAMA3,Silent,NM_001127718,exon14,c.C1639T,p.L547L,SNP,SNVindel,exonic,LAMA3,NA,synonymous SNV,"LAMA3:NM_001127718:exon14:c.C1639T:p.L547L,LAMA3:NM_000227:exon15:c.C1807T:p.L603L,LAMA3:NM_001127717:exon51:c.C6466T:p.L2156L,LAMA3:NM_198129:exon52:c.C6634T:p.L2212L",NA,NA,NA,NA,NA,NA
chr18,28923494,28923494,C,G,R010_S,DSG1,Nonsense_Mutation,NM_001942,exon12,c.C1769G,p.S590X,SNP,SNVindel,exonic,DSG1,NA,stopgain,DSG1:NM_001942:exon12:c.C1769G:p.S590X,.,N,A,.,.,.
chr18,29038561,29038561,C,T,R010_S,DSG3,Silent,NM_001944,exon4,c.C370T,p.L124L,SNP,SNVindel,exonic,DSG3,NA,synonymous SNV,DSG3:NM_001944:exon4:c.C370T:p.L124L,NA,NA,NA,NA,NA,NA
chr18,29511400,29511400,G,A,R010_S,TRAPPC8,Missense_Mutation,NM_014939,exon2,c.C244T,p.P82S,SNP,SNVindel,exonic,TRAPPC8,NA,nonsynonymous SNV,TRAPPC8:NM_014939:exon2:c.C244T:p.P82S,T,N,D,T,N,T
chr18,31323204,31323204,C,T,R010_S,ASXL3,Missense_Mutation,NM_030632,exon12,c.C3392T,p.P1131L,SNP,SNVindel,exonic,ASXL3,NA,nonsynonymous SNV,ASXL3:NM_030632:exon12:c.C3392T:p.P1131L,D,U,N,T,N,T
chr18,31325099,31325099,G,A,R010_S,ASXL3,Missense_Mutation,NM_030632,exon12,c.G5287A,p.V1763M,SNP,SNVindel,exonic,ASXL3,NA,nonsynonymous SNV,ASXL3:NM_030632:exon12:c.G5287A:p.V1763M,D,.,D,T,N,T
chr18,32917364,32917364,C,T,R010_S,ZNF24,Silent,NM_006965,exon4,c.G939A,p.G313G,SNP,SNVindel,exonic,ZNF24,NA,synonymous SNV,ZNF24:NM_006965:exon4:c.G939A:p.G313G,NA,NA,NA,NA,NA,NA
chr18,32954017,32954017,C,T,R010_S,ZNF396,Nonsense_Mutation,NM_001322286,exon2,c.G240A,p.W80X,SNP,SNVindel,exonic,ZNF396,NA,stopgain,"ZNF396:NM_001322286:exon2:c.G240A:p.W80X,ZNF396:NM_001322291:exon2:c.G240A:p.W80X,ZNF396:NM_145756:exon2:c.G240A:p.W80X,ZNF396:NM_001322290:exon3:c.G240A:p.W80X",.,U,A,.,.,.
chr18,34415197,34415197,G,A,R010_S,KIAA1328,Missense_Mutation,NM_001353918,exon3,c.G95A,p.G32E,SNP,SNVindel,exonic,KIAA1328,NA,nonsynonymous SNV,"KIAA1328:NM_001353918:exon3:c.G95A:p.G32E,KIAA1328:NM_020776:exon3:c.G95A:p.G32E",D,D,D,T,D,T
chr18,40853684,40853684,G,A,R010_S,SYT4,Missense_Mutation,NM_020783,exon2,c.C710T,p.A237V,SNP,SNVindel,exonic,SYT4,NA,nonsynonymous SNV,SYT4:NM_020783:exon2:c.C710T:p.A237V,T,N,D,T,N,T
chr18,40854220,40854220,C,T,R010_S,SYT4,Silent,NM_020783,exon2,c.G174A,p.K58K,SNP,SNVindel,exonic,SYT4,NA,synonymous SNV,SYT4:NM_020783:exon2:c.G174A:p.K58K,NA,NA,NA,NA,NA,NA
chr18,42456570,42456570,G,A,R010_S,SETBP1,Missense_Mutation,NM_001130110,exon4,c.G581A,p.G194E,SNP,SNVindel,exonic,SETBP1,NA,nonsynonymous SNV,SETBP1:NM_001130110:exon4:c.G581A:p.G194E,T,.,N,.,N,T
chr18,42533242,42533242,G,A,R010_S,SETBP1,Missense_Mutation,NM_015559,exon4,c.G3937A,p.D1313N,SNP,SNVindel,exonic,SETBP1,NA,nonsynonymous SNV,SETBP1:NM_015559:exon4:c.G3937A:p.D1313N,D,D,D,T,N,T
chr18,43532371,43532371,C,T,R010_S,EPG5,Missense_Mutation,NM_020964,exon3,c.G1247A,p.G416D,SNP,SNVindel,exonic,EPG5,NA,nonsynonymous SNV,EPG5:NM_020964:exon3:c.G1247A:p.G416D,T,N,N,T,N,T
chr18,43534964,43534964,G,A,R010_S,EPG5,Missense_Mutation,NM_020964,exon2,c.C404T,p.P135L,SNP,SNVindel,exonic,EPG5,NA,nonsynonymous SNV,EPG5:NM_020964:exon2:c.C404T:p.P135L,T,N,N,T,N,T
chr18,43796549,43796549,G,A,R010_S,C18orf25,Missense_Mutation,NM_001008239,exon2,c.G703A,p.A235T,SNP,SNVindel,exonic,C18orf25,NA,nonsynonymous SNV,"C18orf25:NM_001008239:exon2:c.G703A:p.A235T,C18orf25:NM_145055:exon2:c.G703A:p.A235T",.,D,D,.,.,T
chr18,44101085,44101085,G,A,R010_S,LOXHD1,Missense_Mutation,NM_001308013,exon13,c.C1625T,p.A542V,SNP,SNVindel,exonic,LOXHD1,NA,nonsynonymous SNV,"LOXHD1:NM_001308013:exon13:c.C1625T:p.A542V,LOXHD1:NM_001145472:exon15:c.C1913T:p.A638V",T,.,D,T,N,T
chr18,45371808,45371808,C,T,R010_S,SMAD2,Missense_Mutation,NM_001135937,exon9,c.G1093A,p.A365T,SNP,SNVindel,exonic,SMAD2,NA,nonsynonymous SNV,"SMAD2:NM_001135937:exon9:c.G1093A:p.A365T,SMAD2:NM_001003652:exon10:c.G1183A:p.A395T,SMAD2:NM_005901:exon10:c.G1183A:p.A395T",T,D,D,D,N,D
chr18,45374862,45374862,C,T,R010_S,SMAD2,Missense_Mutation,NM_001135937,exon7,c.G891A,p.M297I,SNP,SNVindel,exonic,SMAD2,NA,nonsynonymous SNV,"SMAD2:NM_001135937:exon7:c.G891A:p.M297I,SMAD2:NM_001003652:exon8:c.G981A:p.M327I,SMAD2:NM_005901:exon8:c.G981A:p.M327I",T,D,D,D,N,D
chr18,45566843,45566843,C,T,R010_S,ZBTB7C,Silent,NM_001039360,exon2,c.G636A,p.Q212Q,SNP,SNVindel,exonic,ZBTB7C,NA,synonymous SNV,"ZBTB7C:NM_001039360:exon2:c.G636A:p.Q212Q,ZBTB7C:NM_001318841:exon4:c.G636A:p.Q212Q,ZBTB7C:NM_001371286:exon4:c.G636A:p.Q212Q,ZBTB7C:NM_001371288:exon4:c.G636A:p.Q212Q,ZBTB7C:NM_001371285:exon5:c.G636A:p.Q212Q,ZBTB7C:NM_001371287:exon5:c.G636A:p.Q212Q,ZBTB7C:NM_001371284:exon6:c.G636A:p.Q212Q,ZBTB7C:NM_001371291:exon6:c.G636A:p.Q212Q,ZBTB7C:NM_001371290:exon9:c.G636A:p.Q212Q",NA,NA,NA,NA,NA,NA
chr18,47010021,47010021,C,T,R010_S,C18orf32,Missense_Mutation,NM_001035005,exon2,c.G98A,p.S33N,SNP,SNVindel,exonic,C18orf32;RPL17-C18orf32,NA,nonsynonymous SNV,"C18orf32:NM_001035005:exon2:c.G98A:p.S33N,C18orf32:NM_001199346:exon2:c.G98A:p.S33N,RPL17-C18orf32:NM_001199356:exon5:c.G514A:p.V172I,RPL17-C18orf32:NM_001199355:exon6:c.G628A:p.V210I",T,U,N,T,N,T
chr18,47363171,47363171,G,A,R010_S,MYO5B,Silent,NM_001080467,exon38,c.C5223T,p.I1741I,SNP,SNVindel,exonic,MYO5B,NA,synonymous SNV,MYO5B:NM_001080467:exon38:c.C5223T:p.I1741I,NA,NA,NA,NA,NA,NA
chr18,47788588,47788588,C,T,R010_S,CFAP53,Missense_Mutation,NM_145020,exon2,c.G71A,p.R24K,SNP,SNVindel,exonic,CFAP53,NA,nonsynonymous SNV,CFAP53:NM_145020:exon2:c.G71A:p.R24K,T,U,D,T,N,T
chr18,48190515,48190515,C,T,R010_S,MAPK4,Missense_Mutation,NM_001292040,exon2,c.C187T,p.L63F,SNP,SNVindel,exonic,MAPK4,NA,nonsynonymous SNV,"MAPK4:NM_001292040:exon2:c.C187T:p.L63F,MAPK4:NM_002747:exon2:c.C187T:p.L63F",D,D,D,T,D,T
chr18,51692536,51692536,G,A,R010_S,MBD2,Missense_Mutation,NM_003927,exon4,c.C841T,p.L281F,SNP,SNVindel,exonic,MBD2,NA,nonsynonymous SNV,MBD2:NM_003927:exon4:c.C841T:p.L281F,D,D,D,D,D,D
chr18,54424107,54424107,T,C,R010_S,WDR7,Silent,NM_015285,exon15,c.T2283C,p.D761D,SNP,SNVindel,exonic,WDR7,NA,synonymous SNV,"WDR7:NM_015285:exon15:c.T2283C:p.D761D,WDR7:NM_052834:exon15:c.T2283C:p.D761D",NA,NA,NA,NA,NA,NA
chr18,55315819,55315819,G,A,R010_S,ATP8B1,Silent,NM_005603,exon28,c.C3657T,p.D1219D,SNP,SNVindel,exonic,ATP8B1,NA,synonymous SNV,ATP8B1:NM_005603:exon28:c.C3657T:p.D1219D,NA,NA,NA,NA,NA,NA
chr18,55996301,55996301,G,A,R010_S,NEDD4L,Missense_Mutation,NM_001144966,exon9,c.G392A,p.R131H,SNP,SNVindel,exonic,NEDD4L,NA,nonsynonymous SNV,"NEDD4L:NM_001144966:exon9:c.G392A:p.R131H,NEDD4L:NM_001144970:exon9:c.G392A:p.R131H,NEDD4L:NM_001144964:exon10:c.G392A:p.R131H,NEDD4L:NM_001144965:exon10:c.G392A:p.R131H,NEDD4L:NM_001144967:exon10:c.G755A:p.R252H,NEDD4L:NM_001144968:exon10:c.G731A:p.R244H,NEDD4L:NM_001144969:exon10:c.G731A:p.R244H,NEDD4L:NM_001243960:exon10:c.G755A:p.R252H,NEDD4L:NM_015277:exon10:c.G755A:p.R252H,NEDD4L:NM_001144971:exon11:c.G392A:p.R131H",D,D,D,T,D,T
chr18,56024463,56024463,G,A,R010_S,NEDD4L,Silent,NM_001144970,exon17,c.G1323A,p.Q441Q,SNP,SNVindel,exonic,NEDD4L,NA,synonymous SNV,"NEDD4L:NM_001144970:exon17:c.G1323A:p.Q441Q,NEDD4L:NM_001243960:exon17:c.G1554A:p.Q518Q,NEDD4L:NM_001144966:exon18:c.G1383A:p.Q461Q,NEDD4L:NM_001144969:exon18:c.G1662A:p.Q554Q,NEDD4L:NM_015277:exon18:c.G1686A:p.Q562Q,NEDD4L:NM_001144964:exon19:c.G1383A:p.Q461Q,NEDD4L:NM_001144965:exon19:c.G1383A:p.Q461Q,NEDD4L:NM_001144967:exon19:c.G1746A:p.Q582Q,NEDD4L:NM_001144968:exon19:c.G1722A:p.Q574Q,NEDD4L:NM_001144971:exon19:c.G1323A:p.Q441Q",NA,NA,NA,NA,NA,NA
chr18,56035041,56035041,C,T,R010_S,NEDD4L,Silent,NM_001144970,exon20,c.C1704T,p.Y568Y,SNP,SNVindel,exonic,NEDD4L,NA,synonymous SNV,"NEDD4L:NM_001144970:exon20:c.C1704T:p.Y568Y,NEDD4L:NM_001243960:exon20:c.C1935T:p.Y645Y,NEDD4L:NM_001144966:exon21:c.C1764T:p.Y588Y,NEDD4L:NM_001144969:exon21:c.C2043T:p.Y681Y,NEDD4L:NM_015277:exon21:c.C2067T:p.Y689Y,NEDD4L:NM_001144964:exon22:c.C1764T:p.Y588Y,NEDD4L:NM_001144965:exon22:c.C1764T:p.Y588Y,NEDD4L:NM_001144967:exon22:c.C2127T:p.Y709Y,NEDD4L:NM_001144968:exon22:c.C2103T:p.Y701Y,NEDD4L:NM_001144971:exon22:c.C1704T:p.Y568Y",NA,NA,NA,NA,NA,NA
chr18,56586764,56586764,C,T,R010_S,ZNF532,Silent,NM_001318726,exon3,c.C1245T,p.V415V,SNP,SNVindel,exonic,ZNF532,NA,synonymous SNV,"ZNF532:NM_001318726:exon3:c.C1245T:p.V415V,ZNF532:NM_001318727:exon3:c.C1245T:p.V415V,ZNF532:NM_001353525:exon3:c.C1245T:p.V415V,ZNF532:NM_001353528:exon3:c.C1245T:p.V415V,ZNF532:NM_001353529:exon3:c.C1245T:p.V415V,ZNF532:NM_001353532:exon3:c.C1245T:p.V415V,ZNF532:NM_001353533:exon3:c.C1245T:p.V415V,ZNF532:NM_001353534:exon3:c.C1245T:p.V415V,ZNF532:NM_001353535:exon3:c.C1245T:p.V415V,ZNF532:NM_001353536:exon3:c.C1245T:p.V415V,ZNF532:NM_001353537:exon3:c.C1245T:p.V415V,ZNF532:NM_001353538:exon3:c.C1245T:p.V415V,ZNF532:NM_001318728:exon4:c.C1245T:p.V415V,ZNF532:NM_001353526:exon4:c.C1245T:p.V415V,ZNF532:NM_001353527:exon4:c.C1245T:p.V415V,ZNF532:NM_001353530:exon4:c.C1245T:p.V415V,ZNF532:NM_001353531:exon4:c.C1245T:p.V415V,ZNF532:NM_018181:exon4:c.C1245T:p.V415V",NA,NA,NA,NA,NA,NA
chr18,59757735,59757735,G,A,R010_S,PIGN,Nonsense_Mutation,NM_012327,exon23,c.C2257T,p.Q753X,SNP,SNVindel,exonic,PIGN,NA,stopgain,"PIGN:NM_012327:exon23:c.C2257T:p.Q753X,PIGN:NM_176787:exon24:c.C2257T:p.Q753X",.,N,A,.,.,.
chr18,59854947,59854947,G,A,R010_S,RELCH,Missense_Mutation,NM_001346229,exon1,c.G209A,p.G70E,SNP,SNVindel,exonic,RELCH,NA,nonsynonymous SNV,"RELCH:NM_001346229:exon1:c.G209A:p.G70E,RELCH:NM_001346230:exon1:c.G209A:p.G70E,RELCH:NM_001346231:exon1:c.G209A:p.G70E,RELCH:NM_001346233:exon1:c.G209A:p.G70E,RELCH:NM_001346234:exon1:c.G209A:p.G70E,RELCH:NM_020854:exon1:c.G209A:p.G70E",D,U,N,T,N,T
chr18,60191522,60191522,G,A,R010_S,ZCCHC2,Missense_Mutation,NM_017742,exon1,c.G865A,p.A289T,SNP,SNVindel,exonic,ZCCHC2,NA,nonsynonymous SNV,ZCCHC2:NM_017742:exon1:c.G865A:p.A289T,T,N,N,T,N,T
chr18,65181141,65181141,C,T,R010_S,DSEL,Silent,NM_032160,exon2,c.G705A,p.G235G,SNP,SNVindel,exonic,DSEL,NA,synonymous SNV,DSEL:NM_032160:exon2:c.G705A:p.G235G,NA,NA,NA,NA,NA,NA
chr18,66504241,66504241,G,A,R010_S,CCDC102B,Missense_Mutation,NM_024781,exon2,c.G241A,p.V81I,SNP,SNVindel,exonic,CCDC102B,NA,nonsynonymous SNV,"CCDC102B:NM_024781:exon2:c.G241A:p.V81I,CCDC102B:NM_001093729:exon4:c.G241A:p.V81I",T,N,N,T,N,T
chr18,67068515,67068515,G,A,R010_S,DOK6,Missense_Mutation,NM_152721,exon1,c.G35A,p.G12D,SNP,SNVindel,exonic,DOK6,NA,nonsynonymous SNV,DOK6:NM_152721:exon1:c.G35A:p.G12D,D,N,D,D,D,D
chr18,67365730,67365730,G,T,R010_S,DOK6,Missense_Mutation,NM_152721,exon5,c.G500T,p.W167L,SNP,SNVindel,exonic,DOK6,NA,nonsynonymous SNV,DOK6:NM_152721:exon5:c.G500T:p.W167L,T,D,D,T,D,T
chr18,67365784,67365784,G,A,R010_S,DOK6,Missense_Mutation,NM_152721,exon5,c.G554A,p.R185K,SNP,SNVindel,exonic,DOK6,NA,nonsynonymous SNV,DOK6:NM_152721:exon5:c.G554A:p.R185K,D,D,D,D,D,D
chr18,67795747,67795747,G,A,R010_S,RTTN,Missense_Mutation,NM_001318520,exon23,c.C254T,p.A85V,SNP,SNVindel,exonic,RTTN,NA,nonsynonymous SNV,"RTTN:NM_001318520:exon23:c.C254T:p.A85V,RTTN:NM_173630:exon24:c.C2990T:p.A997V",T,D,D,T,N,T
chr18,67864876,67864876,C,T,R010_S,RTTN,Missense_Mutation,NM_173630,exon6,c.G677A,p.R226K,SNP,SNVindel,exonic,RTTN,NA,nonsynonymous SNV,RTTN:NM_173630:exon6:c.G677A:p.R226K,D,D,D,T,N,T
chr18,72913675,72913675,G,A,R010_S,ZADH2,Missense_Mutation,NM_001306093,exon2,c.C461T,p.T154I,SNP,SNVindel,exonic,ZADH2,NA,nonsynonymous SNV,"ZADH2:NM_001306093:exon2:c.C461T:p.T154I,ZADH2:NM_175907:exon2:c.C830T:p.T277I",D,N,N,T,N,T
chr18,72913756,72913756,C,T,R010_S,ZADH2,Missense_Mutation,NM_001306093,exon2,c.G380A,p.G127E,SNP,SNVindel,exonic,ZADH2,NA,nonsynonymous SNV,"ZADH2:NM_001306093:exon2:c.G380A:p.G127E,ZADH2:NM_175907:exon2:c.G749A:p.G250E",D,D,D,T,D,D
chr18,74208402,74208402,C,T,R010_S,C18orf65,Silent,NM_001272093,exon2,c.C246T,p.L82L,SNP,SNVindel,exonic,C18orf65,NA,synonymous SNV,C18orf65:NM_001272093:exon2:c.C246T:p.L82L,NA,NA,NA,NA,NA,NA
chr18,74611006,74611006,C,T,R010_S,ZNF236,Silent,NM_001306089,exon11,c.C1722T,p.D574D,SNP,SNVindel,exonic,ZNF236,NA,synonymous SNV,"ZNF236:NM_001306089:exon11:c.C1722T:p.D574D,ZNF236:NM_007345:exon11:c.C1716T:p.D572D",NA,NA,NA,NA,NA,NA
chr18,74963049,74963049,G,A,R010_S,GALR1,Missense_Mutation,NM_001480,exon1,c.G545A,p.S182N,SNP,SNVindel,exonic,GALR1,NA,nonsynonymous SNV,GALR1:NM_001480:exon1:c.G545A:p.S182N,T,N,D,T,N,T
chr18,76755351,76755351,G,A,R010_S,SALL3,Silent,NM_171999,exon2,c.G3360A,p.K1120K,SNP,SNVindel,exonic,SALL3,NA,synonymous SNV,SALL3:NM_171999:exon2:c.G3360A:p.K1120K,NA,NA,NA,NA,NA,NA
chr18,77208953,77208953,C,T,R010_S,NFATC1,Missense_Mutation,NM_001278673,exon3,c.C142T,p.P48S,SNP,SNVindel,exonic,NFATC1,NA,nonsynonymous SNV,"NFATC1:NM_001278673:exon3:c.C142T:p.P48S,NFATC1:NM_172388:exon3:c.C142T:p.P48S,NFATC1:NM_001278669:exon4:c.C1558T:p.P520S,NFATC1:NM_001278670:exon4:c.C1558T:p.P520S,NFATC1:NM_001278672:exon4:c.C1519T:p.P507S,NFATC1:NM_001278675:exon4:c.C1519T:p.P507S,NFATC1:NM_006162:exon4:c.C1558T:p.P520S,NFATC1:NM_172387:exon4:c.C1519T:p.P507S,NFATC1:NM_172389:exon4:c.C1519T:p.P507S,NFATC1:NM_172390:exon4:c.C1558T:p.P520S",D,D,D,T,D,T
chr18,77477867,77477867,C,T,R010_S,CTDP1,Silent,NM_001202504,exon10,c.C1911T,p.F637F,SNP,SNVindel,exonic,CTDP1,NA,synonymous SNV,"CTDP1:NM_001202504:exon10:c.C1911T:p.F637F,CTDP1:NM_001318511:exon10:c.C2268T:p.F756F,CTDP1:NM_004715:exon10:c.C2268T:p.F756F,CTDP1:NM_048368:exon10:c.C2268T:p.F756F",NA,NA,NA,NA,NA,NA
chr18,77918128,77918128,C,T,R010_S,PARD6G,Silent,NM_032510,exon3,c.G657A,p.V219V,SNP,SNVindel,exonic,PARD6G,NA,synonymous SNV,PARD6G:NM_032510:exon3:c.G657A:p.V219V,NA,NA,NA,NA,NA,NA
chr18,77918335,77918335,G,A,R010_S,PARD6G,Silent,NM_032510,exon3,c.C450T,p.D150D,SNP,SNVindel,exonic,PARD6G,NA,synonymous SNV,PARD6G:NM_032510:exon3:c.C450T:p.D150D,NA,NA,NA,NA,NA,NA
chr18,77960593,77960593,C,T,R010_S,PARD6G,Missense_Mutation,NM_032510,exon2,c.G295A,p.E99K,SNP,SNVindel,exonic,PARD6G,NA,nonsynonymous SNV,PARD6G:NM_032510:exon2:c.G295A:p.E99K,T,D,D,T,N,T
chr19,407393,407393,C,T,R010_S,C2CD4C,Silent,NM_001136263,exon2,c.G969A,p.R323R,SNP,SNVindel,exonic,C2CD4C,NA,synonymous SNV,C2CD4C:NM_001136263:exon2:c.G969A:p.R323R,NA,NA,NA,NA,NA,NA
chr19,407400,407400,C,T,R010_S,C2CD4C,Missense_Mutation,NM_001136263,exon2,c.G962A,p.R321H,SNP,SNVindel,exonic,C2CD4C,NA,nonsynonymous SNV,C2CD4C:NM_001136263:exon2:c.G962A:p.R321H,D,U,D,T,D,D
chr19,537146,537146,C,T,R010_S,CDC34,Missense_Mutation,NM_004359,exon4,c.C496T,p.R166W,SNP,SNVindel,exonic,CDC34,NA,nonsynonymous SNV,CDC34:NM_004359:exon4:c.C496T:p.R166W,D,D,D,T,D,T
chr19,619218,619218,C,T,R010_S,POLRMT,Missense_Mutation,NM_005035,exon14,c.G3145A,p.A1049T,SNP,SNVindel,exonic,POLRMT,NA,nonsynonymous SNV,POLRMT:NM_005035:exon14:c.G3145A:p.A1049T,.,N,D,.,.,T
chr19,855733,855733,C,T,R010_S,ELANE,Missense_Mutation,NM_001972,exon4,c.C536T,p.S179F,SNP,SNVindel,exonic,ELANE,NA,nonsynonymous SNV,ELANE:NM_001972:exon4:c.C536T:p.S179F,T,U,N,D,N,T
chr19,920553,920553,C,T,R010_S,KISS1R,Silent,NM_032551,exon5,c.C1002T,p.F334F,SNP,SNVindel,exonic,KISS1R,NA,synonymous SNV,KISS1R:NM_032551:exon5:c.C1002T:p.F334F,NA,NA,NA,NA,NA,NA
chr19,1005381,1005381,C,T,R010_S,GRIN3B,Silent,NM_138690,exon3,c.C1881T,p.L627L,SNP,SNVindel,exonic,GRIN3B,NA,synonymous SNV,GRIN3B:NM_138690:exon3:c.C1881T:p.L627L,NA,NA,NA,NA,NA,NA
chr19,1042104,1042104,G,A,R010_S,ABCA7,Missense_Mutation,NM_019112,exon5,c.G344A,p.G115E,SNP,SNVindel,exonic,ABCA7,NA,nonsynonymous SNV,ABCA7:NM_019112:exon5:c.G344A:p.G115E,T,.,N,D,N,D
chr19,1068570,1068570,C,T,R010_S,ARHGAP45,Missense_Mutation,NM_001258328,exon2,c.C296T,p.A99V,SNP,SNVindel,exonic,ARHGAP45,NA,nonsynonymous SNV,"ARHGAP45:NM_001258328:exon2:c.C296T:p.A99V,ARHGAP45:NM_001321232:exon2:c.C260T:p.A87V,ARHGAP45:NM_012292:exon2:c.C248T:p.A83V",D,N,N,T,N,T
chr19,1079702,1079702,G,A,R010_S,ARHGAP45,Missense_Mutation,NM_001282334,exon2,c.G280A,p.A94T,SNP,SNVindel,exonic,ARHGAP45,NA,nonsynonymous SNV,"ARHGAP45:NM_001282334:exon2:c.G280A:p.A94T,ARHGAP45:NM_001282335:exon11:c.G1024A:p.A342T,ARHGAP45:NM_001258328:exon12:c.G1423A:p.A475T,ARHGAP45:NM_001321232:exon12:c.G1387A:p.A463T,ARHGAP45:NM_012292:exon12:c.G1375A:p.A459T",D,U,D,T,D,T
chr19,1254403,1254403,C,T,R010_S,MIDN,Missense_Mutation,NM_177401,exon5,c.C622T,p.P208S,SNP,SNVindel,exonic,MIDN,NA,nonsynonymous SNV,MIDN:NM_177401:exon5:c.C622T:p.P208S,T,N,D,.,N,T
chr19,1453488,1453488,C,T,R010_S,APC2,Silent,NM_001351273,exon3,c.C291T,p.G97G,SNP,SNVindel,exonic,APC2,NA,synonymous SNV,"APC2:NM_001351273:exon3:c.C291T:p.G97G,APC2:NM_005883:exon4:c.C291T:p.G97G",NA,NA,NA,NA,NA,NA
chr19,1567483,1567483,G,A,R010_S,MEX3D,Missense_Mutation,NM_001174118,exon1,c.C575T,p.A192V,SNP,SNVindel,exonic,MEX3D,NA,nonsynonymous SNV,"MEX3D:NM_001174118:exon1:c.C575T:p.A192V,MEX3D:NM_203304:exon1:c.C575T:p.A192V",D,U,D,T,D,T
chr19,1584633,1584633,G,A,R010_S,MBD3,Missense_Mutation,NM_001281453,exon3,c.C314T,p.A105V,SNP,SNVindel,exonic,MBD3,NA,nonsynonymous SNV,"MBD3:NM_001281453:exon3:c.C314T:p.A105V,MBD3:NM_001281454:exon3:c.C218T:p.A73V",.,D,D,T,.,D
chr19,1615790,1615790,G,A,R010_S,TCF3,Missense_Mutation,NM_001136139,exon17,c.C1481T,p.A494V,SNP,SNVindel,exonic,TCF3,NA,nonsynonymous SNV,"TCF3:NM_001136139:exon17:c.C1481T:p.A494V,TCF3:NM_001351778:exon17:c.C1478T:p.A493V,TCF3:NM_001351779:exon17:c.C1481T:p.A494V,TCF3:NM_003200:exon17:c.C1481T:p.A494V",T,N,N,T,N,T
chr19,1789589,1789589,C,T,R010_S,ATP8B3,Silent,NM_001178002,exon23,c.G2505A,p.R835R,SNP,SNVindel,exonic,ATP8B3,NA,synonymous SNV,"ATP8B3:NM_001178002:exon23:c.G2505A:p.R835R,ATP8B3:NM_138813:exon23:c.G2616A:p.R872R",NA,NA,NA,NA,NA,NA
chr19,1800062,1800062,C,T,R010_S,ATP8B3,Missense_Mutation,NM_001178002,exon14,c.G1295A,p.S432N,SNP,SNVindel,exonic,ATP8B3,NA,nonsynonymous SNV,"ATP8B3:NM_001178002:exon14:c.G1295A:p.S432N,ATP8B3:NM_138813:exon14:c.G1436A:p.S479N",D,D,N,D,N,T
chr19,1828309,1828309,C,T,R010_S,REXO1,Missense_Mutation,NM_020695,exon2,c.G479A,p.S160N,SNP,SNVindel,exonic,REXO1,NA,nonsynonymous SNV,REXO1:NM_020695:exon2:c.G479A:p.S160N,T,N,N,T,N,T
chr19,1848263,1848263,C,T,R010_S,REXO1,Missense_Mutation,NM_020695,exon1,c.G95A,p.R32Q,SNP,SNVindel,exonic,REXO1,NA,nonsynonymous SNV,REXO1:NM_020695:exon1:c.G95A:p.R32Q,D,U,D,T,N,T
chr19,2116242,2116242,G,A,R010_S,AP3D1,Silent,NM_001261826,exon18,c.C2037T,p.N679N,SNP,SNVindel,exonic,AP3D1,NA,synonymous SNV,"AP3D1:NM_001261826:exon18:c.C2037T:p.N679N,AP3D1:NM_003938:exon18:c.C2037T:p.N679N",NA,NA,NA,NA,NA,NA
chr19,2194522,2194522,C,T,R010_S,DOT1L,Silent,NM_032482,exon7,c.C597T,p.D199D,SNP,SNVindel,exonic,DOT1L,NA,synonymous SNV,DOT1L:NM_032482:exon7:c.C597T:p.D199D,NA,NA,NA,NA,NA,NA
chr19,2290540,2290540,C,T,R010_S,LINGO3,Silent,NM_001101391,exon2,c.G1236A,p.R412R,SNP,SNVindel,exonic,LINGO3,NA,synonymous SNV,LINGO3:NM_001101391:exon2:c.G1236A:p.R412R,NA,NA,NA,NA,NA,NA
chr19,3061255,3061255,C,T,R010_S,TLE5,Missense_Mutation,NM_001130,exon2,c.G28A,p.G10S,SNP,SNVindel,exonic,TLE5,NA,nonsynonymous SNV,"TLE5:NM_001130:exon2:c.G28A:p.G10S,TLE5:NM_198969:exon2:c.G229A:p.G77S,TLE5:NM_198970:exon2:c.G28A:p.G10S",T,U,D,T,N,T
chr19,3286016,3286016,G,A,R010_S,CELF5,Silent,NM_001172673,exon10,c.G1104A,p.Q368Q,SNP,SNVindel,exonic,CELF5,NA,synonymous SNV,"CELF5:NM_001172673:exon10:c.G1104A:p.Q368Q,CELF5:NM_021938:exon10:c.G1179A:p.Q393Q",NA,NA,NA,NA,NA,NA
chr19,3452588,3452588,C,T,R010_S,NFIC,Missense_Mutation,NM_001245002,exon8,c.C1193T,p.P398L,SNP,SNVindel,exonic,NFIC,NA,nonsynonymous SNV,"NFIC:NM_001245002:exon8:c.C1193T:p.P398L,NFIC:NM_001245004:exon8:c.C1193T:p.P398L,NFIC:NM_001245005:exon8:c.C1166T:p.P389L,NFIC:NM_005597:exon8:c.C1193T:p.P398L,NFIC:NM_205843:exon8:c.C1166T:p.P389L",D,D,D,T,D,T
chr19,3523015,3523015,C,T,R010_S,FZR1,Missense_Mutation,NM_001136197,exon1,c.C28T,p.L10F,SNP,SNVindel,exonic,FZR1,NA,nonsynonymous SNV,"FZR1:NM_001136197:exon1:c.C28T:p.L10F,FZR1:NM_001136198:exon1:c.C28T:p.L10F,FZR1:NM_016263:exon2:c.C28T:p.L10F",D,D,D,T,N,T
chr19,3624039,3624039,C,T,R010_S,CACTIN,Missense_Mutation,NM_001080543,exon2,c.G289A,p.G97S,SNP,SNVindel,exonic,CACTIN,NA,nonsynonymous SNV,"CACTIN:NM_001080543:exon2:c.G289A:p.G97S,CACTIN:NM_021231:exon2:c.G289A:p.G97S",T,U,N,.,N,T
chr19,3738929,3738929,C,T,R010_S,TJP3,Silent,NM_001267560,exon13,c.C1428T,p.D476D,SNP,SNVindel,exonic,TJP3,NA,synonymous SNV,"TJP3:NM_001267560:exon13:c.C1428T:p.D476D,TJP3:NM_001267561:exon13:c.C1455T:p.D485D",NA,NA,NA,NA,NA,NA
chr19,3885814,3885814,G,A,R010_S,ATCAY,Missense_Mutation,NM_033064,exon2,c.G49A,p.E17K,SNP,SNVindel,exonic,ATCAY,NA,nonsynonymous SNV,ATCAY:NM_033064:exon2:c.G49A:p.E17K,D,D,D,T,N,T
chr19,3964307,3964307,C,T,R010_S,DAPK3,Missense_Mutation,NM_001348,exon4,c.G488A,p.G163D,SNP,SNVindel,exonic,DAPK3,NA,nonsynonymous SNV,DAPK3:NM_001348:exon4:c.G488A:p.G163D,D,D,D,D,D,D
chr19,3977298,3977298,C,T,R010_S,EEF2,Silent,NM_001961,exon14,c.G2298A,p.K766K,SNP,SNVindel,exonic,EEF2,NA,synonymous SNV,EEF2:NM_001961:exon14:c.G2298A:p.K766K,NA,NA,NA,NA,NA,NA
chr19,3981417,3981417,C,T,R010_S,EEF2,Missense_Mutation,NM_001961,exon7,c.G931A,p.E311K,SNP,SNVindel,exonic,EEF2,NA,nonsynonymous SNV,EEF2:NM_001961:exon7:c.G931A:p.E311K,T,D,D,T,N,T
chr19,4013116,4013116,C,T,R010_S,PIAS4,Missense_Mutation,NM_015897,exon2,c.C223T,p.P75S,SNP,SNVindel,exonic,PIAS4,NA,nonsynonymous SNV,PIAS4:NM_015897:exon2:c.C223T:p.P75S,T,N,N,T,N,T
chr19,4219632,4219632,C,T,R010_S,ANKRD24,Silent,NM_133475,exon19,c.C3048T,p.A1016A,SNP,SNVindel,exonic,ANKRD24,NA,synonymous SNV,ANKRD24:NM_133475:exon19:c.C3048T:p.A1016A,NA,NA,NA,NA,NA,NA
chr19,4432026,4432026,G,A,R010_S,CHAF1A,Silent,NM_005483,exon12,c.G2025A,p.G675G,SNP,SNVindel,exonic,CHAF1A,NA,synonymous SNV,CHAF1A:NM_005483:exon12:c.G2025A:p.G675G,NA,NA,NA,NA,NA,NA
chr19,4544094,4544094,G,A,R010_S,SEMA6B,Missense_Mutation,NM_032108,exon17,c.C2186T,p.A729V,SNP,SNVindel,exonic,SEMA6B,NA,nonsynonymous SNV,SEMA6B:NM_032108:exon17:c.C2186T:p.A729V,.,U,D,T,.,T
chr19,4703980,4703980,G,A,R010_S,DPP9,Silent,NM_001365987,exon7,c.C687T,p.F229F,SNP,SNVindel,exonic,DPP9,NA,synonymous SNV,"DPP9:NM_001365987:exon7:c.C687T:p.F229F,DPP9:NM_139159:exon7:c.C687T:p.F229F",NA,NA,NA,NA,NA,NA
chr19,5144069,5144069,C,T,R010_S,KDM4B,Missense_Mutation,NM_015015,exon19,c.C2642T,p.T881I,SNP,SNVindel,exonic,KDM4B,NA,nonsynonymous SNV,KDM4B:NM_015015:exon19:c.C2642T:p.T881I,D,D,D,T,D,T
chr19,5244178,5244178,G,A,R010_S,PTPRS,Missense_Mutation,NM_130853,exon8,c.C1265T,p.A422V,SNP,SNVindel,exonic,PTPRS,NA,nonsynonymous SNV,"PTPRS:NM_130853:exon8:c.C1265T:p.A422V,PTPRS:NM_130854:exon8:c.C1265T:p.A422V,PTPRS:NM_130855:exon9:c.C1277T:p.A426V,PTPRS:NM_002850:exon11:c.C1304T:p.A435V",T,U,D,T,D,T
chr19,5455778,5455778,C,T,R010_S,ZNRF4,Silent,NM_181710,exon1,c.C276T,p.L92L,SNP,SNVindel,exonic,ZNRF4,NA,synonymous SNV,ZNRF4:NM_181710:exon1:c.C276T:p.L92L,NA,NA,NA,NA,NA,NA
chr19,5713216,5713216,C,T,R010_S,LONP1,Silent,NM_004793,exon3,c.G567A,p.G189G,SNP,SNVindel,exonic,LONP1,NA,synonymous SNV,"LONP1:NM_004793:exon3:c.G567A:p.G189G,LONP1:NM_001276479:exon4:c.G375A:p.G125G",NA,NA,NA,NA,NA,NA
chr19,5783674,5783674,G,A,R010_S,PRR22,Missense_Mutation,NM_001134316,exon3,c.C584T,p.P195L,SNP,SNVindel,exonic,PRR22,NA,nonsynonymous SNV,PRR22:NM_001134316:exon3:c.C584T:p.P195L,D,.,N,T,D,T
chr19,6001860,6001860,C,T,R010_S,RFX2,Missense_Mutation,NM_134433,exon14,c.G1750A,p.A584T,SNP,SNVindel,exonic,RFX2,NA,nonsynonymous SNV,"RFX2:NM_134433:exon14:c.G1750A:p.A584T,RFX2:NM_000635:exon15:c.G1825A:p.A609T",D,D,D,T,D,T
chr19,6374903,6374903,C,T,R010_S,ALKBH7,Silent,NM_032306,exon4,c.C585T,p.G195G,SNP,SNVindel,exonic,ALKBH7,NA,synonymous SNV,ALKBH7:NM_032306:exon4:c.C585T:p.G195G,NA,NA,NA,NA,NA,NA
chr19,6375430,6375430,C,T,R010_S,PSPN,Missense_Mutation,NM_004158,exon2,c.G346A,p.G116S,SNP,SNVindel,exonic,PSPN,NA,nonsynonymous SNV,PSPN:NM_004158:exon2:c.G346A:p.G116S,D,N,D,D,N,D
chr19,6381836,6381836,C,T,R010_S,GTF2F1,Silent,NM_002096,exon7,c.G708A,p.K236K,SNP,SNVindel,exonic,GTF2F1,NA,synonymous SNV,GTF2F1:NM_002096:exon7:c.G708A:p.K236K,NA,NA,NA,NA,NA,NA
chr19,6495819,6495819,C,T,R010_S,TUBB4A,Missense_Mutation,NM_001289130,exon4,c.G475A,p.A159T,SNP,SNVindel,exonic,TUBB4A,NA,nonsynonymous SNV,"TUBB4A:NM_001289130:exon4:c.G475A:p.A159T,TUBB4A:NM_001289131:exon4:c.G475A:p.A159T,TUBB4A:NM_006087:exon4:c.G691A:p.A231T,TUBB4A:NM_001289123:exon5:c.G844A:p.A282T,TUBB4A:NM_001289127:exon5:c.G826A:p.A276T,TUBB4A:NM_001289129:exon5:c.G691A:p.A231T",.,D,D,T,N,T
chr19,7075713,7075713,G,A,R010_S,ZNF557,Missense_Mutation,NM_001044387,exon4,c.G79A,p.G27S,SNP,SNVindel,exonic,ZNF557,NA,nonsynonymous SNV,"ZNF557:NM_001044387:exon4:c.G79A:p.G27S,ZNF557:NM_001044388:exon4:c.G58A:p.G20S,ZNF557:NM_024341:exon4:c.G79A:p.G27S",T,.,N,T,N,T
chr19,7141699,7141699,A,G,R010_S,INSR,Missense_Mutation,NM_001079817,exon12,c.T2635C,p.Y879H,SNP,SNVindel,exonic,INSR,NA,nonsynonymous SNV,"INSR:NM_001079817:exon12:c.T2635C:p.Y879H,INSR:NM_000208:exon13:c.T2671C:p.Y891H",T,U,N,T,N,T
chr19,7505135,7505135,G,A,R010_S,ARHGEF18,Silent,NM_001130955,exon1,c.G147A,p.V49V,SNP,SNVindel,exonic,ARHGEF18,NA,synonymous SNV,ARHGEF18:NM_001130955:exon1:c.G147A:p.V49V,NA,NA,NA,NA,NA,NA
chr19,7505266,7505266,C,T,R010_S,ARHGEF18,Missense_Mutation,NM_001130955,exon1,c.C278T,p.S93F,SNP,SNVindel,exonic,ARHGEF18,NA,nonsynonymous SNV,"ARHGEF18:NM_001130955:exon1:c.C278T:p.S93F,ARHGEF18:NM_001367823:exon11:c.C1004T:p.S335F",D,N,D,T,N,T
chr19,7606946,7606946,C,T,R010_S,PNPLA6,Silent,NM_001166114,exon10,c.C1245T,p.D415D,SNP,SNVindel,exonic,PNPLA6,NA,synonymous SNV,"PNPLA6:NM_001166114:exon10:c.C1245T:p.D415D,PNPLA6:NM_001166111:exon12:c.C1272T:p.D424D,PNPLA6:NM_001166112:exon13:c.C1128T:p.D376D,PNPLA6:NM_001166113:exon13:c.C1128T:p.D376D,PNPLA6:NM_006702:exon13:c.C1128T:p.D376D",NA,NA,NA,NA,NA,NA
chr19,7935649,7935649,G,A,R010_S,PRR36,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PRR36,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,8160947,8160947,G,A,R010_S,FBN3,Missense_Mutation,NM_001321431,exon45,c.C5557T,p.R1853W,SNP,SNVindel,exonic,FBN3,NA,nonsynonymous SNV,"FBN3:NM_001321431:exon45:c.C5557T:p.R1853W,FBN3:NM_032447:exon45:c.C5557T:p.R1853W",D,U,D,D,D,D
chr19,8197882,8197882,C,T,R010_S,FBN3,Missense_Mutation,NM_001321431,exon14,c.G1700A,p.G567D,SNP,SNVindel,exonic,FBN3,NA,nonsynonymous SNV,"FBN3:NM_001321431:exon14:c.G1700A:p.G567D,FBN3:NM_032447:exon14:c.G1700A:p.G567D",D,U,D,D,D,D
chr19,8212320,8212320,C,T,R010_S,FBN3,Silent,NM_001321431,exon2,c.G45A,p.R15R,SNP,SNVindel,exonic,FBN3,NA,synonymous SNV,"FBN3:NM_001321431:exon2:c.G45A:p.R15R,FBN3:NM_032447:exon2:c.G45A:p.R15R",NA,NA,NA,NA,NA,NA
chr19,8316067,8316067,C,T,R010_S,CERS4,Missense_Mutation,NM_024552,exon3,c.C107T,p.P36L,SNP,SNVindel,exonic,CERS4,NA,nonsynonymous SNV,CERS4:NM_024552:exon3:c.C107T:p.P36L,D,D,D,T,D,T
chr19,8381437,8381437,G,A,R010_S,NDUFA7,Missense_Mutation,NM_005001,exon3,c.C194T,p.P65L,SNP,SNVindel,exonic,NDUFA7,NA,nonsynonymous SNV,NDUFA7:NM_005001:exon3:c.C194T:p.P65L,D,D,D,T,D,T
chr19,8400242,8400242,C,T,R010_S,KANK3,Missense_Mutation,NM_198471,exon3,c.G469A,p.V157I,SNP,SNVindel,exonic,KANK3,NA,nonsynonymous SNV,KANK3:NM_198471:exon3:c.G469A:p.V157I,T,.,N,T,N,T
chr19,8562654,8562654,C,T,R010_S,PRAM1,Missense_Mutation,NM_032152,exon4,c.G1570A,p.G524S,SNP,SNVindel,exonic,PRAM1,NA,nonsynonymous SNV,PRAM1:NM_032152:exon4:c.G1570A:p.G524S,T,.,N,T,N,T
chr19,9046338,9046338,G,A,R010_S,MUC16,Missense_Mutation,NM_024690,exon5,c.C35293T,p.P11765S,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon5:c.C35293T:p.P11765S,T,.,N,T,D,T
chr19,9061583,9061583,G,A,R010_S,MUC16,Silent,NM_024690,exon3,c.C25863T,p.S8621S,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon3:c.C25863T:p.S8621S,NA,NA,NA,NA,NA,NA
chr19,9071378,9071378,C,T,R010_S,MUC16,Silent,NM_024690,exon3,c.G16068A,p.Q5356Q,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon3:c.G16068A:p.Q5356Q,NA,NA,NA,NA,NA,NA
chr19,9073155,9073155,G,A,R010_S,MUC16,Missense_Mutation,NM_024690,exon3,c.C14291T,p.P4764L,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon3:c.C14291T:p.P4764L,T,.,N,T,N,T
chr19,9083156,9083156,G,A,R010_S,MUC16,Nonsense_Mutation,NM_024690,exon1,c.C8659T,p.Q2887X,SNP,SNVindel,exonic,MUC16,NA,stopgain,MUC16:NM_024690:exon1:c.C8659T:p.Q2887X,.,.,A,.,.,.
chr19,9090944,9090944,G,A,R010_S,MUC16,Missense_Mutation,NM_024690,exon1,c.C871T,p.L291F,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon1:c.C871T:p.L291F,D,.,N,T,N,T
chr19,9526391,9526391,G,A,R010_S,ZNF266,Missense_Mutation,NM_001370390,exon7,c.C143T,p.T48I,SNP,SNVindel,exonic,ZNF266,NA,nonsynonymous SNV,"ZNF266:NM_001370390:exon7:c.C143T:p.T48I,ZNF266:NM_001370379:exon8:c.C143T:p.T48I,ZNF266:NM_001370380:exon8:c.C143T:p.T48I,ZNF266:NM_001370385:exon8:c.C344T:p.T115I,ZNF266:NM_001370388:exon8:c.C143T:p.T48I,ZNF266:NM_001370396:exon8:c.C143T:p.T48I,ZNF266:NM_001370376:exon9:c.C143T:p.T48I,ZNF266:NM_001370381:exon9:c.C143T:p.T48I,ZNF266:NM_001370382:exon9:c.C143T:p.T48I,ZNF266:NM_001370384:exon9:c.C344T:p.T115I,ZNF266:NM_001370389:exon9:c.C143T:p.T48I,ZNF266:NM_001370391:exon9:c.C143T:p.T48I,ZNF266:NM_001370398:exon9:c.C143T:p.T48I,ZNF266:NM_001370399:exon9:c.C143T:p.T48I,ZNF266:NM_001271314:exon10:c.C143T:p.T48I,ZNF266:NM_001370374:exon10:c.C344T:p.T115I,ZNF266:NM_001370375:exon10:c.C344T:p.T115I,ZNF266:NM_001370383:exon10:c.C143T:p.T48I,ZNF266:NM_001370386:exon10:c.C143T:p.T48I,ZNF266:NM_001370387:exon10:c.C143T:p.T48I,ZNF266:NM_001370392:exon10:c.C143T:p.T48I,ZNF266:NM_001370393:exon10:c.C143T:p.T48I,ZNF266:NM_001370394:exon10:c.C143T:p.T48I,ZNF266:NM_001370395:exon10:c.C143T:p.T48I,ZNF266:NM_001370400:exon10:c.C143T:p.T48I,ZNF266:NM_006631:exon10:c.C143T:p.T48I,ZNF266:NM_001370377:exon11:c.C143T:p.T48I,ZNF266:NM_001370378:exon11:c.C143T:p.T48I,ZNF266:NM_001370397:exon11:c.C143T:p.T48I",.,.,N,T,.,T
chr19,10206691,10206691,G,A,R010_S,ANGPTL6,Silent,NM_001321411,exon2,c.C549T,p.R183R,SNP,SNVindel,exonic,ANGPTL6,NA,synonymous SNV,"ANGPTL6:NM_001321411:exon2:c.C549T:p.R183R,ANGPTL6:NM_031917:exon2:c.C549T:p.R183R",NA,NA,NA,NA,NA,NA
chr19,10225063,10225063,C,T,R010_S,P2RY11,Silent,NM_002566,exon2,c.C774T,p.A258A,SNP,SNVindel,exonic,P2RY11;PPAN-P2RY11,NA,synonymous SNV,"P2RY11:NM_002566:exon2:c.C774T:p.A258A,PPAN-P2RY11:NM_001040664:exon13:c.C2034T:p.A678A",NA,NA,NA,NA,NA,NA
chr19,10433389,10433389,G,A,R010_S,RAVER1,Missense_Mutation,NM_001366174,exon6,c.C1105T,p.P369S,SNP,SNVindel,exonic,RAVER1,NA,nonsynonymous SNV,"RAVER1:NM_001366174:exon6:c.C1105T:p.P369S,RAVER1:NM_133452:exon6:c.C1105T:p.P369S",D,D,D,T,D,T
chr19,10602683,10602683,C,T,R010_S,KEAP1,Missense_Mutation,NM_012289,exon3,c.G895A,p.D299N,SNP,SNVindel,exonic,KEAP1,NA,nonsynonymous SNV,"KEAP1:NM_012289:exon3:c.G895A:p.D299N,KEAP1:NM_203500:exon3:c.G895A:p.D299N",D,D,D,T,N,T
chr19,10676446,10676446,G,A,R010_S,KRI1,Nonsense_Mutation,NM_023008,exon2,c.C115T,p.R39X,SNP,SNVindel,exonic,KRI1,NA,stopgain,KRI1:NM_023008:exon2:c.C115T:p.R39X,.,U,A,.,.,.
chr19,10678014,10678014,C,T,R010_S,CDKN2D,Missense_Mutation,NM_001800,exon2,c.G221A,p.G74D,SNP,SNVindel,exonic,CDKN2D,NA,nonsynonymous SNV,"CDKN2D:NM_001800:exon2:c.G221A:p.G74D,CDKN2D:NM_079421:exon3:c.G221A:p.G74D",D,D,D,T,D,D
chr19,10961151,10961151,G,A,R010_S,C19orf38,Missense_Mutation,NM_001136482,exon2,c.G248A,p.G83E,SNP,SNVindel,exonic,C19orf38,NA,nonsynonymous SNV,C19orf38:NM_001136482:exon2:c.G248A:p.G83E,T,U,N,T,D,T
chr19,11304534,11304534,G,A,R010_S,KANK2,Silent,NM_015493,exon2,c.C222T,p.P74P,SNP,SNVindel,exonic,KANK2,NA,synonymous SNV,"KANK2:NM_015493:exon2:c.C222T:p.P74P,KANK2:NM_001329451:exon3:c.C222T:p.P74P,KANK2:NM_001136191:exon4:c.C222T:p.P74P",NA,NA,NA,NA,NA,NA
chr19,11408870,11408870,C,T,R010_S,TSPAN16,Missense_Mutation,NM_001282509,exon2,c.C122T,p.A41V,SNP,SNVindel,exonic,TSPAN16,NA,nonsynonymous SNV,"TSPAN16:NM_001282509:exon2:c.C122T:p.A41V,TSPAN16:NM_001282510:exon2:c.C122T:p.A41V,TSPAN16:NM_012466:exon2:c.C122T:p.A41V",T,N,N,T,N,T
chr19,11916863,11916863,C,T,R010_S,ZNF491,Missense_Mutation,NM_152356,exon3,c.C95T,p.P32L,SNP,SNVindel,exonic,ZNF491,NA,nonsynonymous SNV,ZNF491:NM_152356:exon3:c.C95T:p.P32L,T,.,N,T,D,T
chr19,12016540,12016540,C,T,R010_S,ZNF69,Missense_Mutation,NM_001364730,exon4,c.C1328T,p.P443L,SNP,SNVindel,exonic,ZNF69,NA,nonsynonymous SNV,"ZNF69:NM_001364730:exon4:c.C1328T:p.P443L,ZNF69:NM_001364731:exon4:c.C1286T:p.P429L",D,.,D,T,D,T
chr19,12542466,12542466,A,G,R010_S,ZNF443,Missense_Mutation,NM_005815,exon4,c.T520C,p.C174R,SNP,SNVindel,exonic,ZNF443,NA,nonsynonymous SNV,ZNF443:NM_005815:exon4:c.T520C:p.C174R,D,.,D,D,D,D
chr19,12814268,12814268,G,A,R010_S,TNPO2,Missense_Mutation,NM_001136196,exon19,c.C2183T,p.A728V,SNP,SNVindel,exonic,TNPO2,NA,nonsynonymous SNV,"TNPO2:NM_001136196:exon19:c.C2183T:p.A728V,TNPO2:NM_013433:exon19:c.C2183T:p.A728V,TNPO2:NM_001136195:exon20:c.C2183T:p.A728V",D,D,D,T,D,D
chr19,12981934,12981934,G,A,R010_S,MAST1,Missense_Mutation,NM_014975,exon24,c.G3211A,p.A1071T,SNP,SNVindel,exonic,MAST1,NA,nonsynonymous SNV,MAST1:NM_014975:exon24:c.G3211A:p.A1071T,T,N,N,T,N,T
chr19,13226520,13226520,C,T,R010_S,TRMT1,Missense_Mutation,NM_001142554,exon3,c.G373A,p.E125K,SNP,SNVindel,exonic,TRMT1,NA,nonsynonymous SNV,"TRMT1:NM_001142554:exon3:c.G373A:p.E125K,TRMT1:NM_017722:exon3:c.G373A:p.E125K,TRMT1:NM_001136035:exon4:c.G373A:p.E125K,TRMT1:NM_001351760:exon4:c.G373A:p.E125K,TRMT1:NM_001351761:exon4:c.G265A:p.E89K",T,N,D,.,N,T
chr19,13941566,13941566,C,T,R010_S,ZSWIM4,Missense_Mutation,NM_023072,exon13,c.C2672T,p.P891L,SNP,SNVindel,exonic,ZSWIM4,NA,nonsynonymous SNV,"ZSWIM4:NM_023072:exon13:c.C2672T:p.P891L,ZSWIM4:NM_001367834:exon14:c.C3023T:p.P1008L",D,D,D,T,D,T
chr19,13988574,13988574,G,A,R010_S,NANOS3,Missense_Mutation,NM_001098622,exon1,c.G512A,p.G171E,SNP,SNVindel,exonic,NANOS3,NA,nonsynonymous SNV,NANOS3:NM_001098622:exon1:c.G512A:p.G171E,D,N,N,T,N,T
chr19,14043983,14043983,G,A,R010_S,PODNL1,Silent,NM_001146255,exon6,c.C801T,p.R267R,SNP,SNVindel,exonic,PODNL1,NA,synonymous SNV,"PODNL1:NM_001146255:exon6:c.C801T:p.R267R,PODNL1:NM_001146254:exon8:c.C1068T:p.R356R,PODNL1:NM_001370095:exon8:c.C1074T:p.R358R,PODNL1:NM_024825:exon8:c.C1053T:p.R351R",NA,NA,NA,NA,NA,NA
chr19,14139171,14139171,G,A,R010_S,RLN3,Nonsense_Mutation,NM_001311197,exon1,c.G155A,p.W52X,SNP,SNVindel,exonic,RLN3,NA,stopgain,"RLN3:NM_001311197:exon1:c.G155A:p.W52X,RLN3:NM_080864:exon1:c.G155A:p.W52X",.,D,A,.,.,.
chr19,14159973,14159973,C,T,R010_S,IL27RA,Silent,NM_004843,exon10,c.C1249T,p.L417L,SNP,SNVindel,exonic,IL27RA,NA,synonymous SNV,IL27RA:NM_004843:exon10:c.C1249T:p.L417L,NA,NA,NA,NA,NA,NA
chr19,14165805,14165805,C,T,R010_S,PALM3,Missense_Mutation,NM_001367327,exon5,c.G481A,p.A161T,SNP,SNVindel,exonic,PALM3,NA,nonsynonymous SNV,"PALM3:NM_001367327:exon5:c.G481A:p.A161T,PALM3:NM_001145028:exon7:c.G679A:p.A227T",D,N,N,T,N,T
chr19,14507977,14507977,C,T,R010_S,ADGRE5,Silent,NM_078481,exon6,c.C567T,p.R189R,SNP,SNVindel,exonic,ADGRE5,NA,synonymous SNV,ADGRE5:NM_078481:exon6:c.C567T:p.R189R,NA,NA,NA,NA,NA,NA
chr19,14583474,14583474,C,T,R010_S,PTGER1,Silent,NM_000955,exon3,c.G1107A,p.R369R,SNP,SNVindel,exonic,PTGER1,NA,synonymous SNV,PTGER1:NM_000955:exon3:c.G1107A:p.R369R,NA,NA,NA,NA,NA,NA
chr19,14862464,14862464,G,A,R010_S,ADGRE2,Missense_Mutation,NM_001271052,exon14,c.C1634T,p.A545V,SNP,SNVindel,exonic,ADGRE2,NA,nonsynonymous SNV,"ADGRE2:NM_001271052:exon14:c.C1634T:p.A545V,ADGRE2:NM_013447:exon16:c.C1808T:p.A603V",D,.,D,T,D,T
chr19,14910112,14910112,G,A,R010_S,OR7C1,Silent,NM_198944,exon1,c.C837T,p.T279T,SNP,SNVindel,exonic,OR7C1,NA,synonymous SNV,"OR7C1:NM_198944:exon1:c.C837T:p.T279T,OR7C1:NM_001370485:exon5:c.C987T:p.T329T",NA,NA,NA,NA,NA,NA
chr19,14952034,14952034,G,A,R010_S,OR7A10,Missense_Mutation,NM_001005190,exon1,c.C656T,p.S219F,SNP,SNVindel,exonic,OR7A10,NA,nonsynonymous SNV,OR7A10:NM_001005190:exon1:c.C656T:p.S219F,T,U,N,T,D,T
chr19,15079125,15079125,C,T,R010_S,SLC1A6,Missense_Mutation,NM_005071,exon3,c.G538A,p.D180N,SNP,SNVindel,exonic,SLC1A6,NA,nonsynonymous SNV,"SLC1A6:NM_005071:exon3:c.G538A:p.D180N,SLC1A6:NM_001272088:exon4:c.G538A:p.D180N,SLC1A6:NM_001272087:exon6:c.G538A:p.D180N",D,D,D,T,D,T
chr19,15234197,15234197,G,A,R010_S,ILVBL,Missense_Mutation,NM_006844,exon3,c.C326T,p.A109V,SNP,SNVindel,exonic,ILVBL,NA,nonsynonymous SNV,ILVBL:NM_006844:exon3:c.C326T:p.A109V,D,D,D,T,D,D
chr19,15302887,15302887,C,T,R010_S,NOTCH3,Missense_Mutation,NM_000435,exon4,c.G563A,p.G188D,SNP,SNVindel,exonic,NOTCH3,NA,nonsynonymous SNV,NOTCH3:NM_000435:exon4:c.G563A:p.G188D,D,.,D,D,D,D
chr19,15374234,15374234,G,A,R010_S,BRD4,Silent,NM_001330384,exon7,c.C1338T,p.L446L,SNP,SNVindel,exonic,BRD4,NA,synonymous SNV,"BRD4:NM_001330384:exon7:c.C1338T:p.L446L,BRD4:NM_014299:exon7:c.C1338T:p.L446L,BRD4:NM_058243:exon7:c.C1338T:p.L446L",NA,NA,NA,NA,NA,NA
chr19,15565549,15565549,G,A,R010_S,RASAL3,Missense_Mutation,NM_022904,exon12,c.C1877T,p.A626V,SNP,SNVindel,exonic,RASAL3,NA,nonsynonymous SNV,RASAL3:NM_022904:exon12:c.C1877T:p.A626V,T,U,N,T,N,T
chr19,15566969,15566969,G,A,R010_S,RASAL3,Missense_Mutation,NM_001348027,exon11,c.C1667T,p.A556V,SNP,SNVindel,exonic,RASAL3,NA,nonsynonymous SNV,"RASAL3:NM_001348027:exon11:c.C1667T:p.A556V,RASAL3:NM_001348028:exon11:c.C1649T:p.A550V,RASAL3:NM_022904:exon11:c.C1667T:p.A556V",T,U,N,T,D,T
chr19,15838926,15838926,C,T,R010_S,OR10H2,Silent,NM_013939,exon1,c.C73T,p.L25L,SNP,SNVindel,exonic,OR10H2,NA,synonymous SNV,OR10H2:NM_013939:exon1:c.C73T:p.L25L,NA,NA,NA,NA,NA,NA
chr19,15905594,15905594,C,T,R010_S,OR10H5,Missense_Mutation,NM_001004466,exon1,c.C736T,p.L246F,SNP,SNVindel,exonic,OR10H5,NA,nonsynonymous SNV,OR10H5:NM_001004466:exon1:c.C736T:p.L246F,D,N,N,T,D,T
chr19,16060508,16060508,C,T,R010_S,OR10H4,Missense_Mutation,NM_001004465,exon1,c.C691T,p.P231S,SNP,SNVindel,exonic,OR10H4,NA,nonsynonymous SNV,OR10H4:NM_001004465:exon1:c.C691T:p.P231S,T,U,N,T,D,T
chr19,16236332,16236332,G,A,R010_S,RAB8A,Missense_Mutation,NM_005370,exon4,c.G299A,p.R100Q,SNP,SNVindel,exonic,RAB8A,NA,nonsynonymous SNV,RAB8A:NM_005370:exon4:c.G299A:p.R100Q,T,D,D,T,N,T
chr19,16631216,16631216,C,T,R010_S,CHERP,Silent,NM_006387,exon14,c.G2304A,p.R768R,SNP,SNVindel,exonic,CHERP,NA,synonymous SNV,CHERP:NM_006387:exon14:c.G2304A:p.R768R,NA,NA,NA,NA,NA,NA
chr19,16772095,16772095,C,T,R010_S,TMEM38A,Missense_Mutation,NM_024074,exon1,c.C67T,p.P23S,SNP,SNVindel,exonic,TMEM38A,NA,nonsynonymous SNV,TMEM38A:NM_024074:exon1:c.C67T:p.P23S,D,U,D,.,D,T
chr19,16976313,16976313,G,A,R010_S,SIN3B,Silent,NM_001297597,exon2,c.G246A,p.E82E,SNP,SNVindel,exonic,SIN3B,NA,synonymous SNV,"SIN3B:NM_001297597:exon2:c.G246A:p.E82E,SIN3B:NM_001297595:exon11:c.G1476A:p.E492E,SIN3B:NM_015260:exon12:c.G1572A:p.E524E",NA,NA,NA,NA,NA,NA
chr19,17278846,17278846,C,T,R010_S,MYO9B,Missense_Mutation,NM_001130065,exon11,c.C1765T,p.L589F,SNP,SNVindel,exonic,MYO9B,NA,nonsynonymous SNV,"MYO9B:NM_001130065:exon11:c.C1765T:p.L589F,MYO9B:NM_004145:exon11:c.C1765T:p.L589F",D,D,D,T,D,D
chr19,17346525,17346525,C,T,R010_S,NR2F6,Silent,NM_005234,exon3,c.G723A,p.E241E,SNP,SNVindel,exonic,NR2F6,NA,synonymous SNV,NR2F6:NM_005234:exon3:c.G723A:p.E241E,NA,NA,NA,NA,NA,NA
chr19,17379654,17379654,G,A,R010_S,BABAM1,Silent,NM_001033549,exon2,c.G39A,p.E13E,SNP,SNVindel,exonic,BABAM1,NA,synonymous SNV,"BABAM1:NM_001033549:exon2:c.G39A:p.E13E,BABAM1:NM_001288756:exon2:c.G39A:p.E13E,BABAM1:NM_001288757:exon2:c.G39A:p.E13E,BABAM1:NM_014173:exon2:c.G39A:p.E13E",NA,NA,NA,NA,NA,NA
chr19,17392735,17392735,C,T,R010_S,ANKLE1,Silent,NM_001278443,exon1,c.C6T,p.C2C,SNP,SNVindel,exonic,ANKLE1,NA,synonymous SNV,"ANKLE1:NM_001278443:exon1:c.C6T:p.C2C,ANKLE1:NM_001278444:exon1:c.C6T:p.C2C,ANKLE1:NM_152363:exon1:c.C6T:p.C2C",NA,NA,NA,NA,NA,NA
chr19,17444023,17444023,C,T,R010_S,ANO8,Missense_Mutation,NM_020959,exon4,c.G376A,p.G126S,SNP,SNVindel,exonic,ANO8,NA,nonsynonymous SNV,ANO8:NM_020959:exon4:c.G376A:p.G126S,D,D,D,T,D,T
chr19,17449421,17449421,C,T,R010_S,GTPBP3,Silent,NM_001128855,exon4,c.C462T,p.N154N,SNP,SNVindel,exonic,GTPBP3,NA,synonymous SNV,"GTPBP3:NM_001128855:exon4:c.C462T:p.N154N,GTPBP3:NM_001195422:exon4:c.C528T:p.N176N,GTPBP3:NM_032620:exon4:c.C462T:p.N154N,GTPBP3:NM_133644:exon4:c.C462T:p.N154N",NA,NA,NA,NA,NA,NA
chr19,17679422,17679422,G,A,R010_S,COLGALT1,Silent,NM_024656,exon5,c.G729A,p.R243R,SNP,SNVindel,exonic,COLGALT1,NA,synonymous SNV,COLGALT1:NM_024656:exon5:c.G729A:p.R243R,NA,NA,NA,NA,NA,NA
chr19,17716973,17716973,C,T,R010_S,UNC13A,Missense_Mutation,NM_001080421,exon42,c.G5002A,p.V1668M,SNP,SNVindel,exonic,UNC13A,NA,nonsynonymous SNV,UNC13A:NM_001080421:exon42:c.G5002A:p.V1668M,D,U,D,D,N,T
chr19,17835911,17835911,G,A,R010_S,MAP1S,Silent,NM_001308363,exon4,c.G279A,p.G93G,SNP,SNVindel,exonic,MAP1S,NA,synonymous SNV,"MAP1S:NM_001308363:exon4:c.G279A:p.G93G,MAP1S:NM_018174:exon4:c.G357A:p.G119G",NA,NA,NA,NA,NA,NA
chr19,17835977,17835977,C,T,R010_S,MAP1S,Silent,NM_001308363,exon4,c.C345T,p.L115L,SNP,SNVindel,exonic,MAP1S,NA,synonymous SNV,"MAP1S:NM_001308363:exon4:c.C345T:p.L115L,MAP1S:NM_018174:exon4:c.C423T:p.L141L",NA,NA,NA,NA,NA,NA
chr19,17919000,17919000,C,T,R010_S,B3GNT3,Silent,NM_014256,exon2,c.C384T,p.R128R,SNP,SNVindel,exonic,B3GNT3,NA,synonymous SNV,B3GNT3:NM_014256:exon2:c.C384T:p.R128R,NA,NA,NA,NA,NA,NA
chr19,18239262,18239262,C,T,R010_S,MAST3,Silent,NM_015016,exon11,c.C1044T,p.S348S,SNP,SNVindel,exonic,MAST3,NA,synonymous SNV,MAST3:NM_015016:exon11:c.C1044T:p.S348S,NA,NA,NA,NA,NA,NA
chr19,18497045,18497045,C,T,R010_S,GDF15,Silent,NM_004864,exon1,c.C46T,p.L16L,SNP,SNVindel,exonic,GDF15,NA,synonymous SNV,GDF15:NM_004864:exon1:c.C46T:p.L16L,NA,NA,NA,NA,NA,NA
chr19,18632857,18632857,C,T,R010_S,ELL,Silent,NM_006532,exon1,c.G9A,p.A3A,SNP,SNVindel,exonic,ELL,NA,synonymous SNV,ELL:NM_006532:exon1:c.G9A:p.A3A,NA,NA,NA,NA,NA,NA
chr19,18649046,18649046,G,A,R010_S,FKBP8,Missense_Mutation,NM_001308373,exon5,c.C749T,p.A250V,SNP,SNVindel,exonic,FKBP8,NA,nonsynonymous SNV,"FKBP8:NM_001308373:exon5:c.C749T:p.A250V,FKBP8:NM_012181:exon5:c.C752T:p.A251V",.,D,D,T,.,T
chr19,18700331,18700331,C,T,R010_S,REX1BD,Silent,NM_001100418,exon3,c.C291T,p.F97F,SNP,SNVindel,exonic,REX1BD,NA,synonymous SNV,"REX1BD:NM_001100418:exon3:c.C291T:p.F97F,REX1BD:NM_001100419:exon3:c.C225T:p.F75F",NA,NA,NA,NA,NA,NA
chr19,18779542,18779542,G,A,R010_S,KLHL26,Silent,NM_001345981,exon3,c.G1422A,p.S474S,SNP,SNVindel,exonic,KLHL26,NA,synonymous SNV,"KLHL26:NM_001345981:exon3:c.G1422A:p.S474S,KLHL26:NM_001345983:exon3:c.G1065A:p.S355S,KLHL26:NM_018316:exon3:c.G1335A:p.S445S,KLHL26:NM_001345982:exon4:c.G1302A:p.S434S",NA,NA,NA,NA,NA,NA
chr19,18888133,18888133,C,T,R010_S,CRTC1,Missense_Mutation,NM_015321,exon14,c.C1846T,p.P616S,SNP,SNVindel,exonic,CRTC1,NA,nonsynonymous SNV,"CRTC1:NM_015321:exon14:c.C1846T:p.P616S,CRTC1:NM_001098482:exon15:c.C1894T:p.P632S",T,D,D,T,D,T
chr19,19613187,19613187,C,T,R010_S,GATAD2A,Silent,NM_001359631,exon10,c.C1551T,p.V517V,SNP,SNVindel,exonic,GATAD2A,NA,synonymous SNV,"GATAD2A:NM_001359631:exon10:c.C1551T:p.V517V,GATAD2A:NM_017660:exon11:c.C1623T:p.V541V,GATAD2A:NM_001300946:exon12:c.C1626T:p.V542V",NA,NA,NA,NA,NA,NA
chr19,19748857,19748857,C,T,R010_S,GMIP,Missense_Mutation,NM_001288998,exon10,c.G799A,p.A267T,SNP,SNVindel,exonic,GMIP,NA,nonsynonymous SNV,"GMIP:NM_001288998:exon10:c.G799A:p.A267T,GMIP:NM_001288999:exon10:c.G799A:p.A267T,GMIP:NM_016573:exon10:c.G799A:p.A267T",D,D,D,T,D,T
chr19,23406749,23406749,G,A,R010_S,ZNF724,Silent,NM_001355404,exon4,c.C298T,p.L100L,SNP,SNVindel,exonic,ZNF724,NA,synonymous SNV,"ZNF724:NM_001355404:exon4:c.C298T:p.L100L,ZNF724:NM_001355405:exon4:c.C106T:p.L36L,ZNF724:NM_001355406:exon5:c.C280T:p.L94L",NA,NA,NA,NA,NA,NA
chr19,30164870,30164870,C,T,R010_S,PLEKHF1,Silent,NM_024310,exon2,c.C124T,p.L42L,SNP,SNVindel,exonic,PLEKHF1,NA,synonymous SNV,PLEKHF1:NM_024310:exon2:c.C124T:p.L42L,NA,NA,NA,NA,NA,NA
chr19,33149879,33149879,G,A,R010_S,ANKRD27,Silent,NM_032139,exon2,c.C43T,p.L15L,SNP,SNVindel,exonic,ANKRD27,NA,synonymous SNV,ANKRD27:NM_032139:exon2:c.C43T:p.L15L,NA,NA,NA,NA,NA,NA
chr19,33623303,33623303,C,T,R010_S,WDR88,Silent,NM_173479,exon1,c.C228T,p.H76H,SNP,SNVindel,exonic,WDR88,NA,synonymous SNV,WDR88:NM_173479:exon1:c.C228T:p.H76H,NA,NA,NA,NA,NA,NA
chr19,33878967,33878967,C,T,R010_S,PEPD,Silent,NM_001166056,exon12,c.G1050A,p.E350E,SNP,SNVindel,exonic,PEPD,NA,synonymous SNV,"PEPD:NM_001166056:exon12:c.G1050A:p.E350E,PEPD:NM_001166057:exon12:c.G981A:p.E327E,PEPD:NM_000285:exon14:c.G1173A:p.E391E",NA,NA,NA,NA,NA,NA
chr19,34832354,34832354,C,T,R010_S,KIAA0355,Silent,NM_014686,exon10,c.C1515T,p.I505I,SNP,SNVindel,exonic,KIAA0355,NA,synonymous SNV,KIAA0355:NM_014686:exon10:c.C1515T:p.I505I,NA,NA,NA,NA,NA,NA
chr19,34868779,34868779,C,T,R010_S,GPI,Missense_Mutation,NM_001289790,exon5,c.C542T,p.A181V,SNP,SNVindel,exonic,GPI,NA,nonsynonymous SNV,"GPI:NM_001289790:exon5:c.C542T:p.A181V,GPI:NM_000175:exon6:c.C626T:p.A209V,GPI:NM_001184722:exon6:c.C659T:p.A220V,GPI:NM_001329911:exon6:c.C626T:p.A209V,GPI:NM_001289789:exon7:c.C743T:p.A248V,GPI:NM_001329909:exon7:c.C626T:p.A209V,GPI:NM_001329910:exon7:c.C626T:p.A209V",D,D,D,D,D,D
chr19,34884927,34884927,C,T,R010_S,GPI,Missense_Mutation,NM_001289790,exon11,c.C934T,p.P312S,SNP,SNVindel,exonic,GPI,NA,nonsynonymous SNV,"GPI:NM_001289790:exon11:c.C934T:p.P312S,GPI:NM_000175:exon12:c.C1018T:p.P340S,GPI:NM_001184722:exon12:c.C1051T:p.P351S,GPI:NM_001329911:exon12:c.C1018T:p.P340S,GPI:NM_001289789:exon13:c.C1135T:p.P379S,GPI:NM_001329909:exon13:c.C1018T:p.P340S,GPI:NM_001329910:exon13:c.C1018T:p.P340S",D,D,D,D,D,D
chr19,35556242,35556242,G,A,R010_S,HPN,Silent,NM_182983,exon10,c.G900A,p.Q300Q,SNP,SNVindel,exonic,HPN,NA,synonymous SNV,"HPN:NM_182983:exon10:c.G900A:p.Q300Q,HPN:NM_002151:exon11:c.G900A:p.Q300Q",NA,NA,NA,NA,NA,NA
chr19,35803193,35803193,G,A,R010_S,MAG,Missense_Mutation,NM_080600,exon11,c.G1726A,p.V576I,SNP,SNVindel,exonic,MAG,NA,nonsynonymous SNV,MAG:NM_080600:exon11:c.G1726A:p.V576I,D,.,D,T,N,T
chr19,36018917,36018917,C,T,R010_S,SBSN,Silent,NM_001166034,exon1,c.G267A,p.G89G,SNP,SNVindel,exonic,SBSN,NA,synonymous SNV,"SBSN:NM_001166034:exon1:c.G267A:p.G89G,SBSN:NM_001166035:exon1:c.G267A:p.G89G,SBSN:NM_198538:exon1:c.G267A:p.G89G",NA,NA,NA,NA,NA,NA
chr19,36043996,36043996,C,T,R010_S,ATP4A,Silent,NM_000704,exon18,c.G2694A,p.R898R,SNP,SNVindel,exonic,ATP4A,NA,synonymous SNV,ATP4A:NM_000704:exon18:c.G2694A:p.R898R,NA,NA,NA,NA,NA,NA
chr19,36207553,36207553,C,T,R010_S,ZBTB32,Missense_Mutation,NM_001316903,exon6,c.C367T,p.L123F,SNP,SNVindel,exonic,ZBTB32,NA,nonsynonymous SNV,"ZBTB32:NM_001316903:exon6:c.C367T:p.L123F,ZBTB32:NM_001316902:exon7:c.C532T:p.L178F,ZBTB32:NM_014383:exon7:c.C1363T:p.L455F",D,N,D,T,N,T
chr19,36211568,36211568,C,T,R010_S,KMT2B,Missense_Mutation,NM_014727,exon3,c.C1319T,p.P440L,SNP,SNVindel,exonic,KMT2B,NA,nonsynonymous SNV,KMT2B:NM_014727:exon3:c.C1319T:p.P440L,D,.,N,D,N,T
chr19,36211790,36211790,C,T,R010_S,KMT2B,Missense_Mutation,NM_014727,exon3,c.C1541T,p.A514V,SNP,SNVindel,exonic,KMT2B,NA,nonsynonymous SNV,KMT2B:NM_014727:exon3:c.C1541T:p.A514V,T,N,N,D,N,T
chr19,36216679,36216679,C,T,R010_S,KMT2B,Missense_Mutation,NM_014727,exon13,c.C3845T,p.P1282L,SNP,SNVindel,exonic,KMT2B,NA,nonsynonymous SNV,KMT2B:NM_014727:exon13:c.C3845T:p.P1282L,D,D,D,D,D,D
chr19,36727750,36727750,C,T,R010_S,ZNF146,Silent,NM_001099638,exon3,c.C408T,p.T136T,SNP,SNVindel,exonic,ZNF146,NA,synonymous SNV,"ZNF146:NM_001099638:exon3:c.C408T:p.T136T,ZNF146:NM_001099639:exon3:c.C408T:p.T136T,ZNF146:NM_007145:exon4:c.C408T:p.T136T",NA,NA,NA,NA,NA,NA
chr19,37441557,37441557,C,T,R010_S,ZNF568,Missense_Mutation,NM_001204837,exon5,c.C1310T,p.P437L,SNP,SNVindel,exonic,ZNF568,NA,nonsynonymous SNV,"ZNF568:NM_001204837:exon5:c.C1310T:p.P437L,ZNF568:NM_001204836:exon6:c.C1310T:p.P437L,ZNF568:NM_001204835:exon7:c.C1499T:p.P500L,ZNF568:NM_198539:exon7:c.C1502T:p.P501L",D,N,D,T,D,T
chr19,37677019,37677019,C,T,R010_S,ZNF585B,Missense_Mutation,NM_152279,exon5,c.G1420A,p.A474T,SNP,SNVindel,exonic,ZNF585B,NA,nonsynonymous SNV,ZNF585B:NM_152279:exon5:c.G1420A:p.A474T,T,N,N,T,N,T
chr19,38188992,38188992,C,T,R010_S,ZNF607,Silent,NM_001172677,exon5,c.G2037A,p.R679R,SNP,SNVindel,exonic,ZNF607,NA,synonymous SNV,"ZNF607:NM_001172677:exon5:c.G2037A:p.R679R,ZNF607:NM_032689:exon5:c.G2040A:p.R680R",NA,NA,NA,NA,NA,NA
chr19,38190506,38190506,C,T,R010_S,ZNF607,Missense_Mutation,NM_001172677,exon5,c.G523A,p.G175R,SNP,SNVindel,exonic,ZNF607,NA,nonsynonymous SNV,"ZNF607:NM_001172677:exon5:c.G523A:p.G175R,ZNF607:NM_032689:exon5:c.G526A:p.G176R",D,.,N,T,D,T
chr19,38230728,38230728,C,T,R010_S,ZNF573,Silent,NM_001172692,exon4,c.G399A,p.R133R,SNP,SNVindel,exonic,ZNF573,NA,synonymous SNV,"ZNF573:NM_001172692:exon4:c.G399A:p.R133R,ZNF573:NM_001172690:exon5:c.G663A:p.R221R,ZNF573:NM_001172691:exon5:c.G657A:p.R219R,ZNF573:NM_001172689:exon6:c.G399A:p.R133R,ZNF573:NM_152360:exon8:c.G489A:p.R163R",NA,NA,NA,NA,NA,NA
chr19,38379673,38379673,C,T,R010_S,WDR87,Silent,NM_001291088,exon6,c.G4638A,p.E1546E,SNP,SNVindel,exonic,WDR87,NA,synonymous SNV,"WDR87:NM_001291088:exon6:c.G4638A:p.E1546E,WDR87:NM_031951:exon6:c.G4521A:p.E1507E",NA,NA,NA,NA,NA,NA
chr19,39096824,39096824,G,A,R010_S,MAP4K1,Missense_Mutation,NM_001042600,exon17,c.C1189T,p.L397F,SNP,SNVindel,exonic,MAP4K1,NA,nonsynonymous SNV,"MAP4K1:NM_001042600:exon17:c.C1189T:p.L397F,MAP4K1:NM_007181:exon17:c.C1189T:p.L397F",T,N,D,T,N,T
chr19,39232517,39232517,C,T,R010_S,CAPN12,Missense_Mutation,NM_144691,exon4,c.G460A,p.V154M,SNP,SNVindel,exonic,CAPN12,NA,nonsynonymous SNV,CAPN12:NM_144691:exon4:c.G460A:p.V154M,D,D,D,D,D,T
chr19,39410779,39410779,G,A,R010_S,SARS2,Silent,NM_017827,exon6,c.C600T,p.F200F,SNP,SNVindel,exonic,SARS2,NA,synonymous SNV,"SARS2:NM_017827:exon6:c.C600T:p.F200F,SARS2:NM_001145901:exon7:c.C606T:p.F202F",NA,NA,NA,NA,NA,NA
chr19,39589649,39589649,G,A,R010_S,ACP7,Silent,NM_001004318,exon4,c.G372A,p.R124R,SNP,SNVindel,exonic,ACP7,NA,synonymous SNV,"ACP7:NM_001004318:exon4:c.G372A:p.R124R,ACP7:NM_001363687:exon4:c.G372A:p.R124R",NA,NA,NA,NA,NA,NA
chr19,39687779,39687779,C,T,R010_S,NCCRP1,Missense_Mutation,NM_001001414,exon1,c.C157T,p.P53S,SNP,SNVindel,exonic,NCCRP1,NA,nonsynonymous SNV,NCCRP1:NM_001001414:exon1:c.C157T:p.P53S,D,N,N,T,N,T
chr19,39884239,39884239,G,A,R010_S,MED29,Missense_Mutation,NM_001317770,exon3,c.G322A,p.E108K,SNP,SNVindel,exonic,MED29,NA,nonsynonymous SNV,"MED29:NM_001317770:exon3:c.G322A:p.E108K,MED29:NM_017592:exon3:c.G322A:p.E108K",D,D,D,.,D,T
chr19,39997922,39997922,C,T,R010_S,DLL3,Missense_Mutation,NM_016941,exon7,c.C1337T,p.A446V,SNP,SNVindel,exonic,DLL3,NA,nonsynonymous SNV,"DLL3:NM_016941:exon7:c.C1337T:p.A446V,DLL3:NM_203486:exon7:c.C1337T:p.A446V",T,D,D,D,N,D
chr19,40005907,40005907,G,A,R010_S,SELENOV,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SELENOV,NA,unknown,UNKNOWN,D,.,N,T,N,T
chr19,40419793,40419793,G,A,R010_S,FCGBP,Silent,NM_003890,exon6,c.C3201T,p.I1067I,SNP,SNVindel,exonic,FCGBP,NA,synonymous SNV,FCGBP:NM_003890:exon6:c.C3201T:p.I1067I,NA,NA,NA,NA,NA,NA
chr19,40580703,40580703,C,T,R010_S,ZNF780A,Missense_Mutation,NM_001010880,exon6,c.G1646A,p.S549N,SNP,SNVindel,exonic,ZNF780A,NA,nonsynonymous SNV,"ZNF780A:NM_001010880:exon6:c.G1646A:p.S549N,ZNF780A:NM_001142577:exon6:c.G1649A:p.S550N,ZNF780A:NM_001142578:exon6:c.G1646A:p.S549N",D,.,N,T,N,T
chr19,40719776,40719776,C,T,R010_S,MAP3K10,Silent,NM_002446,exon9,c.C2190T,p.R730R,SNP,SNVindel,exonic,MAP3K10,NA,synonymous SNV,MAP3K10:NM_002446:exon9:c.C2190T:p.R730R,NA,NA,NA,NA,NA,NA
chr19,40886248,40886248,G,A,R010_S,HIPK4,Silent,NM_144685,exon3,c.C1650T,p.N550N,SNP,SNVindel,exonic,HIPK4,NA,synonymous SNV,HIPK4:NM_144685:exon3:c.C1650T:p.N550N,NA,NA,NA,NA,NA,NA
chr19,41034970,41034970,G,A,R010_S,SPTBN4,Missense_Mutation,NM_020971,exon18,c.G3880A,p.A1294T,SNP,SNVindel,exonic,SPTBN4,NA,nonsynonymous SNV,SPTBN4:NM_020971:exon18:c.G3880A:p.A1294T,D,D,D,T,D,T
chr19,41074102,41074102,G,A,R010_S,SPTBN4,Silent,NM_020971,exon31,c.G6870A,p.E2290E,SNP,SNVindel,exonic,SPTBN4,NA,synonymous SNV,SPTBN4:NM_020971:exon31:c.G6870A:p.E2290E,NA,NA,NA,NA,NA,NA
chr19,41111541,41111541,G,A,R010_S,LTBP4,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LTBP4,NA,unknown,UNKNOWN,T,U,N,D,N,D
chr19,41113416,41113416,C,T,R010_S,LTBP4,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LTBP4,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,41223878,41223878,C,T,R010_S,ITPKC,Missense_Mutation,NM_025194,exon1,c.C838T,p.P280S,SNP,SNVindel,exonic,ITPKC,NA,nonsynonymous SNV,ITPKC:NM_025194:exon1:c.C838T:p.P280S,T,N,N,.,N,T
chr19,41281509,41281509,G,A,R010_S,MIA,Missense_Mutation,NM_006533,exon1,c.G62A,p.G21D,SNP,SNVindel,exonic,MIA,NA,nonsynonymous SNV,"MIA:NM_006533:exon1:c.G62A:p.G21D,MIA:NM_001202553:exon2:c.G62A:p.G21D",T,U,N,T,N,T
chr19,41306586,41306586,G,A,R010_S,EGLN2,Missense_Mutation,NM_053046,exon2,c.G109A,p.E37K,SNP,SNVindel,exonic,EGLN2,NA,nonsynonymous SNV,"EGLN2:NM_053046:exon2:c.G109A:p.E37K,EGLN2:NM_080732:exon2:c.G109A:p.E37K",D,N,D,T,N,T
chr19,41312477,41312477,C,T,R010_S,EGLN2,Silent,NM_053046,exon3,c.C861T,p.Y287Y,SNP,SNVindel,exonic,EGLN2,NA,synonymous SNV,"EGLN2:NM_053046:exon3:c.C861T:p.Y287Y,EGLN2:NM_080732:exon3:c.C861T:p.Y287Y",NA,NA,NA,NA,NA,NA
chr19,41889747,41889747,C,T,R010_S,TMEM91,Missense_Mutation,NM_001098821,exon4,c.C488T,p.A163V,SNP,SNVindel,exonic,TMEM91,NA,nonsynonymous SNV,TMEM91:NM_001098821:exon4:c.C488T:p.A163V,T,.,D,D,N,T
chr19,41892603,41892603,C,T,R010_S,EXOSC5,Missense_Mutation,NM_020158,exon6,c.G643A,p.A215T,SNP,SNVindel,exonic,EXOSC5,NA,nonsynonymous SNV,EXOSC5:NM_020158:exon6:c.G643A:p.A215T,T,N,N,T,N,T
chr19,42351576,42351576,G,A,R010_S,DMRTC2,Missense_Mutation,NM_001040283,exon2,c.G80A,p.S27N,SNP,SNVindel,exonic,DMRTC2,NA,nonsynonymous SNV,DMRTC2:NM_001040283:exon2:c.G80A:p.S27N,D,N,N,.,N,T
chr19,42365212,42365212,G,A,R010_S,RPS19,Missense_Mutation,NM_001022,exon3,c.G103A,p.D35N,SNP,SNVindel,exonic,RPS19,NA,nonsynonymous SNV,"RPS19:NM_001022:exon3:c.G103A:p.D35N,RPS19:NM_001321483:exon3:c.G103A:p.D35N,RPS19:NM_001321484:exon3:c.G103A:p.D35N,RPS19:NM_001321485:exon3:c.G103A:p.D35N",.,D,D,D,.,T
chr19,42406075,42406075,C,T,R010_S,ARHGEF1,Missense_Mutation,NM_198977,exon14,c.C1207T,p.R403W,SNP,SNVindel,exonic,ARHGEF1,NA,nonsynonymous SNV,"ARHGEF1:NM_198977:exon14:c.C1207T:p.R403W,ARHGEF1:NM_004706:exon15:c.C1306T:p.R436W,ARHGEF1:NM_199002:exon15:c.C1351T:p.R451W",D,D,D,T,D,D
chr19,42721146,42721146,C,T,R010_S,DEDD2,Missense_Mutation,NM_001270614,exon2,c.G14A,p.G5E,SNP,SNVindel,exonic,DEDD2,NA,nonsynonymous SNV,"DEDD2:NM_001270614:exon2:c.G14A:p.G5E,DEDD2:NM_001270615:exon2:c.G14A:p.G5E,DEDD2:NM_133328:exon2:c.G14A:p.G5E",D,N,D,.,N,T
chr19,42813910,42813910,C,T,R010_S,PRR19,Silent,NM_199285,exon2,c.C174T,p.A58A,SNP,SNVindel,exonic,PRR19,NA,synonymous SNV,PRR19:NM_199285:exon2:c.C174T:p.A58A,NA,NA,NA,NA,NA,NA
chr19,42856593,42856593,C,T,R010_S,MEGF8,Missense_Mutation,NM_001410,exon18,c.C3134T,p.S1045L,SNP,SNVindel,exonic,MEGF8,NA,nonsynonymous SNV,"MEGF8:NM_001410:exon18:c.C3134T:p.S1045L,MEGF8:NM_001271938:exon19:c.C3335T:p.S1112L",T,N,N,T,N,T
chr19,42880038,42880038,G,A,R010_S,MEGF8,Missense_Mutation,NM_001410,exon41,c.G7448A,p.G2483E,SNP,SNVindel,exonic,MEGF8,NA,nonsynonymous SNV,"MEGF8:NM_001410:exon41:c.G7448A:p.G2483E,MEGF8:NM_001271938:exon42:c.G7649A:p.G2550E",T,N,D,T,N,T
chr19,42907080,42907080,C,T,R010_S,LIPE,Silent,NM_005357,exon9,c.G2646A,p.R882R,SNP,SNVindel,exonic,LIPE,NA,synonymous SNV,LIPE:NM_005357:exon9:c.G2646A:p.R882R,NA,NA,NA,NA,NA,NA
chr19,43093101,43093101,G,A,R010_S,CEACAM8,Missense_Mutation,NM_001816,exon4,c.C793T,p.P265S,SNP,SNVindel,exonic,CEACAM8,NA,nonsynonymous SNV,CEACAM8:NM_001816:exon4:c.C793T:p.P265S,D,.,N,T,D,T
chr19,43575997,43575997,C,T,R010_S,PSG2,Nonsense_Mutation,NM_031246,exon4,c.G819A,p.W273X,SNP,SNVindel,exonic,PSG2,NA,stopgain,PSG2:NM_031246:exon4:c.G819A:p.W273X,.,.,A,.,.,.
chr19,44050003,44050003,C,T,R010_S,XRCC1,Missense_Mutation,NM_006297,exon14,c.G1588A,p.E530K,SNP,SNVindel,exonic,XRCC1,NA,nonsynonymous SNV,XRCC1:NM_006297:exon14:c.G1588A:p.E530K,T,N,N,T,N,T
chr19,44096940,44096940,C,T,R010_S,IRGQ,Silent,NM_001007561,exon3,c.G1110A,p.R370R,SNP,SNVindel,exonic,IRGQ,NA,synonymous SNV,IRGQ:NM_001007561:exon3:c.G1110A:p.R370R,NA,NA,NA,NA,NA,NA
chr19,44419303,44419303,C,T,R010_S,ZNF45,Silent,NM_003425,exon10,c.G285A,p.R95R,SNP,SNVindel,exonic,ZNF45,NA,synonymous SNV,ZNF45:NM_003425:exon10:c.G285A:p.R95R,NA,NA,NA,NA,NA,NA
chr19,44832072,44832072,C,T,R010_S,ZNF112,Silent,NM_001348284,exon3,c.G2055A,p.E685E,SNP,SNVindel,exonic,ZNF112,NA,synonymous SNV,"ZNF112:NM_001348284:exon3:c.G2055A:p.E685E,ZNF112:NM_001348282:exon4:c.G2238A:p.E746E,ZNF112:NM_001348283:exon4:c.G2238A:p.E746E,ZNF112:NM_013380:exon4:c.G2238A:p.E746E,ZNF112:NM_001083335:exon5:c.G2256A:p.E752E,ZNF112:NM_001348281:exon5:c.G2307A:p.E769E,ZNF112:NM_001348285:exon5:c.G2055A:p.E685E",NA,NA,NA,NA,NA,NA
chr19,45207465,45207465,C,T,R010_S,CEACAM16,Missense_Mutation,NM_001039213,exon4,c.C560T,p.A187V,SNP,SNVindel,exonic,CEACAM16,NA,nonsynonymous SNV,CEACAM16:NM_001039213:exon4:c.C560T:p.A187V,T,U,N,T,N,T
chr19,45377174,45377174,C,T,R010_S,NECTIN2,Silent,NM_001042724,exon4,c.C777T,p.Y259Y,SNP,SNVindel,exonic,NECTIN2,NA,synonymous SNV,"NECTIN2:NM_001042724:exon4:c.C777T:p.Y259Y,NECTIN2:NM_002856:exon4:c.C777T:p.Y259Y",NA,NA,NA,NA,NA,NA
chr19,45490511,45490511,G,A,R010_S,CLPTM1,Missense_Mutation,NM_001282175,exon8,c.G826A,p.D276N,SNP,SNVindel,exonic,CLPTM1,NA,nonsynonymous SNV,"CLPTM1:NM_001282175:exon8:c.G826A:p.D276N,CLPTM1:NM_001282176:exon8:c.G562A:p.D188N,CLPTM1:NM_001294:exon8:c.G868A:p.D290N",D,D,D,.,D,T
chr19,45575163,45575163,G,A,R010_S,ZNF296,Missense_Mutation,NM_145288,exon3,c.C1124T,p.P375L,SNP,SNVindel,exonic,ZNF296,NA,nonsynonymous SNV,ZNF296:NM_145288:exon3:c.C1124T:p.P375L,T,N,N,T,N,T
chr19,45596694,45596694,G,A,R010_S,PPP1R37,Silent,NM_019121,exon1,c.G111A,p.G37G,SNP,SNVindel,exonic,PPP1R37,NA,synonymous SNV,PPP1R37:NM_019121:exon1:c.G111A:p.G37G,NA,NA,NA,NA,NA,NA
chr19,45868325,45868325,C,T,R010_S,ERCC2,Missense_Mutation,NM_001130867,exon5,c.G380A,p.S127N,SNP,SNVindel,exonic,ERCC2,NA,nonsynonymous SNV,"ERCC2:NM_001130867:exon5:c.G380A:p.S127N,ERCC2:NM_000400:exon6:c.G452A:p.S151N",T,D,D,T,N,T
chr19,46025443,46025443,C,T,R010_S,VASP,Missense_Mutation,NM_003370,exon5,c.C446T,p.S149L,SNP,SNVindel,exonic,VASP,NA,nonsynonymous SNV,VASP:NM_003370:exon5:c.C446T:p.S149L,T,N,N,T,N,T
chr19,46130044,46130044,C,T,R010_S,EML2,Silent,NM_001352051,exon6,c.G312A,p.V104V,SNP,SNVindel,exonic,EML2,NA,synonymous SNV,"EML2:NM_001352051:exon6:c.G312A:p.V104V,EML2:NM_001352054:exon8:c.G594A:p.V198V,EML2:NM_012155:exon8:c.G660A:p.V220V,EML2:NM_001193268:exon11:c.G1263A:p.V421V,EML2:NM_001193269:exon11:c.G1101A:p.V367V,EML2:NM_001352052:exon11:c.G1260A:p.V420V,EML2:NM_001352053:exon11:c.G1098A:p.V366V",NA,NA,NA,NA,NA,NA
chr19,46196058,46196058,G,A,R010_S,QPCTL,Missense_Mutation,NM_001163377,exon1,c.G97A,p.V33I,SNP,SNVindel,exonic,QPCTL,NA,nonsynonymous SNV,"QPCTL:NM_001163377:exon1:c.G97A:p.V33I,QPCTL:NM_017659:exon1:c.G97A:p.V33I",T,N,N,T,N,T
chr19,46318003,46318003,G,A,R010_S,RSPH6A,Silent,NM_030785,exon1,c.C432T,p.N144N,SNP,SNVindel,exonic,RSPH6A,NA,synonymous SNV,RSPH6A:NM_030785:exon1:c.C432T:p.N144N,NA,NA,NA,NA,NA,NA
chr19,46733677,46733677,G,A,R010_S,IGFL1,Missense_Mutation,NM_198541,exon3,c.G226A,p.V76I,SNP,SNVindel,exonic,IGFL1,NA,nonsynonymous SNV,IGFL1:NM_198541:exon3:c.G226A:p.V76I,T,N,N,T,N,T
chr19,46838183,46838183,C,T,R010_S,HIF3A,Missense_Mutation,NM_022462,exon13,c.C1645T,p.P549S,SNP,SNVindel,exonic,HIF3A,NA,nonsynonymous SNV,"HIF3A:NM_022462:exon13:c.C1645T:p.P549S,HIF3A:NM_152794:exon14:c.C1846T:p.P616S,HIF3A:NM_152795:exon14:c.C1852T:p.P618S",D,N,N,T,N,T
chr19,46891699,46891699,G,A,R010_S,PPP5C,Silent,NM_001204284,exon9,c.G1104A,p.Q368Q,SNP,SNVindel,exonic,PPP5C,NA,synonymous SNV,"PPP5C:NM_001204284:exon9:c.G1104A:p.Q368Q,PPP5C:NM_006247:exon10:c.G1170A:p.Q390Q",NA,NA,NA,NA,NA,NA
chr19,46915760,46915760,C,T,R010_S,CCDC8,Missense_Mutation,NM_032040,exon1,c.G308A,p.S103N,SNP,SNVindel,exonic,CCDC8,NA,nonsynonymous SNV,CCDC8:NM_032040:exon1:c.G308A:p.S103N,D,D,N,T,N,T
chr19,46974026,46974026,C,T,R010_S,PNMA8A,Silent,NM_001103149,exon2,c.G267A,p.R89R,SNP,SNVindel,exonic,PNMA8A,NA,synonymous SNV,"PNMA8A:NM_001103149:exon2:c.G267A:p.R89R,PNMA8A:NM_018215:exon2:c.G267A:p.R89R",NA,NA,NA,NA,NA,NA
chr19,47126766,47126766,G,A,R010_S,PTGIR,Silent,NM_000960,exon2,c.C717T,p.I239I,SNP,SNVindel,exonic,PTGIR,NA,synonymous SNV,PTGIR:NM_000960:exon2:c.C717T:p.I239I,NA,NA,NA,NA,NA,NA
chr19,47424301,47424301,G,A,R010_S,ARHGAP35,Missense_Mutation,NM_004491,exon2,c.G2369A,p.C790Y,SNP,SNVindel,exonic,ARHGAP35,NA,nonsynonymous SNV,ARHGAP35:NM_004491:exon2:c.G2369A:p.C790Y,D,D,D,T,D,T
chr19,47569766,47569766,G,A,R010_S,ZC3H4,Silent,NM_015168,exon15,c.C3759T,p.P1253P,SNP,SNVindel,exonic,ZC3H4,NA,synonymous SNV,ZC3H4:NM_015168:exon15:c.C3759T:p.P1253P,NA,NA,NA,NA,NA,NA
chr19,47823913,47823913,C,T,R010_S,C5AR1,Silent,NM_001736,exon2,c.C879T,p.C293C,SNP,SNVindel,exonic,C5AR1,NA,synonymous SNV,C5AR1:NM_001736:exon2:c.C879T:p.C293C,NA,NA,NA,NA,NA,NA
chr19,48244318,48244318,C,T,R010_S,EHD2,Missense_Mutation,NM_014601,exon6,c.C1261T,p.P421S,SNP,SNVindel,exonic,EHD2,NA,nonsynonymous SNV,EHD2:NM_014601:exon6:c.C1261T:p.P421S,T,D,D,T,D,T
chr19,48556258,48556258,C,T,R010_S,PLA2G4C,Missense_Mutation,NM_001159322,exon16,c.G1606A,p.A536T,SNP,SNVindel,exonic,PLA2G4C,NA,nonsynonymous SNV,"PLA2G4C:NM_001159322:exon16:c.G1606A:p.A536T,PLA2G4C:NM_001159323:exon16:c.G1576A:p.A526T,PLA2G4C:NM_003706:exon16:c.G1576A:p.A526T",T,N,N,T,N,T
chr19,48664760,48664760,C,T,R010_S,LIG1,Missense_Mutation,NM_001289063,exon3,c.G22A,p.A8T,SNP,SNVindel,exonic,LIG1,NA,nonsynonymous SNV,"LIG1:NM_001289063:exon3:c.G22A:p.A8T,LIG1:NM_001320971:exon3:c.G22A:p.A8T,LIG1:NM_000234:exon4:c.G112A:p.A38T,LIG1:NM_001289064:exon4:c.G112A:p.A38T,LIG1:NM_001320970:exon4:c.G112A:p.A38T",T,D,D,T,N,T
chr19,48908351,48908351,G,A,R010_S,GRIN2D,Missense_Mutation,NM_000836,exon3,c.G826A,p.G276R,SNP,SNVindel,exonic,GRIN2D,NA,nonsynonymous SNV,GRIN2D:NM_000836:exon3:c.G826A:p.G276R,T,D,D,T,N,T
chr19,48923004,48923004,C,T,R010_S,GRIN2D,Missense_Mutation,NM_000836,exon9,c.C2024T,p.A675V,SNP,SNVindel,exonic,GRIN2D,NA,nonsynonymous SNV,GRIN2D:NM_000836:exon9:c.C2024T:p.A675V,D,D,D,T,D,D
chr19,49005761,49005761,C,T,R010_S,LMTK3,Silent,NM_001080434,exon8,c.G810A,p.R270R,SNP,SNVindel,exonic,LMTK3,NA,synonymous SNV,LMTK3:NM_001080434:exon8:c.G810A:p.R270R,NA,NA,NA,NA,NA,NA
chr19,49129551,49129551,C,T,R010_S,SPHK2,Missense_Mutation,NM_001204160,exon2,c.C335T,p.A112V,SNP,SNVindel,exonic,SPHK2,NA,nonsynonymous SNV,"SPHK2:NM_001204160:exon2:c.C335T:p.A112V,SPHK2:NM_001204158:exon3:c.C266T:p.A89V,SPHK2:NM_001204159:exon3:c.C443T:p.A148V,SPHK2:NM_020126:exon3:c.C443T:p.A148V",T,N,D,T,N,T
chr19,49131260,49131260,C,T,R010_S,SPHK2,Silent,NM_001204160,exon4,c.C582T,p.V194V,SNP,SNVindel,exonic,SPHK2,NA,synonymous SNV,"SPHK2:NM_001204160:exon4:c.C582T:p.V194V,SPHK2:NM_001243876:exon4:c.C72T:p.V24V,SPHK2:NM_001204158:exon5:c.C513T:p.V171V,SPHK2:NM_001204159:exon5:c.C690T:p.V230V,SPHK2:NM_020126:exon5:c.C690T:p.V230V",NA,NA,NA,NA,NA,NA
chr19,49148705,49148705,C,T,R010_S,CA11,Missense_Mutation,NM_001217,exon2,c.G97A,p.D33N,SNP,SNVindel,exonic,CA11,NA,nonsynonymous SNV,CA11:NM_001217:exon2:c.G97A:p.D33N,T,N,D,T,N,T
chr19,49217754,49217754,G,A,R010_S,MAMSTR,Missense_Mutation,NM_182574,exon5,c.C283T,p.L95F,SNP,SNVindel,exonic,MAMSTR,NA,nonsynonymous SNV,"MAMSTR:NM_182574:exon5:c.C283T:p.L95F,MAMSTR:NM_001130915:exon7:c.C592T:p.L198F",D,D,D,.,D,D
chr19,49224190,49224190,C,T,R010_S,RASIP1,Silent,NM_017805,exon12,c.G2757A,p.L919L,SNP,SNVindel,exonic,RASIP1,NA,synonymous SNV,RASIP1:NM_017805:exon12:c.G2757A:p.L919L,NA,NA,NA,NA,NA,NA
chr19,49261423,49261423,C,T,R010_S,FGF21,Silent,NM_019113,exon4,c.C576T,p.D192D,SNP,SNVindel,exonic,FGF21,NA,synonymous SNV,FGF21:NM_019113:exon4:c.C576T:p.D192D,NA,NA,NA,NA,NA,NA
chr19,49357487,49357487,C,T,R010_S,PLEKHA4,Missense_Mutation,NM_001161354,exon9,c.G1007A,p.S336N,SNP,SNVindel,exonic,PLEKHA4,NA,nonsynonymous SNV,"PLEKHA4:NM_001161354:exon9:c.G1007A:p.S336N,PLEKHA4:NM_020904:exon10:c.G1082A:p.S361N",D,N,N,T,N,T
chr19,49377607,49377607,G,A,R010_S,PPP1R15A,Missense_Mutation,NM_014330,exon2,c.G1117A,p.A373T,SNP,SNVindel,exonic,PPP1R15A,NA,nonsynonymous SNV,PPP1R15A:NM_014330:exon2:c.G1117A:p.A373T,T,N,N,T,N,T
chr19,49377921,49377921,C,T,R010_S,PPP1R15A,Silent,NM_014330,exon2,c.C1431T,p.A477A,SNP,SNVindel,exonic,PPP1R15A,NA,synonymous SNV,PPP1R15A:NM_014330:exon2:c.C1431T:p.A477A,NA,NA,NA,NA,NA,NA
chr19,49658459,49658459,G,A,R010_S,HRC,Silent,NM_002152,exon1,c.C36T,p.V12V,SNP,SNVindel,exonic,HRC,NA,synonymous SNV,HRC:NM_002152:exon1:c.C36T:p.V12V,NA,NA,NA,NA,NA,NA
chr19,49930190,49930190,C,T,R010_S,GFY,Missense_Mutation,NM_001195256,exon1,c.C503T,p.T168I,SNP,SNVindel,exonic,GFY,NA,nonsynonymous SNV,GFY:NM_001195256:exon1:c.C503T:p.T168I,.,.,.,.,.,.
chr19,49938517,49938517,C,T,R010_S,SLC17A7,Silent,NM_020309,exon3,c.G342A,p.E114E,SNP,SNVindel,exonic,SLC17A7,NA,synonymous SNV,SLC17A7:NM_020309:exon3:c.G342A:p.E114E,NA,NA,NA,NA,NA,NA
chr19,49969140,49969140,G,A,R010_S,ALDH16A1,Missense_Mutation,NM_001145396,exon12,c.G1561A,p.A521T,SNP,SNVindel,exonic,ALDH16A1,NA,nonsynonymous SNV,"ALDH16A1:NM_001145396:exon12:c.G1561A:p.A521T,ALDH16A1:NM_153329:exon13:c.G1714A:p.A572T",D,N,D,T,D,T
chr19,50183767,50183767,C,T,R010_S,PRMT1,Silent,NM_001207042,exon2,c.C60T,p.S20S,SNP,SNVindel,exonic,PRMT1,NA,synonymous SNV,"PRMT1:NM_001207042:exon2:c.C60T:p.S20S,PRMT1:NM_198318:exon2:c.C60T:p.S20S,PRMT1:NM_001536:exon3:c.C114T:p.S38S",NA,NA,NA,NA,NA,NA
chr19,50303353,50303353,G,A,R010_S,AP2A1,Silent,NM_014203,exon11,c.G1401A,p.Q467Q,SNP,SNVindel,exonic,AP2A1,NA,synonymous SNV,"AP2A1:NM_014203:exon11:c.G1401A:p.Q467Q,AP2A1:NM_130787:exon11:c.G1401A:p.Q467Q",NA,NA,NA,NA,NA,NA
chr19,50462051,50462051,G,A,R010_S,SIGLEC11,Silent,NM_001135163,exon7,c.C1212T,p.T404T,SNP,SNVindel,exonic,SIGLEC11,NA,synonymous SNV,"SIGLEC11:NM_001135163:exon7:c.C1212T:p.T404T,SIGLEC11:NM_052884:exon7:c.C1212T:p.T404T",NA,NA,NA,NA,NA,NA
chr19,50713761,50713761,C,T,R010_S,MYH14,Nonsense_Mutation,NM_001077186,exon2,c.C139T,p.Q47X,SNP,SNVindel,exonic,MYH14,NA,stopgain,"MYH14:NM_001077186:exon2:c.C139T:p.Q47X,MYH14:NM_001145809:exon2:c.C139T:p.Q47X,MYH14:NM_024729:exon2:c.C139T:p.Q47X",.,.,A,.,.,.
chr19,50918839,50918839,G,A,R010_S,POLD1,Silent,NM_001308632,exon20,c.G2787A,p.L929L,SNP,SNVindel,exonic,POLD1,NA,synonymous SNV,"POLD1:NM_001308632:exon20:c.G2787A:p.L929L,POLD1:NM_001256849:exon21:c.G2709A:p.L903L,POLD1:NM_002691:exon21:c.G2709A:p.L903L",NA,NA,NA,NA,NA,NA
chr19,50979607,50979607,G,A,R010_S,FAM71E1,Silent,NM_001308429,exon1,c.C39T,p.P13P,SNP,SNVindel,exonic,FAM71E1,NA,synonymous SNV,"FAM71E1:NM_001308429:exon1:c.C39T:p.P13P,FAM71E1:NM_138411:exon1:c.C39T:p.P13P",NA,NA,NA,NA,NA,NA
chr19,51051991,51051991,C,T,R010_S,LRRC4B,Silent,NM_001080457,exon2,c.G105A,p.G35G,SNP,SNVindel,exonic,LRRC4B,NA,synonymous SNV,"LRRC4B:NM_001080457:exon2:c.G105A:p.G35G,LRRC4B:NM_001348568:exon2:c.G105A:p.G35G",NA,NA,NA,NA,NA,NA
chr19,51133347,51133347,G,A,R010_S,SYT3,Silent,NM_032298,exon3,c.C756T,p.A252A,SNP,SNVindel,exonic,SYT3,NA,synonymous SNV,"SYT3:NM_032298:exon3:c.C756T:p.A252A,SYT3:NM_001160328:exon5:c.C756T:p.A252A,SYT3:NM_001160329:exon5:c.C756T:p.A252A",NA,NA,NA,NA,NA,NA
chr19,51170731,51170731,C,T,R010_S,SHANK1,Missense_Mutation,NM_016148,exon23,c.G4486A,p.E1496K,SNP,SNVindel,exonic,SHANK1,NA,nonsynonymous SNV,SHANK1:NM_016148:exon23:c.G4486A:p.E1496K,D,U,D,T,N,T
chr19,51171762,51171762,G,A,R010_S,SHANK1,Missense_Mutation,NM_016148,exon23,c.C3455T,p.S1152F,SNP,SNVindel,exonic,SHANK1,NA,nonsynonymous SNV,SHANK1:NM_016148:exon23:c.C3455T:p.S1152F,D,U,D,T,D,T
chr19,51298104,51298104,C,T,R010_S,ACP4,Missense_Mutation,NM_033068,exon10,c.C1048T,p.L350F,SNP,SNVindel,exonic,ACP4,NA,nonsynonymous SNV,ACP4:NM_033068:exon10:c.C1048T:p.L350F,D,N,N,T,D,T
chr19,51301679,51301679,C,T,R010_S,C19orf48,Silent,NM_001290150,exon3,c.G27A,p.E9E,SNP,SNVindel,exonic,C19orf48,NA,synonymous SNV,"C19orf48:NM_001290150:exon3:c.G27A:p.E9E,C19orf48:NM_001290151:exon4:c.G27A:p.E9E,C19orf48:NM_001290152:exon4:c.G27A:p.E9E,C19orf48:NM_001290155:exon4:c.G27A:p.E9E,C19orf48:NM_032712:exon4:c.G27A:p.E9E,C19orf48:NM_199250:exon4:c.G27A:p.E9E,C19orf48:NM_001290153:exon5:c.G27A:p.E9E,C19orf48:NM_001290154:exon5:c.G27A:p.E9E,C19orf48:NM_199249:exon5:c.G27A:p.E9E,C19orf48:NM_001290149:exon6:c.G27A:p.E9E",NA,NA,NA,NA,NA,NA
chr19,51323414,51323414,C,T,R010_S,KLK1,Silent,NM_002257,exon3,c.G492A,p.E164E,SNP,SNVindel,exonic,KLK1,NA,synonymous SNV,KLK1:NM_002257:exon3:c.G492A:p.E164E,NA,NA,NA,NA,NA,NA
chr19,51528018,51528018,C,T,R010_S,KLK11,Missense_Mutation,NM_001136032,exon3,c.G73A,p.G25R,SNP,SNVindel,exonic,KLK11,NA,nonsynonymous SNV,"KLK11:NM_001136032:exon3:c.G73A:p.G25R,KLK11:NM_001167605:exon3:c.G73A:p.G25R,KLK11:NM_006853:exon3:c.G73A:p.G25R,KLK11:NM_144947:exon3:c.G169A:p.G57R",D,U,D,D,D,D
chr19,51535245,51535245,C,T,R010_S,KLK12,Missense_Mutation,NM_001370125,exon4,c.G344A,p.R115H,SNP,SNVindel,exonic,KLK12,NA,nonsynonymous SNV,"KLK12:NM_001370125:exon4:c.G344A:p.R115H,KLK12:NM_019598:exon4:c.G344A:p.R115H,KLK12:NM_145894:exon4:c.G344A:p.R115H",T,N,N,D,N,T
chr19,51961420,51961420,G,A,R010_S,SIGLEC8,Silent,NM_001363548,exon1,c.C222T,p.Y74Y,SNP,SNVindel,exonic,SIGLEC8,NA,synonymous SNV,"SIGLEC8:NM_001363548:exon1:c.C222T:p.Y74Y,SIGLEC8:NM_014442:exon1:c.C222T:p.Y74Y",NA,NA,NA,NA,NA,NA
chr19,52023495,52023495,C,T,R010_S,SIGLEC6,Missense_Mutation,NM_001177549,exon6,c.G994A,p.V332I,SNP,SNVindel,exonic,SIGLEC6,NA,nonsynonymous SNV,"SIGLEC6:NM_001177549:exon6:c.G994A:p.V332I,SIGLEC6:NM_198846:exon6:c.G1027A:p.V343I,SIGLEC6:NM_001177548:exon7:c.G1154A:p.S385N",T,.,N,T,N,T
chr19,52217117,52217117,C,T,R010_S,HAS1,Missense_Mutation,NM_001297436,exon5,c.G1297A,p.V433M,SNP,SNVindel,exonic,HAS1,NA,nonsynonymous SNV,"HAS1:NM_001297436:exon5:c.G1297A:p.V433M,HAS1:NM_001523:exon5:c.G1300A:p.V434M",T,U,D,T,N,T
chr19,52919605,52919605,G,A,R010_S,ZNF528,Silent,NM_032423,exon7,c.G1500A,p.K500K,SNP,SNVindel,exonic,ZNF528,NA,synonymous SNV,ZNF528:NM_032423:exon7:c.G1500A:p.K500K,NA,NA,NA,NA,NA,NA
chr19,53770645,53770645,C,T,R010_S,VN1R4,Missense_Mutation,NM_173857,exon1,c.G274A,p.G92R,SNP,SNVindel,exonic,VN1R4,NA,nonsynonymous SNV,VN1R4:NM_173857:exon1:c.G274A:p.G92R,D,N,N,T,D,T
chr19,53884224,53884224,C,T,R010_S,ZNF525,Missense_Mutation,NM_001348156,exon4,c.C392T,p.A131V,SNP,SNVindel,exonic,ZNF525,NA,nonsynonymous SNV,"ZNF525:NM_001348156:exon4:c.C392T:p.A131V,ZNF525:NM_001348157:exon4:c.C284T:p.A95V",T,.,D,T,D,T
chr19,54409966,54409966,C,T,R010_S,PRKCG,Silent,NM_001316329,exon18,c.C1911T,p.G637G,SNP,SNVindel,exonic,PRKCG,NA,synonymous SNV,"PRKCG:NM_001316329:exon18:c.C1911T:p.G637G,PRKCG:NM_002739:exon18:c.C1911T:p.G637G",NA,NA,NA,NA,NA,NA
chr19,54600319,54600319,C,T,R010_S,OSCAR,Missense_Mutation,NM_001282350,exon3,c.G170A,p.G57E,SNP,SNVindel,exonic,OSCAR,NA,nonsynonymous SNV,"OSCAR:NM_001282350:exon3:c.G170A:p.G57E,OSCAR:NM_133168:exon3:c.G170A:p.G57E,OSCAR:NM_001282349:exon4:c.G203A:p.G68E,OSCAR:NM_133169:exon4:c.G203A:p.G68E,OSCAR:NM_130771:exon5:c.G215A:p.G72E,OSCAR:NM_206818:exon5:c.G215A:p.G72E",T,U,N,T,D,T
chr19,54722537,54722537,G,A,R010_S,LILRB3,Missense_Mutation,NM_001081450,exon10,c.C1517T,p.A506V,SNP,SNVindel,exonic,LILRB3,NA,nonsynonymous SNV,"LILRB3:NM_001081450:exon10:c.C1517T:p.A506V,LILRB3:NM_006864:exon10:c.C1517T:p.A506V,LILRB3:NM_001320960:exon11:c.C1568T:p.A523V",D,.,N,T,N,T
chr19,54756759,54756759,C,T,R010_S,LILRB5,Silent,NM_001081443,exon8,c.G1149A,p.R383R,SNP,SNVindel,exonic,LILRB5,NA,synonymous SNV,"LILRB5:NM_001081443:exon8:c.G1149A:p.R383R,LILRB5:NM_001081442:exon9:c.G1449A:p.R483R,LILRB5:NM_006840:exon9:c.G1446A:p.R482R",NA,NA,NA,NA,NA,NA
chr19,54782129,54782129,C,T,R010_S,LILRB2,Missense_Mutation,NM_001278404,exon6,c.G895A,p.E299K,SNP,SNVindel,exonic,LILRB2,NA,nonsynonymous SNV,"LILRB2:NM_001278404:exon6:c.G895A:p.E299K,LILRB2:NM_001278405:exon6:c.G1243A:p.E415K,LILRB2:NM_001278406:exon6:c.G1243A:p.E415K,LILRB2:NM_001080978:exon7:c.G1243A:p.E415K,LILRB2:NM_001278403:exon7:c.G1243A:p.E415K,LILRB2:NM_005874:exon7:c.G1243A:p.E415K",D,N,N,T,D,T
chr19,54868550,54868550,G,A,R010_S,LAIR1,Silent,NM_001289023,exon4,c.C387T,p.N129N,SNP,SNVindel,exonic,LAIR1,NA,synonymous SNV,"LAIR1:NM_001289023:exon4:c.C387T:p.N129N,LAIR1:NM_001289027:exon4:c.C387T:p.N129N,LAIR1:NM_021706:exon4:c.C390T:p.N130N,LAIR1:NM_001289025:exon5:c.C438T:p.N146N,LAIR1:NM_001289026:exon5:c.C420T:p.N140N,LAIR1:NM_002287:exon5:c.C441T:p.N147N",NA,NA,NA,NA,NA,NA
chr19,54974680,54974680,C,T,R010_S,LENG9,Silent,NM_001301782,exon1,c.G30A,p.P10P,SNP,SNVindel,exonic,LENG9,NA,synonymous SNV,"LENG9:NM_001301782:exon1:c.G30A:p.P10P,LENG9:NM_198988:exon1:c.G96A:p.P32P",NA,NA,NA,NA,NA,NA
chr19,55177327,55177327,C,T,R010_S,LILRB4,Silent,NM_001278429,exon6,c.C906T,p.S302S,SNP,SNVindel,exonic,LILRB4,NA,synonymous SNV,"LILRB4:NM_001278429:exon6:c.C906T:p.S302S,LILRB4:NM_001278426:exon7:c.C819T:p.S273S,LILRB4:NM_001278427:exon7:c.C819T:p.S273S,LILRB4:NM_001278428:exon7:c.C819T:p.S273S",NA,NA,NA,NA,NA,NA
chr19,55341615,55341615,C,T,R010_S,KIR3DL1,Missense_Mutation,NM_001322168,exon9,c.C1220T,p.T407I,SNP,SNVindel,exonic,KIR3DL1,NA,nonsynonymous SNV,"KIR3DL1:NM_001322168:exon9:c.C1220T:p.T407I,KIR3DL1:NM_013289:exon9:c.C1220T:p.T407I",T,.,N,T,D,T
chr19,55711702,55711702,G,A,R010_S,PTPRH,Missense_Mutation,NM_001161440,exon5,c.C788T,p.T263I,SNP,SNVindel,exonic,PTPRH,NA,nonsynonymous SNV,"PTPRH:NM_001161440:exon5:c.C788T:p.T263I,PTPRH:NM_002842:exon7:c.C1322T:p.T441I",T,N,N,T,N,T
chr19,55857937,55857937,C,T,R010_S,KMT5C,Silent,NM_032701,exon8,c.C777T,p.Y259Y,SNP,SNVindel,exonic,KMT5C,NA,synonymous SNV,KMT5C:NM_032701:exon8:c.C777T:p.Y259Y,NA,NA,NA,NA,NA,NA
chr19,56005232,56005232,G,A,R010_S,SSC5D,Missense_Mutation,NM_001144950,exon7,c.G1166A,p.G389D,SNP,SNVindel,exonic,SSC5D,NA,nonsynonymous SNV,"SSC5D:NM_001144950:exon7:c.G1166A:p.G389D,SSC5D:NM_001195267:exon7:c.G1166A:p.G389D",D,N,N,T,D,T
chr19,56006007,56006007,C,T,R010_S,SSC5D,Missense_Mutation,NM_001144950,exon8,c.C1244T,p.A415V,SNP,SNVindel,exonic,SSC5D,NA,nonsynonymous SNV,"SSC5D:NM_001144950:exon8:c.C1244T:p.A415V,SSC5D:NM_001195267:exon8:c.C1244T:p.A415V",T,N,N,T,N,T
chr19,56125522,56125522,C,T,R010_S,ZNF865,Missense_Mutation,NM_001195605,exon1,c.C538T,p.P180S,SNP,SNVindel,exonic,ZNF865,NA,nonsynonymous SNV,ZNF865:NM_001195605:exon1:c.C538T:p.P180S,T,.,N,T,N,.
chr19,56133395,56133395,C,T,R010_S,ZNF784,Missense_Mutation,NM_203374,exon2,c.G694A,p.G232S,SNP,SNVindel,exonic,ZNF784,NA,nonsynonymous SNV,ZNF784:NM_203374:exon2:c.G694A:p.G232S,T,D,D,T,N,T
chr19,56133555,56133555,C,T,R010_S,ZNF784,Silent,NM_203374,exon2,c.G534A,p.R178R,SNP,SNVindel,exonic,ZNF784,NA,synonymous SNV,ZNF784:NM_203374:exon2:c.G534A:p.R178R,NA,NA,NA,NA,NA,NA
chr19,56614563,56614563,C,T,R010_S,ZNF787,Nonsense_Mutation,NM_001002836,exon2,c.G24A,p.W8X,SNP,SNVindel,exonic,ZNF787,NA,stopgain,"ZNF787:NM_001002836:exon2:c.G24A:p.W8X,ZNF787:NM_001351682:exon2:c.G24A:p.W8X",.,.,A,.,.,.
chr19,57132787,57132787,G,A,R010_S,ZNF71,Nonsense_Mutation,NM_001370214,exon3,c.G132A,p.W44X,SNP,SNVindel,exonic,ZNF71,NA,stopgain,"ZNF71:NM_001370214:exon3:c.G132A:p.W44X,ZNF71:NM_021216:exon3:c.G132A:p.W44X,ZNF71:NM_001370215:exon4:c.G312A:p.W104X",.,.,D,.,.,.
chr19,57176469,57176469,C,T,R010_S,ZNF835,Missense_Mutation,NM_001005850,exon2,c.G98A,p.S33N,SNP,SNVindel,exonic,ZNF835,NA,nonsynonymous SNV,ZNF835:NM_001005850:exon2:c.G98A:p.S33N,T,.,N,T,N,T
chr19,57326246,57326246,G,A,R010_S,PEG3,Silent,NM_001369735,exon8,c.C3099T,p.D1033D,SNP,SNVindel,exonic,PEG3,NA,synonymous SNV,"PEG3:NM_001369735:exon8:c.C3099T:p.D1033D,PEG3:NM_001369736:exon8:c.C3099T:p.D1033D,PEG3:NM_001146184:exon9:c.C3564T:p.D1188D,PEG3:NM_001146185:exon9:c.C3186T:p.D1062D,PEG3:NM_001146187:exon9:c.C3192T:p.D1064D,PEG3:NM_001369717:exon9:c.C3570T:p.D1190D,PEG3:NM_001369719:exon9:c.C3477T:p.D1159D,PEG3:NM_001369721:exon9:c.C3192T:p.D1064D,PEG3:NM_001369725:exon9:c.C3192T:p.D1064D,PEG3:NM_001369733:exon9:c.C3192T:p.D1064D,PEG3:NM_001369734:exon9:c.C3099T:p.D1033D,PEG3:NM_001369737:exon9:c.C3099T:p.D1033D,PEG3:NM_001369718:exon10:c.C3570T:p.D1190D,PEG3:NM_001369722:exon10:c.C3192T:p.D1064D,PEG3:NM_001369727:exon10:c.C3192T:p.D1064D,PEG3:NM_001369729:exon10:c.C3192T:p.D1064D,PEG3:NM_001369730:exon10:c.C3192T:p.D1064D,PEG3:NM_001369732:exon10:c.C3192T:p.D1064D,PEG3:NM_001369738:exon10:c.C3099T:p.D1033D,PEG3:NM_001369739:exon10:c.C3192T:p.D1064D,PEG3:NM_006210:exon10:c.C3564T:p.D1188D,PEG3:NM_001369723:exon11:c.C3192T:p.D1064D,PEG3:NM_001369726:exon11:c.C3192T:p.D1064D,PEG3:NM_001369728:exon11:c.C3192T:p.D1064D,PEG3:NM_001369731:exon11:c.C3192T:p.D1064D,PEG3:NM_001369720:exon12:c.C3192T:p.D1064D,PEG3:NM_001369724:exon12:c.C3192T:p.D1064D",NA,NA,NA,NA,NA,NA
chr19,57765258,57765258,C,T,R010_S,ZNF805,Silent,NM_001145078,exon3,c.C672T,p.Y224Y,SNP,SNVindel,exonic,ZNF805,NA,synonymous SNV,"ZNF805:NM_001145078:exon3:c.C672T:p.Y224Y,ZNF805:NM_001023563:exon4:c.C1071T:p.Y357Y",NA,NA,NA,NA,NA,NA
chr19,57932704,57932704,G,A,R010_S,ZNF17,Missense_Mutation,NM_006959,exon3,c.G1844A,p.C615Y,SNP,SNVindel,exonic,ZNF17,NA,nonsynonymous SNV,"ZNF17:NM_006959:exon3:c.G1844A:p.C615Y,ZNF17:NM_001330617:exon4:c.G1850A:p.C617Y",.,.,N,D,.,T
chr19,58084384,58084384,C,T,R010_S,ZNF416,Silent,NM_001353405,exon3,c.G672A,p.R224R,SNP,SNVindel,exonic,ZNF416,NA,synonymous SNV,"ZNF416:NM_001353405:exon3:c.G672A:p.R224R,ZNF416:NM_017879:exon4:c.G888A:p.R296R",NA,NA,NA,NA,NA,NA
chr19,58101997,58101997,G,A,R010_S,ZIK1,Missense_Mutation,NM_001321147,exon2,c.G509A,p.G170E,SNP,SNVindel,exonic,ZIK1,NA,nonsynonymous SNV,"ZIK1:NM_001321147:exon2:c.G509A:p.G170E,ZIK1:NM_001321145:exon3:c.G779A:p.G260E,ZIK1:NM_001321146:exon3:c.G653A:p.G218E,ZIK1:NM_001010879:exon4:c.G818A:p.G273E",D,.,D,T,D,T
chr19,58265451,58265451,G,A,R010_S,ZNF776,Missense_Mutation,NM_173632,exon3,c.G953A,p.R318K,SNP,SNVindel,exonic,ZNF776,NA,nonsynonymous SNV,ZNF776:NM_173632:exon3:c.G953A:p.R318K,T,.,N,T,N,T
chr19,58806280,58806280,A,G,R010_S,ZNF8,Missense_Mutation,NM_021089,exon4,c.A1106G,p.Y369C,SNP,SNVindel,exonic,ZNF8,NA,nonsynonymous SNV,ZNF8:NM_021089:exon4:c.A1106G:p.Y369C,.,D,N,.,.,T
chr19,58861908,58861908,G,A,R010_S,A1BG,Silent,NM_130786,exon6,c.C1020T,p.D340D,SNP,SNVindel,exonic,A1BG,NA,synonymous SNV,A1BG:NM_130786:exon6:c.C1020T:p.D340D,NA,NA,NA,NA,NA,NA
chr19,58862904,58862904,T,C,R010_S,A1BG,Missense_Mutation,NM_130786,exon5,c.A763G,p.S255G,SNP,SNVindel,exonic,A1BG,NA,nonsynonymous SNV,A1BG:NM_130786:exon5:c.A763G:p.S255G,T,N,N,T,N,T
chr19,58867995,58867995,C,T,R010_S,ZNF497,Missense_Mutation,NM_001207009,exon2,c.G1007A,p.G336D,SNP,SNVindel,exonic,ZNF497,NA,nonsynonymous SNV,"ZNF497:NM_001207009:exon2:c.G1007A:p.G336D,ZNF497:NM_198458:exon3:c.G1007A:p.G336D",D,.,N,T,D,T
chr19,58907466,58907466,C,T,R010_S,RNF225,Missense_Mutation,NM_001195135,exon1,c.C10T,p.P4S,SNP,SNVindel,exonic,RNF225,NA,nonsynonymous SNV,RNF225:NM_001195135:exon1:c.C10T:p.P4S,.,.,.,T,.,.
chr19,58982197,58982197,C,T,R010_S,ZNF324,Missense_Mutation,NM_014347,exon4,c.C338T,p.A113V,SNP,SNVindel,exonic,ZNF324,NA,nonsynonymous SNV,ZNF324:NM_014347:exon4:c.C338T:p.A113V,T,N,N,T,N,T
chr19,59060782,59060782,G,A,R010_S,TRIM28,Missense_Mutation,NM_005762,exon13,c.G1747A,p.E583K,SNP,SNVindel,exonic,TRIM28,NA,nonsynonymous SNV,TRIM28:NM_005762:exon13:c.G1747A:p.E583K,D,D,D,T,N,T
chr20,259888,259888,G,A,R010_S,C20orf96,Silent,NM_080571,exon5,c.C387T,p.I129I,SNP,SNVindel,exonic,C20orf96,NA,synonymous SNV,"C20orf96:NM_080571:exon5:c.C387T:p.I129I,C20orf96:NM_153269:exon5:c.C390T:p.I130I",NA,NA,NA,NA,NA,NA
chr20,278252,278252,G,A,R010_S,ZCCHC3,Missense_Mutation,NM_033089,exon1,c.G25A,p.E9K,SNP,SNVindel,exonic,ZCCHC3,NA,nonsynonymous SNV,ZCCHC3:NM_033089:exon1:c.G25A:p.E9K,.,.,N,.,.,T
chr20,376928,376928,C,T,R010_S,TRIB3,Missense_Mutation,NM_001301188,exon4,c.C671T,p.A224V,SNP,SNVindel,exonic,TRIB3,NA,nonsynonymous SNV,"TRIB3:NM_001301188:exon4:c.C671T:p.A224V,TRIB3:NM_001301190:exon4:c.C671T:p.A224V,TRIB3:NM_001301193:exon4:c.C671T:p.A224V,TRIB3:NM_001301196:exon4:c.C671T:p.A224V,TRIB3:NM_021158:exon4:c.C671T:p.A224V,TRIB3:NM_001301201:exon5:c.C752T:p.A251V",D,D,D,T,D,T
chr20,644675,644675,G,A,R010_S,SCRT2,Silent,NM_033129,exon2,c.C564T,p.C188C,SNP,SNVindel,exonic,SCRT2,NA,synonymous SNV,SCRT2:NM_033129:exon2:c.C564T:p.C188C,NA,NA,NA,NA,NA,NA
chr20,745878,745878,G,A,R010_S,SLC52A3,Missense_Mutation,NM_033409,exon2,c.C541T,p.P181S,SNP,SNVindel,exonic,SLC52A3,NA,nonsynonymous SNV,"SLC52A3:NM_033409:exon2:c.C541T:p.P181S,SLC52A3:NM_001370085:exon3:c.C541T:p.P181S,SLC52A3:NM_001370086:exon3:c.C541T:p.P181S",T,N,N,T,N,T
chr20,1616900,1616900,C,T,R010_S,SIRPG,Missense_Mutation,NM_001039508,exon3,c.G682A,p.V228M,SNP,SNVindel,exonic,SIRPG,NA,nonsynonymous SNV,"SIRPG:NM_001039508:exon3:c.G682A:p.V228M,SIRPG:NM_018556:exon3:c.G682A:p.V228M",D,N,D,T,D,T
chr20,2464314,2464314,G,A,R010_S,ZNF343,Silent,NM_001282498,exon4,c.C1023T,p.H341H,SNP,SNVindel,exonic,ZNF343,NA,synonymous SNV,"ZNF343:NM_001282498:exon4:c.C1023T:p.H341H,ZNF343:NM_001282496:exon6:c.C1293T:p.H431H,ZNF343:NM_001321800:exon6:c.C1293T:p.H431H,ZNF343:NM_001321805:exon6:c.C1290T:p.H430H,ZNF343:NM_024325:exon6:c.C1293T:p.H431H,ZNF343:NM_001282495:exon7:c.C1293T:p.H431H,ZNF343:NM_001282497:exon7:c.C1416T:p.H472H,ZNF343:NM_001321801:exon7:c.C1416T:p.H472H,ZNF343:NM_001321802:exon7:c.C1413T:p.H471H,ZNF343:NM_001321803:exon7:c.C1413T:p.H471H",NA,NA,NA,NA,NA,NA
chr20,2779404,2779404,C,T,R010_S,CPXM1,Missense_Mutation,NM_001184699,exon2,c.G308A,p.G103E,SNP,SNVindel,exonic,CPXM1,NA,nonsynonymous SNV,"CPXM1:NM_001184699:exon2:c.G308A:p.G103E,CPXM1:NM_019609:exon2:c.G308A:p.G103E",T,N,N,D,N,T
chr20,2797516,2797516,G,A,R010_S,TMEM239,Missense_Mutation,NM_001167670,exon2,c.G316A,p.A106T,SNP,SNVindel,exonic,TMEM239,NA,nonsynonymous SNV,"TMEM239:NM_001167670:exon2:c.G316A:p.A106T,TMEM239:NM_001318207:exon2:c.G445A:p.A149T",D,.,N,.,D,T
chr20,2843514,2843514,G,A,R010_S,VPS16,Missense_Mutation,NM_022575,exon13,c.G1265A,p.C422Y,SNP,SNVindel,exonic,VPS16,NA,nonsynonymous SNV,VPS16:NM_022575:exon13:c.G1265A:p.C422Y,D,D,D,T,D,T
chr20,3127727,3127727,G,A,R010_S,FASTKD5,Missense_Mutation,NM_021826,exon2,c.C1990T,p.P664S,SNP,SNVindel,exonic,FASTKD5,NA,nonsynonymous SNV,FASTKD5:NM_021826:exon2:c.C1990T:p.P664S,D,N,N,T,N,T
chr20,3129101,3129101,G,A,R010_S,FASTKD5,Silent,NM_021826,exon2,c.C616T,p.L206L,SNP,SNVindel,exonic,FASTKD5,NA,synonymous SNV,FASTKD5:NM_021826:exon2:c.C616T:p.L206L,NA,NA,NA,NA,NA,NA
chr20,3171320,3171320,G,A,R010_S,DDRGK1,Silent,NM_023935,exon9,c.C924T,p.S308S,SNP,SNVindel,exonic,DDRGK1,NA,synonymous SNV,DDRGK1:NM_023935:exon9:c.C924T:p.S308S,NA,NA,NA,NA,NA,NA
chr20,3183957,3183957,C,T,R010_S,DDRGK1,Missense_Mutation,NM_023935,exon2,c.G197A,p.R66H,SNP,SNVindel,exonic,DDRGK1,NA,nonsynonymous SNV,DDRGK1:NM_023935:exon2:c.G197A:p.R66H,D,D,D,T,N,T
chr20,3677325,3677325,C,T,R010_S,SIGLEC1,Missense_Mutation,NM_001367089,exon10,c.G2591A,p.R864Q,SNP,SNVindel,exonic,SIGLEC1,NA,nonsynonymous SNV,"SIGLEC1:NM_001367089:exon10:c.G2591A:p.R864Q,SIGLEC1:NM_023068:exon11:c.G2591A:p.R864Q",T,N,N,T,N,T
chr20,3682231,3682231,C,T,R010_S,SIGLEC1,Missense_Mutation,NM_001367089,exon6,c.G1286A,p.G429D,SNP,SNVindel,exonic,SIGLEC1,NA,nonsynonymous SNV,"SIGLEC1:NM_001367089:exon6:c.G1286A:p.G429D,SIGLEC1:NM_023068:exon7:c.G1286A:p.G429D",T,D,D,T,N,D
chr20,4164165,4164165,G,A,R010_S,SMOX,Missense_Mutation,NM_001270691,exon6,c.G1394A,p.R465Q,SNP,SNVindel,exonic,SMOX,NA,nonsynonymous SNV,"SMOX:NM_001270691:exon6:c.G1394A:p.R465Q,SMOX:NM_175839:exon6:c.G1394A:p.R465Q,SMOX:NM_175840:exon7:c.G1235A:p.R412Q,SMOX:NM_175842:exon7:c.G1235A:p.R412Q",T,N,D,D,N,D
chr20,4705593,4705593,C,T,R010_S,PRND,Silent,NM_012409,exon2,c.C396T,p.L132L,SNP,SNVindel,exonic,PRND,NA,synonymous SNV,PRND:NM_012409:exon2:c.C396T:p.L132L,NA,NA,NA,NA,NA,NA
chr20,5904063,5904063,G,A,R010_S,CHGB,Missense_Mutation,NM_001819,exon4,c.G1273A,p.E425K,SNP,SNVindel,exonic,CHGB,NA,nonsynonymous SNV,CHGB:NM_001819:exon4:c.G1273A:p.E425K,D,N,N,T,N,T
chr20,10033871,10033871,G,A,R010_S,ANKEF1,Missense_Mutation,NM_198798,exon8,c.G1982A,p.G661D,SNP,SNVindel,exonic,ANKEF1,NA,nonsynonymous SNV,"ANKEF1:NM_198798:exon8:c.G1982A:p.G661D,ANKEF1:NM_001303472:exon9:c.G1415A:p.G472D,ANKEF1:NM_022096:exon9:c.G1982A:p.G661D",T,N,N,T,D,T
chr20,13709085,13709085,C,T,R010_S,ESF1,Missense_Mutation,NM_001276380,exon11,c.G1978A,p.E660K,SNP,SNVindel,exonic,ESF1,NA,nonsynonymous SNV,"ESF1:NM_001276380:exon11:c.G1978A:p.E660K,ESF1:NM_016649:exon11:c.G1978A:p.E660K",T,N,D,T,N,T
chr20,17445975,17445975,G,A,R010_S,PCSK2,Missense_Mutation,NM_001201529,exon10,c.G1102A,p.G368S,SNP,SNVindel,exonic,PCSK2,NA,nonsynonymous SNV,"PCSK2:NM_001201529:exon10:c.G1102A:p.G368S,PCSK2:NM_002594:exon11:c.G1207A:p.G403S,PCSK2:NM_001201528:exon12:c.G1150A:p.G384S",T,N,D,D,N,T
chr20,17608241,17608241,C,T,R010_S,RRBP1,Missense_Mutation,NM_001365613,exon10,c.G2836A,p.A946T,SNP,SNVindel,exonic,RRBP1,NA,nonsynonymous SNV,"RRBP1:NM_001365613:exon10:c.G2836A:p.A946T,RRBP1:NM_004587:exon10:c.G1537A:p.A513T,RRBP1:NM_001042576:exon11:c.G1537A:p.A513T",T,N,D,T,N,T
chr20,17617299,17617299,C,T,R010_S,RRBP1,Missense_Mutation,NM_001365613,exon6,c.G2260A,p.E754K,SNP,SNVindel,exonic,RRBP1,NA,nonsynonymous SNV,"RRBP1:NM_001365613:exon6:c.G2260A:p.E754K,RRBP1:NM_004587:exon6:c.G961A:p.E321K,RRBP1:NM_001042576:exon7:c.G961A:p.E321K",D,N,D,T,D,T
chr20,17968925,17968925,C,T,R010_S,MGME1,Missense_Mutation,NM_001363738,exon4,c.C608T,p.T203I,SNP,SNVindel,exonic,MGME1,NA,nonsynonymous SNV,"MGME1:NM_001363738:exon4:c.C608T:p.T203I,MGME1:NM_052865:exon4:c.C848T:p.T283I,MGME1:NM_001310338:exon5:c.C893T:p.T298I",T,N,D,T,N,T
chr20,17970702,17970702,A,G,R010_S,MGME1,Missense_Mutation,NM_001310339,exon3,c.A632G,p.Y211C,SNP,SNVindel,exonic,MGME1,NA,nonsynonymous SNV,"MGME1:NM_001310339:exon3:c.A632G:p.Y211C,MGME1:NM_001363738:exon5:c.A745G:p.T249A,MGME1:NM_052865:exon5:c.A985G:p.T329A,MGME1:NM_001310338:exon6:c.A1030G:p.T344A",T,N,N,T,N,T
chr20,19955850,19955850,G,A,R010_S,RIN2,Missense_Mutation,NM_018993,exon7,c.G1181A,p.G394D,SNP,SNVindel,exonic,RIN2,NA,nonsynonymous SNV,"RIN2:NM_018993:exon7:c.G1181A:p.G394D,RIN2:NM_001242581:exon8:c.G1328A:p.G443D",T,N,D,T,N,T
chr20,25264790,25264790,G,A,R010_S,PYGB,Silent,NM_002862,exon14,c.G1671A,p.K557K,SNP,SNVindel,exonic,PYGB,NA,synonymous SNV,PYGB:NM_002862:exon14:c.G1671A:p.K557K,NA,NA,NA,NA,NA,NA
chr20,25271138,25271138,G,A,R010_S,PYGB,Missense_Mutation,NM_002862,exon16,c.G1849A,p.A617T,SNP,SNVindel,exonic,PYGB,NA,nonsynonymous SNV,PYGB:NM_002862:exon16:c.G1849A:p.A617T,D,D,D,D,D,D
chr20,25300873,25300873,G,A,R010_S,ABHD12,Silent,NM_001042472,exon4,c.C504T,p.H168H,SNP,SNVindel,exonic,ABHD12,NA,synonymous SNV,"ABHD12:NM_001042472:exon4:c.C504T:p.H168H,ABHD12:NM_015600:exon4:c.C504T:p.H168H",NA,NA,NA,NA,NA,NA
chr20,25457313,25457313,C,T,R010_S,NINL,Missense_Mutation,NM_025176,exon17,c.G2614A,p.A872T,SNP,SNVindel,exonic,NINL,NA,nonsynonymous SNV,NINL:NM_025176:exon17:c.G2614A:p.A872T,T,N,N,T,N,T
chr20,25656162,25656162,G,A,R010_S,ZNF337,Missense_Mutation,NM_001290261,exon4,c.C1762T,p.L588F,SNP,SNVindel,exonic,ZNF337,NA,nonsynonymous SNV,"ZNF337:NM_001290261:exon4:c.C1762T:p.L588F,ZNF337:NM_015655:exon5:c.C1762T:p.L588F",T,.,N,T,N,T
chr20,30064473,30064473,C,T,R010_S,REM1,Silent,NM_014012,exon2,c.C225T,p.G75G,SNP,SNVindel,exonic,REM1,NA,synonymous SNV,REM1:NM_014012:exon2:c.C225T:p.G75G,NA,NA,NA,NA,NA,NA
chr20,30556308,30556308,C,T,R010_S,XKR7,Silent,NM_001011718,exon1,c.C330T,p.R110R,SNP,SNVindel,exonic,XKR7,NA,synonymous SNV,XKR7:NM_001011718:exon1:c.C330T:p.R110R,NA,NA,NA,NA,NA,NA
chr20,31023105,31023105,G,A,R010_S,ASXL1,Missense_Mutation,NM_001363734,exon11,c.G2407A,p.D803N,SNP,SNVindel,exonic,ASXL1,NA,nonsynonymous SNV,"ASXL1:NM_001363734:exon11:c.G2407A:p.D803N,ASXL1:NM_015338:exon12:c.G2590A:p.D864N",T,N,N,T,N,T
chr20,31035475,31035475,G,A,R010_S,NOL4L,Missense_Mutation,NM_080616,exon8,c.C1235T,p.A412V,SNP,SNVindel,exonic,NOL4L,NA,nonsynonymous SNV,"NOL4L:NM_080616:exon8:c.C1235T:p.A412V,NOL4L:NM_001256798:exon11:c.C1967T:p.A656V",D,D,D,.,N,T
chr20,31238430,31238430,G,A,R010_S,C20orf203,Missense_Mutation,NM_182584,exon4,c.C389T,p.A130V,SNP,SNVindel,exonic,C20orf203,NA,nonsynonymous SNV,C20orf203:NM_182584:exon4:c.C389T:p.A130V,NA,NA,NA,NA,NA,NA
chr20,31394119,31394119,C,T,R010_S,DNMT3B,Silent,NM_175848,exon21,c.C2346T,p.C782C,SNP,SNVindel,exonic,DNMT3B,NA,synonymous SNV,"DNMT3B:NM_175848:exon21:c.C2346T:p.C782C,DNMT3B:NM_175850:exon21:c.C2382T:p.C794C,DNMT3B:NM_006892:exon22:c.C2406T:p.C802C",NA,NA,NA,NA,NA,NA
chr20,31500647,31500647,G,A,R010_S,EFCAB8,Nonsense_Mutation,NM_001143967,exon17,c.G1833A,p.W611X,SNP,SNVindel,exonic,EFCAB8,NA,stopgain,EFCAB8:NM_001143967:exon17:c.G1833A:p.W611X,.,.,.,.,.,.
chr20,31546254,31546254,G,A,R010_S,EFCAB8,Missense_Mutation,NM_001143967,exon24,c.G2987A,p.R996K,SNP,SNVindel,exonic,EFCAB8,NA,nonsynonymous SNV,EFCAB8:NM_001143967:exon24:c.G2987A:p.R996K,.,.,.,.,.,.
chr20,31609585,31609585,C,T,R010_S,BPIFB2,Missense_Mutation,NM_025227,exon15,c.C1315T,p.P439S,SNP,SNVindel,exonic,BPIFB2,NA,nonsynonymous SNV,BPIFB2:NM_025227:exon15:c.C1315T:p.P439S,T,N,N,T,N,T
chr20,31805431,31805431,C,T,R010_S,BPIFA3,Missense_Mutation,NM_001042439,exon1,c.C89T,p.A30V,SNP,SNVindel,exonic,BPIFA3,NA,nonsynonymous SNV,"BPIFA3:NM_001042439:exon1:c.C89T:p.A30V,BPIFA3:NM_178466:exon1:c.C89T:p.A30V",D,N,N,T,N,T
chr20,32661410,32661410,G,A,R010_S,RALY,Missense_Mutation,NM_007367,exon4,c.G298A,p.G100R,SNP,SNVindel,exonic,RALY,NA,nonsynonymous SNV,"RALY:NM_007367:exon4:c.G298A:p.G100R,RALY:NM_016732:exon4:c.G298A:p.G100R",D,D,D,T,D,T
chr20,32879303,32879303,C,T,R010_S,AHCY,Silent,NM_000687,exon5,c.G480A,p.G160G,SNP,SNVindel,exonic,AHCY,NA,synonymous SNV,"AHCY:NM_000687:exon5:c.G480A:p.G160G,AHCY:NM_001161766:exon5:c.G396A:p.G132G,AHCY:NM_001322084:exon5:c.G396A:p.G132G,AHCY:NM_001322085:exon5:c.G396A:p.G132G,AHCY:NM_001322086:exon5:c.G486A:p.G162G,AHCY:NM_001362750:exon5:c.G480A:p.G160G",NA,NA,NA,NA,NA,NA
chr20,33296624,33296624,G,A,R010_S,TP53INP2,Silent,NM_001329430,exon2,c.G81A,p.S27S,SNP,SNVindel,exonic,TP53INP2,NA,synonymous SNV,"TP53INP2:NM_001329430:exon2:c.G81A:p.S27S,TP53INP2:NM_001329429:exon3:c.G81A:p.S27S,TP53INP2:NM_001329431:exon3:c.G81A:p.S27S,TP53INP2:NM_021202:exon3:c.G81A:p.S27S",NA,NA,NA,NA,NA,NA
chr20,33330508,33330508,G,A,R010_S,NCOA6,Silent,NM_014071,exon11,c.C3552T,p.P1184P,SNP,SNVindel,exonic,NCOA6,NA,synonymous SNV,"NCOA6:NM_014071:exon11:c.C3552T:p.P1184P,NCOA6:NM_001318240:exon12:c.C3552T:p.P1184P",NA,NA,NA,NA,NA,NA
chr20,33437840,33437840,C,T,R010_S,GGT7,Silent,NM_001351702,exon14,c.G1749A,p.L583L,SNP,SNVindel,exonic,GGT7,NA,synonymous SNV,"GGT7:NM_001351702:exon14:c.G1749A:p.L583L,GGT7:NM_178026:exon14:c.G1749A:p.L583L",NA,NA,NA,NA,NA,NA
chr20,33592297,33592297,G,A,R010_S,TRPC4AP,Silent,NM_015638,exon17,c.C2013T,p.R671R,SNP,SNVindel,exonic,TRPC4AP,NA,synonymous SNV,"TRPC4AP:NM_015638:exon17:c.C2013T:p.R671R,TRPC4AP:NM_199368:exon17:c.C1989T:p.R663R",NA,NA,NA,NA,NA,NA
chr20,33842519,33842519,C,T,R010_S,MMP24,Missense_Mutation,NM_006690,exon4,c.C779T,p.S260F,SNP,SNVindel,exonic,MMP24,NA,nonsynonymous SNV,MMP24:NM_006690:exon4:c.C779T:p.S260F,D,D,D,T,D,T
chr20,33876605,33876605,C,T,R010_S,FAM83C,Missense_Mutation,NM_178468,exon2,c.G670A,p.E224K,SNP,SNVindel,exonic,FAM83C,NA,nonsynonymous SNV,FAM83C:NM_178468:exon2:c.G670A:p.E224K,T,N,N,T,N,T
chr20,34085670,34085670,G,A,R010_S,CEP250,Nonsense_Mutation,NM_001318219,exon24,c.G1533A,p.W511X,SNP,SNVindel,exonic,CEP250,NA,stopgain,"CEP250:NM_001318219:exon24:c.G1533A:p.W511X,CEP250:NM_007186:exon26:c.G3429A:p.W1143X",.,N,A,.,.,.
chr20,34541855,34541855,C,T,R010_S,SCAND1,Missense_Mutation,NM_033630,exon2,c.G541A,p.D181N,SNP,SNVindel,exonic,SCAND1,NA,nonsynonymous SNV,"SCAND1:NM_033630:exon2:c.G541A:p.D181N,SCAND1:NM_016558:exon3:c.G352A:p.D118N",D,N,D,T,D,T
chr20,34572047,34572047,G,A,R010_S,CNBD2,Missense_Mutation,NM_001207076,exon5,c.G551A,p.G184D,SNP,SNVindel,exonic,CNBD2,NA,nonsynonymous SNV,"CNBD2:NM_001207076:exon5:c.G551A:p.G184D,CNBD2:NM_001365709:exon5:c.G551A:p.G184D,CNBD2:NM_080834:exon5:c.G551A:p.G184D",D,D,D,D,D,D
chr20,34828306,34828306,C,T,R010_S,AAR2,Silent,NM_001271874,exon2,c.C516T,p.D172D,SNP,SNVindel,exonic,AAR2,NA,synonymous SNV,"AAR2:NM_001271874:exon2:c.C516T:p.D172D,AAR2:NM_015511:exon2:c.C516T:p.D172D",NA,NA,NA,NA,NA,NA
chr20,35422458,35422458,C,T,R010_S,SOGA1,Missense_Mutation,NM_080627,exon14,c.G4027A,p.D1343N,SNP,SNVindel,exonic,SOGA1,NA,nonsynonymous SNV,SOGA1:NM_080627:exon14:c.G4027A:p.D1343N,D,D,D,T,D,T
chr20,36022354,36022354,C,T,R010_S,SRC,Missense_Mutation,NM_005417,exon6,c.C407T,p.P136L,SNP,SNVindel,exonic,SRC,NA,nonsynonymous SNV,"SRC:NM_005417:exon6:c.C407T:p.P136L,SRC:NM_198291:exon6:c.C407T:p.P136L",D,D,D,D,D,D
chr20,36151184,36151184,C,T,R010_S,NNAT,Silent,NM_001322802,exon3,c.C264T,p.G88G,SNP,SNVindel,exonic,NNAT,NA,synonymous SNV,NNAT:NM_001322802:exon3:c.C264T:p.G88G,NA,NA,NA,NA,NA,NA
chr20,37203464,37203464,C,T,R010_S,RALGAPB,Silent,NM_001282917,exon30,c.C4339T,p.L1447L,SNP,SNVindel,exonic,RALGAPB,NA,synonymous SNV,"RALGAPB:NM_001282917:exon30:c.C4339T:p.L1447L,RALGAPB:NM_001282918:exon30:c.C4330T:p.L1444L,RALGAPB:NM_020336:exon30:c.C4339T:p.L1447L",NA,NA,NA,NA,NA,NA
chr20,37267471,37267471,C,T,R010_S,ARHGAP40,Missense_Mutation,NM_001164431,exon8,c.C1106T,p.A369V,SNP,SNVindel,exonic,ARHGAP40,NA,nonsynonymous SNV,ARHGAP40:NM_001164431:exon8:c.C1106T:p.A369V,T,D,N,T,N,T
chr20,37621008,37621008,G,A,R010_S,DHX35,Missense_Mutation,NM_001190809,exon6,c.G429A,p.M143I,SNP,SNVindel,exonic,DHX35,NA,nonsynonymous SNV,"DHX35:NM_001190809:exon6:c.G429A:p.M143I,DHX35:NM_021931:exon7:c.G522A:p.M174I",T,D,D,T,D,T
chr20,39977499,39977499,C,T,R010_S,LPIN3,Missense_Mutation,NM_001301860,exon4,c.C529T,p.P177S,SNP,SNVindel,exonic,LPIN3,NA,nonsynonymous SNV,"LPIN3:NM_001301860:exon4:c.C529T:p.P177S,LPIN3:NM_022896:exon4:c.C529T:p.P177S",T,N,N,T,N,T
chr20,40043991,40043991,C,T,R010_S,CHD6,Silent,NM_032221,exon34,c.G6774A,p.G2258G,SNP,SNVindel,exonic,CHD6,NA,synonymous SNV,CHD6:NM_032221:exon34:c.G6774A:p.G2258G,NA,NA,NA,NA,NA,NA
chr20,40053999,40053999,G,A,R010_S,CHD6,Missense_Mutation,NM_032221,exon29,c.C4165T,p.P1389S,SNP,SNVindel,exonic,CHD6,NA,nonsynonymous SNV,CHD6:NM_032221:exon29:c.C4165T:p.P1389S,D,D,D,D,D,D
chr20,42169393,42169393,G,A,R010_S,L3MBTL1,Missense_Mutation,NM_015478,exon18,c.G2062A,p.V688I,SNP,SNVindel,exonic,L3MBTL1,NA,nonsynonymous SNV,"L3MBTL1:NM_015478:exon18:c.G2062A:p.V688I,L3MBTL1:NM_032107:exon21:c.G2266A:p.V756I",D,D,D,T,N,D
chr20,42213653,42213653,C,T,R010_S,SGK2,Silent,NM_016276,exon12,c.C1281T,p.C427C,SNP,SNVindel,exonic,SGK2,NA,synonymous SNV,"SGK2:NM_016276:exon12:c.C1281T:p.C427C,SGK2:NM_001199264:exon13:c.C1101T:p.C367C,SGK2:NM_170693:exon13:c.C1101T:p.C367C",NA,NA,NA,NA,NA,NA
chr20,42333939,42333939,G,A,R010_S,MYBL2,Silent,NM_001278610,exon8,c.G1374A,p.K458K,SNP,SNVindel,exonic,MYBL2,NA,synonymous SNV,"MYBL2:NM_001278610:exon8:c.G1374A:p.K458K,MYBL2:NM_002466:exon9:c.G1446A:p.K482K",NA,NA,NA,NA,NA,NA
chr20,42695446,42695446,G,A,R010_S,TOX2,Missense_Mutation,NM_001098798,exon7,c.G1379A,p.G460E,SNP,SNVindel,exonic,TOX2,NA,nonsynonymous SNV,"TOX2:NM_001098798:exon7:c.G1379A:p.G460E,TOX2:NM_001098796:exon8:c.G1307A:p.G436E,TOX2:NM_001098797:exon8:c.G1433A:p.G478E,TOX2:NM_032883:exon9:c.G1307A:p.G436E",T,N,N,T,N,T
chr20,42972056,42972056,G,A,R010_S,R3HDML,Silent,NM_178491,exon3,c.G420A,p.E140E,SNP,SNVindel,exonic,R3HDML,NA,synonymous SNV,R3HDML:NM_178491:exon3:c.G420A:p.E140E,NA,NA,NA,NA,NA,NA
chr20,43378921,43378921,C,T,R010_S,KCNK15,Silent,NM_022358,exon2,c.C435T,p.C145C,SNP,SNVindel,exonic,KCNK15,NA,synonymous SNV,KCNK15:NM_022358:exon2:c.C435T:p.C145C,NA,NA,NA,NA,NA,NA
chr20,43607122,43607122,C,T,R010_S,STK4,Missense_Mutation,NM_001352385,exon3,c.C155T,p.T52I,SNP,SNVindel,exonic,STK4,NA,nonsynonymous SNV,"STK4:NM_001352385:exon3:c.C155T:p.T52I,STK4:NM_006282:exon3:c.C155T:p.T52I",D,D,D,T,D,T
chr20,43945467,43945467,C,T,R010_S,RBPJL,Silent,NM_001281449,exon12,c.C1419T,p.T473T,SNP,SNVindel,exonic,RBPJL,NA,synonymous SNV,"RBPJL:NM_001281449:exon12:c.C1419T:p.T473T,RBPJL:NM_014276:exon12:c.C1422T:p.T474T",NA,NA,NA,NA,NA,NA
chr20,44163140,44163140,C,T,R010_S,WFDC6,Missense_Mutation,NM_080827,exon3,c.G227A,p.S76N,SNP,SNVindel,exonic,WFDC6,NA,nonsynonymous SNV,WFDC6:NM_080827:exon3:c.G227A:p.S76N,T,.,N,.,N,T
chr20,44505618,44505618,G,A,R010_S,ZSWIM3,Missense_Mutation,NM_080752,exon2,c.G421A,p.A141T,SNP,SNVindel,exonic,ZSWIM3,NA,nonsynonymous SNV,ZSWIM3:NM_080752:exon2:c.G421A:p.A141T,T,N,N,T,N,T
chr20,44511267,44511267,C,T,R010_S,ZSWIM1,Silent,NM_080603,exon2,c.C36T,p.A12A,SNP,SNVindel,exonic,ZSWIM1,NA,synonymous SNV,ZSWIM1:NM_080603:exon2:c.C36T:p.A12A,NA,NA,NA,NA,NA,NA
chr20,44533754,44533754,C,T,R010_S,PLTP,Missense_Mutation,NM_001242920,exon7,c.G424A,p.A142T,SNP,SNVindel,exonic,PLTP,NA,nonsynonymous SNV,"PLTP:NM_001242920:exon7:c.G424A:p.A142T,PLTP:NM_001242921:exon7:c.G445A:p.A149T,PLTP:NM_182676:exon8:c.G553A:p.A185T,PLTP:NM_006227:exon9:c.G709A:p.A237T",T,D,D,T,N,T
chr20,44569176,44569176,C,T,R010_S,PCIF1,Silent,NM_022104,exon5,c.C312T,p.P104P,SNP,SNVindel,exonic,PCIF1,NA,synonymous SNV,PCIF1:NM_022104:exon5:c.C312T:p.P104P,NA,NA,NA,NA,NA,NA
chr20,44596551,44596551,C,T,R010_S,ZNF335,Silent,NM_022095,exon5,c.G636A,p.G212G,SNP,SNVindel,exonic,ZNF335,NA,synonymous SNV,ZNF335:NM_022095:exon5:c.G636A:p.G212G,NA,NA,NA,NA,NA,NA
chr20,44699125,44699125,G,A,R010_S,NCOA5,Nonsense_Mutation,NM_001348150,exon3,c.C43T,p.Q15X,SNP,SNVindel,exonic,NCOA5,NA,stopgain,NCOA5:NM_001348150:exon3:c.C43T:p.Q15X,D,D,D,T,D,T
chr20,45853081,45853081,C,T,R010_S,ZMYND8,Missense_Mutation,NM_001281771,exon18,c.G2689A,p.A897T,SNP,SNVindel,exonic,ZMYND8,NA,nonsynonymous SNV,"ZMYND8:NM_001281771:exon18:c.G2689A:p.A897T,ZMYND8:NM_001281776:exon18:c.G2764A:p.A922T,ZMYND8:NM_001281781:exon18:c.G2791A:p.A931T,ZMYND8:NM_001281782:exon18:c.G2851A:p.A951T,ZMYND8:NM_001281784:exon18:c.G2929A:p.A977T,ZMYND8:NM_001281775:exon19:c.G3145A:p.A1049T,ZMYND8:NM_001281777:exon19:c.G2932A:p.A978T,ZMYND8:NM_001281778:exon19:c.G3070A:p.A1024T,ZMYND8:NM_001281783:exon19:c.G3145A:p.A1049T,ZMYND8:NM_001363714:exon19:c.G3166A:p.A1056T,ZMYND8:NM_012408:exon19:c.G3007A:p.A1003T,ZMYND8:NM_183047:exon19:c.G3007A:p.A1003T,ZMYND8:NM_183048:exon19:c.G2932A:p.A978T,ZMYND8:NM_001281773:exon20:c.G3085A:p.A1029T,ZMYND8:NM_001281774:exon20:c.G2947A:p.A983T,ZMYND8:NM_001281779:exon20:c.G2203A:p.A735T,ZMYND8:NM_001281780:exon20:c.G2203A:p.A735T,ZMYND8:NM_001363741:exon20:c.G3085A:p.A1029T,ZMYND8:NM_001281772:exon21:c.G3085A:p.A1029T",D,D,D,T,D,T
chr20,46293971,46293971,G,A,R010_S,SULF2,Missense_Mutation,NM_001161841,exon14,c.C1969T,p.P657S,SNP,SNVindel,exonic,SULF2,NA,nonsynonymous SNV,"SULF2:NM_001161841:exon14:c.C1969T:p.P657S,SULF2:NM_018837:exon14:c.C1969T:p.P657S,SULF2:NM_198596:exon14:c.C1969T:p.P657S",T,D,D,D,D,D
chr20,47872432,47872432,C,T,R010_S,ZNFX1,Missense_Mutation,NM_021035,exon9,c.G2717A,p.R906H,SNP,SNVindel,exonic,ZNFX1,NA,nonsynonymous SNV,ZNFX1:NM_021035:exon9:c.G2717A:p.R906H,T,N,N,T,N,T
chr20,47886547,47886547,G,A,R010_S,ZNFX1,Missense_Mutation,NM_021035,exon3,c.C1802T,p.S601F,SNP,SNVindel,exonic,ZNFX1,NA,nonsynonymous SNV,ZNFX1:NM_021035:exon3:c.C1802T:p.S601F,D,D,D,T,D,D
chr20,48744639,48744639,C,T,R010_S,TMEM189,Nonsense_Mutation,NM_001162505,exon5,c.G555A,p.W185X,SNP,SNVindel,exonic,TMEM189;TMEM189-UBE2V1,NA,stopgain,"TMEM189:NM_001162505:exon5:c.G555A:p.W185X,TMEM189:NM_199129:exon5:c.G564A:p.W188X,TMEM189-UBE2V1:NM_199203:exon5:c.G564A:p.W188X",.,U,A,.,.,.
chr20,49204399,49204399,G,A,R010_S,RIPOR3,Silent,NM_001290268,exon21,c.C2692T,p.L898L,SNP,SNVindel,exonic,RIPOR3,NA,synonymous SNV,"RIPOR3:NM_001290268:exon21:c.C2692T:p.L898L,RIPOR3:NM_080829:exon21:c.C2680T:p.L894L",NA,NA,NA,NA,NA,NA
chr20,49236591,49236591,C,T,R010_S,RIPOR3,Silent,NM_001290268,exon3,c.G201A,p.G67G,SNP,SNVindel,exonic,RIPOR3,NA,synonymous SNV,"RIPOR3:NM_001290268:exon3:c.G201A:p.G67G,RIPOR3:NM_080829:exon3:c.G189A:p.G63G",NA,NA,NA,NA,NA,NA
chr20,50701483,50701483,G,A,R010_S,ZFP64,Silent,NM_001319146,exon5,c.C894T,p.H298H,SNP,SNVindel,exonic,ZFP64,NA,synonymous SNV,"ZFP64:NM_001319146:exon5:c.C894T:p.H298H,ZFP64:NM_199427:exon9:c.C1551T:p.H517H",NA,NA,NA,NA,NA,NA
chr20,50769355,50769355,G,A,R010_S,ZFP64,Missense_Mutation,NM_022088,exon5,c.C1214T,p.T405I,SNP,SNVindel,exonic,ZFP64,NA,nonsynonymous SNV,"ZFP64:NM_022088:exon5:c.C1214T:p.T405I,ZFP64:NM_018197:exon6:c.C1376T:p.T459I,ZFP64:NM_199426:exon6:c.C1370T:p.T457I",T,N,N,T,N,T
chr20,50769545,50769545,C,T,R010_S,ZFP64,Missense_Mutation,NM_022088,exon5,c.G1024A,p.D342N,SNP,SNVindel,exonic,ZFP64,NA,nonsynonymous SNV,"ZFP64:NM_022088:exon5:c.G1024A:p.D342N,ZFP64:NM_018197:exon6:c.G1186A:p.D396N,ZFP64:NM_199426:exon6:c.G1180A:p.D394N",D,D,D,T,N,T
chr20,53092550,53092550,G,A,R010_S,DOK5,Missense_Mutation,NM_001294161,exon1,c.G65A,p.G22E,SNP,SNVindel,exonic,DOK5,NA,nonsynonymous SNV,"DOK5:NM_001294161:exon1:c.G65A:p.G22E,DOK5:NM_018431:exon1:c.G65A:p.G22E",D,N,D,D,D,T
chr20,54978629,54978629,G,A,R010_S,CSTF1,Nonsense_Mutation,NM_001033521,exon6,c.G1142A,p.W381X,SNP,SNVindel,exonic,CSTF1,NA,stopgain,"CSTF1:NM_001033521:exon6:c.G1142A:p.W381X,CSTF1:NM_001033522:exon6:c.G1142A:p.W381X,CSTF1:NM_001324:exon6:c.G1142A:p.W381X",.,D,D,.,.,.
chr20,56185303,56185303,G,A,R010_S,ZBP1,Missense_Mutation,NM_001160418,exon6,c.C770T,p.A257V,SNP,SNVindel,exonic,ZBP1,NA,nonsynonymous SNV,"ZBP1:NM_001160418:exon6:c.C770T:p.A257V,ZBP1:NM_001160417:exon7:c.C992T:p.A331V,ZBP1:NM_030776:exon7:c.C995T:p.A332V",T,N,P,T,N,T
chr20,57767876,57767876,G,A,R010_S,ZNF831,Missense_Mutation,NM_178457,exon1,c.G1802A,p.R601K,SNP,SNVindel,exonic,ZNF831,NA,nonsynonymous SNV,ZNF831:NM_178457:exon1:c.G1802A:p.R601K,T,N,N,T,N,T
chr20,57768121,57768121,G,A,R010_S,ZNF831,Missense_Mutation,NM_178457,exon1,c.G2047A,p.D683N,SNP,SNVindel,exonic,ZNF831,NA,nonsynonymous SNV,ZNF831:NM_178457:exon1:c.G2047A:p.D683N,D,N,N,T,N,T
chr20,58456545,58456545,G,A,R010_S,SYCP2,Silent,NM_014258,exon29,c.C2661T,p.I887I,SNP,SNVindel,exonic,SYCP2,NA,synonymous SNV,SYCP2:NM_014258:exon29:c.C2661T:p.I887I,NA,NA,NA,NA,NA,NA
chr20,60908529,60908529,C,T,R010_S,LAMA5,Silent,NM_005560,exon25,c.G3030A,p.V1010V,SNP,SNVindel,exonic,LAMA5,NA,synonymous SNV,LAMA5:NM_005560:exon25:c.G3030A:p.V1010V,NA,NA,NA,NA,NA,NA
chr20,60989421,60989421,G,A,R010_S,RBBP8NL,Missense_Mutation,NM_080833,exon10,c.C986T,p.A329V,SNP,SNVindel,exonic,RBBP8NL,NA,nonsynonymous SNV,RBBP8NL:NM_080833:exon10:c.C986T:p.A329V,T,N,N,T,N,T
chr20,61467848,61467848,C,T,R010_S,COL9A3,Nonsense_Mutation,NM_001853,exon29,c.C1567T,p.Q523X,SNP,SNVindel,exonic,COL9A3,NA,stopgain,COL9A3:NM_001853:exon29:c.C1567T:p.Q523X,.,D,A,.,.,.
chr20,61869951,61869951,C,T,R010_S,BIRC7,Missense_Mutation,NM_022161,exon4,c.C562T,p.P188S,SNP,SNVindel,exonic,BIRC7,NA,nonsynonymous SNV,"BIRC7:NM_022161:exon4:c.C562T:p.P188S,BIRC7:NM_139317:exon4:c.C562T:p.P188S",T,N,N,T,N,T
chr20,62174687,62174687,G,A,R010_S,SRMS,Silent,NM_080823,exon3,c.C625T,p.L209L,SNP,SNVindel,exonic,SRMS,NA,synonymous SNV,SRMS:NM_080823:exon3:c.C625T:p.L209L,NA,NA,NA,NA,NA,NA
chr20,62196374,62196374,G,A,R010_S,HELZ2,Silent,NM_033405,exon3,c.C2094T,p.V698V,SNP,SNVindel,exonic,HELZ2,NA,synonymous SNV,"HELZ2:NM_033405:exon3:c.C2094T:p.V698V,HELZ2:NM_001037335:exon9:c.C3801T:p.V1267V",NA,NA,NA,NA,NA,NA
chr20,62199788,62199788,G,A,R010_S,HELZ2,Silent,NM_001037335,exon6,c.C1653T,p.T551T,SNP,SNVindel,exonic,HELZ2,NA,synonymous SNV,HELZ2:NM_001037335:exon6:c.C1653T:p.T551T,NA,NA,NA,NA,NA,NA
chr20,62293840,62293840,G,A,R010_S,RTEL1,Missense_Mutation,NM_032957,exon5,c.G409A,p.A137T,SNP,SNVindel,exonic,RTEL1,NA,nonsynonymous SNV,RTEL1:NM_032957:exon5:c.G409A:p.A137T,D,.,N,T,N,T
chr20,62326862,62326862,G,A,R010_S,RTEL1,Silent,NM_001283009,exon34,c.G3681A,p.G1227G,SNP,SNVindel,exonic,RTEL1,NA,synonymous SNV,RTEL1:NM_001283009:exon34:c.G3681A:p.G1227G,NA,NA,NA,NA,NA,NA
chr20,62374113,62374113,C,T,R010_S,SLC2A4RG,Missense_Mutation,NM_020062,exon7,c.C1022T,p.A341V,SNP,SNVindel,exonic,SLC2A4RG,NA,nonsynonymous SNV,SLC2A4RG:NM_020062:exon7:c.C1022T:p.A341V,T,U,N,T,N,T
chr20,62572484,62572484,C,T,R010_S,UCKL1,Missense_Mutation,NM_001193379,exon9,c.G956A,p.R319Q,SNP,SNVindel,exonic,UCKL1,NA,nonsynonymous SNV,"UCKL1:NM_001193379:exon9:c.G956A:p.R319Q,UCKL1:NM_001353475:exon9:c.G1004A:p.R335Q,UCKL1:NM_001353476:exon9:c.G1001A:p.R334Q,UCKL1:NM_001353477:exon9:c.G998A:p.R333Q,UCKL1:NM_001353478:exon9:c.G956A:p.R319Q,UCKL1:NM_001353479:exon9:c.G953A:p.R318Q,UCKL1:NM_001353480:exon9:c.G647A:p.R216Q,UCKL1:NM_001353481:exon9:c.G377A:p.R126Q,UCKL1:NM_001353482:exon9:c.G377A:p.R126Q,UCKL1:NM_017859:exon9:c.G1001A:p.R334Q",T,D,D,.,N,T
chr20,62657319,62657319,C,T,R010_S,PRPF6,Silent,NM_012469,exon15,c.C1936T,p.L646L,SNP,SNVindel,exonic,PRPF6,NA,synonymous SNV,PRPF6:NM_012469:exon15:c.C1936T:p.L646L,NA,NA,NA,NA,NA,NA
chr20,62679811,62679811,C,T,R010_S,SOX18,Missense_Mutation,NM_018419,exon2,c.G863A,p.G288D,SNP,SNVindel,exonic,SOX18,NA,nonsynonymous SNV,SOX18:NM_018419:exon2:c.G863A:p.G288D,T,U,N,T,N,T
chr20,62729956,62729956,C,T,R010_S,OPRL1,Missense_Mutation,NM_001318854,exon3,c.C902T,p.A301V,SNP,SNVindel,exonic,OPRL1,NA,nonsynonymous SNV,"OPRL1:NM_001318854:exon3:c.C902T:p.A301V,OPRL1:NM_001318855:exon3:c.C830T:p.A277V,OPRL1:NM_000913:exon4:c.C917T:p.A306V,OPRL1:NM_182647:exon5:c.C917T:p.A306V,OPRL1:NM_001200019:exon6:c.C917T:p.A306V",T,D,D,T,N,T
chr21,16340161,16340161,C,T,R010_S,NRIP1,Missense_Mutation,NM_003489,exon4,c.G353A,p.G118D,SNP,SNVindel,exonic,NRIP1,NA,nonsynonymous SNV,NRIP1:NM_003489:exon4:c.G353A:p.G118D,D,D,D,T,D,T
chr21,17163831,17163831,G,A,R010_S,USP25,Missense_Mutation,NM_001283041,exon5,c.G403A,p.A135T,SNP,SNVindel,exonic,USP25,NA,nonsynonymous SNV,"USP25:NM_001283041:exon5:c.G403A:p.A135T,USP25:NM_001283042:exon5:c.G403A:p.A135T,USP25:NM_013396:exon5:c.G403A:p.A135T",D,D,D,T,N,T
chr21,22804595,22804595,G,A,R010_S,NCAM2,Missense_Mutation,NM_001352595,exon9,c.G1222A,p.V408I,SNP,SNVindel,exonic,NCAM2,NA,nonsynonymous SNV,"NCAM2:NM_001352595:exon9:c.G1222A:p.V408I,NCAM2:NM_001352591:exon12:c.G1648A:p.V550I,NCAM2:NM_001352593:exon12:c.G1648A:p.V550I,NCAM2:NM_001352594:exon12:c.G1648A:p.V550I,NCAM2:NM_001352596:exon12:c.G1648A:p.V550I,NCAM2:NM_004540:exon12:c.G1648A:p.V550I,NCAM2:NM_001352592:exon13:c.G1723A:p.V575I",T,N,D,T,N,T
chr21,27347421,27347421,C,T,R010_S,APP,Missense_Mutation,NM_001136129,exon8,c.G1027A,p.E343K,SNP,SNVindel,exonic,APP,NA,nonsynonymous SNV,"APP:NM_001136129:exon8:c.G1027A:p.E343K,APP:NM_001136131:exon9:c.G1090A:p.E364K,APP:NM_001204303:exon9:c.G1195A:p.E399K,APP:NM_201414:exon9:c.G1195A:p.E399K,APP:NM_001136016:exon10:c.G1348A:p.E450K,APP:NM_001136130:exon10:c.G1252A:p.E418K,APP:NM_001204302:exon10:c.G1363A:p.E455K,APP:NM_201413:exon10:c.G1363A:p.E455K,APP:NM_000484:exon11:c.G1420A:p.E474K,APP:NM_001204301:exon11:c.G1420A:p.E474K",D,D,D,T,D,T
chr21,30359189,30359189,C,T,R010_S,LTN1,Missense_Mutation,NM_001320766,exon2,c.G109A,p.G37S,SNP,SNVindel,exonic,LTN1,NA,nonsynonymous SNV,"LTN1:NM_001320766:exon2:c.G109A:p.G37S,LTN1:NM_015565:exon2:c.G109A:p.G37S",D,D,D,T,D,T
chr21,30432924,30432924,C,T,R010_S,CCT8,Missense_Mutation,NM_001282909,exon13,c.G1288A,p.G430R,SNP,SNVindel,exonic,CCT8,NA,nonsynonymous SNV,"CCT8:NM_001282909:exon13:c.G1288A:p.G430R,CCT8:NM_001282908:exon14:c.G1354A:p.G452R,CCT8:NM_006585:exon14:c.G1507A:p.G503R,CCT8:NM_001282907:exon15:c.G1450A:p.G484R",D,D,D,T,N,T
chr21,31933512,31933512,G,A,R010_S,KRTAP19-7,Missense_Mutation,NM_181614,exon1,c.C97T,p.R33C,SNP,SNVindel,exonic,KRTAP19-7,NA,nonsynonymous SNV,KRTAP19-7:NM_181614:exon1:c.C97T:p.R33C,.,.,N,T,N,T
chr21,32253724,32253724,G,A,R010_S,KRTAP11-1,Silent,NM_175858,exon1,c.C120T,p.I40I,SNP,SNVindel,exonic,KRTAP11-1,NA,synonymous SNV,KRTAP11-1:NM_175858:exon1:c.C120T:p.I40I,NA,NA,NA,NA,NA,NA
chr21,34018807,34018807,G,A,R010_S,SYNJ1,Missense_Mutation,NM_001160306,exon23,c.C3128T,p.T1043I,SNP,SNVindel,exonic,SYNJ1,NA,nonsynonymous SNV,"SYNJ1:NM_001160306:exon23:c.C3128T:p.T1043I,SYNJ1:NM_001160302:exon24:c.C3143T:p.T1048I,SYNJ1:NM_003895:exon24:c.C3260T:p.T1087I,SYNJ1:NM_203446:exon24:c.C3260T:p.T1087I",T,N,D,D,N,D
chr21,34022581,34022581,C,T,R010_S,SYNJ1,Missense_Mutation,NM_001160306,exon22,c.G2935A,p.E979K,SNP,SNVindel,exonic,SYNJ1,NA,nonsynonymous SNV,"SYNJ1:NM_001160306:exon22:c.G2935A:p.E979K,SYNJ1:NM_001160302:exon23:c.G2950A:p.E984K,SYNJ1:NM_003895:exon23:c.G3067A:p.E1023K,SYNJ1:NM_203446:exon23:c.G3067A:p.E1023K",T,D,D,D,N,D
chr21,34143640,34143640,C,T,R010_S,PAXBP1,Missense_Mutation,NM_013329,exon1,c.G340A,p.E114K,SNP,SNVindel,exonic,PAXBP1,NA,nonsynonymous SNV,"PAXBP1:NM_013329:exon1:c.G340A:p.E114K,PAXBP1:NM_016631:exon1:c.G340A:p.E114K",T,N,D,T,N,T
chr21,34715707,34715707,G,A,R010_S,IFNAR1,Nonsense_Mutation,NM_000629,exon4,c.G510A,p.W170X,SNP,SNVindel,exonic,IFNAR1,NA,stopgain,IFNAR1:NM_000629:exon4:c.G510A:p.W170X,.,D,A,.,.,.
chr21,34726050,34726050,C,T,R010_S,IFNAR1,Silent,NM_000629,exon10,c.C1401T,p.V467V,SNP,SNVindel,exonic,IFNAR1,NA,synonymous SNV,IFNAR1:NM_000629:exon10:c.C1401T:p.V467V,NA,NA,NA,NA,NA,NA
chr21,34883602,34883602,C,T,R010_S,GART,Silent,NM_000819,exon17,c.G2271A,p.K757K,SNP,SNVindel,exonic,GART,NA,synonymous SNV,"GART:NM_000819:exon17:c.G2271A:p.K757K,GART:NM_001136005:exon17:c.G2271A:p.K757K,GART:NM_001136006:exon17:c.G2271A:p.K757K",NA,NA,NA,NA,NA,NA
chr21,35773292,35773292,G,A,R010_S,FAM243A,Missense_Mutation,NM_001282537,exon1,c.C79T,p.L27F,SNP,SNVindel,exonic,FAM243A;FAM243B,NA,nonsynonymous SNV,"FAM243A:NM_001282537:exon1:c.C79T:p.L27F,FAM243B:NM_001364711:exon1:c.C79T:p.L27F",D,.,D,T,D,T
chr21,36171633,36171633,G,A,R010_S,RUNX1,Missense_Mutation,NM_001001890,exon5,c.C851T,p.T284I,SNP,SNVindel,exonic,RUNX1,NA,nonsynonymous SNV,"RUNX1:NM_001001890:exon5:c.C851T:p.T284I,RUNX1:NM_001754:exon8:c.C932T:p.T311I",D,D,D,T,N,T
chr21,37600044,37600044,C,T,R010_S,DOP1B,Missense_Mutation,NM_001320714,exon13,c.C1534T,p.P512S,SNP,SNVindel,exonic,DOP1B,NA,nonsynonymous SNV,"DOP1B:NM_001320714:exon13:c.C1534T:p.P512S,DOP1B:NM_005128:exon13:c.C1534T:p.P512S",T,N,N,T,N,T
chr21,37617398,37617398,C,T,R010_S,DOP1B,Silent,NM_001320714,exon19,c.C3120T,p.C1040C,SNP,SNVindel,exonic,DOP1B,NA,synonymous SNV,"DOP1B:NM_001320714:exon19:c.C3120T:p.C1040C,DOP1B:NM_005128:exon19:c.C3120T:p.C1040C",NA,NA,NA,NA,NA,NA
chr21,37783786,37783786,C,T,R010_S,CHAF1B,Silent,NM_005441,exon11,c.C945T,p.Y315Y,SNP,SNVindel,exonic,CHAF1B,NA,synonymous SNV,CHAF1B:NM_005441:exon11:c.C945T:p.Y315Y,NA,NA,NA,NA,NA,NA
chr21,37833608,37833608,C,T,R010_S,CLDN14,Missense_Mutation,NM_001146079,exon2,c.G386A,p.G129D,SNP,SNVindel,exonic,CLDN14,NA,nonsynonymous SNV,"CLDN14:NM_001146079:exon2:c.G386A:p.G129D,CLDN14:NM_012130:exon2:c.G386A:p.G129D,CLDN14:NM_001146077:exon3:c.G386A:p.G129D,CLDN14:NM_001146078:exon3:c.G386A:p.G129D,CLDN14:NM_144492:exon3:c.G386A:p.G129D",D,D,D,D,D,D
chr21,38600571,38600571,G,A,R010_S,VPS26C,Missense_Mutation,NM_001331018,exon3,c.C236T,p.A79V,SNP,SNVindel,exonic,VPS26C,NA,nonsynonymous SNV,"VPS26C:NM_001331018:exon3:c.C236T:p.A79V,VPS26C:NM_001331021:exon5:c.C467T:p.A156V,VPS26C:NM_001331022:exon5:c.C530T:p.A177V,VPS26C:NM_006052:exon6:c.C611T:p.A204V",T,D,D,.,N,T
chr21,38884530,38884530,C,T,R010_S,DYRK1A,Missense_Mutation,NM_001347723,exon11,c.C1874T,p.T625I,SNP,SNVindel,exonic,DYRK1A,NA,nonsynonymous SNV,"DYRK1A:NM_001347723:exon11:c.C1874T:p.T625I,DYRK1A:NM_130436:exon11:c.C1961T:p.T654I,DYRK1A:NM_001347721:exon12:c.C1961T:p.T654I,DYRK1A:NM_001347722:exon12:c.C1961T:p.T654I,DYRK1A:NM_001396:exon12:c.C1988T:p.T663I",D,D,D,T,N,T
chr21,41496176,41496176,C,T,R010_S,DSCAM,Silent,NM_001271534,exon20,c.G3642A,p.K1214K,SNP,SNVindel,exonic,DSCAM,NA,synonymous SNV,"DSCAM:NM_001271534:exon20:c.G3642A:p.K1214K,DSCAM:NM_001389:exon20:c.G3642A:p.K1214K",NA,NA,NA,NA,NA,NA
chr21,42540399,42540399,C,T,R010_S,BACE2,Missense_Mutation,NM_012105,exon1,c.C209T,p.S70F,SNP,SNVindel,exonic,BACE2,NA,nonsynonymous SNV,"BACE2:NM_012105:exon1:c.C209T:p.S70F,BACE2:NM_138991:exon1:c.C209T:p.S70F,BACE2:NM_138992:exon1:c.C209T:p.S70F",D,.,N,T,N,T
chr21,43243792,43243792,C,T,R010_S,PRDM15,Missense_Mutation,NM_001040424,exon14,c.G1754A,p.R585Q,SNP,SNVindel,exonic,PRDM15,NA,nonsynonymous SNV,"PRDM15:NM_001040424:exon14:c.G1754A:p.R585Q,PRDM15:NM_001282934:exon15:c.G1814A:p.R605Q,PRDM15:NM_022115:exon21:c.G2741A:p.R914Q",D,.,D,T,N,D
chr21,43246320,43246320,C,T,R010_S,PRDM15,Missense_Mutation,NM_001040424,exon13,c.G1736A,p.G579D,SNP,SNVindel,exonic,PRDM15,NA,nonsynonymous SNV,"PRDM15:NM_001040424:exon13:c.G1736A:p.G579D,PRDM15:NM_001282934:exon14:c.G1796A:p.G599D,PRDM15:NM_022115:exon20:c.G2723A:p.G908D",D,.,D,T,D,D
chr21,43246330,43246330,G,A,R010_S,PRDM15,Missense_Mutation,NM_001040424,exon13,c.C1726T,p.P576S,SNP,SNVindel,exonic,PRDM15,NA,nonsynonymous SNV,"PRDM15:NM_001040424:exon13:c.C1726T:p.P576S,PRDM15:NM_001282934:exon14:c.C1786T:p.P596S,PRDM15:NM_022115:exon20:c.C2713T:p.P905S",T,.,D,T,N,T
chr21,43531191,43531191,G,A,R010_S,UMODL1,Missense_Mutation,NM_001004416,exon11,c.G1859A,p.G620E,SNP,SNVindel,exonic,UMODL1,NA,nonsynonymous SNV,"UMODL1:NM_001004416:exon11:c.G1859A:p.G620E,UMODL1:NM_001199527:exon11:c.G1643A:p.G548E,UMODL1:NM_001199528:exon11:c.G1643A:p.G548E,UMODL1:NM_173568:exon11:c.G1859A:p.G620E",T,N,N,T,N,T
chr21,43645834,43645834,G,A,R010_S,ABCG1,Silent,NM_004915,exon2,c.G96A,p.S32S,SNP,SNVindel,exonic,ABCG1,NA,synonymous SNV,"ABCG1:NM_004915:exon2:c.G96A:p.S32S,ABCG1:NM_016818:exon2:c.G96A:p.S32S,ABCG1:NM_207174:exon2:c.G129A:p.S43S,ABCG1:NM_207629:exon2:c.G87A:p.S29S,ABCG1:NM_207627:exon3:c.G102A:p.S34S,ABCG1:NM_207628:exon4:c.G30A:p.S10S",NA,NA,NA,NA,NA,NA
chr21,43708353,43708353,C,T,R010_S,ABCG1,Silent,NM_004915,exon10,c.C1191T,p.F397F,SNP,SNVindel,exonic,ABCG1,NA,synonymous SNV,"ABCG1:NM_004915:exon10:c.C1191T:p.F397F,ABCG1:NM_016818:exon10:c.C1155T:p.F385F,ABCG1:NM_207174:exon10:c.C1188T:p.F396F,ABCG1:NM_207629:exon10:c.C1146T:p.F382F,ABCG1:NM_207627:exon11:c.C1161T:p.F387F,ABCG1:NM_207628:exon12:c.C1089T:p.F363F",NA,NA,NA,NA,NA,NA
chr21,43852252,43852252,G,A,R010_S,UBASH3A,Missense_Mutation,NM_001001895,exon8,c.G1097A,p.G366E,SNP,SNVindel,exonic,UBASH3A,NA,nonsynonymous SNV,"UBASH3A:NM_001001895:exon8:c.G1097A:p.G366E,UBASH3A:NM_001243467:exon8:c.G1097A:p.G366E,UBASH3A:NM_018961:exon9:c.G1211A:p.G404E",D,D,D,T,D,D
chr21,43897439,43897439,G,A,R010_S,RSPH1,Missense_Mutation,NM_001286506,exon6,c.C575T,p.S192F,SNP,SNVindel,exonic,RSPH1,NA,nonsynonymous SNV,"RSPH1:NM_001286506:exon6:c.C575T:p.S192F,RSPH1:NM_080860:exon7:c.C689T:p.S230F",T,N,N,T,N,T
chr21,44299554,44299554,C,T,R010_S,WDR4,Missense_Mutation,NM_001260474,exon1,c.G52A,p.G18S,SNP,SNVindel,exonic,WDR4,NA,nonsynonymous SNV,"WDR4:NM_001260474:exon1:c.G52A:p.G18S,WDR4:NM_018669:exon1:c.G52A:p.G18S,WDR4:NM_033661:exon1:c.G52A:p.G18S",T,D,D,T,N,T
chr21,44513343,44513343,G,A,R010_S,U2AF1,Nonsense_Mutation,NM_001025203,exon8,c.C592T,p.R198X,SNP,SNVindel,exonic,U2AF1;U2AF1L5,NA,stopgain,"U2AF1:NM_001025203:exon8:c.C592T:p.R198X,U2AF1L5:NM_001320646:exon8:c.C592T:p.R198X,U2AF1L5:NM_001320648:exon8:c.C592T:p.R198X,U2AF1L5:NM_001320650:exon8:c.C478T:p.R160X,U2AF1:NM_006758:exon8:c.C592T:p.R198X,U2AF1:NM_001025204:exon9:c.C373T:p.R125X,U2AF1L5:NM_001320651:exon9:c.C373T:p.R125X",.,D,D,.,.,.
chr21,45389028,45389028,G,A,R010_S,AGPAT3,Silent,NM_001037553,exon4,c.G378A,p.L126L,SNP,SNVindel,exonic,AGPAT3,NA,synonymous SNV,"AGPAT3:NM_001037553:exon4:c.G378A:p.L126L,AGPAT3:NM_001369878:exon4:c.G378A:p.L126L,AGPAT3:NM_001369880:exon4:c.G378A:p.L126L,AGPAT3:NM_001369881:exon5:c.G192A:p.L64L,AGPAT3:NM_020132:exon5:c.G378A:p.L126L",NA,NA,NA,NA,NA,NA
chr21,45544493,45544493,G,A,R010_S,LOC102724159,Missense_Mutation,NM_001368238,exon15,c.G1850A,p.G617D,SNP,SNVindel,exonic,LOC102724159;PWP2,NA,nonsynonymous SNV,"LOC102724159:NM_001368238:exon15:c.G1850A:p.G617D,PWP2:NM_005049:exon15:c.G1850A:p.G617D",.,.,.,.,.,.
chr21,47333935,47333935,G,A,R010_S,PCBP3,Missense_Mutation,NM_020528,exon8,c.G671A,p.G224D,SNP,SNVindel,exonic,PCBP3,NA,nonsynonymous SNV,"PCBP3:NM_020528:exon8:c.G671A:p.G224D,PCBP3:NM_001348244:exon9:c.G671A:p.G224D,PCBP3:NM_001348245:exon9:c.G671A:p.G224D,PCBP3:NM_001348238:exon11:c.G671A:p.G224D,PCBP3:NM_001348240:exon11:c.G671A:p.G224D,PCBP3:NM_001348243:exon11:c.G671A:p.G224D,PCBP3:NM_001348239:exon12:c.G671A:p.G224D,PCBP3:NM_001348242:exon12:c.G575A:p.G192D",D,D,D,T,D,T
chr21,47406487,47406487,G,A,R010_S,COL6A1,Missense_Mutation,NM_001848,exon4,c.G476A,p.G159E,SNP,SNVindel,exonic,COL6A1,NA,nonsynonymous SNV,COL6A1:NM_001848:exon4:c.G476A:p.G159E,D,D,D,D,D,D
chr21,47680799,47680799,C,T,R010_S,MCM3AP,Silent,NM_003906,exon15,c.G3489A,p.L1163L,SNP,SNVindel,exonic,MCM3AP,NA,synonymous SNV,MCM3AP:NM_003906:exon15:c.G3489A:p.L1163L,NA,NA,NA,NA,NA,NA
chr21,47685280,47685280,C,T,R010_S,MCM3AP,Silent,NM_003906,exon12,c.G3189A,p.Q1063Q,SNP,SNVindel,exonic,MCM3AP,NA,synonymous SNV,MCM3AP:NM_003906:exon12:c.G3189A:p.Q1063Q,NA,NA,NA,NA,NA,NA
chr21,47692518,47692518,C,T,R010_S,MCM3AP,Missense_Mutation,NM_003906,exon8,c.G2422A,p.G808S,SNP,SNVindel,exonic,MCM3AP,NA,nonsynonymous SNV,MCM3AP:NM_003906:exon8:c.G2422A:p.G808S,D,D,D,T,N,T
chr21,47831443,47831443,C,T,R010_S,PCNT,Missense_Mutation,NM_001315529,exon28,c.C5102T,p.A1701V,SNP,SNVindel,exonic,PCNT,NA,nonsynonymous SNV,"PCNT:NM_001315529:exon28:c.C5102T:p.A1701V,PCNT:NM_006031:exon28:c.C5456T:p.A1819V",T,N,N,T,N,T
chr22,17601139,17601139,C,T,R010_S,TMEM121B,Silent,NM_031890,exon1,c.G879A,p.G293G,SNP,SNVindel,exonic,TMEM121B,NA,synonymous SNV,TMEM121B:NM_031890:exon1:c.G879A:p.G293G,NA,NA,NA,NA,NA,NA
chr22,18070791,18070791,G,A,R010_S,SLC25A18,Missense_Mutation,NM_001303484,exon8,c.G676A,p.V226M,SNP,SNVindel,exonic,SLC25A18,NA,nonsynonymous SNV,"SLC25A18:NM_001303484:exon8:c.G676A:p.V226M,SLC25A18:NM_031481:exon9:c.G676A:p.V226M",T,N,N,T,N,T
chr22,19220772,19220772,G,A,R010_S,CLTCL1,Missense_Mutation,NM_001835,exon9,c.C1438T,p.L480F,SNP,SNVindel,exonic,CLTCL1,NA,nonsynonymous SNV,"CLTCL1:NM_001835:exon9:c.C1438T:p.L480F,CLTCL1:NM_007098:exon9:c.C1438T:p.L480F",D,D,D,T,D,T
chr22,19864661,19864661,G,A,R010_S,TXNRD2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TXNRD2,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr22,19978249,19978249,G,A,R010_S,ARVCF,Silent,NM_001670,exon3,c.C69T,p.F23F,SNP,SNVindel,exonic,ARVCF,NA,synonymous SNV,ARVCF:NM_001670:exon3:c.C69T:p.F23F,NA,NA,NA,NA,NA,NA
chr22,20077589,20077589,C,T,R010_S,DGCR8,Missense_Mutation,NM_001190326,exon5,c.C1114T,p.P372S,SNP,SNVindel,exonic,DGCR8,NA,nonsynonymous SNV,"DGCR8:NM_001190326:exon5:c.C1114T:p.P372S,DGCR8:NM_022720:exon5:c.C1114T:p.P372S",T,N,D,T,N,T
chr22,20103685,20103685,C,T,R010_S,TRMT2A,Missense_Mutation,NM_001257994,exon2,c.G475A,p.G159S,SNP,SNVindel,exonic,TRMT2A,NA,nonsynonymous SNV,"TRMT2A:NM_001257994:exon2:c.G475A:p.G159S,TRMT2A:NM_001331039:exon2:c.G475A:p.G159S,TRMT2A:NM_022727:exon2:c.G475A:p.G159S,TRMT2A:NM_182984:exon3:c.G475A:p.G159S",T,N,D,T,N,T
chr22,20843330,20843330,C,T,R010_S,KLHL22,Missense_Mutation,NM_032775,exon2,c.G169A,p.E57K,SNP,SNVindel,exonic,KLHL22,NA,nonsynonymous SNV,KLHL22:NM_032775:exon2:c.G169A:p.E57K,D,N,D,T,D,T
chr22,21119475,21119475,C,T,R010_S,PI4KA,Silent,NM_001362863,exon20,c.G2421A,p.K807K,SNP,SNVindel,exonic,PI4KA,NA,synonymous SNV,"PI4KA:NM_001362863:exon20:c.G2421A:p.K807K,PI4KA:NM_001362862:exon21:c.G2487A:p.K829K,PI4KA:NM_058004:exon21:c.G2487A:p.K829K",NA,NA,NA,NA,NA,NA
chr22,21376983,21376983,G,A,R010_S,P2RX6,Missense_Mutation,NM_001159554,exon4,c.G328A,p.A110T,SNP,SNVindel,exonic,P2RX6,NA,nonsynonymous SNV,"P2RX6:NM_001159554:exon4:c.G328A:p.A110T,P2RX6:NM_005446:exon4:c.G406A:p.A136T",T,N,D,T,N,T
chr22,22142990,22142990,G,A,R010_S,MAPK1,Silent,NM_002745,exon5,c.C717T,p.H239H,SNP,SNVindel,exonic,MAPK1,NA,synonymous SNV,"MAPK1:NM_002745:exon5:c.C717T:p.H239H,MAPK1:NM_138957:exon5:c.C717T:p.H239H",NA,NA,NA,NA,NA,NA
chr22,22287853,22287853,G,A,R010_S,PPM1F,Silent,NM_014634,exon5,c.C657T,p.R219R,SNP,SNVindel,exonic,PPM1F,NA,synonymous SNV,PPM1F:NM_014634:exon5:c.C657T:p.R219R,NA,NA,NA,NA,NA,NA
chr22,22324654,22324654,G,A,R010_S,TOP3B,Missense_Mutation,NM_001282112,exon6,c.C509T,p.P170L,SNP,SNVindel,exonic,TOP3B,NA,nonsynonymous SNV,"TOP3B:NM_001282112:exon6:c.C509T:p.P170L,TOP3B:NM_001282113:exon6:c.C509T:p.P170L,TOP3B:NM_003935:exon6:c.C509T:p.P170L,TOP3B:NM_001349845:exon7:c.C509T:p.P170L,TOP3B:NM_001349847:exon7:c.C509T:p.P170L,TOP3B:NM_001349848:exon7:c.C101T:p.P34L,TOP3B:NM_001349851:exon7:c.C101T:p.P34L,TOP3B:NM_001349850:exon8:c.C101T:p.P34L,TOP3B:NM_001349852:exon8:c.C101T:p.P34L",D,D,D,T,D,T
chr22,22842674,22842674,C,T,R010_S,ZNF280B,Silent,NM_080764,exon4,c.G1050A,p.R350R,SNP,SNVindel,exonic,ZNF280B,NA,synonymous SNV,ZNF280B:NM_080764:exon4:c.G1050A:p.R350R,NA,NA,NA,NA,NA,NA
chr22,23404033,23404033,C,T,R010_S,RSPH14,Silent,NM_014433,exon6,c.G744A,p.K248K,SNP,SNVindel,exonic,RSPH14,NA,synonymous SNV,RSPH14:NM_014433:exon6:c.G744A:p.K248K,NA,NA,NA,NA,NA,NA
chr22,24086767,24086767,C,T,R010_S,ZNF70,Silent,NM_021916,exon2,c.G561A,p.Q187Q,SNP,SNVindel,exonic,ZNF70,NA,synonymous SNV,ZNF70:NM_021916:exon2:c.G561A:p.Q187Q,NA,NA,NA,NA,NA,NA
chr22,24167538,24167538,G,A,R010_S,SMARCB1,Missense_Mutation,NM_001007468,exon7,c.G895A,p.V299I,SNP,SNVindel,exonic,SMARCB1,NA,nonsynonymous SNV,"SMARCB1:NM_001007468:exon7:c.G895A:p.V299I,SMARCB1:NM_001317946:exon7:c.G949A:p.V317I,SMARCB1:NM_001362877:exon7:c.G976A:p.V326I,SMARCB1:NM_003073:exon7:c.G922A:p.V308I",T,D,D,T,N,T
chr22,24829586,24829586,G,A,R010_S,ADORA2A,Missense_Mutation,NM_000675,exon2,c.G214A,p.A72T,SNP,SNVindel,exonic,ADORA2A,NA,nonsynonymous SNV,"ADORA2A:NM_000675:exon2:c.G214A:p.A72T,ADORA2A:NM_001278498:exon2:c.G214A:p.A72T,ADORA2A:NM_001278499:exon2:c.G214A:p.A72T,ADORA2A:NM_001278500:exon2:c.G214A:p.A72T,ADORA2A:NM_001278497:exon3:c.G214A:p.A72T",T,D,D,T,N,T
chr22,25294171,25294171,G,A,R010_S,SGSM1,Missense_Mutation,NM_001098498,exon18,c.G2072A,p.R691K,SNP,SNVindel,exonic,SGSM1,NA,nonsynonymous SNV,"SGSM1:NM_001098498:exon18:c.G2072A:p.R691K,SGSM1:NM_001098497:exon19:c.G2255A:p.R752K,SGSM1:NM_133454:exon19:c.G2237A:p.R746K,SGSM1:NM_001039948:exon20:c.G2420A:p.R807K",T,U,N,T,N,T
chr22,25586725,25586725,G,A,R010_S,KIAA1671,Missense_Mutation,NM_001145206,exon10,c.G5399A,p.S1800N,SNP,SNVindel,exonic,KIAA1671,NA,nonsynonymous SNV,KIAA1671:NM_001145206:exon10:c.G5399A:p.S1800N,D,D,D,.,N,T
chr22,27018591,27018591,C,T,R010_S,CRYBA4,Missense_Mutation,NM_001886,exon2,c.C31T,p.P11S,SNP,SNVindel,exonic,CRYBA4,NA,nonsynonymous SNV,CRYBA4:NM_001886:exon2:c.C31T:p.P11S,T,N,N,T,N,T
chr22,28194436,28194436,C,T,R010_S,MN1,Missense_Mutation,NM_002430,exon1,c.G2096A,p.G699D,SNP,SNVindel,exonic,MN1,NA,nonsynonymous SNV,MN1:NM_002430:exon1:c.G2096A:p.G699D,D,D,D,T,D,T
chr22,28195108,28195108,C,T,R010_S,MN1,Missense_Mutation,NM_002430,exon1,c.G1424A,p.G475D,SNP,SNVindel,exonic,MN1,NA,nonsynonymous SNV,MN1:NM_002430:exon1:c.G1424A:p.G475D,T,N,N,T,D,T
chr22,29179630,29179630,C,T,R010_S,CCDC117,Missense_Mutation,NM_001284263,exon3,c.C545T,p.S182F,SNP,SNVindel,exonic,CCDC117,NA,nonsynonymous SNV,"CCDC117:NM_001284263:exon3:c.C545T:p.S182F,CCDC117:NM_001284264:exon3:c.C374T:p.S125F,CCDC117:NM_001284265:exon4:c.C203T:p.S68F,CCDC117:NM_173510:exon4:c.C599T:p.S200F",D,D,D,T,D,T
chr22,29191569,29191569,G,A,R010_S,XBP1,Missense_Mutation,NM_005080,exon5,c.C751T,p.R251C,SNP,SNVindel,exonic,XBP1,NA,nonsynonymous SNV,"XBP1:NM_005080:exon5:c.C751T:p.R251C,XBP1:NM_001079539:exon6:c.C725T:p.T242M",D,N,D,.,N,T
chr22,29668231,29668231,G,A,R010_S,EWSR1,Missense_Mutation,NM_001163285,exon2,c.G40A,p.A14T,SNP,SNVindel,exonic,EWSR1,NA,nonsynonymous SNV,"EWSR1:NM_001163285:exon2:c.G40A:p.A14T,EWSR1:NM_001163286:exon2:c.G40A:p.A14T,EWSR1:NM_001163287:exon2:c.G40A:p.A14T,EWSR1:NM_005243:exon2:c.G40A:p.A14T,EWSR1:NM_013986:exon2:c.G40A:p.A14T",D,U,D,T,D,D
chr22,29704679,29704679,C,T,R010_S,GAS2L1,Missense_Mutation,NM_001278730,exon2,c.C584T,p.A195V,SNP,SNVindel,exonic,GAS2L1,NA,nonsynonymous SNV,GAS2L1:NM_001278730:exon2:c.C584T:p.A195V,T,U,N,T,N,T
chr22,29708146,29708146,C,T,R010_S,GAS2L1,Missense_Mutation,NM_001278730,exon6,c.C1025T,p.S342F,SNP,SNVindel,exonic,GAS2L1,NA,nonsynonymous SNV,GAS2L1:NM_001278730:exon6:c.C1025T:p.S342F,D,U,D,T,N,T
chr22,29747255,29747255,C,T,R010_S,AP1B1,Missense_Mutation,NM_001127,exon9,c.G1060A,p.V354M,SNP,SNVindel,exonic,AP1B1,NA,nonsynonymous SNV,"AP1B1:NM_001127:exon9:c.G1060A:p.V354M,AP1B1:NM_001166019:exon9:c.G1060A:p.V354M,AP1B1:NM_145730:exon9:c.G1060A:p.V354M",D,D,D,T,D,T
chr22,30737761,30737761,C,T,R010_S,SF3A1,Missense_Mutation,NM_005877,exon7,c.G991A,p.E331K,SNP,SNVindel,exonic,SF3A1,NA,nonsynonymous SNV,SF3A1:NM_005877:exon7:c.G991A:p.E331K,T,D,D,T,N,T
chr22,30806649,30806649,G,A,R010_S,SEC14L2,Silent,NM_001204204,exon6,c.G396A,p.K132K,SNP,SNVindel,exonic,SEC14L2,NA,synonymous SNV,"SEC14L2:NM_001204204:exon6:c.G396A:p.K132K,SEC14L2:NM_001291932:exon7:c.G483A:p.K161K,SEC14L2:NM_012429:exon8:c.G645A:p.K215K,SEC14L2:NM_033382:exon8:c.G645A:p.K215K",NA,NA,NA,NA,NA,NA
chr22,30975766,30975766,C,T,R010_S,PES1,Silent,NM_001243225,exon12,c.G1311A,p.L437L,SNP,SNVindel,exonic,PES1,NA,synonymous SNV,"PES1:NM_001243225:exon12:c.G1311A:p.L437L,PES1:NM_014303:exon12:c.G1326A:p.L442L,PES1:NM_001282327:exon14:c.G909A:p.L303L,PES1:NM_001282328:exon14:c.G909A:p.L303L",NA,NA,NA,NA,NA,NA
chr22,31285196,31285196,C,T,R010_S,OSBP2,Missense_Mutation,NM_001282742,exon4,c.C83T,p.S28F,SNP,SNVindel,exonic,OSBP2,NA,nonsynonymous SNV,"OSBP2:NM_001282742:exon4:c.C83T:p.S28F,OSBP2:NM_001282740:exon5:c.C350T:p.S117F,OSBP2:NM_001282741:exon5:c.C677T:p.S226F,OSBP2:NM_001282739:exon6:c.C1448T:p.S483F,OSBP2:NM_030758:exon6:c.C1451T:p.S484F,OSBP2:NM_001282738:exon7:c.C953T:p.S318F",D,U,N,T,D,T
chr22,31302205,31302205,C,T,R010_S,OSBP2,Missense_Mutation,NM_001282742,exon12,c.C1262T,p.T421M,SNP,SNVindel,exonic,OSBP2,NA,nonsynonymous SNV,"OSBP2:NM_001282742:exon12:c.C1262T:p.T421M,OSBP2:NM_001282740:exon13:c.C1529T:p.T510M,OSBP2:NM_001282741:exon13:c.C1859T:p.T620M,OSBP2:NM_001282739:exon14:c.C2627T:p.T876M,OSBP2:NM_030758:exon14:c.C2630T:p.T877M,OSBP2:NM_001282738:exon15:c.C2132T:p.T711M",D,N,N,T,N,T
chr22,31328388,31328388,C,T,R010_S,MORC2,Silent,NM_001303256,exon24,c.G2799A,p.Q933Q,SNP,SNVindel,exonic,MORC2,NA,synonymous SNV,"MORC2:NM_001303256:exon24:c.G2799A:p.Q933Q,MORC2:NM_001303257:exon24:c.G2799A:p.Q933Q,MORC2:NM_014941:exon25:c.G2613A:p.Q871Q",NA,NA,NA,NA,NA,NA
chr22,31485848,31485848,C,T,R010_S,SMTN,Missense_Mutation,NM_001207018,exon6,c.C803T,p.A268V,SNP,SNVindel,exonic,SMTN,NA,nonsynonymous SNV,"SMTN:NM_001207018:exon6:c.C803T:p.A268V,SMTN:NM_001207017:exon7:c.C797T:p.A266V,SMTN:NM_006932:exon7:c.C635T:p.A212V,SMTN:NM_134269:exon7:c.C635T:p.A212V,SMTN:NM_134270:exon7:c.C635T:p.A212V",D,N,N,T,N,T
chr22,31485961,31485961,G,A,R010_S,SMTN,Missense_Mutation,NM_001207018,exon6,c.G916A,p.E306K,SNP,SNVindel,exonic,SMTN,NA,nonsynonymous SNV,"SMTN:NM_001207018:exon6:c.G916A:p.E306K,SMTN:NM_001207017:exon7:c.G910A:p.E304K,SMTN:NM_006932:exon7:c.G748A:p.E250K,SMTN:NM_134269:exon7:c.G748A:p.E250K,SMTN:NM_134270:exon7:c.G748A:p.E250K",D,N,N,T,N,T
chr22,31495083,31495083,C,T,R010_S,SMTN,Missense_Mutation,NM_001207018,exon17,c.C2537T,p.S846F,SNP,SNVindel,exonic,SMTN,NA,nonsynonymous SNV,"SMTN:NM_001207018:exon17:c.C2537T:p.S846F,SMTN:NM_006932:exon18:c.C2369T:p.S790F,SMTN:NM_134269:exon18:c.C2369T:p.S790F,SMTN:NM_134270:exon18:c.C2369T:p.S790F,SMTN:NM_001207017:exon19:c.C2624T:p.S875F",D,N,D,T,D,T
chr22,31524288,31524288,G,A,R010_S,INPP5J,Missense_Mutation,NM_001284287,exon7,c.G683A,p.G228D,SNP,SNVindel,exonic,INPP5J,NA,nonsynonymous SNV,"INPP5J:NM_001284287:exon7:c.G683A:p.G228D,INPP5J:NM_001002837:exon8:c.G884A:p.G295D,INPP5J:NM_001284285:exon8:c.G1988A:p.G663D,INPP5J:NM_001284286:exon9:c.G1787A:p.G596D,INPP5J:NM_001284288:exon9:c.G887A:p.G296D,INPP5J:NM_001284289:exon10:c.G887A:p.G296D",D,D,D,D,D,D
chr22,31532754,31532754,G,A,R010_S,PLA2G3,Missense_Mutation,NM_015715,exon6,c.C1231T,p.P411S,SNP,SNVindel,exonic,PLA2G3,NA,nonsynonymous SNV,PLA2G3:NM_015715:exon6:c.C1231T:p.P411S,T,N,N,T,N,T
chr22,31835910,31835910,G,A,R010_S,EIF4ENIF1,Missense_Mutation,NM_001164502,exon17,c.C2392T,p.P798S,SNP,SNVindel,exonic,EIF4ENIF1,NA,nonsynonymous SNV,"EIF4ENIF1:NM_001164502:exon17:c.C2392T:p.P798S,EIF4ENIF1:NM_001164501:exon19:c.C2914T:p.P972S,EIF4ENIF1:NM_019843:exon19:c.C2914T:p.P972S",D,D,D,.,N,T
chr22,31836031,31836031,C,T,R010_S,EIF4ENIF1,Silent,NM_001164502,exon17,c.G2271A,p.R757R,SNP,SNVindel,exonic,EIF4ENIF1,NA,synonymous SNV,"EIF4ENIF1:NM_001164502:exon17:c.G2271A:p.R757R,EIF4ENIF1:NM_001164501:exon19:c.G2793A:p.R931R,EIF4ENIF1:NM_019843:exon19:c.G2793A:p.R931R",NA,NA,NA,NA,NA,NA
chr22,31864234,31864234,C,T,R010_S,EIF4ENIF1,Silent,NM_001164501,exon4,c.G225A,p.G75G,SNP,SNVindel,exonic,EIF4ENIF1,NA,synonymous SNV,"EIF4ENIF1:NM_001164501:exon4:c.G225A:p.G75G,EIF4ENIF1:NM_001164502:exon4:c.G225A:p.G75G,EIF4ENIF1:NM_019843:exon4:c.G225A:p.G75G",NA,NA,NA,NA,NA,NA
chr22,32188052,32188052,C,T,R010_S,DEPDC5,Silent,NM_001369901,exon10,c.C574T,p.L192L,SNP,SNVindel,exonic,DEPDC5,NA,synonymous SNV,"DEPDC5:NM_001369901:exon10:c.C574T:p.L192L,DEPDC5:NM_001369902:exon10:c.C574T:p.L192L,DEPDC5:NM_001007188:exon11:c.C658T:p.L220L,DEPDC5:NM_001136029:exon11:c.C658T:p.L220L,DEPDC5:NM_001242896:exon11:c.C658T:p.L220L,DEPDC5:NM_001242897:exon11:c.C658T:p.L220L,DEPDC5:NM_001363852:exon11:c.C658T:p.L220L,DEPDC5:NM_001363854:exon11:c.C658T:p.L220L,DEPDC5:NM_001364318:exon11:c.C658T:p.L220L,DEPDC5:NM_001364319:exon11:c.C658T:p.L220L,DEPDC5:NM_001364320:exon11:c.C658T:p.L220L,DEPDC5:NM_001369903:exon11:c.C658T:p.L220L,DEPDC5:NM_014662:exon11:c.C658T:p.L220L",NA,NA,NA,NA,NA,NA
chr22,32794082,32794082,C,T,R010_S,RTCB,Silent,NM_014306,exon7,c.G660A,p.G220G,SNP,SNVindel,exonic,RTCB,NA,synonymous SNV,RTCB:NM_014306:exon7:c.G660A:p.G220G,NA,NA,NA,NA,NA,NA
chr22,35820221,35820221,G,A,R010_S,MCM5,Silent,NM_006739,exon17,c.G2178A,p.Q726Q,SNP,SNVindel,exonic,MCM5,NA,synonymous SNV,MCM5:NM_006739:exon17:c.G2178A:p.Q726Q,NA,NA,NA,NA,NA,NA
chr22,36715659,36715659,C,T,R010_S,MYH9,Missense_Mutation,NM_002473,exon10,c.G1034A,p.G345E,SNP,SNVindel,exonic,MYH9,NA,nonsynonymous SNV,MYH9:NM_002473:exon10:c.G1034A:p.G345E,D,N,D,T,N,T
chr22,36907686,36907686,C,T,R010_S,EIF3D,Missense_Mutation,NM_003753,exon14,c.G1497A,p.M499I,SNP,SNVindel,exonic,EIF3D,NA,nonsynonymous SNV,EIF3D:NM_003753:exon14:c.G1497A:p.M499I,D,D,D,.,D,T
chr22,37326551,37326551,G,A,R010_S,CSF2RB,Missense_Mutation,NM_000395,exon7,c.G853A,p.G285R,SNP,SNVindel,exonic,CSF2RB,NA,nonsynonymous SNV,CSF2RB:NM_000395:exon7:c.G853A:p.G285R,T,N,N,D,N,T
chr22,37471254,37471254,G,A,R010_S,TMPRSS6,Silent,NM_001289000,exon11,c.C1263T,p.I421I,SNP,SNVindel,exonic,TMPRSS6,NA,synonymous SNV,"TMPRSS6:NM_001289000:exon11:c.C1263T:p.I421I,TMPRSS6:NM_001289001:exon11:c.C1263T:p.I421I,TMPRSS6:NM_153609:exon11:c.C1290T:p.I430I",NA,NA,NA,NA,NA,NA
chr22,38054897,38054897,C,T,R010_S,PDXP,Silent,NM_020315,exon1,c.C108T,p.A36A,SNP,SNVindel,exonic,PDXP,NA,synonymous SNV,PDXP:NM_020315:exon1:c.C108T:p.A36A,NA,NA,NA,NA,NA,NA
chr22,38240140,38240140,G,A,R010_S,ANKRD54,Missense_Mutation,NM_138797,exon1,c.C106T,p.L36F,SNP,SNVindel,exonic,ANKRD54,NA,nonsynonymous SNV,ANKRD54:NM_138797:exon1:c.C106T:p.L36F,T,N,N,T,N,T
chr22,38323528,38323528,G,A,R010_S,MICALL1,Missense_Mutation,NM_033386,exon9,c.G1576A,p.E526K,SNP,SNVindel,exonic,MICALL1,NA,nonsynonymous SNV,MICALL1:NM_033386:exon9:c.G1576A:p.E526K,D,N,N,T,N,T
chr22,38370019,38370019,G,A,R010_S,SOX10,Missense_Mutation,NM_006941,exon4,c.C884T,p.A295V,SNP,SNVindel,exonic,SOX10,NA,nonsynonymous SNV,SOX10:NM_006941:exon4:c.C884T:p.A295V,D,N,D,T,N,T
chr22,38621511,38621511,G,A,R010_S,TMEM184B,Missense_Mutation,NM_001195071,exon7,c.C707T,p.T236I,SNP,SNVindel,exonic,TMEM184B,NA,nonsynonymous SNV,"TMEM184B:NM_001195071:exon7:c.C707T:p.T236I,TMEM184B:NM_012264:exon7:c.C707T:p.T236I,TMEM184B:NM_001195072:exon8:c.C509T:p.T170I",D,D,D,T,D,T
chr22,38882424,38882424,G,A,R010_S,DDX17,Missense_Mutation,NM_001098504,exon13,c.C1712T,p.T571I,SNP,SNVindel,exonic,DDX17,NA,nonsynonymous SNV,"DDX17:NM_001098504:exon13:c.C1712T:p.T571I,DDX17:NM_006386:exon13:c.C1706T:p.T569I",T,N,D,T,N,T
chr22,39024267,39024267,G,A,R010_S,FAM227A,Silent,NM_001013647,exon8,c.C702T,p.S234S,SNP,SNVindel,exonic,FAM227A,NA,synonymous SNV,"FAM227A:NM_001013647:exon8:c.C702T:p.S234S,FAM227A:NM_001291030:exon8:c.C423T:p.S141S",NA,NA,NA,NA,NA,NA
chr22,39135780,39135780,C,T,R010_S,SUN2,Missense_Mutation,NM_001199579,exon13,c.G1588A,p.A530T,SNP,SNVindel,exonic,SUN2,NA,nonsynonymous SNV,"SUN2:NM_001199579:exon13:c.G1588A:p.A530T,SUN2:NM_015374:exon13:c.G1525A:p.A509T,SUN2:NM_001199580:exon14:c.G1525A:p.A509T",T,N,N,T,N,T
chr22,39138442,39138442,C,T,R010_S,SUN2,Missense_Mutation,NM_001199579,exon9,c.G995A,p.R332Q,SNP,SNVindel,exonic,SUN2,NA,nonsynonymous SNV,"SUN2:NM_001199579:exon9:c.G995A:p.R332Q,SUN2:NM_015374:exon9:c.G932A:p.R311Q,SUN2:NM_001199580:exon10:c.G932A:p.R311Q",T,N,N,T,N,T
chr22,39483117,39483117,C,T,R010_S,APOBEC3G,Missense_Mutation,NM_001349437,exon6,c.C925T,p.R309W,SNP,SNVindel,exonic,APOBEC3G,NA,nonsynonymous SNV,"APOBEC3G:NM_001349437:exon6:c.C925T:p.R309W,APOBEC3G:NM_001349436:exon7:c.C1093T:p.R365W,APOBEC3G:NM_021822:exon7:c.C1126T:p.R376W",T,.,N,T,N,T
chr22,40356086,40356086,C,T,R010_S,GRAP2,Missense_Mutation,NM_001291828,exon2,c.C28T,p.P10S,SNP,SNVindel,exonic,GRAP2,NA,nonsynonymous SNV,GRAP2:NM_001291828:exon2:c.C28T:p.P10S,NA,NA,NA,NA,NA,NA
chr22,40361994,40361994,G,A,R010_S,GRAP2,Silent,NM_001291825,exon4,c.G291A,p.R97R,SNP,SNVindel,exonic,GRAP2,NA,synonymous SNV,"GRAP2:NM_001291825:exon4:c.G291A:p.R97R,GRAP2:NM_001291826:exon4:c.G75A:p.R25R,GRAP2:NM_001291824:exon5:c.G291A:p.R97R,GRAP2:NM_004810:exon5:c.G291A:p.R97R",NA,NA,NA,NA,NA,NA
chr22,40807602,40807602,G,A,R010_S,MRTFA,Missense_Mutation,NM_001282660,exon12,c.C2588T,p.T863I,SNP,SNVindel,exonic,MRTFA,NA,nonsynonymous SNV,"MRTFA:NM_001282660:exon12:c.C2588T:p.T863I,MRTFA:NM_001318139:exon13:c.C2693T:p.T898I,MRTFA:NM_001282661:exon14:c.C2738T:p.T913I,MRTFA:NM_020831:exon15:c.C2888T:p.T963I",D,D,D,T,D,T
chr22,40815315,40815315,C,T,R010_S,MRTFA,Missense_Mutation,NM_001282660,exon9,c.G1127A,p.R376H,SNP,SNVindel,exonic,MRTFA,NA,nonsynonymous SNV,"MRTFA:NM_001282660:exon9:c.G1127A:p.R376H,MRTFA:NM_001318139:exon10:c.G1232A:p.R411H,MRTFA:NM_001282661:exon11:c.G1277A:p.R426H,MRTFA:NM_001282662:exon12:c.G1427A:p.R476H,MRTFA:NM_020831:exon12:c.G1427A:p.R476H",D,D,D,D,D,D
chr22,41278057,41278057,G,A,R010_S,XPNPEP3,Silent,NM_022098,exon3,c.G465A,p.R155R,SNP,SNVindel,exonic,XPNPEP3,NA,synonymous SNV,XPNPEP3:NM_022098:exon3:c.G465A:p.R155R,NA,NA,NA,NA,NA,NA
chr22,41513413,41513413,G,A,R010_S,EP300,Missense_Mutation,NM_001362843,exon2,c.G317A,p.S106N,SNP,SNVindel,exonic,EP300,NA,nonsynonymous SNV,"EP300:NM_001362843:exon2:c.G317A:p.S106N,EP300:NM_001429:exon2:c.G317A:p.S106N",D,N,N,D,N,T
chr22,41726090,41726090,G,A,R010_S,ZC3H7B,Missense_Mutation,NM_017590,exon6,c.G508A,p.A170T,SNP,SNVindel,exonic,ZC3H7B,NA,nonsynonymous SNV,ZC3H7B:NM_017590:exon6:c.G508A:p.A170T,D,D,D,T,D,T
chr22,41922443,41922443,G,A,R010_S,ACO2,Missense_Mutation,NM_001098,exon15,c.G1939A,p.A647T,SNP,SNVindel,exonic,ACO2,NA,nonsynonymous SNV,ACO2:NM_001098:exon15:c.G1939A:p.A647T,D,D,D,T,D,D
chr22,41940047,41940047,C,T,R010_S,POLR3H,Missense_Mutation,NM_001018050,exon1,c.G59A,p.R20K,SNP,SNVindel,exonic,POLR3H,NA,nonsynonymous SNV,"POLR3H:NM_001018050:exon1:c.G59A:p.R20K,POLR3H:NM_001018052:exon1:c.G59A:p.R20K,POLR3H:NM_001282884:exon2:c.G59A:p.R20K,POLR3H:NM_001282885:exon2:c.G59A:p.R20K,POLR3H:NM_138338:exon2:c.G59A:p.R20K",T,D,D,.,N,T
chr22,42032246,42032246,G,A,R010_S,XRCC6,Missense_Mutation,NM_001288978,exon3,c.G175A,p.D59N,SNP,SNVindel,exonic,XRCC6,NA,nonsynonymous SNV,"XRCC6:NM_001288978:exon3:c.G175A:p.D59N,XRCC6:NM_001288976:exon4:c.G325A:p.D109N,XRCC6:NM_001288977:exon4:c.G202A:p.D68N,XRCC6:NM_001469:exon4:c.G325A:p.D109N",D,D,D,.,D,T
chr22,42289239,42289239,C,T,R010_S,SREBF2,Missense_Mutation,NM_004599,exon12,c.C2327T,p.S776F,SNP,SNVindel,exonic,SREBF2,NA,nonsynonymous SNV,SREBF2:NM_004599:exon12:c.C2327T:p.S776F,D,D,D,T,D,T
chr22,42607365,42607365,G,A,R010_S,TCF20,Missense_Mutation,NM_181492,exon1,c.C3947T,p.S1316F,SNP,SNVindel,exonic,TCF20,NA,nonsynonymous SNV,"TCF20:NM_181492:exon1:c.C3947T:p.S1316F,TCF20:NM_005650:exon2:c.C3947T:p.S1316F",D,N,D,T,N,T
chr22,42610343,42610343,G,A,R010_S,TCF20,Silent,NM_181492,exon1,c.C969T,p.H323H,SNP,SNVindel,exonic,TCF20,NA,synonymous SNV,"TCF20:NM_181492:exon1:c.C969T:p.H323H,TCF20:NM_005650:exon2:c.C969T:p.H323H",NA,NA,NA,NA,NA,NA
chr22,44068168,44068168,G,A,R010_S,EFCAB6,Silent,NM_198856,exon12,c.C981T,p.P327P,SNP,SNVindel,exonic,EFCAB6,NA,synonymous SNV,"EFCAB6:NM_198856:exon12:c.C981T:p.P327P,EFCAB6:NM_022785:exon14:c.C1437T:p.P479P",NA,NA,NA,NA,NA,NA
chr22,45719147,45719147,C,T,R010_S,FAM118A,Missense_Mutation,NM_001349913,exon3,c.C139T,p.P47S,SNP,SNVindel,exonic,FAM118A,NA,nonsynonymous SNV,"FAM118A:NM_001349913:exon3:c.C139T:p.P47S,FAM118A:NM_001349914:exon3:c.C142T:p.P48S,FAM118A:NM_001349915:exon3:c.C139T:p.P47S,FAM118A:NM_017911:exon3:c.C139T:p.P47S,FAM118A:NM_001104595:exon4:c.C139T:p.P47S,FAM118A:NM_001349916:exon5:c.C181T:p.P61S",D,N,D,T,D,T
chr22,45959024,45959024,C,T,R010_S,FBLN1,Missense_Mutation,NM_001996,exon15,c.C1930T,p.L644F,SNP,SNVindel,exonic,FBLN1,NA,nonsynonymous SNV,FBLN1:NM_001996:exon15:c.C1930T:p.L644F,T,.,D,D,D,D
chr22,46345953,46345953,G,A,R010_S,WNT7B,Missense_Mutation,NM_058238,exon2,c.C145T,p.R49C,SNP,SNVindel,exonic,WNT7B,NA,nonsynonymous SNV,WNT7B:NM_058238:exon2:c.C145T:p.R49C,D,U,D,T,D,D
chr22,46643104,46643104,C,T,R010_S,CDPF1,Missense_Mutation,NM_207327,exon3,c.G128A,p.S43N,SNP,SNVindel,exonic,CDPF1,NA,nonsynonymous SNV,CDPF1:NM_207327:exon3:c.G128A:p.S43N,D,D,D,T,N,T
chr22,46709881,46709881,G,A,R010_S,GTSE1,Missense_Mutation,NM_016426,exon6,c.G1022A,p.S341N,SNP,SNVindel,exonic,GTSE1,NA,nonsynonymous SNV,GTSE1:NM_016426:exon6:c.G1022A:p.S341N,T,N,P,T,N,T
chr22,50181171,50181171,C,T,R010_S,BRD1,Silent,NM_001349941,exon7,c.G2709A,p.Q903Q,SNP,SNVindel,exonic,BRD1,NA,synonymous SNV,"BRD1:NM_001349941:exon7:c.G2709A:p.Q903Q,BRD1:NM_001304808:exon8:c.G2724A:p.Q908Q,BRD1:NM_001349942:exon8:c.G1182A:p.Q394Q",NA,NA,NA,NA,NA,NA
chr22,50552098,50552098,G,A,R010_S,MOV10L1,Silent,NM_001164104,exon6,c.G765A,p.E255E,SNP,SNVindel,exonic,MOV10L1,NA,synonymous SNV,"MOV10L1:NM_001164104:exon6:c.G765A:p.E255E,MOV10L1:NM_001164105:exon6:c.G705A:p.E235E,MOV10L1:NM_018995:exon6:c.G765A:p.E255E",NA,NA,NA,NA,NA,NA
chr22,50655674,50655674,G,A,R010_S,SELENOO,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SELENOO,NA,unknown,UNKNOWN,T,N,N,T,N,T
chr22,50693952,50693952,G,A,R010_S,MAPK12,Silent,NM_001303252,exon9,c.C750T,p.N250N,SNP,SNVindel,exonic,MAPK12,NA,synonymous SNV,"MAPK12:NM_001303252:exon9:c.C750T:p.N250N,MAPK12:NM_002969:exon10:c.C780T:p.N260N",NA,NA,NA,NA,NA,NA
chr22,50694246,50694246,G,A,R010_S,MAPK12,Silent,NM_001303252,exon7,c.C654T,p.G218G,SNP,SNVindel,exonic,MAPK12,NA,synonymous SNV,"MAPK12:NM_001303252:exon7:c.C654T:p.G218G,MAPK12:NM_002969:exon8:c.C684T:p.G228G",NA,NA,NA,NA,NA,NA
chr22,50703848,50703848,G,A,R010_S,MAPK11,Missense_Mutation,NM_002751,exon11,c.C917T,p.A306V,SNP,SNVindel,exonic,MAPK11,NA,nonsynonymous SNV,MAPK11:NM_002751:exon11:c.C917T:p.A306V,D,U,D,T,N,T
chr22,50706284,50706284,C,T,R010_S,MAPK11,Missense_Mutation,NM_002751,exon2,c.G211A,p.E71K,SNP,SNVindel,exonic,MAPK11,NA,nonsynonymous SNV,MAPK11:NM_002751:exon2:c.G211A:p.E71K,D,U,D,T,D,D
chr22,50860766,50860766,C,T,R010_S,PPP6R2,Missense_Mutation,NM_001242898,exon9,c.C929T,p.P310L,SNP,SNVindel,exonic,PPP6R2,NA,nonsynonymous SNV,"PPP6R2:NM_001242898:exon9:c.C929T:p.P310L,PPP6R2:NM_001242899:exon9:c.C932T:p.P311L,PPP6R2:NM_001242900:exon9:c.C929T:p.P310L,PPP6R2:NM_001351641:exon9:c.C932T:p.P311L,PPP6R2:NM_001351642:exon9:c.C929T:p.P310L,PPP6R2:NM_001351644:exon9:c.C929T:p.P310L,PPP6R2:NM_001351646:exon9:c.C929T:p.P310L,PPP6R2:NM_001351647:exon9:c.C443T:p.P148L,PPP6R2:NM_001351648:exon9:c.C443T:p.P148L,PPP6R2:NM_014678:exon9:c.C929T:p.P310L,PPP6R2:NM_001351643:exon10:c.C929T:p.P310L,PPP6R2:NM_001351645:exon10:c.C929T:p.P310L,PPP6R2:NM_001365836:exon11:c.C929T:p.P310L",D,N,D,T,D,T
chr22,50895015,50895015,G,A,R010_S,SBF1,Missense_Mutation,NM_001365819,exon29,c.C3917T,p.A1306V,SNP,SNVindel,exonic,SBF1,NA,nonsynonymous SNV,"SBF1:NM_001365819:exon29:c.C3917T:p.A1306V,SBF1:NM_002972:exon30:c.C3992T:p.A1331V",T,N,N,D,N,T
chr22,51065630,51065630,G,A,R010_S,ARSA,Silent,NM_000487,exon2,c.C429T,p.F143F,SNP,SNVindel,exonic,ARSA,NA,synonymous SNV,"ARSA:NM_000487:exon2:c.C429T:p.F143F,ARSA:NM_001085428:exon2:c.C171T:p.F57F,ARSA:NM_001362782:exon2:c.C171T:p.F57F,ARSA:NM_001085425:exon3:c.C429T:p.F143F,ARSA:NM_001085426:exon3:c.C429T:p.F143F,ARSA:NM_001085427:exon3:c.C429T:p.F143F",NA,NA,NA,NA,NA,NA
chrX,3238405,3238405,G,A,R010_S,MXRA5,Missense_Mutation,NM_015419,exon5,c.C5321T,p.S1774F,SNP,SNVindel,exonic,MXRA5,NA,nonsynonymous SNV,MXRA5:NM_015419:exon5:c.C5321T:p.S1774F,D,U,N,T,N,T
chrX,12739452,12739452,G,A,R010_S,FRMPD4,Silent,NM_001368396,exon17,c.G4770A,p.R1590R,SNP,SNVindel,exonic,FRMPD4,NA,synonymous SNV,"FRMPD4:NM_001368396:exon17:c.G4770A:p.R1590R,FRMPD4:NM_001368397:exon17:c.G4764A:p.R1588R,FRMPD4:NM_001368395:exon19:c.G4875A:p.R1625R",NA,NA,NA,NA,NA,NA
chrX,18234792,18234792,C,T,R010_S,BEND2,Silent,NM_001184767,exon2,c.G87A,p.V29V,SNP,SNVindel,exonic,BEND2,NA,synonymous SNV,"BEND2:NM_001184767:exon2:c.G87A:p.V29V,BEND2:NM_153346:exon2:c.G87A:p.V29V",NA,NA,NA,NA,NA,NA
chrX,21450830,21450830,G,A,R010_S,CNKSR2,Missense_Mutation,NM_001168647,exon3,c.G329A,p.G110D,SNP,SNVindel,exonic,CNKSR2,NA,nonsynonymous SNV,"CNKSR2:NM_001168647:exon3:c.G329A:p.G110D,CNKSR2:NM_001168648:exon3:c.G329A:p.G110D,CNKSR2:NM_001168649:exon3:c.G329A:p.G110D,CNKSR2:NM_001330770:exon3:c.G329A:p.G110D,CNKSR2:NM_001330771:exon3:c.G329A:p.G110D,CNKSR2:NM_001330772:exon3:c.G329A:p.G110D,CNKSR2:NM_001330773:exon3:c.G329A:p.G110D,CNKSR2:NM_014927:exon3:c.G329A:p.G110D",T,D,D,T,D,T
chrX,21545010,21545010,G,A,R010_S,CNKSR2,Missense_Mutation,NM_001168649,exon9,c.G836A,p.S279N,SNP,SNVindel,exonic,CNKSR2,NA,nonsynonymous SNV,"CNKSR2:NM_001168649:exon9:c.G836A:p.S279N,CNKSR2:NM_001330770:exon9:c.G836A:p.S279N,CNKSR2:NM_001330771:exon9:c.G836A:p.S279N,CNKSR2:NM_001330772:exon9:c.G836A:p.S279N,CNKSR2:NM_001168647:exon10:c.G983A:p.S328N,CNKSR2:NM_001168648:exon10:c.G983A:p.S328N,CNKSR2:NM_001330773:exon10:c.G983A:p.S328N,CNKSR2:NM_014927:exon10:c.G983A:p.S328N",D,D,D,T,N,T
chrX,23933880,23933880,G,A,R010_S,CXorf58,Missense_Mutation,NM_001169574,exon4,c.G280A,p.D94N,SNP,SNVindel,exonic,CXorf58,NA,nonsynonymous SNV,"CXorf58:NM_001169574:exon4:c.G280A:p.D94N,CXorf58:NM_152761:exon4:c.G280A:p.D94N",D,D,D,T,D,T
chrX,24082423,24082423,G,A,R010_S,EIF2S3,Missense_Mutation,NM_001415,exon7,c.G743A,p.R248K,SNP,SNVindel,exonic,EIF2S3,NA,nonsynonymous SNV,EIF2S3:NM_001415:exon7:c.G743A:p.R248K,D,D,D,T,D,T
chrX,24329396,24329396,G,A,R010_S,SUPT20HL2,Silent,NM_001136233,exon1,c.C2115T,p.P705P,SNP,SNVindel,exonic,SUPT20HL2,NA,synonymous SNV,SUPT20HL2:NM_001136233:exon1:c.C2115T:p.P705P,NA,NA,NA,NA,NA,NA
chrX,24844544,24844544,G,A,R010_S,POLA1,Missense_Mutation,NM_001330360,exon32,c.G3562A,p.D1188N,SNP,SNVindel,exonic,POLA1,NA,nonsynonymous SNV,"POLA1:NM_001330360:exon32:c.G3562A:p.D1188N,POLA1:NM_016937:exon32:c.G3544A:p.D1182N",D,D,D,T,D,T
chrX,25025298,25025298,G,A,R010_S,ARX,Silent,NM_139058,exon4,c.C1378T,p.L460L,SNP,SNVindel,exonic,ARX,NA,synonymous SNV,ARX:NM_139058:exon4:c.C1378T:p.L460L,NA,NA,NA,NA,NA,NA
chrX,25033687,25033687,G,A,R010_S,ARX,Silent,NM_139058,exon1,c.C168T,p.S56S,SNP,SNVindel,exonic,ARX,NA,synonymous SNV,ARX:NM_139058:exon1:c.C168T:p.S56S,NA,NA,NA,NA,NA,NA
chrX,34961458,34961458,G,A,R010_S,FAM47B,Silent,NM_152631,exon1,c.G510A,p.E170E,SNP,SNVindel,exonic,FAM47B,NA,synonymous SNV,FAM47B:NM_152631:exon1:c.G510A:p.E170E,NA,NA,NA,NA,NA,NA
chrX,34961912,34961912,G,A,R010_S,FAM47B,Missense_Mutation,NM_152631,exon1,c.G964A,p.E322K,SNP,SNVindel,exonic,FAM47B,NA,nonsynonymous SNV,FAM47B:NM_152631:exon1:c.G964A:p.E322K,T,.,N,T,N,T
chrX,37948699,37948699,G,A,R010_S,SYTL5,Silent,NM_001163334,exon6,c.G690A,p.R230R,SNP,SNVindel,exonic,SYTL5,NA,synonymous SNV,"SYTL5:NM_001163334:exon6:c.G690A:p.R230R,SYTL5:NM_138780:exon7:c.G690A:p.R230R,SYTL5:NM_001163335:exon8:c.G690A:p.R230R",NA,NA,NA,NA,NA,NA
chrX,45013302,45013302,G,A,R010_S,DIPK2B,Silent,NM_176819,exon4,c.C814T,p.L272L,SNP,SNVindel,exonic,DIPK2B,NA,synonymous SNV,DIPK2B:NM_176819:exon4:c.C814T:p.L272L,NA,NA,NA,NA,NA,NA
chrX,47485467,47485467,G,A,R010_S,CFP,Missense_Mutation,NM_001145252,exon8,c.C1234T,p.P412S,SNP,SNVindel,exonic,CFP,NA,nonsynonymous SNV,"CFP:NM_001145252:exon8:c.C1234T:p.P412S,CFP:NM_002621:exon9:c.C1234T:p.P412S",T,D,D,T,D,T
chrX,48687957,48687957,C,T,R010_S,ERAS,Missense_Mutation,NM_181532,exon2,c.C424T,p.P142S,SNP,SNVindel,exonic,ERAS,NA,nonsynonymous SNV,ERAS:NM_181532:exon2:c.C424T:p.P142S,T,N,N,T,N,T
chrX,48761909,48761909,G,A,R010_S,SLC35A2,Silent,NM_001032289,exon4,c.C687T,p.G229G,SNP,SNVindel,exonic,SLC35A2,NA,synonymous SNV,"SLC35A2:NM_001032289:exon4:c.C687T:p.G229G,SLC35A2:NM_001282648:exon4:c.C615T:p.G205G",NA,NA,NA,NA,NA,NA
chrX,49963314,49963314,C,T,R010_S,AKAP4,Silent,NM_003886,exon2,c.G117A,p.R39R,SNP,SNVindel,exonic,AKAP4,NA,synonymous SNV,"AKAP4:NM_003886:exon2:c.G117A:p.R39R,AKAP4:NM_139289:exon2:c.G90A:p.R30R",NA,NA,NA,NA,NA,NA
chrX,50054004,50054004,C,T,R010_S,CCNB3,Silent,NM_033031,exon6,c.C2835T,p.F945F,SNP,SNVindel,exonic,CCNB3,NA,synonymous SNV,CCNB3:NM_033031:exon6:c.C2835T:p.F945F,NA,NA,NA,NA,NA,NA
chrX,53279780,53279780,C,T,R010_S,IQSEC2,Missense_Mutation,NM_001111125,exon5,c.G1978A,p.G660R,SNP,SNVindel,exonic,IQSEC2,NA,nonsynonymous SNV,"IQSEC2:NM_001111125:exon5:c.G1978A:p.G660R,IQSEC2:NM_015075:exon5:c.G1363A:p.G455R",T,N,N,T,N,T
chrX,54225030,54225030,G,A,R010_S,WNK3,Silent,NM_001002838,exon23,c.C4959T,p.I1653I,SNP,SNVindel,exonic,WNK3,NA,synonymous SNV,"WNK3:NM_001002838:exon23:c.C4959T:p.I1653I,WNK3:NM_020922:exon24:c.C5130T:p.I1710I",NA,NA,NA,NA,NA,NA
chrX,63488489,63488489,G,A,R010_S,MTMR8,Silent,NM_017677,exon14,c.C2043T,p.D681D,SNP,SNVindel,exonic,MTMR8,NA,synonymous SNV,MTMR8:NM_017677:exon14:c.C2043T:p.D681D,NA,NA,NA,NA,NA,NA
chrX,69283171,69283171,G,A,R010_S,OTUD6A,Missense_Mutation,NM_207320,exon1,c.G797A,p.G266D,SNP,SNVindel,exonic,OTUD6A,NA,nonsynonymous SNV,OTUD6A:NM_207320:exon1:c.G797A:p.G266D,D,D,N,T,D,T
chrX,69623767,69623767,C,T,R010_S,KIF4A,Silent,NM_012310,exon24,c.C2673T,p.S891S,SNP,SNVindel,exonic,KIF4A,NA,synonymous SNV,KIF4A:NM_012310:exon24:c.C2673T:p.S891S,NA,NA,NA,NA,NA,NA
chrX,70026631,70026631,G,A,R010_S,TEX11,Missense_Mutation,NM_031276,exon9,c.C616T,p.L206F,SNP,SNVindel,exonic,TEX11,NA,nonsynonymous SNV,"TEX11:NM_031276:exon9:c.C616T:p.L206F,TEX11:NM_001003811:exon10:c.C661T:p.L221F",D,D,N,T,D,T
chrX,86068139,86068139,C,T,R010_S,DACH2,Silent,NM_001139514,exon8,c.C1357T,p.L453L,SNP,SNVindel,exonic,DACH2,NA,synonymous SNV,"DACH2:NM_001139514:exon8:c.C1357T:p.L453L,DACH2:NM_001139515:exon9:c.C895T:p.L299L,DACH2:NM_053281:exon9:c.C1396T:p.L466L",NA,NA,NA,NA,NA,NA
chrX,92927829,92927829,C,T,R010_S,NAP1L3,Missense_Mutation,NM_004538,exon1,c.G475A,p.E159K,SNP,SNVindel,exonic,NAP1L3,NA,nonsynonymous SNV,NAP1L3:NM_004538:exon1:c.G475A:p.E159K,T,N,N,T,D,T
chrX,96197117,96197117,G,A,R010_S,DIAPH2,Missense_Mutation,NM_006729,exon13,c.G1426A,p.D476N,SNP,SNVindel,exonic,DIAPH2,NA,nonsynonymous SNV,"DIAPH2:NM_006729:exon13:c.G1426A:p.D476N,DIAPH2:NM_007309:exon13:c.G1426A:p.D476N",T,D,D,D,D,D
chrX,100662724,100662724,G,A,R010_S,GLA,Silent,NM_000169,exon1,c.C168T,p.C56C,SNP,SNVindel,exonic,GLA,NA,synonymous SNV,GLA:NM_000169:exon1:c.C168T:p.C56C,NA,NA,NA,NA,NA,NA
chrX,102333517,102333517,G,A,R010_S,NXF3,Silent,NM_022052,exon17,c.C1422T,p.T474T,SNP,SNVindel,exonic,NXF3,NA,synonymous SNV,NXF3:NM_022052:exon17:c.C1422T:p.T474T,NA,NA,NA,NA,NA,NA
chrX,103042840,103042840,C,T,R010_S,PLP1,Silent,NM_000533,exon4,c.C567T,p.F189F,SNP,SNVindel,exonic,PLP1,NA,synonymous SNV,"PLP1:NM_000533:exon4:c.C567T:p.F189F,PLP1:NM_001305004:exon4:c.C402T:p.F134F,PLP1:NM_199478:exon4:c.C462T:p.F154F,PLP1:NM_001128834:exon5:c.C567T:p.F189F",NA,NA,NA,NA,NA,NA
chrX,103499010,103499010,C,T,R010_S,ESX1,Missense_Mutation,NM_153448,exon2,c.G331A,p.E111K,SNP,SNVindel,exonic,ESX1,NA,nonsynonymous SNV,ESX1:NM_153448:exon2:c.G331A:p.E111K,D,.,N,D,N,T
chrX,105450203,105450203,G,A,R010_S,PWWP3B,Missense_Mutation,NM_001171020,exon4,c.G778A,p.D260N,SNP,SNVindel,exonic,PWWP3B,NA,nonsynonymous SNV,"PWWP3B:NM_001171020:exon4:c.G778A:p.D260N,PWWP3B:NM_152423:exon5:c.G778A:p.D260N",T,N,N,T,N,T
chrX,106117142,106117142,G,A,R010_S,TBC1D8B,Missense_Mutation,NM_017752,exon21,c.G3310A,p.A1104T,SNP,SNVindel,exonic,TBC1D8B,NA,nonsynonymous SNV,TBC1D8B:NM_017752:exon21:c.G3310A:p.A1104T,T,N,N,T,N,T
chrX,111000953,111000953,G,A,R010_S,ALG13,Silent,NM_001324293,exon23,c.G2388A,p.R796R,SNP,SNVindel,exonic,ALG13,NA,synonymous SNV,"ALG13:NM_001324293:exon23:c.G2388A:p.R796R,ALG13:NM_001257230:exon25:c.G2562A:p.R854R,ALG13:NM_001257234:exon25:c.G2562A:p.R854R,ALG13:NM_001257237:exon25:c.G2562A:p.R854R,ALG13:NM_001324292:exon25:c.G2874A:p.R958R,ALG13:NM_001099922:exon26:c.G3111A:p.R1037R,ALG13:NM_001257231:exon26:c.G2877A:p.R959R",NA,NA,NA,NA,NA,NA
chrX,117752638,117752638,G,A,R010_S,DOCK11,Missense_Mutation,NM_144658,exon31,c.G3418A,p.V1140I,SNP,SNVindel,exonic,DOCK11,NA,nonsynonymous SNV,DOCK11:NM_144658:exon31:c.G3418A:p.V1140I,T,D,D,D,N,D
chrX,119388238,119388238,G,A,R010_S,ZBTB33,Missense_Mutation,NM_006777,exon2,c.G968A,p.G323E,SNP,SNVindel,exonic,ZBTB33,NA,nonsynonymous SNV,"ZBTB33:NM_006777:exon2:c.G968A:p.G323E,ZBTB33:NM_001184742:exon3:c.G968A:p.G323E",T,N,N,T,N,T
chrX,120181829,120181829,G,A,R010_S,GLUD2,Silent,NM_012084,exon1,c.G291A,p.Q97Q,SNP,SNVindel,exonic,GLUD2,NA,synonymous SNV,GLUD2:NM_012084:exon1:c.G291A:p.Q97Q,NA,NA,NA,NA,NA,NA
chrX,129171411,129171411,G,A,R010_S,BCORL1,Missense_Mutation,NM_021946,exon8,c.G4375A,p.A1459T,SNP,SNVindel,exonic,BCORL1,NA,nonsynonymous SNV,"BCORL1:NM_021946:exon8:c.G4375A:p.A1459T,BCORL1:NM_001184772:exon9:c.G4597A:p.A1533T",T,N,D,T,D,D
chrX,129201153,129201153,G,A,R010_S,ELF4,Missense_Mutation,NM_001127197,exon9,c.C1535T,p.P512L,SNP,SNVindel,exonic,ELF4,NA,nonsynonymous SNV,"ELF4:NM_001127197:exon9:c.C1535T:p.P512L,ELF4:NM_001421:exon9:c.C1535T:p.P512L",T,N,D,T,N,T
chrX,129318478,129318478,C,T,R010_S,RAB33A,Nonsense_Mutation,NM_004794,exon2,c.C478T,p.Q160X,SNP,SNVindel,exonic,RAB33A,NA,stopgain,RAB33A:NM_004794:exon2:c.C478T:p.Q160X,.,D,D,.,.,.
chrX,130411913,130411913,C,T,R010_S,IGSF1,Missense_Mutation,NM_001170962,exon12,c.G2210A,p.G737D,SNP,SNVindel,exonic,IGSF1,NA,nonsynonymous SNV,"IGSF1:NM_001170962:exon12:c.G2210A:p.G737D,IGSF1:NM_001170961:exon13:c.G2252A:p.G751D,IGSF1:NM_001555:exon13:c.G2237A:p.G746D",T,N,D,T,D,T
chrX,133379426,133379426,G,A,R010_S,CCDC160,Missense_Mutation,NM_001101357,exon2,c.G596A,p.S199N,SNP,SNVindel,exonic,CCDC160,NA,nonsynonymous SNV,"CCDC160:NM_001101357:exon2:c.G596A:p.S199N,CCDC160:NM_001353453:exon3:c.G596A:p.S199N",T,N,N,D,N,T
chrX,134988186,134988186,C,T,R010_S,SAGE1,Missense_Mutation,NM_018666,exon6,c.C458T,p.S153F,SNP,SNVindel,exonic,SAGE1,NA,nonsynonymous SNV,SAGE1:NM_018666:exon6:c.C458T:p.S153F,T,U,N,T,N,T
chrX,135767930,135767930,G,A,R010_S,ARHGEF6,Missense_Mutation,NM_001306177,exon11,c.C836T,p.S279F,SNP,SNVindel,exonic,ARHGEF6,NA,nonsynonymous SNV,"ARHGEF6:NM_001306177:exon11:c.C836T:p.S279F,ARHGEF6:NM_004840:exon12:c.C1298T:p.S433F",D,D,D,T,D,T
chrX,148048444,148048444,C,T,R010_S,AFF2,Missense_Mutation,NM_001170628,exon11,c.C1961T,p.T654M,SNP,SNVindel,exonic,AFF2,NA,nonsynonymous SNV,"AFF2:NM_001170628:exon11:c.C1961T:p.T654M,AFF2:NM_001169122:exon13:c.C2933T:p.T978M,AFF2:NM_001169124:exon13:c.C2933T:p.T978M,AFF2:NM_001169125:exon13:c.C2921T:p.T974M,AFF2:NM_001169123:exon14:c.C3008T:p.T1003M,AFF2:NM_002025:exon14:c.C3038T:p.T1013M",D,N,N,T,N,T
chrX,148692995,148692995,C,T,R010_S,TMEM185A,Missense_Mutation,NM_001282302,exon2,c.G190A,p.V64I,SNP,SNVindel,exonic,TMEM185A,NA,nonsynonymous SNV,"TMEM185A:NM_001282302:exon2:c.G190A:p.V64I,TMEM185A:NM_032508:exon2:c.G190A:p.V64I",T,D,D,T,N,T
chrX,150869063,150869063,C,T,R010_S,PRRG3,Missense_Mutation,NM_024082,exon4,c.C254T,p.P85L,SNP,SNVindel,exonic,PRRG3,NA,nonsynonymous SNV,PRRG3:NM_024082:exon4:c.C254T:p.P85L,D,D,D,D,D,D
chrX,150912651,150912651,C,T,R010_S,CNGA2,Missense_Mutation,NM_005140,exon7,c.C1676T,p.A559V,SNP,SNVindel,exonic,CNGA2,NA,nonsynonymous SNV,CNGA2:NM_005140:exon7:c.C1676T:p.A559V,T,D,D,D,D,T
chrX,151453151,151453151,C,T,R010_S,GABRA3,Missense_Mutation,NM_000808,exon4,c.G319A,p.D107N,SNP,SNVindel,exonic,GABRA3,NA,nonsynonymous SNV,GABRA3:NM_000808:exon4:c.G319A:p.D107N,D,D,D,T,D,D
chrX,153071025,153071025,C,T,R010_S,PDZD4,Missense_Mutation,NM_001303514,exon4,c.G259A,p.V87M,SNP,SNVindel,exonic,PDZD4,NA,nonsynonymous SNV,"PDZD4:NM_001303514:exon4:c.G259A:p.V87M,PDZD4:NM_001303512:exon6:c.G604A:p.V202M,PDZD4:NM_001303515:exon6:c.G361A:p.V121M,PDZD4:NM_001303516:exon6:c.G343A:p.V115M,PDZD4:NM_032512:exon6:c.G586A:p.V196M,PDZD4:NM_001303513:exon7:c.G298A:p.V100M",D,D,D,T,N,T
chrX,153141232,153141232,G,A,R010_S,L1CAM,Silent,NM_000425,exon1,c.C60T,p.I20I,SNP,SNVindel,exonic,L1CAM,NA,synonymous SNV,"L1CAM:NM_000425:exon1:c.C60T:p.I20I,L1CAM:NM_001143963:exon1:c.C60T:p.I20I,L1CAM:NM_024003:exon1:c.C60T:p.I20I,L1CAM:NM_001278116:exon2:c.C60T:p.I20I",NA,NA,NA,NA,NA,NA
chrX,153184735,153184735,C,T,R010_S,ARHGAP4,Silent,NM_001666,exon6,c.G684A,p.R228R,SNP,SNVindel,exonic,ARHGAP4,NA,synonymous SNV,"ARHGAP4:NM_001666:exon6:c.G684A:p.R228R,ARHGAP4:NM_001164741:exon7:c.G804A:p.R268R",NA,NA,NA,NA,NA,NA
chrX,153218381,153218381,C,T,R010_S,HCFC1,Missense_Mutation,NM_005334,exon19,c.G4526A,p.G1509D,SNP,SNVindel,exonic,HCFC1,NA,nonsynonymous SNV,HCFC1:NM_005334:exon19:c.G4526A:p.G1509D,T,N,N,T,N,T
chrX,153580317,153580317,G,A,R010_S,FLNA,Missense_Mutation,NM_001456,exon41,c.C6818T,p.A2273V,SNP,SNVindel,exonic,FLNA,NA,nonsynonymous SNV,"FLNA:NM_001456:exon41:c.C6818T:p.A2273V,FLNA:NM_001110556:exon42:c.C6842T:p.A2281V",D,D,D,D,D,D
chrX,153631903,153631903,G,A,R010_S,DNASE1L1,Silent,NM_001009934,exon5,c.C372T,p.A124A,SNP,SNVindel,exonic,DNASE1L1,NA,synonymous SNV,"DNASE1L1:NM_001009934:exon5:c.C372T:p.A124A,DNASE1L1:NM_001303620:exon5:c.C372T:p.A124A,DNASE1L1:NM_006730:exon5:c.C372T:p.A124A,DNASE1L1:NM_001009933:exon6:c.C372T:p.A124A,DNASE1L1:NM_001009932:exon7:c.C372T:p.A124A",NA,NA,NA,NA,NA,NA
chr1,22336341,22336341,G,T,R011_F,CELA3A,Missense_Mutation,NM_005747,exon7,c.G786T,p.W262C,SNP,SNVindel,exonic,CELA3A,NA,nonsynonymous SNV,CELA3A:NM_005747:exon7:c.G786T:p.W262C,D,.,D,T,D,T
chr1,152552269,152552269,G,A,R011_F,LCE3D,Silent,NM_032563,exon2,c.C144T,p.S48S,SNP,SNVindel,exonic,LCE3D,NA,synonymous SNV,LCE3D:NM_032563:exon2:c.C144T:p.S48S,NA,NA,NA,NA,NA,NA
chr1,158639308,158639308,G,A,R011_F,SPTA1,Missense_Mutation,NM_003126,exon14,c.C1723T,p.R575C,SNP,SNVindel,exonic,SPTA1,NA,nonsynonymous SNV,SPTA1:NM_003126:exon14:c.C1723T:p.R575C,D,N,D,T,D,T
chr2,95541366,95541366,G,A,R011_F,TEKT4,Missense_Mutation,NM_001286559,exon5,c.G424A,p.V142M,SNP,SNVindel,exonic,TEKT4,NA,nonsynonymous SNV,"TEKT4:NM_001286559:exon5:c.G424A:p.V142M,TEKT4:NM_144705:exon5:c.G970A:p.V324M",D,D,N,T,N,T
chr2,132120659,132120659,A,G,R011_F,RAB6D,Missense_Mutation,NM_001077637,exon1,c.T635C,p.M212T,SNP,SNVindel,exonic,RAB6D,NA,nonsynonymous SNV,RAB6D:NM_001077637:exon1:c.T635C:p.M212T,NA,NA,NA,NA,NA,NA
chr2,208993087,208993087,C,T,R011_F,CRYGC,Missense_Mutation,NM_020989,exon3,c.G365A,p.R122H,SNP,SNVindel,exonic,CRYGC,NA,nonsynonymous SNV,CRYGC:NM_020989:exon3:c.G365A:p.R122H,T,N,N,T,N,T
chr3,130188121,130188121,G,A,R011_F,COL6A5,Missense_Mutation,NM_001278298,exon38,c.G7273A,p.V2425I,SNP,SNVindel,exonic,COL6A5,NA,nonsynonymous SNV,"COL6A5:NM_001278298:exon38:c.G7273A:p.V2425I,COL6A5:NM_153264:exon38:c.G7273A:p.V2425I",T,N,N,T,N,T
chr3,158408105,158408105,A,G,R011_F,GFM1,Missense_Mutation,NM_024996,exon16,c.A2063G,p.Y688C,SNP,SNVindel,exonic,GFM1,NA,nonsynonymous SNV,"GFM1:NM_024996:exon16:c.A2063G:p.Y688C,GFM1:NM_001308164:exon17:c.A2120G:p.Y707C",T,D,D,T,D,T
chr4,4239589,4239589,C,T,R011_F,TMEM128,Missense_Mutation,NM_001297551,exon4,c.G472A,p.V158I,SNP,SNVindel,exonic,TMEM128,NA,nonsynonymous SNV,"TMEM128:NM_001297551:exon4:c.G472A:p.V158I,TMEM128:NM_001297552:exon4:c.G472A:p.V158I,TMEM128:NM_032927:exon4:c.G400A:p.V134I",T,D,D,.,N,T
chr4,39439551,39439551,C,T,R011_F,KLB,Missense_Mutation,NM_175737,exon3,c.C1541T,p.T514M,SNP,SNVindel,exonic,KLB,NA,nonsynonymous SNV,KLB:NM_175737:exon3:c.C1541T:p.T514M,T,D,D,T,N,T
chr4,155507241,155507241,T,C,R011_F,FGA,Missense_Mutation,NM_000508,exon5,c.A1340G,p.E447G,SNP,SNVindel,exonic,FGA,NA,nonsynonymous SNV,"FGA:NM_000508:exon5:c.A1340G:p.E447G,FGA:NM_021871:exon5:c.A1340G:p.E447G",D,N,N,T,D,T
chr4,156831342,156831342,G,A,R011_F,TDO2,Silent,NM_005651,exon6,c.G597A,p.K199K,SNP,SNVindel,exonic,TDO2,NA,synonymous SNV,TDO2:NM_005651:exon6:c.G597A:p.K199K,NA,NA,NA,NA,NA,NA
chr5,17275511,17275511,C,T,R011_F,BASP1,Silent,NM_001271606,exon2,c.C186T,p.A62A,SNP,SNVindel,exonic,BASP1,NA,synonymous SNV,"BASP1:NM_001271606:exon2:c.C186T:p.A62A,BASP1:NM_006317:exon2:c.C186T:p.A62A",NA,NA,NA,NA,NA,NA
chr5,41058233,41058233,C,T,R011_F,MROH2B,Missense_Mutation,NM_173489,exon7,c.G688A,p.A230T,SNP,SNVindel,exonic,MROH2B,NA,nonsynonymous SNV,MROH2B:NM_173489:exon7:c.G688A:p.A230T,T,N,D,T,N,T
chr5,140741443,140741443,G,A,R011_F,PCDHGB2,Missense_Mutation,NM_018923,exon1,c.G1741A,p.A581T,SNP,SNVindel,exonic,PCDHGB2,NA,nonsynonymous SNV,"PCDHGB2:NM_018923:exon1:c.G1741A:p.A581T,PCDHGB2:NM_032096:exon1:c.G1741A:p.A581T",D,.,D,T,N,T
chr5,141004755,141004755,T,A,R011_F,HDAC3,Missense_Mutation,NM_001355039,exon14,c.A1237T,p.S413C,SNP,SNVindel,exonic,HDAC3,NA,nonsynonymous SNV,HDAC3:NM_001355039:exon14:c.A1237T:p.S413C,NA,NA,NA,NA,NA,NA
chr7,21951362,21951362,C,T,R011_F,CDCA7L,Missense_Mutation,NM_018719,exon3,c.G176A,p.R59H,SNP,SNVindel,exonic,CDCA7L,NA,nonsynonymous SNV,"CDCA7L:NM_018719:exon3:c.G176A:p.R59H,CDCA7L:NM_001127370:exon4:c.G74A:p.R25H",T,N,D,T,N,T
chr7,48285573,48285573,T,C,R011_F,ABCA13,Silent,NM_152701,exon13,c.T1605C,p.C535C,SNP,SNVindel,exonic,ABCA13,NA,synonymous SNV,ABCA13:NM_152701:exon13:c.T1605C:p.C535C,NA,NA,NA,NA,NA,NA
chr7,50597033,50597033,G,T,R011_F,DDC,Missense_Mutation,NM_001242888,exon3,c.C209A,p.A70D,SNP,SNVindel,exonic,DDC,NA,nonsynonymous SNV,"DDC:NM_001242888:exon3:c.C209A:p.A70D,DDC:NM_001242886:exon4:c.C329A:p.A110D,DDC:NM_000790:exon5:c.C443A:p.A148D,DDC:NM_001082971:exon5:c.C443A:p.A148D,DDC:NM_001242887:exon5:c.C443A:p.A148D,DDC:NM_001242890:exon5:c.C443A:p.A148D",D,D,D,T,D,D
chr7,82784730,82784730,C,T,R011_F,PCLO,Silent,NM_014510,exon2,c.G1227A,p.K409K,SNP,SNVindel,exonic,PCLO,NA,synonymous SNV,"PCLO:NM_014510:exon2:c.G1227A:p.K409K,PCLO:NM_033026:exon2:c.G1227A:p.K409K",NA,NA,NA,NA,NA,NA
chr7,94029588,94029588,T,A,R011_F,COL1A2,Silent,NM_000089,exon5,c.T213A,p.P71P,SNP,SNVindel,exonic,COL1A2,NA,synonymous SNV,COL1A2:NM_000089:exon5:c.T213A:p.P71P,NA,NA,NA,NA,NA,NA
chr7,123269260,123269260,T,A,R011_F,ASB15,Silent,NM_080928,exon8,c.T1212A,p.A404A,SNP,SNVindel,exonic,ASB15,NA,synonymous SNV,"ASB15:NM_080928:exon8:c.T1212A:p.A404A,ASB15:NM_001290258:exon10:c.T1212A:p.A404A",NA,NA,NA,NA,NA,NA
chr7,150269790,150269790,G,A,R011_F,GIMAP4,Missense_Mutation,NM_001363532,exon3,c.G674A,p.R225H,SNP,SNVindel,exonic,GIMAP4,NA,nonsynonymous SNV,"GIMAP4:NM_001363532:exon3:c.G674A:p.R225H,GIMAP4:NM_018326:exon3:c.G632A:p.R211H",T,N,N,T,N,T
chr8,48625412,48625412,C,T,R011_F,SPIDR,Silent,NM_001352959,exon6,c.C681T,p.F227F,SNP,SNVindel,exonic,SPIDR,NA,synonymous SNV,"SPIDR:NM_001352959:exon6:c.C681T:p.F227F,SPIDR:NM_001352960:exon8:c.C591T:p.F197F,SPIDR:NM_001352945:exon11:c.C1440T:p.F480F,SPIDR:NM_001352941:exon12:c.C1650T:p.F550F,SPIDR:NM_001352944:exon12:c.C1650T:p.F550F,SPIDR:NM_001352953:exon12:c.C1233T:p.F411F,SPIDR:NM_001352956:exon12:c.C1233T:p.F411F,SPIDR:NM_001352939:exon13:c.C1674T:p.F558F,SPIDR:NM_001352942:exon13:c.C1509T:p.F503F,SPIDR:NM_001352952:exon13:c.C1233T:p.F411F,SPIDR:NM_001352955:exon13:c.C1233T:p.F411F,SPIDR:NM_001352957:exon13:c.C1233T:p.F411F,SPIDR:NM_001282916:exon14:c.C1956T:p.F652F,SPIDR:NM_001352935:exon14:c.C1956T:p.F652F,SPIDR:NM_001352936:exon14:c.C1956T:p.F652F,SPIDR:NM_001352938:exon14:c.C1674T:p.F558F,SPIDR:NM_001352940:exon14:c.C1674T:p.F558F,SPIDR:NM_001352943:exon14:c.C1674T:p.F558F,SPIDR:NM_001352946:exon14:c.C1416T:p.F472F,SPIDR:NM_001352948:exon14:c.C1416T:p.F472F,SPIDR:NM_001352950:exon14:c.C1674T:p.F558F,SPIDR:NM_001352951:exon14:c.C1416T:p.F472F,SPIDR:NM_001080394:exon15:c.C2166T:p.F722F,SPIDR:NM_001282919:exon15:c.C1986T:p.F662F,SPIDR:NM_001352931:exon15:c.C2166T:p.F722F,SPIDR:NM_001352932:exon15:c.C2046T:p.F682F,SPIDR:NM_001352933:exon15:c.C1986T:p.F662F,SPIDR:NM_001352934:exon15:c.C2166T:p.F722F,SPIDR:NM_001352937:exon15:c.C1986T:p.F662F,SPIDR:NM_001352947:exon15:c.C1416T:p.F472F,SPIDR:NM_001352961:exon15:c.C2166T:p.F722F,SPIDR:NM_001352949:exon16:c.C1509T:p.F503F,SPIDR:NM_001352958:exon17:c.C918T:p.F306F",NA,NA,NA,NA,NA,NA
chr8,121292247,121292247,C,T,R011_F,COL14A1,Silent,NM_021110,exon29,c.C3555T,p.S1185S,SNP,SNVindel,exonic,COL14A1,NA,synonymous SNV,COL14A1:NM_021110:exon29:c.C3555T:p.S1185S,NA,NA,NA,NA,NA,NA
chr9,105767032,105767032,G,A,R011_F,CYLC2,Missense_Mutation,NM_001340,exon4,c.G236A,p.R79H,SNP,SNVindel,exonic,CYLC2,NA,nonsynonymous SNV,CYLC2:NM_001340:exon4:c.G236A:p.R79H,T,N,N,T,N,T
chr9,133901757,133901757,C,T,R011_F,LAMC3,Silent,NM_006059,exon2,c.C459T,p.A153A,SNP,SNVindel,exonic,LAMC3,NA,synonymous SNV,LAMC3:NM_006059:exon2:c.C459T:p.A153A,NA,NA,NA,NA,NA,NA
chr10,102239763,102239763,C,T,R011_F,WNT8B,Missense_Mutation,NM_003393,exon3,c.C235T,p.R79C,SNP,SNVindel,exonic,WNT8B,NA,nonsynonymous SNV,WNT8B:NM_003393:exon3:c.C235T:p.R79C,D,N,D,T,D,T
chr11,1093364,1093364,C,G,R011_F,MUC2,Missense_Mutation,NM_002457,exon31,c.C5183G,p.T1728S,SNP,SNVindel,exonic,MUC2,NA,nonsynonymous SNV,MUC2:NM_002457:exon31:c.C5183G:p.T1728S,NA,NA,NA,NA,NA,NA
chr11,101833876,101833876,T,C,R011_F,CEP126,Missense_Mutation,NM_020802,exon6,c.T2110C,p.S704P,SNP,SNVindel,exonic,CEP126,NA,nonsynonymous SNV,"CEP126:NM_020802:exon6:c.T2110C:p.S704P,CEP126:NM_001363543:exon7:c.T1513C:p.S505P",T,N,N,T,N,T
chr12,6833845,6833845,C,T,R011_F,COPS7A,Missense_Mutation,NM_001164093,exon1,c.C23T,p.T8I,SNP,SNVindel,exonic,COPS7A,NA,nonsynonymous SNV,"COPS7A:NM_001164093:exon1:c.C23T:p.T8I,COPS7A:NM_001164094:exon2:c.C23T:p.T8I,COPS7A:NM_001164095:exon2:c.C23T:p.T8I,COPS7A:NM_016319:exon2:c.C23T:p.T8I",D,N,D,.,N,T
chr12,31237922,31237922,G,C,R011_F,DDX11,Missense_Mutation,NM_001257144,exon5,c.G500C,p.R167T,SNP,SNVindel,exonic,DDX11,NA,nonsynonymous SNV,"DDX11:NM_001257144:exon5:c.G500C:p.R167T,DDX11:NM_001257145:exon5:c.G422C:p.R141T,DDX11:NM_004399:exon5:c.G500C:p.R167T,DDX11:NM_030653:exon5:c.G500C:p.R167T,DDX11:NM_152438:exon5:c.G500C:p.R167T",T,N,N,T,N,T
chr12,130647998,130647998,C,A,R011_F,FZD10,Missense_Mutation,NM_007197,exon1,c.C511A,p.P171T,SNP,SNVindel,exonic,FZD10,NA,nonsynonymous SNV,FZD10:NM_007197:exon1:c.C511A:p.P171T,T,U,D,T,D,T
chr14,70170182,70170182,G,A,R011_F,SUSD6,Silent,NM_014734,exon3,c.G192A,p.L64L,SNP,SNVindel,exonic,SUSD6,NA,synonymous SNV,SUSD6:NM_014734:exon3:c.G192A:p.L64L,NA,NA,NA,NA,NA,NA
chr15,58306165,58306165,C,T,R011_F,ALDH1A2,Missense_Mutation,NM_003888,exon3,c.G254A,p.R85H,SNP,SNVindel,exonic,ALDH1A2,NA,nonsynonymous SNV,"ALDH1A2:NM_003888:exon3:c.G254A:p.R85H,ALDH1A2:NM_170696:exon3:c.G254A:p.R85H,ALDH1A2:NM_001206897:exon4:c.G191A:p.R64H",D,D,D,T,D,D
chr16,20999071,20999071,G,A,R011_F,DNAH3,Missense_Mutation,NM_001347886,exon46,c.C6688T,p.R2230W,SNP,SNVindel,exonic,DNAH3,NA,nonsynonymous SNV,"DNAH3:NM_001347886:exon46:c.C6688T:p.R2230W,DNAH3:NM_017539:exon46:c.C6826T:p.R2276W",D,D,D,T,D,D
chr17,10314103,10314103,G,A,R011_F,MYH8,Silent,NM_002472,exon15,c.C1578T,p.L526L,SNP,SNVindel,exonic,MYH8,NA,synonymous SNV,MYH8:NM_002472:exon15:c.C1578T:p.L526L,NA,NA,NA,NA,NA,NA
chr17,80992967,80992967,C,T,R011_F,B3GNTL1,Missense_Mutation,NM_001009905,exon4,c.G286A,p.A96T,SNP,SNVindel,exonic,B3GNTL1,NA,nonsynonymous SNV,"B3GNTL1:NM_001009905:exon4:c.G286A:p.A96T,B3GNTL1:NM_001320742:exon5:c.G244A:p.A82T",D,D,D,T,N,T
chr19,10418975,10418975,C,T,R011_F,ZGLP1,Missense_Mutation,NM_001103167,exon1,c.G383A,p.R128Q,SNP,SNVindel,exonic,ZGLP1,NA,nonsynonymous SNV,ZGLP1:NM_001103167:exon1:c.G383A:p.R128Q,D,.,N,D,N,D
chr19,17273237,17273237,C,T,R011_F,MYO9B,Silent,NM_001130065,exon9,c.C1497T,p.H499H,SNP,SNVindel,exonic,MYO9B,NA,synonymous SNV,"MYO9B:NM_001130065:exon9:c.C1497T:p.H499H,MYO9B:NM_004145:exon9:c.C1497T:p.H499H",NA,NA,NA,NA,NA,NA
chr19,46543595,46543595,G,A,R011_F,IGFL4,Silent,NM_001002923,exon3,c.C150T,p.D50D,SNP,SNVindel,exonic,IGFL4,NA,synonymous SNV,IGFL4:NM_001002923:exon3:c.C150T:p.D50D,NA,NA,NA,NA,NA,NA
chr19,50967697,50967697,G,A,R011_F,MYBPC2,Missense_Mutation,NM_004533,exon27,c.G3323A,p.R1108H,SNP,SNVindel,exonic,MYBPC2,NA,nonsynonymous SNV,MYBPC2:NM_004533:exon27:c.G3323A:p.R1108H,D,U,D,T,D,T
chr20,61596499,61596499,C,T,R011_F,SLC17A9,Missense_Mutation,NM_022082,exon9,c.C926T,p.T309M,SNP,SNVindel,exonic,SLC17A9,NA,nonsynonymous SNV,"SLC17A9:NM_022082:exon9:c.C926T:p.T309M,SLC17A9:NM_001302643:exon10:c.C908T:p.T303M",T,N,D,T,N,T
chr22,43616573,43616573,C,T,R011_F,SCUBE1,Missense_Mutation,NM_173050,exon14,c.G1570A,p.V524M,SNP,SNVindel,exonic,SCUBE1,NA,nonsynonymous SNV,SCUBE1:NM_173050:exon14:c.G1570A:p.V524M,D,D,D,D,N,T
chrX,34149340,34149340,C,T,R011_F,FAM47A,Silent,NM_203408,exon1,c.G1056A,p.S352S,SNP,SNVindel,exonic,FAM47A,NA,synonymous SNV,FAM47A:NM_203408:exon1:c.G1056A:p.S352S,NA,NA,NA,NA,NA,NA
chrX,35820641,35820641,G,A,R011_F,MAGEB16,Missense_Mutation,NM_001099921,exon2,c.G328A,p.A110T,SNP,SNVindel,exonic,MAGEB16,NA,nonsynonymous SNV,"MAGEB16:NM_001099921:exon2:c.G328A:p.A110T,MAGEB16:NM_001370158:exon2:c.G328A:p.A110T,MAGEB16:NM_001370159:exon2:c.G328A:p.A110T",T,N,N,T,N,T
chrX,135957317,135957317,C,T,R011_F,RBMX,Missense_Mutation,NM_001164803,exon6,c.G468A,p.M156I,SNP,SNVindel,exonic,RBMX,NA,nonsynonymous SNV,"RBMX:NM_001164803:exon6:c.G468A:p.M156I,RBMX:NM_002139:exon8:c.G793A:p.G265R",D,U,D,T,D,T
chr2,132120659,132120659,A,G,R011_S,RAB6D,Missense_Mutation,NM_001077637,exon1,c.T635C,p.M212T,SNP,SNVindel,exonic,RAB6D,NA,nonsynonymous SNV,RAB6D:NM_001077637:exon1:c.T635C:p.M212T,NA,NA,NA,NA,NA,NA
chr3,158408105,158408105,A,G,R011_S,GFM1,Missense_Mutation,NM_024996,exon16,c.A2063G,p.Y688C,SNP,SNVindel,exonic,GFM1,NA,nonsynonymous SNV,"GFM1:NM_024996:exon16:c.A2063G:p.Y688C,GFM1:NM_001308164:exon17:c.A2120G:p.Y707C",T,D,D,T,D,T
chr4,39439551,39439551,C,T,R011_S,KLB,Missense_Mutation,NM_175737,exon3,c.C1541T,p.T514M,SNP,SNVindel,exonic,KLB,NA,nonsynonymous SNV,KLB:NM_175737:exon3:c.C1541T:p.T514M,T,D,D,T,N,T
chr5,106717030,106717030,C,T,R011_S,EFNA5,Missense_Mutation,NM_001962,exon5,c.G613A,p.A205T,SNP,SNVindel,exonic,EFNA5,NA,nonsynonymous SNV,EFNA5:NM_001962:exon5:c.G613A:p.A205T,D,D,D,D,N,D
chr5,141004755,141004755,T,A,R011_S,HDAC3,Missense_Mutation,NM_001355039,exon14,c.A1237T,p.S413C,SNP,SNVindel,exonic,HDAC3,NA,nonsynonymous SNV,HDAC3:NM_001355039:exon14:c.A1237T:p.S413C,NA,NA,NA,NA,NA,NA
chr7,50597033,50597033,G,T,R011_S,DDC,Missense_Mutation,NM_001242888,exon3,c.C209A,p.A70D,SNP,SNVindel,exonic,DDC,NA,nonsynonymous SNV,"DDC:NM_001242888:exon3:c.C209A:p.A70D,DDC:NM_001242886:exon4:c.C329A:p.A110D,DDC:NM_000790:exon5:c.C443A:p.A148D,DDC:NM_001082971:exon5:c.C443A:p.A148D,DDC:NM_001242887:exon5:c.C443A:p.A148D,DDC:NM_001242890:exon5:c.C443A:p.A148D",D,D,D,T,D,D
chr8,48625412,48625412,C,T,R011_S,SPIDR,Silent,NM_001352959,exon6,c.C681T,p.F227F,SNP,SNVindel,exonic,SPIDR,NA,synonymous SNV,"SPIDR:NM_001352959:exon6:c.C681T:p.F227F,SPIDR:NM_001352960:exon8:c.C591T:p.F197F,SPIDR:NM_001352945:exon11:c.C1440T:p.F480F,SPIDR:NM_001352941:exon12:c.C1650T:p.F550F,SPIDR:NM_001352944:exon12:c.C1650T:p.F550F,SPIDR:NM_001352953:exon12:c.C1233T:p.F411F,SPIDR:NM_001352956:exon12:c.C1233T:p.F411F,SPIDR:NM_001352939:exon13:c.C1674T:p.F558F,SPIDR:NM_001352942:exon13:c.C1509T:p.F503F,SPIDR:NM_001352952:exon13:c.C1233T:p.F411F,SPIDR:NM_001352955:exon13:c.C1233T:p.F411F,SPIDR:NM_001352957:exon13:c.C1233T:p.F411F,SPIDR:NM_001282916:exon14:c.C1956T:p.F652F,SPIDR:NM_001352935:exon14:c.C1956T:p.F652F,SPIDR:NM_001352936:exon14:c.C1956T:p.F652F,SPIDR:NM_001352938:exon14:c.C1674T:p.F558F,SPIDR:NM_001352940:exon14:c.C1674T:p.F558F,SPIDR:NM_001352943:exon14:c.C1674T:p.F558F,SPIDR:NM_001352946:exon14:c.C1416T:p.F472F,SPIDR:NM_001352948:exon14:c.C1416T:p.F472F,SPIDR:NM_001352950:exon14:c.C1674T:p.F558F,SPIDR:NM_001352951:exon14:c.C1416T:p.F472F,SPIDR:NM_001080394:exon15:c.C2166T:p.F722F,SPIDR:NM_001282919:exon15:c.C1986T:p.F662F,SPIDR:NM_001352931:exon15:c.C2166T:p.F722F,SPIDR:NM_001352932:exon15:c.C2046T:p.F682F,SPIDR:NM_001352933:exon15:c.C1986T:p.F662F,SPIDR:NM_001352934:exon15:c.C2166T:p.F722F,SPIDR:NM_001352937:exon15:c.C1986T:p.F662F,SPIDR:NM_001352947:exon15:c.C1416T:p.F472F,SPIDR:NM_001352961:exon15:c.C2166T:p.F722F,SPIDR:NM_001352949:exon16:c.C1509T:p.F503F,SPIDR:NM_001352958:exon17:c.C918T:p.F306F",NA,NA,NA,NA,NA,NA
chr8,121292247,121292247,C,T,R011_S,COL14A1,Silent,NM_021110,exon29,c.C3555T,p.S1185S,SNP,SNVindel,exonic,COL14A1,NA,synonymous SNV,COL14A1:NM_021110:exon29:c.C3555T:p.S1185S,NA,NA,NA,NA,NA,NA
chr9,105767032,105767032,G,A,R011_S,CYLC2,Missense_Mutation,NM_001340,exon4,c.G236A,p.R79H,SNP,SNVindel,exonic,CYLC2,NA,nonsynonymous SNV,CYLC2:NM_001340:exon4:c.G236A:p.R79H,T,N,N,T,N,T
chr14,70170182,70170182,G,A,R011_S,SUSD6,Silent,NM_014734,exon3,c.G192A,p.L64L,SNP,SNVindel,exonic,SUSD6,NA,synonymous SNV,SUSD6:NM_014734:exon3:c.G192A:p.L64L,NA,NA,NA,NA,NA,NA
chr17,39274087,39274087,G,C,R011_S,KRTAP4-11,Missense_Mutation,NM_033059,exon1,c.C481G,p.L161V,SNP,SNVindel,exonic,KRTAP4-11,NA,nonsynonymous SNV,KRTAP4-11:NM_033059:exon1:c.C481G:p.L161V,T,.,P,T,N,T
chr19,40392347,40392347,C,G,R011_S,FCGBP,Missense_Mutation,NM_003890,exon16,c.G8157C,p.Q2719H,SNP,SNVindel,exonic,FCGBP,NA,nonsynonymous SNV,FCGBP:NM_003890:exon16:c.G8157C:p.Q2719H,NA,NA,NA,NA,NA,NA
chrX,34149340,34149340,C,T,R011_S,FAM47A,Silent,NM_203408,exon1,c.G1056A,p.S352S,SNP,SNVindel,exonic,FAM47A,NA,synonymous SNV,FAM47A:NM_203408:exon1:c.G1056A:p.S352S,NA,NA,NA,NA,NA,NA
chr1,72748041,72748041,T,C,R012_F,NEGR1,Missense_Mutation,NM_173808,exon1,c.A137G,p.D46G,SNP,SNVindel,exonic,NEGR1,NA,nonsynonymous SNV,NEGR1:NM_173808:exon1:c.A137G:p.D46G,D,D,D,T,D,T
chr1,79412073,79412073,C,T,R012_F,ADGRL4,Missense_Mutation,NM_022159,exon3,c.G211A,p.E71K,SNP,SNVindel,exonic,ADGRL4,NA,nonsynonymous SNV,ADGRL4:NM_022159:exon3:c.G211A:p.E71K,D,N,D,D,N,T
chr1,103435825,103435825,G,T,R012_F,COL11A1,Missense_Mutation,NM_080630,exon35,c.C2464A,p.P822T,SNP,SNVindel,exonic,COL11A1,NA,nonsynonymous SNV,"COL11A1:NM_080630:exon35:c.C2464A:p.P822T,COL11A1:NM_001190709:exon36:c.C2695A:p.P899T,COL11A1:NM_001854:exon37:c.C2812A:p.P938T,COL11A1:NM_080629:exon37:c.C2848A:p.P950T",D,D,D,T,D,T
chr1,152128812,152128812,G,T,R012_F,RPTN,Missense_Mutation,NM_001122965,exon3,c.C763A,p.Q255K,SNP,SNVindel,exonic,RPTN,NA,nonsynonymous SNV,RPTN:NM_001122965:exon3:c.C763A:p.Q255K,T,.,N,T,N,T
chr1,236732307,236732307,C,T,R012_F,HEATR1,Missense_Mutation,NM_018072,exon29,c.G4066A,p.A1356T,SNP,SNVindel,exonic,HEATR1,NA,nonsynonymous SNV,HEATR1:NM_018072:exon29:c.G4066A:p.A1356T,D,D,D,T,N,T
chr2,33811629,33811629,C,T,R012_F,FAM98A,Silent,NM_001304538,exon5,c.G135A,p.K45K,SNP,SNVindel,exonic,FAM98A,NA,synonymous SNV,"FAM98A:NM_001304538:exon5:c.G135A:p.K45K,FAM98A:NM_015475:exon6:c.G720A:p.K240K",NA,NA,NA,NA,NA,NA
chr2,96690567,96690567,A,G,R012_F,GPAT2,Missense_Mutation,NM_001321529,exon13,c.T1169C,p.M390T,SNP,SNVindel,exonic,GPAT2,NA,nonsynonymous SNV,"GPAT2:NM_001321529:exon13:c.T1169C:p.M390T,GPAT2:NM_001321530:exon13:c.T1169C:p.M390T,GPAT2:NM_001321525:exon14:c.T1382C:p.M461T,GPAT2:NM_001321526:exon14:c.T1382C:p.M461T,GPAT2:NM_001321527:exon14:c.T1382C:p.M461T,GPAT2:NM_001321528:exon14:c.T1382C:p.M461T,GPAT2:NM_207328:exon14:c.T1382C:p.M461T,GPAT2:NM_001321531:exon15:c.T1382C:p.M461T",T,D,D,D,D,D
chr2,137852487,137852487,T,C,R012_F,THSD7B,Missense_Mutation,NM_001316349,exon4,c.T995C,p.I332T,SNP,SNVindel,exonic,THSD7B,NA,nonsynonymous SNV,THSD7B:NM_001316349:exon4:c.T995C:p.I332T,D,N,N,T,D,T
chr2,166243460,166243460,C,T,R012_F,SCN2A,Missense_Mutation,NM_001040142,exon26,c.C4756T,p.R1586C,SNP,SNVindel,exonic,SCN2A,NA,nonsynonymous SNV,"SCN2A:NM_001040142:exon26:c.C4756T:p.R1586C,SCN2A:NM_001371246:exon26:c.C4756T:p.R1586C,SCN2A:NM_001371247:exon26:c.C4756T:p.R1586C,SCN2A:NM_021007:exon26:c.C4756T:p.R1586C,SCN2A:NM_001040143:exon27:c.C4756T:p.R1586C",D,D,D,D,D,D
chr2,168107381,168107381,C,T,R012_F,XIRP2,Missense_Mutation,NM_001199144,exon7,c.C8813T,p.S2938L,SNP,SNVindel,exonic,XIRP2,NA,nonsynonymous SNV,"XIRP2:NM_001199144:exon7:c.C8813T:p.S2938L,XIRP2:NM_152381:exon9:c.C9479T:p.S3160L",T,N,N,T,N,T
chr2,180809953,180809953,C,T,R012_F,CWC22,Missense_Mutation,NM_020943,exon20,c.G2630A,p.R877K,SNP,SNVindel,exonic,CWC22,NA,nonsynonymous SNV,CWC22:NM_020943:exon20:c.G2630A:p.R877K,T,N,D,T,N,T
chr2,209179964,209179964,A,G,R012_F,PIKFYVE,Missense_Mutation,NM_015040,exon15,c.A1874G,p.H625R,SNP,SNVindel,exonic,PIKFYVE,NA,nonsynonymous SNV,PIKFYVE:NM_015040:exon15:c.A1874G:p.H625R,T,D,N,T,N,T
chr2,212251821,212251821,G,A,R012_F,ERBB4,Missense_Mutation,NM_001042599,exon26,c.C3190T,p.P1064S,SNP,SNVindel,exonic,ERBB4,NA,nonsynonymous SNV,"ERBB4:NM_001042599:exon26:c.C3190T:p.P1064S,ERBB4:NM_005235:exon27:c.C3238T:p.P1080S",T,D,D,T,N,T
chr2,233246246,233246246,A,G,R012_F,ALPP,Missense_Mutation,NM_001632,exon11,c.A1349G,p.D450G,SNP,SNVindel,exonic,ALPP,NA,nonsynonymous SNV,ALPP:NM_001632:exon11:c.A1349G:p.D450G,T,N,N,D,N,T
chr3,97661153,97661153,T,C,R012_F,CRYBG3,Missense_Mutation,NM_153605,exon21,c.T8690C,p.I2897T,SNP,SNVindel,exonic,CRYBG3,NA,nonsynonymous SNV,CRYBG3:NM_153605:exon21:c.T8690C:p.I2897T,.,D,D,.,.,T
chr3,126142422,126142422,C,A,R012_F,CFAP100,Missense_Mutation,NM_182628,exon13,c.C1221A,p.N407K,SNP,SNVindel,exonic,CFAP100,NA,nonsynonymous SNV,CFAP100:NM_182628:exon13:c.C1221A:p.N407K,D,D,D,T,D,T
chr4,5642557,5642557,A,G,R012_F,EVC2,Missense_Mutation,NM_001166136,exon10,c.T914C,p.I305T,SNP,SNVindel,exonic,EVC2,NA,nonsynonymous SNV,"EVC2:NM_001166136:exon10:c.T914C:p.I305T,EVC2:NM_147127:exon10:c.T1154C:p.I385T",D,N,D,T,N,D
chr4,13612625,13612625,T,C,R012_F,BOD1L1,Missense_Mutation,NM_148894,exon6,c.A1424G,p.Y475C,SNP,SNVindel,exonic,BOD1L1,NA,nonsynonymous SNV,BOD1L1:NM_148894:exon6:c.A1424G:p.Y475C,D,N,D,T,D,T
chr4,71472377,71472377,C,T,R012_F,AMBN,Missense_Mutation,NM_016519,exon13,c.C1274T,p.T425I,SNP,SNVindel,exonic,AMBN,NA,nonsynonymous SNV,AMBN:NM_016519:exon13:c.C1274T:p.T425I,T,D,N,T,D,T
chr4,100261739,100261739,A,T,R012_F,ADH1C,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ADH1C,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr4,183522262,183522262,G,A,R012_F,TENM3,Missense_Mutation,NM_001080477,exon4,c.G697A,p.V233I,SNP,SNVindel,exonic,TENM3,NA,nonsynonymous SNV,TENM3:NM_001080477:exon4:c.G697A:p.V233I,D,.,D,T,N,T
chr5,9190496,9190496,C,A,R012_F,SEMA5A,Missense_Mutation,NM_003966,exon11,c.G1156T,p.V386L,SNP,SNVindel,exonic,SEMA5A,NA,nonsynonymous SNV,SEMA5A:NM_003966:exon11:c.G1156T:p.V386L,D,D,D,T,D,T
chr5,74034379,74034379,A,T,R012_F,GFM2,Missense_Mutation,NM_032380,exon13,c.T1168A,p.S390T,SNP,SNVindel,exonic,GFM2,NA,nonsynonymous SNV,"GFM2:NM_032380:exon13:c.T1168A:p.S390T,GFM2:NM_170681:exon13:c.T1168A:p.S390T,GFM2:NM_001281302:exon14:c.T1264A:p.S422T",T,D,D,T,N,D
chr5,140811627,140811627,C,T,R012_F,PCDHGA12,Missense_Mutation,NM_003735,exon1,c.C1301T,p.T434M,SNP,SNVindel,exonic,PCDHGA12,NA,nonsynonymous SNV,"PCDHGA12:NM_003735:exon1:c.C1301T:p.T434M,PCDHGA12:NM_032094:exon1:c.C1301T:p.T434M",D,.,N,T,D,T
chr5,169028413,169028413,A,G,R012_F,SPDL1,Missense_Mutation,NM_001329639,exon11,c.A1454G,p.E485G,SNP,SNVindel,exonic,SPDL1,NA,nonsynonymous SNV,"SPDL1:NM_001329639:exon11:c.A1454G:p.E485G,SPDL1:NM_001329640:exon11:c.A1454G:p.E485G,SPDL1:NM_001329641:exon11:c.A1454G:p.E485G,SPDL1:NM_017785:exon11:c.A1454G:p.E485G,SPDL1:NM_001329642:exon12:c.A1241G:p.E414G,SPDL1:NM_001329643:exon12:c.A1241G:p.E414G",D,N,N,T,D,T
chr5,178634576,178634576,A,G,R012_F,ADAMTS2,Missense_Mutation,NM_014244,exon4,c.T829C,p.S277P,SNP,SNVindel,exonic,ADAMTS2,NA,nonsynonymous SNV,"ADAMTS2:NM_014244:exon4:c.T829C:p.S277P,ADAMTS2:NM_021599:exon4:c.T829C:p.S277P",D,D,D,T,D,T
chr6,7231880,7231880,A,T,R012_F,RREB1,Missense_Mutation,NM_001003698,exon10,c.A3548T,p.K1183M,SNP,SNVindel,exonic,RREB1,NA,nonsynonymous SNV,"RREB1:NM_001003698:exon10:c.A3548T:p.K1183M,RREB1:NM_001003699:exon10:c.A3548T:p.K1183M,RREB1:NM_001003700:exon10:c.A3548T:p.K1183M,RREB1:NM_001168344:exon10:c.A3548T:p.K1183M",D,D,D,T,D,T
chr6,44198147,44198147,C,T,R012_F,SLC29A1,Missense_Mutation,NM_001304463,exon6,c.C644T,p.T215M,SNP,SNVindel,exonic,SLC29A1,NA,nonsynonymous SNV,"SLC29A1:NM_001304463:exon6:c.C644T:p.T215M,SLC29A1:NM_001304465:exon6:c.C596T:p.T199M,SLC29A1:NM_001304466:exon6:c.C593T:p.T198M,SLC29A1:NM_001078175:exon7:c.C518T:p.T173M,SLC29A1:NM_001078177:exon7:c.C518T:p.T173M,SLC29A1:NM_001304462:exon7:c.C755T:p.T252M",D,D,D,T,D,T
chr6,47251857,47251857,T,C,R012_F,TNFRSF21,Missense_Mutation,NM_014452,exon3,c.A1060G,p.I354V,SNP,SNVindel,exonic,TNFRSF21,NA,nonsynonymous SNV,TNFRSF21:NM_014452:exon3:c.A1060G:p.I354V,D,D,D,T,N,T
chr6,78172929,78172929,C,T,R012_F,HTR1B,Silent,NM_000863,exon1,c.G192A,p.T64T,SNP,SNVindel,exonic,HTR1B,NA,synonymous SNV,HTR1B:NM_000863:exon1:c.G192A:p.T64T,NA,NA,NA,NA,NA,NA
chr6,127796760,127796760,G,C,R012_F,SOGA3,Missense_Mutation,NM_001012279,exon6,c.C2411G,p.P804R,SNP,SNVindel,exonic,SOGA3,NA,nonsynonymous SNV,SOGA3:NM_001012279:exon6:c.C2411G:p.P804R,T,N,D,T,N,T
chr7,4281500,4281500,G,A,R012_F,SDK1,Missense_Mutation,NM_001079653,exon17,c.G1667A,p.R556H,SNP,SNVindel,exonic,SDK1,NA,nonsynonymous SNV,"SDK1:NM_001079653:exon17:c.G1667A:p.R556H,SDK1:NM_152744:exon43:c.G6206A:p.R2069H",D,D,D,T,D,T
chr7,11486868,11486868,C,G,R012_F,THSD7A,Missense_Mutation,NM_015204,exon12,c.G2789C,p.R930P,SNP,SNVindel,exonic,THSD7A,NA,nonsynonymous SNV,THSD7A:NM_015204:exon12:c.G2789C:p.R930P,D,D,D,T,D,T
chr7,100404127,100404127,G,T,R012_F,EPHB4,Missense_Mutation,NM_004444,exon14,c.C2399A,p.A800D,SNP,SNVindel,exonic,EPHB4,NA,nonsynonymous SNV,EPHB4:NM_004444:exon14:c.C2399A:p.A800D,D,D,D,T,D,D
chr7,138413511,138413511,A,G,R012_F,ATP6V0A4,Missense_Mutation,NM_130840,exon17,c.T2005C,p.S669P,SNP,SNVindel,exonic,ATP6V0A4,NA,nonsynonymous SNV,"ATP6V0A4:NM_130840:exon17:c.T2005C:p.S669P,ATP6V0A4:NM_130841:exon17:c.T2005C:p.S669P,ATP6V0A4:NM_020632:exon18:c.T2005C:p.S669P",T,N,D,D,N,T
chr7,138968645,138968645,C,T,R012_F,UBN2,Silent,NM_173569,exon15,c.C2994T,p.P998P,SNP,SNVindel,exonic,UBN2,NA,synonymous SNV,UBN2:NM_173569:exon15:c.C2994T:p.P998P,NA,NA,NA,NA,NA,NA
chr7,143001007,143001007,C,T,R012_F,CASP2,Silent,NM_032982,exon9,c.C1098T,p.C366C,SNP,SNVindel,exonic,CASP2,NA,synonymous SNV,CASP2:NM_032982:exon9:c.C1098T:p.C366C,NA,NA,NA,NA,NA,NA
chr8,3474306,3474306,A,G,R012_F,CSMD1,Silent,NM_033225,exon8,c.T1023C,p.G341G,SNP,SNVindel,exonic,CSMD1,NA,synonymous SNV,CSMD1:NM_033225:exon8:c.T1023C:p.G341G,NA,NA,NA,NA,NA,NA
chr8,97157162,97157162,G,A,R012_F,GDF6,Missense_Mutation,NM_001001557,exon2,c.C997T,p.R333W,SNP,SNVindel,exonic,GDF6,NA,nonsynonymous SNV,GDF6:NM_001001557:exon2:c.C997T:p.R333W,D,D,D,D,D,T
chr8,101164087,101164087,C,A,R012_F,POLR2K,Missense_Mutation,NM_005034,exon3,c.C97A,p.P33T,SNP,SNVindel,exonic,POLR2K,NA,nonsynonymous SNV,POLR2K:NM_005034:exon3:c.C97A:p.P33T,T,N,D,.,D,T
chr8,110465042,110465042,A,C,R012_F,PKHD1L1,Silent,NM_177531,exon43,c.A6603C,p.T2201T,SNP,SNVindel,exonic,PKHD1L1,NA,synonymous SNV,PKHD1L1:NM_177531:exon43:c.A6603C:p.T2201T,NA,NA,NA,NA,NA,NA
chr9,27949220,27949220,T,C,R012_F,LINGO2,Missense_Mutation,NM_001354574,exon6,c.A1450G,p.I484V,SNP,SNVindel,exonic,LINGO2,NA,nonsynonymous SNV,"LINGO2:NM_001354574:exon6:c.A1450G:p.I484V,LINGO2:NM_001258282:exon7:c.A1450G:p.I484V,LINGO2:NM_001354575:exon7:c.A1450G:p.I484V,LINGO2:NM_152570:exon7:c.A1450G:p.I484V",T,D,D,T,N,T
chr10,71166943,71166943,T,G,R012_F,TACR2,Missense_Mutation,NM_001057,exon4,c.A835C,p.I279L,SNP,SNVindel,exonic,TACR2,NA,nonsynonymous SNV,TACR2:NM_001057:exon4:c.A835C:p.I279L,T,D,D,T,N,T
chr10,89711894,89711894,A,G,R012_F,PTEN,Missense_Mutation,NM_000314,exon6,c.A512G,p.Q171R,SNP,SNVindel,exonic,PTEN,NA,nonsynonymous SNV,"PTEN:NM_000314:exon6:c.A512G:p.Q171R,PTEN:NM_001304717:exon7:c.A1031G:p.Q344R",D,D,D,D,D,D
chr10,101090293,101090293,G,A,R012_F,CNNM1,Silent,NM_001345887,exon1,c.G1149A,p.A383A,SNP,SNVindel,exonic,CNNM1,NA,synonymous SNV,"CNNM1:NM_001345887:exon1:c.G1149A:p.A383A,CNNM1:NM_001345888:exon1:c.G1149A:p.A383A,CNNM1:NM_001345889:exon1:c.G1149A:p.A383A,CNNM1:NM_020348:exon1:c.G1149A:p.A383A",NA,NA,NA,NA,NA,NA
chr10,102683844,102683844,G,T,R012_F,SLF2,Missense_Mutation,NM_001136123,exon5,c.G1086T,p.E362D,SNP,SNVindel,exonic,SLF2,NA,nonsynonymous SNV,"SLF2:NM_001136123:exon5:c.G1086T:p.E362D,SLF2:NM_018121:exon5:c.G1086T:p.E362D",D,D,N,T,N,T
chr11,7982563,7982563,C,T,R012_F,NLRP10,Missense_Mutation,NM_176821,exon2,c.G596A,p.R199Q,SNP,SNVindel,exonic,NLRP10,NA,nonsynonymous SNV,NLRP10:NM_176821:exon2:c.G596A:p.R199Q,T,N,N,T,D,T
chr11,55433339,55433339,A,C,R012_F,OR4C6,Missense_Mutation,NM_001004704,exon1,c.A697C,p.K233Q,SNP,SNVindel,exonic,OR4C6,NA,nonsynonymous SNV,OR4C6:NM_001004704:exon1:c.A697C:p.K233Q,D,N,N,T,D,T
chr11,70333466,70333466,G,A,R012_F,SHANK2,Missense_Mutation,NM_133266,exon10,c.C1168T,p.R390C,SNP,SNVindel,exonic,SHANK2,NA,nonsynonymous SNV,SHANK2:NM_133266:exon10:c.C1168T:p.R390C,D,N,D,T,D,T
chr11,85436367,85436367,A,T,R012_F,SYTL2,Missense_Mutation,NM_206927,exon8,c.T4034A,p.V1345E,SNP,SNVindel,exonic,SYTL2,NA,nonsynonymous SNV,"SYTL2:NM_206927:exon8:c.T4034A:p.V1345E,SYTL2:NM_206928:exon8:c.T4031A:p.V1344E",NA,NA,NA,NA,NA,NA
chr11,113235716,113235716,C,T,R012_F,TTC12,Missense_Mutation,NM_001352037,exon20,c.C1901T,p.T634I,SNP,SNVindel,exonic,TTC12,NA,nonsynonymous SNV,"TTC12:NM_001352037:exon20:c.C1901T:p.T634I,TTC12:NM_001318533:exon21:c.C1994T:p.T665I,TTC12:NM_017868:exon21:c.C1976T:p.T659I,TTC12:NM_001352038:exon23:c.C1526T:p.T509I",D,N,N,T,N,T
chr11,113258659,113258659,G,A,R012_F,ANKK1,Missense_Mutation,NM_178510,exon1,c.G53A,p.R18H,SNP,SNVindel,exonic,ANKK1,NA,nonsynonymous SNV,ANKK1:NM_178510:exon1:c.G53A:p.R18H,T,U,N,T,N,T
chr11,118918523,118918523,G,A,R012_F,HYOU1,Missense_Mutation,NM_001130991,exon22,c.C2518T,p.R840W,SNP,SNVindel,exonic,HYOU1,NA,nonsynonymous SNV,"HYOU1:NM_001130991:exon22:c.C2518T:p.R840W,HYOU1:NM_006389:exon22:c.C2518T:p.R840W",.,D,D,.,.,T
chr12,12982482,12982482,C,A,R012_F,DDX47,Silent,NM_201224,exon11,c.C1215A,p.G405G,SNP,SNVindel,exonic,DDX47,NA,synonymous SNV,"DDX47:NM_201224:exon11:c.C1215A:p.G405G,DDX47:NM_016355:exon12:c.C1362A:p.G454G",NA,NA,NA,NA,NA,NA
chr12,13364465,13364465,T,C,R012_F,EMP1,Silent,NM_001423,exon2,c.T21C,p.G7G,SNP,SNVindel,exonic,EMP1,NA,synonymous SNV,EMP1:NM_001423:exon2:c.T21C:p.G7G,NA,NA,NA,NA,NA,NA
chr12,57865279,57865279,C,T,R012_F,GLI1,Missense_Mutation,NM_001160045,exon10,c.C2372T,p.P791L,SNP,SNVindel,exonic,GLI1,NA,nonsynonymous SNV,"GLI1:NM_001160045:exon10:c.C2372T:p.P791L,GLI1:NM_001167609:exon11:c.C2633T:p.P878L,GLI1:NM_005269:exon12:c.C2756T:p.P919L",D,N,N,T,N,T
chr12,86199037,86199037,A,G,R012_F,RASSF9,Missense_Mutation,NM_005447,exon2,c.T751C,p.Y251H,SNP,SNVindel,exonic,RASSF9,NA,nonsynonymous SNV,RASSF9:NM_005447:exon2:c.T751C:p.Y251H,T,U,N,T,N,T
chr12,88530523,88530523,A,G,R012_F,CEP290,Missense_Mutation,NM_025114,exon6,c.T338C,p.L113S,SNP,SNVindel,exonic,CEP290,NA,nonsynonymous SNV,CEP290:NM_025114:exon6:c.T338C:p.L113S,D,D,D,T,N,D
chr12,132400447,132400447,C,T,R012_F,ULK1,Missense_Mutation,NM_003565,exon19,c.C1621T,p.P541S,SNP,SNVindel,exonic,ULK1,NA,nonsynonymous SNV,ULK1:NM_003565:exon19:c.C1621T:p.P541S,D,D,D,T,N,T
chr13,20426004,20426004,A,C,R012_F,ZMYM5,Missense_Mutation,NM_001039649,exon3,c.T317G,p.L106W,SNP,SNVindel,exonic,ZMYM5,NA,nonsynonymous SNV,"ZMYM5:NM_001039649:exon3:c.T317G:p.L106W,ZMYM5:NM_001039650:exon3:c.T317G:p.L106W,ZMYM5:NM_001142684:exon3:c.T317G:p.L106W",D,.,N,T,D,T
chr13,32835844,32835844,A,C,R012_F,FRY,Missense_Mutation,NM_023037,exon52,c.A7508C,p.Q2503P,SNP,SNVindel,exonic,FRY,NA,nonsynonymous SNV,FRY:NM_023037:exon52:c.A7508C:p.Q2503P,.,N,D,.,.,T
chr13,45523879,45523879,T,C,R012_F,NUFIP1,Silent,NM_012345,exon8,c.A1116G,p.S372S,SNP,SNVindel,exonic,NUFIP1,NA,synonymous SNV,NUFIP1:NM_012345:exon8:c.A1116G:p.S372S,NA,NA,NA,NA,NA,NA
chr13,95121127,95121127,G,A,R012_F,DCT,Silent,NM_001129889,exon2,c.C468T,p.Y156Y,SNP,SNVindel,exonic,DCT,NA,synonymous SNV,"DCT:NM_001129889:exon2:c.C468T:p.Y156Y,DCT:NM_001922:exon2:c.C468T:p.Y156Y,DCT:NM_001322186:exon4:c.C279T:p.Y93Y",NA,NA,NA,NA,NA,NA
chr14,20471035,20471035,C,T,R012_F,OR4Q2,Missense_Mutation,NM_001348271,exon2,c.C713T,p.T238M,SNP,SNVindel,exonic,OR4Q2,NA,nonsynonymous SNV,OR4Q2:NM_001348271:exon2:c.C713T:p.T238M,.,.,.,.,.,.
chr14,35240782,35240782,T,G,R012_F,BAZ1A,Missense_Mutation,NM_182648,exon20,c.A3140C,p.Y1047S,SNP,SNVindel,exonic,BAZ1A,NA,nonsynonymous SNV,"BAZ1A:NM_182648:exon20:c.A3140C:p.Y1047S,BAZ1A:NM_013448:exon21:c.A3236C:p.Y1079S",T,N,N,T,N,T
chr15,41106223,41106223,G,A,R012_F,ZFYVE19,Missense_Mutation,NM_001258420,exon9,c.G1088A,p.R363H,SNP,SNVindel,exonic,ZFYVE19,NA,nonsynonymous SNV,"ZFYVE19:NM_001258420:exon9:c.G1088A:p.R363H,ZFYVE19:NM_001077268:exon10:c.G1292A:p.R431H,ZFYVE19:NM_001258421:exon10:c.G767A:p.R256H,ZFYVE19:NM_032850:exon11:c.G1262A:p.R421H",D,N,D,T,D,T
chr15,45392256,45392256,C,T,R012_F,DUOX2,Missense_Mutation,NM_001363711,exon24,c.G3176A,p.R1059H,SNP,SNVindel,exonic,DUOX2,NA,nonsynonymous SNV,"DUOX2:NM_001363711:exon24:c.G3176A:p.R1059H,DUOX2:NM_014080:exon24:c.G3176A:p.R1059H",D,D,D,D,D,T
chr15,64472573,64472573,G,A,R012_F,CSNK1G1,Silent,NM_001329606,exon11,c.C1188T,p.A396A,SNP,SNVindel,exonic,CSNK1G1,NA,synonymous SNV,"CSNK1G1:NM_001329606:exon11:c.C1188T:p.A396A,CSNK1G1:NM_001329607:exon11:c.C1188T:p.A396A,CSNK1G1:NM_022048:exon11:c.C1188T:p.A396A,CSNK1G1:NM_001329605:exon12:c.C1299T:p.A433A",NA,NA,NA,NA,NA,NA
chr15,75632076,75632076,A,C,R012_F,COMMD4,Missense_Mutation,NM_001321845,exon5,c.A278C,p.D93A,SNP,SNVindel,exonic,COMMD4,NA,nonsynonymous SNV,"COMMD4:NM_001321845:exon5:c.A278C:p.D93A,COMMD4:NM_001321847:exon6:c.A350C:p.D117A,COMMD4:NM_001321848:exon6:c.A434C:p.D145A,COMMD4:NM_001321844:exon7:c.A344C:p.D115A,COMMD4:NM_017828:exon7:c.A416C:p.D139A",D,D,D,T,D,T
chr15,102358493,102358493,A,T,R012_F,OR4F15,Missense_Mutation,NM_001001674,exon1,c.A104T,p.Y35F,SNP,SNVindel,exonic,OR4F15,NA,nonsynonymous SNV,OR4F15:NM_001001674:exon1:c.A104T:p.Y35F,D,N,N,T,D,T
chr16,4242798,4242798,G,T,R012_F,SRL,Missense_Mutation,NM_001098814,exon6,c.C778A,p.L260M,SNP,SNVindel,exonic,SRL,NA,nonsynonymous SNV,"SRL:NM_001098814:exon6:c.C778A:p.L260M,SRL:NM_001323667:exon7:c.C652A:p.L218M,SRL:NM_001323668:exon7:c.C652A:p.L218M",D,U,D,D,N,D
chr16,31422131,31422131,G,A,R012_F,ITGAD,Missense_Mutation,NM_001318185,exon12,c.G1288A,p.G430R,SNP,SNVindel,exonic,ITGAD,NA,nonsynonymous SNV,"ITGAD:NM_001318185:exon12:c.G1288A:p.G430R,ITGAD:NM_005353:exon12:c.G1288A:p.G430R",D,.,D,T,D,D
chr16,47531357,47531357,A,G,R012_F,PHKB,Missense_Mutation,NM_000293,exon2,c.A124G,p.N42D,SNP,SNVindel,exonic,PHKB,NA,nonsynonymous SNV,"PHKB:NM_000293:exon2:c.A124G:p.N42D,PHKB:NM_001363837:exon2:c.A124G:p.N42D,PHKB:NM_001031835:exon3:c.A103G:p.N35D",T,N,N,D,N,T
chr16,67691736,67691736,A,C,R012_F,ACD,Silent,NM_001082486,exon11,c.T1227G,p.R409R,SNP,SNVindel,exonic,ACD,NA,synonymous SNV,"ACD:NM_001082486:exon11:c.T1227G:p.R409R,ACD:NM_022914:exon11:c.T1218G:p.R406R",NA,NA,NA,NA,NA,NA
chr17,11882006,11882006,C,G,R012_F,ZNF18,Missense_Mutation,NM_001303281,exon7,c.G918C,p.Q306H,SNP,SNVindel,exonic,ZNF18,NA,nonsynonymous SNV,"ZNF18:NM_001303281:exon7:c.G918C:p.Q306H,ZNF18:NM_001303282:exon7:c.G915C:p.Q305H,ZNF18:NM_144680:exon9:c.G918C:p.Q306H",D,D,D,T,N,T
chr17,27448149,27448149,C,T,R012_F,MYO18A,Silent,NM_001346767,exon6,c.G1452A,p.A484A,SNP,SNVindel,exonic,MYO18A,NA,synonymous SNV,"MYO18A:NM_001346767:exon6:c.G1452A:p.A484A,MYO18A:NM_001346768:exon6:c.G78A:p.A26A,MYO18A:NM_078471:exon6:c.G1452A:p.A484A,MYO18A:NM_203318:exon6:c.G1452A:p.A484A,MYO18A:NM_001346765:exon7:c.G1488A:p.A496A,MYO18A:NM_001346766:exon7:c.G1488A:p.A496A",NA,NA,NA,NA,NA,NA
chr17,39240627,39240627,T,C,R012_F,KRTAP4-7,Missense_Mutation,NM_001365252,exon1,c.T169C,p.S57P,SNP,SNVindel,exonic,KRTAP4-7;LOC100996750,NA,nonsynonymous SNV,"LOC100996750:NM_001365252:exon1:c.T169C:p.S57P,KRTAP4-7:NM_033061:exon1:c.T169C:p.S57P",T,N,N,T,N,T
chr17,39261693,39261693,A,T,R012_F,KRTAP4-9,Missense_Mutation,NM_001146041,exon1,c.A53T,p.D18V,SNP,SNVindel,exonic,KRTAP4-9,NA,nonsynonymous SNV,KRTAP4-9:NM_001146041:exon1:c.A53T:p.D18V,T,.,P,T,N,T
chr17,48051097,48051097,G,A,R012_F,DLX4,Silent,NM_001934,exon2,c.G297A,p.K99K,SNP,SNVindel,exonic,DLX4,NA,synonymous SNV,"DLX4:NM_001934:exon2:c.G297A:p.K99K,DLX4:NM_138281:exon3:c.G513A:p.K171K",NA,NA,NA,NA,NA,NA
chr17,48195534,48195534,G,A,R012_F,SAMD14,Silent,NM_001257359,exon3,c.C201T,p.P67P,SNP,SNVindel,exonic,SAMD14,NA,synonymous SNV,"SAMD14:NM_001257359:exon3:c.C201T:p.P67P,SAMD14:NM_174920:exon3:c.C201T:p.P67P",NA,NA,NA,NA,NA,NA
chr17,67261022,67261022,G,T,R012_F,ABCA5,Missense_Mutation,NM_018672,exon23,c.C3169A,p.L1057I,SNP,SNVindel,exonic,ABCA5,NA,nonsynonymous SNV,"ABCA5:NM_018672:exon23:c.C3169A:p.L1057I,ABCA5:NM_172232:exon24:c.C3169A:p.L1057I",T,N,D,T,N,T
chr17,76400072,76400072,T,G,R012_F,PGS1,Missense_Mutation,NM_024419,exon7,c.T1304G,p.I435S,SNP,SNVindel,exonic,PGS1,NA,nonsynonymous SNV,PGS1:NM_024419:exon7:c.T1304G:p.I435S,D,N,D,D,D,D
chr18,44627259,44627259,C,A,R012_F,KATNAL2,Silent,NM_001353904,exon14,c.C1068A,p.I356I,SNP,SNVindel,exonic,KATNAL2,NA,synonymous SNV,"KATNAL2:NM_001353904:exon14:c.C1068A:p.I356I,KATNAL2:NM_001353903:exon15:c.C1167A:p.I389I,KATNAL2:NM_031303:exon15:c.C1284A:p.I428I,KATNAL2:NM_001367621:exon16:c.C1500A:p.I500I,KATNAL2:NM_001353899:exon18:c.C1578A:p.I526I,KATNAL2:NM_001353900:exon18:c.C1575A:p.I525I",NA,NA,NA,NA,NA,NA
chr19,8966767,8966767,A,C,R012_F,MUC16,Missense_Mutation,NM_024690,exon81,c.T43186G,p.S14396A,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon81:c.T43186G:p.S14396A,T,N,N,T,N,T
chr19,30934918,30934918,G,A,R012_F,ZNF536,Missense_Mutation,NM_001352260,exon2,c.G449A,p.R150H,SNP,SNVindel,exonic,ZNF536,NA,nonsynonymous SNV,"ZNF536:NM_001352260:exon2:c.G449A:p.R150H,ZNF536:NM_014717:exon2:c.G449A:p.R150H",D,D,D,T,D,T
chr19,48789746,48789746,C,T,R012_F,ZNF114,Missense_Mutation,NM_001331097,exon6,c.C865T,p.P289S,SNP,SNVindel,exonic,ZNF114,NA,nonsynonymous SNV,"ZNF114:NM_001331097:exon6:c.C865T:p.P289S,ZNF114:NM_001331098:exon6:c.C1003T:p.P335S,ZNF114:NM_001369811:exon6:c.C865T:p.P289S,ZNF114:NM_001369812:exon6:c.C865T:p.P289S,ZNF114:NM_153608:exon6:c.C865T:p.P289S",T,.,N,T,N,T
chr20,10604007,10604007,A,G,R012_F,SLX4IP,Missense_Mutation,NM_001009608,exon8,c.A1207G,p.K403E,SNP,SNVindel,exonic,SLX4IP,NA,nonsynonymous SNV,SLX4IP:NM_001009608:exon8:c.A1207G:p.K403E,D,N,N,T,N,T
chr20,16347916,16347916,C,T,R012_F,KIF16B,Missense_Mutation,NM_001199866,exon23,c.G4054A,p.V1352I,SNP,SNVindel,exonic,KIF16B,NA,nonsynonymous SNV,KIF16B:NM_001199866:exon23:c.G4054A:p.V1352I,D,N,N,T,N,T
chr20,42969923,42969923,G,A,R012_F,R3HDML,Missense_Mutation,NM_178491,exon2,c.G349A,p.V117M,SNP,SNVindel,exonic,R3HDML,NA,nonsynonymous SNV,R3HDML:NM_178491:exon2:c.G349A:p.V117M,D,N,N,T,N,T
chr20,62194327,62194327,C,T,R012_F,HELZ2,Missense_Mutation,NM_033405,exon3,c.G4141A,p.A1381T,SNP,SNVindel,exonic,HELZ2,NA,nonsynonymous SNV,"HELZ2:NM_033405:exon3:c.G4141A:p.A1381T,HELZ2:NM_001037335:exon9:c.G5848A:p.A1950T",D,N,D,T,N,T
chr22,28395243,28395243,G,C,R012_F,TTC28,Missense_Mutation,NM_001145418,exon16,c.C4404G,p.H1468Q,SNP,SNVindel,exonic,TTC28,NA,nonsynonymous SNV,TTC28:NM_001145418:exon16:c.C4404G:p.H1468Q,T,N,D,D,N,T
chr22,50857846,50857846,G,T,R012_F,PPP6R2,Missense_Mutation,NM_001242898,exon8,c.G800T,p.S267I,SNP,SNVindel,exonic,PPP6R2,NA,nonsynonymous SNV,"PPP6R2:NM_001242898:exon8:c.G800T:p.S267I,PPP6R2:NM_001242899:exon8:c.G803T:p.S268I,PPP6R2:NM_001242900:exon8:c.G800T:p.S267I,PPP6R2:NM_001351641:exon8:c.G803T:p.S268I,PPP6R2:NM_001351642:exon8:c.G800T:p.S267I,PPP6R2:NM_001351644:exon8:c.G800T:p.S267I,PPP6R2:NM_001351646:exon8:c.G800T:p.S267I,PPP6R2:NM_001351647:exon8:c.G314T:p.S105I,PPP6R2:NM_001351648:exon8:c.G314T:p.S105I,PPP6R2:NM_014678:exon8:c.G800T:p.S267I,PPP6R2:NM_001351643:exon9:c.G800T:p.S267I,PPP6R2:NM_001351645:exon9:c.G800T:p.S267I,PPP6R2:NM_001365836:exon10:c.G800T:p.S267I",D,D,N,T,D,T
chrX,37587011,37587011,A,G,R012_F,XK,Missense_Mutation,NM_021083,exon3,c.A631G,p.I211V,SNP,SNVindel,exonic,XK,NA,nonsynonymous SNV,XK:NM_021083:exon3:c.A631G:p.I211V,T,D,D,T,N,T
chrX,102864442,102864442,A,G,R012_F,TCEAL3,Silent,NM_001006933,exon3,c.A450G,p.Q150Q,SNP,SNVindel,exonic,TCEAL3,NA,synonymous SNV,"TCEAL3:NM_001006933:exon3:c.A450G:p.Q150Q,TCEAL3:NM_032926:exon3:c.A450G:p.Q150Q",NA,NA,NA,NA,NA,NA
chr1,16382213,16382213,C,T,R012_S,CLCNKB,Missense_Mutation,NM_001165945,exon11,c.C1379T,p.P460L,SNP,SNVindel,exonic,CLCNKB,NA,nonsynonymous SNV,"CLCNKB:NM_001165945:exon11:c.C1379T:p.P460L,CLCNKB:NM_000085:exon18:c.C1889T:p.P630L",D,N,D,D,D,D
chr1,79412073,79412073,C,T,R012_S,ADGRL4,Missense_Mutation,NM_022159,exon3,c.G211A,p.E71K,SNP,SNVindel,exonic,ADGRL4,NA,nonsynonymous SNV,ADGRL4:NM_022159:exon3:c.G211A:p.E71K,D,N,D,D,N,T
chr1,152128812,152128812,G,T,R012_S,RPTN,Missense_Mutation,NM_001122965,exon3,c.C763A,p.Q255K,SNP,SNVindel,exonic,RPTN,NA,nonsynonymous SNV,RPTN:NM_001122965:exon3:c.C763A:p.Q255K,T,.,N,T,N,T
chr1,204978804,204978804,G,A,R012_S,NFASC,Missense_Mutation,NM_001365986,exon23,c.G2875A,p.G959S,SNP,SNVindel,exonic,NFASC,NA,nonsynonymous SNV,"NFASC:NM_001365986:exon23:c.G2875A:p.G959S,NFASC:NM_001160331:exon25:c.G3256A:p.G1086S,NFASC:NM_015090:exon25:c.G3196A:p.G1066S,NFASC:NM_001160332:exon26:c.G3211A:p.G1071S,NFASC:NM_001005388:exon28:c.G3409A:p.G1137S",D,D,D,D,D,D
chr1,236732307,236732307,C,T,R012_S,HEATR1,Missense_Mutation,NM_018072,exon29,c.G4066A,p.A1356T,SNP,SNVindel,exonic,HEATR1,NA,nonsynonymous SNV,HEATR1:NM_018072:exon29:c.G4066A:p.A1356T,D,D,D,T,N,T
chr1,247752208,247752208,G,C,R012_S,OR2G2,Missense_Mutation,NM_001001915,exon1,c.G547C,p.E183Q,SNP,SNVindel,exonic,OR2G2,NA,nonsynonymous SNV,OR2G2:NM_001001915:exon1:c.G547C:p.E183Q,D,U,N,T,D,T
chr2,33811629,33811629,C,T,R012_S,FAM98A,Silent,NM_001304538,exon5,c.G135A,p.K45K,SNP,SNVindel,exonic,FAM98A,NA,synonymous SNV,"FAM98A:NM_001304538:exon5:c.G135A:p.K45K,FAM98A:NM_015475:exon6:c.G720A:p.K240K",NA,NA,NA,NA,NA,NA
chr2,96690567,96690567,A,G,R012_S,GPAT2,Missense_Mutation,NM_001321529,exon13,c.T1169C,p.M390T,SNP,SNVindel,exonic,GPAT2,NA,nonsynonymous SNV,"GPAT2:NM_001321529:exon13:c.T1169C:p.M390T,GPAT2:NM_001321530:exon13:c.T1169C:p.M390T,GPAT2:NM_001321525:exon14:c.T1382C:p.M461T,GPAT2:NM_001321526:exon14:c.T1382C:p.M461T,GPAT2:NM_001321527:exon14:c.T1382C:p.M461T,GPAT2:NM_001321528:exon14:c.T1382C:p.M461T,GPAT2:NM_207328:exon14:c.T1382C:p.M461T,GPAT2:NM_001321531:exon15:c.T1382C:p.M461T",T,D,D,D,D,D
chr2,112615933,112615933,T,C,R012_S,ANAPC1,Silent,NM_022662,exon11,c.A1308G,p.L436L,SNP,SNVindel,exonic,ANAPC1,NA,synonymous SNV,ANAPC1:NM_022662:exon11:c.A1308G:p.L436L,NA,NA,NA,NA,NA,NA
chr2,135744966,135744966,A,T,R012_S,MAP3K19,Missense_Mutation,NM_001018044,exon5,c.T1137A,p.D379E,SNP,SNVindel,exonic,MAP3K19,NA,nonsynonymous SNV,"MAP3K19:NM_001018044:exon5:c.T1137A:p.D379E,MAP3K19:NM_001321177:exon7:c.T1527A:p.D509E,MAP3K19:NM_025052:exon7:c.T1476A:p.D492E",T,N,N,T,N,T
chr2,137852487,137852487,T,C,R012_S,THSD7B,Missense_Mutation,NM_001316349,exon4,c.T995C,p.I332T,SNP,SNVindel,exonic,THSD7B,NA,nonsynonymous SNV,THSD7B:NM_001316349:exon4:c.T995C:p.I332T,D,N,N,T,D,T
chr2,166243460,166243460,C,T,R012_S,SCN2A,Missense_Mutation,NM_001040142,exon26,c.C4756T,p.R1586C,SNP,SNVindel,exonic,SCN2A,NA,nonsynonymous SNV,"SCN2A:NM_001040142:exon26:c.C4756T:p.R1586C,SCN2A:NM_001371246:exon26:c.C4756T:p.R1586C,SCN2A:NM_001371247:exon26:c.C4756T:p.R1586C,SCN2A:NM_021007:exon26:c.C4756T:p.R1586C,SCN2A:NM_001040143:exon27:c.C4756T:p.R1586C",D,D,D,D,D,D
chr2,168107381,168107381,C,T,R012_S,XIRP2,Missense_Mutation,NM_001199144,exon7,c.C8813T,p.S2938L,SNP,SNVindel,exonic,XIRP2,NA,nonsynonymous SNV,"XIRP2:NM_001199144:exon7:c.C8813T:p.S2938L,XIRP2:NM_152381:exon9:c.C9479T:p.S3160L",T,N,N,T,N,T
chr2,170019067,170019067,C,A,R012_S,LRP2,Missense_Mutation,NM_004525,exon63,c.G11802T,p.K3934N,SNP,SNVindel,exonic,LRP2,NA,nonsynonymous SNV,LRP2:NM_004525:exon63:c.G11802T:p.K3934N,D,D,D,D,D,T
chr2,180047907,180047907,C,A,R012_S,SESTD1,Missense_Mutation,NM_178123,exon3,c.G64T,p.D22Y,SNP,SNVindel,exonic,SESTD1,NA,nonsynonymous SNV,SESTD1:NM_178123:exon3:c.G64T:p.D22Y,D,D,D,T,D,T
chr2,180809953,180809953,C,T,R012_S,CWC22,Missense_Mutation,NM_020943,exon20,c.G2630A,p.R877K,SNP,SNVindel,exonic,CWC22,NA,nonsynonymous SNV,CWC22:NM_020943:exon20:c.G2630A:p.R877K,T,N,D,T,N,T
chr2,209179964,209179964,A,G,R012_S,PIKFYVE,Missense_Mutation,NM_015040,exon15,c.A1874G,p.H625R,SNP,SNVindel,exonic,PIKFYVE,NA,nonsynonymous SNV,PIKFYVE:NM_015040:exon15:c.A1874G:p.H625R,T,D,N,T,N,T
chr2,212251821,212251821,G,A,R012_S,ERBB4,Missense_Mutation,NM_001042599,exon26,c.C3190T,p.P1064S,SNP,SNVindel,exonic,ERBB4,NA,nonsynonymous SNV,"ERBB4:NM_001042599:exon26:c.C3190T:p.P1064S,ERBB4:NM_005235:exon27:c.C3238T:p.P1080S",T,D,D,T,N,T
chr3,97661153,97661153,T,C,R012_S,CRYBG3,Missense_Mutation,NM_153605,exon21,c.T8690C,p.I2897T,SNP,SNVindel,exonic,CRYBG3,NA,nonsynonymous SNV,CRYBG3:NM_153605:exon21:c.T8690C:p.I2897T,.,D,D,.,.,T
chr3,126142422,126142422,C,A,R012_S,CFAP100,Missense_Mutation,NM_182628,exon13,c.C1221A,p.N407K,SNP,SNVindel,exonic,CFAP100,NA,nonsynonymous SNV,CFAP100:NM_182628:exon13:c.C1221A:p.N407K,D,D,D,T,D,T
chr4,5642557,5642557,A,G,R012_S,EVC2,Missense_Mutation,NM_001166136,exon10,c.T914C,p.I305T,SNP,SNVindel,exonic,EVC2,NA,nonsynonymous SNV,"EVC2:NM_001166136:exon10:c.T914C:p.I305T,EVC2:NM_147127:exon10:c.T1154C:p.I385T",D,N,D,T,N,D
chr4,13612625,13612625,T,C,R012_S,BOD1L1,Missense_Mutation,NM_148894,exon6,c.A1424G,p.Y475C,SNP,SNVindel,exonic,BOD1L1,NA,nonsynonymous SNV,BOD1L1:NM_148894:exon6:c.A1424G:p.Y475C,D,N,D,T,D,T
chr5,9190496,9190496,C,A,R012_S,SEMA5A,Missense_Mutation,NM_003966,exon11,c.G1156T,p.V386L,SNP,SNVindel,exonic,SEMA5A,NA,nonsynonymous SNV,SEMA5A:NM_003966:exon11:c.G1156T:p.V386L,D,D,D,T,D,T
chr5,36117902,36117902,C,G,R012_S,LMBRD2,Missense_Mutation,NM_001007527,exon10,c.G1237C,p.V413L,SNP,SNVindel,exonic,LMBRD2,NA,nonsynonymous SNV,LMBRD2:NM_001007527:exon10:c.G1237C:p.V413L,D,D,D,.,N,T
chr5,74034379,74034379,A,T,R012_S,GFM2,Missense_Mutation,NM_032380,exon13,c.T1168A,p.S390T,SNP,SNVindel,exonic,GFM2,NA,nonsynonymous SNV,"GFM2:NM_032380:exon13:c.T1168A:p.S390T,GFM2:NM_170681:exon13:c.T1168A:p.S390T,GFM2:NM_001281302:exon14:c.T1264A:p.S422T",T,D,D,T,N,D
chr5,140811627,140811627,C,T,R012_S,PCDHGA12,Missense_Mutation,NM_003735,exon1,c.C1301T,p.T434M,SNP,SNVindel,exonic,PCDHGA12,NA,nonsynonymous SNV,"PCDHGA12:NM_003735:exon1:c.C1301T:p.T434M,PCDHGA12:NM_032094:exon1:c.C1301T:p.T434M",D,.,N,T,D,T
chr5,169028413,169028413,A,G,R012_S,SPDL1,Missense_Mutation,NM_001329639,exon11,c.A1454G,p.E485G,SNP,SNVindel,exonic,SPDL1,NA,nonsynonymous SNV,"SPDL1:NM_001329639:exon11:c.A1454G:p.E485G,SPDL1:NM_001329640:exon11:c.A1454G:p.E485G,SPDL1:NM_001329641:exon11:c.A1454G:p.E485G,SPDL1:NM_017785:exon11:c.A1454G:p.E485G,SPDL1:NM_001329642:exon12:c.A1241G:p.E414G,SPDL1:NM_001329643:exon12:c.A1241G:p.E414G",D,N,N,T,D,T
chr6,7231880,7231880,A,T,R012_S,RREB1,Missense_Mutation,NM_001003698,exon10,c.A3548T,p.K1183M,SNP,SNVindel,exonic,RREB1,NA,nonsynonymous SNV,"RREB1:NM_001003698:exon10:c.A3548T:p.K1183M,RREB1:NM_001003699:exon10:c.A3548T:p.K1183M,RREB1:NM_001003700:exon10:c.A3548T:p.K1183M,RREB1:NM_001168344:exon10:c.A3548T:p.K1183M",D,D,D,T,D,T
chr6,44198147,44198147,C,T,R012_S,SLC29A1,Missense_Mutation,NM_001304463,exon6,c.C644T,p.T215M,SNP,SNVindel,exonic,SLC29A1,NA,nonsynonymous SNV,"SLC29A1:NM_001304463:exon6:c.C644T:p.T215M,SLC29A1:NM_001304465:exon6:c.C596T:p.T199M,SLC29A1:NM_001304466:exon6:c.C593T:p.T198M,SLC29A1:NM_001078175:exon7:c.C518T:p.T173M,SLC29A1:NM_001078177:exon7:c.C518T:p.T173M,SLC29A1:NM_001304462:exon7:c.C755T:p.T252M",D,D,D,T,D,T
chr6,127796760,127796760,G,C,R012_S,SOGA3,Missense_Mutation,NM_001012279,exon6,c.C2411G,p.P804R,SNP,SNVindel,exonic,SOGA3,NA,nonsynonymous SNV,SOGA3:NM_001012279:exon6:c.C2411G:p.P804R,T,N,D,T,N,T
chr7,4281500,4281500,G,A,R012_S,SDK1,Missense_Mutation,NM_001079653,exon17,c.G1667A,p.R556H,SNP,SNVindel,exonic,SDK1,NA,nonsynonymous SNV,"SDK1:NM_001079653:exon17:c.G1667A:p.R556H,SDK1:NM_152744:exon43:c.G6206A:p.R2069H",D,D,D,T,D,T
chr7,11486868,11486868,C,G,R012_S,THSD7A,Missense_Mutation,NM_015204,exon12,c.G2789C,p.R930P,SNP,SNVindel,exonic,THSD7A,NA,nonsynonymous SNV,THSD7A:NM_015204:exon12:c.G2789C:p.R930P,D,D,D,T,D,T
chr7,32909377,32909377,G,A,R012_S,KBTBD2,Silent,NM_015483,exon4,c.C1452T,p.G484G,SNP,SNVindel,exonic,KBTBD2,NA,synonymous SNV,KBTBD2:NM_015483:exon4:c.C1452T:p.G484G,NA,NA,NA,NA,NA,NA
chr7,66482937,66482937,G,C,R012_S,TYW1,Missense_Mutation,NM_018264,exon6,c.G668C,p.G223A,SNP,SNVindel,exonic,TYW1,NA,nonsynonymous SNV,TYW1:NM_018264:exon6:c.G668C:p.G223A,D,U,D,T,D,T
chr7,126173463,126173463,C,G,R012_S,GRM8,Missense_Mutation,NM_001371087,exon8,c.G1358C,p.G453A,SNP,SNVindel,exonic,GRM8,NA,nonsynonymous SNV,"GRM8:NM_001371087:exon8:c.G1358C:p.G453A,GRM8:NM_000845:exon9:c.G1973C:p.G658A,GRM8:NM_001127323:exon9:c.G1973C:p.G658A,GRM8:NM_001371084:exon9:c.G1973C:p.G658A,GRM8:NM_001371085:exon9:c.G1973C:p.G658A,GRM8:NM_001371086:exon9:c.G1973C:p.G658A,GRM8:NM_001371083:exon10:c.G1973C:p.G658A",T,D,D,D,D,D
chr7,138968645,138968645,C,T,R012_S,UBN2,Silent,NM_173569,exon15,c.C2994T,p.P998P,SNP,SNVindel,exonic,UBN2,NA,synonymous SNV,UBN2:NM_173569:exon15:c.C2994T:p.P998P,NA,NA,NA,NA,NA,NA
chr8,2041808,2041808,A,C,R012_S,MYOM2,Missense_Mutation,NM_003970,exon17,c.A2015C,p.H672P,SNP,SNVindel,exonic,MYOM2,NA,nonsynonymous SNV,MYOM2:NM_003970:exon17:c.A2015C:p.H672P,T,D,D,T,D,T
chr8,19811653,19811653,C,T,R012_S,LPL,Silent,NM_000237,exon5,c.C564T,p.N188N,SNP,SNVindel,exonic,LPL,NA,synonymous SNV,LPL:NM_000237:exon5:c.C564T:p.N188N,NA,NA,NA,NA,NA,NA
chr8,101164087,101164087,C,A,R012_S,POLR2K,Missense_Mutation,NM_005034,exon3,c.C97A,p.P33T,SNP,SNVindel,exonic,POLR2K,NA,nonsynonymous SNV,POLR2K:NM_005034:exon3:c.C97A:p.P33T,T,N,D,.,D,T
chr8,110465042,110465042,A,C,R012_S,PKHD1L1,Silent,NM_177531,exon43,c.A6603C,p.T2201T,SNP,SNVindel,exonic,PKHD1L1,NA,synonymous SNV,PKHD1L1:NM_177531:exon43:c.A6603C:p.T2201T,NA,NA,NA,NA,NA,NA
chr9,27949220,27949220,T,C,R012_S,LINGO2,Missense_Mutation,NM_001354574,exon6,c.A1450G,p.I484V,SNP,SNVindel,exonic,LINGO2,NA,nonsynonymous SNV,"LINGO2:NM_001354574:exon6:c.A1450G:p.I484V,LINGO2:NM_001258282:exon7:c.A1450G:p.I484V,LINGO2:NM_001354575:exon7:c.A1450G:p.I484V,LINGO2:NM_152570:exon7:c.A1450G:p.I484V",T,D,D,T,N,T
chr9,93636554,93636554,A,T,R012_S,SYK,Silent,NM_001135052,exon7,c.A915T,p.A305A,SNP,SNVindel,exonic,SYK,NA,synonymous SNV,"SYK:NM_001135052:exon7:c.A915T:p.A305A,SYK:NM_001174168:exon7:c.A915T:p.A305A,SYK:NM_001174167:exon8:c.A984T:p.A328A,SYK:NM_003177:exon8:c.A984T:p.A328A",NA,NA,NA,NA,NA,NA
chr9,93636555,93636555,C,T,R012_S,SYK,Missense_Mutation,NM_001135052,exon7,c.C916T,p.P306S,SNP,SNVindel,exonic,SYK,NA,nonsynonymous SNV,"SYK:NM_001135052:exon7:c.C916T:p.P306S,SYK:NM_001174168:exon7:c.C916T:p.P306S,SYK:NM_001174167:exon8:c.C985T:p.P329S,SYK:NM_003177:exon8:c.C985T:p.P329S",T,N,N,T,N,T
chr9,117104333,117104333,A,G,R012_S,AKNA,Missense_Mutation,NM_001317952,exon19,c.T3473C,p.V1158A,SNP,SNVindel,exonic,AKNA,NA,nonsynonymous SNV,"AKNA:NM_001317952:exon19:c.T3473C:p.V1158A,AKNA:NM_001317950:exon20:c.T3830C:p.V1277A,AKNA:NM_030767:exon20:c.T3830C:p.V1277A",T,N,N,T,N,T
chr10,61819693,61819693,G,C,R012_S,ANK3,Missense_Mutation,NM_001149,exon17,c.C2230G,p.Q744E,SNP,SNVindel,exonic,ANK3,NA,nonsynonymous SNV,"ANK3:NM_001149:exon17:c.C2230G:p.Q744E,ANK3:NM_001320874:exon39:c.C4828G:p.Q1610E,ANK3:NM_001204403:exon40:c.C4810G:p.Q1604E,ANK3:NM_001204404:exon40:c.C4831G:p.Q1611E",T,.,D,T,N,T
chr10,89711894,89711894,A,G,R012_S,PTEN,Missense_Mutation,NM_000314,exon6,c.A512G,p.Q171R,SNP,SNVindel,exonic,PTEN,NA,nonsynonymous SNV,"PTEN:NM_000314:exon6:c.A512G:p.Q171R,PTEN:NM_001304717:exon7:c.A1031G:p.Q344R",D,D,D,D,D,D
chr11,14865530,14865530,A,T,R012_S,PDE3B,Silent,NM_000922,exon12,c.A2478T,p.P826P,SNP,SNVindel,exonic,PDE3B,NA,synonymous SNV,"PDE3B:NM_000922:exon12:c.A2478T:p.P826P,PDE3B:NM_001363569:exon12:c.A2325T:p.P775P,PDE3B:NM_001363570:exon13:c.A2712T:p.P904P",NA,NA,NA,NA,NA,NA
chr11,56043279,56043279,A,C,R012_S,OR5T1,Missense_Mutation,NM_001004745,exon1,c.A165C,p.L55F,SNP,SNVindel,exonic,OR5T1,NA,nonsynonymous SNV,OR5T1:NM_001004745:exon1:c.A165C:p.L55F,D,N,N,T,D,T
chr11,70544854,70544854,G,A,R012_S,SHANK2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SHANK2,NA,unknown,UNKNOWN,D,U,D,T,D,T
chr11,101353843,101353843,G,A,R012_S,TRPC6,Silent,NM_004621,exon5,c.C1347T,p.S449S,SNP,SNVindel,exonic,TRPC6,NA,synonymous SNV,TRPC6:NM_004621:exon5:c.C1347T:p.S449S,NA,NA,NA,NA,NA,NA
chr11,113235716,113235716,C,T,R012_S,TTC12,Missense_Mutation,NM_001352037,exon20,c.C1901T,p.T634I,SNP,SNVindel,exonic,TTC12,NA,nonsynonymous SNV,"TTC12:NM_001352037:exon20:c.C1901T:p.T634I,TTC12:NM_001318533:exon21:c.C1994T:p.T665I,TTC12:NM_017868:exon21:c.C1976T:p.T659I,TTC12:NM_001352038:exon23:c.C1526T:p.T509I",D,N,N,T,N,T
chr12,56531344,56531344,G,A,R012_S,ESYT1,Missense_Mutation,NM_001184796,exon18,c.G2030A,p.G677E,SNP,SNVindel,exonic,ESYT1,NA,nonsynonymous SNV,"ESYT1:NM_001184796:exon18:c.G2030A:p.G677E,ESYT1:NM_015292:exon18:c.G2000A:p.G667E",D,D,D,T,D,T
chr12,57865279,57865279,C,T,R012_S,GLI1,Missense_Mutation,NM_001160045,exon10,c.C2372T,p.P791L,SNP,SNVindel,exonic,GLI1,NA,nonsynonymous SNV,"GLI1:NM_001160045:exon10:c.C2372T:p.P791L,GLI1:NM_001167609:exon11:c.C2633T:p.P878L,GLI1:NM_005269:exon12:c.C2756T:p.P919L",D,N,N,T,N,T
chr12,86199037,86199037,A,G,R012_S,RASSF9,Missense_Mutation,NM_005447,exon2,c.T751C,p.Y251H,SNP,SNVindel,exonic,RASSF9,NA,nonsynonymous SNV,RASSF9:NM_005447:exon2:c.T751C:p.Y251H,T,U,N,T,N,T
chr12,88530523,88530523,A,G,R012_S,CEP290,Missense_Mutation,NM_025114,exon6,c.T338C,p.L113S,SNP,SNVindel,exonic,CEP290,NA,nonsynonymous SNV,CEP290:NM_025114:exon6:c.T338C:p.L113S,D,D,D,T,N,D
chr12,123342746,123342746,C,T,R012_S,HIP1R,Missense_Mutation,NM_003959,exon19,c.C1913T,p.A638V,SNP,SNVindel,exonic,HIP1R,NA,nonsynonymous SNV,HIP1R:NM_003959:exon19:c.C1913T:p.A638V,D,D,D,T,D,T
chr12,132400447,132400447,C,T,R012_S,ULK1,Missense_Mutation,NM_003565,exon19,c.C1621T,p.P541S,SNP,SNVindel,exonic,ULK1,NA,nonsynonymous SNV,ULK1:NM_003565:exon19:c.C1621T:p.P541S,D,D,D,T,N,T
chr13,32835844,32835844,A,C,R012_S,FRY,Missense_Mutation,NM_023037,exon52,c.A7508C,p.Q2503P,SNP,SNVindel,exonic,FRY,NA,nonsynonymous SNV,FRY:NM_023037:exon52:c.A7508C:p.Q2503P,.,N,D,.,.,T
chr13,36049877,36049877,C,T,R012_S,MAB21L1,Silent,NM_005584,exon1,c.G399A,p.Q133Q,SNP,SNVindel,exonic,MAB21L1,NA,synonymous SNV,MAB21L1:NM_005584:exon1:c.G399A:p.Q133Q,NA,NA,NA,NA,NA,NA
chr13,45523879,45523879,T,C,R012_S,NUFIP1,Silent,NM_012345,exon8,c.A1116G,p.S372S,SNP,SNVindel,exonic,NUFIP1,NA,synonymous SNV,NUFIP1:NM_012345:exon8:c.A1116G:p.S372S,NA,NA,NA,NA,NA,NA
chr13,77531614,77531614,C,A,R012_S,ACOD1,Missense_Mutation,NM_001258406,exon5,c.C940A,p.P314T,SNP,SNVindel,exonic,ACOD1,NA,nonsynonymous SNV,ACOD1:NM_001258406:exon5:c.C940A:p.P314T,D,D,D,.,D,T
chr13,108862948,108862948,T,G,R012_S,LIG4,Missense_Mutation,NM_001098268,exon2,c.A669C,p.K223N,SNP,SNVindel,exonic,LIG4,NA,nonsynonymous SNV,"LIG4:NM_001098268:exon2:c.A669C:p.K223N,LIG4:NM_002312:exon2:c.A669C:p.K223N,LIG4:NM_001330595:exon3:c.A468C:p.K156N,LIG4:NM_001352601:exon3:c.A669C:p.K223N,LIG4:NM_001352602:exon3:c.A669C:p.K223N,LIG4:NM_001352603:exon3:c.A669C:p.K223N,LIG4:NM_001352604:exon3:c.A705C:p.K235N,LIG4:NM_206937:exon3:c.A669C:p.K223N,LIG4:NM_001352598:exon4:c.A669C:p.K223N,LIG4:NM_001352599:exon4:c.A669C:p.K223N,LIG4:NM_001352600:exon4:c.A669C:p.K223N",D,D,D,D,D,T
chr14,35240782,35240782,T,G,R012_S,BAZ1A,Missense_Mutation,NM_182648,exon20,c.A3140C,p.Y1047S,SNP,SNVindel,exonic,BAZ1A,NA,nonsynonymous SNV,"BAZ1A:NM_182648:exon20:c.A3140C:p.Y1047S,BAZ1A:NM_013448:exon21:c.A3236C:p.Y1079S",T,N,N,T,N,T
chr15,41106223,41106223,G,A,R012_S,ZFYVE19,Missense_Mutation,NM_001258420,exon9,c.G1088A,p.R363H,SNP,SNVindel,exonic,ZFYVE19,NA,nonsynonymous SNV,"ZFYVE19:NM_001258420:exon9:c.G1088A:p.R363H,ZFYVE19:NM_001077268:exon10:c.G1292A:p.R431H,ZFYVE19:NM_001258421:exon10:c.G767A:p.R256H,ZFYVE19:NM_032850:exon11:c.G1262A:p.R421H",D,N,D,T,D,T
chr15,45392256,45392256,C,T,R012_S,DUOX2,Missense_Mutation,NM_001363711,exon24,c.G3176A,p.R1059H,SNP,SNVindel,exonic,DUOX2,NA,nonsynonymous SNV,"DUOX2:NM_001363711:exon24:c.G3176A:p.R1059H,DUOX2:NM_014080:exon24:c.G3176A:p.R1059H",D,D,D,D,D,T
chr15,64472573,64472573,G,A,R012_S,CSNK1G1,Silent,NM_001329606,exon11,c.C1188T,p.A396A,SNP,SNVindel,exonic,CSNK1G1,NA,synonymous SNV,"CSNK1G1:NM_001329606:exon11:c.C1188T:p.A396A,CSNK1G1:NM_001329607:exon11:c.C1188T:p.A396A,CSNK1G1:NM_022048:exon11:c.C1188T:p.A396A,CSNK1G1:NM_001329605:exon12:c.C1299T:p.A433A",NA,NA,NA,NA,NA,NA
chr15,102358493,102358493,A,T,R012_S,OR4F15,Missense_Mutation,NM_001001674,exon1,c.A104T,p.Y35F,SNP,SNVindel,exonic,OR4F15,NA,nonsynonymous SNV,OR4F15:NM_001001674:exon1:c.A104T:p.Y35F,D,N,N,T,D,T
chr16,10631922,10631922,G,A,R012_S,EMP2,Missense_Mutation,NM_001424,exon4,c.C179T,p.T60M,SNP,SNVindel,exonic,EMP2,NA,nonsynonymous SNV,EMP2:NM_001424:exon4:c.C179T:p.T60M,T,N,N,D,N,T
chr16,31422131,31422131,G,A,R012_S,ITGAD,Missense_Mutation,NM_001318185,exon12,c.G1288A,p.G430R,SNP,SNVindel,exonic,ITGAD,NA,nonsynonymous SNV,"ITGAD:NM_001318185:exon12:c.G1288A:p.G430R,ITGAD:NM_005353:exon12:c.G1288A:p.G430R",D,.,D,T,D,D
chr16,47531357,47531357,A,G,R012_S,PHKB,Missense_Mutation,NM_000293,exon2,c.A124G,p.N42D,SNP,SNVindel,exonic,PHKB,NA,nonsynonymous SNV,"PHKB:NM_000293:exon2:c.A124G:p.N42D,PHKB:NM_001363837:exon2:c.A124G:p.N42D,PHKB:NM_001031835:exon3:c.A103G:p.N35D",T,N,N,D,N,T
chr17,5037195,5037195,G,A,R012_S,USP6,Missense_Mutation,NM_004505,exon7,c.G398A,p.R133K,SNP,SNVindel,exonic,USP6,NA,nonsynonymous SNV,"USP6:NM_004505:exon7:c.G398A:p.R133K,USP6:NM_001304284:exon15:c.G398A:p.R133K",T,N,D,T,N,T
chr17,5485193,5485193,C,G,R012_S,NLRP1,Missense_Mutation,NM_001033053,exon3,c.G638C,p.G213A,SNP,SNVindel,exonic,NLRP1,NA,nonsynonymous SNV,"NLRP1:NM_001033053:exon3:c.G638C:p.G213A,NLRP1:NM_014922:exon3:c.G638C:p.G213A,NLRP1:NM_033004:exon3:c.G638C:p.G213A,NLRP1:NM_033006:exon3:c.G638C:p.G213A,NLRP1:NM_033007:exon3:c.G638C:p.G213A",T,.,N,T,N,T
chr17,15234534,15234534,A,G,R012_S,TEKT3,Silent,NM_031898,exon3,c.T369C,p.D123D,SNP,SNVindel,exonic,TEKT3,NA,synonymous SNV,TEKT3:NM_031898:exon3:c.T369C:p.D123D,NA,NA,NA,NA,NA,NA
chr17,48051097,48051097,G,A,R012_S,DLX4,Silent,NM_001934,exon2,c.G297A,p.K99K,SNP,SNVindel,exonic,DLX4,NA,synonymous SNV,"DLX4:NM_001934:exon2:c.G297A:p.K99K,DLX4:NM_138281:exon3:c.G513A:p.K171K",NA,NA,NA,NA,NA,NA
chr17,48195534,48195534,G,A,R012_S,SAMD14,Silent,NM_001257359,exon3,c.C201T,p.P67P,SNP,SNVindel,exonic,SAMD14,NA,synonymous SNV,"SAMD14:NM_001257359:exon3:c.C201T:p.P67P,SAMD14:NM_174920:exon3:c.C201T:p.P67P",NA,NA,NA,NA,NA,NA
chr17,67261022,67261022,G,T,R012_S,ABCA5,Missense_Mutation,NM_018672,exon23,c.C3169A,p.L1057I,SNP,SNVindel,exonic,ABCA5,NA,nonsynonymous SNV,"ABCA5:NM_018672:exon23:c.C3169A:p.L1057I,ABCA5:NM_172232:exon24:c.C3169A:p.L1057I",T,N,D,T,N,T
chr18,44118262,44118262,A,T,R012_S,LOXHD1,Missense_Mutation,NM_001308013,exon6,c.T331A,p.F111I,SNP,SNVindel,exonic,LOXHD1,NA,nonsynonymous SNV,"LOXHD1:NM_001308013:exon6:c.T331A:p.F111I,LOXHD1:NM_001145472:exon8:c.T619A:p.F207I,LOXHD1:NM_144612:exon26:c.T3952A:p.F1318I",T,D,D,T,D,T
chr18,44121888,44121888,C,A,R012_S,LOXHD1,Missense_Mutation,NM_001308013,exon5,c.G143T,p.W48L,SNP,SNVindel,exonic,LOXHD1,NA,nonsynonymous SNV,"LOXHD1:NM_001308013:exon5:c.G143T:p.W48L,LOXHD1:NM_001145472:exon7:c.G431T:p.W144L,LOXHD1:NM_144612:exon25:c.G3764T:p.W1255L",D,D,D,D,D,D
chr18,44627259,44627259,C,A,R012_S,KATNAL2,Silent,NM_001353904,exon14,c.C1068A,p.I356I,SNP,SNVindel,exonic,KATNAL2,NA,synonymous SNV,"KATNAL2:NM_001353904:exon14:c.C1068A:p.I356I,KATNAL2:NM_001353903:exon15:c.C1167A:p.I389I,KATNAL2:NM_031303:exon15:c.C1284A:p.I428I,KATNAL2:NM_001367621:exon16:c.C1500A:p.I500I,KATNAL2:NM_001353899:exon18:c.C1578A:p.I526I,KATNAL2:NM_001353900:exon18:c.C1575A:p.I525I",NA,NA,NA,NA,NA,NA
chr19,8966767,8966767,A,C,R012_S,MUC16,Missense_Mutation,NM_024690,exon81,c.T43186G,p.S14396A,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon81:c.T43186G:p.S14396A,T,N,N,T,N,T
chr19,12016503,12016503,C,T,R012_S,ZNF69,Missense_Mutation,NM_001364730,exon4,c.C1291T,p.L431F,SNP,SNVindel,exonic,ZNF69,NA,nonsynonymous SNV,"ZNF69:NM_001364730:exon4:c.C1291T:p.L431F,ZNF69:NM_001364731:exon4:c.C1249T:p.L417F",T,.,N,T,N,T
chr19,38954139,38954139,G,A,R012_S,RYR1,Missense_Mutation,NM_000540,exon21,c.G2654A,p.R885H,SNP,SNVindel,exonic,RYR1,NA,nonsynonymous SNV,"RYR1:NM_000540:exon21:c.G2654A:p.R885H,RYR1:NM_001042723:exon21:c.G2654A:p.R885H",D,U,D,D,D,D
chr19,48789746,48789746,C,T,R012_S,ZNF114,Missense_Mutation,NM_001331097,exon6,c.C865T,p.P289S,SNP,SNVindel,exonic,ZNF114,NA,nonsynonymous SNV,"ZNF114:NM_001331097:exon6:c.C865T:p.P289S,ZNF114:NM_001331098:exon6:c.C1003T:p.P335S,ZNF114:NM_001369811:exon6:c.C865T:p.P289S,ZNF114:NM_001369812:exon6:c.C865T:p.P289S,ZNF114:NM_153608:exon6:c.C865T:p.P289S",T,.,N,T,N,T
chr19,49376572,49376572,C,G,R012_S,PPP1R15A,Missense_Mutation,NM_014330,exon2,c.C82G,p.L28V,SNP,SNVindel,exonic,PPP1R15A,NA,nonsynonymous SNV,PPP1R15A:NM_014330:exon2:c.C82G:p.L28V,D,N,N,T,N,T
chr20,10604007,10604007,A,G,R012_S,SLX4IP,Missense_Mutation,NM_001009608,exon8,c.A1207G,p.K403E,SNP,SNVindel,exonic,SLX4IP,NA,nonsynonymous SNV,SLX4IP:NM_001009608:exon8:c.A1207G:p.K403E,D,N,N,T,N,T
chr20,16347916,16347916,C,T,R012_S,KIF16B,Missense_Mutation,NM_001199866,exon23,c.G4054A,p.V1352I,SNP,SNVindel,exonic,KIF16B,NA,nonsynonymous SNV,KIF16B:NM_001199866:exon23:c.G4054A:p.V1352I,D,N,N,T,N,T
chr20,42969923,42969923,G,A,R012_S,R3HDML,Missense_Mutation,NM_178491,exon2,c.G349A,p.V117M,SNP,SNVindel,exonic,R3HDML,NA,nonsynonymous SNV,R3HDML:NM_178491:exon2:c.G349A:p.V117M,D,N,N,T,N,T
chr20,62194327,62194327,C,T,R012_S,HELZ2,Missense_Mutation,NM_033405,exon3,c.G4141A,p.A1381T,SNP,SNVindel,exonic,HELZ2,NA,nonsynonymous SNV,"HELZ2:NM_033405:exon3:c.G4141A:p.A1381T,HELZ2:NM_001037335:exon9:c.G5848A:p.A1950T",D,N,D,T,N,T
chr21,44270221,44270221,G,A,R012_S,WDR4,Missense_Mutation,NM_001260474,exon11,c.C1174T,p.P392S,SNP,SNVindel,exonic,WDR4,NA,nonsynonymous SNV,"WDR4:NM_001260474:exon11:c.C1174T:p.P392S,WDR4:NM_001260475:exon11:c.C739T:p.P247S,WDR4:NM_001260476:exon11:c.C739T:p.P247S,WDR4:NM_001260477:exon11:c.C739T:p.P247S,WDR4:NM_018669:exon11:c.C1177T:p.P393S,WDR4:NM_033661:exon11:c.C1177T:p.P393S",T,N,N,T,N,T
chr22,28395243,28395243,G,C,R012_S,TTC28,Missense_Mutation,NM_001145418,exon16,c.C4404G,p.H1468Q,SNP,SNVindel,exonic,TTC28,NA,nonsynonymous SNV,TTC28:NM_001145418:exon16:c.C4404G:p.H1468Q,T,N,D,D,N,T
chr22,38503870,38503870,G,C,R012_S,BAIAP2L2,Missense_Mutation,NM_025045,exon4,c.C265G,p.L89V,SNP,SNVindel,exonic,BAIAP2L2,NA,nonsynonymous SNV,BAIAP2L2:NM_025045:exon4:c.C265G:p.L89V,D,N,D,.,N,T
chr22,50857846,50857846,G,T,R012_S,PPP6R2,Missense_Mutation,NM_001242898,exon8,c.G800T,p.S267I,SNP,SNVindel,exonic,PPP6R2,NA,nonsynonymous SNV,"PPP6R2:NM_001242898:exon8:c.G800T:p.S267I,PPP6R2:NM_001242899:exon8:c.G803T:p.S268I,PPP6R2:NM_001242900:exon8:c.G800T:p.S267I,PPP6R2:NM_001351641:exon8:c.G803T:p.S268I,PPP6R2:NM_001351642:exon8:c.G800T:p.S267I,PPP6R2:NM_001351644:exon8:c.G800T:p.S267I,PPP6R2:NM_001351646:exon8:c.G800T:p.S267I,PPP6R2:NM_001351647:exon8:c.G314T:p.S105I,PPP6R2:NM_001351648:exon8:c.G314T:p.S105I,PPP6R2:NM_014678:exon8:c.G800T:p.S267I,PPP6R2:NM_001351643:exon9:c.G800T:p.S267I,PPP6R2:NM_001351645:exon9:c.G800T:p.S267I,PPP6R2:NM_001365836:exon10:c.G800T:p.S267I",D,D,N,T,D,T
chrX,123785848,123785848,A,G,R012_S,TENM1,Missense_Mutation,NM_001163278,exon8,c.T1495C,p.Y499H,SNP,SNVindel,exonic,TENM1,NA,nonsynonymous SNV,"TENM1:NM_001163278:exon8:c.T1495C:p.Y499H,TENM1:NM_001163279:exon8:c.T1492C:p.Y498H,TENM1:NM_014253:exon8:c.T1495C:p.Y499H",D,D,D,T,D,T
chr1,6500428,6500428,G,A,R013_F,ESPN,Silent,NM_001367473,exon3,c.G603A,p.A201A,SNP,SNVindel,exonic,ESPN,NA,synonymous SNV,"ESPN:NM_001367473:exon3:c.G603A:p.A201A,ESPN:NM_001367474:exon3:c.G603A:p.A201A,ESPN:NM_031475:exon3:c.G603A:p.A201A",NA,NA,NA,NA,NA,NA
chr1,48459724,48459724,G,A,R013_F,TRABD2B,Silent,NM_001194986,exon2,c.C648T,p.N216N,SNP,SNVindel,exonic,TRABD2B,NA,synonymous SNV,TRABD2B:NM_001194986:exon2:c.C648T:p.N216N,NA,NA,NA,NA,NA,NA
chr1,93299121,93299121,T,G,R013_F,RPL5,Nonsense_Mutation,NM_000969,exon3,c.T93G,p.Y31X,SNP,SNVindel,exonic,RPL5,NA,stopgain,RPL5:NM_000969:exon3:c.T93G:p.Y31X,.,D,A,.,.,.
chr1,113252895,113252895,G,A,R013_F,PPM1J,Missense_Mutation,NM_005167,exon10,c.C1408T,p.R470W,SNP,SNVindel,exonic,PPM1J,NA,nonsynonymous SNV,PPM1J:NM_005167:exon10:c.C1408T:p.R470W,D,D,D,T,D,T
chr1,115600202,115600202,C,T,R013_F,TSPAN2,Missense_Mutation,NM_001308315,exon5,c.G397A,p.E133K,SNP,SNVindel,exonic,TSPAN2,NA,nonsynonymous SNV,"TSPAN2:NM_001308315:exon5:c.G397A:p.E133K,TSPAN2:NM_001308316:exon6:c.G472A:p.E158K,TSPAN2:NM_005725:exon6:c.G472A:p.E158K",T,.,N,T,N,T
chr1,169390904,169390904,C,A,R013_F,CCDC181,Missense_Mutation,NM_001300969,exon3,c.G765T,p.L255F,SNP,SNVindel,exonic,CCDC181,NA,nonsynonymous SNV,"CCDC181:NM_001300969:exon3:c.G765T:p.L255F,CCDC181:NM_021179:exon3:c.G765T:p.L255F,CCDC181:NM_001300968:exon4:c.G765T:p.L255F",T,N,N,T,N,T
chr1,176759036,176759036,G,C,R013_F,PAPPA2,Missense_Mutation,NM_020318,exon18,c.G4807C,p.E1603Q,SNP,SNVindel,exonic,PAPPA2,NA,nonsynonymous SNV,PAPPA2:NM_020318:exon18:c.G4807C:p.E1603Q,T,D,D,T,N,T
chr1,215848895,215848895,G,A,R013_F,USH2A,Missense_Mutation,NM_206933,exon63,c.C12358T,p.R4120C,SNP,SNVindel,exonic,USH2A,NA,nonsynonymous SNV,USH2A:NM_206933:exon63:c.C12358T:p.R4120C,D,N,D,T,D,T
chr1,235505484,235505484,G,A,R013_F,GGPS1,Silent,NM_001037277,exon4,c.G300A,p.L100L,SNP,SNVindel,exonic,GGPS1,NA,synonymous SNV,GGPS1:NM_001037277:exon4:c.G300A:p.L100L,NA,NA,NA,NA,NA,NA
chr1,237895382,237895382,A,C,R013_F,RYR2,Missense_Mutation,NM_001035,exon78,c.A10972C,p.T3658P,SNP,SNVindel,exonic,RYR2,NA,nonsynonymous SNV,RYR2:NM_001035:exon78:c.A10972C:p.T3658P,T,N,N,D,N,T
chr2,170428397,170428397,T,G,R013_F,FASTKD1,Missense_Mutation,NM_001281476,exon2,c.A143C,p.D48A,SNP,SNVindel,exonic,FASTKD1,NA,nonsynonymous SNV,"FASTKD1:NM_001281476:exon2:c.A143C:p.D48A,FASTKD1:NM_001322046:exon2:c.A143C:p.D48A,FASTKD1:NM_001322048:exon2:c.A143C:p.D48A,FASTKD1:NM_001322049:exon2:c.A143C:p.D48A,FASTKD1:NM_024622:exon2:c.A143C:p.D48A",T,N,N,T,N,T
chr2,179642448,179642448,G,A,R013_F,TTN,Missense_Mutation,NM_003319,exon24,c.C4325T,p.T1442M,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon24:c.C4325T:p.T1442M,TTN:NM_133432:exon24:c.C4325T:p.T1442M,TTN:NM_133437:exon24:c.C4325T:p.T1442M,TTN:NM_001256850:exon25:c.C4463T:p.T1488M,TTN:NM_001267550:exon25:c.C4463T:p.T1488M,TTN:NM_133378:exon25:c.C4463T:p.T1488M,TTN:NM_133379:exon25:c.C4463T:p.T1488M",D,.,D,T,D,T
chr2,237405830,237405830,G,C,R013_F,IQCA1,Missense_Mutation,NM_001270584,exon2,c.C312G,p.I104M,SNP,SNVindel,exonic,IQCA1,NA,nonsynonymous SNV,"IQCA1:NM_001270584:exon2:c.C312G:p.I104M,IQCA1:NM_001270585:exon2:c.C333G:p.I111M,IQCA1:NM_024726:exon2:c.C312G:p.I104M",D,D,N,D,N,T
chr3,97124085,97124085,C,A,R013_F,EPHA6,Silent,NM_001080448,exon6,c.C1698A,p.A566A,SNP,SNVindel,exonic,EPHA6,NA,synonymous SNV,EPHA6:NM_001080448:exon6:c.C1698A:p.A566A,NA,NA,NA,NA,NA,NA
chr3,142539750,142539750,C,T,R013_F,PCOLCE2,Missense_Mutation,NM_013363,exon8,c.G1087A,p.V363I,SNP,SNVindel,exonic,PCOLCE2,NA,nonsynonymous SNV,PCOLCE2:NM_013363:exon8:c.G1087A:p.V363I,T,D,D,T,N,T
chr4,81884695,81884695,A,G,R013_F,CFAP299,Missense_Mutation,NM_152770,exon6,c.A631G,p.R211G,SNP,SNVindel,exonic,CFAP299,NA,nonsynonymous SNV,"CFAP299:NM_152770:exon6:c.A631G:p.R211G,CFAP299:NM_001206997:exon7:c.A682G:p.R228G",D,D,N,T,D,T
chr4,82126062,82126062,C,T,R013_F,PRKG2,Missense_Mutation,NM_001282485,exon2,c.G140A,p.R47Q,SNP,SNVindel,exonic,PRKG2,NA,nonsynonymous SNV,"PRKG2:NM_001282485:exon2:c.G140A:p.R47Q,PRKG2:NM_001363401:exon2:c.G140A:p.R47Q,PRKG2:NM_006259:exon2:c.G140A:p.R47Q",T,D,N,D,N,T
chr4,96051102,96051102,C,T,R013_F,BMPR1B,Silent,NM_001256792,exon7,c.C675T,p.G225G,SNP,SNVindel,exonic,BMPR1B,NA,synonymous SNV,"BMPR1B:NM_001256792:exon7:c.C675T:p.G225G,BMPR1B:NM_001256793:exon7:c.C765T:p.G255G,BMPR1B:NM_001256794:exon7:c.C675T:p.G225G,BMPR1B:NM_001203:exon9:c.C675T:p.G225G",NA,NA,NA,NA,NA,NA
chr4,166960527,166960527,A,G,R013_F,TLL1,Missense_Mutation,NM_012464,exon10,c.A1195G,p.S399G,SNP,SNVindel,exonic,TLL1,NA,nonsynonymous SNV,TLL1:NM_012464:exon10:c.A1195G:p.S399G,D,U,D,T,D,T
chr4,173232894,173232894,G,A,R013_F,GALNTL6,Missense_Mutation,NM_001034845,exon4,c.G377A,p.R126H,SNP,SNVindel,exonic,GALNTL6,NA,nonsynonymous SNV,GALNTL6:NM_001034845:exon4:c.G377A:p.R126H,D,N,D,T,D,D
chr5,158745776,158745776,C,T,R013_F,IL12B,Missense_Mutation,NM_002187,exon6,c.G823A,p.V275I,SNP,SNVindel,exonic,IL12B,NA,nonsynonymous SNV,IL12B:NM_002187:exon6:c.G823A:p.V275I,T,N,N,T,N,T
chr5,169533443,169533443,A,G,R013_F,FOXI1,Missense_Mutation,NM_012188,exon1,c.A482G,p.N161S,SNP,SNVindel,exonic,FOXI1,NA,nonsynonymous SNV,"FOXI1:NM_012188:exon1:c.A482G:p.N161S,FOXI1:NM_144769:exon1:c.A482G:p.N161S",D,D,D,D,N,D
chr6,16146979,16146979,C,T,R013_F,MYLIP,Silent,NM_013262,exon7,c.C1335T,p.I445I,SNP,SNVindel,exonic,MYLIP,NA,synonymous SNV,MYLIP:NM_013262:exon7:c.C1335T:p.I445I,NA,NA,NA,NA,NA,NA
chr6,53010388,53010388,T,A,R013_F,GCM1,Missense_Mutation,NM_003643,exon2,c.A43T,p.S15C,SNP,SNVindel,exonic,GCM1,NA,nonsynonymous SNV,GCM1:NM_003643:exon2:c.A43T:p.S15C,D,N,D,T,N,T
chr6,72011094,72011094,A,G,R013_F,OGFRL1,Missense_Mutation,NM_001324266,exon7,c.A701G,p.Q234R,SNP,SNVindel,exonic,OGFRL1,NA,nonsynonymous SNV,"OGFRL1:NM_001324266:exon7:c.A701G:p.Q234R,OGFRL1:NM_024576:exon7:c.A698G:p.Q233R",T,D,D,T,N,T
chr6,154360917,154360917,G,A,R013_F,OPRM1,Missense_Mutation,NM_000914,exon1,c.G238A,p.V80M,SNP,SNVindel,exonic,OPRM1,NA,nonsynonymous SNV,"OPRM1:NM_000914:exon1:c.G238A:p.V80M,OPRM1:NM_001008503:exon1:c.G238A:p.V80M,OPRM1:NM_001008504:exon1:c.G238A:p.V80M,OPRM1:NM_001008505:exon1:c.G238A:p.V80M,OPRM1:NM_001145282:exon1:c.G238A:p.V80M,OPRM1:NM_001145283:exon1:c.G238A:p.V80M,OPRM1:NM_001145284:exon1:c.G238A:p.V80M,OPRM1:NM_001145285:exon1:c.G238A:p.V80M,OPRM1:NM_001145286:exon1:c.G238A:p.V80M,OPRM1:NM_001285522:exon1:c.G238A:p.V80M,OPRM1:NM_001285523:exon1:c.G238A:p.V80M,OPRM1:NM_001285524:exon2:c.G517A:p.V173M,OPRM1:NM_001145279:exon3:c.G517A:p.V173M",D,D,D,T,D,T
chr7,43591889,43591889,G,A,R013_F,HECW1,Silent,NM_001287059,exon26,c.G4362A,p.A1454A,SNP,SNVindel,exonic,HECW1,NA,synonymous SNV,"HECW1:NM_001287059:exon26:c.G4362A:p.A1454A,HECW1:NM_015052:exon28:c.G4464A:p.A1488A",NA,NA,NA,NA,NA,NA
chr7,48315756,48315756,A,G,R013_F,ABCA13,Missense_Mutation,NM_152701,exon17,c.A6493G,p.I2165V,SNP,SNVindel,exonic,ABCA13,NA,nonsynonymous SNV,ABCA13:NM_152701:exon17:c.A6493G:p.I2165V,T,N,N,T,N,T
chr7,50607697,50607697,G,A,R013_F,DDC,Silent,NM_000790,exon3,c.C231T,p.F77F,SNP,SNVindel,exonic,DDC,NA,synonymous SNV,"DDC:NM_000790:exon3:c.C231T:p.F77F,DDC:NM_001082971:exon3:c.C231T:p.F77F,DDC:NM_001242887:exon3:c.C231T:p.F77F,DDC:NM_001242889:exon3:c.C231T:p.F77F,DDC:NM_001242890:exon3:c.C231T:p.F77F",NA,NA,NA,NA,NA,NA
chr7,70800566,70800566,G,T,R013_F,GALNT17,Missense_Mutation,NM_022479,exon2,c.G269T,p.G90V,SNP,SNVindel,exonic,GALNT17,NA,nonsynonymous SNV,GALNT17:NM_022479:exon2:c.G269T:p.G90V,D,D,D,T,N,T
chr7,102113148,102113148,T,C,R013_F,LRWD1,Missense_Mutation,NM_001317721,exon14,c.T1244C,p.I415T,SNP,SNVindel,exonic,LRWD1,NA,nonsynonymous SNV,"LRWD1:NM_001317721:exon14:c.T1244C:p.I415T,LRWD1:NM_152892:exon14:c.T1700C:p.I567T",T,N,N,T,N,T
chr7,139298033,139298033,G,A,R013_F,HIPK2,Missense_Mutation,NM_001113239,exon9,c.C1946T,p.S649L,SNP,SNVindel,exonic,HIPK2,NA,nonsynonymous SNV,"HIPK2:NM_001113239:exon9:c.C1946T:p.S649L,HIPK2:NM_022740:exon9:c.C2027T:p.S676L",D,.,D,T,D,T
chr8,72959408,72959408,T,G,R013_F,TRPA1,Missense_Mutation,NM_007332,exon16,c.A1940C,p.E647A,SNP,SNVindel,exonic,TRPA1,NA,nonsynonymous SNV,TRPA1:NM_007332:exon16:c.A1940C:p.E647A,T,N,D,T,N,T
chr8,142367540,142367540,G,A,R013_F,GPR20,Missense_Mutation,NM_005293,exon2,c.C484T,p.R162C,SNP,SNVindel,exonic,GPR20,NA,nonsynonymous SNV,GPR20:NM_005293:exon2:c.C484T:p.R162C,D,D,D,T,D,T
chr10,22616950,22616950,A,G,R013_F,BMI1,Missense_Mutation,NM_005180,exon6,c.A388G,p.I130V,SNP,SNVindel,exonic,BMI1;COMMD3-BMI1,NA,nonsynonymous SNV,"BMI1:NM_005180:exon6:c.A388G:p.I130V,COMMD3-BMI1:NM_001204062:exon10:c.A817G:p.I273V",T,D,D,T,N,T
chr10,50531990,50531990,G,A,R013_F,C10orf71,Missense_Mutation,NM_001135196,exon3,c.G1400A,p.R467Q,SNP,SNVindel,exonic,C10orf71,NA,nonsynonymous SNV,C10orf71:NM_001135196:exon3:c.G1400A:p.R467Q,T,N,N,T,N,T
chr10,89692818,89692818,T,C,R013_F,PTEN,Missense_Mutation,NM_000314,exon5,c.T302C,p.I101T,SNP,SNVindel,exonic,PTEN,NA,nonsynonymous SNV,"PTEN:NM_000314:exon5:c.T302C:p.I101T,PTEN:NM_001304717:exon6:c.T821C:p.I274T",D,D,D,D,D,D
chr11,1902704,1902704,C,T,R013_F,LSP1,Silent,NM_001013253,exon3,c.C48T,p.D16D,SNP,SNVindel,exonic,LSP1,NA,synonymous SNV,"LSP1:NM_001013253:exon3:c.C48T:p.D16D,LSP1:NM_001013254:exon3:c.C48T:p.D16D,LSP1:NM_001013255:exon3:c.C48T:p.D16D,LSP1:NM_001289005:exon3:c.C48T:p.D16D,LSP1:NM_002339:exon3:c.C234T:p.D78D,LSP1:NM_001242932:exon4:c.C618T:p.D206D",NA,NA,NA,NA,NA,NA
chr11,6292574,6292574,C,T,R013_F,CCKBR,Missense_Mutation,NM_001318029,exon4,c.C893T,p.S298L,SNP,SNVindel,exonic,CCKBR,NA,nonsynonymous SNV,"CCKBR:NM_001318029:exon4:c.C893T:p.S298L,CCKBR:NM_001363552:exon4:c.C1352T:p.S451L,CCKBR:NM_176875:exon5:c.C1145T:p.S382L",D,D,D,T,D,D
chr12,54911351,54911351,G,A,R013_F,NCKAP1L,Missense_Mutation,NM_001184976,exon12,c.G980A,p.R327H,SNP,SNVindel,exonic,NCKAP1L,NA,nonsynonymous SNV,"NCKAP1L:NM_001184976:exon12:c.G980A:p.R327H,NCKAP1L:NM_005337:exon12:c.G1130A:p.R377H",D,D,D,T,D,T
chr12,97038150,97038150,C,T,R013_F,CFAP54,Missense_Mutation,NM_001306084,exon33,c.C4511T,p.T1504M,SNP,SNVindel,exonic,CFAP54,NA,nonsynonymous SNV,"CFAP54:NM_001306084:exon33:c.C4511T:p.T1504M,CFAP54:NM_001367885:exon33:c.C4511T:p.T1504M",T,.,N,.,N,T
chr12,130647911,130647911,G,A,R013_F,FZD10,Missense_Mutation,NM_007197,exon1,c.G424A,p.D142N,SNP,SNVindel,exonic,FZD10,NA,nonsynonymous SNV,FZD10:NM_007197:exon1:c.G424A:p.D142N,T,U,D,T,D,T
chr14,47351264,47351264,C,T,R013_F,MDGA2,Missense_Mutation,NM_001113498,exon11,c.G2192A,p.R731H,SNP,SNVindel,exonic,MDGA2,NA,nonsynonymous SNV,"MDGA2:NM_001113498:exon11:c.G2192A:p.R731H,MDGA2:NM_182830:exon11:c.G1505A:p.R502H",D,U,D,T,N,T
chr14,60005463,60005463,A,T,R013_F,CCDC175,Missense_Mutation,NM_001164399,exon12,c.T1451A,p.I484N,SNP,SNVindel,exonic,CCDC175,NA,nonsynonymous SNV,CCDC175:NM_001164399:exon12:c.T1451A:p.I484N,D,N,N,T,D,T
chr14,88652476,88652476,C,T,R013_F,KCNK10,Silent,NM_021161,exon7,c.G1020A,p.A340A,SNP,SNVindel,exonic,KCNK10,NA,synonymous SNV,"KCNK10:NM_021161:exon7:c.G1020A:p.A340A,KCNK10:NM_138317:exon7:c.G1035A:p.A345A,KCNK10:NM_138318:exon7:c.G1035A:p.A345A",NA,NA,NA,NA,NA,NA
chr14,103396941,103396941,C,T,R013_F,AMN,Missense_Mutation,NM_030943,exon12,c.C1286T,p.P429L,SNP,SNVindel,exonic,AMN,NA,nonsynonymous SNV,AMN:NM_030943:exon12:c.C1286T:p.P429L,T,U,N,D,N,T
chr14,103602158,103602158,G,A,R013_F,TNFAIP2,Missense_Mutation,NM_001371220,exon13,c.G1969A,p.V657M,SNP,SNVindel,exonic,TNFAIP2,NA,nonsynonymous SNV,"TNFAIP2:NM_001371220:exon13:c.G1969A:p.V657M,TNFAIP2:NM_001371221:exon13:c.G1969A:p.V657M",NA,NA,NA,NA,NA,NA
chr15,32928545,32928545,C,A,R013_F,ARHGAP11A,Missense_Mutation,NM_001286479,exon12,c.C1004A,p.P335H,SNP,SNVindel,exonic,ARHGAP11A,NA,nonsynonymous SNV,"ARHGAP11A:NM_001286479:exon12:c.C1004A:p.P335H,ARHGAP11A:NM_014783:exon12:c.C1571A:p.P524H,ARHGAP11A:NM_001286480:exon13:c.C1004A:p.P335H",D,D,D,T,D,T
chr15,50534828,50534828,G,A,R013_F,HDC,Missense_Mutation,NM_001306146,exon11,c.C1519T,p.L507F,SNP,SNVindel,exonic,HDC,NA,nonsynonymous SNV,"HDC:NM_001306146:exon11:c.C1519T:p.L507F,HDC:NM_002112:exon12:c.C1618T:p.L540F",T,N,N,T,N,T
chr15,94945247,94945247,C,T,R013_F,MCTP2,Missense_Mutation,NM_001159644,exon9,c.C848T,p.A283V,SNP,SNVindel,exonic,MCTP2,NA,nonsynonymous SNV,"MCTP2:NM_001159644:exon9:c.C848T:p.A283V,MCTP2:NM_001159643:exon16:c.C2084T:p.A695V,MCTP2:NM_018349:exon16:c.C2084T:p.A695V",T,N,N,T,N,T
chr16,716038,716038,G,A,R013_F,WDR90,Missense_Mutation,NM_145294,exon36,c.G4523A,p.R1508H,SNP,SNVindel,exonic,WDR90,NA,nonsynonymous SNV,WDR90:NM_145294:exon36:c.G4523A:p.R1508H,D,D,D,T,D,D
chr16,815533,815533,G,A,R013_F,MSLN,Silent,NM_013404,exon9,c.G711A,p.P237P,SNP,SNVindel,exonic,MSLN,NA,synonymous SNV,"MSLN:NM_013404:exon9:c.G711A:p.P237P,MSLN:NM_001177355:exon10:c.G711A:p.P237P,MSLN:NM_005823:exon10:c.G711A:p.P237P",NA,NA,NA,NA,NA,NA
chr16,20838418,20838418,C,T,R013_F,REXO5,Missense_Mutation,NM_001144924,exon9,c.C860T,p.T287M,SNP,SNVindel,exonic,REXO5,NA,nonsynonymous SNV,"REXO5:NM_001144924:exon9:c.C860T:p.T287M,REXO5:NM_001199053:exon9:c.C860T:p.T287M,REXO5:NM_030941:exon9:c.C860T:p.T287M",D,D,D,T,D,T
chr16,88501343,88501343,C,T,R013_F,ZNF469,Missense_Mutation,NM_001367624,exon1,c.C7465T,p.R2489W,SNP,SNVindel,exonic,ZNF469,NA,nonsynonymous SNV,ZNF469:NM_001367624:exon1:c.C7465T:p.R2489W,D,.,N,T,D,T
chr17,1960587,1960587,G,A,R013_F,HIC1,Silent,NM_001098202,exon2,c.G660A,p.A220A,SNP,SNVindel,exonic,HIC1,NA,synonymous SNV,"HIC1:NM_001098202:exon2:c.G660A:p.A220A,HIC1:NM_006497:exon2:c.G603A:p.A201A",NA,NA,NA,NA,NA,NA
chr17,10299899,10299899,G,A,R013_F,MYH8,Missense_Mutation,NM_002472,exon32,c.C4499T,p.T1500M,SNP,SNVindel,exonic,MYH8,NA,nonsynonymous SNV,MYH8:NM_002472:exon32:c.C4499T:p.T1500M,D,U,D,D,D,D
chr17,77707429,77707429,T,A,R013_F,ENPP7,Missense_Mutation,NM_178543,exon2,c.T377A,p.I126N,SNP,SNVindel,exonic,ENPP7,NA,nonsynonymous SNV,ENPP7:NM_178543:exon2:c.T377A:p.I126N,D,D,D,T,D,D
chr18,55024492,55024492,A,T,R013_F,ST8SIA3,Missense_Mutation,NM_015879,exon3,c.A651T,p.K217N,SNP,SNVindel,exonic,ST8SIA3,NA,nonsynonymous SNV,ST8SIA3:NM_015879:exon3:c.A651T:p.K217N,D,D,D,T,N,T
chr18,61260120,61260120,T,C,R013_F,SERPINB13,Silent,NM_001307923,exon5,c.T414C,p.H138H,SNP,SNVindel,exonic,SERPINB13,NA,synonymous SNV,"SERPINB13:NM_001307923:exon5:c.T414C:p.H138H,SERPINB13:NM_012397:exon5:c.T387C:p.H129H",NA,NA,NA,NA,NA,NA
chr19,1004895,1004895,C,T,R013_F,GRIN3B,Silent,NM_138690,exon3,c.C1395T,p.N465N,SNP,SNVindel,exonic,GRIN3B,NA,synonymous SNV,GRIN3B:NM_138690:exon3:c.C1395T:p.N465N,NA,NA,NA,NA,NA,NA
chr19,9063275,9063275,T,C,R013_F,MUC16,Silent,NM_024690,exon3,c.A24171G,p.T8057T,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon3:c.A24171G:p.T8057T,NA,NA,NA,NA,NA,NA
chr19,9071156,9071156,G,A,R013_F,MUC16,Silent,NM_024690,exon3,c.C16290T,p.S5430S,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon3:c.C16290T:p.S5430S,NA,NA,NA,NA,NA,NA
chr19,55813526,55813526,C,A,R013_F,BRSK1,Missense_Mutation,NM_032430,exon9,c.C847A,p.P283T,SNP,SNVindel,exonic,BRSK1,NA,nonsynonymous SNV,BRSK1:NM_032430:exon9:c.C847A:p.P283T,T,D,D,T,D,T
chr19,59068133,59068133,G,A,R013_F,UBE2M,Missense_Mutation,NM_003969,exon4,c.C268T,p.P90S,SNP,SNVindel,exonic,UBE2M,NA,nonsynonymous SNV,UBE2M:NM_003969:exon4:c.C268T:p.P90S,D,D,D,T,D,T
chr20,42788935,42788935,C,T,R013_F,JPH2,Silent,NM_020433,exon2,c.G492A,p.S164S,SNP,SNVindel,exonic,JPH2,NA,synonymous SNV,JPH2:NM_020433:exon2:c.G492A:p.S164S,NA,NA,NA,NA,NA,NA
chr20,61978133,61978133,G,A,R013_F,CHRNA4,Missense_Mutation,NM_000744,exon6,c.C1841T,p.T614M,SNP,SNVindel,exonic,CHRNA4,NA,nonsynonymous SNV,"CHRNA4:NM_000744:exon6:c.C1841T:p.T614M,CHRNA4:NM_001256573:exon6:c.C1313T:p.T438M",D,D,D,D,D,D
chr21,43162069,43162069,C,T,R013_F,RIPK4,Silent,NM_020639,exon8,c.G1284A,p.P428P,SNP,SNVindel,exonic,RIPK4,NA,synonymous SNV,RIPK4:NM_020639:exon8:c.G1284A:p.P428P,NA,NA,NA,NA,NA,NA
chr21,47954545,47954545,C,T,R013_F,DIP2A,Silent,NM_001146115,exon12,c.C1458T,p.H486H,SNP,SNVindel,exonic,DIP2A,NA,synonymous SNV,"DIP2A:NM_001146115:exon12:c.C1458T:p.H486H,DIP2A:NM_001353944:exon12:c.C1338T:p.H446H,DIP2A:NM_001146116:exon13:c.C1575T:p.H525H,DIP2A:NM_001353942:exon13:c.C1590T:p.H530H,DIP2A:NM_001353943:exon13:c.C1587T:p.H529H,DIP2A:NM_015151:exon13:c.C1587T:p.H529H,DIP2A:NM_206889:exon13:c.C1587T:p.H529H,DIP2A:NM_206890:exon13:c.C1587T:p.H529H,DIP2A:NM_206891:exon13:c.C1587T:p.H529H",NA,NA,NA,NA,NA,NA
chr22,41895854,41895854,T,C,R013_F,ACO2,Missense_Mutation,NM_001098,exon2,c.T161C,p.I54T,SNP,SNVindel,exonic,ACO2,NA,nonsynonymous SNV,ACO2:NM_001098:exon2:c.T161C:p.I54T,T,D,D,T,D,T
chrX,72433292,72433292,A,C,R013_F,NAP1L2,Missense_Mutation,NM_021963,exon1,c.T1037G,p.I346S,SNP,SNVindel,exonic,NAP1L2,NA,nonsynonymous SNV,NAP1L2:NM_021963:exon1:c.T1037G:p.I346S,D,U,D,T,D,T
chrX,83723887,83723887,C,A,R013_F,HDX,Missense_Mutation,NM_001177478,exon3,c.G670T,p.A224S,SNP,SNVindel,exonic,HDX,NA,nonsynonymous SNV,"HDX:NM_001177478:exon3:c.G670T:p.A224S,HDX:NM_144657:exon3:c.G844T:p.A282S,HDX:NM_001177479:exon4:c.G844T:p.A282S",T,N,N,T,N,T
chrX,128696712,128696712,G,A,R013_F,OCRL,Missense_Mutation,NM_000276,exon12,c.G1193A,p.S398N,SNP,SNVindel,exonic,OCRL,NA,nonsynonymous SNV,"OCRL:NM_000276:exon12:c.G1193A:p.S398N,OCRL:NM_001318784:exon12:c.G1196A:p.S399N,OCRL:NM_001587:exon12:c.G1193A:p.S398N",T,D,D,T,N,T
chrX,152806992,152806992,G,A,R013_F,ATP2B3,Silent,NM_001001344,exon2,c.G384A,p.A128A,SNP,SNVindel,exonic,ATP2B3,NA,synonymous SNV,"ATP2B3:NM_001001344:exon2:c.G384A:p.A128A,ATP2B3:NM_021949:exon2:c.G384A:p.A128A",NA,NA,NA,NA,NA,NA
chr1,6500428,6500428,G,A,R013_S,ESPN,Silent,NM_001367473,exon3,c.G603A,p.A201A,SNP,SNVindel,exonic,ESPN,NA,synonymous SNV,"ESPN:NM_001367473:exon3:c.G603A:p.A201A,ESPN:NM_001367474:exon3:c.G603A:p.A201A,ESPN:NM_031475:exon3:c.G603A:p.A201A",NA,NA,NA,NA,NA,NA
chr1,48459724,48459724,G,A,R013_S,TRABD2B,Silent,NM_001194986,exon2,c.C648T,p.N216N,SNP,SNVindel,exonic,TRABD2B,NA,synonymous SNV,TRABD2B:NM_001194986:exon2:c.C648T:p.N216N,NA,NA,NA,NA,NA,NA
chr1,93299121,93299121,T,G,R013_S,RPL5,Nonsense_Mutation,NM_000969,exon3,c.T93G,p.Y31X,SNP,SNVindel,exonic,RPL5,NA,stopgain,RPL5:NM_000969:exon3:c.T93G:p.Y31X,.,D,A,.,.,.
chr1,113252895,113252895,G,A,R013_S,PPM1J,Missense_Mutation,NM_005167,exon10,c.C1408T,p.R470W,SNP,SNVindel,exonic,PPM1J,NA,nonsynonymous SNV,PPM1J:NM_005167:exon10:c.C1408T:p.R470W,D,D,D,T,D,T
chr1,115600202,115600202,C,T,R013_S,TSPAN2,Missense_Mutation,NM_001308315,exon5,c.G397A,p.E133K,SNP,SNVindel,exonic,TSPAN2,NA,nonsynonymous SNV,"TSPAN2:NM_001308315:exon5:c.G397A:p.E133K,TSPAN2:NM_001308316:exon6:c.G472A:p.E158K,TSPAN2:NM_005725:exon6:c.G472A:p.E158K",T,.,N,T,N,T
chr1,159842345,159842345,C,T,R013_S,CFAP45,Missense_Mutation,NM_012337,exon12,c.G1586A,p.G529D,SNP,SNVindel,exonic,CFAP45,NA,nonsynonymous SNV,CFAP45:NM_012337:exon12:c.G1586A:p.G529D,D,D,D,T,D,T
chr1,169390904,169390904,C,A,R013_S,CCDC181,Missense_Mutation,NM_001300969,exon3,c.G765T,p.L255F,SNP,SNVindel,exonic,CCDC181,NA,nonsynonymous SNV,"CCDC181:NM_001300969:exon3:c.G765T:p.L255F,CCDC181:NM_021179:exon3:c.G765T:p.L255F,CCDC181:NM_001300968:exon4:c.G765T:p.L255F",T,N,N,T,N,T
chr1,176759036,176759036,G,C,R013_S,PAPPA2,Missense_Mutation,NM_020318,exon18,c.G4807C,p.E1603Q,SNP,SNVindel,exonic,PAPPA2,NA,nonsynonymous SNV,PAPPA2:NM_020318:exon18:c.G4807C:p.E1603Q,T,D,D,T,N,T
chr1,204423908,204423908,A,T,R013_S,PIK3C2B,Missense_Mutation,NM_002646,exon13,c.T1955A,p.F652Y,SNP,SNVindel,exonic,PIK3C2B,NA,nonsynonymous SNV,PIK3C2B:NM_002646:exon13:c.T1955A:p.F652Y,T,N,D,T,N,T
chr1,215848895,215848895,G,A,R013_S,USH2A,Missense_Mutation,NM_206933,exon63,c.C12358T,p.R4120C,SNP,SNVindel,exonic,USH2A,NA,nonsynonymous SNV,USH2A:NM_206933:exon63:c.C12358T:p.R4120C,D,N,D,T,D,T
chr1,235505484,235505484,G,A,R013_S,GGPS1,Silent,NM_001037277,exon4,c.G300A,p.L100L,SNP,SNVindel,exonic,GGPS1,NA,synonymous SNV,GGPS1:NM_001037277:exon4:c.G300A:p.L100L,NA,NA,NA,NA,NA,NA
chr1,237895382,237895382,A,C,R013_S,RYR2,Missense_Mutation,NM_001035,exon78,c.A10972C,p.T3658P,SNP,SNVindel,exonic,RYR2,NA,nonsynonymous SNV,RYR2:NM_001035:exon78:c.A10972C:p.T3658P,T,N,N,D,N,T
chr1,247695611,247695611,G,T,R013_S,OR2C3,Missense_Mutation,NM_198074,exon2,c.C203A,p.P68H,SNP,SNVindel,exonic,OR2C3,NA,nonsynonymous SNV,OR2C3:NM_198074:exon2:c.C203A:p.P68H,D,U,D,T,N,T
chr2,170428397,170428397,T,G,R013_S,FASTKD1,Missense_Mutation,NM_001281476,exon2,c.A143C,p.D48A,SNP,SNVindel,exonic,FASTKD1,NA,nonsynonymous SNV,"FASTKD1:NM_001281476:exon2:c.A143C:p.D48A,FASTKD1:NM_001322046:exon2:c.A143C:p.D48A,FASTKD1:NM_001322048:exon2:c.A143C:p.D48A,FASTKD1:NM_001322049:exon2:c.A143C:p.D48A,FASTKD1:NM_024622:exon2:c.A143C:p.D48A",T,N,N,T,N,T
chr2,179642448,179642448,G,A,R013_S,TTN,Missense_Mutation,NM_003319,exon24,c.C4325T,p.T1442M,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon24:c.C4325T:p.T1442M,TTN:NM_133432:exon24:c.C4325T:p.T1442M,TTN:NM_133437:exon24:c.C4325T:p.T1442M,TTN:NM_001256850:exon25:c.C4463T:p.T1488M,TTN:NM_001267550:exon25:c.C4463T:p.T1488M,TTN:NM_133378:exon25:c.C4463T:p.T1488M,TTN:NM_133379:exon25:c.C4463T:p.T1488M",D,.,D,T,D,T
chr2,237405830,237405830,G,C,R013_S,IQCA1,Missense_Mutation,NM_001270584,exon2,c.C312G,p.I104M,SNP,SNVindel,exonic,IQCA1,NA,nonsynonymous SNV,"IQCA1:NM_001270584:exon2:c.C312G:p.I104M,IQCA1:NM_001270585:exon2:c.C333G:p.I111M,IQCA1:NM_024726:exon2:c.C312G:p.I104M",D,D,N,D,N,T
chr3,97124085,97124085,C,A,R013_S,EPHA6,Silent,NM_001080448,exon6,c.C1698A,p.A566A,SNP,SNVindel,exonic,EPHA6,NA,synonymous SNV,EPHA6:NM_001080448:exon6:c.C1698A:p.A566A,NA,NA,NA,NA,NA,NA
chr3,142539750,142539750,C,T,R013_S,PCOLCE2,Missense_Mutation,NM_013363,exon8,c.G1087A,p.V363I,SNP,SNVindel,exonic,PCOLCE2,NA,nonsynonymous SNV,PCOLCE2:NM_013363:exon8:c.G1087A:p.V363I,T,D,D,T,N,T
chr4,81884695,81884695,A,G,R013_S,CFAP299,Missense_Mutation,NM_152770,exon6,c.A631G,p.R211G,SNP,SNVindel,exonic,CFAP299,NA,nonsynonymous SNV,"CFAP299:NM_152770:exon6:c.A631G:p.R211G,CFAP299:NM_001206997:exon7:c.A682G:p.R228G",D,D,N,T,D,T
chr4,82126062,82126062,C,T,R013_S,PRKG2,Missense_Mutation,NM_001282485,exon2,c.G140A,p.R47Q,SNP,SNVindel,exonic,PRKG2,NA,nonsynonymous SNV,"PRKG2:NM_001282485:exon2:c.G140A:p.R47Q,PRKG2:NM_001363401:exon2:c.G140A:p.R47Q,PRKG2:NM_006259:exon2:c.G140A:p.R47Q",T,D,N,D,N,T
chr4,96051102,96051102,C,T,R013_S,BMPR1B,Silent,NM_001256792,exon7,c.C675T,p.G225G,SNP,SNVindel,exonic,BMPR1B,NA,synonymous SNV,"BMPR1B:NM_001256792:exon7:c.C675T:p.G225G,BMPR1B:NM_001256793:exon7:c.C765T:p.G255G,BMPR1B:NM_001256794:exon7:c.C675T:p.G225G,BMPR1B:NM_001203:exon9:c.C675T:p.G225G",NA,NA,NA,NA,NA,NA
chr4,166960527,166960527,A,G,R013_S,TLL1,Missense_Mutation,NM_012464,exon10,c.A1195G,p.S399G,SNP,SNVindel,exonic,TLL1,NA,nonsynonymous SNV,TLL1:NM_012464:exon10:c.A1195G:p.S399G,D,U,D,T,D,T
chr4,173232894,173232894,G,A,R013_S,GALNTL6,Missense_Mutation,NM_001034845,exon4,c.G377A,p.R126H,SNP,SNVindel,exonic,GALNTL6,NA,nonsynonymous SNV,GALNTL6:NM_001034845:exon4:c.G377A:p.R126H,D,N,D,T,D,D
chr4,187004591,187004591,A,G,R013_S,TLR3,Missense_Mutation,NM_003265,exon4,c.A1751G,p.D584G,SNP,SNVindel,exonic,TLR3,NA,nonsynonymous SNV,TLR3:NM_003265:exon4:c.A1751G:p.D584G,T,N,N,T,N,T
chr5,158745776,158745776,C,T,R013_S,IL12B,Missense_Mutation,NM_002187,exon6,c.G823A,p.V275I,SNP,SNVindel,exonic,IL12B,NA,nonsynonymous SNV,IL12B:NM_002187:exon6:c.G823A:p.V275I,T,N,N,T,N,T
chr5,169533443,169533443,A,G,R013_S,FOXI1,Missense_Mutation,NM_012188,exon1,c.A482G,p.N161S,SNP,SNVindel,exonic,FOXI1,NA,nonsynonymous SNV,"FOXI1:NM_012188:exon1:c.A482G:p.N161S,FOXI1:NM_144769:exon1:c.A482G:p.N161S",D,D,D,D,N,D
chr6,16146979,16146979,C,T,R013_S,MYLIP,Silent,NM_013262,exon7,c.C1335T,p.I445I,SNP,SNVindel,exonic,MYLIP,NA,synonymous SNV,MYLIP:NM_013262:exon7:c.C1335T:p.I445I,NA,NA,NA,NA,NA,NA
chr6,53010388,53010388,T,A,R013_S,GCM1,Missense_Mutation,NM_003643,exon2,c.A43T,p.S15C,SNP,SNVindel,exonic,GCM1,NA,nonsynonymous SNV,GCM1:NM_003643:exon2:c.A43T:p.S15C,D,N,D,T,N,T
chr6,72011094,72011094,A,G,R013_S,OGFRL1,Missense_Mutation,NM_001324266,exon7,c.A701G,p.Q234R,SNP,SNVindel,exonic,OGFRL1,NA,nonsynonymous SNV,"OGFRL1:NM_001324266:exon7:c.A701G:p.Q234R,OGFRL1:NM_024576:exon7:c.A698G:p.Q233R",T,D,D,T,N,T
chr6,154360917,154360917,G,A,R013_S,OPRM1,Missense_Mutation,NM_000914,exon1,c.G238A,p.V80M,SNP,SNVindel,exonic,OPRM1,NA,nonsynonymous SNV,"OPRM1:NM_000914:exon1:c.G238A:p.V80M,OPRM1:NM_001008503:exon1:c.G238A:p.V80M,OPRM1:NM_001008504:exon1:c.G238A:p.V80M,OPRM1:NM_001008505:exon1:c.G238A:p.V80M,OPRM1:NM_001145282:exon1:c.G238A:p.V80M,OPRM1:NM_001145283:exon1:c.G238A:p.V80M,OPRM1:NM_001145284:exon1:c.G238A:p.V80M,OPRM1:NM_001145285:exon1:c.G238A:p.V80M,OPRM1:NM_001145286:exon1:c.G238A:p.V80M,OPRM1:NM_001285522:exon1:c.G238A:p.V80M,OPRM1:NM_001285523:exon1:c.G238A:p.V80M,OPRM1:NM_001285524:exon2:c.G517A:p.V173M,OPRM1:NM_001145279:exon3:c.G517A:p.V173M",D,D,D,T,D,T
chr7,48315756,48315756,A,G,R013_S,ABCA13,Missense_Mutation,NM_152701,exon17,c.A6493G,p.I2165V,SNP,SNVindel,exonic,ABCA13,NA,nonsynonymous SNV,ABCA13:NM_152701:exon17:c.A6493G:p.I2165V,T,N,N,T,N,T
chr7,50607697,50607697,G,A,R013_S,DDC,Silent,NM_000790,exon3,c.C231T,p.F77F,SNP,SNVindel,exonic,DDC,NA,synonymous SNV,"DDC:NM_000790:exon3:c.C231T:p.F77F,DDC:NM_001082971:exon3:c.C231T:p.F77F,DDC:NM_001242887:exon3:c.C231T:p.F77F,DDC:NM_001242889:exon3:c.C231T:p.F77F,DDC:NM_001242890:exon3:c.C231T:p.F77F",NA,NA,NA,NA,NA,NA
chr7,70800566,70800566,G,T,R013_S,GALNT17,Missense_Mutation,NM_022479,exon2,c.G269T,p.G90V,SNP,SNVindel,exonic,GALNT17,NA,nonsynonymous SNV,GALNT17:NM_022479:exon2:c.G269T:p.G90V,D,D,D,T,N,T
chr7,71252822,71252822,C,G,R013_S,CALN1,Missense_Mutation,NM_001017440,exon6,c.G598C,p.A200P,SNP,SNVindel,exonic,CALN1,NA,nonsynonymous SNV,"CALN1:NM_001017440:exon6:c.G598C:p.A200P,CALN1:NM_001363460:exon6:c.G598C:p.A200P,CALN1:NM_031468:exon7:c.G724C:p.A242P",D,D,D,T,N,D
chr7,100238468,100238468,C,T,R013_S,TFR2,Missense_Mutation,NM_003227,exon3,c.G314A,p.R105Q,SNP,SNVindel,exonic,TFR2,NA,nonsynonymous SNV,TFR2:NM_003227:exon3:c.G314A:p.R105Q,T,D,D,T,N,T
chr7,100731814,100731814,A,G,R013_S,TRIM56,Silent,NM_030961,exon3,c.A1221G,p.G407G,SNP,SNVindel,exonic,TRIM56,NA,synonymous SNV,TRIM56:NM_030961:exon3:c.A1221G:p.G407G,NA,NA,NA,NA,NA,NA
chr7,102113148,102113148,T,C,R013_S,LRWD1,Missense_Mutation,NM_001317721,exon14,c.T1244C,p.I415T,SNP,SNVindel,exonic,LRWD1,NA,nonsynonymous SNV,"LRWD1:NM_001317721:exon14:c.T1244C:p.I415T,LRWD1:NM_152892:exon14:c.T1700C:p.I567T",T,N,N,T,N,T
chr7,105903906,105903906,A,G,R013_S,NAMPT,Missense_Mutation,NM_005746,exon7,c.T901C,p.S301P,SNP,SNVindel,exonic,NAMPT,NA,nonsynonymous SNV,NAMPT:NM_005746:exon7:c.T901C:p.S301P,T,N,N,.,N,T
chr7,139298033,139298033,G,A,R013_S,HIPK2,Missense_Mutation,NM_001113239,exon9,c.C1946T,p.S649L,SNP,SNVindel,exonic,HIPK2,NA,nonsynonymous SNV,"HIPK2:NM_001113239:exon9:c.C1946T:p.S649L,HIPK2:NM_022740:exon9:c.C2027T:p.S676L",D,.,D,T,D,T
chr8,72959408,72959408,T,G,R013_S,TRPA1,Missense_Mutation,NM_007332,exon16,c.A1940C,p.E647A,SNP,SNVindel,exonic,TRPA1,NA,nonsynonymous SNV,TRPA1:NM_007332:exon16:c.A1940C:p.E647A,T,N,D,T,N,T
chr8,142367540,142367540,G,A,R013_S,GPR20,Missense_Mutation,NM_005293,exon2,c.C484T,p.R162C,SNP,SNVindel,exonic,GPR20,NA,nonsynonymous SNV,GPR20:NM_005293:exon2:c.C484T:p.R162C,D,D,D,T,D,T
chr9,98242820,98242820,T,C,R013_S,PTCH1,Missense_Mutation,NM_000264,exon6,c.A797G,p.E266G,SNP,SNVindel,exonic,PTCH1,NA,nonsynonymous SNV,"PTCH1:NM_000264:exon6:c.A797G:p.E266G,PTCH1:NM_001083602:exon6:c.A599G:p.E200G,PTCH1:NM_001083603:exon6:c.A794G:p.E265G,PTCH1:NM_001083604:exon6:c.A344G:p.E115G,PTCH1:NM_001083605:exon6:c.A344G:p.E115G,PTCH1:NM_001083606:exon6:c.A344G:p.E115G,PTCH1:NM_001083607:exon6:c.A344G:p.E115G,PTCH1:NM_001354918:exon6:c.A797G:p.E266G",D,D,D,D,D,T
chr10,22616950,22616950,A,G,R013_S,BMI1,Missense_Mutation,NM_005180,exon6,c.A388G,p.I130V,SNP,SNVindel,exonic,BMI1;COMMD3-BMI1,NA,nonsynonymous SNV,"BMI1:NM_005180:exon6:c.A388G:p.I130V,COMMD3-BMI1:NM_001204062:exon10:c.A817G:p.I273V",T,D,D,T,N,T
chr10,50531990,50531990,G,A,R013_S,C10orf71,Missense_Mutation,NM_001135196,exon3,c.G1400A,p.R467Q,SNP,SNVindel,exonic,C10orf71,NA,nonsynonymous SNV,C10orf71:NM_001135196:exon3:c.G1400A:p.R467Q,T,N,N,T,N,T
chr10,89692818,89692818,T,C,R013_S,PTEN,Missense_Mutation,NM_000314,exon5,c.T302C,p.I101T,SNP,SNVindel,exonic,PTEN,NA,nonsynonymous SNV,"PTEN:NM_000314:exon5:c.T302C:p.I101T,PTEN:NM_001304717:exon6:c.T821C:p.I274T",D,D,D,D,D,D
chr11,1902704,1902704,C,T,R013_S,LSP1,Silent,NM_001013253,exon3,c.C48T,p.D16D,SNP,SNVindel,exonic,LSP1,NA,synonymous SNV,"LSP1:NM_001013253:exon3:c.C48T:p.D16D,LSP1:NM_001013254:exon3:c.C48T:p.D16D,LSP1:NM_001013255:exon3:c.C48T:p.D16D,LSP1:NM_001289005:exon3:c.C48T:p.D16D,LSP1:NM_002339:exon3:c.C234T:p.D78D,LSP1:NM_001242932:exon4:c.C618T:p.D206D",NA,NA,NA,NA,NA,NA
chr11,6292574,6292574,C,T,R013_S,CCKBR,Missense_Mutation,NM_001318029,exon4,c.C893T,p.S298L,SNP,SNVindel,exonic,CCKBR,NA,nonsynonymous SNV,"CCKBR:NM_001318029:exon4:c.C893T:p.S298L,CCKBR:NM_001363552:exon4:c.C1352T:p.S451L,CCKBR:NM_176875:exon5:c.C1145T:p.S382L",D,D,D,T,D,D
chr11,6867588,6867588,T,C,R013_S,OR10A5,Silent,NM_178168,exon1,c.T675C,p.A225A,SNP,SNVindel,exonic,OR10A5,NA,synonymous SNV,OR10A5:NM_178168:exon1:c.T675C:p.A225A,NA,NA,NA,NA,NA,NA
chr11,64698945,64698945,C,T,R013_S,PPP2R5B,Missense_Mutation,NM_006244,exon9,c.C929T,p.A310V,SNP,SNVindel,exonic,PPP2R5B,NA,nonsynonymous SNV,PPP2R5B:NM_006244:exon9:c.C929T:p.A310V,T,D,D,.,N,T
chr12,53291266,53291266,G,A,R013_S,KRT8,Silent,NM_002273,exon8,c.C1398T,p.I466I,SNP,SNVindel,exonic,KRT8,NA,synonymous SNV,"KRT8:NM_002273:exon8:c.C1398T:p.I466I,KRT8:NM_001256282:exon9:c.C1482T:p.I494I,KRT8:NM_001256293:exon9:c.C1398T:p.I466I",NA,NA,NA,NA,NA,NA
chr12,54911351,54911351,G,A,R013_S,NCKAP1L,Missense_Mutation,NM_001184976,exon12,c.G980A,p.R327H,SNP,SNVindel,exonic,NCKAP1L,NA,nonsynonymous SNV,"NCKAP1L:NM_001184976:exon12:c.G980A:p.R327H,NCKAP1L:NM_005337:exon12:c.G1130A:p.R377H",D,D,D,T,D,T
chr12,97038150,97038150,C,T,R013_S,CFAP54,Missense_Mutation,NM_001306084,exon33,c.C4511T,p.T1504M,SNP,SNVindel,exonic,CFAP54,NA,nonsynonymous SNV,"CFAP54:NM_001306084:exon33:c.C4511T:p.T1504M,CFAP54:NM_001367885:exon33:c.C4511T:p.T1504M",T,.,N,.,N,T
chr12,130647911,130647911,G,A,R013_S,FZD10,Missense_Mutation,NM_007197,exon1,c.G424A,p.D142N,SNP,SNVindel,exonic,FZD10,NA,nonsynonymous SNV,FZD10:NM_007197:exon1:c.G424A:p.D142N,T,U,D,T,D,T
chr14,60005463,60005463,A,T,R013_S,CCDC175,Missense_Mutation,NM_001164399,exon12,c.T1451A,p.I484N,SNP,SNVindel,exonic,CCDC175,NA,nonsynonymous SNV,CCDC175:NM_001164399:exon12:c.T1451A:p.I484N,D,N,N,T,D,T
chr14,88652476,88652476,C,T,R013_S,KCNK10,Silent,NM_021161,exon7,c.G1020A,p.A340A,SNP,SNVindel,exonic,KCNK10,NA,synonymous SNV,"KCNK10:NM_021161:exon7:c.G1020A:p.A340A,KCNK10:NM_138317:exon7:c.G1035A:p.A345A,KCNK10:NM_138318:exon7:c.G1035A:p.A345A",NA,NA,NA,NA,NA,NA
chr14,103396941,103396941,C,T,R013_S,AMN,Missense_Mutation,NM_030943,exon12,c.C1286T,p.P429L,SNP,SNVindel,exonic,AMN,NA,nonsynonymous SNV,AMN:NM_030943:exon12:c.C1286T:p.P429L,T,U,N,D,N,T
chr14,103602158,103602158,G,A,R013_S,TNFAIP2,Missense_Mutation,NM_001371220,exon13,c.G1969A,p.V657M,SNP,SNVindel,exonic,TNFAIP2,NA,nonsynonymous SNV,"TNFAIP2:NM_001371220:exon13:c.G1969A:p.V657M,TNFAIP2:NM_001371221:exon13:c.G1969A:p.V657M",NA,NA,NA,NA,NA,NA
chr15,32928545,32928545,C,A,R013_S,ARHGAP11A,Missense_Mutation,NM_001286479,exon12,c.C1004A,p.P335H,SNP,SNVindel,exonic,ARHGAP11A,NA,nonsynonymous SNV,"ARHGAP11A:NM_001286479:exon12:c.C1004A:p.P335H,ARHGAP11A:NM_014783:exon12:c.C1571A:p.P524H,ARHGAP11A:NM_001286480:exon13:c.C1004A:p.P335H",D,D,D,T,D,T
chr15,50534828,50534828,G,A,R013_S,HDC,Missense_Mutation,NM_001306146,exon11,c.C1519T,p.L507F,SNP,SNVindel,exonic,HDC,NA,nonsynonymous SNV,"HDC:NM_001306146:exon11:c.C1519T:p.L507F,HDC:NM_002112:exon12:c.C1618T:p.L540F",T,N,N,T,N,T
chr15,94945247,94945247,C,T,R013_S,MCTP2,Missense_Mutation,NM_001159644,exon9,c.C848T,p.A283V,SNP,SNVindel,exonic,MCTP2,NA,nonsynonymous SNV,"MCTP2:NM_001159644:exon9:c.C848T:p.A283V,MCTP2:NM_001159643:exon16:c.C2084T:p.A695V,MCTP2:NM_018349:exon16:c.C2084T:p.A695V",T,N,N,T,N,T
chr16,716038,716038,G,A,R013_S,WDR90,Missense_Mutation,NM_145294,exon36,c.G4523A,p.R1508H,SNP,SNVindel,exonic,WDR90,NA,nonsynonymous SNV,WDR90:NM_145294:exon36:c.G4523A:p.R1508H,D,D,D,T,D,D
chr16,20838418,20838418,C,T,R013_S,REXO5,Missense_Mutation,NM_001144924,exon9,c.C860T,p.T287M,SNP,SNVindel,exonic,REXO5,NA,nonsynonymous SNV,"REXO5:NM_001144924:exon9:c.C860T:p.T287M,REXO5:NM_001199053:exon9:c.C860T:p.T287M,REXO5:NM_030941:exon9:c.C860T:p.T287M",D,D,D,T,D,T
chr17,1960587,1960587,G,A,R013_S,HIC1,Silent,NM_001098202,exon2,c.G660A,p.A220A,SNP,SNVindel,exonic,HIC1,NA,synonymous SNV,"HIC1:NM_001098202:exon2:c.G660A:p.A220A,HIC1:NM_006497:exon2:c.G603A:p.A201A",NA,NA,NA,NA,NA,NA
chr17,5037195,5037195,G,A,R013_S,USP6,Missense_Mutation,NM_004505,exon7,c.G398A,p.R133K,SNP,SNVindel,exonic,USP6,NA,nonsynonymous SNV,"USP6:NM_004505:exon7:c.G398A:p.R133K,USP6:NM_001304284:exon15:c.G398A:p.R133K",T,N,D,T,N,T
chr17,10299899,10299899,G,A,R013_S,MYH8,Missense_Mutation,NM_002472,exon32,c.C4499T,p.T1500M,SNP,SNVindel,exonic,MYH8,NA,nonsynonymous SNV,MYH8:NM_002472:exon32:c.C4499T:p.T1500M,D,U,D,D,D,D
chr17,10347945,10347945,A,C,R013_S,MYH4,Silent,NM_017533,exon39,c.T5643G,p.A1881A,SNP,SNVindel,exonic,MYH4,NA,synonymous SNV,MYH4:NM_017533:exon39:c.T5643G:p.A1881A,NA,NA,NA,NA,NA,NA
chr17,77707429,77707429,T,A,R013_S,ENPP7,Missense_Mutation,NM_178543,exon2,c.T377A,p.I126N,SNP,SNVindel,exonic,ENPP7,NA,nonsynonymous SNV,ENPP7:NM_178543:exon2:c.T377A:p.I126N,D,D,D,T,D,D
chr17,79210590,79210590,G,T,R013_S,TEPSIN,Silent,NM_001363764,exon4,c.C225A,p.I75I,SNP,SNVindel,exonic,TEPSIN,NA,synonymous SNV,"TEPSIN:NM_001363764:exon4:c.C225A:p.I75I,TEPSIN:NM_144679:exon4:c.C225A:p.I75I",NA,NA,NA,NA,NA,NA
chr18,55024492,55024492,A,T,R013_S,ST8SIA3,Missense_Mutation,NM_015879,exon3,c.A651T,p.K217N,SNP,SNVindel,exonic,ST8SIA3,NA,nonsynonymous SNV,ST8SIA3:NM_015879:exon3:c.A651T:p.K217N,D,D,D,T,N,T
chr18,61260120,61260120,T,C,R013_S,SERPINB13,Silent,NM_001307923,exon5,c.T414C,p.H138H,SNP,SNVindel,exonic,SERPINB13,NA,synonymous SNV,"SERPINB13:NM_001307923:exon5:c.T414C:p.H138H,SERPINB13:NM_012397:exon5:c.T387C:p.H129H",NA,NA,NA,NA,NA,NA
chr19,1004895,1004895,C,T,R013_S,GRIN3B,Silent,NM_138690,exon3,c.C1395T,p.N465N,SNP,SNVindel,exonic,GRIN3B,NA,synonymous SNV,GRIN3B:NM_138690:exon3:c.C1395T:p.N465N,NA,NA,NA,NA,NA,NA
chr19,9063275,9063275,T,C,R013_S,MUC16,Silent,NM_024690,exon3,c.A24171G,p.T8057T,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon3:c.A24171G:p.T8057T,NA,NA,NA,NA,NA,NA
chr19,9071156,9071156,G,A,R013_S,MUC16,Silent,NM_024690,exon3,c.C16290T,p.S5430S,SNP,SNVindel,exonic,MUC16,NA,synonymous SNV,MUC16:NM_024690:exon3:c.C16290T:p.S5430S,NA,NA,NA,NA,NA,NA
chr19,12958717,12958717,A,G,R013_S,MAST1,Missense_Mutation,NM_014975,exon7,c.A620G,p.D207G,SNP,SNVindel,exonic,MAST1,NA,nonsynonymous SNV,MAST1:NM_014975:exon7:c.A620G:p.D207G,T,D,D,T,D,T
chr19,42191045,42191045,C,G,R013_S,CEACAM7,Missense_Mutation,NM_001291485,exon2,c.G172C,p.E58Q,SNP,SNVindel,exonic,CEACAM7,NA,nonsynonymous SNV,"CEACAM7:NM_001291485:exon2:c.G172C:p.E58Q,CEACAM7:NM_006890:exon2:c.G172C:p.E58Q",D,.,N,T,N,T
chr19,55494859,55494859,C,T,R013_S,NLRP2,Missense_Mutation,NM_001174082,exon5,c.C1727T,p.T576M,SNP,SNVindel,exonic,NLRP2,NA,nonsynonymous SNV,"NLRP2:NM_001174082:exon5:c.C1727T:p.T576M,NLRP2:NM_001174081:exon6:c.C1793T:p.T598M,NLRP2:NM_001348003:exon6:c.C1784T:p.T595M,NLRP2:NM_017852:exon6:c.C1793T:p.T598M,NLRP2:NM_001174083:exon7:c.C1724T:p.T575M",D,.,N,T,N,T
chr19,55813526,55813526,C,A,R013_S,BRSK1,Missense_Mutation,NM_032430,exon9,c.C847A,p.P283T,SNP,SNVindel,exonic,BRSK1,NA,nonsynonymous SNV,BRSK1:NM_032430:exon9:c.C847A:p.P283T,T,D,D,T,D,T
chr19,59068133,59068133,G,A,R013_S,UBE2M,Missense_Mutation,NM_003969,exon4,c.C268T,p.P90S,SNP,SNVindel,exonic,UBE2M,NA,nonsynonymous SNV,UBE2M:NM_003969:exon4:c.C268T:p.P90S,D,D,D,T,D,T
chr20,9498825,9498825,C,T,R013_S,LAMP5,Missense_Mutation,NM_001199897,exon4,c.C482T,p.A161V,SNP,SNVindel,exonic,LAMP5,NA,nonsynonymous SNV,"LAMP5:NM_001199897:exon4:c.C482T:p.A161V,LAMP5:NM_012261:exon5:c.C614T:p.A205V",T,N,N,T,N,T
chr21,38309235,38309235,G,A,R013_S,HLCS,Silent,NM_001352514,exon4,c.C951T,p.S317S,SNP,SNVindel,exonic,HLCS,NA,synonymous SNV,"HLCS:NM_001352514:exon4:c.C951T:p.S317S,HLCS:NM_001352515:exon4:c.C510T:p.S170S,HLCS:NM_001352516:exon4:c.C510T:p.S170S,HLCS:NM_001352517:exon4:c.C510T:p.S170S,HLCS:NM_001352518:exon4:c.C510T:p.S170S,HLCS:NM_000411:exon5:c.C510T:p.S170S,HLCS:NM_001242784:exon5:c.C510T:p.S170S,HLCS:NM_001242785:exon5:c.C510T:p.S170S",NA,NA,NA,NA,NA,NA
chr21,43162069,43162069,C,T,R013_S,RIPK4,Silent,NM_020639,exon8,c.G1284A,p.P428P,SNP,SNVindel,exonic,RIPK4,NA,synonymous SNV,RIPK4:NM_020639:exon8:c.G1284A:p.P428P,NA,NA,NA,NA,NA,NA
chr21,47954545,47954545,C,T,R013_S,DIP2A,Silent,NM_001146115,exon12,c.C1458T,p.H486H,SNP,SNVindel,exonic,DIP2A,NA,synonymous SNV,"DIP2A:NM_001146115:exon12:c.C1458T:p.H486H,DIP2A:NM_001353944:exon12:c.C1338T:p.H446H,DIP2A:NM_001146116:exon13:c.C1575T:p.H525H,DIP2A:NM_001353942:exon13:c.C1590T:p.H530H,DIP2A:NM_001353943:exon13:c.C1587T:p.H529H,DIP2A:NM_015151:exon13:c.C1587T:p.H529H,DIP2A:NM_206889:exon13:c.C1587T:p.H529H,DIP2A:NM_206890:exon13:c.C1587T:p.H529H,DIP2A:NM_206891:exon13:c.C1587T:p.H529H",NA,NA,NA,NA,NA,NA
chr22,41895854,41895854,T,C,R013_S,ACO2,Missense_Mutation,NM_001098,exon2,c.T161C,p.I54T,SNP,SNVindel,exonic,ACO2,NA,nonsynonymous SNV,ACO2:NM_001098:exon2:c.T161C:p.I54T,T,D,D,T,D,T
chrX,72433292,72433292,A,C,R013_S,NAP1L2,Missense_Mutation,NM_021963,exon1,c.T1037G,p.I346S,SNP,SNVindel,exonic,NAP1L2,NA,nonsynonymous SNV,NAP1L2:NM_021963:exon1:c.T1037G:p.I346S,D,U,D,T,D,T
chrX,152806992,152806992,G,A,R013_S,ATP2B3,Silent,NM_001001344,exon2,c.G384A,p.A128A,SNP,SNVindel,exonic,ATP2B3,NA,synonymous SNV,"ATP2B3:NM_001001344:exon2:c.G384A:p.A128A,ATP2B3:NM_021949:exon2:c.G384A:p.A128A",NA,NA,NA,NA,NA,NA
chr1,1689890,1689890,G,A,R014_F,NADK,Silent,NM_001198995,exon1,c.C81T,p.L27L,SNP,SNVindel,exonic,NADK,NA,synonymous SNV,NADK:NM_001198995:exon1:c.C81T:p.L27L,NA,NA,NA,NA,NA,NA
chr1,16354522,16354522,C,T,R014_F,CLCNKA,Silent,NM_001257139,exon9,c.C747T,p.C249C,SNP,SNVindel,exonic,CLCNKA,NA,synonymous SNV,"CLCNKA:NM_001257139:exon9:c.C747T:p.C249C,CLCNKA:NM_001042704:exon10:c.C876T:p.C292C,CLCNKA:NM_004070:exon10:c.C876T:p.C292C",NA,NA,NA,NA,NA,NA
chr1,17552381,17552381,G,A,R014_F,PADI1,Missense_Mutation,NM_013358,exon5,c.G484A,p.A162T,SNP,SNVindel,exonic,PADI1,NA,nonsynonymous SNV,PADI1:NM_013358:exon5:c.G484A:p.A162T,T,N,N,T,N,T
chr1,22924345,22924345,G,A,R014_F,EPHA8,Missense_Mutation,NM_020526,exon11,c.G2107A,p.V703I,SNP,SNVindel,exonic,EPHA8,NA,nonsynonymous SNV,EPHA8:NM_020526:exon11:c.G2107A:p.V703I,T,D,D,D,N,D
chr1,22987847,22987847,G,A,R014_F,C1QB,Missense_Mutation,NM_000491,exon3,c.G730A,p.G244R,SNP,SNVindel,exonic,C1QB,NA,nonsynonymous SNV,"C1QB:NM_000491:exon3:c.G730A:p.G244R,C1QB:NM_001371184:exon4:c.G730A:p.G244R",D,D,D,D,D,D
chr1,33613273,33613273,C,T,R014_F,TRIM62,Silent,NM_001330483,exon5,c.G570A,p.S190S,SNP,SNVindel,exonic,TRIM62,NA,synonymous SNV,"TRIM62:NM_001330483:exon5:c.G570A:p.S190S,TRIM62:NM_018207:exon5:c.G933A:p.S311S",NA,NA,NA,NA,NA,NA
chr1,38463655,38463655,G,A,R014_F,FHL3,Missense_Mutation,NM_001243878,exon3,c.C157T,p.R53C,SNP,SNVindel,exonic,FHL3,NA,nonsynonymous SNV,"FHL3:NM_001243878:exon3:c.C157T:p.R53C,FHL3:NM_004468:exon4:c.C481T:p.R161C",D,D,D,D,D,D
chr1,48821392,48821392,G,A,R014_F,SPATA6,Missense_Mutation,NM_001286239,exon10,c.C1102T,p.R368W,SNP,SNVindel,exonic,SPATA6,NA,nonsynonymous SNV,"SPATA6:NM_001286239:exon10:c.C1102T:p.R368W,SPATA6:NM_001286238:exon11:c.C1144T:p.R382W,SPATA6:NM_019073:exon11:c.C1144T:p.R382W",D,D,D,T,D,T
chr1,79383570,79383570,C,T,R014_F,ADGRL4,Missense_Mutation,NM_022159,exon11,c.G1627A,p.V543M,SNP,SNVindel,exonic,ADGRL4,NA,nonsynonymous SNV,ADGRL4:NM_022159:exon11:c.G1627A:p.V543M,D,D,D,T,N,T
chr1,101194866,101194866,G,A,R014_F,VCAM1,Missense_Mutation,NM_001078,exon5,c.G1132A,p.E378K,SNP,SNVindel,exonic,VCAM1,NA,nonsynonymous SNV,"VCAM1:NM_001078:exon5:c.G1132A:p.E378K,VCAM1:NM_001199834:exon5:c.G946A:p.E316K",D,N,D,T,N,T
chr1,120438172,120438172,C,T,R014_F,ADAM30,Missense_Mutation,NM_021794,exon1,c.G788A,p.R263H,SNP,SNVindel,exonic,ADAM30,NA,nonsynonymous SNV,ADAM30:NM_021794:exon1:c.G788A:p.R263H,T,N,N,T,N,T
chr1,145303970,145303970,C,T,R014_F,NBPF10,Missense_Mutation,NM_001039703,exon9,c.C1367T,p.S456L,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon9:c.C1367T:p.S456L,NBPF10:NM_001302371:exon9:c.C1367T:p.S456L",.,.,N,.,.,T
chr1,151316984,151316984,G,A,R014_F,RFX5,Missense_Mutation,NM_000449,exon7,c.C382T,p.R128C,SNP,SNVindel,exonic,RFX5,NA,nonsynonymous SNV,"RFX5:NM_000449:exon7:c.C382T:p.R128C,RFX5:NM_001025603:exon7:c.C382T:p.R128C",D,D,D,D,D,D
chr1,158612231,158612231,G,A,R014_F,SPTA1,Silent,NM_003126,exon33,c.C4707T,p.S1569S,SNP,SNVindel,exonic,SPTA1,NA,synonymous SNV,SPTA1:NM_003126:exon33:c.C4707T:p.S1569S,NA,NA,NA,NA,NA,NA
chr1,158644160,158644160,C,T,R014_F,SPTA1,Missense_Mutation,NM_003126,exon10,c.G1309A,p.V437M,SNP,SNVindel,exonic,SPTA1,NA,nonsynonymous SNV,SPTA1:NM_003126:exon10:c.G1309A:p.V437M,D,N,N,T,N,T
chr1,167780075,167780075,C,T,R014_F,ADCY10,Missense_Mutation,NM_001167749,exon29,c.G4099A,p.V1367I,SNP,SNVindel,exonic,ADCY10,NA,nonsynonymous SNV,"ADCY10:NM_001167749:exon29:c.G4099A:p.V1367I,ADCY10:NM_001297772:exon32:c.G4282A:p.V1428I,ADCY10:NM_018417:exon32:c.G4558A:p.V1520I",T,N,N,T,N,T
chr1,170931074,170931074,C,T,R014_F,MROH9,Missense_Mutation,NM_001163629,exon6,c.C332T,p.T111M,SNP,SNVindel,exonic,MROH9,NA,nonsynonymous SNV,"MROH9:NM_001163629:exon6:c.C332T:p.T111M,MROH9:NM_025063:exon6:c.C332T:p.T111M",T,N,N,T,N,T
chr1,172356367,172356367,G,A,R014_F,DNM3,Missense_Mutation,NM_001136127,exon18,c.G2141A,p.R714H,SNP,SNVindel,exonic,DNM3,NA,nonsynonymous SNV,"DNM3:NM_001136127:exon18:c.G2141A:p.R714H,DNM3:NM_001350204:exon19:c.G2171A:p.R724H,DNM3:NM_001350206:exon19:c.G2171A:p.R724H,DNM3:NM_015569:exon19:c.G2153A:p.R718H",T,D,D,T,D,T
chr1,192544929,192544929,G,A,R014_F,RGS1,Missense_Mutation,NM_002922,exon1,c.G7A,p.A3T,SNP,SNVindel,exonic,RGS1,NA,nonsynonymous SNV,RGS1:NM_002922:exon1:c.G7A:p.A3T,D,N,D,T,N,T
chr1,196871608,196871608,G,A,R014_F,CFHR4,Missense_Mutation,NM_001201550,exon2,c.G119A,p.R40H,SNP,SNVindel,exonic,CFHR4,NA,nonsynonymous SNV,"CFHR4:NM_001201550:exon2:c.G119A:p.R40H,CFHR4:NM_001201551:exon2:c.G116A:p.R39H,CFHR4:NM_006684:exon2:c.G119A:p.R40H",T,.,N,T,N,T
chr1,202127302,202127302,G,A,R014_F,PTPN7,Missense_Mutation,NM_001364878,exon2,c.C250T,p.R84C,SNP,SNVindel,exonic,PTPN7,NA,nonsynonymous SNV,"PTPN7:NM_001364878:exon2:c.C250T:p.R84C,PTPN7:NM_080588:exon2:c.C367T:p.R123C,PTPN7:NM_001199797:exon3:c.C472T:p.R158C,PTPN7:NM_001364877:exon3:c.C250T:p.R84C,PTPN7:NM_002832:exon3:c.C565T:p.R189C",D,N,N,T,D,T
chr1,226352528,226352528,C,T,R014_F,ACBD3,Silent,NM_022735,exon3,c.G531A,p.A177A,SNP,SNVindel,exonic,ACBD3,NA,synonymous SNV,ACBD3:NM_022735:exon3:c.G531A:p.A177A,NA,NA,NA,NA,NA,NA
chr1,228003900,228003900,C,T,R014_F,PRSS38,Silent,NM_183062,exon2,c.C258T,p.G86G,SNP,SNVindel,exonic,PRSS38,NA,synonymous SNV,PRSS38:NM_183062:exon2:c.C258T:p.G86G,NA,NA,NA,NA,NA,NA
chr1,228612921,228612921,C,T,R014_F,HIST3H3,Missense_Mutation,NM_003493,exon1,c.G106A,p.V36M,SNP,SNVindel,exonic,HIST3H3,NA,nonsynonymous SNV,HIST3H3:NM_003493:exon1:c.G106A:p.V36M,.,N,N,T,D,T
chr1,229438650,229438650,G,A,R014_F,RAB4A,Missense_Mutation,NM_001271998,exon5,c.G268A,p.G90R,SNP,SNVindel,exonic,RAB4A,NA,nonsynonymous SNV,"RAB4A:NM_001271998:exon5:c.G268A:p.G90R,RAB4A:NM_004578:exon7:c.G583A:p.G195R",T,D,D,T,D,T
chr1,248366386,248366386,C,T,R014_F,OR2M3,Missense_Mutation,NM_001004689,exon1,c.C17T,p.S6L,SNP,SNVindel,exonic,OR2M3,NA,nonsynonymous SNV,OR2M3:NM_001004689:exon1:c.C17T:p.S6L,T,U,N,T,N,T
chr2,3743872,3743872,C,T,R014_F,ALLC,Silent,NM_018436,exon9,c.C675T,p.G225G,SNP,SNVindel,exonic,ALLC,NA,synonymous SNV,ALLC:NM_018436:exon9:c.C675T:p.G225G,NA,NA,NA,NA,NA,NA
chr2,25457216,25457216,G,A,R014_F,DNMT3A,Missense_Mutation,NM_001320893,exon18,c.C2215T,p.R739W,SNP,SNVindel,exonic,DNMT3A,NA,nonsynonymous SNV,"DNMT3A:NM_001320893:exon18:c.C2215T:p.R739W,DNMT3A:NM_153759:exon19:c.C2104T:p.R702W,DNMT3A:NM_022552:exon23:c.C2671T:p.R891W,DNMT3A:NM_175629:exon23:c.C2671T:p.R891W",D,N,D,D,D,D
chr2,26698272,26698272,G,A,R014_F,OTOF,Silent,NM_194322,exon7,c.C1011T,p.D337D,SNP,SNVindel,exonic,OTOF,NA,synonymous SNV,"OTOF:NM_194322:exon7:c.C1011T:p.D337D,OTOF:NM_004802:exon8:c.C840T:p.D280D,OTOF:NM_194323:exon8:c.C840T:p.D280D,OTOF:NM_001287489:exon25:c.C3081T:p.D1027D,OTOF:NM_194248:exon25:c.C3081T:p.D1027D",NA,NA,NA,NA,NA,NA
chr2,40342723,40342723,G,A,R014_F,SLC8A1,Silent,NM_001112802,exon8,c.C2484T,p.D828D,SNP,SNVindel,exonic,SLC8A1,NA,synonymous SNV,"SLC8A1:NM_001112802:exon8:c.C2484T:p.D828D,SLC8A1:NM_001351490:exon8:c.C2487T:p.D829D,SLC8A1:NM_001351491:exon8:c.C2487T:p.D829D,SLC8A1:NM_001351492:exon8:c.C2487T:p.D829D,SLC8A1:NM_001351494:exon8:c.C2484T:p.D828D,SLC8A1:NM_001112800:exon9:c.C2577T:p.D859D,SLC8A1:NM_001112801:exon9:c.C2553T:p.D851D,SLC8A1:NM_001252624:exon9:c.C2568T:p.D856D,SLC8A1:NM_001351483:exon9:c.C2508T:p.D836D,SLC8A1:NM_001351484:exon9:c.C2508T:p.D836D,SLC8A1:NM_001351485:exon9:c.C2508T:p.D836D,SLC8A1:NM_001351486:exon9:c.C2505T:p.D835D,SLC8A1:NM_001351487:exon9:c.C2556T:p.D852D,SLC8A1:NM_001351488:exon9:c.C2556T:p.D852D,SLC8A1:NM_001351489:exon9:c.C2556T:p.D852D,SLC8A1:NM_001351493:exon10:c.C2568T:p.D856D,SLC8A1:NM_021097:exon10:c.C2592T:p.D864D",NA,NA,NA,NA,NA,NA
chr2,56419948,56419948,C,T,R014_F,CCDC85A,Missense_Mutation,NM_001080433,exon2,c.C613T,p.R205W,SNP,SNVindel,exonic,CCDC85A,NA,nonsynonymous SNV,"CCDC85A:NM_001080433:exon2:c.C613T:p.R205W,CCDC85A:NM_001348512:exon2:c.C613T:p.R205W,CCDC85A:NM_001348513:exon2:c.C613T:p.R205W,CCDC85A:NM_001348514:exon2:c.C613T:p.R205W,CCDC85A:NM_001348515:exon2:c.C613T:p.R205W,CCDC85A:NM_001348516:exon2:c.C613T:p.R205W",D,D,D,.,D,T
chr2,110015264,110015264,G,A,R014_F,SH3RF3,Silent,NM_001099289,exon4,c.G1164A,p.T388T,SNP,SNVindel,exonic,SH3RF3,NA,synonymous SNV,SH3RF3:NM_001099289:exon4:c.G1164A:p.T388T,NA,NA,NA,NA,NA,NA
chr2,119699963,119699963,C,T,R014_F,MARCO,Silent,NM_006770,exon1,c.C87T,p.F29F,SNP,SNVindel,exonic,MARCO,NA,synonymous SNV,MARCO:NM_006770:exon1:c.C87T:p.F29F,NA,NA,NA,NA,NA,NA
chr2,136566277,136566277,C,T,R014_F,LCT,Missense_Mutation,NM_002299,exon8,c.G3640A,p.V1214M,SNP,SNVindel,exonic,LCT,NA,nonsynonymous SNV,LCT:NM_002299:exon8:c.G3640A:p.V1214M,T,D,D,T,N,T
chr2,141459349,141459349,C,G,R014_F,LRP1B,Missense_Mutation,NM_018557,exon40,c.G6368C,p.R2123T,SNP,SNVindel,exonic,LRP1B,NA,nonsynonymous SNV,LRP1B:NM_018557:exon40:c.G6368C:p.R2123T,T,U,D,D,D,D
chr2,152474871,152474871,C,T,R014_F,NEB,Missense_Mutation,NM_004543,exon71,c.G10265A,p.R3422H,SNP,SNVindel,exonic,NEB,NA,nonsynonymous SNV,"NEB:NM_004543:exon71:c.G10265A:p.R3422H,NEB:NM_001164507:exon74:c.G10994A:p.R3665H,NEB:NM_001164508:exon74:c.G10994A:p.R3665H,NEB:NM_001271208:exon74:c.G10994A:p.R3665H",T,N,N,T,N,T
chr2,152506804,152506804,C,T,R014_F,NEB,Silent,NM_001164507,exon54,c.G7317A,p.S2439S,SNP,SNVindel,exonic,NEB,NA,synonymous SNV,"NEB:NM_001164507:exon54:c.G7317A:p.S2439S,NEB:NM_001164508:exon54:c.G7317A:p.S2439S,NEB:NM_001271208:exon54:c.G7317A:p.S2439S,NEB:NM_004543:exon54:c.G7317A:p.S2439S",NA,NA,NA,NA,NA,NA
chr2,160604747,160604747,G,A,R014_F,MARCHF7,Missense_Mutation,NM_001282806,exon4,c.G778A,p.V260I,SNP,SNVindel,exonic,MARCHF7,NA,nonsynonymous SNV,"MARCHF7:NM_001282806:exon4:c.G778A:p.V260I,MARCHF7:NM_001282807:exon4:c.G832A:p.V278I,MARCHF7:NM_022826:exon5:c.G946A:p.V316I,MARCHF7:NM_001282805:exon7:c.G946A:p.V316I",T,N,N,T,N,T
chr2,168812060,168812060,C,T,R014_F,STK39,Silent,NM_013233,exon18,c.G1584A,p.S528S,SNP,SNVindel,exonic,STK39,NA,synonymous SNV,STK39:NM_013233:exon18:c.G1584A:p.S528S,NA,NA,NA,NA,NA,NA
chr2,188343466,188343466,G,A,R014_F,TFPI,Silent,NM_001032281,exon7,c.C693T,p.N231N,SNP,SNVindel,exonic,TFPI,NA,synonymous SNV,"TFPI:NM_001032281:exon7:c.C693T:p.N231N,TFPI:NM_001318941:exon8:c.C693T:p.N231N",NA,NA,NA,NA,NA,NA
chr2,197629397,197629397,C,G,R014_F,GTF3C3,Missense_Mutation,NM_012086,exon18,c.G2551C,p.D851H,SNP,SNVindel,exonic,GTF3C3,NA,nonsynonymous SNV,GTF3C3:NM_012086:exon18:c.G2551C:p.D851H,D,D,D,T,N,T
chr2,202339375,202339375,C,T,R014_F,STRADB,Silent,NM_001206864,exon6,c.C321T,p.A107A,SNP,SNVindel,exonic,STRADB,NA,synonymous SNV,"STRADB:NM_001206864:exon6:c.C321T:p.A107A,STRADB:NM_018571:exon6:c.C321T:p.A107A",NA,NA,NA,NA,NA,NA
chr2,210761059,210761059,C,T,R014_F,UNC80,Silent,NM_032504,exon27,c.C4305T,p.S1435S,SNP,SNVindel,exonic,UNC80,NA,synonymous SNV,"UNC80:NM_032504:exon27:c.C4305T:p.S1435S,UNC80:NM_182587:exon27:c.C4290T:p.S1430S",NA,NA,NA,NA,NA,NA
chr2,211518805,211518805,C,T,R014_F,CPS1,Silent,NM_001875,exon29,c.C3537T,p.D1179D,SNP,SNVindel,exonic,CPS1,NA,synonymous SNV,"CPS1:NM_001875:exon29:c.C3537T:p.D1179D,CPS1:NM_001122633:exon30:c.C3537T:p.D1179D,CPS1:NM_001369256:exon30:c.C3570T:p.D1190D,CPS1:NM_001369257:exon31:c.C3537T:p.D1179D",NA,NA,NA,NA,NA,NA
chr2,215928825,215928825,C,T,R014_F,ABCA12,Missense_Mutation,NM_173076,exon3,c.G281A,p.R94H,SNP,SNVindel,exonic,ABCA12,NA,nonsynonymous SNV,ABCA12:NM_173076:exon3:c.G281A:p.R94H,T,N,N,D,N,T
chr2,230910792,230910792,G,A,R014_F,SLC16A14,Silent,NM_152527,exon4,c.C1050T,p.N350N,SNP,SNVindel,exonic,SLC16A14,NA,synonymous SNV,SLC16A14:NM_152527:exon4:c.C1050T:p.N350N,NA,NA,NA,NA,NA,NA
chr2,233271808,233271808,G,A,R014_F,ALPG,Missense_Mutation,NM_031313,exon2,c.G109A,p.E37K,SNP,SNVindel,exonic,ALPG,NA,nonsynonymous SNV,ALPG:NM_031313:exon2:c.G109A:p.E37K,T,N,N,T,N,T
chr2,233422669,233422669,C,T,R014_F,EIF4E2,Missense_Mutation,NM_001276336,exon3,c.C211T,p.R71C,SNP,SNVindel,exonic,EIF4E2,NA,nonsynonymous SNV,"EIF4E2:NM_001276336:exon3:c.C211T:p.R71C,EIF4E2:NM_001282958:exon3:c.C211T:p.R71C,EIF4E2:NM_001330202:exon3:c.C196T:p.R66C,EIF4E2:NM_004846:exon3:c.C211T:p.R71C",D,D,D,T,D,T
chr2,237489298,237489298,G,A,R014_F,ACKR3,Missense_Mutation,NM_020311,exon2,c.G190A,p.V64M,SNP,SNVindel,exonic,ACKR3,NA,nonsynonymous SNV,ACKR3:NM_020311:exon2:c.G190A:p.V64M,T,D,D,T,N,T
chr2,242065855,242065855,C,T,R014_F,PASK,Silent,NM_001252119,exon10,c.G2475A,p.P825P,SNP,SNVindel,exonic,PASK,NA,synonymous SNV,"PASK:NM_001252119:exon10:c.G2475A:p.P825P,PASK:NM_001252122:exon10:c.G2370A:p.P790P,PASK:NM_001252124:exon10:c.G2475A:p.P825P,PASK:NM_015148:exon10:c.G2475A:p.P825P,PASK:NM_001252120:exon11:c.G2475A:p.P825P",NA,NA,NA,NA,NA,NA
chr3,4808230,4808230,G,A,R014_F,ITPR1,Missense_Mutation,NM_002222,exon41,c.G5372A,p.R1791H,SNP,SNVindel,exonic,ITPR1,NA,nonsynonymous SNV,"ITPR1:NM_002222:exon41:c.G5372A:p.R1791H,ITPR1:NM_001099952:exon42:c.G5417A:p.R1806H,ITPR1:NM_001168272:exon44:c.G5516A:p.R1839H",T,D,D,D,D,D
chr3,13679117,13679117,C,T,R014_F,FBLN2,Missense_Mutation,NM_001998,exon17,c.C3253T,p.R1085C,SNP,SNVindel,exonic,FBLN2,NA,nonsynonymous SNV,"FBLN2:NM_001998:exon17:c.C3253T:p.R1085C,FBLN2:NM_001004019:exon18:c.C3394T:p.R1132C,FBLN2:NM_001165035:exon18:c.C3394T:p.R1132C",D,D,D,T,D,D
chr3,32932738,32932738,C,T,R014_F,TRIM71,Missense_Mutation,NM_001039111,exon4,c.C2042T,p.T681M,SNP,SNVindel,exonic,TRIM71,NA,nonsynonymous SNV,TRIM71:NM_001039111:exon4:c.C2042T:p.T681M,D,D,D,D,D,D
chr3,36887799,36887799,C,T,R014_F,TRANK1,Missense_Mutation,NM_014831,exon16,c.G4999A,p.A1667T,SNP,SNVindel,exonic,TRANK1,NA,nonsynonymous SNV,"TRANK1:NM_014831:exon16:c.G4999A:p.A1667T,TRANK1:NM_001329998:exon17:c.G5131A:p.A1711T",T,D,D,D,N,D
chr3,52255239,52255239,G,A,R014_F,TLR9,Silent,NM_017442,exon2,c.C3093T,p.A1031A,SNP,SNVindel,exonic,TLR9,NA,synonymous SNV,TLR9:NM_017442:exon2:c.C3093T:p.A1031A,NA,NA,NA,NA,NA,NA
chr3,87017956,87017956,G,A,R014_F,VGLL3,Missense_Mutation,NM_001320493,exon3,c.C721T,p.R241C,SNP,SNVindel,exonic,VGLL3,NA,nonsynonymous SNV,"VGLL3:NM_001320493:exon3:c.C721T:p.R241C,VGLL3:NM_001320494:exon3:c.C562T:p.R188C,VGLL3:NM_016206:exon3:c.C721T:p.R241C",T,N,N,T,N,T
chr3,98002527,98002527,C,T,R014_F,OR5H2,Missense_Mutation,NM_001005482,exon1,c.C796T,p.R266C,SNP,SNVindel,exonic,OR5H2,NA,nonsynonymous SNV,OR5H2:NM_001005482:exon1:c.C796T:p.R266C,T,U,N,T,D,T
chr3,101044872,101044872,C,T,R014_F,SENP7,Missense_Mutation,NM_001282803,exon21,c.G2576A,p.R859H,SNP,SNVindel,exonic,SENP7,NA,nonsynonymous SNV,"SENP7:NM_001282803:exon21:c.G2576A:p.R859H,SENP7:NM_001077203:exon23:c.G2873A:p.R958H,SENP7:NM_001282801:exon23:c.G2870A:p.R957H,SENP7:NM_001282802:exon23:c.G2969A:p.R990H,SENP7:NM_020654:exon24:c.G3068A:p.R1023H",D,D,D,T,D,T
chr3,123633741,123633741,G,A,R014_F,CCDC14,Missense_Mutation,NM_001366336,exon9,c.C2147T,p.S716L,SNP,SNVindel,exonic,CCDC14,NA,nonsynonymous SNV,"CCDC14:NM_001366336:exon9:c.C2147T:p.S716L,CCDC14:NM_001366338:exon9:c.C1718T:p.S573L,CCDC14:NM_001366339:exon10:c.C2264T:p.S755L,CCDC14:NM_001366337:exon11:c.C2147T:p.S716L,CCDC14:NM_001308317:exon12:c.C2147T:p.S716L,CCDC14:NM_022757:exon12:c.C2480T:p.S827L,CCDC14:NM_001366335:exon13:c.C2603T:p.S868L",D,D,D,T,D,T
chr3,125824606,125824606,G,A,R014_F,ALDH1L1,Silent,NM_001270365,exon20,c.C2313T,p.F771F,SNP,SNVindel,exonic,ALDH1L1,NA,synonymous SNV,"ALDH1L1:NM_001270365:exon20:c.C2313T:p.F771F,ALDH1L1:NM_001270364:exon22:c.C2646T:p.F882F,ALDH1L1:NM_012190:exon22:c.C2616T:p.F872F",NA,NA,NA,NA,NA,NA
chr3,138426007,138426007,G,A,R014_F,PIK3CB,Silent,NM_001256045,exon1,c.C111T,p.F37F,SNP,SNVindel,exonic,PIK3CB,NA,synonymous SNV,"PIK3CB:NM_001256045:exon1:c.C111T:p.F37F,PIK3CB:NM_006219:exon11:c.C1524T:p.F508F",NA,NA,NA,NA,NA,NA
chr3,142840344,142840344,C,A,R014_F,CHST2,Missense_Mutation,NM_004267,exon2,c.C686A,p.S229Y,SNP,SNVindel,exonic,CHST2,NA,nonsynonymous SNV,CHST2:NM_004267:exon2:c.C686A:p.S229Y,T,N,D,T,D,D
chr3,168834247,168834247,G,A,R014_F,MECOM,Silent,NM_001105078,exon7,c.C849T,p.G283G,SNP,SNVindel,exonic,MECOM,NA,synonymous SNV,"MECOM:NM_001105078:exon7:c.C849T:p.G283G,MECOM:NM_001163999:exon7:c.C852T:p.G284G,MECOM:NM_001164000:exon7:c.C849T:p.G283G,MECOM:NM_001205194:exon7:c.C849T:p.G283G,MECOM:NM_001366467:exon7:c.C852T:p.G284G,MECOM:NM_001366468:exon7:c.C852T:p.G284G,MECOM:NM_001366469:exon7:c.C849T:p.G283G,MECOM:NM_001366470:exon7:c.C852T:p.G284G,MECOM:NM_001366471:exon7:c.C849T:p.G283G,MECOM:NM_001366472:exon7:c.C849T:p.G283G,MECOM:NM_005241:exon7:c.C849T:p.G283G,MECOM:NM_001105077:exon8:c.C1044T:p.G348G,MECOM:NM_001366466:exon8:c.C1413T:p.G471G,MECOM:NM_004991:exon8:c.C1413T:p.G471G",NA,NA,NA,NA,NA,NA
chr3,182871853,182871853,C,T,R014_F,LAMP3,Missense_Mutation,NM_014398,exon2,c.G376A,p.G126S,SNP,SNVindel,exonic,LAMP3,NA,nonsynonymous SNV,LAMP3:NM_014398:exon2:c.G376A:p.G126S,T,N,N,T,D,T
chr3,196736664,196736664,C,T,R014_F,MELTF,Silent,NM_005929,exon11,c.G1350A,p.S450S,SNP,SNVindel,exonic,MELTF,NA,synonymous SNV,MELTF:NM_005929:exon11:c.G1350A:p.S450S,NA,NA,NA,NA,NA,NA
chr4,4322711,4322711,C,T,R014_F,ZBTB49,Missense_Mutation,NM_001330625,exon8,c.C1966T,p.R656W,SNP,SNVindel,exonic,ZBTB49,NA,nonsynonymous SNV,"ZBTB49:NM_001330625:exon8:c.C1966T:p.R656W,ZBTB49:NM_145291:exon8:c.C1966T:p.R656W",D,N,N,T,N,T
chr4,20543241,20543241,C,T,R014_F,SLIT2,Silent,NM_001289135,exon19,c.C2130T,p.D710D,SNP,SNVindel,exonic,SLIT2,NA,synonymous SNV,"SLIT2:NM_001289135:exon19:c.C2130T:p.D710D,SLIT2:NM_001289136:exon19:c.C2118T:p.D706D,SLIT2:NM_004787:exon20:c.C2142T:p.D714D",NA,NA,NA,NA,NA,NA
chr4,20599945,20599945,G,A,R014_F,SLIT2,Missense_Mutation,NM_001289135,exon32,c.G3607A,p.A1203T,SNP,SNVindel,exonic,SLIT2,NA,nonsynonymous SNV,"SLIT2:NM_001289135:exon32:c.G3607A:p.A1203T,SLIT2:NM_001289136:exon32:c.G3595A:p.A1199T,SLIT2:NM_004787:exon33:c.G3619A:p.A1207T",D,D,D,T,D,D
chr4,37447964,37447964,G,C,R014_F,NWD2,Missense_Mutation,NM_001144990,exon7,c.G4354C,p.V1452L,SNP,SNVindel,exonic,NWD2,NA,nonsynonymous SNV,NWD2:NM_001144990:exon7:c.G4354C:p.V1452L,T,D,D,T,N,T
chr4,40440295,40440295,C,T,R014_F,RBM47,Missense_Mutation,NM_001371113,exon3,c.G616A,p.A206T,SNP,SNVindel,exonic,RBM47,NA,nonsynonymous SNV,"RBM47:NM_001371113:exon3:c.G616A:p.A206T,RBM47:NM_001371114:exon3:c.G502A:p.A168T,RBM47:NM_019027:exon3:c.G616A:p.A206T,RBM47:NM_001098634:exon4:c.G616A:p.A206T",T,D,D,T,D,T
chr4,47938625,47938625,C,T,R014_F,CNGA1,Missense_Mutation,NM_001142564,exon10,c.G2093A,p.R698Q,SNP,SNVindel,exonic,CNGA1,NA,nonsynonymous SNV,"CNGA1:NM_001142564:exon10:c.G2093A:p.R698Q,CNGA1:NM_000087:exon11:c.G1886A:p.R629Q",T,N,N,D,N,T
chr4,57182128,57182128,G,A,R014_F,KIAA1211,Silent,NM_020722,exon8,c.G2460A,p.S820S,SNP,SNVindel,exonic,KIAA1211,NA,synonymous SNV,KIAA1211:NM_020722:exon8:c.G2460A:p.S820S,NA,NA,NA,NA,NA,NA
chr4,69433683,69433683,G,A,R014_F,UGT2B17,Missense_Mutation,NM_001077,exon1,c.C520T,p.R174C,SNP,SNVindel,exonic,UGT2B17,NA,nonsynonymous SNV,UGT2B17:NM_001077:exon1:c.C520T:p.R174C,D,U,D,T,D,T
chr4,70512952,70512952,T,C,R014_F,UGT2A1,Silent,NM_001301239,exon1,c.A411G,p.A137A,SNP,SNVindel,exonic,UGT2A1,NA,synonymous SNV,"UGT2A1:NM_001301239:exon1:c.A411G:p.A137A,UGT2A1:NM_001252274:exon2:c.A411G:p.A137A,UGT2A1:NM_001252275:exon2:c.A411G:p.A137A,UGT2A1:NM_006798:exon2:c.A411G:p.A137A",NA,NA,NA,NA,NA,NA
chr4,72363290,72363290,G,A,R014_F,SLC4A4,Missense_Mutation,NM_003759,exon13,c.G1915A,p.G639R,SNP,SNVindel,exonic,SLC4A4,NA,nonsynonymous SNV,"SLC4A4:NM_003759:exon13:c.G1915A:p.G639R,SLC4A4:NM_001098484:exon16:c.G2047A:p.G683R,SLC4A4:NM_001134742:exon16:c.G2047A:p.G683R",D,D,D,T,D,D
chr4,76794285,76794285,G,A,R014_F,PPEF2,Missense_Mutation,NM_006239,exon12,c.C1501T,p.R501C,SNP,SNVindel,exonic,PPEF2,NA,nonsynonymous SNV,PPEF2:NM_006239:exon12:c.C1501T:p.R501C,D,D,D,T,D,T
chr4,76882183,76882183,G,A,R014_F,SDAD1,Missense_Mutation,NM_001288983,exon15,c.C1243T,p.R415W,SNP,SNVindel,exonic,SDAD1,NA,nonsynonymous SNV,"SDAD1:NM_001288983:exon15:c.C1243T:p.R415W,SDAD1:NM_001288984:exon16:c.C1063T:p.R355W,SDAD1:NM_018115:exon16:c.C1354T:p.R452W",D,D,D,T,D,T
chr4,79393392,79393392,C,T,R014_F,FRAS1,Missense_Mutation,NM_025074,exon52,c.C7430T,p.A2477V,SNP,SNVindel,exonic,FRAS1,NA,nonsynonymous SNV,FRAS1:NM_025074:exon52:c.C7430T:p.A2477V,.,N,N,.,.,T
chr4,79436970,79436970,G,T,R014_F,FRAS1,Missense_Mutation,NM_025074,exon66,c.G10192T,p.D3398Y,SNP,SNVindel,exonic,FRAS1,NA,nonsynonymous SNV,FRAS1:NM_025074:exon66:c.G10192T:p.D3398Y,.,D,D,.,.,T
chr4,88584463,88584463,C,T,R014_F,DMP1,Silent,NM_001079911,exon5,c.C1485T,p.D495D,SNP,SNVindel,exonic,DMP1,NA,synonymous SNV,"DMP1:NM_001079911:exon5:c.C1485T:p.D495D,DMP1:NM_004407:exon6:c.C1533T:p.D511D",NA,NA,NA,NA,NA,NA
chr4,88959641,88959641,G,A,R014_F,PKD2,Missense_Mutation,NM_000297,exon4,c.G1082A,p.R361Q,SNP,SNVindel,exonic,PKD2,NA,nonsynonymous SNV,PKD2:NM_000297:exon4:c.G1082A:p.R361Q,T,D,N,T,N,T
chr4,114823668,114823668,C,T,R014_F,ARSJ,Missense_Mutation,NM_001354210,exon2,c.G1562A,p.R521Q,SNP,SNVindel,exonic,ARSJ,NA,nonsynonymous SNV,"ARSJ:NM_001354210:exon2:c.G1562A:p.R521Q,ARSJ:NM_024590:exon2:c.G1562A:p.R521Q,ARSJ:NM_001354211:exon6:c.G1214A:p.R405Q",T,N,N,D,N,T
chr4,170674923,170674923,G,A,R014_F,HPF1,Nonsense_Mutation,NM_017867,exon2,c.C112T,p.R38X,SNP,SNVindel,exonic,HPF1,NA,stopgain,HPF1:NM_017867:exon2:c.C112T:p.R38X,.,D,A,.,.,.
chr5,13824330,13824330,C,T,R014_F,DNAH5,Missense_Mutation,NM_001369,exon39,c.G6557A,p.R2186Q,SNP,SNVindel,exonic,DNAH5,NA,nonsynonymous SNV,DNAH5:NM_001369:exon39:c.G6557A:p.R2186Q,D,D,D,T,D,T
chr5,19483505,19483505,C,T,R014_F,CDH18,Missense_Mutation,NM_001167667,exon12,c.G1678A,p.V560M,SNP,SNVindel,exonic,CDH18,NA,nonsynonymous SNV,"CDH18:NM_001167667:exon12:c.G1678A:p.V560M,CDH18:NM_001291957:exon12:c.G1681A:p.V561M,CDH18:NM_001349559:exon12:c.G1787A:p.R596H,CDH18:NM_001349560:exon12:c.G1681A:p.V561M,CDH18:NM_001349561:exon12:c.G1678A:p.V560M,CDH18:NM_004934:exon12:c.G1787A:p.R596H,CDH18:NM_001349556:exon13:c.G1787A:p.R596H,CDH18:NM_001349562:exon13:c.G1118A:p.R373H,CDH18:NM_001349563:exon13:c.G1118A:p.R373H,CDH18:NM_001291956:exon14:c.G1787A:p.R596H,CDH18:NM_001349558:exon15:c.G1787A:p.R596H",T,D,D,T,N,T
chr5,31468136,31468136,C,T,R014_F,DROSHA,Missense_Mutation,NM_001100412,exon17,c.G2165A,p.R722H,SNP,SNVindel,exonic,DROSHA,NA,nonsynonymous SNV,"DROSHA:NM_001100412:exon17:c.G2165A:p.R722H,DROSHA:NM_013235:exon17:c.G2276A:p.R759H",D,D,D,T,D,T
chr5,32074487,32074487,G,A,R014_F,PDZD2,Missense_Mutation,NM_178140,exon18,c.G3275A,p.R1092H,SNP,SNVindel,exonic,PDZD2,NA,nonsynonymous SNV,PDZD2:NM_178140:exon18:c.G3275A:p.R1092H,T,N,N,T,N,T
chr5,75886292,75886292,G,A,R014_F,IQGAP2,Missense_Mutation,NM_001285460,exon7,c.G550A,p.V184I,SNP,SNVindel,exonic,IQGAP2,NA,nonsynonymous SNV,"IQGAP2:NM_001285460:exon7:c.G550A:p.V184I,IQGAP2:NM_006633:exon8:c.G700A:p.V234I",T,N,D,T,N,T
chr5,121487948,121487948,C,T,R014_F,ZNF474,Missense_Mutation,NM_207317,exon2,c.C263T,p.P88L,SNP,SNVindel,exonic,ZNF474,NA,nonsynonymous SNV,ZNF474:NM_207317:exon2:c.C263T:p.P88L,D,N,D,T,D,T
chr5,129520560,129520560,C,T,R014_F,CHSY3,Silent,NM_175856,exon3,c.C1725T,p.T575T,SNP,SNVindel,exonic,CHSY3,NA,synonymous SNV,CHSY3:NM_175856:exon3:c.C1725T:p.T575T,NA,NA,NA,NA,NA,NA
chr5,140229205,140229205,C,T,R014_F,PCDHA9,Silent,NM_014005,exon1,c.C1125T,p.I375I,SNP,SNVindel,exonic,PCDHA9,NA,synonymous SNV,"PCDHA9:NM_014005:exon1:c.C1125T:p.I375I,PCDHA9:NM_031857:exon1:c.C1125T:p.I375I",NA,NA,NA,NA,NA,NA
chr5,140744742,140744742,G,A,R014_F,PCDHGA5,Missense_Mutation,NM_018918,exon1,c.G845A,p.R282H,SNP,SNVindel,exonic,PCDHGA5,NA,nonsynonymous SNV,"PCDHGA5:NM_018918:exon1:c.G845A:p.R282H,PCDHGA5:NM_032054:exon1:c.G845A:p.R282H",T,.,N,T,D,T
chr5,149918888,149918888,C,T,R014_F,NDST1,Silent,NM_001301063,exon7,c.C1536T,p.G512G,SNP,SNVindel,exonic,NDST1,NA,synonymous SNV,"NDST1:NM_001301063:exon7:c.C1536T:p.G512G,NDST1:NM_001543:exon7:c.C1536T:p.G512G",NA,NA,NA,NA,NA,NA
chr5,153030051,153030051,C,T,R014_F,GRIA1,Missense_Mutation,NM_001258019,exon3,c.C382T,p.R128C,SNP,SNVindel,exonic,GRIA1,NA,nonsynonymous SNV,"GRIA1:NM_001258019:exon3:c.C382T:p.R128C,GRIA1:NM_000827:exon4:c.C622T:p.R208C,GRIA1:NM_001114183:exon4:c.C622T:p.R208C,GRIA1:NM_001258021:exon4:c.C652T:p.R218C,GRIA1:NM_001258022:exon4:c.C652T:p.R218C,GRIA1:NM_001258023:exon4:c.C415T:p.R139C,GRIA1:NM_001364165:exon4:c.C622T:p.R208C,GRIA1:NM_001364167:exon4:c.C415T:p.R139C,GRIA1:NM_001258020:exon5:c.C337T:p.R113C,GRIA1:NM_001364166:exon5:c.C649T:p.R217C",D,D,D,D,D,D
chr5,166802371,166802371,G,T,R014_F,TENM2,Missense_Mutation,NM_001122679,exon3,c.G395T,p.W132L,SNP,SNVindel,exonic,TENM2,NA,nonsynonymous SNV,TENM2:NM_001122679:exon3:c.G395T:p.W132L,D,.,D,T,D,T
chr5,168189645,168189645,G,A,R014_F,SLIT3,Silent,NM_001271946,exon15,c.C1509T,p.L503L,SNP,SNVindel,exonic,SLIT3,NA,synonymous SNV,"SLIT3:NM_001271946:exon15:c.C1509T:p.L503L,SLIT3:NM_003062:exon15:c.C1509T:p.L503L",NA,NA,NA,NA,NA,NA
chr5,177422855,177422855,G,A,R014_F,PROP1,Missense_Mutation,NM_006261,exon1,c.C80T,p.P27L,SNP,SNVindel,exonic,PROP1,NA,nonsynonymous SNV,PROP1:NM_006261:exon1:c.C80T:p.P27L,T,N,N,D,D,T
chr5,179264550,179264550,G,A,R014_F,MRNIP,Silent,NM_001017987,exon5,c.C708T,p.P236P,SNP,SNVindel,exonic,MRNIP,NA,synonymous SNV,"MRNIP:NM_001017987:exon5:c.C708T:p.P236P,MRNIP:NM_016175:exon7:c.C873T:p.P291P",NA,NA,NA,NA,NA,NA
chr6,348863,348863,G,A,R014_F,DUSP22,Missense_Mutation,NM_001286555,exon7,c.G530A,p.R177H,SNP,SNVindel,exonic,DUSP22,NA,nonsynonymous SNV,DUSP22:NM_001286555:exon7:c.G530A:p.R177H,.,.,N,T,.,.
chr6,33626839,33626839,C,T,R014_F,ITPR3,Silent,NM_002224,exon6,c.C570T,p.A190A,SNP,SNVindel,exonic,ITPR3,NA,synonymous SNV,ITPR3:NM_002224:exon6:c.C570T:p.A190A,NA,NA,NA,NA,NA,NA
chr6,36336753,36336753,G,A,R014_F,ETV7,Nonsense_Mutation,NM_001207041,exon4,c.C307T,p.R103X,SNP,SNVindel,exonic,ETV7,NA,stopgain,"ETV7:NM_001207041:exon4:c.C307T:p.R103X,ETV7:NM_001207036:exon5:c.C595T:p.R199X,ETV7:NM_001207038:exon5:c.C529T:p.R177X,ETV7:NM_001207039:exon5:c.C595T:p.R199X,ETV7:NM_001207040:exon5:c.C517T:p.R173X,ETV7:NM_001207035:exon6:c.C760T:p.R254X,ETV7:NM_001207037:exon6:c.C583T:p.R195X,ETV7:NM_016135:exon6:c.C760T:p.R254X",.,U,A,.,.,.
chr6,52770626,52770626,C,T,R014_F,GSTA3,Missense_Mutation,NM_000847,exon2,c.G7A,p.G3R,SNP,SNVindel,exonic,GSTA3,NA,nonsynonymous SNV,GSTA3:NM_000847:exon2:c.G7A:p.G3R,D,N,D,T,D,T
chr6,80721185,80721185,C,T,R014_F,TTK,Silent,NM_001166691,exon6,c.C648T,p.S216S,SNP,SNVindel,exonic,TTK,NA,synonymous SNV,"TTK:NM_001166691:exon6:c.C648T:p.S216S,TTK:NM_003318:exon6:c.C648T:p.S216S",NA,NA,NA,NA,NA,NA
chr6,116757244,116757244,G,A,R014_F,DSE,Missense_Mutation,NM_001080976,exon6,c.G1613A,p.R538Q,SNP,SNVindel,exonic,DSE,NA,nonsynonymous SNV,"DSE:NM_001080976:exon6:c.G1613A:p.R538Q,DSE:NM_001322939:exon6:c.G1670A:p.R557Q,DSE:NM_001322941:exon6:c.G1052A:p.R351Q,DSE:NM_013352:exon6:c.G1613A:p.R538Q,DSE:NM_001322937:exon7:c.G1613A:p.R538Q,DSE:NM_001322938:exon7:c.G1613A:p.R538Q,DSE:NM_001322940:exon7:c.G1052A:p.R351Q",T,D,D,T,N,T
chr6,158348187,158348187,G,A,R014_F,SNX9,Silent,NM_016224,exon11,c.G1125A,p.A375A,SNP,SNVindel,exonic,SNX9,NA,synonymous SNV,SNX9:NM_016224:exon11:c.G1125A:p.A375A,NA,NA,NA,NA,NA,NA
chr7,1578833,1578833,C,T,R014_F,MAFK,Missense_Mutation,NM_002360,exon2,c.C5T,p.T2M,SNP,SNVindel,exonic,MAFK,NA,nonsynonymous SNV,MAFK:NM_002360:exon2:c.C5T:p.T2M,D,D,D,D,N,T
chr7,6026863,6026863,C,T,R014_F,PMS2,Silent,NM_001322008,exon9,c.G1215A,p.T405T,SNP,SNVindel,exonic,PMS2,NA,synonymous SNV,"PMS2:NM_001322008:exon9:c.G1215A:p.T405T,PMS2:NM_001322010:exon9:c.G972A:p.T324T,PMS2:NM_001322004:exon10:c.G1128A:p.T376T,PMS2:NM_001322006:exon10:c.G1377A:p.T459T,PMS2:NM_001322007:exon10:c.G1215A:p.T405T,PMS2:NM_001322013:exon10:c.G960A:p.T320T,PMS2:NM_000535:exon11:c.G1533A:p.T511T,PMS2:NM_001322003:exon11:c.G1128A:p.T376T,PMS2:NM_001322005:exon11:c.G1128A:p.T376T,PMS2:NM_001322009:exon11:c.G1128A:p.T376T,PMS2:NM_001322011:exon11:c.G600A:p.T200T,PMS2:NM_001322012:exon11:c.G600A:p.T200T,PMS2:NM_001322014:exon11:c.G1533A:p.T511T,PMS2:NM_001322015:exon11:c.G1224A:p.T408T",NA,NA,NA,NA,NA,NA
chr7,22202100,22202100,C,T,R014_F,RAPGEF5,Missense_Mutation,NM_001367600,exon3,c.G434A,p.R145H,SNP,SNVindel,exonic,RAPGEF5,NA,nonsynonymous SNV,"RAPGEF5:NM_001367600:exon3:c.G434A:p.R145H,RAPGEF5:NM_001367601:exon3:c.G434A:p.R145H,RAPGEF5:NM_001367603:exon3:c.G434A:p.R145H,RAPGEF5:NM_001367602:exon6:c.G98A:p.R33H,RAPGEF5:NM_012294:exon13:c.G1343A:p.R448H",D,D,D,T,D,T
chr7,23830457,23830457,G,A,R014_F,STK31,Silent,NM_001260504,exon22,c.G2583A,p.S861S,SNP,SNVindel,exonic,STK31,NA,synonymous SNV,"STK31:NM_001260504:exon22:c.G2583A:p.S861S,STK31:NM_001260505:exon22:c.G2652A:p.S884S,STK31:NM_031414:exon22:c.G2652A:p.S884S,STK31:NM_032944:exon22:c.G2583A:p.S861S",NA,NA,NA,NA,NA,NA
chr7,27872483,27872483,C,T,R014_F,JAZF1,Missense_Mutation,NM_175061,exon5,c.G668A,p.R223Q,SNP,SNVindel,exonic,JAZF1,NA,nonsynonymous SNV,JAZF1:NM_175061:exon5:c.G668A:p.R223Q,D,D,D,T,N,D
chr7,29132262,29132262,G,A,R014_F,CPVL,Silent,NM_001371268,exon6,c.C339T,p.D113D,SNP,SNVindel,exonic,CPVL,NA,synonymous SNV,"CPVL:NM_001371268:exon6:c.C339T:p.D113D,CPVL:NM_019029:exon6:c.C519T:p.D173D,CPVL:NM_031311:exon6:c.C519T:p.D173D,CPVL:NM_001348054:exon7:c.C519T:p.D173D,CPVL:NM_001371261:exon7:c.C519T:p.D173D,CPVL:NM_001371262:exon7:c.C519T:p.D173D,CPVL:NM_001348052:exon8:c.C519T:p.D173D,CPVL:NM_001371258:exon9:c.C519T:p.D173D,CPVL:NM_001371263:exon9:c.C519T:p.D173D,CPVL:NM_001371264:exon9:c.C519T:p.D173D,CPVL:NM_001371256:exon10:c.C519T:p.D173D,CPVL:NM_001371260:exon10:c.C519T:p.D173D,CPVL:NM_001371265:exon10:c.C309T:p.D103D,CPVL:NM_001371266:exon10:c.C309T:p.D103D,CPVL:NM_001371267:exon10:c.C309T:p.D103D,CPVL:NM_001371257:exon11:c.C519T:p.D173D,CPVL:NM_001371255:exon12:c.C519T:p.D173D",NA,NA,NA,NA,NA,NA
chr7,30494850,30494850,G,A,R014_F,NOD1,Silent,NM_001354849,exon5,c.C279T,p.L93L,SNP,SNVindel,exonic,NOD1,NA,synonymous SNV,"NOD1:NM_001354849:exon5:c.C279T:p.L93L,NOD1:NM_006092:exon5:c.C279T:p.L93L",NA,NA,NA,NA,NA,NA
chr7,33397476,33397476,G,A,R014_F,BBS9,Missense_Mutation,NM_001348044,exon12,c.G1091A,p.R364Q,SNP,SNVindel,exonic,BBS9,NA,nonsynonymous SNV,"BBS9:NM_001348044:exon12:c.G1091A:p.R364Q,BBS9:NM_001348046:exon13:c.G1196A:p.R399Q,BBS9:NM_001348040:exon14:c.G1442A:p.R481Q,BBS9:NM_001348045:exon14:c.G1196A:p.R399Q,BBS9:NM_014451:exon14:c.G1442A:p.R481Q,BBS9:NM_001033604:exon15:c.G1457A:p.R486Q,BBS9:NM_001033605:exon15:c.G1547A:p.R516Q,BBS9:NM_001348037:exon15:c.G1196A:p.R399Q,BBS9:NM_001348039:exon15:c.G1184A:p.R395Q,BBS9:NM_001348042:exon15:c.G1427A:p.R476Q,BBS9:NM_001348036:exon16:c.G1562A:p.R521Q,BBS9:NM_001348038:exon16:c.G1289A:p.R430Q,BBS9:NM_001348041:exon16:c.G1562A:p.R521Q,BBS9:NM_001348043:exon16:c.G1562A:p.R521Q,BBS9:NM_001362679:exon16:c.G1562A:p.R521Q,BBS9:NM_198428:exon16:c.G1562A:p.R521Q",D,D,D,T,D,T
chr7,40356364,40356364,G,A,R014_F,SUGCT,Silent,NM_001193312,exon8,c.G603A,p.A201A,SNP,SNVindel,exonic,SUGCT,NA,synonymous SNV,"SUGCT:NM_001193312:exon8:c.G603A:p.A201A,SUGCT:NM_001193311:exon9:c.G747A:p.A249A,SUGCT:NM_001193313:exon9:c.G747A:p.A249A,SUGCT:NM_024728:exon9:c.G636A:p.A212A",NA,NA,NA,NA,NA,NA
chr7,44189586,44189586,G,A,R014_F,GCK,Silent,NM_000162,exon5,c.C561T,p.D187D,SNP,SNVindel,exonic,GCK,NA,synonymous SNV,"GCK:NM_000162:exon5:c.C561T:p.D187D,GCK:NM_001354800:exon5:c.C561T:p.D187D,GCK:NM_033507:exon5:c.C564T:p.D188D,GCK:NM_033508:exon6:c.C558T:p.D186D",NA,NA,NA,NA,NA,NA
chr7,48428800,48428800,C,T,R014_F,ABCA13,Silent,NM_152701,exon37,c.C11637T,p.A3879A,SNP,SNVindel,exonic,ABCA13,NA,synonymous SNV,ABCA13:NM_152701:exon37:c.C11637T:p.A3879A,NA,NA,NA,NA,NA,NA
chr7,86574311,86574311,G,A,R014_F,KIAA1324L,Silent,NM_152748,exon3,c.C57T,p.C19C,SNP,SNVindel,exonic,KIAA1324L,NA,synonymous SNV,"KIAA1324L:NM_152748:exon3:c.C57T:p.C19C,KIAA1324L:NM_001142749:exon4:c.C558T:p.C186C,KIAA1324L:NM_001291990:exon4:c.C216T:p.C72C",NA,NA,NA,NA,NA,NA
chr7,98551020,98551020,C,T,R014_F,TRRAP,Silent,NM_003496,exon38,c.C5619T,p.I1873I,SNP,SNVindel,exonic,TRRAP,NA,synonymous SNV,"TRRAP:NM_003496:exon38:c.C5619T:p.I1873I,TRRAP:NM_001244580:exon39:c.C5673T:p.I1891I",NA,NA,NA,NA,NA,NA
chr7,99473693,99473693,G,A,R014_F,OR2AE1,Nonsense_Mutation,NM_001005276,exon1,c.C964T,p.R322X,SNP,SNVindel,exonic,OR2AE1,NA,stopgain,OR2AE1:NM_001005276:exon1:c.C964T:p.R322X,.,.,N,.,.,.
chr7,100030692,100030692,C,T,R014_F,MEPCE,Missense_Mutation,NM_019606,exon2,c.C1822T,p.R608C,SNP,SNVindel,exonic,MEPCE,NA,nonsynonymous SNV,"MEPCE:NM_019606:exon2:c.C1822T:p.R608C,MEPCE:NM_001194990:exon3:c.C415T:p.R139C,MEPCE:NM_001194991:exon3:c.C415T:p.R139C,MEPCE:NM_001194992:exon3:c.C415T:p.R139C,MEPCE:NM_001363486:exon3:c.C415T:p.R139C",D,D,D,T,D,T
chr7,100086075,100086075,C,T,R014_F,NYAP1,Missense_Mutation,NM_173564,exon4,c.C731T,p.P244L,SNP,SNVindel,exonic,NYAP1,NA,nonsynonymous SNV,NYAP1:NM_173564:exon4:c.C731T:p.P244L,D,N,D,T,N,T
chr7,100687017,100687017,C,T,R014_F,MUC17,Missense_Mutation,NM_001040105,exon3,c.C12320T,p.T4107M,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.C12320T:p.T4107M,D,.,N,T,N,T
chr7,100687031,100687031,G,A,R014_F,MUC17,Missense_Mutation,NM_001040105,exon3,c.G12334A,p.A4112T,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.G12334A:p.A4112T,T,.,N,T,N,T
chr7,101989019,101989019,C,T,R014_F,SPDYE6,Missense_Mutation,NM_001146210,exon6,c.G854A,p.R285H,SNP,SNVindel,exonic,SPDYE6,NA,nonsynonymous SNV,SPDYE6:NM_001146210:exon6:c.G854A:p.R285H,.,.,.,.,.,.
chr7,106508823,106508823,C,T,R014_F,PIK3CG,Missense_Mutation,NM_001282426,exon2,c.C817T,p.R273C,SNP,SNVindel,exonic,PIK3CG,NA,nonsynonymous SNV,"PIK3CG:NM_001282426:exon2:c.C817T:p.R273C,PIK3CG:NM_001282427:exon2:c.C817T:p.R273C,PIK3CG:NM_002649:exon2:c.C817T:p.R273C",D,D,D,T,D,D
chr7,113518730,113518730,C,T,R014_F,PPP1R3A,Missense_Mutation,NM_002711,exon4,c.G2417A,p.R806H,SNP,SNVindel,exonic,PPP1R3A,NA,nonsynonymous SNV,PPP1R3A:NM_002711:exon4:c.G2417A:p.R806H,T,N,N,T,N,T
chr7,116849980,116849980,C,T,R014_F,ST7,Missense_Mutation,NM_001369600,exon12,c.C1196T,p.T399M,SNP,SNVindel,exonic,ST7,NA,nonsynonymous SNV,"ST7:NM_001369600:exon12:c.C1196T:p.T399M,ST7:NM_001369603:exon12:c.C1187T:p.T396M,ST7:NM_001369604:exon12:c.C1325T:p.T442M,ST7:NM_018412:exon12:c.C1325T:p.T442M,ST7:NM_001369598:exon13:c.C1394T:p.T465M,ST7:NM_001369599:exon13:c.C1265T:p.T422M,ST7:NM_001369602:exon13:c.C1256T:p.T419M,ST7:NM_001369607:exon13:c.C1175T:p.T392M,ST7:NM_021908:exon13:c.C1394T:p.T465M,ST7:NM_001369606:exon14:c.C1244T:p.T415M",D,D,D,T,D,T
chr7,131911005,131911005,C,T,R014_F,PLXNA4,Missense_Mutation,NM_020911,exon8,c.G1897A,p.V633I,SNP,SNVindel,exonic,PLXNA4,NA,nonsynonymous SNV,PLXNA4:NM_020911:exon8:c.G1897A:p.V633I,D,D,D,T,N,T
chr7,132192441,132192441,C,T,R014_F,PLXNA4,Missense_Mutation,NM_001105543,exon2,c.G1012A,p.V338I,SNP,SNVindel,exonic,PLXNA4,NA,nonsynonymous SNV,"PLXNA4:NM_001105543:exon2:c.G1012A:p.V338I,PLXNA4:NM_020911:exon2:c.G1012A:p.V338I,PLXNA4:NM_181775:exon3:c.G1012A:p.V338I",T,U,D,T,N,T
chr7,135122949,135122949,C,T,R014_F,CNOT4,Missense_Mutation,NM_001008225,exon2,c.G131A,p.R44Q,SNP,SNVindel,exonic,CNOT4,NA,nonsynonymous SNV,"CNOT4:NM_001008225:exon2:c.G131A:p.R44Q,CNOT4:NM_001190847:exon2:c.G131A:p.R44Q,CNOT4:NM_001190848:exon2:c.G131A:p.R44Q,CNOT4:NM_001190849:exon2:c.G131A:p.R44Q,CNOT4:NM_001190850:exon2:c.G131A:p.R44Q,CNOT4:NM_013316:exon2:c.G131A:p.R44Q",T,D,D,D,D,D
chr7,138845785,138845785,C,T,R014_F,TTC26,Missense_Mutation,NM_001321742,exon8,c.C809T,p.P270L,SNP,SNVindel,exonic,TTC26,NA,nonsynonymous SNV,TTC26:NM_001321742:exon8:c.C809T:p.P270L,D,.,N,.,N,T
chr7,138946482,138946482,C,T,R014_F,UBN2,Missense_Mutation,NM_173569,exon6,c.C1390T,p.R464C,SNP,SNVindel,exonic,UBN2,NA,nonsynonymous SNV,UBN2:NM_173569:exon6:c.C1390T:p.R464C,D,D,D,T,D,T
chr7,140125765,140125765,G,A,R014_F,RAB19,Missense_Mutation,NM_001008749,exon4,c.G469A,p.V157I,SNP,SNVindel,exonic,RAB19,NA,nonsynonymous SNV,RAB19:NM_001008749:exon4:c.G469A:p.V157I,T,D,D,T,N,T
chr7,150696323,150696323,G,A,R014_F,NOS3,Silent,NM_001160109,exon8,c.G1002A,p.P334P,SNP,SNVindel,exonic,NOS3,NA,synonymous SNV,"NOS3:NM_001160109:exon8:c.G1002A:p.P334P,NOS3:NM_001160110:exon8:c.G1002A:p.P334P,NOS3:NM_001160111:exon8:c.G1002A:p.P334P,NOS3:NM_000603:exon9:c.G1002A:p.P334P",NA,NA,NA,NA,NA,NA
chr7,150767126,150767126,G,A,R014_F,SLC4A2,Missense_Mutation,NM_001199693,exon8,c.G1213A,p.E405K,SNP,SNVindel,exonic,SLC4A2,NA,nonsynonymous SNV,"SLC4A2:NM_001199693:exon8:c.G1213A:p.E405K,SLC4A2:NM_001199694:exon8:c.G1198A:p.E400K,SLC4A2:NM_001199692:exon9:c.G1240A:p.E414K,SLC4A2:NM_003040:exon9:c.G1240A:p.E414K",D,D,D,T,N,T
chr7,157926575,157926575,C,G,R014_F,PTPRN2,Missense_Mutation,NM_001308267,exon8,c.G1236C,p.Q412H,SNP,SNVindel,exonic,PTPRN2,NA,nonsynonymous SNV,"PTPRN2:NM_001308267:exon8:c.G1236C:p.Q412H,PTPRN2:NM_130842:exon8:c.G1299C:p.Q433H,PTPRN2:NM_001308268:exon9:c.G1419C:p.Q473H,PTPRN2:NM_002847:exon9:c.G1350C:p.Q450H,PTPRN2:NM_130843:exon9:c.G1350C:p.Q450H",D,U,N,T,N,T
chr7,157931026,157931026,C,T,R014_F,PTPRN2,Silent,NM_001308267,exon6,c.G978A,p.A326A,SNP,SNVindel,exonic,PTPRN2,NA,synonymous SNV,"PTPRN2:NM_001308267:exon6:c.G978A:p.A326A,PTPRN2:NM_130842:exon6:c.G1041A:p.A347A,PTPRN2:NM_001308268:exon7:c.G1161A:p.A387A,PTPRN2:NM_002847:exon7:c.G1092A:p.A364A,PTPRN2:NM_130843:exon7:c.G1092A:p.A364A",NA,NA,NA,NA,NA,NA
chr7,158738346,158738346,C,T,R014_F,WDR60,Missense_Mutation,NM_001350915,exon24,c.C2504T,p.A835V,SNP,SNVindel,exonic,WDR60,NA,nonsynonymous SNV,"WDR60:NM_001350915:exon24:c.C2504T:p.A835V,WDR60:NM_001350916:exon24:c.C1616T:p.A539V,WDR60:NM_001350914:exon25:c.C2939T:p.A980V,WDR60:NM_018051:exon25:c.C3077T:p.A1026V,WDR60:NM_001350917:exon26:c.C1829T:p.A610V,WDR60:NM_001350918:exon27:c.C1829T:p.A610V",T,N,N,T,N,T
chr8,27321003,27321003,C,T,R014_F,CHRNA2,Silent,NM_000742,exon6,c.G957A,p.P319P,SNP,SNVindel,exonic,CHRNA2,NA,synonymous SNV,"CHRNA2:NM_000742:exon6:c.G957A:p.P319P,CHRNA2:NM_001282455:exon6:c.G912A:p.P304P,CHRNA2:NM_001347705:exon6:c.G480A:p.P160P,CHRNA2:NM_001347706:exon6:c.G480A:p.P160P,CHRNA2:NM_001347708:exon6:c.G363A:p.P121P,CHRNA2:NM_001347707:exon7:c.G363A:p.P121P",NA,NA,NA,NA,NA,NA
chr8,37732636,37732636,G,A,R014_F,RAB11FIP1,Missense_Mutation,NM_001002814,exon3,c.C1019T,p.P340L,SNP,SNVindel,exonic,RAB11FIP1,NA,nonsynonymous SNV,"RAB11FIP1:NM_001002814:exon3:c.C1019T:p.P340L,RAB11FIP1:NM_025151:exon3:c.C1019T:p.P340L",D,N,N,T,D,T
chr8,42977946,42977946,G,A,R014_F,POMK,Missense_Mutation,NM_001277971,exon4,c.G979A,p.V327I,SNP,SNVindel,exonic,POMK,NA,nonsynonymous SNV,"POMK:NM_001277971:exon4:c.G979A:p.V327I,POMK:NM_032237:exon5:c.G979A:p.V327I",T,N,N,T,N,T
chr8,43028884,43028884,G,A,R014_F,HGSNAT,Silent,NM_001363227,exon9,c.G849A,p.P283P,SNP,SNVindel,exonic,HGSNAT,NA,synonymous SNV,"HGSNAT:NM_001363227:exon9:c.G849A:p.P283P,HGSNAT:NM_152419:exon9:c.G849A:p.P283P",NA,NA,NA,NA,NA,NA
chr8,56436013,56436013,G,T,R014_F,XKR4,Missense_Mutation,NM_052898,exon3,c.G1180T,p.A394S,SNP,SNVindel,exonic,XKR4,NA,nonsynonymous SNV,XKR4:NM_052898:exon3:c.G1180T:p.A394S,D,D,D,T,D,T
chr8,87242353,87242353,C,T,R014_F,SLC7A13,Missense_Mutation,NM_138817,exon1,c.G154A,p.V52I,SNP,SNVindel,exonic,SLC7A13,NA,nonsynonymous SNV,SLC7A13:NM_138817:exon1:c.G154A:p.V52I,T,N,N,D,N,T
chr8,98718924,98718924,C,T,R014_F,MTDH,Silent,NM_001363139,exon6,c.C1053T,p.D351D,SNP,SNVindel,exonic,MTDH,NA,synonymous SNV,"MTDH:NM_001363139:exon6:c.C1053T:p.D351D,MTDH:NM_001363136:exon7:c.C1152T:p.D384D,MTDH:NM_001363138:exon7:c.C1119T:p.D373D,MTDH:NM_178812:exon8:c.C1218T:p.D406D,MTDH:NM_001363137:exon9:c.C1308T:p.D436D",NA,NA,NA,NA,NA,NA
chr8,133885382,133885382,C,T,R014_F,TG,Missense_Mutation,NM_003235,exon5,c.C554T,p.A185V,SNP,SNVindel,exonic,TG,NA,nonsynonymous SNV,TG:NM_003235:exon5:c.C554T:p.A185V,D,N,N,D,N,T
chr8,145010115,145010115,G,A,R014_F,PLEC,Missense_Mutation,NM_201378,exon6,c.C461T,p.S154L,SNP,SNVindel,exonic,PLEC,NA,nonsynonymous SNV,"PLEC:NM_201378:exon6:c.C461T:p.S154L,PLEC:NM_201379:exon6:c.C437T:p.S146L,PLEC:NM_201380:exon6:c.C914T:p.S305L,PLEC:NM_201381:exon6:c.C407T:p.S136L,PLEC:NM_201382:exon6:c.C503T:p.S168L,PLEC:NM_201383:exon6:c.C515T:p.S172L,PLEC:NM_201384:exon6:c.C503T:p.S168L,PLEC:NM_000445:exon7:c.C584T:p.S195L",D,U,D,D,D,D
chr9,8500831,8500831,C,T,R014_F,PTPRD,Missense_Mutation,NM_002839,exon24,c.G2051A,p.R684Q,SNP,SNVindel,exonic,PTPRD,NA,nonsynonymous SNV,PTPRD:NM_002839:exon24:c.G2051A:p.R684Q,T,N,D,T,N,T
chr9,16215869,16215869,C,T,R014_F,C9orf92,Missense_Mutation,NM_001271829,exon2,c.G91A,p.E31K,SNP,SNVindel,exonic,C9orf92,NA,nonsynonymous SNV,C9orf92:NM_001271829:exon2:c.G91A:p.E31K,.,N,.,T,D,T
chr9,16436033,16436033,C,T,R014_F,BNC2,Missense_Mutation,NM_001317939,exon5,c.G2033A,p.R678Q,SNP,SNVindel,exonic,BNC2,NA,nonsynonymous SNV,"BNC2:NM_001317939:exon5:c.G2033A:p.R678Q,BNC2:NM_001317940:exon5:c.G1874A:p.R625Q,BNC2:NM_017637:exon6:c.G2159A:p.R720Q",D,D,D,T,N,T
chr9,18776919,18776919,C,T,R014_F,ADAMTSL1,Missense_Mutation,NM_001040272,exon19,c.C2692T,p.R898C,SNP,SNVindel,exonic,ADAMTSL1,NA,nonsynonymous SNV,ADAMTSL1:NM_001040272:exon19:c.C2692T:p.R898C,D,U,D,T,D,T
chr9,32418469,32418469,G,A,R014_F,ACO1,Silent,NM_002197,exon6,c.G618A,p.S206S,SNP,SNVindel,exonic,ACO1,NA,synonymous SNV,"ACO1:NM_002197:exon6:c.G618A:p.S206S,ACO1:NM_001278352:exon7:c.G618A:p.S206S,ACO1:NM_001362840:exon7:c.G618A:p.S206S",NA,NA,NA,NA,NA,NA
chr9,33386091,33386091,C,T,R014_F,AQP7,Missense_Mutation,NM_001318156,exon5,c.G338A,p.R113Q,SNP,SNVindel,exonic,AQP7,NA,nonsynonymous SNV,"AQP7:NM_001318156:exon5:c.G338A:p.R113Q,AQP7:NM_001170:exon6:c.G509A:p.R170Q,AQP7:NM_001318157:exon6:c.G506A:p.R169Q,AQP7:NM_001318158:exon6:c.G509A:p.R170Q",T,N,D,D,N,T
chr9,35661071,35661071,C,T,R014_F,CCDC107,Missense_Mutation,NM_174923,exon5,c.C739T,p.R247W,SNP,SNVindel,exonic,CCDC107,NA,nonsynonymous SNV,"CCDC107:NM_174923:exon5:c.C739T:p.R247W,CCDC107:NM_001195200:exon6:c.C658T:p.R220W",T,N,N,T,N,T
chr9,37733588,37733588,C,T,R014_F,FRMPD1,Nonsense_Mutation,NM_001371223,exon11,c.C1114T,p.R372X,SNP,SNVindel,exonic,FRMPD1,NA,stopgain,"FRMPD1:NM_001371223:exon11:c.C1114T:p.R372X,FRMPD1:NM_001371225:exon11:c.C1114T:p.R372X,FRMPD1:NM_014907:exon11:c.C1114T:p.R372X,FRMPD1:NM_001371224:exon12:c.C1114T:p.R372X",.,D,A,.,.,.
chr9,71628016,71628016,G,A,R014_F,PRKACG,Silent,NM_002732,exon1,c.C993T,p.Y331Y,SNP,SNVindel,exonic,PRKACG,NA,synonymous SNV,PRKACG:NM_002732:exon1:c.C993T:p.Y331Y,NA,NA,NA,NA,NA,NA
chr9,71854882,71854882,G,A,R014_F,TJP2,Silent,NM_001170415,exon17,c.G2397A,p.P799P,SNP,SNVindel,exonic,TJP2,NA,synonymous SNV,"TJP2:NM_001170415:exon17:c.G2397A:p.P799P,TJP2:NM_001170416:exon17:c.G2478A:p.P826P,TJP2:NM_001369872:exon17:c.G2385A:p.P795P,TJP2:NM_001369873:exon17:c.G2385A:p.P795P,TJP2:NM_001369874:exon17:c.G2397A:p.P799P,TJP2:NM_001369875:exon17:c.G2397A:p.P799P,TJP2:NM_004817:exon17:c.G2385A:p.P795P,TJP2:NM_201629:exon17:c.G2385A:p.P795P,TJP2:NM_001170414:exon18:c.G2316A:p.P772P,TJP2:NM_001369870:exon18:c.G2310A:p.P770P,TJP2:NM_001369871:exon19:c.G2316A:p.P772P",NA,NA,NA,NA,NA,NA
chr9,86587008,86587008,C,T,R014_F,HNRNPK,Missense_Mutation,NM_001318186,exon10,c.G670A,p.G224R,SNP,SNVindel,exonic,HNRNPK,NA,nonsynonymous SNV,"HNRNPK:NM_001318186:exon10:c.G670A:p.G224R,HNRNPK:NM_001318187:exon10:c.G670A:p.G224R,HNRNPK:NM_001318188:exon11:c.G742A:p.G248R,HNRNPK:NM_002140:exon11:c.G742A:p.G248R,HNRNPK:NM_031262:exon11:c.G742A:p.G248R,HNRNPK:NM_031263:exon11:c.G742A:p.G248R",T,N,D,T,D,T
chr9,95875297,95875297,C,T,R014_F,CARD19,Missense_Mutation,NM_001318010,exon4,c.C257T,p.P86L,SNP,SNVindel,exonic,CARD19,NA,nonsynonymous SNV,"CARD19:NM_001318010:exon4:c.C257T:p.P86L,CARD19:NM_001318011:exon5:c.C400T:p.R134W,CARD19:NM_032310:exon6:c.C460T:p.R154W",D,N,D,.,D,T
chr9,96051347,96051347,G,A,R014_F,WNK2,Silent,NM_006648,exon19,c.G4311A,p.A1437A,SNP,SNVindel,exonic,WNK2,NA,synonymous SNV,"WNK2:NM_006648:exon19:c.G4311A:p.A1437A,WNK2:NM_001282394:exon20:c.G4422A:p.A1474A",NA,NA,NA,NA,NA,NA
chr9,96320127,96320127,G,A,R014_F,FAM120A,Missense_Mutation,NM_001286722,exon14,c.G2500A,p.V834I,SNP,SNVindel,exonic,FAM120A,NA,nonsynonymous SNV,"FAM120A:NM_001286722:exon14:c.G2500A:p.V834I,FAM120A:NM_014612:exon14:c.G2503A:p.V835I",D,D,D,T,N,T
chr9,101536250,101536250,G,A,R014_F,ANKS6,Missense_Mutation,NM_173551,exon9,c.C1730T,p.T577M,SNP,SNVindel,exonic,ANKS6,NA,nonsynonymous SNV,ANKS6:NM_173551:exon9:c.C1730T:p.T577M,T,N,N,T,N,T
chr9,101810117,101810117,G,A,R014_F,COL15A1,Missense_Mutation,NM_001855,exon27,c.G2729A,p.R910Q,SNP,SNVindel,exonic,COL15A1,NA,nonsynonymous SNV,COL15A1:NM_001855:exon27:c.G2729A:p.R910Q,T,D,D,T,D,T
chr9,104324532,104324532,G,A,R014_F,RNF20,Missense_Mutation,NM_019592,exon20,c.G2756A,p.R919H,SNP,SNVindel,exonic,RNF20,NA,nonsynonymous SNV,RNF20:NM_019592:exon20:c.G2756A:p.R919H,T,D,D,T,N,T
chr9,117838321,117838321,G,A,R014_F,TNC,Silent,NM_002160,exon9,c.C2940T,p.N980N,SNP,SNVindel,exonic,TNC,NA,synonymous SNV,TNC:NM_002160:exon9:c.C2940T:p.N980N,NA,NA,NA,NA,NA,NA
chr9,125273593,125273593,G,A,R014_F,OR1J2,Silent,NM_054107,exon1,c.G513A,p.A171A,SNP,SNVindel,exonic,OR1J2,NA,synonymous SNV,OR1J2:NM_054107:exon1:c.G513A:p.A171A,NA,NA,NA,NA,NA,NA
chr9,127101942,127101942,G,A,R014_F,NEK6,Missense_Mutation,NM_001166167,exon8,c.G769A,p.E257K,SNP,SNVindel,exonic,NEK6,NA,nonsynonymous SNV,"NEK6:NM_001166167:exon8:c.G769A:p.E257K,NEK6:NM_001166168:exon8:c.G715A:p.E239K,NEK6:NM_001166169:exon8:c.G790A:p.E264K,NEK6:NM_001166170:exon8:c.G715A:p.E239K,NEK6:NM_014397:exon8:c.G715A:p.E239K,NEK6:NM_001145001:exon9:c.G817A:p.E273K,NEK6:NM_001166171:exon9:c.G817A:p.E273K",D,D,D,T,D,D
chr9,132630492,132630492,G,A,R014_F,USP20,Missense_Mutation,NM_001008563,exon11,c.G899A,p.R300H,SNP,SNVindel,exonic,USP20,NA,nonsynonymous SNV,"USP20:NM_001008563:exon11:c.G899A:p.R300H,USP20:NM_001110303:exon11:c.G899A:p.R300H,USP20:NM_006676:exon11:c.G899A:p.R300H",T,N,N,T,N,T
chr9,133901791,133901791,G,A,R014_F,LAMC3,Missense_Mutation,NM_006059,exon2,c.G493A,p.A165T,SNP,SNVindel,exonic,LAMC3,NA,nonsynonymous SNV,LAMC3:NM_006059:exon2:c.G493A:p.A165T,D,D,D,T,D,T
chr9,134183576,134183576,G,A,R014_F,PLPP7,Missense_Mutation,NM_032728,exon2,c.G718A,p.V240I,SNP,SNVindel,exonic,PLPP7,NA,nonsynonymous SNV,PLPP7:NM_032728:exon2:c.G718A:p.V240I,D,D,D,D,N,D
chr9,135863790,135863790,G,A,R014_F,GFI1B,Missense_Mutation,NM_001135031,exon4,c.G445A,p.A149T,SNP,SNVindel,exonic,GFI1B,NA,nonsynonymous SNV,"GFI1B:NM_001135031:exon4:c.G445A:p.A149T,GFI1B:NM_004188:exon8:c.G445A:p.A149T",T,D,N,T,N,T
chr9,136217105,136217105,C,T,R014_F,RPL7A,Silent,NM_000972,exon5,c.C426T,p.T142T,SNP,SNVindel,exonic,RPL7A,NA,synonymous SNV,RPL7A:NM_000972:exon5:c.C426T:p.T142T,NA,NA,NA,NA,NA,NA
chr9,140058343,140058343,G,A,R014_F,GRIN1,Missense_Mutation,NM_000832,exon18,c.G2576A,p.R859Q,SNP,SNVindel,exonic,GRIN1,NA,nonsynonymous SNV,"GRIN1:NM_000832:exon18:c.G2576A:p.R859Q,GRIN1:NM_007327:exon18:c.G2576A:p.R859Q,GRIN1:NM_021569:exon18:c.G2576A:p.R859Q,GRIN1:NM_001185090:exon19:c.G2639A:p.R880Q,GRIN1:NM_001185091:exon19:c.G2639A:p.R880Q",D,D,D,T,D,D
chr9,140417287,140417287,G,A,R014_F,PNPLA7,Missense_Mutation,NM_152286,exon8,c.C695T,p.T232M,SNP,SNVindel,exonic,PNPLA7,NA,nonsynonymous SNV,"PNPLA7:NM_152286:exon8:c.C695T:p.T232M,PNPLA7:NM_001098537:exon9:c.C770T:p.T257M",D,D,D,D,D,D
chr10,3189802,3189802,C,T,R014_F,PITRM1,Missense_Mutation,NM_001242309,exon16,c.G1903A,p.A635T,SNP,SNVindel,exonic,PITRM1,NA,nonsynonymous SNV,"PITRM1:NM_001242309:exon16:c.G1903A:p.A635T,PITRM1:NM_001347725:exon17:c.G1999A:p.A667T,PITRM1:NM_001347726:exon17:c.G1384A:p.A462T,PITRM1:NM_001347730:exon17:c.G1975A:p.A659T,PITRM1:NM_001242307:exon19:c.G2200A:p.A734T,PITRM1:NM_001347727:exon19:c.G1582A:p.A528T,PITRM1:NM_001347728:exon19:c.G892A:p.A298T,PITRM1:NM_001347729:exon19:c.G2173A:p.A725T,PITRM1:NM_014889:exon19:c.G2197A:p.A733T",T,N,N,T,N,T
chr10,13542000,13542000,G,A,R014_F,BEND7,Nonsense_Mutation,NM_001100912,exon2,c.C70T,p.R24X,SNP,SNVindel,exonic,BEND7,NA,stopgain,"BEND7:NM_001100912:exon2:c.C70T:p.R24X,BEND7:NM_001370075:exon2:c.C70T:p.R24X,BEND7:NM_001369863:exon3:c.C226T:p.R76X,BEND7:NM_152751:exon3:c.C70T:p.R24X",.,D,A,.,.,.
chr10,61959914,61959914,G,A,R014_F,ANK3,Silent,NM_001204404,exon13,c.C1413T,p.D471D,SNP,SNVindel,exonic,ANK3,NA,synonymous SNV,"ANK3:NM_001204404:exon13:c.C1413T:p.D471D,ANK3:NM_001320874:exon13:c.C1464T:p.D488D,ANK3:NM_020987:exon13:c.C1464T:p.D488D,ANK3:NM_001204403:exon14:c.C1446T:p.D482D",NA,NA,NA,NA,NA,NA
chr10,72298656,72298656,C,T,R014_F,PALD1,Silent,NM_014431,exon13,c.C1461T,p.D487D,SNP,SNVindel,exonic,PALD1,NA,synonymous SNV,PALD1:NM_014431:exon13:c.C1461T:p.D487D,NA,NA,NA,NA,NA,NA
chr10,98803234,98803234,G,A,R014_F,SLIT1,Silent,NM_003061,exon19,c.C1890T,p.N630N,SNP,SNVindel,exonic,SLIT1,NA,synonymous SNV,SLIT1:NM_003061:exon19:c.C1890T:p.N630N,NA,NA,NA,NA,NA,NA
chr10,102056784,102056784,G,A,R014_F,PKD2L1,Missense_Mutation,NM_001253837,exon6,c.C997T,p.R333C,SNP,SNVindel,exonic,PKD2L1,NA,nonsynonymous SNV,"PKD2L1:NM_001253837:exon6:c.C997T:p.R333C,PKD2L1:NM_016112:exon6:c.C1138T:p.R380C",T,N,N,D,N,D
chr10,115338409,115338409,G,A,R014_F,HABP2,Missense_Mutation,NM_001177660,exon7,c.G514A,p.D172N,SNP,SNVindel,exonic,HABP2,NA,nonsynonymous SNV,"HABP2:NM_001177660:exon7:c.G514A:p.D172N,HABP2:NM_004132:exon7:c.G592A:p.D198N",T,D,D,D,N,T
chr10,124457810,124457810,C,T,R014_F,C10orf120,Silent,NM_001010912,exon3,c.G447A,p.A149A,SNP,SNVindel,exonic,C10orf120,NA,synonymous SNV,C10orf120:NM_001010912:exon3:c.G447A:p.A149A,NA,NA,NA,NA,NA,NA
chr10,126716163,126716163,G,A,R014_F,CTBP2,Nonsense_Mutation,NM_022802,exon1,c.C166T,p.R56X,SNP,SNVindel,exonic,CTBP2,NA,stopgain,CTBP2:NM_022802:exon1:c.C166T:p.R56X,.,N,A,.,.,.
chr10,128926011,128926011,C,T,R014_F,DOCK1,Nonsense_Mutation,NM_001290223,exon27,c.C2830T,p.R944X,SNP,SNVindel,exonic,DOCK1,NA,stopgain,"DOCK1:NM_001290223:exon27:c.C2830T:p.R944X,DOCK1:NM_001380:exon27:c.C2767T:p.R923X",.,D,A,.,.,.
chr10,135015094,135015094,C,T,R014_F,KNDC1,Missense_Mutation,NM_152643,exon17,c.C3079T,p.R1027W,SNP,SNVindel,exonic,KNDC1,NA,nonsynonymous SNV,KNDC1:NM_152643:exon17:c.C3079T:p.R1027W,D,N,N,T,D,T
chr11,320606,320606,G,T,R014_F,IFITM3,Missense_Mutation,NM_021034,exon1,c.C208A,p.P70T,SNP,SNVindel,exonic,IFITM3,NA,nonsynonymous SNV,IFITM3:NM_021034:exon1:c.C208A:p.P70T,T,.,N,T,N,T
chr11,1263495,1263495,C,T,R014_F,MUC5B,Silent,NM_002458,exon31,c.C5385T,p.D1795D,SNP,SNVindel,exonic,MUC5B,NA,synonymous SNV,MUC5B:NM_002458:exon31:c.C5385T:p.D1795D,NA,NA,NA,NA,NA,NA
chr11,32954363,32954363,C,T,R014_F,QSER1,Missense_Mutation,NM_001076786,exon4,c.C1559T,p.T520M,SNP,SNVindel,exonic,QSER1,NA,nonsynonymous SNV,QSER1:NM_001076786:exon4:c.C1559T:p.T520M,D,U,D,T,N,T
chr11,59992462,59992462,C,T,R014_F,MS4A4E,Silent,NM_001351235,exon4,c.G210A,p.A70A,SNP,SNVindel,exonic,MS4A4E,NA,synonymous SNV,MS4A4E:NM_001351235:exon4:c.G210A:p.A70A,NA,NA,NA,NA,NA,NA
chr11,63965415,63965415,G,A,R014_F,STIP1,Missense_Mutation,NM_001282652,exon8,c.G1133A,p.R378Q,SNP,SNVindel,exonic,STIP1,NA,nonsynonymous SNV,"STIP1:NM_001282652:exon8:c.G1133A:p.R378Q,STIP1:NM_001282653:exon8:c.G920A:p.R307Q,STIP1:NM_006819:exon8:c.G992A:p.R331Q",D,D,D,T,D,T
chr11,66436539,66436539,G,A,R014_F,RBM4B,Silent,NM_031492,exon3,c.C636T,p.N212N,SNP,SNVindel,exonic,RBM4B,NA,synonymous SNV,RBM4B:NM_031492:exon3:c.C636T:p.N212N,NA,NA,NA,NA,NA,NA
chr11,68174017,68174017,C,T,R014_F,LRP5,Silent,NM_001291902,exon9,c.C84T,p.N28N,SNP,SNVindel,exonic,LRP5,NA,synonymous SNV,"LRP5:NM_001291902:exon9:c.C84T:p.N28N,LRP5:NM_002335:exon9:c.C1827T:p.N609N",NA,NA,NA,NA,NA,NA
chr11,71507186,71507186,T,C,R014_F,FAM86C1,Missense_Mutation,NM_152563,exon3,c.T283C,p.C95R,SNP,SNVindel,exonic,FAM86C1,NA,nonsynonymous SNV,"FAM86C1:NM_152563:exon3:c.T283C:p.C95R,FAM86C1:NM_001099653:exon4:c.T364C:p.C122R,FAM86C1:NM_018172:exon4:c.T385C:p.C129R",T,.,N,T,N,T
chr11,74648036,74648036,G,A,R014_F,XRRA1,Missense_Mutation,NM_001270380,exon4,c.C172T,p.R58C,SNP,SNVindel,exonic,XRRA1,NA,nonsynonymous SNV,"XRRA1:NM_001270380:exon4:c.C172T:p.R58C,XRRA1:NM_182969:exon4:c.C172T:p.R58C",T,N,N,T,N,T
chr11,77386183,77386183,G,A,R014_F,RSF1,Missense_Mutation,NM_016578,exon14,c.C3460T,p.R1154W,SNP,SNVindel,exonic,RSF1,NA,nonsynonymous SNV,RSF1:NM_016578:exon14:c.C3460T:p.R1154W,D,N,D,D,D,D
chr11,104819265,104819265,G,A,R014_F,CASP4,Missense_Mutation,NM_001225,exon6,c.C920T,p.T307M,SNP,SNVindel,exonic,CASP4,NA,nonsynonymous SNV,"CASP4:NM_001225:exon6:c.C920T:p.T307M,CASP4:NM_033306:exon7:c.C752T:p.T251M",D,D,D,T,D,T
chr11,116692294,116692294,G,A,R014_F,APOA4,Silent,NM_000482,exon3,c.C480T,p.Y160Y,SNP,SNVindel,exonic,APOA4,NA,synonymous SNV,APOA4:NM_000482:exon3:c.C480T:p.Y160Y,NA,NA,NA,NA,NA,NA
chr11,119149376,119149376,C,T,R014_F,CBL,Nonsense_Mutation,NM_005188,exon9,c.C1384T,p.R462X,SNP,SNVindel,exonic,CBL,NA,stopgain,CBL:NM_005188:exon9:c.C1384T:p.R462X,.,D,A,.,.,.
chr11,119549183,119549183,G,A,R014_F,NECTIN1,Silent,NM_002855,exon2,c.C372T,p.C124C,SNP,SNVindel,exonic,NECTIN1,NA,synonymous SNV,"NECTIN1:NM_002855:exon2:c.C372T:p.C124C,NECTIN1:NM_203285:exon2:c.C372T:p.C124C,NECTIN1:NM_203286:exon2:c.C372T:p.C124C",NA,NA,NA,NA,NA,NA
chr11,120117192,120117192,G,A,R014_F,POU2F3,Silent,NM_001244682,exon2,c.G69A,p.T23T,SNP,SNVindel,exonic,POU2F3,NA,synonymous SNV,"POU2F3:NM_001244682:exon2:c.G69A:p.T23T,POU2F3:NM_014352:exon2:c.G63A:p.T21T",NA,NA,NA,NA,NA,NA
chr11,130278698,130278698,G,A,R014_F,ADAMTS8,Missense_Mutation,NM_007037,exon7,c.C1888T,p.R630W,SNP,SNVindel,exonic,ADAMTS8,NA,nonsynonymous SNV,ADAMTS8:NM_007037:exon7:c.C1888T:p.R630W,D,D,D,T,D,T
chr12,319066,319066,G,A,R014_F,SLC6A12,Silent,NM_001206931,exon2,c.C87T,p.D29D,SNP,SNVindel,exonic,SLC6A12,NA,synonymous SNV,"SLC6A12:NM_001206931:exon2:c.C87T:p.D29D,SLC6A12:NM_001122847:exon3:c.C87T:p.D29D,SLC6A12:NM_001122848:exon3:c.C87T:p.D29D,SLC6A12:NM_003044:exon4:c.C87T:p.D29D",NA,NA,NA,NA,NA,NA
chr12,7188498,7188498,G,A,R014_F,C1R,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,C1R,NA,unknown,UNKNOWN,D,N,D,D,D,D
chr12,9020828,9020828,G,A,R014_F,A2ML1,Silent,NM_001282424,exon20,c.G2463A,p.T821T,SNP,SNVindel,exonic,A2ML1,NA,synonymous SNV,"A2ML1:NM_001282424:exon20:c.G2463A:p.T821T,A2ML1:NM_144670:exon31:c.G3936A:p.T1312T",NA,NA,NA,NA,NA,NA
chr12,13716208,13716208,C,T,R014_F,GRIN2B,Missense_Mutation,NM_000834,exon13,c.G3964A,p.V1322I,SNP,SNVindel,exonic,GRIN2B,NA,nonsynonymous SNV,GRIN2B:NM_000834:exon13:c.G3964A:p.V1322I,.,D,D,.,.,T
chr12,13716673,13716673,C,T,R014_F,GRIN2B,Missense_Mutation,NM_000834,exon13,c.G3499A,p.V1167I,SNP,SNVindel,exonic,GRIN2B,NA,nonsynonymous SNV,GRIN2B:NM_000834:exon13:c.G3499A:p.V1167I,.,N,N,.,.,T
chr12,40076912,40076912,G,A,R014_F,C12orf40,Missense_Mutation,NM_001031748,exon8,c.G1186A,p.D396N,SNP,SNVindel,exonic,C12orf40,NA,nonsynonymous SNV,"C12orf40:NM_001031748:exon8:c.G1186A:p.D396N,C12orf40:NM_001319247:exon8:c.G1186A:p.D396N",D,N,N,T,D,T
chr12,53509273,53509273,G,A,R014_F,SOAT2,Silent,NM_003578,exon6,c.G543A,p.P181P,SNP,SNVindel,exonic,SOAT2,NA,synonymous SNV,SOAT2:NM_003578:exon6:c.G543A:p.P181P,NA,NA,NA,NA,NA,NA
chr12,69965940,69965940,G,A,R014_F,FRS2,Missense_Mutation,NM_001278357,exon6,c.G455A,p.R152Q,SNP,SNVindel,exonic,FRS2,NA,nonsynonymous SNV,"FRS2:NM_001278357:exon6:c.G455A:p.R152Q,FRS2:NM_001278356:exon8:c.G455A:p.R152Q,FRS2:NM_001042555:exon9:c.G455A:p.R152Q,FRS2:NM_001278354:exon9:c.G455A:p.R152Q,FRS2:NM_001278355:exon9:c.G455A:p.R152Q,FRS2:NM_006654:exon9:c.G455A:p.R152Q,FRS2:NM_001278351:exon10:c.G455A:p.R152Q,FRS2:NM_001278353:exon10:c.G455A:p.R152Q",T,D,D,T,N,T
chr12,96350699,96350699,C,T,R014_F,AMDHD1,Silent,NM_152435,exon4,c.C546T,p.I182I,SNP,SNVindel,exonic,AMDHD1,NA,synonymous SNV,AMDHD1:NM_152435:exon4:c.C546T:p.I182I,NA,NA,NA,NA,NA,NA
chr12,96640978,96640978,C,T,R014_F,ELK3,Silent,NM_005230,exon3,c.C468T,p.D156D,SNP,SNVindel,exonic,ELK3,NA,synonymous SNV,ELK3:NM_005230:exon3:c.C468T:p.D156D,NA,NA,NA,NA,NA,NA
chr12,100926354,100926354,A,C,R014_F,NR1H4,Missense_Mutation,NM_001206992,exon3,c.A594C,p.K198N,SNP,SNVindel,exonic,NR1H4,NA,nonsynonymous SNV,"NR1H4:NM_001206992:exon3:c.A594C:p.K198N,NR1H4:NM_001206993:exon3:c.A594C:p.K198N,NR1H4:NM_001206979:exon5:c.A564C:p.K188N,NR1H4:NM_005123:exon5:c.A564C:p.K188N,NR1H4:NM_001206977:exon6:c.A564C:p.K188N",D,D,D,D,D,D
chr12,104720179,104720179,G,A,R014_F,TXNRD1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TXNRD1,NA,unknown,UNKNOWN,T,N,D,T,N,T
chr12,112924344,112924344,C,T,R014_F,PTPN11,Silent,NM_001330437,exon11,c.C1302T,p.S434S,SNP,SNVindel,exonic,PTPN11,NA,synonymous SNV,"PTPN11:NM_001330437:exon11:c.C1302T:p.S434S,PTPN11:NM_002834:exon11:c.C1290T:p.S430S,PTPN11:NM_080601:exon11:c.C1290T:p.S430S",NA,NA,NA,NA,NA,NA
chr12,123187428,123187428,C,T,R014_F,HCAR2,Missense_Mutation,NM_177551,exon1,c.G403A,p.A135T,SNP,SNVindel,exonic,HCAR2,NA,nonsynonymous SNV,HCAR2:NM_177551:exon1:c.G403A:p.A135T,T,N,N,T,N,T
chr12,124289426,124289426,C,T,R014_F,DNAH10,Silent,NM_207437,exon17,c.C2472T,p.D824D,SNP,SNVindel,exonic,DNAH10,NA,synonymous SNV,DNAH10:NM_207437:exon17:c.C2472T:p.D824D,NA,NA,NA,NA,NA,NA
chr13,24444333,24444333,C,T,R014_F,MIPEP,Missense_Mutation,NM_005932,exon6,c.G605A,p.R202H,SNP,SNVindel,exonic,MIPEP,NA,nonsynonymous SNV,MIPEP:NM_005932:exon6:c.G605A:p.R202H,T,D,D,T,D,T
chr13,39564810,39564810,C,T,R014_F,STOML3,Missense_Mutation,NM_145286,exon1,c.G49A,p.V17M,SNP,SNVindel,exonic,STOML3,NA,nonsynonymous SNV,STOML3:NM_145286:exon1:c.G49A:p.V17M,T,N,D,D,N,D
chr13,48955538,48955538,C,T,R014_F,RB1,Nonsense_Mutation,NM_000321,exon17,c.C1654T,p.R552X,SNP,SNVindel,exonic,RB1,NA,stopgain,RB1:NM_000321:exon17:c.C1654T:p.R552X,.,D,A,.,.,.
chr13,111145564,111145564,C,T,R014_F,COL4A2,Missense_Mutation,NM_001846,exon39,c.C3569T,p.P1190L,SNP,SNVindel,exonic,COL4A2,NA,nonsynonymous SNV,COL4A2:NM_001846:exon39:c.C3569T:p.P1190L,D,N,D,D,D,D
chr13,111372159,111372159,C,T,R014_F,ING1,Silent,NM_001267728,exon2,c.C669T,p.C223C,SNP,SNVindel,exonic,ING1,NA,synonymous SNV,"ING1:NM_001267728:exon2:c.C669T:p.C223C,ING1:NM_005537:exon2:c.C1149T:p.C383C,ING1:NM_198217:exon2:c.C588T:p.C196C,ING1:NM_198218:exon2:c.C513T:p.C171C,ING1:NM_198219:exon2:c.C720T:p.C240C",NA,NA,NA,NA,NA,NA
chr13,114164655,114164655,G,A,R014_F,TMCO3,Missense_Mutation,NM_001349742,exon6,c.G949A,p.V317I,SNP,SNVindel,exonic,TMCO3,NA,nonsynonymous SNV,"TMCO3:NM_001349742:exon6:c.G949A:p.V317I,TMCO3:NM_001349745:exon6:c.G949A:p.V317I,TMCO3:NM_001349741:exon7:c.G1141A:p.V381I,TMCO3:NM_001349744:exon7:c.G1141A:p.V381I,TMCO3:NM_017905:exon7:c.G1141A:p.V381I",T,D,D,T,N,T
chr13,114817583,114817583,C,T,R014_F,RASA3,Missense_Mutation,NM_001320822,exon3,c.G125A,p.R42H,SNP,SNVindel,exonic,RASA3,NA,nonsynonymous SNV,"RASA3:NM_001320822:exon3:c.G125A:p.R42H,RASA3:NM_007368:exon3:c.G221A:p.R74H",D,D,D,T,N,T
chr14,24842913,24842913,G,A,R014_F,NFATC4,Silent,NM_001198965,exon5,c.G1572A,p.A524A,SNP,SNVindel,exonic,NFATC4,NA,synonymous SNV,"NFATC4:NM_001198965:exon5:c.G1572A:p.A524A,NFATC4:NM_001198966:exon5:c.G1362A:p.A454A,NFATC4:NM_001288802:exon5:c.G1536A:p.A512A,NFATC4:NM_001363681:exon5:c.G1536A:p.A512A,NFATC4:NM_001363682:exon5:c.G1536A:p.A512A,NFATC4:NM_004554:exon5:c.G1572A:p.A524A,NFATC4:NM_001136022:exon6:c.G1761A:p.A587A,NFATC4:NM_001198967:exon6:c.G1761A:p.A587A,NFATC4:NM_001320043:exon6:c.G1761A:p.A587A",NA,NA,NA,NA,NA,NA
chr14,61952287,61952287,G,A,R014_F,PRKCH,Missense_Mutation,NM_006255,exon10,c.G1346A,p.R449H,SNP,SNVindel,exonic,PRKCH,NA,nonsynonymous SNV,PRKCH:NM_006255:exon10:c.G1346A:p.R449H,T,D,D,T,D,T
chr14,64988841,64988841,C,T,R014_F,ZBTB1,Missense_Mutation,NM_001123329,exon2,c.C619T,p.R207C,SNP,SNVindel,exonic,ZBTB1,NA,nonsynonymous SNV,"ZBTB1:NM_001123329:exon2:c.C619T:p.R207C,ZBTB1:NM_014950:exon2:c.C619T:p.R207C",D,N,D,T,N,T
chr14,72054797,72054797,G,A,R014_F,SIPA1L1,Missense_Mutation,NM_001284246,exon2,c.G208A,p.G70R,SNP,SNVindel,exonic,SIPA1L1,NA,nonsynonymous SNV,"SIPA1L1:NM_001284246:exon2:c.G208A:p.G70R,SIPA1L1:NM_001284247:exon4:c.G208A:p.G70R,SIPA1L1:NM_001354285:exon5:c.G208A:p.G70R,SIPA1L1:NM_001354287:exon5:c.G208A:p.G70R,SIPA1L1:NM_001354288:exon5:c.G208A:p.G70R,SIPA1L1:NM_001354286:exon6:c.G208A:p.G70R,SIPA1L1:NM_001284245:exon7:c.G208A:p.G70R,SIPA1L1:NM_015556:exon7:c.G208A:p.G70R",D,D,D,T,N,D
chr14,93303771,93303771,C,T,R014_F,GOLGA5,Nonsense_Mutation,NM_005113,exon12,c.C2092T,p.R698X,SNP,SNVindel,exonic,GOLGA5,NA,stopgain,GOLGA5:NM_005113:exon12:c.C2092T:p.R698X,.,D,D,.,.,.
chr14,96769478,96769478,G,A,R014_F,ATG2B,Missense_Mutation,NM_018036,exon33,c.C4957T,p.R1653C,SNP,SNVindel,exonic,ATG2B,NA,nonsynonymous SNV,ATG2B:NM_018036:exon33:c.C4957T:p.R1653C,D,D,D,T,D,T
chr14,96944944,96944944,C,T,R014_F,AK7,Silent,NM_001350892,exon13,c.C1500T,p.D500D,SNP,SNVindel,exonic,AK7,NA,synonymous SNV,"AK7:NM_001350892:exon13:c.C1500T:p.D500D,AK7:NM_001350888:exon14:c.C1629T:p.D543D,AK7:NM_001350890:exon14:c.C1629T:p.D543D,AK7:NM_001350891:exon14:c.C1620T:p.D540D,AK7:NM_152327:exon15:c.C1698T:p.D566D",NA,NA,NA,NA,NA,NA
chr14,105413936,105413936,C,T,R014_F,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.G7552A,p.V2518I,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.G7552A:p.V2518I,AHNAK2:NM_138420:exon7:c.G7852A:p.V2618I",T,.,N,T,N,T
chr14,105419434,105419434,G,A,R014_F,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.C2054T,p.A685V,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.C2054T:p.A685V,AHNAK2:NM_138420:exon7:c.C2354T:p.A785V",T,.,N,T,N,T
chr14,105518013,105518013,C,T,R014_F,GPR132,Missense_Mutation,NM_001278695,exon3,c.G434A,p.R145H,SNP,SNVindel,exonic,GPR132,NA,nonsynonymous SNV,"GPR132:NM_001278695:exon3:c.G434A:p.R145H,GPR132:NM_013345:exon4:c.G461A:p.R154H,GPR132:NM_001278694:exon5:c.G461A:p.R154H",D,D,D,T,D,D
chr15,29090698,29090698,C,T,R014_F,GOLGA6L7,Missense_Mutation,NM_001365371,exon6,c.G439A,p.A147T,SNP,SNVindel,exonic,GOLGA6L7,NA,nonsynonymous SNV,GOLGA6L7:NM_001365371:exon6:c.G439A:p.A147T,NA,NA,NA,NA,NA,NA
chr15,59499292,59499292,G,A,R014_F,LDHAL6B,Silent,NM_033195,exon1,c.G153A,p.A51A,SNP,SNVindel,exonic,LDHAL6B,NA,synonymous SNV,LDHAL6B:NM_033195:exon1:c.G153A:p.A51A,NA,NA,NA,NA,NA,NA
chr15,74326847,74326847,G,A,R014_F,PML,Silent,NM_033249,exon6,c.G1542A,p.S514S,SNP,SNVindel,exonic,PML,NA,synonymous SNV,"PML:NM_033249:exon6:c.G1542A:p.S514S,PML:NM_033250:exon6:c.G1542A:p.S514S,PML:NM_002675:exon7:c.G1686A:p.S562S,PML:NM_033238:exon7:c.G1686A:p.S562S,PML:NM_033239:exon7:c.G1686A:p.S562S,PML:NM_033240:exon7:c.G1686A:p.S562S",NA,NA,NA,NA,NA,NA
chr15,89386832,89386832,C,T,R014_F,ACAN,Missense_Mutation,NM_001135,exon6,c.C1004T,p.T335M,SNP,SNVindel,exonic,ACAN,NA,nonsynonymous SNV,"ACAN:NM_001135:exon6:c.C1004T:p.T335M,ACAN:NM_001369268:exon6:c.C1004T:p.T335M,ACAN:NM_013227:exon6:c.C1004T:p.T335M",D,N,D,T,D,T
chr15,92459273,92459273,C,T,R014_F,SLCO3A1,Silent,NM_001145044,exon2,c.C231T,p.D77D,SNP,SNVindel,exonic,SLCO3A1,NA,synonymous SNV,"SLCO3A1:NM_001145044:exon2:c.C231T:p.D77D,SLCO3A1:NM_013272:exon2:c.C231T:p.D77D",NA,NA,NA,NA,NA,NA
chr15,99828097,99828097,G,A,R014_F,LRRC28,Missense_Mutation,NM_001284400,exon5,c.G326A,p.R109H,SNP,SNVindel,exonic,LRRC28,NA,nonsynonymous SNV,"LRRC28:NM_001284400:exon5:c.G326A:p.R109H,LRRC28:NM_001321675:exon5:c.G326A:p.R109H,LRRC28:NM_001321676:exon5:c.G326A:p.R109H,LRRC28:NM_001321677:exon5:c.G326A:p.R109H,LRRC28:NM_001321678:exon5:c.G191A:p.R64H,LRRC28:NM_144598:exon5:c.G326A:p.R109H",D,D,D,T,N,T
chr15,101595326,101595326,C,T,R014_F,LRRK1,Silent,NM_024652,exon27,c.C4230T,p.Y1410Y,SNP,SNVindel,exonic,LRRK1,NA,synonymous SNV,LRRK1:NM_024652:exon27:c.C4230T:p.Y1410Y,NA,NA,NA,NA,NA,NA
chr16,1537773,1537773,G,A,R014_F,PTX4,Nonsense_Mutation,NM_001013658,exon2,c.C325T,p.R109X,SNP,SNVindel,exonic,PTX4,NA,stopgain,"PTX4:NM_001013658:exon2:c.C325T:p.R109X,PTX4:NM_001328608:exon2:c.C340T:p.R114X",.,N,A,.,.,.
chr16,1748922,1748922,C,T,R014_F,JPT2,Missense_Mutation,NM_144570,exon5,c.C496T,p.R166W,SNP,SNVindel,exonic,JPT2,NA,nonsynonymous SNV,JPT2:NM_144570:exon5:c.C496T:p.R166W,D,D,D,T,D,T
chr16,2485874,2485874,C,T,R014_F,CCNF,Silent,NM_001761,exon4,c.C346T,p.L116L,SNP,SNVindel,exonic,CCNF,NA,synonymous SNV,CCNF:NM_001761:exon4:c.C346T:p.L116L,NA,NA,NA,NA,NA,NA
chr16,3075788,3075788,C,T,R014_F,THOC6,Missense_Mutation,NM_001142350,exon2,c.C119T,p.A40V,SNP,SNVindel,exonic,THOC6,NA,nonsynonymous SNV,"THOC6:NM_001142350:exon2:c.C119T:p.A40V,THOC6:NM_024339:exon2:c.C119T:p.A40V,THOC6:NM_001347703:exon3:c.C47T:p.A16V,THOC6:NM_001347704:exon3:c.C119T:p.A40V",.,D,D,T,N,T
chr16,3188458,3188458,C,T,R014_F,ZNF213,Missense_Mutation,NM_001134655,exon3,c.C439T,p.R147W,SNP,SNVindel,exonic,ZNF213,NA,nonsynonymous SNV,"ZNF213:NM_001134655:exon3:c.C439T:p.R147W,ZNF213:NM_004220:exon3:c.C439T:p.R147W",D,N,N,T,N,T
chr16,9943632,9943632,G,A,R014_F,GRIN2A,Missense_Mutation,NM_001134407,exon5,c.C1309T,p.R437W,SNP,SNVindel,exonic,GRIN2A,NA,nonsynonymous SNV,"GRIN2A:NM_001134407:exon5:c.C1309T:p.R437W,GRIN2A:NM_001134408:exon5:c.C1309T:p.R437W,GRIN2A:NM_000833:exon6:c.C1309T:p.R437W",D,D,D,T,D,T
chr16,30369827,30369827,C,T,R014_F,TBC1D10B,Missense_Mutation,NM_015527,exon9,c.G1865A,p.R622Q,SNP,SNVindel,exonic,TBC1D10B,NA,nonsynonymous SNV,TBC1D10B:NM_015527:exon9:c.G1865A:p.R622Q,T,D,D,D,N,D
chr16,74425902,74425902,T,C,R014_F,NPIPB15,Missense_Mutation,NM_001306094,exon7,c.T1256C,p.I419T,SNP,SNVindel,exonic,NPIPB15,NA,nonsynonymous SNV,NPIPB15:NM_001306094:exon7:c.T1256C:p.I419T,T,.,N,T,N,T
chr16,84695330,84695330,C,T,R014_F,KLHL36,Missense_Mutation,NM_001303451,exon4,c.C1253T,p.T418M,SNP,SNVindel,exonic,KLHL36,NA,nonsynonymous SNV,"KLHL36:NM_001303451:exon4:c.C1253T:p.T418M,KLHL36:NM_024731:exon5:c.C1442T:p.T481M",D,D,D,T,N,T
chr16,89661800,89661800,C,T,R014_F,CPNE7,Missense_Mutation,NM_153636,exon14,c.C1328T,p.T443M,SNP,SNVindel,exonic,CPNE7,NA,nonsynonymous SNV,"CPNE7:NM_153636:exon14:c.C1328T:p.T443M,CPNE7:NM_014427:exon16:c.C1553T:p.T518M",D,D,D,T,D,D
chr17,729232,729232,G,A,R014_F,NXN,Silent,NM_001205319,exon2,c.C123T,p.N41N,SNP,SNVindel,exonic,NXN,NA,synonymous SNV,"NXN:NM_001205319:exon2:c.C123T:p.N41N,NXN:NM_022463:exon2:c.C447T:p.N149N",NA,NA,NA,NA,NA,NA
chr17,1028676,1028676,C,T,R014_F,ABR,Missense_Mutation,NM_001322841,exon2,c.G865A,p.D289N,SNP,SNVindel,exonic,ABR,NA,nonsynonymous SNV,"ABR:NM_001322841:exon2:c.G865A:p.D289N,ABR:NM_021962:exon2:c.G88A:p.D30N",T,D,D,T,N,T
chr17,3937480,3937480,C,T,R014_F,ZZEF1,Missense_Mutation,NM_015113,exon40,c.G6413A,p.G2138D,SNP,SNVindel,exonic,ZZEF1,NA,nonsynonymous SNV,ZZEF1:NM_015113:exon40:c.G6413A:p.G2138D,D,D,D,T,D,T
chr17,6703366,6703366,G,A,R014_F,TEKT1,Missense_Mutation,NM_053285,exon8,c.C1237T,p.R413C,SNP,SNVindel,exonic,TEKT1,NA,nonsynonymous SNV,TEKT1:NM_053285:exon8:c.C1237T:p.R413C,T,N,N,T,N,T
chr17,7483294,7483294,C,T,R014_F,CD68,Silent,NM_001040059,exon2,c.C135T,p.H45H,SNP,SNVindel,exonic,CD68,NA,synonymous SNV,"CD68:NM_001040059:exon2:c.C135T:p.H45H,CD68:NM_001251:exon2:c.C216T:p.H72H",NA,NA,NA,NA,NA,NA
chr17,7578406,7578406,C,T,R014_F,TP53,Missense_Mutation,NM_001126115,exon1,c.G128A,p.R43H,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon1:c.G128A:p.R43H,TP53:NM_001126116:exon1:c.G128A:p.R43H,TP53:NM_001126117:exon1:c.G128A:p.R43H,TP53:NM_001276697:exon1:c.G47A:p.R16H,TP53:NM_001276698:exon1:c.G47A:p.R16H,TP53:NM_001276699:exon1:c.G47A:p.R16H,TP53:NM_001126118:exon4:c.G407A:p.R136H,TP53:NM_000546:exon5:c.G524A:p.R175H,TP53:NM_001126112:exon5:c.G524A:p.R175H,TP53:NM_001126113:exon5:c.G524A:p.R175H,TP53:NM_001126114:exon5:c.G524A:p.R175H,TP53:NM_001276695:exon5:c.G407A:p.R136H,TP53:NM_001276696:exon5:c.G407A:p.R136H,TP53:NM_001276760:exon5:c.G407A:p.R136H,TP53:NM_001276761:exon5:c.G407A:p.R136H",D,D,A,D,D,D
chr17,8416902,8416902,G,A,R014_F,MYH10,Missense_Mutation,NM_005964,exon21,c.C2606T,p.T869M,SNP,SNVindel,exonic,MYH10,NA,nonsynonymous SNV,"MYH10:NM_005964:exon21:c.C2606T:p.T869M,MYH10:NM_001256095:exon22:c.C2633T:p.T878M,MYH10:NM_001256012:exon23:c.C2699T:p.T900M",T,D,N,D,N,T
chr17,10448685,10448685,G,A,R014_F,MYH2,Silent,NM_001100112,exon5,c.C483T,p.N161N,SNP,SNVindel,exonic,MYH2,NA,synonymous SNV,"MYH2:NM_001100112:exon5:c.C483T:p.N161N,MYH2:NM_017534:exon5:c.C483T:p.N161N",NA,NA,NA,NA,NA,NA
chr17,29653021,29653021,C,T,R014_F,NF1,Silent,NM_000267,exon36,c.C4956T,p.N1652N,SNP,SNVindel,exonic,NF1,NA,synonymous SNV,"NF1:NM_000267:exon36:c.C4956T:p.N1652N,NF1:NM_001042492:exon37:c.C5019T:p.N1673N",NA,NA,NA,NA,NA,NA
chr17,29661945,29661945,C,T,R014_F,NF1,Nonsense_Mutation,NM_000267,exon39,c.C5839T,p.R1947X,SNP,SNVindel,exonic,NF1,NA,stopgain,"NF1:NM_000267:exon39:c.C5839T:p.R1947X,NF1:NM_001042492:exon40:c.C5902T:p.R1968X",.,D,A,.,.,.
chr17,30981567,30981567,G,A,R014_F,MYO1D,Silent,NM_001303279,exon18,c.C2418T,p.A806A,SNP,SNVindel,exonic,MYO1D,NA,synonymous SNV,"MYO1D:NM_001303279:exon18:c.C2418T:p.A806A,MYO1D:NM_015194:exon18:c.C2418T:p.A806A",NA,NA,NA,NA,NA,NA
chr17,39197537,39197537,C,T,R014_F,KRTAP1-1,Missense_Mutation,NM_030967,exon1,c.G113A,p.R38H,SNP,SNVindel,exonic,KRTAP1-1,NA,nonsynonymous SNV,KRTAP1-1:NM_030967:exon1:c.G113A:p.R38H,D,.,N,T,N,T
chr17,39274131,39274131,C,T,R014_F,KRTAP4-11,Missense_Mutation,NM_033059,exon1,c.G437A,p.R146H,SNP,SNVindel,exonic,KRTAP4-11,NA,nonsynonymous SNV,KRTAP4-11:NM_033059:exon1:c.G437A:p.R146H,D,U,N,T,D,T
chr17,39661416,39661416,G,A,R014_F,KRT13,Silent,NM_002274,exon1,c.C387T,p.N129N,SNP,SNVindel,exonic,KRT13,NA,synonymous SNV,"KRT13:NM_002274:exon1:c.C387T:p.N129N,KRT13:NM_153490:exon1:c.C387T:p.N129N",NA,NA,NA,NA,NA,NA
chr17,40462634,40462634,C,T,R014_F,STAT5A,Missense_Mutation,NM_001288719,exon18,c.C2242T,p.R748C,SNP,SNVindel,exonic,STAT5A,NA,nonsynonymous SNV,"STAT5A:NM_001288719:exon18:c.C2242T:p.R748C,STAT5A:NM_001288720:exon18:c.C2239T:p.R747C,STAT5A:NM_001288718:exon19:c.C2332T:p.R778C,STAT5A:NM_003152:exon20:c.C2332T:p.R778C",D,D,N,D,N,T
chr17,40946662,40946662,G,A,R014_F,WNK4,Missense_Mutation,NM_001321299,exon12,c.G1318A,p.V440I,SNP,SNVindel,exonic,WNK4,NA,nonsynonymous SNV,"WNK4:NM_001321299:exon12:c.G1318A:p.V440I,WNK4:NM_032387:exon13:c.G2326A:p.V776I",T,N,N,T,N,T
chr17,41004930,41004930,G,A,R014_F,AOC3,Missense_Mutation,NM_001277731,exon1,c.G1570A,p.A524T,SNP,SNVindel,exonic,AOC3,NA,nonsynonymous SNV,"AOC3:NM_001277731:exon1:c.G1570A:p.A524T,AOC3:NM_003734:exon1:c.G1570A:p.A524T",D,D,D,T,N,T
chr17,56582201,56582201,C,T,R014_F,MTMR4,Missense_Mutation,NM_004687,exon12,c.G1238A,p.R413H,SNP,SNVindel,exonic,MTMR4,NA,nonsynonymous SNV,MTMR4:NM_004687:exon12:c.G1238A:p.R413H,D,N,D,D,D,D
chr17,60061601,60061601,C,T,R014_F,MED13,Missense_Mutation,NM_005121,exon15,c.G2819A,p.R940H,SNP,SNVindel,exonic,MED13,NA,nonsynonymous SNV,MED13:NM_005121:exon15:c.G2819A:p.R940H,D,D,D,T,D,D
chr17,65941849,65941849,G,A,R014_F,BPTF,Missense_Mutation,NM_182641,exon21,c.G7025A,p.R2342H,SNP,SNVindel,exonic,BPTF,NA,nonsynonymous SNV,"BPTF:NM_182641:exon21:c.G7025A:p.R2342H,BPTF:NM_004459:exon23:c.G7403A:p.R2468H",D,.,N,D,N,T
chr17,72470705,72470705,G,A,R014_F,CD300A,Silent,NM_001256841,exon2,c.G75A,p.A25A,SNP,SNVindel,exonic,CD300A,NA,synonymous SNV,"CD300A:NM_001256841:exon2:c.G75A:p.A25A,CD300A:NM_001330457:exon2:c.G75A:p.A25A,CD300A:NM_001330456:exon3:c.G24A:p.A8A,CD300A:NM_007261:exon3:c.G414A:p.A138A",NA,NA,NA,NA,NA,NA
chr17,72521970,72521970,C,T,R014_F,CD300LB,Missense_Mutation,NM_174892,exon2,c.G287A,p.R96Q,SNP,SNVindel,exonic,CD300LB,NA,nonsynonymous SNV,CD300LB:NM_174892:exon2:c.G287A:p.R96Q,T,N,N,.,N,T
chr17,73758895,73758895,C,T,R014_F,GALK1,Missense_Mutation,NM_000154,exon5,c.G683A,p.R228H,SNP,SNVindel,exonic,GALK1,NA,nonsynonymous SNV,GALK1:NM_000154:exon5:c.G683A:p.R228H,T,D,D,D,N,T
chr17,80039971,80039971,C,T,R014_F,FASN,Missense_Mutation,NM_004104,exon36,c.G6077A,p.R2026H,SNP,SNVindel,exonic,FASN,NA,nonsynonymous SNV,FASN:NM_004104:exon36:c.G6077A:p.R2026H,D,D,D,T,D,T
chr18,12122383,12122383,G,A,R014_F,ANKRD62,Missense_Mutation,NM_001277333,exon11,c.G1322A,p.R441Q,SNP,SNVindel,exonic,ANKRD62,NA,nonsynonymous SNV,ANKRD62:NM_001277333:exon11:c.G1322A:p.R441Q,.,.,N,.,.,T
chr18,44543223,44543223,G,A,R014_F,ELOA3C,Silent,NM_001242907,exon1,c.C1149T,p.A383A,SNP,SNVindel,exonic,ELOA3C;ELOA3D,NA,synonymous SNV,"ELOA3D:NM_001242907:exon1:c.C1149T:p.A383A,ELOA3C:NM_001354366:exon1:c.C1149T:p.A383A",NA,NA,NA,NA,NA,NA
chr18,44559464,44559464,C,T,R014_F,ELOA2,Silent,NM_016427,exon1,c.G2172A,p.A724A,SNP,SNVindel,exonic,ELOA2,NA,synonymous SNV,ELOA2:NM_016427:exon1:c.G2172A:p.A724A,NA,NA,NA,NA,NA,NA
chr18,47796117,47796117,G,A,R014_F,MBD1,Nonsense_Mutation,NM_001204143,exon14,c.C1537T,p.R513X,SNP,SNVindel,exonic,MBD1,NA,stopgain,MBD1:NM_001204143:exon14:c.C1537T:p.R513X,T,.,D,D,N,D
chr18,77474852,77474852,C,T,R014_F,CTDP1,Silent,NM_001202504,exon8,c.C1035T,p.S345S,SNP,SNVindel,exonic,CTDP1,NA,synonymous SNV,"CTDP1:NM_001202504:exon8:c.C1035T:p.S345S,CTDP1:NM_001318511:exon8:c.C1392T:p.S464S,CTDP1:NM_004715:exon8:c.C1392T:p.S464S,CTDP1:NM_048368:exon8:c.C1392T:p.S464S",NA,NA,NA,NA,NA,NA
chr19,746367,746367,G,A,R014_F,PALM,Silent,NM_001040134,exon8,c.G585A,p.A195A,SNP,SNVindel,exonic,PALM,NA,synonymous SNV,"PALM:NM_001040134:exon8:c.G585A:p.A195A,PALM:NM_002579:exon9:c.G717A:p.A239A",NA,NA,NA,NA,NA,NA
chr19,804922,804922,G,A,R014_F,PTBP1,Missense_Mutation,NM_002819,exon7,c.G700A,p.A234T,SNP,SNVindel,exonic,PTBP1,NA,nonsynonymous SNV,"PTBP1:NM_002819:exon7:c.G700A:p.A234T,PTBP1:NM_031990:exon7:c.G700A:p.A234T,PTBP1:NM_031991:exon7:c.G700A:p.A234T",D,D,D,T,D,D
chr19,3533383,3533383,G,A,R014_F,FZR1,Missense_Mutation,NM_001136197,exon9,c.G1067A,p.R356H,SNP,SNVindel,exonic,FZR1,NA,nonsynonymous SNV,"FZR1:NM_001136197:exon9:c.G1067A:p.R356H,FZR1:NM_001136198:exon11:c.G1334A:p.R445H,FZR1:NM_016263:exon12:c.G1334A:p.R445H",D,D,D,T,D,T
chr19,3611989,3611989,G,A,R014_F,CACTIN,Missense_Mutation,NM_001080543,exon10,c.C2209T,p.R737C,SNP,SNVindel,exonic,CACTIN,NA,nonsynonymous SNV,"CACTIN:NM_001080543:exon10:c.C2209T:p.R737C,CACTIN:NM_021231:exon10:c.C2209T:p.R737C",D,D,D,.,D,T
chr19,6719348,6719348,G,A,R014_F,C3,Silent,NM_000064,exon2,c.C141T,p.H47H,SNP,SNVindel,exonic,C3,NA,synonymous SNV,C3:NM_000064:exon2:c.C141T:p.H47H,NA,NA,NA,NA,NA,NA
chr19,8188415,8188415,C,T,R014_F,FBN3,Silent,NM_001321431,exon24,c.G3015A,p.T1005T,SNP,SNVindel,exonic,FBN3,NA,synonymous SNV,"FBN3:NM_001321431:exon24:c.G3015A:p.T1005T,FBN3:NM_032447:exon24:c.G3015A:p.T1005T",NA,NA,NA,NA,NA,NA
chr19,8808545,8808545,C,T,R014_F,ACTL9,Silent,NM_178525,exon1,c.G507A,p.S169S,SNP,SNVindel,exonic,ACTL9,NA,synonymous SNV,ACTL9:NM_178525:exon1:c.G507A:p.S169S,NA,NA,NA,NA,NA,NA
chr19,10334899,10334899,G,A,R014_F,S1PR2,Missense_Mutation,NM_004230,exon2,c.C683T,p.T228M,SNP,SNVindel,exonic,S1PR2,NA,nonsynonymous SNV,S1PR2:NM_004230:exon2:c.C683T:p.T228M,.,D,D,T,.,T
chr19,11313133,11313133,G,A,R014_F,DOCK6,Silent,NM_020812,exon43,c.C5388T,p.D1796D,SNP,SNVindel,exonic,DOCK6,NA,synonymous SNV,"DOCK6:NM_020812:exon43:c.C5388T:p.D1796D,DOCK6:NM_001367830:exon44:c.C5493T:p.D1831D",NA,NA,NA,NA,NA,NA
chr19,14273482,14273482,G,A,R014_F,ADGRL1,Silent,NM_014921,exon5,c.C1131T,p.Y377Y,SNP,SNVindel,exonic,ADGRL1,NA,synonymous SNV,"ADGRL1:NM_014921:exon5:c.C1131T:p.Y377Y,ADGRL1:NM_001008701:exon6:c.C1146T:p.Y382Y",NA,NA,NA,NA,NA,NA
chr19,14817509,14817509,C,T,R014_F,ZNF333,Silent,NM_001300912,exon7,c.C435T,p.A145A,SNP,SNVindel,exonic,ZNF333,NA,synonymous SNV,"ZNF333:NM_001300912:exon7:c.C435T:p.A145A,ZNF333:NM_001352244:exon7:c.C435T:p.A145A,ZNF333:NM_032433:exon7:c.C435T:p.A145A,ZNF333:NM_001352239:exon8:c.C108T:p.A36A,ZNF333:NM_001352240:exon8:c.C108T:p.A36A",.,.,N,T,.,.
chr19,15807850,15807850,C,T,R014_F,CYP4F12,Silent,NM_023944,exon13,c.C1530T,p.G510G,SNP,SNVindel,exonic,CYP4F12,NA,synonymous SNV,CYP4F12:NM_023944:exon13:c.C1530T:p.G510G,NA,NA,NA,NA,NA,NA
chr19,19329820,19329820,T,A,R014_F,NCAN,Missense_Mutation,NM_004386,exon3,c.T170A,p.L57Q,SNP,SNVindel,exonic,NCAN,NA,nonsynonymous SNV,NCAN:NM_004386:exon3:c.T170A:p.L57Q,D,N,D,T,D,T
chr19,38901614,38901614,G,A,R014_F,RASGRP4,Missense_Mutation,NM_001146206,exon13,c.C1310T,p.T437M,SNP,SNVindel,exonic,RASGRP4,NA,nonsynonymous SNV,"RASGRP4:NM_001146206:exon13:c.C1310T:p.T437M,RASGRP4:NM_001146207:exon14:c.C1586T:p.T529M,RASGRP4:NM_001146203:exon15:c.C1601T:p.T534M,RASGRP4:NM_001146202:exon16:c.C1835T:p.T612M,RASGRP4:NM_001146204:exon16:c.C1670T:p.T557M,RASGRP4:NM_001146205:exon16:c.C1775T:p.T592M,RASGRP4:NM_170604:exon16:c.C1877T:p.T626M",D,N,N,T,D,T
chr19,42879795,42879795,C,T,R014_F,MEGF8,Missense_Mutation,NM_001410,exon41,c.C7205T,p.A2402V,SNP,SNVindel,exonic,MEGF8,NA,nonsynonymous SNV,"MEGF8:NM_001410:exon41:c.C7205T:p.A2402V,MEGF8:NM_001271938:exon42:c.C7406T:p.A2469V",D,N,D,T,N,T
chr19,43679545,43679545,G,A,R014_F,PSG5,Silent,NM_001130014,exon4,c.C786T,p.F262F,SNP,SNVindel,exonic,PSG5,NA,synonymous SNV,"PSG5:NM_001130014:exon4:c.C786T:p.F262F,PSG5:NM_002781:exon4:c.C786T:p.F262F",NA,NA,NA,NA,NA,NA
chr19,44622361,44622361,C,T,R014_F,ZNF225,Silent,NM_013362,exon3,c.C36T,p.D12D,SNP,SNVindel,exonic,ZNF225,NA,synonymous SNV,"ZNF225:NM_013362:exon3:c.C36T:p.D12D,ZNF225:NM_001321685:exon4:c.C36T:p.D12D",NA,NA,NA,NA,NA,NA
chr19,49362744,49362744,C,T,R014_F,PLEKHA4,Missense_Mutation,NM_001161354,exon7,c.G674A,p.R225Q,SNP,SNVindel,exonic,PLEKHA4,NA,nonsynonymous SNV,"PLEKHA4:NM_001161354:exon7:c.G674A:p.R225Q,PLEKHA4:NM_020904:exon7:c.G674A:p.R225Q",T,N,N,T,N,T
chr19,50862330,50862330,C,T,R014_F,NAPSA,Missense_Mutation,NM_004851,exon8,c.G973A,p.A325T,SNP,SNVindel,exonic,NAPSA,NA,nonsynonymous SNV,NAPSA:NM_004851:exon8:c.G973A:p.A325T,T,N,N,T,N,T
chr19,54754973,54754973,T,A,R014_F,LILRB5,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LILRB5,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,55177358,55177358,C,T,R014_F,LILRB4,Missense_Mutation,NM_001278429,exon6,c.C937T,p.R313C,SNP,SNVindel,exonic,LILRB4,NA,nonsynonymous SNV,"LILRB4:NM_001278429:exon6:c.C937T:p.R313C,LILRB4:NM_001278426:exon7:c.C850T:p.R284C,LILRB4:NM_001278427:exon7:c.C850T:p.R284C,LILRB4:NM_001278428:exon7:c.C850T:p.R284C",D,.,N,T,D,T
chr19,55699455,55699455,G,A,R014_F,PTPRH,Silent,NM_001161440,exon11,c.C1932T,p.D644D,SNP,SNVindel,exonic,PTPRH,NA,synonymous SNV,"PTPRH:NM_001161440:exon11:c.C1932T:p.D644D,PTPRH:NM_002842:exon13:c.C2466T:p.D822D",NA,NA,NA,NA,NA,NA
chr19,56539737,56539737,C,T,R014_F,NLRP5,Missense_Mutation,NM_153447,exon7,c.C2138T,p.P713L,SNP,SNVindel,exonic,NLRP5,NA,nonsynonymous SNV,NLRP5:NM_153447:exon7:c.C2138T:p.P713L,T,N,N,D,N,T
chr19,56720095,56720095,G,A,R014_F,ZSCAN5C,Silent,NM_001358413,exon4,c.G1017A,p.A339A,SNP,SNVindel,exonic,ZSCAN5C,NA,synonymous SNV,ZSCAN5C:NM_001358413:exon4:c.G1017A:p.A339A,NA,NA,NA,NA,NA,NA
chr20,2776975,2776975,C,T,R014_F,CPXM1,Missense_Mutation,NM_001184699,exon9,c.G1160A,p.R387Q,SNP,SNVindel,exonic,CPXM1,NA,nonsynonymous SNV,"CPXM1:NM_001184699:exon9:c.G1160A:p.R387Q,CPXM1:NM_019609:exon9:c.G1160A:p.R387Q",D,D,D,T,D,T
chr20,2844631,2844631,C,T,R014_F,VPS16,Nonsense_Mutation,NM_080413,exon12,c.C1081T,p.R361X,SNP,SNVindel,exonic,VPS16,NA,stopgain,"VPS16:NM_080413:exon12:c.C1081T:p.R361X,VPS16:NM_022575:exon16:c.C1513T:p.R505X",.,N,A,.,.,.
chr20,9510386,9510386,G,A,R014_F,LAMP5,Silent,NM_001199897,exon5,c.G630A,p.A210A,SNP,SNVindel,exonic,LAMP5,NA,synonymous SNV,"LAMP5:NM_001199897:exon5:c.G630A:p.A210A,LAMP5:NM_012261:exon6:c.G762A:p.A254A",NA,NA,NA,NA,NA,NA
chr20,10639284,10639284,C,T,R014_F,JAG1,Missense_Mutation,NM_000214,exon4,c.G526A,p.V176I,SNP,SNVindel,exonic,JAG1,NA,nonsynonymous SNV,JAG1:NM_000214:exon4:c.G526A:p.V176I,T,N,N,D,N,D
chr20,13756597,13756597,C,T,R014_F,ESF1,Silent,NM_001276380,exon3,c.G957A,p.T319T,SNP,SNVindel,exonic,ESF1,NA,synonymous SNV,"ESF1:NM_001276380:exon3:c.G957A:p.T319T,ESF1:NM_016649:exon3:c.G957A:p.T319T",NA,NA,NA,NA,NA,NA
chr20,18535015,18535015,C,T,R014_F,SEC23B,Missense_Mutation,NM_001172745,exon18,c.C2129T,p.T710M,SNP,SNVindel,exonic,SEC23B,NA,nonsynonymous SNV,"SEC23B:NM_001172745:exon18:c.C2129T:p.T710M,SEC23B:NM_001172746:exon18:c.C2075T:p.T692M,SEC23B:NM_006363:exon18:c.C2129T:p.T710M,SEC23B:NM_032985:exon18:c.C2129T:p.T710M,SEC23B:NM_032986:exon18:c.C2129T:p.T710M",D,D,D,T,D,T
chr20,20527349,20527349,G,A,R014_F,RALGAPA2,Missense_Mutation,NM_020343,exon24,c.C3284T,p.T1095M,SNP,SNVindel,exonic,RALGAPA2,NA,nonsynonymous SNV,RALGAPA2:NM_020343:exon24:c.C3284T:p.T1095M,T,D,D,T,N,T
chr20,29965087,29965087,C,T,R014_F,DEFB119,Missense_Mutation,NM_153289,exon2,c.G217A,p.D73N,SNP,SNVindel,exonic,DEFB119,NA,nonsynonymous SNV,DEFB119:NM_153289:exon2:c.G217A:p.D73N,T,.,N,T,D,T
chr20,30602748,30602748,C,T,R014_F,CCM2L,Silent,NM_001365692,exon2,c.C72T,p.A24A,SNP,SNVindel,exonic,CCM2L,NA,synonymous SNV,"CCM2L:NM_001365692:exon2:c.C72T:p.A24A,CCM2L:NM_080625:exon2:c.C72T:p.A24A",NA,NA,NA,NA,NA,NA
chr20,35444329,35444329,C,T,R014_F,SOGA1,Missense_Mutation,NM_080627,exon5,c.G1516A,p.G506R,SNP,SNVindel,exonic,SOGA1,NA,nonsynonymous SNV,"SOGA1:NM_080627:exon5:c.G1516A:p.G506R,SOGA1:NM_199181:exon5:c.G802A:p.G268R",T,N,D,T,N,T
chr20,36775164,36775164,C,T,R014_F,TGM2,Missense_Mutation,NM_001323317,exon5,c.G571A,p.V191I,SNP,SNVindel,exonic,TGM2,NA,nonsynonymous SNV,"TGM2:NM_001323317:exon5:c.G571A:p.V191I,TGM2:NM_001323318:exon5:c.G634A:p.V212I,TGM2:NM_004613:exon6:c.G814A:p.V272I,TGM2:NM_198951:exon6:c.G814A:p.V272I,TGM2:NM_001323316:exon7:c.G814A:p.V272I",D,D,D,D,N,D
chr20,42788438,42788438,G,A,R014_F,JPH2,Missense_Mutation,NM_020433,exon2,c.C989T,p.T330M,SNP,SNVindel,exonic,JPH2,NA,nonsynonymous SNV,JPH2:NM_020433:exon2:c.C989T:p.T330M,T,U,D,T,D,T
chr20,43945565,43945565,C,T,R014_F,RBPJL,Missense_Mutation,NM_001281449,exon12,c.C1517T,p.T506M,SNP,SNVindel,exonic,RBPJL,NA,nonsynonymous SNV,"RBPJL:NM_001281449:exon12:c.C1517T:p.T506M,RBPJL:NM_014276:exon12:c.C1520T:p.T507M",D,D,D,T,N,T
chr20,44463739,44463739,C,T,R014_F,SNX21,Missense_Mutation,NM_001042632,exon3,c.C431T,p.P144L,SNP,SNVindel,exonic,SNX21,NA,nonsynonymous SNV,"SNX21:NM_001042632:exon3:c.C431T:p.P144L,SNX21:NM_001042633:exon3:c.C431T:p.P144L,SNX21:NM_033421:exon3:c.C431T:p.P144L,SNX21:NM_152897:exon3:c.C431T:p.P144L",D,N,D,T,D,T
chr20,44592129,44592129,G,A,R014_F,ZNF335,Missense_Mutation,NM_022095,exon9,c.C1516T,p.R506C,SNP,SNVindel,exonic,ZNF335,NA,nonsynonymous SNV,ZNF335:NM_022095:exon9:c.C1516T:p.R506C,D,D,D,T,D,T
chr20,46276052,46276052,G,A,R014_F,NCOA3,Missense_Mutation,NM_001174087,exon18,c.G3488A,p.R1163Q,SNP,SNVindel,exonic,NCOA3,NA,nonsynonymous SNV,"NCOA3:NM_001174087:exon18:c.G3488A:p.R1163Q,NCOA3:NM_001174088:exon18:c.G3473A:p.R1158Q,NCOA3:NM_006534:exon18:c.G3488A:p.R1163Q,NCOA3:NM_181659:exon18:c.G3488A:p.R1163Q",T,D,D,T,N,T
chr20,62730083,62730083,C,T,R014_F,OPRL1,Silent,NM_001318854,exon3,c.C1029T,p.R343R,SNP,SNVindel,exonic,OPRL1,NA,synonymous SNV,"OPRL1:NM_001318854:exon3:c.C1029T:p.R343R,OPRL1:NM_001318855:exon3:c.C957T:p.R319R,OPRL1:NM_000913:exon4:c.C1044T:p.R348R,OPRL1:NM_182647:exon5:c.C1044T:p.R348R,OPRL1:NM_001200019:exon6:c.C1044T:p.R348R",NA,NA,NA,NA,NA,NA
chr21,41427743,41427743,C,T,R014_F,DSCAM,Silent,NM_001271534,exon29,c.G4944A,p.T1648T,SNP,SNVindel,exonic,DSCAM,NA,synonymous SNV,"DSCAM:NM_001271534:exon29:c.G4944A:p.T1648T,DSCAM:NM_001389:exon29:c.G4944A:p.T1648T",NA,NA,NA,NA,NA,NA
chr21,45391351,45391351,C,T,R014_F,AGPAT3,Silent,NM_001037553,exon6,c.C747T,p.Y249Y,SNP,SNVindel,exonic,AGPAT3,NA,synonymous SNV,"AGPAT3:NM_001037553:exon6:c.C747T:p.Y249Y,AGPAT3:NM_001369878:exon6:c.C747T:p.Y249Y,AGPAT3:NM_001369880:exon6:c.C747T:p.Y249Y,AGPAT3:NM_001369881:exon7:c.C561T:p.Y187Y,AGPAT3:NM_020132:exon7:c.C747T:p.Y249Y",NA,NA,NA,NA,NA,NA
chr22,17586804,17586804,C,T,R014_F,IL17RA,Silent,NM_014339,exon11,c.C1005T,p.S335S,SNP,SNVindel,exonic,IL17RA,NA,synonymous SNV,IL17RA:NM_014339:exon11:c.C1005T:p.S335S,NA,NA,NA,NA,NA,NA
chr22,17690467,17690467,C,T,R014_F,ADA2,Missense_Mutation,NM_001282225,exon2,c.G101A,p.R34Q,SNP,SNVindel,exonic,ADA2,NA,nonsynonymous SNV,"ADA2:NM_001282225:exon2:c.G101A:p.R34Q,ADA2:NM_001282226:exon2:c.G101A:p.R34Q",T,N,N,T,N,T
chr22,18022254,18022254,G,A,R014_F,CECR2,Missense_Mutation,NM_001290046,exon16,c.G1933A,p.V645M,SNP,SNVindel,exonic,CECR2,NA,nonsynonymous SNV,CECR2:NM_001290046:exon16:c.G1933A:p.V645M,T,N,N,T,N,T
chr22,21385810,21385810,G,A,R014_F,SLC7A4,Missense_Mutation,NM_004173,exon2,c.C292T,p.R98C,SNP,SNVindel,exonic,SLC7A4,NA,nonsynonymous SNV,SLC7A4:NM_004173:exon2:c.C292T:p.R98C,T,N,D,D,D,T
chr22,21989211,21989211,G,A,R014_F,CCDC116,Missense_Mutation,NM_001331066,exon4,c.G859A,p.D287N,SNP,SNVindel,exonic,CCDC116,NA,nonsynonymous SNV,"CCDC116:NM_001331066:exon4:c.G859A:p.D287N,CCDC116:NM_152612:exon4:c.G859A:p.D287N",T,N,N,T,N,T
chr22,24219286,24219286,G,A,R014_F,SLC2A11,Missense_Mutation,NM_001024938,exon5,c.G464A,p.R155Q,SNP,SNVindel,exonic,SLC2A11,NA,nonsynonymous SNV,"SLC2A11:NM_001024938:exon5:c.G464A:p.R155Q,SLC2A11:NM_001024939:exon5:c.G473A:p.R158Q,SLC2A11:NM_001282864:exon5:c.G485A:p.R162Q,SLC2A11:NM_030807:exon6:c.G485A:p.R162Q",D,N,D,D,D,D
chr22,24584203,24584203,C,T,R014_F,SUSD2,Silent,NM_019601,exon14,c.C2352T,p.Y784Y,SNP,SNVindel,exonic,SUSD2,NA,synonymous SNV,SUSD2:NM_019601:exon14:c.C2352T:p.Y784Y,NA,NA,NA,NA,NA,NA
chr22,29439310,29439310,G,A,R014_F,ZNRF3,Silent,NM_001206998,exon4,c.G525A,p.P175P,SNP,SNVindel,exonic,ZNRF3,NA,synonymous SNV,"ZNRF3:NM_001206998:exon4:c.G525A:p.P175P,ZNRF3:NM_032173:exon4:c.G225A:p.P75P",NA,NA,NA,NA,NA,NA
chr22,30185133,30185133,G,A,R014_F,ASCC2,Nonsense_Mutation,NM_001369942,exon17,c.C1609T,p.R537X,SNP,SNVindel,exonic,ASCC2,NA,stopgain,"ASCC2:NM_001369942:exon17:c.C1609T:p.R537X,ASCC2:NM_001369944:exon17:c.C1435T:p.R479X,ASCC2:NM_001369947:exon17:c.C1435T:p.R479X,ASCC2:NM_001369930:exon18:c.C1909T:p.R637X,ASCC2:NM_001369936:exon18:c.C1801T:p.R601X,ASCC2:NM_001369943:exon18:c.C1435T:p.R479X,ASCC2:NM_001369950:exon18:c.C1429T:p.R477X,ASCC2:NM_001242906:exon19:c.C1915T:p.R639X,ASCC2:NM_001369925:exon19:c.C1999T:p.R667X,ASCC2:NM_001369927:exon19:c.C1984T:p.R662X,ASCC2:NM_001369929:exon19:c.C1972T:p.R658X,ASCC2:NM_001369934:exon19:c.C1801T:p.R601X,ASCC2:NM_001369937:exon19:c.C1801T:p.R601X,ASCC2:NM_001369939:exon19:c.C1801T:p.R601X,ASCC2:NM_001369941:exon19:c.C1789T:p.R597X,ASCC2:NM_001369949:exon19:c.C1435T:p.R479X,ASCC2:NM_001369920:exon20:c.C2158T:p.R720X,ASCC2:NM_001369924:exon20:c.C2131T:p.R711X,ASCC2:NM_001369926:exon20:c.C1984T:p.R662X,ASCC2:NM_001369933:exon20:c.C1801T:p.R601X,ASCC2:NM_001369940:exon20:c.C1801T:p.R601X,ASCC2:NM_001369945:exon20:c.C1435T:p.R479X,ASCC2:NM_032204:exon20:c.C2143T:p.R715X,ASCC2:NM_001369922:exon21:c.C2143T:p.R715X,ASCC2:NM_001369923:exon21:c.C2143T:p.R715X,ASCC2:NM_001369928:exon21:c.C1984T:p.R662X,ASCC2:NM_001369932:exon21:c.C1801T:p.R601X,ASCC2:NM_001369935:exon21:c.C1801T:p.R601X,ASCC2:NM_001369938:exon21:c.C1801T:p.R601X,ASCC2:NM_001369946:exon21:c.C1435T:p.R479X,ASCC2:NM_001369948:exon21:c.C1435T:p.R479X,ASCC2:NM_001369921:exon22:c.C2143T:p.R715X,ASCC2:NM_001369931:exon23:c.C1801T:p.R601X",.,D,D,.,.,.
chr22,33264983,33264983,G,A,R014_F,SYN3,Silent,NM_133633,exon4,c.C591T,p.S197S,SNP,SNVindel,exonic,SYN3,NA,synonymous SNV,"SYN3:NM_133633:exon4:c.C591T:p.S197S,SYN3:NM_001135774:exon5:c.C588T:p.S196S,SYN3:NM_001369907:exon5:c.C591T:p.S197S,SYN3:NM_001369908:exon5:c.C591T:p.S197S,SYN3:NM_001369909:exon5:c.C588T:p.S196S,SYN3:NM_001369910:exon5:c.C588T:p.S196S,SYN3:NM_003490:exon5:c.C591T:p.S197S",NA,NA,NA,NA,NA,NA
chr22,36587779,36587779,C,G,R014_F,APOL4,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,APOL4,NA,unknown,UNKNOWN,.,D,N,.,.,T
chr22,39380117,39380117,G,A,R014_F,APOBEC3B,Missense_Mutation,NM_001270411,exon2,c.G55A,p.D19N,SNP,SNVindel,exonic,APOBEC3B,NA,nonsynonymous SNV,"APOBEC3B:NM_001270411:exon2:c.G55A:p.D19N,APOBEC3B:NM_004900:exon2:c.G55A:p.D19N",T,.,N,T,N,T
chr22,41739491,41739491,G,A,R014_F,ZC3H7B,Missense_Mutation,NM_017590,exon13,c.G1370A,p.R457Q,SNP,SNVindel,exonic,ZC3H7B,NA,nonsynonymous SNV,ZC3H7B:NM_017590:exon13:c.G1370A:p.R457Q,D,N,D,T,D,T
chr22,46760094,46760094,G,A,R014_F,CELSR1,Missense_Mutation,NM_014246,exon34,c.C8834T,p.T2945M,SNP,SNVindel,exonic,CELSR1,NA,nonsynonymous SNV,CELSR1:NM_014246:exon34:c.C8834T:p.T2945M,D,U,N,T,N,T
chr22,46765643,46765643,C,T,R014_F,CELSR1,Silent,NM_014246,exon26,c.G7818A,p.S2606S,SNP,SNVindel,exonic,CELSR1,NA,synonymous SNV,CELSR1:NM_014246:exon26:c.G7818A:p.S2606S,NA,NA,NA,NA,NA,NA
chr22,46930345,46930345,G,A,R014_F,CELSR1,Missense_Mutation,NM_014246,exon1,c.C2723T,p.S908L,SNP,SNVindel,exonic,CELSR1,NA,nonsynonymous SNV,CELSR1:NM_014246:exon1:c.C2723T:p.S908L,T,U,N,T,N,T
chrX,10188755,10188755,C,T,R014_F,CLCN4,Missense_Mutation,NM_001256944,exon10,c.C1748T,p.T583M,SNP,SNVindel,exonic,CLCN4,NA,nonsynonymous SNV,"CLCN4:NM_001256944:exon10:c.C1748T:p.T583M,CLCN4:NM_001830:exon12:c.C2030T:p.T677M",T,D,D,D,D,D
chrX,15800641,15800641,G,A,R014_F,CA5B,Missense_Mutation,NM_007220,exon8,c.G808A,p.E270K,SNP,SNVindel,exonic,CA5B,NA,nonsynonymous SNV,CA5B:NM_007220:exon8:c.G808A:p.E270K,D,N,N,T,N,T
chrX,17819744,17819744,G,A,R014_F,RAI2,Silent,NM_021785,exon2,c.C387T,p.H129H,SNP,SNVindel,exonic,RAI2,NA,synonymous SNV,"RAI2:NM_021785:exon2:c.C387T:p.H129H,RAI2:NM_001172732:exon3:c.C237T:p.H79H,RAI2:NM_001172739:exon3:c.C387T:p.H129H,RAI2:NM_001172743:exon3:c.C387T:p.H129H",NA,NA,NA,NA,NA,NA
chrX,18797154,18797154,G,A,R014_F,PPEF1,Silent,NM_006240,exon10,c.G585A,p.P195P,SNP,SNVindel,exonic,PPEF1,NA,synonymous SNV,"PPEF1:NM_006240:exon10:c.G585A:p.P195P,PPEF1:NM_152224:exon10:c.G585A:p.P195P,PPEF1:NM_152226:exon10:c.G585A:p.P195P",NA,NA,NA,NA,NA,NA
chrX,21875524,21875524,G,A,R014_F,YY2,Missense_Mutation,NM_206923,exon1,c.G922A,p.E308K,SNP,SNVindel,exonic,YY2,NA,nonsynonymous SNV,YY2:NM_206923:exon1:c.G922A:p.E308K,D,U,D,T,D,T
chrX,24741360,24741360,G,A,R014_F,POLA1,Silent,NM_001330360,exon11,c.G1176A,p.T392T,SNP,SNVindel,exonic,POLA1,NA,synonymous SNV,"POLA1:NM_001330360:exon11:c.G1176A:p.T392T,POLA1:NM_016937:exon11:c.G1158A:p.T386T",NA,NA,NA,NA,NA,NA
chrX,37061522,37061522,G,A,R014_F,FTHL18,Silent,NM_001271682,exon1,c.C240T,p.F80F,SNP,SNVindel,exonic,FTHL18,NA,synonymous SNV,FTHL18:NM_001271682:exon1:c.C240T:p.F80F,NA,NA,NA,NA,NA,NA
chrX,48419269,48419269,G,A,R014_F,TBC1D25,Missense_Mutation,NM_001348262,exon6,c.G2021A,p.R674H,SNP,SNVindel,exonic,TBC1D25,NA,nonsynonymous SNV,"TBC1D25:NM_001348262:exon6:c.G2021A:p.R674H,TBC1D25:NM_001348263:exon6:c.G1985A:p.R662H,TBC1D25:NM_001348264:exon6:c.G1799A:p.R600H,TBC1D25:NM_001348265:exon6:c.G1799A:p.R600H,TBC1D25:NM_002536:exon6:c.G1973A:p.R658H",D,N,N,T,D,T
chrX,48624282,48624282,C,T,R014_F,GLOD5,Missense_Mutation,NM_001080489,exon2,c.C106T,p.R36C,SNP,SNVindel,exonic,GLOD5,NA,nonsynonymous SNV,GLOD5:NM_001080489:exon2:c.C106T:p.R36C,T,N,N,.,N,T
chrX,49074243,49074243,G,A,R014_F,CACNA1F,Silent,NM_001256789,exon26,c.C3060T,p.D1020D,SNP,SNVindel,exonic,CACNA1F,NA,synonymous SNV,"CACNA1F:NM_001256789:exon26:c.C3060T:p.D1020D,CACNA1F:NM_001256790:exon26:c.C2898T:p.D966D,CACNA1F:NM_005183:exon26:c.C3093T:p.D1031D",NA,NA,NA,NA,NA,NA
chrX,50129422,50129422,C,G,R014_F,DGKK,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,DGKK,NA,unknown,UNKNOWN,.,.,.,.,.,.
chrX,86873111,86873111,G,A,R014_F,KLHL4,Missense_Mutation,NM_019117,exon4,c.G904A,p.V302M,SNP,SNVindel,exonic,KLHL4,NA,nonsynonymous SNV,"KLHL4:NM_019117:exon4:c.G904A:p.V302M,KLHL4:NM_057162:exon4:c.G904A:p.V302M",D,D,D,T,N,T
chrX,100403014,100403014,C,T,R014_F,CENPI,Missense_Mutation,NM_006733,exon19,c.C1958T,p.T653M,SNP,SNVindel,exonic,CENPI,NA,nonsynonymous SNV,"CENPI:NM_006733:exon19:c.C1958T:p.T653M,CENPI:NM_001318521:exon20:c.C1958T:p.T653M",D,D,D,.,N,T
chrX,107084559,107084559,G,A,R014_F,MID2,Missense_Mutation,NM_012216,exon2,c.G664A,p.G222S,SNP,SNVindel,exonic,MID2,NA,nonsynonymous SNV,"MID2:NM_012216:exon2:c.G664A:p.G222S,MID2:NM_052817:exon2:c.G664A:p.G222S",D,D,D,T,D,T
chrX,117043736,117043736,C,T,R014_F,KLHL13,Silent,NM_001168300,exon5,c.G876A,p.T292T,SNP,SNVindel,exonic,KLHL13,NA,synonymous SNV,"KLHL13:NM_001168300:exon5:c.G876A:p.T292T,KLHL13:NM_001168303:exon5:c.G768A:p.T256T,KLHL13:NM_033495:exon5:c.G894A:p.T298T,KLHL13:NM_001168299:exon6:c.G903A:p.T301T,KLHL13:NM_001168301:exon6:c.G846A:p.T282T,KLHL13:NM_001168302:exon6:c.G846A:p.T282T",NA,NA,NA,NA,NA,NA
chrX,131762708,131762708,G,A,R014_F,HS6ST2,Missense_Mutation,NM_147175,exon4,c.C1361T,p.S454L,SNP,SNVindel,exonic,HS6ST2,NA,nonsynonymous SNV,"HS6ST2:NM_147175:exon4:c.C1361T:p.S454L,HS6ST2:NM_001077188:exon6:c.C1481T:p.S494L",T,D,D,T,N,T
chrX,131762801,131762801,G,T,R014_F,HS6ST2,Nonsense_Mutation,NM_147175,exon4,c.C1268A,p.S423X,SNP,SNVindel,exonic,HS6ST2,NA,stopgain,"HS6ST2:NM_147175:exon4:c.C1268A:p.S423X,HS6ST2:NM_001077188:exon6:c.C1388A:p.S463X",.,N,A,.,.,.
chrX,153055688,153055688,G,A,R014_F,IDH3G,Silent,NM_004135,exon4,c.C195T,p.I65I,SNP,SNVindel,exonic,IDH3G,NA,synonymous SNV,"IDH3G:NM_004135:exon4:c.C195T:p.I65I,IDH3G:NM_174869:exon4:c.C195T:p.I65I",NA,NA,NA,NA,NA,NA
chrX,153539493,153539493,G,A,R014_F,TKTL1,Missense_Mutation,NM_001145934,exon4,c.G406A,p.V136M,SNP,SNVindel,exonic,TKTL1,NA,nonsynonymous SNV,"TKTL1:NM_001145934:exon4:c.G406A:p.V136M,TKTL1:NM_001145933:exon5:c.G556A:p.V186M,TKTL1:NM_012253:exon5:c.G574A:p.V192M",D,D,D,T,D,T
chr1,1689890,1689890,G,A,R014_S,NADK,Silent,NM_001198995,exon1,c.C81T,p.L27L,SNP,SNVindel,exonic,NADK,NA,synonymous SNV,NADK:NM_001198995:exon1:c.C81T:p.L27L,NA,NA,NA,NA,NA,NA
chr1,11897528,11897528,G,A,R014_S,CLCN6,Missense_Mutation,NM_001256959,exon19,c.G2201A,p.R734Q,SNP,SNVindel,exonic,CLCN6,NA,nonsynonymous SNV,"CLCN6:NM_001256959:exon19:c.G2201A:p.R734Q,CLCN6:NM_001286:exon20:c.G2267A:p.R756Q",D,D,D,D,N,D
chr1,16354522,16354522,C,T,R014_S,CLCNKA,Silent,NM_001257139,exon9,c.C747T,p.C249C,SNP,SNVindel,exonic,CLCNKA,NA,synonymous SNV,"CLCNKA:NM_001257139:exon9:c.C747T:p.C249C,CLCNKA:NM_001042704:exon10:c.C876T:p.C292C,CLCNKA:NM_004070:exon10:c.C876T:p.C292C",NA,NA,NA,NA,NA,NA
chr1,17552381,17552381,G,A,R014_S,PADI1,Missense_Mutation,NM_013358,exon5,c.G484A,p.A162T,SNP,SNVindel,exonic,PADI1,NA,nonsynonymous SNV,PADI1:NM_013358:exon5:c.G484A:p.A162T,T,N,N,T,N,T
chr1,22924345,22924345,G,A,R014_S,EPHA8,Missense_Mutation,NM_020526,exon11,c.G2107A,p.V703I,SNP,SNVindel,exonic,EPHA8,NA,nonsynonymous SNV,EPHA8:NM_020526:exon11:c.G2107A:p.V703I,T,D,D,D,N,D
chr1,22987847,22987847,G,A,R014_S,C1QB,Missense_Mutation,NM_000491,exon3,c.G730A,p.G244R,SNP,SNVindel,exonic,C1QB,NA,nonsynonymous SNV,"C1QB:NM_000491:exon3:c.G730A:p.G244R,C1QB:NM_001371184:exon4:c.G730A:p.G244R",D,D,D,D,D,D
chr1,33613273,33613273,C,T,R014_S,TRIM62,Silent,NM_001330483,exon5,c.G570A,p.S190S,SNP,SNVindel,exonic,TRIM62,NA,synonymous SNV,"TRIM62:NM_001330483:exon5:c.G570A:p.S190S,TRIM62:NM_018207:exon5:c.G933A:p.S311S",NA,NA,NA,NA,NA,NA
chr1,38463655,38463655,G,A,R014_S,FHL3,Missense_Mutation,NM_001243878,exon3,c.C157T,p.R53C,SNP,SNVindel,exonic,FHL3,NA,nonsynonymous SNV,"FHL3:NM_001243878:exon3:c.C157T:p.R53C,FHL3:NM_004468:exon4:c.C481T:p.R161C",D,D,D,D,D,D
chr1,45120871,45120871,A,G,R014_S,TMEM53,Missense_Mutation,NM_024587,exon3,c.T194C,p.V65A,SNP,SNVindel,exonic,TMEM53,NA,nonsynonymous SNV,TMEM53:NM_024587:exon3:c.T194C:p.V65A,T,D,D,.,N,T
chr1,48821392,48821392,G,A,R014_S,SPATA6,Missense_Mutation,NM_001286239,exon10,c.C1102T,p.R368W,SNP,SNVindel,exonic,SPATA6,NA,nonsynonymous SNV,"SPATA6:NM_001286239:exon10:c.C1102T:p.R368W,SPATA6:NM_001286238:exon11:c.C1144T:p.R382W,SPATA6:NM_019073:exon11:c.C1144T:p.R382W",D,D,D,T,D,T
chr1,52135118,52135118,G,A,R014_S,OSBPL9,Missense_Mutation,NM_148906,exon2,c.G124A,p.G42S,SNP,SNVindel,exonic,OSBPL9,NA,nonsynonymous SNV,"OSBPL9:NM_148906:exon2:c.G124A:p.G42S,OSBPL9:NM_024586:exon3:c.G175A:p.G59S,OSBPL9:NM_148908:exon3:c.G175A:p.G59S,OSBPL9:NM_148909:exon3:c.G175A:p.G59S",D,D,D,D,D,D
chr1,57340632,57340632,G,A,R014_S,C8A,Missense_Mutation,NM_000562,exon3,c.G182A,p.R61Q,SNP,SNVindel,exonic,C8A,NA,nonsynonymous SNV,C8A:NM_000562:exon3:c.G182A:p.R61Q,T,D,D,T,N,T
chr1,79383570,79383570,C,T,R014_S,ADGRL4,Missense_Mutation,NM_022159,exon11,c.G1627A,p.V543M,SNP,SNVindel,exonic,ADGRL4,NA,nonsynonymous SNV,ADGRL4:NM_022159:exon11:c.G1627A:p.V543M,D,D,D,T,N,T
chr1,101194866,101194866,G,A,R014_S,VCAM1,Missense_Mutation,NM_001078,exon5,c.G1132A,p.E378K,SNP,SNVindel,exonic,VCAM1,NA,nonsynonymous SNV,"VCAM1:NM_001078:exon5:c.G1132A:p.E378K,VCAM1:NM_001199834:exon5:c.G946A:p.E316K",D,N,D,T,N,T
chr1,120438172,120438172,C,T,R014_S,ADAM30,Missense_Mutation,NM_021794,exon1,c.G788A,p.R263H,SNP,SNVindel,exonic,ADAM30,NA,nonsynonymous SNV,ADAM30:NM_021794:exon1:c.G788A:p.R263H,T,N,N,T,N,T
chr1,145303970,145303970,C,T,R014_S,NBPF10,Missense_Mutation,NM_001039703,exon9,c.C1367T,p.S456L,SNP,SNVindel,exonic,NBPF10,NA,nonsynonymous SNV,"NBPF10:NM_001039703:exon9:c.C1367T:p.S456L,NBPF10:NM_001302371:exon9:c.C1367T:p.S456L",.,.,N,.,.,T
chr1,151316984,151316984,G,A,R014_S,RFX5,Missense_Mutation,NM_000449,exon7,c.C382T,p.R128C,SNP,SNVindel,exonic,RFX5,NA,nonsynonymous SNV,"RFX5:NM_000449:exon7:c.C382T:p.R128C,RFX5:NM_001025603:exon7:c.C382T:p.R128C",D,D,D,D,D,D
chr1,158612231,158612231,G,A,R014_S,SPTA1,Silent,NM_003126,exon33,c.C4707T,p.S1569S,SNP,SNVindel,exonic,SPTA1,NA,synonymous SNV,SPTA1:NM_003126:exon33:c.C4707T:p.S1569S,NA,NA,NA,NA,NA,NA
chr1,167780075,167780075,C,T,R014_S,ADCY10,Missense_Mutation,NM_001167749,exon29,c.G4099A,p.V1367I,SNP,SNVindel,exonic,ADCY10,NA,nonsynonymous SNV,"ADCY10:NM_001167749:exon29:c.G4099A:p.V1367I,ADCY10:NM_001297772:exon32:c.G4282A:p.V1428I,ADCY10:NM_018417:exon32:c.G4558A:p.V1520I",T,N,N,T,N,T
chr1,170931074,170931074,C,T,R014_S,MROH9,Missense_Mutation,NM_001163629,exon6,c.C332T,p.T111M,SNP,SNVindel,exonic,MROH9,NA,nonsynonymous SNV,"MROH9:NM_001163629:exon6:c.C332T:p.T111M,MROH9:NM_025063:exon6:c.C332T:p.T111M",T,N,N,T,N,T
chr1,172356367,172356367,G,A,R014_S,DNM3,Missense_Mutation,NM_001136127,exon18,c.G2141A,p.R714H,SNP,SNVindel,exonic,DNM3,NA,nonsynonymous SNV,"DNM3:NM_001136127:exon18:c.G2141A:p.R714H,DNM3:NM_001350204:exon19:c.G2171A:p.R724H,DNM3:NM_001350206:exon19:c.G2171A:p.R724H,DNM3:NM_015569:exon19:c.G2153A:p.R718H",T,D,D,T,D,T
chr1,174417366,174417366,C,T,R014_S,GPR52,Silent,NM_005684,exon1,c.C117T,p.V39V,SNP,SNVindel,exonic,GPR52,NA,synonymous SNV,GPR52:NM_005684:exon1:c.C117T:p.V39V,NA,NA,NA,NA,NA,NA
chr1,174417912,174417912,C,T,R014_S,GPR52,Silent,NM_005684,exon1,c.C663T,p.F221F,SNP,SNVindel,exonic,GPR52,NA,synonymous SNV,GPR52:NM_005684:exon1:c.C663T:p.F221F,NA,NA,NA,NA,NA,NA
chr1,174417930,174417930,C,T,R014_S,GPR52,Silent,NM_005684,exon1,c.C681T,p.F227F,SNP,SNVindel,exonic,GPR52,NA,synonymous SNV,GPR52:NM_005684:exon1:c.C681T:p.F227F,NA,NA,NA,NA,NA,NA
chr1,174418135,174418135,C,T,R014_S,GPR52,Missense_Mutation,NM_005684,exon1,c.C886T,p.P296S,SNP,SNVindel,exonic,GPR52,NA,nonsynonymous SNV,GPR52:NM_005684:exon1:c.C886T:p.P296S,T,D,D,T,D,T
chr1,176145089,176145089,G,A,R014_S,COP1,Silent,NM_001001740,exon3,c.C522T,p.N174N,SNP,SNVindel,exonic,COP1,NA,synonymous SNV,"COP1:NM_001001740:exon3:c.C522T:p.N174N,COP1:NM_022457:exon3:c.C522T:p.N174N",NA,NA,NA,NA,NA,NA
chr1,177247882,177247882,G,A,R014_S,BRINP2,Missense_Mutation,NM_021165,exon7,c.G1196A,p.R399H,SNP,SNVindel,exonic,BRINP2,NA,nonsynonymous SNV,BRINP2:NM_021165:exon7:c.G1196A:p.R399H,D,D,D,T,D,T
chr1,196871608,196871608,G,A,R014_S,CFHR4,Missense_Mutation,NM_001201550,exon2,c.G119A,p.R40H,SNP,SNVindel,exonic,CFHR4,NA,nonsynonymous SNV,"CFHR4:NM_001201550:exon2:c.G119A:p.R40H,CFHR4:NM_001201551:exon2:c.G116A:p.R39H,CFHR4:NM_006684:exon2:c.G119A:p.R40H",T,.,N,T,N,T
chr1,202127302,202127302,G,A,R014_S,PTPN7,Missense_Mutation,NM_001364878,exon2,c.C250T,p.R84C,SNP,SNVindel,exonic,PTPN7,NA,nonsynonymous SNV,"PTPN7:NM_001364878:exon2:c.C250T:p.R84C,PTPN7:NM_080588:exon2:c.C367T:p.R123C,PTPN7:NM_001199797:exon3:c.C472T:p.R158C,PTPN7:NM_001364877:exon3:c.C250T:p.R84C,PTPN7:NM_002832:exon3:c.C565T:p.R189C",D,N,N,T,D,T
chr1,220978406,220978406,G,A,R014_S,1-Mar,Missense_Mutation,NM_022746,exon5,c.G766A,p.E256K,SNP,SNVindel,exonic,1-Mar,NA,nonsynonymous SNV,MARC1:NM_022746:exon5:c.G766A:p.E256K,T,N,N,T,D,T
chr1,228003900,228003900,C,T,R014_S,PRSS38,Silent,NM_183062,exon2,c.C258T,p.G86G,SNP,SNVindel,exonic,PRSS38,NA,synonymous SNV,PRSS38:NM_183062:exon2:c.C258T:p.G86G,NA,NA,NA,NA,NA,NA
chr1,228612921,228612921,C,T,R014_S,HIST3H3,Missense_Mutation,NM_003493,exon1,c.G106A,p.V36M,SNP,SNVindel,exonic,HIST3H3,NA,nonsynonymous SNV,HIST3H3:NM_003493:exon1:c.G106A:p.V36M,.,N,N,T,D,T
chr1,228645201,228645201,A,G,R014_S,HIST3H2A,Silent,NM_033445,exon1,c.T318C,p.G106G,SNP,SNVindel,exonic,HIST3H2A,NA,synonymous SNV,HIST3H2A:NM_033445:exon1:c.T318C:p.G106G,NA,NA,NA,NA,NA,NA
chr1,229438650,229438650,G,A,R014_S,RAB4A,Missense_Mutation,NM_001271998,exon5,c.G268A,p.G90R,SNP,SNVindel,exonic,RAB4A,NA,nonsynonymous SNV,"RAB4A:NM_001271998:exon5:c.G268A:p.G90R,RAB4A:NM_004578:exon7:c.G583A:p.G195R",T,D,D,T,D,T
chr1,248366386,248366386,C,T,R014_S,OR2M3,Missense_Mutation,NM_001004689,exon1,c.C17T,p.S6L,SNP,SNVindel,exonic,OR2M3,NA,nonsynonymous SNV,OR2M3:NM_001004689:exon1:c.C17T:p.S6L,T,U,N,T,N,T
chr2,25457216,25457216,G,A,R014_S,DNMT3A,Missense_Mutation,NM_001320893,exon18,c.C2215T,p.R739W,SNP,SNVindel,exonic,DNMT3A,NA,nonsynonymous SNV,"DNMT3A:NM_001320893:exon18:c.C2215T:p.R739W,DNMT3A:NM_153759:exon19:c.C2104T:p.R702W,DNMT3A:NM_022552:exon23:c.C2671T:p.R891W,DNMT3A:NM_175629:exon23:c.C2671T:p.R891W",D,N,D,D,D,D
chr2,26698272,26698272,G,A,R014_S,OTOF,Silent,NM_194322,exon7,c.C1011T,p.D337D,SNP,SNVindel,exonic,OTOF,NA,synonymous SNV,"OTOF:NM_194322:exon7:c.C1011T:p.D337D,OTOF:NM_004802:exon8:c.C840T:p.D280D,OTOF:NM_194323:exon8:c.C840T:p.D280D,OTOF:NM_001287489:exon25:c.C3081T:p.D1027D,OTOF:NM_194248:exon25:c.C3081T:p.D1027D",NA,NA,NA,NA,NA,NA
chr2,40342723,40342723,G,A,R014_S,SLC8A1,Silent,NM_001112802,exon8,c.C2484T,p.D828D,SNP,SNVindel,exonic,SLC8A1,NA,synonymous SNV,"SLC8A1:NM_001112802:exon8:c.C2484T:p.D828D,SLC8A1:NM_001351490:exon8:c.C2487T:p.D829D,SLC8A1:NM_001351491:exon8:c.C2487T:p.D829D,SLC8A1:NM_001351492:exon8:c.C2487T:p.D829D,SLC8A1:NM_001351494:exon8:c.C2484T:p.D828D,SLC8A1:NM_001112800:exon9:c.C2577T:p.D859D,SLC8A1:NM_001112801:exon9:c.C2553T:p.D851D,SLC8A1:NM_001252624:exon9:c.C2568T:p.D856D,SLC8A1:NM_001351483:exon9:c.C2508T:p.D836D,SLC8A1:NM_001351484:exon9:c.C2508T:p.D836D,SLC8A1:NM_001351485:exon9:c.C2508T:p.D836D,SLC8A1:NM_001351486:exon9:c.C2505T:p.D835D,SLC8A1:NM_001351487:exon9:c.C2556T:p.D852D,SLC8A1:NM_001351488:exon9:c.C2556T:p.D852D,SLC8A1:NM_001351489:exon9:c.C2556T:p.D852D,SLC8A1:NM_001351493:exon10:c.C2568T:p.D856D,SLC8A1:NM_021097:exon10:c.C2592T:p.D864D",NA,NA,NA,NA,NA,NA
chr2,56419948,56419948,C,T,R014_S,CCDC85A,Missense_Mutation,NM_001080433,exon2,c.C613T,p.R205W,SNP,SNVindel,exonic,CCDC85A,NA,nonsynonymous SNV,"CCDC85A:NM_001080433:exon2:c.C613T:p.R205W,CCDC85A:NM_001348512:exon2:c.C613T:p.R205W,CCDC85A:NM_001348513:exon2:c.C613T:p.R205W,CCDC85A:NM_001348514:exon2:c.C613T:p.R205W,CCDC85A:NM_001348515:exon2:c.C613T:p.R205W,CCDC85A:NM_001348516:exon2:c.C613T:p.R205W",D,D,D,.,D,T
chr2,79385584,79385584,G,A,R014_S,REG3A,Silent,NM_138938,exon3,c.C201T,p.A67A,SNP,SNVindel,exonic,REG3A,NA,synonymous SNV,"REG3A:NM_138938:exon3:c.C201T:p.A67A,REG3A:NM_002580:exon4:c.C201T:p.A67A,REG3A:NM_138937:exon4:c.C201T:p.A67A",NA,NA,NA,NA,NA,NA
chr2,80529616,80529616,G,T,R014_S,LRRTM1,Silent,NM_178839,exon2,c.C1329A,p.V443V,SNP,SNVindel,exonic,LRRTM1,NA,synonymous SNV,LRRTM1:NM_178839:exon2:c.C1329A:p.V443V,NA,NA,NA,NA,NA,NA
chr2,110015264,110015264,G,A,R014_S,SH3RF3,Silent,NM_001099289,exon4,c.G1164A,p.T388T,SNP,SNVindel,exonic,SH3RF3,NA,synonymous SNV,SH3RF3:NM_001099289:exon4:c.G1164A:p.T388T,NA,NA,NA,NA,NA,NA
chr2,119699963,119699963,C,T,R014_S,MARCO,Silent,NM_006770,exon1,c.C87T,p.F29F,SNP,SNVindel,exonic,MARCO,NA,synonymous SNV,MARCO:NM_006770:exon1:c.C87T:p.F29F,NA,NA,NA,NA,NA,NA
chr2,127821221,127821221,G,A,R014_S,BIN1,Missense_Mutation,NM_001320632,exon8,c.C607T,p.R203C,SNP,SNVindel,exonic,BIN1,NA,nonsynonymous SNV,"BIN1:NM_001320632:exon8:c.C607T:p.R203C,BIN1:NM_001320634:exon8:c.C535T:p.R179C,BIN1:NM_001320641:exon8:c.C607T:p.R203C,BIN1:NM_004305:exon8:c.C607T:p.R203C,BIN1:NM_139346:exon8:c.C607T:p.R203C,BIN1:NM_139347:exon8:c.C607T:p.R203C,BIN1:NM_139348:exon8:c.C607T:p.R203C,BIN1:NM_139349:exon8:c.C607T:p.R203C,BIN1:NM_139350:exon8:c.C607T:p.R203C,BIN1:NM_139351:exon8:c.C607T:p.R203C,BIN1:NM_001320633:exon9:c.C700T:p.R234C,BIN1:NM_001320640:exon9:c.C700T:p.R234C,BIN1:NM_001320642:exon9:c.C619T:p.R207C,BIN1:NM_139343:exon9:c.C700T:p.R234C,BIN1:NM_139344:exon9:c.C700T:p.R234C,BIN1:NM_139345:exon9:c.C700T:p.R234C",D,D,D,T,D,D
chr2,136566277,136566277,C,T,R014_S,LCT,Missense_Mutation,NM_002299,exon8,c.G3640A,p.V1214M,SNP,SNVindel,exonic,LCT,NA,nonsynonymous SNV,LCT:NM_002299:exon8:c.G3640A:p.V1214M,T,D,D,T,N,T
chr2,141459349,141459349,C,G,R014_S,LRP1B,Missense_Mutation,NM_018557,exon40,c.G6368C,p.R2123T,SNP,SNVindel,exonic,LRP1B,NA,nonsynonymous SNV,LRP1B:NM_018557:exon40:c.G6368C:p.R2123T,T,U,D,D,D,D
chr2,152474871,152474871,C,T,R014_S,NEB,Missense_Mutation,NM_004543,exon71,c.G10265A,p.R3422H,SNP,SNVindel,exonic,NEB,NA,nonsynonymous SNV,"NEB:NM_004543:exon71:c.G10265A:p.R3422H,NEB:NM_001164507:exon74:c.G10994A:p.R3665H,NEB:NM_001164508:exon74:c.G10994A:p.R3665H,NEB:NM_001271208:exon74:c.G10994A:p.R3665H",T,N,N,T,N,T
chr2,168812060,168812060,C,T,R014_S,STK39,Silent,NM_013233,exon18,c.G1584A,p.S528S,SNP,SNVindel,exonic,STK39,NA,synonymous SNV,STK39:NM_013233:exon18:c.G1584A:p.S528S,NA,NA,NA,NA,NA,NA
chr2,188343466,188343466,G,A,R014_S,TFPI,Silent,NM_001032281,exon7,c.C693T,p.N231N,SNP,SNVindel,exonic,TFPI,NA,synonymous SNV,"TFPI:NM_001032281:exon7:c.C693T:p.N231N,TFPI:NM_001318941:exon8:c.C693T:p.N231N",NA,NA,NA,NA,NA,NA
chr2,193056690,193056690,G,C,R014_S,TMEFF2,Silent,NM_001305134,exon2,c.C198G,p.L66L,SNP,SNVindel,exonic,TMEFF2,NA,synonymous SNV,"TMEFF2:NM_001305134:exon2:c.C198G:p.L66L,TMEFF2:NM_001305145:exon2:c.C198G:p.L66L,TMEFF2:NM_016192:exon2:c.C198G:p.L66L",NA,NA,NA,NA,NA,NA
chr2,202339375,202339375,C,T,R014_S,STRADB,Silent,NM_001206864,exon6,c.C321T,p.A107A,SNP,SNVindel,exonic,STRADB,NA,synonymous SNV,"STRADB:NM_001206864:exon6:c.C321T:p.A107A,STRADB:NM_018571:exon6:c.C321T:p.A107A",NA,NA,NA,NA,NA,NA
chr2,210761059,210761059,C,T,R014_S,UNC80,Silent,NM_032504,exon27,c.C4305T,p.S1435S,SNP,SNVindel,exonic,UNC80,NA,synonymous SNV,"UNC80:NM_032504:exon27:c.C4305T:p.S1435S,UNC80:NM_182587:exon27:c.C4290T:p.S1430S",NA,NA,NA,NA,NA,NA
chr2,211518805,211518805,C,T,R014_S,CPS1,Silent,NM_001875,exon29,c.C3537T,p.D1179D,SNP,SNVindel,exonic,CPS1,NA,synonymous SNV,"CPS1:NM_001875:exon29:c.C3537T:p.D1179D,CPS1:NM_001122633:exon30:c.C3537T:p.D1179D,CPS1:NM_001369256:exon30:c.C3570T:p.D1190D,CPS1:NM_001369257:exon31:c.C3537T:p.D1179D",NA,NA,NA,NA,NA,NA
chr2,215928825,215928825,C,T,R014_S,ABCA12,Missense_Mutation,NM_173076,exon3,c.G281A,p.R94H,SNP,SNVindel,exonic,ABCA12,NA,nonsynonymous SNV,ABCA12:NM_173076:exon3:c.G281A:p.R94H,T,N,N,D,N,T
chr2,230910792,230910792,G,A,R014_S,SLC16A14,Silent,NM_152527,exon4,c.C1050T,p.N350N,SNP,SNVindel,exonic,SLC16A14,NA,synonymous SNV,SLC16A14:NM_152527:exon4:c.C1050T:p.N350N,NA,NA,NA,NA,NA,NA
chr2,233271808,233271808,G,A,R014_S,ALPG,Missense_Mutation,NM_031313,exon2,c.G109A,p.E37K,SNP,SNVindel,exonic,ALPG,NA,nonsynonymous SNV,ALPG:NM_031313:exon2:c.G109A:p.E37K,T,N,N,T,N,T
chr2,233422669,233422669,C,T,R014_S,EIF4E2,Missense_Mutation,NM_001276336,exon3,c.C211T,p.R71C,SNP,SNVindel,exonic,EIF4E2,NA,nonsynonymous SNV,"EIF4E2:NM_001276336:exon3:c.C211T:p.R71C,EIF4E2:NM_001282958:exon3:c.C211T:p.R71C,EIF4E2:NM_001330202:exon3:c.C196T:p.R66C,EIF4E2:NM_004846:exon3:c.C211T:p.R71C",D,D,D,T,D,T
chr2,237489298,237489298,G,A,R014_S,ACKR3,Missense_Mutation,NM_020311,exon2,c.G190A,p.V64M,SNP,SNVindel,exonic,ACKR3,NA,nonsynonymous SNV,ACKR3:NM_020311:exon2:c.G190A:p.V64M,T,D,D,T,N,T
chr3,4808230,4808230,G,A,R014_S,ITPR1,Missense_Mutation,NM_002222,exon41,c.G5372A,p.R1791H,SNP,SNVindel,exonic,ITPR1,NA,nonsynonymous SNV,"ITPR1:NM_002222:exon41:c.G5372A:p.R1791H,ITPR1:NM_001099952:exon42:c.G5417A:p.R1806H,ITPR1:NM_001168272:exon44:c.G5516A:p.R1839H",T,D,D,D,D,D
chr3,13679117,13679117,C,T,R014_S,FBLN2,Missense_Mutation,NM_001998,exon17,c.C3253T,p.R1085C,SNP,SNVindel,exonic,FBLN2,NA,nonsynonymous SNV,"FBLN2:NM_001998:exon17:c.C3253T:p.R1085C,FBLN2:NM_001004019:exon18:c.C3394T:p.R1132C,FBLN2:NM_001165035:exon18:c.C3394T:p.R1132C",D,D,D,T,D,D
chr3,36887799,36887799,C,T,R014_S,TRANK1,Missense_Mutation,NM_014831,exon16,c.G4999A,p.A1667T,SNP,SNVindel,exonic,TRANK1,NA,nonsynonymous SNV,"TRANK1:NM_014831:exon16:c.G4999A:p.A1667T,TRANK1:NM_001329998:exon17:c.G5131A:p.A1711T",T,D,D,D,N,D
chr3,49568368,49568368,G,A,R014_S,DAG1,Missense_Mutation,NM_001177639,exon3,c.G424A,p.G142R,SNP,SNVindel,exonic,DAG1,NA,nonsynonymous SNV,"DAG1:NM_001177639:exon3:c.G424A:p.G142R,DAG1:NM_001177643:exon3:c.G424A:p.G142R,DAG1:NM_001177644:exon3:c.G424A:p.G142R,DAG1:NM_004393:exon3:c.G424A:p.G142R,DAG1:NM_001177635:exon4:c.G424A:p.G142R,DAG1:NM_001177637:exon4:c.G424A:p.G142R,DAG1:NM_001177638:exon4:c.G424A:p.G142R,DAG1:NM_001177640:exon4:c.G424A:p.G142R,DAG1:NM_001177641:exon4:c.G424A:p.G142R,DAG1:NM_001177642:exon4:c.G424A:p.G142R,DAG1:NM_001177636:exon5:c.G424A:p.G142R,DAG1:NM_001165928:exon6:c.G424A:p.G142R,DAG1:NM_001177634:exon6:c.G424A:p.G142R",D,D,D,D,N,D
chr3,52255239,52255239,G,A,R014_S,TLR9,Silent,NM_017442,exon2,c.C3093T,p.A1031A,SNP,SNVindel,exonic,TLR9,NA,synonymous SNV,TLR9:NM_017442:exon2:c.C3093T:p.A1031A,NA,NA,NA,NA,NA,NA
chr3,87017956,87017956,G,A,R014_S,VGLL3,Missense_Mutation,NM_001320493,exon3,c.C721T,p.R241C,SNP,SNVindel,exonic,VGLL3,NA,nonsynonymous SNV,"VGLL3:NM_001320493:exon3:c.C721T:p.R241C,VGLL3:NM_001320494:exon3:c.C562T:p.R188C,VGLL3:NM_016206:exon3:c.C721T:p.R241C",T,N,N,T,N,T
chr3,98002527,98002527,C,T,R014_S,OR5H2,Missense_Mutation,NM_001005482,exon1,c.C796T,p.R266C,SNP,SNVindel,exonic,OR5H2,NA,nonsynonymous SNV,OR5H2:NM_001005482:exon1:c.C796T:p.R266C,T,U,N,T,D,T
chr3,101044872,101044872,C,T,R014_S,SENP7,Missense_Mutation,NM_001282803,exon21,c.G2576A,p.R859H,SNP,SNVindel,exonic,SENP7,NA,nonsynonymous SNV,"SENP7:NM_001282803:exon21:c.G2576A:p.R859H,SENP7:NM_001077203:exon23:c.G2873A:p.R958H,SENP7:NM_001282801:exon23:c.G2870A:p.R957H,SENP7:NM_001282802:exon23:c.G2969A:p.R990H,SENP7:NM_020654:exon24:c.G3068A:p.R1023H",D,D,D,T,D,T
chr3,112282271,112282271,T,C,R014_S,SLC35A5,Silent,NM_001348905,exon2,c.T21C,p.S7S,SNP,SNVindel,exonic,SLC35A5,NA,synonymous SNV,"SLC35A5:NM_001348905:exon2:c.T21C:p.S7S,SLC35A5:NM_001348906:exon2:c.T21C:p.S7S,SLC35A5:NM_001348907:exon2:c.T21C:p.S7S,SLC35A5:NM_001348910:exon2:c.T21C:p.S7S,SLC35A5:NM_001348911:exon2:c.T21C:p.S7S,SLC35A5:NM_017945:exon2:c.T21C:p.S7S",NA,NA,NA,NA,NA,NA
chr3,123633741,123633741,G,A,R014_S,CCDC14,Missense_Mutation,NM_001366336,exon9,c.C2147T,p.S716L,SNP,SNVindel,exonic,CCDC14,NA,nonsynonymous SNV,"CCDC14:NM_001366336:exon9:c.C2147T:p.S716L,CCDC14:NM_001366338:exon9:c.C1718T:p.S573L,CCDC14:NM_001366339:exon10:c.C2264T:p.S755L,CCDC14:NM_001366337:exon11:c.C2147T:p.S716L,CCDC14:NM_001308317:exon12:c.C2147T:p.S716L,CCDC14:NM_022757:exon12:c.C2480T:p.S827L,CCDC14:NM_001366335:exon13:c.C2603T:p.S868L",D,D,D,T,D,T
chr3,138426007,138426007,G,A,R014_S,PIK3CB,Silent,NM_001256045,exon1,c.C111T,p.F37F,SNP,SNVindel,exonic,PIK3CB,NA,synonymous SNV,"PIK3CB:NM_001256045:exon1:c.C111T:p.F37F,PIK3CB:NM_006219:exon11:c.C1524T:p.F508F",NA,NA,NA,NA,NA,NA
chr3,142840344,142840344,C,A,R014_S,CHST2,Missense_Mutation,NM_004267,exon2,c.C686A,p.S229Y,SNP,SNVindel,exonic,CHST2,NA,nonsynonymous SNV,CHST2:NM_004267:exon2:c.C686A:p.S229Y,T,N,D,T,D,D
chr3,168834247,168834247,G,A,R014_S,MECOM,Silent,NM_001105078,exon7,c.C849T,p.G283G,SNP,SNVindel,exonic,MECOM,NA,synonymous SNV,"MECOM:NM_001105078:exon7:c.C849T:p.G283G,MECOM:NM_001163999:exon7:c.C852T:p.G284G,MECOM:NM_001164000:exon7:c.C849T:p.G283G,MECOM:NM_001205194:exon7:c.C849T:p.G283G,MECOM:NM_001366467:exon7:c.C852T:p.G284G,MECOM:NM_001366468:exon7:c.C852T:p.G284G,MECOM:NM_001366469:exon7:c.C849T:p.G283G,MECOM:NM_001366470:exon7:c.C852T:p.G284G,MECOM:NM_001366471:exon7:c.C849T:p.G283G,MECOM:NM_001366472:exon7:c.C849T:p.G283G,MECOM:NM_005241:exon7:c.C849T:p.G283G,MECOM:NM_001105077:exon8:c.C1044T:p.G348G,MECOM:NM_001366466:exon8:c.C1413T:p.G471G,MECOM:NM_004991:exon8:c.C1413T:p.G471G",NA,NA,NA,NA,NA,NA
chr3,182871853,182871853,C,T,R014_S,LAMP3,Missense_Mutation,NM_014398,exon2,c.G376A,p.G126S,SNP,SNVindel,exonic,LAMP3,NA,nonsynonymous SNV,LAMP3:NM_014398:exon2:c.G376A:p.G126S,T,N,N,T,D,T
chr3,196736664,196736664,C,T,R014_S,MELTF,Silent,NM_005929,exon11,c.G1350A,p.S450S,SNP,SNVindel,exonic,MELTF,NA,synonymous SNV,MELTF:NM_005929:exon11:c.G1350A:p.S450S,NA,NA,NA,NA,NA,NA
chr4,86668,86668,C,T,R014_S,ZNF595,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZNF595,NA,unknown,UNKNOWN,.,.,.,.,.,.
chr4,4322711,4322711,C,T,R014_S,ZBTB49,Missense_Mutation,NM_001330625,exon8,c.C1966T,p.R656W,SNP,SNVindel,exonic,ZBTB49,NA,nonsynonymous SNV,"ZBTB49:NM_001330625:exon8:c.C1966T:p.R656W,ZBTB49:NM_145291:exon8:c.C1966T:p.R656W",D,N,N,T,N,T
chr4,20543241,20543241,C,T,R014_S,SLIT2,Silent,NM_001289135,exon19,c.C2130T,p.D710D,SNP,SNVindel,exonic,SLIT2,NA,synonymous SNV,"SLIT2:NM_001289135:exon19:c.C2130T:p.D710D,SLIT2:NM_001289136:exon19:c.C2118T:p.D706D,SLIT2:NM_004787:exon20:c.C2142T:p.D714D",NA,NA,NA,NA,NA,NA
chr4,20599945,20599945,G,A,R014_S,SLIT2,Missense_Mutation,NM_001289135,exon32,c.G3607A,p.A1203T,SNP,SNVindel,exonic,SLIT2,NA,nonsynonymous SNV,"SLIT2:NM_001289135:exon32:c.G3607A:p.A1203T,SLIT2:NM_001289136:exon32:c.G3595A:p.A1199T,SLIT2:NM_004787:exon33:c.G3619A:p.A1207T",D,D,D,T,D,D
chr4,70512952,70512952,T,C,R014_S,UGT2A1,Silent,NM_001301239,exon1,c.A411G,p.A137A,SNP,SNVindel,exonic,UGT2A1,NA,synonymous SNV,"UGT2A1:NM_001301239:exon1:c.A411G:p.A137A,UGT2A1:NM_001252274:exon2:c.A411G:p.A137A,UGT2A1:NM_001252275:exon2:c.A411G:p.A137A,UGT2A1:NM_006798:exon2:c.A411G:p.A137A",NA,NA,NA,NA,NA,NA
chr4,72363290,72363290,G,A,R014_S,SLC4A4,Missense_Mutation,NM_003759,exon13,c.G1915A,p.G639R,SNP,SNVindel,exonic,SLC4A4,NA,nonsynonymous SNV,"SLC4A4:NM_003759:exon13:c.G1915A:p.G639R,SLC4A4:NM_001098484:exon16:c.G2047A:p.G683R,SLC4A4:NM_001134742:exon16:c.G2047A:p.G683R",D,D,D,T,D,D
chr4,76794285,76794285,G,A,R014_S,PPEF2,Missense_Mutation,NM_006239,exon12,c.C1501T,p.R501C,SNP,SNVindel,exonic,PPEF2,NA,nonsynonymous SNV,PPEF2:NM_006239:exon12:c.C1501T:p.R501C,D,D,D,T,D,T
chr4,76895250,76895250,T,G,R014_S,SDAD1,Silent,NM_001288983,exon6,c.A504C,p.A168A,SNP,SNVindel,exonic,SDAD1,NA,synonymous SNV,"SDAD1:NM_001288983:exon6:c.A504C:p.A168A,SDAD1:NM_001288984:exon7:c.A324C:p.A108A,SDAD1:NM_018115:exon7:c.A615C:p.A205A",NA,NA,NA,NA,NA,NA
chr4,79393392,79393392,C,T,R014_S,FRAS1,Missense_Mutation,NM_025074,exon52,c.C7430T,p.A2477V,SNP,SNVindel,exonic,FRAS1,NA,nonsynonymous SNV,FRAS1:NM_025074:exon52:c.C7430T:p.A2477V,.,N,N,.,.,T
chr4,88584463,88584463,C,T,R014_S,DMP1,Silent,NM_001079911,exon5,c.C1485T,p.D495D,SNP,SNVindel,exonic,DMP1,NA,synonymous SNV,"DMP1:NM_001079911:exon5:c.C1485T:p.D495D,DMP1:NM_004407:exon6:c.C1533T:p.D511D",NA,NA,NA,NA,NA,NA
chr4,114823668,114823668,C,T,R014_S,ARSJ,Missense_Mutation,NM_001354210,exon2,c.G1562A,p.R521Q,SNP,SNVindel,exonic,ARSJ,NA,nonsynonymous SNV,"ARSJ:NM_001354210:exon2:c.G1562A:p.R521Q,ARSJ:NM_024590:exon2:c.G1562A:p.R521Q,ARSJ:NM_001354211:exon6:c.G1214A:p.R405Q",T,N,N,D,N,T
chr4,170674923,170674923,G,A,R014_S,HPF1,Nonsense_Mutation,NM_017867,exon2,c.C112T,p.R38X,SNP,SNVindel,exonic,HPF1,NA,stopgain,HPF1:NM_017867:exon2:c.C112T:p.R38X,.,D,A,.,.,.
chr4,174242816,174242816,A,G,R014_S,GALNT7,Missense_Mutation,NM_017423,exon12,c.A1922G,p.D641G,SNP,SNVindel,exonic,GALNT7,NA,nonsynonymous SNV,GALNT7:NM_017423:exon12:c.A1922G:p.D641G,D,D,D,T,D,T
chr5,10638220,10638220,G,A,R014_S,ANKRD33B,Missense_Mutation,NM_001164440,exon3,c.G577A,p.A193T,SNP,SNVindel,exonic,ANKRD33B,NA,nonsynonymous SNV,ANKRD33B:NM_001164440:exon3:c.G577A:p.A193T,D,D,D,T,D,T
chr5,19483505,19483505,C,T,R014_S,CDH18,Missense_Mutation,NM_001167667,exon12,c.G1678A,p.V560M,SNP,SNVindel,exonic,CDH18,NA,nonsynonymous SNV,"CDH18:NM_001167667:exon12:c.G1678A:p.V560M,CDH18:NM_001291957:exon12:c.G1681A:p.V561M,CDH18:NM_001349559:exon12:c.G1787A:p.R596H,CDH18:NM_001349560:exon12:c.G1681A:p.V561M,CDH18:NM_001349561:exon12:c.G1678A:p.V560M,CDH18:NM_004934:exon12:c.G1787A:p.R596H,CDH18:NM_001349556:exon13:c.G1787A:p.R596H,CDH18:NM_001349562:exon13:c.G1118A:p.R373H,CDH18:NM_001349563:exon13:c.G1118A:p.R373H,CDH18:NM_001291956:exon14:c.G1787A:p.R596H,CDH18:NM_001349558:exon15:c.G1787A:p.R596H",T,D,D,T,N,T
chr5,31468136,31468136,C,T,R014_S,DROSHA,Missense_Mutation,NM_001100412,exon17,c.G2165A,p.R722H,SNP,SNVindel,exonic,DROSHA,NA,nonsynonymous SNV,"DROSHA:NM_001100412:exon17:c.G2165A:p.R722H,DROSHA:NM_013235:exon17:c.G2276A:p.R759H",D,D,D,T,D,T
chr5,32074487,32074487,G,A,R014_S,PDZD2,Missense_Mutation,NM_178140,exon18,c.G3275A,p.R1092H,SNP,SNVindel,exonic,PDZD2,NA,nonsynonymous SNV,PDZD2:NM_178140:exon18:c.G3275A:p.R1092H,T,N,N,T,N,T
chr5,75886292,75886292,G,A,R014_S,IQGAP2,Missense_Mutation,NM_001285460,exon7,c.G550A,p.V184I,SNP,SNVindel,exonic,IQGAP2,NA,nonsynonymous SNV,"IQGAP2:NM_001285460:exon7:c.G550A:p.V184I,IQGAP2:NM_006633:exon8:c.G700A:p.V234I",T,N,D,T,N,T
chr5,132046683,132046683,C,T,R014_S,KIF3A,Missense_Mutation,NM_001300791,exon9,c.G1196A,p.G399E,SNP,SNVindel,exonic,KIF3A,NA,nonsynonymous SNV,"KIF3A:NM_001300791:exon9:c.G1196A:p.G399E,KIF3A:NM_001300792:exon9:c.G1196A:p.G399E,KIF3A:NM_007054:exon9:c.G1196A:p.G399E",T,D,D,T,N,T
chr5,140229205,140229205,C,T,R014_S,PCDHA9,Silent,NM_014005,exon1,c.C1125T,p.I375I,SNP,SNVindel,exonic,PCDHA9,NA,synonymous SNV,"PCDHA9:NM_014005:exon1:c.C1125T:p.I375I,PCDHA9:NM_031857:exon1:c.C1125T:p.I375I",NA,NA,NA,NA,NA,NA
chr5,140744742,140744742,G,A,R014_S,PCDHGA5,Missense_Mutation,NM_018918,exon1,c.G845A,p.R282H,SNP,SNVindel,exonic,PCDHGA5,NA,nonsynonymous SNV,"PCDHGA5:NM_018918:exon1:c.G845A:p.R282H,PCDHGA5:NM_032054:exon1:c.G845A:p.R282H",T,.,N,T,D,T
chr5,149918888,149918888,C,T,R014_S,NDST1,Silent,NM_001301063,exon7,c.C1536T,p.G512G,SNP,SNVindel,exonic,NDST1,NA,synonymous SNV,"NDST1:NM_001301063:exon7:c.C1536T:p.G512G,NDST1:NM_001543:exon7:c.C1536T:p.G512G",NA,NA,NA,NA,NA,NA
chr5,153030051,153030051,C,T,R014_S,GRIA1,Missense_Mutation,NM_001258019,exon3,c.C382T,p.R128C,SNP,SNVindel,exonic,GRIA1,NA,nonsynonymous SNV,"GRIA1:NM_001258019:exon3:c.C382T:p.R128C,GRIA1:NM_000827:exon4:c.C622T:p.R208C,GRIA1:NM_001114183:exon4:c.C622T:p.R208C,GRIA1:NM_001258021:exon4:c.C652T:p.R218C,GRIA1:NM_001258022:exon4:c.C652T:p.R218C,GRIA1:NM_001258023:exon4:c.C415T:p.R139C,GRIA1:NM_001364165:exon4:c.C622T:p.R208C,GRIA1:NM_001364167:exon4:c.C415T:p.R139C,GRIA1:NM_001258020:exon5:c.C337T:p.R113C,GRIA1:NM_001364166:exon5:c.C649T:p.R217C",D,D,D,D,D,D
chr5,166802371,166802371,G,T,R014_S,TENM2,Missense_Mutation,NM_001122679,exon3,c.G395T,p.W132L,SNP,SNVindel,exonic,TENM2,NA,nonsynonymous SNV,TENM2:NM_001122679:exon3:c.G395T:p.W132L,D,.,D,T,D,T
chr5,168189645,168189645,G,A,R014_S,SLIT3,Silent,NM_001271946,exon15,c.C1509T,p.L503L,SNP,SNVindel,exonic,SLIT3,NA,synonymous SNV,"SLIT3:NM_001271946:exon15:c.C1509T:p.L503L,SLIT3:NM_003062:exon15:c.C1509T:p.L503L",NA,NA,NA,NA,NA,NA
chr5,179264550,179264550,G,A,R014_S,MRNIP,Silent,NM_001017987,exon5,c.C708T,p.P236P,SNP,SNVindel,exonic,MRNIP,NA,synonymous SNV,"MRNIP:NM_001017987:exon5:c.C708T:p.P236P,MRNIP:NM_016175:exon7:c.C873T:p.P291P",NA,NA,NA,NA,NA,NA
chr6,348863,348863,G,A,R014_S,DUSP22,Missense_Mutation,NM_001286555,exon7,c.G530A,p.R177H,SNP,SNVindel,exonic,DUSP22,NA,nonsynonymous SNV,DUSP22:NM_001286555:exon7:c.G530A:p.R177H,.,.,N,T,.,.
chr6,10756712,10756712,C,T,R014_S,TMEM14B,Silent,NM_001127711,exon5,c.C204T,p.A68A,SNP,SNVindel,exonic,TMEM14B,NA,synonymous SNV,"TMEM14B:NM_001127711:exon5:c.C204T:p.A68A,TMEM14B:NM_001286484:exon5:c.C273T:p.A91A,TMEM14B:NM_030969:exon6:c.C306T:p.A102A",.,.,D,T,N,T
chr6,33625772,33625772,G,A,R014_S,ITPR3,Missense_Mutation,NM_002224,exon4,c.G346A,p.V116M,SNP,SNVindel,exonic,ITPR3,NA,nonsynonymous SNV,ITPR3:NM_002224:exon4:c.G346A:p.V116M,D,N,D,D,N,D
chr6,33626839,33626839,C,T,R014_S,ITPR3,Silent,NM_002224,exon6,c.C570T,p.A190A,SNP,SNVindel,exonic,ITPR3,NA,synonymous SNV,ITPR3:NM_002224:exon6:c.C570T:p.A190A,NA,NA,NA,NA,NA,NA
chr6,36336753,36336753,G,A,R014_S,ETV7,Nonsense_Mutation,NM_001207041,exon4,c.C307T,p.R103X,SNP,SNVindel,exonic,ETV7,NA,stopgain,"ETV7:NM_001207041:exon4:c.C307T:p.R103X,ETV7:NM_001207036:exon5:c.C595T:p.R199X,ETV7:NM_001207038:exon5:c.C529T:p.R177X,ETV7:NM_001207039:exon5:c.C595T:p.R199X,ETV7:NM_001207040:exon5:c.C517T:p.R173X,ETV7:NM_001207035:exon6:c.C760T:p.R254X,ETV7:NM_001207037:exon6:c.C583T:p.R195X,ETV7:NM_016135:exon6:c.C760T:p.R254X",.,U,A,.,.,.
chr6,44122129,44122129,G,C,R014_S,TMEM63B,Missense_Mutation,NM_001318792,exon23,c.G2254C,p.D752H,SNP,SNVindel,exonic,TMEM63B,NA,nonsynonymous SNV,"TMEM63B:NM_001318792:exon23:c.G2254C:p.D752H,TMEM63B:NM_018426:exon23:c.G2254C:p.D752H",D,N,N,T,N,T
chr6,52770626,52770626,C,T,R014_S,GSTA3,Missense_Mutation,NM_000847,exon2,c.G7A,p.G3R,SNP,SNVindel,exonic,GSTA3,NA,nonsynonymous SNV,GSTA3:NM_000847:exon2:c.G7A:p.G3R,D,N,D,T,D,T
chr6,90077779,90077779,A,G,R014_S,RRAGD,Missense_Mutation,NM_021244,exon7,c.T1199C,p.L400P,SNP,SNVindel,exonic,RRAGD,NA,nonsynonymous SNV,RRAGD:NM_021244:exon7:c.T1199C:p.L400P,D,D,D,.,N,T
chr6,116757244,116757244,G,A,R014_S,DSE,Missense_Mutation,NM_001080976,exon6,c.G1613A,p.R538Q,SNP,SNVindel,exonic,DSE,NA,nonsynonymous SNV,"DSE:NM_001080976:exon6:c.G1613A:p.R538Q,DSE:NM_001322939:exon6:c.G1670A:p.R557Q,DSE:NM_001322941:exon6:c.G1052A:p.R351Q,DSE:NM_013352:exon6:c.G1613A:p.R538Q,DSE:NM_001322937:exon7:c.G1613A:p.R538Q,DSE:NM_001322938:exon7:c.G1613A:p.R538Q,DSE:NM_001322940:exon7:c.G1052A:p.R351Q",T,D,D,T,N,T
chr6,158348187,158348187,G,A,R014_S,SNX9,Silent,NM_016224,exon11,c.G1125A,p.A375A,SNP,SNVindel,exonic,SNX9,NA,synonymous SNV,SNX9:NM_016224:exon11:c.G1125A:p.A375A,NA,NA,NA,NA,NA,NA
chr7,1578833,1578833,C,T,R014_S,MAFK,Missense_Mutation,NM_002360,exon2,c.C5T,p.T2M,SNP,SNVindel,exonic,MAFK,NA,nonsynonymous SNV,MAFK:NM_002360:exon2:c.C5T:p.T2M,D,D,D,D,N,T
chr7,6026863,6026863,C,T,R014_S,PMS2,Silent,NM_001322008,exon9,c.G1215A,p.T405T,SNP,SNVindel,exonic,PMS2,NA,synonymous SNV,"PMS2:NM_001322008:exon9:c.G1215A:p.T405T,PMS2:NM_001322010:exon9:c.G972A:p.T324T,PMS2:NM_001322004:exon10:c.G1128A:p.T376T,PMS2:NM_001322006:exon10:c.G1377A:p.T459T,PMS2:NM_001322007:exon10:c.G1215A:p.T405T,PMS2:NM_001322013:exon10:c.G960A:p.T320T,PMS2:NM_000535:exon11:c.G1533A:p.T511T,PMS2:NM_001322003:exon11:c.G1128A:p.T376T,PMS2:NM_001322005:exon11:c.G1128A:p.T376T,PMS2:NM_001322009:exon11:c.G1128A:p.T376T,PMS2:NM_001322011:exon11:c.G600A:p.T200T,PMS2:NM_001322012:exon11:c.G600A:p.T200T,PMS2:NM_001322014:exon11:c.G1533A:p.T511T,PMS2:NM_001322015:exon11:c.G1224A:p.T408T",NA,NA,NA,NA,NA,NA
chr7,21778471,21778471,G,A,R014_S,DNAH11,Missense_Mutation,NM_001277115,exon47,c.G7798A,p.D2600N,SNP,SNVindel,exonic,DNAH11,NA,nonsynonymous SNV,DNAH11:NM_001277115:exon47:c.G7798A:p.D2600N,D,D,D,T,D,T
chr7,22202100,22202100,C,T,R014_S,RAPGEF5,Missense_Mutation,NM_001367600,exon3,c.G434A,p.R145H,SNP,SNVindel,exonic,RAPGEF5,NA,nonsynonymous SNV,"RAPGEF5:NM_001367600:exon3:c.G434A:p.R145H,RAPGEF5:NM_001367601:exon3:c.G434A:p.R145H,RAPGEF5:NM_001367603:exon3:c.G434A:p.R145H,RAPGEF5:NM_001367602:exon6:c.G98A:p.R33H,RAPGEF5:NM_012294:exon13:c.G1343A:p.R448H",D,D,D,T,D,T
chr7,27872483,27872483,C,T,R014_S,JAZF1,Missense_Mutation,NM_175061,exon5,c.G668A,p.R223Q,SNP,SNVindel,exonic,JAZF1,NA,nonsynonymous SNV,JAZF1:NM_175061:exon5:c.G668A:p.R223Q,D,D,D,T,N,D
chr7,29132262,29132262,G,A,R014_S,CPVL,Silent,NM_001371268,exon6,c.C339T,p.D113D,SNP,SNVindel,exonic,CPVL,NA,synonymous SNV,"CPVL:NM_001371268:exon6:c.C339T:p.D113D,CPVL:NM_019029:exon6:c.C519T:p.D173D,CPVL:NM_031311:exon6:c.C519T:p.D173D,CPVL:NM_001348054:exon7:c.C519T:p.D173D,CPVL:NM_001371261:exon7:c.C519T:p.D173D,CPVL:NM_001371262:exon7:c.C519T:p.D173D,CPVL:NM_001348052:exon8:c.C519T:p.D173D,CPVL:NM_001371258:exon9:c.C519T:p.D173D,CPVL:NM_001371263:exon9:c.C519T:p.D173D,CPVL:NM_001371264:exon9:c.C519T:p.D173D,CPVL:NM_001371256:exon10:c.C519T:p.D173D,CPVL:NM_001371260:exon10:c.C519T:p.D173D,CPVL:NM_001371265:exon10:c.C309T:p.D103D,CPVL:NM_001371266:exon10:c.C309T:p.D103D,CPVL:NM_001371267:exon10:c.C309T:p.D103D,CPVL:NM_001371257:exon11:c.C519T:p.D173D,CPVL:NM_001371255:exon12:c.C519T:p.D173D",NA,NA,NA,NA,NA,NA
chr7,30494850,30494850,G,A,R014_S,NOD1,Silent,NM_001354849,exon5,c.C279T,p.L93L,SNP,SNVindel,exonic,NOD1,NA,synonymous SNV,"NOD1:NM_001354849:exon5:c.C279T:p.L93L,NOD1:NM_006092:exon5:c.C279T:p.L93L",NA,NA,NA,NA,NA,NA
chr7,31146183,31146183,G,A,R014_S,ADCYAP1R1,Missense_Mutation,NM_001199637,exon14,c.G1229A,p.R410Q,SNP,SNVindel,exonic,ADCYAP1R1,NA,nonsynonymous SNV,"ADCYAP1R1:NM_001199637:exon14:c.G1229A:p.R410Q,ADCYAP1R1:NM_001118:exon16:c.G1292A:p.R431Q,ADCYAP1R1:NM_001199635:exon17:c.G1376A:p.R459Q,ADCYAP1R1:NM_001199636:exon17:c.G1373A:p.R458Q",T,D,D,T,N,T
chr7,33397476,33397476,G,A,R014_S,BBS9,Missense_Mutation,NM_001348044,exon12,c.G1091A,p.R364Q,SNP,SNVindel,exonic,BBS9,NA,nonsynonymous SNV,"BBS9:NM_001348044:exon12:c.G1091A:p.R364Q,BBS9:NM_001348046:exon13:c.G1196A:p.R399Q,BBS9:NM_001348040:exon14:c.G1442A:p.R481Q,BBS9:NM_001348045:exon14:c.G1196A:p.R399Q,BBS9:NM_014451:exon14:c.G1442A:p.R481Q,BBS9:NM_001033604:exon15:c.G1457A:p.R486Q,BBS9:NM_001033605:exon15:c.G1547A:p.R516Q,BBS9:NM_001348037:exon15:c.G1196A:p.R399Q,BBS9:NM_001348039:exon15:c.G1184A:p.R395Q,BBS9:NM_001348042:exon15:c.G1427A:p.R476Q,BBS9:NM_001348036:exon16:c.G1562A:p.R521Q,BBS9:NM_001348038:exon16:c.G1289A:p.R430Q,BBS9:NM_001348041:exon16:c.G1562A:p.R521Q,BBS9:NM_001348043:exon16:c.G1562A:p.R521Q,BBS9:NM_001362679:exon16:c.G1562A:p.R521Q,BBS9:NM_198428:exon16:c.G1562A:p.R521Q",D,D,D,T,D,T
chr7,38812172,38812172,G,A,R014_S,VPS41,Nonsense_Mutation,NM_080631,exon12,c.C1003T,p.R335X,SNP,SNVindel,exonic,VPS41,NA,stopgain,"VPS41:NM_080631:exon12:c.C1003T:p.R335X,VPS41:NM_014396:exon13:c.C1078T:p.R360X",.,D,A,.,.,.
chr7,40356364,40356364,G,A,R014_S,SUGCT,Silent,NM_001193312,exon8,c.G603A,p.A201A,SNP,SNVindel,exonic,SUGCT,NA,synonymous SNV,"SUGCT:NM_001193312:exon8:c.G603A:p.A201A,SUGCT:NM_001193311:exon9:c.G747A:p.A249A,SUGCT:NM_001193313:exon9:c.G747A:p.A249A,SUGCT:NM_024728:exon9:c.G636A:p.A212A",NA,NA,NA,NA,NA,NA
chr7,44189586,44189586,G,A,R014_S,GCK,Silent,NM_000162,exon5,c.C561T,p.D187D,SNP,SNVindel,exonic,GCK,NA,synonymous SNV,"GCK:NM_000162:exon5:c.C561T:p.D187D,GCK:NM_001354800:exon5:c.C561T:p.D187D,GCK:NM_033507:exon5:c.C564T:p.D188D,GCK:NM_033508:exon6:c.C558T:p.D186D",NA,NA,NA,NA,NA,NA
chr7,47698311,47698311,A,G,R014_S,C7orf65,Missense_Mutation,NM_001123065,exon2,c.A91G,p.K31E,SNP,SNVindel,exonic,C7orf65,NA,nonsynonymous SNV,C7orf65:NM_001123065:exon2:c.A91G:p.K31E,NA,NA,NA,NA,NA,NA
chr7,48428800,48428800,C,T,R014_S,ABCA13,Silent,NM_152701,exon37,c.C11637T,p.A3879A,SNP,SNVindel,exonic,ABCA13,NA,synonymous SNV,ABCA13:NM_152701:exon37:c.C11637T:p.A3879A,NA,NA,NA,NA,NA,NA
chr7,86574311,86574311,G,A,R014_S,KIAA1324L,Silent,NM_152748,exon3,c.C57T,p.C19C,SNP,SNVindel,exonic,KIAA1324L,NA,synonymous SNV,"KIAA1324L:NM_152748:exon3:c.C57T:p.C19C,KIAA1324L:NM_001142749:exon4:c.C558T:p.C186C,KIAA1324L:NM_001291990:exon4:c.C216T:p.C72C",NA,NA,NA,NA,NA,NA
chr7,98551020,98551020,C,T,R014_S,TRRAP,Silent,NM_003496,exon38,c.C5619T,p.I1873I,SNP,SNVindel,exonic,TRRAP,NA,synonymous SNV,"TRRAP:NM_003496:exon38:c.C5619T:p.I1873I,TRRAP:NM_001244580:exon39:c.C5673T:p.I1891I",NA,NA,NA,NA,NA,NA
chr7,99473693,99473693,G,A,R014_S,OR2AE1,Nonsense_Mutation,NM_001005276,exon1,c.C964T,p.R322X,SNP,SNVindel,exonic,OR2AE1,NA,stopgain,OR2AE1:NM_001005276:exon1:c.C964T:p.R322X,.,.,N,.,.,.
chr7,100030692,100030692,C,T,R014_S,MEPCE,Missense_Mutation,NM_019606,exon2,c.C1822T,p.R608C,SNP,SNVindel,exonic,MEPCE,NA,nonsynonymous SNV,"MEPCE:NM_019606:exon2:c.C1822T:p.R608C,MEPCE:NM_001194990:exon3:c.C415T:p.R139C,MEPCE:NM_001194991:exon3:c.C415T:p.R139C,MEPCE:NM_001194992:exon3:c.C415T:p.R139C,MEPCE:NM_001363486:exon3:c.C415T:p.R139C",D,D,D,T,D,T
chr7,100086075,100086075,C,T,R014_S,NYAP1,Missense_Mutation,NM_173564,exon4,c.C731T,p.P244L,SNP,SNVindel,exonic,NYAP1,NA,nonsynonymous SNV,NYAP1:NM_173564:exon4:c.C731T:p.P244L,D,N,D,T,N,T
chr7,100687017,100687017,C,T,R014_S,MUC17,Missense_Mutation,NM_001040105,exon3,c.C12320T,p.T4107M,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.C12320T:p.T4107M,D,.,N,T,N,T
chr7,100687031,100687031,G,A,R014_S,MUC17,Missense_Mutation,NM_001040105,exon3,c.G12334A,p.A4112T,SNP,SNVindel,exonic,MUC17,NA,nonsynonymous SNV,MUC17:NM_001040105:exon3:c.G12334A:p.A4112T,T,.,N,T,N,T
chr7,101989019,101989019,C,T,R014_S,SPDYE6,Missense_Mutation,NM_001146210,exon6,c.G854A,p.R285H,SNP,SNVindel,exonic,SPDYE6,NA,nonsynonymous SNV,SPDYE6:NM_001146210:exon6:c.G854A:p.R285H,.,.,.,.,.,.
chr7,106508823,106508823,C,T,R014_S,PIK3CG,Missense_Mutation,NM_001282426,exon2,c.C817T,p.R273C,SNP,SNVindel,exonic,PIK3CG,NA,nonsynonymous SNV,"PIK3CG:NM_001282426:exon2:c.C817T:p.R273C,PIK3CG:NM_001282427:exon2:c.C817T:p.R273C,PIK3CG:NM_002649:exon2:c.C817T:p.R273C",D,D,D,T,D,D
chr7,113518730,113518730,C,T,R014_S,PPP1R3A,Missense_Mutation,NM_002711,exon4,c.G2417A,p.R806H,SNP,SNVindel,exonic,PPP1R3A,NA,nonsynonymous SNV,PPP1R3A:NM_002711:exon4:c.G2417A:p.R806H,T,N,N,T,N,T
chr7,116849980,116849980,C,T,R014_S,ST7,Missense_Mutation,NM_001369600,exon12,c.C1196T,p.T399M,SNP,SNVindel,exonic,ST7,NA,nonsynonymous SNV,"ST7:NM_001369600:exon12:c.C1196T:p.T399M,ST7:NM_001369603:exon12:c.C1187T:p.T396M,ST7:NM_001369604:exon12:c.C1325T:p.T442M,ST7:NM_018412:exon12:c.C1325T:p.T442M,ST7:NM_001369598:exon13:c.C1394T:p.T465M,ST7:NM_001369599:exon13:c.C1265T:p.T422M,ST7:NM_001369602:exon13:c.C1256T:p.T419M,ST7:NM_001369607:exon13:c.C1175T:p.T392M,ST7:NM_021908:exon13:c.C1394T:p.T465M,ST7:NM_001369606:exon14:c.C1244T:p.T415M",D,D,D,T,D,T
chr7,131911005,131911005,C,T,R014_S,PLXNA4,Missense_Mutation,NM_020911,exon8,c.G1897A,p.V633I,SNP,SNVindel,exonic,PLXNA4,NA,nonsynonymous SNV,PLXNA4:NM_020911:exon8:c.G1897A:p.V633I,D,D,D,T,N,T
chr7,132192441,132192441,C,T,R014_S,PLXNA4,Missense_Mutation,NM_001105543,exon2,c.G1012A,p.V338I,SNP,SNVindel,exonic,PLXNA4,NA,nonsynonymous SNV,"PLXNA4:NM_001105543:exon2:c.G1012A:p.V338I,PLXNA4:NM_020911:exon2:c.G1012A:p.V338I,PLXNA4:NM_181775:exon3:c.G1012A:p.V338I",T,U,D,T,N,T
chr7,135122949,135122949,C,T,R014_S,CNOT4,Missense_Mutation,NM_001008225,exon2,c.G131A,p.R44Q,SNP,SNVindel,exonic,CNOT4,NA,nonsynonymous SNV,"CNOT4:NM_001008225:exon2:c.G131A:p.R44Q,CNOT4:NM_001190847:exon2:c.G131A:p.R44Q,CNOT4:NM_001190848:exon2:c.G131A:p.R44Q,CNOT4:NM_001190849:exon2:c.G131A:p.R44Q,CNOT4:NM_001190850:exon2:c.G131A:p.R44Q,CNOT4:NM_013316:exon2:c.G131A:p.R44Q",T,D,D,D,D,D
chr7,138845785,138845785,C,T,R014_S,TTC26,Missense_Mutation,NM_001321742,exon8,c.C809T,p.P270L,SNP,SNVindel,exonic,TTC26,NA,nonsynonymous SNV,TTC26:NM_001321742:exon8:c.C809T:p.P270L,D,.,N,.,N,T
chr7,140125765,140125765,G,A,R014_S,RAB19,Missense_Mutation,NM_001008749,exon4,c.G469A,p.V157I,SNP,SNVindel,exonic,RAB19,NA,nonsynonymous SNV,RAB19:NM_001008749:exon4:c.G469A:p.V157I,T,D,D,T,N,T
chr7,150696323,150696323,G,A,R014_S,NOS3,Silent,NM_001160109,exon8,c.G1002A,p.P334P,SNP,SNVindel,exonic,NOS3,NA,synonymous SNV,"NOS3:NM_001160109:exon8:c.G1002A:p.P334P,NOS3:NM_001160110:exon8:c.G1002A:p.P334P,NOS3:NM_001160111:exon8:c.G1002A:p.P334P,NOS3:NM_000603:exon9:c.G1002A:p.P334P",NA,NA,NA,NA,NA,NA
chr7,150767126,150767126,G,A,R014_S,SLC4A2,Missense_Mutation,NM_001199693,exon8,c.G1213A,p.E405K,SNP,SNVindel,exonic,SLC4A2,NA,nonsynonymous SNV,"SLC4A2:NM_001199693:exon8:c.G1213A:p.E405K,SLC4A2:NM_001199694:exon8:c.G1198A:p.E400K,SLC4A2:NM_001199692:exon9:c.G1240A:p.E414K,SLC4A2:NM_003040:exon9:c.G1240A:p.E414K",D,D,D,T,N,T
chr7,157926575,157926575,C,G,R014_S,PTPRN2,Missense_Mutation,NM_001308267,exon8,c.G1236C,p.Q412H,SNP,SNVindel,exonic,PTPRN2,NA,nonsynonymous SNV,"PTPRN2:NM_001308267:exon8:c.G1236C:p.Q412H,PTPRN2:NM_130842:exon8:c.G1299C:p.Q433H,PTPRN2:NM_001308268:exon9:c.G1419C:p.Q473H,PTPRN2:NM_002847:exon9:c.G1350C:p.Q450H,PTPRN2:NM_130843:exon9:c.G1350C:p.Q450H",D,U,N,T,N,T
chr7,157931026,157931026,C,T,R014_S,PTPRN2,Silent,NM_001308267,exon6,c.G978A,p.A326A,SNP,SNVindel,exonic,PTPRN2,NA,synonymous SNV,"PTPRN2:NM_001308267:exon6:c.G978A:p.A326A,PTPRN2:NM_130842:exon6:c.G1041A:p.A347A,PTPRN2:NM_001308268:exon7:c.G1161A:p.A387A,PTPRN2:NM_002847:exon7:c.G1092A:p.A364A,PTPRN2:NM_130843:exon7:c.G1092A:p.A364A",NA,NA,NA,NA,NA,NA
chr8,23292953,23292953,C,T,R014_S,ENTPD4,Missense_Mutation,NM_001128930,exon11,c.G1388A,p.R463H,SNP,SNVindel,exonic,ENTPD4,NA,nonsynonymous SNV,"ENTPD4:NM_001128930:exon11:c.G1388A:p.R463H,ENTPD4:NM_004901:exon11:c.G1412A:p.R471H",T,D,D,T,N,T
chr8,37732636,37732636,G,A,R014_S,RAB11FIP1,Missense_Mutation,NM_001002814,exon3,c.C1019T,p.P340L,SNP,SNVindel,exonic,RAB11FIP1,NA,nonsynonymous SNV,"RAB11FIP1:NM_001002814:exon3:c.C1019T:p.P340L,RAB11FIP1:NM_025151:exon3:c.C1019T:p.P340L",D,N,N,T,D,T
chr8,43028884,43028884,G,A,R014_S,HGSNAT,Silent,NM_001363227,exon9,c.G849A,p.P283P,SNP,SNVindel,exonic,HGSNAT,NA,synonymous SNV,"HGSNAT:NM_001363227:exon9:c.G849A:p.P283P,HGSNAT:NM_152419:exon9:c.G849A:p.P283P",NA,NA,NA,NA,NA,NA
chr8,56436013,56436013,G,T,R014_S,XKR4,Missense_Mutation,NM_052898,exon3,c.G1180T,p.A394S,SNP,SNVindel,exonic,XKR4,NA,nonsynonymous SNV,XKR4:NM_052898:exon3:c.G1180T:p.A394S,D,D,D,T,D,T
chr8,59502095,59502095,C,T,R014_S,NSMAF,Silent,NM_001144772,exon26,c.G2220A,p.T740T,SNP,SNVindel,exonic,NSMAF,NA,synonymous SNV,"NSMAF:NM_001144772:exon26:c.G2220A:p.T740T,NSMAF:NM_003580:exon26:c.G2127A:p.T709T",NA,NA,NA,NA,NA,NA
chr8,87242353,87242353,C,T,R014_S,SLC7A13,Missense_Mutation,NM_138817,exon1,c.G154A,p.V52I,SNP,SNVindel,exonic,SLC7A13,NA,nonsynonymous SNV,SLC7A13:NM_138817:exon1:c.G154A:p.V52I,T,N,N,D,N,T
chr8,94748048,94748048,G,A,R014_S,RBM12B,Silent,NM_203390,exon3,c.C591T,p.A197A,SNP,SNVindel,exonic,RBM12B,NA,synonymous SNV,RBM12B:NM_203390:exon3:c.C591T:p.A197A,NA,NA,NA,NA,NA,NA
chr8,98718924,98718924,C,T,R014_S,MTDH,Silent,NM_001363139,exon6,c.C1053T,p.D351D,SNP,SNVindel,exonic,MTDH,NA,synonymous SNV,"MTDH:NM_001363139:exon6:c.C1053T:p.D351D,MTDH:NM_001363136:exon7:c.C1152T:p.D384D,MTDH:NM_001363138:exon7:c.C1119T:p.D373D,MTDH:NM_178812:exon8:c.C1218T:p.D406D,MTDH:NM_001363137:exon9:c.C1308T:p.D436D",NA,NA,NA,NA,NA,NA
chr8,124238866,124238866,C,A,R014_S,C8orf76,Silent,NM_032847,exon5,c.G822T,p.L274L,SNP,SNVindel,exonic,C8orf76;ZHX1-C8orf76,NA,synonymous SNV,"C8orf76:NM_032847:exon5:c.G822T:p.L274L,ZHX1-C8orf76:NM_001204180:exon6:c.G726T:p.L242L",NA,NA,NA,NA,NA,NA
chr8,124238870,124238870,A,C,R014_S,C8orf76,Missense_Mutation,NM_032847,exon5,c.T818G,p.L273R,SNP,SNVindel,exonic,C8orf76;ZHX1-C8orf76,NA,nonsynonymous SNV,"C8orf76:NM_032847:exon5:c.T818G:p.L273R,ZHX1-C8orf76:NM_001204180:exon6:c.T722G:p.L241R",D,D,D,.,D,T
chr8,133885382,133885382,C,T,R014_S,TG,Missense_Mutation,NM_003235,exon5,c.C554T,p.A185V,SNP,SNVindel,exonic,TG,NA,nonsynonymous SNV,TG:NM_003235:exon5:c.C554T:p.A185V,D,N,N,D,N,T
chr9,8500831,8500831,C,T,R014_S,PTPRD,Missense_Mutation,NM_002839,exon24,c.G2051A,p.R684Q,SNP,SNVindel,exonic,PTPRD,NA,nonsynonymous SNV,PTPRD:NM_002839:exon24:c.G2051A:p.R684Q,T,N,D,T,N,T
chr9,32418469,32418469,G,A,R014_S,ACO1,Silent,NM_002197,exon6,c.G618A,p.S206S,SNP,SNVindel,exonic,ACO1,NA,synonymous SNV,"ACO1:NM_002197:exon6:c.G618A:p.S206S,ACO1:NM_001278352:exon7:c.G618A:p.S206S,ACO1:NM_001362840:exon7:c.G618A:p.S206S",NA,NA,NA,NA,NA,NA
chr9,35661071,35661071,C,T,R014_S,CCDC107,Missense_Mutation,NM_174923,exon5,c.C739T,p.R247W,SNP,SNVindel,exonic,CCDC107,NA,nonsynonymous SNV,"CCDC107:NM_174923:exon5:c.C739T:p.R247W,CCDC107:NM_001195200:exon6:c.C658T:p.R220W",T,N,N,T,N,T
chr9,37733588,37733588,C,T,R014_S,FRMPD1,Nonsense_Mutation,NM_001371223,exon11,c.C1114T,p.R372X,SNP,SNVindel,exonic,FRMPD1,NA,stopgain,"FRMPD1:NM_001371223:exon11:c.C1114T:p.R372X,FRMPD1:NM_001371225:exon11:c.C1114T:p.R372X,FRMPD1:NM_014907:exon11:c.C1114T:p.R372X,FRMPD1:NM_001371224:exon12:c.C1114T:p.R372X",.,D,A,.,.,.
chr9,86587008,86587008,C,T,R014_S,HNRNPK,Missense_Mutation,NM_001318186,exon10,c.G670A,p.G224R,SNP,SNVindel,exonic,HNRNPK,NA,nonsynonymous SNV,"HNRNPK:NM_001318186:exon10:c.G670A:p.G224R,HNRNPK:NM_001318187:exon10:c.G670A:p.G224R,HNRNPK:NM_001318188:exon11:c.G742A:p.G248R,HNRNPK:NM_002140:exon11:c.G742A:p.G248R,HNRNPK:NM_031262:exon11:c.G742A:p.G248R,HNRNPK:NM_031263:exon11:c.G742A:p.G248R",T,N,D,T,D,T
chr9,90312047,90312047,G,A,R014_S,DAPK1,Missense_Mutation,NM_001288729,exon22,c.G2539A,p.E847K,SNP,SNVindel,exonic,DAPK1,NA,nonsynonymous SNV,"DAPK1:NM_001288729:exon22:c.G2539A:p.E847K,DAPK1:NM_001288730:exon22:c.G2539A:p.E847K,DAPK1:NM_001288731:exon22:c.G2539A:p.E847K,DAPK1:NM_004938:exon22:c.G2539A:p.E847K",D,D,D,T,N,T
chr9,95875297,95875297,C,T,R014_S,CARD19,Missense_Mutation,NM_001318010,exon4,c.C257T,p.P86L,SNP,SNVindel,exonic,CARD19,NA,nonsynonymous SNV,"CARD19:NM_001318010:exon4:c.C257T:p.P86L,CARD19:NM_001318011:exon5:c.C400T:p.R134W,CARD19:NM_032310:exon6:c.C460T:p.R154W",D,N,D,.,D,T
chr9,96320127,96320127,G,A,R014_S,FAM120A,Missense_Mutation,NM_001286722,exon14,c.G2500A,p.V834I,SNP,SNVindel,exonic,FAM120A,NA,nonsynonymous SNV,"FAM120A:NM_001286722:exon14:c.G2500A:p.V834I,FAM120A:NM_014612:exon14:c.G2503A:p.V835I",D,D,D,T,N,T
chr9,101536250,101536250,G,A,R014_S,ANKS6,Missense_Mutation,NM_173551,exon9,c.C1730T,p.T577M,SNP,SNVindel,exonic,ANKS6,NA,nonsynonymous SNV,ANKS6:NM_173551:exon9:c.C1730T:p.T577M,T,N,N,T,N,T
chr9,104324532,104324532,G,A,R014_S,RNF20,Missense_Mutation,NM_019592,exon20,c.G2756A,p.R919H,SNP,SNVindel,exonic,RNF20,NA,nonsynonymous SNV,RNF20:NM_019592:exon20:c.G2756A:p.R919H,T,D,D,T,N,T
chr9,117838321,117838321,G,A,R014_S,TNC,Silent,NM_002160,exon9,c.C2940T,p.N980N,SNP,SNVindel,exonic,TNC,NA,synonymous SNV,TNC:NM_002160:exon9:c.C2940T:p.N980N,NA,NA,NA,NA,NA,NA
chr9,120475702,120475702,C,T,R014_S,TLR4,Silent,NM_138557,exon2,c.C696T,p.S232S,SNP,SNVindel,exonic,TLR4,NA,synonymous SNV,"TLR4:NM_138557:exon2:c.C696T:p.S232S,TLR4:NM_138554:exon3:c.C1296T:p.S432S,TLR4:NM_003266:exon4:c.C1176T:p.S392S",NA,NA,NA,NA,NA,NA
chr9,132630492,132630492,G,A,R014_S,USP20,Missense_Mutation,NM_001008563,exon11,c.G899A,p.R300H,SNP,SNVindel,exonic,USP20,NA,nonsynonymous SNV,"USP20:NM_001008563:exon11:c.G899A:p.R300H,USP20:NM_001110303:exon11:c.G899A:p.R300H,USP20:NM_006676:exon11:c.G899A:p.R300H",T,N,N,T,N,T
chr9,135863790,135863790,G,A,R014_S,GFI1B,Missense_Mutation,NM_001135031,exon4,c.G445A,p.A149T,SNP,SNVindel,exonic,GFI1B,NA,nonsynonymous SNV,"GFI1B:NM_001135031:exon4:c.G445A:p.A149T,GFI1B:NM_004188:exon8:c.G445A:p.A149T",T,D,N,T,N,T
chr9,136217105,136217105,C,T,R014_S,RPL7A,Silent,NM_000972,exon5,c.C426T,p.T142T,SNP,SNVindel,exonic,RPL7A,NA,synonymous SNV,RPL7A:NM_000972:exon5:c.C426T:p.T142T,NA,NA,NA,NA,NA,NA
chr9,140417287,140417287,G,A,R014_S,PNPLA7,Missense_Mutation,NM_152286,exon8,c.C695T,p.T232M,SNP,SNVindel,exonic,PNPLA7,NA,nonsynonymous SNV,"PNPLA7:NM_152286:exon8:c.C695T:p.T232M,PNPLA7:NM_001098537:exon9:c.C770T:p.T257M",D,D,D,D,D,D
chr10,13542000,13542000,G,A,R014_S,BEND7,Nonsense_Mutation,NM_001100912,exon2,c.C70T,p.R24X,SNP,SNVindel,exonic,BEND7,NA,stopgain,"BEND7:NM_001100912:exon2:c.C70T:p.R24X,BEND7:NM_001370075:exon2:c.C70T:p.R24X,BEND7:NM_001369863:exon3:c.C226T:p.R76X,BEND7:NM_152751:exon3:c.C70T:p.R24X",.,D,A,.,.,.
chr10,16919088,16919088,C,T,R014_S,CUBN,Missense_Mutation,NM_001081,exon57,c.G8914A,p.A2972T,SNP,SNVindel,exonic,CUBN,NA,nonsynonymous SNV,CUBN:NM_001081:exon57:c.G8914A:p.A2972T,T,N,N,T,N,T
chr10,18282137,18282137,G,A,R014_S,SLC39A12,Missense_Mutation,NM_001282734,exon8,c.G1048A,p.V350M,SNP,SNVindel,exonic,SLC39A12,NA,nonsynonymous SNV,"SLC39A12:NM_001282734:exon8:c.G1048A:p.V350M,SLC39A12:NM_001145195:exon9:c.G1450A:p.V484M,SLC39A12:NM_001282733:exon9:c.G1447A:p.V483M",T,N,N,T,N,T
chr10,72298656,72298656,C,T,R014_S,PALD1,Silent,NM_014431,exon13,c.C1461T,p.D487D,SNP,SNVindel,exonic,PALD1,NA,synonymous SNV,PALD1:NM_014431:exon13:c.C1461T:p.D487D,NA,NA,NA,NA,NA,NA
chr10,95137083,95137083,G,A,R014_S,MYOF,Missense_Mutation,NM_133337,exon21,c.C2066T,p.T689M,SNP,SNVindel,exonic,MYOF,NA,nonsynonymous SNV,"MYOF:NM_133337:exon21:c.C2066T:p.T689M,MYOF:NM_013451:exon22:c.C2105T:p.T702M",D,N,N,T,N,T
chr10,98803234,98803234,G,A,R014_S,SLIT1,Silent,NM_003061,exon19,c.C1890T,p.N630N,SNP,SNVindel,exonic,SLIT1,NA,synonymous SNV,SLIT1:NM_003061:exon19:c.C1890T:p.N630N,NA,NA,NA,NA,NA,NA
chr10,102056784,102056784,G,A,R014_S,PKD2L1,Missense_Mutation,NM_001253837,exon6,c.C997T,p.R333C,SNP,SNVindel,exonic,PKD2L1,NA,nonsynonymous SNV,"PKD2L1:NM_001253837:exon6:c.C997T:p.R333C,PKD2L1:NM_016112:exon6:c.C1138T:p.R380C",T,N,N,D,N,D
chr10,115338409,115338409,G,A,R014_S,HABP2,Missense_Mutation,NM_001177660,exon7,c.G514A,p.D172N,SNP,SNVindel,exonic,HABP2,NA,nonsynonymous SNV,"HABP2:NM_001177660:exon7:c.G514A:p.D172N,HABP2:NM_004132:exon7:c.G592A:p.D198N",T,D,D,D,N,T
chr10,118220484,118220484,A,G,R014_S,PNLIPRP3,Missense_Mutation,NM_001011709,exon6,c.A572G,p.D191G,SNP,SNVindel,exonic,PNLIPRP3,NA,nonsynonymous SNV,PNLIPRP3:NM_001011709:exon6:c.A572G:p.D191G,D,D,D,D,D,D
chr10,124457810,124457810,C,T,R014_S,C10orf120,Silent,NM_001010912,exon3,c.G447A,p.A149A,SNP,SNVindel,exonic,C10orf120,NA,synonymous SNV,C10orf120:NM_001010912:exon3:c.G447A:p.A149A,NA,NA,NA,NA,NA,NA
chr10,128926011,128926011,C,T,R014_S,DOCK1,Nonsense_Mutation,NM_001290223,exon27,c.C2830T,p.R944X,SNP,SNVindel,exonic,DOCK1,NA,stopgain,"DOCK1:NM_001290223:exon27:c.C2830T:p.R944X,DOCK1:NM_001380:exon27:c.C2767T:p.R923X",.,D,A,.,.,.
chr11,1263495,1263495,C,T,R014_S,MUC5B,Silent,NM_002458,exon31,c.C5385T,p.D1795D,SNP,SNVindel,exonic,MUC5B,NA,synonymous SNV,MUC5B:NM_002458:exon31:c.C5385T:p.D1795D,NA,NA,NA,NA,NA,NA
chr11,3988834,3988834,C,T,R014_S,STIM1,Silent,NM_001277961,exon2,c.C192T,p.S64S,SNP,SNVindel,exonic,STIM1,NA,synonymous SNV,"STIM1:NM_001277961:exon2:c.C192T:p.S64S,STIM1:NM_001277962:exon2:c.C192T:p.S64S,STIM1:NM_003156:exon2:c.C192T:p.S64S",NA,NA,NA,NA,NA,NA
chr11,32954363,32954363,C,T,R014_S,QSER1,Missense_Mutation,NM_001076786,exon4,c.C1559T,p.T520M,SNP,SNVindel,exonic,QSER1,NA,nonsynonymous SNV,QSER1:NM_001076786:exon4:c.C1559T:p.T520M,D,U,D,T,N,T
chr11,59992462,59992462,C,T,R014_S,MS4A4E,Silent,NM_001351235,exon4,c.G210A,p.A70A,SNP,SNVindel,exonic,MS4A4E,NA,synonymous SNV,MS4A4E:NM_001351235:exon4:c.G210A:p.A70A,NA,NA,NA,NA,NA,NA
chr11,61300530,61300530,G,A,R014_S,SYT7,Silent,NM_001370210,exon2,c.C570T,p.S190S,SNP,SNVindel,exonic,SYT7,NA,synonymous SNV,"SYT7:NM_001370210:exon2:c.C570T:p.S190S,SYT7:NM_001370211:exon4:c.C282T:p.S94S,SYT7:NM_004200:exon4:c.C282T:p.S94S,SYT7:NM_001252065:exon5:c.C507T:p.S169S,SYT7:NM_001300773:exon5:c.C414T:p.S138S,SYT7:NM_001365809:exon8:c.C1131T:p.S377S",NA,NA,NA,NA,NA,NA
chr11,62933552,62933552,C,T,R014_S,SLC22A25,Missense_Mutation,NM_199352,exon7,c.G1249A,p.A417T,SNP,SNVindel,exonic,SLC22A25,NA,nonsynonymous SNV,SLC22A25:NM_199352:exon7:c.G1249A:p.A417T,D,D,D,T,N,T
chr11,63965415,63965415,G,A,R014_S,STIP1,Missense_Mutation,NM_001282652,exon8,c.G1133A,p.R378Q,SNP,SNVindel,exonic,STIP1,NA,nonsynonymous SNV,"STIP1:NM_001282652:exon8:c.G1133A:p.R378Q,STIP1:NM_001282653:exon8:c.G920A:p.R307Q,STIP1:NM_006819:exon8:c.G992A:p.R331Q",D,D,D,T,D,T
chr11,66436539,66436539,G,A,R014_S,RBM4B,Silent,NM_031492,exon3,c.C636T,p.N212N,SNP,SNVindel,exonic,RBM4B,NA,synonymous SNV,RBM4B:NM_031492:exon3:c.C636T:p.N212N,NA,NA,NA,NA,NA,NA
chr11,67262619,67262619,C,T,R014_S,PITPNM1,Missense_Mutation,NM_001130848,exon17,c.G2557A,p.V853I,SNP,SNVindel,exonic,PITPNM1,NA,nonsynonymous SNV,"PITPNM1:NM_001130848:exon17:c.G2557A:p.V853I,PITPNM1:NM_004910:exon17:c.G2560A:p.V854I",T,N,D,T,N,T
chr11,68174017,68174017,C,T,R014_S,LRP5,Silent,NM_001291902,exon9,c.C84T,p.N28N,SNP,SNVindel,exonic,LRP5,NA,synonymous SNV,"LRP5:NM_001291902:exon9:c.C84T:p.N28N,LRP5:NM_002335:exon9:c.C1827T:p.N609N",NA,NA,NA,NA,NA,NA
chr11,71946973,71946973,C,T,R014_S,INPPL1,Missense_Mutation,NM_001567,exon25,c.C2822T,p.T941M,SNP,SNVindel,exonic,INPPL1,NA,nonsynonymous SNV,INPPL1:NM_001567:exon25:c.C2822T:p.T941M,T,N,D,D,N,D
chr11,104819265,104819265,G,A,R014_S,CASP4,Missense_Mutation,NM_001225,exon6,c.C920T,p.T307M,SNP,SNVindel,exonic,CASP4,NA,nonsynonymous SNV,"CASP4:NM_001225:exon6:c.C920T:p.T307M,CASP4:NM_033306:exon7:c.C752T:p.T251M",D,D,D,T,D,T
chr11,116692294,116692294,G,A,R014_S,APOA4,Silent,NM_000482,exon3,c.C480T,p.Y160Y,SNP,SNVindel,exonic,APOA4,NA,synonymous SNV,APOA4:NM_000482:exon3:c.C480T:p.Y160Y,NA,NA,NA,NA,NA,NA
chr11,119549183,119549183,G,A,R014_S,NECTIN1,Silent,NM_002855,exon2,c.C372T,p.C124C,SNP,SNVindel,exonic,NECTIN1,NA,synonymous SNV,"NECTIN1:NM_002855:exon2:c.C372T:p.C124C,NECTIN1:NM_203285:exon2:c.C372T:p.C124C,NECTIN1:NM_203286:exon2:c.C372T:p.C124C",NA,NA,NA,NA,NA,NA
chr11,120117192,120117192,G,A,R014_S,POU2F3,Silent,NM_001244682,exon2,c.G69A,p.T23T,SNP,SNVindel,exonic,POU2F3,NA,synonymous SNV,"POU2F3:NM_001244682:exon2:c.G69A:p.T23T,POU2F3:NM_014352:exon2:c.G63A:p.T21T",NA,NA,NA,NA,NA,NA
chr11,130278698,130278698,G,A,R014_S,ADAMTS8,Missense_Mutation,NM_007037,exon7,c.C1888T,p.R630W,SNP,SNVindel,exonic,ADAMTS8,NA,nonsynonymous SNV,ADAMTS8:NM_007037:exon7:c.C1888T:p.R630W,D,D,D,T,D,T
chr12,319066,319066,G,A,R014_S,SLC6A12,Silent,NM_001206931,exon2,c.C87T,p.D29D,SNP,SNVindel,exonic,SLC6A12,NA,synonymous SNV,"SLC6A12:NM_001206931:exon2:c.C87T:p.D29D,SLC6A12:NM_001122847:exon3:c.C87T:p.D29D,SLC6A12:NM_001122848:exon3:c.C87T:p.D29D,SLC6A12:NM_003044:exon4:c.C87T:p.D29D",NA,NA,NA,NA,NA,NA
chr12,7188498,7188498,G,A,R014_S,C1R,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,C1R,NA,unknown,UNKNOWN,D,N,D,D,D,D
chr12,13716208,13716208,C,T,R014_S,GRIN2B,Missense_Mutation,NM_000834,exon13,c.G3964A,p.V1322I,SNP,SNVindel,exonic,GRIN2B,NA,nonsynonymous SNV,GRIN2B:NM_000834:exon13:c.G3964A:p.V1322I,.,D,D,.,.,T
chr12,13716673,13716673,C,T,R014_S,GRIN2B,Missense_Mutation,NM_000834,exon13,c.G3499A,p.V1167I,SNP,SNVindel,exonic,GRIN2B,NA,nonsynonymous SNV,GRIN2B:NM_000834:exon13:c.G3499A:p.V1167I,.,N,N,.,.,T
chr12,53509273,53509273,G,A,R014_S,SOAT2,Silent,NM_003578,exon6,c.G543A,p.P181P,SNP,SNVindel,exonic,SOAT2,NA,synonymous SNV,SOAT2:NM_003578:exon6:c.G543A:p.P181P,NA,NA,NA,NA,NA,NA
chr12,54422431,54422431,G,A,R014_S,HOXC6,Silent,NM_004503,exon1,c.G126A,p.A42A,SNP,SNVindel,exonic,HOXC6,NA,synonymous SNV,HOXC6:NM_004503:exon1:c.G126A:p.A42A,NA,NA,NA,NA,NA,NA
chr12,54422440,54422440,C,T,R014_S,HOXC6,Silent,NM_004503,exon1,c.C135T,p.A45A,SNP,SNVindel,exonic,HOXC6,NA,synonymous SNV,HOXC6:NM_004503:exon1:c.C135T:p.A45A,NA,NA,NA,NA,NA,NA
chr12,69965940,69965940,G,A,R014_S,FRS2,Missense_Mutation,NM_001278357,exon6,c.G455A,p.R152Q,SNP,SNVindel,exonic,FRS2,NA,nonsynonymous SNV,"FRS2:NM_001278357:exon6:c.G455A:p.R152Q,FRS2:NM_001278356:exon8:c.G455A:p.R152Q,FRS2:NM_001042555:exon9:c.G455A:p.R152Q,FRS2:NM_001278354:exon9:c.G455A:p.R152Q,FRS2:NM_001278355:exon9:c.G455A:p.R152Q,FRS2:NM_006654:exon9:c.G455A:p.R152Q,FRS2:NM_001278351:exon10:c.G455A:p.R152Q,FRS2:NM_001278353:exon10:c.G455A:p.R152Q",T,D,D,T,N,T
chr12,96350699,96350699,C,T,R014_S,AMDHD1,Silent,NM_152435,exon4,c.C546T,p.I182I,SNP,SNVindel,exonic,AMDHD1,NA,synonymous SNV,AMDHD1:NM_152435:exon4:c.C546T:p.I182I,NA,NA,NA,NA,NA,NA
chr12,96640978,96640978,C,T,R014_S,ELK3,Silent,NM_005230,exon3,c.C468T,p.D156D,SNP,SNVindel,exonic,ELK3,NA,synonymous SNV,ELK3:NM_005230:exon3:c.C468T:p.D156D,NA,NA,NA,NA,NA,NA
chr12,100926354,100926354,A,C,R014_S,NR1H4,Missense_Mutation,NM_001206992,exon3,c.A594C,p.K198N,SNP,SNVindel,exonic,NR1H4,NA,nonsynonymous SNV,"NR1H4:NM_001206992:exon3:c.A594C:p.K198N,NR1H4:NM_001206993:exon3:c.A594C:p.K198N,NR1H4:NM_001206979:exon5:c.A564C:p.K188N,NR1H4:NM_005123:exon5:c.A564C:p.K188N,NR1H4:NM_001206977:exon6:c.A564C:p.K188N",D,D,D,D,D,D
chr12,104720179,104720179,G,A,R014_S,TXNRD1,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TXNRD1,NA,unknown,UNKNOWN,T,N,D,T,N,T
chr12,112924344,112924344,C,T,R014_S,PTPN11,Silent,NM_001330437,exon11,c.C1302T,p.S434S,SNP,SNVindel,exonic,PTPN11,NA,synonymous SNV,"PTPN11:NM_001330437:exon11:c.C1302T:p.S434S,PTPN11:NM_002834:exon11:c.C1290T:p.S430S,PTPN11:NM_080601:exon11:c.C1290T:p.S430S",NA,NA,NA,NA,NA,NA
chr12,123187428,123187428,C,T,R014_S,HCAR2,Missense_Mutation,NM_177551,exon1,c.G403A,p.A135T,SNP,SNVindel,exonic,HCAR2,NA,nonsynonymous SNV,HCAR2:NM_177551:exon1:c.G403A:p.A135T,T,N,N,T,N,T
chr12,124192206,124192206,A,G,R014_S,TCTN2,Silent,NM_001143850,exon18,c.A2037G,p.T679T,SNP,SNVindel,exonic,TCTN2,NA,synonymous SNV,"TCTN2:NM_001143850:exon18:c.A2037G:p.T679T,TCTN2:NM_024809:exon18:c.A2040G:p.T680T",NA,NA,NA,NA,NA,NA
chr12,124289426,124289426,C,T,R014_S,DNAH10,Silent,NM_207437,exon17,c.C2472T,p.D824D,SNP,SNVindel,exonic,DNAH10,NA,synonymous SNV,DNAH10:NM_207437:exon17:c.C2472T:p.D824D,NA,NA,NA,NA,NA,NA
chr13,24444333,24444333,C,T,R014_S,MIPEP,Missense_Mutation,NM_005932,exon6,c.G605A,p.R202H,SNP,SNVindel,exonic,MIPEP,NA,nonsynonymous SNV,MIPEP:NM_005932:exon6:c.G605A:p.R202H,T,D,D,T,D,T
chr13,39564810,39564810,C,T,R014_S,STOML3,Missense_Mutation,NM_145286,exon1,c.G49A,p.V17M,SNP,SNVindel,exonic,STOML3,NA,nonsynonymous SNV,STOML3:NM_145286:exon1:c.G49A:p.V17M,T,N,D,D,N,D
chr13,96599374,96599374,C,A,R014_S,UGGT2,Missense_Mutation,NM_020121,exon15,c.G1594T,p.D532Y,SNP,SNVindel,exonic,UGGT2,NA,nonsynonymous SNV,UGGT2:NM_020121:exon15:c.G1594T:p.D532Y,D,D,D,T,D,T
chr13,111145564,111145564,C,T,R014_S,COL4A2,Missense_Mutation,NM_001846,exon39,c.C3569T,p.P1190L,SNP,SNVindel,exonic,COL4A2,NA,nonsynonymous SNV,COL4A2:NM_001846:exon39:c.C3569T:p.P1190L,D,N,D,D,D,D
chr13,111372159,111372159,C,T,R014_S,ING1,Silent,NM_001267728,exon2,c.C669T,p.C223C,SNP,SNVindel,exonic,ING1,NA,synonymous SNV,"ING1:NM_001267728:exon2:c.C669T:p.C223C,ING1:NM_005537:exon2:c.C1149T:p.C383C,ING1:NM_198217:exon2:c.C588T:p.C196C,ING1:NM_198218:exon2:c.C513T:p.C171C,ING1:NM_198219:exon2:c.C720T:p.C240C",NA,NA,NA,NA,NA,NA
chr13,114164655,114164655,G,A,R014_S,TMCO3,Missense_Mutation,NM_001349742,exon6,c.G949A,p.V317I,SNP,SNVindel,exonic,TMCO3,NA,nonsynonymous SNV,"TMCO3:NM_001349742:exon6:c.G949A:p.V317I,TMCO3:NM_001349745:exon6:c.G949A:p.V317I,TMCO3:NM_001349741:exon7:c.G1141A:p.V381I,TMCO3:NM_001349744:exon7:c.G1141A:p.V381I,TMCO3:NM_017905:exon7:c.G1141A:p.V381I",T,D,D,T,N,T
chr13,114817583,114817583,C,T,R014_S,RASA3,Missense_Mutation,NM_001320822,exon3,c.G125A,p.R42H,SNP,SNVindel,exonic,RASA3,NA,nonsynonymous SNV,"RASA3:NM_001320822:exon3:c.G125A:p.R42H,RASA3:NM_007368:exon3:c.G221A:p.R74H",D,D,D,T,N,T
chr14,23828731,23828731,G,T,R014_S,EFS,Missense_Mutation,NM_032459,exon3,c.C677A,p.S226Y,SNP,SNVindel,exonic,EFS,NA,nonsynonymous SNV,"EFS:NM_032459:exon3:c.C677A:p.S226Y,EFS:NM_001277174:exon4:c.C449A:p.S150Y,EFS:NM_005864:exon4:c.C956A:p.S319Y",D,N,D,T,N,T
chr14,24842913,24842913,G,A,R014_S,NFATC4,Silent,NM_001198965,exon5,c.G1572A,p.A524A,SNP,SNVindel,exonic,NFATC4,NA,synonymous SNV,"NFATC4:NM_001198965:exon5:c.G1572A:p.A524A,NFATC4:NM_001198966:exon5:c.G1362A:p.A454A,NFATC4:NM_001288802:exon5:c.G1536A:p.A512A,NFATC4:NM_001363681:exon5:c.G1536A:p.A512A,NFATC4:NM_001363682:exon5:c.G1536A:p.A512A,NFATC4:NM_004554:exon5:c.G1572A:p.A524A,NFATC4:NM_001136022:exon6:c.G1761A:p.A587A,NFATC4:NM_001198967:exon6:c.G1761A:p.A587A,NFATC4:NM_001320043:exon6:c.G1761A:p.A587A",NA,NA,NA,NA,NA,NA
chr14,61952287,61952287,G,A,R014_S,PRKCH,Missense_Mutation,NM_006255,exon10,c.G1346A,p.R449H,SNP,SNVindel,exonic,PRKCH,NA,nonsynonymous SNV,PRKCH:NM_006255:exon10:c.G1346A:p.R449H,T,D,D,T,D,T
chr14,64988841,64988841,C,T,R014_S,ZBTB1,Missense_Mutation,NM_001123329,exon2,c.C619T,p.R207C,SNP,SNVindel,exonic,ZBTB1,NA,nonsynonymous SNV,"ZBTB1:NM_001123329:exon2:c.C619T:p.R207C,ZBTB1:NM_014950:exon2:c.C619T:p.R207C",D,N,D,T,N,T
chr14,68053890,68053890,C,A,R014_S,PLEKHH1,Missense_Mutation,NM_020715,exon29,c.C4033A,p.L1345M,SNP,SNVindel,exonic,PLEKHH1,NA,nonsynonymous SNV,PLEKHH1:NM_020715:exon29:c.C4033A:p.L1345M,T,N,N,T,N,T
chr14,93303771,93303771,C,T,R014_S,GOLGA5,Nonsense_Mutation,NM_005113,exon12,c.C2092T,p.R698X,SNP,SNVindel,exonic,GOLGA5,NA,stopgain,GOLGA5:NM_005113:exon12:c.C2092T:p.R698X,.,D,D,.,.,.
chr14,96769478,96769478,G,A,R014_S,ATG2B,Missense_Mutation,NM_018036,exon33,c.C4957T,p.R1653C,SNP,SNVindel,exonic,ATG2B,NA,nonsynonymous SNV,ATG2B:NM_018036:exon33:c.C4957T:p.R1653C,D,D,D,T,D,T
chr14,96944944,96944944,C,T,R014_S,AK7,Silent,NM_001350892,exon13,c.C1500T,p.D500D,SNP,SNVindel,exonic,AK7,NA,synonymous SNV,"AK7:NM_001350892:exon13:c.C1500T:p.D500D,AK7:NM_001350888:exon14:c.C1629T:p.D543D,AK7:NM_001350890:exon14:c.C1629T:p.D543D,AK7:NM_001350891:exon14:c.C1620T:p.D540D,AK7:NM_152327:exon15:c.C1698T:p.D566D",NA,NA,NA,NA,NA,NA
chr14,105413936,105413936,C,T,R014_S,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.G7552A,p.V2518I,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.G7552A:p.V2518I,AHNAK2:NM_138420:exon7:c.G7852A:p.V2618I",T,.,N,T,N,T
chr14,105419434,105419434,G,A,R014_S,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.C2054T,p.A685V,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.C2054T:p.A685V,AHNAK2:NM_138420:exon7:c.C2354T:p.A785V",T,.,N,T,N,T
chr14,105518013,105518013,C,T,R014_S,GPR132,Missense_Mutation,NM_001278695,exon3,c.G434A,p.R145H,SNP,SNVindel,exonic,GPR132,NA,nonsynonymous SNV,"GPR132:NM_001278695:exon3:c.G434A:p.R145H,GPR132:NM_013345:exon4:c.G461A:p.R154H,GPR132:NM_001278694:exon5:c.G461A:p.R154H",D,D,D,T,D,D
chr15,29090698,29090698,C,T,R014_S,GOLGA6L7,Missense_Mutation,NM_001365371,exon6,c.G439A,p.A147T,SNP,SNVindel,exonic,GOLGA6L7,NA,nonsynonymous SNV,GOLGA6L7:NM_001365371:exon6:c.G439A:p.A147T,NA,NA,NA,NA,NA,NA
chr15,31295272,31295272,C,A,R014_S,TRPM1,Missense_Mutation,NM_001252020,exon27,c.G3682T,p.V1228F,SNP,SNVindel,exonic,TRPM1,NA,nonsynonymous SNV,"TRPM1:NM_001252020:exon27:c.G3682T:p.V1228F,TRPM1:NM_002420:exon27:c.G3565T:p.V1189F,TRPM1:NM_001252024:exon28:c.G3631T:p.V1211F",D,D,D,T,D,T
chr15,45725146,45725146,C,T,R014_S,C15orf48,Missense_Mutation,NM_032413,exon4,c.C184T,p.L62F,SNP,SNVindel,exonic,C15orf48,NA,nonsynonymous SNV,"C15orf48:NM_032413:exon4:c.C184T:p.L62F,C15orf48:NM_197955:exon5:c.C184T:p.L62F",T,D,D,T,N,T
chr15,59499292,59499292,G,A,R014_S,LDHAL6B,Silent,NM_033195,exon1,c.G153A,p.A51A,SNP,SNVindel,exonic,LDHAL6B,NA,synonymous SNV,LDHAL6B:NM_033195:exon1:c.G153A:p.A51A,NA,NA,NA,NA,NA,NA
chr15,63986261,63986261,A,G,R014_S,HERC1,Missense_Mutation,NM_003922,exon30,c.T5576C,p.L1859P,SNP,SNVindel,exonic,HERC1,NA,nonsynonymous SNV,HERC1:NM_003922:exon30:c.T5576C:p.L1859P,D,U,N,T,N,T
chr15,74326847,74326847,G,A,R014_S,PML,Silent,NM_033249,exon6,c.G1542A,p.S514S,SNP,SNVindel,exonic,PML,NA,synonymous SNV,"PML:NM_033249:exon6:c.G1542A:p.S514S,PML:NM_033250:exon6:c.G1542A:p.S514S,PML:NM_002675:exon7:c.G1686A:p.S562S,PML:NM_033238:exon7:c.G1686A:p.S562S,PML:NM_033239:exon7:c.G1686A:p.S562S,PML:NM_033240:exon7:c.G1686A:p.S562S",NA,NA,NA,NA,NA,NA
chr15,79187165,79187165,G,A,R014_S,MORF4L1,Missense_Mutation,NM_001265603,exon9,c.G542A,p.R181Q,SNP,SNVindel,exonic,MORF4L1,NA,nonsynonymous SNV,"MORF4L1:NM_001265603:exon9:c.G542A:p.R181Q,MORF4L1:NM_001265604:exon11:c.G542A:p.R181Q,MORF4L1:NM_001265605:exon11:c.G542A:p.R181Q,MORF4L1:NM_006791:exon11:c.G806A:p.R269Q,MORF4L1:NM_206839:exon12:c.G923A:p.R308Q",D,D,D,T,N,T
chr15,99672941,99672941,C,T,R014_S,SYNM,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SYNM,NA,unknown,UNKNOWN,.,.,D,.,.,T
chr15,101109809,101109809,G,A,R014_S,LINS1,Silent,NM_001040616,exon7,c.C1908T,p.D636D,SNP,SNVindel,exonic,LINS1,NA,synonymous SNV,"LINS1:NM_001040616:exon7:c.C1908T:p.D636D,LINS1:NM_001352508:exon7:c.C1755T:p.D585D,LINS1:NM_001352507:exon8:c.C1161T:p.D387D",NA,NA,NA,NA,NA,NA
chr15,101595326,101595326,C,T,R014_S,LRRK1,Silent,NM_024652,exon27,c.C4230T,p.Y1410Y,SNP,SNVindel,exonic,LRRK1,NA,synonymous SNV,LRRK1:NM_024652:exon27:c.C4230T:p.Y1410Y,NA,NA,NA,NA,NA,NA
chr16,1537773,1537773,G,A,R014_S,PTX4,Nonsense_Mutation,NM_001013658,exon2,c.C325T,p.R109X,SNP,SNVindel,exonic,PTX4,NA,stopgain,"PTX4:NM_001013658:exon2:c.C325T:p.R109X,PTX4:NM_001328608:exon2:c.C340T:p.R114X",.,N,A,.,.,.
chr16,1748922,1748922,C,T,R014_S,JPT2,Missense_Mutation,NM_144570,exon5,c.C496T,p.R166W,SNP,SNVindel,exonic,JPT2,NA,nonsynonymous SNV,JPT2:NM_144570:exon5:c.C496T:p.R166W,D,D,D,T,D,T
chr16,2485874,2485874,C,T,R014_S,CCNF,Silent,NM_001761,exon4,c.C346T,p.L116L,SNP,SNVindel,exonic,CCNF,NA,synonymous SNV,CCNF:NM_001761:exon4:c.C346T:p.L116L,NA,NA,NA,NA,NA,NA
chr16,3188458,3188458,C,T,R014_S,ZNF213,Missense_Mutation,NM_001134655,exon3,c.C439T,p.R147W,SNP,SNVindel,exonic,ZNF213,NA,nonsynonymous SNV,"ZNF213:NM_001134655:exon3:c.C439T:p.R147W,ZNF213:NM_004220:exon3:c.C439T:p.R147W",D,N,N,T,N,T
chr16,9943632,9943632,G,A,R014_S,GRIN2A,Missense_Mutation,NM_001134407,exon5,c.C1309T,p.R437W,SNP,SNVindel,exonic,GRIN2A,NA,nonsynonymous SNV,"GRIN2A:NM_001134407:exon5:c.C1309T:p.R437W,GRIN2A:NM_001134408:exon5:c.C1309T:p.R437W,GRIN2A:NM_000833:exon6:c.C1309T:p.R437W",D,D,D,T,D,T
chr16,20976211,20976211,C,T,R014_S,DNAH3,Missense_Mutation,NM_001347886,exon53,c.G8857A,p.V2953M,SNP,SNVindel,exonic,DNAH3,NA,nonsynonymous SNV,"DNAH3:NM_001347886:exon53:c.G8857A:p.V2953M,DNAH3:NM_017539:exon53:c.G8995A:p.V2999M",D,D,D,T,D,D
chr16,30369827,30369827,C,T,R014_S,TBC1D10B,Missense_Mutation,NM_015527,exon9,c.G1865A,p.R622Q,SNP,SNVindel,exonic,TBC1D10B,NA,nonsynonymous SNV,TBC1D10B:NM_015527:exon9:c.G1865A:p.R622Q,T,D,D,D,N,D
chr16,30768346,30768346,C,T,R014_S,PHKG2,Silent,NM_000294,exon10,c.C1149T,p.P383P,SNP,SNVindel,exonic,PHKG2,NA,synonymous SNV,PHKG2:NM_000294:exon10:c.C1149T:p.P383P,NA,NA,NA,NA,NA,NA
chr16,84695330,84695330,C,T,R014_S,KLHL36,Missense_Mutation,NM_001303451,exon4,c.C1253T,p.T418M,SNP,SNVindel,exonic,KLHL36,NA,nonsynonymous SNV,"KLHL36:NM_001303451:exon4:c.C1253T:p.T418M,KLHL36:NM_024731:exon5:c.C1442T:p.T481M",D,D,D,T,N,T
chr17,729232,729232,G,A,R014_S,NXN,Silent,NM_001205319,exon2,c.C123T,p.N41N,SNP,SNVindel,exonic,NXN,NA,synonymous SNV,"NXN:NM_001205319:exon2:c.C123T:p.N41N,NXN:NM_022463:exon2:c.C447T:p.N149N",NA,NA,NA,NA,NA,NA
chr17,1028676,1028676,C,T,R014_S,ABR,Missense_Mutation,NM_001322841,exon2,c.G865A,p.D289N,SNP,SNVindel,exonic,ABR,NA,nonsynonymous SNV,"ABR:NM_001322841:exon2:c.G865A:p.D289N,ABR:NM_021962:exon2:c.G88A:p.D30N",T,D,D,T,N,T
chr17,3937480,3937480,C,T,R014_S,ZZEF1,Missense_Mutation,NM_015113,exon40,c.G6413A,p.G2138D,SNP,SNVindel,exonic,ZZEF1,NA,nonsynonymous SNV,ZZEF1:NM_015113:exon40:c.G6413A:p.G2138D,D,D,D,T,D,T
chr17,6703366,6703366,G,A,R014_S,TEKT1,Missense_Mutation,NM_053285,exon8,c.C1237T,p.R413C,SNP,SNVindel,exonic,TEKT1,NA,nonsynonymous SNV,TEKT1:NM_053285:exon8:c.C1237T:p.R413C,T,N,N,T,N,T
chr17,7139554,7139554,C,G,R014_S,PHF23,Missense_Mutation,NM_001284517,exon4,c.G491C,p.R164T,SNP,SNVindel,exonic,PHF23,NA,nonsynonymous SNV,"PHF23:NM_001284517:exon4:c.G491C:p.R164T,PHF23:NM_001284518:exon4:c.G680C:p.R227T,PHF23:NM_024297:exon4:c.G692C:p.R231T",D,N,D,T,N,T
chr17,7483294,7483294,C,T,R014_S,CD68,Silent,NM_001040059,exon2,c.C135T,p.H45H,SNP,SNVindel,exonic,CD68,NA,synonymous SNV,"CD68:NM_001040059:exon2:c.C135T:p.H45H,CD68:NM_001251:exon2:c.C216T:p.H72H",NA,NA,NA,NA,NA,NA
chr17,7578406,7578406,C,T,R014_S,TP53,Missense_Mutation,NM_001126115,exon1,c.G128A,p.R43H,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon1:c.G128A:p.R43H,TP53:NM_001126116:exon1:c.G128A:p.R43H,TP53:NM_001126117:exon1:c.G128A:p.R43H,TP53:NM_001276697:exon1:c.G47A:p.R16H,TP53:NM_001276698:exon1:c.G47A:p.R16H,TP53:NM_001276699:exon1:c.G47A:p.R16H,TP53:NM_001126118:exon4:c.G407A:p.R136H,TP53:NM_000546:exon5:c.G524A:p.R175H,TP53:NM_001126112:exon5:c.G524A:p.R175H,TP53:NM_001126113:exon5:c.G524A:p.R175H,TP53:NM_001126114:exon5:c.G524A:p.R175H,TP53:NM_001276695:exon5:c.G407A:p.R136H,TP53:NM_001276696:exon5:c.G407A:p.R136H,TP53:NM_001276760:exon5:c.G407A:p.R136H,TP53:NM_001276761:exon5:c.G407A:p.R136H",D,D,A,D,D,D
chr17,8416902,8416902,G,A,R014_S,MYH10,Missense_Mutation,NM_005964,exon21,c.C2606T,p.T869M,SNP,SNVindel,exonic,MYH10,NA,nonsynonymous SNV,"MYH10:NM_005964:exon21:c.C2606T:p.T869M,MYH10:NM_001256095:exon22:c.C2633T:p.T878M,MYH10:NM_001256012:exon23:c.C2699T:p.T900M",T,D,N,D,N,T
chr17,10448685,10448685,G,A,R014_S,MYH2,Silent,NM_001100112,exon5,c.C483T,p.N161N,SNP,SNVindel,exonic,MYH2,NA,synonymous SNV,"MYH2:NM_001100112:exon5:c.C483T:p.N161N,MYH2:NM_017534:exon5:c.C483T:p.N161N",NA,NA,NA,NA,NA,NA
chr17,29653021,29653021,C,T,R014_S,NF1,Silent,NM_000267,exon36,c.C4956T,p.N1652N,SNP,SNVindel,exonic,NF1,NA,synonymous SNV,"NF1:NM_000267:exon36:c.C4956T:p.N1652N,NF1:NM_001042492:exon37:c.C5019T:p.N1673N",NA,NA,NA,NA,NA,NA
chr17,29661945,29661945,C,T,R014_S,NF1,Nonsense_Mutation,NM_000267,exon39,c.C5839T,p.R1947X,SNP,SNVindel,exonic,NF1,NA,stopgain,"NF1:NM_000267:exon39:c.C5839T:p.R1947X,NF1:NM_001042492:exon40:c.C5902T:p.R1968X",.,D,A,.,.,.
chr17,30981567,30981567,G,A,R014_S,MYO1D,Silent,NM_001303279,exon18,c.C2418T,p.A806A,SNP,SNVindel,exonic,MYO1D,NA,synonymous SNV,"MYO1D:NM_001303279:exon18:c.C2418T:p.A806A,MYO1D:NM_015194:exon18:c.C2418T:p.A806A",NA,NA,NA,NA,NA,NA
chr17,39197537,39197537,C,T,R014_S,KRTAP1-1,Missense_Mutation,NM_030967,exon1,c.G113A,p.R38H,SNP,SNVindel,exonic,KRTAP1-1,NA,nonsynonymous SNV,KRTAP1-1:NM_030967:exon1:c.G113A:p.R38H,D,.,N,T,N,T
chr17,39274131,39274131,C,T,R014_S,KRTAP4-11,Missense_Mutation,NM_033059,exon1,c.G437A,p.R146H,SNP,SNVindel,exonic,KRTAP4-11,NA,nonsynonymous SNV,KRTAP4-11:NM_033059:exon1:c.G437A:p.R146H,D,U,N,T,D,T
chr17,39661416,39661416,G,A,R014_S,KRT13,Silent,NM_002274,exon1,c.C387T,p.N129N,SNP,SNVindel,exonic,KRT13,NA,synonymous SNV,"KRT13:NM_002274:exon1:c.C387T:p.N129N,KRT13:NM_153490:exon1:c.C387T:p.N129N",NA,NA,NA,NA,NA,NA
chr17,40462634,40462634,C,T,R014_S,STAT5A,Missense_Mutation,NM_001288719,exon18,c.C2242T,p.R748C,SNP,SNVindel,exonic,STAT5A,NA,nonsynonymous SNV,"STAT5A:NM_001288719:exon18:c.C2242T:p.R748C,STAT5A:NM_001288720:exon18:c.C2239T:p.R747C,STAT5A:NM_001288718:exon19:c.C2332T:p.R778C,STAT5A:NM_003152:exon20:c.C2332T:p.R778C",D,D,N,D,N,T
chr17,41004930,41004930,G,A,R014_S,AOC3,Missense_Mutation,NM_001277731,exon1,c.G1570A,p.A524T,SNP,SNVindel,exonic,AOC3,NA,nonsynonymous SNV,"AOC3:NM_001277731:exon1:c.G1570A:p.A524T,AOC3:NM_003734:exon1:c.G1570A:p.A524T",D,D,D,T,N,T
chr17,45234725,45234725,T,C,R014_S,CDC27,Silent,NM_001353050,exon4,c.A192G,p.T64T,SNP,SNVindel,exonic,CDC27,NA,synonymous SNV,"CDC27:NM_001353050:exon4:c.A192G:p.T64T,CDC27:NM_001293091:exon5:c.A318G:p.T106T,CDC27:NM_001353049:exon5:c.A318G:p.T106T,CDC27:NM_001114091:exon6:c.A501G:p.T167T,CDC27:NM_001256:exon6:c.A501G:p.T167T,CDC27:NM_001293089:exon6:c.A501G:p.T167T,CDC27:NM_001353035:exon6:c.A501G:p.T167T,CDC27:NM_001353047:exon6:c.A501G:p.T167T",NA,NA,NA,NA,NA,NA
chr17,48265991,48265991,C,T,R014_S,COL1A1,Missense_Mutation,NM_000088,exon43,c.G3107A,p.R1036H,SNP,SNVindel,exonic,COL1A1,NA,nonsynonymous SNV,COL1A1:NM_000088:exon43:c.G3107A:p.R1036H,D,D,D,D,D,D
chr17,56582201,56582201,C,T,R014_S,MTMR4,Missense_Mutation,NM_004687,exon12,c.G1238A,p.R413H,SNP,SNVindel,exonic,MTMR4,NA,nonsynonymous SNV,MTMR4:NM_004687:exon12:c.G1238A:p.R413H,D,N,D,D,D,D
chr17,60038440,60038440,A,G,R014_S,MED13,Silent,NM_005121,exon23,c.T5268C,p.C1756C,SNP,SNVindel,exonic,MED13,NA,synonymous SNV,MED13:NM_005121:exon23:c.T5268C:p.C1756C,NA,NA,NA,NA,NA,NA
chr17,65941849,65941849,G,A,R014_S,BPTF,Missense_Mutation,NM_182641,exon21,c.G7025A,p.R2342H,SNP,SNVindel,exonic,BPTF,NA,nonsynonymous SNV,"BPTF:NM_182641:exon21:c.G7025A:p.R2342H,BPTF:NM_004459:exon23:c.G7403A:p.R2468H",D,.,N,D,N,T
chr17,66343308,66343308,T,C,R014_S,ARSG,Missense_Mutation,NM_001267727,exon4,c.T449C,p.F150S,SNP,SNVindel,exonic,ARSG,NA,nonsynonymous SNV,"ARSG:NM_001267727:exon4:c.T449C:p.F150S,ARSG:NM_001352899:exon4:c.T449C:p.F150S,ARSG:NM_001352900:exon4:c.T449C:p.F150S,ARSG:NM_001352901:exon4:c.T449C:p.F150S,ARSG:NM_001352902:exon4:c.T449C:p.F150S,ARSG:NM_001352903:exon4:c.T449C:p.F150S,ARSG:NM_001352904:exon4:c.T449C:p.F150S,ARSG:NM_001352905:exon4:c.T449C:p.F150S,ARSG:NM_001352906:exon4:c.T449C:p.F150S,ARSG:NM_001352907:exon4:c.T449C:p.F150S,ARSG:NM_001352910:exon4:c.T449C:p.F150S,ARSG:NM_014960:exon4:c.T449C:p.F150S",.,N,D,D,.,T
chr17,72470705,72470705,G,A,R014_S,CD300A,Silent,NM_001256841,exon2,c.G75A,p.A25A,SNP,SNVindel,exonic,CD300A,NA,synonymous SNV,"CD300A:NM_001256841:exon2:c.G75A:p.A25A,CD300A:NM_001330457:exon2:c.G75A:p.A25A,CD300A:NM_001330456:exon3:c.G24A:p.A8A,CD300A:NM_007261:exon3:c.G414A:p.A138A",NA,NA,NA,NA,NA,NA
chr17,72521970,72521970,C,T,R014_S,CD300LB,Missense_Mutation,NM_174892,exon2,c.G287A,p.R96Q,SNP,SNVindel,exonic,CD300LB,NA,nonsynonymous SNV,CD300LB:NM_174892:exon2:c.G287A:p.R96Q,T,N,N,.,N,T
chr17,73758895,73758895,C,T,R014_S,GALK1,Missense_Mutation,NM_000154,exon5,c.G683A,p.R228H,SNP,SNVindel,exonic,GALK1,NA,nonsynonymous SNV,GALK1:NM_000154:exon5:c.G683A:p.R228H,T,D,D,D,N,T
chr17,80039971,80039971,C,T,R014_S,FASN,Missense_Mutation,NM_004104,exon36,c.G6077A,p.R2026H,SNP,SNVindel,exonic,FASN,NA,nonsynonymous SNV,FASN:NM_004104:exon36:c.G6077A:p.R2026H,D,D,D,T,D,T
chr18,12122383,12122383,G,A,R014_S,ANKRD62,Missense_Mutation,NM_001277333,exon11,c.G1322A,p.R441Q,SNP,SNVindel,exonic,ANKRD62,NA,nonsynonymous SNV,ANKRD62:NM_001277333:exon11:c.G1322A:p.R441Q,.,.,N,.,.,T
chr18,24496573,24496573,C,T,R014_S,CHST9,Missense_Mutation,NM_031422,exon6,c.G982A,p.V328I,SNP,SNVindel,exonic,CHST9,NA,nonsynonymous SNV,CHST9:NM_031422:exon6:c.G982A:p.V328I,.,D,D,T,.,D
chr18,44543223,44543223,G,A,R014_S,ELOA3C,Silent,NM_001242907,exon1,c.C1149T,p.A383A,SNP,SNVindel,exonic,ELOA3C;ELOA3D,NA,synonymous SNV,"ELOA3D:NM_001242907:exon1:c.C1149T:p.A383A,ELOA3C:NM_001354366:exon1:c.C1149T:p.A383A",NA,NA,NA,NA,NA,NA
chr18,47796117,47796117,G,A,R014_S,MBD1,Nonsense_Mutation,NM_001204143,exon14,c.C1537T,p.R513X,SNP,SNVindel,exonic,MBD1,NA,stopgain,MBD1:NM_001204143:exon14:c.C1537T:p.R513X,T,.,D,D,N,D
chr18,77193582,77193582,G,A,R014_S,NFATC1,Silent,NM_001278669,exon3,c.G1230A,p.P410P,SNP,SNVindel,exonic,NFATC1,NA,synonymous SNV,"NFATC1:NM_001278669:exon3:c.G1230A:p.P410P,NFATC1:NM_001278670:exon3:c.G1230A:p.P410P,NFATC1:NM_001278672:exon3:c.G1191A:p.P397P,NFATC1:NM_001278675:exon3:c.G1191A:p.P397P,NFATC1:NM_006162:exon3:c.G1230A:p.P410P,NFATC1:NM_172387:exon3:c.G1191A:p.P397P,NFATC1:NM_172389:exon3:c.G1191A:p.P397P,NFATC1:NM_172390:exon3:c.G1230A:p.P410P",NA,NA,NA,NA,NA,NA
chr19,804922,804922,G,A,R014_S,PTBP1,Missense_Mutation,NM_002819,exon7,c.G700A,p.A234T,SNP,SNVindel,exonic,PTBP1,NA,nonsynonymous SNV,"PTBP1:NM_002819:exon7:c.G700A:p.A234T,PTBP1:NM_031990:exon7:c.G700A:p.A234T,PTBP1:NM_031991:exon7:c.G700A:p.A234T",D,D,D,T,D,D
chr19,1390973,1390973,G,A,R014_S,NDUFS7,Missense_Mutation,NM_001363602,exon5,c.G332A,p.R111H,SNP,SNVindel,exonic,NDUFS7,NA,nonsynonymous SNV,"NDUFS7:NM_001363602:exon5:c.G332A:p.R111H,NDUFS7:NM_024407:exon5:c.G332A:p.R111H",D,.,D,T,D,D
chr19,3533383,3533383,G,A,R014_S,FZR1,Missense_Mutation,NM_001136197,exon9,c.G1067A,p.R356H,SNP,SNVindel,exonic,FZR1,NA,nonsynonymous SNV,"FZR1:NM_001136197:exon9:c.G1067A:p.R356H,FZR1:NM_001136198:exon11:c.G1334A:p.R445H,FZR1:NM_016263:exon12:c.G1334A:p.R445H",D,D,D,T,D,T
chr19,3611989,3611989,G,A,R014_S,CACTIN,Missense_Mutation,NM_001080543,exon10,c.C2209T,p.R737C,SNP,SNVindel,exonic,CACTIN,NA,nonsynonymous SNV,"CACTIN:NM_001080543:exon10:c.C2209T:p.R737C,CACTIN:NM_021231:exon10:c.C2209T:p.R737C",D,D,D,.,D,T
chr19,4047768,4047768,G,A,R014_S,ZBTB7A,Silent,NM_001317990,exon3,c.C1737T,p.F579F,SNP,SNVindel,exonic,ZBTB7A,NA,synonymous SNV,"ZBTB7A:NM_001317990:exon3:c.C1737T:p.F579F,ZBTB7A:NM_015898:exon3:c.C1737T:p.F579F",NA,NA,NA,NA,NA,NA
chr19,4817546,4817546,C,T,R014_S,TICAM1,Missense_Mutation,NM_182919,exon2,c.G844A,p.A282T,SNP,SNVindel,exonic,TICAM1,NA,nonsynonymous SNV,TICAM1:NM_182919:exon2:c.G844A:p.A282T,T,N,N,T,N,T
chr19,6719348,6719348,G,A,R014_S,C3,Silent,NM_000064,exon2,c.C141T,p.H47H,SNP,SNVindel,exonic,C3,NA,synonymous SNV,C3:NM_000064:exon2:c.C141T:p.H47H,NA,NA,NA,NA,NA,NA
chr19,7172340,7172340,C,T,R014_S,INSR,Missense_Mutation,NM_000208,exon5,c.G1229A,p.R410Q,SNP,SNVindel,exonic,INSR,NA,nonsynonymous SNV,"INSR:NM_000208:exon5:c.G1229A:p.R410Q,INSR:NM_001079817:exon5:c.G1229A:p.R410Q",D,D,D,D,N,T
chr19,7912664,7912664,C,T,R014_S,EVI5L,Missense_Mutation,NM_001159944,exon3,c.C184T,p.R62W,SNP,SNVindel,exonic,EVI5L,NA,nonsynonymous SNV,"EVI5L:NM_001159944:exon3:c.C184T:p.R62W,EVI5L:NM_145245:exon3:c.C184T:p.R62W",D,D,D,T,D,T
chr19,8188415,8188415,C,T,R014_S,FBN3,Silent,NM_001321431,exon24,c.G3015A,p.T1005T,SNP,SNVindel,exonic,FBN3,NA,synonymous SNV,"FBN3:NM_001321431:exon24:c.G3015A:p.T1005T,FBN3:NM_032447:exon24:c.G3015A:p.T1005T",NA,NA,NA,NA,NA,NA
chr19,11313133,11313133,G,A,R014_S,DOCK6,Silent,NM_020812,exon43,c.C5388T,p.D1796D,SNP,SNVindel,exonic,DOCK6,NA,synonymous SNV,"DOCK6:NM_020812:exon43:c.C5388T:p.D1796D,DOCK6:NM_001367830:exon44:c.C5493T:p.D1831D",NA,NA,NA,NA,NA,NA
chr19,14273482,14273482,G,A,R014_S,ADGRL1,Silent,NM_014921,exon5,c.C1131T,p.Y377Y,SNP,SNVindel,exonic,ADGRL1,NA,synonymous SNV,"ADGRL1:NM_014921:exon5:c.C1131T:p.Y377Y,ADGRL1:NM_001008701:exon6:c.C1146T:p.Y382Y",NA,NA,NA,NA,NA,NA
chr19,14817509,14817509,C,T,R014_S,ZNF333,Silent,NM_001300912,exon7,c.C435T,p.A145A,SNP,SNVindel,exonic,ZNF333,NA,synonymous SNV,"ZNF333:NM_001300912:exon7:c.C435T:p.A145A,ZNF333:NM_001352244:exon7:c.C435T:p.A145A,ZNF333:NM_032433:exon7:c.C435T:p.A145A,ZNF333:NM_001352239:exon8:c.C108T:p.A36A,ZNF333:NM_001352240:exon8:c.C108T:p.A36A",.,.,N,T,.,.
chr19,15807850,15807850,C,T,R014_S,CYP4F12,Silent,NM_023944,exon13,c.C1530T,p.G510G,SNP,SNVindel,exonic,CYP4F12,NA,synonymous SNV,CYP4F12:NM_023944:exon13:c.C1530T:p.G510G,NA,NA,NA,NA,NA,NA
chr19,19329820,19329820,T,A,R014_S,NCAN,Missense_Mutation,NM_004386,exon3,c.T170A,p.L57Q,SNP,SNVindel,exonic,NCAN,NA,nonsynonymous SNV,NCAN:NM_004386:exon3:c.T170A:p.L57Q,D,N,D,T,D,T
chr19,19745453,19745453,G,C,R014_S,GMIP,Silent,NM_001288998,exon17,c.C1860G,p.T620T,SNP,SNVindel,exonic,GMIP,NA,synonymous SNV,"GMIP:NM_001288998:exon17:c.C1860G:p.T620T,GMIP:NM_001288999:exon17:c.C1869G:p.T623T,GMIP:NM_016573:exon18:c.C1947G:p.T649T",NA,NA,NA,NA,NA,NA
chr19,33149848,33149848,C,T,R014_S,ANKRD27,Missense_Mutation,NM_032139,exon2,c.G74A,p.C25Y,SNP,SNVindel,exonic,ANKRD27,NA,nonsynonymous SNV,ANKRD27:NM_032139:exon2:c.G74A:p.C25Y,T,D,D,T,N,T
chr19,38901614,38901614,G,A,R014_S,RASGRP4,Missense_Mutation,NM_001146206,exon13,c.C1310T,p.T437M,SNP,SNVindel,exonic,RASGRP4,NA,nonsynonymous SNV,"RASGRP4:NM_001146206:exon13:c.C1310T:p.T437M,RASGRP4:NM_001146207:exon14:c.C1586T:p.T529M,RASGRP4:NM_001146203:exon15:c.C1601T:p.T534M,RASGRP4:NM_001146202:exon16:c.C1835T:p.T612M,RASGRP4:NM_001146204:exon16:c.C1670T:p.T557M,RASGRP4:NM_001146205:exon16:c.C1775T:p.T592M,RASGRP4:NM_170604:exon16:c.C1877T:p.T626M",D,N,N,T,D,T
chr19,42880063,42880063,G,A,R014_S,MEGF8,Silent,NM_001410,exon41,c.G7473A,p.P2491P,SNP,SNVindel,exonic,MEGF8,NA,synonymous SNV,"MEGF8:NM_001410:exon41:c.G7473A:p.P2491P,MEGF8:NM_001271938:exon42:c.G7674A:p.P2558P",NA,NA,NA,NA,NA,NA
chr19,43679545,43679545,G,A,R014_S,PSG5,Silent,NM_001130014,exon4,c.C786T,p.F262F,SNP,SNVindel,exonic,PSG5,NA,synonymous SNV,"PSG5:NM_001130014:exon4:c.C786T:p.F262F,PSG5:NM_002781:exon4:c.C786T:p.F262F",NA,NA,NA,NA,NA,NA
chr19,44622361,44622361,C,T,R014_S,ZNF225,Silent,NM_013362,exon3,c.C36T,p.D12D,SNP,SNVindel,exonic,ZNF225,NA,synonymous SNV,"ZNF225:NM_013362:exon3:c.C36T:p.D12D,ZNF225:NM_001321685:exon4:c.C36T:p.D12D",NA,NA,NA,NA,NA,NA
chr19,49362744,49362744,C,T,R014_S,PLEKHA4,Missense_Mutation,NM_001161354,exon7,c.G674A,p.R225Q,SNP,SNVindel,exonic,PLEKHA4,NA,nonsynonymous SNV,"PLEKHA4:NM_001161354:exon7:c.G674A:p.R225Q,PLEKHA4:NM_020904:exon7:c.G674A:p.R225Q",T,N,N,T,N,T
chr19,50862330,50862330,C,T,R014_S,NAPSA,Missense_Mutation,NM_004851,exon8,c.G973A,p.A325T,SNP,SNVindel,exonic,NAPSA,NA,nonsynonymous SNV,NAPSA:NM_004851:exon8:c.G973A:p.A325T,T,N,N,T,N,T
chr19,54754973,54754973,T,A,R014_S,LILRB5,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,LILRB5,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,55086965,55086965,A,C,R014_S,LILRA2,Missense_Mutation,NM_001290270,exon4,c.A862C,p.N288H,SNP,SNVindel,exonic,LILRA2,NA,nonsynonymous SNV,"LILRA2:NM_001290270:exon4:c.A862C:p.N288H,LILRA2:NM_001130917:exon5:c.A898C:p.N300H,LILRA2:NM_001290271:exon6:c.A898C:p.N300H,LILRA2:NM_006866:exon6:c.A898C:p.N300H",D,N,N,T,D,T
chr19,55177358,55177358,C,T,R014_S,LILRB4,Missense_Mutation,NM_001278429,exon6,c.C937T,p.R313C,SNP,SNVindel,exonic,LILRB4,NA,nonsynonymous SNV,"LILRB4:NM_001278429:exon6:c.C937T:p.R313C,LILRB4:NM_001278426:exon7:c.C850T:p.R284C,LILRB4:NM_001278427:exon7:c.C850T:p.R284C,LILRB4:NM_001278428:exon7:c.C850T:p.R284C",D,.,N,T,D,T
chr19,55699455,55699455,G,A,R014_S,PTPRH,Silent,NM_001161440,exon11,c.C1932T,p.D644D,SNP,SNVindel,exonic,PTPRH,NA,synonymous SNV,"PTPRH:NM_001161440:exon11:c.C1932T:p.D644D,PTPRH:NM_002842:exon13:c.C2466T:p.D822D",NA,NA,NA,NA,NA,NA
chr19,55718096,55718096,C,A,R014_S,PTPRH,Nonsense_Mutation,NM_001161440,exon3,c.G313T,p.G105X,SNP,SNVindel,exonic,PTPRH,NA,stopgain,"PTPRH:NM_001161440:exon3:c.G313T:p.G105X,PTPRH:NM_002842:exon3:c.G313T:p.G105X",.,.,A,.,.,.
chr19,56539737,56539737,C,T,R014_S,NLRP5,Missense_Mutation,NM_153447,exon7,c.C2138T,p.P713L,SNP,SNVindel,exonic,NLRP5,NA,nonsynonymous SNV,NLRP5:NM_153447:exon7:c.C2138T:p.P713L,T,N,N,D,N,T
chr19,56720095,56720095,G,A,R014_S,ZSCAN5C,Silent,NM_001358413,exon4,c.G1017A,p.A339A,SNP,SNVindel,exonic,ZSCAN5C,NA,synonymous SNV,ZSCAN5C:NM_001358413:exon4:c.G1017A:p.A339A,NA,NA,NA,NA,NA,NA
chr20,2844631,2844631,C,T,R014_S,VPS16,Nonsense_Mutation,NM_080413,exon12,c.C1081T,p.R361X,SNP,SNVindel,exonic,VPS16,NA,stopgain,"VPS16:NM_080413:exon12:c.C1081T:p.R361X,VPS16:NM_022575:exon16:c.C1513T:p.R505X",.,N,A,.,.,.
chr20,9510386,9510386,G,A,R014_S,LAMP5,Silent,NM_001199897,exon5,c.G630A,p.A210A,SNP,SNVindel,exonic,LAMP5,NA,synonymous SNV,"LAMP5:NM_001199897:exon5:c.G630A:p.A210A,LAMP5:NM_012261:exon6:c.G762A:p.A254A",NA,NA,NA,NA,NA,NA
chr20,10639284,10639284,C,T,R014_S,JAG1,Missense_Mutation,NM_000214,exon4,c.G526A,p.V176I,SNP,SNVindel,exonic,JAG1,NA,nonsynonymous SNV,JAG1:NM_000214:exon4:c.G526A:p.V176I,T,N,N,D,N,D
chr20,13756597,13756597,C,T,R014_S,ESF1,Silent,NM_001276380,exon3,c.G957A,p.T319T,SNP,SNVindel,exonic,ESF1,NA,synonymous SNV,"ESF1:NM_001276380:exon3:c.G957A:p.T319T,ESF1:NM_016649:exon3:c.G957A:p.T319T",NA,NA,NA,NA,NA,NA
chr20,18535015,18535015,C,T,R014_S,SEC23B,Missense_Mutation,NM_001172745,exon18,c.C2129T,p.T710M,SNP,SNVindel,exonic,SEC23B,NA,nonsynonymous SNV,"SEC23B:NM_001172745:exon18:c.C2129T:p.T710M,SEC23B:NM_001172746:exon18:c.C2075T:p.T692M,SEC23B:NM_006363:exon18:c.C2129T:p.T710M,SEC23B:NM_032985:exon18:c.C2129T:p.T710M,SEC23B:NM_032986:exon18:c.C2129T:p.T710M",D,D,D,T,D,T
chr20,20527349,20527349,G,A,R014_S,RALGAPA2,Missense_Mutation,NM_020343,exon24,c.C3284T,p.T1095M,SNP,SNVindel,exonic,RALGAPA2,NA,nonsynonymous SNV,RALGAPA2:NM_020343:exon24:c.C3284T:p.T1095M,T,D,D,T,N,T
chr20,30602748,30602748,C,T,R014_S,CCM2L,Silent,NM_001365692,exon2,c.C72T,p.A24A,SNP,SNVindel,exonic,CCM2L,NA,synonymous SNV,"CCM2L:NM_001365692:exon2:c.C72T:p.A24A,CCM2L:NM_080625:exon2:c.C72T:p.A24A",NA,NA,NA,NA,NA,NA
chr20,31768339,31768339,C,T,R014_S,BPIFA2,Silent,NM_001319164,exon8,c.C723T,p.H241H,SNP,SNVindel,exonic,BPIFA2,NA,synonymous SNV,"BPIFA2:NM_001319164:exon8:c.C723T:p.H241H,BPIFA2:NM_080574:exon8:c.C723T:p.H241H",NA,NA,NA,NA,NA,NA
chr20,35444329,35444329,C,T,R014_S,SOGA1,Missense_Mutation,NM_080627,exon5,c.G1516A,p.G506R,SNP,SNVindel,exonic,SOGA1,NA,nonsynonymous SNV,"SOGA1:NM_080627:exon5:c.G1516A:p.G506R,SOGA1:NM_199181:exon5:c.G802A:p.G268R",T,N,D,T,N,T
chr20,42788438,42788438,G,A,R014_S,JPH2,Missense_Mutation,NM_020433,exon2,c.C989T,p.T330M,SNP,SNVindel,exonic,JPH2,NA,nonsynonymous SNV,JPH2:NM_020433:exon2:c.C989T:p.T330M,T,U,D,T,D,T
chr20,43945565,43945565,C,T,R014_S,RBPJL,Missense_Mutation,NM_001281449,exon12,c.C1517T,p.T506M,SNP,SNVindel,exonic,RBPJL,NA,nonsynonymous SNV,"RBPJL:NM_001281449:exon12:c.C1517T:p.T506M,RBPJL:NM_014276:exon12:c.C1520T:p.T507M",D,D,D,T,N,T
chr20,44045163,44045163,A,C,R014_S,PIGT,Missense_Mutation,NM_001184728,exon2,c.A194C,p.H65P,SNP,SNVindel,exonic,PIGT,NA,nonsynonymous SNV,"PIGT:NM_001184728:exon2:c.A194C:p.H65P,PIGT:NM_001184729:exon2:c.A194C:p.H65P,PIGT:NM_015937:exon2:c.A194C:p.H65P",D,D,D,T,D,T
chr20,44463739,44463739,C,T,R014_S,SNX21,Missense_Mutation,NM_001042632,exon3,c.C431T,p.P144L,SNP,SNVindel,exonic,SNX21,NA,nonsynonymous SNV,"SNX21:NM_001042632:exon3:c.C431T:p.P144L,SNX21:NM_001042633:exon3:c.C431T:p.P144L,SNX21:NM_033421:exon3:c.C431T:p.P144L,SNX21:NM_152897:exon3:c.C431T:p.P144L",D,N,D,T,D,T
chr20,44592129,44592129,G,A,R014_S,ZNF335,Missense_Mutation,NM_022095,exon9,c.C1516T,p.R506C,SNP,SNVindel,exonic,ZNF335,NA,nonsynonymous SNV,ZNF335:NM_022095:exon9:c.C1516T:p.R506C,D,D,D,T,D,T
chr20,46276052,46276052,G,A,R014_S,NCOA3,Missense_Mutation,NM_001174087,exon18,c.G3488A,p.R1163Q,SNP,SNVindel,exonic,NCOA3,NA,nonsynonymous SNV,"NCOA3:NM_001174087:exon18:c.G3488A:p.R1163Q,NCOA3:NM_001174088:exon18:c.G3473A:p.R1158Q,NCOA3:NM_006534:exon18:c.G3488A:p.R1163Q,NCOA3:NM_181659:exon18:c.G3488A:p.R1163Q",T,D,D,T,N,T
chr20,57415693,57415693,G,A,R014_S,GNAS,Missense_Mutation,NM_016592,exon1,c.G532A,p.A178T,SNP,SNVindel,exonic,GNAS,NA,nonsynonymous SNV,GNAS:NM_016592:exon1:c.G532A:p.A178T,D,.,N,.,N,T
chr20,57430002,57430002,G,A,R014_S,GNAS,Missense_Mutation,NM_001077490,exon1,c.G1495A,p.A499T,SNP,SNVindel,exonic,GNAS,NA,nonsynonymous SNV,"GNAS:NM_001077490:exon1:c.G1495A:p.A499T,GNAS:NM_001309883:exon1:c.G1495A:p.A499T,GNAS:NM_080425:exon1:c.G1682A:p.R561H",T,N,N,D,N,T
chr20,62193017,62193017,C,T,R014_S,HELZ2,Missense_Mutation,NM_033405,exon7,c.G5066A,p.R1689H,SNP,SNVindel,exonic,HELZ2,NA,nonsynonymous SNV,"HELZ2:NM_033405:exon7:c.G5066A:p.R1689H,HELZ2:NM_001037335:exon13:c.G6773A:p.R2258H",D,N,N,D,N,T
chr20,62730083,62730083,C,T,R014_S,OPRL1,Silent,NM_001318854,exon3,c.C1029T,p.R343R,SNP,SNVindel,exonic,OPRL1,NA,synonymous SNV,"OPRL1:NM_001318854:exon3:c.C1029T:p.R343R,OPRL1:NM_001318855:exon3:c.C957T:p.R319R,OPRL1:NM_000913:exon4:c.C1044T:p.R348R,OPRL1:NM_182647:exon5:c.C1044T:p.R348R,OPRL1:NM_001200019:exon6:c.C1044T:p.R348R",NA,NA,NA,NA,NA,NA
chr21,15011856,15011856,G,A,R014_S,POTED,Missense_Mutation,NM_174981,exon10,c.G1430A,p.R477Q,SNP,SNVindel,exonic,POTED,NA,nonsynonymous SNV,POTED:NM_174981:exon10:c.G1430A:p.R477Q,T,.,N,T,N,T
chr21,41427743,41427743,C,T,R014_S,DSCAM,Silent,NM_001271534,exon29,c.G4944A,p.T1648T,SNP,SNVindel,exonic,DSCAM,NA,synonymous SNV,"DSCAM:NM_001271534:exon29:c.G4944A:p.T1648T,DSCAM:NM_001389:exon29:c.G4944A:p.T1648T",NA,NA,NA,NA,NA,NA
chr21,46011717,46011717,T,C,R014_S,KRTAP10-6,Missense_Mutation,NM_198688,exon1,c.A649G,p.T217A,SNP,SNVindel,exonic,KRTAP10-6,NA,nonsynonymous SNV,KRTAP10-6:NM_198688:exon1:c.A649G:p.T217A,T,.,P,T,N,T
chr21,47980661,47980661,C,T,R014_S,DIP2A,Silent,NM_001146116,exon33,c.C3984T,p.T1328T,SNP,SNVindel,exonic,DIP2A,NA,synonymous SNV,"DIP2A:NM_001146116:exon33:c.C3984T:p.T1328T,DIP2A:NM_001353942:exon33:c.C3999T:p.T1333T,DIP2A:NM_001353943:exon33:c.C3996T:p.T1332T,DIP2A:NM_015151:exon33:c.C3996T:p.T1332T",NA,NA,NA,NA,NA,NA
chr22,17690467,17690467,C,T,R014_S,ADA2,Missense_Mutation,NM_001282225,exon2,c.G101A,p.R34Q,SNP,SNVindel,exonic,ADA2,NA,nonsynonymous SNV,"ADA2:NM_001282225:exon2:c.G101A:p.R34Q,ADA2:NM_001282226:exon2:c.G101A:p.R34Q",T,N,N,T,N,T
chr22,18022254,18022254,G,A,R014_S,CECR2,Missense_Mutation,NM_001290046,exon16,c.G1933A,p.V645M,SNP,SNVindel,exonic,CECR2,NA,nonsynonymous SNV,CECR2:NM_001290046:exon16:c.G1933A:p.V645M,T,N,N,T,N,T
chr22,21385810,21385810,G,A,R014_S,SLC7A4,Missense_Mutation,NM_004173,exon2,c.C292T,p.R98C,SNP,SNVindel,exonic,SLC7A4,NA,nonsynonymous SNV,SLC7A4:NM_004173:exon2:c.C292T:p.R98C,T,N,D,D,D,T
chr22,21975853,21975853,G,A,R014_S,UBE2L3,Silent,NM_001256356,exon3,c.G264A,p.P88P,SNP,SNVindel,exonic,UBE2L3,NA,synonymous SNV,"UBE2L3:NM_001256356:exon3:c.G264A:p.P88P,UBE2L3:NM_001256355:exon4:c.G534A:p.P178P,UBE2L3:NM_003347:exon4:c.G360A:p.P120P",NA,NA,NA,NA,NA,NA
chr22,21975856,21975856,T,C,R014_S,UBE2L3,Silent,NM_001256356,exon3,c.T267C,p.L89L,SNP,SNVindel,exonic,UBE2L3,NA,synonymous SNV,"UBE2L3:NM_001256356:exon3:c.T267C:p.L89L,UBE2L3:NM_001256355:exon4:c.T537C:p.L179L,UBE2L3:NM_003347:exon4:c.T363C:p.L121L",NA,NA,NA,NA,NA,NA
chr22,24584203,24584203,C,T,R014_S,SUSD2,Silent,NM_019601,exon14,c.C2352T,p.Y784Y,SNP,SNVindel,exonic,SUSD2,NA,synonymous SNV,SUSD2:NM_019601:exon14:c.C2352T:p.Y784Y,NA,NA,NA,NA,NA,NA
chr22,29439310,29439310,G,A,R014_S,ZNRF3,Silent,NM_001206998,exon4,c.G525A,p.P175P,SNP,SNVindel,exonic,ZNRF3,NA,synonymous SNV,"ZNRF3:NM_001206998:exon4:c.G525A:p.P175P,ZNRF3:NM_032173:exon4:c.G225A:p.P75P",NA,NA,NA,NA,NA,NA
chr22,30185133,30185133,G,A,R014_S,ASCC2,Nonsense_Mutation,NM_001369942,exon17,c.C1609T,p.R537X,SNP,SNVindel,exonic,ASCC2,NA,stopgain,"ASCC2:NM_001369942:exon17:c.C1609T:p.R537X,ASCC2:NM_001369944:exon17:c.C1435T:p.R479X,ASCC2:NM_001369947:exon17:c.C1435T:p.R479X,ASCC2:NM_001369930:exon18:c.C1909T:p.R637X,ASCC2:NM_001369936:exon18:c.C1801T:p.R601X,ASCC2:NM_001369943:exon18:c.C1435T:p.R479X,ASCC2:NM_001369950:exon18:c.C1429T:p.R477X,ASCC2:NM_001242906:exon19:c.C1915T:p.R639X,ASCC2:NM_001369925:exon19:c.C1999T:p.R667X,ASCC2:NM_001369927:exon19:c.C1984T:p.R662X,ASCC2:NM_001369929:exon19:c.C1972T:p.R658X,ASCC2:NM_001369934:exon19:c.C1801T:p.R601X,ASCC2:NM_001369937:exon19:c.C1801T:p.R601X,ASCC2:NM_001369939:exon19:c.C1801T:p.R601X,ASCC2:NM_001369941:exon19:c.C1789T:p.R597X,ASCC2:NM_001369949:exon19:c.C1435T:p.R479X,ASCC2:NM_001369920:exon20:c.C2158T:p.R720X,ASCC2:NM_001369924:exon20:c.C2131T:p.R711X,ASCC2:NM_001369926:exon20:c.C1984T:p.R662X,ASCC2:NM_001369933:exon20:c.C1801T:p.R601X,ASCC2:NM_001369940:exon20:c.C1801T:p.R601X,ASCC2:NM_001369945:exon20:c.C1435T:p.R479X,ASCC2:NM_032204:exon20:c.C2143T:p.R715X,ASCC2:NM_001369922:exon21:c.C2143T:p.R715X,ASCC2:NM_001369923:exon21:c.C2143T:p.R715X,ASCC2:NM_001369928:exon21:c.C1984T:p.R662X,ASCC2:NM_001369932:exon21:c.C1801T:p.R601X,ASCC2:NM_001369935:exon21:c.C1801T:p.R601X,ASCC2:NM_001369938:exon21:c.C1801T:p.R601X,ASCC2:NM_001369946:exon21:c.C1435T:p.R479X,ASCC2:NM_001369948:exon21:c.C1435T:p.R479X,ASCC2:NM_001369921:exon22:c.C2143T:p.R715X,ASCC2:NM_001369931:exon23:c.C1801T:p.R601X",.,D,D,.,.,.
chr22,30983376,30983376,C,T,R014_S,PES1,Missense_Mutation,NM_001243225,exon4,c.G265A,p.V89I,SNP,SNVindel,exonic,PES1,NA,nonsynonymous SNV,"PES1:NM_001243225:exon4:c.G265A:p.V89I,PES1:NM_014303:exon4:c.G265A:p.V89I",T,D,D,T,N,T
chr22,39019242,39019242,G,A,R014_S,FAM227A,Missense_Mutation,NM_001013647,exon10,c.C893T,p.S298L,SNP,SNVindel,exonic,FAM227A,NA,nonsynonymous SNV,"FAM227A:NM_001013647:exon10:c.C893T:p.S298L,FAM227A:NM_001291030:exon10:c.C614T:p.S205L",D,N,N,.,D,T
chr22,39112017,39112017,G,A,R014_S,GTPBP1,Missense_Mutation,NM_004286,exon3,c.G410A,p.R137Q,SNP,SNVindel,exonic,GTPBP1,NA,nonsynonymous SNV,GTPBP1:NM_004286:exon3:c.G410A:p.R137Q,T,D,D,T,D,T
chr22,46760094,46760094,G,A,R014_S,CELSR1,Missense_Mutation,NM_014246,exon34,c.C8834T,p.T2945M,SNP,SNVindel,exonic,CELSR1,NA,nonsynonymous SNV,CELSR1:NM_014246:exon34:c.C8834T:p.T2945M,D,U,N,T,N,T
chr22,46765643,46765643,C,T,R014_S,CELSR1,Silent,NM_014246,exon26,c.G7818A,p.S2606S,SNP,SNVindel,exonic,CELSR1,NA,synonymous SNV,CELSR1:NM_014246:exon26:c.G7818A:p.S2606S,NA,NA,NA,NA,NA,NA
chr22,50616011,50616011,C,T,R014_S,PANX2,Silent,NM_001160300,exon2,c.C870T,p.I290I,SNP,SNVindel,exonic,PANX2,NA,synonymous SNV,"PANX2:NM_001160300:exon2:c.C870T:p.I290I,PANX2:NM_052839:exon2:c.C870T:p.I290I",NA,NA,NA,NA,NA,NA
chrX,15800641,15800641,G,A,R014_S,CA5B,Missense_Mutation,NM_007220,exon8,c.G808A,p.E270K,SNP,SNVindel,exonic,CA5B,NA,nonsynonymous SNV,CA5B:NM_007220:exon8:c.G808A:p.E270K,D,N,N,T,N,T
chrX,18797154,18797154,G,A,R014_S,PPEF1,Silent,NM_006240,exon10,c.G585A,p.P195P,SNP,SNVindel,exonic,PPEF1,NA,synonymous SNV,"PPEF1:NM_006240:exon10:c.G585A:p.P195P,PPEF1:NM_152224:exon10:c.G585A:p.P195P,PPEF1:NM_152226:exon10:c.G585A:p.P195P",NA,NA,NA,NA,NA,NA
chrX,24741360,24741360,G,A,R014_S,POLA1,Silent,NM_001330360,exon11,c.G1176A,p.T392T,SNP,SNVindel,exonic,POLA1,NA,synonymous SNV,"POLA1:NM_001330360:exon11:c.G1176A:p.T392T,POLA1:NM_016937:exon11:c.G1158A:p.T386T",NA,NA,NA,NA,NA,NA
chrX,48419269,48419269,G,A,R014_S,TBC1D25,Missense_Mutation,NM_001348262,exon6,c.G2021A,p.R674H,SNP,SNVindel,exonic,TBC1D25,NA,nonsynonymous SNV,"TBC1D25:NM_001348262:exon6:c.G2021A:p.R674H,TBC1D25:NM_001348263:exon6:c.G1985A:p.R662H,TBC1D25:NM_001348264:exon6:c.G1799A:p.R600H,TBC1D25:NM_001348265:exon6:c.G1799A:p.R600H,TBC1D25:NM_002536:exon6:c.G1973A:p.R658H",D,N,N,T,D,T
chrX,48624282,48624282,C,T,R014_S,GLOD5,Missense_Mutation,NM_001080489,exon2,c.C106T,p.R36C,SNP,SNVindel,exonic,GLOD5,NA,nonsynonymous SNV,GLOD5:NM_001080489:exon2:c.C106T:p.R36C,T,N,N,.,N,T
chrX,49074243,49074243,G,A,R014_S,CACNA1F,Silent,NM_001256789,exon26,c.C3060T,p.D1020D,SNP,SNVindel,exonic,CACNA1F,NA,synonymous SNV,"CACNA1F:NM_001256789:exon26:c.C3060T:p.D1020D,CACNA1F:NM_001256790:exon26:c.C2898T:p.D966D,CACNA1F:NM_005183:exon26:c.C3093T:p.D1031D",NA,NA,NA,NA,NA,NA
chrX,50129422,50129422,C,G,R014_S,DGKK,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,DGKK,NA,unknown,UNKNOWN,.,.,.,.,.,.
chrX,54497809,54497809,G,A,R014_S,FGD1,Missense_Mutation,NM_004463,exon2,c.C419T,p.P140L,SNP,SNVindel,exonic,FGD1,NA,nonsynonymous SNV,FGD1:NM_004463:exon2:c.C419T:p.P140L,D,N,D,T,N,T
chrX,84526735,84526735,A,C,R014_S,ZNF711,Missense_Mutation,NM_021998,exon9,c.A2187C,p.K729N,SNP,SNVindel,exonic,ZNF711,NA,nonsynonymous SNV,"ZNF711:NM_021998:exon9:c.A2187C:p.K729N,ZNF711:NM_001330574:exon11:c.A2325C:p.K775N",T,D,D,T,N,T
chrX,86873111,86873111,G,A,R014_S,KLHL4,Missense_Mutation,NM_019117,exon4,c.G904A,p.V302M,SNP,SNVindel,exonic,KLHL4,NA,nonsynonymous SNV,"KLHL4:NM_019117:exon4:c.G904A:p.V302M,KLHL4:NM_057162:exon4:c.G904A:p.V302M",D,D,D,T,N,T
chrX,100403014,100403014,C,T,R014_S,CENPI,Missense_Mutation,NM_006733,exon19,c.C1958T,p.T653M,SNP,SNVindel,exonic,CENPI,NA,nonsynonymous SNV,"CENPI:NM_006733:exon19:c.C1958T:p.T653M,CENPI:NM_001318521:exon20:c.C1958T:p.T653M",D,D,D,.,N,T
chrX,107084559,107084559,G,A,R014_S,MID2,Missense_Mutation,NM_012216,exon2,c.G664A,p.G222S,SNP,SNVindel,exonic,MID2,NA,nonsynonymous SNV,"MID2:NM_012216:exon2:c.G664A:p.G222S,MID2:NM_052817:exon2:c.G664A:p.G222S",D,D,D,T,D,T
chrX,117043736,117043736,C,T,R014_S,KLHL13,Silent,NM_001168300,exon5,c.G876A,p.T292T,SNP,SNVindel,exonic,KLHL13,NA,synonymous SNV,"KLHL13:NM_001168300:exon5:c.G876A:p.T292T,KLHL13:NM_001168303:exon5:c.G768A:p.T256T,KLHL13:NM_033495:exon5:c.G894A:p.T298T,KLHL13:NM_001168299:exon6:c.G903A:p.T301T,KLHL13:NM_001168301:exon6:c.G846A:p.T282T,KLHL13:NM_001168302:exon6:c.G846A:p.T282T",NA,NA,NA,NA,NA,NA
chrX,153055688,153055688,G,A,R014_S,IDH3G,Silent,NM_004135,exon4,c.C195T,p.I65I,SNP,SNVindel,exonic,IDH3G,NA,synonymous SNV,"IDH3G:NM_004135:exon4:c.C195T:p.I65I,IDH3G:NM_174869:exon4:c.C195T:p.I65I",NA,NA,NA,NA,NA,NA
chrX,153539493,153539493,G,A,R014_S,TKTL1,Missense_Mutation,NM_001145934,exon4,c.G406A,p.V136M,SNP,SNVindel,exonic,TKTL1,NA,nonsynonymous SNV,"TKTL1:NM_001145934:exon4:c.G406A:p.V136M,TKTL1:NM_001145933:exon5:c.G556A:p.V186M,TKTL1:NM_012253:exon5:c.G574A:p.V192M",D,D,D,T,D,T
chr1,23111560,23111560,G,A,R015_F,EPHB2,Missense_Mutation,NM_001309192,exon3,c.G802A,p.V268I,SNP,SNVindel,exonic,EPHB2,NA,nonsynonymous SNV,"EPHB2:NM_001309192:exon3:c.G802A:p.V268I,EPHB2:NM_001309193:exon3:c.G802A:p.V268I,EPHB2:NM_004442:exon3:c.G802A:p.V268I,EPHB2:NM_017449:exon3:c.G802A:p.V268I",T,N,N,T,N,T
chr1,201113024,201113024,A,C,R015_F,TMEM9,Missense_Mutation,NM_001288565,exon4,c.T323G,p.F108C,SNP,SNVindel,exonic,TMEM9,NA,nonsynonymous SNV,"TMEM9:NM_001288565:exon4:c.T323G:p.F108C,TMEM9:NM_001288564:exon5:c.T323G:p.F108C,TMEM9:NM_001288566:exon5:c.T323G:p.F108C,TMEM9:NM_001288567:exon5:c.T323G:p.F108C,TMEM9:NM_001288568:exon5:c.T323G:p.F108C,TMEM9:NM_001288569:exon5:c.T323G:p.F108C,TMEM9:NM_001288570:exon5:c.T332G:p.F111C,TMEM9:NM_001288571:exon5:c.T398G:p.F133C,TMEM9:NM_016456:exon5:c.T323G:p.F108C",D,D,D,.,D,T
chr1,210948782,210948782,G,A,R015_F,KCNH1,Missense_Mutation,NM_002238,exon10,c.C1939T,p.R647W,SNP,SNVindel,exonic,KCNH1,NA,nonsynonymous SNV,"KCNH1:NM_002238:exon10:c.C1939T:p.R647W,KCNH1:NM_172362:exon10:c.C2020T:p.R674W",D,D,D,D,D,D
chr1,247886878,247886878,C,T,R015_F,OR14A2,Silent,NM_001355292,exon5,c.G468A,p.A156A,SNP,SNVindel,exonic,OR14A2,NA,synonymous SNV,OR14A2:NM_001355292:exon5:c.G468A:p.A156A,NA,NA,NA,NA,NA,NA
chr2,26501616,26501616,G,A,R015_F,HADHB,Missense_Mutation,NM_001281512,exon7,c.G532A,p.G178S,SNP,SNVindel,exonic,HADHB,NA,nonsynonymous SNV,"HADHB:NM_001281512:exon7:c.G532A:p.G178S,HADHB:NM_000183:exon8:c.G577A:p.G193S,HADHB:NM_001281513:exon9:c.G511A:p.G171S",T,D,D,D,N,T
chr2,85570849,85570849,C,T,R015_F,RETSAT,Missense_Mutation,NM_017750,exon10,c.G1606A,p.G536R,SNP,SNVindel,exonic,RETSAT,NA,nonsynonymous SNV,RETSAT:NM_017750:exon10:c.G1606A:p.G536R,D,D,P,T,D,D
chr2,85570857,85570857,G,A,R015_F,RETSAT,Missense_Mutation,NM_017750,exon10,c.C1598T,p.A533V,SNP,SNVindel,exonic,RETSAT,NA,nonsynonymous SNV,RETSAT:NM_017750:exon10:c.C1598T:p.A533V,T,D,P,T,N,T
chr2,165996102,165996102,G,A,R015_F,SCN3A,Missense_Mutation,NM_001081676,exon14,c.C1889T,p.T630M,SNP,SNVindel,exonic,SCN3A,NA,nonsynonymous SNV,"SCN3A:NM_001081676:exon14:c.C1889T:p.T630M,SCN3A:NM_001081677:exon14:c.C1889T:p.T630M,SCN3A:NM_006922:exon14:c.C2036T:p.T679M",D,D,D,D,D,D
chr3,68802048,68802048,C,T,R015_F,TAFA4,Silent,NM_001005527,exon4,c.G252A,p.A84A,SNP,SNVindel,exonic,TAFA4,NA,synonymous SNV,"TAFA4:NM_001005527:exon4:c.G252A:p.A84A,TAFA4:NM_182522:exon4:c.G252A:p.A84A",NA,NA,NA,NA,NA,NA
chr3,126261141,126261141,G,A,R015_F,CHST13,Missense_Mutation,NM_152889,exon3,c.G746A,p.R249H,SNP,SNVindel,exonic,CHST13,NA,nonsynonymous SNV,CHST13:NM_152889:exon3:c.G746A:p.R249H,T,U,D,T,N,T
chr4,107845802,107845802,A,T,R015_F,DKK2,Missense_Mutation,NM_014421,exon3,c.T429A,p.D143E,SNP,SNVindel,exonic,DKK2,NA,nonsynonymous SNV,DKK2:NM_014421:exon3:c.T429A:p.D143E,T,N,D,T,N,T
chr4,189018255,189018255,G,A,R015_F,TRIML2,Silent,NM_001303419,exon7,c.C780T,p.C260C,SNP,SNVindel,exonic,TRIML2,NA,synonymous SNV,"TRIML2:NM_001303419:exon7:c.C780T:p.C260C,TRIML2:NM_173553:exon7:c.C705T:p.C235C",NA,NA,NA,NA,NA,NA
chr5,206013,206013,C,T,R015_F,CCDC127,Missense_Mutation,NM_145265,exon3,c.G182A,p.R61Q,SNP,SNVindel,exonic,CCDC127,NA,nonsynonymous SNV,CCDC127:NM_145265:exon3:c.G182A:p.R61Q,T,N,N,T,N,T
chr5,7817087,7817087,C,T,R015_F,ADCY2,Nonsense_Mutation,NM_020546,exon23,c.C2992T,p.R998X,SNP,SNVindel,exonic,ADCY2,NA,stopgain,ADCY2:NM_020546:exon23:c.C2992T:p.R998X,.,D,A,.,.,.
chr5,38409190,38409190,C,T,R015_F,EGFLAM,Missense_Mutation,NM_182798,exon5,c.C631T,p.R211C,SNP,SNVindel,exonic,EGFLAM,NA,nonsynonymous SNV,"EGFLAM:NM_182798:exon5:c.C631T:p.R211C,EGFLAM:NM_001205301:exon10:c.C1333T:p.R445C,EGFLAM:NM_152403:exon10:c.C1333T:p.R445C",D,D,D,T,N,T
chr5,39202474,39202474,C,T,R015_F,FYB1,Missense_Mutation,NM_001243093,exon2,c.G619A,p.A207T,SNP,SNVindel,exonic,FYB1,NA,nonsynonymous SNV,"FYB1:NM_001243093:exon2:c.G619A:p.A207T,FYB1:NM_001465:exon2:c.G589A:p.A197T,FYB1:NM_199335:exon2:c.G589A:p.A197T,FYB1:NM_001349333:exon3:c.G589A:p.A197T,FYB1:NM_018594:exon3:c.G619A:p.A207T",T,N,N,T,N,T
chr6,137477970,137477970,T,A,R015_F,IL22RA2,Missense_Mutation,NM_052962,exon4,c.A219T,p.K73N,SNP,SNVindel,exonic,IL22RA2,NA,nonsynonymous SNV,IL22RA2:NM_052962:exon4:c.A219T:p.K73N,T,.,N,T,N,T
chr7,30537363,30537363,C,T,R015_F,GGCT,Missense_Mutation,NM_001199815,exon3,c.G437A,p.C146Y,SNP,SNVindel,exonic,GGCT,NA,nonsynonymous SNV,GGCT:NM_001199815:exon3:c.G437A:p.C146Y,D,.,N,.,N,T
chr7,98254458,98254458,G,A,R015_F,NPTX2,Missense_Mutation,NM_002523,exon3,c.G868A,p.E290K,SNP,SNVindel,exonic,NPTX2,NA,nonsynonymous SNV,NPTX2:NM_002523:exon3:c.G868A:p.E290K,D,D,D,T,D,T
chr7,100643502,100643502,G,A,R015_F,MUC12,Missense_Mutation,NM_001164462,exon2,c.G9658A,p.V3220I,SNP,SNVindel,exonic,MUC12,NA,nonsynonymous SNV,MUC12:NM_001164462:exon2:c.G9658A:p.V3220I,T,.,N,T,N,T
chr7,143573099,143573099,C,A,R015_F,TCAF1,Missense_Mutation,NM_001206938,exon2,c.G603T,p.K201N,SNP,SNVindel,exonic,TCAF1,NA,nonsynonymous SNV,"TCAF1:NM_001206938:exon2:c.G603T:p.K201N,TCAF1:NM_014719:exon2:c.G603T:p.K201N",T,N,D,T,N,T
chr8,145168707,145168707,G,A,R015_F,WDR97,Missense_Mutation,NM_001316309,exon17,c.G3331A,p.E1111K,SNP,SNVindel,exonic,WDR97,NA,nonsynonymous SNV,WDR97:NM_001316309:exon17:c.G3331A:p.E1111K,T,.,N,T,N,T
chr9,138439061,138439061,C,T,R015_F,OBP2A,Missense_Mutation,NM_001293193,exon2,c.C110T,p.A37V,SNP,SNVindel,exonic,OBP2A,NA,nonsynonymous SNV,"OBP2A:NM_001293193:exon2:c.C110T:p.A37V,OBP2A:NM_001293189:exon3:c.C244T:p.R82W,OBP2A:NM_014582:exon3:c.C244T:p.R82W",D,N,N,T,D,T
chr10,1279673,1279673,G,A,R015_F,ADARB2,Silent,NM_018702,exon6,c.C1476T,p.D492D,SNP,SNVindel,exonic,ADARB2,NA,synonymous SNV,ADARB2:NM_018702:exon6:c.C1476T:p.D492D,NA,NA,NA,NA,NA,NA
chr10,49658583,49658583,G,A,R015_F,ARHGAP22,Missense_Mutation,NM_001256026,exon7,c.C1319T,p.T440M,SNP,SNVindel,exonic,ARHGAP22,NA,nonsynonymous SNV,"ARHGAP22:NM_001256026:exon7:c.C1319T:p.T440M,ARHGAP22:NM_001347735:exon8:c.C1460T:p.T487M,ARHGAP22:NM_001256024:exon9:c.C1637T:p.T546M,ARHGAP22:NM_001256025:exon9:c.C1607T:p.T536M,ARHGAP22:NM_021226:exon9:c.C1589T:p.T530M,ARHGAP22:NM_001347738:exon10:c.C1607T:p.T536M",D,N,N,T,N,T
chr10,81053235,81053235,C,T,R015_F,ZMIZ1,Missense_Mutation,NM_020338,exon12,c.C1055T,p.A352V,SNP,SNVindel,exonic,ZMIZ1,NA,nonsynonymous SNV,ZMIZ1:NM_020338:exon12:c.C1055T:p.A352V,D,U,D,T,N,T
chr11,726170,726170,G,A,R015_F,EPS8L2,Missense_Mutation,NM_022772,exon18,c.G1753A,p.E585K,SNP,SNVindel,exonic,EPS8L2,NA,nonsynonymous SNV,EPS8L2:NM_022772:exon18:c.G1753A:p.E585K,T,U,N,T,N,T
chr12,54910699,54910699,C,T,R015_F,NCKAP1L,Missense_Mutation,NM_001184976,exon11,c.C868T,p.R290W,SNP,SNVindel,exonic,NCKAP1L,NA,nonsynonymous SNV,"NCKAP1L:NM_001184976:exon11:c.C868T:p.R290W,NCKAP1L:NM_005337:exon11:c.C1018T:p.R340W",D,D,D,T,D,T
chr12,110230500,110230500,C,T,R015_F,TRPV4,Missense_Mutation,NM_001177433,exon8,c.G1460A,p.R487H,SNP,SNVindel,exonic,TRPV4,NA,nonsynonymous SNV,"TRPV4:NM_001177433:exon8:c.G1460A:p.R487H,TRPV4:NM_001177428:exon9:c.G1640A:p.R547H,TRPV4:NM_147204:exon9:c.G1601A:p.R534H,TRPV4:NM_001177431:exon11:c.G1679A:p.R560H,TRPV4:NM_021625:exon11:c.G1781A:p.R594H",D,D,A,D,D,D
chr14,21863176,21863176,C,G,R015_F,CHD8,Missense_Mutation,NM_001170629,exon30,c.G5285C,p.R1762T,SNP,SNVindel,exonic,CHD8,NA,nonsynonymous SNV,"CHD8:NM_001170629:exon30:c.G5285C:p.R1762T,CHD8:NM_020920:exon30:c.G4448C:p.R1483T",D,D,D,T,D,T
chr15,99472842,99472842,G,C,R015_F,IGF1R,Missense_Mutation,NM_000875,exon14,c.G2838C,p.L946F,SNP,SNVindel,exonic,IGF1R,NA,nonsynonymous SNV,"IGF1R:NM_000875:exon14:c.G2838C:p.L946F,IGF1R:NM_001291858:exon14:c.G2835C:p.L945F",T,N,N,T,N,T
chr16,15853542,15853542,C,T,R015_F,MYH11,Missense_Mutation,NM_002474,exon12,c.G1292A,p.R431H,SNP,SNVindel,exonic,MYH11,NA,nonsynonymous SNV,"MYH11:NM_002474:exon12:c.G1292A:p.R431H,MYH11:NM_022844:exon12:c.G1292A:p.R431H,MYH11:NM_001040113:exon13:c.G1313A:p.R438H,MYH11:NM_001040114:exon13:c.G1313A:p.R438H",D,D,D,D,D,D
chr16,26147333,26147333,C,G,R015_F,HS3ST4,Missense_Mutation,NM_006040,exon2,c.C1135G,p.R379G,SNP,SNVindel,exonic,HS3ST4,NA,nonsynonymous SNV,HS3ST4:NM_006040:exon2:c.C1135G:p.R379G,D,U,D,T,D,T
chr16,70841736,70841736,A,C,R015_F,HYDIN,Missense_Mutation,NM_001270974,exon86,c.T15113G,p.I5038R,SNP,SNVindel,exonic,HYDIN,NA,nonsynonymous SNV,HYDIN:NM_001270974:exon86:c.T15113G:p.I5038R,D,U,D,T,D,T
chr16,78458921,78458921,C,T,R015_F,WWOX,Missense_Mutation,NM_001291997,exon6,c.C421T,p.R141C,SNP,SNVindel,exonic,WWOX,NA,nonsynonymous SNV,"WWOX:NM_001291997:exon6:c.C421T:p.R141C,WWOX:NM_016373:exon7:c.C760T:p.R254C",D,D,D,T,D,T
chr17,7906951,7906951,G,T,R015_F,GUCY2D,Nonsense_Mutation,NM_000180,exon2,c.G586T,p.E196X,SNP,SNVindel,exonic,GUCY2D,NA,stopgain,GUCY2D:NM_000180:exon2:c.G586T:p.E196X,.,D,A,.,.,.
chr17,61559850,61559850,C,T,R015_F,ACE,Missense_Mutation,NM_000789,exon8,c.C1142T,p.T381M,SNP,SNVindel,exonic,ACE,NA,nonsynonymous SNV,ACE:NM_000789:exon8:c.C1142T:p.T381M,D,D,D,T,D,T
chr19,8564042,8564042,G,A,R015_F,PRAM1,Missense_Mutation,NM_032152,exon2,c.C650T,p.A217V,SNP,SNVindel,exonic,PRAM1,NA,nonsynonymous SNV,PRAM1:NM_032152:exon2:c.C650T:p.A217V,T,N,N,T,N,T
chr19,35642225,35642225,G,A,R015_F,FXYD7,Missense_Mutation,NM_022006,exon3,c.G130A,p.V44I,SNP,SNVindel,exonic,FXYD7,NA,nonsynonymous SNV,FXYD7:NM_022006:exon3:c.G130A:p.V44I,T,.,N,T,N,T
chr21,34399711,34399711,C,G,R015_F,OLIG2,Missense_Mutation,NM_005806,exon2,c.C541G,p.H181D,SNP,SNVindel,exonic,OLIG2,NA,nonsynonymous SNV,OLIG2:NM_005806:exon2:c.C541G:p.H181D,D,U,D,T,D,T
chr21,43161932,43161932,G,A,R015_F,RIPK4,Missense_Mutation,NM_020639,exon8,c.C1421T,p.P474L,SNP,SNVindel,exonic,RIPK4,NA,nonsynonymous SNV,RIPK4:NM_020639:exon8:c.C1421T:p.P474L,D,D,D,T,D,D
chr1,23111560,23111560,G,A,R015_S,EPHB2,Missense_Mutation,NM_001309192,exon3,c.G802A,p.V268I,SNP,SNVindel,exonic,EPHB2,NA,nonsynonymous SNV,"EPHB2:NM_001309192:exon3:c.G802A:p.V268I,EPHB2:NM_001309193:exon3:c.G802A:p.V268I,EPHB2:NM_004442:exon3:c.G802A:p.V268I,EPHB2:NM_017449:exon3:c.G802A:p.V268I",T,N,N,T,N,T
chr1,23650118,23650118,G,A,R015_S,HNRNPR,Silent,NM_001297622,exon4,c.C189T,p.S63S,SNP,SNVindel,exonic,HNRNPR,NA,synonymous SNV,"HNRNPR:NM_001297622:exon4:c.C189T:p.S63S,HNRNPR:NM_001102397:exon5:c.C303T:p.S101S,HNRNPR:NM_001102399:exon5:c.C303T:p.S101S,HNRNPR:NM_001297620:exon5:c.C492T:p.S164S,HNRNPR:NM_001102398:exon6:c.C606T:p.S202S,HNRNPR:NM_005826:exon6:c.C606T:p.S202S",NA,NA,NA,NA,NA,NA
chr1,159409720,159409720,A,G,R015_S,OR10J1,Missense_Mutation,NM_012351,exon1,c.A139G,p.T47A,SNP,SNVindel,exonic,OR10J1,NA,nonsynonymous SNV,"OR10J1:NM_012351:exon1:c.A139G:p.T47A,OR10J1:NM_001363558:exon4:c.A139G:p.T47A,OR10J1:NM_001363557:exon5:c.A139G:p.T47A",T,N,N,T,N,T
chr1,201113024,201113024,A,C,R015_S,TMEM9,Missense_Mutation,NM_001288565,exon4,c.T323G,p.F108C,SNP,SNVindel,exonic,TMEM9,NA,nonsynonymous SNV,"TMEM9:NM_001288565:exon4:c.T323G:p.F108C,TMEM9:NM_001288564:exon5:c.T323G:p.F108C,TMEM9:NM_001288566:exon5:c.T323G:p.F108C,TMEM9:NM_001288567:exon5:c.T323G:p.F108C,TMEM9:NM_001288568:exon5:c.T323G:p.F108C,TMEM9:NM_001288569:exon5:c.T323G:p.F108C,TMEM9:NM_001288570:exon5:c.T332G:p.F111C,TMEM9:NM_001288571:exon5:c.T398G:p.F133C,TMEM9:NM_016456:exon5:c.T323G:p.F108C",D,D,D,.,D,T
chr1,210948782,210948782,G,A,R015_S,KCNH1,Missense_Mutation,NM_002238,exon10,c.C1939T,p.R647W,SNP,SNVindel,exonic,KCNH1,NA,nonsynonymous SNV,"KCNH1:NM_002238:exon10:c.C1939T:p.R647W,KCNH1:NM_172362:exon10:c.C2020T:p.R674W",D,D,D,D,D,D
chr1,247886878,247886878,C,T,R015_S,OR14A2,Silent,NM_001355292,exon5,c.G468A,p.A156A,SNP,SNVindel,exonic,OR14A2,NA,synonymous SNV,OR14A2:NM_001355292:exon5:c.G468A:p.A156A,NA,NA,NA,NA,NA,NA
chr2,26501616,26501616,G,A,R015_S,HADHB,Missense_Mutation,NM_001281512,exon7,c.G532A,p.G178S,SNP,SNVindel,exonic,HADHB,NA,nonsynonymous SNV,"HADHB:NM_001281512:exon7:c.G532A:p.G178S,HADHB:NM_000183:exon8:c.G577A:p.G193S,HADHB:NM_001281513:exon9:c.G511A:p.G171S",T,D,D,D,N,T
chr2,165996102,165996102,G,A,R015_S,SCN3A,Missense_Mutation,NM_001081676,exon14,c.C1889T,p.T630M,SNP,SNVindel,exonic,SCN3A,NA,nonsynonymous SNV,"SCN3A:NM_001081676:exon14:c.C1889T:p.T630M,SCN3A:NM_001081677:exon14:c.C1889T:p.T630M,SCN3A:NM_006922:exon14:c.C2036T:p.T679M",D,D,D,D,D,D
chr2,226447576,226447576,G,A,R015_S,NYAP2,Silent,NM_020864,exon4,c.G1443A,p.S481S,SNP,SNVindel,exonic,NYAP2,NA,synonymous SNV,"NYAP2:NM_020864:exon4:c.G1443A:p.S481S,NYAP2:NM_001371273:exon5:c.G1443A:p.S481S",NA,NA,NA,NA,NA,NA
chr3,25833085,25833085,G,A,R015_S,OXSM,Missense_Mutation,NM_001145391,exon2,c.G574A,p.V192I,SNP,SNVindel,exonic,OXSM,NA,nonsynonymous SNV,"OXSM:NM_001145391:exon2:c.G574A:p.V192I,OXSM:NM_017897:exon2:c.G574A:p.V192I",T,N,D,.,N,T
chr3,48508107,48508107,A,G,R015_S,TREX1,Missense_Mutation,NM_007248,exon2,c.A23G,p.D8G,SNP,SNVindel,exonic,TREX1,NA,nonsynonymous SNV,"TREX1:NM_007248:exon2:c.A23G:p.D8G,TREX1:NM_033629:exon2:c.A53G:p.D18G",D,U,D,D,D,D
chr3,68802048,68802048,C,T,R015_S,TAFA4,Silent,NM_001005527,exon4,c.G252A,p.A84A,SNP,SNVindel,exonic,TAFA4,NA,synonymous SNV,"TAFA4:NM_001005527:exon4:c.G252A:p.A84A,TAFA4:NM_182522:exon4:c.G252A:p.A84A",NA,NA,NA,NA,NA,NA
chr3,126261141,126261141,G,A,R015_S,CHST13,Missense_Mutation,NM_152889,exon3,c.G746A,p.R249H,SNP,SNVindel,exonic,CHST13,NA,nonsynonymous SNV,CHST13:NM_152889:exon3:c.G746A:p.R249H,T,U,D,T,N,T
chr4,107845802,107845802,A,T,R015_S,DKK2,Missense_Mutation,NM_014421,exon3,c.T429A,p.D143E,SNP,SNVindel,exonic,DKK2,NA,nonsynonymous SNV,DKK2:NM_014421:exon3:c.T429A:p.D143E,T,N,D,T,N,T
chr4,189068438,189068438,C,G,R015_S,TRIML1,Missense_Mutation,NM_178556,exon6,c.C1319G,p.A440G,SNP,SNVindel,exonic,TRIML1,NA,nonsynonymous SNV,TRIML1:NM_178556:exon6:c.C1319G:p.A440G,D,N,N,T,N,T
chr5,206013,206013,C,T,R015_S,CCDC127,Missense_Mutation,NM_145265,exon3,c.G182A,p.R61Q,SNP,SNVindel,exonic,CCDC127,NA,nonsynonymous SNV,CCDC127:NM_145265:exon3:c.G182A:p.R61Q,T,N,N,T,N,T
chr5,7817087,7817087,C,T,R015_S,ADCY2,Nonsense_Mutation,NM_020546,exon23,c.C2992T,p.R998X,SNP,SNVindel,exonic,ADCY2,NA,stopgain,ADCY2:NM_020546:exon23:c.C2992T:p.R998X,.,D,A,.,.,.
chr5,38409190,38409190,C,T,R015_S,EGFLAM,Missense_Mutation,NM_182798,exon5,c.C631T,p.R211C,SNP,SNVindel,exonic,EGFLAM,NA,nonsynonymous SNV,"EGFLAM:NM_182798:exon5:c.C631T:p.R211C,EGFLAM:NM_001205301:exon10:c.C1333T:p.R445C,EGFLAM:NM_152403:exon10:c.C1333T:p.R445C",D,D,D,T,N,T
chr5,39202474,39202474,C,T,R015_S,FYB1,Missense_Mutation,NM_001243093,exon2,c.G619A,p.A207T,SNP,SNVindel,exonic,FYB1,NA,nonsynonymous SNV,"FYB1:NM_001243093:exon2:c.G619A:p.A207T,FYB1:NM_001465:exon2:c.G589A:p.A197T,FYB1:NM_199335:exon2:c.G589A:p.A197T,FYB1:NM_001349333:exon3:c.G589A:p.A197T,FYB1:NM_018594:exon3:c.G619A:p.A207T",T,N,N,T,N,T
chr5,54721793,54721793,G,A,R015_S,PLPP1,Silent,NM_003711,exon5,c.C624T,p.A208A,SNP,SNVindel,exonic,PLPP1,NA,synonymous SNV,"PLPP1:NM_003711:exon5:c.C624T:p.A208A,PLPP1:NM_176895:exon5:c.C627T:p.A209A",NA,NA,NA,NA,NA,NA
chr5,176310836,176310836,T,C,R015_S,HK3,Missense_Mutation,NM_002115,exon15,c.A1988G,p.D663G,SNP,SNVindel,exonic,HK3,NA,nonsynonymous SNV,HK3:NM_002115:exon15:c.A1988G:p.D663G,D,D,D,D,D,D
chr6,12123560,12123560,G,C,R015_S,HIVEP1,Missense_Mutation,NM_002114,exon4,c.G3532C,p.G1178R,SNP,SNVindel,exonic,HIVEP1,NA,nonsynonymous SNV,HIVEP1:NM_002114:exon4:c.G3532C:p.G1178R,T,N,N,T,N,T
chr6,130425633,130425633,T,G,R015_S,L3MBTL3,Nonsense_Mutation,NM_001007102,exon18,c.T1724G,p.L575X,SNP,SNVindel,exonic,L3MBTL3,NA,stopgain,"L3MBTL3:NM_001007102:exon18:c.T1724G:p.L575X,L3MBTL3:NM_001346550:exon18:c.T1724G:p.L575X,L3MBTL3:NM_001346551:exon18:c.T1724G:p.L575X,L3MBTL3:NM_032438:exon19:c.T1799G:p.L600X",.,D,A,.,.,.
chr6,137477970,137477970,T,A,R015_S,IL22RA2,Missense_Mutation,NM_052962,exon4,c.A219T,p.K73N,SNP,SNVindel,exonic,IL22RA2,NA,nonsynonymous SNV,IL22RA2:NM_052962:exon4:c.A219T:p.K73N,T,.,N,T,N,T
chr7,30537363,30537363,C,T,R015_S,GGCT,Missense_Mutation,NM_001199815,exon3,c.G437A,p.C146Y,SNP,SNVindel,exonic,GGCT,NA,nonsynonymous SNV,GGCT:NM_001199815:exon3:c.G437A:p.C146Y,D,.,N,.,N,T
chr7,92732644,92732644,G,C,R015_S,SAMD9,Missense_Mutation,NM_001193307,exon2,c.C2767G,p.L923V,SNP,SNVindel,exonic,SAMD9,NA,nonsynonymous SNV,"SAMD9:NM_001193307:exon2:c.C2767G:p.L923V,SAMD9:NM_017654:exon3:c.C2767G:p.L923V",D,U,N,T,N,T
chr7,101944187,101944187,C,T,R015_S,SH2B2,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SH2B2,NA,unknown,UNKNOWN,D,D,.,T,N,T
chr7,143573099,143573099,C,A,R015_S,TCAF1,Missense_Mutation,NM_001206938,exon2,c.G603T,p.K201N,SNP,SNVindel,exonic,TCAF1,NA,nonsynonymous SNV,"TCAF1:NM_001206938:exon2:c.G603T:p.K201N,TCAF1:NM_014719:exon2:c.G603T:p.K201N",T,N,D,T,N,T
chr8,7218752,7218752,G,C,R015_S,ZNF705G,Missense_Mutation,NM_001164457,exon4,c.C19G,p.L7V,SNP,SNVindel,exonic,ZNF705G,NA,nonsynonymous SNV,ZNF705G:NM_001164457:exon4:c.C19G:p.L7V,T,.,P,T,N,T
chr8,36767016,36767016,G,A,R015_S,KCNU1,Missense_Mutation,NM_001031836,exon21,c.G2294A,p.R765Q,SNP,SNVindel,exonic,KCNU1,NA,nonsynonymous SNV,KCNU1:NM_001031836:exon21:c.G2294A:p.R765Q,D,U,N,T,N,T
chr9,916907,916907,G,A,R015_S,DMRT1,Missense_Mutation,NM_001363767,exon4,c.G493A,p.V165I,SNP,SNVindel,exonic,DMRT1,NA,nonsynonymous SNV,"DMRT1:NM_001363767:exon4:c.G493A:p.V165I,DMRT1:NM_021951:exon4:c.G967A:p.V323I",D,N,D,T,N,T
chr9,111710495,111710495,T,C,R015_S,CTNNAL1,Missense_Mutation,NM_001286974,exon15,c.A1855G,p.T619A,SNP,SNVindel,exonic,CTNNAL1,NA,nonsynonymous SNV,"CTNNAL1:NM_001286974:exon15:c.A1855G:p.T619A,CTNNAL1:NM_003798:exon15:c.A1855G:p.T619A",D,D,D,T,D,T
chr9,138439061,138439061,C,T,R015_S,OBP2A,Missense_Mutation,NM_001293193,exon2,c.C110T,p.A37V,SNP,SNVindel,exonic,OBP2A,NA,nonsynonymous SNV,"OBP2A:NM_001293193:exon2:c.C110T:p.A37V,OBP2A:NM_001293189:exon3:c.C244T:p.R82W,OBP2A:NM_014582:exon3:c.C244T:p.R82W",D,N,N,T,D,T
chr10,1279673,1279673,G,A,R015_S,ADARB2,Silent,NM_018702,exon6,c.C1476T,p.D492D,SNP,SNVindel,exonic,ADARB2,NA,synonymous SNV,ADARB2:NM_018702:exon6:c.C1476T:p.D492D,NA,NA,NA,NA,NA,NA
chr10,49658583,49658583,G,A,R015_S,ARHGAP22,Missense_Mutation,NM_001256026,exon7,c.C1319T,p.T440M,SNP,SNVindel,exonic,ARHGAP22,NA,nonsynonymous SNV,"ARHGAP22:NM_001256026:exon7:c.C1319T:p.T440M,ARHGAP22:NM_001347735:exon8:c.C1460T:p.T487M,ARHGAP22:NM_001256024:exon9:c.C1637T:p.T546M,ARHGAP22:NM_001256025:exon9:c.C1607T:p.T536M,ARHGAP22:NM_021226:exon9:c.C1589T:p.T530M,ARHGAP22:NM_001347738:exon10:c.C1607T:p.T536M",D,N,N,T,N,T
chr11,726170,726170,G,A,R015_S,EPS8L2,Missense_Mutation,NM_022772,exon18,c.G1753A,p.E585K,SNP,SNVindel,exonic,EPS8L2,NA,nonsynonymous SNV,EPS8L2:NM_022772:exon18:c.G1753A:p.E585K,T,U,N,T,N,T
chr11,61032504,61032504,T,C,R015_S,VWCE,Missense_Mutation,NM_152718,exon18,c.A2063G,p.N688S,SNP,SNVindel,exonic,VWCE,NA,nonsynonymous SNV,VWCE:NM_152718:exon18:c.A2063G:p.N688S,T,D,D,T,N,T
chr11,118342565,118342565,G,A,R015_S,KMT2A,Missense_Mutation,NM_001197104,exon3,c.G691A,p.V231I,SNP,SNVindel,exonic,KMT2A,NA,nonsynonymous SNV,"KMT2A:NM_001197104:exon3:c.G691A:p.V231I,KMT2A:NM_005933:exon3:c.G691A:p.V231I",D,D,D,D,N,T
chr11,128932179,128932179,A,G,R015_S,ARHGAP32,Missense_Mutation,NM_001142685,exon9,c.T917C,p.F306S,SNP,SNVindel,exonic,ARHGAP32,NA,nonsynonymous SNV,ARHGAP32:NM_001142685:exon9:c.T917C:p.F306S,D,.,D,T,D,T
chr12,53468434,53468434,C,A,R015_S,SPRYD3,Missense_Mutation,NM_032840,exon5,c.G506T,p.R169L,SNP,SNVindel,exonic,SPRYD3,NA,nonsynonymous SNV,SPRYD3:NM_032840:exon5:c.G506T:p.R169L,T,D,D,T,N,T
chr12,110230500,110230500,C,T,R015_S,TRPV4,Missense_Mutation,NM_001177433,exon8,c.G1460A,p.R487H,SNP,SNVindel,exonic,TRPV4,NA,nonsynonymous SNV,"TRPV4:NM_001177433:exon8:c.G1460A:p.R487H,TRPV4:NM_001177428:exon9:c.G1640A:p.R547H,TRPV4:NM_147204:exon9:c.G1601A:p.R534H,TRPV4:NM_001177431:exon11:c.G1679A:p.R560H,TRPV4:NM_021625:exon11:c.G1781A:p.R594H",D,D,A,D,D,D
chr13,50204814,50204814,T,C,R015_S,ARL11,Silent,NM_138450,exon2,c.T231C,p.Y77Y,SNP,SNVindel,exonic,ARL11,NA,synonymous SNV,ARL11:NM_138450:exon2:c.T231C:p.Y77Y,NA,NA,NA,NA,NA,NA
chr13,50299604,50299604,T,C,R015_S,KPNA3,Silent,NM_002267,exon7,c.A417G,p.L139L,SNP,SNVindel,exonic,KPNA3,NA,synonymous SNV,KPNA3:NM_002267:exon7:c.A417G:p.L139L,NA,NA,NA,NA,NA,NA
chr14,21863176,21863176,C,G,R015_S,CHD8,Missense_Mutation,NM_001170629,exon30,c.G5285C,p.R1762T,SNP,SNVindel,exonic,CHD8,NA,nonsynonymous SNV,"CHD8:NM_001170629:exon30:c.G5285C:p.R1762T,CHD8:NM_020920:exon30:c.G4448C:p.R1483T",D,D,D,T,D,T
chr15,41853418,41853418,A,C,R015_S,TYRO3,Missense_Mutation,NM_001330264,exon2,c.A83C,p.D28A,SNP,SNVindel,exonic,TYRO3,NA,nonsynonymous SNV,"TYRO3:NM_001330264:exon2:c.A83C:p.D28A,TYRO3:NM_006293:exon2:c.A218C:p.D73A",T,N,D,T,N,T
chr15,62208126,62208126,T,C,R015_S,VPS13C,Silent,NM_017684,exon59,c.A8022G,p.K2674K,SNP,SNVindel,exonic,VPS13C,NA,synonymous SNV,"VPS13C:NM_017684:exon59:c.A8022G:p.K2674K,VPS13C:NM_018080:exon59:c.A8022G:p.K2674K,VPS13C:NM_001018088:exon61:c.A8151G:p.K2717K,VPS13C:NM_020821:exon61:c.A8151G:p.K2717K",NA,NA,NA,NA,NA,NA
chr15,99472842,99472842,G,C,R015_S,IGF1R,Missense_Mutation,NM_000875,exon14,c.G2838C,p.L946F,SNP,SNVindel,exonic,IGF1R,NA,nonsynonymous SNV,"IGF1R:NM_000875:exon14:c.G2838C:p.L946F,IGF1R:NM_001291858:exon14:c.G2835C:p.L945F",T,N,N,T,N,T
chr16,15853542,15853542,C,T,R015_S,MYH11,Missense_Mutation,NM_002474,exon12,c.G1292A,p.R431H,SNP,SNVindel,exonic,MYH11,NA,nonsynonymous SNV,"MYH11:NM_002474:exon12:c.G1292A:p.R431H,MYH11:NM_022844:exon12:c.G1292A:p.R431H,MYH11:NM_001040113:exon13:c.G1313A:p.R438H,MYH11:NM_001040114:exon13:c.G1313A:p.R438H",D,D,D,D,D,D
chr16,17294473,17294473,C,T,R015_S,XYLT1,Missense_Mutation,NM_022166,exon4,c.G952A,p.V318M,SNP,SNVindel,exonic,XYLT1,NA,nonsynonymous SNV,XYLT1:NM_022166:exon4:c.G952A:p.V318M,T,D,D,T,N,T
chr16,26147333,26147333,C,G,R015_S,HS3ST4,Missense_Mutation,NM_006040,exon2,c.C1135G,p.R379G,SNP,SNVindel,exonic,HS3ST4,NA,nonsynonymous SNV,HS3ST4:NM_006040:exon2:c.C1135G:p.R379G,D,U,D,T,D,T
chr16,31501831,31501831,T,C,R015_S,SLC5A2,Missense_Mutation,NM_003041,exon14,c.T1994C,p.V665A,SNP,SNVindel,exonic,SLC5A2,NA,nonsynonymous SNV,SLC5A2:NM_003041:exon14:c.T1994C:p.V665A,T,N,N,D,D,T
chr16,70841736,70841736,A,C,R015_S,HYDIN,Missense_Mutation,NM_001270974,exon86,c.T15113G,p.I5038R,SNP,SNVindel,exonic,HYDIN,NA,nonsynonymous SNV,HYDIN:NM_001270974:exon86:c.T15113G:p.I5038R,D,U,D,T,D,T
chr16,78458921,78458921,C,T,R015_S,WWOX,Missense_Mutation,NM_001291997,exon6,c.C421T,p.R141C,SNP,SNVindel,exonic,WWOX,NA,nonsynonymous SNV,"WWOX:NM_001291997:exon6:c.C421T:p.R141C,WWOX:NM_016373:exon7:c.C760T:p.R254C",D,D,D,T,D,T
chr17,7906951,7906951,G,T,R015_S,GUCY2D,Nonsense_Mutation,NM_000180,exon2,c.G586T,p.E196X,SNP,SNVindel,exonic,GUCY2D,NA,stopgain,GUCY2D:NM_000180:exon2:c.G586T:p.E196X,.,D,A,.,.,.
chr17,39383172,39383172,C,T,R015_S,KRTAP9-2,Missense_Mutation,NM_031961,exon1,c.C266T,p.T89I,SNP,SNVindel,exonic,KRTAP9-2,NA,nonsynonymous SNV,KRTAP9-2:NM_031961:exon1:c.C266T:p.T89I,T,.,N,T,D,T
chr17,40720569,40720569,C,T,R015_S,MLX,Missense_Mutation,NM_170607,exon3,c.C323T,p.P108L,SNP,SNVindel,exonic,MLX,NA,nonsynonymous SNV,"MLX:NM_170607:exon3:c.C323T:p.P108L,MLX:NM_198204:exon3:c.C161T:p.P54L",T,D,D,T,N,T
chr17,61559850,61559850,C,T,R015_S,ACE,Missense_Mutation,NM_000789,exon8,c.C1142T,p.T381M,SNP,SNVindel,exonic,ACE,NA,nonsynonymous SNV,ACE:NM_000789:exon8:c.C1142T:p.T381M,D,D,D,T,D,T
chr17,72878689,72878689,A,T,R015_S,FADS6,Missense_Mutation,NM_178128,exon3,c.T509A,p.L170H,SNP,SNVindel,exonic,FADS6,NA,nonsynonymous SNV,FADS6:NM_178128:exon3:c.T509A:p.L170H,.,N,D,T,.,T
chr17,74470517,74470517,A,G,R015_S,RHBDF2,Missense_Mutation,NM_001005498,exon11,c.T1402C,p.S468P,SNP,SNVindel,exonic,RHBDF2,NA,nonsynonymous SNV,"RHBDF2:NM_001005498:exon11:c.T1402C:p.S468P,RHBDF2:NM_024599:exon12:c.T1489C:p.S497P",D,D,D,T,D,T
chr18,43620004,43620004,T,C,R015_S,PSTPIP2,Missense_Mutation,NM_024430,exon2,c.A43G,p.I15V,SNP,SNVindel,exonic,PSTPIP2,NA,nonsynonymous SNV,PSTPIP2:NM_024430:exon2:c.A43G:p.I15V,D,N,D,T,N,T
chr19,7083011,7083011,T,C,R015_S,ZNF557,Silent,NM_001044387,exon8,c.T549C,p.S183S,SNP,SNVindel,exonic,ZNF557,NA,synonymous SNV,"ZNF557:NM_001044387:exon8:c.T549C:p.S183S,ZNF557:NM_001044388:exon8:c.T528C:p.S176S,ZNF557:NM_024341:exon8:c.T549C:p.S183S",NA,NA,NA,NA,NA,NA
chr19,8564042,8564042,G,A,R015_S,PRAM1,Missense_Mutation,NM_032152,exon2,c.C650T,p.A217V,SNP,SNVindel,exonic,PRAM1,NA,nonsynonymous SNV,PRAM1:NM_032152:exon2:c.C650T:p.A217V,T,N,N,T,N,T
chr19,9077215,9077215,C,T,R015_S,MUC16,Missense_Mutation,NM_024690,exon3,c.G10231A,p.A3411T,SNP,SNVindel,exonic,MUC16,NA,nonsynonymous SNV,MUC16:NM_024690:exon3:c.G10231A:p.A3411T,D,.,N,T,N,T
chr20,1210589,1210589,G,C,R015_S,RAD21L1,Missense_Mutation,NM_001136566,exon3,c.G210C,p.K70N,SNP,SNVindel,exonic,RAD21L1,NA,nonsynonymous SNV,RAD21L1:NM_001136566:exon3:c.G210C:p.K70N,D,D,D,T,D,T
chr20,32664880,32664880,T,C,R015_S,RALY,Silent,NM_007367,exon7,c.T657C,p.G219G,SNP,SNVindel,exonic,RALY,NA,synonymous SNV,"RALY:NM_007367:exon7:c.T657C:p.G219G,RALY:NM_016732:exon8:c.T705C:p.G235G",NA,NA,NA,NA,NA,NA
chr20,49574964,49574964,T,C,R015_S,DPM1,Missense_Mutation,NM_001317034,exon1,c.A97G,p.T33A,SNP,SNVindel,exonic,DPM1,NA,nonsynonymous SNV,"DPM1:NM_001317034:exon1:c.A97G:p.T33A,DPM1:NM_001317035:exon1:c.A97G:p.T33A,DPM1:NM_001317036:exon1:c.A97G:p.T33A,DPM1:NM_003859:exon1:c.A97G:p.T33A",D,D,D,T,D,D
chrX,151869949,151869949,C,T,R015_S,MAGEA6,Silent,NM_005363,exon3,c.C639T,p.G213G,SNP,SNVindel,exonic,MAGEA6,NA,synonymous SNV,"MAGEA6:NM_005363:exon3:c.C639T:p.G213G,MAGEA6:NM_175868:exon3:c.C639T:p.G213G",NA,NA,NA,NA,NA,NA
chr1,27175141,27175141,G,A,R016_F,ZDHHC18,Missense_Mutation,NM_032283,exon3,c.G539A,p.R180Q,SNP,SNVindel,exonic,ZDHHC18,NA,nonsynonymous SNV,ZDHHC18:NM_032283:exon3:c.G539A:p.R180Q,D,N,N,T,N,T
chr1,43824914,43824914,C,T,R016_F,CDC20,Silent,NM_001255,exon2,c.C28T,p.L10L,SNP,SNVindel,exonic,CDC20,NA,synonymous SNV,CDC20:NM_001255:exon2:c.C28T:p.L10L,NA,NA,NA,NA,NA,NA
chr1,86965681,86965681,A,C,R016_F,CLCA1,Missense_Mutation,NM_001285,exon14,c.A2698C,p.K900Q,SNP,SNVindel,exonic,CLCA1,NA,nonsynonymous SNV,CLCA1:NM_001285:exon14:c.A2698C:p.K900Q,T,N,N,T,N,T
chr1,113266698,113266698,A,C,R016_F,TAFA3,Missense_Mutation,NM_182759,exon4,c.A329C,p.K110T,SNP,SNVindel,exonic,TAFA3,NA,nonsynonymous SNV,TAFA3:NM_182759:exon4:c.A329C:p.K110T,D,.,D,.,D,T
chr1,154744609,154744609,G,A,R016_F,KCNN3,Silent,NM_001204087,exon3,c.C1290T,p.T430T,SNP,SNVindel,exonic,KCNN3,NA,synonymous SNV,"KCNN3:NM_001204087:exon3:c.C1290T:p.T430T,KCNN3:NM_001365837:exon3:c.C351T:p.T117T,KCNN3:NM_001365838:exon3:c.C351T:p.T117T,KCNN3:NM_002249:exon3:c.C1290T:p.T430T,KCNN3:NM_170782:exon3:c.C375T:p.T125T",NA,NA,NA,NA,NA,NA
chr1,163043406,163043406,C,A,R016_F,RGS4,Silent,NM_001113380,exon4,c.C318A,p.T106T,SNP,SNVindel,exonic,RGS4,NA,synonymous SNV,"RGS4:NM_001113380:exon4:c.C318A:p.T106T,RGS4:NM_005613:exon4:c.C372A:p.T124T,RGS4:NM_001102445:exon5:c.C663A:p.T221T",NA,NA,NA,NA,NA,NA
chr1,209956708,209956708,T,A,R016_F,C1orf74,Missense_Mutation,NM_152485,exon2,c.A272T,p.N91I,SNP,SNVindel,exonic,C1orf74,NA,nonsynonymous SNV,C1orf74:NM_152485:exon2:c.A272T:p.N91I,D,D,N,T,D,T
chr2,39185186,39185186,C,T,R016_F,ARHGEF33,Missense_Mutation,NM_001145451,exon13,c.C1382T,p.A461V,SNP,SNVindel,exonic,ARHGEF33,NA,nonsynonymous SNV,"ARHGEF33:NM_001145451:exon13:c.C1382T:p.A461V,ARHGEF33:NM_001367623:exon13:c.C1382T:p.A461V",T,.,N,T,N,T
chr2,99008386,99008386,C,T,R016_F,CNGA3,Missense_Mutation,NM_001079878,exon6,c.C572T,p.S191L,SNP,SNVindel,exonic,CNGA3,NA,nonsynonymous SNV,"CNGA3:NM_001079878:exon6:c.C572T:p.S191L,CNGA3:NM_001298:exon7:c.C626T:p.S209L",T,N,N,D,N,T
chr3,4735212,4735212,C,T,R016_F,ITPR1,Silent,NM_001168272,exon32,c.C4023T,p.N1341N,SNP,SNVindel,exonic,ITPR1,NA,synonymous SNV,"ITPR1:NM_001168272:exon32:c.C4023T:p.N1341N,ITPR1:NM_002222:exon32:c.C3996T:p.N1332N,ITPR1:NM_001099952:exon33:c.C4041T:p.N1347N",NA,NA,NA,NA,NA,NA
chr3,151165668,151165668,A,G,R016_F,IGSF10,Missense_Mutation,NM_178822,exon4,c.T2101C,p.S701P,SNP,SNVindel,exonic,IGSF10,NA,nonsynonymous SNV,IGSF10:NM_178822:exon4:c.T2101C:p.S701P,T,N,N,T,N,T
chr3,178916876,178916876,G,A,R016_F,PIK3CA,Missense_Mutation,NM_006218,exon2,c.G263A,p.R88Q,SNP,SNVindel,exonic,PIK3CA,NA,nonsynonymous SNV,PIK3CA:NM_006218:exon2:c.G263A:p.R88Q,T,D,D,T,D,D
chr4,55152104,55152104,G,T,R016_F,PDGFRA,Missense_Mutation,NM_001347829,exon18,c.G2536T,p.D846Y,SNP,SNVindel,exonic,PDGFRA,NA,nonsynonymous SNV,"PDGFRA:NM_001347829:exon18:c.G2536T:p.D846Y,PDGFRA:NM_001347830:exon18:c.G2575T:p.D859Y,PDGFRA:NM_006206:exon18:c.G2536T:p.D846Y,PDGFRA:NM_001347828:exon19:c.G2611T:p.D871Y",D,U,A,D,D,D
chr4,73959940,73959940,T,G,R016_F,ANKRD17,Missense_Mutation,NM_198889,exon27,c.A4430C,p.K1477T,SNP,SNVindel,exonic,ANKRD17,NA,nonsynonymous SNV,"ANKRD17:NM_198889:exon27:c.A4430C:p.K1477T,ANKRD17:NM_001286771:exon28:c.A4844C:p.K1615T,ANKRD17:NM_015574:exon28:c.A5180C:p.K1727T,ANKRD17:NM_032217:exon28:c.A5183C:p.K1728T",D,D,D,T,D,T
chr4,89388351,89388351,A,T,R016_F,HERC5,Missense_Mutation,NM_016323,exon7,c.A1053T,p.K351N,SNP,SNVindel,exonic,HERC5,NA,nonsynonymous SNV,HERC5:NM_016323:exon7:c.A1053T:p.K351N,T,N,N,T,N,T
chr6,83889622,83889622,A,T,R016_F,PGM3,Nonsense_Mutation,NM_001199918,exon6,c.T609A,p.Y203X,SNP,SNVindel,exonic,PGM3,NA,stopgain,"PGM3:NM_001199918:exon6:c.T609A:p.Y203X,PGM3:NM_001199919:exon7:c.T852A:p.Y284X,PGM3:NM_001367286:exon7:c.T852A:p.Y284X,PGM3:NM_015599:exon7:c.T852A:p.Y284X,PGM3:NM_001199917:exon8:c.T936A:p.Y312X,PGM3:NM_001367287:exon8:c.T936A:p.Y312X",.,D,A,.,.,.
chr7,99631477,99631477,T,G,R016_F,ZKSCAN1,Missense_Mutation,NM_001287055,exon4,c.T710G,p.L237R,SNP,SNVindel,exonic,ZKSCAN1,NA,nonsynonymous SNV,"ZKSCAN1:NM_001287055:exon4:c.T710G:p.L237R,ZKSCAN1:NM_003439:exon6:c.T1349G:p.L450R,ZKSCAN1:NM_001346580:exon7:c.T1241G:p.L414R,ZKSCAN1:NM_001346581:exon7:c.T1349G:p.L450R,ZKSCAN1:NM_001287054:exon8:c.T1241G:p.L414R",T,D,N,T,N,T
chr7,100842063,100842063,C,T,R016_F,MOGAT3,Missense_Mutation,NM_001287147,exon4,c.G337A,p.A113T,SNP,SNVindel,exonic,MOGAT3,NA,nonsynonymous SNV,"MOGAT3:NM_001287147:exon4:c.G337A:p.A113T,MOGAT3:NM_178176:exon4:c.G337A:p.A113T",T,N,N,D,N,T
chr7,116381034,116381034,G,C,R016_F,MET,Silent,NM_001324402,exon4,c.G366C,p.L122L,SNP,SNVindel,exonic,MET,NA,synonymous SNV,"MET:NM_001324402:exon4:c.G366C:p.L122L,MET:NM_000245:exon5:c.G1656C:p.L552L,MET:NM_001127500:exon5:c.G1656C:p.L552L,MET:NM_001324401:exon5:c.G1656C:p.L552L",NA,NA,NA,NA,NA,NA
chr7,140453193,140453193,T,C,R016_F,BRAF,Missense_Mutation,NM_001354609,exon15,c.A1742G,p.N581S,SNP,SNVindel,exonic,BRAF,NA,nonsynonymous SNV,"BRAF:NM_001354609:exon15:c.A1742G:p.N581S,BRAF:NM_004333:exon15:c.A1742G:p.N581S",D,D,D,D,D,D
chr8,61765557,61765557,G,A,R016_F,CHD7,Nonsense_Mutation,NM_017780,exon31,c.G6273A,p.W2091X,SNP,SNVindel,exonic,CHD7,NA,stopgain,CHD7:NM_017780:exon31:c.G6273A:p.W2091X,.,D,A,.,.,.
chr8,99101910,99101910,C,G,R016_F,ERICH5,Missense_Mutation,NM_173549,exon2,c.C665G,p.S222C,SNP,SNVindel,exonic,ERICH5,NA,nonsynonymous SNV,ERICH5:NM_173549:exon2:c.C665G:p.S222C,D,N,N,T,N,T
chr10,15256440,15256440,C,T,R016_F,FAM171A1,Missense_Mutation,NM_001010924,exon8,c.G1147A,p.G383S,SNP,SNVindel,exonic,FAM171A1,NA,nonsynonymous SNV,FAM171A1:NM_001010924:exon8:c.G1147A:p.G383S,T,N,N,T,N,T
chr10,48389024,48389024,C,T,R016_F,RBP3,Silent,NM_002900,exon1,c.G1854A,p.L618L,SNP,SNVindel,exonic,RBP3,NA,synonymous SNV,RBP3:NM_002900:exon1:c.G1854A:p.L618L,NA,NA,NA,NA,NA,NA
chr11,55872800,55872800,T,C,R016_F,OR8H2,Silent,NM_001005200,exon1,c.T282C,p.F94F,SNP,SNVindel,exonic,OR8H2,NA,synonymous SNV,OR8H2:NM_001005200:exon1:c.T282C:p.F94F,NA,NA,NA,NA,NA,NA
chr12,109094947,109094947,T,C,R016_F,CORO1C,Missense_Mutation,NM_001105237,exon2,c.A307G,p.I103V,SNP,SNVindel,exonic,CORO1C,NA,nonsynonymous SNV,"CORO1C:NM_001105237:exon2:c.A307G:p.I103V,CORO1C:NM_001276471:exon2:c.A148G:p.I50V,CORO1C:NM_014325:exon2:c.A148G:p.I50V",T,N,D,T,N,T
chr14,67746194,67746194,A,G,R016_F,MPP5,Missense_Mutation,NM_001256550,exon3,c.A205G,p.M69V,SNP,SNVindel,exonic,MPP5,NA,nonsynonymous SNV,"MPP5:NM_001256550:exon3:c.A205G:p.M69V,MPP5:NM_022474:exon3:c.A307G:p.M103V",T,D,N,T,N,T
chr14,95562467,95562467,G,C,R016_F,DICER1,Missense_Mutation,NM_001195573,exon22,c.C4790G,p.T1597S,SNP,SNVindel,exonic,DICER1,NA,nonsynonymous SNV,"DICER1:NM_001195573:exon22:c.C4790G:p.T1597S,DICER1:NM_001271282:exon23:c.C4790G:p.T1597S,DICER1:NM_001291628:exon23:c.C4790G:p.T1597S,DICER1:NM_177438:exon23:c.C4790G:p.T1597S,DICER1:NM_030621:exon25:c.C4790G:p.T1597S",T,N,N,T,N,T
chr15,65684244,65684244,C,T,R016_F,IGDCC4,Missense_Mutation,NM_020962,exon12,c.G2198A,p.G733D,SNP,SNVindel,exonic,IGDCC4,NA,nonsynonymous SNV,IGDCC4:NM_020962:exon12:c.G2198A:p.G733D,T,D,D,T,N,T
chr15,72104461,72104461,C,T,R016_F,NR2E3,Silent,NM_014249,exon4,c.C516T,p.H172H,SNP,SNVindel,exonic,NR2E3,NA,synonymous SNV,"NR2E3:NM_014249:exon4:c.C516T:p.H172H,NR2E3:NM_016346:exon4:c.C516T:p.H172H",NA,NA,NA,NA,NA,NA
chr15,77771582,77771582,T,A,R016_F,HMG20A,Silent,NM_001304504,exon9,c.T969A,p.I323I,SNP,SNVindel,exonic,HMG20A,NA,synonymous SNV,"HMG20A:NM_001304504:exon9:c.T969A:p.I323I,HMG20A:NM_001304505:exon9:c.T630A:p.I210I,HMG20A:NM_018200:exon10:c.T969A:p.I323I",NA,NA,NA,NA,NA,NA
chr16,68057079,68057079,G,C,R016_F,DDX28,Silent,NM_018380,exon1,c.C27G,p.L9L,SNP,SNVindel,exonic,DDX28,NA,synonymous SNV,DDX28:NM_018380:exon1:c.C27G:p.L9L,NA,NA,NA,NA,NA,NA
chr17,2291279,2291279,G,A,R016_F,MNT,Missense_Mutation,NM_020310,exon5,c.C872T,p.A291V,SNP,SNVindel,exonic,MNT,NA,nonsynonymous SNV,MNT:NM_020310:exon5:c.C872T:p.A291V,D,D,D,D,D,D
chr18,12326016,12326016,G,A,R016_F,TUBB6,Missense_Mutation,NM_001303526,exon3,c.G1117A,p.E373K,SNP,SNVindel,exonic,TUBB6,NA,nonsynonymous SNV,"TUBB6:NM_001303526:exon3:c.G1117A:p.E373K,TUBB6:NM_001303527:exon3:c.G1012A:p.E338K,TUBB6:NM_001303529:exon4:c.G790A:p.E264K,TUBB6:NM_032525:exon4:c.G1228A:p.E410K,TUBB6:NM_001303524:exon5:c.G1228A:p.E410K,TUBB6:NM_001303528:exon5:c.G1033A:p.E345K,TUBB6:NM_001303530:exon5:c.G790A:p.E264K",D,D,D,D,N,D
chr18,77208862,77208862,C,T,R016_F,NFATC1,Silent,NM_001278673,exon3,c.C51T,p.H17H,SNP,SNVindel,exonic,NFATC1,NA,synonymous SNV,"NFATC1:NM_001278673:exon3:c.C51T:p.H17H,NFATC1:NM_172388:exon3:c.C51T:p.H17H,NFATC1:NM_001278669:exon4:c.C1467T:p.H489H,NFATC1:NM_001278670:exon4:c.C1467T:p.H489H,NFATC1:NM_001278672:exon4:c.C1428T:p.H476H,NFATC1:NM_001278675:exon4:c.C1428T:p.H476H,NFATC1:NM_006162:exon4:c.C1467T:p.H489H,NFATC1:NM_172387:exon4:c.C1428T:p.H476H,NFATC1:NM_172389:exon4:c.C1428T:p.H476H,NFATC1:NM_172390:exon4:c.C1467T:p.H489H",NA,NA,NA,NA,NA,NA
chr19,39019676,39019676,G,A,R016_F,RYR1,Missense_Mutation,NM_001042723,exon75,c.G11105A,p.R3702H,SNP,SNVindel,exonic,RYR1,NA,nonsynonymous SNV,"RYR1:NM_001042723:exon75:c.G11105A:p.R3702H,RYR1:NM_000540:exon76:c.G11120A:p.R3707H",D,U,D,D,D,D
chr19,39961121,39961121,G,T,R016_F,SUPT5H,Missense_Mutation,NM_001130825,exon17,c.G1623T,p.Q541H,SNP,SNVindel,exonic,SUPT5H,NA,nonsynonymous SNV,"SUPT5H:NM_001130825:exon17:c.G1623T:p.Q541H,SUPT5H:NM_001319991:exon17:c.G1623T:p.Q541H,SUPT5H:NM_003169:exon17:c.G1635T:p.Q545H,SUPT5H:NM_001111020:exon18:c.G1635T:p.Q545H,SUPT5H:NM_001130824:exon18:c.G1635T:p.Q545H,SUPT5H:NM_001319990:exon18:c.G1635T:p.Q545H",D,D,D,.,D,T
chr19,50962189,50962189,C,T,R016_F,MYBPC2,Missense_Mutation,NM_004533,exon22,c.C2521T,p.R841W,SNP,SNVindel,exonic,MYBPC2,NA,nonsynonymous SNV,MYBPC2:NM_004533:exon22:c.C2521T:p.R841W,T,U,D,T,D,T
chr19,54664970,54664970,C,T,R016_F,TMC4,Missense_Mutation,NM_001145303,exon12,c.G1732A,p.A578T,SNP,SNVindel,exonic,TMC4,NA,nonsynonymous SNV,"TMC4:NM_001145303:exon12:c.G1732A:p.A578T,TMC4:NM_144686:exon12:c.G1714A:p.A572T",.,D,D,.,.,T
chr20,23016562,23016562,G,A,R016_F,SSTR4,Missense_Mutation,NM_001052,exon1,c.G442A,p.V148M,SNP,SNVindel,exonic,SSTR4,NA,nonsynonymous SNV,SSTR4:NM_001052:exon1:c.G442A:p.V148M,D,U,D,T,D,D
chr20,43938283,43938283,C,T,R016_F,RBPJL,Missense_Mutation,NM_001281448,exon3,c.C208T,p.R70W,SNP,SNVindel,exonic,RBPJL,NA,nonsynonymous SNV,"RBPJL:NM_001281448:exon3:c.C208T:p.R70W,RBPJL:NM_001281449:exon3:c.C208T:p.R70W,RBPJL:NM_014276:exon3:c.C208T:p.R70W",T,N,N,D,N,T
chr20,44470677,44470677,C,T,R016_F,SNX21,Missense_Mutation,NM_152897,exon5,c.C595T,p.H199Y,SNP,SNVindel,exonic,SNX21,NA,nonsynonymous SNV,SNX21:NM_152897:exon5:c.C595T:p.H199Y,T,.,N,T,N,T
chr22,40815064,40815064,G,T,R016_F,MRTFA,Missense_Mutation,NM_001282660,exon9,c.C1378A,p.R460S,SNP,SNVindel,exonic,MRTFA,NA,nonsynonymous SNV,"MRTFA:NM_001282660:exon9:c.C1378A:p.R460S,MRTFA:NM_001318139:exon10:c.C1483A:p.R495S,MRTFA:NM_001282661:exon11:c.C1528A:p.R510S,MRTFA:NM_001282662:exon12:c.C1678A:p.R560S,MRTFA:NM_020831:exon12:c.C1678A:p.R560S",T,D,D,T,D,T
chr1,33797013,33797013,G,A,R016_S,PHC2,Missense_Mutation,NM_004427,exon4,c.C334T,p.R112W,SNP,SNVindel,exonic,PHC2,NA,nonsynonymous SNV,"PHC2:NM_004427:exon4:c.C334T:p.R112W,PHC2:NM_001330488:exon10:c.C1855T:p.R619W,PHC2:NM_198040:exon11:c.C1939T:p.R647W",T,D,D,T,D,T
chr1,43830070,43830070,G,C,R016_S,ELOVL1,Nonsense_Mutation,NM_001256401,exon6,c.C462G,p.Y154X,SNP,SNVindel,exonic,ELOVL1,NA,stopgain,"ELOVL1:NM_001256401:exon6:c.C462G:p.Y154X,ELOVL1:NM_001256402:exon6:c.C300G:p.Y100X,ELOVL1:NM_001256399:exon7:c.C543G:p.Y181X,ELOVL1:NM_022821:exon7:c.C543G:p.Y181X",.,D,A,.,.,.
chr1,45887503,45887503,A,G,R016_S,TESK2,Missense_Mutation,NM_007170,exon3,c.T238C,p.S80P,SNP,SNVindel,exonic,TESK2,NA,nonsynonymous SNV,TESK2:NM_007170:exon3:c.T238C:p.S80P,D,D,D,D,D,D
chr1,86965681,86965681,A,C,R016_S,CLCA1,Missense_Mutation,NM_001285,exon14,c.A2698C,p.K900Q,SNP,SNVindel,exonic,CLCA1,NA,nonsynonymous SNV,CLCA1:NM_001285:exon14:c.A2698C:p.K900Q,T,N,N,T,N,T
chr1,163043406,163043406,C,A,R016_S,RGS4,Silent,NM_001113380,exon4,c.C318A,p.T106T,SNP,SNVindel,exonic,RGS4,NA,synonymous SNV,"RGS4:NM_001113380:exon4:c.C318A:p.T106T,RGS4:NM_005613:exon4:c.C372A:p.T124T,RGS4:NM_001102445:exon5:c.C663A:p.T221T",NA,NA,NA,NA,NA,NA
chr1,172579304,172579304,T,C,R016_S,SUCO,Missense_Mutation,NM_001282751,exon22,c.T1981C,p.S661P,SNP,SNVindel,exonic,SUCO,NA,nonsynonymous SNV,"SUCO:NM_001282751:exon22:c.T1981C:p.S661P,SUCO:NM_001282750:exon23:c.T2557C:p.S853P,SUCO:NM_016227:exon23:c.T4123C:p.S1375P,SUCO:NM_014283:exon24:c.T3670C:p.S1224P",D,N,D,.,N,T
chr1,179989827,179989827,T,C,R016_S,CEP350,Missense_Mutation,NM_014810,exon12,c.T2918C,p.I973T,SNP,SNVindel,exonic,CEP350,NA,nonsynonymous SNV,CEP350:NM_014810:exon12:c.T2918C:p.I973T,T,N,N,T,N,T
chr1,202912986,202912986,C,T,R016_S,ADIPOR1,Silent,NM_001290553,exon6,c.G705A,p.R235R,SNP,SNVindel,exonic,ADIPOR1,NA,synonymous SNV,"ADIPOR1:NM_001290553:exon6:c.G705A:p.R235R,ADIPOR1:NM_015999:exon6:c.G705A:p.R235R,ADIPOR1:NM_001290557:exon7:c.G705A:p.R235R,ADIPOR1:NM_001290629:exon7:c.G705A:p.R235R",T,.,D,D,N,D
chr1,209956708,209956708,T,A,R016_S,C1orf74,Missense_Mutation,NM_152485,exon2,c.A272T,p.N91I,SNP,SNVindel,exonic,C1orf74,NA,nonsynonymous SNV,C1orf74:NM_152485:exon2:c.A272T:p.N91I,D,D,N,T,D,T
chr1,238053264,238053264,G,A,R016_S,ZP4,Silent,NM_021186,exon3,c.C303T,p.S101S,SNP,SNVindel,exonic,ZP4,NA,synonymous SNV,ZP4:NM_021186:exon3:c.C303T:p.S101S,NA,NA,NA,NA,NA,NA
chr1,247614696,247614696,C,T,R016_S,OR2B11,Missense_Mutation,NM_001004492,exon1,c.G589A,p.A197T,SNP,SNVindel,exonic,OR2B11,NA,nonsynonymous SNV,OR2B11:NM_001004492:exon1:c.G589A:p.A197T,T,N,N,T,N,T
chr2,1667502,1667502,A,G,R016_S,PXDN,Missense_Mutation,NM_012293,exon12,c.T1442C,p.V481A,SNP,SNVindel,exonic,PXDN,NA,nonsynonymous SNV,PXDN:NM_012293:exon12:c.T1442C:p.V481A,T,D,D,T,N,T
chr2,31484541,31484541,A,G,R016_S,EHD3,Missense_Mutation,NM_014600,exon5,c.A1042G,p.I348V,SNP,SNVindel,exonic,EHD3,NA,nonsynonymous SNV,EHD3:NM_014600:exon5:c.A1042G:p.I348V,D,D,D,T,N,T
chr2,39185186,39185186,C,T,R016_S,ARHGEF33,Missense_Mutation,NM_001145451,exon13,c.C1382T,p.A461V,SNP,SNVindel,exonic,ARHGEF33,NA,nonsynonymous SNV,"ARHGEF33:NM_001145451:exon13:c.C1382T:p.A461V,ARHGEF33:NM_001367623:exon13:c.C1382T:p.A461V",T,.,N,T,N,T
chr2,162804208,162804208,T,C,R016_S,SLC4A10,Missense_Mutation,NM_001354453,exon15,c.T1999C,p.F667L,SNP,SNVindel,exonic,SLC4A10,NA,nonsynonymous SNV,"SLC4A10:NM_001354453:exon15:c.T1999C:p.F667L,SLC4A10:NM_001354446:exon16:c.T2146C:p.F716L,SLC4A10:NM_001354449:exon16:c.T2143C:p.F715L,SLC4A10:NM_001354450:exon16:c.T2146C:p.F716L,SLC4A10:NM_001354451:exon16:c.T2143C:p.F715L,SLC4A10:NM_022058:exon16:c.T2146C:p.F716L,SLC4A10:NM_001178015:exon17:c.T2236C:p.F746L,SLC4A10:NM_001178016:exon17:c.T2179C:p.F727L,SLC4A10:NM_001354440:exon17:c.T2236C:p.F746L,SLC4A10:NM_001354443:exon17:c.T2182C:p.F728L,SLC4A10:NM_001354444:exon17:c.T2233C:p.F745L,SLC4A10:NM_001354445:exon17:c.T2179C:p.F727L,SLC4A10:NM_001354448:exon17:c.T2176C:p.F726L,SLC4A10:NM_001354455:exon17:c.T1567C:p.F523L,SLC4A10:NM_001354441:exon18:c.T2269C:p.F757L,SLC4A10:NM_001354442:exon18:c.T2269C:p.F757L,SLC4A10:NM_001354447:exon18:c.T2182C:p.F728L,SLC4A10:NM_001354460:exon18:c.T2272C:p.F758L,SLC4A10:NM_001354461:exon19:c.T2272C:p.F758L",D,D,D,T,D,D
chr2,179474021,179474021,G,C,R016_S,TTN,Missense_Mutation,NM_003319,exon101,c.C24821G,p.S8274C,SNP,SNVindel,exonic,TTN,NA,nonsynonymous SNV,"TTN:NM_003319:exon101:c.C24821G:p.S8274C,TTN:NM_133432:exon102:c.C25196G:p.S8399C,TTN:NM_133437:exon102:c.C25397G:p.S8466C,TTN:NM_133378:exon222:c.C44312G:p.S14771C,TTN:NM_001256850:exon223:c.C47093G:p.S15698C,TTN:NM_001267550:exon273:c.C52016G:p.S17339C",D,.,D,T,D,T
chr3,5229517,5229517,G,A,R016_S,EDEM1,Silent,NM_014674,exon1,c.G27A,p.G9G,SNP,SNVindel,exonic,EDEM1,NA,synonymous SNV,EDEM1:NM_014674:exon1:c.G27A:p.G9G,NA,NA,NA,NA,NA,NA
chr3,169847154,169847154,T,C,R016_S,PHC3,Missense_Mutation,NM_001308116,exon8,c.A1070G,p.N357S,SNP,SNVindel,exonic,PHC3,NA,nonsynonymous SNV,"PHC3:NM_001308116:exon8:c.A1070G:p.N357S,PHC3:NM_024947:exon8:c.A1106G:p.N369S",T,D,N,T,N,T
chr4,39255535,39255535,A,G,R016_S,WDR19,Silent,NM_001317924,exon25,c.A2406G,p.L802L,SNP,SNVindel,exonic,WDR19,NA,synonymous SNV,"WDR19:NM_001317924:exon25:c.A2406G:p.L802L,WDR19:NM_025132:exon26:c.A2886G:p.L962L",NA,NA,NA,NA,NA,NA
chr4,68925083,68925083,T,C,R016_S,TMPRSS11F,Silent,NM_207407,exon9,c.A1119G,p.L373L,SNP,SNVindel,exonic,TMPRSS11F,NA,synonymous SNV,TMPRSS11F:NM_207407:exon9:c.A1119G:p.L373L,NA,NA,NA,NA,NA,NA
chr5,65349797,65349797,A,G,R016_S,ERBIN,Missense_Mutation,NM_001006600,exon21,c.A2651G,p.Y884C,SNP,SNVindel,exonic,ERBIN,NA,nonsynonymous SNV,"ERBIN:NM_001006600:exon21:c.A2651G:p.Y884C,ERBIN:NM_001253697:exon21:c.A2651G:p.Y884C,ERBIN:NM_001253698:exon21:c.A2651G:p.Y884C,ERBIN:NM_001253699:exon21:c.A2651G:p.Y884C,ERBIN:NM_001253701:exon21:c.A2639G:p.Y880C,ERBIN:NM_018695:exon21:c.A2651G:p.Y884C",D,D,D,T,D,T
chr6,6196053,6196053,C,T,R016_S,F13A1,Missense_Mutation,NM_000129,exon10,c.G1282A,p.D428N,SNP,SNVindel,exonic,F13A1,NA,nonsynonymous SNV,F13A1:NM_000129:exon10:c.G1282A:p.D428N,D,D,D,T,D,T
chr6,11011036,11011036,G,C,R016_S,ELOVL2,Missense_Mutation,NM_017770,exon2,c.C10G,p.L4V,SNP,SNVindel,exonic,ELOVL2,NA,nonsynonymous SNV,ELOVL2:NM_017770:exon2:c.C10G:p.L4V,T,N,D,T,N,T
chr6,72960728,72960728,G,A,R016_S,RIMS1,Missense_Mutation,NM_001168407,exon9,c.G899A,p.R300Q,SNP,SNVindel,exonic,RIMS1,NA,nonsynonymous SNV,"RIMS1:NM_001168407:exon9:c.G899A:p.R300Q,RIMS1:NM_001168408:exon9:c.G899A:p.R300Q,RIMS1:NM_001168409:exon9:c.G656A:p.R219Q,RIMS1:NM_001168410:exon9:c.G854A:p.R285Q,RIMS1:NM_001350414:exon9:c.G899A:p.R300Q,RIMS1:NM_001350415:exon9:c.G899A:p.R300Q,RIMS1:NM_001350416:exon9:c.G899A:p.R300Q,RIMS1:NM_001350417:exon9:c.G899A:p.R300Q,RIMS1:NM_001350418:exon9:c.G899A:p.R300Q,RIMS1:NM_001350419:exon9:c.G899A:p.R300Q,RIMS1:NM_001350420:exon9:c.G899A:p.R300Q,RIMS1:NM_001350422:exon9:c.G899A:p.R300Q,RIMS1:NM_001350423:exon9:c.G899A:p.R300Q,RIMS1:NM_001350425:exon9:c.G899A:p.R300Q,RIMS1:NM_001350426:exon9:c.G899A:p.R300Q,RIMS1:NM_001350427:exon9:c.G899A:p.R300Q,RIMS1:NM_001350429:exon9:c.G899A:p.R300Q,RIMS1:NM_001350431:exon9:c.G899A:p.R300Q,RIMS1:NM_001350432:exon9:c.G899A:p.R300Q,RIMS1:NM_001350433:exon9:c.G899A:p.R300Q,RIMS1:NM_001350434:exon9:c.G899A:p.R300Q,RIMS1:NM_001350435:exon9:c.G899A:p.R300Q,RIMS1:NM_001350436:exon9:c.G899A:p.R300Q,RIMS1:NM_001350438:exon9:c.G899A:p.R300Q,RIMS1:NM_001350439:exon9:c.G899A:p.R300Q,RIMS1:NM_001350440:exon9:c.G899A:p.R300Q,RIMS1:NM_001350441:exon9:c.G899A:p.R300Q,RIMS1:NM_001350442:exon9:c.G899A:p.R300Q,RIMS1:NM_001350443:exon9:c.G899A:p.R300Q,RIMS1:NM_001350444:exon9:c.G899A:p.R300Q,RIMS1:NM_001350445:exon9:c.G899A:p.R300Q,RIMS1:NM_001350446:exon9:c.G899A:p.R300Q,RIMS1:NM_001350447:exon9:c.G899A:p.R300Q,RIMS1:NM_001350448:exon9:c.G899A:p.R300Q,RIMS1:NM_001350449:exon9:c.G899A:p.R300Q,RIMS1:NM_001350452:exon9:c.G899A:p.R300Q,RIMS1:NM_001350454:exon9:c.G899A:p.R300Q,RIMS1:NM_001350455:exon9:c.G899A:p.R300Q,RIMS1:NM_001350456:exon9:c.G899A:p.R300Q,RIMS1:NM_001350457:exon9:c.G899A:p.R300Q,RIMS1:NM_001350458:exon9:c.G899A:p.R300Q,RIMS1:NM_001350460:exon9:c.G899A:p.R300Q,RIMS1:NM_001350461:exon9:c.G656A:p.R219Q,RIMS1:NM_001350463:exon9:c.G656A:p.R219Q,RIMS1:NM_001350464:exon9:c.G656A:p.R219Q,RIMS1:NM_001350465:exon9:c.G656A:p.R219Q,RIMS1:NM_001350466:exon9:c.G656A:p.R219Q,RIMS1:NM_001350467:exon9:c.G656A:p.R219Q,RIMS1:NM_001350468:exon9:c.G656A:p.R219Q,RIMS1:NM_001350469:exon9:c.G656A:p.R219Q,RIMS1:NM_001350470:exon9:c.G854A:p.R285Q,RIMS1:NM_001350472:exon9:c.G854A:p.R285Q,RIMS1:NM_001350473:exon9:c.G854A:p.R285Q,RIMS1:NM_001350474:exon9:c.G854A:p.R285Q,RIMS1:NM_001350421:exon10:c.G830A:p.R277Q,RIMS1:NM_001350424:exon10:c.G830A:p.R277Q,RIMS1:NM_001350428:exon10:c.G830A:p.R277Q,RIMS1:NM_001350430:exon10:c.G830A:p.R277Q,RIMS1:NM_001350437:exon10:c.G830A:p.R277Q,RIMS1:NM_001350450:exon10:c.G830A:p.R277Q,RIMS1:NM_001350459:exon10:c.G830A:p.R277Q,RIMS1:NM_001350462:exon10:c.G830A:p.R277Q,RIMS1:NM_001350471:exon10:c.G830A:p.R277Q,RIMS1:NM_014989:exon14:c.G2477A:p.R826Q",D,N,D,T,D,T
chr6,132641795,132641795,G,T,R016_S,MOXD1,Missense_Mutation,NM_015529,exon9,c.C1338A,p.N446K,SNP,SNVindel,exonic,MOXD1,NA,nonsynonymous SNV,MOXD1:NM_015529:exon9:c.C1338A:p.N446K,T,D,D,T,N,T
chr7,12420245,12420245,T,C,R016_S,VWDE,Missense_Mutation,NM_001135924,exon5,c.A656G,p.N219S,SNP,SNVindel,exonic,VWDE,NA,nonsynonymous SNV,"VWDE:NM_001135924:exon5:c.A656G:p.N219S,VWDE:NM_001346972:exon5:c.A656G:p.N219S,VWDE:NM_001346973:exon5:c.A191G:p.N64S",T,.,N,T,N,T
chr7,80091507,80091507,A,G,R016_S,GNAT3,Missense_Mutation,NM_001102386,exon7,c.T842C,p.V281A,SNP,SNVindel,exonic,GNAT3,NA,nonsynonymous SNV,GNAT3:NM_001102386:exon7:c.T842C:p.V281A,T,U,D,D,N,T
chr7,99631477,99631477,T,G,R016_S,ZKSCAN1,Missense_Mutation,NM_001287055,exon4,c.T710G,p.L237R,SNP,SNVindel,exonic,ZKSCAN1,NA,nonsynonymous SNV,"ZKSCAN1:NM_001287055:exon4:c.T710G:p.L237R,ZKSCAN1:NM_003439:exon6:c.T1349G:p.L450R,ZKSCAN1:NM_001346580:exon7:c.T1241G:p.L414R,ZKSCAN1:NM_001346581:exon7:c.T1349G:p.L450R,ZKSCAN1:NM_001287054:exon8:c.T1241G:p.L414R",T,D,N,T,N,T
chr7,116412023,116412023,A,G,R016_S,MET,Missense_Mutation,NM_001324402,exon13,c.A1718G,p.Y573C,SNP,SNVindel,exonic,MET,NA,nonsynonymous SNV,"MET:NM_001324402:exon13:c.A1718G:p.Y573C,MET:NM_000245:exon14:c.A3008G:p.Y1003C,MET:NM_001127500:exon14:c.A3062G:p.Y1021C",D,D,D,T,D,T
chr7,116423474,116423474,T,C,R016_S,MET,Missense_Mutation,NM_001324402,exon18,c.T2459C,p.M820T,SNP,SNVindel,exonic,MET,NA,nonsynonymous SNV,"MET:NM_001324402:exon18:c.T2459C:p.M820T,MET:NM_000245:exon19:c.T3749C:p.M1250T,MET:NM_001127500:exon19:c.T3803C:p.M1268T",D,D,D,T,D,T
chr8,30706148,30706148,T,C,R016_S,TEX15,Missense_Mutation,NM_001350162,exon8,c.A1535G,p.N512S,SNP,SNVindel,exonic,TEX15,NA,nonsynonymous SNV,TEX15:NM_001350162:exon8:c.A1535G:p.N512S,T,N,N,T,D,T
chr8,99101910,99101910,C,G,R016_S,ERICH5,Missense_Mutation,NM_173549,exon2,c.C665G,p.S222C,SNP,SNVindel,exonic,ERICH5,NA,nonsynonymous SNV,ERICH5:NM_173549:exon2:c.C665G:p.S222C,D,N,N,T,N,T
chr9,37441057,37441057,C,T,R016_S,ZBTB5,Missense_Mutation,NM_014872,exon2,c.G1492A,p.G498R,SNP,SNVindel,exonic,ZBTB5,NA,nonsynonymous SNV,ZBTB5:NM_014872:exon2:c.G1492A:p.G498R,T,U,D,T,N,T
chr9,139413085,139413085,G,A,R016_S,NOTCH1,Missense_Mutation,NM_017617,exon6,c.C1057T,p.R353C,SNP,SNVindel,exonic,NOTCH1,NA,nonsynonymous SNV,NOTCH1:NM_017617:exon6:c.C1057T:p.R353C,D,D,D,D,D,D
chr10,28233750,28233750,A,G,R016_S,ARMC4,Missense_Mutation,NM_001290021,exon4,c.T103C,p.C35R,SNP,SNVindel,exonic,ARMC4,NA,nonsynonymous SNV,"ARMC4:NM_001290021:exon4:c.T103C:p.C35R,ARMC4:NM_001312689:exon6:c.T604C:p.C202R,ARMC4:NM_001290020:exon11:c.T1528C:p.C510R,ARMC4:NM_018076:exon11:c.T1528C:p.C510R",D,D,D,T,D,T
chr10,64927861,64927861,T,C,R016_S,JMJD1C,Missense_Mutation,NM_001322254,exon24,c.A6910G,p.M2304V,SNP,SNVindel,exonic,JMJD1C,NA,nonsynonymous SNV,"JMJD1C:NM_001322254:exon24:c.A6910G:p.M2304V,JMJD1C:NM_001282948:exon25:c.A7021G:p.M2341V,JMJD1C:NM_001318153:exon25:c.A6703G:p.M2235V,JMJD1C:NM_001322252:exon25:c.A7453G:p.M2485V,JMJD1C:NM_001322258:exon25:c.A6910G:p.M2304V,JMJD1C:NM_001318154:exon26:c.A7021G:p.M2341V,JMJD1C:NM_032776:exon26:c.A7567G:p.M2523V",T,D,D,T,N,T
chr11,73574294,73574294,G,A,R016_S,MRPL48,Silent,NM_001318500,exon5,c.G279A,p.L93L,SNP,SNVindel,exonic,MRPL48,NA,synonymous SNV,"MRPL48:NM_001318500:exon5:c.G279A:p.L93L,MRPL48:NM_016055:exon7:c.G552A:p.L184L,MRPL48:NM_001318498:exon8:c.G498A:p.L166L,MRPL48:NM_001318499:exon8:c.G675A:p.L225L",NA,NA,NA,NA,NA,NA
chr11,129742909,129742909,G,A,R016_S,NFRKB,Missense_Mutation,NM_006165,exon21,c.C2708T,p.T903M,SNP,SNVindel,exonic,NFRKB,NA,nonsynonymous SNV,"NFRKB:NM_006165:exon21:c.C2708T:p.T903M,NFRKB:NM_001143835:exon23:c.C2633T:p.T878M",D,N,D,.,N,T
chr12,18876403,18876403,C,T,R016_S,PLCZ1,Missense_Mutation,NM_033123,exon4,c.G209A,p.R70K,SNP,SNVindel,exonic,PLCZ1,NA,nonsynonymous SNV,PLCZ1:NM_033123:exon4:c.G209A:p.R70K,D,D,D,T,D,T
chr12,56814456,56814456,A,G,R016_S,TIMELESS,Missense_Mutation,NM_001330295,exon26,c.T3122C,p.V1041A,SNP,SNVindel,exonic,TIMELESS,NA,nonsynonymous SNV,"TIMELESS:NM_001330295:exon26:c.T3122C:p.V1041A,TIMELESS:NM_003920:exon26:c.T3125C:p.V1042A",D,D,D,T,D,T
chr13,49077014,49077014,C,T,R016_S,RCBTB2,Silent,NM_001286832,exon6,c.G141A,p.T47T,SNP,SNVindel,exonic,RCBTB2,NA,synonymous SNV,"RCBTB2:NM_001286832:exon6:c.G141A:p.T47T,RCBTB2:NM_001352428:exon7:c.G141A:p.T47T,RCBTB2:NM_001286831:exon8:c.G891A:p.T297T,RCBTB2:NM_001352429:exon8:c.G975A:p.T325T,RCBTB2:NM_001352426:exon9:c.G891A:p.T297T,RCBTB2:NM_001286830:exon10:c.G978A:p.T326T,RCBTB2:NM_001352424:exon10:c.G963A:p.T321T,RCBTB2:NM_001352425:exon10:c.G963A:p.T321T,RCBTB2:NM_001352427:exon10:c.G141A:p.T47T,RCBTB2:NM_001268:exon11:c.G963A:p.T321T",NA,NA,NA,NA,NA,NA
chr13,113845192,113845192,C,T,R016_S,PCID2,Missense_Mutation,NM_001127202,exon7,c.G461A,p.S154N,SNP,SNVindel,exonic,PCID2,NA,nonsynonymous SNV,"PCID2:NM_001127202:exon7:c.G461A:p.S154N,PCID2:NM_001127203:exon7:c.G461A:p.S154N,PCID2:NM_001258213:exon7:c.G455A:p.S152N,PCID2:NM_001320655:exon7:c.G455A:p.S152N,PCID2:NM_001320656:exon7:c.G623A:p.S208N,PCID2:NM_001320657:exon7:c.G461A:p.S154N,PCID2:NM_001320659:exon7:c.G461A:p.S154N,PCID2:NM_001320660:exon7:c.G455A:p.S152N,PCID2:NM_001353091:exon7:c.G335A:p.S112N,PCID2:NM_001353093:exon7:c.G335A:p.S112N,PCID2:NM_001353094:exon7:c.G335A:p.S112N,PCID2:NM_018386:exon7:c.G461A:p.S154N,PCID2:NM_001353092:exon8:c.G455A:p.S152N",T,D,D,.,N,T
chr14,103986504,103986504,A,G,R016_S,CKB,Missense_Mutation,NM_001362531,exon6,c.T994C,p.F332L,SNP,SNVindel,exonic,CKB,NA,nonsynonymous SNV,"CKB:NM_001362531:exon6:c.T994C:p.F332L,CKB:NM_001823:exon7:c.T922C:p.F308L",T,D,D,T,D,T
chr14,105416323,105416323,T,C,R016_S,AHNAK2,Missense_Mutation,NM_001350929,exon7,c.A5165G,p.K1722R,SNP,SNVindel,exonic,AHNAK2,NA,nonsynonymous SNV,"AHNAK2:NM_001350929:exon7:c.A5165G:p.K1722R,AHNAK2:NM_138420:exon7:c.A5465G:p.K1822R",D,.,D,T,N,T
chr15,23892860,23892860,G,C,R016_S,MAGEL2,Missense_Mutation,NM_019066,exon1,c.C30G,p.D10E,SNP,SNVindel,exonic,MAGEL2,NA,nonsynonymous SNV,MAGEL2:NM_019066:exon1:c.C30G:p.D10E,.,.,.,.,.,.
chr15,55631470,55631470,T,C,R016_S,PIGB,Missense_Mutation,NM_004855,exon7,c.T800C,p.V267A,SNP,SNVindel,exonic,PIGB,NA,nonsynonymous SNV,PIGB:NM_004855:exon7:c.T800C:p.V267A,T,N,N,T,N,T
chr15,77771582,77771582,T,A,R016_S,HMG20A,Silent,NM_001304504,exon9,c.T969A,p.I323I,SNP,SNVindel,exonic,HMG20A,NA,synonymous SNV,"HMG20A:NM_001304504:exon9:c.T969A:p.I323I,HMG20A:NM_001304505:exon9:c.T630A:p.I210I,HMG20A:NM_018200:exon10:c.T969A:p.I323I",NA,NA,NA,NA,NA,NA
chr15,101608900,101608900,G,A,R016_S,LRRK1,Silent,NM_024652,exon34,c.G5895A,p.V1965V,SNP,SNVindel,exonic,LRRK1,NA,synonymous SNV,LRRK1:NM_024652:exon34:c.G5895A:p.V1965V,NA,NA,NA,NA,NA,NA
chr16,15729647,15729647,C,T,R016_S,MARF1,Missense_Mutation,NM_001184998,exon3,c.G697A,p.A233T,SNP,SNVindel,exonic,MARF1,NA,nonsynonymous SNV,"MARF1:NM_001184998:exon3:c.G697A:p.A233T,MARF1:NM_001184999:exon3:c.G697A:p.A233T,MARF1:NM_014647:exon3:c.G697A:p.A233T",D,N,D,.,N,T
chr17,10404038,10404038,T,C,R016_S,MYH1,Missense_Mutation,NM_005963,exon28,c.A3770G,p.E1257G,SNP,SNVindel,exonic,MYH1,NA,nonsynonymous SNV,MYH1:NM_005963:exon28:c.A3770G:p.E1257G,D,U,D,D,D,D
chr17,59483153,59483153,G,A,R016_S,TBX2,Missense_Mutation,NM_005994,exon6,c.G1642A,p.A548T,SNP,SNVindel,exonic,TBX2,NA,nonsynonymous SNV,TBX2:NM_005994:exon6:c.G1642A:p.A548T,T,N,N,D,N,T
chr17,73987577,73987577,A,G,R016_S,TEN1,Silent,NM_001113324,exon3,c.A123G,p.R41R,SNP,SNVindel,exonic,TEN1,NA,synonymous SNV,TEN1:NM_001113324:exon3:c.A123G:p.R41R,NA,NA,NA,NA,NA,NA
chr18,12326016,12326016,G,A,R016_S,TUBB6,Missense_Mutation,NM_001303526,exon3,c.G1117A,p.E373K,SNP,SNVindel,exonic,TUBB6,NA,nonsynonymous SNV,"TUBB6:NM_001303526:exon3:c.G1117A:p.E373K,TUBB6:NM_001303527:exon3:c.G1012A:p.E338K,TUBB6:NM_001303529:exon4:c.G790A:p.E264K,TUBB6:NM_032525:exon4:c.G1228A:p.E410K,TUBB6:NM_001303524:exon5:c.G1228A:p.E410K,TUBB6:NM_001303528:exon5:c.G1033A:p.E345K,TUBB6:NM_001303530:exon5:c.G790A:p.E264K",D,D,D,D,N,D
chr19,1231271,1231271,G,T,R016_S,CBARP,Missense_Mutation,NM_152769,exon9,c.C983A,p.S328Y,SNP,SNVindel,exonic,CBARP,NA,nonsynonymous SNV,CBARP:NM_152769:exon9:c.C983A:p.S328Y,D,D,D,T,D,T
chr19,6364474,6364474,A,G,R016_S,CLPP,Missense_Mutation,NM_006012,exon4,c.A379G,p.T127A,SNP,SNVindel,exonic,CLPP,NA,nonsynonymous SNV,CLPP:NM_006012:exon4:c.A379G:p.T127A,T,D,D,.,D,D
chr19,33183332,33183332,C,G,R016_S,NUDT19,Missense_Mutation,NM_001105570,exon1,c.C466G,p.L156V,SNP,SNVindel,exonic,NUDT19,NA,nonsynonymous SNV,NUDT19:NM_001105570:exon1:c.C466G:p.L156V,T,U,N,T,N,T
chr19,39961121,39961121,G,T,R016_S,SUPT5H,Missense_Mutation,NM_001130825,exon17,c.G1623T,p.Q541H,SNP,SNVindel,exonic,SUPT5H,NA,nonsynonymous SNV,"SUPT5H:NM_001130825:exon17:c.G1623T:p.Q541H,SUPT5H:NM_001319991:exon17:c.G1623T:p.Q541H,SUPT5H:NM_003169:exon17:c.G1635T:p.Q545H,SUPT5H:NM_001111020:exon18:c.G1635T:p.Q545H,SUPT5H:NM_001130824:exon18:c.G1635T:p.Q545H,SUPT5H:NM_001319990:exon18:c.G1635T:p.Q545H",D,D,D,.,D,T
chr20,8717765,8717765,G,A,R016_S,PLCB1,Missense_Mutation,NM_015192,exon20,c.G2134A,p.A712T,SNP,SNVindel,exonic,PLCB1,NA,nonsynonymous SNV,"PLCB1:NM_015192:exon20:c.G2134A:p.A712T,PLCB1:NM_182734:exon20:c.G2134A:p.A712T",T,D,D,T,N,T
chr20,13098162,13098162,T,C,R016_S,SPTLC3,Silent,NM_018327,exon8,c.T942C,p.G314G,SNP,SNVindel,exonic,SPTLC3,NA,synonymous SNV,"SPTLC3:NM_018327:exon8:c.T942C:p.G314G,SPTLC3:NM_001349945:exon9:c.T942C:p.G314G",NA,NA,NA,NA,NA,NA
chr20,44470677,44470677,C,T,R016_S,SNX21,Missense_Mutation,NM_152897,exon5,c.C595T,p.H199Y,SNP,SNVindel,exonic,SNX21,NA,nonsynonymous SNV,SNX21:NM_152897:exon5:c.C595T:p.H199Y,T,.,N,T,N,T
chr21,22838952,22838952,A,G,R016_S,NCAM2,Silent,NM_001352595,exon10,c.A1254G,p.E418E,SNP,SNVindel,exonic,NCAM2,NA,synonymous SNV,"NCAM2:NM_001352595:exon10:c.A1254G:p.E418E,NCAM2:NM_001352591:exon13:c.A1680G:p.E560E,NCAM2:NM_001352593:exon13:c.A1680G:p.E560E,NCAM2:NM_001352594:exon13:c.A1680G:p.E560E,NCAM2:NM_004540:exon13:c.A1680G:p.E560E,NCAM2:NM_001352592:exon14:c.A1755G:p.E585E",NA,NA,NA,NA,NA,NA
chr22,20119535,20119535,C,T,R016_S,ZDHHC8,Missense_Mutation,NM_001185024,exon1,c.C65T,p.A22V,SNP,SNVindel,exonic,ZDHHC8,NA,nonsynonymous SNV,"ZDHHC8:NM_001185024:exon1:c.C65T:p.A22V,ZDHHC8:NM_013373:exon1:c.C65T:p.A22V",T,U,D,D,N,T
chrX,17746086,17746086,G,A,R016_S,NHS,Missense_Mutation,NM_001291868,exon6,c.G3266A,p.G1089D,SNP,SNVindel,exonic,NHS,NA,nonsynonymous SNV,"NHS:NM_001291868:exon6:c.G3266A:p.G1089D,NHS:NM_198270:exon6:c.G3797A:p.G1266D,NHS:NM_001136024:exon7:c.G3329A:p.G1110D,NHS:NM_001291867:exon7:c.G3860A:p.G1287D",D,N,N,T,N,T
chrX,129206268,129206268,C,T,R016_S,ELF4,Silent,NM_001127197,exon5,c.G465A,p.G155G,SNP,SNVindel,exonic,ELF4,NA,synonymous SNV,"ELF4:NM_001127197:exon5:c.G465A:p.G155G,ELF4:NM_001421:exon5:c.G465A:p.G155G",NA,NA,NA,NA,NA,NA
chr1,45288988,45288988,C,T,R017_F,PTCH2,Missense_Mutation,NM_001166292,exon20,c.G3184A,p.V1062M,SNP,SNVindel,exonic,PTCH2,NA,nonsynonymous SNV,"PTCH2:NM_001166292:exon20:c.G3184A:p.V1062M,PTCH2:NM_003738:exon20:c.G3184A:p.V1062M",D,N,D,D,N,D
chr1,52260179,52260179,C,T,R017_F,NRDC,Missense_Mutation,NM_001101662,exon24,c.G2740A,p.G914S,SNP,SNVindel,exonic,NRDC,NA,nonsynonymous SNV,"NRDC:NM_001101662:exon24:c.G2740A:p.G914S,NRDC:NM_001242361:exon26:c.G2548A:p.G850S,NRDC:NM_002525:exon26:c.G2944A:p.G982S",T,D,D,T,N,T
chr1,114500841,114500841,G,A,R017_F,HIPK1,Missense_Mutation,NM_181358,exon6,c.G727A,p.G243R,SNP,SNVindel,exonic,HIPK1,NA,nonsynonymous SNV,"HIPK1:NM_181358:exon6:c.G727A:p.G243R,HIPK1:NM_198269:exon7:c.G787A:p.G263R,HIPK1:NM_001369806:exon8:c.G1909A:p.G637R,HIPK1:NM_001369807:exon8:c.G1909A:p.G637R,HIPK1:NM_152696:exon8:c.G1909A:p.G637R,HIPK1:NM_198268:exon8:c.G1909A:p.G637R",T,D,D,T,D,T
chr1,237777379,237777379,C,T,R017_F,RYR2,Silent,NM_001035,exon37,c.C4951T,p.L1651L,SNP,SNVindel,exonic,RYR2,NA,synonymous SNV,RYR2:NM_001035:exon37:c.C4951T:p.L1651L,NA,NA,NA,NA,NA,NA
chr2,113764258,113764258,C,T,R017_F,IL36A,Missense_Mutation,NM_014440,exon3,c.C208T,p.L70F,SNP,SNVindel,exonic,IL36A,NA,nonsynonymous SNV,IL36A:NM_014440:exon3:c.C208T:p.L70F,T,N,N,T,N,T
chr2,189859022,189859022,C,T,R017_F,COL3A1,Silent,NM_000090,exon18,c.C1257T,p.A419A,SNP,SNVindel,exonic,COL3A1,NA,synonymous SNV,COL3A1:NM_000090:exon18:c.C1257T:p.A419A,NA,NA,NA,NA,NA,NA
chr2,211070506,211070506,A,G,R017_F,ACADL,Silent,NM_001608,exon6,c.T618C,p.N206N,SNP,SNVindel,exonic,ACADL,NA,synonymous SNV,ACADL:NM_001608:exon6:c.T618C:p.N206N,NA,NA,NA,NA,NA,NA
chr3,42676817,42676817,A,G,R017_F,NKTR,Silent,NM_001349124,exon12,c.A1122G,p.A374A,SNP,SNVindel,exonic,NKTR,NA,synonymous SNV,"NKTR:NM_001349124:exon12:c.A1122G:p.A374A,NKTR:NM_005385:exon12:c.A1122G:p.A374A,NKTR:NM_001349125:exon14:c.A363G:p.A121A,NKTR:NM_001349126:exon14:c.A18G:p.A6A",NA,NA,NA,NA,NA,NA
chr3,78734960,78734960,G,A,R017_F,ROBO1,Silent,NM_001145845,exon9,c.C1170T,p.Y390Y,SNP,SNVindel,exonic,ROBO1,NA,synonymous SNV,"ROBO1:NM_001145845:exon9:c.C1170T:p.Y390Y,ROBO1:NM_133631:exon9:c.C1170T:p.Y390Y,ROBO1:NM_002941:exon10:c.C1278T:p.Y426Y",NA,NA,NA,NA,NA,NA
chr3,128181904,128181904,C,T,R017_F,DNAJB8,Missense_Mutation,NM_153330,exon3,c.G185A,p.R62H,SNP,SNVindel,exonic,DNAJB8,NA,nonsynonymous SNV,DNAJB8:NM_153330:exon3:c.G185A:p.R62H,D,D,D,D,D,D
chr3,160395695,160395695,G,A,R017_F,ARL14,Silent,NM_025047,exon1,c.G561A,p.A187A,SNP,SNVindel,exonic,ARL14,NA,synonymous SNV,ARL14:NM_025047:exon1:c.G561A:p.A187A,NA,NA,NA,NA,NA,NA
chr3,186459456,186459456,G,A,R017_F,KNG1,Missense_Mutation,NM_001102416,exon10,c.G1271A,p.G424E,SNP,SNVindel,exonic,KNG1,NA,nonsynonymous SNV,KNG1:NM_001102416:exon10:c.G1271A:p.G424E,T,N,N,T,N,T
chr4,154625962,154625962,C,T,R017_F,TLR2,Missense_Mutation,NM_001318789,exon3,c.C1903T,p.P635S,SNP,SNVindel,exonic,TLR2,NA,nonsynonymous SNV,"TLR2:NM_001318789:exon3:c.C1903T:p.P635S,TLR2:NM_001318790:exon3:c.C1903T:p.P635S,TLR2:NM_001318791:exon3:c.C1903T:p.P635S,TLR2:NM_001318793:exon3:c.C1903T:p.P635S,TLR2:NM_001318795:exon3:c.C1903T:p.P635S,TLR2:NM_001318796:exon3:c.C1903T:p.P635S,TLR2:NM_003264:exon3:c.C1903T:p.P635S,TLR2:NM_001318787:exon4:c.C1903T:p.P635S",T,N,N,T,N,T
chr5,26902589,26902589,T,A,R017_F,CDH9,Missense_Mutation,NM_016279,exon7,c.A1249T,p.I417L,SNP,SNVindel,exonic,CDH9,NA,nonsynonymous SNV,CDH9:NM_016279:exon7:c.A1249T:p.I417L,D,D,D,T,N,T
chr5,35641735,35641735,C,T,R017_F,SPEF2,Missense_Mutation,NM_024867,exon3,c.C364T,p.R122C,SNP,SNVindel,exonic,SPEF2,NA,nonsynonymous SNV,"SPEF2:NM_024867:exon3:c.C364T:p.R122C,SPEF2:NM_144722:exon3:c.C364T:p.R122C",D,D,D,T,N,T
chr5,106763058,106763058,G,C,R017_F,EFNA5,Missense_Mutation,NM_001962,exon2,c.C278G,p.T93S,SNP,SNVindel,exonic,EFNA5,NA,nonsynonymous SNV,EFNA5:NM_001962:exon2:c.C278G:p.T93S,T,D,D,D,N,T
chr5,154396474,154396474,G,A,R017_F,KIF4B,Missense_Mutation,NM_001099293,exon1,c.G3055A,p.E1019K,SNP,SNVindel,exonic,KIF4B,NA,nonsynonymous SNV,KIF4B:NM_001099293:exon1:c.G3055A:p.E1019K,T,.,D,T,N,T
chr5,168176560,168176560,C,T,R017_F,SLIT3,Missense_Mutation,NM_001271946,exon19,c.G2054A,p.S685N,SNP,SNVindel,exonic,SLIT3,NA,nonsynonymous SNV,"SLIT3:NM_001271946:exon19:c.G2054A:p.S685N,SLIT3:NM_003062:exon19:c.G2054A:p.S685N",T,D,D,T,N,T
chr6,167571202,167571202,G,C,R017_F,GPR31,Missense_Mutation,NM_005299,exon1,c.C118G,p.L40V,SNP,SNVindel,exonic,GPR31,NA,nonsynonymous SNV,GPR31:NM_005299:exon1:c.C118G:p.L40V,T,N,N,T,N,T
chr9,35108147,35108147,G,A,R017_F,FAM214B,Missense_Mutation,NM_001317991,exon3,c.C125T,p.A42V,SNP,SNVindel,exonic,FAM214B,NA,nonsynonymous SNV,"FAM214B:NM_001317991:exon3:c.C125T:p.A42V,FAM214B:NM_025182:exon3:c.C125T:p.A42V",T,N,N,.,N,T
chr9,130710434,130710434,C,T,R017_F,FAM102A,Missense_Mutation,NM_203305,exon3,c.G106A,p.G36S,SNP,SNVindel,exonic,FAM102A,NA,nonsynonymous SNV,"FAM102A:NM_203305:exon3:c.G106A:p.G36S,FAM102A:NM_001035254:exon6:c.G532A:p.G178S",T,D,D,.,N,T
chr9,133947006,133947006,C,T,R017_F,LAMC3,Missense_Mutation,NM_006059,exon18,c.C3205T,p.L1069F,SNP,SNVindel,exonic,LAMC3,NA,nonsynonymous SNV,LAMC3:NM_006059:exon18:c.C3205T:p.L1069F,T,N,N,T,N,T
chr11,1094855,1094855,C,T,R017_F,MUC2,Silent,NM_002457,exon32,c.C5943T,p.Y1981Y,SNP,SNVindel,exonic,MUC2,NA,synonymous SNV,MUC2:NM_002457:exon32:c.C5943T:p.Y1981Y,NA,NA,NA,NA,NA,NA
chr11,63071595,63071595,G,A,R017_F,SLC22A10,Missense_Mutation,NM_001039752,exon8,c.G1301A,p.R434H,SNP,SNVindel,exonic,SLC22A10,NA,nonsynonymous SNV,SLC22A10:NM_001039752:exon8:c.G1301A:p.R434H,T,U,N,T,D,T
chr11,67223870,67223870,C,T,R017_F,CABP4,Silent,NM_001300895,exon3,c.C183T,p.T61T,SNP,SNVindel,exonic,CABP4,NA,synonymous SNV,"CABP4:NM_001300895:exon3:c.C183T:p.T61T,CABP4:NM_145200:exon3:c.C498T:p.T166T,CABP4:NM_001300896:exon4:c.C183T:p.T61T",NA,NA,NA,NA,NA,NA
chr11,102098229,102098229,C,A,R017_F,YAP1,Missense_Mutation,NM_001282098,exon6,c.C1043A,p.T348K,SNP,SNVindel,exonic,YAP1,NA,nonsynonymous SNV,"YAP1:NM_001282098:exon6:c.C1043A:p.T348K,YAP1:NM_006106:exon6:c.C1031A:p.T344K,YAP1:NM_001195044:exon7:c.C1145A:p.T382K,YAP1:NM_001282097:exon7:c.C1079A:p.T360K,YAP1:NM_001282099:exon7:c.C1091A:p.T364K,YAP1:NM_001282100:exon7:c.C1157A:p.T386K,YAP1:NM_001130145:exon8:c.C1193A:p.T398K,YAP1:NM_001195045:exon8:c.C659A:p.T220K,YAP1:NM_001282101:exon8:c.C1205A:p.T402K",D,D,D,T,D,T
chr12,49218469,49218469,C,T,R017_F,CACNB3,Missense_Mutation,NM_001206915,exon4,c.C302T,p.S101F,SNP,SNVindel,exonic,CACNB3,NA,nonsynonymous SNV,"CACNB3:NM_001206915:exon4:c.C302T:p.S101F,CACNB3:NM_000725:exon5:c.C425T:p.S142F,CACNB3:NM_001206916:exon5:c.C422T:p.S141F,CACNB3:NM_001206917:exon5:c.C386T:p.S129F",D,D,D,D,D,D
chr17,7578217,7578217,G,A,R017_F,TP53,Missense_Mutation,NM_001126115,exon2,c.C236T,p.T79I,SNP,SNVindel,exonic,TP53,NA,nonsynonymous SNV,"TP53:NM_001126115:exon2:c.C236T:p.T79I,TP53:NM_001126116:exon2:c.C236T:p.T79I,TP53:NM_001126117:exon2:c.C236T:p.T79I,TP53:NM_001276697:exon2:c.C155T:p.T52I,TP53:NM_001276698:exon2:c.C155T:p.T52I,TP53:NM_001276699:exon2:c.C155T:p.T52I,TP53:NM_001126118:exon5:c.C515T:p.T172I,TP53:NM_000546:exon6:c.C632T:p.T211I,TP53:NM_001126112:exon6:c.C632T:p.T211I,TP53:NM_001126113:exon6:c.C632T:p.T211I,TP53:NM_001126114:exon6:c.C632T:p.T211I,TP53:NM_001276695:exon6:c.C515T:p.T172I,TP53:NM_001276696:exon6:c.C515T:p.T172I,TP53:NM_001276760:exon6:c.C515T:p.T172I,TP53:NM_001276761:exon6:c.C515T:p.T172I",D,D,D,D,D,D
chr17,11672470,11672470,G,A,R017_F,DNAH9,Missense_Mutation,NM_001372,exon38,c.G7376A,p.R2459H,SNP,SNVindel,exonic,DNAH9,NA,nonsynonymous SNV,DNAH9:NM_001372:exon38:c.G7376A:p.R2459H,D,D,D,T,D,D
chr17,18167560,18167560,A,G,R017_F,MIEF2,Missense_Mutation,NM_139162,exon4,c.A847G,p.M283V,SNP,SNVindel,exonic,MIEF2,NA,nonsynonymous SNV,"MIEF2:NM_139162:exon4:c.A847G:p.M283V,MIEF2:NM_148886:exon4:c.A880G:p.M294V",T,N,D,T,N,T
chr17,51900492,51900492,C,T,R017_F,KIF2B,Missense_Mutation,NM_032559,exon1,c.C98T,p.A33V,SNP,SNVindel,exonic,KIF2B,NA,nonsynonymous SNV,KIF2B:NM_032559:exon1:c.C98T:p.A33V,T,N,N,T,N,T
chr17,77705154,77705154,G,A,R017_F,ENPP7,Missense_Mutation,NM_178543,exon1,c.G253A,p.G85S,SNP,SNVindel,exonic,ENPP7,NA,nonsynonymous SNV,ENPP7:NM_178543:exon1:c.G253A:p.G85S,D,D,D,D,D,D
chr19,3282231,3282231,C,T,R017_F,CELF5,Silent,NM_001172673,exon7,c.C858T,p.N286N,SNP,SNVindel,exonic,CELF5,NA,synonymous SNV,"CELF5:NM_001172673:exon7:c.C858T:p.N286N,CELF5:NM_021938:exon7:c.C858T:p.N286N",NA,NA,NA,NA,NA,NA
chr19,54598524,54598524,G,A,R017_F,OSCAR,Missense_Mutation,NM_133168,exon5,c.C721T,p.R241C,SNP,SNVindel,exonic,OSCAR,NA,nonsynonymous SNV,"OSCAR:NM_133168:exon5:c.C721T:p.R241C,OSCAR:NM_133169:exon6:c.C754T:p.R252C,OSCAR:NM_130771:exon7:c.C766T:p.R256C",T,.,N,T,N,T
chr19,56320357,56320357,G,A,R017_F,NLRP11,Missense_Mutation,NM_001297743,exon2,c.C1322T,p.T441M,SNP,SNVindel,exonic,NLRP11,NA,nonsynonymous SNV,"NLRP11:NM_001297743:exon2:c.C1322T:p.T441M,NLRP11:NM_145007:exon5:c.C1619T:p.T540M",.,.,N,T,.,T
chr20,61512320,61512320,G,A,R017_F,DIDO1,Missense_Mutation,NM_001193369,exon16,c.C4988T,p.P1663L,SNP,SNVindel,exonic,DIDO1,NA,nonsynonymous SNV,"DIDO1:NM_001193369:exon16:c.C4988T:p.P1663L,DIDO1:NM_033081:exon16:c.C4988T:p.P1663L",D,D,D,T,D,T
chr22,31534350,31534350,C,T,R017_F,PLA2G3,Missense_Mutation,NM_015715,exon3,c.G694A,p.V232M,SNP,SNVindel,exonic,PLA2G3,NA,nonsynonymous SNV,PLA2G3:NM_015715:exon3:c.G694A:p.V232M,T,N,D,T,N,T
chr22,43575872,43575872,C,T,R017_F,TTLL12,Nonsense_Mutation,NM_015140,exon4,c.G681A,p.W227X,SNP,SNVindel,exonic,TTLL12,NA,stopgain,TTLL12:NM_015140:exon4:c.G681A:p.W227X,.,D,A,.,.,.
chr22,46931874,46931874,G,A,R017_F,CELSR1,Silent,NM_014246,exon1,c.C1194T,p.D398D,SNP,SNVindel,exonic,CELSR1,NA,synonymous SNV,CELSR1:NM_014246:exon1:c.C1194T:p.D398D,NA,NA,NA,NA,NA,NA
chrX,18797156,18797156,A,T,R017_F,PPEF1,Missense_Mutation,NM_006240,exon10,c.A587T,p.Y196F,SNP,SNVindel,exonic,PPEF1,NA,nonsynonymous SNV,"PPEF1:NM_006240:exon10:c.A587T:p.Y196F,PPEF1:NM_152224:exon10:c.A587T:p.Y196F,PPEF1:NM_152226:exon10:c.A587T:p.Y196F",D,D,D,D,D,D
chrX,154159916,154159916,G,A,R017_F,F8,Missense_Mutation,NM_000132,exon14,c.C2149T,p.R717W,SNP,SNVindel,exonic,F8,NA,nonsynonymous SNV,F8:NM_000132:exon14:c.C2149T:p.R717W,D,D,D,D,D,D
chr1,26671625,26671625,A,G,R017_S,CRYBG2,Silent,NM_001039775,exon2,c.T1524C,p.S508S,SNP,SNVindel,exonic,CRYBG2,NA,synonymous SNV,CRYBG2:NM_001039775:exon2:c.T1524C:p.S508S,NA,NA,NA,NA,NA,NA
chr1,247150668,247150668,C,T,R017_S,ZNF695,Silent,NM_020394,exon4,c.G1149A,p.E383E,SNP,SNVindel,exonic,ZNF695,NA,synonymous SNV,ZNF695:NM_020394:exon4:c.G1149A:p.E383E,NA,NA,NA,NA,NA,NA
chr2,210880950,210880950,A,G,R017_S,RPE,Missense_Mutation,NM_006916,exon3,c.A161G,p.E54G,SNP,SNVindel,exonic,RPE,NA,nonsynonymous SNV,"RPE:NM_006916:exon3:c.A161G:p.E54G,RPE:NM_001278282:exon4:c.A161G:p.E54G,RPE:NM_001318926:exon4:c.A365G:p.E122G,RPE:NM_001318928:exon4:c.A365G:p.E122G,RPE:NM_001278283:exon5:c.A161G:p.E54G",T,.,D,.,N,T
chr3,25648815,25648815,G,T,R017_S,TOP2B,Missense_Mutation,NM_001068,exon31,c.C4130A,p.A1377D,SNP,SNVindel,exonic,TOP2B,NA,nonsynonymous SNV,"TOP2B:NM_001068:exon31:c.C4130A:p.A1377D,TOP2B:NM_001330700:exon31:c.C4145A:p.A1382D",T,N,D,T,N,T
chr3,44763362,44763362,T,C,R017_S,ZNF502,Silent,NM_001134441,exon3,c.T1053C,p.Y351Y,SNP,SNVindel,exonic,ZNF502,NA,synonymous SNV,"ZNF502:NM_001134441:exon3:c.T1053C:p.Y351Y,ZNF502:NM_001134442:exon3:c.T1053C:p.Y351Y,ZNF502:NM_001134440:exon4:c.T1053C:p.Y351Y,ZNF502:NM_033210:exon4:c.T1053C:p.Y351Y,ZNF502:NM_001282880:exon5:c.T1053C:p.Y351Y",NA,NA,NA,NA,NA,NA
chr4,155477,155477,A,T,R017_S,ZNF718,Silent,NM_001039127,exon5,c.A1002T,p.T334T,SNP,SNVindel,exonic,ZNF718,NA,synonymous SNV,"ZNF718:NM_001039127:exon5:c.A1002T:p.T334T,ZNF718:NM_001289931:exon5:c.A906T:p.T302T",NA,NA,NA,NA,NA,NA
chr4,155815,155815,T,G,R017_S,ZNF718,Missense_Mutation,NM_001039127,exon5,c.T1340G,p.V447G,SNP,SNVindel,exonic,ZNF718,NA,nonsynonymous SNV,"ZNF718:NM_001039127:exon5:c.T1340G:p.V447G,ZNF718:NM_001289931:exon5:c.T1244G:p.V415G",.,.,.,.,.,.
chr4,366825,366825,C,A,R017_S,ZNF141,Missense_Mutation,NM_001348277,exon2,c.C371A,p.T124N,SNP,SNVindel,exonic,ZNF141,NA,nonsynonymous SNV,"ZNF141:NM_001348277:exon2:c.C371A:p.T124N,ZNF141:NM_003441:exon4:c.C599A:p.T200N",D,.,N,T,N,T
chr4,366826,366826,T,A,R017_S,ZNF141,Silent,NM_001348277,exon2,c.T372A,p.T124T,SNP,SNVindel,exonic,ZNF141,NA,synonymous SNV,"ZNF141:NM_001348277:exon2:c.T372A:p.T124T,ZNF141:NM_003441:exon4:c.T600A:p.T200T",NA,NA,NA,NA,NA,NA
chr4,436405,436405,C,T,R017_S,ZNF721,Silent,NM_133474,exon3,c.G1851A,p.E617E,SNP,SNVindel,exonic,ZNF721,NA,synonymous SNV,ZNF721:NM_133474:exon3:c.G1851A:p.E617E,NA,NA,NA,NA,NA,NA
chr4,436504,436504,A,G,R017_S,ZNF721,Silent,NM_133474,exon3,c.T1752C,p.P584P,SNP,SNVindel,exonic,ZNF721,NA,synonymous SNV,ZNF721:NM_133474:exon3:c.T1752C:p.P584P,NA,NA,NA,NA,NA,NA
chr4,123855875,123855875,G,T,R017_S,SPATA5,Nonsense_Mutation,NM_001317799,exon5,c.G1126T,p.E376X,SNP,SNVindel,exonic,SPATA5,NA,stopgain,"SPATA5:NM_001317799:exon5:c.G1126T:p.E376X,SPATA5:NM_001345856:exon5:c.G1126T:p.E376X,SPATA5:NM_145207:exon5:c.G1129T:p.E377X",.,N,A,.,.,.
chr5,37396638,37396638,C,A,R017_S,WDR70,Missense_Mutation,NM_001345999,exon4,c.C392A,p.A131E,SNP,SNVindel,exonic,WDR70,NA,nonsynonymous SNV,"WDR70:NM_001345999:exon4:c.C392A:p.A131E,WDR70:NM_001345998:exon5:c.C455A:p.A152E,WDR70:NM_018034:exon5:c.C458A:p.A153E",T,N,N,T,N,T
chr6,52103544,52103544,A,G,R017_S,IL17F,Missense_Mutation,NM_052872,exon2,c.T238C,p.S80P,SNP,SNVindel,exonic,IL17F,NA,nonsynonymous SNV,IL17F:NM_052872:exon2:c.T238C:p.S80P,D,D,D,T,D,T
chr6,108985092,108985092,C,G,R017_S,FOXO3,Silent,NM_001455,exon2,c.C1056G,p.A352A,SNP,SNVindel,exonic,FOXO3,NA,synonymous SNV,"FOXO3:NM_001455:exon2:c.C1056G:p.A352A,FOXO3:NM_201559:exon3:c.C1056G:p.A352A",NA,NA,NA,NA,NA,NA
chr7,63727245,63727245,T,G,R017_S,ZNF679,Nonstop_Mutation,NM_153363,exon5,c.T1234G,p.X412E,SNP,SNVindel,exonic,ZNF679,NA,stoploss,ZNF679:NM_153363:exon5:c.T1234G:p.X412E,.,.,N,.,.,.
chr7,63981751,63981751,A,G,R017_S,ZNF680,Missense_Mutation,NM_178558,exon4,c.T1381C,p.S461P,SNP,SNVindel,exonic,ZNF680,NA,nonsynonymous SNV,ZNF680:NM_178558:exon4:c.T1381C:p.S461P,T,.,N,T,N,T
chr7,64167153,64167153,A,G,R017_S,ZNF107,Silent,NM_001282360,exon3,c.A582G,p.E194E,SNP,SNVindel,exonic,ZNF107,NA,synonymous SNV,"ZNF107:NM_001282360:exon3:c.A582G:p.E194E,ZNF107:NM_001282359:exon4:c.A678G:p.E226E,ZNF107:NM_001013746:exon5:c.A471G:p.E157E,ZNF107:NM_016220:exon7:c.A471G:p.E157E",NA,NA,NA,NA,NA,NA
chr7,64167156,64167156,G,A,R017_S,ZNF107,Silent,NM_001282360,exon3,c.G585A,p.K195K,SNP,SNVindel,exonic,ZNF107,NA,synonymous SNV,"ZNF107:NM_001282360:exon3:c.G585A:p.K195K,ZNF107:NM_001282359:exon4:c.G681A:p.K227K,ZNF107:NM_001013746:exon5:c.G474A:p.K158K,ZNF107:NM_016220:exon7:c.G474A:p.K158K",NA,NA,NA,NA,NA,NA
chr7,64167486,64167486,G,A,R017_S,ZNF107,Silent,NM_001282360,exon3,c.G915A,p.G305G,SNP,SNVindel,exonic,ZNF107,NA,synonymous SNV,"ZNF107:NM_001282360:exon3:c.G915A:p.G305G,ZNF107:NM_001282359:exon4:c.G1011A:p.G337G,ZNF107:NM_001013746:exon5:c.G804A:p.G268G,ZNF107:NM_016220:exon7:c.G804A:p.G268G",NA,NA,NA,NA,NA,NA
chr7,64168086,64168086,T,C,R017_S,ZNF107,Silent,NM_001282360,exon3,c.T1515C,p.Y505Y,SNP,SNVindel,exonic,ZNF107,NA,synonymous SNV,"ZNF107:NM_001282360:exon3:c.T1515C:p.Y505Y,ZNF107:NM_001282359:exon4:c.T1611C:p.Y537Y,ZNF107:NM_001013746:exon5:c.T1404C:p.Y468Y,ZNF107:NM_016220:exon7:c.T1404C:p.Y468Y",NA,NA,NA,NA,NA,NA
chr7,64168161,64168161,A,G,R017_S,ZNF107,Silent,NM_001282360,exon3,c.A1590G,p.E530E,SNP,SNVindel,exonic,ZNF107,NA,synonymous SNV,"ZNF107:NM_001282360:exon3:c.A1590G:p.E530E,ZNF107:NM_001282359:exon4:c.A1686G:p.E562E,ZNF107:NM_001013746:exon5:c.A1479G:p.E493E,ZNF107:NM_016220:exon7:c.A1479G:p.E493E",NA,NA,NA,NA,NA,NA
chr7,64439100,64439100,A,G,R017_S,ERV3-1-ZNF117,Silent,NM_001348050,exon4,c.T849C,p.G283G,SNP,SNVindel,exonic,ERV3-1-ZNF117;ZNF117,NA,synonymous SNV,"ERV3-1-ZNF117:NM_001348050:exon4:c.T849C:p.G283G,ZNF117:NM_015852:exon4:c.T849C:p.G283G",NA,NA,NA,NA,NA,NA
chr7,64864643,64864643,A,G,R017_S,ZNF92,Missense_Mutation,NM_001287534,exon2,c.A1388G,p.Y463C,SNP,SNVindel,exonic,ZNF92,NA,nonsynonymous SNV,"ZNF92:NM_001287534:exon2:c.A1388G:p.Y463C,ZNF92:NM_001287532:exon3:c.A1520G:p.Y507C,ZNF92:NM_007139:exon3:c.A1409G:p.Y470C,ZNF92:NM_152626:exon4:c.A1616G:p.Y539C,ZNF92:NM_001287533:exon5:c.A1388G:p.Y463C",T,.,N,T,N,T
chr7,99091155,99091155,T,C,R017_S,ZNF394,Silent,NM_032164,exon3,c.A1683G,p.L561L,SNP,SNVindel,exonic,ZNF394,NA,synonymous SNV,ZNF394:NM_032164:exon3:c.A1683G:p.L561L,NA,NA,NA,NA,NA,NA
chr10,27311490,27311490,A,C,R017_S,ANKRD26,Missense_Mutation,NM_001256053,exon29,c.T4209G,p.H1403Q,SNP,SNVindel,exonic,ANKRD26,NA,nonsynonymous SNV,"ANKRD26:NM_001256053:exon29:c.T4209G:p.H1403Q,ANKRD26:NM_014915:exon29:c.T4212G:p.H1404Q",T,U,N,T,D,T
chr11,1093364,1093364,C,G,R017_S,MUC2,Missense_Mutation,NM_002457,exon31,c.C5183G,p.T1728S,SNP,SNVindel,exonic,MUC2,NA,nonsynonymous SNV,MUC2:NM_002457:exon31:c.C5183G:p.T1728S,NA,NA,NA,NA,NA,NA
chr11,3380585,3380585,C,T,R017_S,ZNF195,Silent,NM_007152,exon4,c.G1437A,p.K479K,SNP,SNVindel,exonic,ZNF195,NA,synonymous SNV,"ZNF195:NM_007152:exon4:c.G1437A:p.K479K,ZNF195:NM_001130519:exon5:c.G1584A:p.K528K,ZNF195:NM_001242843:exon5:c.G1449A:p.K483K,ZNF195:NM_001256825:exon5:c.G1449A:p.K483K,ZNF195:NM_001130520:exon6:c.G1653A:p.K551K,ZNF195:NM_001242841:exon6:c.G1596A:p.K532K,ZNF195:NM_001242842:exon6:c.G1518A:p.K506K,ZNF195:NM_001256824:exon6:c.G1542A:p.K514K",NA,NA,NA,NA,NA,NA
chr14,55615329,55615329,C,T,R017_S,DLGAP5,Missense_Mutation,NM_001146015,exon19,c.G2492A,p.R831Q,SNP,SNVindel,exonic,DLGAP5,NA,nonsynonymous SNV,DLGAP5:NM_001146015:exon19:c.G2492A:p.R831Q,D,U,N,T,N,T
chr15,45364534,45364534,A,C,R017_S,SORD,Missense_Mutation,NM_003104,exon8,c.A806C,p.N269T,SNP,SNVindel,exonic,SORD,NA,nonsynonymous SNV,SORD:NM_003104:exon8:c.A806C:p.N269T,T,N,P,T,N,T
chr16,1306347,1306347,G,C,R017_S,TPSD1,Silent,NM_012217,exon1,c.G66C,p.P22P,SNP,SNVindel,exonic,TPSD1,NA,synonymous SNV,TPSD1:NM_012217:exon1:c.G66C:p.P22P,NA,NA,NA,NA,NA,NA
chr16,15122780,15122780,G,C,R017_S,PDXDC1,Missense_Mutation,NM_001285444,exon14,c.G1169C,p.G390A,SNP,SNVindel,exonic,PDXDC1,NA,nonsynonymous SNV,"PDXDC1:NM_001285444:exon14:c.G1169C:p.G390A,PDXDC1:NM_001285445:exon14:c.G1166C:p.G389A,PDXDC1:NM_001285448:exon14:c.G977C:p.G326A,PDXDC1:NM_001285450:exon14:c.G1181C:p.G394A,PDXDC1:NM_001324021:exon14:c.G1169C:p.G390A,PDXDC1:NM_001285447:exon15:c.G1205C:p.G402A,PDXDC1:NM_001285449:exon15:c.G1250C:p.G417A,PDXDC1:NM_001324019:exon15:c.G1247C:p.G416A,PDXDC1:NM_001324020:exon15:c.G1247C:p.G416A,PDXDC1:NM_015027:exon15:c.G1250C:p.G417A",T,N,N,T,N,T
chr16,18870977,18870977,A,G,R017_S,SMG1,Missense_Mutation,NM_015092,exon27,c.T3854C,p.L1285P,SNP,SNVindel,exonic,SMG1,NA,nonsynonymous SNV,SMG1:NM_015092:exon27:c.T3854C:p.L1285P,D,D,D,T,D,T
chr19,19905508,19905508,C,G,R017_S,ZNF506,Silent,NM_001145404,exon3,c.G1092C,p.P364P,SNP,SNVindel,exonic,ZNF506,NA,synonymous SNV,"ZNF506:NM_001145404:exon3:c.G1092C:p.P364P,ZNF506:NM_001099269:exon4:c.G1188C:p.P396P",NA,NA,NA,NA,NA,NA
chr19,19905748,19905748,C,T,R017_S,ZNF506,Silent,NM_001145404,exon3,c.G852A,p.E284E,SNP,SNVindel,exonic,ZNF506,NA,synonymous SNV,"ZNF506:NM_001145404:exon3:c.G852A:p.E284E,ZNF506:NM_001099269:exon4:c.G948A:p.E316E",NA,NA,NA,NA,NA,NA
chr19,19905983,19905983,T,A,R017_S,ZNF506,Missense_Mutation,NM_001145404,exon3,c.A617T,p.Y206F,SNP,SNVindel,exonic,ZNF506,NA,nonsynonymous SNV,"ZNF506:NM_001145404:exon3:c.A617T:p.Y206F,ZNF506:NM_001099269:exon4:c.A713T:p.Y238F",T,.,D,T,N,T
chr19,20002653,20002653,T,C,R017_S,ZNF253,Silent,NM_001331134,exon2,c.T369C,p.P123P,SNP,SNVindel,exonic,ZNF253,NA,synonymous SNV,"ZNF253:NM_001331134:exon2:c.T369C:p.P123P,ZNF253:NM_001331133:exon3:c.T405C:p.P135P,ZNF253:NM_021047:exon4:c.T597C:p.P199P",NA,NA,NA,NA,NA,NA
chr19,20002658,20002658,G,A,R017_S,ZNF253,Missense_Mutation,NM_001331134,exon2,c.G374A,p.R125K,SNP,SNVindel,exonic,ZNF253,NA,nonsynonymous SNV,"ZNF253:NM_001331134:exon2:c.G374A:p.R125K,ZNF253:NM_001331133:exon3:c.G410A:p.R137K,ZNF253:NM_021047:exon4:c.G602A:p.R201K",.,.,N,T,.,T
chr19,20117522,20117522,T,G,R017_S,ZNF682,Silent,NM_001077349,exon4,c.A693C,p.G231G,SNP,SNVindel,exonic,ZNF682,NA,synonymous SNV,"ZNF682:NM_001077349:exon4:c.A693C:p.G231G,ZNF682:NM_033196:exon4:c.A789C:p.G263G",NA,NA,NA,NA,NA,NA
chr19,20808090,20808090,C,T,R017_S,ZNF626,Missense_Mutation,NM_001076675,exon4,c.G593A,p.G198E,SNP,SNVindel,exonic,ZNF626,NA,nonsynonymous SNV,ZNF626:NM_001076675:exon4:c.G593A:p.G198E,.,.,N,T,.,T
chr19,21476433,21476433,G,C,R017_S,ZNF708,Missense_Mutation,NM_001297561,exon3,c.C1143G,p.D381E,SNP,SNVindel,exonic,ZNF708,NA,nonsynonymous SNV,"ZNF708:NM_001297561:exon3:c.C1143G:p.D381E,ZNF708:NM_001297560:exon4:c.C1143G:p.D381E,ZNF708:NM_021269:exon4:c.C1335G:p.D445E",T,.,N,T,N,T
chr19,21477189,21477189,T,C,R017_S,ZNF708,Silent,NM_001297561,exon3,c.A387G,p.E129E,SNP,SNVindel,exonic,ZNF708,NA,synonymous SNV,"ZNF708:NM_001297561:exon3:c.A387G:p.E129E,ZNF708:NM_001297560:exon4:c.A387G:p.E129E,ZNF708:NM_021269:exon4:c.A579G:p.E193E",NA,NA,NA,NA,NA,NA
chr19,21720133,21720133,T,A,R017_S,ZNF429,Missense_Mutation,NM_001346916,exon3,c.T1086A,p.N362K,SNP,SNVindel,exonic,ZNF429,NA,nonsynonymous SNV,"ZNF429:NM_001346916:exon3:c.T1086A:p.N362K,ZNF429:NM_001001415:exon4:c.T1278A:p.N426K,ZNF429:NM_001346912:exon4:c.T1272A:p.N424K,ZNF429:NM_001346914:exon4:c.T1182A:p.N394K,ZNF429:NM_001346913:exon5:c.T1182A:p.N394K,ZNF429:NM_001346915:exon5:c.T1182A:p.N394K",T,.,N,T,N,T
chr19,22497090,22497090,A,C,R017_S,ZNF729,Missense_Mutation,NM_001242680,exon4,c.A871C,p.T291P,SNP,SNVindel,exonic,ZNF729,NA,nonsynonymous SNV,ZNF729:NM_001242680:exon4:c.A871C:p.T291P,.,.,.,T,.,T
chr19,23543296,23543296,T,C,R017_S,ZNF91,Missense_Mutation,NM_001300951,exon3,c.A2389G,p.K797E,SNP,SNVindel,exonic,ZNF91,NA,nonsynonymous SNV,"ZNF91:NM_001300951:exon3:c.A2389G:p.K797E,ZNF91:NM_003430:exon4:c.A2485G:p.K829E",T,.,N,T,N,T
chr19,23927502,23927502,G,A,R017_S,ZNF681,Missense_Mutation,NM_138286,exon4,c.C850T,p.R284C,SNP,SNVindel,exonic,ZNF681,NA,nonsynonymous SNV,ZNF681:NM_138286:exon4:c.C850T:p.R284C,T,.,N,T,N,T
chr19,23927512,23927512,A,T,R017_S,ZNF681,Missense_Mutation,NM_138286,exon4,c.T840A,p.N280K,SNP,SNVindel,exonic,ZNF681,NA,nonsynonymous SNV,ZNF681:NM_138286:exon4:c.T840A:p.N280K,T,.,N,T,N,T
chr19,36304123,36304123,T,C,R017_S,PRODH2,Missense_Mutation,NM_021232,exon1,c.A61G,p.N21D,SNP,SNVindel,exonic,PRODH2,NA,nonsynonymous SNV,PRODH2:NM_021232:exon1:c.A61G:p.N21D,D,.,N,T,N,T
chr19,52569923,52569923,A,T,R017_S,ZNF841,Missense_Mutation,NM_001369830,exon3,c.T864A,p.N288K,SNP,SNVindel,exonic,ZNF841,NA,nonsynonymous SNV,"ZNF841:NM_001369830:exon3:c.T864A:p.N288K,ZNF841:NM_001321349:exon5:c.T864A:p.N288K,ZNF841:NM_001369826:exon5:c.T1212A:p.N404K,ZNF841:NM_001352298:exon6:c.T1212A:p.N404K,ZNF841:NM_001352299:exon6:c.T1212A:p.N404K,ZNF841:NM_001369825:exon6:c.T1215A:p.N405K,ZNF841:NM_001369828:exon6:c.T1212A:p.N404K,ZNF841:NM_001136499:exon7:c.T1212A:p.N404K,ZNF841:NM_001369827:exon7:c.T1212A:p.N404K,ZNF841:NM_001369829:exon7:c.T1212A:p.N404K",T,.,N,T,D,T
chr19,52919581,52919581,T,C,R017_S,ZNF528,Silent,NM_032423,exon7,c.T1476C,p.P492P,SNP,SNVindel,exonic,ZNF528,NA,synonymous SNV,ZNF528:NM_032423:exon7:c.T1476C:p.P492P,NA,NA,NA,NA,NA,NA
chr19,53344317,53344317,A,G,R017_S,ZNF468,Silent,NM_001008801,exon4,c.T1230C,p.P410P,SNP,SNVindel,exonic,ZNF468,NA,synonymous SNV,ZNF468:NM_001008801:exon4:c.T1230C:p.P410P,NA,NA,NA,NA,NA,NA
chr22,36055619,36055619,C,G,R017_S,APOL6,Silent,NM_030641,exon3,c.C1008G,p.V336V,SNP,SNVindel,exonic,APOL6,NA,synonymous SNV,APOL6:NM_030641:exon3:c.C1008G:p.V336V,NA,NA,NA,NA,NA,NA
chr22,36055627,36055627,A,G,R017_S,APOL6,Missense_Mutation,NM_030641,exon3,c.A1016G,p.Y339C,SNP,SNVindel,exonic,APOL6,NA,nonsynonymous SNV,APOL6:NM_030641:exon3:c.A1016G:p.Y339C,D,.,N,T,N,T
chrX,47308035,47308035,T,A,R017_S,ZNF41,Silent,NM_001324139,exon4,c.A876T,p.T292T,SNP,SNVindel,exonic,ZNF41,NA,synonymous SNV,"ZNF41:NM_001324139:exon4:c.A876T:p.T292T,ZNF41:NM_001324141:exon4:c.A876T:p.T292T,ZNF41:NM_001324143:exon4:c.A876T:p.T292T,ZNF41:NM_001324145:exon4:c.A876T:p.T292T,ZNF41:NM_001324149:exon4:c.A876T:p.T292T,ZNF41:NM_001324154:exon4:c.A1236T:p.T412T,ZNF41:NM_001324155:exon4:c.A1260T:p.T420T,ZNF41:NM_001324156:exon4:c.A1032T:p.T344T,ZNF41:NM_001324157:exon4:c.A1026T:p.T342T,ZNF41:NM_001324140:exon5:c.A1134T:p.T378T,ZNF41:NM_001324142:exon5:c.A1140T:p.T380T,ZNF41:NM_001324144:exon5:c.A1134T:p.T378T,ZNF41:NM_001324147:exon5:c.A1134T:p.T378T,ZNF41:NM_001324148:exon5:c.A1140T:p.T380T,ZNF41:NM_001324151:exon5:c.A1164T:p.T388T,ZNF41:NM_001324152:exon5:c.A876T:p.T292T,ZNF41:NM_001324153:exon5:c.A1164T:p.T388T,ZNF41:NM_007130:exon5:c.A1134T:p.T378T,ZNF41:NM_153380:exon5:c.A1134T:p.T378T,ZNF41:NM_001324150:exon6:c.A1134T:p.T378T",NA,NA,NA,NA,NA,NA
chr1,40150150,40150150,G,A,R018_F,HPCAL4,Silent,NM_001282397,exon2,c.C126T,p.I42I,SNP,SNVindel,exonic,HPCAL4,NA,synonymous SNV,"HPCAL4:NM_001282397:exon2:c.C126T:p.I42I,HPCAL4:NM_016257:exon2:c.C126T:p.I42I,HPCAL4:NM_001282396:exon3:c.C126T:p.I42I",NA,NA,NA,NA,NA,NA
chr1,79383365,79383365,T,C,R018_F,ADGRL4,Missense_Mutation,NM_022159,exon12,c.A1703G,p.N568S,SNP,SNVindel,exonic,ADGRL4,NA,nonsynonymous SNV,ADGRL4:NM_022159:exon12:c.A1703G:p.N568S,D,D,D,T,D,T
chr1,241959665,241959665,G,A,R018_F,WDR64,Missense_Mutation,NM_001367482,exon27,c.G3185A,p.R1062H,SNP,SNVindel,exonic,WDR64,NA,nonsynonymous SNV,WDR64:NM_001367482:exon27:c.G3185A:p.R1062H,T,N,N,T,N,T
chr2,10186413,10186413,G,T,R018_F,KLF11,Missense_Mutation,NM_001177716,exon2,c.G128T,p.R43I,SNP,SNVindel,exonic,KLF11,NA,nonsynonymous SNV,"KLF11:NM_001177716:exon2:c.G128T:p.R43I,KLF11:NM_001177718:exon2:c.G128T:p.R43I,KLF11:NM_003597:exon2:c.G179T:p.R60I",D,D,D,T,D,T
chr2,20240757,20240757,T,A,R018_F,LAPTM4A,Missense_Mutation,NM_014713,exon2,c.A127T,p.M43L,SNP,SNVindel,exonic,LAPTM4A,NA,nonsynonymous SNV,LAPTM4A:NM_014713:exon2:c.A127T:p.M43L,T,D,D,T,N,T
chr2,95947041,95947041,C,T,R018_F,PROM2,Silent,NM_001165977,exon12,c.C1479T,p.F493F,SNP,SNVindel,exonic,PROM2,NA,synonymous SNV,"PROM2:NM_001165977:exon12:c.C1479T:p.F493F,PROM2:NM_001165978:exon12:c.C1479T:p.F493F,PROM2:NM_001321070:exon12:c.C441T:p.F147F,PROM2:NM_144707:exon12:c.C1479T:p.F493F",NA,NA,NA,NA,NA,NA
chr2,116534868,116534868,C,A,R018_F,DPP10,Missense_Mutation,NM_001321913,exon12,c.C544A,p.Q182K,SNP,SNVindel,exonic,DPP10,NA,nonsynonymous SNV,"DPP10:NM_001321913:exon12:c.C544A:p.Q182K,DPP10:NM_001321909:exon13:c.C1189A:p.Q397K,DPP10:NM_001004360:exon14:c.C1285A:p.Q429K,DPP10:NM_001178034:exon14:c.C1318A:p.Q440K,DPP10:NM_001178037:exon14:c.C1294A:p.Q432K,DPP10:NM_001321908:exon14:c.C1216A:p.Q406K,DPP10:NM_001321911:exon14:c.C1156A:p.Q386K,DPP10:NM_001321914:exon14:c.C544A:p.Q182K,DPP10:NM_001178036:exon15:c.C1156A:p.Q386K,DPP10:NM_001321905:exon15:c.C1357A:p.Q453K,DPP10:NM_001321906:exon15:c.C1285A:p.Q429K,DPP10:NM_001321910:exon15:c.C1156A:p.Q386K,DPP10:NM_001321912:exon15:c.C1156A:p.Q386K",T,N,D,T,N,T
chr2,166179852,166179852,C,T,R018_F,SCN2A,Missense_Mutation,NM_001040142,exon12,c.C1858T,p.R620W,SNP,SNVindel,exonic,SCN2A,NA,nonsynonymous SNV,"SCN2A:NM_001040142:exon12:c.C1858T:p.R620W,SCN2A:NM_001371246:exon12:c.C1858T:p.R620W,SCN2A:NM_001371247:exon12:c.C1858T:p.R620W,SCN2A:NM_021007:exon12:c.C1858T:p.R620W,SCN2A:NM_001040143:exon13:c.C1858T:p.R620W",D,D,D,D,D,D
chr2,220329174,220329174,G,A,R018_F,SPEG,Missense_Mutation,NM_001173476,exon4,c.G178A,p.V60M,SNP,SNVindel,exonic,SPEG,NA,nonsynonymous SNV,"SPEG:NM_001173476:exon4:c.G178A:p.V60M,SPEG:NM_005876:exon9:c.G2725A:p.V909M",D,N,D,T,N,T
chr2,228856023,228856023,T,A,R018_F,SPHKAP,Nonsense_Mutation,NM_030623,exon9,c.A4654T,p.K1552X,SNP,SNVindel,exonic,SPHKAP,NA,stopgain,"SPHKAP:NM_030623:exon9:c.A4654T:p.K1552X,SPHKAP:NM_001142644:exon10:c.A4741T:p.K1581X",.,N,A,.,.,.
chr3,3139660,3139660,A,C,R018_F,IL5RA,Silent,NM_001243099,exon7,c.T603G,p.T201T,SNP,SNVindel,exonic,IL5RA,NA,synonymous SNV,"IL5RA:NM_001243099:exon7:c.T603G:p.T201T,IL5RA:NM_175726:exon7:c.T603G:p.T201T,IL5RA:NM_175727:exon7:c.T603G:p.T201T,IL5RA:NM_175728:exon7:c.T603G:p.T201T,IL5RA:NM_000564:exon8:c.T603G:p.T201T,IL5RA:NM_175724:exon8:c.T603G:p.T201T,IL5RA:NM_175725:exon8:c.T603G:p.T201T",NA,NA,NA,NA,NA,NA
chr3,68466552,68466552,C,T,R018_F,TAFA1,Missense_Mutation,NM_001252216,exon3,c.C241T,p.R81W,SNP,SNVindel,exonic,TAFA1,NA,nonsynonymous SNV,"TAFA1:NM_001252216:exon3:c.C241T:p.R81W,TAFA1:NM_213609:exon3:c.C241T:p.R81W",D,D,N,.,D,T
chr3,148868422,148868422,G,A,R018_F,HPS3,Silent,NM_001308258,exon5,c.G705A,p.A235A,SNP,SNVindel,exonic,HPS3,NA,synonymous SNV,"HPS3:NM_001308258:exon5:c.G705A:p.A235A,HPS3:NM_032383:exon6:c.G1200A:p.A400A",NA,NA,NA,NA,NA,NA
chr3,148925268,148925268,G,T,R018_F,CP,Missense_Mutation,NM_000096,exon5,c.C918A,p.N306K,SNP,SNVindel,exonic,CP,NA,nonsynonymous SNV,CP:NM_000096:exon5:c.C918A:p.N306K,T,N,N,D,N,T
chr3,169654200,169654200,G,C,R018_F,SAMD7,Missense_Mutation,NM_001304366,exon8,c.G1115C,p.G372A,SNP,SNVindel,exonic,SAMD7,NA,nonsynonymous SNV,"SAMD7:NM_001304366:exon8:c.G1115C:p.G372A,SAMD7:NM_182610:exon8:c.G1115C:p.G372A",D,D,D,T,D,D
chr5,140589502,140589502,C,T,R018_F,PCDHB12,Silent,NM_018932,exon1,c.C1023T,p.N341N,SNP,SNVindel,exonic,PCDHB12,NA,synonymous SNV,PCDHB12:NM_018932:exon1:c.C1023T:p.N341N,NA,NA,NA,NA,NA,NA
chr5,179731784,179731784,G,A,R018_F,GFPT2,Silent,NM_005110,exon17,c.C1830T,p.V610V,SNP,SNVindel,exonic,GFPT2,NA,synonymous SNV,GFPT2:NM_005110:exon17:c.C1830T:p.V610V,NA,NA,NA,NA,NA,NA
chr5,179731922,179731922,G,C,R018_F,GFPT2,Silent,NM_005110,exon17,c.C1692G,p.T564T,SNP,SNVindel,exonic,GFPT2,NA,synonymous SNV,GFPT2:NM_005110:exon17:c.C1692G:p.T564T,NA,NA,NA,NA,NA,NA
chr6,108985053,108985053,T,C,R018_F,FOXO3,Silent,NM_001455,exon2,c.T1017C,p.D339D,SNP,SNVindel,exonic,FOXO3,NA,synonymous SNV,"FOXO3:NM_001455:exon2:c.T1017C:p.D339D,FOXO3:NM_201559:exon3:c.T1017C:p.D339D",NA,NA,NA,NA,NA,NA
chr7,143047569,143047569,G,C,R018_F,CLCN1,Missense_Mutation,NM_000083,exon21,c.G2508C,p.K836N,SNP,SNVindel,exonic,CLCN1,NA,nonsynonymous SNV,CLCN1:NM_000083:exon21:c.G2508C:p.K836N,D,D,D,D,D,D
chr8,38148069,38148069,G,A,R018_F,NSD3,Silent,NM_023034,exon17,c.C3042T,p.G1014G,SNP,SNVindel,exonic,NSD3,NA,synonymous SNV,NSD3:NM_023034:exon17:c.C3042T:p.G1014G,NA,NA,NA,NA,NA,NA
chr8,85774546,85774546,C,T,R018_F,RALYL,Silent,NM_001287243,exon5,c.C396T,p.H132H,SNP,SNVindel,exonic,RALYL,NA,synonymous SNV,"RALYL:NM_001287243:exon5:c.C396T:p.H132H,RALYL:NM_001287244:exon5:c.C210T:p.H70H,RALYL:NM_001354315:exon5:c.C396T:p.H132H,RALYL:NM_001354321:exon5:c.C435T:p.H145H,RALYL:NM_001354322:exon5:c.C435T:p.H145H,RALYL:NM_001100391:exon6:c.C468T:p.H156H,RALYL:NM_001100393:exon6:c.C429T:p.H143H,RALYL:NM_001354307:exon6:c.C396T:p.H132H,RALYL:NM_001354310:exon6:c.C165T:p.H55H,RALYL:NM_001354311:exon6:c.C429T:p.H143H,RALYL:NM_001354312:exon6:c.C396T:p.H132H,RALYL:NM_001354313:exon6:c.C429T:p.H143H,RALYL:NM_001354314:exon6:c.C429T:p.H143H,RALYL:NM_001354317:exon6:c.C396T:p.H132H,RALYL:NM_001354318:exon6:c.C396T:p.H132H,RALYL:NM_001354323:exon6:c.C468T:p.H156H,RALYL:NM_001354325:exon6:c.C429T:p.H143H,RALYL:NM_173848:exon6:c.C429T:p.H143H,RALYL:NM_001100392:exon7:c.C429T:p.H143H,RALYL:NM_001354308:exon7:c.C429T:p.H143H,RALYL:NM_001354309:exon7:c.C396T:p.H132H,RALYL:NM_001354316:exon7:c.C429T:p.H143H,RALYL:NM_001354319:exon7:c.C429T:p.H143H,RALYL:NM_001354320:exon7:c.C429T:p.H143H,RALYL:NM_001354305:exon8:c.C429T:p.H143H,RALYL:NM_001354306:exon8:c.C429T:p.H143H",NA,NA,NA,NA,NA,NA
chr9,94495670,94495670,G,A,R018_F,ROR2,Missense_Mutation,NM_001318204,exon6,c.C671T,p.S224L,SNP,SNVindel,exonic,ROR2,NA,nonsynonymous SNV,"ROR2:NM_001318204:exon6:c.C671T:p.S224L,ROR2:NM_004560:exon6:c.C671T:p.S224L",D,N,D,T,D,D
chr9,100897128,100897128,G,A,R018_F,CORO2A,Missense_Mutation,NM_003389,exon4,c.C428T,p.T143M,SNP,SNVindel,exonic,CORO2A,NA,nonsynonymous SNV,"CORO2A:NM_003389:exon4:c.C428T:p.T143M,CORO2A:NM_052820:exon4:c.C428T:p.T143M",D,D,D,T,D,T
chr10,429977,429977,G,A,R018_F,DIP2C,Silent,NM_014974,exon16,c.C1866T,p.G622G,SNP,SNVindel,exonic,DIP2C,NA,synonymous SNV,DIP2C:NM_014974:exon16:c.C1866T:p.G622G,NA,NA,NA,NA,NA,NA
chr11,5373571,5373571,C,A,R018_F,OR51B6,Missense_Mutation,NM_001004750,exon1,c.C834A,p.H278Q,SNP,SNVindel,exonic,OR51B6,NA,nonsynonymous SNV,OR51B6:NM_001004750:exon1:c.C834A:p.H278Q,D,N,D,T,D,T
chr11,10327296,10327296,C,T,R018_F,ADM,Silent,NM_001124,exon2,c.C49T,p.L17L,SNP,SNVindel,exonic,ADM,NA,synonymous SNV,ADM:NM_001124:exon2:c.C49T:p.L17L,NA,NA,NA,NA,NA,NA
chr11,45671304,45671304,C,T,R018_F,CHST1,Silent,NM_003654,exon4,c.G1170A,p.S390S,SNP,SNVindel,exonic,CHST1,NA,synonymous SNV,CHST1:NM_003654:exon4:c.G1170A:p.S390S,NA,NA,NA,NA,NA,NA
chr11,55406609,55406609,C,T,R018_F,OR4P4,Missense_Mutation,NM_001004124,exon1,c.C776T,p.P259L,SNP,SNVindel,exonic,OR4P4,NA,nonsynonymous SNV,OR4P4:NM_001004124:exon1:c.C776T:p.P259L,D,N,D,T,D,T
chr11,57798597,57798597,G,A,R018_F,OR6Q1,Missense_Mutation,NM_001005186,exon1,c.G173A,p.R58Q,SNP,SNVindel,exonic,OR6Q1,NA,nonsynonymous SNV,OR6Q1:NM_001005186:exon1:c.G173A:p.R58Q,T,N,N,T,N,T
chr11,64329558,64329558,G,A,R018_F,SLC22A11,Missense_Mutation,NM_001307985,exon3,c.G580A,p.V194I,SNP,SNVindel,exonic,SLC22A11,NA,nonsynonymous SNV,"SLC22A11:NM_001307985:exon3:c.G580A:p.V194I,SLC22A11:NM_018484:exon3:c.G580A:p.V194I",T,N,N,T,N,T
chr11,87847172,87847172,C,A,R018_F,RAB38,Missense_Mutation,NM_022337,exon3,c.G620T,p.G207V,SNP,SNVindel,exonic,RAB38,NA,nonsynonymous SNV,RAB38:NM_022337:exon3:c.G620T:p.G207V,T,N,D,T,N,T
chr12,4409083,4409083,C,T,R018_F,CCND2,Nonsense_Mutation,NM_001759,exon5,c.C778T,p.Q260X,SNP,SNVindel,exonic,CCND2,NA,stopgain,CCND2:NM_001759:exon5:c.C778T:p.Q260X,.,D,D,.,.,.
chr12,50030609,50030609,C,T,R018_F,PRPF40B,Missense_Mutation,NM_001363607,exon15,c.C1471T,p.R491C,SNP,SNVindel,exonic,PRPF40B,NA,nonsynonymous SNV,"PRPF40B:NM_001363607:exon15:c.C1471T:p.R491C,PRPF40B:NM_012272:exon15:c.C1453T:p.R485C,PRPF40B:NM_001031698:exon16:c.C1537T:p.R513C",D,D,D,T,D,T
chr12,65564282,65564282,C,A,R018_F,LEMD3,Silent,NM_001167614,exon1,c.C906A,p.A302A,SNP,SNVindel,exonic,LEMD3,NA,synonymous SNV,"LEMD3:NM_001167614:exon1:c.C906A:p.A302A,LEMD3:NM_014319:exon1:c.C906A:p.A302A",NA,NA,NA,NA,NA,NA
chr12,129360521,129360521,G,A,R018_F,GLT1D1,Missense_Mutation,NM_001366886,exon2,c.G131A,p.R44Q,SNP,SNVindel,exonic,GLT1D1,NA,nonsynonymous SNV,"GLT1D1:NM_001366886:exon2:c.G131A:p.R44Q,GLT1D1:NM_001366889:exon2:c.G131A:p.R44Q,GLT1D1:NM_144669:exon2:c.G131A:p.R44Q",T,N,N,T,N,T
chr12,132529967,132529967,C,A,R018_F,EP400,Silent,NM_015409,exon38,c.C6888A,p.G2296G,SNP,SNVindel,exonic,EP400,NA,synonymous SNV,EP400:NM_015409:exon38:c.C6888A:p.G2296G,NA,NA,NA,NA,NA,NA
chr13,113771870,113771870,C,T,R018_F,F7,Silent,NM_001267554,exon5,c.C513T,p.F171F,SNP,SNVindel,exonic,F7,NA,synonymous SNV,"F7:NM_001267554:exon5:c.C513T:p.F171F,F7:NM_019616:exon7:c.C699T:p.F233F,F7:NM_000131:exon8:c.C765T:p.F255F",NA,NA,NA,NA,NA,NA
chr14,53217446,53217446,C,T,R018_F,STYX,Nonsense_Mutation,NM_145251,exon4,c.C190T,p.R64X,SNP,SNVindel,exonic,STYX,NA,stopgain,"STYX:NM_145251:exon4:c.C190T:p.R64X,STYX:NM_001130701:exon5:c.C190T:p.R64X",.,D,A,.,.,.
chr15,99671205,99671205,C,T,R018_F,SYNM,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SYNM,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr16,3705853,3705853,C,A,R018_F,DNASE1,Missense_Mutation,NM_005223,exon3,c.C151A,p.L51M,SNP,SNVindel,exonic,DNASE1,NA,nonsynonymous SNV,"DNASE1:NM_005223:exon3:c.C151A:p.L51M,DNASE1:NM_001351825:exon4:c.C151A:p.L51M",D,N,D,D,N,D
chr16,9857448,9857448,C,T,R018_F,GRIN2A,Missense_Mutation,NM_001134407,exon13,c.G3953A,p.R1318Q,SNP,SNVindel,exonic,GRIN2A,NA,nonsynonymous SNV,"GRIN2A:NM_001134407:exon13:c.G3953A:p.R1318Q,GRIN2A:NM_000833:exon14:c.G3953A:p.R1318Q",D,N,D,T,N,T
chr16,29884862,29884862,C,T,R018_F,SEZ6L2,Missense_Mutation,NM_001114100,exon11,c.G1951A,p.A651T,SNP,SNVindel,exonic,SEZ6L2,NA,nonsynonymous SNV,"SEZ6L2:NM_001114100:exon11:c.G1951A:p.A651T,SEZ6L2:NM_001243333:exon12:c.G2161A:p.A721T,SEZ6L2:NM_001114099:exon13:c.G2083A:p.A695T,SEZ6L2:NM_001243332:exon13:c.G2293A:p.A765T,SEZ6L2:NM_012410:exon13:c.G2083A:p.A695T,SEZ6L2:NM_201575:exon13:c.G2293A:p.A765T",T,N,D,T,N,T
chr16,66613682,66613682,C,T,R018_F,CMTM2,Missense_Mutation,NM_001199317,exon1,c.C172T,p.P58S,SNP,SNVindel,exonic,CMTM2,NA,nonsynonymous SNV,"CMTM2:NM_001199317:exon1:c.C172T:p.P58S,CMTM2:NM_144673:exon1:c.C172T:p.P58S",D,N,N,T,D,T
chr17,39535403,39535403,G,A,R018_F,KRT34,Missense_Mutation,NM_021013,exon6,c.C1028T,p.T343M,SNP,SNVindel,exonic,KRT34,NA,nonsynonymous SNV,KRT34:NM_021013:exon6:c.C1028T:p.T343M,.,D,N,D,.,T
chr17,72308276,72308276,G,A,R018_F,DNAI2,Silent,NM_001172810,exon12,c.G1593A,p.A531A,SNP,SNVindel,exonic,DNAI2,NA,synonymous SNV,"DNAI2:NM_001172810:exon12:c.G1593A:p.A531A,DNAI2:NM_001353167:exon12:c.G1629A:p.A543A,DNAI2:NM_023036:exon12:c.G1629A:p.A543A",NA,NA,NA,NA,NA,NA
chr18,61255920,61255920,G,A,R018_F,SERPINB13,Missense_Mutation,NM_001307923,exon2,c.G19A,p.V7I,SNP,SNVindel,exonic,SERPINB13,NA,nonsynonymous SNV,"SERPINB13:NM_001307923:exon2:c.G19A:p.V7I,SERPINB13:NM_012397:exon2:c.G19A:p.V7I",D,N,N,T,N,T
chr19,7833731,7833731,C,T,R018_F,CLEC4M,Missense_Mutation,NM_001144911,exon5,c.C860T,p.A287V,SNP,SNVindel,exonic,CLEC4M,NA,nonsynonymous SNV,"CLEC4M:NM_001144911:exon5:c.C860T:p.A287V,CLEC4M:NM_001144906:exon6:c.C649T:p.R217W,CLEC4M:NM_001144907:exon6:c.C856T:p.R286W,CLEC4M:NM_001144908:exon6:c.C668T:p.A223V,CLEC4M:NM_001144904:exon7:c.C904T:p.R302W,CLEC4M:NM_014257:exon7:c.C1057T:p.R353W,CLEC4M:NM_001144905:exon8:c.C985T:p.R329W,CLEC4M:NM_001144909:exon8:c.C919T:p.R307W,CLEC4M:NM_001144910:exon8:c.C988T:p.R330W",D,.,N,T,D,T
chr19,15067440,15067440,C,T,R018_F,SLC1A6,Silent,NM_005071,exon6,c.G1017A,p.L339L,SNP,SNVindel,exonic,SLC1A6,NA,synonymous SNV,SLC1A6:NM_005071:exon6:c.G1017A:p.L339L,NA,NA,NA,NA,NA,NA
chr19,18084899,18084899,G,A,R018_F,KCNN1,Missense_Mutation,NM_002248,exon3,c.G202A,p.D68N,SNP,SNVindel,exonic,KCNN1,NA,nonsynonymous SNV,KCNN1:NM_002248:exon3:c.G202A:p.D68N,.,U,N,.,.,T
chr19,52115643,52115643,G,A,R018_F,SIGLEC5,Silent,NM_003830,exon9,c.C1497T,p.P499P,SNP,SNVindel,exonic,SIGLEC5,NA,synonymous SNV,SIGLEC5:NM_003830:exon9:c.C1497T:p.P499P,NA,NA,NA,NA,NA,NA
chr19,56515208,56515208,C,T,R018_F,NLRP5,Silent,NM_153447,exon2,c.C189T,p.Y63Y,SNP,SNVindel,exonic,NLRP5,NA,synonymous SNV,NLRP5:NM_153447:exon2:c.C189T:p.Y63Y,NA,NA,NA,NA,NA,NA
chr20,50407509,50407509,C,T,R018_F,SALL4,Missense_Mutation,NM_020436,exon2,c.G1513A,p.G505S,SNP,SNVindel,exonic,SALL4,NA,nonsynonymous SNV,SALL4:NM_020436:exon2:c.G1513A:p.G505S,T,N,N,T,N,T
chr21,16339283,16339283,G,T,R018_F,NRIP1,Missense_Mutation,NM_003489,exon4,c.C1231A,p.P411T,SNP,SNVindel,exonic,NRIP1,NA,nonsynonymous SNV,NRIP1:NM_003489:exon4:c.C1231A:p.P411T,D,D,D,T,D,T
chr22,18609536,18609536,G,A,R018_F,TUBA8,Missense_Mutation,NM_001193414,exon4,c.G593A,p.R198H,SNP,SNVindel,exonic,TUBA8,NA,nonsynonymous SNV,"TUBA8:NM_001193414:exon4:c.G593A:p.R198H,TUBA8:NM_018943:exon4:c.G791A:p.R264H",D,D,D,D,D,D
chr22,43600126,43600126,G,A,R018_F,SCUBE1,Silent,NM_173050,exon22,c.C2844T,p.D948D,SNP,SNVindel,exonic,SCUBE1,NA,synonymous SNV,SCUBE1:NM_173050:exon22:c.C2844T:p.D948D,NA,NA,NA,NA,NA,NA
chr1,11015205,11015205,G,A,R018_S,C1orf127,Missense_Mutation,NM_001366227,exon7,c.C400T,p.P134S,SNP,SNVindel,exonic,C1orf127,NA,nonsynonymous SNV,"C1orf127:NM_001366227:exon7:c.C400T:p.P134S,C1orf127:NM_001170754:exon9:c.C817T:p.P273S",D,N,N,T,D,T
chr1,12907821,12907821,A,T,R018_S,HNRNPCL1,Missense_Mutation,NM_001146181,exon1,c.T322A,p.S108T,SNP,SNVindel,exonic,HNRNPCL1;HNRNPCL3;HNRNPCL4,NA,nonsynonymous SNV,"HNRNPCL3:NM_001146181:exon1:c.T322A:p.S108T,HNRNPCL4:NM_001302551:exon1:c.T322A:p.S108T,HNRNPCL1:NM_001013631:exon2:c.T322A:p.S108T",T,U,D,T,N,T
chr1,39876920,39876920,T,C,R018_S,KIAA0754,Missense_Mutation,NM_015038,exon1,c.T983C,p.I328T,SNP,SNVindel,exonic,KIAA0754,NA,nonsynonymous SNV,KIAA0754:NM_015038:exon1:c.T983C:p.I328T,.,.,D,.,.,T
chr1,40150150,40150150,G,A,R018_S,HPCAL4,Silent,NM_001282397,exon2,c.C126T,p.I42I,SNP,SNVindel,exonic,HPCAL4,NA,synonymous SNV,"HPCAL4:NM_001282397:exon2:c.C126T:p.I42I,HPCAL4:NM_016257:exon2:c.C126T:p.I42I,HPCAL4:NM_001282396:exon3:c.C126T:p.I42I",NA,NA,NA,NA,NA,NA
chr1,66102366,66102366,G,T,R018_S,LEPR,Nonsense_Mutation,NM_002303,exon20,c.G3166T,p.G1056X,SNP,SNVindel,exonic,LEPR,NA,stopgain,LEPR:NM_002303:exon20:c.G3166T:p.G1056X,.,N,D,.,.,.
chr1,79383365,79383365,T,C,R018_S,ADGRL4,Missense_Mutation,NM_022159,exon12,c.A1703G,p.N568S,SNP,SNVindel,exonic,ADGRL4,NA,nonsynonymous SNV,ADGRL4:NM_022159:exon12:c.A1703G:p.N568S,D,D,D,T,D,T
chr1,92540784,92540784,T,C,R018_S,SETSIP,Missense_Mutation,NM_001287737,exon1,c.A215G,p.D72G,SNP,SNVindel,exonic,SETSIP,NA,nonsynonymous SNV,SETSIP:NM_001287737:exon1:c.A215G:p.D72G,.,.,.,.,.,.
chr1,151535133,151535133,T,C,R018_S,TUFT1,Missense_Mutation,NM_001126337,exon2,c.T133C,p.S45P,SNP,SNVindel,exonic,TUFT1,NA,nonsynonymous SNV,"TUFT1:NM_001126337:exon2:c.T133C:p.S45P,TUFT1:NM_020127:exon3:c.T208C:p.S70P,TUFT1:NM_001301317:exon4:c.T265C:p.S89P",T,D,D,T,N,T
chr1,153920967,153920967,G,A,R018_S,CRTC2,Missense_Mutation,NM_181715,exon13,c.C1828T,p.R610C,SNP,SNVindel,exonic,CRTC2,NA,nonsynonymous SNV,CRTC2:NM_181715:exon13:c.C1828T:p.R610C,D,D,D,T,N,T
chr1,154570986,154570986,C,A,R018_S,ADAR,Missense_Mutation,NM_001025107,exon3,c.G792T,p.Q264H,SNP,SNVindel,exonic,ADAR,NA,nonsynonymous SNV,"ADAR:NM_001025107:exon3:c.G792T:p.Q264H,ADAR:NM_001111:exon3:c.G1677T:p.Q559H,ADAR:NM_001193495:exon3:c.G792T:p.Q264H,ADAR:NM_001365045:exon3:c.G1704T:p.Q568H,ADAR:NM_001365048:exon3:c.G792T:p.Q264H,ADAR:NM_015840:exon3:c.G1677T:p.Q559H,ADAR:NM_015841:exon3:c.G1677T:p.Q559H,ADAR:NM_001365046:exon4:c.G792T:p.Q264H,ADAR:NM_001365047:exon4:c.G792T:p.Q264H,ADAR:NM_001365049:exon4:c.G792T:p.Q264H",D,D,D,T,N,T
chr1,176564679,176564679,C,T,R018_S,PAPPA2,Missense_Mutation,NM_020318,exon3,c.C1939T,p.P647S,SNP,SNVindel,exonic,PAPPA2,NA,nonsynonymous SNV,"PAPPA2:NM_020318:exon3:c.C1939T:p.P647S,PAPPA2:NM_021936:exon3:c.C1939T:p.P647S",T,N,D,T,D,T
chr1,185833760,185833760,A,G,R018_S,HMCN1,Silent,NM_031935,exon3,c.A498G,p.Q166Q,SNP,SNVindel,exonic,HMCN1,NA,synonymous SNV,HMCN1:NM_031935:exon3:c.A498G:p.Q166Q,NA,NA,NA,NA,NA,NA
chr1,237982395,237982395,C,A,R018_S,RYR2,Silent,NM_001035,exon101,c.C14493A,p.I4831I,SNP,SNVindel,exonic,RYR2,NA,synonymous SNV,RYR2:NM_001035:exon101:c.C14493A:p.I4831I,NA,NA,NA,NA,NA,NA
chr1,241959665,241959665,G,A,R018_S,WDR64,Missense_Mutation,NM_001367482,exon27,c.G3185A,p.R1062H,SNP,SNVindel,exonic,WDR64,NA,nonsynonymous SNV,WDR64:NM_001367482:exon27:c.G3185A:p.R1062H,T,N,N,T,N,T
chr2,10186413,10186413,G,T,R018_S,KLF11,Missense_Mutation,NM_001177716,exon2,c.G128T,p.R43I,SNP,SNVindel,exonic,KLF11,NA,nonsynonymous SNV,"KLF11:NM_001177716:exon2:c.G128T:p.R43I,KLF11:NM_001177718:exon2:c.G128T:p.R43I,KLF11:NM_003597:exon2:c.G179T:p.R60I",D,D,D,T,D,T
chr2,20240757,20240757,T,A,R018_S,LAPTM4A,Missense_Mutation,NM_014713,exon2,c.A127T,p.M43L,SNP,SNVindel,exonic,LAPTM4A,NA,nonsynonymous SNV,LAPTM4A:NM_014713:exon2:c.A127T:p.M43L,T,D,D,T,N,T
chr2,95947041,95947041,C,T,R018_S,PROM2,Silent,NM_001165977,exon12,c.C1479T,p.F493F,SNP,SNVindel,exonic,PROM2,NA,synonymous SNV,"PROM2:NM_001165977:exon12:c.C1479T:p.F493F,PROM2:NM_001165978:exon12:c.C1479T:p.F493F,PROM2:NM_001321070:exon12:c.C441T:p.F147F,PROM2:NM_144707:exon12:c.C1479T:p.F493F",NA,NA,NA,NA,NA,NA
chr2,116534868,116534868,C,A,R018_S,DPP10,Missense_Mutation,NM_001321913,exon12,c.C544A,p.Q182K,SNP,SNVindel,exonic,DPP10,NA,nonsynonymous SNV,"DPP10:NM_001321913:exon12:c.C544A:p.Q182K,DPP10:NM_001321909:exon13:c.C1189A:p.Q397K,DPP10:NM_001004360:exon14:c.C1285A:p.Q429K,DPP10:NM_001178034:exon14:c.C1318A:p.Q440K,DPP10:NM_001178037:exon14:c.C1294A:p.Q432K,DPP10:NM_001321908:exon14:c.C1216A:p.Q406K,DPP10:NM_001321911:exon14:c.C1156A:p.Q386K,DPP10:NM_001321914:exon14:c.C544A:p.Q182K,DPP10:NM_001178036:exon15:c.C1156A:p.Q386K,DPP10:NM_001321905:exon15:c.C1357A:p.Q453K,DPP10:NM_001321906:exon15:c.C1285A:p.Q429K,DPP10:NM_001321910:exon15:c.C1156A:p.Q386K,DPP10:NM_001321912:exon15:c.C1156A:p.Q386K",T,N,D,T,N,T
chr2,220329174,220329174,G,A,R018_S,SPEG,Missense_Mutation,NM_001173476,exon4,c.G178A,p.V60M,SNP,SNVindel,exonic,SPEG,NA,nonsynonymous SNV,"SPEG:NM_001173476:exon4:c.G178A:p.V60M,SPEG:NM_005876:exon9:c.G2725A:p.V909M",D,N,D,T,N,T
chr2,220479926,220479926,G,A,R018_S,STK11IP,Missense_Mutation,NM_052902,exon24,c.G2980A,p.E994K,SNP,SNVindel,exonic,STK11IP,NA,nonsynonymous SNV,STK11IP:NM_052902:exon24:c.G2980A:p.E994K,T,N,N,T,N,T
chr3,68466552,68466552,C,T,R018_S,TAFA1,Missense_Mutation,NM_001252216,exon3,c.C241T,p.R81W,SNP,SNVindel,exonic,TAFA1,NA,nonsynonymous SNV,"TAFA1:NM_001252216:exon3:c.C241T:p.R81W,TAFA1:NM_213609:exon3:c.C241T:p.R81W",D,D,N,.,D,T
chr3,148925268,148925268,G,T,R018_S,CP,Missense_Mutation,NM_000096,exon5,c.C918A,p.N306K,SNP,SNVindel,exonic,CP,NA,nonsynonymous SNV,CP:NM_000096:exon5:c.C918A:p.N306K,T,N,N,D,N,T
chr3,195505763,195505763,G,A,R018_S,MUC4,Missense_Mutation,NM_018406,exon2,c.C12688T,p.L4230F,SNP,SNVindel,exonic,MUC4,NA,nonsynonymous SNV,MUC4:NM_018406:exon2:c.C12688T:p.L4230F,T,.,N,T,N,T
chr3,195505781,195505781,G,A,R018_S,MUC4,Missense_Mutation,NM_018406,exon2,c.C12670T,p.P4224S,SNP,SNVindel,exonic,MUC4,NA,nonsynonymous SNV,MUC4:NM_018406:exon2:c.C12670T:p.P4224S,T,.,N,T,N,T
chr4,104640321,104640321,G,T,R018_S,TACR3,Missense_Mutation,NM_001059,exon1,c.C512A,p.A171D,SNP,SNVindel,exonic,TACR3,NA,nonsynonymous SNV,TACR3:NM_001059:exon1:c.C512A:p.A171D,D,D,D,T,D,D
chr5,38953151,38953151,C,G,R018_S,RICTOR,Missense_Mutation,NM_001285439,exon29,c.G2833C,p.E945Q,SNP,SNVindel,exonic,RICTOR,NA,nonsynonymous SNV,"RICTOR:NM_001285439:exon29:c.G2833C:p.E945Q,RICTOR:NM_001285440:exon29:c.G1978C:p.E660Q,RICTOR:NM_152756:exon29:c.G2833C:p.E945Q",T,D,D,T,N,T
chr5,140589502,140589502,C,T,R018_S,PCDHB12,Silent,NM_018932,exon1,c.C1023T,p.N341N,SNP,SNVindel,exonic,PCDHB12,NA,synonymous SNV,PCDHB12:NM_018932:exon1:c.C1023T:p.N341N,NA,NA,NA,NA,NA,NA
chr5,176318142,176318142,G,A,R018_S,HK3,Missense_Mutation,NM_002115,exon4,c.C310T,p.R104C,SNP,SNVindel,exonic,HK3,NA,nonsynonymous SNV,HK3:NM_002115:exon4:c.C310T:p.R104C,D,D,D,D,D,D
chr5,179731784,179731784,G,A,R018_S,GFPT2,Silent,NM_005110,exon17,c.C1830T,p.V610V,SNP,SNVindel,exonic,GFPT2,NA,synonymous SNV,GFPT2:NM_005110:exon17:c.C1830T:p.V610V,NA,NA,NA,NA,NA,NA
chr5,179731922,179731922,G,C,R018_S,GFPT2,Silent,NM_005110,exon17,c.C1692G,p.T564T,SNP,SNVindel,exonic,GFPT2,NA,synonymous SNV,GFPT2:NM_005110:exon17:c.C1692G:p.T564T,NA,NA,NA,NA,NA,NA
chr5,180432563,180432563,G,A,R018_S,BTNL3,Silent,NM_197975,exon8,c.G1092A,p.R364R,SNP,SNVindel,exonic,BTNL3,NA,synonymous SNV,BTNL3:NM_197975:exon8:c.G1092A:p.R364R,NA,NA,NA,NA,NA,NA
chr6,35754893,35754893,C,T,R018_S,CLPSL1,Missense_Mutation,NM_001010886,exon2,c.C218T,p.T73M,SNP,SNVindel,exonic,CLPSL1,NA,nonsynonymous SNV,"CLPSL1:NM_001010886:exon2:c.C218T:p.T73M,CLPSL1:NM_001348773:exon2:c.C218T:p.T73M",T,N,N,T,N,T
chr6,73000477,73000477,C,T,R018_S,RIMS1,Missense_Mutation,NM_001350420,exon16,c.C1724T,p.S575L,SNP,SNVindel,exonic,RIMS1,NA,nonsynonymous SNV,"RIMS1:NM_001350420:exon16:c.C1724T:p.S575L,RIMS1:NM_001350431:exon16:c.C1706T:p.S569L,RIMS1:NM_001350438:exon17:c.C1793T:p.S598L,RIMS1:NM_001350442:exon17:c.C1796T:p.S599L,RIMS1:NM_001350446:exon17:c.C1796T:p.S599L,RIMS1:NM_001350456:exon17:c.C1793T:p.S598L,RIMS1:NM_001350462:exon17:c.C1655T:p.S552L,RIMS1:NM_014989:exon25:c.C3650T:p.S1217L",D,N,D,T,N,T
chr7,38431495,38431495,T,A,R018_S,AMPH,Missense_Mutation,NM_139316,exon18,c.A1606T,p.T536S,SNP,SNVindel,exonic,AMPH,NA,nonsynonymous SNV,"AMPH:NM_139316:exon18:c.A1606T:p.T536S,AMPH:NM_001635:exon19:c.A1732T:p.T578S",T,N,N,T,N,T
chr7,39610108,39610108,G,T,R018_S,YAE1,Missense_Mutation,NM_001282446,exon2,c.G133T,p.G45C,SNP,SNVindel,exonic,YAE1,NA,nonsynonymous SNV,"YAE1:NM_001282446:exon2:c.G133T:p.G45C,YAE1:NM_020192:exon2:c.G133T:p.G45C",D,D,D,D,D,D
chr8,38148069,38148069,G,A,R018_S,NSD3,Silent,NM_023034,exon17,c.C3042T,p.G1014G,SNP,SNVindel,exonic,NSD3,NA,synonymous SNV,NSD3:NM_023034:exon17:c.C3042T:p.G1014G,NA,NA,NA,NA,NA,NA
chr8,42611458,42611458,G,T,R018_S,CHRNA6,Missense_Mutation,NM_001199279,exon4,c.C839A,p.S280Y,SNP,SNVindel,exonic,CHRNA6,NA,nonsynonymous SNV,"CHRNA6:NM_001199279:exon4:c.C839A:p.S280Y,CHRNA6:NM_004198:exon5:c.C884A:p.S295Y",D,D,D,T,D,D
chr8,106813856,106813856,A,G,R018_S,ZFPM2,Missense_Mutation,NM_001362836,exon7,c.A1387G,p.I463V,SNP,SNVindel,exonic,ZFPM2,NA,nonsynonymous SNV,"ZFPM2:NM_001362836:exon7:c.A1387G:p.I463V,ZFPM2:NM_001362837:exon8:c.A1150G:p.I384V,ZFPM2:NM_012082:exon8:c.A1546G:p.I516V",D,D,D,T,N,T
chr9,94495670,94495670,G,A,R018_S,ROR2,Missense_Mutation,NM_001318204,exon6,c.C671T,p.S224L,SNP,SNVindel,exonic,ROR2,NA,nonsynonymous SNV,"ROR2:NM_001318204:exon6:c.C671T:p.S224L,ROR2:NM_004560:exon6:c.C671T:p.S224L",D,N,D,T,D,D
chr9,100433399,100433399,C,T,R018_S,NCBP1,Missense_Mutation,NM_001351507,exon22,c.C1181T,p.T394I,SNP,SNVindel,exonic,NCBP1,NA,nonsynonymous SNV,"NCBP1:NM_001351507:exon22:c.C1181T:p.T394I,NCBP1:NM_001351504:exon23:c.C2090T:p.T697I,NCBP1:NM_001351505:exon23:c.C1721T:p.T574I,NCBP1:NM_001351506:exon23:c.C1721T:p.T574I,NCBP1:NM_002486:exon23:c.C2291T:p.T764I",D,D,D,.,D,T
chr9,100897128,100897128,G,A,R018_S,CORO2A,Missense_Mutation,NM_003389,exon4,c.C428T,p.T143M,SNP,SNVindel,exonic,CORO2A,NA,nonsynonymous SNV,"CORO2A:NM_003389:exon4:c.C428T:p.T143M,CORO2A:NM_052820:exon4:c.C428T:p.T143M",D,D,D,T,D,T
chr9,125288716,125288716,A,G,R018_S,OR1N1,Missense_Mutation,NM_012363,exon1,c.T857C,p.F286S,SNP,SNVindel,exonic,OR1N1,NA,nonsynonymous SNV,OR1N1:NM_012363:exon1:c.T857C:p.F286S,D,U,D,T,D,T
chr10,93559,93559,A,G,R018_S,TUBB8,Missense_Mutation,NM_177987,exon4,c.T773C,p.V258A,SNP,SNVindel,exonic,TUBB8,NA,nonsynonymous SNV,TUBB8:NM_177987:exon4:c.T773C:p.V258A,D,U,D,D,D,D
chr10,119012968,119012968,A,T,R018_S,SLC18A2,Missense_Mutation,NM_003054,exon4,c.A523T,p.M175L,SNP,SNVindel,exonic,SLC18A2,NA,nonsynonymous SNV,SLC18A2:NM_003054:exon4:c.A523T:p.M175L,T,D,D,T,N,T
chr11,1093512,1093512,C,A,R018_S,MUC2,Silent,NM_002457,exon31,c.C5331A,p.T1777T,SNP,SNVindel,exonic,MUC2,NA,synonymous SNV,MUC2:NM_002457:exon31:c.C5331A:p.T1777T,NA,NA,NA,NA,NA,NA
chr11,10327296,10327296,C,T,R018_S,ADM,Silent,NM_001124,exon2,c.C49T,p.L17L,SNP,SNVindel,exonic,ADM,NA,synonymous SNV,ADM:NM_001124:exon2:c.C49T:p.L17L,NA,NA,NA,NA,NA,NA
chr11,45671304,45671304,C,T,R018_S,CHST1,Silent,NM_003654,exon4,c.G1170A,p.S390S,SNP,SNVindel,exonic,CHST1,NA,synonymous SNV,CHST1:NM_003654:exon4:c.G1170A:p.S390S,NA,NA,NA,NA,NA,NA
chr11,55406609,55406609,C,T,R018_S,OR4P4,Missense_Mutation,NM_001004124,exon1,c.C776T,p.P259L,SNP,SNVindel,exonic,OR4P4,NA,nonsynonymous SNV,OR4P4:NM_001004124:exon1:c.C776T:p.P259L,D,N,D,T,D,T
chr11,55541762,55541762,G,A,R018_S,OR5D13,Silent,NM_001001967,exon1,c.G849A,p.A283A,SNP,SNVindel,exonic,OR5D13,NA,synonymous SNV,OR5D13:NM_001001967:exon1:c.G849A:p.A283A,NA,NA,NA,NA,NA,NA
chr11,64329558,64329558,G,A,R018_S,SLC22A11,Missense_Mutation,NM_001307985,exon3,c.G580A,p.V194I,SNP,SNVindel,exonic,SLC22A11,NA,nonsynonymous SNV,"SLC22A11:NM_001307985:exon3:c.G580A:p.V194I,SLC22A11:NM_018484:exon3:c.G580A:p.V194I",T,N,N,T,N,T
chr11,66264790,66264790,G,A,R018_S,DPP3,Missense_Mutation,NM_001256670,exon15,c.G1630A,p.V544M,SNP,SNVindel,exonic,DPP3,NA,nonsynonymous SNV,"DPP3:NM_001256670:exon15:c.G1630A:p.V544M,DPP3:NM_005700:exon16:c.G1720A:p.V574M,DPP3:NM_130443:exon16:c.G1720A:p.V574M",D,D,D,T,D,T
chr11,67161006,67161006,A,G,R018_S,RAD9A,Missense_Mutation,NM_001243224,exon1,c.A46G,p.K16E,SNP,SNVindel,exonic,RAD9A,NA,nonsynonymous SNV,"RAD9A:NM_001243224:exon1:c.A46G:p.K16E,RAD9A:NM_004584:exon4:c.A274G:p.K92E",D,D,D,T,D,T
chr11,87847172,87847172,C,A,R018_S,RAB38,Missense_Mutation,NM_022337,exon3,c.G620T,p.G207V,SNP,SNVindel,exonic,RAB38,NA,nonsynonymous SNV,RAB38:NM_022337:exon3:c.G620T:p.G207V,T,N,D,T,N,T
chr12,50030609,50030609,C,T,R018_S,PRPF40B,Missense_Mutation,NM_001363607,exon15,c.C1471T,p.R491C,SNP,SNVindel,exonic,PRPF40B,NA,nonsynonymous SNV,"PRPF40B:NM_001363607:exon15:c.C1471T:p.R491C,PRPF40B:NM_012272:exon15:c.C1453T:p.R485C,PRPF40B:NM_001031698:exon16:c.C1537T:p.R513C",D,D,D,T,D,T
chr12,63544270,63544270,C,T,R018_S,AVPR1A,Missense_Mutation,NM_000706,exon1,c.G347A,p.R116H,SNP,SNVindel,exonic,AVPR1A,NA,nonsynonymous SNV,AVPR1A:NM_000706:exon1:c.G347A:p.R116H,D,D,D,T,D,D
chr12,65564282,65564282,C,A,R018_S,LEMD3,Silent,NM_001167614,exon1,c.C906A,p.A302A,SNP,SNVindel,exonic,LEMD3,NA,synonymous SNV,"LEMD3:NM_001167614:exon1:c.C906A:p.A302A,LEMD3:NM_014319:exon1:c.C906A:p.A302A",NA,NA,NA,NA,NA,NA
chr12,129360521,129360521,G,A,R018_S,GLT1D1,Missense_Mutation,NM_001366886,exon2,c.G131A,p.R44Q,SNP,SNVindel,exonic,GLT1D1,NA,nonsynonymous SNV,"GLT1D1:NM_001366886:exon2:c.G131A:p.R44Q,GLT1D1:NM_001366889:exon2:c.G131A:p.R44Q,GLT1D1:NM_144669:exon2:c.G131A:p.R44Q",T,N,N,T,N,T
chr13,113771870,113771870,C,T,R018_S,F7,Silent,NM_001267554,exon5,c.C513T,p.F171F,SNP,SNVindel,exonic,F7,NA,synonymous SNV,"F7:NM_001267554:exon5:c.C513T:p.F171F,F7:NM_019616:exon7:c.C699T:p.F233F,F7:NM_000131:exon8:c.C765T:p.F255F",NA,NA,NA,NA,NA,NA
chr14,44975114,44975114,A,T,R018_S,FSCB,Silent,NM_032135,exon1,c.T1077A,p.P359P,SNP,SNVindel,exonic,FSCB,NA,synonymous SNV,FSCB:NM_032135:exon1:c.T1077A:p.P359P,NA,NA,NA,NA,NA,NA
chr14,74004293,74004293,C,T,R018_S,ACOT1,Silent,NM_001037161,exon1,c.C168T,p.T56T,SNP,SNVindel,exonic,ACOT1,NA,synonymous SNV,ACOT1:NM_001037161:exon1:c.C168T:p.T56T,NA,NA,NA,NA,NA,NA
chr14,105418809,105418809,G,A,R018_S,AHNAK2,Silent,NM_001350929,exon7,c.C2679T,p.A893A,SNP,SNVindel,exonic,AHNAK2,NA,synonymous SNV,"AHNAK2:NM_001350929:exon7:c.C2679T:p.A893A,AHNAK2:NM_138420:exon7:c.C2979T:p.A993A",NA,NA,NA,NA,NA,NA
chr15,99671205,99671205,C,T,R018_S,SYNM,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,SYNM,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr16,9857448,9857448,C,T,R018_S,GRIN2A,Missense_Mutation,NM_001134407,exon13,c.G3953A,p.R1318Q,SNP,SNVindel,exonic,GRIN2A,NA,nonsynonymous SNV,"GRIN2A:NM_001134407:exon13:c.G3953A:p.R1318Q,GRIN2A:NM_000833:exon14:c.G3953A:p.R1318Q",D,N,D,T,N,T
chr16,21156695,21156695,C,G,R018_S,DNAH3,Missense_Mutation,NM_017539,exon3,c.G255C,p.L85F,SNP,SNVindel,exonic,DNAH3,NA,nonsynonymous SNV,"DNAH3:NM_017539:exon3:c.G255C:p.L85F,DNAH3:NM_001347886:exon4:c.G168C:p.L56F",D,D,D,T,N,T
chr16,24185900,24185900,C,T,R018_S,PRKCB,Missense_Mutation,NM_002738,exon12,c.C1393T,p.R465C,SNP,SNVindel,exonic,PRKCB,NA,nonsynonymous SNV,"PRKCB:NM_002738:exon12:c.C1393T:p.R465C,PRKCB:NM_212535:exon12:c.C1393T:p.R465C",D,D,D,T,D,T
chr16,28507452,28507452,G,T,R018_S,APOBR,Missense_Mutation,NM_018690,exon2,c.G1090T,p.G364W,SNP,SNVindel,exonic,APOBR,NA,nonsynonymous SNV,APOBR:NM_018690:exon2:c.G1090T:p.G364W,D,.,N,T,N,T
chr16,29884862,29884862,C,T,R018_S,SEZ6L2,Missense_Mutation,NM_001114100,exon11,c.G1951A,p.A651T,SNP,SNVindel,exonic,SEZ6L2,NA,nonsynonymous SNV,"SEZ6L2:NM_001114100:exon11:c.G1951A:p.A651T,SEZ6L2:NM_001243333:exon12:c.G2161A:p.A721T,SEZ6L2:NM_001114099:exon13:c.G2083A:p.A695T,SEZ6L2:NM_001243332:exon13:c.G2293A:p.A765T,SEZ6L2:NM_012410:exon13:c.G2083A:p.A695T,SEZ6L2:NM_201575:exon13:c.G2293A:p.A765T",T,N,D,T,N,T
chr16,55866934,55866934,A,C,R018_S,CES1,Missense_Mutation,NM_001025194,exon1,c.T34G,p.S12A,SNP,SNVindel,exonic,CES1,NA,nonsynonymous SNV,"CES1:NM_001025194:exon1:c.T34G:p.S12A,CES1:NM_001025195:exon1:c.T34G:p.S12A,CES1:NM_001266:exon1:c.T34G:p.S12A",T,N,N,T,N,T
chr16,66613682,66613682,C,T,R018_S,CMTM2,Missense_Mutation,NM_001199317,exon1,c.C172T,p.P58S,SNP,SNVindel,exonic,CMTM2,NA,nonsynonymous SNV,"CMTM2:NM_001199317:exon1:c.C172T:p.P58S,CMTM2:NM_144673:exon1:c.C172T:p.P58S",D,N,N,T,D,T
chr16,74425702,74425702,G,A,R018_S,NPIPB15,Silent,NM_001306094,exon7,c.G1056A,p.A352A,SNP,SNVindel,exonic,NPIPB15,NA,synonymous SNV,NPIPB15:NM_001306094:exon7:c.G1056A:p.A352A,NA,NA,NA,NA,NA,NA
chr16,74425703,74425703,G,A,R018_S,NPIPB15,Missense_Mutation,NM_001306094,exon7,c.G1057A,p.E353K,SNP,SNVindel,exonic,NPIPB15,NA,nonsynonymous SNV,NPIPB15:NM_001306094:exon7:c.G1057A:p.E353K,T,.,N,T,N,T
chr16,89245845,89245845,G,T,R018_S,CDH15,Missense_Mutation,NM_004933,exon2,c.G64T,p.V22F,SNP,SNVindel,exonic,CDH15,NA,nonsynonymous SNV,CDH15:NM_004933:exon2:c.G64T:p.V22F,D,U,N,T,N,T
chr17,1839885,1839885,G,A,R018_S,RTN4RL1,Missense_Mutation,NM_178568,exon2,c.C1231T,p.R411C,SNP,SNVindel,exonic,RTN4RL1,NA,nonsynonymous SNV,RTN4RL1:NM_178568:exon2:c.C1231T:p.R411C,D,N,D,T,D,T
chr17,7330668,7330668,G,A,R018_S,SPEM2,Missense_Mutation,NM_175734,exon3,c.G1358A,p.G453E,SNP,SNVindel,exonic,SPEM2,NA,nonsynonymous SNV,SPEM2:NM_175734:exon3:c.G1358A:p.G453E,D,N,D,T,D,T
chr17,26818763,26818763,C,T,R018_S,SLC13A2,Silent,NM_001145975,exon6,c.C918T,p.N306N,SNP,SNVindel,exonic,SLC13A2,NA,synonymous SNV,"SLC13A2:NM_001145975:exon6:c.C918T:p.N306N,SLC13A2:NM_003984:exon6:c.C771T:p.N257N,SLC13A2:NM_001346683:exon7:c.C639T:p.N213N,SLC13A2:NM_001346684:exon8:c.C558T:p.N186N",NA,NA,NA,NA,NA,NA
chr17,27421090,27421090,T,A,R018_S,MYO18A,Missense_Mutation,NM_001346768,exon31,c.A3355T,p.M1119L,SNP,SNVindel,exonic,MYO18A,NA,nonsynonymous SNV,"MYO18A:NM_001346768:exon31:c.A3355T:p.M1119L,MYO18A:NM_078471:exon31:c.A4729T:p.M1577L,MYO18A:NM_203318:exon31:c.A4729T:p.M1577L,MYO18A:NM_001346766:exon32:c.A4765T:p.M1589L,MYO18A:NM_001346765:exon33:c.A4786T:p.M1596L",T,D,D,T,N,T
chr17,39183145,39183145,A,G,R018_S,KRTAP1-5,Missense_Mutation,NM_031957,exon1,c.T263C,p.I88T,SNP,SNVindel,exonic,KRTAP1-5,NA,nonsynonymous SNV,KRTAP1-5:NM_031957:exon1:c.T263C:p.I88T,T,.,N,T,N,T
chr17,39197549,39197549,G,C,R018_S,KRTAP1-1,Missense_Mutation,NM_030967,exon1,c.C101G,p.S34C,SNP,SNVindel,exonic,KRTAP1-1,NA,nonsynonymous SNV,KRTAP1-1:NM_030967:exon1:c.C101G:p.S34C,T,.,N,T,N,T
chr17,39274291,39274291,T,C,R018_S,KRTAP4-11,Missense_Mutation,NM_033059,exon1,c.A277G,p.M93V,SNP,SNVindel,exonic,KRTAP4-11,NA,nonsynonymous SNV,KRTAP4-11:NM_033059:exon1:c.A277G:p.M93V,T,.,N,T,N,T
chr17,39535403,39535403,G,A,R018_S,KRT34,Missense_Mutation,NM_021013,exon6,c.C1028T,p.T343M,SNP,SNVindel,exonic,KRT34,NA,nonsynonymous SNV,KRT34:NM_021013:exon6:c.C1028T:p.T343M,.,D,N,D,.,T
chr17,60767640,60767640,A,G,R018_S,MRC2,Missense_Mutation,NM_006039,exon26,c.A3866G,p.K1289R,SNP,SNVindel,exonic,MRC2,NA,nonsynonymous SNV,MRC2:NM_006039:exon26:c.A3866G:p.K1289R,T,D,D,T,N,T
chr18,47911,47911,G,A,R018_S,TUBB8B,Missense_Mutation,NM_001358689,exon4,c.C814T,p.P272S,SNP,SNVindel,exonic,TUBB8B,NA,nonsynonymous SNV,TUBB8B:NM_001358689:exon4:c.C814T:p.P272S,.,U,.,D,D,D
chr18,29793334,29793334,A,G,R018_S,MEP1B,Missense_Mutation,NM_001308171,exon11,c.A1391G,p.Y464C,SNP,SNVindel,exonic,MEP1B,NA,nonsynonymous SNV,"MEP1B:NM_001308171:exon11:c.A1391G:p.Y464C,MEP1B:NM_005925:exon11:c.A1391G:p.Y464C",T,N,N,T,N,T
chr18,61255920,61255920,G,A,R018_S,SERPINB13,Missense_Mutation,NM_001307923,exon2,c.G19A,p.V7I,SNP,SNVindel,exonic,SERPINB13,NA,nonsynonymous SNV,"SERPINB13:NM_001307923:exon2:c.G19A:p.V7I,SERPINB13:NM_012397:exon2:c.G19A:p.V7I",D,N,N,T,N,T
chr19,536246,536246,G,A,R018_S,CDC34,Missense_Mutation,NM_004359,exon3,c.G268A,p.G90R,SNP,SNVindel,exonic,CDC34,NA,nonsynonymous SNV,CDC34:NM_004359:exon3:c.G268A:p.G90R,D,D,D,T,D,D
chr19,1056080,1056080,G,A,R018_S,ABCA7,Silent,NM_019112,exon32,c.G4254A,p.S1418S,SNP,SNVindel,exonic,ABCA7,NA,synonymous SNV,ABCA7:NM_019112:exon32:c.G4254A:p.S1418S,NA,NA,NA,NA,NA,NA
chr19,7833731,7833731,C,T,R018_S,CLEC4M,Missense_Mutation,NM_001144911,exon5,c.C860T,p.A287V,SNP,SNVindel,exonic,CLEC4M,NA,nonsynonymous SNV,"CLEC4M:NM_001144911:exon5:c.C860T:p.A287V,CLEC4M:NM_001144906:exon6:c.C649T:p.R217W,CLEC4M:NM_001144907:exon6:c.C856T:p.R286W,CLEC4M:NM_001144908:exon6:c.C668T:p.A223V,CLEC4M:NM_001144904:exon7:c.C904T:p.R302W,CLEC4M:NM_014257:exon7:c.C1057T:p.R353W,CLEC4M:NM_001144905:exon8:c.C985T:p.R329W,CLEC4M:NM_001144909:exon8:c.C919T:p.R307W,CLEC4M:NM_001144910:exon8:c.C988T:p.R330W",D,.,N,T,D,T
chr19,15067440,15067440,C,T,R018_S,SLC1A6,Silent,NM_005071,exon6,c.G1017A,p.L339L,SNP,SNVindel,exonic,SLC1A6,NA,synonymous SNV,SLC1A6:NM_005071:exon6:c.G1017A:p.L339L,NA,NA,NA,NA,NA,NA
chr19,16008331,16008331,G,A,R018_S,CYP4F2,Silent,NM_001082,exon2,c.C91T,p.L31L,SNP,SNVindel,exonic,CYP4F2,NA,synonymous SNV,CYP4F2:NM_001082:exon2:c.C91T:p.L31L,NA,NA,NA,NA,NA,NA
chr19,17107960,17107960,C,A,R018_S,CPAMD8,Silent,NM_015692,exon11,c.G1056T,p.T352T,SNP,SNVindel,exonic,CPAMD8,NA,synonymous SNV,CPAMD8:NM_015692:exon11:c.G1056T:p.T352T,NA,NA,NA,NA,NA,NA
chr19,17107961,17107961,G,A,R018_S,CPAMD8,Missense_Mutation,NM_015692,exon11,c.C1055T,p.T352M,SNP,SNVindel,exonic,CPAMD8,NA,nonsynonymous SNV,CPAMD8:NM_015692:exon11:c.C1055T:p.T352M,D,D,D,T,D,T
chr19,17213064,17213064,G,A,R018_S,MYO9B,Silent,NM_001130065,exon2,c.G537A,p.A179A,SNP,SNVindel,exonic,MYO9B,NA,synonymous SNV,"MYO9B:NM_001130065:exon2:c.G537A:p.A179A,MYO9B:NM_004145:exon2:c.G537A:p.A179A",NA,NA,NA,NA,NA,NA
chr19,18084899,18084899,G,A,R018_S,KCNN1,Missense_Mutation,NM_002248,exon3,c.G202A,p.D68N,SNP,SNVindel,exonic,KCNN1,NA,nonsynonymous SNV,KCNN1:NM_002248:exon3:c.G202A:p.D68N,.,U,N,.,.,T
chr19,37310924,37310924,T,C,R018_S,ZNF790,Missense_Mutation,NM_001242800,exon5,c.A322G,p.K108E,SNP,SNVindel,exonic,ZNF790,NA,nonsynonymous SNV,"ZNF790:NM_001242800:exon5:c.A322G:p.K108E,ZNF790:NM_001242801:exon5:c.A322G:p.K108E,ZNF790:NM_001242802:exon5:c.A322G:p.K108E,ZNF790:NM_206894:exon5:c.A322G:p.K108E",T,.,N,T,N,T
chr19,43679379,43679379,C,A,R018_S,PSG5,Missense_Mutation,NM_001130014,exon4,c.G952T,p.V318F,SNP,SNVindel,exonic,PSG5,NA,nonsynonymous SNV,"PSG5:NM_001130014:exon4:c.G952T:p.V318F,PSG5:NM_002781:exon4:c.G952T:p.V318F",D,.,N,T,D,T
chr19,45719419,45719419,G,C,R018_S,EXOC3L2,Missense_Mutation,NM_138568,exon9,c.C853G,p.P285A,SNP,SNVindel,exonic,EXOC3L2,NA,nonsynonymous SNV,EXOC3L2:NM_138568:exon9:c.C853G:p.P285A,T,N,N,T,D,T
chr19,52115643,52115643,G,A,R018_S,SIGLEC5,Silent,NM_003830,exon9,c.C1497T,p.P499P,SNP,SNVindel,exonic,SIGLEC5,NA,synonymous SNV,SIGLEC5:NM_003830:exon9:c.C1497T:p.P499P,NA,NA,NA,NA,NA,NA
chr19,53770825,53770825,A,G,R018_S,VN1R4,Missense_Mutation,NM_173857,exon1,c.T94C,p.F32L,SNP,SNVindel,exonic,VN1R4,NA,nonsynonymous SNV,VN1R4:NM_173857:exon1:c.T94C:p.F32L,T,N,N,T,N,T
chr19,56515208,56515208,C,T,R018_S,NLRP5,Silent,NM_153447,exon2,c.C189T,p.Y63Y,SNP,SNVindel,exonic,NLRP5,NA,synonymous SNV,NLRP5:NM_153447:exon2:c.C189T:p.Y63Y,NA,NA,NA,NA,NA,NA
chr20,3017868,3017868,G,A,R018_S,PTPRA,Missense_Mutation,NM_080840,exon22,c.G2240A,p.G747E,SNP,SNVindel,exonic,PTPRA,NA,nonsynonymous SNV,"PTPRA:NM_080840:exon22:c.G2240A:p.G747E,PTPRA:NM_080841:exon22:c.G2240A:p.G747E,PTPRA:NM_002836:exon27:c.G2267A:p.G756E",D,U,D,D,D,D
chr20,50407509,50407509,C,T,R018_S,SALL4,Missense_Mutation,NM_020436,exon2,c.G1513A,p.G505S,SNP,SNVindel,exonic,SALL4,NA,nonsynonymous SNV,SALL4:NM_020436:exon2:c.G1513A:p.G505S,T,N,N,T,N,T
chr22,22324619,22324619,G,T,R018_S,TOP3B,Missense_Mutation,NM_001282112,exon6,c.C544A,p.Q182K,SNP,SNVindel,exonic,TOP3B,NA,nonsynonymous SNV,"TOP3B:NM_001282112:exon6:c.C544A:p.Q182K,TOP3B:NM_001282113:exon6:c.C544A:p.Q182K,TOP3B:NM_003935:exon6:c.C544A:p.Q182K,TOP3B:NM_001349845:exon7:c.C544A:p.Q182K,TOP3B:NM_001349847:exon7:c.C544A:p.Q182K,TOP3B:NM_001349848:exon7:c.C136A:p.Q46K,TOP3B:NM_001349851:exon7:c.C136A:p.Q46K,TOP3B:NM_001349850:exon8:c.C136A:p.Q46K,TOP3B:NM_001349852:exon8:c.C136A:p.Q46K",D,D,D,T,D,T
chr1,26658052,26658052,G,A,R019_F,CRYBG2,Silent,NM_001039775,exon15,c.C4242T,p.G1414G,SNP,SNVindel,exonic,CRYBG2,NA,synonymous SNV,CRYBG2:NM_001039775:exon15:c.C4242T:p.G1414G,NA,NA,NA,NA,NA,NA
chr1,152080572,152080572,T,A,R019_F,TCHH,Missense_Mutation,NM_007113,exon3,c.A5121T,p.R1707S,SNP,SNVindel,exonic,TCHH,NA,nonsynonymous SNV,TCHH:NM_007113:exon3:c.A5121T:p.R1707S,D,.,N,T,N,T
chr1,152081047,152081047,C,T,R019_F,TCHH,Missense_Mutation,NM_007113,exon3,c.G4646A,p.R1549Q,SNP,SNVindel,exonic,TCHH,NA,nonsynonymous SNV,TCHH:NM_007113:exon3:c.G4646A:p.R1549Q,T,.,N,T,N,T
chr2,85051138,85051138,G,A,R019_F,TRABD2A,Missense_Mutation,NM_001080824,exon5,c.C1126T,p.R376W,SNP,SNVindel,exonic,TRABD2A,NA,nonsynonymous SNV,"TRABD2A:NM_001080824:exon5:c.C1126T:p.R376W,TRABD2A:NM_001277053:exon6:c.C1273T:p.R425W",T,N,N,T,N,T
chr2,167055444,167055444,C,T,R019_F,SCN9A,Missense_Mutation,NM_001365536,exon27,c.G5705A,p.R1902H,SNP,SNVindel,exonic,SCN9A,NA,nonsynonymous SNV,"SCN9A:NM_001365536:exon27:c.G5705A:p.R1902H,SCN9A:NM_002977:exon27:c.G5672A:p.R1891H",T,N,D,D,N,D
chr4,57797807,57797807,C,T,R019_F,REST,Missense_Mutation,NM_001193508,exon4,c.C2783T,p.T928M,SNP,SNVindel,exonic,REST,NA,nonsynonymous SNV,"REST:NM_001193508:exon4:c.C2783T:p.T928M,REST:NM_001363453:exon4:c.C2783T:p.T928M,REST:NM_005612:exon4:c.C2783T:p.T928M",T,N,N,T,N,T
chr4,115997685,115997685,T,A,R019_F,NDST4,Missense_Mutation,NM_022569,exon2,c.A508T,p.N170Y,SNP,SNVindel,exonic,NDST4,NA,nonsynonymous SNV,NDST4:NM_022569:exon2:c.A508T:p.N170Y,T,D,D,T,D,T
chr4,187173239,187173239,C,A,R019_F,KLKB1,Missense_Mutation,NM_000892,exon11,c.C1213A,p.Q405K,SNP,SNVindel,exonic,KLKB1,NA,nonsynonymous SNV,"KLKB1:NM_000892:exon11:c.C1213A:p.Q405K,KLKB1:NM_001318396:exon11:c.C607A:p.Q203K,KLKB1:NM_001318394:exon12:c.C1099A:p.Q367K",D,D,D,D,D,D
chr5,57913622,57913622,C,T,R019_F,RAB3C,Silent,NM_001317915,exon2,c.C171T,p.F57F,SNP,SNVindel,exonic,RAB3C,NA,synonymous SNV,"RAB3C:NM_001317915:exon2:c.C171T:p.F57F,RAB3C:NM_138453:exon2:c.C177T:p.F59F",NA,NA,NA,NA,NA,NA
chr5,75428035,75428035,C,A,R019_F,SV2C,Missense_Mutation,NM_001297716,exon2,c.C460A,p.L154I,SNP,SNVindel,exonic,SV2C,NA,nonsynonymous SNV,"SV2C:NM_001297716:exon2:c.C460A:p.L154I,SV2C:NM_014979:exon2:c.C460A:p.L154I",T,D,D,T,N,T
chr5,161324208,161324208,C,T,R019_F,GABRA1,Missense_Mutation,NM_001127648,exon9,c.C1151T,p.P384L,SNP,SNVindel,exonic,GABRA1,NA,nonsynonymous SNV,"GABRA1:NM_001127648:exon9:c.C1151T:p.P384L,GABRA1:NM_001127644:exon10:c.C1151T:p.P384L,GABRA1:NM_001127645:exon10:c.C1151T:p.P384L,GABRA1:NM_000806:exon11:c.C1151T:p.P384L,GABRA1:NM_001127643:exon11:c.C1151T:p.P384L",T,D,D,D,N,T
chr6,51910930,51910930,C,T,R019_F,PKHD1,Missense_Mutation,NM_138694,exon24,c.G2464A,p.D822N,SNP,SNVindel,exonic,PKHD1,NA,nonsynonymous SNV,"PKHD1:NM_138694:exon24:c.G2464A:p.D822N,PKHD1:NM_170724:exon24:c.G2464A:p.D822N",T,N,N,D,D,T
chr7,22985627,22985627,G,A,R019_F,FAM126A,Missense_Mutation,NM_032581,exon11,c.C1147T,p.R383W,SNP,SNVindel,exonic,FAM126A,NA,nonsynonymous SNV,FAM126A:NM_032581:exon11:c.C1147T:p.R383W,D,D,D,T,D,D
chr7,38516566,38516566,G,A,R019_F,AMPH,Missense_Mutation,NM_001635,exon6,c.C400T,p.R134C,SNP,SNVindel,exonic,AMPH,NA,nonsynonymous SNV,"AMPH:NM_001635:exon6:c.C400T:p.R134C,AMPH:NM_139316:exon6:c.C400T:p.R134C",D,D,D,T,D,T
chr7,48287865,48287865,G,T,R019_F,ABCA13,Missense_Mutation,NM_152701,exon14,c.G1689T,p.W563C,SNP,SNVindel,exonic,ABCA13,NA,nonsynonymous SNV,ABCA13:NM_152701:exon14:c.G1689T:p.W563C,D,N,N,D,N,T
chr7,86415938,86415938,G,A,R019_F,GRM3,Missense_Mutation,NM_000840,exon3,c.G830A,p.R277H,SNP,SNVindel,exonic,GRM3,NA,nonsynonymous SNV,"GRM3:NM_000840:exon3:c.G830A:p.R277H,GRM3:NM_001363522:exon3:c.G830A:p.R277H",T,D,D,D,D,D
chr7,142572296,142572296,T,A,R019_F,TRPV6,Missense_Mutation,NM_018646,exon11,c.A1520T,p.Y507F,SNP,SNVindel,exonic,TRPV6,NA,nonsynonymous SNV,TRPV6:NM_018646:exon11:c.A1520T:p.Y507F,T,D,D,D,D,T
chr7,148768162,148768162,C,T,R019_F,ZNF786,Missense_Mutation,NM_152411,exon4,c.G1702A,p.G568R,SNP,SNVindel,exonic,ZNF786,NA,nonsynonymous SNV,ZNF786:NM_152411:exon4:c.G1702A:p.G568R,T,N,N,T,N,T
chr8,30701172,30701172,G,A,R019_F,TEX15,Nonsense_Mutation,NM_001350162,exon8,c.C6511T,p.R2171X,SNP,SNVindel,exonic,TEX15,NA,stopgain,TEX15:NM_001350162:exon8:c.C6511T:p.R2171X,.,N,A,.,.,.
chr8,123965254,123965254,A,C,R019_F,ZHX2,Missense_Mutation,NM_014943,exon3,c.A1504C,p.T502P,SNP,SNVindel,exonic,ZHX2,NA,nonsynonymous SNV,"ZHX2:NM_014943:exon3:c.A1504C:p.T502P,ZHX2:NM_001362797:exon4:c.A1504C:p.T502P",T,D,D,T,N,T
chr8,125110086,125110086,C,A,R019_F,FER1L6,Silent,NM_001039112,exon37,c.C4845A,p.I1615I,SNP,SNVindel,exonic,FER1L6,NA,synonymous SNV,FER1L6:NM_001039112:exon37:c.C4845A:p.I1615I,NA,NA,NA,NA,NA,NA
chr10,89711899,89711899,C,T,R019_F,PTEN,Missense_Mutation,NM_000314,exon6,c.C517T,p.R173C,SNP,SNVindel,exonic,PTEN,NA,nonsynonymous SNV,"PTEN:NM_000314:exon6:c.C517T:p.R173C,PTEN:NM_001304717:exon7:c.C1036T:p.R346C",D,D,D,D,D,D
chr11,88780659,88780659,G,A,R019_F,GRM5,Missense_Mutation,NM_001143831,exon1,c.C382T,p.R128C,SNP,SNVindel,exonic,GRM5,NA,nonsynonymous SNV,"GRM5:NM_001143831:exon1:c.C382T:p.R128C,GRM5:NM_000842:exon2:c.C382T:p.R128C",D,D,D,D,D,D
chr12,101480464,101480464,C,T,R019_F,ANO4,Silent,NM_001286616,exon16,c.C1563T,p.F521F,SNP,SNVindel,exonic,ANO4,NA,synonymous SNV,"ANO4:NM_001286616:exon16:c.C1563T:p.F521F,ANO4:NM_178826:exon16:c.C1458T:p.F486F,ANO4:NM_001286615:exon17:c.C1563T:p.F521F",NA,NA,NA,NA,NA,NA
chr14,100363508,100363508,G,A,R019_F,EML1,Missense_Mutation,NM_004434,exon7,c.G704A,p.R235H,SNP,SNVindel,exonic,EML1,NA,nonsynonymous SNV,"EML1:NM_004434:exon7:c.G704A:p.R235H,EML1:NM_001008707:exon8:c.G761A:p.R254H",D,D,D,T,D,D
chr15,78403609,78403609,C,T,R019_F,CIB2,Silent,NM_006383,exon3,c.G96A,p.S32S,SNP,SNVindel,exonic,CIB2,NA,synonymous SNV,CIB2:NM_006383:exon3:c.G96A:p.S32S,NA,NA,NA,NA,NA,NA
chr17,17697105,17697105,G,A,R019_F,RAI1,Silent,NM_030665,exon3,c.G843A,p.Q281Q,SNP,SNVindel,exonic,RAI1,NA,synonymous SNV,RAI1:NM_030665:exon3:c.G843A:p.Q281Q,NA,NA,NA,NA,NA,NA
chr17,48245006,48245006,G,A,R019_F,SGCA,Missense_Mutation,NM_000023,exon3,c.G221A,p.R74Q,SNP,SNVindel,exonic,SGCA,NA,nonsynonymous SNV,"SGCA:NM_000023:exon3:c.G221A:p.R74Q,SGCA:NM_001135697:exon3:c.G221A:p.R74Q",T,N,D,D,N,D
chr19,50462137,50462137,C,A,R019_F,SIGLEC11,Missense_Mutation,NM_001135163,exon7,c.G1126T,p.G376C,SNP,SNVindel,exonic,SIGLEC11,NA,nonsynonymous SNV,"SIGLEC11:NM_001135163:exon7:c.G1126T:p.G376C,SIGLEC11:NM_052884:exon7:c.G1126T:p.G376C",T,N,N,T,D,T
chr19,51329907,51329907,G,A,R019_F,KLK15,Silent,NM_001277081,exon4,c.C585T,p.G195G,SNP,SNVindel,exonic,KLK15,NA,synonymous SNV,"KLK15:NM_001277081:exon4:c.C585T:p.G195G,KLK15:NM_017509:exon4:c.C588T:p.G196G",NA,NA,NA,NA,NA,NA
chr19,55814187,55814187,G,C,R019_F,BRSK1,Missense_Mutation,NM_032430,exon10,c.G980C,p.G327A,SNP,SNVindel,exonic,BRSK1,NA,nonsynonymous SNV,BRSK1:NM_032430:exon10:c.G980C:p.G327A,T,D,D,T,D,D
chr20,30745712,30745712,G,A,R019_F,TM9SF4,Missense_Mutation,NM_001363731,exon14,c.G1394A,p.R465H,SNP,SNVindel,exonic,TM9SF4,NA,nonsynonymous SNV,"TM9SF4:NM_001363731:exon14:c.G1394A:p.R465H,TM9SF4:NM_014742:exon14:c.G1445A:p.R482H",D,D,D,T,D,T
chr20,54824428,54824428,G,A,R019_F,MC3R,Missense_Mutation,NM_019888,exon1,c.G529A,p.V177M,SNP,SNVindel,exonic,MC3R,NA,nonsynonymous SNV,MC3R:NM_019888:exon1:c.G529A:p.V177M,D,N,D,T,N,T
chrX,71821869,71821869,C,T,R019_F,PHKA1,Missense_Mutation,NM_002637,exon28,c.G3044A,p.R1015H,SNP,SNVindel,exonic,PHKA1,NA,nonsynonymous SNV,PHKA1:NM_002637:exon28:c.G3044A:p.R1015H,T,N,D,D,N,T
chr1,20246829,20246829,G,A,R019_S,PLA2G2E,Silent,NM_014589,exon4,c.C400T,p.L134L,SNP,SNVindel,exonic,PLA2G2E,NA,synonymous SNV,PLA2G2E:NM_014589:exon4:c.C400T:p.L134L,NA,NA,NA,NA,NA,NA
chr1,26658052,26658052,G,A,R019_S,CRYBG2,Silent,NM_001039775,exon15,c.C4242T,p.G1414G,SNP,SNVindel,exonic,CRYBG2,NA,synonymous SNV,CRYBG2:NM_001039775:exon15:c.C4242T:p.G1414G,NA,NA,NA,NA,NA,NA
chr1,26671625,26671625,A,G,R019_S,CRYBG2,Silent,NM_001039775,exon2,c.T1524C,p.S508S,SNP,SNVindel,exonic,CRYBG2,NA,synonymous SNV,CRYBG2:NM_001039775:exon2:c.T1524C:p.S508S,NA,NA,NA,NA,NA,NA
chr1,152081047,152081047,C,T,R019_S,TCHH,Missense_Mutation,NM_007113,exon3,c.G4646A,p.R1549Q,SNP,SNVindel,exonic,TCHH,NA,nonsynonymous SNV,TCHH:NM_007113:exon3:c.G4646A:p.R1549Q,T,.,N,T,N,T
chr1,248344068,248344068,C,T,R019_S,OR2M2,Missense_Mutation,NM_001004688,exon1,c.C781T,p.R261W,SNP,SNVindel,exonic,OR2M2,NA,nonsynonymous SNV,OR2M2:NM_001004688:exon1:c.C781T:p.R261W,D,U,N,T,D,T
chr2,54133997,54133997,C,G,R019_S,PSME4,Silent,NM_014614,exon25,c.G2793C,p.G931G,SNP,SNVindel,exonic,PSME4,NA,synonymous SNV,PSME4:NM_014614:exon25:c.G2793C:p.G931G,NA,NA,NA,NA,NA,NA
chr2,85051138,85051138,G,A,R019_S,TRABD2A,Missense_Mutation,NM_001080824,exon5,c.C1126T,p.R376W,SNP,SNVindel,exonic,TRABD2A,NA,nonsynonymous SNV,"TRABD2A:NM_001080824:exon5:c.C1126T:p.R376W,TRABD2A:NM_001277053:exon6:c.C1273T:p.R425W",T,N,N,T,N,T
chr2,149227095,149227095,G,T,R019_S,MBD5,Missense_Mutation,NM_018328,exon9,c.G1583T,p.G528V,SNP,SNVindel,exonic,MBD5,NA,nonsynonymous SNV,MBD5:NM_018328:exon9:c.G1583T:p.G528V,D,D,D,T,N,T
chr2,167055444,167055444,C,T,R019_S,SCN9A,Missense_Mutation,NM_001365536,exon27,c.G5705A,p.R1902H,SNP,SNVindel,exonic,SCN9A,NA,nonsynonymous SNV,"SCN9A:NM_001365536:exon27:c.G5705A:p.R1902H,SCN9A:NM_002977:exon27:c.G5672A:p.R1891H",T,N,D,D,N,D
chr2,169792819,169792819,G,T,R019_S,ABCB11,Missense_Mutation,NM_003742,exon22,c.C2735A,p.A912D,SNP,SNVindel,exonic,ABCB11,NA,nonsynonymous SNV,ABCB11:NM_003742:exon22:c.C2735A:p.A912D,D,D,D,D,D,D
chr3,97983628,97983628,G,C,R019_S,OR5H6,Missense_Mutation,NM_001005479,exon1,c.G452C,p.G151A,SNP,SNVindel,exonic,OR5H6,NA,nonsynonymous SNV,OR5H6:NM_001005479:exon1:c.G452C:p.G151A,T,N,N,T,N,T
chr4,57797807,57797807,C,T,R019_S,REST,Missense_Mutation,NM_001193508,exon4,c.C2783T,p.T928M,SNP,SNVindel,exonic,REST,NA,nonsynonymous SNV,"REST:NM_001193508:exon4:c.C2783T:p.T928M,REST:NM_001363453:exon4:c.C2783T:p.T928M,REST:NM_005612:exon4:c.C2783T:p.T928M",T,N,N,T,N,T
chr4,79428583,79428583,C,G,R019_S,FRAS1,Missense_Mutation,NM_025074,exon62,c.C9325G,p.H3109D,SNP,SNVindel,exonic,FRAS1,NA,nonsynonymous SNV,FRAS1:NM_025074:exon62:c.C9325G:p.H3109D,.,D,D,.,.,T
chr5,57913622,57913622,C,T,R019_S,RAB3C,Silent,NM_001317915,exon2,c.C171T,p.F57F,SNP,SNVindel,exonic,RAB3C,NA,synonymous SNV,"RAB3C:NM_001317915:exon2:c.C171T:p.F57F,RAB3C:NM_138453:exon2:c.C177T:p.F59F",NA,NA,NA,NA,NA,NA
chr6,11191021,11191021,A,G,R019_S,NEDD9,Silent,NM_001271033,exon4,c.T634C,p.L212L,SNP,SNVindel,exonic,NEDD9,NA,synonymous SNV,"NEDD9:NM_001271033:exon4:c.T634C:p.L212L,NEDD9:NM_006403:exon5:c.T1081C:p.L361L,NEDD9:NM_001142393:exon6:c.T1081C:p.L361L",NA,NA,NA,NA,NA,NA
chr6,51910930,51910930,C,T,R019_S,PKHD1,Missense_Mutation,NM_138694,exon24,c.G2464A,p.D822N,SNP,SNVindel,exonic,PKHD1,NA,nonsynonymous SNV,"PKHD1:NM_138694:exon24:c.G2464A:p.D822N,PKHD1:NM_170724:exon24:c.G2464A:p.D822N",T,N,N,D,D,T
chr7,22533023,22533023,C,G,R019_S,STEAP1B,Missense_Mutation,NM_001164460,exon3,c.G517C,p.V173L,SNP,SNVindel,exonic,STEAP1B,NA,nonsynonymous SNV,"STEAP1B:NM_001164460:exon3:c.G517C:p.V173L,STEAP1B:NM_207342:exon3:c.G460C:p.V154L",T,U,N,D,N,T
chr7,22985627,22985627,G,A,R019_S,FAM126A,Missense_Mutation,NM_032581,exon11,c.C1147T,p.R383W,SNP,SNVindel,exonic,FAM126A,NA,nonsynonymous SNV,FAM126A:NM_032581:exon11:c.C1147T:p.R383W,D,D,D,T,D,D
chr7,44620818,44620818,C,T,R019_S,TMED4,Silent,NM_001303060,exon3,c.G231A,p.Q77Q,SNP,SNVindel,exonic,TMED4,NA,synonymous SNV,"TMED4:NM_001303060:exon3:c.G231A:p.Q77Q,TMED4:NM_001303062:exon3:c.G231A:p.Q77Q,TMED4:NM_001303058:exon4:c.G408A:p.Q136Q,TMED4:NM_001303061:exon4:c.G231A:p.Q77Q,TMED4:NM_182547:exon4:c.G408A:p.Q136Q",NA,NA,NA,NA,NA,NA
chr7,142572296,142572296,T,A,R019_S,TRPV6,Missense_Mutation,NM_018646,exon11,c.A1520T,p.Y507F,SNP,SNVindel,exonic,TRPV6,NA,nonsynonymous SNV,TRPV6:NM_018646:exon11:c.A1520T:p.Y507F,T,D,D,D,D,T
chr7,144062310,144062310,G,A,R019_S,ARHGEF5,Missense_Mutation,NM_005435,exon2,c.G2548A,p.E850K,SNP,SNVindel,exonic,ARHGEF5,NA,nonsynonymous SNV,ARHGEF5:NM_005435:exon2:c.G2548A:p.E850K,T,N,N,T,N,T
chr8,30701172,30701172,G,A,R019_S,TEX15,Nonsense_Mutation,NM_001350162,exon8,c.C6511T,p.R2171X,SNP,SNVindel,exonic,TEX15,NA,stopgain,TEX15:NM_001350162:exon8:c.C6511T:p.R2171X,.,N,A,.,.,.
chr10,75434715,75434715,C,T,R019_S,AGAP5,Missense_Mutation,NM_001144000,exon8,c.G1703A,p.R568H,SNP,SNVindel,exonic,AGAP5,NA,nonsynonymous SNV,AGAP5:NM_001144000:exon8:c.G1703A:p.R568H,T,N,D,T,D,T
chr10,89711899,89711899,C,T,R019_S,PTEN,Missense_Mutation,NM_000314,exon6,c.C517T,p.R173C,SNP,SNVindel,exonic,PTEN,NA,nonsynonymous SNV,"PTEN:NM_000314:exon6:c.C517T:p.R173C,PTEN:NM_001304717:exon7:c.C1036T:p.R346C",D,D,D,D,D,D
chr11,1093512,1093512,C,A,R019_S,MUC2,Silent,NM_002457,exon31,c.C5331A,p.T1777T,SNP,SNVindel,exonic,MUC2,NA,synonymous SNV,MUC2:NM_002457:exon31:c.C5331A:p.T1777T,NA,NA,NA,NA,NA,NA
chr11,1212966,1212966,C,A,R019_S,MUC5AC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,MUC5AC,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr11,1651199,1651199,A,G,R019_S,KRTAP5-5,Silent,NM_001001480,exon1,c.A129G,p.G43G,SNP,SNVindel,exonic,KRTAP5-5,NA,synonymous SNV,KRTAP5-5:NM_001001480:exon1:c.A129G:p.G43G,NA,NA,NA,NA,NA,NA
chr11,57886319,57886319,T,C,R019_S,OR9I1,Missense_Mutation,NM_001005211,exon1,c.A598G,p.I200V,SNP,SNVindel,exonic,OR9I1,NA,nonsynonymous SNV,OR9I1:NM_001005211:exon1:c.A598G:p.I200V,T,N,N,T,N,T
chr11,88780659,88780659,G,A,R019_S,GRM5,Missense_Mutation,NM_001143831,exon1,c.C382T,p.R128C,SNP,SNVindel,exonic,GRM5,NA,nonsynonymous SNV,"GRM5:NM_001143831:exon1:c.C382T:p.R128C,GRM5:NM_000842:exon2:c.C382T:p.R128C",D,D,D,D,D,D
chr11,111594250,111594250,G,A,R019_S,SIK2,Silent,NM_015191,exon15,c.G2178A,p.K726K,SNP,SNVindel,exonic,SIK2,NA,synonymous SNV,SIK2:NM_015191:exon15:c.G2178A:p.K726K,NA,NA,NA,NA,NA,NA
chr11,124293864,124293864,T,C,R019_S,OR8B4,Missense_Mutation,NM_001005196,exon1,c.A904G,p.K302E,SNP,SNVindel,exonic,OR8B4,NA,nonsynonymous SNV,OR8B4:NM_001005196:exon1:c.A904G:p.K302E,D,D,N,T,D,T
chr12,43792896,43792896,A,G,R019_S,ADAMTS20,Silent,NM_025003,exon29,c.T4425C,p.P1475P,SNP,SNVindel,exonic,ADAMTS20,NA,synonymous SNV,ADAMTS20:NM_025003:exon29:c.T4425C:p.P1475P,NA,NA,NA,NA,NA,NA
chr12,101480464,101480464,C,T,R019_S,ANO4,Silent,NM_001286616,exon16,c.C1563T,p.F521F,SNP,SNVindel,exonic,ANO4,NA,synonymous SNV,"ANO4:NM_001286616:exon16:c.C1563T:p.F521F,ANO4:NM_178826:exon16:c.C1458T:p.F486F,ANO4:NM_001286615:exon17:c.C1563T:p.F521F",NA,NA,NA,NA,NA,NA
chr14,100363508,100363508,G,A,R019_S,EML1,Missense_Mutation,NM_004434,exon7,c.G704A,p.R235H,SNP,SNVindel,exonic,EML1,NA,nonsynonymous SNV,"EML1:NM_004434:exon7:c.G704A:p.R235H,EML1:NM_001008707:exon8:c.G761A:p.R254H",D,D,D,T,D,D
chr15,23690510,23690510,T,G,R019_S,GOLGA6L2,Missense_Mutation,NM_001304388,exon2,c.A160C,p.N54H,SNP,SNVindel,exonic,GOLGA6L2,NA,nonsynonymous SNV,GOLGA6L2:NM_001304388:exon2:c.A160C:p.N54H,.,.,P,T,D,T
chr15,65891247,65891247,C,T,R019_S,INTS14,Missense_Mutation,NM_001207059,exon4,c.G331A,p.G111S,SNP,SNVindel,exonic,INTS14,NA,nonsynonymous SNV,"INTS14:NM_001207059:exon4:c.G331A:p.G111S,INTS14:NM_001136043:exon5:c.G331A:p.G111S,INTS14:NM_001207058:exon5:c.G421A:p.G141S,INTS14:NM_001366360:exon5:c.G568A:p.G190S,INTS14:NM_001366364:exon5:c.G331A:p.G111S,INTS14:NM_001366365:exon5:c.G331A:p.G111S",T,D,D,.,N,T
chr15,78403609,78403609,C,T,R019_S,CIB2,Silent,NM_006383,exon3,c.G96A,p.S32S,SNP,SNVindel,exonic,CIB2,NA,synonymous SNV,CIB2:NM_006383:exon3:c.G96A:p.S32S,NA,NA,NA,NA,NA,NA
chr15,89398175,89398175,C,G,R019_S,ACAN,Missense_Mutation,NM_001135,exon12,c.C2359G,p.P787A,SNP,SNVindel,exonic,ACAN,NA,nonsynonymous SNV,"ACAN:NM_001135:exon12:c.C2359G:p.P787A,ACAN:NM_001369268:exon12:c.C2359G:p.P787A,ACAN:NM_013227:exon12:c.C2359G:p.P787A",D,.,D,T,D,T
chr16,1306347,1306347,G,C,R019_S,TPSD1,Silent,NM_012217,exon1,c.G66C,p.P22P,SNP,SNVindel,exonic,TPSD1,NA,synonymous SNV,TPSD1:NM_012217:exon1:c.G66C:p.P22P,NA,NA,NA,NA,NA,NA
chr17,39274291,39274291,T,C,R019_S,KRTAP4-11,Missense_Mutation,NM_033059,exon1,c.A277G,p.M93V,SNP,SNVindel,exonic,KRTAP4-11,NA,nonsynonymous SNV,KRTAP4-11:NM_033059:exon1:c.A277G:p.M93V,T,.,N,T,N,T
chr19,501701,501701,G,A,R019_S,MADCAM1,Missense_Mutation,NM_130760,exon4,c.G700A,p.D234N,SNP,SNVindel,exonic,MADCAM1,NA,nonsynonymous SNV,MADCAM1:NM_130760:exon4:c.G700A:p.D234N,T,N,P,T,N,T
chr19,4361738,4361738,G,A,R019_S,SH3GL1,Silent,NM_001199943,exon9,c.C822T,p.D274D,SNP,SNVindel,exonic,SH3GL1,NA,synonymous SNV,"SH3GL1:NM_001199943:exon9:c.C822T:p.D274D,SH3GL1:NM_001199944:exon10:c.C774T:p.D258D,SH3GL1:NM_003025:exon10:c.C966T:p.D322D",NA,NA,NA,NA,NA,NA
chr19,51329907,51329907,G,A,R019_S,KLK15,Silent,NM_001277081,exon4,c.C585T,p.G195G,SNP,SNVindel,exonic,KLK15,NA,synonymous SNV,"KLK15:NM_001277081:exon4:c.C585T:p.G195G,KLK15:NM_017509:exon4:c.C588T:p.G196G",NA,NA,NA,NA,NA,NA
chr19,55814187,55814187,G,C,R019_S,BRSK1,Missense_Mutation,NM_032430,exon10,c.G980C,p.G327A,SNP,SNVindel,exonic,BRSK1,NA,nonsynonymous SNV,BRSK1:NM_032430:exon10:c.G980C:p.G327A,T,D,D,T,D,D
chr20,30745712,30745712,G,A,R019_S,TM9SF4,Missense_Mutation,NM_001363731,exon14,c.G1394A,p.R465H,SNP,SNVindel,exonic,TM9SF4,NA,nonsynonymous SNV,"TM9SF4:NM_001363731:exon14:c.G1394A:p.R465H,TM9SF4:NM_014742:exon14:c.G1445A:p.R482H",D,D,D,T,D,T
chr20,54824428,54824428,G,A,R019_S,MC3R,Missense_Mutation,NM_019888,exon1,c.G529A,p.V177M,SNP,SNVindel,exonic,MC3R,NA,nonsynonymous SNV,MC3R:NM_019888:exon1:c.G529A:p.V177M,D,N,D,T,N,T
chrX,71821869,71821869,C,T,R019_S,PHKA1,Missense_Mutation,NM_002637,exon28,c.G3044A,p.R1015H,SNP,SNVindel,exonic,PHKA1,NA,nonsynonymous SNV,PHKA1:NM_002637:exon28:c.G3044A:p.R1015H,T,N,D,D,N,T
chr1,197073797,197073801,CTTTC,-,P237167_F,ASPM,Frame_Shift_Del,NM_018136,exon18,c.4580_4584del,p.G1527Dfs*2,DEL,SNVindel,exonic,ASPM,NA,frameshift deletion,ASPM:NM_018136:exon18:c.4580_4584del:p.G1527Dfs*2,NA,NA,NA,NA,NA,NA
chr2,20870506,20870506,-,C,P237167_F,GDF7,Frame_Shift_Ins,NM_182828,exon2,c.675dupC,p.R228Pfs*258,SNP,SNVindel,exonic,GDF7,NA,frameshift insertion,GDF7:NM_182828:exon2:c.675dupC:p.R228Pfs*258,NA,NA,NA,NA,NA,NA
chr2,233697764,233697766,GCA,-,P237167_F,GIGYF2,In_Frame_Del,NM_001103148,exon21,c.2709_2711del,p.Q911del,DEL,SNVindel,exonic,GIGYF2,NA,nonframeshift deletion,"GIGYF2:NM_001103148:exon21:c.2709_2711del:p.Q911del,GIGYF2:NM_001103146:exon22:c.2727_2729del:p.Q917del,GIGYF2:NM_001103147:exon24:c.2790_2792del:p.Q938del,GIGYF2:NM_015575:exon24:c.2727_2729del:p.Q917del",NA,NA,NA,NA,NA,NA
chr3,69097471,69097473,CTT,-,P237167_F,TMF1,In_Frame_Del,NM_001363879,exon2,c.383_385del,p.E128del,DEL,SNVindel,exonic,TMF1,NA,nonframeshift deletion,"TMF1:NM_001363879:exon2:c.383_385del:p.E128del,TMF1:NM_007114:exon2:c.383_385del:p.E128del",NA,NA,NA,NA,NA,NA
chr4,48494963,48494966,CAAA,-,P237167_F,ZAR1,Frame_Shift_Del,NM_175619,exon3,c.1065_1068del,p.K356Sfs*32,DEL,SNVindel,exonic,ZAR1,NA,frameshift deletion,ZAR1:NM_175619:exon3:c.1065_1068del:p.K356Sfs*32,NA,NA,NA,NA,NA,NA
chr6,26056588,26056590,CTT,-,P237167_F,HIST1H1C,In_Frame_Del,NM_005319,exon1,c.67_69del,p.K23del,DEL,SNVindel,exonic,HIST1H1C,NA,nonframeshift deletion,HIST1H1C:NM_005319:exon1:c.67_69del:p.K23del,NA,NA,NA,NA,NA,NA
chr8,121824055,121824057,GCC,-,P237167_F,SNTB1,In_Frame_Del,NM_021021,exon1,c.27_29del,p.A10del,DEL,SNVindel,exonic,SNTB1,NA,nonframeshift deletion,SNTB1:NM_021021:exon1:c.27_29del:p.A10del,NA,NA,NA,NA,NA,NA
chr10,95422915,95422917,AAG,-,P237167_F,PDE6C,In_Frame_Del,NM_006204,exon21,c.2498_2500del,p.E834del,DEL,SNVindel,exonic,PDE6C,NA,nonframeshift deletion,PDE6C:NM_006204:exon21:c.2498_2500del:p.E834del,NA,NA,NA,NA,NA,NA
chr12,122748169,122748169,A,-,P237167_F,VPS33A,Frame_Shift_Del,NM_001351018,exon3,c.213delT,p.F71Lfs*6,SNP,SNVindel,exonic,VPS33A,NA,frameshift deletion,"VPS33A:NM_001351018:exon3:c.213delT:p.F71Lfs*6,VPS33A:NM_001351019:exon3:c.198delT:p.F66Lfs*6,VPS33A:NM_001351020:exon3:c.246delT:p.F82Lfs*6,VPS33A:NM_001351021:exon3:c.246delT:p.F82Lfs*6,VPS33A:NM_022916:exon3:c.246delT:p.F82Lfs*6",NA,NA,NA,NA,NA,NA
chr15,81235294,81235296,GAA,-,P237167_F,CEMIP,In_Frame_Del,NM_018689,exon27,c.3708_3710del,p.K1238del,DEL,SNVindel,exonic,CEMIP,NA,nonframeshift deletion,"CEMIP:NM_018689:exon27:c.3708_3710del:p.K1238del,CEMIP:NM_001293298:exon28:c.3708_3710del:p.K1238del,CEMIP:NM_001293304:exon28:c.3708_3710del:p.K1238del",NA,NA,NA,NA,NA,NA
chr15,89861820,89861822,TCC,-,P237167_F,POLG,In_Frame_Del,NM_001126131,exon21,c.3432_3434del,p.E1144del,DEL,SNVindel,exonic,POLG,NA,nonframeshift deletion,"POLG:NM_001126131:exon21:c.3432_3434del:p.E1144del,POLG:NM_002693:exon21:c.3432_3434del:p.E1144del",NA,NA,NA,NA,NA,NA
chr16,30939203,30939203,-,C,P237167_F,FBXL19,Frame_Shift_Ins,NM_001099784,exon5,c.607dupC,p.E206Gfs*17,SNP,SNVindel,exonic,FBXL19,NA,frameshift insertion,FBXL19:NM_001099784:exon5:c.607dupC:p.E206Gfs*17,NA,NA,NA,NA,NA,NA
chr16,67876824,67876826,CAG,-,P237167_F,THAP11,In_Frame_Del,NM_020457,exon1,c.367_369del,p.Q132del,DEL,SNVindel,exonic,THAP11,NA,nonframeshift deletion,THAP11:NM_020457:exon1:c.367_369del:p.Q132del,NA,NA,NA,NA,NA,NA
chr16,86544211,86544213,CGG,-,P237167_F,FOXF1,In_Frame_Del,NM_001451,exon1,c.36_38del,p.G23del,DEL,SNVindel,exonic,FOXF1,NA,nonframeshift deletion,FOXF1:NM_001451:exon1:c.36_38del:p.G23del,NA,NA,NA,NA,NA,NA
chrX,76938099,76938100,TT,-,P237167_F,ATRX,Frame_Shift_Del,NM_138270,exon8,c.2534_2535del,p.Q845Rfs*13,DEL,SNVindel,exonic,ATRX,NA,frameshift deletion,"ATRX:NM_138270:exon8:c.2534_2535del:p.Q845Rfs*13,ATRX:NM_000489:exon9:c.2648_2649del:p.Q883Rfs*13",NA,NA,NA,NA,NA,NA
chr1,52981599,52981601,TTC,-,P237167_S,TUT4,In_Frame_Del,NM_001009881,exon3,c.844_846del,p.E282del,DEL,SNVindel,exonic,TUT4,NA,nonframeshift deletion,"TUT4:NM_001009881:exon3:c.844_846del:p.E282del,TUT4:NM_015269:exon3:c.844_846del:p.E282del",NA,NA,NA,NA,NA,NA
chr2,172549339,172549339,A,-,P237167_S,DYNC1I2,Frame_Shift_Del,NM_001271785,exon3,c.161delA,p.R57Gfs*13,SNP,SNVindel,exonic,DYNC1I2,NA,frameshift deletion,"DYNC1I2:NM_001271785:exon3:c.161delA:p.R57Gfs*13,DYNC1I2:NM_001271786:exon3:c.161delA:p.R57Gfs*13,DYNC1I2:NM_001271787:exon3:c.161delA:p.R57Gfs*13,DYNC1I2:NM_001271788:exon3:c.161delA:p.R57Gfs*13,DYNC1I2:NM_001271789:exon3:c.161delA:p.R57Gfs*13,DYNC1I2:NM_001271790:exon3:c.161delA:p.R57Gfs*13,DYNC1I2:NM_001320882:exon3:c.161delA:p.R57Gfs*13,DYNC1I2:NM_001320883:exon3:c.161delA:p.R57Gfs*13,DYNC1I2:NM_001320884:exon3:c.161delA:p.R57Gfs*13,DYNC1I2:NM_001378:exon3:c.161delA:p.R57Gfs*13",NA,NA,NA,NA,NA,NA
chr3,58486721,58486722,TC,-,P237167_S,KCTD6,Frame_Shift_Del,NM_153331,exon2,c.76_77del,p.L27Hfs*32,DEL,SNVindel,exonic,KCTD6,NA,frameshift deletion,"KCTD6:NM_153331:exon2:c.76_77del:p.L27Hfs*32,KCTD6:NM_001128214:exon3:c.76_77del:p.L27Hfs*32",NA,NA,NA,NA,NA,NA
chr4,25678148,25678150,GCT,-,P237167_S,SLC34A2,In_Frame_Del,NM_001177998,exon13,c.1847_1849del,p.C621del,DEL,SNVindel,exonic,SLC34A2,NA,nonframeshift deletion,"SLC34A2:NM_001177998:exon13:c.1847_1849del:p.C621del,SLC34A2:NM_001177999:exon13:c.1847_1849del:p.C621del,SLC34A2:NM_006424:exon13:c.1850_1852del:p.C622del",NA,NA,NA,NA,NA,NA
chr4,159627357,159627358,AT,-,P237167_S,ETFDH,Nonsense_Mutation,NM_001281738,exon9,c.1119_1120del,p.Y374*,DEL,SNVindel,exonic,ETFDH,NA,stopgain,"ETFDH:NM_001281738:exon9:c.1119_1120del:p.Y374*,ETFDH:NM_001281737:exon10:c.1161_1162del:p.Y388*,ETFDH:NM_004453:exon11:c.1302_1303del:p.Y435*",NA,NA,NA,NA,NA,NA
chr5,67589610,67589612,AAA,-,P237167_S,PIK3R1,In_Frame_Del,NM_001242466,exon4,c.284_286del,p.K96del,DEL,SNVindel,exonic,PIK3R1,NA,nonframeshift deletion,"PIK3R1:NM_001242466:exon4:c.284_286del:p.K96del,PIK3R1:NM_181504:exon5:c.563_565del:p.K189del,PIK3R1:NM_181524:exon5:c.473_475del:p.K159del,PIK3R1:NM_181523:exon11:c.1373_1375del:p.K459del",NA,NA,NA,NA,NA,NA
chr6,87971035,87971037,AAG,-,P237167_S,ZNF292,In_Frame_Del,NM_015021,exon8,c.7688_7690del,p.E2566del,DEL,SNVindel,exonic,ZNF292,NA,nonframeshift deletion,"ZNF292:NM_015021:exon8:c.7688_7690del:p.E2566del,ZNF292:NM_001351444:exon9:c.7268_7270del:p.E2426del",NA,NA,NA,NA,NA,NA
chr6,87971370,87971371,AA,-,P237167_S,ZNF292,Frame_Shift_Del,NM_015021,exon8,c.8023_8024del,p.K2675Rfs*4,DEL,SNVindel,exonic,ZNF292,NA,frameshift deletion,"ZNF292:NM_015021:exon8:c.8023_8024del:p.K2675Rfs*4,ZNF292:NM_001351444:exon9:c.7603_7604del:p.K2535Rfs*4",NA,NA,NA,NA,NA,NA
chr6,149826796,149826798,TTC,-,P237167_S,PPIL4,In_Frame_Del,NM_139126,exon13,c.1270_1272del,p.E424del,DEL,SNVindel,exonic,PPIL4,NA,nonframeshift deletion,PPIL4:NM_139126:exon13:c.1270_1272del:p.E424del,NA,NA,NA,NA,NA,NA
chr7,116955171,116955175,TCCTT,-,P237167_S,WNT2,Frame_Shift_Del,NM_003391,exon3,c.538_542del,p.K180Cfs*76,DEL,SNVindel,exonic,WNT2,NA,frameshift deletion,WNT2:NM_003391:exon3:c.538_542del:p.K180Cfs*76,NA,NA,NA,NA,NA,NA
chr9,99694459,99694461,CCA,-,P237167_S,NUTM2G,In_Frame_Del,NM_001045477,exon2,c.472_474del,p.P162del,DEL,SNVindel,exonic,NUTM2G,NA,nonframeshift deletion,"NUTM2G:NM_001045477:exon2:c.472_474del:p.P162del,NUTM2G:NM_001170741:exon2:c.472_474del:p.P162del",NA,NA,NA,NA,NA,NA
chr10,95422915,95422917,AAG,-,P237167_S,PDE6C,In_Frame_Del,NM_006204,exon21,c.2498_2500del,p.E834del,DEL,SNVindel,exonic,PDE6C,NA,nonframeshift deletion,PDE6C:NM_006204:exon21:c.2498_2500del:p.E834del,NA,NA,NA,NA,NA,NA
chr12,56559113,56559113,G,-,P237167_S,SMARCC2,Frame_Shift_Del,NM_003075,exon26,c.3128delC,p.P1043Lfs*18,SNP,SNVindel,exonic,SMARCC2,NA,frameshift deletion,"SMARCC2:NM_003075:exon26:c.3128delC:p.P1043Lfs*18,SMARCC2:NM_001130420:exon27:c.3221delC:p.P1074Lfs*18,SMARCC2:NM_001330288:exon27:c.3221delC:p.P1074Lfs*18,SMARCC2:NM_139067:exon27:c.3221delC:p.P1074Lfs*18",NA,NA,NA,NA,NA,NA
chr15,42003383,42003385,CAG,-,P237167_S,MGA,In_Frame_Del,NM_001080541,exon8,c.2920_2922del,p.Q981del,DEL,SNVindel,exonic,MGA,NA,nonframeshift deletion,"MGA:NM_001080541:exon8:c.2920_2922del:p.Q981del,MGA:NM_001164273:exon8:c.2920_2922del:p.Q981del",NA,NA,NA,NA,NA,NA
chr15,78486986,78486987,CA,-,P237167_S,ACSBG1,Frame_Shift_Del,NM_001199377,exon3,c.314_315del,p.V105Afs*10,DEL,SNVindel,exonic,ACSBG1,NA,frameshift deletion,"ACSBG1:NM_001199377:exon3:c.314_315del:p.V105Afs*10,ACSBG1:NM_015162:exon3:c.314_315del:p.V105Afs*10",NA,NA,NA,NA,NA,NA
chr15,81235294,81235296,GAA,-,P237167_S,CEMIP,In_Frame_Del,NM_018689,exon27,c.3708_3710del,p.K1238del,DEL,SNVindel,exonic,CEMIP,NA,nonframeshift deletion,"CEMIP:NM_018689:exon27:c.3708_3710del:p.K1238del,CEMIP:NM_001293298:exon28:c.3708_3710del:p.K1238del,CEMIP:NM_001293304:exon28:c.3708_3710del:p.K1238del",NA,NA,NA,NA,NA,NA
chr15,89861820,89861822,TCC,-,P237167_S,POLG,In_Frame_Del,NM_001126131,exon21,c.3432_3434del,p.E1144del,DEL,SNVindel,exonic,POLG,NA,nonframeshift deletion,"POLG:NM_001126131:exon21:c.3432_3434del:p.E1144del,POLG:NM_002693:exon21:c.3432_3434del:p.E1144del",NA,NA,NA,NA,NA,NA
chr16,51175656,51175658,GCT,-,P237167_S,SALL1,In_Frame_Del,NM_001127892,exon2,c.184_186del,p.S62del,DEL,SNVindel,exonic,SALL1,NA,nonframeshift deletion,"SALL1:NM_001127892:exon2:c.184_186del:p.S62del,SALL1:NM_002968:exon2:c.475_477del:p.S159del",NA,NA,NA,NA,NA,NA
chr17,28505166,28505166,-,A,P237167_S,NSRP1,Frame_Shift_Ins,NM_001261467,exon3,c.88dupA,p.E33Gfs*4,SNP,SNVindel,exonic,NSRP1,NA,frameshift insertion,"NSRP1:NM_001261467:exon3:c.88dupA:p.E33Gfs*4,NSRP1:NM_032141:exon4:c.250dupA:p.E87Gfs*4",NA,NA,NA,NA,NA,NA
chr19,35757845,35757845,C,-,P237167_S,LSR,Frame_Shift_Del,NM_001260490,exon5,c.939delC,p.S316Vfs*8,SNP,SNVindel,exonic,LSR,NA,frameshift deletion,"LSR:NM_001260490:exon5:c.939delC:p.S316Vfs*8,LSR:NM_205835:exon6:c.1059delC:p.S356Vfs*8,LSR:NM_001260489:exon7:c.1203delC:p.S404Vfs*8,LSR:NM_015925:exon7:c.1206delC:p.S405Vfs*8,LSR:NM_205834:exon8:c.1263delC:p.S424Vfs*8",NA,NA,NA,NA,NA,NA
chr20,46279837,46279839,CAG,-,P237167_S,NCOA3,In_Frame_Del,NM_001174087,exon20,c.3760_3762del,p.Q1275del,DEL,SNVindel,exonic,NCOA3,NA,nonframeshift deletion,"NCOA3:NM_001174087:exon20:c.3760_3762del:p.Q1275del,NCOA3:NM_001174088:exon20:c.3736_3738del:p.Q1267del,NCOA3:NM_006534:exon20:c.3751_3753del:p.Q1272del,NCOA3:NM_181659:exon20:c.3763_3765del:p.Q1276del",NA,NA,NA,NA,NA,NA
chrX,76938099,76938100,TT,-,P237167_S,ATRX,Frame_Shift_Del,NM_138270,exon8,c.2534_2535del,p.Q845Rfs*13,DEL,SNVindel,exonic,ATRX,NA,frameshift deletion,"ATRX:NM_138270:exon8:c.2534_2535del:p.Q845Rfs*13,ATRX:NM_000489:exon9:c.2648_2649del:p.Q883Rfs*13",NA,NA,NA,NA,NA,NA
chr5,1038447,1038449,CAC,-,P238571_F,NKD2,In_Frame_Del,NM_033120,exon10,c.1315_1317del,p.H447del,DEL,SNVindel,exonic,NKD2,NA,nonframeshift deletion,NKD2:NM_033120:exon10:c.1315_1317del:p.H447del,NA,NA,NA,NA,NA,NA
chr5,64023940,64023940,-,T,P238571_F,SREK1IP1,Frame_Shift_Ins,NM_173829,exon4,c.271dupA,p.R91Kfs*11,SNP,SNVindel,exonic,SREK1IP1,NA,frameshift insertion,SREK1IP1:NM_173829:exon4:c.271dupA:p.R91Kfs*11,NA,NA,NA,NA,NA,NA
chr7,30634583,30634585,CTG,-,P238571_F,GARS,In_Frame_Del,NM_002047,exon1,c.46_48del,p.L20del,DEL,SNVindel,exonic,GARS,NA,nonframeshift deletion,GARS:NM_002047:exon1:c.46_48del:p.L20del,NA,NA,NA,NA,NA,NA
chr11,76506673,76506675,CTG,-,P238571_F,TSKU,In_Frame_Del,NM_001258210,exon2,c.13_15del,p.L9del,DEL,SNVindel,exonic,TSKU,NA,nonframeshift deletion,"TSKU:NM_001258210:exon2:c.13_15del:p.L9del,TSKU:NM_001318477:exon2:c.55_57del:p.L23del,TSKU:NM_001318478:exon2:c.13_15del:p.L9del,TSKU:NM_001318479:exon2:c.13_15del:p.L9del,TSKU:NM_015516:exon2:c.13_15del:p.L9del",NA,NA,NA,NA,NA,NA
chr13,79918806,79918806,-,T,P238571_F,RBM26,Frame_Shift_Ins,NM_001286632,exon14,c.2109dupA,p.Q704Tfs*23,SNP,SNVindel,exonic,RBM26,NA,frameshift insertion,"RBM26:NM_001286632:exon14:c.2109dupA:p.Q704Tfs*23,RBM26:NM_022118:exon14:c.2100dupA:p.Q701Tfs*23,RBM26:NM_001286631:exon15:c.2187dupA:p.Q730Tfs*23,RBM26:NM_001366735:exon15:c.2181dupA:p.Q728Tfs*23",NA,NA,NA,NA,NA,NA
chr16,12009530,12009530,-,CCG,P238571_F,GSPT1,In_Frame_Ins,NM_001130006,exon1,c.47_48insCGG,p.G16_S17insG,INS,SNVindel,exonic,GSPT1,NA,nonframeshift insertion,"GSPT1:NM_001130006:exon1:c.47_48insCGG:p.G16_S17insG,GSPT1:NM_002094:exon1:c.47_48insCGG:p.G16_S17insG",NA,NA,NA,NA,NA,NA
chr20,23066789,23066791,AGC,-,P238571_F,CD93,In_Frame_Del,NM_012072,exon1,c.39_41del,p.L15del,DEL,SNVindel,exonic,CD93,NA,nonframeshift deletion,CD93:NM_012072:exon1:c.39_41del:p.L15del,NA,NA,NA,NA,NA,NA
chr20,47864378,47864382,TTCTC,-,P238571_F,ZNFX1,Frame_Shift_Del,NM_021035,exon14,c.5179_5183del,p.E1727Kfs*11,DEL,SNVindel,exonic,ZNFX1,NA,frameshift deletion,ZNFX1:NM_021035:exon14:c.5179_5183del:p.E1727Kfs*11,NA,NA,NA,NA,NA,NA
chr1,67438650,67438650,T,-,P238571_S,MIER1,Frame_Shift_Del,NM_001077701,exon10,c.918delT,p.H308Ifs*2,SNP,SNVindel,exonic,MIER1,NA,frameshift deletion,"MIER1:NM_001077701:exon10:c.918delT:p.H308Ifs*2,MIER1:NM_001077704:exon10:c.918delT:p.H308Ifs*2,MIER1:NM_001146113:exon10:c.729delT:p.H245Ifs*2,MIER1:NM_001077700:exon11:c.1077delT:p.H361Ifs*2,MIER1:NM_001077703:exon11:c.1077delT:p.H361Ifs*2,MIER1:NM_001077702:exon12:c.969delT:p.H325Ifs*2,MIER1:NM_001146110:exon12:c.969delT:p.H325Ifs*2,MIER1:NM_001146111:exon12:c.969delT:p.H325Ifs*2,MIER1:NM_001146112:exon12:c.837delT:p.H281Ifs*2,MIER1:NM_020948:exon12:c.969delT:p.H325Ifs*2,MIER1:NM_001350530:exon13:c.1188delT:p.H398Ifs*2",NA,NA,NA,NA,NA,NA
chr1,204135375,204135377,AGC,-,P238571_S,REN,In_Frame_Del,NM_000537,exon1,c.45_47del,p.L16del,DEL,SNVindel,exonic,REN,NA,nonframeshift deletion,REN:NM_000537:exon1:c.45_47del:p.L16del,NA,NA,NA,NA,NA,NA
chr2,74659669,74659669,T,-,P238571_S,RTKN,Frame_Shift_Del,NM_001015055,exon2,c.236delA,p.N79Tfs*86,SNP,SNVindel,exonic,RTKN,NA,frameshift deletion,"RTKN:NM_001015055:exon2:c.236delA:p.N79Tfs*86,RTKN:NM_001015056:exon2:c.86delA:p.N29Tfs*86,RTKN:NM_033046:exon3:c.197delA:p.N66Tfs*86",NA,NA,NA,NA,NA,NA
chr2,160918876,160918878,CAG,-,P238571_S,PLA2R1,In_Frame_Del,NM_001007267,exon1,c.37_39del,p.L13del,DEL,SNVindel,exonic,PLA2R1,NA,nonframeshift deletion,"PLA2R1:NM_001007267:exon1:c.37_39del:p.L13del,PLA2R1:NM_001195641:exon1:c.37_39del:p.L13del,PLA2R1:NM_007366:exon1:c.37_39del:p.L13del",NA,NA,NA,NA,NA,NA
chr3,160156368,160156368,T,-,P238571_S,TRIM59,Frame_Shift_Del,NM_173084,exon3,c.604delA,p.S202Vfs*3,SNP,SNVindel,exonic,TRIM59,NA,frameshift deletion,TRIM59:NM_173084:exon3:c.604delA:p.S202Vfs*3,NA,NA,NA,NA,NA,NA
chr4,113578482,113578482,-,A,P238571_S,LARP7,In_Frame_Ins,NM_001370974,exon13,c.1788dupA,p.X596delinsX,SNP,SNVindel,exonic,LARP7,NA,nonframeshift insertion,"LARP7:NM_001370974:exon13:c.1788dupA:p.X596delinsX,LARP7:NM_001370975:exon13:c.1788dupA:p.X596delinsX,LARP7:NM_001370976:exon13:c.1785dupA:p.X595delinsX,LARP7:NM_001370977:exon13:c.1785dupA:p.X595delinsX,LARP7:NM_001370979:exon13:c.1746dupA:p.X582delinsX,LARP7:NM_001370980:exon13:c.1746dupA:p.X582delinsX,LARP7:NM_001370981:exon13:c.1512dupA:p.X504delinsX,LARP7:NM_001370982:exon13:c.1512dupA:p.X504delinsX,LARP7:NM_015454:exon13:c.1749dupA:p.X583delinsX,LARP7:NM_016648:exon13:c.1749dupA:p.X583delinsX,LARP7:NM_001370978:exon14:c.1749dupA:p.X583delinsX,LARP7:NM_001267039:exon15:c.1770dupA:p.X590delinsX",NA,NA,NA,NA,NA,NA
chr5,67522700,67522700,G,-,P238571_S,PIK3R1,Frame_Shift_Del,NM_181523,exon2,c.197delG,p.D68Tfs*7,SNP,SNVindel,exonic,PIK3R1,NA,frameshift deletion,PIK3R1:NM_181523:exon2:c.197delG:p.D68Tfs*7,NA,NA,NA,NA,NA,NA
chr5,176011435,176011435,C,-,P238571_S,CDHR2,Frame_Shift_Del,NM_001171976,exon19,c.2153delC,p.W719Gfs*25,SNP,SNVindel,exonic,CDHR2,NA,frameshift deletion,"CDHR2:NM_001171976:exon19:c.2153delC:p.W719Gfs*25,CDHR2:NM_017675:exon19:c.2153delC:p.W719Gfs*25",NA,NA,NA,NA,NA,NA
chr6,7910932,7910934,CAG,-,P238571_S,TXNDC5,In_Frame_Del,NM_030810,exon1,c.76_78del,p.L26del,DEL,SNVindel,exonic,TXNDC5,NA,nonframeshift deletion,TXNDC5:NM_030810:exon1:c.76_78del:p.L26del,NA,NA,NA,NA,NA,NA
chr8,19813593,19813593,-,GG,P238571_S,LPL,Frame_Shift_Ins,NM_000237,exon6,c.1017_1018insGG,p.V340Gfs*7,INS,SNVindel,exonic,LPL,NA,frameshift insertion,LPL:NM_000237:exon6:c.1017_1018insGG:p.V340Gfs*7,NA,NA,NA,NA,NA,NA
chr11,1907977,1907990,CCCAAGCTAGCCCG,-,P238571_S,LSP1,Frame_Shift_Del,NM_001013253,exon8,c.547_560del,p.K184Gfs*21,DEL,SNVindel,exonic,LSP1,NA,frameshift deletion,"LSP1:NM_001013253:exon8:c.547_560del:p.K184Gfs*21,LSP1:NM_001013254:exon8:c.547_560del:p.K184Gfs*21,LSP1:NM_001013255:exon8:c.547_560del:p.K184Gfs*21,LSP1:NM_001289005:exon8:c.547_560del:p.K184Gfs*21,LSP1:NM_002339:exon8:c.733_746del:p.K246Gfs*21,LSP1:NM_001242932:exon9:c.1117_1130del:p.K374Gfs*21",NA,NA,NA,NA,NA,NA
chr11,1907996,1907996,C,-,P238571_S,LSP1,Frame_Shift_Del,NM_001013253,exon8,c.566delC,p.S190Pfs*2,SNP,SNVindel,exonic,LSP1,NA,frameshift deletion,"LSP1:NM_001013253:exon8:c.566delC:p.S190Pfs*2,LSP1:NM_001013254:exon8:c.566delC:p.S190Pfs*2,LSP1:NM_001013255:exon8:c.566delC:p.S190Pfs*2,LSP1:NM_001289005:exon8:c.566delC:p.S190Pfs*2,LSP1:NM_002339:exon8:c.752delC:p.S252Pfs*2,LSP1:NM_001242932:exon9:c.1136delC:p.S380Pfs*2",NA,NA,NA,NA,NA,NA
chr11,3849114,3849121,GGCAATGG,-,P238571_S,RHOG,Nonsense_Mutation,NM_001665,exon2,c.248_255del,p.S83*,DEL,SNVindel,exonic,RHOG,NA,stopgain,RHOG:NM_001665:exon2:c.248_255del:p.S83*,NA,NA,NA,NA,NA,NA
chr11,6662746,6662748,CAG,-,P238571_S,DCHS1,In_Frame_Del,NM_003737,exon2,c.97_99del,p.L33del,DEL,SNVindel,exonic,DCHS1,NA,nonframeshift deletion,DCHS1:NM_003737:exon2:c.97_99del:p.L33del,NA,NA,NA,NA,NA,NA
chr11,63533335,63533337,TCC,-,P238571_S,C11orf95,In_Frame_Del,NM_001144936,exon2,c.579_581del,p.E200del,DEL,SNVindel,exonic,C11orf95,NA,nonframeshift deletion,C11orf95:NM_001144936:exon2:c.579_581del:p.E200del,NA,NA,NA,NA,NA,NA
chr12,39695454,39695454,C,-,P238571_S,KIF21A,Frame_Shift_Del,NM_001173463,exon33,c.4648delG,p.V1550Sfs*22,SNP,SNVindel,exonic,KIF21A,NA,frameshift deletion,"KIF21A:NM_001173463:exon33:c.4648delG:p.V1550Sfs*22,KIF21A:NM_001173465:exon33:c.4600delG:p.V1534Sfs*22,KIF21A:NM_017641:exon36:c.4720delG:p.V1574Sfs*22,KIF21A:NM_001173464:exon37:c.4759delG:p.V1587Sfs*22",NA,NA,NA,NA,NA,NA
chr16,12009530,12009530,-,CCG,P238571_S,GSPT1,In_Frame_Ins,NM_001130006,exon1,c.47_48insCGG,p.G16_S17insG,INS,SNVindel,exonic,GSPT1,NA,nonframeshift insertion,"GSPT1:NM_001130006:exon1:c.47_48insCGG:p.G16_S17insG,GSPT1:NM_002094:exon1:c.47_48insCGG:p.G16_S17insG",NA,NA,NA,NA,NA,NA
chr19,9361741,9361741,T,-,P238571_S,OR7E24,Frame_Shift_Del,NM_001079935,exon1,c.22delT,p.F11Sfs*89,SNP,SNVindel,exonic,OR7E24,NA,frameshift deletion,OR7E24:NM_001079935:exon1:c.22delT:p.F11Sfs*89,NA,NA,NA,NA,NA,NA
chr21,34883573,34883577,ACCAC,-,P238571_S,GART,Frame_Shift_Del,NM_000819,exon17,c.2296_2300del,p.V766Cfs*4,DEL,SNVindel,exonic,GART,NA,frameshift deletion,"GART:NM_000819:exon17:c.2296_2300del:p.V766Cfs*4,GART:NM_001136005:exon17:c.2296_2300del:p.V766Cfs*4,GART:NM_001136006:exon17:c.2296_2300del:p.V766Cfs*4",NA,NA,NA,NA,NA,NA
chrX,13764946,13764946,A,-,P238571_S,OFD1,Frame_Shift_Del,NM_001330209,exon8,c.702delA,p.K237Sfs*6,SNP,SNVindel,exonic,OFD1,NA,frameshift deletion,"OFD1:NM_001330209:exon8:c.702delA:p.K237Sfs*6,OFD1:NM_003611:exon8:c.702delA:p.K237Sfs*6,OFD1:NM_001330210:exon9:c.282delA:p.K97Sfs*6",NA,NA,NA,NA,NA,NA
chr1,231762652,231762654,CGG,-,P243757_F,DISC1,In_Frame_Del,NM_001012957,exon1,c.39_41del,p.G17del,DEL,SNVindel,exonic,DISC1,NA,nonframeshift deletion,"DISC1:NM_001012957:exon1:c.39_41del:p.G17del,DISC1:NM_001012958:exon1:c.39_41del:p.G17del,DISC1:NM_001012959:exon1:c.39_41del:p.G17del,DISC1:NM_001164537:exon1:c.39_41del:p.G17del,DISC1:NM_001164538:exon1:c.39_41del:p.G17del,DISC1:NM_001164539:exon1:c.39_41del:p.G17del,DISC1:NM_001164540:exon1:c.39_41del:p.G17del,DISC1:NM_001164541:exon1:c.39_41del:p.G17del,DISC1:NM_001164542:exon1:c.39_41del:p.G17del,DISC1:NM_001164544:exon1:c.39_41del:p.G17del,DISC1:NM_001164545:exon1:c.39_41del:p.G17del,DISC1:NM_001164546:exon1:c.39_41del:p.G17del,DISC1:NM_001164547:exon1:c.39_41del:p.G17del,DISC1:NM_001164548:exon1:c.39_41del:p.G17del,DISC1:NM_001164549:exon1:c.39_41del:p.G17del,DISC1:NM_001164550:exon1:c.39_41del:p.G17del,DISC1:NM_001164551:exon1:c.39_41del:p.G17del,DISC1:NM_001164552:exon1:c.39_41del:p.G17del,DISC1:NM_001164553:exon1:c.39_41del:p.G17del,DISC1:NM_001164554:exon1:c.39_41del:p.G17del,DISC1:NM_001164555:exon1:c.39_41del:p.G17del,DISC1:NM_001164556:exon1:c.39_41del:p.G17del,DISC1:NM_018662:exon1:c.39_41del:p.G17del",NA,NA,NA,NA,NA,NA
chr2,74652713,74652716,GTGA,-,P243757_F,WDR54,Frame_Shift_Del,NM_001320823,exon10,c.935_938del,p.E313Vfs*22,DEL,SNVindel,exonic,WDR54,NA,frameshift deletion,"WDR54:NM_001320823:exon10:c.935_938del:p.E313Vfs*22,WDR54:NM_001320824:exon10:c.890_893del:p.E298Vfs*22,WDR54:NM_032118:exon10:c.890_893del:p.E298Vfs*22",NA,NA,NA,NA,NA,NA
chr2,85360829,85360831,GGC,-,P243757_F,TCF7L1,In_Frame_Del,NM_031283,exon1,c.22_24del,p.G14del,DEL,SNVindel,exonic,TCF7L1,NA,nonframeshift deletion,TCF7L1:NM_031283:exon1:c.22_24del:p.G14del,NA,NA,NA,NA,NA,NA
chr3,98309520,98309520,-,TA,P243757_F,CPOX,Frame_Shift_Ins,NM_000097,exon3,c.766_767insTA,p.T256Ifs*12,INS,SNVindel,exonic,CPOX,NA,frameshift insertion,CPOX:NM_000097:exon3:c.766_767insTA:p.T256Ifs*12,NA,NA,NA,NA,NA,NA
chr6,80751896,80751896,-,A,P243757_F,TTK,Frame_Shift_Ins,NM_001166691,exon22,c.2549dupA,p.R853Kfs*11,SNP,SNVindel,exonic,TTK,NA,frameshift insertion,"TTK:NM_001166691:exon22:c.2549dupA:p.R853Kfs*11,TTK:NM_003318:exon22:c.2552dupA:p.R854Kfs*11",NA,NA,NA,NA,NA,NA
chr10,22292247,22292249,CAG,-,P243757_F,DNAJC1,In_Frame_Del,NM_022365,exon1,c.115_117del,p.L39del,DEL,SNVindel,exonic,DNAJC1,NA,nonframeshift deletion,DNAJC1:NM_022365:exon1:c.115_117del:p.L39del,NA,NA,NA,NA,NA,NA
chr10,22292282,22292284,GCG,-,P243757_F,DNAJC1,In_Frame_Del,NM_022365,exon1,c.80_82del,p.P27del,DEL,SNVindel,exonic,DNAJC1,NA,nonframeshift deletion,DNAJC1:NM_022365:exon1:c.80_82del:p.P27del,NA,NA,NA,NA,NA,NA
chr10,88719714,88719719,TGGGGC,-,P243757_F,SNCG,In_Frame_Del,NM_001330120,exon5,c.172_177del,p.W62_G63del,DEL,SNVindel,exonic,SNCG,NA,nonframeshift deletion,SNCG:NM_001330120:exon5:c.172_177del:p.W62_G63del,NA,NA,NA,NA,NA,NA
chr12,49942774,49942776,GCA,-,P243757_F,KCNH3,In_Frame_Del,NM_001314030,exon8,c.1106_1108del,p.S373del,DEL,SNVindel,exonic,KCNH3,NA,nonframeshift deletion,"KCNH3:NM_001314030:exon8:c.1106_1108del:p.S373del,KCNH3:NM_012284:exon8:c.1286_1288del:p.S433del",NA,NA,NA,NA,NA,NA
chr12,52400916,52400916,C,-,P243757_F,GRASP,Frame_Shift_Del,NM_181711,exon1,c.113delC,p.P39Rfs*64,SNP,SNVindel,exonic,GRASP,NA,frameshift deletion,GRASP:NM_181711:exon1:c.113delC:p.P39Rfs*64,NA,NA,NA,NA,NA,NA
chr12,121125148,121125150,CTG,-,P243757_F,MLEC,In_Frame_Del,NM_001303628,exon1,c.49_51del,p.L22del,DEL,SNVindel,exonic,MLEC,NA,nonframeshift deletion,"MLEC:NM_001303628:exon1:c.49_51del:p.L22del,MLEC:NM_014730:exon1:c.49_51del:p.L22del",NA,NA,NA,NA,NA,NA
chr15,72767053,72767055,GAG,-,P243757_F,ARIH1,In_Frame_Del,NM_005744,exon1,c.73_75del,p.E28del,DEL,SNVindel,exonic,ARIH1,NA,nonframeshift deletion,ARIH1:NM_005744:exon1:c.73_75del:p.E28del,NA,NA,NA,NA,NA,NA
chr19,13215786,13215786,G,-,P243757_F,TRMT1,Frame_Shift_Del,NM_001142554,exon15,c.1856delC,p.P619Lfs*11,SNP,SNVindel,exonic,TRMT1,NA,frameshift deletion,"TRMT1:NM_001142554:exon15:c.1856delC:p.P619Lfs*11,TRMT1:NM_001351760:exon16:c.1856delC:p.P619Lfs*11,TRMT1:NM_001351762:exon16:c.1160delC:p.P387Lfs*11,TRMT1:NM_017722:exon16:c.1943delC:p.P648Lfs*11,TRMT1:NM_001136035:exon17:c.1943delC:p.P648Lfs*11,TRMT1:NM_001351761:exon17:c.1835delC:p.P612Lfs*11",NA,NA,NA,NA,NA,NA
chr19,16640581,16640583,TGC,-,P243757_F,CHERP,In_Frame_Del,NM_006387,exon8,c.1005_1007del,p.Q341del,DEL,SNVindel,exonic,CHERP,NA,nonframeshift deletion,CHERP:NM_006387:exon8:c.1005_1007del:p.Q341del,NA,NA,NA,NA,NA,NA
chr22,20918765,20918767,GCA,-,P243757_F,MED15,In_Frame_Del,NM_001293236,exon5,c.267_269del,p.Q97del,DEL,SNVindel,exonic,MED15,NA,nonframeshift deletion,"MED15:NM_001293236:exon5:c.267_269del:p.Q97del,MED15:NM_001003891:exon6:c.480_482del:p.Q168del,MED15:NM_001293234:exon6:c.480_482del:p.Q168del,MED15:NM_001293235:exon6:c.402_404del:p.Q142del,MED15:NM_001293237:exon6:c.402_404del:p.Q142del,MED15:NM_015889:exon6:c.480_482del:p.Q168del",NA,NA,NA,NA,NA,NA
chr1,148252777,148252777,-,CTC,P243757_S,NBPF14,In_Frame_Ins,NM_015383,exon65,c.8168_8169insGAG,p.R2724_G2725insR,INS,SNVindel,exonic,NBPF14,NA,nonframeshift insertion,NBPF14:NM_015383:exon65:c.8168_8169insGAG:p.R2724_G2725insR,NA,NA,NA,NA,NA,NA
chr2,85360829,85360831,GGC,-,P243757_S,TCF7L1,In_Frame_Del,NM_031283,exon1,c.22_24del,p.G14del,DEL,SNVindel,exonic,TCF7L1,NA,nonframeshift deletion,TCF7L1:NM_031283:exon1:c.22_24del:p.G14del,NA,NA,NA,NA,NA,NA
chr4,54966917,54966919,CAT,-,P243757_S,GSX2,In_Frame_Del,NM_133267,exon1,c.406_408del,p.H139del,DEL,SNVindel,exonic,GSX2,NA,nonframeshift deletion,GSX2:NM_133267:exon1:c.406_408del:p.H139del,NA,NA,NA,NA,NA,NA
chr9,131591119,131591119,-,T,P243757_S,SPOUT1,Frame_Shift_Ins,NM_016390,exon3,c.102dupA,p.W35Mfs*77,SNP,SNVindel,exonic,SPOUT1,NA,frameshift insertion,SPOUT1:NM_016390:exon3:c.102dupA:p.W35Mfs*77,NA,NA,NA,NA,NA,NA
chr10,70182520,70182520,-,A,P243757_S,DNA2,Frame_Shift_Ins,NM_001080449,exon15,c.2335dupT,p.S779Ffs*21,SNP,SNVindel,exonic,DNA2,NA,frameshift insertion,DNA2:NM_001080449:exon15:c.2335dupT:p.S779Ffs*21,NA,NA,NA,NA,NA,NA
chr10,104159413,104159414,CG,-,P243757_S,NFKB2,Frame_Shift_Del,NM_001261403,exon13,c.1407_1408del,p.L473Afs*32,DEL,SNVindel,exonic,NFKB2,NA,frameshift deletion,"NFKB2:NM_001261403:exon13:c.1407_1408del:p.L473Afs*32,NFKB2:NM_001322935:exon13:c.1281_1282del:p.L431Afs*32,NFKB2:NM_001077494:exon14:c.1407_1408del:p.L473Afs*32,NFKB2:NM_001288724:exon14:c.1407_1408del:p.L473Afs*32,NFKB2:NM_001322934:exon14:c.1407_1408del:p.L473Afs*32,NFKB2:NM_002502:exon14:c.1407_1408del:p.L473Afs*32",NA,NA,NA,NA,NA,NA
chr10,112837856,112837856,G,-,P243757_S,ADRA2A,Frame_Shift_Del,NM_000681,exon1,c.102delG,p.G36Afs*12,SNP,SNVindel,exonic,ADRA2A,NA,frameshift deletion,ADRA2A:NM_000681:exon1:c.102delG:p.G36Afs*12,NA,NA,NA,NA,NA,NA
chr11,72353321,72353323,GCG,-,P243757_S,PDE2A,In_Frame_Del,NM_001143839,exon1,c.98_100del,p.P33del,DEL,SNVindel,exonic,PDE2A,NA,nonframeshift deletion,"PDE2A:NM_001143839:exon1:c.98_100del:p.P33del,PDE2A:NM_002599:exon2:c.119_121del:p.P40del,PDE2A:NM_001146209:exon3:c.92_94del:p.P31del",NA,NA,NA,NA,NA,NA
chr12,50452565,50452567,GAG,-,P243757_S,ASIC1,In_Frame_Del,NM_001095,exon2,c.16_18del,p.E9del,DEL,SNVindel,exonic,ASIC1,NA,nonframeshift deletion,"ASIC1:NM_001095:exon2:c.16_18del:p.E9del,ASIC1:NM_020039:exon2:c.16_18del:p.E9del",NA,NA,NA,NA,NA,NA
chr17,36508663,36508665,AGC,-,P243757_S,SOCS7,In_Frame_Del,NM_014598,exon1,c.728_730del,p.Q251del,DEL,SNVindel,exonic,SOCS7,NA,nonframeshift deletion,SOCS7:NM_014598:exon1:c.728_730del:p.Q251del,NA,NA,NA,NA,NA,NA
chr20,56284593,56284595,CGG,-,P243757_S,PMEPA1,In_Frame_Del,NM_020182,exon1,c.44_46del,p.A15del,DEL,SNVindel,exonic,PMEPA1,NA,nonframeshift deletion,PMEPA1:NM_020182:exon1:c.44_46del:p.A15del,NA,NA,NA,NA,NA,NA
chr22,28194913,28194915,TGC,-,P243757_S,MN1,In_Frame_Del,NM_002430,exon1,c.1617_1619del,p.Q550del,DEL,SNVindel,exonic,MN1,NA,nonframeshift deletion,MN1:NM_002430:exon1:c.1617_1619del:p.Q550del,NA,NA,NA,NA,NA,NA
chr1,2124346,2124348,TTG,-,P243757_T,FAAP20,In_Frame_Del,NM_001256946,exon4,c.537_539del,p.N179del,DEL,SNVindel,exonic,FAAP20,NA,nonframeshift deletion,FAAP20:NM_001256946:exon4:c.537_539del:p.N179del,NA,NA,NA,NA,NA,NA
chr2,160918876,160918878,CAG,-,P243757_T,PLA2R1,In_Frame_Del,NM_001007267,exon1,c.37_39del,p.L13del,DEL,SNVindel,exonic,PLA2R1,NA,nonframeshift deletion,"PLA2R1:NM_001007267:exon1:c.37_39del:p.L13del,PLA2R1:NM_001195641:exon1:c.37_39del:p.L13del,PLA2R1:NM_007366:exon1:c.37_39del:p.L13del",NA,NA,NA,NA,NA,NA
chr4,3432431,3432431,C,-,P243757_T,RGS12,Frame_Shift_Del,NM_198227,exon15,c.1919delC,p.Q644Rfs*49,SNP,SNVindel,exonic,RGS12,NA,frameshift deletion,"RGS12:NM_198227:exon15:c.1919delC:p.Q644Rfs*49,RGS12:NM_002926:exon17:c.3863delC:p.Q1292Rfs*49,RGS12:NM_198229:exon17:c.3863delC:p.Q1292Rfs*49",NA,NA,NA,NA,NA,NA
chr4,25265393,25265395,GAA,-,P243757_T,PI4K2B,In_Frame_Del,NM_018323,exon7,c.1000_1002del,p.E335del,DEL,SNVindel,exonic,PI4K2B,NA,nonframeshift deletion,PI4K2B:NM_018323:exon7:c.1000_1002del:p.E335del,NA,NA,NA,NA,NA,NA
chr5,1038447,1038449,CAC,-,P243757_T,NKD2,In_Frame_Del,NM_033120,exon10,c.1315_1317del,p.H447del,DEL,SNVindel,exonic,NKD2,NA,nonframeshift deletion,NKD2:NM_033120:exon10:c.1315_1317del:p.H447del,NA,NA,NA,NA,NA,NA
chr10,119302938,119302940,GCC,-,P243757_T,EMX2,In_Frame_Del,NM_001165924,exon1,c.160_162del,p.A59del,DEL,SNVindel,exonic,EMX2,NA,nonframeshift deletion,"EMX2:NM_001165924:exon1:c.160_162del:p.A59del,EMX2:NM_004098:exon1:c.160_162del:p.A59del",NA,NA,NA,NA,NA,NA
chr11,9595595,9595597,GAG,-,P243757_T,WEE1,In_Frame_Del,NM_003390,exon1,c.115_117del,p.E43del,DEL,SNVindel,exonic,WEE1,NA,nonframeshift deletion,WEE1:NM_003390:exon1:c.115_117del:p.E43del,NA,NA,NA,NA,NA,NA
chr12,57921731,57921731,-,G,P243757_T,MBD6,Frame_Shift_Ins,NM_052897,exon9,c.2338dupG,p.A783Sfs*10,SNP,SNVindel,exonic,MBD6,NA,frameshift insertion,MBD6:NM_052897:exon9:c.2338dupG:p.A783Sfs*10,NA,NA,NA,NA,NA,NA
chr12,112622883,112622885,GAG,-,P243757_T,HECTD4,In_Frame_Del,NM_001109662,exon61,c.9915_9917del,p.S3308del,DEL,SNVindel,exonic,HECTD4,NA,nonframeshift deletion,HECTD4:NM_001109662:exon61:c.9915_9917del:p.S3308del,NA,NA,NA,NA,NA,NA
chr14,24040436,24040436,C,-,P243757_T,JPH4,Frame_Shift_Del,NM_001146028,exon5,c.1504delG,p.A502Qfs*8,SNP,SNVindel,exonic,JPH4,NA,frameshift deletion,"JPH4:NM_001146028:exon5:c.1504delG:p.A502Qfs*8,JPH4:NM_032452:exon6:c.1504delG:p.A502Qfs*8",NA,NA,NA,NA,NA,NA
chr14,101005271,101005273,CCT,-,P243757_T,BEGAIN,In_Frame_Del,NM_001159531,exon6,c.815_817del,p.E272del,DEL,SNVindel,exonic,BEGAIN,NA,nonframeshift deletion,"BEGAIN:NM_001159531:exon6:c.815_817del:p.E272del,BEGAIN:NM_020836:exon7:c.815_817del:p.E272del",NA,NA,NA,NA,NA,NA
chr15,40917759,40917761,AAG,-,P243757_T,KNL1,In_Frame_Del,NM_144508,exon10,c.5297_5299del,p.E1769del,DEL,SNVindel,exonic,KNL1,NA,nonframeshift deletion,"KNL1:NM_144508:exon10:c.5297_5299del:p.E1769del,KNL1:NM_170589:exon11:c.5375_5377del:p.E1795del",NA,NA,NA,NA,NA,NA
chr16,50368678,50368679,CT,-,P243757_T,BRD7,Frame_Shift_Del,NM_001173984,exon7,c.830_831del,p.E277Gfs*18,DEL,SNVindel,exonic,BRD7,NA,frameshift deletion,"BRD7:NM_001173984:exon7:c.830_831del:p.E277Gfs*18,BRD7:NM_013263:exon7:c.830_831del:p.E277Gfs*18",NA,NA,NA,NA,NA,NA
chr17,7852809,7852809,G,-,P243757_T,CNTROB,Frame_Shift_Del,NM_001037144,exon19,c.2759delG,p.G922Efs*34,SNP,SNVindel,exonic,CNTROB,NA,frameshift deletion,"CNTROB:NM_001037144:exon19:c.2759delG:p.G922Efs*34,CNTROB:NM_001330124:exon19:c.2696delG:p.G901Efs*34,CNTROB:NM_001353205:exon19:c.2429delG:p.G812Efs*34,CNTROB:NM_053051:exon19:c.2693delG:p.G900Efs*34,CNTROB:NM_001353203:exon20:c.2693delG:p.G900Efs*34,CNTROB:NM_001353204:exon20:c.2135delG:p.G714Efs*34,CNTROB:NM_001353206:exon20:c.2696delG:p.G901Efs*34,CNTROB:NM_001353207:exon20:c.2693delG:p.G900Efs*34,CNTROB:NM_001353208:exon20:c.2696delG:p.G901Efs*34,CNTROB:NM_001353209:exon20:c.2696delG:p.G901Efs*34",NA,NA,NA,NA,NA,NA
chrX,38079976,38079978,GCA,-,P243757_T,SRPX,In_Frame_Del,NM_001170750,exon1,c.68_70del,p.L23del,DEL,SNVindel,exonic,SRPX,NA,nonframeshift deletion,"SRPX:NM_001170750:exon1:c.68_70del:p.L23del,SRPX:NM_001170751:exon1:c.68_70del:p.L23del,SRPX:NM_001170752:exon1:c.68_70del:p.L23del,SRPX:NM_006307:exon1:c.68_70del:p.L23del",NA,NA,NA,NA,NA,NA
chr3,42700697,42700699,GAG,-,P258689_F,ZBTB47,In_Frame_Del,NM_145166,exon2,c.850_852del,p.E294del,DEL,SNVindel,exonic,ZBTB47,NA,nonframeshift deletion,ZBTB47:NM_145166:exon2:c.850_852del:p.E294del,NA,NA,NA,NA,NA,NA
chr6,22570347,22570349,GGC,-,P258689_F,HDGFL1,In_Frame_Del,NM_138574,exon1,c.543_545del,p.A188del,DEL,SNVindel,exonic,HDGFL1,NA,nonframeshift deletion,HDGFL1:NM_138574:exon1:c.543_545del:p.A188del,NA,NA,NA,NA,NA,NA
chr6,114292040,114292040,T,-,P258689_F,HDAC2,Frame_Shift_Del,NM_001527,exon1,c.33delA,p.V12Sfs*20,SNP,SNVindel,exonic,HDAC2,NA,frameshift deletion,HDAC2:NM_001527:exon1:c.33delA:p.V12Sfs*20,NA,NA,NA,NA,NA,NA
chr8,28209226,28209228,GCA,-,P258689_F,ZNF395,In_Frame_Del,NM_018660,exon7,c.1017_1019del,p.A341del,DEL,SNVindel,exonic,ZNF395,NA,nonframeshift deletion,ZNF395:NM_018660:exon7:c.1017_1019del:p.A341del,NA,NA,NA,NA,NA,NA
chr8,124368685,124368685,A,-,P258689_F,ATAD2,Frame_Shift_Del,NM_014109,exon13,c.1590delT,p.F530Lfs*27,SNP,SNVindel,exonic,ATAD2,NA,frameshift deletion,ATAD2:NM_014109:exon13:c.1590delT:p.F530Lfs*27,NA,NA,NA,NA,NA,NA
chr12,57422572,57422572,-,T,P258689_F,MYO1A,Frame_Shift_Ins,NM_005379,exon28,c.3098dupA,p.S1035Efs*24,SNP,SNVindel,exonic,MYO1A,NA,frameshift insertion,"MYO1A:NM_005379:exon28:c.3098dupA:p.S1035Efs*24,MYO1A:NM_001256041:exon29:c.3098dupA:p.S1035Efs*24",NA,NA,NA,NA,NA,NA
chr16,67300017,67300019,GAG,-,P258689_F,SLC9A5,In_Frame_Del,NM_001323972,exon14,c.1804_1806del,p.E607del,DEL,SNVindel,exonic,SLC9A5,NA,nonframeshift deletion,"SLC9A5:NM_001323972:exon14:c.1804_1806del:p.E607del,SLC9A5:NM_001323973:exon15:c.2104_2106del:p.E707del,SLC9A5:NM_001323974:exon15:c.1219_1221del:p.E412del,SLC9A5:NM_001323975:exon15:c.1222_1224del:p.E413del,SLC9A5:NM_004594:exon15:c.2107_2109del:p.E708del",NA,NA,NA,NA,NA,NA
chr20,5903283,5903285,GAG,-,P258689_F,CHGB,In_Frame_Del,NM_001819,exon4,c.493_495del,p.E169del,DEL,SNVindel,exonic,CHGB,NA,nonframeshift deletion,CHGB:NM_001819:exon4:c.493_495del:p.E169del,NA,NA,NA,NA,NA,NA
chr20,62842665,62842681,TCCCCACAAGGATAGGA,-,P258689_F,MYT1,Frame_Shift_Del,NM_004535,exon8,c.1398_1414del,p.H468Pfs*8,DEL,SNVindel,exonic,MYT1,NA,frameshift deletion,MYT1:NM_004535:exon8:c.1398_1414del:p.H468Pfs*8,NA,NA,NA,NA,NA,NA
chr22,24037155,24037155,A,-,P258689_F,RGL4,Frame_Shift_Del,NM_001329424,exon6,c.1035delA,p.E347Nfs*9,SNP,SNVindel,exonic,RGL4,NA,frameshift deletion,"RGL4:NM_001329424:exon6:c.1035delA:p.E347Nfs*9,RGL4:NM_153615:exon6:c.1035delA:p.E347Nfs*9",NA,NA,NA,NA,NA,NA
chr8,28209226,28209228,GCA,-,P258689_S,ZNF395,In_Frame_Del,NM_018660,exon7,c.1017_1019del,p.A341del,DEL,SNVindel,exonic,ZNF395,NA,nonframeshift deletion,ZNF395:NM_018660:exon7:c.1017_1019del:p.A341del,NA,NA,NA,NA,NA,NA
chr16,2260586,2260588,CAG,-,P258689_S,BRICD5,In_Frame_Del,NM_182563,exon2,c.115_117del,p.L39del,DEL,SNVindel,exonic,BRICD5,NA,nonframeshift deletion,BRICD5:NM_182563:exon2:c.115_117del:p.L39del,NA,NA,NA,NA,NA,NA
chr1,54605318,54605318,-,GC,P270959_F,CDCP2,Frame_Shift_Ins,NM_201546,exon5,c.1224_1225insGC,p.M409Afs*2,INS,SNVindel,exonic,CDCP2,NA,frameshift insertion,CDCP2:NM_201546:exon5:c.1224_1225insGC:p.M409Afs*2,NA,NA,NA,NA,NA,NA
chr1,74575212,74575212,-,T,P270959_F,LRRIQ3,Frame_Shift_Ins,NM_001105659,exon5,c.732dupA,p.Q245Tfs*7,SNP,SNVindel,exonic,LRRIQ3,NA,frameshift insertion,"LRRIQ3:NM_001105659:exon5:c.732dupA:p.Q245Tfs*7,LRRIQ3:NM_001322315:exon5:c.732dupA:p.Q245Tfs*7",NA,NA,NA,NA,NA,NA
chr1,78429977,78429977,-,T,P270959_F,FUBP1,Frame_Shift_Ins,NM_003902,exon11,c.901dupA,p.I301Nfs*4,SNP,SNVindel,exonic,FUBP1,NA,frameshift insertion,"FUBP1:NM_003902:exon11:c.901dupA:p.I301Nfs*4,FUBP1:NM_001303433:exon12:c.964dupA:p.I322Nfs*4",NA,NA,NA,NA,NA,NA
chr1,109276138,109276138,A,-,P270959_F,FNDC7,Frame_Shift_Del,NM_001144937,exon10,c.2124delA,p.I711Yfs*4,SNP,SNVindel,exonic,FNDC7,NA,frameshift deletion,FNDC7:NM_001144937:exon10:c.2124delA:p.I711Yfs*4,NA,NA,NA,NA,NA,NA
chr1,155307999,155307999,-,T,P270959_F,ASH1L,Frame_Shift_Ins,NM_001366177,exon27,c.8698dupA,p.T2900Nfs*5,SNP,SNVindel,exonic,ASH1L,NA,frameshift insertion,"ASH1L:NM_001366177:exon27:c.8698dupA:p.T2900Nfs*5,ASH1L:NM_018489:exon27:c.8683dupA:p.T2895Nfs*5",NA,NA,NA,NA,NA,NA
chr1,156715103,156715103,-,A,P270959_F,HDGF,Frame_Shift_Ins,NM_001126050,exon2,c.197dupT,p.G67Rfs*63,SNP,SNVindel,exonic,HDGF,NA,frameshift insertion,"HDGF:NM_001126050:exon2:c.197dupT:p.G67Rfs*63,HDGF:NM_001126051:exon2:c.128dupT:p.G44Rfs*63,HDGF:NM_001319186:exon2:c.197dupT:p.G67Rfs*70,HDGF:NM_001319187:exon2:c.53dupT:p.G19Rfs*63,HDGF:NM_004494:exon2:c.149dupT:p.G51Rfs*63,HDGF:NM_001319188:exon3:c.53dupT:p.G19Rfs*63",NA,NA,NA,NA,NA,NA
chr1,214818826,214818826,A,-,P270959_F,CENPF,Frame_Shift_Del,NM_016343,exon13,c.5913delA,p.T1974Pfs*11,SNP,SNVindel,exonic,CENPF,NA,frameshift deletion,CENPF:NM_016343:exon13:c.5913delA:p.T1974Pfs*11,NA,NA,NA,NA,NA,NA
chr2,46605202,46605204,CAG,-,P270959_F,EPAS1,In_Frame_Del,NM_001430,exon10,c.1419_1421del,p.S478del,DEL,SNVindel,exonic,EPAS1,NA,nonframeshift deletion,EPAS1:NM_001430:exon10:c.1419_1421del:p.S478del,NA,NA,NA,NA,NA,NA
chr2,48030639,48030639,-,C,P270959_F,MSH6,Frame_Shift_Ins,NM_001281492,exon3,c.2864dupC,p.F958Lfs*5,SNP,SNVindel,exonic,MSH6,NA,frameshift insertion,"MSH6:NM_001281492:exon3:c.2864dupC:p.F958Lfs*5,MSH6:NM_001281493:exon4:c.2348dupC:p.F786Lfs*5,MSH6:NM_000179:exon5:c.3254dupC:p.F1088Lfs*5,MSH6:NM_001281494:exon5:c.2348dupC:p.F786Lfs*5",NA,NA,NA,NA,NA,NA
chr2,166905432,166905432,A,-,P270959_F,SCN1A,Nonsense_Mutation,NM_001353948,exon8,c.992delT,p.L331*,SNP,SNVindel,exonic,SCN1A,NA,stopgain,"SCN1A:NM_001353948:exon8:c.992delT:p.L331*,SCN1A:NM_001353949:exon8:c.992delT:p.L331*,SCN1A:NM_001353951:exon8:c.992delT:p.L331*,SCN1A:NM_001353955:exon8:c.992delT:p.L331*,SCN1A:NM_001353957:exon8:c.992delT:p.L331*,SCN1A:NM_001165964:exon9:c.992delT:p.L331*,SCN1A:NM_001202435:exon9:c.992delT:p.L331*,SCN1A:NM_001353950:exon9:c.992delT:p.L331*,SCN1A:NM_001353952:exon9:c.992delT:p.L331*,SCN1A:NM_001353954:exon9:c.992delT:p.L331*,SCN1A:NM_001353958:exon9:c.992delT:p.L331*,SCN1A:NM_001353960:exon9:c.992delT:p.L331*,SCN1A:NM_001165963:exon10:c.992delT:p.L331*,SCN1A:NM_006920:exon10:c.992delT:p.L331*",NA,NA,NA,NA,NA,NA
chr2,175213712,175213712,-,T,P270959_F,CIR1,Frame_Shift_Ins,NM_004882,exon10,c.865dupA,p.I289Nfs*15,SNP,SNVindel,exonic,CIR1,NA,frameshift insertion,CIR1:NM_004882:exon10:c.865dupA:p.I289Nfs*15,NA,NA,NA,NA,NA,NA
chr2,207169667,207169667,-,A,P270959_F,ZDBF2,Frame_Shift_Ins,NM_020923,exon5,c.416dupA,p.L141Tfs*14,SNP,SNVindel,exonic,ZDBF2,NA,frameshift insertion,"ZDBF2:NM_020923:exon5:c.416dupA:p.L141Tfs*14,ZDBF2:NM_001369654:exon6:c.416dupA:p.L141Tfs*14,ZDBF2:NM_001285549:exon7:c.410dupA:p.L139Tfs*14",NA,NA,NA,NA,NA,NA
chr3,127298601,127298601,A,-,P270959_F,TPRA1,Frame_Shift_Del,NM_001136053,exon3,c.240delT,p.F80Lfs*23,SNP,SNVindel,exonic,TPRA1,NA,frameshift deletion,"TPRA1:NM_001136053:exon3:c.240delT:p.F80Lfs*23,TPRA1:NM_001142646:exon3:c.240delT:p.F80Lfs*23,TPRA1:NM_001353006:exon3:c.240delT:p.F80Lfs*23,TPRA1:NM_001353001:exon4:c.240delT:p.F80Lfs*23,TPRA1:NM_001353002:exon4:c.240delT:p.F80Lfs*23,TPRA1:NM_001353003:exon4:c.240delT:p.F80Lfs*23,TPRA1:NM_001353005:exon4:c.240delT:p.F80Lfs*23,TPRA1:NM_001353007:exon4:c.240delT:p.F80Lfs*23,TPRA1:NM_001353004:exon5:c.240delT:p.F80Lfs*23",NA,NA,NA,NA,NA,NA
chr3,170078380,170078381,AC,-,P270959_F,SKIL,Frame_Shift_Del,NM_001145097,exon1,c.261_262del,p.T89Ifs*8,DEL,SNVindel,exonic,SKIL,NA,frameshift deletion,"SKIL:NM_001145097:exon1:c.261_262del:p.T89Ifs*8,SKIL:NM_001248008:exon1:c.261_262del:p.T89Ifs*8,SKIL:NM_005414:exon2:c.261_262del:p.T89Ifs*8,SKIL:NM_001145098:exon3:c.201_202del:p.T69Ifs*8",NA,NA,NA,NA,NA,NA
chr4,25032262,25032264,CAG,-,P270959_F,LGI2,In_Frame_Del,NM_018176,exon1,c.52_54del,p.L18del,DEL,SNVindel,exonic,LGI2,NA,nonframeshift deletion,LGI2:NM_018176:exon1:c.52_54del:p.L18del,NA,NA,NA,NA,NA,NA
chr4,71844994,71844994,-,T,P270959_F,MOB1B,Frame_Shift_Ins,NM_173468,exon5,c.560dupT,p.V190Cfs*8,SNP,SNVindel,exonic,MOB1B,NA,frameshift insertion,"MOB1B:NM_173468:exon5:c.560dupT:p.V190Cfs*8,MOB1B:NM_001244766:exon6:c.575dupT:p.V195Cfs*8",NA,NA,NA,NA,NA,NA
chr4,120213887,120213887,-,T,P270959_F,USP53,Frame_Shift_Ins,NM_001371396,exon16,c.2591dupT,p.C866Lfs*29,SNP,SNVindel,exonic,USP53,NA,frameshift insertion,"USP53:NM_001371396:exon16:c.2591dupT:p.C866Lfs*29,USP53:NM_001371399:exon17:c.2744dupT:p.C917Lfs*29,USP53:NM_019050:exon18:c.2744dupT:p.C917Lfs*29,USP53:NM_001371395:exon19:c.2744dupT:p.C917Lfs*29",NA,NA,NA,NA,NA,NA
chr4,123165028,123165028,-,A,P270959_F,KIAA1109,Frame_Shift_Ins,NM_015312,exon29,c.4763dupA,p.L1591Tfs*3,SNP,SNVindel,exonic,KIAA1109,NA,frameshift insertion,KIAA1109:NM_015312:exon29:c.4763dupA:p.L1591Tfs*3,NA,NA,NA,NA,NA,NA
chr5,31545786,31545786,-,A,P270959_F,C5orf22,Frame_Shift_Ins,NM_018356,exon7,c.1027dupA,p.R345Tfs*8,SNP,SNVindel,exonic,C5orf22,NA,frameshift insertion,C5orf22:NM_018356:exon7:c.1027dupA:p.R345Tfs*8,NA,NA,NA,NA,NA,NA
chr5,140867315,140867316,TA,-,P270959_F,PCDHGC4,Frame_Shift_Del,NM_032406,exon1,c.2575_2576del,p.Y859Cfs*8,DEL,SNVindel,exonic,PCDHGC4,NA,frameshift deletion,PCDHGC4:NM_032406:exon1:c.2575_2576del:p.Y859Cfs*8,NA,NA,NA,NA,NA,NA
chr5,150444542,150444542,T,-,P270959_F,TNIP1,Frame_Shift_Del,NM_001258455,exon1,c.115delA,p.M39Cfs*4,SNP,SNVindel,exonic,TNIP1,NA,frameshift deletion,"TNIP1:NM_001258455:exon1:c.115delA:p.M39Cfs*4,TNIP1:NM_001258456:exon1:c.115delA:p.M39Cfs*4,TNIP1:NM_001252385:exon2:c.115delA:p.M39Cfs*4,TNIP1:NM_001252390:exon2:c.115delA:p.M39Cfs*4,TNIP1:NM_001252391:exon2:c.115delA:p.M39Cfs*4,TNIP1:NM_001252392:exon2:c.115delA:p.M39Cfs*4,TNIP1:NM_001252393:exon2:c.115delA:p.M39Cfs*4,TNIP1:NM_001258454:exon2:c.115delA:p.M39Cfs*4,TNIP1:NM_001364487:exon2:c.115delA:p.M39Cfs*4,TNIP1:NM_006058:exon2:c.115delA:p.M39Cfs*4",NA,NA,NA,NA,NA,NA
chr7,2290328,2290328,-,AG,P270959_F,NUDT1,Nonstop_Mutation,NM_001367555,exon4,c.350_351insAG,p.*118delinsGDPPASASQSAGITEMRPCWFQLDQIPFKDMWPDDSYWFPLLLQKKKFHGYFKFQGQDTILDYTLREVDTV*,INS,SNVindel,exonic,NUDT1,NA,stoploss,"NUDT1:NM_001367555:exon4:c.350_351insAG:p.*118delinsGDPPASASQSAGITEMRPCWFQLDQIPFKDMWPDDSYWFPLLLQKKKFHGYFKFQGQDTILDYTLREVDTV*,NUDT1:NM_001367554:exon5:c.350_351insAG:p.*118delinsGDPPASASQSAGITEMRPCWFQLDQIPFKDMWPDDSYWFPLLLQKKKFHGYFKFQGQDTILDYTLREVDTV*",NA,NA,NA,NA,NA,NA
chr7,82586077,82586078,AA,-,P270959_F,PCLO,Frame_Shift_Del,NM_014510,exon5,c.4191_4192del,p.S1398Tfs*13,DEL,SNVindel,exonic,PCLO,NA,frameshift deletion,"PCLO:NM_014510:exon5:c.4191_4192del:p.S1398Tfs*13,PCLO:NM_033026:exon5:c.4191_4192del:p.S1398Tfs*13",NA,NA,NA,NA,NA,NA
chr7,111368431,111368431,-,G,P270959_F,DOCK4,Frame_Shift_Ins,NM_014705,exon52,c.5799dupC,p.K1934Qfs*18,SNP,SNVindel,exonic,DOCK4,NA,frameshift insertion,"DOCK4:NM_014705:exon52:c.5799dupC:p.K1934Qfs*18,DOCK4:NM_001363540:exon53:c.5826dupC:p.K1943Qfs*18",NA,NA,NA,NA,NA,NA
chr9,118916835,118916835,G,-,P270959_F,PAPPA,Frame_Shift_Del,NM_002581,exon1,c.384delG,p.G130Afs*7,SNP,SNVindel,exonic,PAPPA,NA,frameshift deletion,PAPPA:NM_002581:exon1:c.384delG:p.G130Afs*7,NA,NA,NA,NA,NA,NA
chr10,78771790,78771790,-,A,P270959_F,KCNMA1,Frame_Shift_Ins,NM_001161352,exon18,c.2026dupT,p.Y676Lfs*7,SNP,SNVindel,exonic,KCNMA1,NA,frameshift insertion,"KCNMA1:NM_001161352:exon18:c.2026dupT:p.Y676Lfs*7,KCNMA1:NM_001161353:exon18:c.2026dupT:p.Y676Lfs*7,KCNMA1:NM_001271518:exon18:c.1876dupT:p.Y626Lfs*7,KCNMA1:NM_001271519:exon18:c.2026dupT:p.Y676Lfs*7,KCNMA1:NM_001322829:exon18:c.2026dupT:p.Y676Lfs*7,KCNMA1:NM_001322832:exon18:c.2026dupT:p.Y676Lfs*7,KCNMA1:NM_001322836:exon18:c.2026dupT:p.Y676Lfs*7,KCNMA1:NM_002247:exon18:c.2026dupT:p.Y676Lfs*7,KCNMA1:NM_001014797:exon19:c.2038dupT:p.Y680Lfs*7,KCNMA1:NM_001322830:exon19:c.2038dupT:p.Y680Lfs*7,KCNMA1:NM_001322835:exon19:c.2038dupT:p.Y680Lfs*7,KCNMA1:NM_001322837:exon19:c.2038dupT:p.Y680Lfs*7,KCNMA1:NM_001322838:exon19:c.1486dupT:p.Y496Lfs*7",NA,NA,NA,NA,NA,NA
chr11,10874426,10874426,T,-,P270959_F,ZBED5,Frame_Shift_Del,NM_001143667,exon3,c.2067delA,p.K689Nfs*19,SNP,SNVindel,exonic,ZBED5,NA,frameshift deletion,"ZBED5:NM_001143667:exon3:c.2067delA:p.K689Nfs*19,ZBED5:NM_021211:exon3:c.2067delA:p.K689Nfs*19",NA,NA,NA,NA,NA,NA
chr11,118770651,118770651,-,G,P270959_F,BCL9L,Frame_Shift_Ins,NM_182557,exon7,c.3380dupC,p.P1128Tfs*42,SNP,SNVindel,exonic,BCL9L,NA,frameshift insertion,BCL9L:NM_182557:exon7:c.3380dupC:p.P1128Tfs*42,NA,NA,NA,NA,NA,NA
chr12,32996150,32996150,-,AG,P270959_F,PKP2,Nonsense_Mutation,NM_004572,exon6,c.1475_1476insCT,p.R493*,INS,SNVindel,exonic,PKP2,NA,stopgain,PKP2:NM_004572:exon6:c.1475_1476insCT:p.R493*,NA,NA,NA,NA,NA,NA
chr12,56558379,56558381,AGG,-,P270959_F,SMARCC2,In_Frame_Del,NM_003075,exon27,c.3274_3276del,p.P1092del,DEL,SNVindel,exonic,SMARCC2,NA,nonframeshift deletion,"SMARCC2:NM_003075:exon27:c.3274_3276del:p.P1092del,SMARCC2:NM_001330288:exon28:c.3367_3369del:p.P1123del",NA,NA,NA,NA,NA,NA
chr12,80201042,80201042,T,-,P270959_F,PPP1R12A,Frame_Shift_Del,NM_001143886,exon12,c.1358delA,p.N453Ifs*23,SNP,SNVindel,exonic,PPP1R12A,NA,frameshift deletion,"PPP1R12A:NM_001143886:exon12:c.1358delA:p.N453Ifs*23,PPP1R12A:NM_001244992:exon12:c.1619delA:p.N540Ifs*35,PPP1R12A:NM_002480:exon12:c.1619delA:p.N540Ifs*23,PPP1R12A:NM_001143885:exon13:c.1619delA:p.N540Ifs*23,PPP1R12A:NM_001244990:exon13:c.1619delA:p.N540Ifs*23",NA,NA,NA,NA,NA,NA
chr12,95681626,95681626,-,A,P270959_F,VEZT,Frame_Shift_Ins,NM_001352101,exon7,c.1084dupA,p.G364Rfs*4,SNP,SNVindel,exonic,VEZT,NA,frameshift insertion,"VEZT:NM_001352101:exon7:c.1084dupA:p.G364Rfs*4,VEZT:NM_001352105:exon7:c.1072dupA:p.G360Rfs*4,VEZT:NM_001352114:exon7:c.787dupA:p.G265Rfs*4,VEZT:NM_001352115:exon7:c.1084dupA:p.G364Rfs*4,VEZT:NM_001352119:exon7:c.1072dupA:p.G360Rfs*4,VEZT:NM_001352090:exon8:c.1426dupA:p.G478Rfs*4,VEZT:NM_001352099:exon8:c.1114dupA:p.G374Rfs*4,VEZT:NM_001352089:exon9:c.1528dupA:p.G512Rfs*4,VEZT:NM_001352091:exon9:c.1423dupA:p.G477Rfs*4,VEZT:NM_001352097:exon9:c.1294dupA:p.G434Rfs*4,VEZT:NM_001352098:exon9:c.1243dupA:p.G417Rfs*4,VEZT:NM_001352103:exon9:c.1072dupA:p.G360Rfs*4,VEZT:NM_001352107:exon9:c.1072dupA:p.G360Rfs*4,VEZT:NM_001352108:exon9:c.1528dupA:p.G512Rfs*4,VEZT:NM_001352109:exon9:c.1528dupA:p.G512Rfs*4,VEZT:NM_001352110:exon9:c.1516dupA:p.G508Rfs*4,VEZT:NM_001352111:exon9:c.1516dupA:p.G508Rfs*4,VEZT:NM_001352112:exon9:c.1423dupA:p.G477Rfs*4,VEZT:NM_001352116:exon9:c.1084dupA:p.G364Rfs*4,VEZT:NM_001352117:exon9:c.1084dupA:p.G364Rfs*4,VEZT:NM_017599:exon9:c.1516dupA:p.G508Rfs*4,VEZT:NM_001352088:exon10:c.1585dupA:p.G531Rfs*4,VEZT:NM_001352092:exon10:c.1384dupA:p.G464Rfs*4,VEZT:NM_001352093:exon10:c.1384dupA:p.G464Rfs*4,VEZT:NM_001352096:exon10:c.1372dupA:p.G460Rfs*4,VEZT:NM_001352100:exon10:c.1573dupA:p.G527Rfs*4,VEZT:NM_001352102:exon10:c.1084dupA:p.G364Rfs*4,VEZT:NM_001352104:exon10:c.1072dupA:p.G360Rfs*4,VEZT:NM_001352106:exon10:c.1072dupA:p.G360Rfs*4,VEZT:NM_001352113:exon10:c.1372dupA:p.G460Rfs*4,VEZT:NM_001352094:exon11:c.1372dupA:p.G460Rfs*4,VEZT:NM_001352095:exon11:c.1372dupA:p.G460Rfs*4,VEZT:NM_001352118:exon11:c.1072dupA:p.G360Rfs*4",NA,NA,NA,NA,NA,NA
chr15,56924284,56924284,-,T,P270959_F,ZNF280D,Frame_Shift_Ins,NM_001002843,exon21,c.2312dupA,p.N771Kfs*4,SNP,SNVindel,exonic,ZNF280D,NA,frameshift insertion,"ZNF280D:NM_001002843:exon21:c.2312dupA:p.N771Kfs*4,ZNF280D:NM_001288588:exon22:c.2351dupA:p.N784Kfs*4,ZNF280D:NM_017661:exon22:c.2351dupA:p.N784Kfs*4",NA,NA,NA,NA,NA,NA
chr15,65943101,65943103,GAG,-,P270959_F,SLC24A1,In_Frame_Del,NM_001254740,exon4,c.595_597del,p.E204del,DEL,SNVindel,exonic,SLC24A1,NA,nonframeshift deletion,"SLC24A1:NM_001254740:exon4:c.595_597del:p.E204del,SLC24A1:NM_001301032:exon5:c.2560_2562del:p.E859del,SLC24A1:NM_001301031:exon6:c.2614_2616del:p.E877del,SLC24A1:NM_004727:exon7:c.2614_2616del:p.E877del,SLC24A1:NM_001301033:exon8:c.2560_2562del:p.E859del",NA,NA,NA,NA,NA,NA
chr15,75499804,75499804,C,-,P270959_F,C15orf39,Frame_Shift_Del,NM_015492,exon2,c.1415delC,p.P474Qfs*91,SNP,SNVindel,exonic,C15orf39,NA,frameshift deletion,C15orf39:NM_015492:exon2:c.1415delC:p.P474Qfs*91,NA,NA,NA,NA,NA,NA
chr15,82519819,82519819,A,-,P270959_F,EFL1,Frame_Shift_Del,NM_001040610,exon9,c.1011delT,p.P338Hfs*7,SNP,SNVindel,exonic,EFL1,NA,frameshift deletion,"EFL1:NM_001040610:exon9:c.1011delT:p.P338Hfs*7,EFL1:NM_001322844:exon10:c.375delT:p.P126Hfs*7,EFL1:NM_001322845:exon11:c.1164delT:p.P389Hfs*7,EFL1:NM_024580:exon11:c.1164delT:p.P389Hfs*7",NA,NA,NA,NA,NA,NA
chr16,30016653,30016653,C,-,P270959_F,INO80E,Frame_Shift_Del,NM_001304562,exon6,c.508delC,p.T173Rfs*3,SNP,SNVindel,exonic,INO80E,NA,frameshift deletion,"INO80E:NM_001304562:exon6:c.508delC:p.T173Rfs*3,INO80E:NM_173618:exon7:c.625delC:p.T212Rfs*3",NA,NA,NA,NA,NA,NA
chr16,50368678,50368679,CT,-,P270959_F,BRD7,Frame_Shift_Del,NM_001173984,exon7,c.830_831del,p.E277Gfs*18,DEL,SNVindel,exonic,BRD7,NA,frameshift deletion,"BRD7:NM_001173984:exon7:c.830_831del:p.E277Gfs*18,BRD7:NM_013263:exon7:c.830_831del:p.E277Gfs*18",NA,NA,NA,NA,NA,NA
chr16,53358084,53358085,TT,-,P270959_F,CHD9,Frame_Shift_Del,NM_001308319,exon38,c.7971_7972del,p.L2658Vfs*47,DEL,SNVindel,exonic,CHD9,NA,frameshift deletion,"CHD9:NM_001308319:exon38:c.7971_7972del:p.L2658Vfs*47,CHD9:NM_001352156:exon38:c.6552_6553del:p.L2185Vfs*47,CHD9:NM_001352157:exon38:c.6504_6505del:p.L2169Vfs*47,CHD9:NM_001352158:exon38:c.6405_6406del:p.L2136Vfs*47,CHD9:NM_001352127:exon39:c.7923_7924del:p.L2642Vfs*47,CHD9:NM_025134:exon39:c.7923_7924del:p.L2642Vfs*47",NA,NA,NA,NA,NA,NA
chr16,89016910,89016910,G,-,P270959_F,LOC100129697,Frame_Shift_Del,NM_001290330,exon2,c.384delG,p.E129Sfs*298,SNP,SNVindel,exonic,LOC100129697,NA,frameshift deletion,LOC100129697:NM_001290330:exon2:c.384delG:p.E129Sfs*298,NA,NA,NA,NA,NA,NA
chr17,683957,683957,-,G,P270959_F,GLOD4,Frame_Shift_Ins,NM_001366247,exon2,c.111dupC,p.R38Qfs*14,SNP,SNVindel,exonic,GLOD4,NA,frameshift insertion,GLOD4:NM_001366247:exon2:c.111dupC:p.R38Qfs*14,NA,NA,NA,NA,NA,NA
chr19,31769141,31769141,-,C,P270959_F,TSHZ3,Frame_Shift_Ins,NM_020856,exon2,c.1557dupG,p.L520Afs*2,SNP,SNVindel,exonic,TSHZ3,NA,frameshift insertion,TSHZ3:NM_020856:exon2:c.1557dupG:p.L520Afs*2,NA,NA,NA,NA,NA,NA
chr19,38797556,38797556,-,AA,P270959_F,YIF1B,Nonsense_Mutation,NM_001145463,exon8,c.854_855insTT,p.R286*,INS,SNVindel,exonic,YIF1B,NA,stopgain,YIF1B:NM_001145463:exon8:c.854_855insTT:p.R286*,NA,NA,NA,NA,NA,NA
chr19,49850473,49850473,G,-,P270959_F,TEAD2,Frame_Shift_Del,NM_001256658,exon9,c.892delC,p.H298Mfs*12,SNP,SNVindel,exonic,TEAD2,NA,frameshift deletion,"TEAD2:NM_001256658:exon9:c.892delC:p.H298Mfs*12,TEAD2:NM_001256659:exon9:c.892delC:p.H298Mfs*12,TEAD2:NM_001256662:exon9:c.499delC:p.H167Mfs*12,TEAD2:NM_003598:exon9:c.883delC:p.H295Mfs*12,TEAD2:NM_001256660:exon10:c.895delC:p.H299Mfs*12,TEAD2:NM_001256661:exon10:c.895delC:p.H299Mfs*12",NA,NA,NA,NA,NA,NA
chr20,60887007,60887007,G,-,P270959_F,LAMA5,Frame_Shift_Del,NM_005560,exon70,c.9604delC,p.H3202Ifs*23,SNP,SNVindel,exonic,LAMA5,NA,frameshift deletion,LAMA5:NM_005560:exon70:c.9604delC:p.H3202Ifs*23,NA,NA,NA,NA,NA,NA
chr21,43815516,43815516,T,-,P270959_F,TMPRSS3,Frame_Shift_Del,NM_001256317,exon2,c.11delA,p.N4Mfs*21,SNP,SNVindel,exonic,TMPRSS3,NA,frameshift deletion,"TMPRSS3:NM_001256317:exon2:c.11delA:p.N4Mfs*21,TMPRSS3:NM_024022:exon2:c.11delA:p.N4Mfs*21,TMPRSS3:NM_032405:exon2:c.11delA:p.N4Mfs*21",NA,NA,NA,NA,NA,NA
chr22,47188443,47188443,-,C,P270959_F,TBC1D22A,Frame_Shift_Ins,NM_014346,exon2,c.90dupC,p.F33Lfs*2,SNP,SNVindel,exonic,TBC1D22A,NA,frameshift insertion,TBC1D22A:NM_014346:exon2:c.90dupC:p.F33Lfs*2,NA,NA,NA,NA,NA,NA
chrX,119694117,119694119,GAG,-,P270959_F,CUL4B,In_Frame_Del,NM_001079872,exon1,c.375_377del,p.S128del,DEL,SNVindel,exonic,CUL4B,NA,nonframeshift deletion,"CUL4B:NM_001079872:exon1:c.375_377del:p.S128del,CUL4B:NM_001330624:exon2:c.390_392del:p.S133del,CUL4B:NM_003588:exon3:c.429_431del:p.S146del",NA,NA,NA,NA,NA,NA
chrX,129493054,129493055,CT,-,P270959_F,SLC25A14,Frame_Shift_Del,NM_001282197,exon8,c.619_620del,p.L207Vfs*19,DEL,SNVindel,exonic,SLC25A14,NA,frameshift deletion,SLC25A14:NM_001282197:exon8:c.619_620del:p.L207Vfs*19,NA,NA,NA,NA,NA,NA
chrX,147010177,147010177,T,-,P270959_F,FMR1,Frame_Shift_Del,NM_001185075,exon5,c.271delT,p.Y92Mfs*2,SNP,SNVindel,exonic,FMR1,NA,frameshift deletion,"FMR1:NM_001185075:exon5:c.271delT:p.Y92Mfs*2,FMR1:NM_001185076:exon5:c.271delT:p.Y92Mfs*2,FMR1:NM_001185081:exon5:c.271delT:p.Y92Mfs*2,FMR1:NM_001185082:exon5:c.271delT:p.Y92Mfs*2,FMR1:NM_002024:exon5:c.271delT:p.Y92Mfs*2",NA,NA,NA,NA,NA,NA
chr1,109276138,109276138,A,-,P270959_S,FNDC7,Frame_Shift_Del,NM_001144937,exon10,c.2124delA,p.I711Yfs*4,SNP,SNVindel,exonic,FNDC7,NA,frameshift deletion,FNDC7:NM_001144937:exon10:c.2124delA:p.I711Yfs*4,NA,NA,NA,NA,NA,NA
chr1,155307999,155307999,-,T,P270959_S,ASH1L,Frame_Shift_Ins,NM_001366177,exon27,c.8698dupA,p.T2900Nfs*5,SNP,SNVindel,exonic,ASH1L,NA,frameshift insertion,"ASH1L:NM_001366177:exon27:c.8698dupA:p.T2900Nfs*5,ASH1L:NM_018489:exon27:c.8683dupA:p.T2895Nfs*5",NA,NA,NA,NA,NA,NA
chr1,156715103,156715103,-,A,P270959_S,HDGF,Frame_Shift_Ins,NM_001126050,exon2,c.197dupT,p.G67Rfs*63,SNP,SNVindel,exonic,HDGF,NA,frameshift insertion,"HDGF:NM_001126050:exon2:c.197dupT:p.G67Rfs*63,HDGF:NM_001126051:exon2:c.128dupT:p.G44Rfs*63,HDGF:NM_001319186:exon2:c.197dupT:p.G67Rfs*70,HDGF:NM_001319187:exon2:c.53dupT:p.G19Rfs*63,HDGF:NM_004494:exon2:c.149dupT:p.G51Rfs*63,HDGF:NM_001319188:exon3:c.53dupT:p.G19Rfs*63",NA,NA,NA,NA,NA,NA
chr1,186305675,186305675,-,T,P270959_S,TPR,Frame_Shift_Ins,NM_003292,exon33,c.4657dupA,p.T1553Nfs*24,SNP,SNVindel,exonic,TPR,NA,frameshift insertion,TPR:NM_003292:exon33:c.4657dupA:p.T1553Nfs*24,NA,NA,NA,NA,NA,NA
chr1,214818826,214818826,A,-,P270959_S,CENPF,Frame_Shift_Del,NM_016343,exon13,c.5913delA,p.T1974Pfs*11,SNP,SNVindel,exonic,CENPF,NA,frameshift deletion,CENPF:NM_016343:exon13:c.5913delA:p.T1974Pfs*11,NA,NA,NA,NA,NA,NA
chr2,48030639,48030639,-,C,P270959_S,MSH6,Frame_Shift_Ins,NM_001281492,exon3,c.2864dupC,p.F958Lfs*5,SNP,SNVindel,exonic,MSH6,NA,frameshift insertion,"MSH6:NM_001281492:exon3:c.2864dupC:p.F958Lfs*5,MSH6:NM_001281493:exon4:c.2348dupC:p.F786Lfs*5,MSH6:NM_000179:exon5:c.3254dupC:p.F1088Lfs*5,MSH6:NM_001281494:exon5:c.2348dupC:p.F786Lfs*5",NA,NA,NA,NA,NA,NA
chr2,130832989,130832989,T,-,P270959_S,POTEF,Frame_Shift_Del,NM_001099771,exon17,c.2056delA,p.R686Gfs*6,SNP,SNVindel,exonic,POTEF,NA,frameshift deletion,POTEF:NM_001099771:exon17:c.2056delA:p.R686Gfs*6,NA,NA,NA,NA,NA,NA
chr2,166905432,166905432,A,-,P270959_S,SCN1A,Nonsense_Mutation,NM_001353948,exon8,c.992delT,p.L331*,SNP,SNVindel,exonic,SCN1A,NA,stopgain,"SCN1A:NM_001353948:exon8:c.992delT:p.L331*,SCN1A:NM_001353949:exon8:c.992delT:p.L331*,SCN1A:NM_001353951:exon8:c.992delT:p.L331*,SCN1A:NM_001353955:exon8:c.992delT:p.L331*,SCN1A:NM_001353957:exon8:c.992delT:p.L331*,SCN1A:NM_001165964:exon9:c.992delT:p.L331*,SCN1A:NM_001202435:exon9:c.992delT:p.L331*,SCN1A:NM_001353950:exon9:c.992delT:p.L331*,SCN1A:NM_001353952:exon9:c.992delT:p.L331*,SCN1A:NM_001353954:exon9:c.992delT:p.L331*,SCN1A:NM_001353958:exon9:c.992delT:p.L331*,SCN1A:NM_001353960:exon9:c.992delT:p.L331*,SCN1A:NM_001165963:exon10:c.992delT:p.L331*,SCN1A:NM_006920:exon10:c.992delT:p.L331*",NA,NA,NA,NA,NA,NA
chr2,175213712,175213712,-,T,P270959_S,CIR1,Frame_Shift_Ins,NM_004882,exon10,c.865dupA,p.I289Nfs*15,SNP,SNVindel,exonic,CIR1,NA,frameshift insertion,CIR1:NM_004882:exon10:c.865dupA:p.I289Nfs*15,NA,NA,NA,NA,NA,NA
chr3,42679486,42679486,A,-,P270959_S,NKTR,Frame_Shift_Del,NM_001349124,exon13,c.2290delA,p.N766Ifs*30,SNP,SNVindel,exonic,NKTR,NA,frameshift deletion,"NKTR:NM_001349124:exon13:c.2290delA:p.N766Ifs*30,NKTR:NM_005385:exon13:c.2290delA:p.N766Ifs*30,NKTR:NM_001349125:exon15:c.1531delA:p.N513Ifs*30,NKTR:NM_001349126:exon15:c.1186delA:p.N398Ifs*30",NA,NA,NA,NA,NA,NA
chr3,53904149,53904151,TCT,-,P270959_S,ACTR8,In_Frame_Del,NM_022899,exon12,c.1589_1591del,p.K530del,DEL,SNVindel,exonic,ACTR8,NA,nonframeshift deletion,ACTR8:NM_022899:exon12:c.1589_1591del:p.K530del,NA,NA,NA,NA,NA,NA
chr3,99568705,99568705,-,T,P270959_S,FILIP1L,Frame_Shift_Ins,NM_001282794,exon2,c.1094dupA,p.N365Kfs*20,SNP,SNVindel,exonic,FILIP1L,NA,frameshift insertion,"FILIP1L:NM_001282794:exon2:c.1094dupA:p.N365Kfs*20,FILIP1L:NM_014890:exon2:c.1094dupA:p.N365Kfs*20,FILIP1L:NM_001282793:exon3:c.542dupA:p.N181Kfs*20,FILIP1L:NM_001370247:exon3:c.1094dupA:p.N365Kfs*20,FILIP1L:NM_001042459:exon5:c.1814dupA:p.N605Kfs*20,FILIP1L:NM_182909:exon5:c.1814dupA:p.N605Kfs*20",NA,NA,NA,NA,NA,NA
chr3,127298601,127298601,A,-,P270959_S,TPRA1,Frame_Shift_Del,NM_001136053,exon3,c.240delT,p.F80Lfs*23,SNP,SNVindel,exonic,TPRA1,NA,frameshift deletion,"TPRA1:NM_001136053:exon3:c.240delT:p.F80Lfs*23,TPRA1:NM_001142646:exon3:c.240delT:p.F80Lfs*23,TPRA1:NM_001353006:exon3:c.240delT:p.F80Lfs*23,TPRA1:NM_001353001:exon4:c.240delT:p.F80Lfs*23,TPRA1:NM_001353002:exon4:c.240delT:p.F80Lfs*23,TPRA1:NM_001353003:exon4:c.240delT:p.F80Lfs*23,TPRA1:NM_001353005:exon4:c.240delT:p.F80Lfs*23,TPRA1:NM_001353007:exon4:c.240delT:p.F80Lfs*23,TPRA1:NM_001353004:exon5:c.240delT:p.F80Lfs*23",NA,NA,NA,NA,NA,NA
chr3,170078380,170078381,AC,-,P270959_S,SKIL,Frame_Shift_Del,NM_001145097,exon1,c.261_262del,p.T89Ifs*8,DEL,SNVindel,exonic,SKIL,NA,frameshift deletion,"SKIL:NM_001145097:exon1:c.261_262del:p.T89Ifs*8,SKIL:NM_001248008:exon1:c.261_262del:p.T89Ifs*8,SKIL:NM_005414:exon2:c.261_262del:p.T89Ifs*8,SKIL:NM_001145098:exon3:c.201_202del:p.T69Ifs*8",NA,NA,NA,NA,NA,NA
chr4,120213887,120213887,-,T,P270959_S,USP53,Frame_Shift_Ins,NM_001371396,exon16,c.2591dupT,p.C866Lfs*29,SNP,SNVindel,exonic,USP53,NA,frameshift insertion,"USP53:NM_001371396:exon16:c.2591dupT:p.C866Lfs*29,USP53:NM_001371399:exon17:c.2744dupT:p.C917Lfs*29,USP53:NM_019050:exon18:c.2744dupT:p.C917Lfs*29,USP53:NM_001371395:exon19:c.2744dupT:p.C917Lfs*29",NA,NA,NA,NA,NA,NA
chr5,31545786,31545786,-,A,P270959_S,C5orf22,Frame_Shift_Ins,NM_018356,exon7,c.1027dupA,p.R345Tfs*8,SNP,SNVindel,exonic,C5orf22,NA,frameshift insertion,C5orf22:NM_018356:exon7:c.1027dupA:p.R345Tfs*8,NA,NA,NA,NA,NA,NA
chr5,82833267,82833274,AGCCTGAG,-,P270959_S,VCAN,Frame_Shift_Del,NM_001164097,exon7,c.1484_1491del,p.K495Nfs*4,DEL,SNVindel,exonic,VCAN,NA,frameshift deletion,"VCAN:NM_001164097:exon7:c.1484_1491del:p.K495Nfs*4,VCAN:NM_004385:exon8:c.4445_4452del:p.K1482Nfs*4",NA,NA,NA,NA,NA,NA
chr6,111587361,111587361,T,-,P270959_S,MFSD4B,Frame_Shift_Del,NM_153369,exon4,c.596delT,p.C202Vfs*4,SNP,SNVindel,exonic,MFSD4B,NA,frameshift deletion,MFSD4B:NM_153369:exon4:c.596delT:p.C202Vfs*4,NA,NA,NA,NA,NA,NA
chr6,121769025,121769025,-,A,P270959_S,GJA1,Frame_Shift_Ins,NM_000165,exon2,c.1033dupA,p.L347Tfs*6,SNP,SNVindel,exonic,GJA1,NA,frameshift insertion,GJA1:NM_000165:exon2:c.1033dupA:p.L347Tfs*6,NA,NA,NA,NA,NA,NA
chr7,82586077,82586078,AA,-,P270959_S,PCLO,Frame_Shift_Del,NM_014510,exon5,c.4191_4192del,p.S1398Tfs*13,DEL,SNVindel,exonic,PCLO,NA,frameshift deletion,"PCLO:NM_014510:exon5:c.4191_4192del:p.S1398Tfs*13,PCLO:NM_033026:exon5:c.4191_4192del:p.S1398Tfs*13",NA,NA,NA,NA,NA,NA
chr7,111368431,111368431,-,G,P270959_S,DOCK4,Frame_Shift_Ins,NM_014705,exon52,c.5799dupC,p.K1934Qfs*18,SNP,SNVindel,exonic,DOCK4,NA,frameshift insertion,"DOCK4:NM_014705:exon52:c.5799dupC:p.K1934Qfs*18,DOCK4:NM_001363540:exon53:c.5826dupC:p.K1943Qfs*18",NA,NA,NA,NA,NA,NA
chr8,133150232,133150232,-,T,P270959_S,KCNQ3,Frame_Shift_Ins,NM_001204824,exon12,c.1239dupA,p.F414Ifs*15,SNP,SNVindel,exonic,KCNQ3,NA,frameshift insertion,"KCNQ3:NM_001204824:exon12:c.1239dupA:p.F414Ifs*15,KCNQ3:NM_004519:exon12:c.1599dupA:p.F534Ifs*15",NA,NA,NA,NA,NA,NA
chr9,20414311,20414313,CTG,-,P270959_S,MLLT3,In_Frame_Del,NM_001286691,exon5,c.522_524del,p.S187del,DEL,SNVindel,exonic,MLLT3,NA,nonframeshift deletion,"MLLT3:NM_001286691:exon5:c.522_524del:p.S187del,MLLT3:NM_004529:exon5:c.531_533del:p.S190del",NA,NA,NA,NA,NA,NA
chr9,73399105,73399105,G,-,P270959_S,TRPM3,Frame_Shift_Del,NM_001007471,exon7,c.1064delC,p.P355Lfs*30,SNP,SNVindel,exonic,TRPM3,NA,frameshift deletion,"TRPM3:NM_001007471:exon7:c.1064delC:p.P355Lfs*30,TRPM3:NM_001366141:exon7:c.1070delC:p.P357Lfs*30,TRPM3:NM_001366142:exon7:c.1070delC:p.P357Lfs*30,TRPM3:NM_001366143:exon7:c.1070delC:p.P357Lfs*30,TRPM3:NM_001366144:exon7:c.1070delC:p.P357Lfs*31,TRPM3:NM_001366145:exon7:c.1064delC:p.P355Lfs*30,TRPM3:NM_001366146:exon7:c.1064delC:p.P355Lfs*30,TRPM3:NM_001366149:exon7:c.1064delC:p.P355Lfs*30,TRPM3:NM_001366150:exon7:c.1064delC:p.P355Lfs*30,TRPM3:NM_001366151:exon7:c.1064delC:p.P355Lfs*30,TRPM3:NM_001366153:exon7:c.1064delC:p.P355Lfs*31,TRPM3:NM_001366154:exon7:c.605delC:p.P202Lfs*30,TRPM3:NM_020952:exon7:c.605delC:p.P202Lfs*30,TRPM3:NM_024971:exon7:c.605delC:p.P202Lfs*30,TRPM3:NM_206944:exon7:c.605delC:p.P202Lfs*30,TRPM3:NM_206945:exon7:c.605delC:p.P202Lfs*30,TRPM3:NM_206948:exon7:c.605delC:p.P202Lfs*31,TRPM3:NM_001007470:exon8:c.680delC:p.P227Lfs*31,TRPM3:NM_001366147:exon8:c.1139delC:p.P380Lfs*30,TRPM3:NM_001366148:exon8:c.1139delC:p.P380Lfs*30,TRPM3:NM_001366152:exon8:c.1139delC:p.P380Lfs*30,TRPM3:NM_206946:exon8:c.680delC:p.P227Lfs*30,TRPM3:NM_206947:exon8:c.680delC:p.P227Lfs*30",NA,NA,NA,NA,NA,NA
chr9,114125874,114125874,-,T,P270959_S,ECPAS,Frame_Shift_Ins,NM_001363756,exon48,c.5373dupA,p.L1792Tfs*2,SNP,SNVindel,exonic,ECPAS,NA,frameshift insertion,"ECPAS:NM_001363756:exon48:c.5373dupA:p.L1792Tfs*2,ECPAS:NM_001364931:exon48:c.5391dupA:p.L1798Tfs*2,ECPAS:NM_001364929:exon49:c.5373dupA:p.L1792Tfs*2,ECPAS:NM_001364930:exon49:c.5373dupA:p.L1792Tfs*2",NA,NA,NA,NA,NA,NA
chr9,130453098,130453098,A,-,P270959_S,STXBP1,Frame_Shift_Del,NM_001032221,exon19,c.1747delA,p.K583Rfs*3,SNP,SNVindel,exonic,STXBP1,NA,frameshift deletion,STXBP1:NM_001032221:exon19:c.1747delA:p.K583Rfs*3,NA,NA,NA,NA,NA,NA
chr10,17373448,17373448,-,T,P270959_S,ST8SIA6,Frame_Shift_Ins,NM_001004470,exon5,c.480dupA,p.E161Rfs*5,SNP,SNVindel,exonic,ST8SIA6,NA,frameshift insertion,"ST8SIA6:NM_001004470:exon5:c.480dupA:p.E161Rfs*5,ST8SIA6:NM_001345961:exon6:c.27dupA:p.E10Rfs*5",NA,NA,NA,NA,NA,NA
chr10,118404568,118404573,CTGTGG,-,P270959_S,PNLIPRP2,Unknown,NA,NA,NA,NA,DEL,SNVindel,exonic,PNLIPRP2,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr10,118728182,118728182,T,-,P270959_S,SHTN1,Frame_Shift_Del,NM_001127211,exon3,c.153delA,p.K51Nfs*13,SNP,SNVindel,exonic,SHTN1,NA,frameshift deletion,"SHTN1:NM_001127211:exon3:c.153delA:p.K51Nfs*13,SHTN1:NM_001258299:exon3:c.153delA:p.K51Nfs*13,SHTN1:NM_018330:exon3:c.153delA:p.K51Nfs*13",NA,NA,NA,NA,NA,NA
chr11,6662746,6662748,CAG,-,P270959_S,DCHS1,In_Frame_Del,NM_003737,exon2,c.97_99del,p.L33del,DEL,SNVindel,exonic,DCHS1,NA,nonframeshift deletion,DCHS1:NM_003737:exon2:c.97_99del:p.L33del,NA,NA,NA,NA,NA,NA
chr11,63149671,63149671,A,-,P270959_S,SLC22A9,Frame_Shift_Del,NM_080866,exon6,c.995delA,p.K335Nfs*67,SNP,SNVindel,exonic,SLC22A9,NA,frameshift deletion,SLC22A9:NM_080866:exon6:c.995delA:p.K335Nfs*67,NA,NA,NA,NA,NA,NA
chr11,89444610,89444610,-,A,P270959_S,TRIM77,Frame_Shift_Ins,NM_001146162,exon2,c.445dupA,p.Q152Tfs*31,SNP,SNVindel,exonic,TRIM77,NA,frameshift insertion,"TRIM77:NM_001146162:exon2:c.445dupA:p.Q152Tfs*31,TRIM77:NM_001271942:exon2:c.445dupA:p.Q152Tfs*28",NA,NA,NA,NA,NA,NA
chr11,115080312,115080317,TGGTGG,-,P270959_S,CADM1,In_Frame_Del,NM_001301043,exon8,c.1055_1060del,p.T352_T353del,DEL,SNVindel,exonic,CADM1,NA,nonframeshift deletion,"CADM1:NM_001301043:exon8:c.1055_1060del:p.T352_T353del,CADM1:NM_001301044:exon8:c.1055_1060del:p.T352_T353del,CADM1:NM_014333:exon8:c.1055_1060del:p.T352_T353del",NA,NA,NA,NA,NA,NA
chr11,118770651,118770651,-,G,P270959_S,BCL9L,Frame_Shift_Ins,NM_182557,exon7,c.3380dupC,p.P1128Tfs*42,SNP,SNVindel,exonic,BCL9L,NA,frameshift insertion,BCL9L:NM_182557:exon7:c.3380dupC:p.P1128Tfs*42,NA,NA,NA,NA,NA,NA
chr12,80201042,80201042,T,-,P270959_S,PPP1R12A,Frame_Shift_Del,NM_001143886,exon12,c.1358delA,p.N453Ifs*23,SNP,SNVindel,exonic,PPP1R12A,NA,frameshift deletion,"PPP1R12A:NM_001143886:exon12:c.1358delA:p.N453Ifs*23,PPP1R12A:NM_001244992:exon12:c.1619delA:p.N540Ifs*35,PPP1R12A:NM_002480:exon12:c.1619delA:p.N540Ifs*23,PPP1R12A:NM_001143885:exon13:c.1619delA:p.N540Ifs*23,PPP1R12A:NM_001244990:exon13:c.1619delA:p.N540Ifs*23",NA,NA,NA,NA,NA,NA
chr14,24040435,24040435,-,C,P270959_S,JPH4,Frame_Shift_Ins,NM_001146028,exon5,c.1504dupG,p.A502Gfs*12,SNP,SNVindel,exonic,JPH4,NA,frameshift insertion,"JPH4:NM_001146028:exon5:c.1504dupG:p.A502Gfs*12,JPH4:NM_032452:exon6:c.1504dupG:p.A502Gfs*12",NA,NA,NA,NA,NA,NA
chr14,39746242,39746242,-,T,P270959_S,MIA2,Frame_Shift_Ins,NM_001247988,exon2,c.82dupT,p.L30Ffs*6,SNP,SNVindel,exonic,MIA2,NA,frameshift insertion,"MIA2:NM_001247988:exon2:c.82dupT:p.L30Ffs*6,MIA2:NM_001247989:exon2:c.169dupT:p.L59Ffs*6,MIA2:NM_001354137:exon2:c.82dupT:p.L30Ffs*6,MIA2:NM_001354138:exon2:c.82dupT:p.L30Ffs*6,MIA2:NM_001354139:exon2:c.82dupT:p.L30Ffs*6,MIA2:NM_001354146:exon2:c.133dupT:p.L47Ffs*6,MIA2:NM_001354147:exon2:c.82dupT:p.L30Ffs*6,MIA2:NM_001354148:exon2:c.82dupT:p.L30Ffs*6,MIA2:NM_001354149:exon2:c.82dupT:p.L30Ffs*6,MIA2:NM_001354150:exon2:c.151dupT:p.L53Ffs*6,MIA2:NM_001354151:exon2:c.169dupT:p.L59Ffs*6,MIA2:NM_001354152:exon2:c.169dupT:p.L59Ffs*6,MIA2:NM_001354153:exon2:c.169dupT:p.L59Ffs*6,MIA2:NM_001354154:exon2:c.169dupT:p.L59Ffs*6,MIA2:NM_001354155:exon2:c.169dupT:p.L59Ffs*6,MIA2:NM_001354157:exon2:c.169dupT:p.L59Ffs*6,MIA2:NM_005930:exon2:c.169dupT:p.L59Ffs*6,MIA2:NM_203354:exon2:c.133dupT:p.L47Ffs*6,MIA2:NM_203355:exon2:c.169dupT:p.L59Ffs*6,MIA2:NM_203356:exon2:c.82dupT:p.L30Ffs*6,MIA2:NM_001329214:exon7:c.1993dupT:p.L667Ffs*6",NA,NA,NA,NA,NA,NA
chr14,95662948,95662948,-,T,P270959_S,CLMN,Frame_Shift_Ins,NM_024734,exon10,c.2594dupA,p.E866Gfs*25,SNP,SNVindel,exonic,CLMN,NA,frameshift insertion,CLMN:NM_024734:exon10:c.2594dupA:p.E866Gfs*25,NA,NA,NA,NA,NA,NA
chr15,40917784,40917784,-,A,P270959_S,KNL1,Frame_Shift_Ins,NM_144508,exon10,c.5323dupA,p.I1777Nfs*5,SNP,SNVindel,exonic,KNL1,NA,frameshift insertion,"KNL1:NM_144508:exon10:c.5323dupA:p.I1777Nfs*5,KNL1:NM_170589:exon11:c.5401dupA:p.I1803Nfs*5",NA,NA,NA,NA,NA,NA
chr15,56924284,56924284,-,T,P270959_S,ZNF280D,Frame_Shift_Ins,NM_001002843,exon21,c.2312dupA,p.N771Kfs*4,SNP,SNVindel,exonic,ZNF280D,NA,frameshift insertion,"ZNF280D:NM_001002843:exon21:c.2312dupA:p.N771Kfs*4,ZNF280D:NM_001288588:exon22:c.2351dupA:p.N784Kfs*4,ZNF280D:NM_017661:exon22:c.2351dupA:p.N784Kfs*4",NA,NA,NA,NA,NA,NA
chr16,50368678,50368679,CT,-,P270959_S,BRD7,Frame_Shift_Del,NM_001173984,exon7,c.830_831del,p.E277Gfs*18,DEL,SNVindel,exonic,BRD7,NA,frameshift deletion,"BRD7:NM_001173984:exon7:c.830_831del:p.E277Gfs*18,BRD7:NM_013263:exon7:c.830_831del:p.E277Gfs*18",NA,NA,NA,NA,NA,NA
chr16,53358084,53358085,TT,-,P270959_S,CHD9,Frame_Shift_Del,NM_001308319,exon38,c.7971_7972del,p.L2658Vfs*47,DEL,SNVindel,exonic,CHD9,NA,frameshift deletion,"CHD9:NM_001308319:exon38:c.7971_7972del:p.L2658Vfs*47,CHD9:NM_001352156:exon38:c.6552_6553del:p.L2185Vfs*47,CHD9:NM_001352157:exon38:c.6504_6505del:p.L2169Vfs*47,CHD9:NM_001352158:exon38:c.6405_6406del:p.L2136Vfs*47,CHD9:NM_001352127:exon39:c.7923_7924del:p.L2642Vfs*47,CHD9:NM_025134:exon39:c.7923_7924del:p.L2642Vfs*47",NA,NA,NA,NA,NA,NA
chr17,57247171,57247171,A,-,P270959_S,PRR11,Frame_Shift_Del,NM_018304,exon2,c.58delA,p.E23Kfs*9,SNP,SNVindel,exonic,PRR11,NA,frameshift deletion,PRR11:NM_018304:exon2:c.58delA:p.E23Kfs*9,NA,NA,NA,NA,NA,NA
chr19,8670177,8670177,-,C,P270959_S,ADAMTS10,Frame_Shift_Ins,NM_030957,exon4,c.154dupG,p.A52Gfs*108,SNP,SNVindel,exonic,ADAMTS10,NA,frameshift insertion,ADAMTS10:NM_030957:exon4:c.154dupG:p.A52Gfs*108,NA,NA,NA,NA,NA,NA
chr19,31769141,31769141,-,C,P270959_S,TSHZ3,Frame_Shift_Ins,NM_020856,exon2,c.1557dupG,p.L520Afs*2,SNP,SNVindel,exonic,TSHZ3,NA,frameshift insertion,TSHZ3:NM_020856:exon2:c.1557dupG:p.L520Afs*2,NA,NA,NA,NA,NA,NA
chr19,49850473,49850473,G,-,P270959_S,TEAD2,Frame_Shift_Del,NM_001256658,exon9,c.892delC,p.H298Mfs*12,SNP,SNVindel,exonic,TEAD2,NA,frameshift deletion,"TEAD2:NM_001256658:exon9:c.892delC:p.H298Mfs*12,TEAD2:NM_001256659:exon9:c.892delC:p.H298Mfs*12,TEAD2:NM_001256662:exon9:c.499delC:p.H167Mfs*12,TEAD2:NM_003598:exon9:c.883delC:p.H295Mfs*12,TEAD2:NM_001256660:exon10:c.895delC:p.H299Mfs*12,TEAD2:NM_001256661:exon10:c.895delC:p.H299Mfs*12",NA,NA,NA,NA,NA,NA
chr19,55593835,55593835,-,G,P270959_S,EPS8L1,Frame_Shift_Ins,NM_017729,exon7,c.699dupG,p.P236Afs*28,SNP,SNVindel,exonic,EPS8L1,NA,frameshift insertion,"EPS8L1:NM_017729:exon7:c.699dupG:p.P236Afs*28,EPS8L1:NM_133180:exon12:c.1080dupG:p.P363Afs*28",NA,NA,NA,NA,NA,NA
chr20,31041555,31041555,-,G,P270959_S,NOL4L,Frame_Shift_Ins,NM_001351680,exon4,c.396dupC,p.Y133Lfs*18,SNP,SNVindel,exonic,NOL4L,NA,frameshift insertion,"NOL4L:NM_001351680:exon4:c.396dupC:p.Y133Lfs*18,NOL4L:NM_080616:exon4:c.396dupC:p.Y133Lfs*18,NOL4L:NM_001256798:exon7:c.1128dupC:p.Y377Lfs*18",NA,NA,NA,NA,NA,NA
chr21,47663396,47663396,-,G,P270959_S,MCM3AP,Frame_Shift_Ins,NM_003906,exon24,c.5278dupC,p.R1760Pfs*11,SNP,SNVindel,exonic,MCM3AP,NA,frameshift insertion,MCM3AP:NM_003906:exon24:c.5278dupC:p.R1760Pfs*11,NA,NA,NA,NA,NA,NA
chr22,35661575,35661576,AG,-,P270959_S,HMGXB4,Frame_Shift_Del,NM_001362972,exon4,c.867_868del,p.G294Rfs*16,DEL,SNVindel,exonic,HMGXB4,NA,frameshift deletion,"HMGXB4:NM_001362972:exon4:c.867_868del:p.G294Rfs*16,HMGXB4:NM_001003681:exon5:c.1194_1195del:p.G403Rfs*16",NA,NA,NA,NA,NA,NA
chr22,47188443,47188443,-,C,P270959_S,TBC1D22A,Frame_Shift_Ins,NM_014346,exon2,c.90dupC,p.F33Lfs*2,SNP,SNVindel,exonic,TBC1D22A,NA,frameshift insertion,TBC1D22A:NM_014346:exon2:c.90dupC:p.F33Lfs*2,NA,NA,NA,NA,NA,NA
chrX,136659358,136659373,AGCCCTCCATAACACT,-,P270959_S,ZIC3,Frame_Shift_Del,NM_001330661,exon3,c.1302_1317del,p.A435Pfs*16,DEL,SNVindel,exonic,ZIC3,NA,frameshift deletion,ZIC3:NM_001330661:exon3:c.1302_1317del:p.A435Pfs*16,NA,NA,NA,NA,NA,NA
chrX,147010177,147010177,T,-,P270959_S,FMR1,Frame_Shift_Del,NM_001185075,exon5,c.271delT,p.Y92Mfs*2,SNP,SNVindel,exonic,FMR1,NA,frameshift deletion,"FMR1:NM_001185075:exon5:c.271delT:p.Y92Mfs*2,FMR1:NM_001185076:exon5:c.271delT:p.Y92Mfs*2,FMR1:NM_001185081:exon5:c.271delT:p.Y92Mfs*2,FMR1:NM_001185082:exon5:c.271delT:p.Y92Mfs*2,FMR1:NM_002024:exon5:c.271delT:p.Y92Mfs*2",NA,NA,NA,NA,NA,NA
chr1,1356342,1356344,TCC,-,P277337_F,ANKRD65,In_Frame_Del,NM_001145210,exon2,c.42_44del,p.E15del,DEL,SNVindel,exonic,ANKRD65,NA,nonframeshift deletion,"ANKRD65:NM_001145210:exon2:c.42_44del:p.E15del,ANKRD65:NM_001243535:exon2:c.42_44del:p.E15del,ANKRD65:NM_001243536:exon2:c.42_44del:p.E15del",NA,NA,NA,NA,NA,NA
chr3,48965064,48965066,GAA,-,P277337_F,ARIH2,In_Frame_Del,NM_001349211,exon2,c.73_75del,p.E29del,DEL,SNVindel,exonic,ARIH2,NA,nonframeshift deletion,"ARIH2:NM_001349211:exon2:c.73_75del:p.E29del,ARIH2:NM_001349209:exon3:c.73_75del:p.E29del,ARIH2:NM_001349214:exon3:c.73_75del:p.E29del,ARIH2:NM_001349215:exon3:c.73_75del:p.E29del,ARIH2:NM_001349229:exon3:c.73_75del:p.E29del,ARIH2:NM_006321:exon3:c.73_75del:p.E29del,ARIH2:NM_001317333:exon4:c.73_75del:p.E29del,ARIH2:NM_001349213:exon4:c.73_75del:p.E29del,ARIH2:NM_001349228:exon4:c.73_75del:p.E29del,ARIH2:NM_001349210:exon5:c.73_75del:p.E29del,ARIH2:NM_001349230:exon5:c.73_75del:p.E29del",NA,NA,NA,NA,NA,NA
chr5,140502486,140502486,-,A,P277337_F,PCDHB4,Frame_Shift_Ins,NM_018938,exon1,c.907dupA,p.L306Ifs*7,SNP,SNVindel,exonic,PCDHB4,NA,frameshift insertion,PCDHB4:NM_018938:exon1:c.907dupA:p.L306Ifs*7,NA,NA,NA,NA,NA,NA
chr7,149129500,149129500,G,-,P277337_F,ZNF777,Frame_Shift_Del,NM_015694,exon6,c.1863delC,p.K622Sfs*30,SNP,SNVindel,exonic,ZNF777,NA,frameshift deletion,ZNF777:NM_015694:exon6:c.1863delC:p.K622Sfs*30,NA,NA,NA,NA,NA,NA
chr8,12957611,12957613,GCT,-,P277337_F,DLC1,In_Frame_Del,NM_001348084,exon4,c.700_702del,p.S234del,DEL,SNVindel,exonic,DLC1,NA,nonframeshift deletion,"DLC1:NM_001348084:exon4:c.700_702del:p.S234del,DLC1:NM_001164271:exon5:c.700_702del:p.S234del,DLC1:NM_001316668:exon5:c.1024_1026del:p.S342del,DLC1:NM_001348083:exon5:c.700_702del:p.S234del,DLC1:NM_006094:exon5:c.922_924del:p.S308del,DLC1:NM_001348082:exon8:c.700_702del:p.S234del,DLC1:NM_001348081:exon9:c.2233_2235del:p.S745del,DLC1:NM_182643:exon9:c.2233_2235del:p.S745del",NA,NA,NA,NA,NA,NA
chr15,72767215,72767217,GGC,-,P277337_F,ARIH1,In_Frame_Del,NM_005744,exon1,c.235_237del,p.G90del,DEL,SNVindel,exonic,ARIH1,NA,nonframeshift deletion,ARIH1:NM_005744:exon1:c.235_237del:p.G90del,NA,NA,NA,NA,NA,NA
chr19,44740979,44740979,T,-,P277337_F,ZNF227,Nonstop_Mutation,NM_001289170,exon4,c.2159delT,p.*721delinsRNEKCVTNFCLNAHLQVFG*,SNP,SNVindel,exonic,ZNF227,NA,stoploss,"ZNF227:NM_001289170:exon4:c.2159delT:p.*721delinsRNEKCVTNFCLNAHLQVFG*,ZNF227:NM_001289171:exon4:c.2159delT:p.*721delinsRNEKCVTNFCLNAHLQVFG*,ZNF227:NM_001289172:exon4:c.2105delT:p.*703delinsRNEKCVTNFCLNAHLQVFG*,ZNF227:NM_001289168:exon5:c.2243delT:p.*749delinsRNEKCVTNFCLNAHLQVFG*,ZNF227:NM_001289169:exon5:c.2243delT:p.*749delinsRNEKCVTNFCLNAHLQVFG*,ZNF227:NM_001289173:exon5:c.2312delT:p.*772delinsRNEKCVTNFCLNAHLQVFG*,ZNF227:NM_001289166:exon6:c.2396delT:p.*800delinsRNEKCVTNFCLNAHLQVFG*,ZNF227:NM_001289167:exon6:c.2243delT:p.*749delinsRNEKCVTNFCLNAHLQVFG*,ZNF227:NM_182490:exon6:c.2396delT:p.*800delinsRNEKCVTNFCLNAHLQVFG*",NA,NA,NA,NA,NA,NA
chr19,56133524,56133526,CCG,-,P277337_F,ZNF784,In_Frame_Del,NM_203374,exon2,c.563_565del,p.A188del,DEL,SNVindel,exonic,ZNF784,NA,nonframeshift deletion,ZNF784:NM_203374:exon2:c.563_565del:p.A188del,NA,NA,NA,NA,NA,NA
chr20,1559024,1559025,CA,-,P277337_F,SIRPB1,Frame_Shift_Del,NM_001083910,exon2,c.392_393del,p.V131Gfs*3,DEL,SNVindel,exonic,SIRPB1,NA,frameshift deletion,"SIRPB1:NM_001083910:exon2:c.392_393del:p.V131Gfs*3,SIRPB1:NM_001330639:exon2:c.389_390del:p.V130Gfs*3,SIRPB1:NM_006065:exon2:c.392_393del:p.V131Gfs*3",NA,NA,NA,NA,NA,NA
chr20,1559029,1559029,C,-,P277337_F,SIRPB1,Frame_Shift_Del,NM_001083910,exon2,c.388delG,p.D130Tfs*27,SNP,SNVindel,exonic,SIRPB1,NA,frameshift deletion,"SIRPB1:NM_001083910:exon2:c.388delG:p.D130Tfs*27,SIRPB1:NM_001330639:exon2:c.385delG:p.D129Tfs*27,SIRPB1:NM_006065:exon2:c.388delG:p.D130Tfs*28",NA,NA,NA,NA,NA,NA
chrX,15332590,15332590,C,-,P277337_F,ASB11,Frame_Shift_Del,NM_001012428,exon1,c.19delG,p.E7Kfs*57,SNP,SNVindel,exonic,ASB11,NA,frameshift deletion,ASB11:NM_001012428:exon1:c.19delG:p.E7Kfs*57,NA,NA,NA,NA,NA,NA
chrX,76855014,76855017,CTAT,-,P277337_F,ATRX,Frame_Shift_Del,NM_138270,exon24,c.5705_5708del,p.D1902Vfs*14,DEL,SNVindel,exonic,ATRX,NA,frameshift deletion,"ATRX:NM_138270:exon24:c.5705_5708del:p.D1902Vfs*14,ATRX:NM_000489:exon25:c.5819_5822del:p.D1940Vfs*14",NA,NA,NA,NA,NA,NA
chr1,94544963,94544963,A,-,P277337_S,ABCA4,Frame_Shift_Del,NM_000350,exon9,c.1154delT,p.I385Tfs*10,SNP,SNVindel,exonic,ABCA4,NA,frameshift deletion,ABCA4:NM_000350:exon9:c.1154delT:p.I385Tfs*10,NA,NA,NA,NA,NA,NA
chr1,226034840,226034842,CTG,-,P277337_S,TMEM63A,In_Frame_Del,NM_014698,exon24,c.2323_2325del,p.Q775del,DEL,SNVindel,exonic,TMEM63A,NA,nonframeshift deletion,TMEM63A:NM_014698:exon24:c.2323_2325del:p.Q775del,NA,NA,NA,NA,NA,NA
chr6,70942386,70942386,G,-,P277337_S,COL9A1,Frame_Shift_Del,NM_078485,exon30,c.1674delC,p.G559Afs*29,SNP,SNVindel,exonic,COL9A1,NA,frameshift deletion,"COL9A1:NM_078485:exon30:c.1674delC:p.G559Afs*29,COL9A1:NM_001851:exon36:c.2403delC:p.G802Afs*29",NA,NA,NA,NA,NA,NA
chr7,97736519,97736521,GCT,-,P277337_S,LMTK2,In_Frame_Del,NM_014916,exon1,c.30_32del,p.L16del,DEL,SNVindel,exonic,LMTK2,NA,nonframeshift deletion,LMTK2:NM_014916:exon1:c.30_32del:p.L16del,NA,NA,NA,NA,NA,NA
chr8,11162509,11162509,A,-,P277337_S,MTMR9,Frame_Shift_Del,NM_015458,exon4,c.577delA,p.N195Mfs*4,SNP,SNVindel,exonic,MTMR9,NA,frameshift deletion,MTMR9:NM_015458:exon4:c.577delA:p.N195Mfs*4,NA,NA,NA,NA,NA,NA
chr9,79635239,79635241,GGC,-,P277337_S,FOXB2,In_Frame_Del,NM_001013735,exon1,c.669_671del,p.A234del,DEL,SNVindel,exonic,FOXB2,NA,nonframeshift deletion,FOXB2:NM_001013735:exon1:c.669_671del:p.A234del,NA,NA,NA,NA,NA,NA
chr9,139749474,139749474,C,-,P277337_S,MAMDC4,Frame_Shift_Del,NM_206920,exon10,c.1109delC,p.V372Sfs*171,SNP,SNVindel,exonic,MAMDC4,NA,frameshift deletion,MAMDC4:NM_206920:exon10:c.1109delC:p.V372Sfs*171,NA,NA,NA,NA,NA,NA
chr10,21940688,21940692,TACAG,-,P277337_S,MLLT10,Frame_Shift_Del,NM_001195626,exon9,c.786_790del,p.T263Kfs*7,DEL,SNVindel,exonic,MLLT10,NA,frameshift deletion,"MLLT10:NM_001195626:exon9:c.786_790del:p.T263Kfs*7,MLLT10:NM_004641:exon9:c.786_790del:p.T263Kfs*7",NA,NA,NA,NA,NA,NA
chr12,93171433,93171443,AAGACATCTGG,-,P277337_S,EEA1,Frame_Shift_Del,NM_003566,exon27,c.3894_3900del,p.C1299Kfs*6,DEL,SNVindel,exonic,EEA1,NA,frameshift deletion,EEA1:NM_003566:exon27:c.3894_3900del:p.C1299Kfs*6,NA,NA,NA,NA,NA,NA
chr12,133182784,133182786,CAG,-,P277337_S,LRCOL1,In_Frame_Del,NM_001195520,exon2,c.52_54del,p.L18del,DEL,SNVindel,exonic,LRCOL1,NA,nonframeshift deletion,LRCOL1:NM_001195520:exon2:c.52_54del:p.L18del,NA,NA,NA,NA,NA,NA
chr14,79746672,79746675,GCCG,-,P277337_S,NRXN3,Frame_Shift_Del,NM_001105250,exon1,c.38_41del,p.A16Gfs*23,DEL,SNVindel,exonic,NRXN3,NA,frameshift deletion,"NRXN3:NM_001105250:exon1:c.38_41del:p.A16Gfs*23,NRXN3:NM_001272020:exon1:c.38_41del:p.A16Gfs*23,NRXN3:NM_138970:exon1:c.38_41del:p.A16Gfs*23",NA,NA,NA,NA,NA,NA
chr15,41029893,41029893,-,T,P277337_S,RMDN3,Frame_Shift_Ins,NM_001304802,exon10,c.1156dupA,p.T386Nfs*7,SNP,SNVindel,exonic,RMDN3,NA,frameshift insertion,"RMDN3:NM_001304802:exon10:c.1156dupA:p.T386Nfs*7,RMDN3:NM_001323894:exon10:c.1156dupA:p.T386Nfs*7,RMDN3:NM_001323895:exon10:c.769dupA:p.T257Nfs*7,RMDN3:NM_001323896:exon10:c.1234dupA:p.T412Nfs*7,RMDN3:NM_001323897:exon10:c.1234dupA:p.T412Nfs*7,RMDN3:NM_018145:exon10:c.1156dupA:p.T386Nfs*7",NA,NA,NA,NA,NA,NA
chr15,85163978,85163978,C,-,P277337_S,ZSCAN2,Frame_Shift_Del,NM_181877,exon3,c.552delC,p.Q185Rfs*26,SNP,SNVindel,exonic,ZSCAN2,NA,frameshift deletion,ZSCAN2:NM_181877:exon3:c.552delC:p.Q185Rfs*26,NA,NA,NA,NA,NA,NA
chr15,89424859,89424864,GTAGCG,-,P277337_S,HAPLN3,In_Frame_Del,NM_178232,exon3,c.217_222del,p.R73_Y74del,DEL,SNVindel,exonic,HAPLN3,NA,nonframeshift deletion,"HAPLN3:NM_178232:exon3:c.217_222del:p.R73_Y74del,HAPLN3:NM_001307952:exon4:c.403_408del:p.R135_Y136del",NA,NA,NA,NA,NA,NA
chr16,30709506,30709508,GTG,-,P277337_S,LOC730183,In_Frame_Del,NM_001256932,exon1,c.122_124del,p.P41del,DEL,SNVindel,exonic,LOC730183,NA,nonframeshift deletion,LOC730183:NM_001256932:exon1:c.122_124del:p.P41del,NA,NA,NA,NA,NA,NA
chr16,67763279,67763281,GAG,-,P277337_S,RANBP10,In_Frame_Del,NM_001320238,exon9,c.903_905del,p.S305del,DEL,SNVindel,exonic,RANBP10,NA,nonframeshift deletion,"RANBP10:NM_001320238:exon9:c.903_905del:p.S305del,RANBP10:NM_001320239:exon9:c.1086_1088del:p.S366del,RANBP10:NM_020850:exon10:c.1254_1256del:p.S422del,RANBP10:NM_001320240:exon13:c.567_569del:p.S193del",NA,NA,NA,NA,NA,NA
chr19,18896845,18896847,GTC,-,P277337_S,COMP,In_Frame_Del,NM_000095,exon13,c.1417_1419del,p.D473del,DEL,SNVindel,exonic,COMP,NA,nonframeshift deletion,COMP:NM_000095:exon13:c.1417_1419del:p.D473del,NA,NA,NA,NA,NA,NA
chr19,39019604,39019606,AGG,-,P277337_S,RYR1,In_Frame_Del,NM_001042723,exon75,c.11033_11035del,p.E3684del,DEL,SNVindel,exonic,RYR1,NA,nonframeshift deletion,"RYR1:NM_001042723:exon75:c.11033_11035del:p.E3684del,RYR1:NM_000540:exon76:c.11048_11050del:p.E3689del",NA,NA,NA,NA,NA,NA
chr1,109235299,109235301,GCG,-,P286189_F,PRPF38B,In_Frame_Del,NM_018061,exon1,c.86_88del,p.G33del,DEL,SNVindel,exonic,PRPF38B,NA,nonframeshift deletion,PRPF38B:NM_018061:exon1:c.86_88del:p.G33del,NA,NA,NA,NA,NA,NA
chr1,145209324,145209332,GGCGGCGGC,-,P286189_F,NOTCH2NLC,In_Frame_Del,NM_001364013,exon2,c.16_24del,p.G13_G15del,DEL,SNVindel,exonic,NOTCH2NLC,NA,nonframeshift deletion,NOTCH2NLC:NM_001364013:exon2:c.16_24del:p.G13_G15del,NA,NA,NA,NA,NA,NA
chr2,220494110,220494110,-,C,P286189_F,SLC4A3,Frame_Shift_Ins,NM_001326559,exon4,c.463dupC,p.H157Pfs*15,SNP,SNVindel,exonic,SLC4A3,NA,frameshift insertion,"SLC4A3:NM_001326559:exon4:c.463dupC:p.H157Pfs*15,SLC4A3:NM_005070:exon4:c.463dupC:p.H157Pfs*15,SLC4A3:NM_201574:exon4:c.463dupC:p.H157Pfs*15",NA,NA,NA,NA,NA,NA
chr3,134079072,134079072,-,CGCATCCATGGCAAACTGCCT,P286189_F,AMOTL2,In_Frame_Ins,NM_001278683,exon7,c.1932_1933insAGGCAGTTTGCCATGGATGCG,p.A644_A645insRQFAMDA,INS,SNVindel,exonic,AMOTL2,NA,nonframeshift insertion,"AMOTL2:NM_001278683:exon7:c.1932_1933insAGGCAGTTTGCCATGGATGCG:p.A644_A645insRQFAMDA,AMOTL2:NM_001278685:exon7:c.1752_1753insAGGCAGTTTGCCATGGATGCG:p.A584_A585insRQFAMDA,AMOTL2:NM_001363943:exon7:c.1758_1759insAGGCAGTTTGCCATGGATGCG:p.A586_A587insRQFAMDA,AMOTL2:NM_016201:exon7:c.1758_1759insAGGCAGTTTGCCATGGATGCG:p.A586_A587insRQFAMDA",NA,NA,NA,NA,NA,NA
chr3,195254670,195254670,-,T,P286189_F,PPP1R2,Frame_Shift_Ins,NM_001316325,exon3,c.58dupA,p.R20Kfs*43,SNP,SNVindel,exonic,PPP1R2,NA,frameshift insertion,PPP1R2:NM_001316325:exon3:c.58dupA:p.R20Kfs*43,NA,NA,NA,NA,NA,NA
chr5,32444350,32444352,GCC,-,P286189_F,ZFR,In_Frame_Del,NM_016107,exon2,c.120_122del,p.A43del,DEL,SNVindel,exonic,ZFR,NA,nonframeshift deletion,ZFR:NM_016107:exon2:c.120_122del:p.A43del,NA,NA,NA,NA,NA,NA
chr6,87969483,87969483,-,A,P286189_F,ZNF292,Frame_Shift_Ins,NM_015021,exon8,c.6137dupA,p.S2049Kfs*3,SNP,SNVindel,exonic,ZNF292,NA,frameshift insertion,"ZNF292:NM_015021:exon8:c.6137dupA:p.S2049Kfs*3,ZNF292:NM_001351444:exon9:c.5717dupA:p.S1909Kfs*3",NA,NA,NA,NA,NA,NA
chr6,100061624,100061624,-,CCG,P286189_F,PRDM13,In_Frame_Ins,NM_021620,exon4,c.1113_1114insCCG,p.P378_G379insP,INS,SNVindel,exonic,PRDM13,NA,nonframeshift insertion,PRDM13:NM_021620:exon4:c.1113_1114insCCG:p.P378_G379insP,NA,NA,NA,NA,NA,NA
chr10,26462760,26462760,A,-,P286189_F,MYO3A,Nonsense_Mutation,NM_017433,exon30,c.3567delA,p.M1192*,SNP,SNVindel,exonic,MYO3A,NA,stopgain,MYO3A:NM_017433:exon30:c.3567delA:p.M1192*,NA,NA,NA,NA,NA,NA
chr11,129752495,129752495,-,T,P286189_F,NFRKB,Frame_Shift_Ins,NM_006165,exon8,c.1007dupA,p.V337Gfs*2,SNP,SNVindel,exonic,NFRKB,NA,frameshift insertion,"NFRKB:NM_006165:exon8:c.1007dupA:p.V337Gfs*2,NFRKB:NM_001143835:exon10:c.932dupA:p.V312Gfs*2",NA,NA,NA,NA,NA,NA
chr12,111311658,111311658,-,A,P286189_F,CCDC63,Frame_Shift_Ins,NM_001286244,exon3,c.146dupA,p.I52Nfs*16,SNP,SNVindel,exonic,CCDC63,NA,frameshift insertion,"CCDC63:NM_001286244:exon3:c.146dupA:p.I52Nfs*16,CCDC63:NM_001286243:exon4:c.263dupA:p.I91Nfs*16,CCDC63:NM_152591:exon5:c.383dupA:p.I131Nfs*16",NA,NA,NA,NA,NA,NA
chr14,71275774,71275776,CCT,-,P286189_F,MAP3K9,In_Frame_Del,NM_001284230,exon1,c.113_115del,p.E38del,DEL,SNVindel,exonic,MAP3K9,NA,nonframeshift deletion,"MAP3K9:NM_001284230:exon1:c.113_115del:p.E38del,MAP3K9:NM_033141:exon1:c.113_115del:p.E38del",NA,NA,NA,NA,NA,NA
chr15,23685826,23685828,TCT,-,P286189_F,GOLGA6L2,In_Frame_Del,NM_001304388,exon8,c.1794_1796del,p.E598del,DEL,SNVindel,exonic,GOLGA6L2,NA,nonframeshift deletion,GOLGA6L2:NM_001304388:exon8:c.1794_1796del:p.E598del,NA,NA,NA,NA,NA,NA
chr15,60745782,60745782,A,-,P286189_F,ICE2,Frame_Shift_Del,NM_001276385,exon9,c.1145delT,p.F382Sfs*14,SNP,SNVindel,exonic,ICE2,NA,frameshift deletion,ICE2:NM_001276385:exon9:c.1145delT:p.F382Sfs*14,NA,NA,NA,NA,NA,NA
chr15,62244049,62244049,-,T,P286189_F,VPS13C,Frame_Shift_Ins,NM_017684,exon37,c.4300dupA,p.I1434Nfs*2,SNP,SNVindel,exonic,VPS13C,NA,frameshift insertion,"VPS13C:NM_017684:exon37:c.4300dupA:p.I1434Nfs*2,VPS13C:NM_018080:exon37:c.4300dupA:p.I1434Nfs*2,VPS13C:NM_001018088:exon39:c.4429dupA:p.I1477Nfs*2,VPS13C:NM_020821:exon39:c.4429dupA:p.I1477Nfs*2",NA,NA,NA,NA,NA,NA
chr15,90294296,90294296,-,CGGGGCTCGGCA,P286189_F,MESP1,In_Frame_Ins,NM_018670,exon1,c.166_167insTGCCGAGCCCCG,p.P55_A56insVPSP,INS,SNVindel,exonic,MESP1,NA,nonframeshift insertion,MESP1:NM_018670:exon1:c.166_167insTGCCGAGCCCCG:p.P55_A56insVPSP,NA,NA,NA,NA,NA,NA
chr3,185637260,185637262,TCC,-,P286189_S,TRA2B,In_Frame_Del,NM_001243879,exon6,c.445_447del,p.G149del,DEL,SNVindel,exonic,TRA2B,NA,nonframeshift deletion,"TRA2B:NM_001243879:exon6:c.445_447del:p.G149del,TRA2B:NM_004593:exon7:c.745_747del:p.G249del",NA,NA,NA,NA,NA,NA
chr4,15689831,15689831,-,A,P286189_S,FAM200B,Frame_Shift_Ins,NM_001145191,exon2,c.1232dupA,p.S414Ifs*8,SNP,SNVindel,exonic,FAM200B,NA,frameshift insertion,FAM200B:NM_001145191:exon2:c.1232dupA:p.S414Ifs*8,NA,NA,NA,NA,NA,NA
chr6,100061624,100061624,-,CCG,P286189_S,PRDM13,In_Frame_Ins,NM_021620,exon4,c.1113_1114insCCG,p.P378_G379insP,INS,SNVindel,exonic,PRDM13,NA,nonframeshift insertion,PRDM13:NM_021620:exon4:c.1113_1114insCCG:p.P378_G379insP,NA,NA,NA,NA,NA,NA
chr15,23685826,23685828,TCT,-,P286189_S,GOLGA6L2,In_Frame_Del,NM_001304388,exon8,c.1794_1796del,p.E598del,DEL,SNVindel,exonic,GOLGA6L2,NA,nonframeshift deletion,GOLGA6L2:NM_001304388:exon8:c.1794_1796del:p.E598del,NA,NA,NA,NA,NA,NA
chr15,90294296,90294296,-,CGGGGCTCGGCA,P286189_S,MESP1,In_Frame_Ins,NM_018670,exon1,c.166_167insTGCCGAGCCCCG,p.P55_A56insVPSP,INS,SNVindel,exonic,MESP1,NA,nonframeshift insertion,MESP1:NM_018670:exon1:c.166_167insTGCCGAGCCCCG:p.P55_A56insVPSP,NA,NA,NA,NA,NA,NA
chr16,67876824,67876826,CAG,-,P286189_S,THAP11,In_Frame_Del,NM_020457,exon1,c.367_369del,p.Q132del,DEL,SNVindel,exonic,THAP11,NA,nonframeshift deletion,THAP11:NM_020457:exon1:c.367_369del:p.Q132del,NA,NA,NA,NA,NA,NA
chr22,18314825,18314827,CTC,-,P286189_S,MICAL3,In_Frame_Del,NM_015241,exon21,c.2848_2850del,p.E950del,DEL,SNVindel,exonic,MICAL3,NA,nonframeshift deletion,MICAL3:NM_015241:exon21:c.2848_2850del:p.E950del,NA,NA,NA,NA,NA,NA
chr22,22221709,22221711,CCG,-,P286189_S,MAPK1,In_Frame_Del,NM_002745,exon1,c.20_22del,p.A7del,DEL,SNVindel,exonic,MAPK1,NA,nonframeshift deletion,"MAPK1:NM_002745:exon1:c.20_22del:p.A7del,MAPK1:NM_138957:exon1:c.20_22del:p.A7del",NA,NA,NA,NA,NA,NA
chr1,145209324,145209332,GGCGGCGGC,-,P286189_T,NOTCH2NLC,In_Frame_Del,NM_001364013,exon2,c.16_24del,p.G13_G15del,DEL,SNVindel,exonic,NOTCH2NLC,NA,nonframeshift deletion,NOTCH2NLC:NM_001364013:exon2:c.16_24del:p.G13_G15del,NA,NA,NA,NA,NA,NA
chr3,65372850,65372851,TC,-,P286189_T,MAGI1,Frame_Shift_Del,NM_001365903,exon15,c.2470_2471del,p.E824Nfs*31,DEL,SNVindel,exonic,MAGI1,NA,frameshift deletion,"MAGI1:NM_001365903:exon15:c.2470_2471del:p.E824Nfs*31,MAGI1:NM_001365904:exon15:c.2470_2471del:p.E824Nfs*31,MAGI1:NM_001365905:exon15:c.2470_2471del:p.E824Nfs*31,MAGI1:NM_004742:exon15:c.2467_2468del:p.E823Nfs*31,MAGI1:NM_015520:exon15:c.2467_2468del:p.E823Nfs*31",NA,NA,NA,NA,NA,NA
chr4,65180446,65180451,TATTAG,-,P286189_T,TECRL,In_Frame_Del,NM_001010874,exon5,c.466_471del,p.L156_I157del,DEL,SNVindel,exonic,TECRL,NA,nonframeshift deletion,"TECRL:NM_001010874:exon5:c.466_471del:p.L156_I157del,TECRL:NM_001363796:exon5:c.466_471del:p.L156_I157del",NA,NA,NA,NA,NA,NA
chr4,114120243,114120243,C,-,P286189_T,ANK2,Frame_Shift_Del,NM_001148,exon4,c.362delC,p.N122Ifs*25,SNP,SNVindel,exonic,ANK2,NA,frameshift deletion,"ANK2:NM_001148:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354225:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354228:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354230:exon4:c.407delC:p.N137Ifs*25,ANK2:NM_001354231:exon4:c.407delC:p.N137Ifs*25,ANK2:NM_001354232:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354235:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354236:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354237:exon4:c.407delC:p.N137Ifs*25,ANK2:NM_001354240:exon4:c.407delC:p.N137Ifs*25,ANK2:NM_001354242:exon4:c.407delC:p.N137Ifs*25,ANK2:NM_001354245:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354246:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354258:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354265:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354268:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001354269:exon4:c.350delC:p.N118Ifs*25,ANK2:NM_001354273:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_020977:exon4:c.362delC:p.N122Ifs*25,ANK2:NM_001127493:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354239:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354241:exon5:c.407delC:p.N137Ifs*25,ANK2:NM_001354243:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354244:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354249:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354252:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354253:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354254:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354255:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354256:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354257:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354260:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354262:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354264:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354266:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354267:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354270:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354271:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354272:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354274:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354275:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354276:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354277:exon5:c.299delC:p.N101Ifs*25,ANK2:NM_001354261:exon6:c.344delC:p.N116Ifs*25",NA,NA,NA,NA,NA,NA
chr8,19677099,19677100,AG,-,P286189_T,INTS10,Frame_Shift_Del,NM_001353505,exon3,c.213_214del,p.D72Pfs*32,DEL,SNVindel,exonic,INTS10,NA,frameshift deletion,"INTS10:NM_001353505:exon3:c.213_214del:p.D72Pfs*32,INTS10:NM_001353506:exon3:c.213_214del:p.D72Pfs*32,INTS10:NM_001353507:exon3:c.213_214del:p.D72Pfs*32,INTS10:NM_001353508:exon3:c.213_214del:p.D72Pfs*32,INTS10:NM_001353509:exon3:c.213_214del:p.D72Pfs*32,INTS10:NM_001353510:exon3:c.213_214del:p.D72Pfs*32,INTS10:NM_001353511:exon3:c.78_79del:p.D27Pfs*32,INTS10:NM_001353512:exon3:c.78_79del:p.D27Pfs*32,INTS10:NM_018142:exon3:c.213_214del:p.D72Pfs*32",NA,NA,NA,NA,NA,NA
chr12,10658652,10658658,GCTCATG,-,P286189_T,EIF2S3B,Frame_Shift_Del,NM_001357731,exon1,c.151_157del,p.A51Gfs*21,DEL,SNVindel,exonic,EIF2S3B,NA,frameshift deletion,"EIF2S3B:NM_001357731:exon1:c.151_157del:p.A51Gfs*21,EIF2S3B:NM_001357734:exon1:c.151_157del:p.A51Gfs*21",NA,NA,NA,NA,NA,NA
chr12,57864953,57864953,-,C,P286189_T,GLI1,Frame_Shift_Ins,NM_001160045,exon10,c.2047dupC,p.Q683Pfs*15,SNP,SNVindel,exonic,GLI1,NA,frameshift insertion,"GLI1:NM_001160045:exon10:c.2047dupC:p.Q683Pfs*15,GLI1:NM_001167609:exon11:c.2308dupC:p.Q770Pfs*15,GLI1:NM_005269:exon12:c.2431dupC:p.Q811Pfs*15",NA,NA,NA,NA,NA,NA
chr15,23685826,23685828,TCT,-,P286189_T,GOLGA6L2,In_Frame_Del,NM_001304388,exon8,c.1794_1796del,p.E598del,DEL,SNVindel,exonic,GOLGA6L2,NA,nonframeshift deletion,GOLGA6L2:NM_001304388:exon8:c.1794_1796del:p.E598del,NA,NA,NA,NA,NA,NA
chr15,90294296,90294296,-,CGGGGCTCGGCA,P286189_T,MESP1,In_Frame_Ins,NM_018670,exon1,c.166_167insTGCCGAGCCCCG,p.P55_A56insVPSP,INS,SNVindel,exonic,MESP1,NA,nonframeshift insertion,MESP1:NM_018670:exon1:c.166_167insTGCCGAGCCCCG:p.P55_A56insVPSP,NA,NA,NA,NA,NA,NA
chr1,6214828,6214830,CCG,-,P293977_F,CHD5,In_Frame_Del,NM_015557,exon5,c.635_637del,p.A212del,DEL,SNVindel,exonic,CHD5,NA,nonframeshift deletion,CHD5:NM_015557:exon5:c.635_637del:p.A212del,NA,NA,NA,NA,NA,NA
chr1,153907279,153907290,CTGCTGCTGCTG,-,P293977_F,DENND4B,In_Frame_Del,NM_001367466,exon18,c.2752_2763del,p.Q918_Q921del,DEL,SNVindel,exonic,DENND4B,NA,nonframeshift deletion,"DENND4B:NM_001367466:exon18:c.2752_2763del:p.Q918_Q921del,DENND4B:NM_014856:exon18:c.2719_2730del:p.Q907_Q910del",NA,NA,NA,NA,NA,NA
chr1,204085764,204085766,AGC,-,P293977_F,SOX13,In_Frame_Del,NM_005686,exon5,c.548_550del,p.Q187del,DEL,SNVindel,exonic,SOX13,NA,nonframeshift deletion,SOX13:NM_005686:exon5:c.548_550del:p.Q187del,NA,NA,NA,NA,NA,NA
chr2,233697764,233697766,GCA,-,P293977_F,GIGYF2,In_Frame_Del,NM_001103148,exon21,c.2709_2711del,p.Q911del,DEL,SNVindel,exonic,GIGYF2,NA,nonframeshift deletion,"GIGYF2:NM_001103148:exon21:c.2709_2711del:p.Q911del,GIGYF2:NM_001103146:exon22:c.2727_2729del:p.Q917del,GIGYF2:NM_001103147:exon24:c.2790_2792del:p.Q938del,GIGYF2:NM_015575:exon24:c.2727_2729del:p.Q917del",NA,NA,NA,NA,NA,NA
chr4,71554691,71554693,GGA,-,P293977_F,UTP3,In_Frame_Del,NM_020368,exon1,c.297_299del,p.E105del,DEL,SNVindel,exonic,UTP3,NA,nonframeshift deletion,UTP3:NM_020368:exon1:c.297_299del:p.E105del,NA,NA,NA,NA,NA,NA
chr4,76862043,76862045,CAG,-,P293977_F,NAAA,In_Frame_Del,NM_001042402,exon1,c.58_60del,p.L20del,DEL,SNVindel,exonic,NAAA,NA,nonframeshift deletion,"NAAA:NM_001042402:exon1:c.58_60del:p.L20del,NAAA:NM_001363719:exon1:c.58_60del:p.L20del,NAAA:NM_014435:exon1:c.58_60del:p.L20del",NA,NA,NA,NA,NA,NA
chr7,154760670,154760672,TGC,-,P293977_F,PAXIP1,In_Frame_Del,NM_007349,exon7,c.1239_1241del,p.Q413del,DEL,SNVindel,exonic,PAXIP1,NA,nonframeshift deletion,PAXIP1:NM_007349:exon7:c.1239_1241del:p.Q413del,NA,NA,NA,NA,NA,NA
chr8,94772148,94772148,-,T,P293977_F,TMEM67,Frame_Shift_Ins,NM_001142301,exon4,c.91dupT,p.Y31Lfs*4,SNP,SNVindel,exonic,TMEM67,NA,frameshift insertion,TMEM67:NM_001142301:exon4:c.91dupT:p.Y31Lfs*4,NA,NA,NA,NA,NA,NA
chr10,89717715,89717715,-,A,P293977_F,PTEN,Frame_Shift_Ins,NM_000314,exon7,c.741dupA,p.P248Tfs*5,SNP,SNVindel,exonic,PTEN,NA,frameshift insertion,"PTEN:NM_000314:exon7:c.741dupA:p.P248Tfs*5,PTEN:NM_001304718:exon7:c.150dupA:p.P51Tfs*5,PTEN:NM_001304717:exon8:c.1260dupA:p.P421Tfs*5",NA,NA,NA,NA,NA,NA
chr12,32996150,32996150,-,AG,P293977_F,PKP2,Nonsense_Mutation,NM_004572,exon6,c.1475_1476insCT,p.R493*,INS,SNVindel,exonic,PKP2,NA,stopgain,PKP2:NM_004572:exon6:c.1475_1476insCT:p.R493*,NA,NA,NA,NA,NA,NA
chr12,72148921,72148923,CGG,-,P293977_F,RAB21,In_Frame_Del,NM_014999,exon1,c.12_14del,p.G10del,DEL,SNVindel,exonic,RAB21,NA,nonframeshift deletion,RAB21:NM_014999:exon1:c.12_14del:p.G10del,NA,NA,NA,NA,NA,NA
chr13,79918806,79918806,-,T,P293977_F,RBM26,Frame_Shift_Ins,NM_001286632,exon14,c.2109dupA,p.Q704Tfs*23,SNP,SNVindel,exonic,RBM26,NA,frameshift insertion,"RBM26:NM_001286632:exon14:c.2109dupA:p.Q704Tfs*23,RBM26:NM_022118:exon14:c.2100dupA:p.Q701Tfs*23,RBM26:NM_001286631:exon15:c.2187dupA:p.Q730Tfs*23,RBM26:NM_001366735:exon15:c.2181dupA:p.Q728Tfs*23",NA,NA,NA,NA,NA,NA
chr13,108518687,108518689,CTG,-,P293977_F,FAM155A,In_Frame_Del,NM_001080396,exon1,c.256_258del,p.Q86del,DEL,SNVindel,exonic,FAM155A,NA,nonframeshift deletion,FAM155A:NM_001080396:exon1:c.256_258del:p.Q86del,NA,NA,NA,NA,NA,NA
chr14,23744827,23744829,TCC,-,P293977_F,HOMEZ,In_Frame_Del,NM_020834,exon2,c.1608_1610del,p.E537del,DEL,SNVindel,exonic,HOMEZ,NA,nonframeshift deletion,HOMEZ:NM_020834:exon2:c.1608_1610del:p.E537del,NA,NA,NA,NA,NA,NA
chr19,46305473,46305475,TCC,-,P293977_F,RSPH6A,In_Frame_Del,NM_030785,exon4,c.1701_1703del,p.E567del,DEL,SNVindel,exonic,RSPH6A,NA,nonframeshift deletion,RSPH6A:NM_030785:exon4:c.1701_1703del:p.E567del,NA,NA,NA,NA,NA,NA
chrX,75648348,75648350,CGC,-,P293977_F,MAGEE1,In_Frame_Del,NM_020932,exon1,c.25_27del,p.R14del,DEL,SNVindel,exonic,MAGEE1,NA,nonframeshift deletion,MAGEE1:NM_020932:exon1:c.25_27del:p.R14del,NA,NA,NA,NA,NA,NA
chr1,15736567,15736569,GCG,-,P293977_S,EFHD2,In_Frame_Del,NM_024329,exon1,c.100_102del,p.A38del,DEL,SNVindel,exonic,EFHD2,NA,nonframeshift deletion,EFHD2:NM_024329:exon1:c.100_102del:p.A38del,NA,NA,NA,NA,NA,NA
chr1,62738886,62738888,GGA,-,P293977_S,KANK4,In_Frame_Del,NM_181712,exon3,c.1888_1890del,p.S630del,DEL,SNVindel,exonic,KANK4,NA,nonframeshift deletion,KANK4:NM_181712:exon3:c.1888_1890del:p.S630del,NA,NA,NA,NA,NA,NA
chr1,160920349,160920351,GAT,-,P293977_S,ITLN2,In_Frame_Del,NM_080878,exon5,c.592_594del,p.I198del,DEL,SNVindel,exonic,ITLN2,NA,nonframeshift deletion,ITLN2:NM_080878:exon5:c.592_594del:p.I198del,NA,NA,NA,NA,NA,NA
chr1,209956833,209956833,T,-,P293977_S,C1orf74,Nonsense_Mutation,NM_152485,exon2,c.147delA,p.L50*,SNP,SNVindel,exonic,C1orf74,NA,stopgain,C1orf74:NM_152485:exon2:c.147delA:p.L50*,NA,NA,NA,NA,NA,NA
chr2,1667527,1667543,GCTGGCTCCCTGCAAGG,-,P293977_S,PXDN,In_Frame_Del,NM_012293,exon12,c.1409_1417del,p.G470_L473delinsV,DEL,SNVindel,exonic,PXDN,NA,nonframeshift deletion,PXDN:NM_012293:exon12:c.1409_1417del:p.G470_L473delinsV,NA,NA,NA,NA,NA,NA
chr2,42488301,42488301,-,A,P293977_S,EML4,Frame_Shift_Ins,NM_019063,exon4,c.380dupA,p.E130Rfs*6,SNP,SNVindel,exonic,EML4,NA,frameshift insertion,EML4:NM_019063:exon4:c.380dupA:p.E130Rfs*6,NA,NA,NA,NA,NA,NA
chr3,3887598,3887600,ATG,-,P293977_S,LRRN1,In_Frame_Del,NM_020873,exon2,c.1273_1275del,p.M425del,DEL,SNVindel,exonic,LRRN1,NA,nonframeshift deletion,"LRRN1:NM_020873:exon2:c.1273_1275del:p.M425del,LRRN1:NM_001324188:exon3:c.1273_1275del:p.M425del,LRRN1:NM_001324189:exon3:c.1273_1275del:p.M425del",NA,NA,NA,NA,NA,NA
chr4,17513661,17513663,GCC,-,P293977_S,QDPR,In_Frame_Del,NM_000320,exon1,c.15_17del,p.A7del,DEL,SNVindel,exonic,QDPR,NA,nonframeshift deletion,"QDPR:NM_000320:exon1:c.15_17del:p.A7del,QDPR:NM_001306140:exon1:c.15_17del:p.A7del",NA,NA,NA,NA,NA,NA
chr5,176882362,176882406,GCACCCGCTGCTGCACCACGGGCCCGCGCAGCCGCACGCGCACGC,-,P293977_S,PRR7,In_Frame_Del,NM_001174101,exon2,c.294_338del,p.L101_P115del,DEL,SNVindel,exonic,PRR7,NA,nonframeshift deletion,"PRR7:NM_001174101:exon2:c.294_338del:p.L101_P115del,PRR7:NM_001174102:exon2:c.294_338del:p.L101_P115del,PRR7:NM_030567:exon3:c.294_338del:p.L101_P115del",NA,NA,NA,NA,NA,NA
chr7,100086665,100086665,-,C,P293977_S,NYAP1,Frame_Shift_Ins,NM_173564,exon4,c.1322dupC,p.A444Cfs*122,SNP,SNVindel,exonic,NYAP1,NA,frameshift insertion,NYAP1:NM_173564:exon4:c.1322dupC:p.A444Cfs*122,NA,NA,NA,NA,NA,NA
chr8,144906520,144906522,GCC,-,P293977_S,PUF60,In_Frame_Del,NM_001271096,exon2,c.69_71del,p.A24del,DEL,SNVindel,exonic,PUF60,NA,nonframeshift deletion,"PUF60:NM_001271096:exon2:c.69_71del:p.A24del,PUF60:NM_001271098:exon2:c.69_71del:p.A24del,PUF60:NM_014281:exon2:c.72_74del:p.A25del,PUF60:NM_078480:exon2:c.72_74del:p.A25del,PUF60:NM_001362895:exon3:c.183_185del:p.A62del,PUF60:NM_001362896:exon3:c.183_185del:p.A62del,PUF60:NM_001362897:exon3:c.183_185del:p.A62del",NA,NA,NA,NA,NA,NA
chr9,74817578,74817581,TGGC,-,P293977_S,GDA,Nonsense_Mutation,NM_001242505,exon3,c.304_307del,p.W102*,DEL,SNVindel,exonic,GDA,NA,stopgain,"GDA:NM_001242505:exon3:c.304_307del:p.W102*,GDA:NM_001242507:exon3:c.82_85del:p.W28*,GDA:NM_001351571:exon3:c.178_181del:p.W60*,GDA:NM_001351572:exon3:c.304_307del:p.W102*,GDA:NM_001351573:exon3:c.304_307del:p.W102*,GDA:NM_004293:exon3:c.304_307del:p.W102*,GDA:NM_001242506:exon4:c.82_85del:p.W28*",NA,NA,NA,NA,NA,NA
chr9,101258747,101258755,GAAATCTCA,-,P293977_S,GABBR2,In_Frame_Del,NM_005458,exon4,c.672_680del,p.E225_S227del,DEL,SNVindel,exonic,GABBR2,NA,nonframeshift deletion,GABBR2:NM_005458:exon4:c.672_680del:p.E225_S227del,NA,NA,NA,NA,NA,NA
chr10,89717715,89717715,-,A,P293977_S,PTEN,Frame_Shift_Ins,NM_000314,exon7,c.741dupA,p.P248Tfs*5,SNP,SNVindel,exonic,PTEN,NA,frameshift insertion,"PTEN:NM_000314:exon7:c.741dupA:p.P248Tfs*5,PTEN:NM_001304718:exon7:c.150dupA:p.P51Tfs*5,PTEN:NM_001304717:exon8:c.1260dupA:p.P421Tfs*5",NA,NA,NA,NA,NA,NA
chr10,115804766,115804768,CCG,-,P293977_S,ADRB1,In_Frame_Del,NM_000684,exon1,c.875_877del,p.A297del,DEL,SNVindel,exonic,ADRB1,NA,nonframeshift deletion,ADRB1:NM_000684:exon1:c.875_877del:p.A297del,NA,NA,NA,NA,NA,NA
chr14,24780386,24780386,C,-,P293977_S,LTB4R2,Frame_Shift_Del,NM_001164692,exon2,c.516delC,p.P173Rfs*10,SNP,SNVindel,exonic,LTB4R2,NA,frameshift deletion,"LTB4R2:NM_001164692:exon2:c.516delC:p.P173Rfs*10,LTB4R2:NM_019839:exon2:c.516delC:p.P173Rfs*10",NA,NA,NA,NA,NA,NA
chr15,64454251,64454251,C,-,P293977_S,PPIB,Frame_Shift_Del,NM_000942,exon2,c.238delG,p.A80Lfs*17,SNP,SNVindel,exonic,PPIB,NA,frameshift deletion,PPIB:NM_000942:exon2:c.238delG:p.A80Lfs*17,NA,NA,NA,NA,NA,NA
chr19,1578372,1578374,CTC,-,P293977_S,MBD3,In_Frame_Del,NM_001281453,exon6,c.841_843del,p.E281del,DEL,SNVindel,exonic,MBD3,NA,nonframeshift deletion,"MBD3:NM_001281453:exon6:c.841_843del:p.E281del,MBD3:NM_001281454:exon6:c.745_747del:p.E249del",NA,NA,NA,NA,NA,NA
chr19,5713251,5713253,CAT,-,P293977_S,LONP1,In_Frame_Del,NM_004793,exon3,c.530_532del,p.D177del,DEL,SNVindel,exonic,LONP1,NA,nonframeshift deletion,"LONP1:NM_004793:exon3:c.530_532del:p.D177del,LONP1:NM_001276479:exon4:c.338_340del:p.D113del",NA,NA,NA,NA,NA,NA
chr19,35625552,35625554,CAG,-,P293977_S,LGI4,In_Frame_Del,NM_139284,exon1,c.31_33del,p.L11del,DEL,SNVindel,exonic,LGI4,NA,nonframeshift deletion,LGI4:NM_139284:exon1:c.31_33del:p.L11del,NA,NA,NA,NA,NA,NA
chrX,62570504,62570504,C,-,P293977_S,SPIN4,Frame_Shift_Del,NM_001012968,exon1,c.195delG,p.E65Dfs*5,SNP,SNVindel,exonic,SPIN4,NA,frameshift deletion,SPIN4:NM_001012968:exon1:c.195delG:p.E65Dfs*5,NA,NA,NA,NA,NA,NA
chr1,6638843,6638845,GCT,-,P294163_F,TAS1R1,In_Frame_Del,NM_177540,exon5,c.963_965del,p.L328del,DEL,SNVindel,exonic,TAS1R1,NA,nonframeshift deletion,"TAS1R1:NM_177540:exon5:c.963_965del:p.L328del,TAS1R1:NM_138697:exon6:c.1725_1727del:p.L582del",NA,NA,NA,NA,NA,NA
chr1,8716284,8716285,TC,-,P294163_F,RERE,Frame_Shift_Del,NM_001042681,exon2,c.72_73del,p.D27Qfs*6,DEL,SNVindel,exonic,RERE,NA,frameshift deletion,"RERE:NM_001042681:exon2:c.72_73del:p.D27Qfs*6,RERE:NM_012102:exon3:c.72_73del:p.D27Qfs*6",NA,NA,NA,NA,NA,NA
chr2,172334537,172334537,-,A,P294163_F,DCAF17,Frame_Shift_Ins,NM_001164821,exon10,c.1023dupA,p.S344Kfs*3,SNP,SNVindel,exonic,DCAF17,NA,frameshift insertion,"DCAF17:NM_001164821:exon10:c.1023dupA:p.S344Kfs*3,DCAF17:NM_025000:exon12:c.1224dupA:p.S411Kfs*3",NA,NA,NA,NA,NA,NA
chr3,51624506,51624508,GAG,-,P294163_F,RAD54L2,In_Frame_Del,NM_001322256,exon2,c.70_72del,p.E30del,DEL,SNVindel,exonic,RAD54L2,NA,nonframeshift deletion,"RAD54L2:NM_001322256:exon2:c.70_72del:p.E30del,RAD54L2:NM_015106:exon3:c.70_72del:p.E30del,RAD54L2:NM_001322253:exon4:c.70_72del:p.E30del",NA,NA,NA,NA,NA,NA
chr3,138121035,138121037,AGA,-,P294163_F,MRAS,In_Frame_Del,NM_001252091,exon5,c.323_325del,p.K113del,DEL,SNVindel,exonic,MRAS,NA,nonframeshift deletion,"MRAS:NM_001252091:exon5:c.323_325del:p.K113del,MRAS:NM_001252092:exon5:c.323_325del:p.K113del,MRAS:NM_001252093:exon5:c.323_325del:p.K113del,MRAS:NM_001085049:exon6:c.551_553del:p.K189del,MRAS:NM_001252090:exon6:c.551_553del:p.K189del,MRAS:NM_012219:exon6:c.551_553del:p.K189del",NA,NA,NA,NA,NA,NA
chr5,1879669,1879671,CCT,-,P294163_F,IRX4,In_Frame_Del,NM_016358,exon4,c.683_685del,p.E228del,DEL,SNVindel,exonic,IRX4,NA,nonframeshift deletion,"IRX4:NM_016358:exon4:c.683_685del:p.E228del,IRX4:NM_001278632:exon5:c.683_685del:p.E228del,IRX4:NM_001278634:exon5:c.683_685del:p.E228del,IRX4:NM_001278633:exon6:c.761_763del:p.E254del,IRX4:NM_001278635:exon6:c.761_763del:p.E254del",NA,NA,NA,NA,NA,NA
chr9,139277995,139277997,GCT,-,P294163_F,SNAPC4,In_Frame_Del,NM_003086,exon15,c.1624_1626del,p.S542del,DEL,SNVindel,exonic,SNAPC4,NA,nonframeshift deletion,SNAPC4:NM_003086:exon15:c.1624_1626del:p.S542del,NA,NA,NA,NA,NA,NA
chr10,125528165,125528167,CAG,-,P294163_F,CPXM2,In_Frame_Del,NM_198148,exon9,c.1174_1176del,p.L392del,DEL,SNVindel,exonic,CPXM2,NA,nonframeshift deletion,CPXM2:NM_198148:exon9:c.1174_1176del:p.L392del,NA,NA,NA,NA,NA,NA
chr15,78580688,78580688,G,-,P294163_F,WDR61,Frame_Shift_Del,NM_001303248,exon6,c.320delC,p.P107Rfs*29,SNP,SNVindel,exonic,WDR61,NA,frameshift deletion,"WDR61:NM_001303248:exon6:c.320delC:p.P107Rfs*29,WDR61:NM_001303247:exon8:c.599delC:p.P200Rfs*29,WDR61:NM_025234:exon8:c.599delC:p.P200Rfs*29",NA,NA,NA,NA,NA,NA
chr16,85743879,85743881,GCT,-,P294163_F,C16orf74,In_Frame_Del,NM_206967,exon3,c.61_63del,p.S21del,DEL,SNVindel,exonic,C16orf74,NA,nonframeshift deletion,C16orf74:NM_206967:exon3:c.61_63del:p.S21del,NA,NA,NA,NA,NA,NA
chr19,45912490,45912492,AAG,-,P294163_F,CD3EAP,In_Frame_Del,NM_001297590,exon3,c.1270_1272del,p.K430del,DEL,SNVindel,exonic,CD3EAP,NA,nonframeshift deletion,"CD3EAP:NM_001297590:exon3:c.1270_1272del:p.K430del,CD3EAP:NM_012099:exon3:c.1264_1266del:p.K428del",NA,NA,NA,NA,NA,NA
chr19,50155916,50155918,CCT,-,P294163_F,SCAF1,In_Frame_Del,NM_021228,exon7,c.2270_2272del,p.S763del,DEL,SNVindel,exonic,SCAF1,NA,nonframeshift deletion,SCAF1:NM_021228:exon7:c.2270_2272del:p.S763del,NA,NA,NA,NA,NA,NA
chr11,2181203,2181203,C,-,P294163_S,INS,Frame_Shift_Del,NM_001185098,exon2,c.212delG,p.G71Afs*60,SNP,SNVindel,exonic,INS,NA,frameshift deletion,"INS:NM_001185098:exon2:c.212delG:p.G71Afs*60,INS:NM_000207:exon3:c.212delG:p.G71Afs*60,INS:NM_001185097:exon3:c.212delG:p.G71Afs*60,INS:NM_001291897:exon3:c.212delG:p.G71Afs*60",NA,NA,NA,NA,NA,NA
chr15,28478611,28478628,ACTCTACAAACATCCACC,-,P294163_S,HERC2,In_Frame_Del,NM_004667,exon29,c.4431_4448del,p.D1479_V1484del,DEL,SNVindel,exonic,HERC2,NA,nonframeshift deletion,HERC2:NM_004667:exon29:c.4431_4448del:p.D1479_V1484del,NA,NA,NA,NA,NA,NA
chr15,65943128,65943130,GAG,-,P294163_S,SLC24A1,In_Frame_Del,NM_001254740,exon4,c.622_624del,p.E217del,DEL,SNVindel,exonic,SLC24A1,NA,nonframeshift deletion,"SLC24A1:NM_001254740:exon4:c.622_624del:p.E217del,SLC24A1:NM_001301032:exon5:c.2587_2589del:p.E872del,SLC24A1:NM_001301031:exon6:c.2641_2643del:p.E890del,SLC24A1:NM_004727:exon7:c.2641_2643del:p.E890del,SLC24A1:NM_001301033:exon8:c.2587_2589del:p.E872del",NA,NA,NA,NA,NA,NA
chr19,1578372,1578374,CTC,-,P294163_S,MBD3,In_Frame_Del,NM_001281453,exon6,c.841_843del,p.E281del,DEL,SNVindel,exonic,MBD3,NA,nonframeshift deletion,"MBD3:NM_001281453:exon6:c.841_843del:p.E281del,MBD3:NM_001281454:exon6:c.745_747del:p.E249del",NA,NA,NA,NA,NA,NA
chr19,10407229,10407229,G,-,P294163_S,ICAM5,Frame_Shift_Del,NM_003259,exon11,c.2712delG,p.G906Afs*16,SNP,SNVindel,exonic,ICAM5,NA,frameshift deletion,ICAM5:NM_003259:exon11:c.2712delG:p.G906Afs*16,NA,NA,NA,NA,NA,NA
chr22,28194913,28194915,TGC,-,P294163_S,MN1,In_Frame_Del,NM_002430,exon1,c.1617_1619del,p.Q550del,DEL,SNVindel,exonic,MN1,NA,nonframeshift deletion,MN1:NM_002430:exon1:c.1617_1619del:p.Q550del,NA,NA,NA,NA,NA,NA
chrX,53111759,53111761,CCG,-,P294163_S,TSPYL2,In_Frame_Del,NM_022117,exon1,c.79_81del,p.P33del,DEL,SNVindel,exonic,TSPYL2,NA,nonframeshift deletion,TSPYL2:NM_022117:exon1:c.79_81del:p.P33del,NA,NA,NA,NA,NA,NA
chr1,92447228,92447230,AGC,-,P299664_F,BRDT,In_Frame_Del,NM_001242807,exon11,c.1780_1782del,p.S602del,DEL,SNVindel,exonic,BRDT,NA,nonframeshift deletion,"BRDT:NM_001242807:exon11:c.1780_1782del:p.S602del,BRDT:NM_001242808:exon11:c.1780_1782del:p.S602del,BRDT:NM_001242806:exon12:c.1930_1932del:p.S652del,BRDT:NM_001242810:exon12:c.1699_1701del:p.S575del,BRDT:NM_001726:exon12:c.1918_1920del:p.S648del,BRDT:NM_207189:exon12:c.1918_1920del:p.S648del,BRDT:NM_001242805:exon13:c.1918_1920del:p.S648del",NA,NA,NA,NA,NA,NA
chr6,168377213,168377213,-,GTGT,P299664_F,HGC6.3,Frame_Shift_Ins,NM_001129895,exon1,c.119_120insACAC,p.A41Hfs*104,INS,SNVindel,exonic,HGC6.3,NA,frameshift insertion,HGC6.3:NM_001129895:exon1:c.119_120insACAC:p.A41Hfs*104,NA,NA,NA,NA,NA,NA
chr7,92146721,92146721,T,-,P299664_F,PEX1,Frame_Shift_Del,NM_000466,exon5,c.1108delA,p.I370Lfs*17,SNP,SNVindel,exonic,PEX1,NA,frameshift deletion,"PEX1:NM_000466:exon5:c.1108delA:p.I370Lfs*17,PEX1:NM_001282677:exon5:c.1108delA:p.I370Lfs*17,PEX1:NM_001282678:exon5:c.484delA:p.I162Lfs*17",NA,NA,NA,NA,NA,NA
chr16,72822034,72822036,GCT,-,P299664_F,ZFHX3,In_Frame_Del,NM_001164766,exon9,c.7397_7399del,p.Q2466del,DEL,SNVindel,exonic,ZFHX3,NA,nonframeshift deletion,"ZFHX3:NM_001164766:exon9:c.7397_7399del:p.Q2466del,ZFHX3:NM_006885:exon10:c.10139_10141del:p.Q3380del",NA,NA,NA,NA,NA,NA
chr17,7646596,7646596,-,T,P299664_F,DNAH2,Frame_Shift_Ins,NM_001303270,exon14,c.2287dupT,p.S766Ffs*18,SNP,SNVindel,exonic,DNAH2,NA,frameshift insertion,DNAH2:NM_001303270:exon14:c.2287dupT:p.S766Ffs*18,NA,NA,NA,NA,NA,NA
chr21,10942925,10942927,CTT,-,P299664_F,TPTE,In_Frame_Del,NM_001290224,exon7,c.246_248del,p.R84del,DEL,SNVindel,exonic,TPTE,NA,nonframeshift deletion,"TPTE:NM_001290224:exon7:c.246_248del:p.R84del,TPTE:NM_199260:exon10:c.546_548del:p.R184del,TPTE:NM_199259:exon11:c.606_608del:p.R204del,TPTE:NM_199261:exon12:c.660_662del:p.R222del",NA,NA,NA,NA,NA,NA
chr2,45169430,45169432,GGC,-,P299664_S,SIX3,In_Frame_Del,NM_005413,exon1,c.187_189del,p.G69del,DEL,SNVindel,exonic,SIX3,NA,nonframeshift deletion,SIX3:NM_005413:exon1:c.187_189del:p.G69del,NA,NA,NA,NA,NA,NA
chr2,105472776,105472778,CAC,-,P299664_S,POU3F3,In_Frame_Del,NM_006236,exon1,c.808_810del,p.H277del,DEL,SNVindel,exonic,POU3F3,NA,nonframeshift deletion,POU3F3:NM_006236:exon1:c.808_810del:p.H277del,NA,NA,NA,NA,NA,NA
chr7,139094365,139094366,AG,-,P299664_S,FMC1-LUC7L2,Frame_Shift_Del,NM_016019,exon7,c.744_745del,p.E253Rfs*34,DEL,SNVindel,exonic,FMC1-LUC7L2;LUC7L2,NA,frameshift deletion,"LUC7L2:NM_016019:exon7:c.744_745del:p.E253Rfs*34,FMC1-LUC7L2:NM_001244584:exon8:c.942_943del:p.E319Rfs*34,LUC7L2:NM_001244585:exon8:c.735_736del:p.E250Rfs*34,LUC7L2:NM_001270643:exon8:c.741_742del:p.E252Rfs*34",NA,NA,NA,NA,NA,NA
chr9,25678178,25678180,CGC,-,P299664_S,TUSC1,In_Frame_Del,NM_001004125,exon1,c.140_142del,p.G47del,DEL,SNVindel,exonic,TUSC1,NA,nonframeshift deletion,TUSC1:NM_001004125:exon1:c.140_142del:p.G47del,NA,NA,NA,NA,NA,NA
chr10,101295275,101295277,GGC,-,P299664_S,NKX2-3,In_Frame_Del,NM_145285,exon2,c.892_894del,p.G305del,DEL,SNVindel,exonic,NKX2-3,NA,nonframeshift deletion,NKX2-3:NM_145285:exon2:c.892_894del:p.G305del,NA,NA,NA,NA,NA,NA
chr11,89444610,89444610,-,A,P299664_S,TRIM77,Frame_Shift_Ins,NM_001146162,exon2,c.445dupA,p.Q152Tfs*31,SNP,SNVindel,exonic,TRIM77,NA,frameshift insertion,"TRIM77:NM_001146162:exon2:c.445dupA:p.Q152Tfs*31,TRIM77:NM_001271942:exon2:c.445dupA:p.Q152Tfs*28",NA,NA,NA,NA,NA,NA
chr12,88512304,88512304,-,T,P299664_S,CEP290,Frame_Shift_Ins,NM_025114,exon17,c.1666dupA,p.I556Nfs*20,SNP,SNVindel,exonic,CEP290,NA,frameshift insertion,CEP290:NM_025114:exon17:c.1666dupA:p.I556Nfs*20,NA,NA,NA,NA,NA,NA
chr13,79176484,79176486,TGG,-,P299664_S,POU4F1,In_Frame_Del,NM_006237,exon2,c.324_326del,p.H108del,DEL,SNVindel,exonic,POU4F1,NA,nonframeshift deletion,POU4F1:NM_006237:exon2:c.324_326del:p.H108del,NA,NA,NA,NA,NA,NA
chr14,73572607,73572608,AG,-,P299664_S,RBM25,Frame_Shift_Del,NM_021239,exon11,c.1195_1196del,p.E404Tfs*33,DEL,SNVindel,exonic,RBM25,NA,frameshift deletion,RBM25:NM_021239:exon11:c.1195_1196del:p.E404Tfs*33,NA,NA,NA,NA,NA,NA
chr16,86544211,86544213,CGG,-,P299664_S,FOXF1,In_Frame_Del,NM_001451,exon1,c.36_38del,p.G23del,DEL,SNVindel,exonic,FOXF1,NA,nonframeshift deletion,FOXF1:NM_001451:exon1:c.36_38del:p.G23del,NA,NA,NA,NA,NA,NA
chr16,89598371,89598371,C,-,P299664_S,SPG7,Frame_Shift_Del,NM_001363850,exon8,c.1047delC,p.G352Afs*87,SNP,SNVindel,exonic,SPG7,NA,frameshift deletion,"SPG7:NM_001363850:exon8:c.1047delC:p.G352Afs*87,SPG7:NM_003119:exon8:c.1047delC:p.G352Afs*87,SPG7:NM_199367:exon8:c.1047delC:p.G352Afs*87",NA,NA,NA,NA,NA,NA
chr19,51645628,51645630,TGC,-,P299664_S,SIGLEC7,In_Frame_Del,NM_001277201,exon1,c.2_4del,p.L7del,DEL,SNVindel,exonic,SIGLEC7,NA,nonframeshift deletion,"SIGLEC7:NM_001277201:exon1:c.2_4del:p.L7del,SIGLEC7:NM_014385:exon1:c.2_4del:p.L7del,SIGLEC7:NM_016543:exon1:c.2_4del:p.L7del",NA,NA,NA,NA,NA,NA
chr21,10942925,10942927,CTT,-,P299664_S,TPTE,In_Frame_Del,NM_001290224,exon7,c.246_248del,p.R84del,DEL,SNVindel,exonic,TPTE,NA,nonframeshift deletion,"TPTE:NM_001290224:exon7:c.246_248del:p.R84del,TPTE:NM_199260:exon10:c.546_548del:p.R184del,TPTE:NM_199259:exon11:c.606_608del:p.R204del,TPTE:NM_199261:exon12:c.660_662del:p.R222del",NA,NA,NA,NA,NA,NA
chr1,93301949,93301949,G,-,P305087_F,RPL5,Frame_Shift_Del,NM_000969,exon5,c.527delG,p.S176Ifs*36,SNP,SNVindel,exonic,RPL5,NA,frameshift deletion,RPL5:NM_000969:exon5:c.527delG:p.S176Ifs*36,NA,NA,NA,NA,NA,NA
chr5,139493896,139493898,GGC,-,P305087_F,PURA,In_Frame_Del,NM_005859,exon1,c.130_132del,p.G49del,DEL,SNVindel,exonic,PURA,NA,nonframeshift deletion,PURA:NM_005859:exon1:c.130_132del:p.G49del,NA,NA,NA,NA,NA,NA
chr6,41168714,41168716,CAG,-,P305087_F,TREML2,In_Frame_Del,NM_024807,exon1,c.31_33del,p.L11del,DEL,SNVindel,exonic,TREML2,NA,nonframeshift deletion,TREML2:NM_024807:exon1:c.31_33del:p.L11del,NA,NA,NA,NA,NA,NA
chr7,5352791,5352793,GCT,-,P305087_F,TNRC18,In_Frame_Del,NM_001080495,exon27,c.7729_7731del,p.S2577del,DEL,SNVindel,exonic,TNRC18,NA,nonframeshift deletion,TNRC18:NM_001080495:exon27:c.7729_7731del:p.S2577del,NA,NA,NA,NA,NA,NA
chr7,45144147,45144147,G,-,P305087_F,TBRG4,Frame_Shift_Del,NM_001261834,exon4,c.930delC,p.Y311Mfs*28,SNP,SNVindel,exonic,TBRG4,NA,frameshift deletion,"TBRG4:NM_001261834:exon4:c.930delC:p.Y311Mfs*28,TBRG4:NM_004749:exon4:c.897delC:p.Y300Mfs*28",NA,NA,NA,NA,NA,NA
chr7,100483489,100483489,-,C,P305087_F,SRRT,Frame_Shift_Ins,NM_001128852,exon12,c.1383dupC,p.R462Pfs*12,SNP,SNVindel,exonic,SRRT,NA,frameshift insertion,"SRRT:NM_001128852:exon12:c.1383dupC:p.R462Pfs*12,SRRT:NM_001128853:exon12:c.1386dupC:p.R463Pfs*12,SRRT:NM_001128854:exon12:c.1383dupC:p.R462Pfs*12,SRRT:NM_015908:exon12:c.1386dupC:p.R463Pfs*12",NA,NA,NA,NA,NA,NA
chr7,138265339,138265339,-,A,P305087_F,TRIM24,Frame_Shift_Ins,NM_003852,exon16,c.2517dupA,p.S840Ifs*2,SNP,SNVindel,exonic,TRIM24,NA,frameshift insertion,"TRIM24:NM_003852:exon16:c.2517dupA:p.S840Ifs*2,TRIM24:NM_015905:exon16:c.2619dupA:p.S874Ifs*2",NA,NA,NA,NA,NA,NA
chr7,139094365,139094366,AG,-,P305087_F,FMC1-LUC7L2,Frame_Shift_Del,NM_016019,exon7,c.744_745del,p.E253Rfs*34,DEL,SNVindel,exonic,FMC1-LUC7L2;LUC7L2,NA,frameshift deletion,"LUC7L2:NM_016019:exon7:c.744_745del:p.E253Rfs*34,FMC1-LUC7L2:NM_001244584:exon8:c.942_943del:p.E319Rfs*34,LUC7L2:NM_001244585:exon8:c.735_736del:p.E250Rfs*34,LUC7L2:NM_001270643:exon8:c.741_742del:p.E252Rfs*34",NA,NA,NA,NA,NA,NA
chr10,70182520,70182520,-,A,P305087_F,DNA2,Frame_Shift_Ins,NM_001080449,exon15,c.2335dupT,p.S779Ffs*21,SNP,SNVindel,exonic,DNA2,NA,frameshift insertion,DNA2:NM_001080449:exon15:c.2335dupT:p.S779Ffs*21,NA,NA,NA,NA,NA,NA
chr10,70509285,70509286,GA,-,P305087_F,CCAR1,Frame_Shift_Del,NM_001282959,exon9,c.916_917del,p.E310Kfs*3,DEL,SNVindel,exonic,CCAR1,NA,frameshift deletion,"CCAR1:NM_001282959:exon9:c.916_917del:p.E310Kfs*3,CCAR1:NM_001282960:exon9:c.916_917del:p.E310Kfs*3,CCAR1:NM_018237:exon10:c.961_962del:p.E325Kfs*3",NA,NA,NA,NA,NA,NA
chr11,72353321,72353323,GCG,-,P305087_F,PDE2A,In_Frame_Del,NM_001143839,exon1,c.98_100del,p.P33del,DEL,SNVindel,exonic,PDE2A,NA,nonframeshift deletion,"PDE2A:NM_001143839:exon1:c.98_100del:p.P33del,PDE2A:NM_002599:exon2:c.119_121del:p.P40del,PDE2A:NM_001146209:exon3:c.92_94del:p.P31del",NA,NA,NA,NA,NA,NA
chr12,56137230,56137230,G,-,P305087_F,GDF11,Frame_Shift_Del,NM_005811,exon1,c.130delG,p.E46Sfs*31,SNP,SNVindel,exonic,GDF11,NA,frameshift deletion,GDF11:NM_005811:exon1:c.130delG:p.E46Sfs*31,NA,NA,NA,NA,NA,NA
chr14,20389598,20389598,-,C,P305087_F,OR4K5,Frame_Shift_Ins,NM_001005483,exon1,c.834dupC,p.T279Hfs*14,SNP,SNVindel,exonic,OR4K5,NA,frameshift insertion,OR4K5:NM_001005483:exon1:c.834dupC:p.T279Hfs*14,NA,NA,NA,NA,NA,NA
chr19,55146148,55146150,CTC,-,P305087_F,LILRB1,In_Frame_Del,NM_001278398,exon9,c.1369_1371del,p.L463del,DEL,SNVindel,exonic,LILRB1,NA,nonframeshift deletion,"LILRB1:NM_001278398:exon9:c.1369_1371del:p.L463del,LILRB1:NM_001081637:exon10:c.1420_1422del:p.L480del,LILRB1:NM_001081638:exon10:c.1420_1422del:p.L480del,LILRB1:NM_001081639:exon10:c.1417_1419del:p.L479del,LILRB1:NM_006669:exon11:c.1417_1419del:p.L479del",NA,NA,NA,NA,NA,NA
chr19,55944700,55944702,GTG,-,P305087_F,SHISA7,In_Frame_Del,NM_001145176,exon4,c.1438_1440del,p.H480del,DEL,SNVindel,exonic,SHISA7,NA,nonframeshift deletion,SHISA7:NM_001145176:exon4:c.1438_1440del:p.H480del,NA,NA,NA,NA,NA,NA
chr21,34442677,34442679,CCT,-,P305087_F,OLIG1,In_Frame_Del,NM_138983,exon1,c.125_127del,p.S48del,DEL,SNVindel,exonic,OLIG1,NA,nonframeshift deletion,OLIG1:NM_138983:exon1:c.125_127del:p.S48del,NA,NA,NA,NA,NA,NA
chr1,93301949,93301949,G,-,P305087_F1,RPL5,Frame_Shift_Del,NM_000969,exon5,c.527delG,p.S176Ifs*36,SNP,SNVindel,exonic,RPL5,NA,frameshift deletion,RPL5:NM_000969:exon5:c.527delG:p.S176Ifs*36,NA,NA,NA,NA,NA,NA
chr1,226570748,226570750,GAG,-,P305087_F1,PARP1,In_Frame_Del,NM_001618,exon8,c.1146_1148del,p.S383del,DEL,SNVindel,exonic,PARP1,NA,nonframeshift deletion,PARP1:NM_001618:exon8:c.1146_1148del:p.S383del,NA,NA,NA,NA,NA,NA
chr7,21582969,21582971,GAG,-,P305087_F1,DNAH11,In_Frame_Del,NM_001277115,exon1,c.106_108del,p.E40del,DEL,SNVindel,exonic,DNAH11,NA,nonframeshift deletion,DNAH11:NM_001277115:exon1:c.106_108del:p.E40del,NA,NA,NA,NA,NA,NA
chr7,45144147,45144147,G,-,P305087_F1,TBRG4,Frame_Shift_Del,NM_001261834,exon4,c.930delC,p.Y311Mfs*28,SNP,SNVindel,exonic,TBRG4,NA,frameshift deletion,"TBRG4:NM_001261834:exon4:c.930delC:p.Y311Mfs*28,TBRG4:NM_004749:exon4:c.897delC:p.Y300Mfs*28",NA,NA,NA,NA,NA,NA
chr7,100483489,100483489,-,C,P305087_F1,SRRT,Frame_Shift_Ins,NM_001128852,exon12,c.1383dupC,p.R462Pfs*12,SNP,SNVindel,exonic,SRRT,NA,frameshift insertion,"SRRT:NM_001128852:exon12:c.1383dupC:p.R462Pfs*12,SRRT:NM_001128853:exon12:c.1386dupC:p.R463Pfs*12,SRRT:NM_001128854:exon12:c.1383dupC:p.R462Pfs*12,SRRT:NM_015908:exon12:c.1386dupC:p.R463Pfs*12",NA,NA,NA,NA,NA,NA
chr7,138265339,138265339,-,A,P305087_F1,TRIM24,Frame_Shift_Ins,NM_003852,exon16,c.2517dupA,p.S840Ifs*2,SNP,SNVindel,exonic,TRIM24,NA,frameshift insertion,"TRIM24:NM_003852:exon16:c.2517dupA:p.S840Ifs*2,TRIM24:NM_015905:exon16:c.2619dupA:p.S874Ifs*2",NA,NA,NA,NA,NA,NA
chr10,60148570,60148570,A,-,P305087_F1,TFAM,Frame_Shift_Del,NM_001270782,exon4,c.432delA,p.E148Kfs*3,SNP,SNVindel,exonic,TFAM,NA,frameshift deletion,"TFAM:NM_001270782:exon4:c.432delA:p.E148Kfs*3,TFAM:NM_003201:exon4:c.432delA:p.E148Sfs*2",NA,NA,NA,NA,NA,NA
chr16,71417318,71417318,C,-,P305087_F1,CALB2,Frame_Shift_Del,NM_001740,exon6,c.448delC,p.K151Sfs*15,SNP,SNVindel,exonic,CALB2,NA,frameshift deletion,"CALB2:NM_001740:exon6:c.448delC:p.K151Sfs*15,CALB2:NM_007088:exon6:c.448delC:p.K151Sfs*15",NA,NA,NA,NA,NA,NA
chr21,33044257,33044259,GCT,-,P305087_F1,SCAF4,In_Frame_Del,NM_001145444,exon19,c.2852_2854del,p.Q951del,DEL,SNVindel,exonic,SCAF4,NA,nonframeshift deletion,"SCAF4:NM_001145444:exon19:c.2852_2854del:p.Q951del,SCAF4:NM_001145445:exon20:c.2831_2833del:p.Q944del,SCAF4:NM_020706:exon20:c.2897_2899del:p.Q966del",NA,NA,NA,NA,NA,NA
chr21,33949090,33949090,-,C,P305087_F1,C21orf59-TCP10L,Frame_Shift_Ins,NM_144659,exon5,c.641dupG,p.V215Cfs*49,SNP,SNVindel,exonic,C21orf59-TCP10L;TCP10L,NA,frameshift insertion,"TCP10L:NM_144659:exon5:c.641dupG:p.V215Cfs*49,C21orf59-TCP10L:NM_001350338:exon8:c.1163dupG:p.V389Cfs*49",NA,NA,NA,NA,NA,NA
chr22,18314825,18314827,CTC,-,P305087_F1,MICAL3,In_Frame_Del,NM_015241,exon21,c.2848_2850del,p.E950del,DEL,SNVindel,exonic,MICAL3,NA,nonframeshift deletion,MICAL3:NM_015241:exon21:c.2848_2850del:p.E950del,NA,NA,NA,NA,NA,NA
chrX,68725179,68725181,CTG,-,P305087_F1,FAM155B,In_Frame_Del,NM_015686,exon1,c.54_56del,p.C24del,DEL,SNVindel,exonic,FAM155B,NA,nonframeshift deletion,FAM155B:NM_015686:exon1:c.54_56del:p.C24del,NA,NA,NA,NA,NA,NA
chr1,93301949,93301949,G,-,P305087_S,RPL5,Frame_Shift_Del,NM_000969,exon5,c.527delG,p.S176Ifs*36,SNP,SNVindel,exonic,RPL5,NA,frameshift deletion,RPL5:NM_000969:exon5:c.527delG:p.S176Ifs*36,NA,NA,NA,NA,NA,NA
chr1,231502214,231502214,T,-,P305087_S,EGLN1,Frame_Shift_Del,NM_022051,exon5,c.1224delA,p.G409Vfs*2,SNP,SNVindel,exonic,EGLN1,NA,frameshift deletion,EGLN1:NM_022051:exon5:c.1224delA:p.G409Vfs*2,NA,NA,NA,NA,NA,NA
chr3,183493803,183493805,AGG,-,P305087_S,YEATS2,In_Frame_Del,NM_001351369,exon18,c.2469_2471del,p.G828del,DEL,SNVindel,exonic,YEATS2,NA,nonframeshift deletion,"YEATS2:NM_001351369:exon18:c.2469_2471del:p.G828del,YEATS2:NM_001351370:exon18:c.2472_2474del:p.G829del,YEATS2:NM_001351371:exon18:c.2469_2471del:p.G828del,YEATS2:NM_018023:exon18:c.2469_2471del:p.G828del",NA,NA,NA,NA,NA,NA
chr4,15005348,15005350,GGC,-,P305087_S,CPEB2,In_Frame_Del,NM_001177381,exon1,c.1051_1053del,p.G360del,DEL,SNVindel,exonic,CPEB2,NA,nonframeshift deletion,"CPEB2:NM_001177381:exon1:c.1051_1053del:p.G360del,CPEB2:NM_001177382:exon1:c.1051_1053del:p.G360del,CPEB2:NM_001177383:exon1:c.1051_1053del:p.G360del,CPEB2:NM_001177384:exon1:c.1051_1053del:p.G360del,CPEB2:NM_182485:exon1:c.1051_1053del:p.G360del,CPEB2:NM_182646:exon1:c.1051_1053del:p.G360del",NA,NA,NA,NA,NA,NA
chr6,108214754,108214754,-,T,P305087_S,SEC63,Frame_Shift_Ins,NM_007214,exon16,c.1605dupA,p.P536Tfs*24,SNP,SNVindel,exonic,SEC63,NA,frameshift insertion,SEC63:NM_007214:exon16:c.1605dupA:p.P536Tfs*24,NA,NA,NA,NA,NA,NA
chr7,6682654,6682656,GAG,-,P305087_S,ZNF316,In_Frame_Del,NM_001278559,exon6,c.415_417del,p.E142del,DEL,SNVindel,exonic,ZNF316,NA,nonframeshift deletion,ZNF316:NM_001278559:exon6:c.415_417del:p.E142del,NA,NA,NA,NA,NA,NA
chr7,45144147,45144147,G,-,P305087_S,TBRG4,Frame_Shift_Del,NM_001261834,exon4,c.930delC,p.Y311Mfs*28,SNP,SNVindel,exonic,TBRG4,NA,frameshift deletion,"TBRG4:NM_001261834:exon4:c.930delC:p.Y311Mfs*28,TBRG4:NM_004749:exon4:c.897delC:p.Y300Mfs*28",NA,NA,NA,NA,NA,NA
chr7,100483489,100483489,-,C,P305087_S,SRRT,Frame_Shift_Ins,NM_001128852,exon12,c.1383dupC,p.R462Pfs*12,SNP,SNVindel,exonic,SRRT,NA,frameshift insertion,"SRRT:NM_001128852:exon12:c.1383dupC:p.R462Pfs*12,SRRT:NM_001128853:exon12:c.1386dupC:p.R463Pfs*12,SRRT:NM_001128854:exon12:c.1383dupC:p.R462Pfs*12,SRRT:NM_015908:exon12:c.1386dupC:p.R463Pfs*12",NA,NA,NA,NA,NA,NA
chr7,138265339,138265339,-,A,P305087_S,TRIM24,Frame_Shift_Ins,NM_003852,exon16,c.2517dupA,p.S840Ifs*2,SNP,SNVindel,exonic,TRIM24,NA,frameshift insertion,"TRIM24:NM_003852:exon16:c.2517dupA:p.S840Ifs*2,TRIM24:NM_015905:exon16:c.2619dupA:p.S874Ifs*2",NA,NA,NA,NA,NA,NA
chr12,72148921,72148923,CGG,-,P305087_S,RAB21,In_Frame_Del,NM_014999,exon1,c.12_14del,p.G10del,DEL,SNVindel,exonic,RAB21,NA,nonframeshift deletion,RAB21:NM_014999:exon1:c.12_14del:p.G10del,NA,NA,NA,NA,NA,NA
chr14,20389598,20389598,-,C,P305087_S,OR4K5,Frame_Shift_Ins,NM_001005483,exon1,c.834dupC,p.T279Hfs*14,SNP,SNVindel,exonic,OR4K5,NA,frameshift insertion,OR4K5:NM_001005483:exon1:c.834dupC:p.T279Hfs*14,NA,NA,NA,NA,NA,NA
chr15,23686113,23686113,-,TGCTCTTGCATCTTCTCG,P305087_S,GOLGA6L2,In_Frame_Ins,NM_001304388,exon8,c.1508_1509insCGAGAAGATGCAAGAGCA,p.E502_Q503insHEKMQE,INS,SNVindel,exonic,GOLGA6L2,NA,nonframeshift insertion,GOLGA6L2:NM_001304388:exon8:c.1508_1509insCGAGAAGATGCAAGAGCA:p.E502_Q503insHEKMQE,NA,NA,NA,NA,NA,NA
chr19,3286004,3286006,GCA,-,P305087_S,CELF5,In_Frame_Del,NM_001172673,exon10,c.1092_1094del,p.Q368del,DEL,SNVindel,exonic,CELF5,NA,nonframeshift deletion,"CELF5:NM_001172673:exon10:c.1092_1094del:p.Q368del,CELF5:NM_021938:exon10:c.1167_1169del:p.Q393del",NA,NA,NA,NA,NA,NA
chr22,40045758,40045760,AGG,-,P305087_S,CACNA1I,In_Frame_Del,NM_001003406,exon9,c.1715_1717del,p.E578del,DEL,SNVindel,exonic,CACNA1I,NA,nonframeshift deletion,"CACNA1I:NM_001003406:exon9:c.1715_1717del:p.E578del,CACNA1I:NM_021096:exon10:c.1820_1822del:p.E613del",NA,NA,NA,NA,NA,NA
chrX,8763254,8763256,CTC,-,P305087_S,FAM9A,In_Frame_Del,NM_001171186,exon7,c.694_696del,p.E232del,DEL,SNVindel,exonic,FAM9A,NA,nonframeshift deletion,"FAM9A:NM_001171186:exon7:c.694_696del:p.E232del,FAM9A:NM_174951:exon7:c.694_696del:p.E232del",NA,NA,NA,NA,NA,NA
chrX,53264131,53264133,TGG,-,P305087_S,IQSEC2,In_Frame_Del,NM_001111125,exon15,c.3735_3737del,p.H1247del,DEL,SNVindel,exonic,IQSEC2,NA,nonframeshift deletion,IQSEC2:NM_001111125:exon15:c.3735_3737del:p.H1247del,NA,NA,NA,NA,NA,NA
chr1,55680541,55680543,GCC,-,P305087_S1,USP24,In_Frame_Del,NM_015306,exon1,c.244_246del,p.G82del,DEL,SNVindel,exonic,USP24,NA,nonframeshift deletion,USP24:NM_015306:exon1:c.244_246del:p.G82del,NA,NA,NA,NA,NA,NA
chr1,93301949,93301949,G,-,P305087_S1,RPL5,Frame_Shift_Del,NM_000969,exon5,c.527delG,p.S176Ifs*36,SNP,SNVindel,exonic,RPL5,NA,frameshift deletion,RPL5:NM_000969:exon5:c.527delG:p.S176Ifs*36,NA,NA,NA,NA,NA,NA
chr6,19838106,19838108,GCG,-,P305087_S1,ID4,In_Frame_Del,NM_001546,exon1,c.121_123del,p.A48del,DEL,SNVindel,exonic,ID4,NA,nonframeshift deletion,ID4:NM_001546:exon1:c.121_123del:p.A48del,NA,NA,NA,NA,NA,NA
chr6,157100024,157100026,GGA,-,P305087_S1,ARID1B,In_Frame_Del,NM_001346813,exon1,c.961_963del,p.G328del,DEL,SNVindel,exonic,ARID1B,NA,nonframeshift deletion,"ARID1B:NM_001346813:exon1:c.961_963del:p.G328del,ARID1B:NM_017519:exon1:c.961_963del:p.G328del,ARID1B:NM_020732:exon1:c.961_963del:p.G328del",NA,NA,NA,NA,NA,NA
chr7,45144147,45144147,G,-,P305087_S1,TBRG4,Frame_Shift_Del,NM_001261834,exon4,c.930delC,p.Y311Mfs*28,SNP,SNVindel,exonic,TBRG4,NA,frameshift deletion,"TBRG4:NM_001261834:exon4:c.930delC:p.Y311Mfs*28,TBRG4:NM_004749:exon4:c.897delC:p.Y300Mfs*28",NA,NA,NA,NA,NA,NA
chr7,100483489,100483489,-,C,P305087_S1,SRRT,Frame_Shift_Ins,NM_001128852,exon12,c.1383dupC,p.R462Pfs*12,SNP,SNVindel,exonic,SRRT,NA,frameshift insertion,"SRRT:NM_001128852:exon12:c.1383dupC:p.R462Pfs*12,SRRT:NM_001128853:exon12:c.1386dupC:p.R463Pfs*12,SRRT:NM_001128854:exon12:c.1383dupC:p.R462Pfs*12,SRRT:NM_015908:exon12:c.1386dupC:p.R463Pfs*12",NA,NA,NA,NA,NA,NA
chr7,138265339,138265339,-,A,P305087_S1,TRIM24,Frame_Shift_Ins,NM_003852,exon16,c.2517dupA,p.S840Ifs*2,SNP,SNVindel,exonic,TRIM24,NA,frameshift insertion,"TRIM24:NM_003852:exon16:c.2517dupA:p.S840Ifs*2,TRIM24:NM_015905:exon16:c.2619dupA:p.S874Ifs*2",NA,NA,NA,NA,NA,NA
chr10,79397264,79397266,GAG,-,P305087_S1,KCNMA1,In_Frame_Del,NM_001014797,exon1,c.135_137del,p.S60del,DEL,SNVindel,exonic,KCNMA1,NA,nonframeshift deletion,"KCNMA1:NM_001014797:exon1:c.135_137del:p.S60del,KCNMA1:NM_001161352:exon1:c.135_137del:p.S60del,KCNMA1:NM_001161353:exon1:c.135_137del:p.S60del,KCNMA1:NM_001271518:exon1:c.135_137del:p.S60del,KCNMA1:NM_001271519:exon1:c.135_137del:p.S60del,KCNMA1:NM_001271520:exon1:c.135_137del:p.S60del,KCNMA1:NM_001271521:exon1:c.135_137del:p.S60del,KCNMA1:NM_001271522:exon1:c.135_137del:p.S60del,KCNMA1:NM_001322829:exon1:c.135_137del:p.S60del,KCNMA1:NM_001322830:exon1:c.135_137del:p.S60del,KCNMA1:NM_001322832:exon1:c.135_137del:p.S60del,KCNMA1:NM_001322835:exon1:c.135_137del:p.S60del,KCNMA1:NM_001322836:exon1:c.135_137del:p.S60del,KCNMA1:NM_001322837:exon1:c.135_137del:p.S60del,KCNMA1:NM_001322839:exon1:c.135_137del:p.S60del,KCNMA1:NM_002247:exon1:c.135_137del:p.S60del",NA,NA,NA,NA,NA,NA
chr14,20389598,20389598,-,C,P305087_S1,OR4K5,Frame_Shift_Ins,NM_001005483,exon1,c.834dupC,p.T279Hfs*14,SNP,SNVindel,exonic,OR4K5,NA,frameshift insertion,OR4K5:NM_001005483:exon1:c.834dupC:p.T279Hfs*14,NA,NA,NA,NA,NA,NA
chrX,68725179,68725181,CTG,-,P305087_S1,FAM155B,In_Frame_Del,NM_015686,exon1,c.54_56del,p.C24del,DEL,SNVindel,exonic,FAM155B,NA,nonframeshift deletion,FAM155B:NM_015686:exon1:c.54_56del:p.C24del,NA,NA,NA,NA,NA,NA
chr1,93301949,93301949,G,-,P305087_T,RPL5,Frame_Shift_Del,NM_000969,exon5,c.527delG,p.S176Ifs*36,SNP,SNVindel,exonic,RPL5,NA,frameshift deletion,RPL5:NM_000969:exon5:c.527delG:p.S176Ifs*36,NA,NA,NA,NA,NA,NA
chr1,154317504,154317504,A,-,P305087_T,ATP8B2,Frame_Shift_Del,NM_001367934,exon21,c.2401delA,p.A802Lfs*7,SNP,SNVindel,exonic,ATP8B2,NA,frameshift deletion,"ATP8B2:NM_001367934:exon21:c.2401delA:p.A802Lfs*7,ATP8B2:NM_001370596:exon22:c.2347delA:p.A784Lfs*7,ATP8B2:NM_001370597:exon22:c.2344delA:p.A783Lfs*7,ATP8B2:NM_020452:exon22:c.2443delA:p.A816Lfs*7",NA,NA,NA,NA,NA,NA
chr2,71190724,71190732,CTTGACGGG,-,P305087_T,ATP6V1B1,In_Frame_Del,NM_001692,exon11,c.1083_1091del,p.L362_G364del,DEL,SNVindel,exonic,ATP6V1B1,NA,nonframeshift deletion,ATP6V1B1:NM_001692:exon11:c.1083_1091del:p.L362_G364del,NA,NA,NA,NA,NA,NA
chr4,88929174,88929176,GAG,-,P305087_T,PKD2,In_Frame_Del,NM_000297,exon1,c.289_291del,p.E102del,DEL,SNVindel,exonic,PKD2,NA,nonframeshift deletion,PKD2:NM_000297:exon1:c.289_291del:p.E102del,NA,NA,NA,NA,NA,NA
chr5,61826584,61826589,TATATT,-,P305087_T,IPO11,In_Frame_Del,NM_001134779,exon22,c.2181_2186del,p.I728_F729del,DEL,SNVindel,exonic,IPO11,NA,nonframeshift deletion,"IPO11:NM_001134779:exon22:c.2181_2186del:p.I728_F729del,IPO11:NM_016338:exon22:c.2061_2066del:p.I688_F689del",NA,NA,NA,NA,NA,NA
chr5,150603485,150603485,T,-,P305087_T,CCDC69,Frame_Shift_Del,NM_015621,exon1,c.47delA,p.K16Rfs*19,SNP,SNVindel,exonic,CCDC69,NA,frameshift deletion,CCDC69:NM_015621:exon1:c.47delA:p.K16Rfs*19,NA,NA,NA,NA,NA,NA
chr7,2403309,2403313,CAGTA,-,P305087_T,EIF3B,Frame_Shift_Del,NM_001037283,exon5,c.913_917del,p.Y306Cfs*4,DEL,SNVindel,exonic,EIF3B,NA,frameshift deletion,"EIF3B:NM_001037283:exon5:c.913_917del:p.Y306Cfs*4,EIF3B:NM_001362791:exon5:c.913_917del:p.Y306Cfs*4,EIF3B:NM_003751:exon5:c.913_917del:p.Y306Cfs*4,EIF3B:NM_001362792:exon6:c.97_101del:p.Y34Cfs*4,EIF3B:NM_001362793:exon6:c.97_101del:p.Y34Cfs*4",NA,NA,NA,NA,NA,NA
chr7,30634583,30634585,CTG,-,P305087_T,GARS,In_Frame_Del,NM_002047,exon1,c.46_48del,p.L20del,DEL,SNVindel,exonic,GARS,NA,nonframeshift deletion,GARS:NM_002047:exon1:c.46_48del:p.L20del,NA,NA,NA,NA,NA,NA
chr7,45144147,45144147,G,-,P305087_T,TBRG4,Frame_Shift_Del,NM_001261834,exon4,c.930delC,p.Y311Mfs*28,SNP,SNVindel,exonic,TBRG4,NA,frameshift deletion,"TBRG4:NM_001261834:exon4:c.930delC:p.Y311Mfs*28,TBRG4:NM_004749:exon4:c.897delC:p.Y300Mfs*28",NA,NA,NA,NA,NA,NA
chr7,100483489,100483489,-,C,P305087_T,SRRT,Frame_Shift_Ins,NM_001128852,exon12,c.1383dupC,p.R462Pfs*12,SNP,SNVindel,exonic,SRRT,NA,frameshift insertion,"SRRT:NM_001128852:exon12:c.1383dupC:p.R462Pfs*12,SRRT:NM_001128853:exon12:c.1386dupC:p.R463Pfs*12,SRRT:NM_001128854:exon12:c.1383dupC:p.R462Pfs*12,SRRT:NM_015908:exon12:c.1386dupC:p.R463Pfs*12",NA,NA,NA,NA,NA,NA
chr7,138265339,138265339,-,A,P305087_T,TRIM24,Frame_Shift_Ins,NM_003852,exon16,c.2517dupA,p.S840Ifs*2,SNP,SNVindel,exonic,TRIM24,NA,frameshift insertion,"TRIM24:NM_003852:exon16:c.2517dupA:p.S840Ifs*2,TRIM24:NM_015905:exon16:c.2619dupA:p.S874Ifs*2",NA,NA,NA,NA,NA,NA
chr8,145161530,145161530,-,A,P305087_T,MAF1,Frame_Shift_Ins,NM_032272,exon6,c.574dupA,p.N192Kfs*11,SNP,SNVindel,exonic,MAF1,NA,frameshift insertion,MAF1:NM_032272:exon6:c.574dupA:p.N192Kfs*11,NA,NA,NA,NA,NA,NA
chr12,102142968,102142968,T,-,P305087_T,GNPTAB,Frame_Shift_Del,NM_024312,exon20,c.3604delA,p.R1202Gfs*7,SNP,SNVindel,exonic,GNPTAB,NA,frameshift deletion,GNPTAB:NM_024312:exon20:c.3604delA:p.R1202Gfs*7,NA,NA,NA,NA,NA,NA
chr16,88599695,88599695,G,-,P305087_T,ZFPM1,Frame_Shift_Del,NM_153813,exon10,c.1329delG,p.E444Sfs*354,SNP,SNVindel,exonic,ZFPM1,NA,frameshift deletion,ZFPM1:NM_153813:exon10:c.1329delG:p.E444Sfs*354,NA,NA,NA,NA,NA,NA
chr19,15905556,15905556,A,-,P305087_T,OR10H5,Frame_Shift_Del,NM_001004466,exon1,c.698delA,p.G234Vfs*28,SNP,SNVindel,exonic,OR10H5,NA,frameshift deletion,OR10H5:NM_001004466:exon1:c.698delA:p.G234Vfs*28,NA,NA,NA,NA,NA,NA
chr1,2461019,2461027,GGCGGGCGC,-,P310851_F,HES5,In_Frame_Del,NM_001010926,exon3,c.382_390del,p.A128_A130del,DEL,SNVindel,exonic,HES5,NA,nonframeshift deletion,HES5:NM_001010926:exon3:c.382_390del:p.A128_A130del,NA,NA,NA,NA,NA,NA
chr1,27101611,27101611,-,C,P310851_F,ARID1A,Frame_Shift_Ins,NM_006015,exon18,c.4894dupC,p.M1634Hfs*14,SNP,SNVindel,exonic,ARID1A,NA,frameshift insertion,"ARID1A:NM_006015:exon18:c.4894dupC:p.M1634Hfs*14,ARID1A:NM_139135:exon18:c.4243dupC:p.M1417Hfs*14",NA,NA,NA,NA,NA,NA
chr1,226736634,226736636,CGG,-,P310851_F,STUM,In_Frame_Del,NM_001003665,exon1,c.29_31del,p.A16del,DEL,SNVindel,exonic,STUM,NA,nonframeshift deletion,STUM:NM_001003665:exon1:c.29_31del:p.A16del,NA,NA,NA,NA,NA,NA
chr2,37368723,37368723,-,ACTGTTCATA,P310851_F,EIF2AK2,Nonsense_Mutation,NM_001135652,exon3,c.361_362insTATGAACAGT,p.C121Lfs*2,INS,SNVindel,exonic,EIF2AK2,NA,stopgain,"EIF2AK2:NM_001135652:exon3:c.361_362insTATGAACAGT:p.C121Lfs*2,EIF2AK2:NM_001135651:exon5:c.361_362insTATGAACAGT:p.C121Lfs*2,EIF2AK2:NM_002759:exon5:c.361_362insTATGAACAGT:p.C121Lfs*2",NA,NA,NA,NA,NA,NA
chr2,133531462,133531463,TT,-,P310851_F,NCKAP5,Frame_Shift_Del,NM_207481,exon14,c.1097_1098del,p.K366Rfs*4,DEL,SNVindel,exonic,NCKAP5,NA,frameshift deletion,"NCKAP5:NM_207481:exon14:c.1097_1098del:p.K366Rfs*4,NCKAP5:NM_207363:exon16:c.5054_5055del:p.K1685Rfs*4",NA,NA,NA,NA,NA,NA
chr7,55249014,55249014,-,CCCCCACAC,P310851_F,EGFR,In_Frame_Ins,NM_001346941,exon14,c.1511_1512insCCCCCACAC,p.H506_V507insTPH,INS,SNVindel,exonic,EGFR,NA,nonframeshift insertion,"EGFR:NM_001346941:exon14:c.1511_1512insCCCCCACAC:p.H506_V507insTPH,EGFR:NM_001346897:exon19:c.2177_2178insCCCCCACAC:p.H728_V729insTPH,EGFR:NM_001346899:exon19:c.2177_2178insCCCCCACAC:p.H728_V729insTPH,EGFR:NM_001346898:exon20:c.2312_2313insCCCCCACAC:p.H773_V774insTPH,EGFR:NM_001346900:exon20:c.2153_2154insCCCCCACAC:p.H720_V721insTPH,EGFR:NM_005228:exon20:c.2312_2313insCCCCCACAC:p.H773_V774insTPH",NA,NA,NA,NA,NA,NA
chr8,110539106,110539108,GCA,-,P310851_F,PKHD1L1,In_Frame_Del,NM_177531,exon77,c.12578_12580del,p.S4198del,DEL,SNVindel,exonic,PKHD1L1,NA,nonframeshift deletion,PKHD1L1:NM_177531:exon77:c.12578_12580del:p.S4198del,NA,NA,NA,NA,NA,NA
chr10,71905929,71905931,CAG,-,P310851_F,TYSND1,In_Frame_Del,NM_001040273,exon1,c.412_414del,p.L138del,DEL,SNVindel,exonic,TYSND1,NA,nonframeshift deletion,"TYSND1:NM_001040273:exon1:c.412_414del:p.L138del,TYSND1:NM_173555:exon1:c.412_414del:p.L138del",NA,NA,NA,NA,NA,NA
chr10,76784946,76784949,ACAA,-,P310851_F,KAT6B,Frame_Shift_Del,NM_001370135,exon9,c.1260_1263del,p.T422Rfs*21,DEL,SNVindel,exonic,KAT6B,NA,frameshift deletion,"KAT6B:NM_001370135:exon9:c.1260_1263del:p.T422Rfs*21,KAT6B:NM_001370133:exon10:c.1914_1917del:p.T640Rfs*21,KAT6B:NM_001370134:exon11:c.1518_1521del:p.T508Rfs*21,KAT6B:NM_001370143:exon14:c.2538_2541del:p.T848Rfs*21,KAT6B:NM_001370144:exon15:c.2538_2541del:p.T848Rfs*21,KAT6B:NM_001370132:exon16:c.2565_2568del:p.T857Rfs*21,KAT6B:NM_001370141:exon16:c.2727_2730del:p.T911Rfs*21,KAT6B:NM_001370142:exon16:c.2727_2730del:p.T911Rfs*21,KAT6B:NM_001256468:exon17:c.3054_3057del:p.T1020Rfs*21,KAT6B:NM_001256469:exon17:c.2727_2730del:p.T911Rfs*21,KAT6B:NM_001370136:exon17:c.3603_3606del:p.T1203Rfs*21,KAT6B:NM_001370137:exon17:c.3603_3606del:p.T1203Rfs*21,KAT6B:NM_001370138:exon17:c.3054_3057del:p.T1020Rfs*21,KAT6B:NM_001370139:exon17:c.2727_2730del:p.T911Rfs*21,KAT6B:NM_001370140:exon17:c.2727_2730del:p.T911Rfs*21,KAT6B:NM_012330:exon17:c.3603_3606del:p.T1203Rfs*21",NA,NA,NA,NA,NA,NA
chr11,67203697,67203699,AGC,-,P310851_F,PTPRCAP,In_Frame_Del,NM_005608,exon2,c.126_128del,p.L46del,DEL,SNVindel,exonic,PTPRCAP,NA,nonframeshift deletion,PTPRCAP:NM_005608:exon2:c.126_128del:p.L46del,NA,NA,NA,NA,NA,NA
chr11,77784147,77784147,A,-,P310851_F,NDUFC2,Frame_Shift_Del,NM_001203260,exon2,c.207delT,p.F69Lfs*7,SNP,SNVindel,exonic,NDUFC2;NDUFC2-KCTD14,NA,frameshift deletion,"NDUFC2-KCTD14:NM_001203260:exon2:c.207delT:p.F69Lfs*7,NDUFC2-KCTD14:NM_001203261:exon2:c.207delT:p.F69Lfs*7,NDUFC2:NM_001204054:exon2:c.207delT:p.F69Lfs*7,NDUFC2:NM_004549:exon2:c.207delT:p.F69Lfs*7",NA,NA,NA,NA,NA,NA
chrX,66765159,66765161,GCA,-,P310851_F,AR,In_Frame_Del,NM_000044,exon1,c.171_173del,p.Q80del,DEL,SNVindel,exonic,AR,NA,nonframeshift deletion,"AR:NM_000044:exon1:c.171_173del:p.Q80del,AR:NM_001348061:exon1:c.171_173del:p.Q80del,AR:NM_001348063:exon1:c.171_173del:p.Q80del,AR:NM_001348064:exon1:c.171_173del:p.Q80del",NA,NA,NA,NA,NA,NA
chr1,27101611,27101611,-,C,P310851_S,ARID1A,Frame_Shift_Ins,NM_006015,exon18,c.4894dupC,p.M1634Hfs*14,SNP,SNVindel,exonic,ARID1A,NA,frameshift insertion,"ARID1A:NM_006015:exon18:c.4894dupC:p.M1634Hfs*14,ARID1A:NM_139135:exon18:c.4243dupC:p.M1417Hfs*14",NA,NA,NA,NA,NA,NA
chr1,27875905,27875905,C,-,P310851_S,AHDC1,Frame_Shift_Del,NM_001029882,exon6,c.2722delG,p.D908Tfs*24,SNP,SNVindel,exonic,AHDC1,NA,frameshift deletion,AHDC1:NM_001029882:exon6:c.2722delG:p.D908Tfs*24,NA,NA,NA,NA,NA,NA
chr1,200842776,200842778,TGC,-,P310851_S,GPR25,In_Frame_Del,NM_005298,exon1,c.611_613del,p.L209del,DEL,SNVindel,exonic,GPR25,NA,nonframeshift deletion,GPR25:NM_005298:exon1:c.611_613del:p.L209del,NA,NA,NA,NA,NA,NA
chr4,18023310,18023312,GCG,-,P310851_S,LCORL,In_Frame_Del,NM_001166139,exon1,c.63_65del,p.A22del,DEL,SNVindel,exonic,LCORL,NA,nonframeshift deletion,"LCORL:NM_001166139:exon1:c.63_65del:p.A22del,LCORL:NM_001365660:exon1:c.63_65del:p.A22del,LCORL:NM_001365661:exon1:c.63_65del:p.A22del,LCORL:NM_001365662:exon1:c.63_65del:p.A22del,LCORL:NM_001365663:exon1:c.63_65del:p.A22del,LCORL:NM_001365665:exon1:c.63_65del:p.A22del,LCORL:NM_153686:exon1:c.63_65del:p.A22del",NA,NA,NA,NA,NA,NA
chr4,170043324,170043326,CAG,-,P310851_S,SH3RF1,In_Frame_Del,NM_020870,exon7,c.1271_1273del,p.A424del,DEL,SNVindel,exonic,SH3RF1,NA,nonframeshift deletion,SH3RF1:NM_020870:exon7:c.1271_1273del:p.A424del,NA,NA,NA,NA,NA,NA
chr6,147042567,147042570,TATT,-,P310851_S,ADGB,Nonsense_Mutation,NM_024694,exon17,c.2021_2024del,p.F675*,DEL,SNVindel,exonic,ADGB,NA,stopgain,ADGB:NM_024694:exon17:c.2021_2024del:p.F675*,NA,NA,NA,NA,NA,NA
chr7,65419354,65419356,TTA,-,P310851_S,VKORC1L1,In_Frame_Del,NM_001284342,exon2,c.488_490del,p.I171del,DEL,SNVindel,exonic,VKORC1L1,NA,nonframeshift deletion,VKORC1L1:NM_001284342:exon2:c.488_490del:p.I171del,NA,NA,NA,NA,NA,NA
chr7,101892133,101892135,CAG,-,P310851_S,CUX1,In_Frame_Del,NM_001202543,exon24,c.4362_4364del,p.S1459del,DEL,SNVindel,exonic,CUX1,NA,nonframeshift deletion,"CUX1:NM_001202543:exon24:c.4362_4364del:p.S1459del,CUX1:NM_181552:exon24:c.4329_4331del:p.S1448del",NA,NA,NA,NA,NA,NA
chr7,104844170,104844172,GGT,-,P310851_S,SRPK2,In_Frame_Del,NM_001350739,exon2,c.99_101del,p.P36del,DEL,SNVindel,exonic,SRPK2,NA,nonframeshift deletion,"SRPK2:NM_001350739:exon2:c.99_101del:p.P36del,SRPK2:NM_001350744:exon2:c.99_101del:p.P36del,SRPK2:NM_001350745:exon2:c.99_101del:p.P36del,SRPK2:NM_182691:exon2:c.99_101del:p.P36del,SRPK2:NM_001350740:exon3:c.243_245del:p.P84del,SRPK2:NM_001350741:exon3:c.132_134del:p.P47del,SRPK2:NM_182692:exon3:c.132_134del:p.P47del,SRPK2:NM_001278273:exon4:c.99_101del:p.P36del,SRPK2:NM_001350738:exon4:c.99_101del:p.P36del,SRPK2:NM_001350742:exon4:c.210_212del:p.P73del,SRPK2:NM_001350743:exon4:c.99_101del:p.P36del,SRPK2:NM_001350746:exon4:c.210_212del:p.P73del",NA,NA,NA,NA,NA,NA
chr10,76784946,76784949,ACAA,-,P310851_S,KAT6B,Frame_Shift_Del,NM_001370135,exon9,c.1260_1263del,p.T422Rfs*21,DEL,SNVindel,exonic,KAT6B,NA,frameshift deletion,"KAT6B:NM_001370135:exon9:c.1260_1263del:p.T422Rfs*21,KAT6B:NM_001370133:exon10:c.1914_1917del:p.T640Rfs*21,KAT6B:NM_001370134:exon11:c.1518_1521del:p.T508Rfs*21,KAT6B:NM_001370143:exon14:c.2538_2541del:p.T848Rfs*21,KAT6B:NM_001370144:exon15:c.2538_2541del:p.T848Rfs*21,KAT6B:NM_001370132:exon16:c.2565_2568del:p.T857Rfs*21,KAT6B:NM_001370141:exon16:c.2727_2730del:p.T911Rfs*21,KAT6B:NM_001370142:exon16:c.2727_2730del:p.T911Rfs*21,KAT6B:NM_001256468:exon17:c.3054_3057del:p.T1020Rfs*21,KAT6B:NM_001256469:exon17:c.2727_2730del:p.T911Rfs*21,KAT6B:NM_001370136:exon17:c.3603_3606del:p.T1203Rfs*21,KAT6B:NM_001370137:exon17:c.3603_3606del:p.T1203Rfs*21,KAT6B:NM_001370138:exon17:c.3054_3057del:p.T1020Rfs*21,KAT6B:NM_001370139:exon17:c.2727_2730del:p.T911Rfs*21,KAT6B:NM_001370140:exon17:c.2727_2730del:p.T911Rfs*21,KAT6B:NM_012330:exon17:c.3603_3606del:p.T1203Rfs*21",NA,NA,NA,NA,NA,NA
chr12,132335752,132335754,TGC,-,P310851_S,MMP17,In_Frame_Del,NM_016155,exon10,c.1745_1747del,p.L586del,DEL,SNVindel,exonic,MMP17,NA,nonframeshift deletion,MMP17:NM_016155:exon10:c.1745_1747del:p.L586del,NA,NA,NA,NA,NA,NA
chr13,64407038,64407061,GAGCCATAGCCACAGCCATAACCA,-,P310851_S,LOC647264,In_Frame_Del,NM_001370368,exon1,c.66_89del,p.G23_S30del,DEL,SNVindel,exonic,LOC647264,NA,nonframeshift deletion,LOC647264:NM_001370368:exon1:c.66_89del:p.G23_S30del,NA,NA,NA,NA,NA,NA
chr19,615947,615949,CCG,-,P310851_S,HCN2,In_Frame_Del,NM_001194,exon8,c.2143_2145del,p.P721del,DEL,SNVindel,exonic,HCN2,NA,nonframeshift deletion,HCN2:NM_001194:exon8:c.2143_2145del:p.P721del,NA,NA,NA,NA,NA,NA
chr2,197657762,197657764,TCC,-,P342989_F,GTF3C3,In_Frame_Del,NM_001206774,exon3,c.327_329del,p.E111del,DEL,SNVindel,exonic,GTF3C3,NA,nonframeshift deletion,"GTF3C3:NM_001206774:exon3:c.327_329del:p.E111del,GTF3C3:NM_012086:exon3:c.327_329del:p.E111del",NA,NA,NA,NA,NA,NA
chr7,114562639,114562641,GAG,-,P342989_F,MDFIC,In_Frame_Del,NM_001166346,exon1,c.168_170del,p.R62del,DEL,SNVindel,exonic,MDFIC,NA,nonframeshift deletion,"MDFIC:NM_001166346:exon1:c.168_170del:p.R62del,MDFIC:NM_199072:exon1:c.168_170del:p.R62del",NA,NA,NA,NA,NA,NA
chr7,124469331,124469335,CACGA,-,P342989_F,POT1,Frame_Shift_Del,NM_001042594,exon15,c.1174_1178del,p.S392Dfs*25,DEL,SNVindel,exonic,POT1,NA,frameshift deletion,"POT1:NM_001042594:exon15:c.1174_1178del:p.S392Dfs*25,POT1:NM_015450:exon16:c.1567_1571del:p.S523Dfs*25",NA,NA,NA,NA,NA,NA
chr10,89711883,89711883,T,-,P342989_F,PTEN,Frame_Shift_Del,NM_000314,exon6,c.501delT,p.I168Ffs*15,SNP,SNVindel,exonic,PTEN,NA,frameshift deletion,"PTEN:NM_000314:exon6:c.501delT:p.I168Ffs*15,PTEN:NM_001304717:exon7:c.1020delT:p.I341Ffs*15",NA,NA,NA,NA,NA,NA
chr12,39155917,39155917,-,A,P342989_F,CPNE8,Frame_Shift_Ins,NM_153634,exon9,c.676_677insT,p.D226Vfs*10,SNP,SNVindel,exonic,CPNE8,NA,frameshift insertion,CPNE8:NM_153634:exon9:c.676_677insT:p.D226Vfs*10,NA,NA,NA,NA,NA,NA
chr15,23686068,23686070,CTC,-,P342989_F,GOLGA6L2,In_Frame_Del,NM_001304388,exon8,c.1552_1554del,p.E518del,DEL,SNVindel,exonic,GOLGA6L2,NA,nonframeshift deletion,GOLGA6L2:NM_001304388:exon8:c.1552_1554del:p.E518del,NA,NA,NA,NA,NA,NA
chr18,30913143,30913143,T,-,P342989_F,CCDC178,Frame_Shift_Del,NM_001105528,exon10,c.874delA,p.M292Wfs*3,SNP,SNVindel,exonic,CCDC178,NA,frameshift deletion,"CCDC178:NM_001105528:exon10:c.874delA:p.M292Wfs*3,CCDC178:NM_001308126:exon10:c.874delA:p.M292Wfs*3,CCDC178:NM_001371120:exon10:c.874delA:p.M292Wfs*3,CCDC178:NM_001371121:exon10:c.874delA:p.M292Wfs*3,CCDC178:NM_198995:exon10:c.874delA:p.M292Wfs*3",NA,NA,NA,NA,NA,NA
chr22,20918817,20918819,CAG,-,P342989_F,MED15,In_Frame_Del,NM_001293236,exon5,c.319_321del,p.Q117del,DEL,SNVindel,exonic,MED15,NA,nonframeshift deletion,"MED15:NM_001293236:exon5:c.319_321del:p.Q117del,MED15:NM_001003891:exon6:c.532_534del:p.Q188del,MED15:NM_001293234:exon6:c.532_534del:p.Q188del,MED15:NM_001293235:exon6:c.454_456del:p.Q162del,MED15:NM_001293237:exon6:c.454_456del:p.Q162del,MED15:NM_015889:exon6:c.532_534del:p.Q188del",NA,NA,NA,NA,NA,NA
chrX,53111759,53111761,CCG,-,P342989_F,TSPYL2,In_Frame_Del,NM_022117,exon1,c.79_81del,p.P33del,DEL,SNVindel,exonic,TSPYL2,NA,nonframeshift deletion,TSPYL2:NM_022117:exon1:c.79_81del:p.P33del,NA,NA,NA,NA,NA,NA
chrX,68725179,68725181,CTG,-,P342989_F,FAM155B,In_Frame_Del,NM_015686,exon1,c.54_56del,p.C24del,DEL,SNVindel,exonic,FAM155B,NA,nonframeshift deletion,FAM155B:NM_015686:exon1:c.54_56del:p.C24del,NA,NA,NA,NA,NA,NA
chrX,76909631,76909635,CTTTT,-,P342989_F,ATRX,Frame_Shift_Del,NM_138270,exon13,c.4156_4160del,p.K1386Afs*4,DEL,SNVindel,exonic,ATRX,NA,frameshift deletion,"ATRX:NM_138270:exon13:c.4156_4160del:p.K1386Afs*4,ATRX:NM_000489:exon14:c.4270_4274del:p.K1424Afs*4",NA,NA,NA,NA,NA,NA
chr1,2560819,2560821,CAG,-,P342989_S,MMEL1,In_Frame_Del,NM_033467,exon2,c.103_105del,p.L35del,DEL,SNVindel,exonic,MMEL1,NA,nonframeshift deletion,MMEL1:NM_033467:exon2:c.103_105del:p.L35del,NA,NA,NA,NA,NA,NA
chr1,46184897,46184898,AC,-,P342989_S,IPP,Frame_Shift_Del,NM_001145349,exon6,c.1163_1164del,p.C388Lfs*14,DEL,SNVindel,exonic,IPP,NA,frameshift deletion,"IPP:NM_001145349:exon6:c.1163_1164del:p.C388Lfs*14,IPP:NM_005897:exon6:c.1163_1164del:p.C388Lfs*14",NA,NA,NA,NA,NA,NA
chr1,155307999,155307999,-,T,P342989_S,ASH1L,Frame_Shift_Ins,NM_001366177,exon27,c.8698dupA,p.T2900Nfs*5,SNP,SNVindel,exonic,ASH1L,NA,frameshift insertion,"ASH1L:NM_001366177:exon27:c.8698dupA:p.T2900Nfs*5,ASH1L:NM_018489:exon27:c.8683dupA:p.T2895Nfs*5",NA,NA,NA,NA,NA,NA
chr7,139094365,139094366,AG,-,P342989_S,FMC1-LUC7L2,Frame_Shift_Del,NM_016019,exon7,c.744_745del,p.E253Rfs*34,DEL,SNVindel,exonic,FMC1-LUC7L2;LUC7L2,NA,frameshift deletion,"LUC7L2:NM_016019:exon7:c.744_745del:p.E253Rfs*34,FMC1-LUC7L2:NM_001244584:exon8:c.942_943del:p.E319Rfs*34,LUC7L2:NM_001244585:exon8:c.735_736del:p.E250Rfs*34,LUC7L2:NM_001270643:exon8:c.741_742del:p.E252Rfs*34",NA,NA,NA,NA,NA,NA
chr10,47658541,47658543,CTG,-,P342989_S,ANTXRL,In_Frame_Del,NM_001278688,exon1,c.43_45del,p.L20del,DEL,SNVindel,exonic,ANTXRL,NA,nonframeshift deletion,ANTXRL:NM_001278688:exon1:c.43_45del:p.L20del,NA,NA,NA,NA,NA,NA
chr11,1478186,1478186,-,C,P342989_S,BRSK2,Frame_Shift_Ins,NM_001256629,exon19,c.1942dupC,p.P651Tfs*12,SNP,SNVindel,exonic,BRSK2,NA,frameshift insertion,"BRSK2:NM_001256629:exon19:c.1942dupC:p.P651Tfs*12,BRSK2:NM_001282218:exon19:c.1762dupC:p.P591Tfs*12",NA,NA,NA,NA,NA,NA
chr12,125465270,125465272,CTC,-,P342989_S,DHX37,In_Frame_Del,NM_032656,exon4,c.502_504del,p.E168del,DEL,SNVindel,exonic,DHX37,NA,nonframeshift deletion,DHX37:NM_032656:exon4:c.502_504del:p.E168del,NA,NA,NA,NA,NA,NA
chr15,52708370,52708370,T,-,P342989_S,MYO5A,Frame_Shift_Del,NM_000259,exon5,c.584delA,p.K195Rfs*45,SNP,SNVindel,exonic,MYO5A,NA,frameshift deletion,"MYO5A:NM_000259:exon5:c.584delA:p.K195Rfs*45,MYO5A:NM_001142495:exon5:c.584delA:p.K195Rfs*45",NA,NA,NA,NA,NA,NA
chr16,15802686,15802686,-,G,P342989_S,MYH11,Frame_Shift_Ins,NM_022844,exon41,c.5798dupC,p.Q1934Tfs*20,SNP,SNVindel,exonic,MYH11,NA,frameshift insertion,"MYH11:NM_022844:exon41:c.5798dupC:p.Q1934Tfs*20,MYH11:NM_001040113:exon42:c.5819dupC:p.Q1941Tfs*20",NA,NA,NA,NA,NA,NA
chr19,38899502,38899504,AAG,-,P342989_S,FAM98C,In_Frame_Del,NM_001351675,exon6,c.784_786del,p.K267del,DEL,SNVindel,exonic,FAM98C,NA,nonframeshift deletion,"FAM98C:NM_001351675:exon6:c.784_786del:p.K267del,FAM98C:NM_174905:exon8:c.1030_1032del:p.K349del",NA,NA,NA,NA,NA,NA
chr19,46299165,46299167,CCT,-,P342989_S,RSPH6A,In_Frame_Del,NM_030785,exon6,c.2114_2116del,p.E705del,DEL,SNVindel,exonic,RSPH6A,NA,nonframeshift deletion,RSPH6A:NM_030785:exon6:c.2114_2116del:p.E705del,NA,NA,NA,NA,NA,NA
chr20,23066789,23066791,AGC,-,P342989_S,CD93,In_Frame_Del,NM_012072,exon1,c.39_41del,p.L15del,DEL,SNVindel,exonic,CD93,NA,nonframeshift deletion,CD93:NM_012072:exon1:c.39_41del:p.L15del,NA,NA,NA,NA,NA,NA
chr1,230839055,230839055,A,-,P364157_F,AGT,Frame_Shift_Del,NM_000029,exon5,c.1290delT,p.F430Lfs*25,SNP,SNVindel,exonic,AGT,NA,frameshift deletion,AGT:NM_000029:exon5:c.1290delT:p.F430Lfs*25,NA,NA,NA,NA,NA,NA
chr3,167747642,167747644,CTG,-,P364157_F,GOLIM4,In_Frame_Del,NM_001308155,exon9,c.1273_1275del,p.Q425del,DEL,SNVindel,exonic,GOLIM4,NA,nonframeshift deletion,"GOLIM4:NM_001308155:exon9:c.1273_1275del:p.Q425del,GOLIM4:NM_014498:exon10:c.1357_1359del:p.Q453del",NA,NA,NA,NA,NA,NA
chr8,77775449,77775451,CCT,-,P364157_F,ZFHX4,In_Frame_Del,NM_024721,exon11,c.9499_9501del,p.P3173del,DEL,SNVindel,exonic,ZFHX4,NA,nonframeshift deletion,ZFHX4:NM_024721:exon11:c.9499_9501del:p.P3173del,NA,NA,NA,NA,NA,NA
chr8,144511970,144511970,-,GGCGGC,P364157_F,MAFA,In_Frame_Ins,NM_201589,exon1,c.606_607insGCCGCC,p.H202_H203insAA,INS,SNVindel,exonic,MAFA,NA,nonframeshift insertion,MAFA:NM_201589:exon1:c.606_607insGCCGCC:p.H202_H203insAA,NA,NA,NA,NA,NA,NA
chr10,70182520,70182520,-,A,P364157_F,DNA2,Frame_Shift_Ins,NM_001080449,exon15,c.2335dupT,p.S779Ffs*21,SNP,SNVindel,exonic,DNA2,NA,frameshift insertion,DNA2:NM_001080449:exon15:c.2335dupT:p.S779Ffs*21,NA,NA,NA,NA,NA,NA
chr17,40345560,40345562,GCA,-,P364157_F,GHDC,In_Frame_Del,NM_001142623,exon3,c.38_40del,p.L13del,DEL,SNVindel,exonic,GHDC,NA,nonframeshift deletion,"GHDC:NM_001142623:exon3:c.38_40del:p.L13del,GHDC:NM_032484:exon3:c.38_40del:p.L13del",NA,NA,NA,NA,NA,NA
chr17,46685277,46685277,T,-,P364157_F,HOXB7,Frame_Shift_Del,NM_004502,exon2,c.581delA,p.K194Rfs*48,SNP,SNVindel,exonic,HOXB7,NA,frameshift deletion,HOXB7:NM_004502:exon2:c.581delA:p.K194Rfs*48,NA,NA,NA,NA,NA,NA
chr19,1506786,1506806,GGGGCTGAGGCTCCACCCCCC,-,P364157_F,ADAMTSL5,In_Frame_Del,NM_213604,exon10,c.974_994del,p.R325_P331del,DEL,SNVindel,exonic,ADAMTSL5,NA,nonframeshift deletion,"ADAMTSL5:NM_213604:exon10:c.974_994del:p.R325_P331del,ADAMTSL5:NM_001367197:exon11:c.1004_1024del:p.R335_P341del",NA,NA,NA,NA,NA,NA
chr19,46305473,46305475,TCC,-,P364157_F,RSPH6A,In_Frame_Del,NM_030785,exon4,c.1701_1703del,p.E567del,DEL,SNVindel,exonic,RSPH6A,NA,nonframeshift deletion,RSPH6A:NM_030785:exon4:c.1701_1703del:p.E567del,NA,NA,NA,NA,NA,NA
chr1,6517242,6517244,AGG,-,P364157_S,ESPN,Frame_Shift_Del,NM_031475,exon11,c.2326delG,p.E776Rfs*71,DEL,SNVindel,exonic,ESPN,NA,frameshift deletion,"ESPN:NM_031475:exon11:c.2326delG:p.E776Rfs*71,ESPN:NM_001367473:exon12:c.2236delG:p.E746Rfs*71,ESPN:NM_001367474:exon13:c.2263delG:p.E755Rfs*71",NA,NA,NA,NA,NA,NA
chr2,120861683,120861684,AC,-,P364157_S,EPB41L5,Frame_Shift_Del,NM_001184938,exon17,c.1385_1386del,p.T463Kfs*11,DEL,SNVindel,exonic,EPB41L5,NA,frameshift deletion,"EPB41L5:NM_001184938:exon17:c.1385_1386del:p.T463Kfs*11,EPB41L5:NM_001184939:exon17:c.1385_1386del:p.T463Kfs*11,EPB41L5:NM_001330307:exon17:c.1169_1170del:p.T391Kfs*11",NA,NA,NA,NA,NA,NA
chr3,65372850,65372851,TC,-,P364157_S,MAGI1,Frame_Shift_Del,NM_001365903,exon15,c.2470_2471del,p.E824Nfs*31,DEL,SNVindel,exonic,MAGI1,NA,frameshift deletion,"MAGI1:NM_001365903:exon15:c.2470_2471del:p.E824Nfs*31,MAGI1:NM_001365904:exon15:c.2470_2471del:p.E824Nfs*31,MAGI1:NM_001365905:exon15:c.2470_2471del:p.E824Nfs*31,MAGI1:NM_004742:exon15:c.2467_2468del:p.E823Nfs*31,MAGI1:NM_015520:exon15:c.2467_2468del:p.E823Nfs*31",NA,NA,NA,NA,NA,NA
chr3,122433232,122433232,A,-,P364157_S,PARP14,Frame_Shift_Del,NM_017554,exon12,c.3956delA,p.N1322Ifs*26,SNP,SNVindel,exonic,PARP14,NA,frameshift deletion,PARP14:NM_017554:exon12:c.3956delA:p.N1322Ifs*26,NA,NA,NA,NA,NA,NA
chr4,3318169,3318169,T,-,P364157_S,RGS12,Frame_Shift_Del,NM_002926,exon2,c.272delT,p.H92Tfs*3,SNP,SNVindel,exonic,RGS12,NA,frameshift deletion,"RGS12:NM_002926:exon2:c.272delT:p.H92Tfs*3,RGS12:NM_198229:exon2:c.272delT:p.H92Tfs*3",NA,NA,NA,NA,NA,NA
chr5,139422565,139422567,GCT,-,P364157_S,NRG2,In_Frame_Del,NM_001184935,exon1,c.88_90del,p.S30del,DEL,SNVindel,exonic,NRG2,NA,nonframeshift deletion,"NRG2:NM_001184935:exon1:c.88_90del:p.S30del,NRG2:NM_004883:exon1:c.88_90del:p.S30del,NRG2:NM_013981:exon1:c.88_90del:p.S30del,NRG2:NM_013982:exon1:c.88_90del:p.S30del,NRG2:NM_013983:exon1:c.88_90del:p.S30del",NA,NA,NA,NA,NA,NA
chr6,116972742,116972742,T,-,P364157_S,ZUP1,Frame_Shift_Del,NM_001361191,exon6,c.721delA,p.R241Gfs*2,SNP,SNVindel,exonic,ZUP1,NA,frameshift deletion,"ZUP1:NM_001361191:exon6:c.721delA:p.R241Gfs*2,ZUP1:NM_001361189:exon7:c.1309delA:p.R437Gfs*2,ZUP1:NM_001361190:exon7:c.805delA:p.R269Gfs*2,ZUP1:NM_145062:exon7:c.1309delA:p.R437Gfs*2",NA,NA,NA,NA,NA,NA
chr6,168377013,168377013,-,A,P364157_S,HGC6.3,Frame_Shift_Ins,NM_001129895,exon1,c.319dupT,p.S107Ffs*37,SNP,SNVindel,exonic,HGC6.3,NA,frameshift insertion,HGC6.3:NM_001129895:exon1:c.319dupT:p.S107Ffs*37,NA,NA,NA,NA,NA,NA
chr7,100304540,100304540,C,-,P364157_S,POP7,Frame_Shift_Del,NM_005837,exon2,c.87delC,p.L30Cfs*12,SNP,SNVindel,exonic,POP7,NA,frameshift deletion,POP7:NM_005837:exon2:c.87delC:p.L30Cfs*12,NA,NA,NA,NA,NA,NA
chr9,98239930,98239933,CACC,-,P364157_S,PTCH1,Frame_Shift_Del,NM_000264,exon10,c.1399_1402del,p.G467Pfs*23,DEL,SNVindel,exonic,PTCH1,NA,frameshift deletion,"PTCH1:NM_000264:exon10:c.1399_1402del:p.G467Pfs*23,PTCH1:NM_001083602:exon10:c.1201_1204del:p.G401Pfs*23,PTCH1:NM_001083603:exon10:c.1396_1399del:p.G466Pfs*23,PTCH1:NM_001083604:exon10:c.946_949del:p.G316Pfs*23,PTCH1:NM_001083605:exon10:c.946_949del:p.G316Pfs*23,PTCH1:NM_001083606:exon10:c.946_949del:p.G316Pfs*23,PTCH1:NM_001083607:exon10:c.946_949del:p.G316Pfs*23",NA,NA,NA,NA,NA,NA
chr10,89720799,89720802,TACT,-,P364157_S,PTEN,Nonsense_Mutation,NM_000314,exon8,c.950_953del,p.T319*,DEL,SNVindel,exonic,PTEN,NA,stopgain,"PTEN:NM_000314:exon8:c.950_953del:p.T319*,PTEN:NM_001304718:exon8:c.359_362del:p.T122*,PTEN:NM_001304717:exon9:c.1469_1472del:p.T492*",NA,NA,NA,NA,NA,NA
chr10,99416715,99416723,CATCATCCG,-,P364157_S,PI4K2A,In_Frame_Del,NM_018425,exon4,c.906_914del,p.I303_R305del,DEL,SNVindel,exonic,PI4K2A,NA,nonframeshift deletion,PI4K2A:NM_018425:exon4:c.906_914del:p.I303_R305del,NA,NA,NA,NA,NA,NA
chr10,120789669,120789669,G,-,P364157_S,NANOS1,Frame_Shift_Del,NM_199461,exon1,c.356delG,p.G120Afs*32,SNP,SNVindel,exonic,NANOS1,NA,frameshift deletion,NANOS1:NM_199461:exon1:c.356delG:p.G120Afs*32,NA,NA,NA,NA,NA,NA
chr15,86312151,86312156,TAGCGT,-,P364157_S,KLHL25,In_Frame_Del,NM_022480,exon2,c.886_891del,p.T296_L297del,DEL,SNVindel,exonic,KLHL25,NA,nonframeshift deletion,KLHL25:NM_022480:exon2:c.886_891del:p.T296_L297del,NA,NA,NA,NA,NA,NA
chr17,7579345,7579345,-,A,P364157_S,TP53,Frame_Shift_Ins,NM_001126118,exon3,c.224dupT,p.L75Ffs*35,SNP,SNVindel,exonic,TP53,NA,frameshift insertion,"TP53:NM_001126118:exon3:c.224dupT:p.L75Ffs*35,TP53:NM_000546:exon4:c.341dupT:p.L114Ffs*35,TP53:NM_001126112:exon4:c.341dupT:p.L114Ffs*35,TP53:NM_001126113:exon4:c.341dupT:p.L114Ffs*35,TP53:NM_001126114:exon4:c.341dupT:p.L114Ffs*35,TP53:NM_001276695:exon4:c.224dupT:p.L75Ffs*35,TP53:NM_001276696:exon4:c.224dupT:p.L75Ffs*35,TP53:NM_001276760:exon4:c.224dupT:p.L75Ffs*35,TP53:NM_001276761:exon4:c.224dupT:p.L75Ffs*35",NA,NA,NA,NA,NA,NA
chr17,16340130,16340130,C,-,P364157_S,TRPV2,Frame_Shift_Del,NM_016113,exon15,c.2222delC,p.P742Lfs*61,SNP,SNVindel,exonic,TRPV2,NA,frameshift deletion,TRPV2:NM_016113:exon15:c.2222delC:p.P742Lfs*61,NA,NA,NA,NA,NA,NA
chr17,46805519,46805539,ACGTCCAGGTAACTGGCCATA,-,P364157_S,HOXB13,In_Frame_Del,NM_006361,exon1,c.417_437del,p.M140_V146del,DEL,SNVindel,exonic,HOXB13,NA,nonframeshift deletion,HOXB13:NM_006361:exon1:c.417_437del:p.M140_V146del,NA,NA,NA,NA,NA,NA
chr19,49926531,49926533,CAG,-,P364157_S,PTH2,In_Frame_Del,NM_178449,exon1,c.64_66del,p.L22del,DEL,SNVindel,exonic,PTH2,NA,nonframeshift deletion,PTH2:NM_178449:exon1:c.64_66del:p.L22del,NA,NA,NA,NA,NA,NA
chr19,55324675,55324675,A,-,P364157_S,KIR2DL4,Frame_Shift_Del,NM_001080772,exon6,c.802delA,p.M271Cfs*20,SNP,SNVindel,exonic,KIR2DL4;LOC112268354,NA,frameshift deletion,KIR2DL4:NM_001080772:exon6:c.802delA:p.M271Cfs*20,NA,NA,NA,NA,NA,NA
chr20,30789968,30789968,A,-,P364157_S,PLAGL2,Frame_Shift_Del,NM_002657,exon2,c.14delT,p.F5Sfs*21,SNP,SNVindel,exonic,PLAGL2,NA,frameshift deletion,PLAGL2:NM_002657:exon2:c.14delT:p.F5Sfs*21,NA,NA,NA,NA,NA,NA
chr5,137801684,137801686,CAG,-,P376588_F,EGR1,In_Frame_Del,NM_001964,exon1,c.234_236del,p.S84del,DEL,SNVindel,exonic,EGR1,NA,nonframeshift deletion,EGR1:NM_001964:exon1:c.234_236del:p.S84del,NA,NA,NA,NA,NA,NA
chr5,179192897,179192902,ATTAAT,-,P376588_F,MAML1,In_Frame_Del,NM_014757,exon2,c.886_891del,p.N297_I298del,DEL,SNVindel,exonic,MAML1,NA,nonframeshift deletion,MAML1:NM_014757:exon2:c.886_891del:p.N297_I298del,NA,NA,NA,NA,NA,NA
chr6,1612142,1612144,GCG,-,P376588_F,FOXC1,In_Frame_Del,NM_001453,exon1,c.1462_1464del,p.A495del,DEL,SNVindel,exonic,FOXC1,NA,nonframeshift deletion,FOXC1:NM_001453:exon1:c.1462_1464del:p.A495del,NA,NA,NA,NA,NA,NA
chr6,161560589,161560589,G,-,P376588_F,AGPAT4,Frame_Shift_Del,NM_020133,exon8,c.907delC,p.R303Gfs*7,SNP,SNVindel,exonic,AGPAT4,NA,frameshift deletion,AGPAT4:NM_020133:exon8:c.907delC:p.R303Gfs*7,NA,NA,NA,NA,NA,NA
chr7,39379288,39379290,CAG,-,P376588_F,POU6F2,In_Frame_Del,NM_001370959,exon5,c.646_648del,p.Q225del,DEL,SNVindel,exonic,POU6F2,NA,nonframeshift deletion,"POU6F2:NM_001370959:exon5:c.646_648del:p.Q225del,POU6F2:NM_001166018:exon6:c.559_561del:p.Q196del,POU6F2:NM_007252:exon6:c.559_561del:p.Q196del",NA,NA,NA,NA,NA,NA
chr7,87074281,87074281,-,A,P376588_F,ABCB4,Frame_Shift_Ins,NM_000443,exon10,c.1015dupT,p.S339Ffs*17,SNP,SNVindel,exonic,ABCB4,NA,frameshift insertion,"ABCB4:NM_000443:exon10:c.1015dupT:p.S339Ffs*17,ABCB4:NM_018849:exon10:c.1015dupT:p.S339Ffs*17,ABCB4:NM_018850:exon10:c.1015dupT:p.S339Ffs*17",NA,NA,NA,NA,NA,NA
chr7,154760670,154760672,TGC,-,P376588_F,PAXIP1,In_Frame_Del,NM_007349,exon7,c.1239_1241del,p.Q413del,DEL,SNVindel,exonic,PAXIP1,NA,nonframeshift deletion,PAXIP1:NM_007349:exon7:c.1239_1241del:p.Q413del,NA,NA,NA,NA,NA,NA
chr8,38285914,38285916,TCA,-,P376588_F,FGFR1,In_Frame_Del,NM_001174066,exon3,c.129_131del,p.D44del,DEL,SNVindel,exonic,FGFR1,NA,nonframeshift deletion,"FGFR1:NM_001174066:exon3:c.129_131del:p.D44del,FGFR1:NM_001354368:exon3:c.129_131del:p.D44del,FGFR1:NM_001354370:exon3:c.129_131del:p.D44del,FGFR1:NM_023105:exon3:c.129_131del:p.D44del,FGFR1:NM_023106:exon3:c.129_131del:p.D44del,FGFR1:NM_001174063:exon4:c.396_398del:p.D133del,FGFR1:NM_001174065:exon4:c.396_398del:p.D133del,FGFR1:NM_001354367:exon4:c.396_398del:p.D133del,FGFR1:NM_001354369:exon4:c.396_398del:p.D133del,FGFR1:NM_015850:exon4:c.396_398del:p.D133del,FGFR1:NM_023110:exon4:c.396_398del:p.D133del,FGFR1:NM_001174064:exon5:c.372_374del:p.D125del,FGFR1:NM_001174067:exon5:c.495_497del:p.D166del",NA,NA,NA,NA,NA,NA
chr9,115940969,115940972,CTTT,-,P376588_F,FKBP15,Frame_Shift_Del,NM_015258,exon20,c.2024_2027del,p.E675Afs*2,DEL,SNVindel,exonic,FKBP15,NA,frameshift deletion,FKBP15:NM_015258:exon20:c.2024_2027del:p.E675Afs*2,NA,NA,NA,NA,NA,NA
chr9,126139182,126139184,CCT,-,P376588_F,CRB2,In_Frame_Del,NM_173689,exon13,c.3699_3701del,p.L1239del,DEL,SNVindel,exonic,CRB2,NA,nonframeshift deletion,CRB2:NM_173689:exon13:c.3699_3701del:p.L1239del,NA,NA,NA,NA,NA,NA
chr11,65146991,65146991,G,-,P376588_F,SLC25A45,Frame_Shift_Del,NM_001278250,exon3,c.123delC,p.S41Rfs*2,SNP,SNVindel,exonic,SLC25A45,NA,frameshift deletion,"SLC25A45:NM_001278250:exon3:c.123delC:p.S41Rfs*2,SLC25A45:NM_001077241:exon4:c.69delC:p.S23Rfs*2,SLC25A45:NM_001352381:exon4:c.195delC:p.S65Rfs*2,SLC25A45:NM_001352382:exon5:c.69delC:p.S23Rfs*2,SLC25A45:NM_182556:exon5:c.195delC:p.S65Rfs*2,SLC25A45:NM_001278251:exon8:c.69delC:p.S23Rfs*2",NA,NA,NA,NA,NA,NA
chr11,67262953,67262953,G,-,P376588_F,PITPNM1,Frame_Shift_Del,NM_001130848,exon16,c.2435delC,p.P812Rfs*66,SNP,SNVindel,exonic,PITPNM1,NA,frameshift deletion,"PITPNM1:NM_001130848:exon16:c.2435delC:p.P812Rfs*66,PITPNM1:NM_004910:exon16:c.2438delC:p.P813Rfs*66",NA,NA,NA,NA,NA,NA
chr11,77784147,77784147,A,-,P376588_F,NDUFC2,Frame_Shift_Del,NM_001203260,exon2,c.207delT,p.F69Lfs*7,SNP,SNVindel,exonic,NDUFC2;NDUFC2-KCTD14,NA,frameshift deletion,"NDUFC2-KCTD14:NM_001203260:exon2:c.207delT:p.F69Lfs*7,NDUFC2-KCTD14:NM_001203261:exon2:c.207delT:p.F69Lfs*7,NDUFC2:NM_001204054:exon2:c.207delT:p.F69Lfs*7,NDUFC2:NM_004549:exon2:c.207delT:p.F69Lfs*7",NA,NA,NA,NA,NA,NA
chr12,6649704,6649706,GGC,-,P376588_F,IFFO1,In_Frame_Del,NM_001330324,exon9,c.1623_1625del,p.P542del,DEL,SNVindel,exonic,IFFO1,NA,nonframeshift deletion,"IFFO1:NM_001330324:exon9:c.1623_1625del:p.P542del,IFFO1:NM_001039670:exon10:c.1635_1637del:p.P546del,IFFO1:NM_001193457:exon10:c.1659_1661del:p.P554del,IFFO1:NM_001330325:exon10:c.1629_1631del:p.P544del,IFFO1:NM_080730:exon10:c.1632_1634del:p.P545del",NA,NA,NA,NA,NA,NA
chr16,4796953,4796955,GAG,-,P376588_F,C16orf71,In_Frame_Del,NM_139170,exon8,c.1207_1209del,p.E409del,DEL,SNVindel,exonic,C16orf71,NA,nonframeshift deletion,C16orf71:NM_139170:exon8:c.1207_1209del:p.E409del,NA,NA,NA,NA,NA,NA
chr17,40345560,40345562,GCA,-,P376588_F,GHDC,In_Frame_Del,NM_001142623,exon3,c.38_40del,p.L13del,DEL,SNVindel,exonic,GHDC,NA,nonframeshift deletion,"GHDC:NM_001142623:exon3:c.38_40del:p.L13del,GHDC:NM_032484:exon3:c.38_40del:p.L13del",NA,NA,NA,NA,NA,NA
chr19,17439422,17439424,TCC,-,P376588_F,ANO8,In_Frame_Del,NM_020959,exon13,c.1773_1775del,p.E591del,DEL,SNVindel,exonic,ANO8,NA,nonframeshift deletion,ANO8:NM_020959:exon13:c.1773_1775del:p.E591del,NA,NA,NA,NA,NA,NA
chr19,18284687,18284689,GCT,-,P376588_F,IFI30,In_Frame_Del,NM_006332,exon1,c.36_38del,p.L17del,DEL,SNVindel,exonic,IFI30,NA,nonframeshift deletion,IFI30:NM_006332:exon1:c.36_38del:p.L17del,NA,NA,NA,NA,NA,NA
chr19,49920666,49920668,CTG,-,P376588_F,CCDC155,In_Frame_Del,NM_144688,exon20,c.1588_1590del,p.L536del,DEL,SNVindel,exonic,CCDC155,NA,nonframeshift deletion,CCDC155:NM_144688:exon20:c.1588_1590del:p.L536del,NA,NA,NA,NA,NA,NA
chr20,62292822,62292824,GCT,-,P376588_F,RTEL1,In_Frame_Del,NM_001283009,exon3,c.274_276del,p.A96del,DEL,SNVindel,exonic,RTEL1,NA,nonframeshift deletion,"RTEL1:NM_001283009:exon3:c.274_276del:p.A96del,RTEL1:NM_016434:exon3:c.274_276del:p.A96del,RTEL1:NM_032957:exon3:c.274_276del:p.A96del",NA,NA,NA,NA,NA,NA
chr1,44447007,44447009,AGC,-,P376588_S,B4GALT2,In_Frame_Del,NM_001005417,exon2,c.175_177del,p.S65del,DEL,SNVindel,exonic,B4GALT2,NA,nonframeshift deletion,"B4GALT2:NM_001005417:exon2:c.175_177del:p.S65del,B4GALT2:NM_003780:exon2:c.175_177del:p.S65del,B4GALT2:NM_030587:exon2:c.262_264del:p.S94del",NA,NA,NA,NA,NA,NA
chr2,5833526,5833528,GAC,-,P376588_S,SOX11,In_Frame_Del,NM_003108,exon1,c.673_675del,p.D233del,DEL,SNVindel,exonic,SOX11,NA,nonframeshift deletion,SOX11:NM_003108:exon1:c.673_675del:p.D233del,NA,NA,NA,NA,NA,NA
chr2,170665008,170665008,A,-,P376588_S,SSB,Frame_Shift_Del,NM_001294145,exon7,c.571delA,p.N193Mfs*13,SNP,SNVindel,exonic,SSB,NA,frameshift deletion,"SSB:NM_001294145:exon7:c.571delA:p.N193Mfs*13,SSB:NM_003142:exon7:c.571delA:p.N193Mfs*13",NA,NA,NA,NA,NA,NA
chr6,1611463,1611465,CAG,-,P376588_S,FOXC1,In_Frame_Del,NM_001453,exon1,c.783_785del,p.S266del,DEL,SNVindel,exonic,FOXC1,NA,nonframeshift deletion,FOXC1:NM_001453:exon1:c.783_785del:p.S266del,NA,NA,NA,NA,NA,NA
chr8,37555934,37555936,CGC,-,P376588_S,ZNF703,In_Frame_Del,NM_025069,exon2,c.1515_1517del,p.A514del,DEL,SNVindel,exonic,ZNF703,NA,nonframeshift deletion,ZNF703:NM_025069:exon2:c.1515_1517del:p.A514del,NA,NA,NA,NA,NA,NA
chr10,129902204,129902205,TG,-,P376588_S,MKI67,Frame_Shift_Del,NM_001145966,exon12,c.6819_6820del,p.H2273Qfs*7,DEL,SNVindel,exonic,MKI67,NA,frameshift deletion,"MKI67:NM_001145966:exon12:c.6819_6820del:p.H2273Qfs*7,MKI67:NM_002417:exon13:c.7899_7900del:p.H2633Qfs*7",NA,NA,NA,NA,NA,NA
chr11,63449183,63449185,CGG,-,P376588_S,RTN3,In_Frame_Del,NM_001265589,exon1,c.75_77del,p.G29del,DEL,SNVindel,exonic,RTN3,NA,nonframeshift deletion,"RTN3:NM_001265589:exon1:c.75_77del:p.G29del,RTN3:NM_001265590:exon1:c.75_77del:p.G29del,RTN3:NM_001265591:exon1:c.75_77del:p.G29del,RTN3:NM_006054:exon1:c.75_77del:p.G29del,RTN3:NM_201428:exon1:c.75_77del:p.G29del,RTN3:NM_201429:exon1:c.75_77del:p.G29del,RTN3:NM_201430:exon1:c.75_77del:p.G29del",NA,NA,NA,NA,NA,NA
chr11,65146991,65146991,G,-,P376588_S,SLC25A45,Frame_Shift_Del,NM_001278250,exon3,c.123delC,p.S41Rfs*2,SNP,SNVindel,exonic,SLC25A45,NA,frameshift deletion,"SLC25A45:NM_001278250:exon3:c.123delC:p.S41Rfs*2,SLC25A45:NM_001077241:exon4:c.69delC:p.S23Rfs*2,SLC25A45:NM_001352381:exon4:c.195delC:p.S65Rfs*2,SLC25A45:NM_001352382:exon5:c.69delC:p.S23Rfs*2,SLC25A45:NM_182556:exon5:c.195delC:p.S65Rfs*2,SLC25A45:NM_001278251:exon8:c.69delC:p.S23Rfs*2",NA,NA,NA,NA,NA,NA
chr17,26653807,26653807,A,-,P376588_S,TMEM97,Frame_Shift_Del,NM_014573,exon3,c.519delA,p.K176Nfs*188,SNP,SNVindel,exonic,TMEM97,NA,frameshift deletion,TMEM97:NM_014573:exon3:c.519delA:p.K176Nfs*188,NA,NA,NA,NA,NA,NA
chr17,27620932,27620934,TGG,-,P376588_S,NUFIP2,In_Frame_Del,NM_020772,exon1,c.144_146del,p.H51del,DEL,SNVindel,exonic,NUFIP2,NA,nonframeshift deletion,NUFIP2:NM_020772:exon1:c.144_146del:p.H51del,NA,NA,NA,NA,NA,NA
chr17,73702109,73702109,A,-,P376588_S,SAP30BP,Frame_Shift_Del,NM_001301839,exon9,c.634delA,p.G214Afs*34,SNP,SNVindel,exonic,SAP30BP,NA,frameshift deletion,"SAP30BP:NM_001301839:exon9:c.634delA:p.G214Afs*34,SAP30BP:NM_013260:exon10:c.682delA:p.G230Afs*34,SAP30BP:NM_001301855:exon11:c.784delA:p.G264Afs*34",NA,NA,NA,NA,NA,NA
chr19,39913474,39913476,GAG,-,P376588_S,PLEKHG2,In_Frame_Del,NM_001351693,exon18,c.1603_1605del,p.E541del,DEL,SNVindel,exonic,PLEKHG2,NA,nonframeshift deletion,"PLEKHG2:NM_001351693:exon18:c.1603_1605del:p.E541del,PLEKHG2:NM_022835:exon18:c.1780_1782del:p.E600del",NA,NA,NA,NA,NA,NA
chr19,46299147,46299149,CCT,-,P376588_S,RSPH6A,In_Frame_Del,NM_030785,exon6,c.2132_2134del,p.E711del,DEL,SNVindel,exonic,RSPH6A,NA,nonframeshift deletion,RSPH6A:NM_030785:exon6:c.2132_2134del:p.E711del,NA,NA,NA,NA,NA,NA
chr1,44447007,44447009,AGC,-,P379846_F,B4GALT2,In_Frame_Del,NM_001005417,exon2,c.175_177del,p.S65del,DEL,SNVindel,exonic,B4GALT2,NA,nonframeshift deletion,"B4GALT2:NM_001005417:exon2:c.175_177del:p.S65del,B4GALT2:NM_003780:exon2:c.175_177del:p.S65del,B4GALT2:NM_030587:exon2:c.262_264del:p.S94del",NA,NA,NA,NA,NA,NA
chr1,89449509,89449509,T,-,P379846_F,RBMXL1,Translation_Start_Site,NM_019610,exon2,c.1delA,p.M1?,SNP,SNVindel,exonic,RBMXL1,NA,startloss,"RBMXL1:NM_019610:exon2:c.1delA:p.M1?,RBMXL1:NM_001162536:exon3:c.1delA:p.M1?",NA,NA,NA,NA,NA,NA
chr7,21582969,21582971,GAG,-,P379846_F,DNAH11,In_Frame_Del,NM_001277115,exon1,c.106_108del,p.E40del,DEL,SNVindel,exonic,DNAH11,NA,nonframeshift deletion,DNAH11:NM_001277115:exon1:c.106_108del:p.E40del,NA,NA,NA,NA,NA,NA
chr9,139981569,139981571,CCG,-,P379846_F,MAN1B1,In_Frame_Del,NM_016219,exon1,c.118_120del,p.P45del,DEL,SNVindel,exonic,MAN1B1,NA,nonframeshift deletion,MAN1B1:NM_016219:exon1:c.118_120del:p.P45del,NA,NA,NA,NA,NA,NA
chr14,96783571,96783571,-,T,P379846_F,ATG2B,Frame_Shift_Ins,NM_018036,exon20,c.3120dupA,p.L1041Ifs*19,SNP,SNVindel,exonic,ATG2B,NA,frameshift insertion,ATG2B:NM_018036:exon20:c.3120dupA:p.L1041Ifs*19,NA,NA,NA,NA,NA,NA
chr16,51175656,51175658,GCT,-,P379846_F,SALL1,In_Frame_Del,NM_001127892,exon2,c.184_186del,p.S62del,DEL,SNVindel,exonic,SALL1,NA,nonframeshift deletion,"SALL1:NM_001127892:exon2:c.184_186del:p.S62del,SALL1:NM_002968:exon2:c.475_477del:p.S159del",NA,NA,NA,NA,NA,NA
chr19,643528,643528,G,-,P379846_F,FGF22,Frame_Shift_Del,NM_001300812,exon3,c.414delG,p.A141Pfs*23,SNP,SNVindel,exonic,FGF22,NA,frameshift deletion,"FGF22:NM_001300812:exon3:c.414delG:p.A141Pfs*23,FGF22:NM_020637:exon3:c.437delG:p.R150Gfs*21",NA,NA,NA,NA,NA,NA
chr19,39401252,39401254,TGG,-,P379846_F,CCER2,In_Frame_Del,NM_001243212,exon4,c.660_662del,p.H220del,DEL,SNVindel,exonic,CCER2,NA,nonframeshift deletion,CCER2:NM_001243212:exon4:c.660_662del:p.H220del,NA,NA,NA,NA,NA,NA
chr19,43969653,43969655,AGC,-,P379846_F,LYPD3,In_Frame_Del,NM_014400,exon1,c.69_71del,p.L24del,DEL,SNVindel,exonic,LYPD3,NA,nonframeshift deletion,LYPD3:NM_014400:exon1:c.69_71del:p.L24del,NA,NA,NA,NA,NA,NA
chr20,48467300,48467300,-,T,P379846_F,SLC9A8,Frame_Shift_Ins,NM_001260491,exon7,c.537dupT,p.V183Cfs*14,SNP,SNVindel,exonic,SLC9A8,NA,frameshift insertion,SLC9A8:NM_001260491:exon7:c.537dupT:p.V183Cfs*14,NA,NA,NA,NA,NA,NA
chr1,6529183,6529185,TCC,-,P379846_S,PLEKHG5,In_Frame_Del,NM_001042664,exon19,c.2166_2168del,p.E723del,DEL,SNVindel,exonic,PLEKHG5,NA,nonframeshift deletion,"PLEKHG5:NM_001042664:exon19:c.2166_2168del:p.E723del,PLEKHG5:NM_001042665:exon19:c.2166_2168del:p.E723del,PLEKHG5:NM_001265593:exon19:c.2373_2375del:p.E792del,PLEKHG5:NM_001265594:exon19:c.2166_2168del:p.E723del,PLEKHG5:NM_020631:exon19:c.2166_2168del:p.E723del,PLEKHG5:NM_001042663:exon20:c.2334_2336del:p.E779del,PLEKHG5:NM_001265592:exon20:c.2403_2405del:p.E802del,PLEKHG5:NM_198681:exon20:c.2397_2399del:p.E800del",NA,NA,NA,NA,NA,NA
chr1,85331664,85331664,-,A,P379846_S,LPAR3,Frame_Shift_Ins,NM_012152,exon2,c.139dupT,p.S47Ffs*2,SNP,SNVindel,exonic,LPAR3,NA,frameshift insertion,LPAR3:NM_012152:exon2:c.139dupT:p.S47Ffs*2,NA,NA,NA,NA,NA,NA
chr1,240072443,240072443,-,A,P379846_S,CHRM3,Frame_Shift_Ins,NM_000740,exon5,c.1693dupA,p.R568Efs*26,SNP,SNVindel,exonic,CHRM3,NA,frameshift insertion,"CHRM3:NM_000740:exon5:c.1693dupA:p.R568Efs*26,CHRM3:NM_001347716:exon8:c.1693dupA:p.R568Efs*26",NA,NA,NA,NA,NA,NA
chr2,67624746,67624750,GTGCG,-,P379846_S,ETAA1,Frame_Shift_Del,NM_019002,exon1,c.166_170del,p.V56Afs*13,DEL,SNVindel,exonic,ETAA1,NA,frameshift deletion,ETAA1:NM_019002:exon1:c.166_170del:p.V56Afs*13,NA,NA,NA,NA,NA,NA
chr2,121995247,121995249,GAA,-,P379846_S,TFCP2L1,In_Frame_Del,NM_014553,exon10,c.953_955del,p.L318del,DEL,SNVindel,exonic,TFCP2L1,NA,nonframeshift deletion,TFCP2L1:NM_014553:exon10:c.953_955del:p.L318del,NA,NA,NA,NA,NA,NA
chr2,160918876,160918878,CAG,-,P379846_S,PLA2R1,In_Frame_Del,NM_001007267,exon1,c.37_39del,p.L13del,DEL,SNVindel,exonic,PLA2R1,NA,nonframeshift deletion,"PLA2R1:NM_001007267:exon1:c.37_39del:p.L13del,PLA2R1:NM_001195641:exon1:c.37_39del:p.L13del,PLA2R1:NM_007366:exon1:c.37_39del:p.L13del",NA,NA,NA,NA,NA,NA
chr3,27763406,27763408,GCG,-,P379846_S,EOMES,In_Frame_Del,NM_001278182,exon1,c.378_380del,p.A130del,DEL,SNVindel,exonic,EOMES,NA,nonframeshift deletion,"EOMES:NM_001278182:exon1:c.378_380del:p.A130del,EOMES:NM_005442:exon1:c.378_380del:p.A130del",NA,NA,NA,NA,NA,NA
chr3,100467172,100467173,TC,-,P379846_S,TFG,Frame_Shift_Del,NM_001007565,exon8,c.1000_1001del,p.Q335Afs*3,DEL,SNVindel,exonic,TFG,NA,frameshift deletion,"TFG:NM_001007565:exon8:c.1000_1001del:p.Q335Afs*3,TFG:NM_001195478:exon8:c.1000_1001del:p.Q335Afs*3,TFG:NM_001195479:exon8:c.988_989del:p.Q331Afs*3,TFG:NM_006070:exon8:c.1000_1001del:p.Q335Afs*3",NA,NA,NA,NA,NA,NA
chr4,15995680,15995680,T,-,P379846_S,PROM1,Frame_Shift_Del,NM_001145851,exon14,c.1670delA,p.N557Ifs*29,SNP,SNVindel,exonic,PROM1,NA,frameshift deletion,"PROM1:NM_001145851:exon14:c.1670delA:p.N557Ifs*29,PROM1:NM_001145847:exon15:c.1670delA:p.N557Ifs*29,PROM1:NM_001145848:exon15:c.1670delA:p.N557Ifs*29,PROM1:NM_001145849:exon15:c.1697delA:p.N566Ifs*29,PROM1:NM_001145852:exon15:c.1670delA:p.N557Ifs*29,PROM1:NM_001371406:exon15:c.1670delA:p.N557Ifs*29,PROM1:NM_001371407:exon15:c.1670delA:p.N557Ifs*29,PROM1:NM_001371408:exon15:c.1670delA:p.N557Ifs*29,PROM1:NM_001145850:exon16:c.1697delA:p.N566Ifs*29,PROM1:NM_006017:exon16:c.1697delA:p.N566Ifs*29",NA,NA,NA,NA,NA,NA
chr5,131931452,131931452,A,-,P379846_S,RAD50,Frame_Shift_Del,NM_005732,exon13,c.2157delA,p.K722Rfs*14,SNP,SNVindel,exonic,RAD50,NA,frameshift deletion,RAD50:NM_005732:exon13:c.2157delA:p.K722Rfs*14,NA,NA,NA,NA,NA,NA
chr5,140754287,140754287,A,-,P379846_S,PCDHGA6,Frame_Shift_Del,NM_018919,exon1,c.637delA,p.T213Lfs*18,SNP,SNVindel,exonic,PCDHGA6,NA,frameshift deletion,"PCDHGA6:NM_018919:exon1:c.637delA:p.T213Lfs*18,PCDHGA6:NM_032086:exon1:c.637delA:p.T213Lfs*18",NA,NA,NA,NA,NA,NA
chr7,101892133,101892135,CAG,-,P379846_S,CUX1,In_Frame_Del,NM_001202543,exon24,c.4362_4364del,p.S1459del,DEL,SNVindel,exonic,CUX1,NA,nonframeshift deletion,"CUX1:NM_001202543:exon24:c.4362_4364del:p.S1459del,CUX1:NM_181552:exon24:c.4329_4331del:p.S1448del",NA,NA,NA,NA,NA,NA
chr13,100955235,100955235,C,-,P379846_S,PCCA,Frame_Shift_Del,NM_001352608,exon12,c.1045delC,p.P349Rfs*26,SNP,SNVindel,exonic,PCCA,NA,frameshift deletion,"PCCA:NM_001352608:exon12:c.1045delC:p.P349Rfs*26,PCCA:NM_001352612:exon12:c.178delC:p.P60Rfs*26,PCCA:NM_001127692:exon13:c.1189delC:p.P397Rfs*26,PCCA:NM_001352606:exon13:c.1123delC:p.P375Rfs*26,PCCA:NM_001352607:exon13:c.1189delC:p.P397Rfs*26,PCCA:NM_001352610:exon13:c.322delC:p.P108Rfs*26,PCCA:NM_001352611:exon13:c.322delC:p.P108Rfs*26,PCCA:NM_000282:exon14:c.1267delC:p.P423Rfs*26,PCCA:NM_001178004:exon14:c.1267delC:p.P423Rfs*26,PCCA:NM_001352605:exon14:c.1267delC:p.P423Rfs*26,PCCA:NM_001352609:exon14:c.1267delC:p.P423Rfs*26",NA,NA,NA,NA,NA,NA
chr13,108518338,108518338,C,-,P379846_S,FAM155A,Frame_Shift_Del,NM_001080396,exon1,c.607delG,p.D203Tfs*5,SNP,SNVindel,exonic,FAM155A,NA,frameshift deletion,FAM155A:NM_001080396:exon1:c.607delG:p.D203Tfs*5,NA,NA,NA,NA,NA,NA
chr15,81271633,81271633,T,-,P379846_S,MESD,Frame_Shift_Del,NM_015154,exon3,c.632delA,p.K211Rfs*6,SNP,SNVindel,exonic,MESD,NA,frameshift deletion,MESD:NM_015154:exon3:c.632delA:p.K211Rfs*6,NA,NA,NA,NA,NA,NA
chr16,51175656,51175658,GCT,-,P379846_S,SALL1,In_Frame_Del,NM_001127892,exon2,c.184_186del,p.S62del,DEL,SNVindel,exonic,SALL1,NA,nonframeshift deletion,"SALL1:NM_001127892:exon2:c.184_186del:p.S62del,SALL1:NM_002968:exon2:c.475_477del:p.S159del",NA,NA,NA,NA,NA,NA
chr16,72822564,72822566,TGC,-,P379846_S,ZFHX3,In_Frame_Del,NM_001164766,exon9,c.6867_6869del,p.Q2290del,DEL,SNVindel,exonic,ZFHX3,NA,nonframeshift deletion,"ZFHX3:NM_001164766:exon9:c.6867_6869del:p.Q2290del,ZFHX3:NM_006885:exon10:c.9609_9611del:p.Q3204del",NA,NA,NA,NA,NA,NA
chr17,7942747,7942749,TGC,-,P379846_S,ALOX15B,In_Frame_Del,NM_001039130,exon2,c.191_193del,p.L67del,DEL,SNVindel,exonic,ALOX15B,NA,nonframeshift deletion,"ALOX15B:NM_001039130:exon2:c.191_193del:p.L67del,ALOX15B:NM_001039131:exon2:c.191_193del:p.L67del,ALOX15B:NM_001141:exon2:c.191_193del:p.L67del",NA,NA,NA,NA,NA,NA
chr20,20168637,20168643,CCTCATG,-,P379846_S,CFAP61,Nonsense_Mutation,NM_015585,exon14,c.1449_1455del,p.L484*,DEL,SNVindel,exonic,CFAP61,NA,stopgain,CFAP61:NM_015585:exon14:c.1449_1455del:p.L484*,NA,NA,NA,NA,NA,NA
chr20,34320047,34320047,T,-,P379846_S,RBM39,Frame_Shift_Del,NM_001242599,exon4,c.112delA,p.S38Afs*79,SNP,SNVindel,exonic,RBM39,NA,frameshift deletion,"RBM39:NM_001242599:exon4:c.112delA:p.S38Afs*79,RBM39:NM_001242600:exon4:c.112delA:p.S38Afs*79,RBM39:NM_001323422:exon4:c.112delA:p.S38Afs*83,RBM39:NM_001323424:exon4:c.112delA:p.S38Afs*83,RBM39:NM_004902:exon4:c.112delA:p.S38Afs*83,RBM39:NM_184234:exon4:c.112delA:p.S38Afs*83",NA,NA,NA,NA,NA,NA
chr20,37555323,37555325,GCG,-,P379846_S,FAM83D,In_Frame_Del,NM_030919,exon1,c.238_240del,p.A86del,DEL,SNVindel,exonic,FAM83D,NA,nonframeshift deletion,FAM83D:NM_030919:exon1:c.238_240del:p.A86del,NA,NA,NA,NA,NA,NA
chr21,34924997,34924997,C,-,P379846_S,SON,Frame_Shift_Del,NM_001291411,exon3,c.3460delC,p.P1155Qfs*13,SNP,SNVindel,exonic,SON,NA,frameshift deletion,"SON:NM_001291411:exon3:c.3460delC:p.P1155Qfs*13,SON:NM_032195:exon3:c.3460delC:p.P1155Qfs*13,SON:NM_138927:exon3:c.3460delC:p.P1155Qfs*13",NA,NA,NA,NA,NA,NA
chr22,23653975,23653975,-,CCGG,P379846_S,BCR,Frame_Shift_Ins,NM_021574,exon18,c.3142_3143insCCGG,p.V1050Rfs*17,INS,SNVindel,exonic,BCR,NA,frameshift insertion,"BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17",NA,NA,NA,NA,NA,NA
chr22,32334105,32334105,A,-,P379846_S,C22orf24,Frame_Shift_Del,NM_001302819,exon1,c.149delT,p.F50Sfs*6,SNP,SNVindel,exonic,C22orf24,NA,frameshift deletion,"C22orf24:NM_001302819:exon1:c.149delT:p.F50Sfs*6,C22orf24:NM_001302820:exon1:c.149delT:p.F50Sfs*6",NA,NA,NA,NA,NA,NA
chrX,16850849,16850850,AG,-,P379846_S,TXLNG,Frame_Shift_Del,NM_001168683,exon4,c.572_573del,p.E195Vfs*33,DEL,SNVindel,exonic,TXLNG,NA,frameshift deletion,"TXLNG:NM_001168683:exon4:c.572_573del:p.E195Vfs*33,TXLNG:NM_018360:exon6:c.968_969del:p.E327Vfs*33",NA,NA,NA,NA,NA,NA
chr1,200842776,200842778,TGC,-,P388862_F,GPR25,In_Frame_Del,NM_005298,exon1,c.611_613del,p.L209del,DEL,SNVindel,exonic,GPR25,NA,nonframeshift deletion,GPR25:NM_005298:exon1:c.611_613del:p.L209del,NA,NA,NA,NA,NA,NA
chr1,206858676,206858678,GCC,-,P388862_F,MAPKAPK2,In_Frame_Del,NM_004759,exon1,c.102_104del,p.P40del,DEL,SNVindel,exonic,MAPKAPK2,NA,nonframeshift deletion,"MAPKAPK2:NM_004759:exon1:c.102_104del:p.P40del,MAPKAPK2:NM_032960:exon1:c.102_104del:p.P40del",NA,NA,NA,NA,NA,NA
chr2,5833526,5833528,GAC,-,P388862_F,SOX11,In_Frame_Del,NM_003108,exon1,c.673_675del,p.D233del,DEL,SNVindel,exonic,SOX11,NA,nonframeshift deletion,SOX11:NM_003108:exon1:c.673_675del:p.D233del,NA,NA,NA,NA,NA,NA
chr2,9989570,9989570,-,A,P388862_F,TAF1B,Frame_Shift_Ins,NM_005680,exon3,c.187dupA,p.N66Kfs*4,SNP,SNVindel,exonic,TAF1B,NA,frameshift insertion,TAF1B:NM_005680:exon3:c.187dupA:p.N66Kfs*4,NA,NA,NA,NA,NA,NA
chr2,48132726,48132740,GGCTGCTGCTGGGGC,-,P388862_F,FBXO11,In_Frame_Del,NM_001190274,exon1,c.120_134del,p.Q42_P46del,DEL,SNVindel,exonic,FBXO11,NA,nonframeshift deletion,FBXO11:NM_001190274:exon1:c.120_134del:p.Q42_P46del,NA,NA,NA,NA,NA,NA
chr5,138725510,138725512,CAG,-,P388862_F,MZB1,In_Frame_Del,NM_016459,exon1,c.34_36del,p.L12del,DEL,SNVindel,exonic,MZB1,NA,nonframeshift deletion,MZB1:NM_016459:exon1:c.34_36del:p.L12del,NA,NA,NA,NA,NA,NA
chr7,117188841,117188843,GTT,-,P388862_F,CFTR,In_Frame_Del,NM_000492,exon10,c.1356_1358del,p.L454del,DEL,SNVindel,exonic,CFTR,NA,nonframeshift deletion,CFTR:NM_000492:exon10:c.1356_1358del:p.L454del,NA,NA,NA,NA,NA,NA
chr9,33387044,33387044,T,-,P388862_F,AQP7,Frame_Shift_Del,NM_001318156,exon3,c.20delA,p.Y7Lfs*30,SNP,SNVindel,exonic,AQP7,NA,frameshift deletion,"AQP7:NM_001318156:exon3:c.20delA:p.Y7Lfs*30,AQP7:NM_001170:exon4:c.191delA:p.Y64Lfs*30,AQP7:NM_001318157:exon4:c.188delA:p.Y63Lfs*30,AQP7:NM_001318158:exon4:c.191delA:p.Y64Lfs*30",NA,NA,NA,NA,NA,NA
chr11,62494375,62494377,TCC,-,P388862_F,HNRNPUL2,In_Frame_Del,NM_001079559,exon1,c.252_254del,p.E84del,DEL,SNVindel,exonic,HNRNPUL2,NA,nonframeshift deletion,HNRNPUL2:NM_001079559:exon1:c.252_254del:p.E84del,NA,NA,NA,NA,NA,NA
chr11,77784147,77784147,A,-,P388862_F,NDUFC2,Frame_Shift_Del,NM_001203260,exon2,c.207delT,p.F69Lfs*7,SNP,SNVindel,exonic,NDUFC2;NDUFC2-KCTD14,NA,frameshift deletion,"NDUFC2-KCTD14:NM_001203260:exon2:c.207delT:p.F69Lfs*7,NDUFC2-KCTD14:NM_001203261:exon2:c.207delT:p.F69Lfs*7,NDUFC2:NM_001204054:exon2:c.207delT:p.F69Lfs*7,NDUFC2:NM_004549:exon2:c.207delT:p.F69Lfs*7",NA,NA,NA,NA,NA,NA
chr15,23686089,23686091,CTC,-,P388862_F,GOLGA6L2,In_Frame_Del,NM_001304388,exon8,c.1531_1533del,p.E511del,DEL,SNVindel,exonic,GOLGA6L2,NA,nonframeshift deletion,GOLGA6L2:NM_001304388:exon8:c.1531_1533del:p.E511del,NA,NA,NA,NA,NA,NA
chr16,87445610,87445612,TGG,-,P388862_F,ZCCHC14,In_Frame_Del,NM_015144,exon12,c.2304_2306del,p.H769del,DEL,SNVindel,exonic,ZCCHC14,NA,nonframeshift deletion,ZCCHC14:NM_015144:exon12:c.2304_2306del:p.H769del,NA,NA,NA,NA,NA,NA
chr19,4037775,4037777,GAG,-,P388862_F,PIAS4,In_Frame_Del,NM_015897,exon11,c.1435_1437del,p.E487del,DEL,SNVindel,exonic,PIAS4,NA,nonframeshift deletion,PIAS4:NM_015897:exon11:c.1435_1437del:p.E487del,NA,NA,NA,NA,NA,NA
chr19,17001175,17001177,CTG,-,P388862_F,F2RL3,In_Frame_Del,NM_003950,exon2,c.901_903del,p.L305del,DEL,SNVindel,exonic,F2RL3,NA,nonframeshift deletion,F2RL3:NM_003950:exon2:c.901_903del:p.L305del,NA,NA,NA,NA,NA,NA
chr19,45567607,45567609,CTC,-,P388862_F,CLASRP,In_Frame_Del,NM_001278439,exon12,c.942_944del,p.S323del,DEL,SNVindel,exonic,CLASRP,NA,nonframeshift deletion,"CLASRP:NM_001278439:exon12:c.942_944del:p.S323del,CLASRP:NM_007056:exon13:c.1128_1130del:p.S385del",NA,NA,NA,NA,NA,NA
chr1,171510662,171510662,G,-,P388862_S,PRRC2C,Frame_Shift_Del,NM_015172,exon16,c.4051delG,p.G1351Vfs*50,SNP,SNVindel,exonic,PRRC2C,NA,frameshift deletion,PRRC2C:NM_015172:exon16:c.4051delG:p.G1351Vfs*50,NA,NA,NA,NA,NA,NA
chr2,96992793,96992795,GAG,-,P388862_S,ITPRIPL1,In_Frame_Del,NM_178495,exon1,c.448_450del,p.E155del,DEL,SNVindel,exonic,ITPRIPL1,NA,nonframeshift deletion,"ITPRIPL1:NM_178495:exon1:c.448_450del:p.E155del,ITPRIPL1:NM_001163523:exon2:c.400_402del:p.E139del,ITPRIPL1:NM_001163524:exon2:c.400_402del:p.E139del,ITPRIPL1:NM_001324490:exon2:c.400_402del:p.E139del,ITPRIPL1:NM_001008949:exon3:c.424_426del:p.E147del",NA,NA,NA,NA,NA,NA
chr5,137088929,137088931,CCG,-,P388862_S,HNRNPA0,In_Frame_Del,NM_006805,exon1,c.825_827del,p.G278del,DEL,SNVindel,exonic,HNRNPA0,NA,nonframeshift deletion,HNRNPA0:NM_006805:exon1:c.825_827del:p.G278del,NA,NA,NA,NA,NA,NA
chr5,156769910,156769910,C,-,P388862_S,FNDC9,Frame_Shift_Del,NM_001001343,exon2,c.635delG,p.G212Vfs*24,SNP,SNVindel,exonic,FNDC9,NA,frameshift deletion,FNDC9:NM_001001343:exon2:c.635delG:p.G212Vfs*24,NA,NA,NA,NA,NA,NA
chr5,180622404,180622419,CAGACGCCCTCCTCGG,-,P388862_S,TRIM7,Frame_Shift_Del,NM_203297,exon5,c.737_752del,p.P246Rfs*13,DEL,SNVindel,exonic,TRIM7,NA,frameshift deletion,"TRIM7:NM_203297:exon5:c.737_752del:p.P246Rfs*13,TRIM7:NM_203293:exon7:c.1283_1298del:p.P428Rfs*13,TRIM7:NM_203294:exon7:c.659_674del:p.P220Rfs*13,TRIM7:NM_203295:exon7:c.659_674del:p.P220Rfs*13,TRIM7:NM_203296:exon7:c.659_674del:p.P220Rfs*13",NA,NA,NA,NA,NA,NA
chr6,13620992,13620992,A,-,P388862_S,NOL7,Frame_Shift_Del,NM_001317724,exon8,c.707delA,p.K238Nfs*16,SNP,SNVindel,exonic,NOL7,NA,frameshift deletion,"NOL7:NM_001317724:exon8:c.707delA:p.K238Nfs*16,NOL7:NM_016167:exon8:c.707delA:p.K238Nfs*16",NA,NA,NA,NA,NA,NA
chr6,36839609,36839609,A,-,P388862_S,PPIL1,Frame_Shift_Del,NM_016059,exon2,c.96delT,p.P33Qfs*29,SNP,SNVindel,exonic,PPIL1,NA,frameshift deletion,PPIL1:NM_016059:exon2:c.96delT:p.P33Qfs*29,NA,NA,NA,NA,NA,NA
chr7,100284335,100284337,CCT,-,P388862_S,GIGYF1,In_Frame_Del,NM_022574,exon7,c.629_631del,p.E210del,DEL,SNVindel,exonic,GIGYF1,NA,nonframeshift deletion,GIGYF1:NM_022574:exon7:c.629_631del:p.E210del,NA,NA,NA,NA,NA,NA
chr7,139094365,139094366,AG,-,P388862_S,FMC1-LUC7L2,Frame_Shift_Del,NM_016019,exon7,c.744_745del,p.E253Rfs*34,DEL,SNVindel,exonic,FMC1-LUC7L2;LUC7L2,NA,frameshift deletion,"LUC7L2:NM_016019:exon7:c.744_745del:p.E253Rfs*34,FMC1-LUC7L2:NM_001244584:exon8:c.942_943del:p.E319Rfs*34,LUC7L2:NM_001244585:exon8:c.735_736del:p.E250Rfs*34,LUC7L2:NM_001270643:exon8:c.741_742del:p.E252Rfs*34",NA,NA,NA,NA,NA,NA
chr8,22145089,22145095,TCAAGCT,-,P388862_S,PIWIL2,Frame_Shift_Del,NM_001135721,exon7,c.792_798del,p.H264Qfs*26,DEL,SNVindel,exonic,PIWIL2,NA,frameshift deletion,"PIWIL2:NM_001135721:exon7:c.792_798del:p.H264Qfs*26,PIWIL2:NM_001330480:exon7:c.792_798del:p.H264Qfs*26,PIWIL2:NM_018068:exon7:c.792_798del:p.H264Qfs*26",NA,NA,NA,NA,NA,NA
chr10,45939610,45939612,CCC,-,P388862_S,ALOX5,In_Frame_Del,NM_000698,exon13,c.1721_1723del,p.P577del,DEL,SNVindel,exonic,ALOX5,NA,nonframeshift deletion,"ALOX5:NM_000698:exon13:c.1721_1723del:p.P577del,ALOX5:NM_001256153:exon13:c.1625_1627del:p.P545del,ALOX5:NM_001320861:exon13:c.1634_1636del:p.P548del,ALOX5:NM_001320862:exon13:c.1286_1288del:p.P432del",NA,NA,NA,NA,NA,NA
chr13,34398062,34398062,-,A,P388862_S,RFC3,Frame_Shift_Ins,NM_002915,exon3,c.235dupA,p.I82Nfs*2,SNP,SNVindel,exonic,RFC3,NA,frameshift insertion,"RFC3:NM_002915:exon3:c.235dupA:p.I82Nfs*2,RFC3:NM_181558:exon3:c.235dupA:p.I82Nfs*2",NA,NA,NA,NA,NA,NA
chr13,77581747,77581757,TCTGAATAGTA,-,P388862_S,FBXL3,Frame_Shift_Del,NM_012158,exon5,c.810_820del,p.H270Qfs*3,DEL,SNVindel,exonic,FBXL3,NA,frameshift deletion,FBXL3:NM_012158:exon5:c.810_820del:p.H270Qfs*3,NA,NA,NA,NA,NA,NA
chr16,51175656,51175658,GCT,-,P388862_S,SALL1,In_Frame_Del,NM_001127892,exon2,c.184_186del,p.S62del,DEL,SNVindel,exonic,SALL1,NA,nonframeshift deletion,"SALL1:NM_001127892:exon2:c.184_186del:p.S62del,SALL1:NM_002968:exon2:c.475_477del:p.S159del",NA,NA,NA,NA,NA,NA
chr16,84096984,84096988,ATCTG,-,P388862_S,MBTPS1,Frame_Shift_Del,NM_003791,exon19,c.2494_2498del,p.Q832Sfs*3,DEL,SNVindel,exonic,MBTPS1,NA,frameshift deletion,MBTPS1:NM_003791:exon19:c.2494_2498del:p.Q832Sfs*3,NA,NA,NA,NA,NA,NA
chr17,27001303,27001305,GAG,-,P388862_S,SUPT6H,In_Frame_Del,NM_003170,exon3,c.112_114del,p.E43del,DEL,SNVindel,exonic,SUPT6H,NA,nonframeshift deletion,"SUPT6H:NM_003170:exon3:c.112_114del:p.E43del,SUPT6H:NM_001320755:exon4:c.112_114del:p.E43del",NA,NA,NA,NA,NA,NA
chr17,36508663,36508665,AGC,-,P388862_S,SOCS7,In_Frame_Del,NM_014598,exon1,c.728_730del,p.Q251del,DEL,SNVindel,exonic,SOCS7,NA,nonframeshift deletion,SOCS7:NM_014598:exon1:c.728_730del:p.Q251del,NA,NA,NA,NA,NA,NA
chr18,44140367,44140372,CCTCCT,-,P388862_S,LOXHD1,In_Frame_Del,NM_144612,exon19,c.2735_2740del,p.E912_E913del,DEL,SNVindel,exonic,LOXHD1,NA,nonframeshift deletion,LOXHD1:NM_144612:exon19:c.2735_2740del:p.E912_E913del,NA,NA,NA,NA,NA,NA
chr19,2230596,2230596,G,-,P388862_S,PLEKHJ1,Frame_Shift_Del,NM_001300836,exon6,c.400delC,p.H134Tfs*62,SNP,SNVindel,exonic,PLEKHJ1,NA,frameshift deletion,PLEKHJ1:NM_001300836:exon6:c.400delC:p.H134Tfs*62,NA,NA,NA,NA,NA,NA
chr20,47770593,47770593,-,T,P388862_S,STAU1,Frame_Shift_Ins,NM_001322930,exon3,c.220dupA,p.T74Nfs*18,SNP,SNVindel,exonic,STAU1,NA,frameshift insertion,"STAU1:NM_001322930:exon3:c.220dupA:p.T74Nfs*18,STAU1:NM_001322932:exon3:c.220dupA:p.T74Nfs*18,STAU1:NM_001322933:exon4:c.220dupA:p.T74Nfs*18,STAU1:NM_017453:exon4:c.220dupA:p.T74Nfs*18,STAU1:NM_001319135:exon5:c.220dupA:p.T74Nfs*18,STAU1:NM_001322928:exon5:c.97dupA:p.T33Nfs*18,STAU1:NM_001322929:exon5:c.220dupA:p.T74Nfs*18,STAU1:NM_001322931:exon6:c.97dupA:p.T33Nfs*18",NA,NA,NA,NA,NA,NA
chr22,18314825,18314827,CTC,-,P388862_S,MICAL3,In_Frame_Del,NM_015241,exon21,c.2848_2850del,p.E950del,DEL,SNVindel,exonic,MICAL3,NA,nonframeshift deletion,MICAL3:NM_015241:exon21:c.2848_2850del:p.E950del,NA,NA,NA,NA,NA,NA
chr1,38032515,38032516,TC,-,P395201_F,GNL2,Frame_Shift_Del,NM_001323624,exon15,c.1587_1588del,p.K530Dfs*3,DEL,SNVindel,exonic,GNL2,NA,frameshift deletion,"GNL2:NM_001323624:exon15:c.1587_1588del:p.K530Dfs*3,GNL2:NM_013285:exon16:c.2136_2137del:p.K713Dfs*3,GNL2:NM_001323623:exon17:c.2340_2341del:p.K781Dfs*3",NA,NA,NA,NA,NA,NA
chr1,152081180,152081180,-,CTCTAA,P395201_F,TCHH,In_Frame_Ins,NM_007113,exon3,c.4512_4513insTTAGAG,p.R1504_E1505insLE,INS,SNVindel,exonic,TCHH,NA,nonframeshift insertion,TCHH:NM_007113:exon3:c.4512_4513insTTAGAG:p.R1504_E1505insLE,NA,NA,NA,NA,NA,NA
chr1,230798959,230798959,A,-,P395201_F,COG2,Frame_Shift_Del,NM_001145036,exon4,c.373delA,p.K127Rfs*5,SNP,SNVindel,exonic,COG2,NA,frameshift deletion,"COG2:NM_001145036:exon4:c.373delA:p.K127Rfs*5,COG2:NM_007357:exon4:c.373delA:p.K127Rfs*5",NA,NA,NA,NA,NA,NA
chr2,47797390,47797392,GCA,-,P395201_F,KCNK12,In_Frame_Del,NM_022055,exon1,c.79_81del,p.C27del,DEL,SNVindel,exonic,KCNK12,NA,nonframeshift deletion,KCNK12:NM_022055:exon1:c.79_81del:p.C27del,NA,NA,NA,NA,NA,NA
chr3,183493803,183493805,AGG,-,P395201_F,YEATS2,In_Frame_Del,NM_001351369,exon18,c.2469_2471del,p.G828del,DEL,SNVindel,exonic,YEATS2,NA,nonframeshift deletion,"YEATS2:NM_001351369:exon18:c.2469_2471del:p.G828del,YEATS2:NM_001351370:exon18:c.2472_2474del:p.G829del,YEATS2:NM_001351371:exon18:c.2469_2471del:p.G828del,YEATS2:NM_018023:exon18:c.2469_2471del:p.G828del",NA,NA,NA,NA,NA,NA
chr7,77268039,77268051,ACAGATATTGGTA,-,P395201_F,PTPN12,Frame_Shift_Del,NM_001131009,exon16,c.1882_1891del,p.T628Vfs*25,DEL,SNVindel,exonic,PTPN12,NA,frameshift deletion,"PTPN12:NM_001131009:exon16:c.1882_1891del:p.T628Vfs*25,PTPN12:NM_001131008:exon17:c.1915_1924del:p.T639Vfs*25,PTPN12:NM_002835:exon17:c.2272_2281del:p.T758Vfs*25",NA,NA,NA,NA,NA,NA
chr7,114269971,114269973,CAA,-,P395201_F,FOXP2,In_Frame_Del,NM_148899,exon4,c.508_510del,p.Q191del,DEL,SNVindel,exonic,FOXP2,NA,nonframeshift deletion,"FOXP2:NM_148899:exon4:c.508_510del:p.Q191del,FOXP2:NM_001172766:exon5:c.508_510del:p.Q191del,FOXP2:NM_001172767:exon5:c.583_585del:p.Q216del,FOXP2:NM_014491:exon5:c.508_510del:p.Q191del,FOXP2:NM_148898:exon6:c.583_585del:p.Q216del,FOXP2:NM_148900:exon6:c.559_561del:p.Q208del",NA,NA,NA,NA,NA,NA
chr12,57921731,57921731,-,G,P395201_F,MBD6,Frame_Shift_Ins,NM_052897,exon9,c.2338dupG,p.A783Sfs*10,SNP,SNVindel,exonic,MBD6,NA,frameshift insertion,MBD6:NM_052897:exon9:c.2338dupG:p.A783Sfs*10,NA,NA,NA,NA,NA,NA
chr12,133463875,133463877,GCG,-,P395201_F,CHFR,In_Frame_Del,NM_001161344,exon2,c.38_40del,p.P13del,DEL,SNVindel,exonic,CHFR,NA,nonframeshift deletion,"CHFR:NM_001161344:exon2:c.38_40del:p.P13del,CHFR:NM_001161345:exon2:c.38_40del:p.P13del,CHFR:NM_001161346:exon2:c.38_40del:p.P13del,CHFR:NM_001161347:exon2:c.38_40del:p.P13del,CHFR:NM_018223:exon2:c.38_40del:p.P13del",NA,NA,NA,NA,NA,NA
chr13,79176484,79176486,TGG,-,P395201_F,POU4F1,In_Frame_Del,NM_006237,exon2,c.324_326del,p.H108del,DEL,SNVindel,exonic,POU4F1,NA,nonframeshift deletion,POU4F1:NM_006237:exon2:c.324_326del:p.H108del,NA,NA,NA,NA,NA,NA
chr15,23685092,23685094,CTC,-,P395201_F,GOLGA6L2,In_Frame_Del,NM_001304388,exon8,c.2528_2530del,p.G843del,DEL,SNVindel,exonic,GOLGA6L2,NA,nonframeshift deletion,GOLGA6L2:NM_001304388:exon8:c.2528_2530del:p.G843del,NA,NA,NA,NA,NA,NA
chr16,51175656,51175658,GCT,-,P395201_F,SALL1,In_Frame_Del,NM_001127892,exon2,c.184_186del,p.S62del,DEL,SNVindel,exonic,SALL1,NA,nonframeshift deletion,"SALL1:NM_001127892:exon2:c.184_186del:p.S62del,SALL1:NM_002968:exon2:c.475_477del:p.S159del",NA,NA,NA,NA,NA,NA
chr16,67189037,67189039,GGC,-,P395201_F,TRADD,In_Frame_Del,NM_001323552,exon4,c.588_590del,p.P198del,DEL,SNVindel,exonic,TRADD,NA,nonframeshift deletion,"TRADD:NM_001323552:exon4:c.588_590del:p.P198del,TRADD:NM_003789:exon4:c.588_590del:p.P198del",NA,NA,NA,NA,NA,NA
chr19,2109182,2109183,CT,-,P395201_F,AP3D1,Frame_Shift_Del,NM_003938,exon28,c.3188_3189del,p.E1063Vfs*61,DEL,SNVindel,exonic,AP3D1,NA,frameshift deletion,"AP3D1:NM_003938:exon28:c.3188_3189del:p.E1063Vfs*61,AP3D1:NM_001261826:exon30:c.3374_3375del:p.E1125Vfs*61",NA,NA,NA,NA,NA,NA
chr19,49920666,49920668,CTG,-,P395201_F,CCDC155,In_Frame_Del,NM_144688,exon20,c.1588_1590del,p.L536del,DEL,SNVindel,exonic,CCDC155,NA,nonframeshift deletion,CCDC155:NM_144688:exon20:c.1588_1590del:p.L536del,NA,NA,NA,NA,NA,NA
chrX,150817142,150817144,GCT,-,P395201_F,PASD1,In_Frame_Del,NM_173493,exon9,c.685_687del,p.A236del,DEL,SNVindel,exonic,PASD1,NA,nonframeshift deletion,PASD1:NM_173493:exon9:c.685_687del:p.A236del,NA,NA,NA,NA,NA,NA
chr1,38032515,38032516,TC,-,P395201_S,GNL2,Frame_Shift_Del,NM_001323624,exon15,c.1587_1588del,p.K530Dfs*3,DEL,SNVindel,exonic,GNL2,NA,frameshift deletion,"GNL2:NM_001323624:exon15:c.1587_1588del:p.K530Dfs*3,GNL2:NM_013285:exon16:c.2136_2137del:p.K713Dfs*3,GNL2:NM_001323623:exon17:c.2340_2341del:p.K781Dfs*3",NA,NA,NA,NA,NA,NA
chr1,45293130,45293130,G,-,P395201_S,PTCH2,Frame_Shift_Del,NM_001166292,exon15,c.2315delC,p.P772Hfs*68,SNP,SNVindel,exonic,PTCH2,NA,frameshift deletion,"PTCH2:NM_001166292:exon15:c.2315delC:p.P772Hfs*68,PTCH2:NM_003738:exon15:c.2315delC:p.P772Hfs*68",NA,NA,NA,NA,NA,NA
chr1,150789283,150789283,G,-,P395201_S,ARNT,Frame_Shift_Del,NM_001197325,exon17,c.1738delC,p.R580Gfs*11,SNP,SNVindel,exonic,ARNT,NA,frameshift deletion,"ARNT:NM_001197325:exon17:c.1738delC:p.R580Gfs*11,ARNT:NM_178427:exon17:c.1738delC:p.R580Gfs*11,ARNT:NM_001286036:exon18:c.1783delC:p.R595Gfs*9,ARNT:NM_001350225:exon18:c.1780delC:p.R594Gfs*11,ARNT:NM_001350226:exon18:c.1777delC:p.R593Gfs*11,ARNT:NM_001668:exon18:c.1783delC:p.R595Gfs*11,ARNT:NM_001286035:exon19:c.1741delC:p.R581Gfs*11,ARNT:NM_001350224:exon19:c.1756delC:p.R586Gfs*11",NA,NA,NA,NA,NA,NA
chr3,49722905,49722905,-,GG,P395201_S,MST1,Frame_Shift_Ins,NM_020998,exon12,c.1421_1422insCC,p.D475Qfs*52,INS,SNVindel,exonic,MST1,NA,frameshift insertion,MST1:NM_020998:exon12:c.1421_1422insCC:p.D475Qfs*52,NA,NA,NA,NA,NA,NA
chr4,153896600,153896602,CAG,-,P395201_S,FHDC1,In_Frame_Del,NM_033393,exon11,c.2157_2159del,p.S723del,DEL,SNVindel,exonic,FHDC1,NA,nonframeshift deletion,"FHDC1:NM_033393:exon11:c.2157_2159del:p.S723del,FHDC1:NM_001371116:exon12:c.2157_2159del:p.S723del",NA,NA,NA,NA,NA,NA
chr4,156276929,156276929,G,-,P395201_S,MAP9,Frame_Shift_Del,NM_001039580,exon9,c.1229delC,p.P410Lfs*7,SNP,SNVindel,exonic,MAP9,NA,frameshift deletion,MAP9:NM_001039580:exon9:c.1229delC:p.P410Lfs*7,NA,NA,NA,NA,NA,NA
chr6,114181210,114181210,A,-,P395201_S,MARCKS,Frame_Shift_Del,NM_002356,exon2,c.454delA,p.K155Rfs*12,SNP,SNVindel,exonic,MARCKS,NA,frameshift deletion,MARCKS:NM_002356:exon2:c.454delA:p.K155Rfs*12,NA,NA,NA,NA,NA,NA
chr7,77268039,77268051,ACAGATATTGGTA,-,P395201_S,PTPN12,Frame_Shift_Del,NM_001131009,exon16,c.1882_1891del,p.T628Vfs*25,DEL,SNVindel,exonic,PTPN12,NA,frameshift deletion,"PTPN12:NM_001131009:exon16:c.1882_1891del:p.T628Vfs*25,PTPN12:NM_001131008:exon17:c.1915_1924del:p.T639Vfs*25,PTPN12:NM_002835:exon17:c.2272_2281del:p.T758Vfs*25",NA,NA,NA,NA,NA,NA
chr7,91732038,91732038,-,G,P395201_S,AKAP9,Frame_Shift_Ins,NM_005751,exon46,c.11229dupG,p.Q3746Afs*52,SNP,SNVindel,exonic,AKAP9,NA,frameshift insertion,"AKAP9:NM_005751:exon46:c.11229dupG:p.Q3746Afs*52,AKAP9:NM_147185:exon46:c.11205dupG:p.Q3738Afs*52",NA,NA,NA,NA,NA,NA
chr10,81050829,81050831,GCA,-,P395201_S,ZMIZ1,In_Frame_Del,NM_020338,exon10,c.654_656del,p.Q222del,DEL,SNVindel,exonic,ZMIZ1,NA,nonframeshift deletion,ZMIZ1:NM_020338:exon10:c.654_656del:p.Q222del,NA,NA,NA,NA,NA,NA
chr12,48063958,48063958,A,-,P395201_S,RPAP3,Frame_Shift_Del,NM_001146075,exon12,c.1356delT,p.T454Qfs*10,SNP,SNVindel,exonic,RPAP3,NA,frameshift deletion,"RPAP3:NM_001146075:exon12:c.1356delT:p.T454Qfs*10,RPAP3:NM_001146076:exon12:c.981delT:p.T329Qfs*10,RPAP3:NM_024604:exon13:c.1458delT:p.T488Qfs*10",NA,NA,NA,NA,NA,NA
chr14,24633132,24633134,AGC,-,P395201_S,IRF9,In_Frame_Del,NM_006084,exon5,c.541_543del,p.S187del,DEL,SNVindel,exonic,IRF9,NA,nonframeshift deletion,IRF9:NM_006084:exon5:c.541_543del:p.S187del,NA,NA,NA,NA,NA,NA
chr16,72822564,72822566,TGC,-,P395201_S,ZFHX3,In_Frame_Del,NM_001164766,exon9,c.6867_6869del,p.Q2290del,DEL,SNVindel,exonic,ZFHX3,NA,nonframeshift deletion,"ZFHX3:NM_001164766:exon9:c.6867_6869del:p.Q2290del,ZFHX3:NM_006885:exon10:c.9609_9611del:p.Q3204del",NA,NA,NA,NA,NA,NA
chr19,2109182,2109183,CT,-,P395201_S,AP3D1,Frame_Shift_Del,NM_003938,exon28,c.3188_3189del,p.E1063Vfs*61,DEL,SNVindel,exonic,AP3D1,NA,frameshift deletion,"AP3D1:NM_003938:exon28:c.3188_3189del:p.E1063Vfs*61,AP3D1:NM_001261826:exon30:c.3374_3375del:p.E1125Vfs*61",NA,NA,NA,NA,NA,NA
chr19,11577605,11577605,C,-,P395201_S,ELAVL3,Frame_Shift_Del,NM_001420,exon2,c.47delG,p.G16Afs*35,SNP,SNVindel,exonic,ELAVL3,NA,frameshift deletion,"ELAVL3:NM_001420:exon2:c.47delG:p.G16Afs*35,ELAVL3:NM_032281:exon2:c.47delG:p.G16Afs*35",NA,NA,NA,NA,NA,NA
chr19,23545126,23545126,-,G,P395201_S,ZNF91,Frame_Shift_Ins,NM_001300951,exon3,c.558dupC,p.F187Lfs*9,SNP,SNVindel,exonic,ZNF91,NA,frameshift insertion,"ZNF91:NM_001300951:exon3:c.558dupC:p.F187Lfs*9,ZNF91:NM_003430:exon4:c.654dupC:p.F219Lfs*9",NA,NA,NA,NA,NA,NA
chr20,17640431,17640431,T,-,P395201_S,RRBP1,Frame_Shift_Del,NM_001365613,exon3,c.722delA,p.K241Rfs*32,SNP,SNVindel,exonic,RRBP1,NA,frameshift deletion,RRBP1:NM_001365613:exon3:c.722delA:p.K241Rfs*32,NA,NA,NA,NA,NA,NA
chr20,39317087,39317089,TGG,-,P395201_S,MAFB,In_Frame_Del,NM_005461,exon1,c.402_404del,p.H138del,DEL,SNVindel,exonic,MAFB,NA,nonframeshift deletion,MAFB:NM_005461:exon1:c.402_404del:p.H138del,NA,NA,NA,NA,NA,NA
chr2,5833526,5833528,GAC,-,P398678_F,SOX11,In_Frame_Del,NM_003108,exon1,c.673_675del,p.D233del,DEL,SNVindel,exonic,SOX11,NA,nonframeshift deletion,SOX11:NM_003108:exon1:c.673_675del:p.D233del,NA,NA,NA,NA,NA,NA
chr3,42700747,42700749,GGA,-,P398678_F,ZBTB47,In_Frame_Del,NM_145166,exon2,c.900_902del,p.E307del,DEL,SNVindel,exonic,ZBTB47,NA,nonframeshift deletion,ZBTB47:NM_145166:exon2:c.900_902del:p.E307del,NA,NA,NA,NA,NA,NA
chr3,49395602,49395602,C,-,P398678_F,GPX1,Frame_Shift_Del,NM_001329455,exon1,c.110delG,p.G37Afs*11,SNP,SNVindel,exonic,GPX1,NA,frameshift deletion,GPX1:NM_001329455:exon1:c.110delG:p.G37Afs*11,NA,NA,NA,NA,NA,NA
chr6,41303645,41303647,CTG,-,P398678_F,NCR2,In_Frame_Del,NM_001199509,exon1,c.31_33del,p.L15del,DEL,SNVindel,exonic,NCR2,NA,nonframeshift deletion,"NCR2:NM_001199509:exon1:c.31_33del:p.L15del,NCR2:NM_001199510:exon1:c.31_33del:p.L15del,NCR2:NM_004828:exon1:c.31_33del:p.L15del",NA,NA,NA,NA,NA,NA
chr7,137531516,137531518,GGC,-,P398678_F,DGKI,In_Frame_Del,NM_001321708,exon1,c.91_93del,p.A31del,DEL,SNVindel,exonic,DGKI,NA,nonframeshift deletion,"DGKI:NM_001321708:exon1:c.91_93del:p.A31del,DGKI:NM_004717:exon1:c.91_93del:p.A31del",NA,NA,NA,NA,NA,NA
chr12,103352123,103352137,CGGCCGCAGCCGCGG,-,P398678_F,ASCL1,In_Frame_Del,NM_004316,exon1,c.101_115del,p.A43_A47del,DEL,SNVindel,exonic,ASCL1,NA,nonframeshift deletion,ASCL1:NM_004316:exon1:c.101_115del:p.A43_A47del,NA,NA,NA,NA,NA,NA
chr19,3905575,3905591,AACGTGGATGACATCGA,-,P398678_F,ATCAY,Frame_Shift_Del,NM_033064,exon4,c.280_296del,p.N94Dfs*4,DEL,SNVindel,exonic,ATCAY,NA,frameshift deletion,ATCAY:NM_033064:exon4:c.280_296del:p.N94Dfs*4,NA,NA,NA,NA,NA,NA
chr19,38899502,38899504,AAG,-,P398678_F,FAM98C,In_Frame_Del,NM_001351675,exon6,c.784_786del,p.K267del,DEL,SNVindel,exonic,FAM98C,NA,nonframeshift deletion,"FAM98C:NM_001351675:exon6:c.784_786del:p.K267del,FAM98C:NM_174905:exon8:c.1030_1032del:p.K349del",NA,NA,NA,NA,NA,NA
chr19,39019604,39019606,AGG,-,P398678_F,RYR1,In_Frame_Del,NM_001042723,exon75,c.11033_11035del,p.E3684del,DEL,SNVindel,exonic,RYR1,NA,nonframeshift deletion,"RYR1:NM_001042723:exon75:c.11033_11035del:p.E3684del,RYR1:NM_000540:exon76:c.11048_11050del:p.E3689del",NA,NA,NA,NA,NA,NA
chrX,115588811,115588811,C,-,P398678_F,SLC6A14,Frame_Shift_Del,NM_007231,exon13,c.1651delC,p.P551Lfs*15,SNP,SNVindel,exonic,SLC6A14,NA,frameshift deletion,SLC6A14:NM_007231:exon13:c.1651delC:p.P551Lfs*15,NA,NA,NA,NA,NA,NA
chr1,151678723,151678725,TGC,-,P398678_S,CELF3,In_Frame_Del,NM_001172649,exon9,c.951_953del,p.Q323del,DEL,SNVindel,exonic,CELF3,NA,nonframeshift deletion,"CELF3:NM_001172649:exon9:c.951_953del:p.Q323del,CELF3:NM_001172648:exon10:c.960_962del:p.Q326del,CELF3:NM_001291106:exon10:c.1098_1100del:p.Q372del,CELF3:NM_001291107:exon10:c.1098_1100del:p.Q372del,CELF3:NM_007185:exon10:c.1101_1103del:p.Q373del",NA,NA,NA,NA,NA,NA
chr1,156046687,156046689,GAG,-,P398678_S,MEX3A,In_Frame_Del,NM_001093725,exon2,c.1239_1241del,p.S415del,DEL,SNVindel,exonic,MEX3A,NA,nonframeshift deletion,MEX3A:NM_001093725:exon2:c.1239_1241del:p.S415del,NA,NA,NA,NA,NA,NA
chr2,44053533,44053536,AGAA,-,P398678_S,ABCG5,Frame_Shift_Del,NM_022436,exon6,c.759_762del,p.E255Ffs*11,DEL,SNVindel,exonic,ABCG5,NA,frameshift deletion,ABCG5:NM_022436:exon6:c.759_762del:p.E255Ffs*11,NA,NA,NA,NA,NA,NA
chr2,203922057,203922057,-,A,P398678_S,NBEAL1,Frame_Shift_Ins,NM_001114132,exon6,c.397dupA,p.E136Rfs*11,SNP,SNVindel,exonic,NBEAL1,NA,frameshift insertion,NBEAL1:NM_001114132:exon6:c.397dupA:p.E136Rfs*11,NA,NA,NA,NA,NA,NA
chr3,14547144,14547146,TCC,-,P398678_S,GRIP2,Unknown,NA,NA,NA,NA,DEL,SNVindel,exonic,GRIP2,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr5,118470023,118470030,TATATGAA,-,P398678_S,DMXL1,Frame_Shift_Del,NM_001290321,exon13,c.2315_2322del,p.L772Cfs*4,DEL,SNVindel,exonic,DMXL1,NA,frameshift deletion,"DMXL1:NM_001290321:exon13:c.2315_2322del:p.L772Cfs*4,DMXL1:NM_001290322:exon13:c.1796_1803del:p.L599Cfs*4,DMXL1:NM_005509:exon13:c.2315_2322del:p.L772Cfs*4,DMXL1:NM_001349239:exon14:c.2315_2322del:p.L772Cfs*4,DMXL1:NM_001349240:exon14:c.2315_2322del:p.L772Cfs*4",NA,NA,NA,NA,NA,NA
chr7,106826380,106826380,-,TTC,P398678_S,HBP1,In_Frame_Ins,NM_001244262,exon4,c.563_564insTTC,p.H188_E189insS,INS,SNVindel,exonic,HBP1,NA,nonframeshift insertion,"HBP1:NM_001244262:exon4:c.563_564insTTC:p.H188_E189insS,HBP1:NM_012257:exon4:c.533_534insTTC:p.H178_E179insS",NA,NA,NA,NA,NA,NA
chr9,126319874,126319874,-,A,P398678_S,DENND1A,Frame_Shift_Ins,NM_001352965,exon11,c.871dupT,p.Y291Lfs*17,SNP,SNVindel,exonic,DENND1A,NA,frameshift insertion,"DENND1A:NM_001352965:exon11:c.871dupT:p.Y291Lfs*17,DENND1A:NM_001352966:exon12:c.877dupT:p.Y293Lfs*17,DENND1A:NM_001352967:exon12:c.871dupT:p.Y291Lfs*17,DENND1A:NM_001352968:exon12:c.871dupT:p.Y291Lfs*17,DENND1A:NM_001352964:exon13:c.967dupT:p.Y323Lfs*17,DENND1A:NM_020946:exon13:c.967dupT:p.Y323Lfs*17,DENND1A:NM_024820:exon13:c.967dupT:p.Y323Lfs*17",NA,NA,NA,NA,NA,NA
chr11,4132866,4132866,A,-,P398678_S,RRM1,Frame_Shift_Del,NM_001318064,exon5,c.192delA,p.V66Wfs*9,SNP,SNVindel,exonic,RRM1,NA,frameshift deletion,"RRM1:NM_001318064:exon5:c.192delA:p.V66Wfs*9,RRM1:NM_001033:exon6:c.483delA:p.V163Wfs*9",NA,NA,NA,NA,NA,NA
chr11,73022516,73022517,GG,-,P398678_S,ARHGEF17,Frame_Shift_Del,NM_014786,exon1,c.2833_2834del,p.G945Qfs*28,DEL,SNVindel,exonic,ARHGEF17,NA,frameshift deletion,ARHGEF17:NM_014786:exon1:c.2833_2834del:p.G945Qfs*28,NA,NA,NA,NA,NA,NA
chr11,111899250,111899250,T,-,P398678_S,DLAT,Frame_Shift_Del,NM_001931,exon3,c.393delT,p.D131Efs*100,SNP,SNVindel,exonic,DLAT,NA,frameshift deletion,DLAT:NM_001931:exon3:c.393delT:p.D131Efs*100,NA,NA,NA,NA,NA,NA
chr12,6711145,6711147,TCC,-,P398678_S,CHD4,In_Frame_Del,NM_001297553,exon3,c.396_398del,p.E132del,DEL,SNVindel,exonic,CHD4,NA,nonframeshift deletion,"CHD4:NM_001297553:exon3:c.396_398del:p.E132del,CHD4:NM_001273:exon4:c.417_419del:p.E139del,CHD4:NM_001363606:exon4:c.417_419del:p.E139del",NA,NA,NA,NA,NA,NA
chr12,9305420,9305420,-,T,P398678_S,PZP,Frame_Shift_Ins,NM_002864,exon31,c.4120dupA,p.S1374Kfs*15,SNP,SNVindel,exonic,PZP,NA,frameshift insertion,PZP:NM_002864:exon31:c.4120dupA:p.S1374Kfs*15,NA,NA,NA,NA,NA,NA
chr12,49426730,49426732,GCT,-,P398678_S,KMT2D,In_Frame_Del,NM_003482,exon39,c.11756_11758del,p.Q3919del,DEL,SNVindel,exonic,KMT2D,NA,nonframeshift deletion,KMT2D:NM_003482:exon39:c.11756_11758del:p.Q3919del,NA,NA,NA,NA,NA,NA
chr12,49444960,49444960,G,-,P398678_S,KMT2D,Frame_Shift_Del,NM_003482,exon10,c.2506delC,p.Q836Sfs*94,SNP,SNVindel,exonic,KMT2D,NA,frameshift deletion,KMT2D:NM_003482:exon10:c.2506delC:p.Q836Sfs*94,NA,NA,NA,NA,NA,NA
chr12,132547069,132547071,GCA,-,P398678_S,EP400,In_Frame_Del,NM_015409,exon47,c.8157_8159del,p.Q2748del,DEL,SNVindel,exonic,EP400,NA,nonframeshift deletion,EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del,NA,NA,NA,NA,NA,NA
chr13,47127609,47127611,CCA,-,P398678_S,LRCH1,In_Frame_Del,NM_001164211,exon1,c.78_80del,p.H33del,DEL,SNVindel,exonic,LRCH1,NA,nonframeshift deletion,"LRCH1:NM_001164211:exon1:c.78_80del:p.H33del,LRCH1:NM_001164213:exon1:c.78_80del:p.H33del,LRCH1:NM_015116:exon1:c.78_80del:p.H33del",NA,NA,NA,NA,NA,NA
chr14,23829997,23829997,G,-,P398678_S,EFS,Frame_Shift_Del,NM_005864,exon2,c.64delC,p.Q22Rfs*42,SNP,SNVindel,exonic,EFS,NA,frameshift deletion,EFS:NM_005864:exon2:c.64delC:p.Q22Rfs*42,NA,NA,NA,NA,NA,NA
chr15,23686113,23686113,-,TGCTCTTGCATCTTCTCG,P398678_S,GOLGA6L2,In_Frame_Ins,NM_001304388,exon8,c.1508_1509insCGAGAAGATGCAAGAGCA,p.E502_Q503insHEKMQE,INS,SNVindel,exonic,GOLGA6L2,NA,nonframeshift insertion,GOLGA6L2:NM_001304388:exon8:c.1508_1509insCGAGAAGATGCAAGAGCA:p.E502_Q503insHEKMQE,NA,NA,NA,NA,NA,NA
chr22,20920814,20920816,CAG,-,P398678_S,MED15,In_Frame_Del,NM_001293236,exon6,c.538_540del,p.Q191del,DEL,SNVindel,exonic,MED15,NA,nonframeshift deletion,"MED15:NM_001293236:exon6:c.538_540del:p.Q191del,MED15:NM_001003891:exon7:c.751_753del:p.Q262del,MED15:NM_001293234:exon7:c.751_753del:p.Q262del,MED15:NM_001293235:exon7:c.673_675del:p.Q236del,MED15:NM_001293237:exon7:c.673_675del:p.Q236del,MED15:NM_015889:exon7:c.751_753del:p.Q262del",NA,NA,NA,NA,NA,NA
chrX,100749016,100749016,-,AGGCTC,P398678_S,ARMCX4,In_Frame_Ins,NM_001256155,exon2,c.5440_5441insAGGCTC,p.G1814delinsEAR,INS,SNVindel,exonic,ARMCX4,NA,nonframeshift insertion,ARMCX4:NM_001256155:exon2:c.5440_5441insAGGCTC:p.G1814delinsEAR,NA,NA,NA,NA,NA,NA
chr1,1684348,1684350,CCT,-,P404679_F,NADK,In_Frame_Del,NM_001198995,exon10,c.1238_1240del,p.E413del,DEL,SNVindel,exonic,NADK,NA,nonframeshift deletion,"NADK:NM_001198995:exon10:c.1238_1240del:p.E413del,NADK:NM_001198993:exon12:c.1334_1336del:p.E445del,NADK:NM_001353641:exon12:c.1334_1336del:p.E445del,NADK:NM_001353642:exon12:c.1073_1075del:p.E358del,NADK:NM_023018:exon12:c.1334_1336del:p.E445del,NADK:NM_001198994:exon14:c.1769_1771del:p.E590del",NA,NA,NA,NA,NA,NA
chr1,154842331,154842333,TGC,-,P404679_F,KCNN3,In_Frame_Del,NM_001204087,exon1,c.108_110del,p.Q41del,DEL,SNVindel,exonic,KCNN3,NA,nonframeshift deletion,"KCNN3:NM_001204087:exon1:c.108_110del:p.Q41del,KCNN3:NM_002249:exon1:c.108_110del:p.Q41del",NA,NA,NA,NA,NA,NA
chr2,73315337,73315339,TGG,-,P404679_F,RAB11FIP5,In_Frame_Del,NM_001371272,exon3,c.1407_1409del,p.H469del,DEL,SNVindel,exonic,RAB11FIP5,NA,nonframeshift deletion,"RAB11FIP5:NM_001371272:exon3:c.1407_1409del:p.H469del,RAB11FIP5:NM_015470:exon3:c.1407_1409del:p.H469del",NA,NA,NA,NA,NA,NA
chr3,178928107,178928109,CTG,-,P404679_F,PIK3CA,In_Frame_Del,NM_006218,exon8,c.1385_1387del,p.T462_G463delinsR,DEL,SNVindel,exonic,PIK3CA,NA,nonframeshift deletion,PIK3CA:NM_006218:exon8:c.1385_1387del:p.T462_G463delinsR,NA,NA,NA,NA,NA,NA
chr5,10433762,10433762,-,A,P404679_F,MARCHF6,Frame_Shift_Ins,NM_001270661,exon23,c.2385dupA,p.S796Ifs*13,SNP,SNVindel,exonic,MARCHF6,NA,frameshift insertion,"MARCHF6:NM_001270661:exon23:c.2385dupA:p.S796Ifs*13,MARCHF6:NM_001270660:exon25:c.2556dupA:p.S853Ifs*13,MARCHF6:NM_005885:exon26:c.2700dupA:p.S901Ifs*13",NA,NA,NA,NA,NA,NA
chr8,73921284,73921286,GAG,-,P404679_F,TERF1,In_Frame_Del,NM_003218,exon1,c.163_165del,p.E62del,DEL,SNVindel,exonic,TERF1,NA,nonframeshift deletion,"TERF1:NM_003218:exon1:c.163_165del:p.E62del,TERF1:NM_017489:exon1:c.163_165del:p.E62del",NA,NA,NA,NA,NA,NA
chr9,123476543,123476545,CGG,-,P404679_F,MEGF9,In_Frame_Del,NM_001080497,exon1,c.92_94del,p.A31del,DEL,SNVindel,exonic,MEGF9,NA,nonframeshift deletion,MEGF9:NM_001080497:exon1:c.92_94del:p.A31del,NA,NA,NA,NA,NA,NA
chr11,76227321,76227321,-,G,P404679_F,EMSY,Frame_Shift_Ins,NM_001300943,exon11,c.1653dupG,p.K554Qfs*4,SNP,SNVindel,exonic,EMSY,NA,frameshift insertion,"EMSY:NM_001300943:exon11:c.1653dupG:p.K554Qfs*4,EMSY:NM_020193:exon11:c.1650dupG:p.K553Qfs*4,EMSY:NM_001300942:exon12:c.1695dupG:p.K568Qfs*4,EMSY:NM_001300944:exon12:c.1695dupG:p.K568Qfs*4",NA,NA,NA,NA,NA,NA
chr14,23341527,23341529,CCT,-,P404679_F,LRP10,In_Frame_Del,NM_001329226,exon1,c.15_17del,p.L11del,DEL,SNVindel,exonic,LRP10,NA,nonframeshift deletion,"LRP10:NM_001329226:exon1:c.15_17del:p.L11del,LRP10:NM_014045:exon1:c.15_17del:p.L11del",NA,NA,NA,NA,NA,NA
chr16,51175656,51175658,GCT,-,P404679_F,SALL1,In_Frame_Del,NM_001127892,exon2,c.184_186del,p.S62del,DEL,SNVindel,exonic,SALL1,NA,nonframeshift deletion,"SALL1:NM_001127892:exon2:c.184_186del:p.S62del,SALL1:NM_002968:exon2:c.475_477del:p.S159del",NA,NA,NA,NA,NA,NA
chr22,18314825,18314827,CTC,-,P404679_F,MICAL3,In_Frame_Del,NM_015241,exon21,c.2848_2850del,p.E950del,DEL,SNVindel,exonic,MICAL3,NA,nonframeshift deletion,MICAL3:NM_015241:exon21:c.2848_2850del:p.E950del,NA,NA,NA,NA,NA,NA
chrX,68725179,68725181,CTG,-,P404679_F,FAM155B,In_Frame_Del,NM_015686,exon1,c.54_56del,p.C24del,DEL,SNVindel,exonic,FAM155B,NA,nonframeshift deletion,FAM155B:NM_015686:exon1:c.54_56del:p.C24del,NA,NA,NA,NA,NA,NA
chr3,93780211,93780212,TC,-,P404679_S,DHFR2,Frame_Shift_Del,NM_001195643,exon2,c.144_145del,p.N49Sfs*6,DEL,SNVindel,exonic,DHFR2,NA,frameshift deletion,"DHFR2:NM_001195643:exon2:c.144_145del:p.N49Sfs*6,DHFR2:NM_176815:exon2:c.144_145del:p.N49Sfs*6",NA,NA,NA,NA,NA,NA
chr5,10433762,10433762,-,A,P404679_S,MARCHF6,Frame_Shift_Ins,NM_001270661,exon23,c.2385dupA,p.S796Ifs*13,SNP,SNVindel,exonic,MARCHF6,NA,frameshift insertion,"MARCHF6:NM_001270661:exon23:c.2385dupA:p.S796Ifs*13,MARCHF6:NM_001270660:exon25:c.2556dupA:p.S853Ifs*13,MARCHF6:NM_005885:exon26:c.2700dupA:p.S901Ifs*13",NA,NA,NA,NA,NA,NA
chr7,2564930,2564930,-,GCTT,P404679_S,LFNG,Frame_Shift_Ins,NM_001040167,exon3,c.559_560insGCTT,p.F188Lfs*16,INS,SNVindel,exonic,LFNG,NA,frameshift insertion,"LFNG:NM_001040167:exon3:c.559_560insGCTT:p.F188Lfs*16,LFNG:NM_001040168:exon3:c.559_560insGCTT:p.F188Lfs*16,LFNG:NM_001166355:exon4:c.346_347insGCTT:p.F117Lfs*16,LFNG:NM_002304:exon4:c.172_173insGCTT:p.F59Lfs*16",NA,NA,NA,NA,NA,NA
chr7,154760693,154760695,CTG,-,P404679_S,PAXIP1,In_Frame_Del,NM_007349,exon7,c.1216_1218del,p.Q406del,DEL,SNVindel,exonic,PAXIP1,NA,nonframeshift deletion,PAXIP1:NM_007349:exon7:c.1216_1218del:p.Q406del,NA,NA,NA,NA,NA,NA
chr8,10467681,10467686,TCCTTC,-,P404679_S,RP1L1,In_Frame_Del,NM_178857,exon4,c.3922_3927del,p.E1308_G1309del,DEL,SNVindel,exonic,RP1L1,NA,nonframeshift deletion,RP1L1:NM_178857:exon4:c.3922_3927del:p.E1308_G1309del,NA,NA,NA,NA,NA,NA
chr10,126673560,126673560,-,A,P404679_S,ZRANB1,In_Frame_Ins,NM_017580,exon9,c.2127dupA,p.X709delinsX,SNP,SNVindel,exonic,ZRANB1,NA,nonframeshift insertion,ZRANB1:NM_017580:exon9:c.2127dupA:p.X709delinsX,NA,NA,NA,NA,NA,NA
chr11,72353321,72353323,GCG,-,P404679_S,PDE2A,In_Frame_Del,NM_001143839,exon1,c.98_100del,p.P33del,DEL,SNVindel,exonic,PDE2A,NA,nonframeshift deletion,"PDE2A:NM_001143839:exon1:c.98_100del:p.P33del,PDE2A:NM_002599:exon2:c.119_121del:p.P40del,PDE2A:NM_001146209:exon3:c.92_94del:p.P31del",NA,NA,NA,NA,NA,NA
chr11,76227321,76227321,-,G,P404679_S,EMSY,Frame_Shift_Ins,NM_001300943,exon11,c.1653dupG,p.K554Qfs*4,SNP,SNVindel,exonic,EMSY,NA,frameshift insertion,"EMSY:NM_001300943:exon11:c.1653dupG:p.K554Qfs*4,EMSY:NM_020193:exon11:c.1650dupG:p.K553Qfs*4,EMSY:NM_001300942:exon12:c.1695dupG:p.K568Qfs*4,EMSY:NM_001300944:exon12:c.1695dupG:p.K568Qfs*4",NA,NA,NA,NA,NA,NA
chr13,79918806,79918806,-,T,P404679_S,RBM26,Frame_Shift_Ins,NM_001286632,exon14,c.2109dupA,p.Q704Tfs*23,SNP,SNVindel,exonic,RBM26,NA,frameshift insertion,"RBM26:NM_001286632:exon14:c.2109dupA:p.Q704Tfs*23,RBM26:NM_022118:exon14:c.2100dupA:p.Q701Tfs*23,RBM26:NM_001286631:exon15:c.2187dupA:p.Q730Tfs*23,RBM26:NM_001366735:exon15:c.2181dupA:p.Q728Tfs*23",NA,NA,NA,NA,NA,NA
chr19,14165295,14165295,C,-,P404679_S,PALM3,Frame_Shift_Del,NM_001367327,exon5,c.991delG,p.A331Pfs*23,SNP,SNVindel,exonic,PALM3,NA,frameshift deletion,"PALM3:NM_001367327:exon5:c.991delG:p.A331Pfs*23,PALM3:NM_001145028:exon7:c.1189delG:p.A397Pfs*23",NA,NA,NA,NA,NA,NA
chr1,1684348,1684350,CCT,-,P411907_F,NADK,In_Frame_Del,NM_001198995,exon10,c.1238_1240del,p.E413del,DEL,SNVindel,exonic,NADK,NA,nonframeshift deletion,"NADK:NM_001198995:exon10:c.1238_1240del:p.E413del,NADK:NM_001198993:exon12:c.1334_1336del:p.E445del,NADK:NM_001353641:exon12:c.1334_1336del:p.E445del,NADK:NM_001353642:exon12:c.1073_1075del:p.E358del,NADK:NM_023018:exon12:c.1334_1336del:p.E445del,NADK:NM_001198994:exon14:c.1769_1771del:p.E590del",NA,NA,NA,NA,NA,NA
chr1,4772583,4772585,CCA,-,P411907_F,AJAP1,In_Frame_Del,NM_001042478,exon2,c.653_655del,p.T225del,DEL,SNVindel,exonic,AJAP1,NA,nonframeshift deletion,"AJAP1:NM_001042478:exon2:c.653_655del:p.T225del,AJAP1:NM_018836:exon2:c.653_655del:p.T225del",NA,NA,NA,NA,NA,NA
chr4,76862043,76862045,CAG,-,P411907_F,NAAA,In_Frame_Del,NM_001042402,exon1,c.58_60del,p.L20del,DEL,SNVindel,exonic,NAAA,NA,nonframeshift deletion,"NAAA:NM_001042402:exon1:c.58_60del:p.L20del,NAAA:NM_001363719:exon1:c.58_60del:p.L20del,NAAA:NM_014435:exon1:c.58_60del:p.L20del",NA,NA,NA,NA,NA,NA
chr13,110436297,110436299,CGG,-,P411907_F,IRS2,In_Frame_Del,NM_003749,exon1,c.2102_2104del,p.A701del,DEL,SNVindel,exonic,IRS2,NA,nonframeshift deletion,IRS2:NM_003749:exon1:c.2102_2104del:p.A701del,NA,NA,NA,NA,NA,NA
chr14,73572607,73572608,AG,-,P411907_F,RBM25,Frame_Shift_Del,NM_021239,exon11,c.1195_1196del,p.E404Tfs*33,DEL,SNVindel,exonic,RBM25,NA,frameshift deletion,RBM25:NM_021239:exon11:c.1195_1196del:p.E404Tfs*33,NA,NA,NA,NA,NA,NA
chr17,56387404,56387406,TCC,-,P411907_F,TSPOAP1,In_Frame_Del,NM_024418,exon20,c.3633_3635del,p.E1214del,DEL,SNVindel,exonic,TSPOAP1,NA,nonframeshift deletion,"TSPOAP1:NM_024418:exon20:c.3633_3635del:p.E1214del,TSPOAP1:NM_001261835:exon21:c.3813_3815del:p.E1274del,TSPOAP1:NM_004758:exon21:c.3813_3815del:p.E1274del",NA,NA,NA,NA,NA,NA
chr17,73498972,73498972,-,G,P411907_F,CASKIN2,Frame_Shift_Ins,NM_001142643,exon17,c.1936dupC,p.Q646Pfs*14,SNP,SNVindel,exonic,CASKIN2,NA,frameshift insertion,"CASKIN2:NM_001142643:exon17:c.1936dupC:p.Q646Pfs*14,CASKIN2:NM_020753:exon18:c.2182dupC:p.Q728Pfs*14",NA,NA,NA,NA,NA,NA
chr19,13065273,13065275,GCT,-,P411907_F,GADD45GIP1,In_Frame_Del,NM_052850,exon2,c.416_418del,p.Q139del,DEL,SNVindel,exonic,GADD45GIP1,NA,nonframeshift deletion,GADD45GIP1:NM_052850:exon2:c.416_418del:p.Q139del,NA,NA,NA,NA,NA,NA
chr1,67293496,67293506,TTATGTCCTCT,-,P411907_S,WDR78,Frame_Shift_Del,NM_024763,exon14,c.2101_2111del,p.R701Gfs*5,DEL,SNVindel,exonic,WDR78,NA,frameshift deletion,WDR78:NM_024763:exon14:c.2101_2111del:p.R701Gfs*5,NA,NA,NA,NA,NA,NA
chr1,151678723,151678725,TGC,-,P411907_S,CELF3,In_Frame_Del,NM_001172649,exon9,c.951_953del,p.Q323del,DEL,SNVindel,exonic,CELF3,NA,nonframeshift deletion,"CELF3:NM_001172649:exon9:c.951_953del:p.Q323del,CELF3:NM_001172648:exon10:c.960_962del:p.Q326del,CELF3:NM_001291106:exon10:c.1098_1100del:p.Q372del,CELF3:NM_001291107:exon10:c.1098_1100del:p.Q372del,CELF3:NM_007185:exon10:c.1101_1103del:p.Q373del",NA,NA,NA,NA,NA,NA
chr2,79312690,79312695,AGGAGA,-,P411907_S,REG1B,In_Frame_Del,NM_006507,exon5,c.356_361del,p.V119_Y121delinsD,DEL,SNVindel,exonic,REG1B,NA,nonframeshift deletion,REG1B:NM_006507:exon5:c.356_361del:p.V119_Y121delinsD,NA,NA,NA,NA,NA,NA
chr2,99439605,99439607,GGG,-,P411907_S,KIAA1211L,In_Frame_Del,NM_207362,exon7,c.1129_1131del,p.P377del,DEL,SNVindel,exonic,KIAA1211L,NA,nonframeshift deletion,KIAA1211L:NM_207362:exon7:c.1129_1131del:p.P377del,NA,NA,NA,NA,NA,NA
chr3,16475528,16475528,G,-,P411907_S,RFTN1,Frame_Shift_Del,NM_015150,exon3,c.162delC,p.S55Qfs*3,SNP,SNVindel,exonic,RFTN1,NA,frameshift deletion,RFTN1:NM_015150:exon3:c.162delC:p.S55Qfs*3,NA,NA,NA,NA,NA,NA
chr4,2321928,2321928,G,-,P411907_S,ZFYVE28,Frame_Shift_Del,NM_001172656,exon6,c.682delC,p.R228Gfs*10,SNP,SNVindel,exonic,ZFYVE28,NA,frameshift deletion,"ZFYVE28:NM_001172656:exon6:c.682delC:p.R228Gfs*10,ZFYVE28:NM_001172659:exon7:c.562delC:p.R188Gfs*10,ZFYVE28:NM_020972:exon7:c.772delC:p.R258Gfs*10",NA,NA,NA,NA,NA,NA
chr4,88929174,88929176,GAG,-,P411907_S,PKD2,In_Frame_Del,NM_000297,exon1,c.289_291del,p.E102del,DEL,SNVindel,exonic,PKD2,NA,nonframeshift deletion,PKD2:NM_000297:exon1:c.289_291del:p.E102del,NA,NA,NA,NA,NA,NA
chr4,108871552,108871552,-,TT,P411907_S,CYP2U1,Frame_Shift_Ins,NM_183075,exon5,c.1608_1609insTT,p.N538Lfs*3,INS,SNVindel,exonic,CYP2U1,NA,frameshift insertion,CYP2U1:NM_183075:exon5:c.1608_1609insTT:p.N538Lfs*3,NA,NA,NA,NA,NA,NA
chr6,76599857,76599857,-,A,P411907_S,MYO6,Frame_Shift_Ins,NM_001300899,exon26,c.2743dupA,p.Q918Tfs*24,SNP,SNVindel,exonic,MYO6,NA,frameshift insertion,"MYO6:NM_001300899:exon26:c.2743dupA:p.Q918Tfs*24,MYO6:NM_001368136:exon26:c.2743dupA:p.Q918Tfs*24,MYO6:NM_001368137:exon26:c.2743dupA:p.Q918Tfs*24,MYO6:NM_001368138:exon26:c.2728dupA:p.Q913Tfs*24,MYO6:NM_001368865:exon26:c.2743dupA:p.Q918Tfs*24,MYO6:NM_001368866:exon26:c.2743dupA:p.Q918Tfs*24,MYO6:NM_004999:exon26:c.2743dupA:p.Q918Tfs*24",NA,NA,NA,NA,NA,NA
chr9,33387044,33387044,T,-,P411907_S,AQP7,Frame_Shift_Del,NM_001318156,exon3,c.20delA,p.Y7Lfs*30,SNP,SNVindel,exonic,AQP7,NA,frameshift deletion,"AQP7:NM_001318156:exon3:c.20delA:p.Y7Lfs*30,AQP7:NM_001170:exon4:c.191delA:p.Y64Lfs*30,AQP7:NM_001318157:exon4:c.188delA:p.Y63Lfs*30,AQP7:NM_001318158:exon4:c.191delA:p.Y64Lfs*30",NA,NA,NA,NA,NA,NA
chr11,62300275,62300275,G,-,P411907_S,AHNAK,Frame_Shift_Del,NM_001346445,exon5,c.1614delC,p.S539Pfs*5,SNP,SNVindel,exonic,AHNAK,NA,frameshift deletion,"AHNAK:NM_001346445:exon5:c.1614delC:p.S539Pfs*5,AHNAK:NM_001346446:exon5:c.1614delC:p.S539Pfs*5,AHNAK:NM_001620:exon5:c.1614delC:p.S539Pfs*5",NA,NA,NA,NA,NA,NA
chr12,100813636,100813655,TGCATTACAGTGGTGTGATC,-,P411907_S,SLC17A8,Frame_Shift_Del,NM_001145288,exon11,c.1319_1338del,p.H441Lfs*14,DEL,SNVindel,exonic,SLC17A8,NA,frameshift deletion,"SLC17A8:NM_001145288:exon11:c.1319_1338del:p.H441Lfs*14,SLC17A8:NM_139319:exon12:c.1469_1488del:p.H491Lfs*14",NA,NA,NA,NA,NA,NA
chr15,54306508,54306525,AAGTCAGAGCTTCTAACA,-,P411907_S,UNC13C,In_Frame_Del,NM_001080534,exon1,c.1408_1425del,p.S471_K476del,DEL,SNVindel,exonic,UNC13C,NA,nonframeshift deletion,"UNC13C:NM_001080534:exon1:c.1408_1425del:p.S471_K476del,UNC13C:NM_001329919:exon2:c.1408_1425del:p.S471_K476del",NA,NA,NA,NA,NA,NA
chr15,76958026,76958026,T,-,P411907_S,SCAPER,Frame_Shift_Del,NM_001145923,exon21,c.1875delA,p.A626Pfs*4,SNP,SNVindel,exonic,SCAPER,NA,frameshift deletion,"SCAPER:NM_001145923:exon21:c.1875delA:p.A626Pfs*4,SCAPER:NM_020843:exon21:c.2613delA:p.A872Pfs*4,SCAPER:NM_001353009:exon22:c.2631delA:p.A878Pfs*4,SCAPER:NM_001353010:exon22:c.2211delA:p.A738Pfs*4,SCAPER:NM_001353011:exon22:c.2229delA:p.A744Pfs*4,SCAPER:NM_001353012:exon22:c.2211delA:p.A738Pfs*4",NA,NA,NA,NA,NA,NA
chr16,50368678,50368679,CT,-,P411907_S,BRD7,Frame_Shift_Del,NM_001173984,exon7,c.830_831del,p.E277Gfs*18,DEL,SNVindel,exonic,BRD7,NA,frameshift deletion,"BRD7:NM_001173984:exon7:c.830_831del:p.E277Gfs*18,BRD7:NM_013263:exon7:c.830_831del:p.E277Gfs*18",NA,NA,NA,NA,NA,NA
chr16,89776186,89776188,TGT,-,P411907_S,VPS9D1,In_Frame_Del,NM_004913,exon11,c.1385_1387del,p.Y462_R463delinsW,DEL,SNVindel,exonic,VPS9D1,NA,nonframeshift deletion,VPS9D1:NM_004913:exon11:c.1385_1387del:p.Y462_R463delinsW,NA,NA,NA,NA,NA,NA
chr17,27085594,27085600,GGGAGTG,-,P411907_S,FAM222B,Frame_Shift_Del,NM_001077498,exon3,c.1377_1383del,p.T460Ifs*49,DEL,SNVindel,exonic,FAM222B,NA,frameshift deletion,"FAM222B:NM_001077498:exon3:c.1377_1383del:p.T460Ifs*49,FAM222B:NM_001288634:exon3:c.1377_1383del:p.T460Ifs*49,FAM222B:NM_001288640:exon3:c.993_999del:p.T332Ifs*49,FAM222B:NM_001288631:exon4:c.1383_1389del:p.T462Ifs*49,FAM222B:NM_001288633:exon4:c.1377_1383del:p.T460Ifs*49,FAM222B:NM_001288635:exon4:c.1377_1383del:p.T460Ifs*49,FAM222B:NM_001288639:exon4:c.993_999del:p.T332Ifs*49,FAM222B:NM_018182:exon4:c.1377_1383del:p.T460Ifs*49,FAM222B:NM_001288632:exon5:c.1377_1383del:p.T460Ifs*49,FAM222B:NM_001288637:exon5:c.993_999del:p.T332Ifs*49,FAM222B:NM_001288638:exon5:c.993_999del:p.T332Ifs*49,FAM222B:NM_001288636:exon6:c.993_999del:p.T332Ifs*49",NA,NA,NA,NA,NA,NA
chr18,60985837,60985837,A,-,P411907_S,BCL2,Nonsense_Mutation,NM_000633,exon2,c.63delT,p.Y21*,SNP,SNVindel,exonic,BCL2,NA,stopgain,"BCL2:NM_000633:exon2:c.63delT:p.Y21*,BCL2:NM_000657:exon2:c.63delT:p.Y21*",NA,NA,NA,NA,NA,NA
chr19,12187526,12187527,TG,-,P411907_S,ZNF844,Frame_Shift_Del,NM_001136501,exon4,c.1591_1592del,p.C531Yfs*112,DEL,SNVindel,exonic,ZNF844,NA,frameshift deletion,ZNF844:NM_001136501:exon4:c.1591_1592del:p.C531Yfs*112,NA,NA,NA,NA,NA,NA
chr22,22041264,22041264,A,-,P411907_S,PPIL2,Frame_Shift_Del,NM_001317996,exon12,c.874delA,p.N292Tfs*8,SNP,SNVindel,exonic,PPIL2,NA,frameshift deletion,"PPIL2:NM_001317996:exon12:c.874delA:p.N292Tfs*8,PPIL2:NM_014337:exon12:c.874delA:p.N292Tfs*8,PPIL2:NM_148175:exon12:c.874delA:p.N292Tfs*8,PPIL2:NM_148176:exon12:c.874delA:p.N292Tfs*8",NA,NA,NA,NA,NA,NA
chr22,41569627,41569627,-,T,P411907_S,EP300,Frame_Shift_Ins,NM_001362843,exon28,c.4541dupT,p.T1515Dfs*9,SNP,SNVindel,exonic,EP300,NA,frameshift insertion,"EP300:NM_001362843:exon28:c.4541dupT:p.T1515Dfs*9,EP300:NM_001429:exon29:c.4619dupT:p.T1541Dfs*9",NA,NA,NA,NA,NA,NA
chr22,41569630,41569631,AC,-,P411907_S,EP300,Frame_Shift_Del,NM_001362843,exon28,c.4543_4544del,p.T1515Qfs*8,DEL,SNVindel,exonic,EP300,NA,frameshift deletion,"EP300:NM_001362843:exon28:c.4543_4544del:p.T1515Qfs*8,EP300:NM_001429:exon29:c.4621_4622del:p.T1541Qfs*8",NA,NA,NA,NA,NA,NA
chrX,49076225,49076227,TCC,-,P411907_S,CACNA1F,In_Frame_Del,NM_001256789,exon20,c.2409_2411del,p.E814del,DEL,SNVindel,exonic,CACNA1F,NA,nonframeshift deletion,"CACNA1F:NM_001256789:exon20:c.2409_2411del:p.E814del,CACNA1F:NM_001256790:exon20:c.2247_2249del:p.E760del,CACNA1F:NM_005183:exon20:c.2442_2444del:p.E825del",NA,NA,NA,NA,NA,NA
chr1,202097525,202097527,CTG,-,P432157_F,GPR37L1,In_Frame_Del,NM_004767,exon2,c.1287_1289del,p.C436del,DEL,SNVindel,exonic,GPR37L1,NA,nonframeshift deletion,GPR37L1:NM_004767:exon2:c.1287_1289del:p.C436del,NA,NA,NA,NA,NA,NA
chr4,2515498,2515498,T,-,P432157_F,RNF4,Frame_Shift_Del,NM_002938,exon8,c.525delT,p.C176Vfs*56,SNP,SNVindel,exonic,RNF4,NA,frameshift deletion,"RNF4:NM_002938:exon8:c.525delT:p.C176Vfs*56,RNF4:NM_001185009:exon9:c.525delT:p.C176Vfs*56",NA,NA,NA,NA,NA,NA
chr6,123673673,123673673,T,-,P432157_F,TRDN,Frame_Shift_Del,NM_001251987,exon21,c.1383delA,p.K461Nfs*5,SNP,SNVindel,exonic,TRDN,NA,frameshift deletion,TRDN:NM_001251987:exon21:c.1383delA:p.K461Nfs*5,NA,NA,NA,NA,NA,NA
chr7,45145278,45145278,-,GCAGCTCCTTGGAGGCCTTGGGG,P432157_F,TBRG4,Frame_Shift_Ins,NM_001261834,exon3,c.529_530insCCCCAAGGCCTCCAAGGAGCTGC,p.Q177Pfs*67,INS,SNVindel,exonic,TBRG4,NA,frameshift insertion,"TBRG4:NM_001261834:exon3:c.529_530insCCCCAAGGCCTCCAAGGAGCTGC:p.Q177Pfs*67,TBRG4:NM_004749:exon3:c.496_497insCCCCAAGGCCTCCAAGGAGCTGC:p.Q166Pfs*67,TBRG4:NM_030900:exon3:c.496_497insCCCCAAGGCCTCCAAGGAGCTGC:p.Q166Pfs*67,TBRG4:NM_199122:exon3:c.496_497insCCCCAAGGCCTCCAAGGAGCTGC:p.Q166Pfs*67",NA,NA,NA,NA,NA,NA
chr16,15045828,15045829,GT,-,P432157_F,NPIPA1,Frame_Shift_Del,NM_006985,exon8,c.999_1000del,p.V335Lfs*21,DEL,SNVindel,exonic,NPIPA1,NA,frameshift deletion,NPIPA1:NM_006985:exon8:c.999_1000del:p.V335Lfs*21,NA,NA,NA,NA,NA,NA
chr16,24921737,24921739,CAG,-,P432157_F,SLC5A11,In_Frame_Del,NM_001258412,exon14,c.1551_1553del,p.S522del,DEL,SNVindel,exonic,SLC5A11,NA,nonframeshift deletion,"SLC5A11:NM_001258412:exon14:c.1551_1553del:p.S522del,SLC5A11:NM_001258414:exon14:c.1293_1295del:p.S436del,SLC5A11:NM_001352237:exon14:c.1464_1466del:p.S493del,SLC5A11:NM_001352247:exon14:c.1380_1382del:p.S465del,SLC5A11:NM_001258411:exon15:c.1656_1658del:p.S557del,SLC5A11:NM_001258413:exon15:c.1569_1571del:p.S528del,SLC5A11:NM_001352238:exon15:c.1656_1658del:p.S557del,SLC5A11:NM_001352245:exon15:c.1485_1487del:p.S500del,SLC5A11:NM_001352246:exon15:c.1485_1487del:p.S500del,SLC5A11:NM_001352250:exon15:c.1680_1682del:p.S565del,SLC5A11:NM_001352259:exon15:c.1569_1571del:p.S528del,SLC5A11:NM_052944:exon15:c.1761_1763del:p.S592del,SLC5A11:NM_001352236:exon16:c.1569_1571del:p.S528del,SLC5A11:NM_001352242:exon16:c.1761_1763del:p.S592del,SLC5A11:NM_001352248:exon16:c.1761_1763del:p.S592del,SLC5A11:NM_001352235:exon17:c.1722_1724del:p.S579del,SLC5A11:NM_001352249:exon18:c.1569_1571del:p.S528del",NA,NA,NA,NA,NA,NA
chr16,55362674,55362676,GAG,-,P432157_F,IRX6,In_Frame_Del,NM_024335,exon5,c.784_786del,p.E268del,DEL,SNVindel,exonic,IRX6,NA,nonframeshift deletion,IRX6:NM_024335:exon5:c.784_786del:p.E268del,NA,NA,NA,NA,NA,NA
chr17,20768756,20768756,T,-,P432157_F,CCDC144NL,Frame_Shift_Del,NM_001004306,exon4,c.638delA,p.K213Rfs*8,SNP,SNVindel,exonic,CCDC144NL,NA,frameshift deletion,CCDC144NL:NM_001004306:exon4:c.638delA:p.K213Rfs*8,NA,NA,NA,NA,NA,NA
chr19,1578372,1578374,CTC,-,P432157_F,MBD3,In_Frame_Del,NM_001281453,exon6,c.841_843del,p.E281del,DEL,SNVindel,exonic,MBD3,NA,nonframeshift deletion,"MBD3:NM_001281453:exon6:c.841_843del:p.E281del,MBD3:NM_001281454:exon6:c.745_747del:p.E249del",NA,NA,NA,NA,NA,NA
chr20,37555323,37555325,GCG,-,P432157_F,FAM83D,In_Frame_Del,NM_030919,exon1,c.238_240del,p.A86del,DEL,SNVindel,exonic,FAM83D,NA,nonframeshift deletion,FAM83D:NM_030919:exon1:c.238_240del:p.A86del,NA,NA,NA,NA,NA,NA
chr1,2124346,2124348,TTG,-,P432157_S,FAAP20,In_Frame_Del,NM_001256946,exon4,c.537_539del,p.N179del,DEL,SNVindel,exonic,FAAP20,NA,nonframeshift deletion,FAAP20:NM_001256946:exon4:c.537_539del:p.N179del,NA,NA,NA,NA,NA,NA
chr1,2560819,2560821,CAG,-,P432157_S,MMEL1,In_Frame_Del,NM_033467,exon2,c.103_105del,p.L35del,DEL,SNVindel,exonic,MMEL1,NA,nonframeshift deletion,MMEL1:NM_033467:exon2:c.103_105del:p.L35del,NA,NA,NA,NA,NA,NA
chr2,172967129,172967131,GCT,-,P432157_S,DLX2,In_Frame_Del,NM_004405,exon1,c.136_138del,p.S46del,DEL,SNVindel,exonic,DLX2,NA,nonframeshift deletion,DLX2:NM_004405:exon1:c.136_138del:p.S46del,NA,NA,NA,NA,NA,NA
chr3,108682418,108682418,-,T,P432157_S,MORC1,Frame_Shift_Ins,NM_014429,exon27,c.2641dupA,p.I881Nfs*11,SNP,SNVindel,exonic,MORC1,NA,frameshift insertion,MORC1:NM_014429:exon27:c.2641dupA:p.I881Nfs*11,NA,NA,NA,NA,NA,NA
chr3,113098247,113098249,TCC,-,P432157_S,CFAP44,In_Frame_Del,NM_001164496,exon17,c.2202_2204del,p.E737del,DEL,SNVindel,exonic,CFAP44,NA,nonframeshift deletion,"CFAP44:NM_001164496:exon17:c.2202_2204del:p.E737del,CFAP44:NM_018338:exon17:c.2202_2204del:p.E737del",NA,NA,NA,NA,NA,NA
chr8,16012628,16012628,T,-,P432157_S,MSR1,Frame_Shift_Del,NM_001363744,exon6,c.897delA,p.G300Efs*18,SNP,SNVindel,exonic,MSR1,NA,frameshift deletion,"MSR1:NM_001363744:exon6:c.897delA:p.G300Efs*18,MSR1:NM_002445:exon6:c.843delA:p.G282Efs*18,MSR1:NM_138715:exon6:c.843delA:p.G282Efs*18,MSR1:NM_138716:exon6:c.843delA:p.G282Efs*18",NA,NA,NA,NA,NA,NA
chr11,5799651,5799651,-,A,P432157_S,OR52N5,Frame_Shift_Ins,NM_001001922,exon1,c.213dupT,p.G72Wfs*8,SNP,SNVindel,exonic,OR52N5,NA,frameshift insertion,OR52N5:NM_001001922:exon1:c.213dupT:p.G72Wfs*8,NA,NA,NA,NA,NA,NA
chr11,76506673,76506675,CTG,-,P432157_S,TSKU,In_Frame_Del,NM_001258210,exon2,c.13_15del,p.L9del,DEL,SNVindel,exonic,TSKU,NA,nonframeshift deletion,"TSKU:NM_001258210:exon2:c.13_15del:p.L9del,TSKU:NM_001318477:exon2:c.55_57del:p.L23del,TSKU:NM_001318478:exon2:c.13_15del:p.L9del,TSKU:NM_001318479:exon2:c.13_15del:p.L9del,TSKU:NM_015516:exon2:c.13_15del:p.L9del",NA,NA,NA,NA,NA,NA
chr12,6711207,6711209,CTT,-,P432157_S,CHD4,In_Frame_Del,NM_001297553,exon3,c.334_336del,p.K112del,DEL,SNVindel,exonic,CHD4,NA,nonframeshift deletion,"CHD4:NM_001297553:exon3:c.334_336del:p.K112del,CHD4:NM_001273:exon4:c.355_357del:p.K119del,CHD4:NM_001363606:exon4:c.355_357del:p.K119del",NA,NA,NA,NA,NA,NA
chr16,24921737,24921739,CAG,-,P432157_S,SLC5A11,In_Frame_Del,NM_001258412,exon14,c.1551_1553del,p.S522del,DEL,SNVindel,exonic,SLC5A11,NA,nonframeshift deletion,"SLC5A11:NM_001258412:exon14:c.1551_1553del:p.S522del,SLC5A11:NM_001258414:exon14:c.1293_1295del:p.S436del,SLC5A11:NM_001352237:exon14:c.1464_1466del:p.S493del,SLC5A11:NM_001352247:exon14:c.1380_1382del:p.S465del,SLC5A11:NM_001258411:exon15:c.1656_1658del:p.S557del,SLC5A11:NM_001258413:exon15:c.1569_1571del:p.S528del,SLC5A11:NM_001352238:exon15:c.1656_1658del:p.S557del,SLC5A11:NM_001352245:exon15:c.1485_1487del:p.S500del,SLC5A11:NM_001352246:exon15:c.1485_1487del:p.S500del,SLC5A11:NM_001352250:exon15:c.1680_1682del:p.S565del,SLC5A11:NM_001352259:exon15:c.1569_1571del:p.S528del,SLC5A11:NM_052944:exon15:c.1761_1763del:p.S592del,SLC5A11:NM_001352236:exon16:c.1569_1571del:p.S528del,SLC5A11:NM_001352242:exon16:c.1761_1763del:p.S592del,SLC5A11:NM_001352248:exon16:c.1761_1763del:p.S592del,SLC5A11:NM_001352235:exon17:c.1722_1724del:p.S579del,SLC5A11:NM_001352249:exon18:c.1569_1571del:p.S528del",NA,NA,NA,NA,NA,NA
chr17,18576348,18576350,CGC,-,P432157_S,FOXO3B,In_Frame_Del,NM_001368134,exon4,c.145_147del,p.A49del,DEL,SNVindel,exonic,FOXO3B,NA,nonframeshift deletion,"FOXO3B:NM_001368134:exon4:c.145_147del:p.A49del,FOXO3B:NM_001368135:exon4:c.145_147del:p.A49del",NA,NA,NA,NA,NA,NA
chr19,49926531,49926533,CAG,-,P432157_S,PTH2,In_Frame_Del,NM_178449,exon1,c.64_66del,p.L22del,DEL,SNVindel,exonic,PTH2,NA,nonframeshift deletion,PTH2:NM_178449:exon1:c.64_66del:p.L22del,NA,NA,NA,NA,NA,NA
chr19,56125279,56125281,TCC,-,P432157_S,ZNF865,In_Frame_Del,NM_001195605,exon1,c.295_297del,p.S117del,DEL,SNVindel,exonic,ZNF865,NA,nonframeshift deletion,ZNF865:NM_001195605:exon1:c.295_297del:p.S117del,NA,NA,NA,NA,NA,NA
chrX,68725179,68725181,CTG,-,P432157_S,FAM155B,In_Frame_Del,NM_015686,exon1,c.54_56del,p.C24del,DEL,SNVindel,exonic,FAM155B,NA,nonframeshift deletion,FAM155B:NM_015686:exon1:c.54_56del:p.C24del,NA,NA,NA,NA,NA,NA
chr2,211179766,211179766,T,-,R001_F,MYL1,Translation_Start_Site,NM_079420,exon1,c.1delA,p.M1?,SNP,SNVindel,exonic,MYL1,NA,startloss,MYL1:NM_079420:exon1:c.1delA:p.M1?,NA,NA,NA,NA,NA,NA
chr11,20676293,20676293,G,-,R001_F,SLC6A5,Frame_Shift_Del,NM_001318369,exon15,c.1571delG,p.G525Afs*4,SNP,SNVindel,exonic,SLC6A5,NA,frameshift deletion,"SLC6A5:NM_001318369:exon15:c.1571delG:p.G525Afs*4,SLC6A5:NM_004211:exon16:c.2273delG:p.G759Afs*4",NA,NA,NA,NA,NA,NA
chrX,24717586,24717586,-,A,R001_F,POLA1,Frame_Shift_Ins,NM_001330360,exon2,c.89dupA,p.S33Ifs*16,SNP,SNVindel,exonic,POLA1,NA,frameshift insertion,"POLA1:NM_001330360:exon2:c.89dupA:p.S33Ifs*16,POLA1:NM_016937:exon2:c.71dupA:p.S27Ifs*16",NA,NA,NA,NA,NA,NA
chr11,20676293,20676293,G,-,R001_S,SLC6A5,Frame_Shift_Del,NM_001318369,exon15,c.1571delG,p.G525Afs*4,SNP,SNVindel,exonic,SLC6A5,NA,frameshift deletion,"SLC6A5:NM_001318369:exon15:c.1571delG:p.G525Afs*4,SLC6A5:NM_004211:exon16:c.2273delG:p.G759Afs*4",NA,NA,NA,NA,NA,NA
chr1,154842277,154842277,A,-,R002_F,KCNN3,Frame_Shift_Del,NM_001204087,exon1,c.164delT,p.L55Rfs*121,SNP,SNVindel,exonic,KCNN3,NA,frameshift deletion,"KCNN3:NM_001204087:exon1:c.164delT:p.L55Rfs*121,KCNN3:NM_002249:exon1:c.164delT:p.L55Rfs*121",NA,NA,NA,NA,NA,NA
chr8,145689659,145689659,C,-,R002_F,CYHR1,Frame_Shift_Del,NM_001129888,exon3,c.430delG,p.A144Rfs*9,SNP,SNVindel,exonic,CYHR1,NA,frameshift deletion,"CYHR1:NM_001129888:exon3:c.430delG:p.A144Rfs*9,CYHR1:NM_032687:exon3:c.430delG:p.A144Rfs*9",NA,NA,NA,NA,NA,NA
chr9,140477492,140477494,CTC,-,R002_F,ZMYND19,In_Frame_Del,NM_138462,exon5,c.481_483del,p.E161del,DEL,SNVindel,exonic,ZMYND19,NA,nonframeshift deletion,ZMYND19:NM_138462:exon5:c.481_483del:p.E161del,NA,NA,NA,NA,NA,NA
chr2,40657363,40657366,ACAG,-,R002_S,SLC8A1,Nonsense_Mutation,NM_001112800,exon1,c.55_58del,p.L19*,DEL,SNVindel,exonic,SLC8A1,NA,stopgain,"SLC8A1:NM_001112800:exon1:c.55_58del:p.L19*,SLC8A1:NM_001252624:exon1:c.55_58del:p.L19*,SLC8A1:NM_021097:exon1:c.55_58del:p.L19*,SLC8A1:NM_001112801:exon2:c.55_58del:p.L19*,SLC8A1:NM_001112802:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351483:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351484:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351485:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351486:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351487:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351488:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351489:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351490:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351491:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351492:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351493:exon2:c.55_58del:p.L19*,SLC8A1:NM_001351494:exon2:c.55_58del:p.L19*",NA,NA,NA,NA,NA,NA
chr2,47205940,47205945,AACAGC,-,R002_S,TTC7A,In_Frame_Del,NM_001288951,exon5,c.658_663del,p.N220_S221del,DEL,SNVindel,exonic,TTC7A,NA,nonframeshift deletion,"TTC7A:NM_001288951:exon5:c.658_663del:p.N220_S221del,TTC7A:NM_020458:exon5:c.658_663del:p.N220_S221del,TTC7A:NM_001288953:exon6:c.556_561del:p.N186_S187del",NA,NA,NA,NA,NA,NA
chr3,171404490,171404497,TGAGTCCT,-,R002_S,PLD1,Frame_Shift_Del,NM_002662,exon16,c.1845_1852del,p.Q615Hfs*2,DEL,SNVindel,exonic,PLD1,NA,frameshift deletion,PLD1:NM_002662:exon16:c.1845_1852del:p.Q615Hfs*2,NA,NA,NA,NA,NA,NA
chr14,81744497,81744504,TTTGAGTT,-,R002_S,STON2,Frame_Shift_Del,NM_001256430,exon6,c.1151_1158del,p.K384Tfs*5,DEL,SNVindel,exonic,STON2,NA,frameshift deletion,"STON2:NM_001256430:exon6:c.1151_1158del:p.K384Tfs*5,STON2:NM_001366850:exon6:c.1151_1158del:p.K384Tfs*5,STON2:NM_001366849:exon7:c.1322_1329del:p.K441Tfs*5",NA,NA,NA,NA,NA,NA
chr15,75090993,75090993,A,-,R002_S,CSK,Frame_Shift_Del,NM_004383,exon3,c.53delA,p.Y18Sfs*54,SNP,SNVindel,exonic,CSK,NA,frameshift deletion,"CSK:NM_004383:exon3:c.53delA:p.Y18Sfs*54,CSK:NM_001127190:exon4:c.53delA:p.Y18Sfs*54,CSK:NM_001354988:exon5:c.53delA:p.Y18Sfs*54",NA,NA,NA,NA,NA,NA
chr19,1775407,1775407,-,C,R002_S,ONECUT3,Frame_Shift_Ins,NM_001080488,exon2,c.1449dupC,p.A485Rfs*217,SNP,SNVindel,exonic,ONECUT3,NA,frameshift insertion,ONECUT3:NM_001080488:exon2:c.1449dupC:p.A485Rfs*217,NA,NA,NA,NA,NA,NA
chr5,36984946,36984950,CTTCT,-,R003_F,NIPBL,Frame_Shift_Del,NM_015384,exon10,c.1664_1668del,p.A555Dfs*12,DEL,SNVindel,exonic,NIPBL,NA,frameshift deletion,"NIPBL:NM_015384:exon10:c.1664_1668del:p.A555Dfs*12,NIPBL:NM_133433:exon10:c.1664_1668del:p.A555Dfs*12",NA,NA,NA,NA,NA,NA
chr6,83847985,83847985,A,-,R003_F,DOP1A,Frame_Shift_Del,NM_001199942,exon21,c.4197delA,p.N1400Ifs*45,SNP,SNVindel,exonic,DOP1A,NA,frameshift deletion,"DOP1A:NM_001199942:exon21:c.4197delA:p.N1400Ifs*45,DOP1A:NM_015018:exon21:c.4224delA:p.N1409Ifs*45",NA,NA,NA,NA,NA,NA
chr6,83848121,83848141,GAAATTCTTATTTCTCTCTGC,-,R003_F,DOP1A,In_Frame_Del,NM_001199942,exon21,c.4333_4353del,p.E1445_C1451del,DEL,SNVindel,exonic,DOP1A,NA,nonframeshift deletion,"DOP1A:NM_001199942:exon21:c.4333_4353del:p.E1445_C1451del,DOP1A:NM_015018:exon21:c.4360_4380del:p.E1454_C1460del",NA,NA,NA,NA,NA,NA
chr17,38925168,38925172,TTTCT,-,R003_F,KRT26,Frame_Shift_Del,NM_181539,exon6,c.1146_1150del,p.K382Nfs*2,DEL,SNVindel,exonic,KRT26,NA,frameshift deletion,KRT26:NM_181539:exon6:c.1146_1150del:p.K382Nfs*2,NA,NA,NA,NA,NA,NA
chr20,48467301,48467301,T,-,R003_F,SLC9A8,Frame_Shift_Del,NM_001260491,exon7,c.537delT,p.F182Lfs*16,SNP,SNVindel,exonic,SLC9A8,NA,frameshift deletion,SLC9A8:NM_001260491:exon7:c.537delT:p.F182Lfs*16,NA,NA,NA,NA,NA,NA
chr1,23281869,23281870,GG,-,R003_S,LACTBL1,Frame_Shift_Del,NM_001289974,exon7,c.702_703del,p.Q235Gfs*62,DEL,SNVindel,exonic,LACTBL1,NA,frameshift deletion,LACTBL1:NM_001289974:exon7:c.702_703del:p.Q235Gfs*62,NA,NA,NA,NA,NA,NA
chr1,173819502,173819502,G,-,R003_S,DARS2,Nonsense_Mutation,NM_001365213,exon13,c.1229delG,p.W410*,SNP,SNVindel,exonic,DARS2,NA,stopgain,"DARS2:NM_001365213:exon13:c.1229delG:p.W410*,DARS2:NM_018122:exon13:c.1229delG:p.W410*",NA,NA,NA,NA,NA,NA
chr1,112020736,112020739,AACA,-,R004_F,C1orf162,Nonstop_Mutation,NM_001300835,exon5,c.372_375del,p.*127delinsSAFPMRLESISSHLSPIFTHHFHFFTNFGPPPV*,DEL,SNVindel,exonic,C1orf162,NA,stoploss,"C1orf162:NM_001300835:exon5:c.372_375del:p.*127delinsSAFPMRLESISSHLSPIFTHHFHFFTNFGPPPV*,C1orf162:NM_001300834:exon6:c.384_387del:p.*131delinsSAFPMRLESISSHLSPIFTHHFHFFTNFGPPPV*,C1orf162:NM_174896:exon6:c.459_462del:p.*156delinsSAFPMRLESISSHLSPIFTHHFHFFTNFGPPPV*",NA,NA,NA,NA,NA,NA
chr1,173517677,173517677,A,-,R004_F,SLC9C2,Frame_Shift_Del,NM_178527,exon12,c.1312delT,p.S438Pfs*6,SNP,SNVindel,exonic,SLC9C2,NA,frameshift deletion,SLC9C2:NM_178527:exon12:c.1312delT:p.S438Pfs*6,NA,NA,NA,NA,NA,NA
chr1,228475646,228475646,-,C,R004_F,OBSCN,Frame_Shift_Ins,NM_001098623,exon36,c.9797dupC,p.L3267Pfs*30,SNP,SNVindel,exonic,OBSCN,NA,frameshift insertion,"OBSCN:NM_001098623:exon36:c.9797dupC:p.L3267Pfs*30,OBSCN:NM_052843:exon36:c.9797dupC:p.L3267Pfs*30,OBSCN:NM_001271223:exon41:c.11084dupC:p.L3696Pfs*30",NA,NA,NA,NA,NA,NA
chr2,211179766,211179766,T,-,R004_F,MYL1,Translation_Start_Site,NM_079420,exon1,c.1delA,p.M1?,SNP,SNVindel,exonic,MYL1,NA,startloss,MYL1:NM_079420:exon1:c.1delA:p.M1?,NA,NA,NA,NA,NA,NA
chr5,32444350,32444352,GCC,-,R004_F,ZFR,In_Frame_Del,NM_016107,exon2,c.120_122del,p.A43del,DEL,SNVindel,exonic,ZFR,NA,nonframeshift deletion,ZFR:NM_016107:exon2:c.120_122del:p.A43del,NA,NA,NA,NA,NA,NA
chr6,138745263,138745263,T,-,R004_F,NHSL1,Frame_Shift_Del,NM_020464,exon7,c.4788delA,p.E1597Sfs*10,SNP,SNVindel,exonic,NHSL1,NA,frameshift deletion,"NHSL1:NM_020464:exon7:c.4788delA:p.E1597Sfs*10,NHSL1:NM_001144060:exon8:c.4776delA:p.E1593Sfs*10",NA,NA,NA,NA,NA,NA
chr11,76227299,76227299,G,-,R004_F,EMSY,Frame_Shift_Del,NM_001300943,exon11,c.1630delG,p.V544Yfs*5,SNP,SNVindel,exonic,EMSY,NA,frameshift deletion,"EMSY:NM_001300943:exon11:c.1630delG:p.V544Yfs*5,EMSY:NM_020193:exon11:c.1627delG:p.V543Yfs*5,EMSY:NM_001300942:exon12:c.1672delG:p.V558Yfs*5,EMSY:NM_001300944:exon12:c.1672delG:p.V558Yfs*5",NA,NA,NA,NA,NA,NA
chr16,3024002,3024002,-,TAGGCTGTCG,R004_F,PKMYT1,Frame_Shift_Ins,NM_001258450,exon7,c.1101_1102insCGACAGCCTA,p.G368Rfs*10,INS,SNVindel,exonic,PKMYT1,NA,frameshift insertion,"PKMYT1:NM_001258450:exon7:c.1101_1102insCGACAGCCTA:p.G368Rfs*10,PKMYT1:NM_001258451:exon7:c.1281_1282insCGACAGCCTA:p.G428Rfs*10,PKMYT1:NM_004203:exon7:c.1308_1309insCGACAGCCTA:p.G437Rfs*10,PKMYT1:NM_182687:exon7:c.1308_1309insCGACAGCCTA:p.G437Rfs*80",NA,NA,NA,NA,NA,NA
chr17,29665752,29665755,ACTT,-,R004_F,NF1,Frame_Shift_Del,NM_000267,exon45,c.6787_6790del,p.Y2264Tfs*5,DEL,SNVindel,exonic,NF1,NA,frameshift deletion,"NF1:NM_000267:exon45:c.6787_6790del:p.Y2264Tfs*5,NF1:NM_001042492:exon46:c.6850_6853del:p.Y2285Tfs*5",NA,NA,NA,NA,NA,NA
chr1,228475646,228475646,-,C,R004_S,OBSCN,Frame_Shift_Ins,NM_001098623,exon36,c.9797dupC,p.L3267Pfs*30,SNP,SNVindel,exonic,OBSCN,NA,frameshift insertion,"OBSCN:NM_001098623:exon36:c.9797dupC:p.L3267Pfs*30,OBSCN:NM_052843:exon36:c.9797dupC:p.L3267Pfs*30,OBSCN:NM_001271223:exon41:c.11084dupC:p.L3696Pfs*30",NA,NA,NA,NA,NA,NA
chr6,138745263,138745263,T,-,R004_S,NHSL1,Frame_Shift_Del,NM_020464,exon7,c.4788delA,p.E1597Sfs*10,SNP,SNVindel,exonic,NHSL1,NA,frameshift deletion,"NHSL1:NM_020464:exon7:c.4788delA:p.E1597Sfs*10,NHSL1:NM_001144060:exon8:c.4776delA:p.E1593Sfs*10",NA,NA,NA,NA,NA,NA
chr11,76227299,76227299,G,-,R004_S,EMSY,Frame_Shift_Del,NM_001300943,exon11,c.1630delG,p.V544Yfs*5,SNP,SNVindel,exonic,EMSY,NA,frameshift deletion,"EMSY:NM_001300943:exon11:c.1630delG:p.V544Yfs*5,EMSY:NM_020193:exon11:c.1627delG:p.V543Yfs*5,EMSY:NM_001300942:exon12:c.1672delG:p.V558Yfs*5,EMSY:NM_001300944:exon12:c.1672delG:p.V558Yfs*5",NA,NA,NA,NA,NA,NA
chr16,3024002,3024002,-,TAGGCTGTCG,R004_S,PKMYT1,Frame_Shift_Ins,NM_001258450,exon7,c.1101_1102insCGACAGCCTA,p.G368Rfs*10,INS,SNVindel,exonic,PKMYT1,NA,frameshift insertion,"PKMYT1:NM_001258450:exon7:c.1101_1102insCGACAGCCTA:p.G368Rfs*10,PKMYT1:NM_001258451:exon7:c.1281_1282insCGACAGCCTA:p.G428Rfs*10,PKMYT1:NM_004203:exon7:c.1308_1309insCGACAGCCTA:p.G437Rfs*10,PKMYT1:NM_182687:exon7:c.1308_1309insCGACAGCCTA:p.G437Rfs*80",NA,NA,NA,NA,NA,NA
chr17,29665752,29665755,ACTT,-,R004_S,NF1,Frame_Shift_Del,NM_000267,exon45,c.6787_6790del,p.Y2264Tfs*5,DEL,SNVindel,exonic,NF1,NA,frameshift deletion,"NF1:NM_000267:exon45:c.6787_6790del:p.Y2264Tfs*5,NF1:NM_001042492:exon46:c.6850_6853del:p.Y2285Tfs*5",NA,NA,NA,NA,NA,NA
chr19,40719954,40719960,AGCACCA,-,R004_S,MAP3K10,Frame_Shift_Del,NM_002446,exon9,c.2368_2374del,p.S790Tfs*30,DEL,SNVindel,exonic,MAP3K10,NA,frameshift deletion,MAP3K10:NM_002446:exon9:c.2368_2374del:p.S790Tfs*30,NA,NA,NA,NA,NA,NA
chr5,178392179,178392182,ACTT,-,R005_F,ZNF454,Frame_Shift_Del,NM_001178089,exon5,c.774_777del,p.L259Rfs*108,DEL,SNVindel,exonic,ZNF454,NA,frameshift deletion,"ZNF454:NM_001178089:exon5:c.774_777del:p.L259Rfs*108,ZNF454:NM_001178090:exon5:c.774_777del:p.L259Rfs*108,ZNF454:NM_001323306:exon5:c.774_777del:p.L259Rfs*108,ZNF454:NM_182594:exon5:c.774_777del:p.L259Rfs*108",NA,NA,NA,NA,NA,NA
chr12,122674887,122674887,-,C,R005_F,LRRC43,Frame_Shift_Ins,NM_001098519,exon5,c.874dupC,p.L292Pfs*54,SNP,SNVindel,exonic,LRRC43,NA,frameshift insertion,"LRRC43:NM_001098519:exon5:c.874dupC:p.L292Pfs*54,LRRC43:NM_152759:exon5:c.319dupC:p.L107Pfs*54",NA,NA,NA,NA,NA,NA
chr16,50368678,50368679,CT,-,R005_F,BRD7,Frame_Shift_Del,NM_001173984,exon7,c.830_831del,p.E277Gfs*18,DEL,SNVindel,exonic,BRD7,NA,frameshift deletion,"BRD7:NM_001173984:exon7:c.830_831del:p.E277Gfs*18,BRD7:NM_013263:exon7:c.830_831del:p.E277Gfs*18",NA,NA,NA,NA,NA,NA
chr17,45234407,45234407,A,-,R005_F,CDC27,Nonsense_Mutation,NM_001353050,exon5,c.405delT,p.V136*,SNP,SNVindel,exonic,CDC27,NA,stopgain,"CDC27:NM_001353050:exon5:c.405delT:p.V136*,CDC27:NM_001293091:exon6:c.531delT:p.V178*,CDC27:NM_001353049:exon6:c.531delT:p.V178*,CDC27:NM_001114091:exon7:c.714delT:p.V239*,CDC27:NM_001256:exon7:c.714delT:p.V239*,CDC27:NM_001293089:exon7:c.714delT:p.V239*,CDC27:NM_001353035:exon7:c.714delT:p.V239*,CDC27:NM_001353047:exon7:c.714delT:p.V239*",NA,NA,NA,NA,NA,NA
chr5,178392179,178392182,ACTT,-,R005_S,ZNF454,Frame_Shift_Del,NM_001178089,exon5,c.774_777del,p.L259Rfs*108,DEL,SNVindel,exonic,ZNF454,NA,frameshift deletion,"ZNF454:NM_001178089:exon5:c.774_777del:p.L259Rfs*108,ZNF454:NM_001178090:exon5:c.774_777del:p.L259Rfs*108,ZNF454:NM_001323306:exon5:c.774_777del:p.L259Rfs*108,ZNF454:NM_182594:exon5:c.774_777del:p.L259Rfs*108",NA,NA,NA,NA,NA,NA
chr12,122674887,122674887,-,C,R005_S,LRRC43,Frame_Shift_Ins,NM_001098519,exon5,c.874dupC,p.L292Pfs*54,SNP,SNVindel,exonic,LRRC43,NA,frameshift insertion,"LRRC43:NM_001098519:exon5:c.874dupC:p.L292Pfs*54,LRRC43:NM_152759:exon5:c.319dupC:p.L107Pfs*54",NA,NA,NA,NA,NA,NA
chr14,89878533,89878533,-,G,R005_S,FOXN3,Frame_Shift_Ins,NM_001085471,exon2,c.287dupC,p.S97Ifs*6,SNP,SNVindel,exonic,FOXN3,NA,frameshift insertion,"FOXN3:NM_001085471:exon2:c.287dupC:p.S97Ifs*6,FOXN3:NM_005197:exon2:c.287dupC:p.S97Ifs*6",NA,NA,NA,NA,NA,NA
chr17,1960405,1960407,GGC,-,R006_F,HIC1,In_Frame_Del,NM_001098202,exon2,c.478_480del,p.G167del,DEL,SNVindel,exonic,HIC1,NA,nonframeshift deletion,"HIC1:NM_001098202:exon2:c.478_480del:p.G167del,HIC1:NM_006497:exon2:c.421_423del:p.G148del",NA,NA,NA,NA,NA,NA
chr1,32256550,32256550,T,-,R006_S,SPOCD1,Frame_Shift_Del,NM_001281988,exon15,c.1745delA,p.N582Tfs*25,SNP,SNVindel,exonic,SPOCD1,NA,frameshift deletion,"SPOCD1:NM_001281988:exon15:c.1745delA:p.N582Tfs*25,SPOCD1:NM_001281987:exon16:c.3266delA:p.N1089Tfs*25,SPOCD1:NM_144569:exon16:c.3305delA:p.N1102Tfs*25",NA,NA,NA,NA,NA,NA
chr2,15629076,15629076,A,-,R006_S,NBAS,Frame_Shift_Del,NM_015909,exon12,c.1025delT,p.L342Rfs*9,SNP,SNVindel,exonic,NBAS,NA,frameshift deletion,NBAS:NM_015909:exon12:c.1025delT:p.L342Rfs*9,NA,NA,NA,NA,NA,NA
chr3,112987190,112987192,GAT,-,R006_S,BOC,In_Frame_Del,NM_001301861,exon5,c.421_423del,p.D141del,DEL,SNVindel,exonic,BOC,NA,nonframeshift deletion,"BOC:NM_001301861:exon5:c.421_423del:p.D141del,BOC:NM_033254:exon5:c.421_423del:p.D141del",NA,NA,NA,NA,NA,NA
chr5,140308778,140308778,C,-,R006_S,PCDHAC1,Frame_Shift_Del,NM_018898,exon1,c.2301delC,p.N767Kfs*21,SNP,SNVindel,exonic,PCDHAC1,NA,frameshift deletion,"PCDHAC1:NM_018898:exon1:c.2301delC:p.N767Kfs*21,PCDHAC1:NM_031882:exon1:c.2301delC:p.N767Kfs*21",NA,NA,NA,NA,NA,NA
chr5,167420057,167420057,G,-,R006_S,TENM2,Frame_Shift_Del,NM_001080428,exon3,c.483delG,p.R163Gfs*11,SNP,SNVindel,exonic,TENM2,NA,frameshift deletion,"TENM2:NM_001080428:exon3:c.483delG:p.R163Gfs*11,TENM2:NM_001368145:exon4:c.600delG:p.R202Gfs*11,TENM2:NM_001368146:exon4:c.600delG:p.R202Gfs*11,TENM2:NM_001122679:exon6:c.1056delG:p.R354Gfs*11",NA,NA,NA,NA,NA,NA
chr8,109455875,109455893,AGGTTCTGGGAAGATGGCG,-,R006_S,EMC2,Translation_Start_Site,NM_001329493,exon1,c.1_6del,p.M1?,DEL,SNVindel,exonic,EMC2,NA,startloss,"EMC2:NM_001329493:exon1:c.1_6del:p.M1?,EMC2:NM_001329494:exon1:c.1_6del:p.M1?,EMC2:NM_014673:exon1:c.1_6del:p.M1?",NA,NA,NA,NA,NA,NA
chr12,72307622,72307622,G,-,R006_S,TBC1D15,Frame_Shift_Del,NM_001146213,exon12,c.1317delG,p.M439Ifs*11,SNP,SNVindel,exonic,TBC1D15,NA,frameshift deletion,"TBC1D15:NM_001146213:exon12:c.1317delG:p.M439Ifs*11,TBC1D15:NM_001146214:exon13:c.1341delG:p.M447Ifs*11,TBC1D15:NM_022771:exon13:c.1368delG:p.M456Ifs*11",NA,NA,NA,NA,NA,NA
chr16,30995180,30995180,T,-,R006_S,SETD1A,Frame_Shift_Del,NM_014712,exon19,c.4960delT,p.Y1654Tfs*14,SNP,SNVindel,exonic,SETD1A,NA,frameshift deletion,SETD1A:NM_014712:exon19:c.4960delT:p.Y1654Tfs*14,NA,NA,NA,NA,NA,NA
chr17,29665755,29665755,-,A,R006_S,NF1,Nonsense_Mutation,NM_000267,exon45,c.6791dupA,p.Y2264*,SNP,SNVindel,exonic,NF1,NA,stopgain,"NF1:NM_000267:exon45:c.6791dupA:p.Y2264*,NF1:NM_001042492:exon46:c.6854dupA:p.Y2285*",NA,NA,NA,NA,NA,NA
chr19,35551065,35551066,TC,-,R006_S,HPN,Frame_Shift_Del,NM_182983,exon7,c.446_447del,p.I149Mfs*34,DEL,SNVindel,exonic,HPN,NA,frameshift deletion,"HPN:NM_182983:exon7:c.446_447del:p.I149Mfs*34,HPN:NM_002151:exon8:c.446_447del:p.I149Mfs*34",NA,NA,NA,NA,NA,NA
chr19,38886424,38886424,C,-,R006_S,SPRED3,Frame_Shift_Del,NM_001042522,exon5,c.872delC,p.A291Gfs*39,SNP,SNVindel,exonic,SPRED3,NA,frameshift deletion,SPRED3:NM_001042522:exon5:c.872delC:p.A291Gfs*39,NA,NA,NA,NA,NA,NA
chr22,24911333,24911338,ACTCAG,-,R006_S,UPB1,In_Frame_Del,NM_016327,exon6,c.786_791del,p.L263_S264del,DEL,SNVindel,exonic,UPB1,NA,nonframeshift deletion,UPB1:NM_016327:exon6:c.786_791del:p.L263_S264del,NA,NA,NA,NA,NA,NA
chr1,93599288,93599288,-,TGA,R007_F,MTF2,In_Frame_Ins,NM_001164393,exon10,c.883_884insTGA,p.G295delinsVR,INS,SNVindel,exonic,MTF2,NA,nonframeshift insertion,"MTF2:NM_001164393:exon10:c.883_884insTGA:p.G295delinsVR,MTF2:NM_001164392:exon11:c.1018_1019insTGA:p.G340delinsVR,MTF2:NM_007358:exon12:c.1189_1190insTGA:p.G397delinsVR,MTF2:NM_001164391:exon13:c.883_884insTGA:p.G295delinsVR",NA,NA,NA,NA,NA,NA
chr6,150001230,150001232,TCA,-,R007_F,LATS1,In_Frame_Del,NM_001350392,exon4,c.1532_1534del,p.M511del,DEL,SNVindel,exonic,LATS1,NA,nonframeshift deletion,"LATS1:NM_001350392:exon4:c.1532_1534del:p.M511del,LATS1:NM_004690:exon5:c.2372_2374del:p.M791del,LATS1:NM_001350339:exon6:c.2057_2059del:p.M686del,LATS1:NM_001350340:exon6:c.2057_2059del:p.M686del",NA,NA,NA,NA,NA,NA
chr7,101833121,101833124,CTGA,-,R007_F,CUX1,Frame_Shift_Del,NM_001202544,exon11,c.1031_1034del,p.D345Mfs*4,DEL,SNVindel,exonic,CUX1,NA,frameshift deletion,"CUX1:NM_001202544:exon11:c.1031_1034del:p.D345Mfs*4,CUX1:NM_001202545:exon11:c.941_944del:p.D315Mfs*4,CUX1:NM_001202546:exon11:c.962_965del:p.D322Mfs*4,CUX1:NM_001202543:exon12:c.1079_1082del:p.D361Mfs*4,CUX1:NM_001913:exon12:c.1079_1082del:p.D361Mfs*4,CUX1:NM_181500:exon12:c.1073_1076del:p.D359Mfs*4,CUX1:NM_181552:exon12:c.1046_1049del:p.D350Mfs*4",NA,NA,NA,NA,NA,NA
chr10,89717695,89717695,-,T,R007_F,PTEN,Nonsense_Mutation,NM_000314,exon7,c.721dupT,p.E242*,SNP,SNVindel,exonic,PTEN,NA,stopgain,"PTEN:NM_000314:exon7:c.721dupT:p.E242*,PTEN:NM_001304718:exon7:c.130dupT:p.E45*,PTEN:NM_001304717:exon8:c.1240dupT:p.E415*",NA,NA,NA,NA,NA,NA
chr11,76169328,76169329,CT,-,R007_F,EMSY,Frame_Shift_Del,NM_001300943,exon5,c.347_348del,p.A116Efs*5,DEL,SNVindel,exonic,EMSY,NA,frameshift deletion,"EMSY:NM_001300943:exon5:c.347_348del:p.A116Efs*5,EMSY:NM_020193:exon5:c.347_348del:p.A116Efs*5,EMSY:NM_001300942:exon6:c.389_390del:p.A130Efs*5,EMSY:NM_001300944:exon6:c.389_390del:p.A130Efs*5",NA,NA,NA,NA,NA,NA
chr12,11338798,11338798,-,A,R007_F,TAS2R42,Frame_Shift_Ins,NM_181429,exon1,c.745dupT,p.S249Ffs*55,SNP,SNVindel,exonic,TAS2R42,NA,frameshift insertion,TAS2R42:NM_181429:exon1:c.745dupT:p.S249Ffs*55,NA,NA,NA,NA,NA,NA
chr19,18188344,18188345,GG,-,R007_F,IL12RB1,Frame_Shift_Del,NM_001290023,exon5,c.530_531del,p.P177Qfs*14,DEL,SNVindel,exonic,IL12RB1,NA,frameshift deletion,"IL12RB1:NM_001290023:exon5:c.530_531del:p.P177Qfs*14,IL12RB1:NM_005535:exon5:c.530_531del:p.P177Qfs*14,IL12RB1:NM_153701:exon5:c.530_531del:p.P177Qfs*14,IL12RB1:NM_001290024:exon6:c.650_651del:p.P217Qfs*14",NA,NA,NA,NA,NA,NA
chr20,30381745,30381745,-,A,R007_F,TPX2,Frame_Shift_Ins,NM_012112,exon14,c.1605dupA,p.C536Mfs*6,SNP,SNVindel,exonic,TPX2,NA,frameshift insertion,TPX2:NM_012112:exon14:c.1605dupA:p.C536Mfs*6,NA,NA,NA,NA,NA,NA
chrX,112058967,112058967,G,-,R007_F,AMOT,Frame_Shift_Del,NM_001113490,exon2,c.1011delC,p.L338Wfs*37,SNP,SNVindel,exonic,AMOT,NA,frameshift deletion,AMOT:NM_001113490:exon2:c.1011delC:p.L338Wfs*37,NA,NA,NA,NA,NA,NA
chr1,38512309,38512311,GCC,-,R007_S,POU3F1,In_Frame_Del,NM_002699,exon1,c.105_107del,p.A37del,DEL,SNVindel,exonic,POU3F1,NA,nonframeshift deletion,POU3F1:NM_002699:exon1:c.105_107del:p.A37del,NA,NA,NA,NA,NA,NA
chr1,223567835,223567835,C,-,R007_S,CCDC185,Frame_Shift_Del,NM_152610,exon1,c.1018delC,p.P341Rfs*84,SNP,SNVindel,exonic,CCDC185,NA,frameshift deletion,CCDC185:NM_152610:exon1:c.1018delC:p.P341Rfs*84,NA,NA,NA,NA,NA,NA
chr4,20599961,20599961,G,-,R007_S,SLIT2,Frame_Shift_Del,NM_001289135,exon32,c.3623delG,p.R1210Vfs*60,SNP,SNVindel,exonic,SLIT2,NA,frameshift deletion,"SLIT2:NM_001289135:exon32:c.3623delG:p.R1210Vfs*60,SLIT2:NM_001289136:exon32:c.3611delG:p.R1206Vfs*60,SLIT2:NM_004787:exon33:c.3635delG:p.R1214Vfs*60",NA,NA,NA,NA,NA,NA
chr5,74484347,74484347,C,-,R007_S,ANKRD31,Frame_Shift_Del,NM_001164443,exon10,c.1535delG,p.G512Vfs*20,SNP,SNVindel,exonic,ANKRD31,NA,frameshift deletion,ANKRD31:NM_001164443:exon10:c.1535delG:p.G512Vfs*20,NA,NA,NA,NA,NA,NA
chr6,150001230,150001232,TCA,-,R007_S,LATS1,In_Frame_Del,NM_001350392,exon4,c.1532_1534del,p.M511del,DEL,SNVindel,exonic,LATS1,NA,nonframeshift deletion,"LATS1:NM_001350392:exon4:c.1532_1534del:p.M511del,LATS1:NM_004690:exon5:c.2372_2374del:p.M791del,LATS1:NM_001350339:exon6:c.2057_2059del:p.M686del,LATS1:NM_001350340:exon6:c.2057_2059del:p.M686del",NA,NA,NA,NA,NA,NA
chr7,101833121,101833124,CTGA,-,R007_S,CUX1,Frame_Shift_Del,NM_001202544,exon11,c.1031_1034del,p.D345Mfs*4,DEL,SNVindel,exonic,CUX1,NA,frameshift deletion,"CUX1:NM_001202544:exon11:c.1031_1034del:p.D345Mfs*4,CUX1:NM_001202545:exon11:c.941_944del:p.D315Mfs*4,CUX1:NM_001202546:exon11:c.962_965del:p.D322Mfs*4,CUX1:NM_001202543:exon12:c.1079_1082del:p.D361Mfs*4,CUX1:NM_001913:exon12:c.1079_1082del:p.D361Mfs*4,CUX1:NM_181500:exon12:c.1073_1076del:p.D359Mfs*4,CUX1:NM_181552:exon12:c.1046_1049del:p.D350Mfs*4",NA,NA,NA,NA,NA,NA
chr10,70509285,70509286,GA,-,R007_S,CCAR1,Frame_Shift_Del,NM_001282959,exon9,c.916_917del,p.E310Kfs*3,DEL,SNVindel,exonic,CCAR1,NA,frameshift deletion,"CCAR1:NM_001282959:exon9:c.916_917del:p.E310Kfs*3,CCAR1:NM_001282960:exon9:c.916_917del:p.E310Kfs*3,CCAR1:NM_018237:exon10:c.961_962del:p.E325Kfs*3",NA,NA,NA,NA,NA,NA
chr10,89717695,89717695,-,T,R007_S,PTEN,Nonsense_Mutation,NM_000314,exon7,c.721dupT,p.E242*,SNP,SNVindel,exonic,PTEN,NA,stopgain,"PTEN:NM_000314:exon7:c.721dupT:p.E242*,PTEN:NM_001304718:exon7:c.130dupT:p.E45*,PTEN:NM_001304717:exon8:c.1240dupT:p.E415*",NA,NA,NA,NA,NA,NA
chr13,48937006,48937006,C,-,R007_S,RB1,Frame_Shift_Del,NM_000321,exon8,c.774delC,p.N258Kfs*6,SNP,SNVindel,exonic,RB1,NA,frameshift deletion,RB1:NM_000321:exon8:c.774delC:p.N258Kfs*6,NA,NA,NA,NA,NA,NA
chrX,112058967,112058967,G,-,R007_S,AMOT,Frame_Shift_Del,NM_001113490,exon2,c.1011delC,p.L338Wfs*37,SNP,SNVindel,exonic,AMOT,NA,frameshift deletion,AMOT:NM_001113490:exon2:c.1011delC:p.L338Wfs*37,NA,NA,NA,NA,NA,NA
chr1,62740684,62740684,T,-,R008_F,KANK4,Frame_Shift_Del,NM_181712,exon3,c.92delA,p.Y31Lfs*5,SNP,SNVindel,exonic,KANK4,NA,frameshift deletion,KANK4:NM_181712:exon3:c.92delA:p.Y31Lfs*5,NA,NA,NA,NA,NA,NA
chr17,38279568,38279570,CAG,-,R008_F,MSL1,In_Frame_Del,NM_001365919,exon1,c.703_705del,p.Q239del,DEL,SNVindel,exonic,MSL1,NA,nonframeshift deletion,"MSL1:NM_001365919:exon1:c.703_705del:p.Q239del,MSL1:NM_001365920:exon1:c.703_705del:p.Q239del,MSL1:NM_001365921:exon1:c.703_705del:p.Q239del",NA,NA,NA,NA,NA,NA
chr17,40336501,40336503,GCA,-,R008_F,HCRT,In_Frame_Del,NM_001524,exon2,c.65_67del,p.L22del,DEL,SNVindel,exonic,HCRT,NA,nonframeshift deletion,HCRT:NM_001524:exon2:c.65_67del:p.L22del,NA,NA,NA,NA,NA,NA
chr1,62740684,62740684,T,-,R008_S,KANK4,Frame_Shift_Del,NM_181712,exon3,c.92delA,p.Y31Lfs*5,SNP,SNVindel,exonic,KANK4,NA,frameshift deletion,KANK4:NM_181712:exon3:c.92delA:p.Y31Lfs*5,NA,NA,NA,NA,NA,NA
chr7,100552077,100552077,C,-,R008_S,MUC3A,Frame_Shift_Del,NM_005960,exon4,c.2658delC,p.S887Pfs*25,SNP,SNVindel,exonic,MUC3A,NA,frameshift deletion,MUC3A:NM_005960:exon4:c.2658delC:p.S887Pfs*25,NA,NA,NA,NA,NA,NA
chr17,11659956,11659956,C,-,R008_S,DNAH9,Frame_Shift_Del,NM_001372,exon34,c.6810delC,p.L2271Cfs*28,SNP,SNVindel,exonic,DNAH9,NA,frameshift deletion,DNAH9:NM_001372:exon34:c.6810delC:p.L2271Cfs*28,NA,NA,NA,NA,NA,NA
chr19,49469902,49469908,TGACCAC,-,R008_S,FTL,Nonsense_Mutation,NM_000146,exon4,c.438_444del,p.D147*,DEL,SNVindel,exonic,FTL,NA,stopgain,FTL:NM_000146:exon4:c.438_444del:p.D147*,NA,NA,NA,NA,NA,NA
chr2,55749302,55749305,AGTG,-,R009_F,CFAP36,Frame_Shift_Del,NM_080667,exon2,c.180delA,p.V61Lfs*5,DEL,SNVindel,exonic,CFAP36,NA,frameshift deletion,"CFAP36:NM_080667:exon2:c.180delA:p.V61Lfs*5,CFAP36:NM_001282761:exon3:c.255delA:p.V86Lfs*5",NA,NA,NA,NA,NA,NA
chr2,170929938,170929940,GAA,-,R009_F,UBR3,In_Frame_Del,NM_172070,exon36,c.5020_5022del,p.E1677del,DEL,SNVindel,exonic,UBR3,NA,nonframeshift deletion,UBR3:NM_172070:exon36:c.5020_5022del:p.E1677del,NA,NA,NA,NA,NA,NA
chr3,3887973,3887974,AT,-,R009_F,LRRN1,Frame_Shift_Del,NM_020873,exon2,c.1648_1649del,p.M550Dfs*14,DEL,SNVindel,exonic,LRRN1,NA,frameshift deletion,"LRRN1:NM_020873:exon2:c.1648_1649del:p.M550Dfs*14,LRRN1:NM_001324188:exon3:c.1648_1649del:p.M550Dfs*14,LRRN1:NM_001324189:exon3:c.1648_1649del:p.M550Dfs*14",NA,NA,NA,NA,NA,NA
chr3,99643132,99643133,TA,-,R009_F,FILIP1L,Frame_Shift_Del,NM_001042459,exon4,c.546_547del,p.H182Qfs*8,DEL,SNVindel,exonic,FILIP1L,NA,frameshift deletion,"FILIP1L:NM_001042459:exon4:c.546_547del:p.H182Qfs*8,FILIP1L:NM_182909:exon4:c.546_547del:p.H182Qfs*8",NA,NA,NA,NA,NA,NA
chr3,191078935,191078937,AGA,-,R009_F,CCDC50,In_Frame_Del,NM_174908,exon4,c.317_319del,p.K108del,DEL,SNVindel,exonic,CCDC50,NA,nonframeshift deletion,"CCDC50:NM_174908:exon4:c.317_319del:p.K108del,CCDC50:NM_178335:exon4:c.317_319del:p.K108del",NA,NA,NA,NA,NA,NA
chr6,46658194,46658195,AG,-,R009_F,TDRD6,Frame_Shift_Del,NM_001010870,exon1,c.2329_2330del,p.R777Sfs*5,DEL,SNVindel,exonic,TDRD6,NA,frameshift deletion,"TDRD6:NM_001010870:exon1:c.2329_2330del:p.R777Sfs*5,TDRD6:NM_001168359:exon1:c.2329_2330del:p.R777Sfs*5",NA,NA,NA,NA,NA,NA
chr6,112386134,112386134,G,-,R009_F,CCN6,Frame_Shift_Del,NM_198239,exon3,c.577delG,p.D193Ifs*57,SNP,SNVindel,exonic,CCN6,NA,frameshift deletion,"CCN6:NM_198239:exon3:c.577delG:p.D193Ifs*57,CCN6:NM_003880:exon4:c.523delG:p.D175Ifs*57",NA,NA,NA,NA,NA,NA
chr6,150005286,150005288,AGG,-,R009_F,LATS1,In_Frame_Del,NM_001350392,exon3,c.97_99del,p.P33del,DEL,SNVindel,exonic,LATS1,NA,nonframeshift deletion,"LATS1:NM_001350392:exon3:c.97_99del:p.P33del,LATS1:NM_001270519:exon4:c.937_939del:p.P313del,LATS1:NM_004690:exon4:c.937_939del:p.P313del,LATS1:NM_001350339:exon5:c.622_624del:p.P208del,LATS1:NM_001350340:exon5:c.622_624del:p.P208del",NA,NA,NA,NA,NA,NA
chr7,91660900,91660902,AGA,-,R009_F,AKAP9,In_Frame_Del,NM_005751,exon16,c.4320_4322del,p.E1443del,DEL,SNVindel,exonic,AKAP9,NA,nonframeshift deletion,"AKAP9:NM_005751:exon16:c.4320_4322del:p.E1443del,AKAP9:NM_147185:exon16:c.4320_4322del:p.E1443del",NA,NA,NA,NA,NA,NA
chr7,117060317,117060321,TACTT,-,R009_F,ASZ1,Frame_Shift_Del,NM_001301821,exon4,c.336_340del,p.Q112Hfs*28,DEL,SNVindel,exonic,ASZ1,NA,frameshift deletion,"ASZ1:NM_001301821:exon4:c.336_340del:p.Q112Hfs*28,ASZ1:NM_130768:exon4:c.336_340del:p.Q112Hfs*28",NA,NA,NA,NA,NA,NA
chr7,158672424,158672426,AAG,-,R009_F,WDR60,In_Frame_Del,NM_001350914,exon5,c.485_487del,p.E164del,DEL,SNVindel,exonic,WDR60,NA,nonframeshift deletion,"WDR60:NM_001350914:exon5:c.485_487del:p.E164del,WDR60:NM_001350915:exon5:c.106_108del:p.K38del,WDR60:NM_018051:exon5:c.623_625del:p.E210del",NA,NA,NA,NA,NA,NA
chr11,9424912,9424915,CAGG,-,R009_F,IPO7,Frame_Shift_Del,NM_006391,exon2,c.160_163del,p.A55Vfs*5,DEL,SNVindel,exonic,IPO7,NA,frameshift deletion,IPO7:NM_006391:exon2:c.160_163del:p.A55Vfs*5,NA,NA,NA,NA,NA,NA
chr12,42523636,42523637,AG,-,R009_F,GXYLT1,Frame_Shift_Del,NM_173601,exon2,c.238_239del,p.L80Vfs*12,DEL,SNVindel,exonic,GXYLT1,NA,frameshift deletion,GXYLT1:NM_173601:exon2:c.238_239del:p.L80Vfs*12,NA,NA,NA,NA,NA,NA
chr12,120954465,120954467,TCT,-,R009_F,COQ5,In_Frame_Del,NM_032314,exon3,c.477_479del,p.E159del,DEL,SNVindel,exonic,COQ5,NA,nonframeshift deletion,COQ5:NM_032314:exon3:c.477_479del:p.E159del,NA,NA,NA,NA,NA,NA
chr16,2812648,2812651,TTAG,-,R009_F,SRRM2,Frame_Shift_Del,NM_016333,exon11,c.2119_2122del,p.V708Dfs*41,DEL,SNVindel,exonic,SRRM2,NA,frameshift deletion,SRRM2:NM_016333:exon11:c.2119_2122del:p.V708Dfs*41,NA,NA,NA,NA,NA,NA
chr16,31045645,31045648,GAGT,-,R009_F,STX4,Frame_Shift_Del,NM_004604,exon3,c.231_232del,p.S78Hfs*11,DEL,SNVindel,exonic,STX4,NA,frameshift deletion,"STX4:NM_004604:exon3:c.231_232del:p.S78Hfs*11,STX4:NM_001272096:exon4:c.225_226del:p.S76Hfs*11",NA,NA,NA,NA,NA,NA
chr16,70572295,70572297,TTC,-,R009_F,SF3B3,In_Frame_Del,NM_012426,exon7,c.895_897del,p.F301del,DEL,SNVindel,exonic,SF3B3,NA,nonframeshift deletion,SF3B3:NM_012426:exon7:c.895_897del:p.F301del,NA,NA,NA,NA,NA,NA
chr18,48443799,48443802,TTTG,-,R009_F,ME2,Frame_Shift_Del,NM_001168335,exon6,c.551_554del,p.L186Ifs*27,DEL,SNVindel,exonic,ME2,NA,frameshift deletion,"ME2:NM_001168335:exon6:c.551_554del:p.L186Ifs*27,ME2:NM_002396:exon6:c.551_554del:p.L186Ifs*27",NA,NA,NA,NA,NA,NA
chr19,40542018,40542021,CAAA,-,R009_F,ZNF780B,Frame_Shift_Del,NM_001005851,exon5,c.745_748del,p.F249Nfs*25,DEL,SNVindel,exonic,ZNF780B,NA,frameshift deletion,ZNF780B:NM_001005851:exon5:c.745_748del:p.F249Nfs*25,NA,NA,NA,NA,NA,NA
chrX,76939666,76939669,TCAA,-,R009_F,ATRX,Frame_Shift_Del,NM_138270,exon8,c.965_968del,p.I322Rfs*6,DEL,SNVindel,exonic,ATRX,NA,frameshift deletion,"ATRX:NM_138270:exon8:c.965_968del:p.I322Rfs*6,ATRX:NM_000489:exon9:c.1079_1082del:p.I360Rfs*6",NA,NA,NA,NA,NA,NA
chr1,159032487,159032487,T,-,R009_S,AIM2,Frame_Shift_Del,NM_001348247,exon5,c.712delA,p.T238Hfs*14,SNP,SNVindel,exonic,AIM2,NA,frameshift deletion,"AIM2:NM_001348247:exon5:c.712delA:p.T238Hfs*14,AIM2:NM_004833:exon6:c.1027delA:p.T343Hfs*14",NA,NA,NA,NA,NA,NA
chr1,175375584,175375591,CTGCTCAG,-,R009_S,TNR,Frame_Shift_Del,NM_003285,exon3,c.260_267del,p.A87Gfs*93,DEL,SNVindel,exonic,TNR,NA,frameshift deletion,TNR:NM_003285:exon3:c.260_267del:p.A87Gfs*93,NA,NA,NA,NA,NA,NA
chr1,177927332,177927332,-,G,R009_S,CRYZL2P-SEC16B,Frame_Shift_Ins,NM_001356500,exon9,c.276dupC,p.S93Qfs*14,SNP,SNVindel,exonic,CRYZL2P-SEC16B;SEC16B,NA,frameshift insertion,"SEC16B:NM_001356500:exon9:c.276dupC:p.S93Qfs*14,SEC16B:NM_001356499:exon10:c.1302dupC:p.S435Qfs*14,SEC16B:NM_033127:exon10:c.1299dupC:p.S434Qfs*14,CRYZL2P-SEC16B:NM_001356506:exon16:c.1299dupC:p.S434Qfs*14,CRYZL2P-SEC16B:NM_001356505:exon18:c.1299dupC:p.S434Qfs*14",NA,NA,NA,NA,NA,NA
chr2,55749302,55749305,AGTG,-,R009_S,CFAP36,Frame_Shift_Del,NM_080667,exon2,c.180delA,p.V61Lfs*5,DEL,SNVindel,exonic,CFAP36,NA,frameshift deletion,"CFAP36:NM_080667:exon2:c.180delA:p.V61Lfs*5,CFAP36:NM_001282761:exon3:c.255delA:p.V86Lfs*5",NA,NA,NA,NA,NA,NA
chr2,96861257,96861259,TTC,-,R009_S,STARD7,In_Frame_Del,NM_020151,exon2,c.319_321del,p.E107del,DEL,SNVindel,exonic,STARD7,NA,nonframeshift deletion,STARD7:NM_020151:exon2:c.319_321del:p.E107del,NA,NA,NA,NA,NA,NA
chr2,170929938,170929940,GAA,-,R009_S,UBR3,In_Frame_Del,NM_172070,exon36,c.5020_5022del,p.E1677del,DEL,SNVindel,exonic,UBR3,NA,nonframeshift deletion,UBR3:NM_172070:exon36:c.5020_5022del:p.E1677del,NA,NA,NA,NA,NA,NA
chr3,3887973,3887974,AT,-,R009_S,LRRN1,Frame_Shift_Del,NM_020873,exon2,c.1648_1649del,p.M550Dfs*14,DEL,SNVindel,exonic,LRRN1,NA,frameshift deletion,"LRRN1:NM_020873:exon2:c.1648_1649del:p.M550Dfs*14,LRRN1:NM_001324188:exon3:c.1648_1649del:p.M550Dfs*14,LRRN1:NM_001324189:exon3:c.1648_1649del:p.M550Dfs*14",NA,NA,NA,NA,NA,NA
chr3,14709587,14709587,-,A,R009_S,CCDC174,Frame_Shift_Ins,NM_016474,exon9,c.852dupA,p.E286Gfs*32,SNP,SNVindel,exonic,CCDC174,NA,frameshift insertion,CCDC174:NM_016474:exon9:c.852dupA:p.E286Gfs*32,NA,NA,NA,NA,NA,NA
chr3,99643132,99643133,TA,-,R009_S,FILIP1L,Frame_Shift_Del,NM_001042459,exon4,c.546_547del,p.H182Qfs*8,DEL,SNVindel,exonic,FILIP1L,NA,frameshift deletion,"FILIP1L:NM_001042459:exon4:c.546_547del:p.H182Qfs*8,FILIP1L:NM_182909:exon4:c.546_547del:p.H182Qfs*8",NA,NA,NA,NA,NA,NA
chr3,191078935,191078937,AGA,-,R009_S,CCDC50,In_Frame_Del,NM_174908,exon4,c.317_319del,p.K108del,DEL,SNVindel,exonic,CCDC50,NA,nonframeshift deletion,"CCDC50:NM_174908:exon4:c.317_319del:p.K108del,CCDC50:NM_178335:exon4:c.317_319del:p.K108del",NA,NA,NA,NA,NA,NA
chr6,46658194,46658195,AG,-,R009_S,TDRD6,Frame_Shift_Del,NM_001010870,exon1,c.2329_2330del,p.R777Sfs*5,DEL,SNVindel,exonic,TDRD6,NA,frameshift deletion,"TDRD6:NM_001010870:exon1:c.2329_2330del:p.R777Sfs*5,TDRD6:NM_001168359:exon1:c.2329_2330del:p.R777Sfs*5",NA,NA,NA,NA,NA,NA
chr6,112386134,112386134,G,-,R009_S,CCN6,Frame_Shift_Del,NM_198239,exon3,c.577delG,p.D193Ifs*57,SNP,SNVindel,exonic,CCN6,NA,frameshift deletion,"CCN6:NM_198239:exon3:c.577delG:p.D193Ifs*57,CCN6:NM_003880:exon4:c.523delG:p.D175Ifs*57",NA,NA,NA,NA,NA,NA
chr6,150005286,150005288,AGG,-,R009_S,LATS1,In_Frame_Del,NM_001350392,exon3,c.97_99del,p.P33del,DEL,SNVindel,exonic,LATS1,NA,nonframeshift deletion,"LATS1:NM_001350392:exon3:c.97_99del:p.P33del,LATS1:NM_001270519:exon4:c.937_939del:p.P313del,LATS1:NM_004690:exon4:c.937_939del:p.P313del,LATS1:NM_001350339:exon5:c.622_624del:p.P208del,LATS1:NM_001350340:exon5:c.622_624del:p.P208del",NA,NA,NA,NA,NA,NA
chr7,91660900,91660902,AGA,-,R009_S,AKAP9,In_Frame_Del,NM_005751,exon16,c.4320_4322del,p.E1443del,DEL,SNVindel,exonic,AKAP9,NA,nonframeshift deletion,"AKAP9:NM_005751:exon16:c.4320_4322del:p.E1443del,AKAP9:NM_147185:exon16:c.4320_4322del:p.E1443del",NA,NA,NA,NA,NA,NA
chr7,100349336,100349336,A,-,R009_S,ZAN,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,ZAN,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr7,117060317,117060321,TACTT,-,R009_S,ASZ1,Frame_Shift_Del,NM_001301821,exon4,c.336_340del,p.Q112Hfs*28,DEL,SNVindel,exonic,ASZ1,NA,frameshift deletion,"ASZ1:NM_001301821:exon4:c.336_340del:p.Q112Hfs*28,ASZ1:NM_130768:exon4:c.336_340del:p.Q112Hfs*28",NA,NA,NA,NA,NA,NA
chr7,158672424,158672426,AAG,-,R009_S,WDR60,In_Frame_Del,NM_001350914,exon5,c.485_487del,p.E164del,DEL,SNVindel,exonic,WDR60,NA,nonframeshift deletion,"WDR60:NM_001350914:exon5:c.485_487del:p.E164del,WDR60:NM_001350915:exon5:c.106_108del:p.K38del,WDR60:NM_018051:exon5:c.623_625del:p.E210del",NA,NA,NA,NA,NA,NA
chr8,146068475,146068492,TTATAAATGCAATGACTG,-,R009_S,ZNF7,In_Frame_Del,NM_001349805,exon3,c.1695_1712del,p.Y566_C571del,DEL,SNVindel,exonic,ZNF7,NA,nonframeshift deletion,"ZNF7:NM_001349805:exon3:c.1695_1712del:p.Y566_C571del,ZNF7:NM_001282797:exon4:c.1695_1712del:p.Y566_C571del,ZNF7:NM_001349809:exon4:c.2046_2063del:p.Y683_C688del,ZNF7:NM_001282795:exon5:c.2016_2033del:p.Y673_C678del,ZNF7:NM_001349806:exon5:c.2034_2051del:p.Y679_C684del,ZNF7:NM_001349807:exon5:c.1980_1997del:p.Y661_C666del,ZNF7:NM_001349808:exon5:c.2031_2048del:p.Y678_C683del,ZNF7:NM_003416:exon5:c.1983_2000del:p.Y662_C667del",NA,NA,NA,NA,NA,NA
chr10,32580121,32580123,TGC,-,R009_S,EPC1,In_Frame_Del,NM_001272004,exon6,c.943_945del,p.A315del,DEL,SNVindel,exonic,EPC1,NA,nonframeshift deletion,"EPC1:NM_001272004:exon6:c.943_945del:p.A315del,EPC1:NM_001272019:exon6:c.730_732del:p.A244del,EPC1:NM_001282391:exon6:c.793_795del:p.A265del,EPC1:NM_025209:exon6:c.943_945del:p.A315del",NA,NA,NA,NA,NA,NA
chr11,9424912,9424915,CAGG,-,R009_S,IPO7,Frame_Shift_Del,NM_006391,exon2,c.160_163del,p.A55Vfs*5,DEL,SNVindel,exonic,IPO7,NA,frameshift deletion,IPO7:NM_006391:exon2:c.160_163del:p.A55Vfs*5,NA,NA,NA,NA,NA,NA
chr12,42523636,42523637,AG,-,R009_S,GXYLT1,Frame_Shift_Del,NM_173601,exon2,c.238_239del,p.L80Vfs*12,DEL,SNVindel,exonic,GXYLT1,NA,frameshift deletion,GXYLT1:NM_173601:exon2:c.238_239del:p.L80Vfs*12,NA,NA,NA,NA,NA,NA
chr12,48596608,48596608,A,-,R009_S,OR10AD1,Frame_Shift_Del,NM_001004134,exon1,c.468delT,p.N156Kfs*20,SNP,SNVindel,exonic,OR10AD1,NA,frameshift deletion,OR10AD1:NM_001004134:exon1:c.468delT:p.N156Kfs*20,NA,NA,NA,NA,NA,NA
chr12,120954465,120954467,TCT,-,R009_S,COQ5,In_Frame_Del,NM_032314,exon3,c.477_479del,p.E159del,DEL,SNVindel,exonic,COQ5,NA,nonframeshift deletion,COQ5:NM_032314:exon3:c.477_479del:p.E159del,NA,NA,NA,NA,NA,NA
chr14,72152144,72152144,A,-,R009_S,SIPA1L1,Frame_Shift_Del,NM_001284246,exon10,c.3170delA,p.E1057Dfs*33,SNP,SNVindel,exonic,SIPA1L1,NA,frameshift deletion,"SIPA1L1:NM_001284246:exon10:c.3170delA:p.E1057Dfs*33,SIPA1L1:NM_001284247:exon12:c.3170delA:p.E1057Dfs*33,SIPA1L1:NM_001354285:exon13:c.3170delA:p.E1057Dfs*33,SIPA1L1:NM_001354287:exon13:c.3170delA:p.E1057Dfs*33,SIPA1L1:NM_001354288:exon13:c.3170delA:p.E1057Dfs*33,SIPA1L1:NM_001354289:exon13:c.1688delA:p.E563Dfs*33,SIPA1L1:NM_001354286:exon14:c.3170delA:p.E1057Dfs*33,SIPA1L1:NM_001284245:exon15:c.3170delA:p.E1057Dfs*33,SIPA1L1:NM_015556:exon15:c.3170delA:p.E1057Dfs*33",NA,NA,NA,NA,NA,NA
chr16,2812648,2812651,TTAG,-,R009_S,SRRM2,Frame_Shift_Del,NM_016333,exon11,c.2119_2122del,p.V708Dfs*41,DEL,SNVindel,exonic,SRRM2,NA,frameshift deletion,SRRM2:NM_016333:exon11:c.2119_2122del:p.V708Dfs*41,NA,NA,NA,NA,NA,NA
chr16,7645600,7645600,G,-,R009_S,RBFOX1,Frame_Shift_Del,NM_145891,exon5,c.578delG,p.E194Rfs*8,SNP,SNVindel,exonic,RBFOX1,NA,frameshift deletion,"RBFOX1:NM_145891:exon5:c.578delG:p.E194Rfs*8,RBFOX1:NM_145892:exon5:c.578delG:p.E194Rfs*8,RBFOX1:NM_145893:exon5:c.578delG:p.E194Rfs*8,RBFOX1:NM_001142334:exon6:c.518delG:p.E174Rfs*8,RBFOX1:NM_001142333:exon8:c.518delG:p.E174Rfs*8,RBFOX1:NM_001308117:exon8:c.647delG:p.E217Rfs*8,RBFOX1:NM_001364800:exon8:c.518delG:p.E174Rfs*8,RBFOX1:NM_018723:exon8:c.518delG:p.E174Rfs*8",NA,NA,NA,NA,NA,NA
chr16,31045645,31045648,GAGT,-,R009_S,STX4,Frame_Shift_Del,NM_004604,exon3,c.231_232del,p.S78Hfs*11,DEL,SNVindel,exonic,STX4,NA,frameshift deletion,"STX4:NM_004604:exon3:c.231_232del:p.S78Hfs*11,STX4:NM_001272096:exon4:c.225_226del:p.S76Hfs*11",NA,NA,NA,NA,NA,NA
chr16,70572295,70572297,TTC,-,R009_S,SF3B3,In_Frame_Del,NM_012426,exon7,c.895_897del,p.F301del,DEL,SNVindel,exonic,SF3B3,NA,nonframeshift deletion,SF3B3:NM_012426:exon7:c.895_897del:p.F301del,NA,NA,NA,NA,NA,NA
chr17,74151689,74151689,A,-,R009_S,RNF157,Frame_Shift_Del,NM_001330501,exon15,c.1652delT,p.L551Pfs*21,SNP,SNVindel,exonic,RNF157,NA,frameshift deletion,"RNF157:NM_001330501:exon15:c.1652delT:p.L551Pfs*21,RNF157:NM_052916:exon15:c.1652delT:p.L551Pfs*43",NA,NA,NA,NA,NA,NA
chr18,48443799,48443802,TTTG,-,R009_S,ME2,Frame_Shift_Del,NM_001168335,exon6,c.551_554del,p.L186Ifs*27,DEL,SNVindel,exonic,ME2,NA,frameshift deletion,"ME2:NM_001168335:exon6:c.551_554del:p.L186Ifs*27,ME2:NM_002396:exon6:c.551_554del:p.L186Ifs*27",NA,NA,NA,NA,NA,NA
chr20,3553409,3553411,CTC,-,R009_S,ATRN,In_Frame_Del,NM_001207047,exon12,c.1555_1557del,p.L521del,DEL,SNVindel,exonic,ATRN,NA,nonframeshift deletion,"ATRN:NM_001207047:exon12:c.1555_1557del:p.L521del,ATRN:NM_001323332:exon12:c.1903_1905del:p.L637del,ATRN:NM_139321:exon12:c.1903_1905del:p.L637del,ATRN:NM_139322:exon12:c.1903_1905del:p.L637del",NA,NA,NA,NA,NA,NA
chrX,53222325,53222326,CA,-,R009_S,KDM5C,Nonsense_Mutation,NM_001282622,exon26,c.4503_4504del,p.G1503*,DEL,SNVindel,exonic,KDM5C,NA,stopgain,"KDM5C:NM_001282622:exon26:c.4503_4504del:p.G1503*,KDM5C:NM_001353978:exon26:c.4497_4498del:p.G1501*,KDM5C:NM_004187:exon26:c.4506_4507del:p.G1504*",NA,NA,NA,NA,NA,NA
chrX,76939666,76939669,TCAA,-,R009_S,ATRX,Frame_Shift_Del,NM_138270,exon8,c.965_968del,p.I322Rfs*6,DEL,SNVindel,exonic,ATRX,NA,frameshift deletion,"ATRX:NM_138270:exon8:c.965_968del:p.I322Rfs*6,ATRX:NM_000489:exon9:c.1079_1082del:p.I360Rfs*6",NA,NA,NA,NA,NA,NA
chr17,26731966,26731975,GATCGGTGGT,-,R010_F,SLC46A1,Frame_Shift_Del,NM_001242366,exon2,c.740_749del,p.H247Pfs*18,DEL,SNVindel,exonic,SLC46A1,NA,frameshift deletion,"SLC46A1:NM_001242366:exon2:c.740_749del:p.H247Pfs*18,SLC46A1:NM_080669:exon2:c.740_749del:p.H247Pfs*18",NA,NA,NA,NA,NA,NA
chr1,160090713,160090713,A,-,R010_S,ATP1A2,Frame_Shift_Del,NM_000702,exon2,c.30delA,p.P11Lfs*23,SNP,SNVindel,exonic,ATP1A2,NA,frameshift deletion,ATP1A2:NM_000702:exon2:c.30delA:p.P11Lfs*23,NA,NA,NA,NA,NA,NA
chr1,186024571,186024572,TG,-,R010_S,HMCN1,Frame_Shift_Del,NM_031935,exon45,c.6909_6910del,p.V2304Dfs*11,DEL,SNVindel,exonic,HMCN1,NA,frameshift deletion,HMCN1:NM_031935:exon45:c.6909_6910del:p.V2304Dfs*11,NA,NA,NA,NA,NA,NA
chr2,191851601,191851604,CAGA,-,R010_S,STAT1,Frame_Shift_Del,NM_007315,exon14,c.1197_1200del,p.S399Rfs*10,DEL,SNVindel,exonic,STAT1,NA,frameshift deletion,"STAT1:NM_007315:exon14:c.1197_1200del:p.S399Rfs*10,STAT1:NM_139266:exon14:c.1197_1200del:p.S399Rfs*10",NA,NA,NA,NA,NA,NA
chr2,241516021,241516034,CCAGCCTGACCCGG,-,R010_S,RNPEPL1,Frame_Shift_Del,NM_018226,exon9,c.1580_1593del,p.S528Rfs*24,DEL,SNVindel,exonic,RNPEPL1,NA,frameshift deletion,RNPEPL1:NM_018226:exon9:c.1580_1593del:p.S528Rfs*24,NA,NA,NA,NA,NA,NA
chr4,160264305,160264314,CCCAGTTATC,-,R010_S,RAPGEF2,Frame_Shift_Del,NM_001351727,exon15,c.2610_2619del,p.F870Lfs*16,DEL,SNVindel,exonic,RAPGEF2,NA,frameshift deletion,"RAPGEF2:NM_001351727:exon15:c.2610_2619del:p.F870Lfs*16,RAPGEF2:NM_001351728:exon15:c.2610_2619del:p.F870Lfs*16,RAPGEF2:NM_014247:exon15:c.2610_2619del:p.F870Lfs*16,RAPGEF2:NM_001351725:exon18:c.2745_2754del:p.F915Lfs*16,RAPGEF2:NM_001351726:exon18:c.2745_2754del:p.F915Lfs*16,RAPGEF2:NM_001351724:exon21:c.3093_3102del:p.F1031Lfs*16",NA,NA,NA,NA,NA,NA
chr5,43535704,43535704,T,-,R010_S,PAIP1,Frame_Shift_Del,NM_006451,exon7,c.1011delA,p.G338Efs*17,SNP,SNVindel,exonic,PAIP1,NA,frameshift deletion,"PAIP1:NM_006451:exon7:c.1011delA:p.G338Efs*17,PAIP1:NM_182789:exon7:c.774delA:p.G259Efs*17,PAIP1:NM_183323:exon7:c.675delA:p.G226Efs*17",NA,NA,NA,NA,NA,NA
chr5,52403029,52403031,TCT,-,R010_S,MOCS2,In_Frame_Del,NM_176806,exon3,c.161_163del,p.Q54_I55delinsL,DEL,SNVindel,exonic,MOCS2,NA,nonframeshift deletion,MOCS2:NM_176806:exon3:c.161_163del:p.Q54_I55delinsL,NA,NA,NA,NA,NA,NA
chr5,154202099,154202102,TTGT,-,R010_S,FAXDC2,Frame_Shift_Del,NM_032385,exon7,c.608_611del,p.H203Rfs*12,DEL,SNVindel,exonic,FAXDC2,NA,frameshift deletion,FAXDC2:NM_032385:exon7:c.608_611del:p.H203Rfs*12,NA,NA,NA,NA,NA,NA
chr6,170871038,170871040,CAA,-,R010_S,TBP,In_Frame_Del,NM_001172085,exon2,c.154_156del,p.Q75del,DEL,SNVindel,exonic,TBP,NA,nonframeshift deletion,"TBP:NM_001172085:exon2:c.154_156del:p.Q75del,TBP:NM_003194:exon3:c.214_216del:p.Q95del",NA,NA,NA,NA,NA,NA
chr7,28997015,28997016,CT,-,R010_S,TRIL,Unknown,NA,NA,NA,NA,DEL,SNVindel,exonic,TRIL,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr8,48866910,48866910,T,-,R010_S,PRKDC,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,PRKDC,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr8,143857322,143857332,ACCCAGAGGTA,-,R010_S,LYNX1,In_Frame_Del,NM_001356370,exon2,c.44_52del,p.L15_A18delinsS,DEL,SNVindel,exonic,LYNX1;LYNX1-SLURP2,NA,nonframeshift deletion,"LYNX1:NM_001356370:exon2:c.44_52del:p.L15_A18delinsS,LYNX1-SLURP2:NM_023946:exon2:c.44_52del:p.L15_A18delinsS,LYNX1:NM_177457:exon2:c.44_52del:p.L15_A18delinsS,LYNX1:NM_177476:exon2:c.44_52del:p.L15_A18delinsS,LYNX1:NM_177477:exon2:c.44_52del:p.L15_A18delinsS",NA,NA,NA,NA,NA,NA
chr9,102590388,102590393,TACAGC,-,R010_S,NR4A3,In_Frame_Del,NM_006981,exon3,c.64_69del,p.Y22_S23del,DEL,SNVindel,exonic,NR4A3,NA,nonframeshift deletion,"NR4A3:NM_006981:exon3:c.64_69del:p.Y22_S23del,NR4A3:NM_173199:exon3:c.64_69del:p.Y22_S23del,NR4A3:NM_173200:exon4:c.97_102del:p.Y33_S34del",NA,NA,NA,NA,NA,NA
chr10,95191265,95191265,C,-,R010_S,MYOF,Frame_Shift_Del,NM_013451,exon4,c.245delG,p.G82Afs*5,SNP,SNVindel,exonic,MYOF,NA,frameshift deletion,"MYOF:NM_013451:exon4:c.245delG:p.G82Afs*5,MYOF:NM_133337:exon4:c.245delG:p.G82Afs*5",NA,NA,NA,NA,NA,NA
chr12,121461807,121461807,T,-,R010_S,OASL,Frame_Shift_Del,NM_003733,exon5,c.1033delA,p.S345Afs*4,SNP,SNVindel,exonic,OASL,NA,frameshift deletion,OASL:NM_003733:exon5:c.1033delA:p.S345Afs*4,NA,NA,NA,NA,NA,NA
chr13,99364833,99364833,G,-,R010_S,SLC15A1,Frame_Shift_Del,NM_005073,exon10,c.729delC,p.I244Sfs*40,SNP,SNVindel,exonic,SLC15A1,NA,frameshift deletion,SLC15A1:NM_005073:exon10:c.729delC:p.I244Sfs*40,NA,NA,NA,NA,NA,NA
chr16,31129136,31129137,CC,-,R010_S,KAT8,Frame_Shift_Del,NM_032188,exon1,c.134_135del,p.P46Gfs*22,DEL,SNVindel,exonic,KAT8,NA,frameshift deletion,"KAT8:NM_032188:exon1:c.134_135del:p.P46Gfs*22,KAT8:NM_182958:exon1:c.134_135del:p.P46Gfs*22",NA,NA,NA,NA,NA,NA
chr20,76851,76852,TA,-,R010_S,DEFB125,Frame_Shift_Del,NM_153325,exon2,c.264_265del,p.T89Wfs*9,DEL,SNVindel,exonic,DEFB125,NA,frameshift deletion,DEFB125:NM_153325:exon2:c.264_265del:p.T89Wfs*9,NA,NA,NA,NA,NA,NA
chrX,50125495,50125496,TG,-,R010_S,DGKK,Unknown,NA,NA,NA,NA,DEL,SNVindel,exonic,DGKK,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr1,120612003,120612004,GG,-,R011_F,NOTCH2,Frame_Shift_Del,NM_001200001,exon1,c.17_18del,p.P6Rfs*27,DEL,SNVindel,exonic,NOTCH2,NA,frameshift deletion,"NOTCH2:NM_001200001:exon1:c.17_18del:p.P6Rfs*27,NOTCH2:NM_024408:exon1:c.17_18del:p.P6Rfs*27",NA,NA,NA,NA,NA,NA
chr6,44218172,44218174,AAG,-,R011_F,HSP90AB1,In_Frame_Del,NM_001271969,exon6,c.793_795del,p.K268del,DEL,SNVindel,exonic,HSP90AB1,NA,nonframeshift deletion,"HSP90AB1:NM_001271969:exon6:c.793_795del:p.K268del,HSP90AB1:NM_001271970:exon6:c.793_795del:p.K268del,HSP90AB1:NM_001271971:exon6:c.649_651del:p.K220del,HSP90AB1:NM_001271972:exon6:c.763_765del:p.K258del,HSP90AB1:NM_001371238:exon6:c.793_795del:p.K268del,HSP90AB1:NM_007355:exon6:c.793_795del:p.K268del",NA,NA,NA,NA,NA,NA
chr8,77767464,77767464,C,-,R011_F,ZFHX4,Frame_Shift_Del,NM_024721,exon10,c.8307delC,p.P2770Lfs*12,SNP,SNVindel,exonic,ZFHX4,NA,frameshift deletion,ZFHX4:NM_024721:exon10:c.8307delC:p.P2770Lfs*12,NA,NA,NA,NA,NA,NA
chr16,2049882,2049882,-,TCC,R011_F,ZNF598,In_Frame_Ins,NM_178167,exon11,c.1667_1668insGGA,p.E555_D556insE,INS,SNVindel,exonic,ZNF598,NA,nonframeshift insertion,ZNF598:NM_178167:exon11:c.1667_1668insGGA:p.E555_D556insE,NA,NA,NA,NA,NA,NA
chr17,73752683,73752684,CT,-,R011_F,ITGB4,Frame_Shift_Del,NM_001005619,exon35,c.4831_4832del,p.L1611Vfs*51,DEL,SNVindel,exonic,ITGB4,NA,frameshift deletion,"ITGB4:NM_001005619:exon35:c.4831_4832del:p.L1611Vfs*51,ITGB4:NM_001005731:exon35:c.4672_4673del:p.L1558Vfs*51,ITGB4:NM_001321123:exon35:c.4672_4673del:p.L1558Vfs*51,ITGB4:NM_000213:exon36:c.4882_4883del:p.L1628Vfs*51",NA,NA,NA,NA,NA,NA
chr3,129546680,129546682,GCA,-,R011_S,TMCC1,In_Frame_Del,NM_001128224,exon3,c.198_200del,p.A67del,DEL,SNVindel,exonic,TMCC1,NA,nonframeshift deletion,"TMCC1:NM_001128224:exon3:c.198_200del:p.A67del,TMCC1:NM_001349268:exon3:c.540_542del:p.A181del,TMCC1:NM_001017395:exon4:c.540_542del:p.A181del,TMCC1:NM_001349264:exon4:c.540_542del:p.A181del,TMCC1:NM_001349265:exon4:c.540_542del:p.A181del,TMCC1:NM_001349270:exon4:c.198_200del:p.A67del,TMCC1:NM_001349263:exon5:c.540_542del:p.A181del,TMCC1:NM_001349266:exon5:c.540_542del:p.A181del,TMCC1:NM_001349269:exon5:c.198_200del:p.A67del",NA,NA,NA,NA,NA,NA
chr1,6727803,6727806,TCTC,-,R012_F,DNAJC11,Frame_Shift_Del,NM_018198,exon4,c.341_344del,p.R114Kfs*19,DEL,SNVindel,exonic,DNAJC11,NA,frameshift deletion,DNAJC11:NM_018198:exon4:c.341_344del:p.R114Kfs*19,NA,NA,NA,NA,NA,NA
chr1,38197165,38197165,A,-,R012_F,EPHA10,Frame_Shift_Del,NM_001099439,exon7,c.1581delT,p.Q528Rfs*43,SNP,SNVindel,exonic,EPHA10,NA,frameshift deletion,EPHA10:NM_001099439:exon7:c.1581delT:p.Q528Rfs*43,NA,NA,NA,NA,NA,NA
chr1,61547695,61547696,AA,-,R012_F,NFIA,Frame_Shift_Del,NM_001145512,exon1,c.80_81del,p.S28Lfs*28,DEL,SNVindel,exonic,NFIA,NA,frameshift deletion,NFIA:NM_001145512:exon1:c.80_81del:p.S28Lfs*28,NA,NA,NA,NA,NA,NA
chr2,17698757,17698758,TT,-,R012_F,RAD51AP2,Frame_Shift_Del,NM_001099218,exon1,c.925_926del,p.K309Vfs*4,DEL,SNVindel,exonic,RAD51AP2,NA,frameshift deletion,"RAD51AP2:NM_001099218:exon1:c.925_926del:p.K309Vfs*4,RAD51AP2:NM_001321233:exon5:c.898_899del:p.K300Vfs*4",NA,NA,NA,NA,NA,NA
chr2,30682562,30682563,CA,-,R012_F,LCLAT1,Frame_Shift_Del,NM_182551,exon2,c.84_85del,p.I29Kfs*5,DEL,SNVindel,exonic,LCLAT1,NA,frameshift deletion,LCLAT1:NM_182551:exon2:c.84_85del:p.I29Kfs*5,NA,NA,NA,NA,NA,NA
chr2,160654666,160654667,CC,-,R012_F,CD302,Frame_Shift_Del,NM_001198763,exon1,c.43_44del,p.G15Pfs*43,DEL,SNVindel,exonic,CD302,NA,frameshift deletion,"CD302:NM_001198763:exon1:c.43_44del:p.G15Pfs*43,CD302:NM_001198764:exon1:c.43_44del:p.G15Pfs*16,CD302:NM_014880:exon1:c.43_44del:p.G15Pfs*43",NA,NA,NA,NA,NA,NA
chr2,170531265,170531267,AAG,-,R012_F,CCDC173,In_Frame_Del,NM_001085447,exon4,c.481_483del,p.L161del,DEL,SNVindel,exonic,CCDC173,NA,nonframeshift deletion,CCDC173:NM_001085447:exon4:c.481_483del:p.L161del,NA,NA,NA,NA,NA,NA
chr2,210769545,210769559,CCATCCCCACTGCTA,-,R012_F,UNC80,In_Frame_Del,NM_032504,exon28,c.4440_4454del,p.H1481_Y1485del,DEL,SNVindel,exonic,UNC80,NA,nonframeshift deletion,"UNC80:NM_032504:exon28:c.4440_4454del:p.H1481_Y1485del,UNC80:NM_182587:exon28:c.4425_4439del:p.H1476_Y1480del",NA,NA,NA,NA,NA,NA
chr4,3494970,3494970,C,-,R012_F,DOK7,Frame_Shift_Del,NM_001256896,exon4,c.327delC,p.S112Hfs*34,SNP,SNVindel,exonic,DOK7,NA,frameshift deletion,"DOK7:NM_001256896:exon4:c.327delC:p.S112Hfs*34,DOK7:NM_001363811:exon5:c.825delC:p.S278Hfs*34,DOK7:NM_001301071:exon7:c.1257delC:p.S422Hfs*34,DOK7:NM_173660:exon7:c.1257delC:p.S422Hfs*34",NA,NA,NA,NA,NA,NA
chr4,15589514,15589516,AAG,-,R012_F,CC2D2A,In_Frame_Del,NM_001080522,exon33,c.4141_4143del,p.K1382del,DEL,SNVindel,exonic,CC2D2A,NA,nonframeshift deletion,CC2D2A:NM_001080522:exon33:c.4141_4143del:p.K1382del,NA,NA,NA,NA,NA,NA
chr6,52619858,52619858,A,-,R012_F,GSTA2,Frame_Shift_Del,NM_000846,exon4,c.155delT,p.F52Sfs*12,SNP,SNVindel,exonic,GSTA2,NA,frameshift deletion,GSTA2:NM_000846:exon4:c.155delT:p.F52Sfs*12,NA,NA,NA,NA,NA,NA
chr6,54806507,54806509,CTT,-,R012_F,FAM83B,In_Frame_Del,NM_001010872,exon5,c.2738_2740del,p.S915del,DEL,SNVindel,exonic,FAM83B,NA,nonframeshift deletion,FAM83B:NM_001010872:exon5:c.2738_2740del:p.S915del,NA,NA,NA,NA,NA,NA
chr6,71508370,71508370,A,-,R012_F,SMAP1,Frame_Shift_Del,NM_001281439,exon5,c.425delA,p.K145Rfs*48,SNP,SNVindel,exonic,SMAP1,NA,frameshift deletion,"SMAP1:NM_001281439:exon5:c.425delA:p.K145Rfs*48,SMAP1:NM_021940:exon5:c.425delA:p.K145Rfs*48,SMAP1:NM_001044305:exon6:c.506delA:p.K172Rfs*48,SMAP1:NM_001281440:exon6:c.476delA:p.K162Rfs*48",NA,NA,NA,NA,NA,NA
chr8,61778102,61778103,CT,-,R012_F,CHD7,Frame_Shift_Del,NM_001316690,exon5,c.2457_2458del,p.S820Cfs*71,DEL,SNVindel,exonic,CHD7,NA,frameshift deletion,"CHD7:NM_001316690:exon5:c.2457_2458del:p.S820Cfs*71,CHD7:NM_017780:exon38:c.8604_8605del:p.S2869Cfs*71",NA,NA,NA,NA,NA,NA
chr8,85785582,85785582,C,-,R012_F,RALYL,Frame_Shift_Del,NM_001287243,exon6,c.602delC,p.L202Cfs*2,SNP,SNVindel,exonic,RALYL,NA,frameshift deletion,"RALYL:NM_001287243:exon6:c.602delC:p.L202Cfs*2,RALYL:NM_001287244:exon6:c.416delC:p.L140Cfs*2,RALYL:NM_001354315:exon6:c.602delC:p.L202Cfs*2,RALYL:NM_001354321:exon6:c.641delC:p.L215Cfs*2,RALYL:NM_001354322:exon6:c.641delC:p.L215Cfs*2,RALYL:NM_001100391:exon7:c.674delC:p.L226Cfs*2,RALYL:NM_001100393:exon7:c.635delC:p.L213Cfs*2,RALYL:NM_001354307:exon7:c.602delC:p.L202Cfs*2,RALYL:NM_001354310:exon7:c.371delC:p.L125Cfs*2,RALYL:NM_001354311:exon7:c.635delC:p.L213Cfs*2,RALYL:NM_001354312:exon7:c.602delC:p.L202Cfs*2,RALYL:NM_001354313:exon7:c.635delC:p.L213Cfs*2,RALYL:NM_001354314:exon7:c.635delC:p.L213Cfs*2,RALYL:NM_001354317:exon7:c.602delC:p.L202Cfs*2,RALYL:NM_001354318:exon7:c.602delC:p.L202Cfs*2,RALYL:NM_001354323:exon7:c.674delC:p.L226Cfs*2,RALYL:NM_001354325:exon7:c.635delC:p.L213Cfs*2,RALYL:NM_173848:exon7:c.635delC:p.L213Cfs*2,RALYL:NM_001100392:exon8:c.635delC:p.L213Cfs*2,RALYL:NM_001354308:exon8:c.635delC:p.L213Cfs*2,RALYL:NM_001354309:exon8:c.602delC:p.L202Cfs*2,RALYL:NM_001354316:exon8:c.635delC:p.L213Cfs*2,RALYL:NM_001354319:exon8:c.635delC:p.L213Cfs*2,RALYL:NM_001354320:exon8:c.635delC:p.L213Cfs*2,RALYL:NM_001354305:exon9:c.635delC:p.L213Cfs*2,RALYL:NM_001354306:exon9:c.635delC:p.L213Cfs*2",NA,NA,NA,NA,NA,NA
chr9,95036715,95036718,AAGT,-,R012_F,IARS,Frame_Shift_Del,NM_002161,exon10,c.980_983del,p.Y327Sfs*35,DEL,SNVindel,exonic,IARS,NA,frameshift deletion,"IARS:NM_002161:exon10:c.980_983del:p.Y327Sfs*35,IARS:NM_013417:exon10:c.980_983del:p.Y327Sfs*35",NA,NA,NA,NA,NA,NA
chr10,21805301,21805303,AAG,-,R012_F,SKIDA1,In_Frame_Del,NM_207371,exon4,c.1449_1451del,p.F483del,DEL,SNVindel,exonic,SKIDA1,NA,nonframeshift deletion,SKIDA1:NM_207371:exon4:c.1449_1451del:p.F483del,NA,NA,NA,NA,NA,NA
chr10,91098556,91098556,-,T,R012_F,IFIT3,Frame_Shift_Ins,NM_001031683,exon2,c.145dupT,p.K50Qfs*17,SNP,SNVindel,exonic,IFIT3,NA,frameshift insertion,"IFIT3:NM_001031683:exon2:c.145dupT:p.K50Qfs*17,IFIT3:NM_001549:exon2:c.145dupT:p.K50Qfs*17",NA,NA,NA,NA,NA,NA
chr11,67167044,67167046,AGA,-,R012_F,PPP1CA,In_Frame_Del,NM_206873,exon3,c.377_379del,p.F126del,DEL,SNVindel,exonic,PPP1CA,NA,nonframeshift deletion,"PPP1CA:NM_206873:exon3:c.377_379del:p.F126del,PPP1CA:NM_001008709:exon4:c.542_544del:p.F181del,PPP1CA:NM_002708:exon4:c.509_511del:p.F170del",NA,NA,NA,NA,NA,NA
chr12,15103507,15103510,TTAA,-,R012_F,ARHGDIB,Frame_Shift_Del,NM_001175,exon2,c.137_140del,p.I46Sfs*13,DEL,SNVindel,exonic,ARHGDIB,NA,frameshift deletion,"ARHGDIB:NM_001175:exon2:c.137_140del:p.I46Sfs*13,ARHGDIB:NM_001321421:exon2:c.137_140del:p.I46Sfs*13,ARHGDIB:NM_001321422:exon2:c.137_140del:p.I46Sfs*13,ARHGDIB:NM_001321423:exon2:c.137_140del:p.I46Sfs*13,ARHGDIB:NM_001321420:exon3:c.137_140del:p.I46Sfs*13",NA,NA,NA,NA,NA,NA
chr12,49061524,49061526,CAT,-,R012_F,KANSL2,In_Frame_Del,NM_017822,exon7,c.923_925del,p.D308del,DEL,SNVindel,exonic,KANSL2,NA,nonframeshift deletion,KANSL2:NM_017822:exon7:c.923_925del:p.D308del,NA,NA,NA,NA,NA,NA
chr16,2523947,2523947,G,-,R012_F,NTN3,Frame_Shift_Del,NM_006181,exon6,c.1584delG,p.G530Afs*65,SNP,SNVindel,exonic,NTN3,NA,frameshift deletion,NTN3:NM_006181:exon6:c.1584delG:p.G530Afs*65,NA,NA,NA,NA,NA,NA
chr16,12758944,12758946,GTA,-,R012_F,CPPED1,In_Frame_Del,NM_001099455,exon3,c.316_318del,p.Y106del,DEL,SNVindel,exonic,CPPED1,NA,nonframeshift deletion,"CPPED1:NM_001099455:exon3:c.316_318del:p.Y106del,CPPED1:NM_018340:exon4:c.742_744del:p.Y248del",NA,NA,NA,NA,NA,NA
chr17,70117573,70117575,AGG,-,R012_F,SOX9,In_Frame_Del,NM_000346,exon1,c.41_43del,p.E15del,DEL,SNVindel,exonic,SOX9,NA,nonframeshift deletion,SOX9:NM_000346:exon1:c.41_43del:p.E15del,NA,NA,NA,NA,NA,NA
chr20,4850569,4850569,G,-,R012_F,SLC23A2,Frame_Shift_Del,NM_005116,exon12,c.1233delC,p.I412Sfs*4,SNP,SNVindel,exonic,SLC23A2,NA,frameshift deletion,"SLC23A2:NM_005116:exon12:c.1233delC:p.I412Sfs*4,SLC23A2:NM_203327:exon12:c.1233delC:p.I412Sfs*4",NA,NA,NA,NA,NA,NA
chr20,31024631,31024632,TT,-,R012_F,ASXL1,Frame_Shift_Del,NM_001363734,exon11,c.3933_3934del,p.F1312Cfs*6,DEL,SNVindel,exonic,ASXL1,NA,frameshift deletion,"ASXL1:NM_001363734:exon11:c.3933_3934del:p.F1312Cfs*6,ASXL1:NM_015338:exon12:c.4116_4117del:p.F1373Cfs*6",NA,NA,NA,NA,NA,NA
chrX,76938452,76938455,CATA,-,R012_F,ATRX,Frame_Shift_Del,NM_138270,exon8,c.2179_2182del,p.Y727Ifs*2,DEL,SNVindel,exonic,ATRX,NA,frameshift deletion,"ATRX:NM_138270:exon8:c.2179_2182del:p.Y727Ifs*2,ATRX:NM_000489:exon9:c.2293_2296del:p.Y765Ifs*2",NA,NA,NA,NA,NA,NA
chr1,6727803,6727806,TCTC,-,R012_S,DNAJC11,Frame_Shift_Del,NM_018198,exon4,c.341_344del,p.R114Kfs*19,DEL,SNVindel,exonic,DNAJC11,NA,frameshift deletion,DNAJC11:NM_018198:exon4:c.341_344del:p.R114Kfs*19,NA,NA,NA,NA,NA,NA
chr1,61547695,61547696,AA,-,R012_S,NFIA,Frame_Shift_Del,NM_001145512,exon1,c.80_81del,p.S28Lfs*28,DEL,SNVindel,exonic,NFIA,NA,frameshift deletion,NFIA:NM_001145512:exon1:c.80_81del:p.S28Lfs*28,NA,NA,NA,NA,NA,NA
chr1,224544635,224544637,GGT,-,R012_S,CNIH4,In_Frame_Del,NM_001277197,exon1,c.9_11del,p.V5del,DEL,SNVindel,exonic,CNIH4,NA,nonframeshift deletion,"CNIH4:NM_001277197:exon1:c.9_11del:p.V5del,CNIH4:NM_001277198:exon1:c.9_11del:p.V5del,CNIH4:NM_001277200:exon1:c.9_11del:p.V5del,CNIH4:NM_014184:exon1:c.9_11del:p.V5del",NA,NA,NA,NA,NA,NA
chr2,170531265,170531267,AAG,-,R012_S,CCDC173,In_Frame_Del,NM_001085447,exon4,c.481_483del,p.L161del,DEL,SNVindel,exonic,CCDC173,NA,nonframeshift deletion,CCDC173:NM_001085447:exon4:c.481_483del:p.L161del,NA,NA,NA,NA,NA,NA
chr2,210769545,210769559,CCATCCCCACTGCTA,-,R012_S,UNC80,In_Frame_Del,NM_032504,exon28,c.4440_4454del,p.H1481_Y1485del,DEL,SNVindel,exonic,UNC80,NA,nonframeshift deletion,"UNC80:NM_032504:exon28:c.4440_4454del:p.H1481_Y1485del,UNC80:NM_182587:exon28:c.4425_4439del:p.H1476_Y1480del",NA,NA,NA,NA,NA,NA
chr7,151945593,151945598,TTGATC,-,R012_S,KMT2C,In_Frame_Del,NM_170606,exon14,c.1921_1926del,p.D641_Q642del,DEL,SNVindel,exonic,KMT2C,NA,nonframeshift deletion,KMT2C:NM_170606:exon14:c.1921_1926del:p.D641_Q642del,NA,NA,NA,NA,NA,NA
chr8,61778102,61778103,CT,-,R012_S,CHD7,Frame_Shift_Del,NM_001316690,exon5,c.2457_2458del,p.S820Cfs*71,DEL,SNVindel,exonic,CHD7,NA,frameshift deletion,"CHD7:NM_001316690:exon5:c.2457_2458del:p.S820Cfs*71,CHD7:NM_017780:exon38:c.8604_8605del:p.S2869Cfs*71",NA,NA,NA,NA,NA,NA
chr8,96044305,96044311,AATGTGG,-,R012_S,NDUFAF6,Translation_Start_Site,NM_001330582,exon2,c.1_6del,p.M1?,DEL,SNVindel,exonic,NDUFAF6,NA,startloss,"NDUFAF6:NM_001330582:exon2:c.1_6del:p.M1?,NDUFAF6:NM_001354521:exon2:c.1_6del:p.M1?,NDUFAF6:NM_152416:exon2:c.280_286del:p.V95Wfs*15,NDUFAF6:NM_001354515:exon3:c.1_6del:p.M1?,NDUFAF6:NM_001354516:exon4:c.124_130del:p.V43Wfs*15,NDUFAF6:NM_001354514:exon5:c.1_6del:p.M1?",NA,NA,NA,NA,NA,NA
chr9,139699816,139699817,AA,-,R012_S,CCDC183,Frame_Shift_Del,NM_001039374,exon9,c.855_856del,p.K286Rfs*34,DEL,SNVindel,exonic,CCDC183,NA,frameshift deletion,CCDC183:NM_001039374:exon9:c.855_856del:p.K286Rfs*34,NA,NA,NA,NA,NA,NA
chr10,21805301,21805303,AAG,-,R012_S,SKIDA1,In_Frame_Del,NM_207371,exon4,c.1449_1451del,p.F483del,DEL,SNVindel,exonic,SKIDA1,NA,nonframeshift deletion,SKIDA1:NM_207371:exon4:c.1449_1451del:p.F483del,NA,NA,NA,NA,NA,NA
chr10,91098556,91098556,-,T,R012_S,IFIT3,Frame_Shift_Ins,NM_001031683,exon2,c.145dupT,p.K50Qfs*17,SNP,SNVindel,exonic,IFIT3,NA,frameshift insertion,"IFIT3:NM_001031683:exon2:c.145dupT:p.K50Qfs*17,IFIT3:NM_001549:exon2:c.145dupT:p.K50Qfs*17",NA,NA,NA,NA,NA,NA
chr10,113919691,113919692,GA,-,R012_S,GPAM,Frame_Shift_Del,NM_001244949,exon17,c.1879_1880del,p.S627Qfs*2,DEL,SNVindel,exonic,GPAM,NA,frameshift deletion,"GPAM:NM_001244949:exon17:c.1879_1880del:p.S627Qfs*2,GPAM:NM_020918:exon17:c.1879_1880del:p.S627Qfs*2",NA,NA,NA,NA,NA,NA
chr11,67167044,67167046,AGA,-,R012_S,PPP1CA,In_Frame_Del,NM_206873,exon3,c.377_379del,p.F126del,DEL,SNVindel,exonic,PPP1CA,NA,nonframeshift deletion,"PPP1CA:NM_206873:exon3:c.377_379del:p.F126del,PPP1CA:NM_001008709:exon4:c.542_544del:p.F181del,PPP1CA:NM_002708:exon4:c.509_511del:p.F170del",NA,NA,NA,NA,NA,NA
chr11,117053458,117053460,ACA,-,R012_S,SIDT2,In_Frame_Del,NM_001040455,exon6,c.638_640del,p.N215del,DEL,SNVindel,exonic,SIDT2,NA,nonframeshift deletion,SIDT2:NM_001040455:exon6:c.638_640del:p.N215del,NA,NA,NA,NA,NA,NA
chr12,15103507,15103510,TTAA,-,R012_S,ARHGDIB,Frame_Shift_Del,NM_001175,exon2,c.137_140del,p.I46Sfs*13,DEL,SNVindel,exonic,ARHGDIB,NA,frameshift deletion,"ARHGDIB:NM_001175:exon2:c.137_140del:p.I46Sfs*13,ARHGDIB:NM_001321421:exon2:c.137_140del:p.I46Sfs*13,ARHGDIB:NM_001321422:exon2:c.137_140del:p.I46Sfs*13,ARHGDIB:NM_001321423:exon2:c.137_140del:p.I46Sfs*13,ARHGDIB:NM_001321420:exon3:c.137_140del:p.I46Sfs*13",NA,NA,NA,NA,NA,NA
chr12,49061524,49061526,CAT,-,R012_S,KANSL2,In_Frame_Del,NM_017822,exon7,c.923_925del,p.D308del,DEL,SNVindel,exonic,KANSL2,NA,nonframeshift deletion,KANSL2:NM_017822:exon7:c.923_925del:p.D308del,NA,NA,NA,NA,NA,NA
chr12,85285663,85285663,T,-,R012_S,SLC6A15,Frame_Shift_Del,NM_018057,exon2,c.237delA,p.G80Vfs*2,SNP,SNVindel,exonic,SLC6A15,NA,frameshift deletion,"SLC6A15:NM_018057:exon2:c.237delA:p.G80Vfs*2,SLC6A15:NM_182767:exon2:c.237delA:p.G80Vfs*2",NA,NA,NA,NA,NA,NA
chr12,122017928,122017930,TCT,-,R012_S,KDM2B,In_Frame_Del,NM_001005366,exon1,c.28_30del,p.R10del,DEL,SNVindel,exonic,KDM2B,NA,nonframeshift deletion,KDM2B:NM_001005366:exon1:c.28_30del:p.R10del,NA,NA,NA,NA,NA,NA
chr16,2523947,2523947,G,-,R012_S,NTN3,Frame_Shift_Del,NM_006181,exon6,c.1584delG,p.G530Afs*65,SNP,SNVindel,exonic,NTN3,NA,frameshift deletion,NTN3:NM_006181:exon6:c.1584delG:p.G530Afs*65,NA,NA,NA,NA,NA,NA
chr16,12758944,12758946,GTA,-,R012_S,CPPED1,In_Frame_Del,NM_001099455,exon3,c.316_318del,p.Y106del,DEL,SNVindel,exonic,CPPED1,NA,nonframeshift deletion,"CPPED1:NM_001099455:exon3:c.316_318del:p.Y106del,CPPED1:NM_018340:exon4:c.742_744del:p.Y248del",NA,NA,NA,NA,NA,NA
chr19,17316777,17316777,A,-,R012_S,MYO9B,Frame_Shift_Del,NM_001130065,exon32,c.5073delA,p.G1692Afs*11,SNP,SNVindel,exonic,MYO9B,NA,frameshift deletion,"MYO9B:NM_001130065:exon32:c.5073delA:p.G1692Afs*11,MYO9B:NM_004145:exon32:c.5073delA:p.G1692Afs*11",NA,NA,NA,NA,NA,NA
chr19,42791365,42791366,GT,-,R012_S,CIC,Frame_Shift_Del,NM_015125,exon3,c.425_426del,p.S142Rfs*5,DEL,SNVindel,exonic,CIC,NA,frameshift deletion,"CIC:NM_015125:exon3:c.425_426del:p.S142Rfs*5,CIC:NM_001304815:exon4:c.3152_3153del:p.S1051Rfs*5",NA,NA,NA,NA,NA,NA
chr20,31024631,31024632,TT,-,R012_S,ASXL1,Frame_Shift_Del,NM_001363734,exon11,c.3933_3934del,p.F1312Cfs*6,DEL,SNVindel,exonic,ASXL1,NA,frameshift deletion,"ASXL1:NM_001363734:exon11:c.3933_3934del:p.F1312Cfs*6,ASXL1:NM_015338:exon12:c.4116_4117del:p.F1373Cfs*6",NA,NA,NA,NA,NA,NA
chr22,22221699,22221700,GG,-,R012_S,MAPK1,Frame_Shift_Del,NM_002745,exon1,c.31_32del,p.P11Gfs*33,DEL,SNVindel,exonic,MAPK1,NA,frameshift deletion,"MAPK1:NM_002745:exon1:c.31_32del:p.P11Gfs*33,MAPK1:NM_138957:exon1:c.31_32del:p.P11Gfs*33",NA,NA,NA,NA,NA,NA
chrX,76938452,76938455,CATA,-,R012_S,ATRX,Frame_Shift_Del,NM_138270,exon8,c.2179_2182del,p.Y727Ifs*2,DEL,SNVindel,exonic,ATRX,NA,frameshift deletion,"ATRX:NM_138270:exon8:c.2179_2182del:p.Y727Ifs*2,ATRX:NM_000489:exon9:c.2293_2296del:p.Y765Ifs*2",NA,NA,NA,NA,NA,NA
chr2,155099398,155099398,G,-,R013_S,GALNT13,Frame_Shift_Del,NM_001301627,exon4,c.666delG,p.A223Qfs*3,SNP,SNVindel,exonic,GALNT13,NA,frameshift deletion,"GALNT13:NM_001301627:exon4:c.666delG:p.A223Qfs*3,GALNT13:NM_052917:exon6:c.666delG:p.A223Qfs*3",NA,NA,NA,NA,NA,NA
chr2,238270447,238270451,CACAG,-,R013_S,COL6A3,Frame_Shift_Del,NM_057166,exon12,c.4266_4270del,p.C1422Wfs*36,DEL,SNVindel,exonic,COL6A3,NA,frameshift deletion,"COL6A3:NM_057166:exon12:c.4266_4270del:p.C1422Wfs*36,COL6A3:NM_057167:exon14:c.5469_5473del:p.C1823Wfs*36,COL6A3:NM_004369:exon15:c.6087_6091del:p.C2029Wfs*36",NA,NA,NA,NA,NA,NA
chr3,101540766,101540768,TTC,-,R013_S,NXPE3,In_Frame_Del,NM_001348996,exon7,c.1441_1443del,p.F481del,DEL,SNVindel,exonic,NXPE3,NA,nonframeshift deletion,"NXPE3:NM_001348996:exon7:c.1441_1443del:p.F481del,NXPE3:NM_001348997:exon7:c.1441_1443del:p.F481del,NXPE3:NM_001348998:exon7:c.1441_1443del:p.F481del,NXPE3:NM_001134456:exon8:c.1648_1650del:p.F550del,NXPE3:NM_001348990:exon8:c.1648_1650del:p.F550del,NXPE3:NM_001348991:exon8:c.1648_1650del:p.F550del,NXPE3:NM_001348995:exon8:c.1648_1650del:p.F550del,NXPE3:NM_145037:exon8:c.1648_1650del:p.F550del,NXPE3:NM_001348992:exon9:c.1648_1650del:p.F550del,NXPE3:NM_001348993:exon9:c.1648_1650del:p.F550del,NXPE3:NM_001348994:exon9:c.1648_1650del:p.F550del",NA,NA,NA,NA,NA,NA
chr18,55218559,55218559,-,A,R013_S,FECH,Frame_Shift_Ins,NM_001371094,exon9,c.1025_1026insT,p.L343Ifs*4,SNP,SNVindel,exonic,FECH,NA,frameshift insertion,"FECH:NM_001371094:exon9:c.1025_1026insT:p.L343Ifs*4,FECH:NM_000140:exon10:c.1124_1125insT:p.L376Ifs*4,FECH:NM_001012515:exon10:c.1142_1143insT:p.L382Ifs*4,FECH:NM_001371095:exon11:c.908_909insT:p.L304Ifs*4",NA,NA,NA,NA,NA,NA
chr18,46447925,46447936,GATGGAGAAACC,-,R014_F,SMAD7,In_Frame_Del,NM_001190823,exon2,c.523_534del,p.G175_I178del,DEL,SNVindel,exonic,SMAD7,NA,nonframeshift deletion,"SMAD7:NM_001190823:exon2:c.523_534del:p.G175_I178del,SMAD7:NM_001190821:exon4:c.1084_1095del:p.G362_I365del,SMAD7:NM_001190822:exon4:c.442_453del:p.G148_I151del,SMAD7:NM_005904:exon4:c.1087_1098del:p.G363_I366del",NA,NA,NA,NA,NA,NA
chr3,141326575,141326575,G,-,R014_S,RASA2,Frame_Shift_Del,NM_001303245,exon20,c.1992delG,p.E665Kfs*13,SNP,SNVindel,exonic,RASA2,NA,frameshift deletion,"RASA2:NM_001303245:exon20:c.1992delG:p.E665Kfs*13,RASA2:NM_006506:exon20:c.1989delG:p.E664Kfs*13,RASA2:NM_001303246:exon21:c.2001delG:p.E668Kfs*13",NA,NA,NA,NA,NA,NA
chr4,148594219,148594224,TGGTCT,-,R014_S,PRMT9,In_Frame_Del,NM_001304458,exon3,c.290_295del,p.K97_T98del,DEL,SNVindel,exonic,PRMT9,NA,nonframeshift deletion,"PRMT9:NM_001304458:exon3:c.290_295del:p.K97_T98del,PRMT9:NM_138364:exon4:c.629_634del:p.K210_T211del,PRMT9:NM_001350142:exon5:c.290_295del:p.K97_T98del",NA,NA,NA,NA,NA,NA
chr11,72091350,72091358,CTTGGCAGT,-,R014_S,CLPB,In_Frame_Del,NM_001258393,exon3,c.526_534del,p.T176_K178del,DEL,SNVindel,exonic,CLPB,NA,nonframeshift deletion,"CLPB:NM_001258393:exon3:c.526_534del:p.T176_K178del,CLPB:NM_001258392:exon4:c.613_621del:p.T205_K207del,CLPB:NM_030813:exon4:c.613_621del:p.T205_K207del,CLPB:NM_001258394:exon5:c.478_486del:p.T160_K162del",NA,NA,NA,NA,NA,NA
chr12,52188244,52188244,A,-,R014_S,SCN8A,Nonsense_Mutation,NM_001177984,exon25,c.4491delA,p.M1498*,SNP,SNVindel,exonic,SCN8A,NA,stopgain,"SCN8A:NM_001177984:exon25:c.4491delA:p.M1498*,SCN8A:NM_001369788:exon25:c.4491delA:p.M1498*,SCN8A:NM_001330260:exon26:c.4614delA:p.M1539*,SCN8A:NM_014191:exon26:c.4614delA:p.M1539*",NA,NA,NA,NA,NA,NA
chr16,68208380,68208384,TCCAG,-,R014_S,NFATC3,Frame_Shift_Del,NM_004555,exon6,c.1878_1882del,p.P627Ifs*7,DEL,SNVindel,exonic,NFATC3,NA,frameshift deletion,"NFATC3:NM_004555:exon6:c.1878_1882del:p.P627Ifs*7,NFATC3:NM_173163:exon6:c.1878_1882del:p.P627Ifs*7,NFATC3:NM_173165:exon6:c.1878_1882del:p.P627Ifs*7",NA,NA,NA,NA,NA,NA
chr18,46447925,46447936,GATGGAGAAACC,-,R014_S,SMAD7,In_Frame_Del,NM_001190823,exon2,c.523_534del,p.G175_I178del,DEL,SNVindel,exonic,SMAD7,NA,nonframeshift deletion,"SMAD7:NM_001190823:exon2:c.523_534del:p.G175_I178del,SMAD7:NM_001190821:exon4:c.1084_1095del:p.G362_I365del,SMAD7:NM_001190822:exon4:c.442_453del:p.G148_I151del,SMAD7:NM_005904:exon4:c.1087_1098del:p.G363_I366del",NA,NA,NA,NA,NA,NA
chr11,124189181,124189183,TCA,-,R015_F,OR8D2,In_Frame_Del,NM_001002918,exon1,c.911_913del,p.M304del,DEL,SNVindel,exonic,OR8D2,NA,nonframeshift deletion,OR8D2:NM_001002918:exon1:c.911_913del:p.M304del,NA,NA,NA,NA,NA,NA
chr1,24857848,24857848,C,-,R015_S,RCAN3,Frame_Shift_Del,NM_001251980,exon2,c.336delC,p.F112Lfs*6,SNP,SNVindel,exonic,RCAN3,NA,frameshift deletion,"RCAN3:NM_001251980:exon2:c.336delC:p.F112Lfs*6,RCAN3:NM_001251982:exon2:c.336delC:p.F112Lfs*6,RCAN3:NM_001251977:exon3:c.336delC:p.F112Lfs*6,RCAN3:NM_001251978:exon3:c.336delC:p.F112Lfs*6,RCAN3:NM_001251979:exon3:c.336delC:p.F112Lfs*6,RCAN3:NM_013441:exon3:c.336delC:p.F112Lfs*6",NA,NA,NA,NA,NA,NA
chr1,159828568,159828568,-,CTCG,R015_S,VSIG8,Frame_Shift_Ins,NM_001013661,exon2,c.183_184insCGAG,p.W62Rfs*19,INS,SNVindel,exonic,VSIG8,NA,frameshift insertion,VSIG8:NM_001013661:exon2:c.183_184insCGAG:p.W62Rfs*19,NA,NA,NA,NA,NA,NA
chr1,205053394,205053394,G,-,R015_S,TMEM81,Frame_Shift_Del,NM_203376,exon1,c.55delC,p.L19Cfs*5,SNP,SNVindel,exonic,TMEM81,NA,frameshift deletion,TMEM81:NM_203376:exon1:c.55delC:p.L19Cfs*5,NA,NA,NA,NA,NA,NA
chr8,39604124,39604124,G,-,R015_S,ADAM2,Frame_Shift_Del,NM_001278113,exon18,c.1984delC,p.H662Ifs*5,SNP,SNVindel,exonic,ADAM2,NA,frameshift deletion,"ADAM2:NM_001278113:exon18:c.1984delC:p.H662Ifs*5,ADAM2:NM_001278114:exon18:c.1852delC:p.H618Ifs*5,ADAM2:NM_001464:exon19:c.2041delC:p.H681Ifs*5",NA,NA,NA,NA,NA,NA
chr9,35650588,35650593,CCCTAA,-,R015_S,SIT1,In_Frame_Del,NM_014450,exon2,c.142_147del,p.L48_G49del,DEL,SNVindel,exonic,SIT1,NA,nonframeshift deletion,SIT1:NM_014450:exon2:c.142_147del:p.L48_G49del,NA,NA,NA,NA,NA,NA
chr10,46122521,46122521,T,-,R015_S,ZFAND4,Frame_Shift_Del,NM_001128324,exon7,c.750delA,p.P251Lfs*2,SNP,SNVindel,exonic,ZFAND4,NA,frameshift deletion,"ZFAND4:NM_001128324:exon7:c.750delA:p.P251Lfs*2,ZFAND4:NM_174890:exon7:c.750delA:p.P251Lfs*2,ZFAND4:NM_001282905:exon8:c.528delA:p.P177Lfs*2,ZFAND4:NM_001282906:exon8:c.528delA:p.P177Lfs*2",NA,NA,NA,NA,NA,NA
chr10,60148570,60148570,A,-,R015_S,TFAM,Frame_Shift_Del,NM_001270782,exon4,c.432delA,p.E148Kfs*3,SNP,SNVindel,exonic,TFAM,NA,frameshift deletion,"TFAM:NM_001270782:exon4:c.432delA:p.E148Kfs*3,TFAM:NM_003201:exon4:c.432delA:p.E148Sfs*2",NA,NA,NA,NA,NA,NA
chr11,124189181,124189183,TCA,-,R015_S,OR8D2,In_Frame_Del,NM_001002918,exon1,c.911_913del,p.M304del,DEL,SNVindel,exonic,OR8D2,NA,nonframeshift deletion,OR8D2:NM_001002918:exon1:c.911_913del:p.M304del,NA,NA,NA,NA,NA,NA
chr16,150398,150414,CCTCTGGGGGGATCAGA,-,R015_S,NPRL3,Unknown,NA,NA,NA,NA,DEL,SNVindel,exonic,NPRL3,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr17,48543123,48543123,G,-,R015_S,CHAD,Frame_Shift_Del,NM_001267,exon2,c.883delC,p.L295Sfs*101,SNP,SNVindel,exonic,CHAD,NA,frameshift deletion,CHAD:NM_001267:exon2:c.883delC:p.L295Sfs*101,NA,NA,NA,NA,NA,NA
chr11,2906592,2906598,CTCAGCT,-,R016_F,CDKN1C,Frame_Shift_Del,NM_000076,exon1,c.122_128del,p.E41Afs*11,DEL,SNVindel,exonic,CDKN1C,NA,frameshift deletion,"CDKN1C:NM_000076:exon1:c.122_128del:p.E41Afs*11,CDKN1C:NM_001362474:exon1:c.122_128del:p.E41Afs*11,CDKN1C:NM_001122630:exon2:c.89_95del:p.E30Afs*11,CDKN1C:NM_001122631:exon2:c.89_95del:p.E30Afs*11,CDKN1C:NM_001362475:exon2:c.89_95del:p.E30Afs*11",NA,NA,NA,NA,NA,NA
chr12,122242657,122242657,-,C,R016_F,SETD1B,Frame_Shift_Ins,NM_001353345,exon1,c.15dupC,p.H8Pfs*30,SNP,SNVindel,exonic,SETD1B,NA,frameshift insertion,SETD1B:NM_001353345:exon1:c.15dupC:p.H8Pfs*30,NA,NA,NA,NA,NA,NA
chr17,79612316,79612316,-,G,R016_F,TSPAN10,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TSPAN10,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr2,101185411,101185425,TGACTTTGGAAGAGC,-,R016_S,PDCL3,In_Frame_Del,NM_024065,exon3,c.152_166del,p.T52_L56del,DEL,SNVindel,exonic,PDCL3,NA,nonframeshift deletion,PDCL3:NM_024065:exon3:c.152_166del:p.T52_L56del,NA,NA,NA,NA,NA,NA
chr2,231134267,231134270,CACC,-,R016_S,SP140,Frame_Shift_Del,NM_001278453,exon10,c.919_922del,p.H307Qfs*2,DEL,SNVindel,exonic,SP140,NA,frameshift deletion,"SP140:NM_001278453:exon10:c.919_922del:p.H307Qfs*2,SP140:NM_001278452:exon11:c.1081_1084del:p.H361Qfs*2,SP140:NM_001278451:exon12:c.1180_1183del:p.H394Qfs*2,SP140:NM_007237:exon13:c.1261_1264del:p.H421Qfs*2",NA,NA,NA,NA,NA,NA
chr3,10088407,10088410,AGTA,-,R016_S,FANCD2,Frame_Shift_Del,NM_001018115,exon15,c.1278delA,p.V427Ffs*20,DEL,SNVindel,exonic,FANCD2,NA,frameshift deletion,"FANCD2:NM_001018115:exon15:c.1278delA:p.V427Ffs*20,FANCD2:NM_001319984:exon15:c.1278delA:p.V427Ffs*20,FANCD2:NM_033084:exon15:c.1278delA:p.V427Ffs*20",NA,NA,NA,NA,NA,NA
chr3,52620695,52620695,-,A,R016_S,PBRM1,Nonsense_Mutation,NM_001350075,exon21,c.3132dupT,p.K1045*,SNP,SNVindel,exonic,PBRM1,NA,stopgain,"PBRM1:NM_001350075:exon21:c.3132dupT:p.K1045*,PBRM1:NM_018313:exon21:c.3057dupT:p.K1020*,PBRM1:NM_001366071:exon22:c.3195dupT:p.K1066*,PBRM1:NM_001366072:exon22:c.3195dupT:p.K1066*,PBRM1:NM_001366073:exon22:c.3186dupT:p.K1063*,PBRM1:NM_001366076:exon22:c.3135dupT:p.K1046*,PBRM1:NM_181042:exon22:c.3132dupT:p.K1045*,PBRM1:NM_001350079:exon23:c.3120dupT:p.K1041*,PBRM1:NM_001366070:exon23:c.3240dupT:p.K1081*,PBRM1:NM_001366074:exon23:c.3183dupT:p.K1062*,PBRM1:NM_001366075:exon23:c.3165dupT:p.K1056*,PBRM1:NM_001350074:exon24:c.3240dupT:p.K1081*,PBRM1:NM_001350076:exon24:c.3237dupT:p.K1080*,PBRM1:NM_001350078:exon24:c.3240dupT:p.K1081*,PBRM1:NM_001350077:exon25:c.3231dupT:p.K1078*",NA,NA,NA,NA,NA,NA
chr7,65425906,65425906,A,-,R016_S,GUSB,Frame_Shift_Del,NM_001284290,exon10,c.1496delT,p.L499Wfs*11,SNP,SNVindel,exonic,GUSB,NA,frameshift deletion,"GUSB:NM_001284290:exon10:c.1496delT:p.L499Wfs*11,GUSB:NM_001293105:exon10:c.1277delT:p.L426Wfs*11,GUSB:NM_001293104:exon11:c.1364delT:p.L455Wfs*11,GUSB:NM_000181:exon12:c.1934delT:p.L645Wfs*11",NA,NA,NA,NA,NA,NA
chr8,61765151,61765151,-,TTAGA,R016_S,CHD7,Frame_Shift_Ins,NM_017780,exon30,c.5989_5990insTTAGA,p.A1999Lfs*46,INS,SNVindel,exonic,CHD7,NA,frameshift insertion,CHD7:NM_017780:exon30:c.5989_5990insTTAGA:p.A1999Lfs*46,NA,NA,NA,NA,NA,NA
chr8,133090170,133090173,GTCT,-,R016_S,HHLA1,Frame_Shift_Del,NM_001145095,exon11,c.971_974del,p.Q324Rfs*40,DEL,SNVindel,exonic,HHLA1,NA,frameshift deletion,HHLA1:NM_001145095:exon11:c.971_974del:p.Q324Rfs*40,NA,NA,NA,NA,NA,NA
chr9,97522488,97522488,T,-,R016_S,AOPEP,Frame_Shift_Del,NM_001193329,exon1,c.423delT,p.L143Cfs*2,SNP,SNVindel,exonic,AOPEP,NA,frameshift deletion,"AOPEP:NM_001193329:exon1:c.423delT:p.L143Cfs*2,AOPEP:NM_001193331:exon2:c.423delT:p.L143Cfs*2,AOPEP:NM_032823:exon2:c.423delT:p.L143Cfs*2",NA,NA,NA,NA,NA,NA
chr10,13699134,13699142,CGCCCCCCG,-,R016_S,FRMD4A,In_Frame_Del,NM_001318338,exon11,c.1520_1528del,p.A507_G509del,DEL,SNVindel,exonic,FRMD4A,NA,nonframeshift deletion,"FRMD4A:NM_001318338:exon11:c.1520_1528del:p.A507_G509del,FRMD4A:NM_001318336:exon21:c.2495_2503del:p.A832_G834del,FRMD4A:NM_001318337:exon21:c.2546_2554del:p.A849_G851del,FRMD4A:NM_018027:exon22:c.2447_2455del:p.A816_G818del",NA,NA,NA,NA,NA,NA
chr11,2906592,2906598,CTCAGCT,-,R016_S,CDKN1C,Frame_Shift_Del,NM_000076,exon1,c.122_128del,p.E41Afs*11,DEL,SNVindel,exonic,CDKN1C,NA,frameshift deletion,"CDKN1C:NM_000076:exon1:c.122_128del:p.E41Afs*11,CDKN1C:NM_001362474:exon1:c.122_128del:p.E41Afs*11,CDKN1C:NM_001122630:exon2:c.89_95del:p.E30Afs*11,CDKN1C:NM_001122631:exon2:c.89_95del:p.E30Afs*11,CDKN1C:NM_001362475:exon2:c.89_95del:p.E30Afs*11",NA,NA,NA,NA,NA,NA
chr12,52909591,52909591,C,-,R016_S,KRT5,Frame_Shift_Del,NM_000424,exon8,c.1465delG,p.V489Sfs*54,SNP,SNVindel,exonic,KRT5,NA,frameshift deletion,KRT5:NM_000424:exon8:c.1465delG:p.V489Sfs*54,NA,NA,NA,NA,NA,NA
chr12,122242657,122242657,-,C,R016_S,SETD1B,Frame_Shift_Ins,NM_001353345,exon1,c.15dupC,p.H8Pfs*30,SNP,SNVindel,exonic,SETD1B,NA,frameshift insertion,SETD1B:NM_001353345:exon1:c.15dupC:p.H8Pfs*30,NA,NA,NA,NA,NA,NA
chr16,30380995,30380995,C,-,R016_S,TBC1D10B,Frame_Shift_Del,NM_015527,exon1,c.510delG,p.A172Pfs*12,SNP,SNVindel,exonic,TBC1D10B,NA,frameshift deletion,TBC1D10B:NM_015527:exon1:c.510delG:p.A172Pfs*12,NA,NA,NA,NA,NA,NA
chr17,79612316,79612316,-,G,R016_S,TSPAN10,Unknown,NA,NA,NA,NA,SNP,SNVindel,exonic,TSPAN10,NA,unknown,UNKNOWN,NA,NA,NA,NA,NA,NA
chr19,47028902,47028906,ACCTG,-,R016_S,PPP5D1,Frame_Shift_Del,NM_001370550,exon3,c.248_252del,p.S83Yfs*53,DEL,SNVindel,exonic,PPP5D1,NA,frameshift deletion,PPP5D1:NM_001370550:exon3:c.248_252del:p.S83Yfs*53,NA,NA,NA,NA,NA,NA
chr22,41305198,41305198,T,-,R016_S,XPNPEP3,Frame_Shift_Del,NM_022098,exon6,c.928delT,p.S310Qfs*7,SNP,SNVindel,exonic,XPNPEP3,NA,frameshift deletion,XPNPEP3:NM_022098:exon6:c.928delT:p.S310Qfs*7,NA,NA,NA,NA,NA,NA
chr2,9989571,9989571,A,-,R017_F,TAF1B,Frame_Shift_Del,NM_005680,exon3,c.187delA,p.N66Tfs*26,SNP,SNVindel,exonic,TAF1B,NA,frameshift deletion,TAF1B:NM_005680:exon3:c.187delA:p.N66Tfs*26,NA,NA,NA,NA,NA,NA
chr6,17788096,17788097,AA,-,R017_F,KIF13A,Frame_Shift_Del,NM_001105567,exon26,c.3232_3233del,p.L1078Kfs*13,DEL,SNVindel,exonic,KIF13A,NA,frameshift deletion,"KIF13A:NM_001105567:exon26:c.3232_3233del:p.L1078Kfs*13,KIF13A:NM_001105568:exon26:c.3232_3233del:p.L1078Kfs*13,KIF13A:NM_001105566:exon27:c.3271_3272del:p.L1091Kfs*13,KIF13A:NM_022113:exon27:c.3271_3272del:p.L1091Kfs*13",NA,NA,NA,NA,NA,NA
chrX,19025360,19025360,G,-,R017_F,ADGRG2,Frame_Shift_Del,NM_001184835,exon17,c.1568delC,p.P523Rfs*6,SNP,SNVindel,exonic,ADGRG2,NA,frameshift deletion,"ADGRG2:NM_001184835:exon17:c.1568delC:p.P523Rfs*6,ADGRG2:NM_001079860:exon18:c.1616delC:p.P539Rfs*6,ADGRG2:NM_001184836:exon18:c.1610delC:p.P537Rfs*6,ADGRG2:NM_001184837:exon18:c.1592delC:p.P531Rfs*6,ADGRG2:NM_001079859:exon19:c.1640delC:p.P547Rfs*6,ADGRG2:NM_001184833:exon19:c.1634delC:p.P545Rfs*6,ADGRG2:NM_001079858:exon20:c.1682delC:p.P561Rfs*6,ADGRG2:NM_001184834:exon20:c.1682delC:p.P561Rfs*6,ADGRG2:NM_005756:exon20:c.1673delC:p.P558Rfs*6",NA,NA,NA,NA,NA,NA
chrX,101096651,101096651,G,-,R017_F,NXF5,Frame_Shift_Del,NM_032946,exon5,c.235delC,p.Q79Kfs*16,SNP,SNVindel,exonic,NXF5,NA,frameshift deletion,NXF5:NM_032946:exon5:c.235delC:p.Q79Kfs*16,NA,NA,NA,NA,NA,NA
chr14,24633132,24633134,AGC,-,R018_F,IRF9,In_Frame_Del,NM_006084,exon5,c.541_543del,p.S187del,DEL,SNVindel,exonic,IRF9,NA,nonframeshift deletion,IRF9:NM_006084:exon5:c.541_543del:p.S187del,NA,NA,NA,NA,NA,NA
chr1,8716284,8716285,TC,-,R018_S,RERE,Frame_Shift_Del,NM_001042681,exon2,c.72_73del,p.D27Qfs*6,DEL,SNVindel,exonic,RERE,NA,frameshift deletion,"RERE:NM_001042681:exon2:c.72_73del:p.D27Qfs*6,RERE:NM_012102:exon3:c.72_73del:p.D27Qfs*6",NA,NA,NA,NA,NA,NA
chr1,44878175,44878176,TT,-,R018_S,RNF220,Frame_Shift_Del,NM_001319956,exon2,c.406_407del,p.F136Yfs*7,DEL,SNVindel,exonic,RNF220,NA,frameshift deletion,"RNF220:NM_001319956:exon2:c.406_407del:p.F136Yfs*7,RNF220:NM_018150:exon2:c.406_407del:p.F136Yfs*7",NA,NA,NA,NA,NA,NA
chr1,150769342,150769343,AT,-,R018_S,CTSK,Frame_Shift_Del,NM_000396,exon8,c.922_923del,p.I308Pfs*6,DEL,SNVindel,exonic,CTSK,NA,frameshift deletion,CTSK:NM_000396:exon8:c.922_923del:p.I308Pfs*6,NA,NA,NA,NA,NA,NA
chr2,167285776,167285776,C,-,R018_S,SCN7A,Frame_Shift_Del,NM_002976,exon16,c.2601delG,p.K867Nfs*31,SNP,SNVindel,exonic,SCN7A,NA,frameshift deletion,SCN7A:NM_002976:exon16:c.2601delG:p.K867Nfs*31,NA,NA,NA,NA,NA,NA
chr3,50388951,50388959,CTTTACCAT,-,R018_S,CYB561D2,In_Frame_Del,NM_001291284,exon2,c.87_95del,p.T31_F33del,DEL,SNVindel,exonic,CYB561D2,NA,nonframeshift deletion,"CYB561D2:NM_001291284:exon2:c.87_95del:p.T31_F33del,CYB561D2:NM_007022:exon2:c.87_95del:p.T31_F33del",NA,NA,NA,NA,NA,NA
chr3,129155547,129155547,-,T,R018_S,MBD4,Frame_Shift_Ins,NM_001276270,exon3,c.939dupA,p.E314Rfs*13,SNP,SNVindel,exonic,MBD4,NA,frameshift insertion,"MBD4:NM_001276270:exon3:c.939dupA:p.E314Rfs*13,MBD4:NM_001276271:exon3:c.939dupA:p.E314Rfs*13,MBD4:NM_001276272:exon3:c.939dupA:p.E314Rfs*13,MBD4:NM_003925:exon3:c.939dupA:p.E314Rfs*13",NA,NA,NA,NA,NA,NA
chr6,170871013,170871013,-,CAG,R018_S,TBP,In_Frame_Ins,NM_001172085,exon2,c.129_130insCAG,p.Q75_A76insQ,INS,SNVindel,exonic,TBP,NA,nonframeshift insertion,"TBP:NM_001172085:exon2:c.129_130insCAG:p.Q75_A76insQ,TBP:NM_003194:exon3:c.189_190insCAG:p.Q95_A96insQ",NA,NA,NA,NA,NA,NA
chr10,124189240,124189240,T,-,R018_S,PLEKHA1,Frame_Shift_Del,NM_001001974,exon12,c.1001delT,p.V334Afs*37,SNP,SNVindel,exonic,PLEKHA1,NA,frameshift deletion,"PLEKHA1:NM_001001974:exon12:c.1001delT:p.V334Afs*37,PLEKHA1:NM_021622:exon12:c.1001delT:p.V334Afs*37,PLEKHA1:NM_001330178:exon14:c.1042delT:p.S348Lfs*38",NA,NA,NA,NA,NA,NA
chr12,132547093,132547093,-,CAG,R018_S,EP400,In_Frame_Ins,NM_015409,exon47,c.8181_8182insCAG,p.Q2748_T2749insQ,INS,SNVindel,exonic,EP400,NA,nonframeshift insertion,EP400:NM_015409:exon47:c.8181_8182insCAG:p.Q2748_T2749insQ,NA,NA,NA,NA,NA,NA
chr15,78922020,78922020,-,A,R018_S,CHRNB4,Frame_Shift_Ins,NM_000750,exon5,c.626_627insT,p.R209Sfs*233,SNP,SNVindel,exonic,CHRNB4,NA,frameshift insertion,CHRNB4:NM_000750:exon5:c.626_627insT:p.R209Sfs*233,NA,NA,NA,NA,NA,NA
chr19,53740665,53740672,CCCTGCCA,-,R018_S,ZNF677,Frame_Shift_Del,NM_001317998,exon5,c.1308_1315del,p.G437Ffs*23,DEL,SNVindel,exonic,ZNF677,NA,frameshift deletion,"ZNF677:NM_001317998:exon5:c.1308_1315del:p.G437Ffs*23,ZNF677:NM_182609:exon5:c.1308_1315del:p.G437Ffs*23",NA,NA,NA,NA,NA,NA
chr5,71493036,71493036,A,-,R019_F,MAP1B,Frame_Shift_Del,NM_001324255,exon4,c.3476delA,p.E1159Gfs*10,SNP,SNVindel,exonic,MAP1B,NA,frameshift deletion,"MAP1B:NM_001324255:exon4:c.3476delA:p.E1159Gfs*10,MAP1B:NM_005909:exon5:c.3854delA:p.E1285Gfs*10",NA,NA,NA,NA,NA,NA
chr9,110084381,110084383,ACA,-,R019_F,RAD23B,In_Frame_Del,NM_001244713,exon7,c.736_738del,p.T248del,DEL,SNVindel,exonic,RAD23B,NA,nonframeshift deletion,"RAD23B:NM_001244713:exon7:c.736_738del:p.T248del,RAD23B:NM_001244724:exon7:c.583_585del:p.T197del,RAD23B:NM_002874:exon7:c.799_801del:p.T269del",NA,NA,NA,NA,NA,NA
chr17,7577094,7577094,G,-,R019_F,TP53,Frame_Shift_Del,NM_001126115,exon4,c.448delC,p.R150Gfs*63,SNP,SNVindel,exonic,TP53,NA,frameshift deletion,"TP53:NM_001126115:exon4:c.448delC:p.R150Gfs*63,TP53:NM_001126116:exon4:c.448delC:p.R150Gfs*69,TP53:NM_001126117:exon4:c.448delC:p.R150Gfs*61,TP53:NM_001276697:exon4:c.367delC:p.R123Gfs*63,TP53:NM_001276698:exon4:c.367delC:p.R123Gfs*69,TP53:NM_001276699:exon4:c.367delC:p.R123Gfs*61,TP53:NM_001126118:exon7:c.727delC:p.R243Gfs*63,TP53:NM_000546:exon8:c.844delC:p.R282Gfs*63,TP53:NM_001126112:exon8:c.844delC:p.R282Gfs*63,TP53:NM_001126113:exon8:c.844delC:p.R282Gfs*61,TP53:NM_001126114:exon8:c.844delC:p.R282Gfs*69,TP53:NM_001276695:exon8:c.727delC:p.R243Gfs*61,TP53:NM_001276696:exon8:c.727delC:p.R243Gfs*69,TP53:NM_001276760:exon8:c.727delC:p.R243Gfs*63,TP53:NM_001276761:exon8:c.727delC:p.R243Gfs*63",NA,NA,NA,NA,NA,NA
chr1,202097525,202097527,CTG,-,R019_S,GPR37L1,In_Frame_Del,NM_004767,exon2,c.1287_1289del,p.C436del,DEL,SNVindel,exonic,GPR37L1,NA,nonframeshift deletion,GPR37L1:NM_004767:exon2:c.1287_1289del:p.C436del,NA,NA,NA,NA,NA,NA
chr3,51972181,51972183,CTC,-,R019_S,RRP9,In_Frame_Del,NM_004704,exon3,c.208_210del,p.E70del,DEL,SNVindel,exonic,RRP9,NA,nonframeshift deletion,RRP9:NM_004704:exon3:c.208_210del:p.E70del,NA,NA,NA,NA,NA,NA
chr5,71493036,71493036,A,-,R019_S,MAP1B,Frame_Shift_Del,NM_001324255,exon4,c.3476delA,p.E1159Gfs*10,SNP,SNVindel,exonic,MAP1B,NA,frameshift deletion,"MAP1B:NM_001324255:exon4:c.3476delA:p.E1159Gfs*10,MAP1B:NM_005909:exon5:c.3854delA:p.E1285Gfs*10",NA,NA,NA,NA,NA,NA
chr6,34839667,34839667,T,-,R019_S,UHRF1BP1,Frame_Shift_Del,NM_017754,exon20,c.4162delT,p.L1389Wfs*12,SNP,SNVindel,exonic,UHRF1BP1,NA,frameshift deletion,UHRF1BP1:NM_017754:exon20:c.4162delT:p.L1389Wfs*12,NA,NA,NA,NA,NA,NA
chr9,110084381,110084383,ACA,-,R019_S,RAD23B,In_Frame_Del,NM_001244713,exon7,c.736_738del,p.T248del,DEL,SNVindel,exonic,RAD23B,NA,nonframeshift deletion,"RAD23B:NM_001244713:exon7:c.736_738del:p.T248del,RAD23B:NM_001244724:exon7:c.583_585del:p.T197del,RAD23B:NM_002874:exon7:c.799_801del:p.T269del",NA,NA,NA,NA,NA,NA
chr10,50311835,50311835,C,-,R019_S,VSTM4,Frame_Shift_Del,NM_144984,exon3,c.528delG,p.L176Ffs*7,SNP,SNVindel,exonic,VSTM4,NA,frameshift deletion,VSTM4:NM_144984:exon3:c.528delG:p.L176Ffs*7,NA,NA,NA,NA,NA,NA
chr13,51530587,51530587,A,-,R019_S,RNASEH2B,Frame_Shift_Del,NM_024570,exon11,c.916delA,p.I309Lfs*26,SNP,SNVindel,exonic,RNASEH2B,NA,frameshift deletion,RNASEH2B:NM_024570:exon11:c.916delA:p.I309Lfs*26,NA,NA,NA,NA,NA,NA
chr14,89629149,89629151,GAG,-,R019_S,FOXN3,In_Frame_Del,NM_005197,exon6,c.1014_1016del,p.S339del,DEL,SNVindel,exonic,FOXN3,NA,nonframeshift deletion,"FOXN3:NM_005197:exon6:c.1014_1016del:p.S339del,FOXN3:NM_001085471:exon7:c.1080_1082del:p.S361del",NA,NA,NA,NA,NA,NA
chr17,7577094,7577094,G,-,R019_S,TP53,Frame_Shift_Del,NM_001126115,exon4,c.448delC,p.R150Gfs*63,SNP,SNVindel,exonic,TP53,NA,frameshift deletion,"TP53:NM_001126115:exon4:c.448delC:p.R150Gfs*63,TP53:NM_001126116:exon4:c.448delC:p.R150Gfs*69,TP53:NM_001126117:exon4:c.448delC:p.R150Gfs*61,TP53:NM_001276697:exon4:c.367delC:p.R123Gfs*63,TP53:NM_001276698:exon4:c.367delC:p.R123Gfs*69,TP53:NM_001276699:exon4:c.367delC:p.R123Gfs*61,TP53:NM_001126118:exon7:c.727delC:p.R243Gfs*63,TP53:NM_000546:exon8:c.844delC:p.R282Gfs*63,TP53:NM_001126112:exon8:c.844delC:p.R282Gfs*63,TP53:NM_001126113:exon8:c.844delC:p.R282Gfs*61,TP53:NM_001126114:exon8:c.844delC:p.R282Gfs*69,TP53:NM_001276695:exon8:c.727delC:p.R243Gfs*61,TP53:NM_001276696:exon8:c.727delC:p.R243Gfs*69,TP53:NM_001276760:exon8:c.727delC:p.R243Gfs*63,TP53:NM_001276761:exon8:c.727delC:p.R243Gfs*63",NA,NA,NA,NA,NA,NA
chr18,30913142,30913142,-,T,R019_S,CCDC178,Frame_Shift_Ins,NM_001105528,exon10,c.874dupA,p.M292Nfs*11,SNP,SNVindel,exonic,CCDC178,NA,frameshift insertion,"CCDC178:NM_001105528:exon10:c.874dupA:p.M292Nfs*11,CCDC178:NM_001308126:exon10:c.874dupA:p.M292Nfs*11,CCDC178:NM_001371120:exon10:c.874dupA:p.M292Nfs*11,CCDC178:NM_001371121:exon10:c.874dupA:p.M292Nfs*11,CCDC178:NM_198995:exon10:c.874dupA:p.M292Nfs*11",NA,NA,NA,NA,NA,NA
chr19,45912490,45912492,AAG,-,R019_S,CD3EAP,In_Frame_Del,NM_001297590,exon3,c.1270_1272del,p.K430del,DEL,SNVindel,exonic,CD3EAP,NA,nonframeshift deletion,"CD3EAP:NM_001297590:exon3:c.1270_1272del:p.K430del,CD3EAP:NM_012099:exon3:c.1264_1266del:p.K428del",NA,NA,NA,NA,NA,NA
chr2,3628503,3628503,C,T,P137694_F,RPS7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPS7,NM_001011:c.*31C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148757727,148757727,T,C,P137694_F,HLTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,78178572,78178572,C,T,P137694_F,SCEL-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SCEL-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,77768428,77768428,C,T,P137694_F,MYCBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYCBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47840778,47840778,C,T,P137694_F,CMPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CMPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40856768,40856768,G,A,P137694_F,CCDC32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22027919,22027919,C,T,P137694_F,USP48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1779089,1779089,G,T,P137694_F,MAPK8IP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK8IP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3628503,3628503,C,T,P137694_S,RPS7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPS7,NM_001011:c.*31C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148757727,148757727,T,C,P137694_S,HLTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,175914371,175914371,C,T,P137694_S,COP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,78178572,78178572,C,T,P137694_S,SCEL-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SCEL-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,77768428,77768428,C,T,P137694_S,MYCBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYCBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47840778,47840778,C,T,P137694_S,CMPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CMPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22027919,22027919,C,T,P137694_S,USP48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1779089,1779089,G,T,P137694_S,MAPK8IP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK8IP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,93614945,93614945,T,C,P176723_F,TNKS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNKS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86591903,86591903,T,C,P176723_F,HNRNPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113295893,113295893,G,C,P176723_F,SIDT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIDT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12237177,12237177,C,G,P176723_F,LOC649352,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC649352,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43348520,43348520,C,T,P176723_F,PSG10P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PSG10P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40856768,40856768,G,A,P176723_S,CCDC32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86591903,86591903,T,C,P176723_S,HNRNPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113295893,113295893,G,C,P176723_S,SIDT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIDT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23021339,23021339,C,T,P197462_F,NIPA2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NIPA2,NM_001184889:c.-3G>A;NM_001008860:c.-3G>A;NM_001008892:c.-3G>A;NM_001008894:c.-3G>A;NM_001184888:c.-3G>A;NM_030922:c.-3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32650229,32650229,C,A,P197462_F,TXLNA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXLNA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12976425,12976425,G,A,P197462_F,MAST1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAST1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220928237,220928237,T,C,P197462_F,2-Mar,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,2-Mar,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,93804726,93804726,A,G,P197462_F,UBE2N,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2N,NA,NA,NA,T,.,D,T,N,T
chr9,132861840,132861840,A,G,P197462_F,GPR107,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR107,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,64117319,64117319,C,T,P197462_F,PGM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33490487,33490487,C,T,P197462_F,RHPN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHPN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23021339,23021339,C,T,P197462_S,NIPA2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NIPA2,NM_001184889:c.-3G>A;NM_001008860:c.-3G>A;NM_001008892:c.-3G>A;NM_001008894:c.-3G>A;NM_001184888:c.-3G>A;NM_030922:c.-3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32650229,32650229,C,A,P197462_S,TXLNA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXLNA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12976425,12976425,G,A,P197462_S,MAST1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAST1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220928237,220928237,T,C,P197462_S,2-Mar,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,2-Mar,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,93804726,93804726,A,G,P197462_S,UBE2N,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2N,NA,NA,NA,T,.,D,T,N,T
chr9,132861840,132861840,A,G,P197462_S,GPR107,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR107,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,64117319,64117319,C,T,P197462_S,PGM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,117092701,117092701,C,A,P197462_S,ORM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16891534,16891534,A,G,P237167_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45472830,45472830,T,G,P237167_F,HECTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,57171638,57171638,C,T,P237167_F,PRKAA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKAA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,87805344,87805344,A,T,P237167_F,LMO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,142849283,142849283,G,A,P237167_F,ANKRD20A12P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANKRD20A12P;LOC102723769,dist=135678;dist=285320,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161483723,161483723,G,A,P237167_F,FCGR2A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FCGR2A,NM_021642:exon6:c.777+1G>A;NM_001136219:exon6:c.780+1G>A,NA,NA,.,.,D,.,.,.
chr1,169890986,169890986,G,A,P237167_F,KIFAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIFAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,170916645,170916645,C,T,P237167_F,MROH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176012500,176012500,G,A,P237167_F,COP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220313680,220313680,A,G,P237167_F,IARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,241907680,241907680,C,T,P237167_F,WDR64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37599639,37599639,T,G,P237167_F,QPCT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QPCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42996746,42996746,A,T,P237167_F,HAAO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAAO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107042620,107042620,C,T,P237167_F,RGPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158991121,158991121,T,C,P237167_F,UPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202028715,202028715,G,A,P237167_F,CFLAR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CFLAR,NM_001202519:c.*912G>A;NM_001202517:c.*19G>A;NM_001202516:c.*19G>A;NM_003879:c.*19G>A;NM_001351590:c.*912G>A;NM_001351594:c.*19G>A;NM_001351593:c.*19G>A;NM_001127183:c.*19G>A;NM_001308042:c.*912G>A;NM_001202518:c.*912G>A;NM_001202515:c.*19G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,212289105,212289105,G,T,P237167_F,ERBB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERBB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242396106,242396106,C,G,P237167_F,FARP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44872350,44872350,A,G,P237167_F,KIF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113878430,113878430,C,T,P237167_F,DRD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142218392,142218392,G,T,P237167_F,ATR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185879676,185879676,C,G,P237167_F,DGKG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195712478,195712478,G,A,P237167_F,SDHAP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SDHAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,10522275,10522275,T,C,P237167_F,CLNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555380,20555380,A,G,P237167_F,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,30132798,30132798,C,G,P237167_F,LINC02472,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02472;PCDH7,dist=910015;dist=589193,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113353905,113353905,C,T,P237167_F,ALPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,128628230,128628230,A,G,P237167_F,INTU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34192944,34192944,A,G,P237167_F,LOC646652,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC646652,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36037851,36037851,T,G,P237167_F,UGT3A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGT3A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131322649,131322649,T,C,P237167_F,ACSL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,6206795,6206795,C,T,P237167_F,F13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24412739,24412739,G,A,P237167_F,MRS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51732926,51732926,A,G,P237167_F,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623922,55623922,T,C,P237167_F,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57512352,57512352,A,T,P237167_F,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22170413,22170413,C,T,P237167_F,RAPGEF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,29918777,29918777,G,T,P237167_F,WIPF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WIPF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45141352,45141352,C,T,P237167_F,TBRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,55750516,55750516,G,A,P237167_F,FKBP9P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FKBP9P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75190526,75190526,A,G,P237167_F,HIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142120201,142120201,G,C,P237167_F,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=148133;dist=37141,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143078614,143078614,C,G,P237167_F,FAM131B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM131B;ZYX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,3224480,3224480,C,A,P237167_F,CSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17218512,17218512,A,T,P237167_F,MTMR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,77690746,77690746,A,C,P237167_F,ZFHX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFHX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,12863,12863,G,A,P237167_F,DDX11L5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DDX11L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,28149038,28149038,C,T,P237167_F,LINGO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LINGO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33443503,33443503,C,T,P237167_F,AQP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AQP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,40293075,40293075,T,C,P237167_F,FAM74A1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM74A1;LOC105379450,dist=386856;dist=390744,NA,NA,NA,NA,NA,NA,NA,NA
chr9,85670449,85670449,C,T,P237167_F,RASEF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,117044862,117044862,G,A,P237167_F,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,119488041,119488041,C,T,P237167_F,ASTN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133061299,133061299,T,C,P237167_F,HMCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140332766,140332766,G,A,P237167_F,ENTPD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENTPD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140946687,140946687,C,T,P237167_F,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71075672,71075672,G,T,P237167_F,HK1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HK1,NM_033496:c.-39G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,74235479,74235479,G,A,P237167_F,MICU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75874196,75874196,C,T,P237167_F,VCL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VCL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95415734,95415734,G,C,P237167_F,PDE6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,133769471,133769471,C,T,P237167_F,PPP2R2D,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PPP2R2D,NM_001291310:c.*4C>T;NM_018461:c.*4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22301425,22301425,C,T,P237167_F,ANO5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANO5,NM_001142649:c.*114C>T;NM_213599:c.*114C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,56216739,56216739,C,A,P237167_F,OR5R1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR5R1;OR5M9,dist=31031;dist=13206,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59861311,59861311,A,G,P237167_F,MS4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125851269,125851269,G,A,P237167_F,CDON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130103878,130103878,T,G,P237167_F,ZBTB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB44,NM_014155:c.*280A>C;NM_001370219:c.*8A>C;NM_001370220:c.*8A>C;NM_001370221:c.*280A>C;NM_001370222:c.*8A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134152041,134152041,G,A,P237167_F,GLB1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,28122997,28122997,A,G,P237167_F,PTHLH,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTHLH,NM_198965:c.-570T>C;NM_002820:c.-570T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20002179,20002179,A,C,P237167_F,POTEM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65733818,65733818,T,G,P237167_F,LINC02324,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02324;MIR4708,dist=44753;dist=68018,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106174654,106174654,C,G,P237167_F,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=35510;dist=149639,NA,NA,NA,NA,NA,NA,NA,NA
chr15,32607256,32607256,A,G,P237167_F,CHRNA7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CHRNA7;GOLGA8K,dist=142037;dist=74530,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75649103,75649103,A,G,P237167_F,NEIL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NEIL1,NM_001352520:c.*1728A>G;NM_024608:c.*1728A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102516350,102516350,G,A,P237167_F,WASH3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816454,50816454,C,T,P237167_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816460,50816460,A,T,P237167_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,77326907,77326907,A,G,P237167_F,ADAMTS18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6662387,6662387,G,A,P237167_F,XAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48653695,48653695,C,A,P237167_F,CACNA1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76396696,76396696,C,T,P237167_F,PGS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,23772248,23772248,T,G,P237167_F,PSMA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,31463134,31463134,G,A,P237167_F,NOL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3205826,3205826,A,T,P237167_F,NCLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4680070,4680070,T,C,P237167_F,DPP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP9;DPP9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6026085,6026085,C,T,P237167_F,RFX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11657428,11657428,C,T,P237167_F,CNN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40169884,40169884,C,A,P237167_F,LGALS17A,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LGALS17A,dist=130,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49550888,49550888,T,G,P237167_F,CGB8,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,CGB8,dist=7,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57742455,57742455,C,G,P237167_F,AURKC,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,AURKC,NM_001015879:c.-27C>G;NM_003160:c.-699C>G;NM_001015878:c.-162C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25274967,25274967,G,A,P237167_F,PYGB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYGB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25900074,25900074,A,G,P237167_F,LOC101926935,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101926935;LINC01733,dist=65417;dist=36374,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62040022,62040022,T,C,P237167_F,KCNQ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45655492,45655492,T,G,P237167_F,ICOSLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ICOSLG;LOC102723996,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18779756,18779756,C,T,P237167_F,GGT3P,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,GGT3P,dist=282,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22735316,22735316,A,G,P237167_F,BMS1P20,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,BMS1P20;ZNF280B,dist=57992;dist=103455,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30921557,30921557,C,T,P237167_F,SEC14L6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC14L6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32482020,32482020,T,C,P237167_F,SLC5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32548126,32548126,A,T,P237167_F,C22orf42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C22orf42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37531289,37531289,C,T,P237167_F,IL2RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39358241,39358241,C,T,P237167_F,APOBEC3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC3A;APOBEC3A_B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,130416297,130416297,A,G,P237167_F,IGSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,14968799,14968799,A,G,P237167_F,USP9Y,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP9Y,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17398,17398,C,A,P237167_S,MIR6859-1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR6859-1;MIR6859-2;MIR6859-3;MIR6859-4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3649651,3649651,G,A,P237167_S,TP73,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TP73,NM_001204184:c.*325G>A;NM_005427:c.*8G>A;NM_001204185:c.*342G>A;NM_001204186:c.*325G>A;NM_001204187:c.*8G>A;NM_001204188:c.*8G>A;NM_001204190:c.*8G>A;NM_001204189:c.*325G>A;NM_001204191:c.*8G>A;NM_001126241:c.*325G>A;NM_001126240:c.*8G>A;NM_001126242:c.*342G>A;NM_001204192:c.*8G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15627621,15627621,C,T,P237167_S,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24124835,24124835,T,C,P237167_S,GALE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24394394,24394394,G,A,P237167_S,MYOM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35455822,35455822,T,C,P237167_S,ZMYM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46081792,46081792,A,C,P237167_S,NASP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NASP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54433696,54433696,G,T,P237167_S,LRRC42,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRRC42,NM_052940:c.*84G>T;NM_001256409:c.*84G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55199084,55199084,C,T,P237167_S,MROH7-TTC4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MROH7-TTC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,87805344,87805344,A,T,P237167_S,LMO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89236275,89236275,C,T,P237167_S,PKN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94140097,94140097,C,T,P237167_S,BCAR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,98186524,98186524,C,A,P237167_S,DPYD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPYD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118461458,118461458,T,C,P237167_S,GDAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145038889,145038889,G,A,P237167_S,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209666,145209666,C,T,P237167_S,NOTCH2NLR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NOTCH2NLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155532260,155532260,G,A,P237167_S,ASH1L-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ASH1L-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155885589,155885589,C,T,P237167_S,KHDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KHDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156551098,156551098,G,A,P237167_S,TTC24,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TTC24,dist=59,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159912560,159912560,A,G,P237167_S,IGSF9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160914780,160914780,G,A,P237167_S,LOC101928372,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928372,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160920294,160920294,G,A,P237167_S,ITLN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161139346,161139346,C,T,P237167_S,PPOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168208164,168208164,G,A,P237167_S,SFT2D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFT2D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,170916645,170916645,C,T,P237167_S,MROH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207241463,207241463,C,G,P237167_S,PFKFB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKFB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228596987,228596987,C,T,P237167_S,TRIM17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1440293,1440293,C,T,P237167_S,TPO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7471526,7471526,G,A,P237167_S,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=253515;dist=89866,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11977217,11977217,G,A,P237167_S,MIR4262,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4262,dist=105,NA,NA,NA,NA,NA,NA,NA,NA
chr2,53956055,53956055,G,A,P237167_S,ASB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB3;GPR75-ASB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,68389220,68389220,A,G,P237167_S,PNO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107042620,107042620,C,T,P237167_S,RGPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158991121,158991121,T,C,P237167_S,UPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,170463405,170463405,C,T,P237167_S,PPIG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179315781,179315781,C,T,P237167_S,PRKRA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PRKRA,NM_001316362:c.-6576G>A;NM_003690:c.-24G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191819419,191819419,T,C,P237167_S,GLS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242396106,242396106,C,G,P237167_S,FARP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10130511,10130511,G,A,P237167_S,FANCD2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FANCD2,NM_001018115:exon36:c.3561-1G>A;NM_033084:exon36:c.3561-1G>A;NM_001319984:exon36:c.3561-1G>A,NA,NA,.,.,D,.,.,.
chr3,10276141,10276141,A,G,P237167_S,IRAK2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,IRAK2,NM_001570:exon11:c.1273-2A>G,NA,NA,.,.,D,.,.,.
chr3,12623925,12623925,G,A,P237167_S,MKRN2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MKRN2,NM_001271707:c.*173G>A;NM_014160:c.*173G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39129934,39129934,G,A,P237167_S,WDR48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44872350,44872350,A,G,P237167_S,KIF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47046373,47046373,T,C,P237167_S,NBEAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBEAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52394474,52394474,A,G,P237167_S,DNAH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,69111096,69111096,G,A,P237167_S,UBA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108475886,108475886,C,T,P237167_S,RETNLB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RETNLB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,109128964,109128964,C,G,P237167_S,LINC01205,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01205,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111685397,111685397,A,G,P237167_S,PHLDB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLDB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122864457,122864457,C,T,P237167_S,PDIA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDIA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127387510,127387510,G,A,P237167_S,PODXL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PODXL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,137750025,137750025,G,A,P237167_S,CLDN18,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CLDN18,NM_001002026:c.*42G>A;NM_016369:c.*42G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,154807543,154807543,G,A,P237167_S,MME,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MME,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,157820733,157820733,G,A,P237167_S,SHOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,189598036,189598036,A,G,P237167_S,TP63,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TP63,NM_001114979:c.*69A>G;NM_001114982:c.*69A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197562523,197562523,G,T,P237167_S,LRCH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197593205,197593205,C,T,P237167_S,LRCH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,10522275,10522275,T,C,P237167_S,CLNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48158800,48158800,T,C,P237167_S,TEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,49064030,49064030,G,A,P237167_S,CWH43,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CWH43,NM_025087:c.*123G>A;NM_001286791:c.*123G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74713840,74713840,A,T,P237167_S,CXCL6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CXCL6;PF4V1,dist=9363;dist=5173,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83956516,83956516,T,G,P237167_S,COPS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,95210741,95210741,G,C,P237167_S,SMARCAD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SMARCAD1,NM_001128430:c.*56G>C;NM_001128429:c.*56G>C;NM_020159:c.*56G>C;NM_001254949:c.*56G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113353905,113353905,C,T,P237167_S,ALPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,128628230,128628230,A,G,P237167_S,INTU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156399,156399,C,T,P237167_S,PLEKHG4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36037851,36037851,T,G,P237167_S,UGT3A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGT3A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,73153413,73153413,T,C,P237167_S,ARHGEF28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131713792,131713792,C,T,P237167_S,SLC22A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137275909,137275909,G,A,P237167_S,FAM13B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FAM13B;PKD2L2,NM_016603:c.*5C>T;NM_001101800:c.*5C>T;NM_001101801:c.*5C>T;NM_001258449:c.*442G>A;NM_014386:c.*73G>A;NM_001258448:c.*148G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,159781759,159781759,C,T,P237167_S,C1QTNF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QTNF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177466257,177466257,C,T,P237167_S,FAM153CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM153CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179227384,179227384,T,C,P237167_S,MGAT4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAT4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180376788,180376788,C,T,P237167_S,BTNL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTNL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,6206795,6206795,C,T,P237167_S,F13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,38913419,38913419,G,A,P237167_S,LOC100131047,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100131047,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47200396,47200396,A,C,P237167_S,TNFRSF21,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNFRSF21,NM_014452:c.*105T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51732926,51732926,A,G,P237167_S,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623922,55623922,T,C,P237167_S,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,73843889,73843889,C,T,P237167_S,KCNQ5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,128559348,128559348,G,A,P237167_S,PTPRK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,132782901,132782901,C,T,P237167_S,STX7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STX7,NM_001326580:c.*72G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160184160,160184160,T,A,P237167_S,ACAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5663669,5663669,C,A,P237167_S,RNF216,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF216,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22539814,22539814,C,G,P237167_S,STEAP1B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STEAP1B,NM_207342:c.-5340G>C;NM_001164460:c.-5340G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45725967,45725967,G,T,P237167_S,ADCY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100276307,100276307,C,T,P237167_S,GNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105182822,105182822,C,T,P237167_S,RINT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RINT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392911,107392911,C,G,P237167_S,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392917,107392917,C,G,P237167_S,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,131194462,131194462,C,T,P237167_S,PODXL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PODXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141844922,141844922,C,T,P237167_S,MGAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142120201,142120201,G,C,P237167_S,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=148133;dist=37141,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143078614,143078614,C,G,P237167_S,FAM131B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM131B;ZYX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,1774135,1774135,C,T,P237167_S,ARHGEF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,20005380,20005380,C,T,P237167_S,SLC18A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22276871,22276871,G,A,P237167_S,SLC39A14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42814588,42814588,G,A,P237167_S,HOOK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOOK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62555416,62555416,G,A,P237167_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67710904,67710904,G,A,P237167_S,C8orf44-SGK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C8orf44-SGK3;SGK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,75262601,75262601,G,T,P237167_S,GDAP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,GDAP1,dist=17,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33443503,33443503,C,T,P237167_S,AQP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AQP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34089627,34089627,G,A,P237167_S,DCAF12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34407067,34407067,A,G,P237167_S,FAM219A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM219A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37495850,37495850,C,T,P237167_S,POLR1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131881318,131881318,T,C,P237167_S,PTPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133061299,133061299,T,C,P237167_S,HMCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133068627,133068627,C,T,P237167_S,HMCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139960899,139960899,T,C,P237167_S,SAPCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAPCD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,12142075,12142075,A,G,P237167_S,DHTKD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHTKD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,12142276,12142276,T,C,P237167_S,DHTKD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHTKD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,12226330,12226330,A,G,P237167_S,NUDT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,43600863,43600863,G,A,P237167_S,RET,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RET,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,45798714,45798714,C,T,P237167_S,OR13A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OR13A1,NM_001004297:c.*170G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50901762,50901762,G,C,P237167_S,C10orf53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C10orf53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71075672,71075672,G,T,P237167_S,HK1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HK1,NM_033496:c.-39G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,72543092,72543092,C,T,P237167_S,TBATA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBATA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,73048818,73048818,G,A,P237167_S,UNC5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,74235479,74235479,G,A,P237167_S,MICU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,101163673,101163673,G,A,P237167_S,GOT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104621990,104621990,G,A,P237167_S,BORCS7-ASMT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BORCS7-ASMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,127753574,127753574,G,T,P237167_S,ADAM12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,133769471,133769471,C,T,P237167_S,PPP2R2D,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PPP2R2D,NM_001291310:c.*4C>T;NM_018461:c.*4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1090713,1090713,C,T,P237167_S,MUC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2443636,2443636,G,A,P237167_S,TRPM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,10597699,10597699,G,A,P237167_S,MRVI1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MRVI1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17615531,17615531,C,T,P237167_S,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18029762,18029762,A,T,P237167_S,SERGEF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERGEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,19209870,19209870,G,A,P237167_S,CSRP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSRP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,48373646,48373646,G,A,P237167_S,OR4C45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OR4C45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,56216739,56216739,C,A,P237167_S,OR5R1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR5R1;OR5M9,dist=31031;dist=13206,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64955596,64955596,G,A,P237167_S,CAPN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65547887,65547887,G,A,P237167_S,AP5B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP5B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66386228,66386228,A,G,P237167_S,RBM14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM14;RBM14-RBM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66438211,66438211,G,T,P237167_S,RBM4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72361972,72361972,T,C,P237167_S,PDE2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94326617,94326617,A,G,P237167_S,LOC105369438,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105369438,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94351396,94351396,G,A,P237167_S,LOC105369438,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105369438,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130103878,130103878,T,G,P237167_S,ZBTB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB44,NM_014155:c.*280A>C;NM_001370219:c.*8A>C;NM_001370220:c.*8A>C;NM_001370221:c.*280A>C;NM_001370222:c.*8A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134152041,134152041,G,A,P237167_S,GLB1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10370831,10370831,G,A,P237167_S,GABARAPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABARAPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,28122997,28122997,A,G,P237167_S,PTHLH,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTHLH,NM_198965:c.-570T>C;NM_002820:c.-570T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,29509237,29509237,C,T,P237167_S,ERGIC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERGIC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46328113,46328113,G,A,P237167_S,SCAF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52698816,52698816,G,A,P237167_S,KRT86,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT86,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54901581,54901581,G,A,P237167_S,NCKAP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,95702339,95702339,G,A,P237167_S,MIR331,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR331,dist=50,NA,NA,NA,NA,NA,NA,NA,NA
chr12,98909526,98909526,C,T,P237167_S,TMPO-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TMPO-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122758523,122758523,G,A,P237167_S,CLIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133796069,133796069,C,G,P237167_S,ANHX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANHX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,20240425,20240425,C,T,P237167_S,MPHOSPH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24460068,24460068,G,A,P237167_S,MIPEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIPEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24893145,24893145,C,T,P237167_S,C1QTNF9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QTNF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23517970,23517970,A,G,P237167_S,CDH24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50844095,50844095,G,A,P237167_S,CDKL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51443999,51443999,C,T,P237167_S,TRIM9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRIM9,NM_015163:c.*10G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65406583,65406583,T,C,P237167_S,CHURC1-FNTB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHURC1-FNTB;GPX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69792166,69792166,T,C,P237167_S,GALNT16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74975829,74975829,C,T,P237167_S,LTBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77935308,77935308,G,C,P237167_S,AHSA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHSA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,90485948,90485948,G,A,P237167_S,TDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91110601,91110601,G,A,P237167_S,LOC101928909,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928909,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103174726,103174726,T,C,P237167_S,RCOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106209302,106209302,G,A,P237167_S,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=70158;dist=114991,NA,NA,NA,NA,NA,NA,NA,NA
chr15,26887558,26887558,G,A,P237167_S,GABRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,30771310,30771310,A,C,P237167_S,LOC100288203,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100288203,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,32607256,32607256,A,G,P237167_S,CHRNA7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CHRNA7;GOLGA8K,dist=142037;dist=74530,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75649103,75649103,A,G,P237167_S,NEIL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NEIL1,NM_001352520:c.*1728A>G;NM_024608:c.*1728A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr15,76030937,76030937,C,T,P237167_S,DNM1P35,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNM1P35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78215253,78215253,G,A,P237167_S,LOC645752,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC645752,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,79069958,79069958,G,A,P237167_S,ADAMTS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,83937110,83937110,C,T,P237167_S,BNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91545207,91545207,C,T,P237167_S,VPS33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,727229,727229,G,A,P237167_S,RHBDL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2086712,2086712,C,T,P237167_S,SLC9A3R2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A3R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3459113,3459113,A,G,P237167_S,ZNF174,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF174,NM_003450:c.*194A>G;NM_001347868:c.*194A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14234746,14234746,G,A,P237167_S,MRTFB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRTFB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21728484,21728484,A,G,P237167_S,OTOA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23197484,23197484,C,T,P237167_S,SCNN1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCNN1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27078156,27078156,C,T,P237167_S,C16orf82,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,C16orf82,dist=92,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28510417,28510417,G,A,P237167_S,APOBR,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,APOBR;IL27,dist=266,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31272980,31272980,C,T,P237167_S,ITGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816454,50816454,C,T,P237167_S,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816460,50816460,A,T,P237167_S,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1635820,1635820,G,A,P237167_S,WDR81,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR81,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4724982,4724982,A,G,P237167_S,PLD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5365551,5365551,C,T,P237167_S,DHX33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40723420,40723420,T,C,P237167_S,MLX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42268244,42268244,G,A,P237167_S,TMUB2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMUB2,NM_024107:c.*12G>A;NM_001353186:c.*344G>A;NM_001076674:c.*12G>A;NM_001353177:c.*12G>A;NM_001353178:c.*12G>A;NM_001353176:c.*12G>A;NM_001330235:c.*12G>A;NM_001353188:c.*12G>A;NM_001353191:c.*12G>A;NM_001353180:c.*12G>A;NM_001353183:c.*12G>A;NM_001353185:c.*12G>A;NM_001353175:c.*12G>A;NM_177441:c.*12G>A;NM_001353174:c.*12G>A;NM_001353181:c.*12G>A;NM_001353182:c.*12G>A;NM_001353184:c.*12G>A;NM_001353187:c.*12G>A;NM_001353173:c.*12G>A;NM_001353189:c.*12G>A;NM_001353190:c.*12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58120391,58120391,T,C,P237167_S,MIR4737,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4737,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72541933,72541933,G,A,P237167_S,CD300C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CD300C,NM_006678:c.-12C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74729861,74729861,G,A,P237167_S,METTL23,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,METTL23,NM_001206987:c.*93G>A;NM_001206986:c.*93G>A;NM_001206984:c.*93G>A;NM_001302705:c.*93G>A;NM_001302704:c.*93G>A;NM_001206985:c.*93G>A;NM_001206983:c.*93G>A;NM_001302703:c.*93G>A;NM_001080510:c.*93G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79084557,79084557,C,T,P237167_S,BAIAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4028402,4028402,C,T,P237167_S,PIAS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7983070,7983070,C,G,P237167_S,TGFBR3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGFBR3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9001759,9001759,G,A,P237167_S,MUC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17892361,17892361,G,A,P237167_S,FCHO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCHO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,30414476,30414476,C,T,P237167_S,URI1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,URI1,dist=88,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35783257,35783257,G,A,P237167_S,MAG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45781129,45781129,A,G,P237167_S,MARK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46214507,46214507,G,A,P237167_S,FBXO46,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FBXO46,NM_001329634:c.*435C>T;NM_001329632:c.*435C>T;NM_001329633:c.*435C>T;NM_001080469:c.*435C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48976759,48976759,A,G,P237167_S,CYTH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52507109,52507109,G,A,P237167_S,ZNF615,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF615,NM_001199324:c.-145C>T;NM_001321319:c.-145C>T;NM_001321320:c.-145C>T;NM_001321321:c.-145C>T;NM_001321322:c.-145C>T;NM_198480:c.-145C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56663023,56663023,T,C,P237167_S,ZNF444,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF444,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57742455,57742455,C,G,P237167_S,AURKC,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,AURKC,NM_001015879:c.-27C>G;NM_003160:c.-699C>G;NM_001015878:c.-162C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57834829,57834829,G,A,P237167_S,ZNF543,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF543,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31962148,31962148,C,A,P237167_S,CDK5RAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK5RAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47244175,47244175,C,T,P237167_S,PREX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18779756,18779756,C,T,P237167_S,GGT3P,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,GGT3P,dist=282,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23959752,23959752,G,A,P237167_S,DRICH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRICH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26849424,26849424,A,G,P237167_S,HPS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26924149,26924149,C,T,P237167_S,TPST2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPST2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35797470,35797470,G,A,P237167_S,MCM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37209537,37209537,C,T,P237167_S,PVALB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PVALB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38529061,38529061,G,A,P237167_S,PLA2G6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42962186,42962186,C,T,P237167_S,SERHL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERHL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46709694,46709694,G,A,P237167_S,GTSE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTSE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50599585,50599585,C,T,P237167_S,MOV10L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOV10L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16716969,16716969,C,T,P237167_S,CTPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,37665912,37665912,G,A,P237167_S,CYBB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYBB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48629313,48629313,C,T,P237167_S,GLOD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLOD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54019098,54019098,C,T,P237167_S,PHF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,154250613,154250613,G,A,P237167_S,F8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,14673,14673,G,C,P238571_F,WASH7P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH7P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16959698,16959698,G,A,P238571_F,CROCCP2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CROCCP2;MST1P2,dist=2297;dist=12371,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55168470,55168470,C,T,P238571_F,MROH7-TTC4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MROH7-TTC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114391273,114391273,A,T,P238571_F,AP4B1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,AP4B1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148025979,148025979,G,A,P238571_F,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148873584,148873584,G,A,P238571_F,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148873588,148873588,A,T,P238571_F,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48952906,48952906,A,G,P238571_F,LHCGR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LHCGR;STON1-GTF2A1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,132044753,132044753,A,C,P238571_F,LOC440910,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC440910,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148804023,148804023,G,A,P238571_F,HLTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,167745299,167745299,C,T,P238571_F,GOLIM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLIM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,144801408,144801408,T,C,P238571_F,GYPE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYPE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,144801409,144801409,G,A,P238571_F,GYPE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYPE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,21483287,21483287,C,G,P238571_F,GUSBP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUSBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68930854,68930854,G,C,P238571_F,GTF2H2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GTF2H2B;GUSBP3,dist=39799;dist=4436,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68931069,68931069,G,C,P238571_F,GTF2H2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GTF2H2B;GUSBP3,dist=40014;dist=4221,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26867738,26867738,A,G,P238571_F,GUSBP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUSBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,53159367,53159367,T,C,P238571_F,ELOVL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELOVL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,64023378,64023378,G,C,P238571_F,ZNF680,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF680,NM_178558:c.-46C>G;NM_001130022:c.-46C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,74172400,74172400,A,T,P238571_F,GTF2I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129948091,129948091,C,G,P238571_F,CPA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142448106,142448106,G,T,P238571_F,MTRNR2L6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MTRNR2L6;PRSS1,dist=72581;dist=9217,NA,NA,NA,NA,NA,NA,NA,NA
chr8,250358,250358,A,T,P238571_F,ZNF596,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF596;FAM87A,dist=53018;dist=75573,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22432321,22432321,C,G,P238571_F,SORBS3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SORBS3,NM_005775:c.*80C>G;NM_001018003:c.*80C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr8,99215456,99215456,C,T,P238571_F,NIPAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,6565134,6565134,A,C,P238571_F,GLDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,13186513,13186513,C,T,P238571_F,MPDZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPDZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,45362606,45362606,G,T,P238571_F,LOC102723709,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC102723709;LOC107984035,dist=357316;dist=79279,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66457652,66457652,C,T,P238571_F,LINC01410,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01410,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69238176,69238176,C,T,P238571_F,CBWD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBWD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,78790226,78790226,T,C,P238571_F,PCSK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,90317909,90317909,A,G,P238571_F,DAPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,102068679,102068679,C,T,P238571_F,SEC61B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SEC61B;NAMA,dist=75782;dist=48943,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131821354,131821354,G,A,P238571_F,MIGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,49935475,49935475,T,C,P238571_F,WDFY4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDFY4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,69575985,69575985,T,G,P238571_F,DNAJC12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59665637,59665637,C,T,P238571_F,TCN1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TCN1;OOSP1,dist=31677;dist=44715,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61184059,61184059,T,C,P238571_F,CPSF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62529103,62529103,C,G,P238571_F,POLR2G,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,POLR2G,NM_002696:c.-18C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65146790,65146790,C,T,P238571_F,SLC25A45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65269934,65269934,T,G,P238571_F,MALAT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MALAT1;TALAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66105897,66105897,G,A,P238571_F,BRMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121458975,121458975,C,T,P238571_F,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,92505,92505,C,T,P238571_F,WASH8P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,WASH8P;IQSEC3,dist=1242;dist=83428,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9465115,9465115,A,G,P238571_F,LOC642846,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC642846,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,65462722,65462722,A,G,P238571_F,WIF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133398450,133398450,A,C,P238571_F,GOLGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52482857,52482857,A,G,P238571_F,CCDC70,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CCDC70;ATP7B,dist=42489;dist=23949,NA,NA,NA,NA,NA,NA,NA,NA
chr14,19110183,19110183,A,T,P238571_F,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;OR11H12,dist=NONE;dist=267411,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101280949,101280949,G,A,P238571_F,MIR2392,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR2392,dist=38,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20642511,20642511,C,T,P238571_F,HERC2P3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HERC2P3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45669363,45669363,T,G,P238571_F,GATM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GATM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74363209,74363209,G,A,P238571_F,GOLGA6A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GOLGA6A,NM_001038640:c.*42C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,5143384,5143384,T,C,P238571_F,EEF2KMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEF2KMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14916567,14916567,A,C,P238571_F,ABCC6P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ABCC6P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20339071,20339071,A,G,P238571_F,GP2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,GP2,dist=236,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28995380,28995380,C,T,P238571_F,SPNS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPNS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74422768,74422768,A,T,P238571_F,NPIPB15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPIPB15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7574035,7574035,T,A,P238571_F,TP53,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TP53,NM_001126117:exon7:c.658-2A>T;NM_001126117:exon7:UTR3;NM_001126116:exon7:c.731-2A>T;NM_001126116:exon7:UTR3;NM_000546:exon10:c.994-2A>T;NM_001126115:exon6:c.598-2A>T;NM_001126112:exon10:c.994-2A>T;NM_001126113:exon11:c.1054-2A>T;NM_001126113:exon11:UTR3;NM_001276697:exon6:c.517-2A>T;NM_001276696:exon11:c.1010-2A>T;NM_001276696:exon11:UTR3;NM_001276699:exon7:c.577-2A>T;NM_001276699:exon7:UTR3;NM_001276698:exon7:c.650-2A>T;NM_001276698:exon7:UTR3;NM_001276761:exon10:c.877-2A>T;NM_001276760:exon10:c.877-2A>T;NM_001126118:exon9:c.877-2A>T;NM_001126114:exon11:c.1127-2A>T;NM_001126114:exon11:UTR3;NM_001276695:exon11:c.937-2A>T;NM_001276695:exon11:UTR3,NA,NA,.,.,D,.,.,.
chr17,19533889,19533889,T,A,P238571_F,SLC47A1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC47A1;ALDH3A2,dist=51542;dist=17574,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44076508,44076508,T,G,P238571_F,MAPT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57050425,57050425,C,T,P238571_F,PPM1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPM1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,10681533,10681533,A,T,P238571_F,PIEZO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIEZO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12997980,12997980,T,C,P238571_F,KLF1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KLF1,NM_006563:c.-26A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54723995,54723995,G,C,P238571_F,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61386019,61386019,G,A,P238571_F,NTSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47407505,47407505,C,A,P238571_F,COL6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42956322,42956322,C,T,P238571_F,SERHL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERHL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16848055,16848055,A,C,P238571_F,TXLNG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXLNG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,72783441,72783441,T,A,P238571_F,CHIC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHIC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152958208,152958208,G,A,P238571_F,SLC6A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,672063,672063,A,G,P238571_S,LOC100133331,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100133331;LOC100288069,dist=6332;dist=28182,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2434834,2434834,G,A,P238571_S,PLCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,4771874,4771874,C,T,P238571_S,AJAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AJAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23767503,23767503,G,A,P238571_S,ASAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23768100,23768100,G,T,P238571_S,ASAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23768275,23768275,G,C,P238571_S,ASAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23768293,23768293,G,C,P238571_S,ASAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23768551,23768551,G,T,P238571_S,ASAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23768552,23768552,G,A,P238571_S,ASAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23768629,23768629,G,C,P238571_S,ASAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23769360,23769360,G,A,P238571_S,ASAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,57186036,57186036,G,C,P238571_S,FYB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FYB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186099008,186099008,C,G,P238571_S,HMCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,246942280,246942280,G,A,P238571_S,SCCPDH,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SCCPDH;LINC01341,dist=10841;dist=10639,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3596622,3596622,A,C,P238571_S,RNASEH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNASEH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97784048,97784048,G,A,P238571_S,ANKRD36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851755,118851755,T,G,P238571_S,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,132044753,132044753,A,C,P238571_S,LOC440910,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC440910,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241700859,241700859,C,T,P238571_S,KIF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130409240,130409240,T,C,P238571_S,PIK3R4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3R4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,137940870,137940870,A,T,P238571_S,ARMC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141291986,141291986,C,G,P238571_S,RASA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148804023,148804023,G,A,P238571_S,HLTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195347129,195347129,G,A,P238571_S,APOD,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,APOD;LOC105374297,dist=36318;dist=26377,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55565737,55565737,A,G,P238571_S,KIT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,748300,748300,C,T,P238571_S,ZDHHC11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC11B,NA,NA,NA,.,.,N,.,.,.
chr5,1064143,1064143,C,T,P238571_S,SLC12A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,56255213,56255213,G,A,P238571_S,MIER3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIER3;GPBP1,dist=7256;dist=214562,NA,NA,.,.,.,.,D,T
chr5,68930854,68930854,G,C,P238571_S,GTF2H2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GTF2H2B;GUSBP3,dist=39799;dist=4436,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132052439,132052439,A,G,P238571_S,KIF3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150931185,150931185,A,G,P238571_S,FAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,53159367,53159367,T,C,P238571_S,ELOVL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELOVL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160132507,160132507,A,G,P238571_S,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,64023378,64023378,G,C,P238571_S,ZNF680,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF680,NM_178558:c.-46C>G;NM_001130022:c.-46C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,117254560,117254560,G,C,P238571_S,CFTR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFTR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,94147799,94147799,A,G,P238571_S,C8orf87,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C8orf87,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,99215456,99215456,C,T,P238571_S,NIPAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145622236,145622236,G,A,P238571_S,CPSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,18826530,18826530,C,A,P238571_S,ADAMTSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,49935475,49935475,T,C,P238571_S,WDFY4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDFY4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1891454,1891454,C,T,P238571_S,LSP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60786721,60786721,C,G,P238571_S,CD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121458975,121458975,C,T,P238571_S,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,92505,92505,C,T,P238571_S,WASH8P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,WASH8P;IQSEC3,dist=1242;dist=83428,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9465115,9465115,A,G,P238571_S,LOC642846,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC642846,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10069427,10069427,C,T,P238571_S,CLEC2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,32260689,32260689,G,A,P238571_S,BICD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BICD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58196203,58196203,C,G,P238571_S,AVIL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AVIL;TSFM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,63543578,63543578,T,A,P238571_S,AVPR1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AVPR1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132632548,132632548,C,T,P238571_S,NOC4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOC4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95192582,95192582,G,A,P238571_S,SERPINA13P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SERPINA13P;GSC,dist=79251;dist=41978,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105963657,105963657,G,A,P238571_S,TEDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20642511,20642511,C,T,P238571_S,HERC2P3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HERC2P3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25444765,25444765,G,C,P238571_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,27777707,27777707,A,G,P238571_S,GABRG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,38258892,38258892,A,C,P238571_S,TMCO5A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMCO5A,NM_001330255:c.*48A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44021057,44021057,T,C,P238571_S,STRCP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,STRCP1;CATSPER2P1,dist=10599;dist=7089,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45123962,45123962,G,A,P238571_S,SORD2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SORD2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72954577,72954577,C,G,P238571_S,GOLGA6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,77234115,77234115,A,T,P238571_S,RCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102294282,102294282,A,G,P238571_S,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=7209;dist=51641,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102303139,102303139,A,C,P238571_S,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=16066;dist=42784,NA,NA,NA,NA,NA,NA,NA,NA
chr16,12031461,12031461,C,T,P238571_S,NPIPB2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NPIPB2,NM_001355514:c.-4020G>A,NA,NA,T,.,.,T,N,T
chr16,14403100,14403100,T,C,P238571_S,MIR193BHG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR193BHG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15069080,15069080,C,G,P238571_S,PDXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,17232517,17232517,A,C,P238571_S,LOC102723692,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC102723692,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69147455,69147455,G,A,P238571_S,HAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7574035,7574035,T,A,P238571_S,TP53,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TP53,NM_001126117:exon7:c.658-2A>T;NM_001126117:exon7:UTR3;NM_001126116:exon7:c.731-2A>T;NM_001126116:exon7:UTR3;NM_000546:exon10:c.994-2A>T;NM_001126115:exon6:c.598-2A>T;NM_001126112:exon10:c.994-2A>T;NM_001126113:exon11:c.1054-2A>T;NM_001126113:exon11:UTR3;NM_001276697:exon6:c.517-2A>T;NM_001276696:exon11:c.1010-2A>T;NM_001276696:exon11:UTR3;NM_001276699:exon7:c.577-2A>T;NM_001276699:exon7:UTR3;NM_001276698:exon7:c.650-2A>T;NM_001276698:exon7:UTR3;NM_001276761:exon10:c.877-2A>T;NM_001276760:exon10:c.877-2A>T;NM_001126118:exon9:c.877-2A>T;NM_001126114:exon11:c.1127-2A>T;NM_001126114:exon11:UTR3;NM_001276695:exon11:c.937-2A>T;NM_001276695:exon11:UTR3,NA,NA,.,.,D,.,.,.
chr17,16321230,16321230,C,G,P238571_S,TRPV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34313537,34313537,G,T,P238571_S,CCL15-CCL14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCL15-CCL14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44076508,44076508,T,G,P238571_S,MAPT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78286785,78286785,C,G,P238571_S,RNF213,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF213,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14796184,14796184,G,C,P238571_S,ANKRD30B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD30B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61585359,61585359,A,T,P238571_S,SERPINB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1089999,1089999,T,G,P238571_S,POLR2E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17264945,17264945,C,T,P238571_S,MYO9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34663433,34663433,T,G,P238571_S,LSM14A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LSM14A,NM_001114093:c.-115T>G;NM_015578:c.-115T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54778707,54778707,T,G,P238571_S,LILRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55699548,55699548,G,C,P238571_S,PTPRH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,264471,264471,C,T,P238571_S,C20orf96,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C20orf96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,17596479,17596479,C,T,P238571_S,RRBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33563345,33563345,A,G,P238571_S,MYH7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62508311,62508311,C,A,P238571_S,TPD52L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPD52L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47407505,47407505,C,A,P238571_S,COL6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,16914163,16914163,C,T,P238571_S,OR11H1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR11H1;CCT8L2,dist=464359;dist=157478,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23247000,23247000,T,C,P238571_S,IGLL5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IGLL5;RSPH14,dist=8709;dist=154593,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42970830,42970830,G,C,P238571_S,RRP7BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RRP7BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54961231,54961231,G,A,P238571_S,PFKFB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKFB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70325744,70325744,G,T,P238571_S,CXorf65,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXorf65,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152135674,152135674,A,C,P238571_S,ZNF185,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF185,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152938169,152938169,G,A,P238571_S,PNCK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNCK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1688120,1688120,G,A,P243757_F,NADK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NADK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7826653,7826653,G,A,P243757_F,CAMTA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAMTA1,NM_001349608:c.*102G>A;NM_015215:c.*102G>A;NM_001349610:c.*102G>A;NM_001349612:c.*102G>A;NM_001349609:c.*71G>A;NM_001349614:c.*71G>A;NM_001349620:c.*102G>A;NM_001349621:c.*71G>A;NM_001349623:c.*71G>A;NM_001349625:c.*102G>A;NM_001349617:c.*102G>A;NM_001349613:c.*71G>A;NM_001349619:c.*102G>A;NM_001349622:c.*71G>A;NM_001349616:c.*102G>A;NM_001349618:c.*102G>A;NM_001349615:c.*71G>A;NM_001349626:c.*102G>A;NM_001349624:c.*71G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15623038,15623038,A,C,P243757_F,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15901113,15901113,G,T,P243757_F,AGMAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGMAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893603,16893603,T,C,P243757_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17964295,17964295,A,G,P243757_F,ARHGEF10L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF10L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28817981,28817981,C,A,P243757_F,PHACTR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHACTR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32119377,32119377,T,C,P243757_F,COL16A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL16A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41223211,41223211,G,A,P243757_F,NFYC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43828538,43828538,C,A,P243757_F,CDC20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45472840,45472840,T,G,P243757_F,HECTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54269524,54269524,T,G,P243757_F,NDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92786098,92786098,G,A,P243757_F,RPAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94033491,94033491,G,C,P243757_F,BCAR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,96458139,96458139,G,A,P243757_F,LINC02790,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02790,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114511380,114511380,C,T,P243757_F,HIPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120539260,120539260,A,G,P243757_F,NOTCH2NLR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,NOTCH2NLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161201309,161201309,C,T,P243757_F,NR1I3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR1I3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,166974295,166974295,G,T,P243757_F,MAEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168218764,168218764,A,G,P243757_F,SFT2D2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SFT2D2,NM_199344:c.*6986A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176671914,176671914,A,T,P243757_F,PAPPA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202269802,202269802,G,A,P243757_F,LGR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202269806,202269806,G,A,P243757_F,LGR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207241463,207241463,C,G,P243757_F,PFKFB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKFB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,215803352,215803352,T,C,P243757_F,USH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3217869,3217869,G,T,P243757_F,EIPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3651177,3651177,A,G,P243757_F,COLEC11,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,COLEC11,NM_001255985:c.-59A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,28764738,28764738,T,G,P243757_F,PLB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42996746,42996746,A,T,P243757_F,HAAO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAAO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48018293,48018293,T,G,P243757_F,MSH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61415153,61415153,C,A,P243757_F,AHSA2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AHSA2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70165156,70165156,A,G,P243757_F,MXD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MXD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96685085,96685085,G,A,P243757_F,FAHD2CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAHD2CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111526092,111526092,A,T,P243757_F,ACOXL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113766140,113766140,A,G,P243757_F,IL36A,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,IL36A,dist=519,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851755,118851755,T,G,P243757_F,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160255568,160255568,G,A,P243757_F,BAZ2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAZ2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171850201,171850201,G,A,P243757_F,TLK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TLK1,NM_012290:c.*89C>T;NM_001136555:c.*89C>T;NM_001136554:c.*89C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202060504,202060504,A,G,P243757_F,CASP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206630093,206630093,T,C,P243757_F,NRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219362396,219362396,A,G,P243757_F,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219362404,219362404,A,G,P243757_F,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,230914666,230914666,T,C,P243757_F,SLC16A14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC16A14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,24206765,24206765,G,A,P243757_F,LOC101927854,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927854,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47618238,47618238,A,C,P243757_F,CSPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50310923,50310923,C,G,P243757_F,SEMA3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111732490,111732490,C,A,P243757_F,TAGLN3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TAGLN3,NM_013259:c.*92C>A;NM_001008272:c.*92C>A;NM_001008273:c.*92C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,114027084,114027084,A,G,P243757_F,TIGIT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TIGIT,NM_173799:c.*106A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,123051605,123051605,C,T,P243757_F,ADCY5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125694291,125694291,T,A,P243757_F,ROPN1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROPN1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130292702,130292702,C,T,P243757_F,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142422364,142422364,T,C,P243757_F,PLS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160560023,160560023,G,T,P243757_F,PPM1L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PPM1L,NM_001317911:c.-40G>T;NM_001317912:c.-119639G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164786431,164786431,T,G,P243757_F,SI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194219542,194219542,G,A,P243757_F,LINC00884,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00884;TMEM44-AS1,dist=10268;dist=85455,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196460544,196460544,G,A,P243757_F,PIGX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197421009,197421009,G,A,P243757_F,RUBCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUBCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197562523,197562523,G,T,P243757_F,LRCH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555394,20555394,A,G,P243757_F,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20884214,20884214,C,A,P243757_F,KCNIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57194183,57194183,G,A,P243757_F,KIAA1211,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KIAA1211,NM_020722:c.*213G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73933707,73933707,A,G,P243757_F,COX18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,85699883,85699883,T,C,P243757_F,WDFY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDFY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114468711,114468711,C,T,P243757_F,CAMK2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,123188215,123188215,T,G,P243757_F,KIAA1109,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1109,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,165981760,165981760,G,T,P243757_F,TRIM60,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM60;TMEM192,dist=18859;dist=10000,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904414,190904414,T,C,P243757_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20068;dist=41092,NA,NA,NA,NA,NA,NA,NA,NA
chr5,979427,979427,G,A,P243757_F,TRIP13,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIP13;LOC100506688,dist=61192;dist=7865,NA,NA,NA,NA,NA,NA,NA,NA
chr5,7820622,7820622,T,A,P243757_F,ADCY2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,24509595,24509595,G,A,P243757_F,CDH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38903970,38903970,C,T,P243757_F,OSMR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSMR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43120115,43120115,A,G,P243757_F,ZNF131,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ZNF131,dist=901,NA,NA,D,.,.,T,N,T
chr5,55472257,55472257,C,T,P243757_F,ANKRD55,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,83433038,83433038,T,C,P243757_F,EDIL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDIL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,118877544,118877544,G,A,P243757_F,HSD17B4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140053968,140053968,C,T,P243757_F,HARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177717207,177717207,C,A,P243757_F,COL23A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL23A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623922,55623922,T,C,P243757_F,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56557501,56557501,G,A,P243757_F,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57433525,57433525,T,G,P243757_F,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57433544,57433544,G,A,P243757_F,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,76589526,76589526,C,G,P243757_F,MYO6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,100957719,100957719,G,C,P243757_F,ASCC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASCC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135523748,135523748,T,C,P243757_F,MYB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYB,NA,NA,NA,D,.,N,T,N,T
chr6,135523774,135523774,A,G,P243757_F,MYB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYB,NA,NA,NA,D,.,P,T,N,T
chr6,139167858,139167858,G,T,P243757_F,ECT2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECT2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160483473,160483473,A,G,P243757_F,IGF2R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGF2R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20785082,20785082,T,C,P243757_F,ABCB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,29976388,29976388,C,T,P243757_F,SCRN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCRN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,41740067,41740067,A,T,P243757_F,INHBA-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,INHBA-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,55214177,55214177,G,A,P243757_F,EGFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EGFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72281001,72281001,C,T,P243757_F,TYW1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72989151,72989151,C,A,P243757_F,TBL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73795797,73795797,A,G,P243757_F,CLIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,86522420,86522420,T,A,P243757_F,KIAA1324L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1324L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94944589,94944589,G,T,P243757_F,PON1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PON1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392911,107392911,C,G,P243757_F,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128291286,128291286,A,G,P243757_F,LINC01000,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01000,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138363581,138363581,A,C,P243757_F,SVOPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVOPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141861141,141861141,C,T,P243757_F,MGAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6679329,6679329,C,A,P243757_F,XKR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XKR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,7877574,7877574,C,T,P243757_F,FAM66E,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM66E;MIR548I3,dist=11297;dist=68889,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12232048,12232048,T,G,P243757_F,FAM66A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM66A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17808112,17808112,A,G,P243757_F,PCM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,28362877,28362877,A,T,P243757_F,FZD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FZD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,72958705,72958705,G,A,P243757_F,MSC-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MSC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,77690746,77690746,A,C,P243757_F,ZFHX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFHX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125589758,125589758,A,G,P243757_F,MTSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,741983,741983,G,A,P243757_F,KANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,19125897,19125897,A,G,P243757_F,PLIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79244027,79244027,A,G,P243757_F,PRUNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRUNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79966425,79966425,T,C,P243757_F,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95571968,95571968,G,A,P243757_F,ANKRD19P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ANKRD19P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113530036,113530036,G,A,P243757_F,MUSK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUSK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124922165,124922165,G,A,P243757_F,MORN5,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MORN5;NDUFA8,dist=22,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130466803,130466803,G,A,P243757_F,STXBP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,STXBP1;CFAP157,dist=11588;dist=2464,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131245194,131245194,T,G,P243757_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137982232,137982232,T,G,P243757_F,OLFM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OLFM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75294262,75294262,T,C,P243757_F,USP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102265084,102265084,A,C,P243757_F,SEC31B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC31B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103348031,103348031,G,A,P243757_F,DPCD,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DPCD;POLL,dist=47,NA,NA,NA,NA,NA,NA,NA,NA
chr10,120867734,120867734,T,C,P243757_F,DENND10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124273474,124273474,T,C,P243757_F,HTRA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46699480,46699480,G,A,P243757_F,ARHGAP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARHGAP1,NM_004308:c.*1107C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61054013,61054013,G,A,P243757_F,VWCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64835661,64835661,C,A,P243757_F,NAALADL1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NAALADL1;CDCA5,dist=9636;dist=9264,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65715778,65715778,T,C,P243757_F,TSGA10IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSGA10IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67197288,67197288,A,T,P243757_F,RPS6KB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102575163,102575163,G,A,P243757_F,MMP27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107943202,107943202,T,C,P243757_F,CUL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124957807,124957807,T,C,P243757_F,SLC37A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC37A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125851255,125851255,G,A,P243757_F,CDON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130103878,130103878,T,G,P243757_F,ZBTB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB44,NM_014155:c.*280A>C;NM_001370219:c.*8A>C;NM_001370220:c.*8A>C;NM_001370221:c.*280A>C;NM_001370222:c.*8A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6955873,6955873,C,A,P243757_F,GNB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10146005,10146005,C,A,P243757_F,CLEC1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15813477,15813477,T,C,P243757_F,EPS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27877209,27877209,T,C,P243757_F,MRPS35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPS35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,33579035,33579035,G,A,P243757_F,SYT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51718483,51718483,T,C,P243757_F,BIN2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,BIN2,dist=31,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54797643,54797643,G,A,P243757_F,LOC102724050,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724050,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101746042,101746042,A,G,P243757_F,UTP20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110009324,110009324,C,T,P243757_F,MMAB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMAB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110729732,110729732,C,G,P243757_F,ATP2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113595641,113595641,C,T,P243757_F,DDX54,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DDX54,NM_001111322:c.*1041G>A;NM_024072:c.*1041G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120994905,120994905,G,A,P243757_F,RNF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122760782,122760782,C,T,P243757_F,CLIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,28001452,28001452,T,C,P243757_F,GTF3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99461543,99461543,G,T,P243757_F,DOCK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,112763221,112763221,G,A,P243757_F,SOX1-OT,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,SOX1-OT,dist=892,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21026640,21026640,G,A,P243757_F,RNASE9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNASE9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21555082,21555082,G,A,P243757_F,ARHGEF40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24710618,24710618,T,C,P243757_F,TINF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TINF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75377854,75377854,C,T,P243757_F,RPS6KL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75377865,75377865,A,G,P243757_F,RPS6KL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102024953,102024953,C,T,P243757_F,DIO3OS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DIO3OS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25222877,25222877,A,T,P243757_F,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41487879,41487879,T,A,P243757_F,EXD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41799053,41799053,T,G,P243757_F,LTK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64437851,64437851,A,G,P243757_F,SNX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SNX1;SNX22,dist=1423;dist=6079,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65680780,65680780,C,T,P243757_F,IGDCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGDCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72645271,72645271,T,C,P243757_F,HEXA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEXA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75134810,75134810,T,C,P243757_F,ULK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ULK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90794646,90794646,G,A,P243757_F,TTLL13P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TTLL13P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102304747,102304747,A,C,P243757_F,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=17674;dist=41176,NA,NA,NA,NA,NA,NA,NA,NA
chr16,6704470,6704470,C,T,P243757_F,RBFOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15501612,15501612,C,A,P243757_F,MPV17L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPV17L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,17432515,17432515,T,C,P243757_F,XYLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XYLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21360818,21360818,G,A,P243757_F,SNX29P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNX29P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22337628,22337628,T,G,P243757_F,POLR3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27556589,27556589,T,C,P243757_F,GTF3C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29979164,29979164,T,C,P243757_F,TMEM219,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM219,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50757066,50757066,G,A,P243757_F,NOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816454,50816454,C,T,P243757_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816460,50816460,A,T,P243757_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,59773778,59773778,C,A,P243757_F,GOT2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GOT2;APOOP5,dist=1005558;dist=14267,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70548119,70548119,G,A,P243757_F,COG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74666297,74666297,C,A,P243757_F,RFWD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFWD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1438441,1438441,G,A,P243757_F,PITPNA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2304049,2304049,G,A,P243757_F,MNT,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MNT,NM_020310:c.-43C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3417368,3417368,C,T,P243757_F,TRPV3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4641432,4641432,T,A,P243757_F,CXCL16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXCL16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18111822,18111822,G,T,P243757_F,ALKBH5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ALKBH5,NM_017758:c.*112G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19704958,19704958,G,A,P243757_F,ULK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ULK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42456876,42456876,T,C,P243757_F,ITGA2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46847530,46847530,A,T,P243757_F,TTLL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,49084501,49084501,C,T,P243757_F,SPAG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58289507,58289507,T,C,P243757_F,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73686690,73686690,C,T,P243757_F,SAP30BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAP30BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74057780,74057780,A,G,P243757_F,SRP68,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76188675,76188675,A,G,P243757_F,AFMID,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFMID,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76198402,76198402,T,C,P243757_F,AFMID,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFMID,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76732535,76732535,T,C,P243757_F,CYTH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79604562,79604562,T,C,P243757_F,TSPAN10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19678428,19678428,A,G,P243757_F,MIB1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIB1;GATA6-AS1,dist=227510;dist=68431,NA,NA,NA,NA,NA,NA,NA,NA
chr19,875184,875184,T,A,P243757_F,MED16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2401885,2401885,T,C,P243757_F,TMPRSS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3622990,3622990,C,T,P243757_F,CACTIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACTIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5684215,5684215,T,C,P243757_F,HSD11B1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD11B1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5684301,5684301,C,A,P243757_F,HSD11B1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD11B1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10694846,10694846,G,A,P243757_F,AP1M2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP1M2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11657438,11657438,C,T,P243757_F,CNN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12780108,12780108,C,T,P243757_F,WDR83,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR83;WDR83OS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14203889,14203889,G,A,P243757_F,PRKACA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRKACA,NM_001304349:c.*35C>T;NM_002730:c.*35C>T;NM_207518:c.*35C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15164192,15164192,C,T,P243757_F,CASP14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16535764,16535764,A,G,P243757_F,EPS15L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS15L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17411538,17411538,C,T,P243757_F,ABHD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABHD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17679526,17679526,C,T,P243757_F,COLGALT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLGALT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18197754,18197754,G,A,P243757_F,IL12RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL12RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19379677,19379677,A,G,P243757_F,TM6SF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM6SF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19427471,19427471,G,A,P243757_F,SUGP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUGP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33586592,33586592,T,G,P243757_F,GPATCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49983884,49983884,C,T,P243757_F,FLT3LG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLT3LG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58444988,58444988,T,C,P243757_F,ZNF418,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF418,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58564605,58564605,A,G,P243757_F,ZSCAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58564614,58564614,T,C,P243757_F,ZSCAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1538348,1538348,G,A,P243757_F,SIRPD,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SIRPD,NM_178460:c.-49C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,23858075,23858075,T,C,P243757_F,CST5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CST5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33896810,33896810,A,G,P243757_F,UQCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UQCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34260932,34260932,G,A,P243757_F,NFS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36917508,36917508,A,G,P243757_F,LOC149684,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,LOC149684,dist=160,NA,NA,D,.,N,T,N,T
chr20,45839262,45839262,C,T,P243757_F,ZMYND8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZMYND8,NM_183048:c.*144G>A;NM_001281775:c.*144G>A;NM_183047:c.*144G>A;NM_001281782:c.*144G>A;NM_001281783:c.*144G>A;NM_001281780:c.*144G>A;NM_001363741:c.*144G>A;NM_001281774:c.*144G>A;NM_001281771:c.*144G>A;NM_001363714:c.*144G>A;NM_001281772:c.*144G>A;NM_001281773:c.*144G>A;NM_001281778:c.*144G>A;NM_001281777:c.*144G>A;NM_001281779:c.*144G>A;NM_012408:c.*144G>A;NM_001281776:c.*144G>A;NM_001281784:c.*144G>A;NM_001281781:c.*144G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47867969,47867969,C,T,P243757_F,ZNFX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNFX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,49459023,49459023,A,G,P243757_F,BCAS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40883484,40883484,T,G,P243757_F,SH3BGR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3BGR;WRB-SH3BGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,42852575,42852575,C,T,P243757_F,TMPRSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43134428,43134428,G,A,P243757_F,LINC00479,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00479,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44452249,44452249,T,C,P243757_F,PKNOX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PKNOX1,NM_001286258:c.*2038T>C;NM_001320694:c.*2038T>C;NM_004571:c.*2038T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47545571,47545571,G,A,P243757_F,COL6A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17983719,17983719,C,T,P243757_F,CECR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CECR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17983753,17983753,T,G,P243757_F,CECR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CECR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18171658,18171658,T,C,P243757_F,BCL2L13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL2L13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21057415,21057415,T,C,P243757_F,TMEM191A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMEM191A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21057458,21057458,G,A,P243757_F,TMEM191A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMEM191A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26709570,26709570,G,A,P243757_F,SEZ6L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEZ6L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38308048,38308048,A,G,P243757_F,MICALL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICALL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38333721,38333721,A,G,P243757_F,MICALL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICALL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39003529,39003529,G,A,P243757_F,FAM227A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM227A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39498434,39498434,T,C,P243757_F,APOBEC3H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC3H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42341102,42341102,G,A,P243757_F,CENPM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CENPM,NM_001304371:c.*38C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45745476,45745476,T,A,P243757_F,SMC1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMC1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,51237211,51237211,C,T,P243757_F,RPL23AP82,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RPL23AP82,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,2772967,2772967,T,C,P243757_F,GYG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,57313628,57313628,G,A,P243757_F,FAAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70519700,70519700,A,G,P243757_F,NONO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NONO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,85767939,85767939,A,G,P243757_F,DACH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DACH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110490983,110490983,C,T,P243757_F,CAPN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,13524639,13524639,C,T,P243757_F,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;GYG2P1,dist=NONE;dist=993276,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9009542,9009542,G,A,P243757_S,CA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11250117,11250117,G,A,P243757_S,ANGPTL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPTL7;MTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16058836,16058836,C,T,P243757_S,PLEKHM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16891534,16891534,A,G,P243757_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19669252,19669252,C,T,P243757_S,CAPZB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAPZB,NM_001206540:c.*4G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32796589,32796589,C,T,P243757_S,HDAC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54637017,54637017,C,T,P243757_S,CYB5RL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYB5RL,NM_001031672:c.*3275G>A;NM_001353353:c.*3275G>A;NM_001353354:c.*3275G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,75677121,75677121,G,A,P243757_S,SLC44A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,95357736,95357736,C,T,P243757_S,SLC44A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109365727,109365727,C,T,P243757_S,AKNAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKNAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209666,145209666,C,T,P243757_S,NOTCH2NLR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NOTCH2NLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148873483,148873483,C,T,P243757_S,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157504109,157504109,C,T,P243757_S,FCRL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157773936,157773936,G,A,P243757_S,FCRL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160718416,160718416,G,A,P243757_S,SLAMF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLAMF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173961837,173961837,C,G,P243757_S,RC3H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RC3H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204945537,204945537,G,A,P243757_S,NFASC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFASC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,209605620,209605620,G,A,P243757_S,MIR205HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR205HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,216424163,216424163,C,T,P243757_S,USH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3598157,3598157,G,A,P243757_S,RNASEH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNASEH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85617843,85617843,C,T,P243757_S,ELMOD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMOD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101554060,101554060,C,T,P243757_S,NPAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114340511,114340511,G,A,P243757_S,WASH2P,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,WASH2P;MIR1302-3,dist=25;dist=25,NA,NA,NA,NA,NA,NA,NA,NA
chr2,138030259,138030259,G,A,P243757_S,THSD7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THSD7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152380720,152380720,C,T,P243757_S,NEB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,190444732,190444732,G,A,P243757_S,SLC40A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC40A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197854249,197854249,T,C,P243757_S,ANKRD44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANKRD44,NM_001367495:c.*1155A>G;NM_001367497:c.*1155A>G;NM_001195144:c.*66A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202283993,202283993,C,T,P243757_S,TRAK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,237076067,237076067,C,T,P243757_S,GBX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14106413,14106413,C,T,P243757_S,TPRXL,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TPRXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38649535,38649535,C,T,P243757_S,SCN5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47270058,47270058,C,T,P243757_S,KIF9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,KIF9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53213836,53213836,C,G,P243757_S,PRKCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53219112,53219112,G,A,P243757_S,PRKCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,123813618,123813618,C,T,P243757_S,KALRN,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KALRN,NM_001322988:c.-67C>T;NM_001024660:c.-67C>T;NM_001322992:c.-67C>T;NM_001322990:c.-67C>T;NM_001322991:c.-67C>T;NM_001322989:c.-67C>T;NM_003947:c.-67C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126215044,126215044,G,A,P243757_S,UROC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UROC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138091952,138091952,G,A,P243757_S,MRAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,178976846,178976846,G,A,P243757_S,KCNMB3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KCNMB3,NM_171829:c.-109C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183525789,183525789,G,A,P243757_S,YEATS2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,YEATS2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,141578112,141578112,G,A,P243757_S,TBC1D9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904414,190904414,T,C,P243757_S,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20068;dist=41092,NA,NA,NA,NA,NA,NA,NA,NA
chr5,306699,306699,C,T,P243757_S,AHRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHRR;PDCD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179292399,179292399,G,C,P243757_S,TBC1D9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,37138712,37138712,C,T,P243757_S,PIM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,76589526,76589526,C,G,P243757_S,MYO6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111368774,111368774,G,A,P243757_S,GSTM2P1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,GSTM2P1,dist=17,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72340901,72340901,G,C,P243757_S,SPDYE7P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SPDYE7P;POM121,dist=1245;dist=9027,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92151596,92151596,G,A,P243757_S,PEX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105672835,105672835,C,T,P243757_S,CDHR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150919878,150919878,G,A,P243757_S,ABCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCF2;LOC114483834,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27290947,27290947,C,T,P243757_S,MIR6842,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR6842,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27641691,27641691,G,A,P243757_S,ESCO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESCO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27922306,27922306,G,A,P243757_S,NUGGC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUGGC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62491476,62491476,G,A,P243757_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141744960,141744960,G,A,P243757_S,PTK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,102067560,102067560,G,A,P243757_S,SEC61B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SEC61B;NAMA,dist=74663;dist=50062,NA,NA,NA,NA,NA,NA,NA,NA
chr10,73498242,73498242,C,T,P243757_S,CDH23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99205892,99205892,G,A,P243757_S,ZDHHC16,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZDHHC16,NM_001287803:c.-5541G>A;NM_001287804:c.-5541G>A;NM_032327:c.-5541G>A;NM_198043:c.-5541G>A;NM_198044:c.-5541G>A;NM_198045:c.-5541G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99682949,99682949,C,T,P243757_S,CRTAC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRTAC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104243872,104243872,C,T,P243757_S,ACTR1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,116304635,116304635,C,T,P243757_S,ABLIM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABLIM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,119014932,119014932,G,A,P243757_S,SLC18A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC18A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,131762062,131762062,G,A,P243757_S,EBF3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EBF3,NM_001005463:c.-30C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,45234087,45234087,G,A,P243757_S,PRDM11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64608009,64608009,C,T,P243757_S,CDC42BPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107943202,107943202,T,C,P243757_S,CUL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117691551,117691551,C,T,P243757_S,FXYD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXYD2;FXYD6-FXYD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126124526,126124526,G,A,P243757_S,FAM118B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM118B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21609848,21609848,C,T,P243757_S,PYROXD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYROXD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46328359,46328359,G,A,P243757_S,SCAF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49729629,49729629,C,T,P243757_S,C1QL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57592957,57592957,C,T,P243757_S,LRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120532082,120532082,C,T,P243757_S,BICDL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BICDL1,NM_001367886:c.*1117C>T;NM_207311:c.*1117C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124922642,124922642,G,A,P243757_S,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,41936905,41936905,G,A,P243757_S,NAA16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,101717723,101717723,C,T,P243757_S,NALCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NALCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113485972,113485972,G,A,P243757_S,ATP11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23352619,23352619,G,A,P243757_S,REM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23882967,23882967,C,T,P243757_S,MYH7,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MYH7,NM_000257:exon39:c.5790+1G>A,NA,NA,.,.,D,.,.,.
chr14,91007662,91007662,C,T,P243757_S,TTC7B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TTC7B,NM_001010854:c.*50G>A;NM_001320421:c.*50G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91791101,91791101,C,T,P243757_S,CCDC88C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94408729,94408729,G,A,P243757_S,ASB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94421483,94421483,G,A,P243757_S,ASB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96775723,96775723,C,T,P243757_S,ATG2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104452399,104452399,C,T,P243757_S,TDRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25222877,25222877,A,T,P243757_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52548786,52548786,G,A,P243757_S,MYO5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74750996,74750996,C,T,P243757_S,UBL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78500545,78500545,G,A,P243757_S,ACSBG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSBG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102295647,102295647,C,A,P243757_S,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=8574;dist=50276,NA,NA,NA,NA,NA,NA,NA,NA
chr16,737775,737775,G,A,P243757_S,WDR24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30134339,30134339,C,T,P243757_S,MAPK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,33390329,33390329,G,C,P243757_S,LOC390705,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC390705;ENPP7P13,dist=91627;dist=181515,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70928259,70928259,C,T,P243757_S,HYDIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28887555,28887555,G,C,P243757_S,GOSR1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GOSR1;SMURF2P1-LRRC37BP1,dist=32945;dist=15928,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42811652,42811652,G,A,P243757_S,DBF4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBF4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,55079647,55079647,C,T,P243757_S,SCPEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCPEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80006589,80006589,G,A,P243757_S,RFNG,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RFNG,NM_002917:c.*13C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80919209,80919209,G,A,P243757_S,B3GNTL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B3GNTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77624331,77624331,G,A,P243757_S,KCNG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10367309,10367309,C,T,P243757_S,MRPL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12163969,12163969,C,T,P243757_S,ZNF878,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ZNF878,dist=193,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38643707,38643707,G,A,P243757_S,SIPA1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIPA1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41533104,41533104,G,A,P243757_S,CYP2B6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CYP2B6;CYP2A13,dist=8801;dist=61252,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41533181,41533181,A,G,P243757_S,CYP2B6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CYP2B6;CYP2A13,dist=8878;dist=61175,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50029507,50029507,C,T,P243757_S,FCGRT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FCGRT,NM_001136019:c.*131C>T;NM_004107:c.*131C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51009838,51009838,G,A,P243757_S,JOSD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JOSD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53352523,53352523,A,G,P243757_S,ZNF468,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF468,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54254684,54254684,G,A,P243757_S,MIR519A1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR519A1;MIR522,dist=967;dist=133,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54304411,54304411,C,T,P243757_S,NLRP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54657686,54657686,G,A,P243757_S,CNOT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35532754,35532754,G,A,P243757_S,SAMHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61467146,61467146,C,T,P243757_S,COL9A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61918803,61918803,C,T,P243757_S,ARFGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11021106,11021106,A,G,P243757_S,BAGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43963773,43963773,G,A,P243757_S,SLC37A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC37A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47582021,47582021,G,A,P243757_S,SPATC1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATC1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47628377,47628377,G,A,P243757_S,LSS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21057415,21057415,T,C,P243757_S,TMEM191A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMEM191A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21057458,21057458,G,A,P243757_S,TMEM191A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMEM191A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22661454,22661454,C,A,P243757_S,BMS1P20,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BMS1P20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31837018,31837018,G,A,P243757_S,EIF4ENIF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4ENIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44527525,44527525,G,A,P243757_S,PARVB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARVB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,13397443,13397443,G,A,P243757_S,LINC01203,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01203;EGFL6,dist=37499;dist=190277,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70524539,70524539,G,A,P243757_S,ITGB1BP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB1BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153056436,153056436,G,A,P243757_S,IDH3G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDH3G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153357574,153357574,T,A,P243757_S,MECP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MECP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1477244,1477244,T,C,P243757_T,SSU72,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SSU72,NM_014188:c.*202A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1575836,1575836,C,G,P243757_T,CDK11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12049178,12049178,G,A,P243757_T,MFN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12069798,12069798,T,C,P243757_T,MFN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12082583,12082583,T,C,P243757_T,MIIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22211217,22211217,G,A,P243757_T,HSPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23885599,23885599,T,C,P243757_T,ID3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ID3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24485941,24485941,T,C,P243757_T,IFNLR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFNLR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25611035,25611035,G,C,P243757_T,RHD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHD;RSRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25785451,25785451,A,G,P243757_T,MACO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45242532,45242532,G,A,P243757_T,RPS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65117762,65117762,A,G,P243757_T,CACHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109103207,109103207,G,T,P243757_T,FAM102B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM102B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,116676035,116676035,A,C,P243757_T,MAB21L3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAB21L3,NM_152367:c.*49A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120311587,120311587,C,T,P243757_T,HMGCS2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,HMGCS2,dist=32,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148873483,148873483,C,T,P243757_T,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150679358,150679358,C,T,P243757_T,HORMAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HORMAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150730184,150730184,C,A,P243757_T,CTSS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTSS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151747799,151747799,G,A,P243757_T,TDRKH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRKH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151783736,151783736,G,A,P243757_T,RORC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RORC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,152975495,152975495,G,A,P243757_T,SPRR3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SPRR3,NM_005416:c.-2G>A;NM_001097589:c.-2G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154442701,154442701,G,A,P243757_T,IL6R,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,IL6R,dist=775,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156706403,156706403,T,C,P243757_T,RRNAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRNAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,163142537,163142537,G,A,P243757_T,LOC101928404,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928404,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,163142555,163142555,G,A,P243757_T,LOC101928404,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928404,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,171761458,171761458,T,C,P243757_T,EEF1AKNMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEF1AKNMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,175053101,175053101,A,T,P243757_T,TNN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,180991665,180991665,C,G,P243757_T,STX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183084607,183084607,A,G,P243757_T,LAMC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196398619,196398619,T,C,P243757_T,KCNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196757874,196757874,G,A,P243757_T,CFHR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFHR3,NA,NA,NA,.,.,P,.,.,.
chr1,196757881,196757881,G,T,P243757_T,CFHR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFHR3,NA,NA,NA,D,.,P,T,D,T
chr1,202735879,202735879,C,A,P243757_T,KDM5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207495517,207495517,C,T,P243757_T,CD55,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226075473,226075473,C,G,P243757_T,LEFTY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LEFTY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228391591,228391591,G,C,P243757_T,OBSCN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OBSCN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,234510262,234510262,A,G,P243757_T,COA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,25047408,25047408,A,G,P243757_T,ADCY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,29366830,29366830,A,G,P243757_T,CLIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31605844,31605844,G,A,P243757_T,XDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37255015,37255015,G,A,P243757_T,HEATR5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55915034,55915034,G,A,P243757_T,PNPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69330118,69330118,A,G,P243757_T,ANTXR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANTXR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70164034,70164034,T,C,P243757_T,MXD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MXD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71160421,71160421,G,C,P243757_T,VAX2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,VAX2,NM_012476:c.*87G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99175879,99175879,T,C,P243757_T,INPP4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,106742177,106742177,T,A,P243757_T,UXS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UXS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,109988215,109988215,C,G,P243757_T,SH3RF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3RF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,130987919,130987919,G,A,P243757_T,TUBA3E,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TUBA3E;CCDC115,dist=31907;dist=107587,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136552188,136552188,G,A,P243757_T,LCT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,159312725,159312725,C,G,P243757_T,CCDC148,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC148,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160075711,160075711,T,G,P243757_T,TANC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TANC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160114186,160114186,G,A,P243757_T,WDSUB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDSUB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165583522,165583522,G,A,P243757_T,COBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,167162277,167162277,G,A,P243757_T,SCN9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171693166,171693166,A,G,P243757_T,GAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179682415,179682415,G,A,P243757_T,TTN,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TTN;CCDC141,dist=10265;dist=12069,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179770286,179770286,G,A,P243757_T,CCDC141,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC141,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197854249,197854249,T,C,P243757_T,ANKRD44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANKRD44,NM_001367495:c.*1155A>G;NM_001367497:c.*1155A>G;NM_001195144:c.*66A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202151781,202151781,T,C,P243757_T,CASP8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CASP8,NM_001228:c.*464T>C;NM_033355:c.*464T>C;NM_001080124:c.*464T>C;NM_001080125:c.*464T>C;NM_033356:c.*464T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202245955,202245955,A,G,P243757_T,TRAK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217541426,217541426,C,T,P243757_T,IGFBP5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IGFBP5,NM_000599:c.*48G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217541437,217541437,G,A,P243757_T,IGFBP5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IGFBP5,NM_000599:c.*37C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231157527,231157527,G,A,P243757_T,SP140,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238462324,238462324,A,G,P243757_T,MLPH,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MLPH,NM_001281474:c.*89A>G;NM_001042467:c.*89A>G;NM_001281473:c.*89A>G;NM_024101:c.*89A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241814442,241814442,C,T,P243757_T,AGXT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGXT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241816545,241816545,C,T,P243757_T,AGXT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGXT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9768336,9768336,C,G,P243757_T,CPNE9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,11596348,11596348,C,T,P243757_T,ATG7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ATG7,NM_006395:c.*31C>T;NM_001349232:c.*31C>T;NM_001349233:c.*31C>T;NM_001144912:c.*31C>T;NM_001349234:c.*31C>T;NM_001349235:c.*31C>T;NM_001349236:c.*31C>T;NM_001349237:c.*31C>T;NM_001136031:c.*31C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,13523010,13523010,T,C,P243757_T,HDAC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,16264037,16264037,T,A,P243757_T,GALNT15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,24206765,24206765,G,A,P243757_T,LOC101927854,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927854,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44827793,44827793,T,C,P243757_T,KIF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,64627317,64627317,T,A,P243757_T,ADAMTS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126222789,126222789,C,T,P243757_T,UROC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UROC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,146179411,146179411,C,T,P243757_T,PLSCR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLSCR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148586605,148586605,A,G,P243757_T,CPA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,173323278,173323278,A,G,P243757_T,NLGN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLGN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186505706,186505706,A,C,P243757_T,EIF4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186969634,186969634,A,G,P243757_T,MASP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MASP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194181329,194181329,C,T,P243757_T,ATP13A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195925458,195925458,A,C,P243757_T,ZDHHC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1389338,1389338,C,T,P243757_T,UVSSA,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,UVSSA;NKX1-1,dist=7501;dist=7382,NA,NA,T,.,N,T,D,T
chr4,8047099,8047099,C,T,P243757_T,ABLIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABLIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,10020757,10020757,A,G,P243757_T,SLC2A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25316886,25316886,C,A,P243757_T,ZCCHC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25407356,25407356,A,G,P243757_T,ANAPC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANAPC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25780891,25780891,A,G,P243757_T,SEL1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEL1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25803830,25803830,A,G,P243757_T,SEL1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEL1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,26491117,26491117,A,T,P243757_T,CCKAR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCKAR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,44631587,44631587,A,G,P243757_T,YIPF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YIPF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47880494,47880494,G,A,P243757_T,LOC101927179,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927179,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,54248418,54248418,A,G,P243757_T,FIP1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FIP1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55125058,55125058,A,T,P243757_T,PDGFRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDGFRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74349867,74349867,A,G,P243757_T,AFM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74361254,74361254,T,C,P243757_T,AFM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83825823,83825823,A,G,P243757_T,THAP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THAP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100341643,100341643,G,A,P243757_T,ADH7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,154509090,154509090,A,T,P243757_T,TMEM131L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM131L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,172735897,172735897,C,G,P243757_T,GALNTL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNTL6,NA,NA,NA,D,.,P,.,N,T
chr4,185578229,185578229,G,T,P243757_T,PRIMPOL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIMPOL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904414,190904414,T,C,P243757_T,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20068;dist=41092,NA,NA,NA,NA,NA,NA,NA,NA
chr5,31483596,31483596,G,A,P243757_T,DROSHA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DROSHA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32072213,32072213,A,C,P243757_T,PDZD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDZD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35861152,35861152,C,G,P243757_T,IL7R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL7R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35875593,35875593,A,T,P243757_T,IL7R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL7R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36207424,36207424,G,T,P243757_T,NADK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NADK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36268218,36268218,A,G,P243757_T,RANBP3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79373803,79373803,C,T,P243757_T,CTD-2201I18.1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CTD-2201I18.1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127512873,127512873,A,C,P243757_T,SLC12A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149509605,149509605,G,A,P243757_T,PDGFRB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDGFRB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156738830,156738830,G,C,P243757_T,CYFIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169468929,169468929,A,G,P243757_T,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,171532887,171532887,C,T,P243757_T,STK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176295311,176295311,G,A,P243757_T,UNC5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176940274,176940274,C,T,P243757_T,DDX41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177466530,177466530,G,C,P243757_T,FAM153CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM153CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177482694,177482694,T,C,P243757_T,FAM153CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM153CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,5431472,5431472,G,A,P243757_T,FARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27730463,27730463,A,G,P243757_T,LOC100131289,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100131289,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35047579,35047579,G,C,P243757_T,ANKS1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKS1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,38729458,38729458,T,C,P243757_T,DNAH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,38754502,38754502,A,G,P243757_T,DNAH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,38775336,38775336,T,G,P243757_T,DNAH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43308363,43308363,C,T,P243757_T,ZNF318,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF318,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,129498736,129498736,A,C,P243757_T,LAMA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135287413,135287413,A,T,P243757_T,HBS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HBS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,138866882,138866882,C,T,P243757_T,NHSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NHSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,139144446,139144446,T,C,P243757_T,ECT2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECT2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161471037,161471037,A,G,P243757_T,MAP3K4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6862125,6862125,A,G,P243757_T,CCZ1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCZ1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21742484,21742484,A,G,P243757_T,DNAH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,24905870,24905870,G,A,P243757_T,OSBPL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBPL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,37299056,37299056,C,T,P243757_T,ELMO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38505014,38505014,A,C,P243757_T,AMPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73255647,73255647,G,C,P243757_T,METTL27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,89779196,89779196,C,T,P243757_T,STEAP2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,STEAP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94258996,94258996,C,T,P243757_T,SGCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99751017,99751017,A,G,P243757_T,LAMTOR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMTOR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100839760,100839760,G,A,P243757_T,MOGAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOGAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100849804,100849804,G,A,P243757_T,PLOD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLOD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102313423,102313423,A,T,P243757_T,POLR2J2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,POLR2J2;RASA4DP,dist=1241;dist=5732,NA,NA,.,.,.,.,.,T
chr8,2056361,2056361,C,T,P243757_T,MYOM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27957556,27957556,G,A,P243757_T,ELP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,37996327,37996327,G,A,P243757_T,ASH2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASH2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,65291874,65291874,G,A,P243757_T,MIR124-2HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR124-2HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,66691934,66691934,T,A,P243757_T,PDE7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68995468,68995468,C,T,P243757_T,PREX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68995633,68995633,A,G,P243757_T,PREX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,91094983,91094983,G,A,P243757_T,CALB1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CALB1,NM_004929:c.-58C>T;NM_001366795:c.-58C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,101138096,101138096,T,C,P243757_T,RGS22,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RGS22;FBXO43,dist=19819;dist=7483,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131353139,131353139,T,C,P243757_T,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34486212,34486212,C,G,P243757_T,DNAI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415286,68415286,T,A,P243757_T,MIR4477B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4477B;LINC00537;MIR4477A,dist=22;dist=22,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113276138,113276138,T,C,P243757_T,SVEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,117064306,117064306,T,C,P243757_T,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,119382768,119382768,A,G,P243757_T,ASTN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,128118216,128118216,G,A,P243757_T,GAPVD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAPVD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130710726,130710726,A,G,P243757_T,FAM102A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM102A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137801216,137801216,G,A,P243757_T,FCN1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FCN1,NM_002003:c.*428C>T,NA,NA,.,.,.,.,.,T
chr9,139407610,139407610,G,A,P243757_T,NOTCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140359005,140359005,G,A,P243757_T,PNPLA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,12140030,12140030,C,G,P243757_T,DHTKD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHTKD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,20500743,20500743,T,G,P243757_T,PLXDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27057755,27057755,T,C,P243757_T,ABI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27529549,27529549,C,A,P243757_T,ACBD5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ACBD5,NM_001352571:c.-127G>T;NM_001271512:c.-127G>T;NM_001352587:c.-127G>T;NM_001352586:c.-127G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,38299596,38299596,C,T,P243757_T,ZNF33A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF33A,NM_001278173:c.-5315C>T;NM_001278178:c.-43793C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,60273121,60273121,T,C,P243757_T,BICC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BICC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,60273155,60273155,C,A,P243757_T,BICC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BICC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75007275,75007275,A,C,P243757_T,DNAJC9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNAJC9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,79614189,79614189,A,G,P243757_T,DLG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,79628875,79628875,A,G,P243757_T,DLG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,89692769,89692769,G,A,P243757_T,PTEN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PTEN,NM_000314:exon5:c.254-1G>A;NM_001304717:exon6:c.773-1G>A;NM_001304718:exon4:UTR5,NA,NA,.,.,D,.,.,.
chr10,105176500,105176500,G,A,P243757_T,PDCD11,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PDCD11,NM_014976:exon13:c.1770+1G>A,NA,NA,.,.,D,.,.,.
chr10,135105991,135105991,G,A,P243757_T,TUBGCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBGCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6740308,6740308,C,T,P243757_T,GVINP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GVINP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9769292,9769292,A,G,P243757_T,SWAP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SWAP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60152531,60152531,A,C,P243757_T,MS4A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63782642,63782642,C,T,P243757_T,MACROD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACROD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64004643,64004643,C,G,P243757_T,VEGFB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VEGFB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64021821,64021821,C,T,P243757_T,PLCB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64525464,64525464,C,T,P243757_T,PYGM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYGM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64977783,64977783,C,T,P243757_T,CAPN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71941812,71941812,C,T,P243757_T,INPPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89880469,89880469,T,C,P243757_T,NAALAD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAALAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89903334,89903334,C,T,P243757_T,NAALAD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAALAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119217254,119217254,C,T,P243757_T,C1QTNF5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C1QTNF5;MFRP,NM_015645:c.-6147G>A;NM_031433:c.-31G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119217311,119217311,G,A,P243757_T,C1QTNF5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C1QTNF5;MFRP,NM_015645:c.-6204C>T;NM_031433:c.-88C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119879488,119879488,G,A,P243757_T,LOC102724301,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC102724301;TRIM29,dist=269155;dist=102506,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6060960,6060960,G,A,P243757_T,VWF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6094152,6094152,G,A,P243757_T,VWF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6094390,6094390,C,T,P243757_T,VWF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6859308,6859308,T,C,P243757_T,MLF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9220729,9220729,G,A,P243757_T,A2M,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,A2M,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9573223,9573223,C,A,P243757_T,DDX12P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DDX12P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,26869233,26869233,C,T,P243757_T,ITPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27453653,27453653,G,C,P243757_T,STK38L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK38L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31249429,31249429,T,C,P243757_T,DDX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52863160,52863160,G,A,P243757_T,KRT6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53069439,53069439,C,T,P243757_T,KRT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58018979,58018979,C,T,P243757_T,B4GALNT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,B4GALNT1,NM_001276468:c.*1548G>A;NM_001478:c.*1548G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71532922,71532922,A,C,P243757_T,TSPAN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,107086790,107086790,C,T,P243757_T,LOC100287944,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100287944,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117685138,117685138,T,C,P243757_T,NOS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117696164,117696164,G,A,P243757_T,NOS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120527599,120527599,T,C,P243757_T,BICDL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BICDL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120602078,120602078,T,G,P243757_T,GCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120636549,120636549,C,A,P243757_T,RPLP0,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPLP0,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122064965,122064965,C,T,P243757_T,ORAI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORAI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123687774,123687774,C,T,P243757_T,MPHOSPH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,125437159,125437159,G,A,P243757_T,DHX37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129298735,129298735,C,G,P243757_T,SLC15A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC15A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,19600529,19600529,G,A,P243757_T,LINC00442,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00442;LOC107984132,dist=13755;dist=47645,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24468704,24468704,G,A,P243757_T,C1QTNF9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QTNF9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25072184,25072184,G,A,P243757_T,PARP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,36699690,36699690,A,G,P243757_T,DCLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46728924,46728924,C,T,P243757_T,LCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53007968,53007968,A,G,P243757_T,VPS36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,110866265,110866265,G,A,P243757_T,COL4A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114009806,114009806,G,A,P243757_T,GRTP1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GRTP1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23562825,23562825,A,C,P243757_T,ACIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24740167,24740167,C,A,P243757_T,RABGGTA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABGGTA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,25288227,25288227,T,C,P243757_T,STXBP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STXBP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,34204390,34204390,C,T,P243757_T,NPAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,45373591,45373591,A,G,P243757_T,LOC101927418,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927418,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,62546256,62546256,C,T,P243757_T,SYT16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64953580,64953580,T,A,P243757_T,ZBTB25,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB25,NM_006977:c.*61A>T;NM_001354682:c.*61A>T;NM_001354686:c.*61A>T;NM_001354685:c.*61A>T;NM_001354684:c.*61A>T;NM_001354687:c.*61A>T;NM_001304507:c.*61A>T;NM_001354683:c.*321A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64953591,64953591,C,T,P243757_T,ZBTB25,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB25,NM_006977:c.*50G>A;NM_001354682:c.*50G>A;NM_001354686:c.*50G>A;NM_001354685:c.*50G>A;NM_001354684:c.*50G>A;NM_001354687:c.*50G>A;NM_001304507:c.*50G>A;NM_001354683:c.*310G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65409134,65409134,C,A,P243757_T,CHURC1-FNTB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHURC1-FNTB;GPX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69259461,69259461,G,C,P243757_T,ZFP36L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP36L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96871337,96871337,C,T,P243757_T,AK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25222877,25222877,A,T,P243757_T,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25652326,25652326,T,G,P243757_T,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40300214,40300214,G,C,P243757_T,EIF2AK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2AK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45457106,45457106,G,T,P243757_T,DUOX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DUOX1,NM_175940:c.*7G>T;NM_017434:c.*7G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45966101,45966101,C,T,P243757_T,SQOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SQOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,58837722,58837722,G,A,P243757_T,LIPC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIPC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69857662,69857662,C,A,P243757_T,DRAIC,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DRAIC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69857737,69857737,A,G,P243757_T,DRAIC,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DRAIC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,80855673,80855673,G,A,P243757_T,ARNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90799282,90799282,A,G,P243757_T,TTLL13P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TTLL13P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90801584,90801584,G,C,P243757_T,TTLL13P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TTLL13P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90809633,90809633,G,A,P243757_T,NGRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NGRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90818827,90818827,G,A,P243757_T,NGRN,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NGRN;GABARAPL3,dist=3384;dist=70934,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90992654,90992654,G,T,P243757_T,IQGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,92397600,92397600,G,A,P243757_T,SLCO3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,100889496,100889496,T,G,P243757_T,SPATA41,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SPATA41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101009530,101009530,G,A,P243757_T,CERS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102292765,102292765,C,T,P243757_T,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=5692;dist=53158,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2836027,2836027,T,G,P243757_T,PRSS33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10625887,10625887,C,T,P243757_T,EMP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EMP2,NM_001424:c.*875G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,16230290,16230290,G,A,P243757_T,ABCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,17294295,17294295,C,T,P243757_T,XYLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XYLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29993108,29993108,C,G,P243757_T,TAOK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAOK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,52484079,52484079,T,C,P243757_T,TOX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58544640,58544640,C,G,P243757_T,NDRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58580213,58580213,T,C,P243757_T,CNOT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66886559,66886559,G,A,P243757_T,CA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70713100,70713100,C,T,P243757_T,MTSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75300529,75300529,C,T,P243757_T,BCAR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81062171,81062171,C,T,P243757_T,CENPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84888296,84888296,G,A,P243757_T,CRISPLD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRISPLD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,86574726,86574726,C,G,P243757_T,MTHFSD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTHFSD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89613037,89613037,G,A,P243757_T,SPG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89702620,89702620,G,C,P243757_T,DPEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,685966,685966,G,A,P243757_T,MRM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1565461,1565461,A,G,P243757_T,PRPF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1578835,1578835,A,G,P243757_T,PRPF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1582205,1582205,G,A,P243757_T,PRPF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2598639,2598639,C,G,P243757_T,CLUH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLUH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9820695,9820695,C,T,P243757_T,GAS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16893462,16893462,T,C,P243757_T,LINC02090,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02090,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,21731041,21731041,G,A,P243757_T,UBBP4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,UBBP4,NA,NA,NA,.,.,P,T,.,.
chr17,26691760,26691760,G,C,P243757_T,SEBOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEBOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33510323,33510323,G,C,P243757_T,UNC45B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC45B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34901731,34901731,C,T,P243757_T,GGNBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GGNBP2,NA,NA,NA,.,.,D,.,.,.
chr17,37100056,37100056,G,A,P243757_T,FBXO47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38935899,38935899,G,C,P243757_T,KRT27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40475464,40475464,C,T,P243757_T,STAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48267585,48267585,A,C,P243757_T,COL1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60217244,60217244,C,T,P243757_T,MED13,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MED13;TBC1D3P2,dist=74605;dist=124823,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65156919,65156919,G,C,P243757_T,HELZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HELZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65887896,65887896,A,G,P243757_T,BPTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67132022,67132022,T,C,P243757_T,ABCA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67181548,67181548,T,G,P243757_T,ABCA10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71411874,71411874,C,T,P243757_T,SDK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72277879,72277879,A,G,P243757_T,DNAI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAI2,NA,NA,NA,.,.,P,T,.,.
chr17,72350277,72350277,T,G,P243757_T,KIF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73838510,73838510,G,A,P243757_T,UNC13D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76897974,76897974,C,T,P243757_T,CEP295NL,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CEP295NL,NM_001243541:c.-9563G>A;NM_001243540:c.-64G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78114020,78114020,C,T,P243757_T,EIF4A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3582272,3582272,A,C,P243757_T,DLGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21396557,21396557,C,T,P243757_T,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,32823905,32823905,T,C,P243757_T,ZNF397,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF397,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1623850,1623850,G,C,P243757_T,TCF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3648528,3648528,G,A,P243757_T,PIP5K1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP5K1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10683602,10683602,C,T,P243757_T,AP1M2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AP1M2,NM_001300887:c.*140G>A;NM_005498:c.*140G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13039106,13039106,C,T,P243757_T,FARSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16301435,16301435,G,A,P243757_T,FAM32A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM32A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18541503,18541503,C,G,P243757_T,SSBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42027500,42027500,A,G,P243757_T,PCAT19,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PCAT19;LINC01480,dist=20941;dist=14360,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42027514,42027514,T,A,P243757_T,PCAT19,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PCAT19;LINC01480,dist=20955;dist=14346,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49120774,49120774,T,G,P243757_T,RPL18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50309215,50309215,G,A,P243757_T,AP2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54103564,54103564,G,A,P243757_T,LOC284379,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC284379,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57986184,57986184,G,A,P243757_T,ZNF772,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF772,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18608945,18608945,G,C,P243757_T,DTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29623317,29623317,G,A,P243757_T,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34093024,34093024,G,A,P243757_T,CEP250,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP250,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36938730,36938730,T,C,P243757_T,BPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62298774,62298774,G,A,P243757_T,RTEL1-TNFRSF6B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RTEL1-TNFRSF6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62373983,62373983,G,A,P243757_T,SLC2A4RG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A4RG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,32410928,32410928,G,A,P243757_T,KRTAP19-8,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,KRTAP19-8,dist=133,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43826391,43826391,T,C,P243757_T,UBASH3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBASH3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45710681,45710681,G,A,P243757_T,AIRE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AIRE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46902273,46902273,A,G,P243757_T,COL18A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,48083234,48083234,G,A,P243757_T,PRMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18274092,18274092,G,C,P243757_T,MICAL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21057415,21057415,T,C,P243757_T,TMEM191A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMEM191A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21057458,21057458,G,A,P243757_T,TMEM191A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMEM191A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22058355,22058355,A,G,P243757_T,YPEL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YPEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22661454,22661454,C,A,P243757_T,BMS1P20,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BMS1P20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37891710,37891710,C,A,P243757_T,CARD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39529889,39529889,C,T,P243757_T,CBX7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CBX7,NM_001346744:c.*7G>A;NM_001346743:c.*7G>A;NM_175709:c.*7G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42523003,42523003,A,G,P243757_T,LOC101929829,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929829,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42805382,42805382,G,A,P243757_T,NFAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50635627,50635627,C,T,P243757_T,TRABD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRABD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15270593,15270593,C,G,P243757_T,ASB9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47755102,47755102,C,T,P243757_T,ZNF81,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF81,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,79283388,79283388,T,C,P243757_T,TBX22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100212525,100212525,T,C,P243757_T,XKRX,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,XKRX;ARL13A,dist=28619;dist=12172,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100291883,100291883,C,T,P243757_T,TRMT2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRMT2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100364716,100364716,G,A,P243757_T,CENPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,108628579,108628579,G,A,P243757_T,GUCY2F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY2F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129058737,129058737,A,C,P243757_T,UTP14A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP14A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,138067202,138067202,A,G,P243757_T,FGF13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153037779,153037779,G,A,P243757_T,PLXNB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153073319,153073319,G,A,P243757_T,PDZD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDZD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153297636,153297636,G,C,P243757_T,MECP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MECP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153626649,153626649,A,C,P243757_T,RPL10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RPL10,NM_001256580:c.-212A>C;NM_006013:c.-212A>C;NM_001256577:c.-212A>C;NM_001303625:c.-212A>C,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153626738,153626738,G,A,P243757_T,RPL10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RPL10,NM_001303625:c.-123G>A;NM_001303624:c.-123G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48828041,48828041,T,A,P247302_F,PRKDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,65084024,65084024,G,A,P247302_F,LOC101929322,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929322;LOC441242,dist=64046;dist=27900,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133894037,133894037,T,A,P247302_F,TG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111379314,111379314,A,G,P247302_F,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,67072571,67072571,C,G,P247302_F,GRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,8518438,8518438,G,C,P247302_F,PTPRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10449350,10449350,C,T,P247302_F,ICAM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ICAM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26426628,26426628,G,A,P247302_S,BTN2A3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,BTN2A3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,65084024,65084024,G,A,P247302_S,LOC101929322,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929322;LOC441242,dist=64046;dist=27900,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133894037,133894037,T,A,P247302_S,TG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111379314,111379314,A,G,P247302_S,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,8518438,8518438,G,C,P247302_S,PTPRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103345238,103345238,C,T,P247302_S,COL11A1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,COL11A1,NM_001190709:exon65:c.5157+1G>A;NM_080629:exon66:c.5310+1G>A;NM_001854:exon66:c.5274+1G>A;NM_080630:exon64:c.4926+1G>A,NA,NA,.,.,D,.,.,.
chr2,27258182,27258182,G,A,P247302_S,TMEM214,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM214,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,50125802,50125802,C,T,P247302_S,PARP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137655477,137655477,G,A,P247302_S,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10419660,10419660,C,T,P247302_S,MYH1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MYH1,NM_005963:exon4:c.205-1G>A,NA,NA,.,.,D,.,.,.
chr22,21832202,21832202,G,A,P247302_S,PI4KAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PI4KAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892419,16892419,A,G,P258689_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893170,16893170,T,C,P258689_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43273394,43273394,G,A,P258689_F,SVBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,74835942,74835942,A,G,P258689_F,FPGT-TNNI3K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FPGT-TNNI3K;TNNI3K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,45233223,45233223,C,T,P258689_F,SIX2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SIX2,NM_016932:c.*86G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89986603,89986603,T,A,P258689_F,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;LOC107985911,dist=874635;dist=1818580,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96040731,96040731,C,A,P258689_F,KCNIP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNIP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,130680608,130680608,G,A,P258689_F,PLAC9P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PLAC9P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160710053,160710053,C,G,P258689_F,LY75,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LY75;LY75-CD302,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197791356,197791356,G,A,P258689_F,PGAP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PGAP1,NM_024989:c.-16C>T;NM_001321100:c.-35799C>T;NM_001321099:c.-13624C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197792151,197792151,A,C,P258689_F,PGAP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PGAP1,dist=720,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219288934,219288934,C,T,P258689_F,VIL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52813652,52813652,C,T,P258689_F,ITIH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52880507,52880507,C,T,P258689_F,MIR8064,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR8064,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,63661534,63661534,G,A,P258689_F,SNTN,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SNTN;C3orf49,dist=10651;dist=143441,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125775447,125775447,C,T,P258689_F,SLC41A3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC41A3,NM_001008487:c.-52G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,136646805,136646805,A,G,P258689_F,NCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169899553,169899553,G,A,P258689_F,PHC3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PHC3,dist=32,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179754497,179754497,G,A,P258689_F,PEX5L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PEX5L,NM_001256753:c.-110C>T;NM_001256752:c.-110C>T;NM_001349389:c.-110C>T;NM_001349399:c.-161303C>T;NM_016559:c.-110C>T;NM_001256751:c.-110C>T;NM_001256750:c.-110C>T;NM_001349396:c.-110C>T;NM_001349398:c.-110C>T;NM_001349401:c.-161303C>T;NM_001349404:c.-161303C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184033886,184033886,C,T,P258689_F,EIF4G1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EIF4G1,NM_001291157:c.-94C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,467899,467899,G,C,P258689_F,ABCA11P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ABCA11P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5469616,5469616,C,T,P258689_F,STK32B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK32B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1411252,1411252,C,T,P258689_F,SLC6A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43446317,43446317,G,A,P258689_F,TMEM267,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM267,NM_022483:c.*7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,110285866,110285866,T,C,P258689_F,SLC25A46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC25A46;TSLP,dist=185010;dist=121545,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141051404,141051404,G,A,P258689_F,ARAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,18368931,18368931,C,T,P258689_F,DEK,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,DEK;RNF144B,dist=104170;dist=18650,NA,NA,NA,NA,NA,NA,NA,NA
chr6,52657619,52657619,G,A,P258689_F,GSTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,157495309,157495309,C,T,P258689_F,ARID1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4791275,4791275,G,A,P258689_F,FOXK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,12691667,12691667,A,G,P258689_F,SCIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,17931339,17931339,G,A,P258689_F,SNX13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,183315,183315,T,C,P258689_F,ZNF596,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF596,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21931160,21931160,A,G,P258689_F,DMTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25266577,25266577,T,C,P258689_F,DOCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38008444,38008444,A,G,P258689_F,STAR,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STAR,NM_000349:c.-108T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67817395,67817395,C,T,P258689_F,MCMDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCMDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,92406323,92406323,G,A,P258689_F,SLC26A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC26A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33465685,33465685,G,A,P258689_F,NOL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,67328446,67328446,G,A,P258689_F,BMS1P14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BMS1P14;LOC100996643;LOC102724580,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114301585,114301585,C,T,P258689_F,ZNF483,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF483,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5142565,5142565,C,A,P258689_F,OR52E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR52E1;OR52A5,dist=50639;dist=10357,NA,NA,NA,NA,NA,NA,NA,NA
chr11,45949354,45949354,G,A,P258689_F,LARGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARGE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64538013,64538013,C,T,P258689_F,SF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71945776,71945776,A,T,P258689_F,INPPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118369322,118369322,G,A,P258689_F,KMT2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134048511,134048511,C,T,P258689_F,NCAPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2911086,2911086,C,T,P258689_F,ITFG2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ITFG2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,78593037,78593037,A,G,P258689_F,NAV3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,85261016,85261016,A,G,P258689_F,SLC6A15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94072903,94072903,T,C,P258689_F,CRADD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRADD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,106704642,106704642,C,T,P258689_F,TCP11L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCP11L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113542150,113542150,G,A,P258689_F,RASAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23420934,23420934,C,A,P258689_F,LOC101926933,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101926933,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,52194881,52194881,G,A,P258689_F,FRMD6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FRMD6,NM_001042481:c.*134G>A;NM_152330:c.*134G>A;NM_001267046:c.*134G>A;NM_001267047:c.*134G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69061352,69061352,C,T,P258689_F,RAD51B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RAD51B,NM_133509:c.*32C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73719731,73719731,G,A,P258689_F,PAPLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20644221,20644221,G,A,P258689_F,HERC2P3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HERC2P3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90634920,90634920,G,A,P258689_F,IDH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101591645,101591645,C,T,P258689_F,LRRK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14960647,14960647,T,C,P258689_F,NOMO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOMO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,18479172,18479172,G,A,P258689_F,PKD1P5-LOC105376752,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PKD1P5-LOC105376752,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20873941,20873941,C,T,P258689_F,DCUN1D3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DCUN1D3,NM_173475:c.-81G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58021383,58021383,C,T,P258689_F,TEPP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TEPP,NM_199046:c.*53C>T;NM_199456:c.*53C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,556456,556456,T,C,P258689_F,VPS53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15536091,15536091,G,A,P258689_F,TRIM16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18055524,18055524,G,A,P258689_F,MYO15A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO15A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62079865,62079865,G,A,P258689_F,PRR29,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRR29,NM_001191031:c.*790G>A;NM_001191029:c.*530G>A;NM_001191030:c.*744G>A;NM_001164257:c.*744G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66431670,66431670,C,A,P258689_F,ARSG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARSG;PRKAR1A;WIPI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,7016019,7016019,C,T,P258689_F,LAMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,60025694,60025694,G,A,P258689_F,TNFRSF11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1584713,1584713,G,A,P258689_F,MBD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3941991,3941991,C,T,P258689_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17727213,17727213,G,A,P258689_F,UNC13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52188216,52188216,C,T,P258689_F,LOC101927770,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927770,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37209866,37209866,G,A,P258689_F,PVALB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PVALB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15408229,15408229,C,T,P258689_F,PIR-FIGF,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PIR-FIGF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24948519,24948519,C,T,P258689_F,POLA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,46321923,46321923,C,T,P258689_F,KRBOX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRBOX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69504079,69504079,T,G,P258689_F,RAB41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,108691188,108691188,C,G,P258689_F,GUCY2F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY2F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,108691201,108691201,A,G,P258689_F,GUCY2F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY2F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15714588,15714588,G,A,P258689_S,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893170,16893170,T,C,P258689_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33944828,33944828,G,A,P258689_S,ZSCAN20,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZSCAN20,NM_145238:c.-62G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38158457,38158457,G,A,P258689_S,CDCA8,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CDCA8,NM_001256875:exon1:c.94+1G>A;NM_018101:exon2:c.94+1G>A,NA,NA,.,.,D,.,.,.
chr1,75704144,75704144,C,T,P258689_S,SLC44A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78245438,78245438,G,A,P258689_S,MIGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220927504,220927504,C,T,P258689_S,2-Mar,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,2-Mar,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247109044,247109044,G,A,P258689_S,ZNF670-ZNF695,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ZNF670-ZNF695,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,248285841,248285841,C,G,P258689_S,OR2M1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR2M1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27717018,27717018,G,A,P258689_S,FNDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96208609,96208609,C,T,P258689_S,TRIM43B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM43B;TRIM43,dist=58130;dist=49140,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114340511,114340511,G,A,P258689_S,WASH2P,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,WASH2P;MIR1302-3,dist=25;dist=25,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171693171,171693171,C,T,P258689_S,GAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197792151,197792151,A,C,P258689_S,PGAP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PGAP1,dist=720,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42729874,42729874,G,A,P258689_S,KLHL40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50405357,50405357,G,A,P258689_S,CACNA2D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51992065,51992065,C,T,P258689_S,PCBP4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PCBP4,NM_033010:c.*12G>A;NM_001363885:c.*55G>A;NM_020418:c.*12G>A;NM_001174100:c.*12G>A;NM_033008:c.*12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,94656610,94656610,C,T,P258689_S,LINC00879,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LINC00879,dist=497,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126260557,126260557,C,T,P258689_S,CHST13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHST13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,137842865,137842865,C,T,P258689_S,A4GNT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,A4GNT,NM_016161:c.*241G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195480221,195480221,G,A,P258689_S,MUC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,15589687,15589687,G,A,P258689_S,CC2D2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CC2D2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25315615,25315615,C,T,P258689_S,ZCCHC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89079853,89079853,G,A,P258689_S,ABCG2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABCG2,NM_001348988:c.-18706C>T;NM_001348986:c.-18706C>T;NM_001348987:c.-18706C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,110285607,110285607,C,T,P258689_S,SLC25A46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC25A46;TSLP,dist=184751;dist=121804,NA,NA,NA,NA,NA,NA,NA,NA
chr6,25923872,25923872,C,T,P258689_S,SLC17A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43034694,43034694,C,T,P258689_S,KLC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43687294,43687294,C,T,P258689_S,COA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76130717,76130717,C,T,P258689_S,DTX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,116608634,116608634,G,A,P258689_S,ST7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,183315,183315,T,C,P258689_S,ZNF596,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF596,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25202693,25202693,C,T,P258689_S,DOCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41954608,41954608,G,T,P258689_S,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69777919,69777919,C,T,P258689_S,LOC101928381,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928381;FOXD4L5,dist=20135;dist=397788,NA,NA,NA,NA,NA,NA,NA,NA
chr10,17086901,17086901,C,T,P258689_S,CUBN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUBN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,74884832,74884832,C,T,P258689_S,NUDT13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDT13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115412863,115412863,G,A,P258689_S,NRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71939699,71939699,C,T,P258689_S,INPPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124792563,124792563,C,T,P258689_S,HEPACAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPACAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126301460,126301460,G,A,P258689_S,KIRREL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIRREL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,29670313,29670313,C,T,P258689_S,TMTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,90754529,90754529,C,T,P258689_S,NRDE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRDE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20644295,20644295,A,G,P258689_S,HERC2P3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HERC2P3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75093835,75093835,C,T,P258689_S,CSK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,825134,825134,G,A,P258689_S,MIR662,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR662;RPUSD1,dist=4857;dist=9840,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4432999,4432999,G,A,P258689_S,VASN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,VASN,NM_138440:c.*99G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31201229,31201229,G,A,P258689_S,FUS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31434347,31434347,C,T,P258689_S,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,46723118,46723118,G,A,P258689_S,ORC6,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ORC6;VPS35,dist=453,NA,NA,NA,NA,NA,NA,NA,NA
chr16,87735207,87735207,C,T,P258689_S,JPH3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,JPH3;KLHDC4,dist=3446;dist=6211,NA,NA,NA,NA,NA,NA,NA,NA
chr16,87738524,87738524,G,A,P258689_S,JPH3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,JPH3;KLHDC4,dist=6763;dist=2894,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4790228,4790228,C,T,P258689_S,MINK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MINK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33498496,33498496,G,A,P258689_S,UNC45B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC45B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48433832,48433832,C,T,P258689_S,XYLT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XYLT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6937762,6937762,G,A,P258689_S,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41208605,41208605,G,A,P258689_S,COQ8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46525887,46525887,C,T,P258689_S,PGLYRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGLYRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55966482,55966482,G,A,P258689_S,ISOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ISOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43600994,43600994,G,A,P258689_S,STK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44171320,44171320,C,T,P258689_S,EPPIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPPIN;EPPIN-WFDC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44483042,44483042,C,T,P258689_S,CBS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBS;CBSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23959752,23959752,G,A,P258689_S,DRICH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRICH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30987676,30987676,C,T,P258689_S,PES1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PES1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37889883,37889883,C,T,P258689_S,CARD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,9862331,9862331,C,T,P258689_S,SHROOM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHROOM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129628989,129628989,C,T,P258689_S,DENND10P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DENND10P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2541397,2541397,G,A,P270959_F,MMEL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6008343,6008343,C,T,P270959_F,NPHP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPHP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7826645,7826645,G,A,P270959_F,CAMTA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAMTA1,NM_001349608:c.*94G>A;NM_015215:c.*94G>A;NM_001349610:c.*94G>A;NM_001349612:c.*94G>A;NM_001349609:c.*63G>A;NM_001349614:c.*63G>A;NM_001349620:c.*94G>A;NM_001349621:c.*63G>A;NM_001349623:c.*63G>A;NM_001349625:c.*94G>A;NM_001349617:c.*94G>A;NM_001349613:c.*63G>A;NM_001349619:c.*94G>A;NM_001349622:c.*63G>A;NM_001349616:c.*94G>A;NM_001349618:c.*94G>A;NM_001349615:c.*63G>A;NM_001349626:c.*94G>A;NM_001349624:c.*63G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7826653,7826653,G,A,P270959_F,CAMTA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAMTA1,NM_001349608:c.*102G>A;NM_015215:c.*102G>A;NM_001349610:c.*102G>A;NM_001349612:c.*102G>A;NM_001349609:c.*71G>A;NM_001349614:c.*71G>A;NM_001349620:c.*102G>A;NM_001349621:c.*71G>A;NM_001349623:c.*71G>A;NM_001349625:c.*102G>A;NM_001349617:c.*102G>A;NM_001349613:c.*71G>A;NM_001349619:c.*102G>A;NM_001349622:c.*71G>A;NM_001349616:c.*102G>A;NM_001349618:c.*102G>A;NM_001349615:c.*71G>A;NM_001349626:c.*102G>A;NM_001349624:c.*71G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,8601207,8601207,T,C,P270959_F,RERE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RERE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,8617680,8617680,C,T,P270959_F,RERE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RERE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9211836,9211836,C,T,P270959_F,MIR34A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR34A;MIR34AHG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9783872,9783872,C,T,P270959_F,PIK3CD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9794970,9794970,G,A,P270959_F,CLSTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLSTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10479347,10479347,G,T,P270959_F,PGD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11882907,11882907,G,A,P270959_F,CLCN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15623000,15623000,T,C,P270959_F,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16891429,16891429,A,G,P270959_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892311,16892311,A,G,P270959_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893873,16893873,T,C,P270959_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19775320,19775320,C,T,P270959_F,CAPZB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPZB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23239919,23239919,G,A,P270959_F,EPHB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25687063,25687063,C,T,P270959_F,TMEM50A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM50A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27685429,27685429,G,A,P270959_F,MAP3K6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28859329,28859329,G,T,P270959_F,RCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31208121,31208121,A,G,P270959_F,LAPTM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAPTM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31733953,31733953,T,C,P270959_F,SNRNP40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRNP40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31906618,31906618,G,C,P270959_F,SERINC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32768067,32768067,C,T,P270959_F,HDAC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35455822,35455822,T,C,P270959_F,ZMYM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35455871,35455871,C,G,P270959_F,ZMYM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36552969,36552969,C,T,P270959_F,TEKT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEKT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36775062,36775062,T,C,P270959_F,SH3D21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3D21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38488519,38488519,T,C,P270959_F,UTP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39549882,39549882,G,A,P270959_F,MACF1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MACF1,NM_012090:c.-9G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43217807,43217807,G,A,P270959_F,P3H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P3H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43748413,43748413,C,T,P270959_F,C1orf210,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C1orf210,NM_182517:c.*43G>A;NM_001164829:c.*43G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43881782,43881782,A,C,P270959_F,SZT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SZT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44463755,44463755,C,T,P270959_F,SLC6A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45286316,45286316,C,T,P270959_F,PTCH2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTCH2,NM_001166292:c.*45G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45472840,45472840,T,G,P270959_F,HECTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46027355,46027355,T,C,P270959_F,AKR1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46658465,46658465,G,A,P270959_F,POMGNT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POMGNT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51776809,51776809,A,T,P270959_F,TTC39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51905987,51905987,A,G,P270959_F,EPS15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,79002072,79002072,G,A,P270959_F,PTGFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94033491,94033491,G,C,P270959_F,BCAR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94544805,94544805,T,A,P270959_F,ABCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113238596,113238596,G,A,P270959_F,MOV10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOV10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,146680291,146680291,A,G,P270959_F,CHD1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD1L;FMO5;NBPF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150248288,150248288,A,G,P270959_F,C1orf54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150478221,150478221,T,C,P270959_F,TARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150967828,150967828,C,T,P270959_F,ANXA9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANXA9,NM_003568:c.*30C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151239468,151239468,G,A,P270959_F,PSMD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153954812,153954812,T,C,P270959_F,RAB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153954816,153954816,T,C,P270959_F,RAB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154543627,154543627,C,T,P270959_F,CHRNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155109212,155109212,A,C,P270959_F,SLC50A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC50A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155174467,155174467,G,A,P270959_F,THBS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THBS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155207464,155207464,A,G,P270959_F,GBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155291460,155291460,C,T,P270959_F,RUSC1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RUSC1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155891892,155891892,A,G,P270959_F,KHDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KHDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156306944,156306944,T,C,P270959_F,CCT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156502960,156502960,T,C,P270959_F,IQGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157768143,157768143,G,A,P270959_F,FCRL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160394816,160394816,G,A,P270959_F,VANGL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VANGL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161088418,161088418,C,T,P270959_F,NIT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161143586,161143586,G,A,P270959_F,B4GALT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161143933,161143933,T,C,P270959_F,B4GALT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161143950,161143950,T,C,P270959_F,B4GALT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,164559746,164559746,G,A,P270959_F,PBX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PBX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,166987035,166987035,T,C,P270959_F,MAEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169101990,169101990,T,C,P270959_F,NME7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NME7,NM_197972:c.*33A>G;NM_013330:c.*33A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,171130610,171130610,T,C,P270959_F,FMO6P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FMO6P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,175054777,175054777,A,G,P270959_F,TNN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181707403,181707403,G,T,P270959_F,CACNA1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182517729,182517729,G,A,P270959_F,RGSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183914471,183914471,C,T,P270959_F,COLGALT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLGALT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,192989543,192989543,A,C,P270959_F,UCHL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCHL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,193181636,193181636,G,A,P270959_F,CDC73,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC73,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201183973,201183973,C,T,P270959_F,IGFN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGFN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204413160,204413160,C,T,P270959_F,PIK3C2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3C2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204951167,204951167,G,A,P270959_F,NFASC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFASC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207780567,207780567,G,A,P270959_F,CR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,210411281,210411281,C,T,P270959_F,SERTAD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERTAD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,215753120,215753120,T,C,P270959_F,KCTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220232151,220232151,A,G,P270959_F,BPNT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BPNT1,NM_006085:c.*35T>C;NM_001286151:c.*35T>C;NM_001286149:c.*35T>C;NM_001286150:c.*35T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220232166,220232166,C,T,P270959_F,BPNT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BPNT1,NM_006085:c.*20G>A;NM_001286151:c.*20G>A;NM_001286149:c.*20G>A;NM_001286150:c.*20G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225601711,225601711,G,A,P270959_F,LBR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LBR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227169650,227169650,G,A,P270959_F,COQ8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236732197,236732197,A,C,P270959_F,HEATR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,241033249,241033249,G,A,P270959_F,RGS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,246828964,246828964,C,T,P270959_F,CNST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,249120623,249120623,C,A,P270959_F,MIR3124,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR3124,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7386198,7386198,C,T,P270959_F,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=168187;dist=175194,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7421598,7421598,C,T,P270959_F,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=203587;dist=139794,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7421609,7421609,C,G,P270959_F,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=203598;dist=139783,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11731409,11731409,C,T,P270959_F,GREB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GREB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,21247745,21247745,C,T,P270959_F,APOB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOB,NA,NA,NA,T,.,N,T,N,T
chr2,26176987,26176987,G,A,P270959_F,KIF3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26536103,26536103,C,T,P270959_F,ADGRF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27462849,27462849,T,C,P270959_F,CAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27566526,27566526,C,T,P270959_F,GTF3C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27598285,27598285,A,G,P270959_F,SNX17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27659832,27659832,C,T,P270959_F,NRBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31369807,31369807,C,T,P270959_F,GALNT14,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GALNT14;CAPN14,dist=8501;dist=26115,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32690121,32690121,T,C,P270959_F,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37599639,37599639,T,G,P270959_F,QPCT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QPCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38818844,38818844,G,A,P270959_F,HNRNPLL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPLL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42996746,42996746,A,T,P270959_F,HAAO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAAO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44527070,44527070,G,A,P270959_F,SLC3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,47233721,47233721,C,T,P270959_F,TTC7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48018293,48018293,T,G,P270959_F,MSH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,64192967,64192967,A,G,P270959_F,VPS54,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,VPS54,NM_001005739:exon6:c.588+2T>C;NM_016516:exon6:c.624+2T>C,NA,NA,.,.,D,.,.,.
chr2,65217316,65217316,C,A,P270959_F,SLC1A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,65245531,65245531,C,T,P270959_F,SLC1A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70015341,70015341,C,T,P270959_F,ANXA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73851811,73851811,G,A,P270959_F,ALMS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ALMS1;NAT8,dist=14765;dist=16039,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74230314,74230314,C,T,P270959_F,TET3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TET3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74458536,74458536,C,A,P270959_F,SLC4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74460468,74460468,C,T,P270959_F,SLC4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86426389,86426389,T,C,P270959_F,MRPL35,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MRPL35,dist=167,NA,NA,NA,NA,NA,NA,NA,NA
chr2,87156989,87156989,C,T,P270959_F,RGPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD1;RGPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,87390225,87390225,A,G,P270959_F,LOC285074,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC285074;MIR4771-1,dist=86689;dist=31684,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89345702,89345702,G,A,P270959_F,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;NONE,dist=233734;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91933278,91933278,C,A,P270959_F,LOC101927050,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101927050;GGT8P,dist=33142;dist=30090,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96610537,96610537,G,T,P270959_F,ANKRD36C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD36C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96686993,96686993,G,T,P270959_F,FAHD2CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAHD2CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97317524,97317524,A,G,P270959_F,FER1L5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FER1L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97505931,97505931,G,A,P270959_F,ANKRD23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101023149,101023149,G,A,P270959_F,CHST10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CHST10,NM_004854:c.-12C>T,NA,NA,D,.,N,T,N,T
chr2,103095790,103095790,C,T,P270959_F,SLC9A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,105892179,105892179,G,A,P270959_F,TGFBRAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGFBRAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113487091,113487091,G,A,P270959_F,NT5DC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5DC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,132263979,132263979,G,A,P270959_F,LOC150776,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC150776,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136466922,136466922,C,T,P270959_F,R3HDM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,R3HDM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,141773516,141773516,A,G,P270959_F,LRP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,149807052,149807052,A,G,P270959_F,KIF5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,172314759,172314759,A,G,P270959_F,DCAF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179986701,179986701,G,A,P270959_F,SESTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SESTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,190642869,190642869,T,C,P270959_F,ORMDL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORMDL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,192550516,192550516,T,C,P270959_F,NABP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NABP1,NM_001254736:c.*22T>C;NM_001031716:c.*22T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203630559,203630559,G,A,P270959_F,FAM117B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FAM117B,NM_173511:c.*72G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206481651,206481651,A,G,P270959_F,PARD3B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PARD3B,NM_152526:c.*1114A>G;NM_001302769:c.*1114A>G;NM_057177:c.*1114A>G;NM_205863:c.*1114A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206659783,206659783,C,T,P270959_F,NRP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NRP2,NM_201266:c.*1C>T;NM_201279:c.*1C>T;NM_003872:c.*1C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209120702,209120702,C,G,P270959_F,IDH1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,IDH1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,211518742,211518742,G,A,P270959_F,CPS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215802214,215802214,A,G,P270959_F,SNHG31,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215846811,215846811,T,C,P270959_F,ABCA12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,216213992,216213992,C,T,P270959_F,ATIC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATIC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217070001,217070001,C,T,P270959_F,XRCC5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,XRCC5,NM_021141:c.*76C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217724452,217724452,G,A,P270959_F,TNP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,218784910,218784910,T,C,P270959_F,TNS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220356796,220356796,G,A,P270959_F,SPEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,227773507,227773507,C,T,P270959_F,RHBDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,227906803,227906803,C,T,P270959_F,COL4A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231624713,231624713,C,T,P270959_F,CAB39,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CAB39,NM_016289:c.-4C>T;NM_001130850:c.-4C>T;NM_001130849:c.-4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231741485,231741485,G,A,P270959_F,ITM2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITM2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234775651,234775651,C,T,P270959_F,MSL3P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MSL3P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,240016569,240016569,C,T,P270959_F,HDAC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,4718273,4718273,C,T,P270959_F,ITPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,5236987,5236987,A,T,P270959_F,EDEM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDEM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9747129,9747129,G,A,P270959_F,CPNE9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10188141,10188141,G,A,P270959_F,VHL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VHL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14974004,14974004,G,A,P270959_F,FGD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,25622215,25622215,T,C,P270959_F,RARB,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RARB,NM_001290216:exon8:c.807+2T>C;NM_001290300:exon5:c.657+2T>C;NM_016152:exon5:c.450+2T>C;NM_001290277:exon5:c.786+2T>C;NM_001290276:exon5:c.450+2T>C;NM_000965:exon5:c.786+2T>C;NM_001290266:exon5:c.639+2T>C;NM_001290217:exon5:c.450+2T>C,NA,NA,.,.,D,.,.,.
chr3,25778785,25778785,G,A,P270959_F,NGLY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NGLY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33626202,33626202,G,A,P270959_F,CLASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,35834123,35834123,C,T,P270959_F,ARPP21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARPP21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37100183,37100183,G,A,P270959_F,LRRFIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38755403,38755403,A,G,P270959_F,SCN10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,40464267,40464267,A,G,P270959_F,ENTPD3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ENTPD3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42595082,42595082,G,A,P270959_F,SEC22C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC22C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45773712,45773712,G,A,P270959_F,SACM1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SACM1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46785588,46785588,C,T,P270959_F,PRSS45P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRSS45P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47551540,47551540,A,G,P270959_F,ELP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48616911,48616911,A,G,P270959_F,COL7A1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,COL7A1,NM_000094:exon59:c.5271+2T>C,NA,NA,.,.,D,.,.,.
chr3,49298439,49298439,G,A,P270959_F,CCDC36,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CCDC36;C3orf62,dist=2900;dist=7590,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51930729,51930729,G,A,P270959_F,IQCF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52183826,52183826,A,G,P270959_F,POC1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POC1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52263670,52263670,C,T,P270959_F,TWF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TWF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52556322,52556322,G,A,P270959_F,STAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,56675345,56675345,A,C,P270959_F,TASOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TASOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57323025,57323025,C,T,P270959_F,ASB14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58296391,58296391,A,G,P270959_F,HTD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTD2;RPP14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58407239,58407239,G,A,P270959_F,PXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58575195,58575195,C,T,P270959_F,FAM107A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM107A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,64644144,64644144,A,C,P270959_F,ADAMTS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65479171,65479171,C,T,P270959_F,MAGI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,69026963,69026963,G,A,P270959_F,EOGT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EOGT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,71015244,71015244,G,A,P270959_F,FOXP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,102195822,102195822,A,G,P270959_F,ZPLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZPLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113442255,113442255,C,A,P270959_F,NAA50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119434367,119434367,C,A,P270959_F,MAATS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAATS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124896827,124896827,C,T,P270959_F,SLC12A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125188390,125188390,G,A,P270959_F,SNX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127434602,127434602,C,T,P270959_F,MGLL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGLL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128363535,128363535,T,C,P270959_F,RPN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,133534650,133534650,T,C,P270959_F,SRPRB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRPRB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138192707,138192707,C,T,P270959_F,ESYT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESYT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139108315,139108315,G,A,P270959_F,COPB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139246317,139246317,G,A,P270959_F,LOC100507291,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100507291,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141905124,141905124,G,A,P270959_F,GK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142516806,142516806,C,T,P270959_F,TRPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142739602,142739602,C,T,P270959_F,U2SURP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,U2SURP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150275449,150275449,C,G,P270959_F,EIF2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,155521922,155521922,A,G,P270959_F,C3orf33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3orf33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,156411807,156411807,A,T,P270959_F,TIPARP,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TIPARP,NM_015508:exon3:c.918-2A>T;NM_001184717:exon3:c.918-2A>T;NM_001184718:exon3:c.918-2A>T,NA,NA,.,.,D,.,.,.
chr3,157820733,157820733,G,A,P270959_F,SHOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,159606423,159606423,T,C,P270959_F,IQCJ-SCHIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCJ-SCHIP1;SCHIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160141474,160141474,T,C,P270959_F,TRIM59-IFT80,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRIM59-IFT80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170150555,170150555,C,T,P270959_F,CLDN11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CLDN11,NM_005602:c.*11C>T;NM_001185056:c.*11C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184060127,184060127,A,G,P270959_F,FAM131A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM131A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184084327,184084327,T,C,P270959_F,POLR2H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186293781,186293781,G,A,P270959_F,DNAJB11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJB11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194877173,194877173,C,T,P270959_F,XXYLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XXYLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195594207,195594207,G,A,P270959_F,TNK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197490264,197490264,G,A,P270959_F,FYTTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FYTTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197562523,197562523,G,T,P270959_F,LRCH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1989878,1989878,G,A,P270959_F,NELFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NELFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4427069,4427069,C,T,P270959_F,STX18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STX18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,13548287,13548287,G,A,P270959_F,LINC01096,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01096,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,15994018,15994018,C,T,P270959_F,PROM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,17510759,17510759,C,T,P270959_F,QDPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QDPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555380,20555380,A,G,P270959_F,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25673139,25673139,G,A,P270959_F,SLC34A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC34A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,30132798,30132798,C,G,P270959_F,LINC02472,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02472;PCDH7,dist=910015;dist=589193,NA,NA,NA,NA,NA,NA,NA,NA
chr4,36317778,36317778,C,T,P270959_F,DTHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,37974264,37974264,T,C,P270959_F,TBC1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,38047546,38047546,C,A,P270959_F,TBC1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,38119643,38119643,T,C,P270959_F,TBC1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39463548,39463548,T,C,P270959_F,LIAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68562260,68562260,C,T,P270959_F,UBA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,72634224,72634224,T,C,P270959_F,GC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73933707,73933707,A,G,P270959_F,COX18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,75673485,75673485,G,A,P270959_F,BTC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76517148,76517148,A,G,P270959_F,CDKL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79350218,79350218,C,G,P270959_F,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81123031,81123031,C,T,P270959_F,PRDM8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81123035,81123035,C,T,P270959_F,PRDM8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81123039,81123039,C,T,P270959_F,PRDM8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,84511555,84511555,G,A,P270959_F,GPAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,86938314,86938314,C,G,P270959_F,MAPK10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAPK10,NM_001318069:c.*25G>C;NM_138980:c.*67G>C;NM_138982:c.*67G>C;NM_001351624:c.*67G>C;NM_001351625:c.*198G>C;NM_002753:c.*198G>C;NM_001363657:c.*198G>C;NM_001318067:c.*67G>C;NM_001318068:c.*67G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr4,88815047,88815047,G,C,P270959_F,MEPE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MEPE;SPP1,dist=47079;dist=81755,NA,NA,NA,NA,NA,NA,NA,NA
chr4,106743998,106743998,G,A,P270959_F,LOC101929529,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929529,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,108820864,108820864,C,T,P270959_F,LOC101929595,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929595,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114254454,114254454,A,G,P270959_F,ANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114299419,114299419,C,A,P270959_F,ANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,123155910,123155910,C,T,P270959_F,KIAA1109,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1109,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,153692282,153692282,T,C,P270959_F,TIGD4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TIGD4,NM_145720:c.-126A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr4,165878434,165878434,G,A,P270959_F,FAM218A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FAM218A,NA,NA,NA,.,.,N,T,D,T
chr4,166200849,166200849,C,T,P270959_F,GK3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GK3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,187557153,187557153,C,T,P270959_F,FAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1214188,1214188,C,T,P270959_F,SLC6A19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4930119,4930119,A,G,P270959_F,LINC02114,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02114;LINC01020,dist=155141;dist=104353,NA,NA,NA,NA,NA,NA,NA,NA
chr5,6656297,6656297,G,A,P270959_F,SRD5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRD5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,11110867,11110867,C,T,P270959_F,CTNND2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNND2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,21751741,21751741,T,G,P270959_F,CDH12,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDH12,NM_001364104:c.*105A>C;NM_001364105:c.*105A>C;NM_001364106:c.*105A>C;NM_004061:c.*105A>C;NM_001317227:c.*105A>C;NM_001364109:c.*105A>C;NM_001317228:c.*105A>C;NM_001364108:c.*105A>C;NM_001364107:c.*105A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34823014,34823014,A,G,P270959_F,RAI14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAI14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35670155,35670155,C,T,P270959_F,SPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36166843,36166843,C,T,P270959_F,SKP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36677320,36677320,C,T,P270959_F,SLC1A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43120115,43120115,A,G,P270959_F,ZNF131,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ZNF131,dist=901,NA,NA,D,.,.,T,N,T
chr5,54320764,54320764,C,T,P270959_F,GZMK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GZMK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,56176899,56176899,C,T,P270959_F,MAP3K1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,64872940,64872940,G,A,P270959_F,PPWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,73153413,73153413,T,C,P270959_F,ARHGEF28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76171006,76171006,G,A,P270959_F,S100Z,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,S100Z,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,101834173,101834173,C,T,P270959_F,SLCO6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,115176274,115176274,A,C,P270959_F,ATG12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,126770337,126770337,G,A,P270959_F,MEGF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127644788,127644788,A,T,P270959_F,FBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,134211235,134211235,G,T,P270959_F,TXNDC15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,136834050,136834050,G,A,P270959_F,SPOCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPOCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140806884,140806884,G,A,P270959_F,PCDHGB8P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PCDHGB8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148521623,148521623,C,T,P270959_F,ABLIM3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABLIM3,NM_001301018:c.-36C>T;NM_001345858:c.-36C>T;NM_001345859:c.-36C>T;NM_001345860:c.-36C>T;NM_014945:c.-36C>T;NM_001301015:c.-36C>T;NM_001301028:c.-36C>T;NM_001345861:c.-36C>T;NM_001370417:c.-36C>T;NM_001370418:c.-36C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149740568,149740568,A,G,P270959_F,TCOF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCOF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149740579,149740579,A,G,P270959_F,TCOF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCOF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150073855,150073855,C,A,P270959_F,RBM22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150853469,150853469,T,C,P270959_F,SLC36A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC36A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156353190,156353190,T,C,P270959_F,TIMD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156525793,156525793,G,A,P270959_F,HAVCR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAVCR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156675821,156675821,C,T,P270959_F,ITK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,159626335,159626335,A,T,P270959_F,FABP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FABP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,161322893,161322893,A,G,P270959_F,GABRA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,170343449,170343449,A,T,P270959_F,RANBP17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,171752141,171752141,G,A,P270959_F,SH3PXD2B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,SH3PXD2B,dist=46,NA,NA,NA,NA,NA,NA,NA,NA
chr5,172512712,172512712,A,G,P270959_F,CREBRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CREBRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176867658,176867658,C,T,P270959_F,PRR7-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PRR7-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178369697,178369697,A,G,P270959_F,ZNF454,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF454,NM_001323308:c.-96A>G;NM_001323309:c.-96A>G;NM_001323310:c.-96A>G;NM_001178089:c.-96A>G;NM_001178090:c.-96A>G;NM_182594:c.-96A>G;NM_001323307:c.-96A>G;NM_001323306:c.-96A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179542320,179542320,T,C,P270959_F,RASGEF1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGEF1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,7986876,7986876,C,T,P270959_F,PIP5K1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIP5K1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10881841,10881841,A,G,P270959_F,GCM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26405893,26405893,C,T,P270959_F,BTN3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTN3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36930527,36930527,A,G,P270959_F,PI16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PI16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43106752,43106752,C,T,P270959_F,PTK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43160967,43160967,G,A,P270959_F,CUL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43521263,43521263,T,C,P270959_F,POLR1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR1C;XPO5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44199630,44199630,A,G,P270959_F,SLC29A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC29A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47750043,47750043,G,A,P270959_F,OPN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56329527,56329527,C,T,P270959_F,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,D,D,.,T,N,T
chr6,72960845,72960845,A,G,P270959_F,RIMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,80020600,80020600,G,A,P270959_F,LCAL1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LCAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,151857687,151857687,A,G,P270959_F,CCDC170,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC170,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,159010652,159010652,G,A,P270959_F,TMEM181,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM181,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160205616,160205616,A,G,P270959_F,TCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,908982,908982,C,A,P270959_F,SUN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2414289,2414289,C,T,P270959_F,EIF3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4055191,4055191,G,A,P270959_F,SDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6064272,6064272,C,T,P270959_F,EIF2AK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EIF2AK1,NM_014413:c.*32G>A;NM_001134335:c.*32G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6370804,6370804,C,T,P270959_F,FAM220A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM220A,NM_001037163:c.-19G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20180463,20180463,G,C,P270959_F,MACC1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MACC1,NM_182762:c.*106C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21775522,21775522,T,C,P270959_F,DNAH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23728535,23728535,A,G,P270959_F,FAM221A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM221A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,33390572,33390572,T,C,P270959_F,BBS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44012819,44012819,C,T,P270959_F,POLR2J4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,POLR2J4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44270676,44270676,G,A,P270959_F,CAMK2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,66479602,66479602,G,A,P270959_F,TYW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72683350,72683350,G,A,P270959_F,NCF1B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NCF1B;NSUN5,dist=33371;dist=33163,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73100895,73100895,G,T,P270959_F,BUD23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BUD23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73107152,73107152,C,T,P270959_F,BUD23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BUD23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75174308,75174308,T,C,P270959_F,HIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75190526,75190526,A,G,P270959_F,HIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75511117,75511117,G,A,P270959_F,RHBDD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,96303133,96303133,G,A,P270959_F,SEM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEM1,NA,NA,NA,D,.,N,T,N,T
chr7,97619345,97619345,G,A,P270959_F,OCM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OCM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,97619599,97619599,T,C,P270959_F,OCM2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OCM2,dist=183,NA,NA,NA,NA,NA,NA,NA,NA
chr7,97850908,97850908,A,G,P270959_F,TECPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TECPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,97946455,97946455,G,A,P270959_F,BAIAP2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98493539,98493539,G,T,P270959_F,TRRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99040814,99040814,C,T,P270959_F,ATP5MF-PTCD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5MF-PTCD1;CPSF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99104167,99104167,C,T,P270959_F,ZKSCAN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZKSCAN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99703851,99703851,G,A,P270959_F,AP4M1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP4M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100002791,100002791,A,G,P270959_F,ZCWPW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCWPW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392911,107392911,C,G,P270959_F,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111377162,111377162,A,G,P270959_F,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111400161,111400161,C,T,P270959_F,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122769428,122769428,T,G,P270959_F,SLC13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123599497,123599497,T,C,P270959_F,SPAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127637779,127637779,G,A,P270959_F,SND1-IT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SND1-IT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129122964,129122964,T,G,P270959_F,STRIP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STRIP2,NM_001134336:c.*54T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129909065,129909065,G,A,P270959_F,CPA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130003145,130003145,C,A,P270959_F,CPA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142625973,142625973,G,A,P270959_F,TRPV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,146805474,146805474,G,A,P270959_F,CNTNAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTNAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148143175,148143175,C,T,P270959_F,CNTNAP2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CNTNAP2;C7orf33,dist=25087;dist=144683,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149473593,149473593,C,T,P270959_F,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,151433193,151433193,G,A,P270959_F,PRKAG2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PRKAG2,NM_001304527:c.-114C>T;NM_001363698:c.-114C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155404169,155404169,C,T,P270959_F,CNPY1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CNPY1;LOC100506302,dist=40728;dist=30441,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157370882,157370882,G,A,P270959_F,PTPRN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6479277,6479277,G,A,P270959_F,MCPH1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MCPH1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6679329,6679329,C,A,P270959_F,XKR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XKR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10194979,10194979,A,G,P270959_F,MSRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,19683857,19683857,G,T,P270959_F,INTS10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,23105605,23105605,G,A,P270959_F,CHMP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHMP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27957311,27957311,G,A,P270959_F,ELP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30954258,30954258,C,T,P270959_F,WRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,35581960,35581960,C,T,P270959_F,UNC5D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,37593534,37593534,G,C,P270959_F,LOC102723701,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC102723701,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42317627,42317627,G,A,P270959_F,SLC20A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC20A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,55060286,55060286,G,A,P270959_F,MRPL15,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MRPL15,NM_014175:c.*7G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,72932195,72932195,A,G,P270959_F,MSC-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MSC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,77690746,77690746,A,C,P270959_F,ZFHX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFHX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86162204,86162204,G,A,P270959_F,CA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,93029403,93029403,T,A,P270959_F,RUNX1T1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNX1T1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100443698,100443698,C,T,P270959_F,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,102701732,102701732,C,A,P270959_F,NCALD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCALD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,113484950,113484950,G,A,P270959_F,CSMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121211948,121211948,T,C,P270959_F,COL14A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL14A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124450345,124450345,T,C,P270959_F,WDYHV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDYHV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125589758,125589758,A,G,P270959_F,MTSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125589769,125589769,T,C,P270959_F,MTSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131128907,131128907,C,T,P270959_F,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,134052225,134052225,T,C,P270959_F,SLA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLA;TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141570463,141570463,C,T,P270959_F,AGO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144063726,144063726,G,A,P270959_F,LY6E-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LY6E-DT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145162833,145162833,C,T,P270959_F,WDR97,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR97,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,429641,429641,C,T,P270959_F,DOCK8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,14748266,14748266,G,A,P270959_F,FREM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FREM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,16704662,16704662,T,G,P270959_F,BNC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,18474365,18474365,A,G,P270959_F,ADAMTSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,18474373,18474373,T,G,P270959_F,ADAMTSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35403687,35403687,G,T,P270959_F,UNC13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35679373,35679373,C,T,P270959_F,CA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36882264,36882264,T,C,P270959_F,PAX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415302,68415302,A,G,P270959_F,MIR4477B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4477B;LINC00537;MIR4477A,dist=6;dist=6,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79244027,79244027,A,G,P270959_F,PRUNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRUNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,84231246,84231246,A,C,P270959_F,TLE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86241331,86241331,G,T,P270959_F,IDNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,91972203,91972203,C,T,P270959_F,SECISBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SECISBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,94843042,94843042,A,G,P270959_F,SPTLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95991917,95991917,G,A,P270959_F,WNK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,98215671,98215671,T,C,P270959_F,PTCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,98215691,98215691,C,T,P270959_F,PTCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,98215701,98215701,T,C,P270959_F,PTCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113276401,113276401,G,T,P270959_F,SVEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115642189,115642189,G,A,P270959_F,SLC46A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC46A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123330746,123330746,G,A,P270959_F,CDK5RAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK5RAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123923439,123923439,C,T,P270959_F,CNTRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123937584,123937584,G,A,P270959_F,CNTRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127557190,127557190,A,T,P270959_F,OLFML2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OLFML2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127995910,127995910,C,T,P270959_F,RABEPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABEPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130571048,130571048,C,T,P270959_F,FPGS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FPGS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130864603,130864603,C,T,P270959_F,SLC25A25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131040832,131040832,A,G,P270959_F,SWI5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SWI5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131047005,131047005,T,C,P270959_F,SWI5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SWI5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132677430,132677430,G,A,P270959_F,FNBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133498012,133498012,A,T,P270959_F,FUBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133507295,133507295,C,T,P270959_F,FUBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133768700,133768700,G,A,P270959_F,QRFP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,QRFP,NM_198180:c.*115C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134363681,134363681,C,T,P270959_F,PRRC2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRRC2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136245787,136245787,C,A,P270959_F,STKLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STKLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139639606,139639606,C,T,P270959_F,LCN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140055498,140055498,T,C,P270959_F,GRIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140972747,140972747,T,C,P270959_F,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,1054449,1054449,G,A,P270959_F,GTPBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,1136318,1136318,T,C,P270959_F,WDR37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,3185794,3185794,G,A,P270959_F,PITRM1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PITRM1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,4882054,4882054,G,A,P270959_F,AKR1E2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1E2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6263537,6263537,C,T,P270959_F,PFKFB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKFB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6265870,6265870,A,G,P270959_F,PFKFB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKFB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,7290374,7290374,C,T,P270959_F,SFMBT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFMBT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,7697588,7697588,A,G,P270959_F,ITIH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,7817930,7817930,A,G,P270959_F,KIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13639549,13639549,C,T,P270959_F,PRPF18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15559275,15559275,G,A,P270959_F,ITGA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,29578013,29578013,C,T,P270959_F,LYZL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LYZL1,NM_032517:c.-2784C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,30654276,30654276,G,A,P270959_F,GOLGA2P6,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GOLGA2P6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,34408532,34408532,T,C,P270959_F,PARD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,34625262,34625262,C,T,P270959_F,PARD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,62646049,62646049,C,A,P270959_F,RHOBTB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOBTB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,64414530,64414530,C,T,P270959_F,ZNF365,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF365,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,69966396,69966396,C,T,P270959_F,MYPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75286284,75286284,T,C,P270959_F,USP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75294262,75294262,T,C,P270959_F,USP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,81923801,81923801,G,A,P270959_F,ANXA11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,86007159,86007159,T,C,P270959_F,RGR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95266606,95266606,T,C,P270959_F,CEP55,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95720289,95720289,T,G,P270959_F,PIPSL,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIPSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96081906,96081906,T,C,P270959_F,PLCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99502776,99502776,G,A,P270959_F,ZFYVE27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFYVE27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,100148072,100148072,G,A,P270959_F,PYROXD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYROXD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,101476028,101476028,C,G,P270959_F,COX15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102054960,102054960,G,A,P270959_F,PKD2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102739159,102739159,A,G,P270959_F,MRPL43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL43;SEMA4G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102771809,102771809,G,A,P270959_F,PDZD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDZD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103869635,103869635,G,A,P270959_F,LDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104238642,104238642,T,C,P270959_F,ACTR1A,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,ACTR1A,dist=344,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104557948,104557948,C,A,P270959_F,WBP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WBP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115381592,115381592,T,C,P270959_F,NRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115481368,115481368,C,A,P270959_F,CASP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,116032421,116032421,C,T,P270959_F,VWA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,121663493,121663493,G,A,P270959_F,SEC23IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC23IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,121663494,121663494,G,A,P270959_F,SEC23IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC23IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,121675251,121675251,C,T,P270959_F,SEC23IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC23IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123311011,123311011,A,G,P270959_F,FGFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123974886,123974886,G,A,P270959_F,TACC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TACC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,131755486,131755486,C,T,P270959_F,EBF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EBF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134894024,134894024,C,T,P270959_F,LINC01168,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01168;ADGRA1-AS1,dist=104023;dist=4729,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135123502,135123502,C,T,P270959_F,ZNF511,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF511,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,309353,309353,G,A,P270959_F,IFITM2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IFITM2,NM_006435:c.*188G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,985618,985618,G,A,P270959_F,AP2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1957395,1957395,C,T,P270959_F,TNNT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2418157,2418157,C,T,P270959_F,CD81,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CD81,NM_001297649:c.*61C>T;NM_004356:c.*61C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3832767,3832767,C,T,P270959_F,PGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4622387,4622387,G,A,P270959_F,TRIM68,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8693751,8693751,C,T,P270959_F,TRIM66,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM66;RPL27A,dist=13368;dist=10588,NA,NA,NA,NA,NA,NA,NA,NA
chr11,10824428,10824428,T,A,P270959_F,EIF4G2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4G2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17390226,17390226,C,T,P270959_F,NCR3LG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCR3LG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17940200,17940200,T,C,P270959_F,SERGEF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERGEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18387436,18387436,G,T,P270959_F,GTF2H1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GTF2H1,NM_001142307:c.*20G>T;NM_005316:c.*20G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18523921,18523921,T,G,P270959_F,TSG101,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSG101,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22363343,22363343,C,T,P270959_F,SLC17A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,44609181,44609181,G,A,P270959_F,CD82,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD82,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47202496,47202496,C,T,P270959_F,PACSIN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACSIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47399813,47399813,C,T,P270959_F,SPI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47504427,47504427,G,A,P270959_F,CELF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47701462,47701462,A,G,P270959_F,AGBL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGBL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49426915,49426915,C,T,P270959_F,FOLH1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FOLH1;LOC440040,dist=196761;dist=153165,NA,NA,NA,NA,NA,NA,NA,NA
chr11,56570142,56570142,C,T,P270959_F,MIR6128,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR6128;LINC02735,dist=58685;dist=45812,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61305527,61305527,G,A,P270959_F,SYT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62469817,62469817,C,T,P270959_F,HNRNPUL2-BSCL2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HNRNPUL2-BSCL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62565923,62565923,G,A,P270959_F,NXF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NXF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62592490,62592490,G,A,P270959_F,STX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65147468,65147468,C,A,P270959_F,SLC25A45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65637534,65637534,G,A,P270959_F,EFEMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFEMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65803138,65803138,G,A,P270959_F,CATSPER1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CATSPER1;GAL3ST3,dist=9188;dist=5098,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66051021,66051021,A,G,P270959_F,CNIH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNIH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66302644,66302644,A,G,P270959_F,ZDHHC24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66456105,66456105,G,A,P270959_F,SPTBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67829386,67829386,G,A,P270959_F,CHKA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHKA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71149008,71149008,C,T,P270959_F,DHCR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHCR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71184516,71184516,G,A,P270959_F,NADSYN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NADSYN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71928463,71928463,C,T,P270959_F,FOLR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLR2,NA,NA,NA,D,.,N,T,N,T
chr11,72540184,72540184,G,A,P270959_F,ATG16L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG16L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73075373,73075373,A,G,P270959_F,ARHGEF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,82996826,82996826,C,T,P270959_F,CCDC90B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCDC90B,NM_001286117:c.-7037G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,86568943,86568943,C,T,P270959_F,OR7E2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR7E2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102487489,102487489,A,G,P270959_F,MMP20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113146196,113146196,G,A,P270959_F,NCAM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NCAM1,NM_000615:c.*87G>A;NM_001242607:c.*87G>A;NM_181351:c.*87G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,114273409,114273409,C,G,P270959_F,RBM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117042213,117042213,T,C,P270959_F,PAFAH1B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAFAH1B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117153073,117153073,G,A,P270959_F,RNF214,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF214,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119181198,119181198,A,C,P270959_F,MCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,120916684,120916684,G,A,P270959_F,TBCEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121420850,121420850,C,T,P270959_F,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125851255,125851255,G,A,P270959_F,CDON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134147583,134147583,G,A,P270959_F,GLB1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134147986,134147986,C,A,P270959_F,GLB1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134176977,134176977,G,T,P270959_F,GLB1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,432396,432396,A,G,P270959_F,KDM5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2777999,2777999,C,T,P270959_F,CACNA1C-AS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CACNA1C-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3390995,3390995,G,A,P270959_F,TSPAN9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7026600,7026600,G,A,P270959_F,ENO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9016709,9016709,G,T,P270959_F,A2ML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,A2ML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9021040,9021040,A,G,P270959_F,A2ML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,A2ML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,14928560,14928560,G,A,P270959_F,H2AFJ,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,H2AFJ,NM_177925:c.*766G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21680127,21680127,G,A,P270959_F,SPX,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SPX,NM_030572:exon3:c.145+1G>A,NA,NA,.,.,D,.,.,.
chr12,31552785,31552785,G,A,P270959_F,DENND5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,39299173,39299173,G,A,P270959_F,CPNE8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,42768446,42768446,T,C,P270959_F,PPHLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPHLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46240584,46240584,G,A,P270959_F,ARID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48174625,48174625,T,C,P270959_F,SLC48A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC48A1,NM_017842:c.*561T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51733628,51733628,C,T,P270959_F,CELA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52881480,52881480,G,A,P270959_F,KRT6A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRT6A,NM_005554:c.*24C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56703660,56703660,C,G,P270959_F,CNPY2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CNPY2,NM_014255:c.*676G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57625948,57625948,C,T,P270959_F,SHMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57881840,57881840,G,A,P270959_F,ARHGAP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58177603,58177603,C,T,P270959_F,TSFM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSFM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,65226176,65226176,T,C,P270959_F,TBC1D30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,65881855,65881855,T,C,P270959_F,LOC100507065,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100507065,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69186447,69186447,C,T,P270959_F,SLC35E3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC35E3;LOC100130075,dist=11199;dist=11770,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80821282,80821282,C,T,P270959_F,OTOGL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OTOGL;PTPRQ,dist=46622;dist=16733,NA,NA,D,.,.,T,N,T
chr12,102133204,102133204,G,A,P270959_F,SYCP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SYCP3,NM_153694:c.-1491C>T;NM_001177948:c.-1491C>T;NM_001177949:c.-1491C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,103234109,103234109,C,T,P270959_F,PAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104714861,104714861,T,C,P270959_F,TXNRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105433644,105433644,T,C,P270959_F,ALDH1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105433659,105433659,C,A,P270959_F,ALDH1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,107002573,107002573,A,T,P270959_F,RFX4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RFX4,NM_213594:exon2:c.44-2A>T;NM_001206691:exon2:c.71-2A>T,NA,NA,.,.,D,.,.,.
chr12,110009324,110009324,C,T,P270959_F,MMAB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMAB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112481112,112481112,C,T,P270959_F,NAA25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113866038,113866038,C,T,P270959_F,SDSL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117155724,117155724,G,A,P270959_F,C12orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120600616,120600616,G,A,P270959_F,GCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121154388,121154388,G,T,P270959_F,UNC119B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC119B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121690332,121690332,T,A,P270959_F,CAMKK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122295158,122295158,C,G,P270959_F,HPD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123355625,123355625,A,T,P270959_F,VPS37B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS37B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,125587135,125587135,A,C,P270959_F,AACS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AACS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,125810930,125810930,G,A,P270959_F,TMEM132B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM132B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129411050,129411050,G,A,P270959_F,GLT1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLT1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129558410,129558410,T,C,P270959_F,TMEM132D,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM132D,NM_133448:c.*10A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr12,130521245,130521245,G,A,P270959_F,LINC02418,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02418,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132589453,132589453,C,T,P270959_F,EP400P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,EP400P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,36413146,36413146,C,T,P270959_F,DCLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52390817,52390817,C,G,P270959_F,TMEM272,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM272,NM_001351003:c.*70G>C;NM_001351005:c.*70G>C;NM_001351006:c.*70G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53034867,53034867,A,G,P270959_F,CKAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,97998993,97998993,C,T,P270959_F,MBNL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99447429,99447429,C,T,P270959_F,DOCK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99476920,99476920,T,C,P270959_F,DOCK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,101315642,101315642,A,G,P270959_F,TMTC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMTC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113744418,113744418,C,T,P270959_F,MCF2L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MCF2L,NM_001320817:c.*222C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114498388,114498388,T,G,P270959_F,TMEM255B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM255B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114762243,114762243,C,T,P270959_F,RASA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22392358,22392358,G,A,P270959_F,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=253126;dist=455450,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31813082,31813082,G,A,P270959_F,HEATR5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35560167,35560167,T,C,P270959_F,LOC101927178,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927178,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39737055,39737055,C,T,P270959_F,MIA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50825634,50825634,T,A,P270959_F,CDKL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51379113,51379113,T,G,P270959_F,PYGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,56746269,56746269,G,A,P270959_F,PELI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PELI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,61435186,61435186,A,G,P270959_F,MNAT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MNAT1,NM_002431:c.*119A>G;NM_001177963:c.*119A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64468818,64468818,A,G,P270959_F,SYNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64947062,64947062,A,G,P270959_F,ZBTB25,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB25,NM_006977:c.*6579T>C;NM_001354682:c.*6579T>C;NM_001354686:c.*6579T>C;NM_001354685:c.*6579T>C;NM_001354684:c.*6579T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69376165,69376165,C,T,P270959_F,ACTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73007165,73007165,G,A,P270959_F,RGS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73637418,73637418,C,T,P270959_F,PSEN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSEN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74156000,74156000,T,G,P270959_F,DNAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74162511,74162511,C,T,P270959_F,DNAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74535691,74535691,G,A,P270959_F,ALDH6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74755568,74755568,A,G,P270959_F,ABCD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75572830,75572830,A,G,P270959_F,NEK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76966886,76966886,T,C,P270959_F,ESRRB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESRRB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91110601,91110601,G,A,P270959_F,LOC101928909,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928909,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91662862,91662862,G,A,P270959_F,DGLUCY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGLUCY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94071468,94071468,G,A,P270959_F,UNC79,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC79,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94595060,94595060,A,G,P270959_F,IFI27L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFI27L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,99924898,99924898,G,A,P270959_F,SETD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101514928,101514928,T,G,P270959_F,MIR381HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR381HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102478454,102478454,C,T,P270959_F,DYNC1H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102605474,102605474,G,A,P270959_F,HSP90AA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSP90AA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103361407,103361407,C,T,P270959_F,TRAF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104151394,104151394,C,T,P270959_F,KLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104493292,104493292,G,A,P270959_F,TDRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105206207,105206207,G,A,P270959_F,ADSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105821574,105821574,G,A,P270959_F,PACS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106994129,106994129,A,T,P270959_F,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=42600;dist=264971,NA,NA,NA,NA,NA,NA,NA,NA
chr14,107078438,107078438,T,G,P270959_F,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=126909;dist=180662,NA,NA,NA,NA,NA,NA,NA,NA
chr15,21145699,21145699,C,T,P270959_F,LINC01193,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LINC01193;MIR5701-1;MIR5701-2;MIR5701-3,dist=68;dist=37,NA,NA,NA,NA,NA,NA,NA,NA
chr15,21145762,21145762,G,A,P270959_F,LINC01193,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LINC01193;MIR5701-1;MIR5701-2;MIR5701-3,dist=5;dist=100,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22929913,22929913,G,A,P270959_F,CYFIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYFIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25436826,25436826,G,A,P270959_F,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,27516606,27516606,G,A,P270959_F,GABRG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,31340211,31340211,G,A,P270959_F,TRPM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,32691103,32691103,C,T,P270959_F,GOLGA8K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA8K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,37402279,37402279,G,A,P270959_F,MEIS2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MEIS2;TMCO5A,dist=8767;dist=824529,NA,NA,NA,NA,NA,NA,NA,NA
chr15,38229541,38229541,T,C,P270959_F,TMCO5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMCO5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,39888041,39888041,C,T,P270959_F,THBS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,THBS1,NM_003246:c.*471C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40019053,40019053,A,C,P270959_F,FSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41766797,41766797,C,T,P270959_F,RTF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43009318,43009318,G,A,P270959_F,STARD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STARD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43092611,43092611,C,T,P270959_F,TTBK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTBK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45412547,45412547,G,A,P270959_F,DUOXA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUOXA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50935479,50935479,C,T,P270959_F,TRPM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52264046,52264046,C,T,P270959_F,LEO1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LEO1,dist=48,NA,NA,NA,NA,NA,NA,NA,NA
chr15,60970805,60970805,G,A,P270959_F,RORA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RORA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64419459,64419459,C,T,P270959_F,SNX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64437853,64437853,A,G,P270959_F,SNX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SNX1;SNX22,dist=1425;dist=6077,NA,NA,T,.,.,.,N,.
chr15,65694845,65694845,G,T,P270959_F,IGDCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGDCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65703339,65703339,G,A,P270959_F,IGDCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGDCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72139645,72139645,C,T,P270959_F,MYO9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75916994,75916994,T,C,P270959_F,SNUPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNUPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78470924,78470924,A,G,P270959_F,ACSBG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSBG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,79271765,79271765,C,T,P270959_F,LOC100129540,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100129540,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,80472452,80472452,T,C,P270959_F,FAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84700192,84700192,C,T,P270959_F,ADAMTSL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91030720,91030720,G,A,P270959_F,IQGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91435374,91435374,G,T,P270959_F,FES,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FES,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,94442453,94442453,G,A,P270959_F,LINC01579,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01579,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,100339827,100339827,C,T,P270959_F,DNM1P46,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNM1P46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,532341,532341,T,C,P270959_F,RAB11FIP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1695469,1695469,A,G,P270959_F,CRAMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRAMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2000743,2000743,G,T,P270959_F,RPL3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2016684,2016684,T,C,P270959_F,RNF151,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RNF151,dist=173,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3452485,3452485,A,G,P270959_F,ZNF174,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF174,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3614836,3614836,G,A,P270959_F,NLRC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4630134,4630134,G,T,P270959_F,C16orf96,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4795145,4795145,G,A,P270959_F,C16orf71,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf71,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10992772,10992772,C,T,P270959_F,CIITA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIITA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11824275,11824275,C,T,P270959_F,TXNDC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11850079,11850079,C,T,P270959_F,ZC3H7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,12449959,12449959,C,T,P270959_F,SNX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14960353,14960353,G,A,P270959_F,NOMO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOMO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15126535,15126535,T,C,P270959_F,PDXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15159001,15159001,C,T,P270959_F,PDXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXDC1;RRN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,16218944,16218944,C,T,P270959_F,ABCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,17202992,17202992,T,C,P270959_F,XYLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XYLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19127461,19127461,G,A,P270959_F,ITPRIPL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ITPRIPL2,NM_001034841:c.*70G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21517285,21517285,C,T,P270959_F,MIR3680-1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR3680-1;MIR3680-2,dist=85,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23224605,23224605,A,G,P270959_F,SCNN1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCNN1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24828128,24828128,C,T,P270959_F,TNRC6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNRC6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24883268,24883268,G,T,P270959_F,SLC5A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27556549,27556549,C,T,P270959_F,GTF3C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30748292,30748292,A,G,P270959_F,SRCAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRCAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31287943,31287943,A,G,P270959_F,ITGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31419258,31419258,G,A,P270959_F,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31613639,31613639,A,G,P270959_F,YBX3P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,YBX3P1;CLUHP3,dist=32794;dist=98295,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31766441,31766441,G,A,P270959_F,ZNF720,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF720,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32888947,32888947,G,A,P270959_F,SLC6A10P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SLC6A10P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,34267322,34267322,T,A,P270959_F,CCNYL3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCNYL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50067942,50067942,T,G,P270959_F,CNEP1R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNEP1R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816460,50816460,A,T,P270959_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55532372,55532372,C,T,P270959_F,MMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55810825,55810825,G,A,P270959_F,CES1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CES1P1;CES1,dist=1999;dist=25939,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57559769,57559769,C,T,P270959_F,CCDC102A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC102A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58318662,58318662,G,A,P270959_F,PRSS54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58610304,58610304,C,T,P270959_F,CNOT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66847634,66847634,C,T,P270959_F,NAE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67223446,67223446,T,C,P270959_F,EXOC3L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC3L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67654581,67654581,G,A,P270959_F,CTCF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTCF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67854626,67854626,A,G,P270959_F,TSNAXIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSNAXIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69293939,69293939,C,T,P270959_F,SNTB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNTB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70405775,70405775,T,C,P270959_F,DDX19A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX19A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71418631,71418631,C,A,P270959_F,CALB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,76343767,76343767,C,T,P270959_F,CNTNAP4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CNTNAP4,NM_138994:c.-27C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,78725097,78725097,C,T,P270959_F,WWOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81640607,81640607,C,T,P270959_F,CMIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CMIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84211215,84211215,A,G,P270959_F,DNAAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89785383,89785383,C,A,P270959_F,VPS9D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS9D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89930325,89930325,G,A,P270959_F,SPIRE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPIRE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,90162338,90162338,T,C,P270959_F,PRDM7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRDM7;FAM157B,dist=20000;dist=6129,NA,NA,NA,NA,NA,NA,NA,NA
chr16,90162340,90162340,C,T,P270959_F,PRDM7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRDM7;FAM157B,dist=20002;dist=6127,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1632014,1632014,T,C,P270959_F,WDR81,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR81,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2233440,2233440,C,T,P270959_F,TSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2370987,2370987,A,T,P270959_F,METTL16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3436281,3436281,C,T,P270959_F,TRPV3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4579525,4579525,C,T,P270959_F,PELP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PELP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4683950,4683950,G,A,P270959_F,TM4SF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM4SF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7497345,7497345,G,A,P270959_F,FXR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7707524,7707524,G,A,P270959_F,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,11985275,11985275,C,T,P270959_F,MIR744,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR744,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16203101,16203101,C,T,P270959_F,PIGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17067284,17067284,G,A,P270959_F,MPRIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPRIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17163866,17163866,T,C,P270959_F,COPS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,25969130,25969130,C,T,P270959_F,LGALS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26821327,26821327,A,G,P270959_F,SLC13A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27061684,27061684,A,G,P270959_F,NEK8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28535983,28535983,A,G,P270959_F,SLC6A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843737,29843737,T,C,P270959_F,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843765,29843765,G,A,P270959_F,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843774,29843774,C,T,P270959_F,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33446049,33446049,A,G,P270959_F,RAD51L3-RFFL,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RAD51L3-RFFL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36626169,36626169,G,A,P270959_F,ARHGAP23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38122443,38122443,A,G,P270959_F,GSDMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSDMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38638723,38638723,C,T,P270959_F,TNS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38712177,38712177,A,G,P270959_F,CCR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39913862,39913862,G,A,P270959_F,JUP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JUP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40135434,40135434,C,T,P270959_F,DNAJC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41019939,41019939,G,A,P270959_F,AOC4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AOC4P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42286363,42286363,C,G,P270959_F,UBTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45412530,45412530,A,G,P270959_F,EFCAB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45664593,45664593,C,T,P270959_F,NPEPPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPEPPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46111374,46111374,G,A,P270959_F,COPZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46133969,46133969,G,A,P270959_F,NFE2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFE2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47924207,47924207,G,T,P270959_F,FLJ45513,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLJ45513;TAC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48607591,48607591,G,A,P270959_F,MYCBPAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYCBPAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,53844547,53844547,T,C,P270959_F,PCTP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCTP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,53844565,53844565,T,C,P270959_F,PCTP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCTP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,54967963,54967963,G,A,P270959_F,TRIM25,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRIM25,NM_005082:c.*1098C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58009147,58009147,G,A,P270959_F,RPS6KB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58126771,58126771,A,G,P270959_F,HEATR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60753279,60753279,C,T,P270959_F,MRC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61562880,61562880,G,A,P270959_F,ACE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61898091,61898091,T,C,P270959_F,FTSJ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FTSJ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62500035,62500035,G,A,P270959_F,DDX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67102368,67102368,T,C,P270959_F,ABCA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73622724,73622724,G,A,P270959_F,MYO15B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYO15B,NM_001309242:c.*160G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73713425,73713425,T,C,P270959_F,SAP30BP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SAP30BP;ITGB4,dist=9283;dist=4114,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73847924,73847924,C,T,P270959_F,WBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74151442,74151442,C,T,P270959_F,RNF157,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF157,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76267375,76267375,T,C,P270959_F,LINC01993,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01993,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76732535,76732535,T,C,P270959_F,CYTH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78215634,78215634,C,T,P270959_F,SLC26A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC26A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,706601,706601,C,T,P270959_F,ENOSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENOSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,13423535,13423535,C,T,P270959_F,LDLRAD4-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LDLRAD4-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19053269,19053269,A,G,P270959_F,GREB1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GREB1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19383856,19383856,T,A,P270959_F,MIB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21451645,21451645,G,A,P270959_F,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,34844752,34844752,C,T,P270959_F,CELF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,52585102,52585102,T,A,P270959_F,CCDC68,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,68317846,68317846,C,A,P270959_F,GTSCR1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GTSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,72228055,72228055,G,A,P270959_F,CNDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77802015,77802015,C,T,P270959_F,RBFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1109240,1109240,C,T,P270959_F,SBNO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBNO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1128203,1128203,G,A,P270959_F,SBNO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBNO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2138836,2138836,A,G,P270959_F,AP3D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2223210,2223210,C,T,P270959_F,DOT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2643059,2643059,C,T,P270959_F,GNG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3825209,3825209,C,T,P270959_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3964241,3964241,C,T,P270959_F,DAPK3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DAPK3,NM_001348:exon4:c.553+1G>A,NA,NA,.,.,D,.,.,.
chr19,4680039,4680039,T,C,P270959_F,DPP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP9;DPP9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4947369,4947369,T,C,P270959_F,UHRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UHRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5924961,5924961,G,A,P270959_F,RANBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5931389,5931389,G,A,P270959_F,RANBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6026086,6026086,G,A,P270959_F,RFX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6760462,6760462,T,G,P270959_F,SH2D3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2D3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6833350,6833350,C,T,P270959_F,VAV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7986784,7986784,C,T,P270959_F,SNAPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNAPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8402510,8402510,A,G,P270959_F,KANK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8402643,8402643,G,A,P270959_F,KANK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8533529,8533529,C,T,P270959_F,HNRNPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8587169,8587169,A,G,P270959_F,MYO1F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9043626,9043626,G,A,P270959_F,MUC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9804632,9804632,T,A,P270959_F,ZNF812P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF812P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10091320,10091320,T,A,P270959_F,COL5A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11144396,11144396,C,T,P270959_F,SMARCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11459266,11459266,C,T,P270959_F,CCDC159,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC159,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12037392,12037392,T,C,P270959_F,ZNF700,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF700,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12140841,12140841,A,G,P270959_F,ZNF433-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF433-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12876380,12876380,A,G,P270959_F,HOOK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOOK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12979807,12979807,G,A,P270959_F,MAST1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAST1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14006453,14006453,C,T,P270959_F,C19orf57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14863037,14863037,G,A,P270959_F,ADGRE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16905191,16905191,T,A,P270959_F,NWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16962113,16962113,G,A,P270959_F,SIN3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIN3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17443657,17443657,G,A,P270959_F,ANO8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17671293,17671293,C,T,P270959_F,COLGALT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLGALT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17973464,17973464,C,T,P270959_F,SNORA68,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORA68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18992899,18992899,A,G,P270959_F,CERS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERS1;GDF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19603525,19603525,C,T,P270959_F,GATAD2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GATAD2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33291291,33291291,A,G,P270959_F,TDRD12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33417746,33417746,A,G,P270959_F,CEP89,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP89,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33586592,33586592,T,G,P270959_F,GPATCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33609047,33609047,G,A,P270959_F,GPATCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35899127,35899127,G,A,P270959_F,LINC01531,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01531,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36149333,36149333,C,T,P270959_F,COX6B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX6B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36341098,36341098,A,G,P270959_F,NPHS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPHS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36353517,36353517,G,A,P270959_F,KIRREL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIRREL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36611724,36611724,C,T,P270959_F,TBCB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37406687,37406687,T,C,P270959_F,ZNF829,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF829,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38834876,38834876,C,T,P270959_F,CATSPERG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39066422,39066422,A,G,P270959_F,RYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39208035,39208035,C,T,P270959_F,ACTN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39228072,39228072,G,A,P270959_F,CAPN12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39591011,39591011,C,T,P270959_F,ACP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39819720,39819720,G,A,P270959_F,GMFG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GMFG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39869282,39869282,T,C,P270959_F,SAMD4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMD4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40318314,40318314,G,A,P270959_F,DYRK1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYRK1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41401475,41401475,A,G,P270959_F,CYP2G1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CYP2G1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44111548,44111548,A,C,P270959_F,ZNF428,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF428,NM_182498:c.*221T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44160401,44160401,T,C,P270959_F,PLAUR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLAUR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44580716,44580716,G,A,P270959_F,ZNF284,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF284,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45783751,45783751,C,T,P270959_F,MARK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45939934,45939934,G,A,P270959_F,MIR6088,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR6088,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46206076,46206076,A,T,P270959_F,QPCTL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QPCTL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46253868,46253868,C,T,P270959_F,BHMG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BHMG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47126443,47126443,A,G,P270959_F,PTGIR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGIR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48709433,48709433,C,G,P270959_F,CARD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48741872,48741872,A,G,P270959_F,CARD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49318540,49318540,C,T,P270959_F,HSD17B14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49548602,49548602,T,C,P270959_F,CGB5,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,CGB5,dist=34,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50921226,50921226,C,T,P270959_F,POLD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,POLD1,NM_001256849:c.*22C>T;NM_002691:c.*22C>T;NM_001308632:c.*22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51453547,51453547,A,G,P270959_F,KLK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51530680,51530680,G,A,P270959_F,KLK11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52085231,52085231,G,A,P270959_F,ZNF175,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF175,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52785610,52785610,T,C,P270959_F,ZNF766,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF766,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52785654,52785654,T,C,P270959_F,ZNF766,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF766,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53849684,53849684,G,A,P270959_F,ZNF845,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF845,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54135213,54135213,A,G,P270959_F,DPRX,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DPRX,dist=97,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54317897,54317897,A,G,P270959_F,NLRP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54627019,54627019,G,A,P270959_F,PRPF31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56693420,56693420,G,A,P270959_F,GALP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57722647,57722647,C,T,P270959_F,ZNF264,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF264,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58455461,58455461,G,A,P270959_F,ZNF256,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF256,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58788472,58788472,C,T,P270959_F,ZNF544,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF544,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,59093778,59093778,G,A,P270959_F,CENPBD1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CENPBD1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3018812,3018812,G,A,P270959_F,PTPRA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTPRA,NM_002836:c.*33G>A;NM_080840:c.*33G>A;NM_080841:c.*33G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5156023,5156023,C,T,P270959_F,CDS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5556708,5556708,G,C,P270959_F,GPCPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPCPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5990621,5990621,G,A,P270959_F,CRLS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRLS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10579538,10579538,G,A,P270959_F,SLX4IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLX4IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10624270,10624270,G,A,P270959_F,JAG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,15948346,15948346,A,C,P270959_F,LOC613266,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC613266,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,23858075,23858075,T,C,P270959_F,CST5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CST5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31451557,31451557,G,T,P270959_F,EFCAB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32250127,32250127,G,A,P270959_F,NECAB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECAB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32684442,32684442,G,A,P270959_F,EIF2S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33150328,33150328,C,A,P270959_F,PIGU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37659533,37659533,T,C,P270959_F,DHX35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50287816,50287816,A,G,P270959_F,ATP9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50290546,50290546,G,A,P270959_F,ATP9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50312739,50312739,T,G,P270959_F,ATP9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56822451,56822451,T,G,P270959_F,PPP4R1L,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PPP4R1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61510583,61510583,G,A,P270959_F,DIDO1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DIDO1,NM_033081:c.*2C>T;NM_001193369:c.*2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61880144,61880144,G,A,P270959_F,NKAIN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NKAIN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62293158,62293158,G,A,P270959_F,RTEL1-TNFRSF6B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RTEL1-TNFRSF6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62658310,62658310,G,A,P270959_F,PRPF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10862739,10862739,T,C,P270959_F,TEKT4P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TEKT4P2;TPTE,dist=894145;dist=43448,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34902045,34902045,A,G,P270959_F,GART,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GART,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,36079521,36079521,G,A,P270959_F,CLIC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37752445,37752445,A,G,P270959_F,MORC3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MORC3;CHAF1B,dist=3501;dist=5245,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40887097,40887097,C,T,P270959_F,SH3BGR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SH3BGR;WRB-SH3BGR,NM_001317742:c.*117C>T;NM_001001713:c.*117C>T;NM_001317741:c.*117C>T;NM_001317740:c.*117C>T;NM_007341:c.*117C>T;NM_001350300:c.*11C>T;NM_001317744:c.*117C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr21,42852608,42852608,T,C,P270959_F,TMPRSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43514017,43514017,C,T,P270959_F,UMODL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UMODL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45154117,45154117,G,A,P270959_F,PDXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45509438,45509438,C,T,P270959_F,TRAPPC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45717384,45717384,C,T,P270959_F,AIRE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AIRE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47581820,47581820,C,T,P270959_F,SPATC1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATC1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47986669,47986669,G,A,P270959_F,DIP2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIP2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18189527,18189527,T,C,P270959_F,BCL2L13,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,BCL2L13,NM_001270733:c.-20156T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19241369,19241369,A,G,P270959_F,CLTCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22023713,22023713,T,C,P270959_F,PPIL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22712557,22712557,C,T,P270959_F,BMS1P20,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,BMS1P20;ZNF280B,dist=35233;dist=126214,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23256352,23256352,C,A,P270959_F,IGLL5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IGLL5;RSPH14,dist=18061;dist=145241,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24943108,24943108,G,A,P270959_F,GUCD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25151714,25151714,G,A,P270959_F,PIWIL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIWIL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29125277,29125277,T,A,P270959_F,CHEK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHEK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31006329,31006329,C,T,P270959_F,TCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31286659,31286659,C,T,P270959_F,LOC107985544,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC107985544,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31946168,31946168,G,A,P270959_F,SFI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35726232,35726232,A,G,P270959_F,TOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37531274,37531274,A,G,P270959_F,IL2RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37531289,37531289,C,T,P270959_F,IL2RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38308048,38308048,A,G,P270959_F,MICALL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICALL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38333721,38333721,A,G,P270959_F,MICALL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICALL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38384626,38384626,G,C,P270959_F,POLR2F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39105052,39105052,C,T,P270959_F,GTPBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39417301,39417301,C,T,P270959_F,APOBEC3D,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,APOBEC3D,NM_001363781:c.-224C>T;NM_152426:c.-224C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42033880,42033880,A,G,P270959_F,XRCC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRCC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42033883,42033883,G,C,P270959_F,XRCC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRCC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42047059,42047059,T,C,P270959_F,XRCC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRCC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42806441,42806441,G,A,P270959_F,NFAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46829221,46829221,T,C,P270959_F,CELSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50902928,50902928,G,A,P270959_F,SBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,10092158,10092158,G,A,P270959_F,WWC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15677333,15677333,A,G,P270959_F,CLTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15677337,15677337,G,A,P270959_F,CLTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,18671817,18671817,A,G,P270959_F,RS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19555933,19555933,C,T,P270959_F,SH3KBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3KBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,29938026,29938026,C,G,P270959_F,IL1RAPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RAPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,30692216,30692216,G,A,P270959_F,GK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,44397482,44397482,T,G,P270959_F,FUNDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUNDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,44970787,44970787,C,T,P270959_F,KDM6A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KDM6A,NM_001291421:c.*131C>T;NM_021140:c.*131C>T;NM_001291416:c.*131C>T;NM_001291415:c.*131C>T;NM_001291418:c.*131C>T;NM_001291417:c.*131C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,46401611,46401611,C,T,P270959_F,ZNF674,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF674,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47098917,47098917,G,A,P270959_F,USP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47106830,47106830,G,A,P270959_F,USP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47487932,47487932,C,T,P270959_F,CFP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48935597,48935597,C,T,P270959_F,WDR45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49104255,49104255,G,A,P270959_F,CCDC22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54473529,54473529,G,T,P270959_F,TSR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TSR2,NM_001346790:c.*2546G>T;NM_001346792:c.*2546G>T;NM_001346791:c.*2546G>T;NM_001346789:c.*2546G>T;NM_058163:c.*2546G>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54483097,54483097,A,G,P270959_F,FGD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,55035888,55035888,T,G,P270959_F,ALAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,64749074,64749074,T,G,P270959_F,LAS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70341311,70341311,G,A,P270959_F,MED12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,77285066,77285066,T,A,P270959_F,ATP7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100170095,100170095,C,A,P270959_F,XKRX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XKRX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100244328,100244328,T,C,P270959_F,ARL13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100609768,100609768,C,T,P270959_F,BTK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,103268354,103268354,C,A,P270959_F,H2BFWT,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,H2BFWT,dist=95,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110925532,110925532,C,T,P270959_F,ALG13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,112033809,112033809,T,A,P270959_F,AMOT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMOT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117677689,117677689,A,G,P270959_F,DOCK11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,128877856,128877856,C,T,P270959_F,XPNPEP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPNPEP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129265876,129265876,T,C,P270959_F,AIFM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AIFM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129492865,129492865,G,A,P270959_F,SLC25A14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,134679275,134679275,C,T,P270959_F,INTS6L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS6L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,135765012,135765012,G,A,P270959_F,ARHGEF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,137792975,137792975,C,T,P270959_F,FGF13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,146342193,146342193,A,T,P270959_F,MIR509-1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR509-1;MIR509-2;MIR509-3,dist=50,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153283386,153283386,C,T,P270959_F,IRAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153668035,153668035,C,A,P270959_F,GDI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,792262,792262,C,T,P270959_S,LINC01128,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1152880,1152880,G,A,P270959_S,SDF4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SDF4,NM_016547:c.*170C>T;NM_016176:c.*12C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1234600,1234600,G,A,P270959_S,ACAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1562985,1562985,C,T,P270959_S,MIB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1718954,1718954,C,T,P270959_S,GNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2541397,2541397,G,A,P270959_S,MMEL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9211836,9211836,C,T,P270959_S,MIR34A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR34A;MIR34AHG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9783872,9783872,C,T,P270959_S,PIK3CD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9794970,9794970,G,A,P270959_S,CLSTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLSTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11882907,11882907,G,A,P270959_S,CLCN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16748519,16748519,T,A,P270959_S,SPATA21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893873,16893873,T,C,P270959_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16955044,16955044,T,C,P270959_S,CROCCP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CROCCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19651054,19651054,C,T,P270959_S,SLC66A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC66A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19775320,19775320,C,T,P270959_S,CAPZB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPZB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20250066,20250066,G,A,P270959_S,PLA2G2E,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PLA2G2E,NM_014589:c.-14C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20676740,20676740,C,T,P270959_S,VWA5B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA5B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23239919,23239919,G,A,P270959_S,EPHB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25630054,25630054,C,T,P270959_S,RHD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHD;RSRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25630057,25630057,C,T,P270959_S,RHD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHD;RSRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26098321,26098321,C,T,P270959_S,MAN1C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN1C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27685429,27685429,G,A,P270959_S,MAP3K6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31208121,31208121,A,G,P270959_S,LAPTM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAPTM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35442104,35442104,C,T,P270959_S,LOC653160,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC653160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36552969,36552969,C,T,P270959_S,TEKT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEKT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36786441,36786441,C,T,P270959_S,SH3D21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3D21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39549882,39549882,G,A,P270959_S,MACF1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MACF1,NM_012090:c.-9G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43217807,43217807,G,A,P270959_S,P3H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P3H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43748413,43748413,C,T,P270959_S,C1orf210,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C1orf210,NM_182517:c.*43G>A;NM_001164829:c.*43G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43881782,43881782,A,C,P270959_S,SZT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SZT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44463755,44463755,C,T,P270959_S,SLC6A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45286316,45286316,C,T,P270959_S,PTCH2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTCH2,NM_001166292:c.*45G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46658465,46658465,G,A,P270959_S,POMGNT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POMGNT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51776809,51776809,A,T,P270959_S,TTC39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51808790,51808790,C,T,P270959_S,TTC39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54059747,54059747,C,T,P270959_S,GLIS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLIS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,60474424,60474424,G,A,P270959_S,C1orf87,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf87,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,79002072,79002072,G,A,P270959_S,PTGFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,87101506,87101506,A,G,P270959_S,CLCA3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CLCA3P;CLCA4-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100152191,100152191,T,C,P270959_S,MIR548N,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR548N,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114636332,114636332,C,T,P270959_S,SYT6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,117037060,117037060,C,T,P270959_S,LINC01762,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01762;CD58,dist=15612;dist=20096,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118501407,118501407,G,A,P270959_S,SPAG17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG17;WDR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148004867,148004867,A,C,P270959_S,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,149883227,149883227,C,T,P270959_S,SV2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SV2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150256353,150256353,C,T,P270959_S,CIART,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIART,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150478221,150478221,T,C,P270959_S,TARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150483773,150483773,A,G,P270959_S,ECM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154543627,154543627,C,T,P270959_S,CHRNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155291460,155291460,C,T,P270959_S,RUSC1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RUSC1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156035583,156035583,C,T,P270959_S,RAB25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156761664,156761664,A,C,P270959_S,PRCC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161143586,161143586,G,A,P270959_S,B4GALT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,162550944,162550944,G,A,P270959_S,UAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,164559746,164559746,G,A,P270959_S,PBX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PBX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,166987035,166987035,T,C,P270959_S,MAEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169101990,169101990,T,C,P270959_S,NME7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NME7,NM_197972:c.*33A>G;NM_013330:c.*33A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169256700,169256700,C,T,P270959_S,NME7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176905240,176905240,C,T,P270959_S,ASTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,180031291,180031291,T,A,P270959_S,CEP350,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP350,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181693427,181693427,C,A,P270959_S,CACNA1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182517729,182517729,G,A,P270959_S,RGSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182844447,182844447,C,T,P270959_S,DHX9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183206390,183206390,C,T,P270959_S,LAMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,190250683,190250683,G,A,P270959_S,BRINP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRINP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,192989543,192989543,A,C,P270959_S,UCHL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCHL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,193181636,193181636,G,A,P270959_S,CDC73,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC73,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196274363,196274363,C,T,P270959_S,KCNT2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KCNT2,NM_198503:exon22:c.2595+1G>A;NM_001287819:exon21:c.2523+1G>A;NM_001287820:exon20:c.2373+1G>A,NA,NA,.,.,D,.,.,.
chr1,201183973,201183973,C,T,P270959_S,IGFN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGFN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204131120,204131120,G,T,P270959_S,REN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204951167,204951167,G,A,P270959_S,NFASC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFASC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204953461,204953461,G,A,P270959_S,NFASC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFASC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207780567,207780567,G,A,P270959_S,CR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,213434861,213434861,C,T,P270959_S,RPS6KC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225601711,225601711,G,A,P270959_S,LBR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LBR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227081671,227081671,G,A,P270959_S,PSEN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSEN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227165359,227165359,T,C,P270959_S,COQ8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227169650,227169650,G,A,P270959_S,COQ8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227921398,227921398,C,T,P270959_S,JMJD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JMJD4;SNAP47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228329250,228329250,C,T,P270959_S,GUK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228556333,228556333,G,A,P270959_S,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228557805,228557805,C,T,P270959_S,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,233091964,233091964,G,A,P270959_S,NTPCR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTPCR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235968970,235968970,T,A,P270959_S,LYST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LYST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237780578,237780578,T,A,P270959_S,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237924382,237924382,G,A,P270959_S,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,240343459,240343459,A,G,P270959_S,FMN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,249120623,249120623,C,A,P270959_S,MIR3124,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR3124,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1653472,1653472,G,A,P270959_S,PXDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3197761,3197761,C,T,P270959_S,EIPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11731409,11731409,C,T,P270959_S,GREB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GREB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,21247745,21247745,C,T,P270959_S,APOB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOB,NA,NA,NA,T,.,N,T,N,T
chr2,26176987,26176987,G,A,P270959_S,KIF3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26452980,26452980,C,T,P270959_S,HADHA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HADHA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27566526,27566526,C,T,P270959_S,GTF3C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,29444043,29444043,C,T,P270959_S,ALK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32690121,32690121,T,C,P270959_S,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32710839,32710839,A,G,P270959_S,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38818844,38818844,G,A,P270959_S,HNRNPLL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPLL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44527070,44527070,G,A,P270959_S,SLC3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,47233721,47233721,C,T,P270959_S,TTC7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,47747992,47747992,C,T,P270959_S,KCNK12,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KCNK12,NM_022055:c.*54G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,53921222,53921222,C,T,P270959_S,ASB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB3;GPR75-ASB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,56103922,56103922,T,C,P270959_S,EFEMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFEMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,64192967,64192967,A,G,P270959_S,VPS54,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,VPS54,NM_001005739:exon6:c.588+2T>C;NM_016516:exon6:c.624+2T>C,NA,NA,.,.,D,.,.,.
chr2,65245531,65245531,C,T,P270959_S,SLC1A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70015341,70015341,C,T,P270959_S,ANXA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71801257,71801257,A,C,P270959_S,DYSF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYSF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,72360074,72360074,G,C,P270959_S,CYP26B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP26B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73851811,73851811,G,A,P270959_S,ALMS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ALMS1;NAT8,dist=14765;dist=16039,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74458536,74458536,C,A,P270959_S,SLC4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74460468,74460468,C,T,P270959_S,SLC4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74653353,74653353,G,A,P270959_S,RTKN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RTKN,NM_001015055:c.*17C>T;NM_001015056:c.*17C>T;NM_033046:c.*17C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74760681,74760681,C,A,P270959_S,HTRA2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HTRA2;LOXL3,NM_013247:c.*569C>A;NM_145074:c.*569C>A;NM_001321728:c.*569C>A;NM_001321727:c.*569C>A;NM_032603:c.*52G>T;NM_001289164:c.*52G>T;NM_001289165:c.*52G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,79312260,79312260,G,A,P270959_S,REG1B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,REG1B,NM_006507:c.*82C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,79314073,79314073,G,A,P270959_S,REG1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REG1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80540536,80540536,C,T,P270959_S,CTNNA2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CTNNA2,NM_001282599:c.-151C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80772937,80772937,G,A,P270959_S,CTNNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86297106,86297106,C,T,P270959_S,POLR1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,87156989,87156989,C,T,P270959_S,RGPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD1;RGPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96686993,96686993,G,T,P270959_S,FAHD2CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAHD2CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,100912040,100912040,T,C,P270959_S,LONRF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LONRF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101023149,101023149,G,A,P270959_S,CHST10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CHST10,NM_004854:c.-12C>T,NA,NA,D,.,N,T,N,T
chr2,103095790,103095790,C,T,P270959_S,SLC9A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,106729271,106729271,G,A,P270959_S,UXS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UXS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,108499807,108499807,C,T,P270959_S,RGPD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113487091,113487091,G,A,P270959_S,NT5DC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5DC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114398929,114398929,G,A,P270959_S,RABL2A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RABL2A,NM_001354417:exon7:c.410-1G>A;NM_001354425:exon7:c.155-1G>A;NM_001354426:exon7:c.155-1G>A;NM_001354418:exon5:c.218-1G>A;NM_001354414:exon8:c.410-1G>A;NM_001354413:exon8:c.410-1G>A;NM_001354412:exon7:c.410-1G>A;NM_001354423:exon6:c.218-1G>A;NM_001354421:exon5:c.218-1G>A;NM_001306158:exon7:c.410-1G>A;NM_001306161:exon5:c.218-1G>A;NM_001354419:exon5:c.218-1G>A;NM_001306159:exon7:c.410-1G>A;NM_001354427:exon6:c.134-1G>A;NM_001354409:exon8:c.410-1G>A;NM_001354407:exon7:c.410-1G>A;NM_001354408:exon8:c.410-1G>A;NM_001354405:exon8:c.410-1G>A;NM_001354406:exon7:c.410-1G>A,NA,NA,.,.,D,.,.,.
chr2,121223521,121223521,C,T,P270959_S,LINC01101,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01101,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128392050,128392050,G,A,P270959_S,MYO7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128757531,128757531,C,T,P270959_S,SAP130,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAP130,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,132263979,132263979,G,A,P270959_S,LOC150776,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC150776,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136466922,136466922,C,T,P270959_S,R3HDM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,R3HDM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,144714961,144714961,G,A,P270959_S,LOC101928386,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928386,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171811407,171811407,G,A,P270959_S,GORASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GORASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,172314759,172314759,A,G,P270959_S,DCAF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179528740,179528740,A,G,P270959_S,TTN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TTN,NM_001267550:exon169:c.36364+2T>C,NA,NA,.,.,D,.,.,.
chr2,192550516,192550516,T,C,P270959_S,NABP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NABP1,NM_001254736:c.*22T>C;NM_001031716:c.*22T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197854263,197854263,C,T,P270959_S,ANKRD44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANKRD44,NM_001367495:c.*1141G>A;NM_001367497:c.*1141G>A;NM_001195144:c.*52G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203630559,203630559,G,A,P270959_S,FAM117B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FAM117B,NM_173511:c.*72G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206659783,206659783,C,T,P270959_S,NRP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NRP2,NM_201266:c.*1C>T;NM_201279:c.*1C>T;NM_003872:c.*1C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,211518742,211518742,G,A,P270959_S,CPS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,212569994,212569994,A,T,P270959_S,ERBB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERBB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,216213992,216213992,C,T,P270959_S,ATIC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATIC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217057484,217057484,T,A,P270959_S,XRCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217070001,217070001,C,T,P270959_S,XRCC5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,XRCC5,NM_021141:c.*76C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217148247,217148247,G,A,P270959_S,MARCHF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,218784910,218784910,T,C,P270959_S,TNS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219566519,219566519,C,T,P270959_S,STK36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220011540,220011540,G,T,P270959_S,NHEJ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NHEJ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220356796,220356796,G,A,P270959_S,SPEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,227773507,227773507,C,T,P270959_S,RHBDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,229034899,229034899,G,A,P270959_S,SPHKAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPHKAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231624713,231624713,C,T,P270959_S,CAB39,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CAB39,NM_016289:c.-4C>T;NM_001130850:c.-4C>T;NM_001130849:c.-4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,240016569,240016569,C,T,P270959_S,HDAC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241405816,241405816,G,A,P270959_S,GPC1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPC1,NM_002081:c.*109G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241448719,241448719,C,T,P270959_S,ANKMY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKMY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241535199,241535199,A,G,P270959_S,CAPN10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241685430,241685430,C,A,P270959_S,KIF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241700856,241700856,G,A,P270959_S,KIF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,4718273,4718273,C,T,P270959_S,ITPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,5236987,5236987,A,T,P270959_S,EDEM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDEM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9514889,9514889,G,A,P270959_S,SETD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9747129,9747129,G,A,P270959_S,CPNE9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9958967,9958967,C,T,P270959_S,IL17RC,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,IL17RC,NM_001203264:c.-33C>T;NM_153460:c.-33C>T;NM_001367279:c.-33C>T;NM_001367278:c.-33C>T;NM_153461:c.-33C>T;NM_001203263:c.-33C>T;NM_001203265:c.-33C>T;NM_032732:c.-33C>T;NM_001367280:c.-33C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15345914,15345914,C,T,P270959_S,SH3BP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3BP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,25622215,25622215,T,C,P270959_S,RARB,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RARB,NM_001290216:exon8:c.807+2T>C;NM_001290300:exon5:c.657+2T>C;NM_016152:exon5:c.450+2T>C;NM_001290277:exon5:c.786+2T>C;NM_001290276:exon5:c.450+2T>C;NM_000965:exon5:c.786+2T>C;NM_001290266:exon5:c.639+2T>C;NM_001290217:exon5:c.450+2T>C,NA,NA,.,.,D,.,.,.
chr3,35834123,35834123,C,T,P270959_S,ARPP21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARPP21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42595082,42595082,G,A,P270959_S,SEC22C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC22C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44915919,44915919,G,A,P270959_S,TGM4,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TGM4,dist=181,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45773712,45773712,G,A,P270959_S,SACM1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SACM1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46722559,46722559,C,T,P270959_S,ALS2CL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALS2CL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46785588,46785588,C,T,P270959_S,PRSS45P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRSS45P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48454454,48454454,C,T,P270959_S,PLXNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48616911,48616911,A,G,P270959_S,COL7A1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,COL7A1,NM_000094:exon59:c.5271+2T>C,NA,NA,.,.,D,.,.,.
chr3,49048904,49048904,C,T,P270959_S,WDR6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,WDR6,NM_001320546:c.-142C>T,NA,NA,T,.,N,T,N,T
chr3,49712942,49712942,G,A,P270959_S,APEH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APEH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49718286,49718286,G,A,P270959_S,APEH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APEH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50085472,50085472,C,T,P270959_S,RBM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50144367,50144367,C,T,P270959_S,RBM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51264707,51264707,C,T,P270959_S,DOCK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52183826,52183826,A,G,P270959_S,POC1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POC1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52263670,52263670,C,T,P270959_S,TWF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TWF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52504660,52504660,C,A,P270959_S,NISCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NISCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52556322,52556322,G,A,P270959_S,STAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57323025,57323025,C,T,P270959_S,ASB14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,62431542,62431542,A,G,P270959_S,CADPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,64004953,64004953,T,A,P270959_S,PSMD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,64644144,64644144,A,C,P270959_S,ADAMTS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65479171,65479171,C,T,P270959_S,MAGI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,69026963,69026963,G,A,P270959_S,EOGT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EOGT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,102195822,102195822,A,G,P270959_S,ZPLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZPLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111887679,111887679,A,G,P270959_S,SLC9C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,112997693,112997693,C,T,P270959_S,BOC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BOC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113442255,113442255,C,A,P270959_S,NAA50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119434367,119434367,C,A,P270959_S,MAATS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAATS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124896827,124896827,C,T,P270959_S,SLC12A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125877492,125877492,G,T,P270959_S,ALDH1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126184964,126184964,G,T,P270959_S,ZXDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZXDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126216888,126216888,C,T,P270959_S,UROC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UROC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126733496,126733496,C,T,P270959_S,PLXNA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127434602,127434602,C,T,P270959_S,MGLL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGLL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128292377,128292377,C,T,P270959_S,LINC01565,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01565,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,129200290,129200290,C,T,P270959_S,IFT122,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT122,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,133667624,133667624,C,A,P270959_S,SLCO2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138192707,138192707,C,T,P270959_S,ESYT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESYT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139108315,139108315,G,A,P270959_S,COPB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141905124,141905124,G,A,P270959_S,GK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142516806,142516806,C,T,P270959_S,TRPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142739602,142739602,C,T,P270959_S,U2SURP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,U2SURP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,146246666,146246666,A,G,P270959_S,PLSCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,152175731,152175731,G,T,P270959_S,MBNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160141474,160141474,T,C,P270959_S,TRIM59-IFT80,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRIM59-IFT80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170150555,170150555,C,T,P270959_S,CLDN11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CLDN11,NM_005602:c.*11C>T;NM_001185056:c.*11C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184947035,184947035,C,T,P270959_S,EHHADH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHHADH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,193386208,193386208,C,T,P270959_S,OPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194877173,194877173,C,T,P270959_S,XXYLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XXYLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196120518,196120518,A,T,P270959_S,UBXN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBXN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1989878,1989878,G,A,P270959_S,NELFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NELFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3011518,3011518,G,A,P270959_S,GRK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4427069,4427069,C,T,P270959_S,STX18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STX18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,7715899,7715899,C,T,P270959_S,SORCS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORCS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,8307868,8307868,C,T,P270959_S,HTRA3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HTRA3,NM_053044:c.*5C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,8390826,8390826,G,A,P270959_S,ACOX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,9922344,9922344,C,T,P270959_S,SLC2A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,13590448,13590448,T,C,P270959_S,BOD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BOD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,15994018,15994018,C,T,P270959_S,PROM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25673139,25673139,G,A,P270959_S,SLC34A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC34A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25848907,25848907,A,G,P270959_S,SEL1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEL1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,38119643,38119643,T,C,P270959_S,TBC1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,40045621,40045621,C,T,P270959_S,LOC344967,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC344967,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42072820,42072820,C,T,P270959_S,SLC30A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC30A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42446353,42446353,T,C,P270959_S,ATP8A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,53822163,53822163,G,A,P270959_S,SCFD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCFD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55974201,55974201,A,G,P270959_S,KDR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74365007,74365007,T,A,P270959_S,AFM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76517148,76517148,A,G,P270959_S,CDKL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79285279,79285279,C,T,P270959_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79350218,79350218,C,G,P270959_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,88767603,88767603,C,T,P270959_S,MEPE,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MEPE,NM_001184694:c.*5C>T;NM_001184696:c.*5C>T;NM_001184695:c.*5C>T;NM_020203:c.*5C>T;NM_001184697:c.*5C>T;NM_001291183:c.*5C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100231634,100231634,T,G,P270959_S,ADH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,104082445,104082445,C,A,P270959_S,CENPE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,108820864,108820864,C,T,P270959_S,LOC101929595,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929595,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,109773534,109773534,G,A,P270959_S,COL25A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL25A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,110681559,110681559,G,T,P270959_S,CFI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114302900,114302900,G,A,P270959_S,ANK2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANK2,NM_001354269:c.*273G>A;NM_001354266:c.*273G>A;NM_001354276:c.*273G>A;NM_001354272:c.*273G>A;NM_001354244:c.*273G>A;NM_001354262:c.*273G>A;NM_001354255:c.*273G>A;NM_001354260:c.*273G>A;NM_001354277:c.*273G>A;NM_001354257:c.*273G>A;NM_001127493:c.*273G>A;NM_001354243:c.*273G>A;NM_001354274:c.*273G>A;NM_001354252:c.*273G>A;NM_001354239:c.*273G>A;NM_001354253:c.*273G>A;NM_001354256:c.*273G>A;NM_001354254:c.*273G>A;NM_001354275:c.*273G>A;NM_001354270:c.*273G>A;NM_001354249:c.*273G>A;NM_001354261:c.*273G>A;NM_001354271:c.*273G>A;NM_001354264:c.*273G>A;NM_001354267:c.*273G>A;NM_001354245:c.*273G>A;NM_001354258:c.*273G>A;NM_001354236:c.*273G>A;NM_001354232:c.*273G>A;NM_001354228:c.*273G>A;NM_001354225:c.*273G>A;NM_001354268:c.*273G>A;NM_020977:c.*273G>A;NM_001354273:c.*273G>A;NM_001354246:c.*273G>A;NM_001354241:c.*273G>A;NM_001354235:c.*273G>A;NM_001354265:c.*273G>A;NM_001148:c.*273G>A;NM_001354237:c.*273G>A;NM_001354231:c.*273G>A;NM_001354230:c.*273G>A;NM_001354242:c.*273G>A;NM_001354240:c.*273G>A;NM_001354278:c.*273G>A;NM_001354281:c.*273G>A;NM_001354279:c.*273G>A;NM_001354280:c.*273G>A;NM_001354282:c.*273G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119475419,119475419,T,C,P270959_S,CEP170P1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,CEP170P1,dist=60,NA,NA,NA,NA,NA,NA,NA,NA
chr4,139482969,139482969,G,A,P270959_S,LINC00499,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00499;LOC105377448,dist=137471;dist=258142,NA,NA,NA,NA,NA,NA,NA,NA
chr4,140432765,140432765,T,C,P270959_S,SETD7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SETD7,NM_030648:c.*52A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr4,153692282,153692282,T,C,P270959_S,TIGD4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TIGD4,NM_145720:c.-126A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr4,156725700,156725700,G,A,P270959_S,GUCY1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,162841833,162841833,G,A,P270959_S,FSTL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSTL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166200849,166200849,C,T,P270959_S,GK3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GK3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,306710,306710,G,T,P270959_S,AHRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHRR;PDCD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1088412,1088412,A,G,P270959_S,SLC12A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1214188,1214188,C,T,P270959_S,SLC6A19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,26903567,26903567,T,C,P270959_S,CDH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34864757,34864757,A,C,P270959_S,TTC23L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC23L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35670155,35670155,C,T,P270959_S,SPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36677320,36677320,C,T,P270959_S,SLC1A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,52243131,52243131,A,G,P270959_S,ITGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54320764,54320764,C,T,P270959_S,GZMK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GZMK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,64867641,64867641,C,T,P270959_S,PPWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,66462926,66462926,C,T,P270959_S,MAST4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAST4,NM_001164664:c.*47C>T;NM_015183:c.*47C>T;NM_001290226:c.*47C>T;NM_001290227:c.*47C>T;NM_001297651:c.*47C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75594576,75594576,A,G,P270959_S,SV2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SV2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76171006,76171006,G,A,P270959_S,S100Z,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,S100Z,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79430909,79430909,A,G,P270959_S,SERINC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80744654,80744654,G,A,P270959_S,SSBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,92929636,92929636,G,C,P270959_S,NR2F1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NR2F1,NM_005654:c.*88G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr5,108516779,108516779,A,G,P270959_S,FER,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FER,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,109220602,109220602,C,T,P270959_S,LINC01848,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01848,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,115297980,115297980,C,A,P270959_S,LVRN,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LVRN,dist=192,NA,NA,NA,NA,NA,NA,NA,NA
chr5,126770337,126770337,G,A,P270959_S,MEGF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127644788,127644788,A,T,P270959_S,FBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140806884,140806884,G,A,P270959_S,PCDHGB8P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PCDHGB8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,142513696,142513696,C,T,P270959_S,ARHGAP26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148521623,148521623,C,T,P270959_S,ABLIM3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABLIM3,NM_001301018:c.-36C>T;NM_001345858:c.-36C>T;NM_001345859:c.-36C>T;NM_001345860:c.-36C>T;NM_014945:c.-36C>T;NM_001301015:c.-36C>T;NM_001301028:c.-36C>T;NM_001345861:c.-36C>T;NM_001370417:c.-36C>T;NM_001370418:c.-36C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150073855,150073855,C,A,P270959_S,RBM22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150507741,150507741,C,T,P270959_S,ANXA6,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ANXA6,NM_001363114:exon13:c.977+1G>A;NM_001155:exon13:c.977+1G>A;NM_001193544:exon12:c.881+1G>A,NA,NA,.,.,D,.,.,.
chr5,151051055,151051055,G,A,P270959_S,SPARC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPARC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,154311899,154311899,G,A,P270959_S,GEMIN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEMIN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156675821,156675821,C,T,P270959_S,ITK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156940572,156940572,C,T,P270959_S,ADAM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,159626335,159626335,A,T,P270959_S,FABP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FABP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,161322893,161322893,A,G,P270959_S,GABRA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167689831,167689831,C,T,P270959_S,TENM2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TENM2,NM_001122679:c.*16C>T;NM_001368146:c.*16C>T;NM_001368145:c.*16C>T;NM_001080428:c.*16C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167837024,167837024,G,A,P270959_S,WWC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167915540,167915540,G,A,P270959_S,RARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176053702,176053702,G,A,P270959_S,SNCB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNCB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177574711,177574711,G,A,P270959_S,RMND5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RMND5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178369697,178369697,A,G,P270959_S,ZNF454,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF454,NM_001323308:c.-96A>G;NM_001323309:c.-96A>G;NM_001323310:c.-96A>G;NM_001178089:c.-96A>G;NM_001178090:c.-96A>G;NM_182594:c.-96A>G;NM_001323307:c.-96A>G;NM_001323306:c.-96A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178402041,178402041,C,T,P270959_S,ZNF454,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF454;GRM6,dist=8607;dist=3289,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179542320,179542320,T,C,P270959_S,RASGEF1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGEF1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179755412,179755412,G,A,P270959_S,GFPT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFPT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,576630,576630,G,A,P270959_S,EXOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,5030191,5030191,G,A,P270959_S,LYRM4-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LYRM4-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,7986876,7986876,C,T,P270959_S,PIP5K1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIP5K1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13160319,13160319,A,G,P270959_S,PHACTR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHACTR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13792265,13792265,G,A,P270959_S,MCUR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCUR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,25557150,25557150,A,T,P270959_S,CARMIL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARMIL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33560713,33560713,C,T,P270959_S,LINC00336,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00336,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36884439,36884439,G,A,P270959_S,C6orf89,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C6orf89,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43106752,43106752,C,T,P270959_S,PTK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43160967,43160967,G,A,P270959_S,CUL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56329527,56329527,C,T,P270959_S,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,D,D,.,T,N,T
chr6,64288976,64288976,A,G,P270959_S,PTP4A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTP4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,80020600,80020600,G,A,P270959_S,LCAL1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LCAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,82461188,82461188,C,T,P270959_S,TENT5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENT5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,83881569,83881569,A,T,P270959_S,PGM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109583305,109583305,G,A,P270959_S,CCDC162P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCDC162P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,142736090,142736090,G,A,P270959_S,ADGRG6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,157505578,157505578,C,T,P270959_S,ARID1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID1B,NA,NA,NA,T,.,N,T,N,T
chr6,159010652,159010652,G,A,P270959_S,TMEM181,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM181,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160189700,160189700,G,T,P270959_S,ACAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2041777,2041777,C,T,P270959_S,MAD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4055191,4055191,G,A,P270959_S,SDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4245449,4245449,C,T,P270959_S,SDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4828689,4828689,G,A,P270959_S,AP5Z1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP5Z1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5541666,5541666,C,T,P270959_S,FBXL18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6370804,6370804,C,T,P270959_S,FAM220A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM220A,NM_001037163:c.-19G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6682712,6682712,G,A,P270959_S,ZNF316,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF316,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21775522,21775522,T,C,P270959_S,DNAH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22539724,22539724,G,T,P270959_S,STEAP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STEAP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22999755,22999755,T,C,P270959_S,FAM126A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM126A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,24331061,24331061,C,T,P270959_S,NPY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,36124471,36124471,G,A,P270959_S,SEPTIN7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SEPTIN7;LOC101928618,dist=177751;dist=10449,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44270676,44270676,G,A,P270959_S,CAMK2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44838938,44838938,G,A,P270959_S,PPIA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45724482,45724482,G,T,P270959_S,ADCY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63033967,63033967,C,A,P270959_S,LOC100287834,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100287834;MIR4283-1,dist=174548;dist=47501,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72683350,72683350,G,A,P270959_S,NCF1B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NCF1B;NSUN5,dist=33371;dist=33163,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73107152,73107152,C,T,P270959_S,BUD23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BUD23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73460971,73460971,C,T,P270959_S,ELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73480233,73480233,G,A,P270959_S,ELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,74009454,74009454,C,T,P270959_S,GTF2IRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2IRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75174308,75174308,T,C,P270959_S,HIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75511117,75511117,G,A,P270959_S,RHBDD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,78636542,78636542,C,A,P270959_S,MAGI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,96303133,96303133,G,A,P270959_S,SEM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEM1,NA,NA,NA,D,.,N,T,N,T
chr7,97619345,97619345,G,A,P270959_S,OCM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OCM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,97946455,97946455,G,A,P270959_S,BAIAP2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98493539,98493539,G,T,P270959_S,TRRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99040814,99040814,C,T,P270959_S,ATP5MF-PTCD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5MF-PTCD1;CPSF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99104167,99104167,C,T,P270959_S,ZKSCAN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZKSCAN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99160507,99160507,T,C,P270959_S,ZNF655,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF655,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99703851,99703851,G,A,P270959_S,AP4M1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP4M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,101187211,101187211,C,T,P270959_S,COL26A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL26A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105516370,105516370,G,A,P270959_S,ATXN7L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN7L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105913128,105913128,T,C,P270959_S,NAMPT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAMPT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111377162,111377162,A,G,P270959_S,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111580426,111580426,C,T,P270959_S,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,114284956,114284956,T,C,P270959_S,FOXP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,120969243,120969243,C,T,P270959_S,WNT16,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,WNT16,NM_057168:c.-104C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123599497,123599497,T,C,P270959_S,SPAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127637779,127637779,G,A,P270959_S,SND1-IT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SND1-IT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128034729,128034729,C,T,P270959_S,IMPDH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMPDH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128493962,128493962,C,T,P270959_S,FLNC-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FLNC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129122964,129122964,T,G,P270959_S,STRIP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STRIP2,NM_001134336:c.*54T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130003145,130003145,C,A,P270959_S,CPA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137256177,137256177,A,G,P270959_S,DGKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137641496,137641496,G,A,P270959_S,CREB3L2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CREB3L2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141796087,141796087,G,A,P270959_S,MGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142625973,142625973,G,A,P270959_S,TRPV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143979719,143979719,G,A,P270959_S,ARHGEF34P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ARHGEF34P;LOC101928605;OR2A1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148143175,148143175,C,T,P270959_S,CNTNAP2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CNTNAP2;C7orf33,dist=25087;dist=144683,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149473593,149473593,C,T,P270959_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,149521713,149521713,G,A,P270959_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,151433193,151433193,G,A,P270959_S,PRKAG2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PRKAG2,NM_001304527:c.-114C>T;NM_001363698:c.-114C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155404169,155404169,C,T,P270959_S,CNPY1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CNPY1;LOC100506302,dist=40728;dist=30441,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157370882,157370882,G,A,P270959_S,PTPRN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6479277,6479277,G,A,P270959_S,MCPH1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MCPH1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11687937,11687937,A,G,P270959_S,FDFT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FDFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11839823,11839823,G,A,P270959_S,DEFB135,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DEFB135,dist=7,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17090107,17090107,A,C,P270959_S,CNOT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21563809,21563809,A,G,P270959_S,GFRA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFRA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22161810,22161810,T,C,P270959_S,PIWIL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIWIL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22432289,22432289,G,A,P270959_S,SORBS3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SORBS3,NM_005775:c.*48G>A;NM_001018003:c.*48G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,23105605,23105605,G,A,P270959_S,CHMP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHMP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25291043,25291043,A,G,P270959_S,KCTD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCTD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27099840,27099840,C,T,P270959_S,STMN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STMN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27380188,27380188,G,T,P270959_S,EPHX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27380189,27380189,G,A,P270959_S,EPHX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27957311,27957311,G,A,P270959_S,ELP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,35581960,35581960,C,T,P270959_S,UNC5D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39089725,39089725,G,A,P270959_S,ADAM32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41556870,41556870,C,T,P270959_S,ANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42259653,42259653,C,T,P270959_S,VDAC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VDAC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42317627,42317627,G,A,P270959_S,SLC20A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC20A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48743148,48743148,G,A,P270959_S,PRKDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,53028766,53028766,C,A,P270959_S,ST18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,55060286,55060286,G,A,P270959_S,MRPL15,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MRPL15,NM_014175:c.*7G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,64321749,64321749,T,C,P270959_S,YTHDF3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,YTHDF3;LOC102724612,dist=196403;dist=56658,NA,NA,NA,NA,NA,NA,NA,NA
chr8,69730488,69730488,G,C,P270959_S,C8orf34,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C8orf34,NM_001349476:c.*7G>C;NM_001349477:c.*7G>C;NM_001349478:c.*7G>C;NM_001349479:c.*7G>C;NM_052958:c.*7G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr8,72137648,72137648,C,T,P270959_S,EYA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,72932195,72932195,A,G,P270959_S,MSC-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MSC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86162204,86162204,G,A,P270959_S,CA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,93029403,93029403,T,A,P270959_S,RUNX1T1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNX1T1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,99961874,99961874,C,T,P270959_S,OSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100443698,100443698,C,T,P270959_S,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,102701732,102701732,C,A,P270959_S,NCALD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCALD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,107593382,107593382,G,A,P270959_S,OXR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,113484950,113484950,G,A,P270959_S,CSMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120795969,120795969,C,A,P270959_S,TAF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121211948,121211948,T,C,P270959_S,COL14A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL14A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124450345,124450345,T,C,P270959_S,WDYHV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDYHV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131128907,131128907,C,T,P270959_S,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,134268972,134268972,T,C,P270959_S,NDRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141570463,141570463,C,T,P270959_S,AGO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144063726,144063726,G,A,P270959_S,LY6E-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LY6E-DT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144547717,144547717,C,T,P270959_S,ZC3H3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145162833,145162833,C,T,P270959_S,WDR97,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR97,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145639625,145639625,C,T,P270959_S,SLC39A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145660778,145660778,C,T,P270959_S,TONSL-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TONSL-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,12791,12791,C,T,P270959_S,DDX11L5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DDX11L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,429641,429641,C,T,P270959_S,DOCK8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,2186245,2186245,G,A,P270959_S,SMARCA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,4567863,4567863,G,A,P270959_S,SLC1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,14748266,14748266,G,A,P270959_S,FREM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FREM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,16704662,16704662,T,G,P270959_S,BNC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35382276,35382276,T,G,P270959_S,UNC13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35403687,35403687,G,T,P270959_S,UNC13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35679373,35679373,C,T,P270959_S,CA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,84235750,84235750,G,T,P270959_S,TLE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,84530090,84530090,G,A,P270959_S,SPATA31D5P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SPATA31D5P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86900206,86900206,C,T,P270959_S,SLC28A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC28A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,91660853,91660853,G,A,P270959_S,SHC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,91972203,91972203,C,T,P270959_S,SECISBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SECISBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95991917,95991917,G,A,P270959_S,WNK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,96285377,96285377,C,T,P270959_S,FAM120A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM120A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100071956,100071956,C,T,P270959_S,SUGT1P4-STRA6LP-CCDC180,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SUGT1P4-STRA6LP-CCDC180,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,102068666,102068666,G,A,P270959_S,SEC61B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SEC61B;NAMA,dist=75769;dist=48956,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114187886,114187886,T,A,P270959_S,ECPAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECPAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114694761,114694761,C,T,P270959_S,UGCG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGCG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115642189,115642189,G,A,P270959_S,SLC46A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC46A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,119130228,119130228,C,A,P270959_S,PAPPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123923439,123923439,C,T,P270959_S,CNTRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123937584,123937584,G,A,P270959_S,CNTRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124543844,124543844,C,T,P270959_S,DAB2IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAB2IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125620870,125620870,G,A,P270959_S,RC3H2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RC3H2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130577560,130577560,C,T,P270959_S,ENG,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ENG,NM_001114753:c.*401G>A;NM_000118:c.*636G>A;NM_001278138:c.*401G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130690132,130690132,G,A,P270959_S,PIP5KL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP5KL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130868346,130868346,C,T,P270959_S,SLC25A25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130868563,130868563,G,A,P270959_S,SLC25A25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133226977,133226977,G,A,P270959_S,HMCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133507295,133507295,C,T,P270959_S,FUBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133768700,133768700,G,A,P270959_S,QRFP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,QRFP,NM_198180:c.*115C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135412932,135412932,C,T,P270959_S,CFAP77,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP77,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135776765,135776765,C,A,P270959_S,TSC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136224388,136224388,G,A,P270959_S,SURF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SURF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136245787,136245787,C,A,P270959_S,STKLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STKLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136512909,136512909,G,T,P270959_S,DBH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137702169,137702169,G,A,P270959_S,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139116828,139116828,G,A,P270959_S,QSOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QSOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139639606,139639606,C,T,P270959_S,LCN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140055498,140055498,T,C,P270959_S,GRIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140372729,140372729,G,A,P270959_S,PNPLA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140392470,140392470,C,T,P270959_S,PNPLA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140972747,140972747,T,C,P270959_S,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,3185794,3185794,G,A,P270959_S,PITRM1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PITRM1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,4882054,4882054,G,A,P270959_S,AKR1E2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1E2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6263537,6263537,C,T,P270959_S,PFKFB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKFB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,7290374,7290374,C,T,P270959_S,SFMBT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFMBT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,7679179,7679179,C,T,P270959_S,ITIH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,7697588,7697588,A,G,P270959_S,ITIH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13639549,13639549,C,T,P270959_S,PRPF18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15559275,15559275,G,A,P270959_S,ITGA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,21828005,21828005,T,C,P270959_S,MLLT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLLT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,21828014,21828014,A,G,P270959_S,MLLT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLLT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27149927,27149927,T,A,P270959_S,ABI1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABI1,NM_001348034:c.-135A>T;NM_001178125:c.-135A>T;NM_001178124:c.-135A>T;NM_001348031:c.-135A>T;NM_001348029:c.-135A>T;NM_001348033:c.-135A>T;NM_001348032:c.-135A>T;NM_001178116:c.-135A>T;NM_001178120:c.-135A>T;NM_005470:c.-135A>T;NM_001178123:c.-135A>T;NM_001178122:c.-135A>T;NM_001178121:c.-135A>T;NM_001178119:c.-135A>T;NM_001348030:c.-135A>T;NM_001012752:c.-135A>T;NM_001012751:c.-135A>T;NM_001012750:c.-135A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,29578013,29578013,C,T,P270959_S,LYZL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LYZL1,NM_032517:c.-2784C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,34408532,34408532,T,C,P270959_S,PARD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,34625262,34625262,C,T,P270959_S,PARD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,46967767,46967767,G,A,P270959_S,LOC102724488,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC102724488;SYT15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,62646049,62646049,C,A,P270959_S,RHOBTB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOBTB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,67680460,67680460,C,T,P270959_S,CTNNA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,72645519,72645519,C,T,P270959_S,PCBD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCBD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,74653378,74653378,G,A,P270959_S,OIT3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OIT3,dist=119,NA,NA,NA,NA,NA,NA,NA,NA
chr10,81923801,81923801,G,A,P270959_S,ANXA11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,86007159,86007159,T,C,P270959_S,RGR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,89475423,89475423,C,T,P270959_S,PAPSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95720289,95720289,T,G,P270959_S,PIPSL,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIPSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96081906,96081906,T,C,P270959_S,PLCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99502776,99502776,G,A,P270959_S,ZFYVE27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFYVE27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,100011074,100011074,C,A,P270959_S,LOXL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOXL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,100148072,100148072,G,A,P270959_S,PYROXD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYROXD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102771809,102771809,G,A,P270959_S,PDZD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDZD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103869635,103869635,G,A,P270959_S,LDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104359012,104359012,G,A,P270959_S,SUFU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUFU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104557948,104557948,C,A,P270959_S,WBP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WBP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,112696707,112696707,G,A,P270959_S,RPL13AP6,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RPL13AP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114912396,114912396,T,A,P270959_S,TCF7L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF7L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,116032421,116032421,C,T,P270959_S,VWA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,121612707,121612707,G,A,P270959_S,MCMBP,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MCMBP,NM_024834:exon6:c.430-1C>T;NM_001256378:exon6:c.430-1C>T,NA,NA,.,.,D,.,.,.
chr10,123311011,123311011,A,G,P270959_S,FGFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123974886,123974886,G,A,P270959_S,TACC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TACC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134004137,134004137,G,A,P270959_S,DPYSL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPYSL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134018204,134018204,C,T,P270959_S,DPYSL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPYSL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134741065,134741065,G,A,P270959_S,CFAP46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134894024,134894024,C,T,P270959_S,LINC01168,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01168;ADGRA1-AS1,dist=104023;dist=4729,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135020891,135020891,C,T,P270959_S,KNDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135110982,135110982,C,T,P270959_S,TUBGCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBGCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135123502,135123502,C,T,P270959_S,ZNF511,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF511,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135213168,135213168,G,A,P270959_S,MTG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,309353,309353,G,A,P270959_S,IFITM2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IFITM2,NM_006435:c.*188G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,380281,380281,G,A,P270959_S,B4GALNT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALNT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,621945,621945,C,T,P270959_S,CDHR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,709386,709386,G,A,P270959_S,EPS8L2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EPS8L2,NM_022772:c.-22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,985618,985618,G,A,P270959_S,AP2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1103790,1103790,C,T,P270959_S,MUC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1957395,1957395,C,T,P270959_S,TNNT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2418157,2418157,C,T,P270959_S,CD81,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CD81,NM_001297649:c.*61C>T;NM_004356:c.*61C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3832767,3832767,C,T,P270959_S,PGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4731185,4731185,T,C,P270959_S,OR51E2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR51E2;OR51F1,dist=12102;dist=59024,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7439149,7439149,G,A,P270959_S,SYT9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8693751,8693751,C,T,P270959_S,TRIM66,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM66;RPL27A,dist=13368;dist=10588,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9225023,9225023,A,C,P270959_S,DENND5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,16208302,16208302,T,A,P270959_S,SOX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17339144,17339144,G,A,P270959_S,NUCB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUCB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18523921,18523921,T,G,P270959_S,TSG101,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSG101,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,19954616,19954616,G,A,P270959_S,NAV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22363343,22363343,C,T,P270959_S,SLC17A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,44609181,44609181,G,A,P270959_S,CD82,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD82,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47399813,47399813,C,T,P270959_S,SPI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47504427,47504427,G,A,P270959_S,CELF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49426915,49426915,C,T,P270959_S,FOLH1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FOLH1;LOC440040,dist=196761;dist=153165,NA,NA,NA,NA,NA,NA,NA,NA
chr11,56570142,56570142,C,T,P270959_S,MIR6128,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR6128;LINC02735,dist=58685;dist=45812,NA,NA,NA,NA,NA,NA,NA,NA
chr11,58392055,58392055,G,T,P270959_S,ZFP91-CNTF,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ZFP91-CNTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59947537,59947537,C,T,P270959_S,MS4A6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60504576,60504576,A,G,P270959_S,MS4A18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60615597,60615597,C,T,P270959_S,CCDC86,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC86,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60890609,60890609,G,A,P270959_S,CD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62040366,62040366,C,T,P270959_S,SCGB2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCGB2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62400425,62400425,C,T,P270959_S,GANAB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GANAB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65147468,65147468,C,A,P270959_S,SLC25A45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65637534,65637534,G,A,P270959_S,EFEMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFEMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65803138,65803138,G,A,P270959_S,CATSPER1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CATSPER1;GAL3ST3,dist=9188;dist=5098,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66033509,66033509,G,A,P270959_S,KLC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66051021,66051021,A,G,P270959_S,CNIH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNIH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68125328,68125328,G,A,P270959_S,LRP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71149008,71149008,C,T,P270959_S,DHCR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHCR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71184516,71184516,G,A,P270959_S,NADSYN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NADSYN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71627356,71627356,A,T,P270959_S,LOC100133315,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100133315,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71928463,71928463,C,T,P270959_S,FOLR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLR2,NA,NA,NA,D,.,N,T,N,T
chr11,72540184,72540184,G,A,P270959_S,ATG16L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG16L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73075373,73075373,A,G,P270959_S,ARHGEF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76834615,76834615,C,T,P270959_S,CAPN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77639645,77639645,C,T,P270959_S,INTS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,78277151,78277151,G,A,P270959_S,NARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,86568943,86568943,C,T,P270959_S,OR7E2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR7E2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89868717,89868717,T,C,P270959_S,NAALAD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAALAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102487489,102487489,A,G,P270959_S,MMP20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111745527,111745527,C,T,P270959_S,FDXACB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FDXACB1,NM_138378:c.*119G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,114315123,114315123,G,A,P270959_S,REXO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REXO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117153073,117153073,G,A,P270959_S,RNF214,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF214,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118532741,118532741,C,T,P270959_S,TREH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TREH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119181198,119181198,A,C,P270959_S,MCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121420850,121420850,C,T,P270959_S,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,122733078,122733078,G,A,P270959_S,CRTAM,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CRTAM,NM_001304782:c.-39G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126143424,126143424,C,T,P270959_S,FOXRED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXRED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126283596,126283596,T,C,P270959_S,ST3GAL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST3GAL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134147986,134147986,C,A,P270959_S,GLB1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,432396,432396,A,G,P270959_S,KDM5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1950197,1950197,C,A,P270959_S,CACNA2D4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2777999,2777999,C,T,P270959_S,CACNA1C-AS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CACNA1C-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3390995,3390995,G,A,P270959_S,TSPAN9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3650111,3650111,C,G,P270959_S,PRMT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,5853601,5853601,A,G,P270959_S,ANO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6438471,6438471,C,T,P270959_S,TNFRSF1A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNFRSF1A,NM_001065:c.*7G>A;NM_001346092:c.*7G>A;NM_001346091:c.*7G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7026600,7026600,G,A,P270959_S,ENO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7175694,7175694,G,A,P270959_S,C1S,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1S,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8687191,8687191,C,T,P270959_S,CLEC4E,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CLEC4E,NM_014358:c.*43G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8995999,8995999,G,A,P270959_S,A2ML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,A2ML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9016709,9016709,G,T,P270959_S,A2ML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,A2ML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9222990,9222990,A,C,P270959_S,A2M,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,A2M,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9463773,9463773,G,A,P270959_S,LOC642846,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC642846,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,14928560,14928560,G,A,P270959_S,H2AFJ,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,H2AFJ,NM_177925:c.*766G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21680127,21680127,G,A,P270959_S,SPX,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SPX,NM_030572:exon3:c.145+1G>A,NA,NA,.,.,D,.,.,.
chr12,26864041,26864041,A,G,P270959_S,ITPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27648465,27648465,C,A,P270959_S,SMCO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMCO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,30881503,30881503,A,G,P270959_S,CAPRIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPRIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31242631,31242631,C,T,P270959_S,DDX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31255793,31255793,C,T,P270959_S,DDX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,39299173,39299173,G,A,P270959_S,CPNE8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46240584,46240584,G,A,P270959_S,ARID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46760626,46760626,G,A,P270959_S,SLC38A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49953970,49953970,C,G,P270959_S,MCRS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCRS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51634633,51634633,C,T,P270959_S,DAZAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAZAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51733628,51733628,C,T,P270959_S,CELA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52881480,52881480,G,A,P270959_S,KRT6A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRT6A,NM_005554:c.*24C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57598547,57598547,G,A,P270959_S,LRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,65226176,65226176,T,C,P270959_S,TBC1D30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,65881855,65881855,T,C,P270959_S,LOC100507065,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100507065,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,73015330,73015330,A,C,P270959_S,TRHDE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRHDE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,89984613,89984613,T,A,P270959_S,ATP2B1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ATP2B1,NM_001366524:c.*148A>T;NM_001366523:c.*434A>T;NM_001366530:c.*447A>T;NM_001366521:c.*148A>T;NM_001366525:c.*148A>T;NM_001682:c.*148A>T;NM_001366526:c.*447A>T;NM_001366528:c.*434A>T;NM_001366529:c.*447A>T;NM_001366531:c.*434A>T;NM_001366520:c.*148A>T;NM_001366527:c.*447A>T;NM_001366522:c.*148A>T;NM_001366532:c.*434A>T;NM_001001323:c.*434A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96076705,96076705,C,T,P270959_S,NTN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96421176,96421176,G,A,P270959_S,LTA4H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTA4H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102133204,102133204,G,A,P270959_S,SYCP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SYCP3,NM_153694:c.-1491C>T;NM_001177948:c.-1491C>T;NM_001177949:c.-1491C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102151542,102151542,G,A,P270959_S,GNPTAB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNPTAB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,103234109,103234109,C,T,P270959_S,PAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104424680,104424680,G,A,P270959_S,GLT8D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLT8D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109273381,109273381,G,A,P270959_S,DAO,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DAO,dist=487,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110824322,110824322,C,A,P270959_S,ANAPC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANAPC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112481112,112481112,C,T,P270959_S,NAA25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113824935,113824935,G,A,P270959_S,PLBD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLBD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113866038,113866038,C,T,P270959_S,SDSL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117155724,117155724,G,A,P270959_S,C12orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117992953,117992953,C,T,P270959_S,KSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120600616,120600616,G,A,P270959_S,GCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121098673,121098673,C,T,P270959_S,CABP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CABP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,125810930,125810930,G,A,P270959_S,TMEM132B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM132B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129411050,129411050,G,A,P270959_S,GLT1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLT1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129558410,129558410,T,C,P270959_S,TMEM132D,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM132D,NM_133448:c.*10A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr12,131488590,131488590,C,T,P270959_S,ADGRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132589453,132589453,C,T,P270959_S,EP400P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,EP400P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132625806,132625806,G,A,P270959_S,DDX51,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX51,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133768059,133768059,G,T,P270959_S,ZNF268,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF268,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24826130,24826130,G,A,P270959_S,SPATA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25264995,25264995,C,T,P270959_S,ATP12A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP12A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,27828173,27828173,T,C,P270959_S,RPL21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,32731607,32731607,C,T,P270959_S,FRY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,43474327,43474327,G,T,P270959_S,EPSTI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPSTI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,97998993,97998993,C,T,P270959_S,MBNL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,98632273,98632273,G,A,P270959_S,IPO5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPO5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99376120,99376120,G,A,P270959_S,SLC15A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC15A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99447429,99447429,C,T,P270959_S,DOCK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,101315642,101315642,A,G,P270959_S,TMTC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMTC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113744418,113744418,C,T,P270959_S,MCF2L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MCF2L,NM_001320817:c.*222C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114438016,114438016,C,T,P270959_S,GRK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114762243,114762243,C,T,P270959_S,RASA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,115037944,115037944,T,C,P270959_S,CDC16,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDC16,NM_001318517:c.*26T>C;NM_001330105:c.*26T>C;NM_003903:c.*26T>C;NM_001078645:c.*26T>C;NM_001318518:c.*26T>C;NM_001330101:c.*26T>C;NM_001330104:c.*26T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23746426,23746426,C,A,P270959_S,HOMEZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOMEZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23939005,23939005,G,A,P270959_S,NGDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NGDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31813082,31813082,G,A,P270959_S,HEATR5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,33684302,33684302,A,G,P270959_S,NPAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35762305,35762305,G,T,P270959_S,PSMA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58758365,58758365,G,A,P270959_S,PSMA3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PSMA3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,61435186,61435186,A,G,P270959_S,MNAT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MNAT1,NM_002431:c.*119A>G;NM_001177963:c.*119A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73637418,73637418,C,T,P270959_S,PSEN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSEN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74192857,74192857,G,A,P270959_S,ELMSAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMSAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76966886,76966886,T,C,P270959_S,ESRRB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESRRB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77935308,77935308,G,A,P270959_S,AHSA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHSA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89038694,89038694,A,T,P270959_S,ZC3H14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91662862,91662862,G,A,P270959_S,DGLUCY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGLUCY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94595060,94595060,A,G,P270959_S,IFI27L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFI27L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100166236,100166236,C,T,P270959_S,CYP46A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP46A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100384044,100384044,G,A,P270959_S,EML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102469127,102469127,A,G,P270959_S,DYNC1H1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DYNC1H1,NM_001376:exon23:c.4710-2A>G,NA,NA,.,.,D,.,.,.
chr14,104151394,104151394,C,T,P270959_S,KLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104167610,104167610,C,T,P270959_S,KLC1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KLC1,NM_001130107:c.*70C>T;NM_182923:c.*74C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104493292,104493292,G,A,P270959_S,TDRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105206207,105206207,G,A,P270959_S,ADSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105457963,105457963,C,T,P270959_S,CLBA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLBA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105821574,105821574,G,A,P270959_S,PACS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106304033,106304033,G,A,P270959_S,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=164889;dist=20260,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106320384,106320384,C,T,P270959_S,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=181240;dist=3909,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106994129,106994129,A,T,P270959_S,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=42600;dist=264971,NA,NA,NA,NA,NA,NA,NA,NA
chr14,107078438,107078438,T,G,P270959_S,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=126909;dist=180662,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20446118,20446118,G,T,P270959_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;CHEK2P2,dist=NONE;dist=41879,NA,NA,NA,NA,NA,NA,NA,NA
chr15,21145762,21145762,G,A,P270959_S,LINC01193,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LINC01193;MIR5701-1;MIR5701-2;MIR5701-3,dist=5;dist=100,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25436826,25436826,G,A,P270959_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,26861307,26861307,C,T,P270959_S,GABRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,27516606,27516606,G,A,P270959_S,GABRG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,28397801,28397801,C,T,P270959_S,HERC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,29091235,29091235,A,G,P270959_S,PDCD6IPP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PDCD6IPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,33876733,33876733,T,G,P270959_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34533280,34533280,G,T,P270959_S,SLC12A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,35261690,35261690,G,A,P270959_S,AQR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AQR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,37402279,37402279,G,A,P270959_S,MEIS2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MEIS2;TMCO5A,dist=8767;dist=824529,NA,NA,NA,NA,NA,NA,NA,NA
chr15,38229541,38229541,T,C,P270959_S,TMCO5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMCO5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,39875777,39875777,C,T,P270959_S,THBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,39888041,39888041,C,T,P270959_S,THBS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,THBS1,NM_003246:c.*471C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41766797,41766797,C,T,P270959_S,RTF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45412547,45412547,G,A,P270959_S,DUOXA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUOXA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52098848,52098848,G,A,P270959_S,TMOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,60970805,60970805,G,A,P270959_S,RORA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RORA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,63014697,63014697,C,T,P270959_S,TLN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,63927190,63927190,C,T,P270959_S,HERC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64419459,64419459,C,T,P270959_S,SNX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65694845,65694845,G,T,P270959_S,IGDCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGDCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66010392,66010392,A,G,P270959_S,DENND4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69560465,69560465,C,T,P270959_S,GLCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69672372,69672372,G,A,P270959_S,PAQR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAQR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74235305,74235305,T,C,P270959_S,LOXL1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LOXL1,NM_005576:exon2:c.1211+2T>C,NA,NA,.,.,D,.,.,.
chr15,79271765,79271765,C,T,P270959_S,LOC100129540,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100129540,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,83230742,83230742,G,A,P270959_S,CPEB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPEB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84700192,84700192,C,T,P270959_S,ADAMTSL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85198357,85198357,G,A,P270959_S,WDR73,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,WDR73;NMB,dist=783;dist=6,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85235023,85235023,C,T,P270959_S,SEC11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,89858411,89858411,T,C,P270959_S,FANCI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,93472393,93472393,G,A,P270959_S,CHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,100339827,100339827,C,T,P270959_S,DNM1P46,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNM1P46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,622559,622559,G,A,P270959_S,PIGQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1115949,1115949,C,T,P270959_S,SSTR5-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSTR5-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2000743,2000743,G,T,P270959_S,RPL3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2093552,2093552,G,A,P270959_S,NTHL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2550498,2550498,G,A,P270959_S,TBC1D24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3017783,3017783,G,A,P270959_S,KREMEN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KREMEN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3614836,3614836,G,A,P270959_S,NLRC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4630134,4630134,G,T,P270959_S,C16orf96,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4795145,4795145,G,A,P270959_S,C16orf71,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf71,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,8735413,8735413,G,A,P270959_S,METTL22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10788751,10788751,C,T,P270959_S,TEKT5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TEKT5,NM_144674:c.-21G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11824275,11824275,C,T,P270959_S,TXNDC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11850079,11850079,C,T,P270959_S,ZC3H7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,12449959,12449959,C,T,P270959_S,SNX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14960353,14960353,G,A,P270959_S,NOMO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOMO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,16218944,16218944,C,T,P270959_S,ABCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,17202992,17202992,T,C,P270959_S,XYLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XYLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19127461,19127461,G,A,P270959_S,ITPRIPL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ITPRIPL2,NM_001034841:c.*70G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19532957,19532957,A,G,P270959_S,GDE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23480173,23480173,C,T,P270959_S,GGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24883268,24883268,G,T,P270959_S,SLC5A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30537379,30537379,G,A,P270959_S,ZNF768,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF768,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31419258,31419258,G,A,P270959_S,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31613639,31613639,A,G,P270959_S,YBX3P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,YBX3P1;CLUHP3,dist=32794;dist=98295,NA,NA,NA,NA,NA,NA,NA,NA
chr16,33379992,33379992,G,A,P270959_S,LOC390705,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC390705;ENPP7P13,dist=81290;dist=191852,NA,NA,NA,NA,NA,NA,NA,NA
chr16,33390442,33390442,G,T,P270959_S,LOC390705,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC390705;ENPP7P13,dist=91740;dist=181402,NA,NA,NA,NA,NA,NA,NA,NA
chr16,34267322,34267322,T,A,P270959_S,CCNYL3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCNYL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50259306,50259306,G,T,P270959_S,TENT4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENT4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55532372,55532372,C,T,P270959_S,MMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55810825,55810825,G,A,P270959_S,CES1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CES1P1;CES1,dist=1999;dist=25939,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57144623,57144623,G,A,P270959_S,CPNE2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CPNE2,NM_152727:c.-32G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57559769,57559769,C,T,P270959_S,CCDC102A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC102A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58318662,58318662,G,A,P270959_S,PRSS54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58554860,58554860,G,A,P270959_S,CNOT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CNOT1,NM_016284:c.*2C>T;NM_001265612:c.*2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,65038496,65038496,A,G,P270959_S,CDH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66847634,66847634,C,T,P270959_S,NAE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67260884,67260884,G,A,P270959_S,LRRC29,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LRRC29,NM_001004055:c.-16793C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68090436,68090436,G,A,P270959_S,DUS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68119804,68119804,C,T,P270959_S,NFATC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFATC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70398660,70398660,A,G,P270959_S,DDX19A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX19A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70405648,70405648,G,A,P270959_S,DDX19A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX19A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70405775,70405775,T,C,P270959_S,DDX19A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX19A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71103419,71103419,T,C,P270959_S,HYDIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74908012,74908012,G,A,P270959_S,WDR59,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WDR59,NM_030581:c.*95C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75670350,75670350,A,G,P270959_S,KARS,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KARS,NM_005548:exon4:c.482+2T>C;NM_001130089:exon5:c.566+2T>C,NA,NA,.,.,D,.,.,.
chr16,78725097,78725097,C,T,P270959_S,WWOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81640607,81640607,C,T,P270959_S,CMIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CMIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81931395,81931395,C,T,P270959_S,PLCG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89930325,89930325,G,A,P270959_S,SPIRE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPIRE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3427470,3427470,G,A,P270959_S,TRPV3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3436281,3436281,C,T,P270959_S,TRPV3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3533696,3533696,C,T,P270959_S,SHPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4579525,4579525,C,T,P270959_S,PELP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PELP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4683950,4683950,G,A,P270959_S,TM4SF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM4SF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5329420,5329420,C,A,P270959_S,RPAIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPAIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6563149,6563149,T,C,P270959_S,ALOX15P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ALOX15P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7011984,7011984,A,C,P270959_S,ASGR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASGR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7245392,7245392,C,T,P270959_S,ACAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10212824,10212824,G,A,P270959_S,MYH13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10419144,10419144,C,T,P270959_S,MYHAS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12642681,12642681,G,A,P270959_S,MYOCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15690950,15690950,C,T,P270959_S,MEIS3P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MEIS3P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16467194,16467194,C,A,P270959_S,ZNF287,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF287,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17067284,17067284,G,A,P270959_S,MPRIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPRIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18883053,18883053,C,T,P270959_S,FAM83G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM83G;SLC5A10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,21191475,21191475,C,T,P270959_S,MAP2K3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,25948187,25948187,C,T,P270959_S,KSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,25969130,25969130,C,T,P270959_S,LGALS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26087250,26087250,C,T,P270959_S,NOS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26821327,26821327,A,G,P270959_S,SLC13A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27935350,27935350,G,A,P270959_S,ANKRD13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36626169,36626169,G,A,P270959_S,ARHGAP23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38574491,38574491,C,T,P270959_S,TOP2A,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TOP2A,dist=343,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38638723,38638723,C,T,P270959_S,TNS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39334491,39334491,A,G,P270959_S,KRTAP4-2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,KRTAP4-2,dist=18,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39680295,39680295,C,T,P270959_S,KRT19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39724648,39724648,G,T,P270959_S,KRT9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39913862,39913862,G,A,P270959_S,JUP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JUP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40009980,40009980,G,A,P270959_S,KLHL11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KLHL11,NM_018143:c.*12C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40257727,40257727,G,A,P270959_S,DHX58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41019939,41019939,G,A,P270959_S,AOC4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AOC4P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45412530,45412530,A,G,P270959_S,EFCAB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46002132,46002132,G,A,P270959_S,SP2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46111374,46111374,G,A,P270959_S,COPZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46133969,46133969,G,A,P270959_S,NFE2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFE2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46441192,46441192,G,A,P270959_S,SKAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47004590,47004590,C,T,P270959_S,UBE2Z,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UBE2Z,NM_023079:c.*94C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47924207,47924207,G,T,P270959_S,FLJ45513,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLJ45513;TAC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48431499,48431499,G,A,P270959_S,XYLT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XYLT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58009147,58009147,G,A,P270959_S,RPS6KB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60753279,60753279,C,T,P270959_S,MRC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60865795,60865795,G,C,P270959_S,MARCHF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62500035,62500035,G,A,P270959_S,DDX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65548309,65548309,G,A,P270959_S,PITPNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65941413,65941413,G,T,P270959_S,BPTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67004443,67004443,A,T,P270959_S,ABCA9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ABCA9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67513855,67513855,G,A,P270959_S,MAP2K6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74468417,74468417,C,T,P270959_S,RHBDF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76200630,76200630,G,T,P270959_S,AFMID,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFMID,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77769847,77769847,C,T,P270959_S,CBX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78215634,78215634,C,T,P270959_S,SLC26A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC26A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78357375,78357375,G,A,P270959_S,RNF213-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RNF213-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79220603,79220603,C,T,P270959_S,SLC38A10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,81082374,81082374,C,T,P270959_S,METRNL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,METRNL;RPL23AP87,dist=29503;dist=92292,NA,NA,NA,NA,NA,NA,NA,NA
chr18,706601,706601,C,T,P270959_S,ENOSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENOSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,2924058,2924058,C,T,P270959_S,LPIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12512401,12512401,T,A,P270959_S,SPIRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPIRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,13387783,13387783,C,A,P270959_S,LDLRAD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDLRAD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19383856,19383856,T,A,P270959_S,MIB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21451645,21451645,G,A,P270959_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21533164,21533164,A,G,P270959_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,34844752,34844752,C,T,P270959_S,CELF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,47095640,47095640,A,G,P270959_S,LIPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,68317846,68317846,C,A,P270959_S,GTSCR1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GTSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,72228055,72228055,G,A,P270959_S,CNDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77802015,77802015,C,T,P270959_S,RBFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,619447,619447,C,T,P270959_S,POLRMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLRMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1014500,1014500,C,T,P270959_S,TMEM259,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM259,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1105312,1105312,G,A,P270959_S,GPX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1109240,1109240,C,T,P270959_S,SBNO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBNO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1128203,1128203,G,A,P270959_S,SBNO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBNO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2136951,2136951,C,T,P270959_S,AP3D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2223210,2223210,C,T,P270959_S,DOT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3180058,3180058,G,A,P270959_S,S1PR4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,S1PR4,NM_003775:c.*113G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3574311,3574311,G,A,P270959_S,HMG20B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMG20B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3940038,3940038,C,T,P270959_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4268821,4268821,G,A,P270959_S,YJU2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,YJU2,NM_018074:c.*128G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4448309,4448309,G,A,P270959_S,UBXN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBXN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4554794,4554794,G,A,P270959_S,SEMA6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5931389,5931389,G,A,P270959_S,RANBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6026086,6026086,G,A,P270959_S,RFX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6906353,6906353,C,T,P270959_S,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7684812,7684812,G,A,P270959_S,XAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7986784,7986784,C,T,P270959_S,SNAPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNAPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8194100,8194100,C,T,P270959_S,FBN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8533529,8533529,C,T,P270959_S,HNRNPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9804632,9804632,T,A,P270959_S,ZNF812P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF812P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11144396,11144396,C,T,P270959_S,SMARCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11446573,11446573,C,T,P270959_S,RAB3D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11459266,11459266,C,T,P270959_S,CCDC159,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC159,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12812274,12812274,G,A,P270959_S,TNPO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNPO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12812535,12812535,G,A,P270959_S,TNPO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNPO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13996911,13996911,G,A,P270959_S,C19orf57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14006453,14006453,C,T,P270959_S,C19orf57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14070575,14070575,G,A,P270959_S,DCAF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14863037,14863037,G,A,P270959_S,ADGRE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15350900,15350900,G,A,P270959_S,BRD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16228944,16228944,A,G,P270959_S,RAB8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16962113,16962113,G,A,P270959_S,SIN3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIN3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17443657,17443657,G,A,P270959_S,ANO8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17671293,17671293,C,T,P270959_S,COLGALT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLGALT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17973464,17973464,C,T,P270959_S,SNORA68,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORA68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18879262,18879262,G,A,P270959_S,CRTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19603525,19603525,C,T,P270959_S,GATAD2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GATAD2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21491953,21491953,G,A,P270959_S,ZNF708,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF708,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33131337,33131337,G,A,P270959_S,ANKRD27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35803146,35803146,C,T,P270959_S,MAG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36029203,36029203,G,T,P270959_S,GAPDHS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAPDHS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36353517,36353517,G,A,P270959_S,KIRREL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIRREL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36611724,36611724,C,T,P270959_S,TBCB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39208035,39208035,C,T,P270959_S,ACTN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39228072,39228072,G,A,P270959_S,CAPN12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39234894,39234894,G,T,P270959_S,CAPN12,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CAPN12,NM_144691:c.-89C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39591011,39591011,C,T,P270959_S,ACP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41076310,41076310,A,G,P270959_S,SPTBN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45641894,45641894,G,A,P270959_S,PPP1R37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45766499,45766499,C,T,P270959_S,MARK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45783751,45783751,C,T,P270959_S,MARK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45939934,45939934,G,A,P270959_S,MIR6088,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR6088,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46206076,46206076,A,T,P270959_S,QPCTL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QPCTL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46253868,46253868,C,T,P270959_S,BHMG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BHMG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47960123,47960123,G,A,P270959_S,SLC8A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC8A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48321785,48321785,G,A,P270959_S,TPRX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TPRX1;CRX,dist=14924;dist=3409,NA,NA,D,.,N,D,N,T
chr19,48741872,48741872,A,G,P270959_S,CARD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48917489,48917489,G,T,P270959_S,GRIN2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIN2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49318540,49318540,C,T,P270959_S,HSD17B14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49477444,49477444,C,T,P270959_S,GYS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49548602,49548602,T,C,P270959_S,CGB5,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,CGB5,dist=34,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50334763,50334763,C,T,P270959_S,MED25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50921226,50921226,C,T,P270959_S,POLD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,POLD1,NM_001256849:c.*22C>T;NM_002691:c.*22C>T;NM_001308632:c.*22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51391236,51391236,G,A,P270959_S,KLKP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,KLKP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51453547,51453547,A,G,P270959_S,KLK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51530680,51530680,G,A,P270959_S,KLK11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52085231,52085231,G,A,P270959_S,ZNF175,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF175,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53370139,53370139,A,G,P270959_S,ZNF320,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF320,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54135213,54135213,A,G,P270959_S,DPRX,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DPRX,dist=97,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54255679,54255679,G,A,P270959_S,MIR519A1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR519A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55824489,55824489,C,T,P270959_S,TMEM150B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM150B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58455461,58455461,G,A,P270959_S,ZNF256,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF256,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58788472,58788472,C,T,P270959_S,ZNF544,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF544,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3018812,3018812,G,A,P270959_S,PTPRA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTPRA,NM_002836:c.*33G>A;NM_080840:c.*33G>A;NM_080841:c.*33G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5156023,5156023,C,T,P270959_S,CDS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5990621,5990621,G,A,P270959_S,CRLS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRLS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10579538,10579538,G,A,P270959_S,SLX4IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLX4IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10624270,10624270,G,A,P270959_S,JAG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,15948346,15948346,A,C,P270959_S,LOC613266,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC613266,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18142382,18142382,C,T,P270959_S,KAT14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,19634881,19634881,C,T,P270959_S,SLC24A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC24A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25264644,25264644,G,A,P270959_S,PYGB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYGB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31451557,31451557,G,T,P270959_S,EFCAB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31756951,31756951,G,A,P270959_S,BPIFA2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,BPIFA2,NM_001319164:c.-1G>A;NM_080574:c.-1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32684442,32684442,G,A,P270959_S,EIF2S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34556601,34556601,A,G,P270959_S,CNBD2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CNBD2,NM_001365709:c.-84A>G;NM_001304367:c.-84A>G;NM_001207076:c.-84A>G;NM_080834:c.-84A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34795725,34795725,G,A,P270959_S,EPB41L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,39985936,39985936,C,T,P270959_S,LPIN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44571670,44571670,C,T,P270959_S,PCIF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50312739,50312739,T,G,P270959_S,ATP9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56822451,56822451,T,G,P270959_S,PPP4R1L,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PPP4R1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57010987,57010987,G,T,P270959_S,VAPB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAPB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61510583,61510583,G,A,P270959_S,DIDO1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DIDO1,NM_033081:c.*2C>T;NM_001193369:c.*2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61526373,61526373,G,A,P270959_S,DIDO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIDO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61584374,61584374,C,G,P270959_S,SLC17A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61880144,61880144,G,A,P270959_S,NKAIN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NKAIN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61937484,61937484,G,A,P270959_S,COL20A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL20A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62051129,62051129,C,T,P270959_S,KCNQ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10862739,10862739,T,C,P270959_S,TEKT4P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TEKT4P2;TPTE,dist=894145;dist=43448,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17238541,17238541,C,T,P270959_S,USP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,36079521,36079521,G,A,P270959_S,CLIC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37749905,37749905,A,C,P270959_S,MORC3,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MORC3,dist=961,NA,NA,NA,NA,NA,NA,NA,NA
chr21,41165351,41165351,G,A,P270959_S,IGSF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43241283,43241283,C,T,P270959_S,PRDM15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43514017,43514017,C,T,P270959_S,UMODL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UMODL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44473973,44473973,G,A,P270959_S,CBS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CBS;CBSL,NM_001321072:c.*17C>T;NM_001178008:c.*17C>T;NM_000071:c.*17C>T;NM_001178009:c.*17C>T;NM_001320298:c.*17C>T;NM_001354008:c.*17C>T;NM_001354007:c.*17C>T;NM_001354010:c.*17C>T;NM_001354006:c.*17C>T;NM_001354015:c.*17C>T;NM_001354014:c.*17C>T;NM_001354012:c.*17C>T;NM_001354009:c.*17C>T;NM_001321073:c.*17C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46914362,46914362,G,A,P270959_S,COL18A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47411057,47411057,C,T,P270959_S,COL6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47581820,47581820,C,T,P270959_S,SPATC1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATC1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17590714,17590714,C,T,P270959_S,IL17RA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IL17RA,NM_014339:c.*4C>T;NM_001289905:c.*4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18189527,18189527,T,C,P270959_S,BCL2L13,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,BCL2L13,NM_001270733:c.-20156T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18348784,18348784,G,T,P270959_S,MICAL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19118894,19118894,G,A,P270959_S,TSSK2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TSSK2;ESS2,NM_053006:c.-19G>A;NM_022719:c.*2815C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20073187,20073187,G,A,P270959_S,DGCR8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGCR8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22599979,22599979,C,T,P270959_S,VPREB1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,VPREB1,dist=52,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23256352,23256352,C,A,P270959_S,IGLL5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IGLL5;RSPH14,dist=18061;dist=145241,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24580637,24580637,C,T,P270959_S,SUSD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUSD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30891509,30891509,G,A,P270959_S,SEC14L4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC14L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30892024,30892024,C,A,P270959_S,SEC14L4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC14L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31006329,31006329,C,T,P270959_S,TCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31286659,31286659,C,T,P270959_S,LOC107985544,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC107985544,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31739107,31739107,G,A,P270959_S,PATZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38494351,38494351,C,T,P270959_S,BAIAP2L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP2L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39105052,39105052,C,T,P270959_S,GTPBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39175702,39175702,G,A,P270959_S,DNAL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40697113,40697113,G,A,P270959_S,TNRC6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNRC6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42289337,42289337,C,T,P270959_S,SREBF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SREBF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42806441,42806441,G,A,P270959_S,NFAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43088674,43088674,C,T,P270959_S,A4GALT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,A4GALT,NM_001318038:c.*222G>A;NM_017436:c.*222G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43658696,43658696,C,T,P270959_S,SCUBE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCUBE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44235695,44235695,G,A,P270959_S,SULT4A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SULT4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50752576,50752576,G,A,P270959_S,DENND6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50902928,50902928,G,A,P270959_S,SBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,5811731,5811731,A,G,P270959_S,NLGN4X,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLGN4X,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,10092158,10092158,G,A,P270959_S,WWC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,12906823,12906823,T,A,P270959_S,TLR7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TLR7,NM_016562:c.*46T>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,12994534,12994534,G,A,P270959_S,TMSB4X,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMSB4X,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19555933,19555933,C,T,P270959_S,SH3KBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3KBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,23804101,23804101,G,A,P270959_S,SAT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SAT1,NM_002970:c.*128G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,37706420,37706420,G,A,P270959_S,DYNLT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNLT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,46401611,46401611,C,T,P270959_S,ZNF674,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF674,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48337107,48337107,G,A,P270959_S,FTSJ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FTSJ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48935597,48935597,C,T,P270959_S,WDR45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49104255,49104255,G,A,P270959_S,CCDC22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53674294,53674294,G,A,P270959_S,HUWE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54473529,54473529,G,T,P270959_S,TSR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TSR2,NM_001346790:c.*2546G>T;NM_001346792:c.*2546G>T;NM_001346791:c.*2546G>T;NM_001346789:c.*2546G>T;NM_058163:c.*2546G>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54950761,54950761,C,T,P270959_S,TRO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,55035888,55035888,T,G,P270959_S,ALAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,64749074,64749074,T,G,P270959_S,LAS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,67421618,67421618,A,G,P270959_S,OPHN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPHN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69606739,69606739,A,G,P270959_S,KIF4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70341311,70341311,G,A,P270959_S,MED12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73046553,73046553,G,T,P270959_S,TSIX,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TSIX;XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,77285066,77285066,T,A,P270959_S,ATP7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,85158427,85158427,G,A,P270959_S,CHM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100609768,100609768,C,T,P270959_S,BTK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,105152558,105152558,C,T,P270959_S,NRK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,109698667,109698667,C,T,P270959_S,RTL9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RTL9,NM_020769:c.*118C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110925532,110925532,C,T,P270959_S,ALG13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,112033809,112033809,T,A,P270959_S,AMOT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMOT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,115582885,115582885,T,C,P270959_S,SLC6A14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118774412,118774412,G,A,P270959_S,SEPTIN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPTIN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,123699222,123699222,T,A,P270959_S,TENM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,128877856,128877856,C,T,P270959_S,XPNPEP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPNPEP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129492865,129492865,G,A,P270959_S,SLC25A14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,130423196,130423196,A,G,P270959_S,IGSF1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,IGSF1,NM_001170962:c.-2548T>C;NM_001170961:c.-2548T>C;NM_001555:c.-2548T>C;NM_205833:c.-2548T>C,NA,NA,NA,NA,NA,NA,NA,NA
chrX,130679011,130679011,G,A,P270959_S,OR13H1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR13H1,dist=37,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133119271,133119271,C,T,P270959_S,GPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133981199,133981199,C,A,P270959_S,FAM122C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM122C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,134156575,134156575,C,T,P270959_S,RTL8B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RTL8B,dist=3,NA,NA,NA,NA,NA,NA,NA,NA
chrX,134679275,134679275,C,T,P270959_S,INTS6L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS6L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,135765012,135765012,G,A,P270959_S,ARHGEF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,146342193,146342193,A,T,P270959_S,MIR509-1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR509-1;MIR509-2;MIR509-3,dist=50,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152089156,152089156,A,G,P270959_S,ZNF185,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF185,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153053751,153053751,C,T,P270959_S,IDH3G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDH3G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153553931,153553931,A,G,P270959_S,TKTL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TKTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153669907,153669907,G,A,P270959_S,GDI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153714796,153714796,G,A,P270959_S,UBL4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBL4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55620211,55620211,A,C,P277337_F,USP24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150469472,150469472,G,A,P277337_F,TARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181021655,181021655,G,A,P277337_F,MR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,232162157,232162157,A,G,P277337_F,TSNAX-DISC1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TSNAX-DISC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31152468,31152468,G,A,P277337_F,GALNT14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48958512,48958512,G,A,P277337_F,LHCGR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LHCGR;STON1-GTF2A1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,149864599,149864599,G,A,P277337_F,KIF5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124385597,124385597,G,A,P277337_F,KALRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KALRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125694317,125694317,T,C,P277337_F,ROPN1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROPN1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130327738,130327738,C,T,P277337_F,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138047998,138047998,C,T,P277337_F,NME9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,186568495,186568495,G,A,P277337_F,SORBS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORBS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,6377209,6377209,A,G,P277337_F,MED10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,71015870,71015870,G,A,P277337_F,CARTPT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARTPT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131607400,131607400,C,T,P277337_F,PDLIM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDLIM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44148417,44148417,G,A,P277337_F,CAPN11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56513510,56513510,A,G,P277337_F,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,82204955,82204955,G,A,P277337_F,BCKDHB,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,BCKDHB;TENT5A,dist=1148968;dist=250492,NA,NA,NA,NA,NA,NA,NA,NA
chr6,90366356,90366356,C,T,P277337_F,LOC101929057,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929057,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123046457,123046457,A,G,P277337_F,PKIB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PKIB,NM_001270393:c.*117A>G;NM_001270394:c.*117A>G;NM_181794:c.*117A>G;NM_032471:c.*117A>G;NM_181795:c.*117A>G;NM_001270395:c.*117A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23545049,23545049,G,A,P277337_F,TRA2A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRA2A,NM_001362761:c.*129C>T;NM_001362759:c.*129C>T;NM_001362760:c.*129C>T;NM_013293:c.*129C>T;NM_001282757:c.*129C>T;NM_001282758:c.*129C>T;NM_001282759:c.*129C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75659642,75659642,C,T,P277337_F,STYXL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STYXL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100225842,100225842,A,G,P277337_F,TFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105658545,105658545,C,T,P277337_F,CDHR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6372319,6372319,G,A,P277337_F,ANGPT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT2;MCPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101831062,101831062,G,A,P277337_F,COL15A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL15A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,117063600,117063600,G,A,P277337_F,COL27A1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,COL27A1,NM_032888:exon53:c.4791+1G>A,NA,NA,.,.,D,.,.,.
chr9,135690166,135690166,G,A,P277337_F,AK8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118231241,118231241,C,T,P277337_F,PNLIPRP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNLIPRP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124269563,124269563,C,T,P277337_F,HTRA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,500807,500807,G,A,P277337_F,RNH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,726778,726778,C,T,P277337_F,EPS8L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1969284,1969284,C,T,P277337_F,CACNA2D4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56648297,56648297,C,T,P277337_F,ANKRD52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,92816505,92816505,C,T,P277337_F,CLLU1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CLLU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120613511,120613511,C,T,P277337_F,GCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23389736,23389736,C,T,P277337_F,PRMT5-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRMT5-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,57696663,57696663,C,T,P277337_F,EXOC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94071303,94071303,G,A,P277337_F,UNC79,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC79,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105834768,105834768,G,A,P277337_F,PACS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20433934,20433934,G,A,P277337_F,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;CHEK2P2,dist=NONE;dist=54063,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45123796,45123796,A,T,P277337_F,SORD2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SORD2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,67212322,67212322,C,T,P277337_F,SMAD6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SMAD6;LINC02206,dist=137135;dist=11553,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1826376,1826376,G,A,P277337_F,EME2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,EME2;SPSB3,dist=337,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3651085,3651085,G,A,P277337_F,ITGAE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36357275,36357275,A,G,P277337_F,LOC440434,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC440434,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45300213,45300213,C,T,P277337_F,MYL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76201357,76201357,G,A,P277337_F,AFMID,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFMID,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,2954447,2954447,C,T,P277337_F,LPIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21453005,21453005,C,T,P277337_F,LAMA3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LAMA3,NM_001127718:c.-4C>T;NM_000227:c.-4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10112590,10112590,G,A,P277337_F,COL5A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11019752,11019752,C,T,P277337_F,CARM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55854078,55854078,C,T,P277337_F,KMT5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25490301,25490301,C,T,P277337_F,NINL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NINL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43521772,43521772,C,T,P277337_F,UMODL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UMODL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47699845,47699845,C,T,P277337_F,MCM3AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM3AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18842429,18842429,G,A,P277337_F,LOC102725072,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102725072,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22661454,22661454,C,A,P277337_F,BMS1P20,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BMS1P20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26156974,26156974,C,T,P277337_F,MYO18B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MYO18B,NM_001318245:c.-86C>T;NM_032608:c.-86C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31330340,31330340,C,T,P277337_F,MORC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41752081,41752081,G,A,P277337_F,ZC3H7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50705965,50705965,G,A,P277337_F,MAPK11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,18775736,18775736,C,T,P277337_F,PPEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1026448,1026448,C,T,P277337_S,C1orf159,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf159,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16378201,16378201,C,T,P277337_S,CLCNKB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCNKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,198247072,198247072,A,G,P277337_S,NEK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230991610,230991610,T,G,P277337_S,C1orf198,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf198,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44145142,44145142,C,A,P277337_S,LRPPRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRPPRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55461946,55461946,G,T,P277337_S,MIR4426,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR4426,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,183843667,183843667,G,C,P277337_S,NCKAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,183960407,183960407,G,T,P277337_S,DUSP19,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DUSP19,NM_080876:c.*21G>T;NM_001142314:c.*21G>T;NM_001321519:c.*191G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,183960408,183960408,G,T,P277337_S,DUSP19,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DUSP19,NM_080876:c.*22G>T;NM_001142314:c.*22G>T;NM_001321519:c.*192G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197594338,197594338,G,A,P277337_S,CCDC150,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC150,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238166239,238166239,G,A,P277337_S,COPS8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,COPS8;COL6A3,dist=157122;dist=66416,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38651221,38651221,G,A,P277337_S,SCN5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125694317,125694317,T,C,P277337_S,ROPN1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROPN1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130327738,130327738,C,T,P277337_S,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,88046157,88046157,A,C,P277337_S,AFF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,106924937,106924937,C,T,P277337_S,LOC101929577,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101929577,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,144448990,144448990,C,T,P277337_S,SMARCA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150843290,150843290,C,T,P277337_S,SLC36A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC36A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44198231,44198231,A,G,P277337_S,SLC29A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC29A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,89913381,89913381,G,A,P277337_S,GABRR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123046457,123046457,A,G,P277337_S,PKIB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PKIB,NM_001270393:c.*117A>G;NM_001270394:c.*117A>G;NM_181794:c.*117A>G;NM_032471:c.*117A>G;NM_181795:c.*117A>G;NM_001270395:c.*117A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144775008,144775008,A,G,P277337_S,UTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160132179,160132179,T,C,P277337_S,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75933506,75933506,G,A,P277337_S,HSPB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HSPB1,NM_001540:c.*16G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75933507,75933507,C,G,P277337_S,HSPB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HSPB1,NM_001540:c.*17C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100082834,100082834,C,T,P277337_S,NYAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NYAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100225842,100225842,A,G,P277337_S,TFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127978433,127978433,G,A,P277337_S,RBM28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11406479,11406479,G,A,P277337_S,BLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42227788,42227788,T,G,P277337_S,POLB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,146115584,146115584,G,A,P277337_S,ZNF250,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF250,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69777897,69777897,G,T,P277337_S,LOC101928381,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928381;FOXD4L5,dist=20113;dist=397810,NA,NA,NA,NA,NA,NA,NA,NA
chr9,77668767,77668767,G,T,P277337_S,CARNMT1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CARNMT1;NMRK1,dist=25558;dist=6726,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101831062,101831062,G,A,P277337_S,COL15A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL15A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123287586,123287586,G,A,P277337_S,CDK5RAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK5RAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,43698895,43698895,G,A,P277337_S,RASGEF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGEF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71048382,71048382,G,A,P277337_S,HK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22384207,22384207,C,G,P277337_S,SLC17A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49854989,49854989,C,T,P277337_S,LOC440040,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC440040;OR4C13,dist=23020;dist=118954,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65803128,65803128,C,T,P277337_S,CATSPER1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CATSPER1;GAL3ST3,dist=9178;dist=5108,NA,NA,NA,NA,NA,NA,NA,NA
chr11,78443642,78443642,T,G,P277337_S,TENM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117227446,117227446,G,A,P277337_S,CEP164,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP164,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31269972,31269972,A,T,P277337_S,OVOS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,OVOS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124072349,124072349,G,A,P277337_S,TMED2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMED2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,19775753,19775753,G,A,P277337_S,LOC101928697,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928697;ANKRD26P3,dist=14148;dist=61187,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21562673,21562673,C,A,P277337_S,ZNF219,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF219,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22971134,22971134,G,A,P277337_S,LOC105370401,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC105370401;LINC02332,dist=19186;dist=54071,NA,NA,NA,NA,NA,NA,NA,NA
chr15,51988315,51988315,G,A,P277337_S,SCG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,83242000,83242000,A,T,P277337_S,CPEB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPEB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68862233,68862233,C,A,P277337_S,CDH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68862234,68862234,A,G,P277337_S,CDH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26939503,26939503,C,T,P277337_S,SPAG5-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SPAG5-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40700271,40700271,C,T,P277337_S,NAGLU,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NAGLU;LOC108783654,dist=3805;dist=4183,NA,NA,NA,NA,NA,NA,NA,NA
chr17,49059836,49059836,C,T,P277337_S,SPAG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72787206,72787206,G,A,P277337_S,TMEM104,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80320602,80320602,C,T,P277337_S,TEX19,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TEX19,NM_207459:c.*81C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,1276104,1276104,T,G,P277337_S,LINC00470,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00470,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,58285148,58285148,G,A,P277337_S,MC4R,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MC4R;CDH20,dist=245140;dist=715515,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33332972,33332972,G,C,P277337_S,SLC7A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36164326,36164326,C,A,P277337_S,UPK1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UPK1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41515837,41515837,G,A,P277337_S,CYP2B6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2B6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41778147,41778147,G,A,P277337_S,HNRNPUL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPUL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43866481,43866481,C,T,P277337_S,CD177,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CD177,NM_020406:c.*9C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2597715,2597715,C,T,P277337_S,TMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36022263,36022263,C,T,P277337_S,SRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26156974,26156974,C,T,P277337_S,MYO18B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MYO18B,NM_001318245:c.-86C>T;NM_032608:c.-86C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106082470,106082470,A,T,P277337_S,TBC1D8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133674361,133674361,T,C,P277337_S,MIR450B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR450B;MIR450A1;MIR450A2,dist=69;dist=10,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16362543,16362543,C,G,P286189_F,CLCNKA,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CLCNKA;CLCNKB,dist=1998;dist=7688,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893042,16893042,T,A,P286189_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,74549888,74549888,A,T,P286189_F,LRRIQ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRIQ3,NA,NA,NA,D,.,D,T,N,T
chr1,148344885,148344885,C,T,P286189_F,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148902406,148902406,C,T,P286189_F,DRD5P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DRD5P2;LOC101060524,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206575128,206575128,T,A,P286189_F,SRGAP2D,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SRGAP2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236732211,236732211,C,A,P286189_F,HEATR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,87303191,87303191,G,A,P286189_F,LOC285074,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC285074,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851371,118851371,T,A,P286189_F,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,131984532,131984532,C,G,P286189_F,POTEE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195378438,195378438,G,C,P286189_F,LOC105374297,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105374297,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196120525,196120525,A,T,P286189_F,UBXN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBXN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197726125,197726125,G,C,P286189_F,LMLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,187084885,187084885,C,T,P286189_F,FAM149A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM149A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34192051,34192051,T,C,P286189_F,LOC646652,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC646652,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,53752117,53752117,T,G,P286189_F,HSPB3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HSPB3,NM_006308:c.*45T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr6,32546743,32546743,C,T,P286189_F,HLA-DRB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HLA-DRB1,NM_002124:c.*125G>A;NM_001243965:c.*125G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,37344602,37344602,T,G,P286189_F,RNF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109659610,109659610,C,G,P286189_F,CCDC162P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCDC162P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30118530,30118530,G,A,P286189_F,PLEKHA8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLEKHA8,NM_001197026:c.*127G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,74172400,74172400,A,T,P286189_F,GTF2I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,86781584,86781584,G,A,P286189_F,LOC101927420,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101927420,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123102941,123102941,G,A,P286189_F,IQUB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQUB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142197606,142197606,T,C,P286189_F,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=40188;dist=176525,NA,NA,NA,NA,NA,NA,NA,NA
chr9,28149038,28149038,C,T,P286189_F,LINGO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LINGO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41954571,41954571,G,A,P286189_F,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41954860,41954860,C,G,P286189_F,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,92718014,92718014,T,C,P286189_F,MTNR1B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MTNR1B;SLC36A4,dist=2066;dist=159326,NA,NA,NA,NA,NA,NA,NA,NA
chr13,36230010,36230010,G,A,P286189_F,NBEA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBEA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23261850,23261850,C,A,P286189_F,GOLGA8IP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GOLGA8IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84859111,84859111,G,A,P286189_F,UBE2Q2L,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,UBE2Q2L;LOC440300,dist=8126;dist=1489,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84859156,84859156,C,T,P286189_F,UBE2Q2L,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,UBE2Q2L;LOC440300,dist=8171;dist=1444,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1507408,1507408,A,G,P286189_F,CLCN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31987176,31987176,T,C,P286189_F,ZNF267,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF267;LOC102723753,dist=58498;dist=176257,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32006277,32006277,T,C,P286189_F,ZNF267,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF267;LOC102723753,dist=77599;dist=157156,NA,NA,NA,NA,NA,NA,NA,NA
chr16,76669458,76669458,C,T,P286189_F,LINC02125,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02125,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,85112418,85112418,G,A,P286189_F,KIAA0513,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0513,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29623317,29623317,G,A,P286189_F,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11021042,11021042,G,T,P286189_F,BAGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11039394,11039394,C,T,P286189_F,BAGE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BAGE2;BAGE3;BAGE4;BAGE5,NM_182482:c.*272G>A;NM_182481:c.*272G>A;NM_181704:c.*487G>A;NM_182484:c.*487G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44479129,44479129,G,A,P286189_F,CBS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBS;CBSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25053392,25053392,G,A,P286189_F,POM121L10P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,POM121L10P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,13397443,13397443,G,A,P286189_F,LINC01203,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01203;EGFL6,dist=37499;dist=190277,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9714397,9714397,C,T,P286189_S,PIK3CD-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIK3CD-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11899022,11899022,A,G,P286189_S,CLCN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN6,NA,NA,NA,D,U,N,D,N,T
chr1,22304712,22304712,A,G,P286189_S,CELA3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELA3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38022687,38022687,G,A,P286189_S,DNALI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNALI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44057241,44057241,C,T,P286189_S,PTPRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47027453,47027453,T,C,P286189_S,MKNK1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MKNK1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,74835344,74835344,C,A,P286189_S,FPGT-TNNI3K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FPGT-TNNI3K;TNNI3K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,76347064,76347064,C,T,P286189_S,MSH4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109363077,109363077,T,C,P286189_S,AKNAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKNAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,111742151,111742151,G,A,P286189_S,DENND2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113113194,113113194,C,T,P286189_S,ST7L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST7L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,117568608,117568608,T,C,P286189_S,LOC101929099,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101929099,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118483854,118483854,T,C,P286189_S,WDR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150240259,150240259,T,A,P286189_S,APH1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APH1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158622877,158622877,C,T,P286189_S,SPTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,162467101,162467101,G,C,P286189_S,UHMK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UHMK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202858062,202858062,A,C,P286189_S,RABIF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABIF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207644307,207644307,T,A,P286189_S,CR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207785531,207785531,G,A,P286189_S,CR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207890691,207890691,G,A,P286189_S,CR1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CR1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,209773324,209773324,T,C,P286189_S,CAMK1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,222696921,222696921,A,G,P286189_S,HHIPL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHIPL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226574025,226574025,A,G,P286189_S,PARP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PARP1,NM_001618:exon6:c.834+2T>C,NA,NA,.,.,D,.,.,.
chr2,28789587,28789587,T,A,P286189_S,PLB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,28789588,28789588,C,T,P286189_S,PLB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,30976065,30976065,C,T,P286189_S,CAPN13,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CAPN13,NM_144575:exon10:c.942-1G>A,NA,NA,.,.,D,.,.,.
chr2,32289336,32289336,G,A,P286189_S,SPAST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44050079,44050079,G,A,P286189_S,ABCG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCG5;DYNC2LI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89416780,89416780,C,A,P286189_S,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;NONE,dist=304812;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98410023,98410023,G,A,P286189_S,TMEM131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98950083,98950083,C,A,P286189_S,VWA3B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,VWA3B;CNGA3,dist=20334;dist=12535,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101591416,101591416,A,T,P286189_S,LOC101927142,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927142,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851371,118851371,T,A,P286189_S,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,167297859,167297859,A,G,P286189_S,SCN7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,173340523,173340523,C,T,P286189_S,ITGA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,175234715,175234715,C,A,P286189_S,CIR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191996576,191996576,G,A,P286189_S,STAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217724266,217724266,C,A,P286189_S,TNP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNP1,NM_003284:c.*124G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219256250,219256250,G,A,P286189_S,SLC11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242680289,242680289,G,A,P286189_S,D2HGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,D2HGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52422806,52422806,G,A,P286189_S,DNAH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,78766584,78766584,C,A,P286189_S,ROBO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119043742,119043742,G,C,P286189_S,ARHGAP31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151463546,151463546,C,A,P286189_S,AADACL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AADACL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170892965,170892965,G,C,P286189_S,TNIK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170906705,170906705,G,T,P286189_S,TNIK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197726125,197726125,G,C,P286189_S,LMLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,7715708,7715708,T,G,P286189_S,SORCS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORCS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57397395,57397395,C,T,P286189_S,THEGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THEGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38445657,38445657,C,G,P286189_S,EGFLAM,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EGFLAM,NM_182801:c.-5788C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,40841787,40841787,T,G,P286189_S,CARD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,41732016,41732016,C,T,P286189_S,OXCT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXCT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70072763,70072763,C,G,P286189_S,LOC101929599,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101929599,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,110446028,110446028,T,C,P286189_S,WDR36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,110456905,110456905,G,A,P286189_S,WDR36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112327785,112327785,A,T,P286189_S,DCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,160114708,160114708,G,C,P286189_S,ATP10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP10B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176832461,176832461,G,T,P286189_S,F12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,154831150,154831150,C,T,P286189_S,CNKSR3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CNKSR3,NM_001368116:c.-78G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,46736477,46736477,A,G,P286189_S,LOC730338,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC730338,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,54636665,54636665,T,C,P286189_S,VSTM2A-OT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,VSTM2A-OT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,81399150,81399150,A,T,P286189_S,HGF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HGF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,90338723,90338723,A,T,P286189_S,CDK14,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CDK14,NM_012395:c.-133A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102920439,102920439,C,T,P286189_S,DPY19L2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DPY19L2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123102941,123102941,G,A,P286189_S,IQUB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQUB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140453982,140453982,G,A,P286189_S,BRAF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142569437,142569437,G,A,P286189_S,TRPV6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRPV6,NM_018646:c.*23C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149524876,149524876,G,A,P286189_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131070122,131070122,T,C,P286189_S,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,8733862,8733862,C,T,P286189_S,PTPRD,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTPRD,NM_001171025:c.-19G>A;NM_130393:c.-19G>A;NM_130391:c.-19G>A;NM_001040712:c.-19G>A;NM_002839:c.-19G>A;NM_130392:c.-19G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41954571,41954571,G,A,P286189_S,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,73235311,73235311,A,T,P286189_S,TRPM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,82188537,82188537,G,T,P286189_S,TLE4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125618007,125618007,A,G,P286189_S,RC3H2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RC3H2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,126130061,126130061,G,A,P286189_S,CRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130742446,130742446,A,G,P286189_S,FAM102A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM102A,NM_001035254:c.-30T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr10,82043542,82043542,A,T,P286189_S,MAT1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAT1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95109751,95109751,G,A,P286189_S,MYOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,116085922,116085922,T,C,P286189_S,AFAP1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFAP1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135025134,135025134,C,T,P286189_S,KNDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1509215,1509215,C,T,P286189_S,MOB2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MOB2;DUSP8,dist=1206;dist=66066,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4964870,4964870,G,T,P286189_S,OR51G1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR51G1;OR51A4,dist=19301;dist=2519,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6637882,6637882,T,A,P286189_S,TPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7693821,7693821,C,G,P286189_S,CYB5R2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYB5R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,16036470,16036470,T,A,P286189_S,SOX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,34155691,34155691,A,G,P286189_S,NAT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61091214,61091214,C,A,P286189_S,DDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64217401,64217401,C,T,P286189_S,LINC02724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64503371,64503371,T,A,P286189_S,RASGRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,69469085,69469085,T,G,P286189_S,CCND1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCND1,NM_053056:c.*3035T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102707536,102707536,A,T,P286189_S,MMP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,109964052,109964052,C,T,P286189_S,ZC3H12C,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ZC3H12C,dist=66,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111742295,111742295,G,A,P286189_S,ALG9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ALG9,NM_001352409:c.-10974C>T;NM_001352410:c.-10974C>T;NM_001352413:c.-10974C>T;NM_001352418:c.-89C>T;NM_024740:c.-89C>T;NM_001352417:c.-89C>T;NM_001077690:c.-89C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117342518,117342518,G,A,P286189_S,DSCAML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSCAML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124763743,124763743,C,T,P286189_S,ROBO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,129788416,129788416,C,G,P286189_S,PRDM10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9465115,9465115,A,G,P286189_S,LOC642846,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC642846,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,44199790,44199790,C,A,P286189_S,TWF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TWF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48545242,48545242,T,C,P286189_S,ASB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53587221,53587221,T,C,P286189_S,ZNF740,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF740,NM_001004304:c.*5847T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53849094,53849094,A,T,P286189_S,PCBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56487712,56487712,G,A,P286189_S,ERBB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERBB3,NA,NA,NA,.,.,N,.,.,.
chr12,56606933,56606933,G,A,P286189_S,RNF41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56646775,56646775,C,T,P286189_S,ANKRD52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81734726,81734726,G,T,P286189_S,PPFIA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120518898,120518898,A,G,P286189_S,BICDL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BICDL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121932214,121932214,C,T,P286189_S,KDM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52742175,52742175,T,C,P286189_S,MRPS31P5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MRPS31P5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,19889878,19889878,G,T,P286189_S,BMS1P22,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BMS1P22;DUXAP10;DUXAP9,NA,NA,NA,.,.,.,.,.,.
chr14,20265202,20265202,A,G,P286189_S,OR4M1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4M1;OR4N2,dist=15779;dist=6727,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21584745,21584745,C,T,P286189_S,ZNF219,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF219;OR5AU1,dist=11882;dist=38279,NA,NA,NA,NA,NA,NA,NA,NA
chr14,61910081,61910081,T,C,P286189_S,PRKCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65248997,65248997,C,T,P286189_S,SPTB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94563922,94563922,G,T,P286189_S,IFI27L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFI27L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102964136,102964136,G,T,P286189_S,TECPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TECPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102964137,102964137,A,T,P286189_S,TECPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TECPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106347174,106347174,C,T,P286189_S,MIR4539,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4539;FAM30A,dist=20590;dist=36664,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106586382,106586382,C,T,P286189_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=148024;dist=157887,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20645751,20645751,G,A,P286189_S,HERC2P3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HERC2P3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50545696,50545696,G,A,P286189_S,HDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52060620,52060620,G,A,P286189_S,TMOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66205992,66205992,C,T,P286189_S,MEGF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,70350666,70350666,A,T,P286189_S,TLE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90192006,90192006,C,T,P286189_S,KIF7,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KIF7,NM_198525:exon5:c.924-1G>A,NA,NA,.,.,D,.,.,.
chr15,100673379,100673379,T,G,P286189_S,ADAMTS17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,100673380,100673380,G,T,P286189_S,ADAMTS17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,728087,728087,G,T,P286189_S,RHBDL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RHBDL1,NM_001278720:c.*35G>T;NM_001278721:c.*35G>T;NM_001318733:c.*35G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,8829581,8829581,T,G,P286189_S,ABAT,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABAT,NM_020686:c.-16T>G;NM_000663:c.-16T>G;NM_001127448:c.-16T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20335750,20335750,A,T,P286189_S,GP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31160628,31160628,C,T,P286189_S,PRSS36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31277647,31277647,G,T,P286189_S,ITGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32006277,32006277,T,C,P286189_S,ZNF267,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF267;LOC102723753,dist=77599;dist=157156,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57079257,57079257,G,T,P286189_S,NLRC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68225706,68225706,A,T,P286189_S,NFATC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFATC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71103419,71103419,T,C,P286189_S,HYDIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89617098,89617098,G,A,P286189_S,SPG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3194877,3194877,A,G,P286189_S,OR3A1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR3A1,dist=52,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5040086,5040086,G,A,P286189_S,USP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6329863,6329863,A,T,P286189_S,AIPL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AIPL1,NM_001285403:c.*43T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26604254,26604254,G,T,P286189_S,KRT18P55,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,KRT18P55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27591499,27591499,C,T,P286189_S,NUFIP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NUFIP2,NM_020772:c.*58G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37571216,37571216,C,T,P286189_S,MED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40721753,40721753,G,A,P286189_S,MLX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41141582,41141582,G,A,P286189_S,RUNDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41599229,41599229,A,T,P286189_S,DHX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47390220,47390220,A,G,P286189_S,ZNF652,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF652,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56400201,56400201,G,A,P286189_S,TSPOAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPOAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58257853,58257853,A,T,P286189_S,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,59482508,59482508,C,T,P286189_S,TBX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72785115,72785115,T,C,P286189_S,TMEM104,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77710790,77710790,G,A,P286189_S,ENPP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENPP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21759906,21759906,G,A,P286189_S,OSBPL1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBPL1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33306577,33306577,A,G,P286189_S,TDRD12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39038802,39038802,A,T,P286189_S,RYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42855762,42855762,G,A,P286189_S,MEGF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54604117,54604117,G,C,P286189_S,OSCAR,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OSCAR,NM_130771:c.-34C>G;NM_001282350:c.-34C>G;NM_206818:c.-34C>G;NM_133168:c.-34C>G;NM_001282349:c.-34C>G;NM_133169:c.-34C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55697773,55697773,C,T,P286189_S,PTPRH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34191301,34191301,G,A,P286189_S,FER1L4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FER1L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43030206,43030206,A,G,P286189_S,HNF4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNF4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43803718,43803718,G,A,P286189_S,PI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47843104,47843104,A,T,P286189_S,DDX27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62703316,62703316,G,T,P286189_S,TCEA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCEA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10919969,10919969,C,G,P286189_S,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11039441,11039441,G,C,P286189_S,BAGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,36170286,36170286,C,T,P286189_S,RUNX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40717601,40717601,C,T,P286189_S,HMGN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30695397,30695397,C,A,P286189_S,TBC1D10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46684495,46684495,G,A,P286189_S,TTC38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,123505287,123505287,A,G,P286189_S,SH2D1A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SH2D1A,NM_002351:c.*46A>G;NM_001114937:c.*46A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1217116,1217116,G,A,P286189_T,SCNN1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCNN1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6188528,6188528,G,A,P286189_T,CHD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10405867,10405867,G,T,P286189_T,KIF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893042,16893042,T,A,P286189_T,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16894607,16894607,A,G,P286189_T,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16908030,16908030,T,C,P286189_T,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16975343,16975343,T,C,P286189_T,MST1P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MST1P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17723714,17723714,C,T,P286189_T,PADI6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PADI6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17945810,17945810,T,C,P286189_T,ARHGEF10L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF10L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20834250,20834250,C,T,P286189_T,MUL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,34065643,34065643,A,T,P286189_T,CSMD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38200385,38200385,A,T,P286189_T,EPHA10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44785286,44785286,T,C,P286189_T,ERI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45472611,45472611,T,A,P286189_T,HECTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46769428,46769428,C,A,P286189_T,UQCRH,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,UQCRH,NM_001297566:c.-11C>A;NM_001297565:c.-6226C>A;NM_006004:c.-11C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54867739,54867739,C,T,P286189_T,SSBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65831623,65831623,T,C,P286189_T,DNAJC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,90459939,90459939,C,A,P286189_T,GEMIN8P4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GEMIN8P4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109440340,109440340,A,G,P286189_T,GPSM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPSM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114185206,114185206,T,A,P286189_T,MAGI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120924742,120924742,A,G,P286189_T,LOC100996318,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LOC100996318,dist=282,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145498268,145498268,T,C,P286189_T,LIX1L-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LIX1L-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148023192,148023192,G,T,P286189_T,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160083247,160083247,C,T,P286189_T,IGSF8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IGSF8;ATP1A2,dist=14629;dist=2302,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167873004,167873004,A,G,P286189_T,ADCY10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168160605,168160605,A,T,P286189_T,TIPRL,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TIPRL,NM_001031800:exon4:c.385-2A>T;NM_152902:exon4:c.385-2A>T,NA,NA,.,.,D,.,.,.
chr1,183205829,183205829,G,C,P286189_T,LAMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220831181,220831181,G,A,P286189_T,MARK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,221509371,221509371,C,A,P286189_T,C1orf140,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C1orf140,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228295996,228295996,T,C,P286189_T,MRPL55,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MRPL55,NM_181462:c.-35A>G;NM_181456:c.-35A>G;NM_181455:c.-35A>G;NM_181454:c.-35A>G;NM_181441:c.-35A>G;NM_181465:c.-35A>G;NM_181464:c.-35A>G;NM_001321284:c.-35A>G;NM_181463:c.-35A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237608504,237608504,A,G,P286189_T,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7160957,7160957,A,C,P286189_T,RNF144A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF144A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,29450573,29450573,G,A,P286189_T,ALK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48601965,48601965,A,G,P286189_T,FOXN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73800568,73800568,T,C,P286189_T,ALMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALMS1,NA,NA,NA,.,.,D,.,.,.
chr2,98444296,98444296,T,C,P286189_T,TMEM131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113481214,113481214,C,T,P286189_T,NT5DC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5DC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114204961,114204961,T,G,P286189_T,CBWD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBWD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851371,118851371,T,A,P286189_T,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,143718389,143718389,T,C,P286189_T,KYNU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KYNU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,163078140,163078140,A,T,P286189_T,FAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,170681124,170681124,G,T,P286189_T,METTL5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,METTL5,NM_001293186:c.-17C>A;NM_001293187:c.-17C>A;NM_014168:c.-17C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,172586454,172586454,A,G,P286189_T,DYNC1I2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1I2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202490927,202490927,T,C,P286189_T,TMEM237,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM237,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209108528,209108528,A,G,P286189_T,IDH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217736205,217736205,T,A,P286189_T,LINC01921,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01921,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,227872307,227872307,A,G,P286189_T,COL4A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,227959006,227959006,C,A,P286189_T,COL4A4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,COL4A4,NM_000092:exon20:c.1205-1G>T,NA,NA,.,.,D,.,.,.
chr2,227959007,227959007,T,C,P286189_T,COL4A4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,COL4A4,NM_000092:exon20:c.1205-2A>G,NA,NA,.,.,D,.,.,.
chr2,231266272,231266272,A,G,P286189_T,SP140L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234546137,234546137,C,A,P286189_T,UGT1A10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGT1A10;UGT1A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234546143,234546143,T,C,P286189_T,UGT1A10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGT1A10;UGT1A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238257201,238257201,T,C,P286189_T,COL6A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242440271,242440271,T,C,P286189_T,STK25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,17077281,17077281,C,A,P286189_T,PLCL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,31710062,31710062,T,C,P286189_T,OSBPL10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBPL10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44283926,44283926,C,T,P286189_T,TOPAZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOPAZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,78742489,78742489,T,C,P286189_T,ROBO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,110993922,110993922,G,A,P286189_T,NECTIN3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NECTIN3;CD96,dist=80906;dist=267122,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122630048,122630048,G,T,P286189_T,SEMA5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126390529,126390529,G,T,P286189_T,NUP210P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NUP210P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169801682,169801682,T,C,P286189_T,GPR160,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183907074,183907074,G,T,P286189_T,ABCF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195486285,195486285,T,A,P286189_T,MUC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197726125,197726125,G,C,P286189_T,LMLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2498862,2498862,G,A,P286189_T,RNF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3137938,3137938,T,C,P286189_T,HTT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,9232095,9232095,C,T,P286189_T,USP17L13,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,USP17L13;USP17L15,dist=3881;dist=4016,NA,NA,NA,NA,NA,NA,NA,NA
chr4,17606156,17606156,G,A,P286189_T,LAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25759125,25759125,T,C,P286189_T,SEL1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEL1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,37839237,37839237,T,C,P286189_T,PGM2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PGM2,NM_018290:exon4:c.441+2T>C,NA,NA,.,.,D,.,.,.
chr4,74283700,74283700,G,A,P286189_T,ALB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74852983,74852983,A,G,P286189_T,PPBP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PPBP,NM_002704:c.*6T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100787526,100787526,C,G,P286189_T,DAPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,109822237,109822237,T,C,P286189_T,COL25A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL25A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146296988,146296988,G,T,P286189_T,LINC02266,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02266;SMAD1,dist=35417;dist=105470,NA,NA,NA,NA,NA,NA,NA,NA
chr4,152065609,152065609,A,G,P286189_T,SH3D19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3D19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,169229148,169229148,T,C,P286189_T,DDX60,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX60,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,170616730,170616730,G,A,P286189_T,CLCN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34192051,34192051,T,C,P286189_T,LOC646652,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC646652,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34192207,34192207,C,T,P286189_T,LOC646652,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC646652,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,58387154,58387154,A,G,P286189_T,PDE4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72861546,72861546,A,T,P286189_T,ANKRA2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ANKRA2;UTP15,dist=20,NA,NA,NA,NA,NA,NA,NA,NA
chr5,95091477,95091477,A,T,P286189_T,RHOBTB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOBTB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,96237793,96237793,T,C,P286189_T,ERAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122372322,122372322,G,A,P286189_T,PPIC,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PPIC,NM_000943:c.-2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140057462,140057462,A,G,P286189_T,HARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141029186,141029186,A,C,P286189_T,FCHSD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCHSD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148442251,148442251,C,T,P286189_T,SH3TC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3TC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,160114708,160114708,G,C,P286189_T,ATP10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP10B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177684036,177684036,C,T,P286189_T,COL23A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL23A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,7399081,7399081,T,C,P286189_T,RIOK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43523750,43523750,A,G,P286189_T,POLR1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR1C;XPO5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70966624,70966624,A,G,P286189_T,COL9A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,118635176,118635176,G,T,P286189_T,SLC35F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,132930119,132930119,C,T,P286189_T,TAAR3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TAAR3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144205367,144205367,C,A,P286189_T,ZC2HC1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC2HC1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,165711449,165711449,C,T,P286189_T,C6orf118,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C6orf118,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2955012,2955012,G,A,P286189_T,CARD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6641821,6641821,G,A,P286189_T,C7orf26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C7orf26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22347934,22347934,T,C,P286189_T,RAPGEF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38370016,38370016,C,A,P286189_T,TARP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TARP;TRG-AS1,dist=56768;dist=11162,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47476842,47476842,A,G,P286189_T,TNS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50156799,50156799,T,G,P286189_T,SPATA48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,74172400,74172400,A,T,P286189_T,GTF2I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94214936,94214936,C,T,P286189_T,SGCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,117424524,117424524,A,G,P286189_T,CTTNBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTTNBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123102941,123102941,G,A,P286189_T,IQUB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQUB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130151561,130151561,A,G,P286189_T,COPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142197606,142197606,T,C,P286189_T,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=40188;dist=176525,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142197613,142197613,T,C,P286189_T,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=40195;dist=176518,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149524876,149524876,G,A,P286189_T,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11163594,11163594,T,C,P286189_T,MTMR9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17218845,17218845,C,T,P286189_T,MTMR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,28956865,28956865,C,T,P286189_T,KIF13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30335455,30335455,G,T,P286189_T,RBPMS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBPMS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39836763,39836763,A,G,P286189_T,IDO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,109260720,109260720,C,T,P286189_T,EIF3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,139763774,139763774,G,A,P286189_T,COL22A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL22A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33332515,33332515,G,A,P286189_T,NFX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33618081,33618081,A,G,P286189_T,ANKRD18B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANKRD18B;ANXA2P2,dist=42641;dist=6142,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35059239,35059239,C,A,P286189_T,VCP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VCP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35061240,35061240,A,G,P286189_T,VCP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VCP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36064011,36064011,T,C,P286189_T,RECK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RECK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41954571,41954571,G,A,P286189_T,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41954860,41954860,C,G,P286189_T,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69205423,69205423,T,A,P286189_T,CBWD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBWD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,85913565,85913565,C,T,P286189_T,FRMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,89771583,89771583,T,C,P286189_T,C9orf170,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C9orf170,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,94867037,94867037,T,C,P286189_T,SPTLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99271906,99271906,G,A,P286189_T,CDC14B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC14B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116967364,116967364,T,A,P286189_T,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116967366,116967366,C,A,P286189_T,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123631809,123631809,A,T,P286189_T,PHF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127933494,127933494,T,A,P286189_T,PPP6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135946121,135946121,T,C,P286189_T,CEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137741057,137741057,A,G,P286189_T,MIR3689A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR3689A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,3154559,3154559,T,A,P286189_T,PFKP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27494048,27494048,T,A,P286189_T,ACBD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACBD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50184744,50184744,A,G,P286189_T,WDFY4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDFY4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50916770,50916770,T,C,P286189_T,C10orf53,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C10orf53,NM_182554:c.*107T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr10,62671318,62671318,A,G,P286189_T,RHOBTB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOBTB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,83637822,83637822,A,T,P286189_T,NRG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRG3,NA,NA,NA,D,.,N,T,N,T
chr10,88415858,88415858,A,G,P286189_T,OPN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,88418154,88418154,T,C,P286189_T,OPN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,89474010,89474010,G,T,P286189_T,PAPSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98084013,98084013,T,A,P286189_T,DNTT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNTT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99155918,99155918,C,G,P286189_T,RRP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,101420143,101420143,T,C,P286189_T,ENTPD7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ENTPD7,NM_001349962:c.-83T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126395080,126395080,A,G,P286189_T,FAM53B-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM53B-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126727634,126727634,A,G,P286189_T,CTBP2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CTBP2,NM_001321014:c.-11T>C;NM_001321013:c.-11T>C;NM_001321012:c.-11T>C;NM_001083914:c.-11T>C;NM_001290215:c.-11T>C;NM_001290214:c.-11T>C;NM_001329:c.-11T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134503960,134503960,G,T,P286189_T,INPP5A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,INPP5A,NM_005539:exon5:c.370+1G>T;NM_001321042:exon2:c.178+1G>T,NA,NA,.,.,D,.,.,.
chr11,418870,418870,G,C,P286189_T,ANO9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1492697,1492697,C,A,P286189_T,MOB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17742376,17742376,G,A,P286189_T,MYOD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,32449454,32449454,C,T,P286189_T,WT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46408262,46408262,C,T,P286189_T,CHRM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47837428,47837428,C,T,P286189_T,NUP160,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63999562,63999562,T,C,P286189_T,DNAJC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65822499,65822499,A,G,P286189_T,SF3B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF3B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117342518,117342518,G,A,P286189_T,DSCAML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSCAML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,133768499,133768499,G,C,P286189_T,MIR4697HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4697HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1299265,1299265,T,C,P286189_T,ERC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2691863,2691863,G,A,P286189_T,CACNA1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6675223,6675223,A,G,P286189_T,NOP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7280543,7280543,G,A,P286189_T,RBP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8387907,8387907,C,T,P286189_T,FAM86FP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM86FP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9577294,9577294,C,T,P286189_T,DDX12P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DDX12P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10133472,10133472,A,G,P286189_T,CLEC12A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC12A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18444105,18444105,T,C,P286189_T,PIK3C2G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3C2G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40927104,40927104,C,G,P286189_T,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48374532,48374532,T,C,P286189_T,COL2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49259226,49259226,G,T,P286189_T,RND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51504625,51504625,T,C,P286189_T,TFCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56733354,56733354,A,G,P286189_T,IL23A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL23A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58142290,58142290,T,C,P286189_T,CDK4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDK4;TSPAN31,NM_000075:c.*18A>G;NM_005981:c.*1217T>C;NM_001330169:c.*1217T>C;NM_001330168:c.*1217T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,59280683,59280683,A,T,P286189_T,LRIG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRIG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62883761,62883761,A,G,P286189_T,MON2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MON2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,108082134,108082134,C,T,P286189_T,PWP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PWP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109277501,109277501,C,A,P286189_T,DAO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110295490,110295490,C,T,P286189_T,GLTP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLTP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110390293,110390293,A,G,P286189_T,GIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,118677089,118677089,T,C,P286189_T,TAOK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAOK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121604039,121604039,G,T,P286189_T,P2RX7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P2RX7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123960426,123960426,C,T,P286189_T,RILPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RILPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124885019,124885019,C,T,P286189_T,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132589550,132589550,G,A,P286189_T,EP400P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,EP400P1,NA,NA,NA,D,U,N,.,D,T
chr13,33309504,33309504,G,A,P286189_T,PDS5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDS5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,42773948,42773948,G,A,P286189_T,DGKH,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DGKH,NM_001204504:exon21:c.2397-1G>A;NM_178009:exon20:c.2397-1G>A;NM_152910:exon20:c.2397-1G>A;NM_001204506:exon18:c.1989-1G>A;NM_001297429:exon16:c.1662-1G>A;NM_001204505:exon18:c.1989-1G>A,NA,NA,.,.,D,.,.,.
chr13,77730178,77730178,T,C,P286189_T,MYCBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYCBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22279989,22279989,G,A,P286189_T,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=140757;dist=567819,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23392174,23392174,C,G,P286189_T,PRMT5-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PRMT5-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24464197,24464197,C,G,P286189_T,DHRS4L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS4L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50267507,50267507,C,T,P286189_T,NEMF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEMF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53145034,53145034,T,G,P286189_T,ERO1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERO1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65251141,65251141,C,T,P286189_T,SPTB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96949263,96949263,A,G,P286189_T,AK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104501416,104501416,T,A,P286189_T,TDRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,33091169,33091169,G,A,P286189_T,FMN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43574972,43574972,G,T,P286189_T,TGM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45895267,45895267,A,T,P286189_T,BLOC1S6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLOC1S6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,60740951,60740951,C,T,P286189_T,ICE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ICE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74489638,74489638,C,A,P286189_T,STRA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,77025449,77025449,T,C,P286189_T,SCAPER,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAPER,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,80253257,80253257,T,C,P286189_T,BCL2A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BCL2A1,NM_004049:c.*152A>G;NM_001114735:c.*244A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84859111,84859111,G,A,P286189_T,UBE2Q2L,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,UBE2Q2L;LOC440300,dist=8126;dist=1489,NA,NA,NA,NA,NA,NA,NA,NA
chr15,89002658,89002658,A,G,P286189_T,MRPL46,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MRPL46,dist=51,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90774765,90774765,T,C,P286189_T,CIB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102516218,102516218,G,A,P286189_T,WASH3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,WASH3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1493172,1493172,G,T,P286189_T,CCDC154,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC154,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1507408,1507408,A,G,P286189_T,CLCN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28618715,28618715,G,T,P286189_T,SULT1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SULT1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31160628,31160628,C,T,P286189_T,PRSS36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58544455,58544455,T,C,P286189_T,NDRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74424407,74424407,A,T,P286189_T,NPIPB15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPIPB15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75498315,75498315,G,C,P286189_T,TMEM170A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TMEM170A,NM_001304997:c.-167C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr16,82660572,82660572,C,A,P286189_T,CDH13,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CDH13,dist=2,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84126632,84126632,A,C,P286189_T,MBTPS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBTPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,86371080,86371080,C,A,P286189_T,LINC00917,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00917,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,87734639,87734639,C,A,P286189_T,JPH3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,JPH3;KLHDC4,dist=2878;dist=6779,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10609961,10609961,T,C,P286189_T,ADPRM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADPRM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18584160,18584160,G,A,P286189_T,ZNF286B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF286B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19564615,19564615,G,A,P286189_T,ALDH3A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH3A2,NA,NA,NA,.,.,N,.,.,.
chr17,37579915,37579915,A,G,P286189_T,MED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45380019,45380019,G,T,P286189_T,ITGB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,55943950,55943950,C,T,P286189_T,CUEDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUEDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76424500,76424500,A,G,P286189_T,DNAH17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77076848,77076848,C,T,P286189_T,ENGASE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENGASE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78211722,78211722,G,A,P286189_T,SLC26A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC26A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78449567,78449567,G,A,P286189_T,NPTX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPTX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79827175,79827175,C,T,P286189_T,ARHGDIA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGDIA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80758593,80758593,G,C,P286189_T,TBCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,18539926,18539926,A,T,P286189_T,ROCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43528348,43528348,A,G,P286189_T,EPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44015495,44015495,T,C,P286189_T,RNF165,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF165,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,50731744,50731744,G,T,P286189_T,DCC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,63511018,63511018,A,T,P286189_T,CDH7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3770571,3770571,C,T,P286189_T,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4182594,4182594,A,G,P286189_T,ANKRD24,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ANKRD24;SIRT6,dist=757,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5667913,5667913,G,T,P286189_T,SAFB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAFB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6707729,6707729,C,T,P286189_T,C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8151309,8151309,G,T,P286189_T,FBN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9727629,9727629,C,T,P286189_T,ZNF561,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF561,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10244189,10244189,G,T,P286189_T,DNMT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DNMT1,NM_001318731:c.*154C>A;NM_001318730:c.*154C>A;NM_001130823:c.*154C>A;NM_001379:c.*154C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10793485,10793485,T,C,P286189_T,ILF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ILF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15483330,15483330,A,G,P286189_T,AKAP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16284095,16284095,T,C,P286189_T,CIB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16593454,16593454,G,A,P286189_T,CALR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19855316,19855316,G,A,P286189_T,ZNF14,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF14;LINC00663,dist=11395;dist=11865,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21326287,21326287,A,G,P286189_T,ZNF431,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF431,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33584452,33584452,A,G,P286189_T,GPATCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36253093,36253093,C,T,P286189_T,PROSER3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROSER3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47770151,47770151,A,G,P286189_T,CCDC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49340544,49340544,G,C,P286189_T,PLEKHA4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLEKHA4,NM_020904:c.*2C>G;NM_001161354:c.*294C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50945580,50945580,G,A,P286189_T,MYBPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52095878,52095878,A,G,P286189_T,LINC01530,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01530,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54784233,54784233,C,T,P286189_T,LILRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54969956,54969956,T,C,P286189_T,LENG8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LENG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55452412,55452412,A,G,P286189_T,NLRP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55697773,55697773,C,T,P286189_T,PTPRH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56757867,56757867,A,C,P286189_T,ZSCAN5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58373960,58373960,T,C,P286189_T,ZNF587,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF587,NM_001204817:c.*2452T>C;NM_032828:c.*2452T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3675193,3675193,G,A,P286189_T,SIGLEC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIGLEC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,9453863,9453863,A,C,P286189_T,PLCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29623922,29623922,G,A,P286189_T,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34802270,34802270,T,C,P286189_T,EPB41L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37002476,37002476,G,A,P286189_T,LBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61942916,61942916,G,A,P286189_T,COL20A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL20A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11021042,11021042,G,T,P286189_T,BAGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11021125,11021125,C,T,P286189_T,BAGE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BAGE2;BAGE3;BAGE4;BAGE5,NM_182482:c.*1262G>A;NM_182481:c.*1262G>A;NM_181704:c.*1357G>A;NM_182484:c.*1357G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11039441,11039441,G,C,P286189_T,BAGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,42080820,42080820,C,A,P286189_T,DSCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44484129,44484129,C,T,P286189_T,CBS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBS;CBSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17395438,17395438,A,G,P286189_T,HSFY1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HSFY1P1;GAB4,dist=85213;dist=47388,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19958516,19958516,A,G,P286189_T,ARVCF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARVCF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23247000,23247000,T,C,P286189_T,IGLL5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IGLL5;RSPH14,dist=8709;dist=154593,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32937470,32937470,C,A,P286189_T,SYN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,49662353,49662353,G,A,P286189_T,LINC01310,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01310;NONE,dist=368155;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chrX,18259531,18259531,A,G,P286189_T,SCML2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCML2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,30739207,30739207,C,A,P286189_T,GK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47006923,47006923,A,T,P286189_T,RBM10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,50122937,50122937,C,T,P286189_T,DGKK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118750504,118750504,T,C,P286189_T,SEPTIN6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEPTIN6,NM_145800:c.*243A>G;NM_145802:c.*192A>G,NA,NA,NA,NA,NA,NA,NA,NA
chrX,140926251,140926251,C,A,P286189_T,MAGEC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGEC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152483039,152483039,A,T,P286189_T,MAGEA1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MAGEA1,NM_004988:c.-29T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9778148,9778148,C,T,P293977_F,PIK3CD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46027356,46027356,G,A,P293977_F,AKR1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51905987,51905987,A,G,P293977_F,EPS15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65131620,65131620,G,A,P293977_F,CACHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,84765360,84765360,T,A,P293977_F,SAMD13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMD13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,107997966,107997966,G,A,P293977_F,NTNG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTNG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109482210,109482210,C,T,P293977_F,CLCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145297544,145297544,T,C,P293977_F,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155184507,155184507,C,T,P293977_F,GBAP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GBAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161128002,161128002,G,A,P293977_F,UFC1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,UFC1,NM_016406:exon5:c.423+1G>A,NA,NA,.,.,D,.,.,.
chr1,220831226,220831226,C,T,P293977_F,MARK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,248285985,248285985,T,A,P293977_F,OR2M1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR2M1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7471526,7471526,G,A,P293977_F,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=253515;dist=89866,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37599652,37599652,C,T,P293977_F,QPCT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QPCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42578835,42578835,T,C,P293977_F,COX7A2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX7A2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44776713,44776713,T,C,P293977_F,CAMKMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201752461,201752461,C,A,P293977_F,PPIL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219144898,219144898,G,A,P293977_F,MIR6513,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR6513,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233204492,233204492,G,A,P293977_F,DIS3L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIS3L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242347091,242347091,C,A,P293977_F,FARP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242438017,242438017,C,T,P293977_F,STK25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242438042,242438042,C,G,P293977_F,STK25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9979832,9979832,G,A,P293977_F,CRELD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRELD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14962064,14962064,G,A,P293977_F,FGD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15540004,15540004,G,A,P293977_F,COLQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37845250,37845250,A,G,P293977_F,ITGA9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ITGA9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47288808,47288808,C,T,P293977_F,KIF9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47618238,47618238,A,C,P293977_F,CSPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,62477233,62477233,A,C,P293977_F,CADPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108788613,108788613,G,C,P293977_F,MORC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127106712,127106712,G,A,P293977_F,LINC02016,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02016,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130365141,130365141,T,C,P293977_F,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151174671,151174671,C,G,P293977_F,IGSF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151986509,151986509,G,T,P293977_F,MBNL1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MBNL1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170856182,170856182,G,A,P293977_F,TNIK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,190991372,190991372,C,T,P293977_F,UTS2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTS2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194313610,194313610,A,G,P293977_F,TMEM44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196744196,196744196,G,A,P293977_F,MELTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MELTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197350329,197350329,G,A,P293977_F,LOC220729,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC220729,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1696380,1696380,G,A,P293977_F,SLBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555380,20555380,A,G,P293977_F,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555394,20555394,A,G,P293977_F,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73933707,73933707,A,G,P293977_F,COX18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,121631395,121631395,T,C,P293977_F,PRDM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,153884135,153884135,A,G,P293977_F,FHDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4087373,4087373,C,T,P293977_F,IRX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IRX1;LINC02114,dist=485856;dist=686221,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70357189,70357189,C,A,P293977_F,GTF2H2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2H2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76649239,76649239,A,G,P293977_F,PDE8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,83433038,83433038,T,C,P293977_F,EDIL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDIL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132358371,132358371,T,C,P293977_F,ZCCHC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36287479,36287479,G,A,P293977_F,BNIP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42643681,42643681,T,C,P293977_F,UBR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43521263,43521263,T,C,P293977_F,POLR1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR1C;XPO5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623922,55623922,T,C,P293977_F,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1532860,1532860,G,A,P293977_F,INTS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,17843014,17843014,T,G,P293977_F,SNX13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,36580189,36580189,T,C,P293977_F,AOAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AOAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,36580192,36580192,G,A,P293977_F,AOAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AOAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,64378780,64378780,T,C,P293977_F,ZNF273,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF273,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72281001,72281001,C,T,P293977_F,TYW1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75914617,75914617,A,G,P293977_F,SRRM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75914634,75914634,A,G,P293977_F,SRRM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76610510,76610510,C,T,P293977_F,DTX2P1-UPK3BP1-PMS2P11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DTX2P1-UPK3BP1-PMS2P11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95838085,95838085,A,G,P293977_F,SLC25A13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,101556715,101556715,C,G,P293977_F,CUX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392911,107392911,C,G,P293977_F,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,135384012,135384012,C,T,P293977_F,SLC13A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139724357,139724357,C,T,P293977_F,PARP12,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PARP12,NM_022750:c.*3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142032141,142032141,A,G,P293977_F,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=60073;dist=125201,NA,NA,NA,NA,NA,NA,NA,NA
chr8,3224480,3224480,C,A,P293977_F,CSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6679329,6679329,C,A,P293977_F,XKR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XKR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10479119,10479119,C,A,P293977_F,RP1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RP1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17401353,17401353,C,T,P293977_F,SLC7A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17408002,17408002,C,T,P293977_F,SLC7A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,87656767,87656767,G,A,P293977_F,CNGB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNGB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95521875,95521875,T,C,P293977_F,VIRMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIRMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,26892268,26892268,T,C,P293977_F,CAAP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CAAP1,NM_001167575:c.-4889A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr9,90346033,90346033,G,A,P293977_F,CTSL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CTSL,NM_145918:c.*11G>A;NM_001912:c.*11G>A;NM_001257972:c.*11G>A;NM_001257973:c.*11G>A;NM_001257971:c.*11G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,90534137,90534137,G,A,P293977_F,LOC497256,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC497256,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,93627213,93627213,C,T,P293977_F,SYK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113137517,113137517,G,T,P293977_F,SVEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116187096,116187096,A,G,P293977_F,C9orf43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C9orf43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131760293,131760293,C,T,P293977_F,NUP188,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136208642,136208642,G,A,P293977_F,MED22,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MED22,NM_181491:c.*2328C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138523184,138523184,A,G,P293977_F,GLT6D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLT6D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139317788,139317788,C,T,P293977_F,PMPCA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PMPCA,NM_001282946:c.*72C>T;NM_001282944:c.*72C>T;NM_015160:c.*72C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140946687,140946687,C,T,P293977_F,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140946701,140946701,C,T,P293977_F,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104232785,104232785,G,A,P293977_F,MFSD13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135204519,135204519,G,A,P293977_F,PAOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9771612,9771612,T,C,P293977_F,SWAP70,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SWAP70,NM_015055:c.*95T>C;NM_001297714:c.*95T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17613231,17613231,C,T,P293977_F,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47181308,47181308,A,G,P293977_F,C11orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47194031,47194031,C,T,P293977_F,ARFGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47345402,47345402,G,T,P293977_F,MADD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MADD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,48454222,48454222,G,T,P293977_F,OR4C5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4C5;OR4A47,dist=66182;dist=56123,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49854847,49854847,A,G,P293977_F,LOC440040,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC440040;OR4C13,dist=22878;dist=119096,NA,NA,NA,NA,NA,NA,NA,NA
chr11,57087403,57087403,G,A,P293977_F,TNKS1BP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNKS1BP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62345936,62345936,C,G,P293977_F,TUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65836096,65836096,C,T,P293977_F,SF3B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF3B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66259343,66259343,G,A,P293977_F,DPP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66469235,66469235,G,A,P293977_F,SPTBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68837737,68837737,A,G,P293977_F,TPCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118629354,118629354,A,G,P293977_F,DDX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125851255,125851255,G,A,P293977_F,CDON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7078791,7078791,G,A,P293977_F,PHB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27540104,27540104,C,T,P293977_F,ARNTL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,42748096,42748096,C,T,P293977_F,DGKH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,42748100,42748100,C,T,P293977_F,DGKH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,103339284,103339284,A,G,P293977_F,METTL21C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL21C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31787638,31787638,C,T,P293977_F,HEATR5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106994129,106994129,A,C,P293977_F,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=42600;dist=264971,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34542373,34542373,C,T,P293977_F,SLC12A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40019053,40019053,A,C,P293977_F,FSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43785328,43785328,G,A,P293977_F,TP53BP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TP53BP1,NM_001141979:c.-87C>T;NM_001355001:c.-46584C>T;NM_001141980:c.-87C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44092622,44092622,G,A,P293977_F,SERF2-C15ORF63,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SERF2-C15ORF63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21363460,21363460,G,C,P293977_F,SNX29P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_splicing,SNX29P1,NR_045011:exon2:c.107+1G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr16,48576675,48576675,C,T,P293977_F,N4BP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,N4BP1,NM_153029:c.*140G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50368818,50368818,C,T,P293977_F,BRD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816454,50816454,C,T,P293977_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816460,50816460,A,T,P293977_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58019551,58019551,G,A,P293977_F,TEPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEPP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70179599,70179599,G,A,P293977_F,PDPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,85339744,85339744,C,T,P293977_F,MIR5093,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR5093,dist=88,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6690574,6690574,C,T,P293977_F,FBXO39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8296812,8296812,C,T,P293977_F,RNF222,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF222,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16251858,16251858,C,T,P293977_F,CENPV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26889694,26889694,C,T,P293977_F,PIGS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58064759,58064759,A,G,P293977_F,RNFT1-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RNFT1-DT;TBC1D3P1-DHX40P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66366432,66366432,A,G,P293977_F,ARSG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARSG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,1276003,1276003,T,A,P293977_F,LINC00470,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00470,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4497104,4497104,C,T,P293977_F,HDGFL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDGFL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7996001,7996001,G,A,P293977_F,TIMM44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMM44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10091320,10091320,T,A,P293977_F,COL5A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15299712,15299712,C,T,P293977_F,NOTCH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOTCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39208864,39208864,G,A,P293977_F,ACTN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39600817,39600817,G,A,P293977_F,ACP7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ACP7,NM_001363687:c.*109G>A;NM_001004318:c.*59G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41627168,41627168,C,T,P293977_F,CYP2F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45385691,45385691,G,C,P293977_F,NECTIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECTIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50028278,50028278,G,A,P293977_F,FCGRT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCGRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50764005,50764005,C,T,P293977_F,MYH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52937477,52937477,A,G,P293977_F,ZNF534,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF534,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54189660,54189660,T,C,P293977_F,MIR519C,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR519C,dist=63,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58059567,58059567,G,A,P293977_F,ZNF550,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF550,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58864243,58864243,G,A,P293977_F,A1BG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,A1BG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58927957,58927957,T,C,P293977_F,ZNF584,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF584,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29992575,29992575,G,A,P293977_F,DEFB121,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,DEFB121,dist=73,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31480835,31480835,T,C,P293977_F,EFCAB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52557960,52557960,C,T,P293977_F,SUMO1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SUMO1P1;BCAS1,dist=65712;dist=2117,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47648262,47648262,C,T,P293977_F,LSS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18384565,18384565,C,T,P293977_F,MICAL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23596776,23596776,G,A,P293977_F,BCR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39498434,39498434,T,C,P293977_F,APOBEC3H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC3H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19477980,19477980,C,A,P293977_F,MAP3K15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49458881,49458881,G,A,P293977_F,PAGE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAGE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54951852,54951852,C,T,P293977_F,TRO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,64936389,64936389,C,T,P293977_F,MSN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,74641897,74641897,A,G,P293977_F,ZDHHC15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106199639,106199639,T,A,P293977_F,MORC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,119428064,119428064,C,T,P293977_F,TMEM255A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM255A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,123229188,123229188,A,C,P293977_F,STAG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153551730,153551730,T,C,P293977_F,TKTL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TKTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11591813,11591813,G,A,P293977_S,DISP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893170,16893170,T,C,P293977_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16900847,16900847,A,C,P293977_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32628641,32628641,C,G,P293977_S,KPNA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35455822,35455822,T,C,P293977_S,ZMYM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43917596,43917596,G,T,P293977_S,SZT2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SZT2,NM_015284:c.*1445G>T;NM_001365999:c.*1445G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45472830,45472830,T,G,P293977_S,HECTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,57192098,57192098,G,T,P293977_S,FYB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FYB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92941785,92941785,G,A,P293977_S,GFI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,142713061,142713061,T,G,P293977_S,ANKRD20A12P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ANKRD20A12P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,146399630,146399630,A,G,P293977_S,NBPF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF10;NBPF12;NBPF19;NBPF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148873483,148873483,C,T,P293977_S,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150465028,150465028,T,C,P293977_S,TARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151212529,151212529,A,G,P293977_S,PIP5K1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP5K1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154215664,154215664,C,T,P293977_S,UBAP2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBAP2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158815273,158815273,A,G,P293977_S,MNDA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MNDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,171130610,171130610,T,C,P293977_S,FMO6P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FMO6P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206515244,206515244,A,C,P293977_S,SRGAP2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SRGAP2,dist=956,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207241463,207241463,C,G,P293977_S,PFKFB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKFB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7386198,7386198,C,T,P293977_S,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=168187;dist=175194,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7410010,7410010,C,T,P293977_S,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=191999;dist=151382,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48018293,48018293,T,G,P293977_S,MSH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113764165,113764165,G,A,P293977_S,IL36A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL36A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,182412625,182412625,G,C,P293977_S,CERKL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERKL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206481651,206481651,A,G,P293977_S,PARD3B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PARD3B,NM_152526:c.*1114A>G;NM_001302769:c.*1114A>G;NM_057177:c.*1114A>G;NM_205863:c.*1114A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234678126,234678126,C,T,P293977_S,UGT1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGT1A1;UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242347091,242347091,C,A,P293977_S,FARP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242438006,242438006,C,A,P293977_S,STK25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242438017,242438017,C,T,P293977_S,STK25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242438042,242438042,C,G,P293977_S,STK25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9979832,9979832,G,A,P293977_S,CRELD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRELD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14962064,14962064,G,A,P293977_S,FGD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38830337,38830337,G,A,P293977_S,SCN10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49879850,49879850,G,A,P293977_S,TRAIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108788613,108788613,G,C,P293977_S,MORC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127106712,127106712,G,A,P293977_S,LINC02016,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02016,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151174671,151174671,C,G,P293977_S,IGSF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151986509,151986509,G,T,P293977_S,MBNL1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MBNL1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,189598036,189598036,A,G,P293977_S,TP63,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TP63,NM_001114979:c.*69A>G;NM_001114982:c.*69A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,190991372,190991372,C,T,P293977_S,UTS2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTS2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555394,20555394,A,G,P293977_S,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,153884135,153884135,A,G,P293977_S,FHDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,889315,889315,A,G,P293977_S,BRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,13758879,13758879,C,G,P293977_S,DNAH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32444936,32444936,G,A,P293977_S,ZFR,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ZFR,dist=90,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68928540,68928540,T,C,P293977_S,GTF2H2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GTF2H2B;GUSBP3,dist=37485;dist=6750,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76649239,76649239,A,G,P293977_S,PDE8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149617971,149617971,T,C,P293977_S,CAMK2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,154297658,154297658,G,A,P293977_S,GEMIN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEMIN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24871015,24871015,G,T,P293977_S,RIPOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIPOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,17843014,17843014,T,G,P293977_S,SNX13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,18300231,18300231,C,T,P293977_S,HDAC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23210705,23210705,C,T,P293977_S,KLHL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72281001,72281001,C,T,P293977_S,TYW1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,77394989,77394989,A,T,P293977_S,RSBN1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSBN1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,101556715,101556715,C,G,P293977_S,CUX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,106809408,106809408,C,T,P293977_S,HBP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HBP1,NM_001244262:c.-50C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392911,107392911,C,G,P293977_S,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392917,107392917,C,G,P293977_S,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139724357,139724357,C,T,P293977_S,PARP12,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PARP12,NM_022750:c.*3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142197606,142197606,T,C,P293977_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=40188;dist=176525,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142197613,142197613,T,C,P293977_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=40195;dist=176518,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86573733,86573733,C,T,P293977_S,REXO1L2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,REXO1L2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110445486,110445486,C,G,P293977_S,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,132916774,132916774,C,T,P293977_S,EFR3A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EFR3A,NM_001323555:c.-40239C>T;NM_001323554:c.-40239C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,26892268,26892268,T,C,P293977_S,CAAP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CAAP1,NM_001167575:c.-4889A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113137517,113137517,G,T,P293977_S,SVEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135946121,135946121,T,C,P293977_S,CEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138523184,138523184,A,G,P293977_S,GLT6D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLT6D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140218042,140218042,T,C,P293977_S,EXD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140693517,140693517,T,C,P293977_S,EHMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140946687,140946687,C,T,P293977_S,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5041252,5041252,G,A,P293977_S,AKR1C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,43606946,43606946,G,A,P293977_S,RET,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RET,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70139328,70139328,T,G,P293977_S,RUFY2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUFY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,72614360,72614360,C,T,P293977_S,SGPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124271228,124271228,G,A,P293977_S,HTRA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47345402,47345402,G,T,P293977_S,MADD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MADD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,48454222,48454222,G,T,P293977_S,OR4C5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4C5;OR4A47,dist=66182;dist=56123,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65555009,65555009,G,A,P293977_S,OVOL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OVOL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67187911,67187911,C,T,P293977_S,CARNS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARNS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71820069,71820069,C,T,P293977_S,LRTOMT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRTOMT,NM_001145309:c.*98C>T;NM_001145310:c.*98C>T;NM_001145308:c.*98C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,123455084,123455084,G,A,P293977_S,GRAMD1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124856587,124856587,T,G,P293977_S,CCDC15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130103878,130103878,T,G,P293977_S,ZBTB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB44,NM_014155:c.*280A>C;NM_001370219:c.*8A>C;NM_001370220:c.*8A>C;NM_001370221:c.*280A>C;NM_001370222:c.*8A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,33579035,33579035,G,A,P293977_S,SYT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57960816,57960816,A,G,P293977_S,KIF5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,95456527,95456527,T,C,P293977_S,NR2C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR2C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,23249233,23249233,A,G,P293977_S,LINC00540,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00540;LINC00621,dist=398574;dist=201298,NA,NA,NA,NA,NA,NA,NA,NA
chr13,103339284,103339284,A,G,P293977_S,METTL21C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL21C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93717735,93717735,G,A,P293977_S,BTBD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTBD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,99879152,99879152,G,A,P293977_S,SETD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22963959,22963959,T,C,P293977_S,CYFIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYFIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40645349,40645349,C,T,P293977_S,PHGR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHGR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52548788,52548788,G,A,P293977_S,MYO5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,100332897,100332897,C,T,P293977_S,DNM1P46,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DNM1P46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67056,67056,A,G,P293977_S,MIR6859-1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR6859-1;MIR6859-2;MIR6859-3;MIR6859-4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10631639,10631639,G,A,P293977_S,EMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20599444,20599444,C,A,P293977_S,ACSM2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ACSM2B;ACSM1,dist=11755;dist=35113,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816454,50816454,C,T,P293977_S,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816460,50816460,A,T,P293977_S,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67985304,67985304,G,A,P293977_S,SLC12A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70557184,70557184,G,A,P293977_S,COG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70993505,70993505,A,G,P293977_S,HYDIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71103419,71103419,T,C,P293977_S,HYDIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89981360,89981360,C,T,P293977_S,TCF25,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TCF25;MC1R,dist=3573;dist=2927,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8296812,8296812,C,T,P293977_S,RNF222,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF222,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16251858,16251858,C,T,P293977_S,CENPV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20768912,20768912,C,G,P293977_S,CCDC144NL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC144NL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40457477,40457477,A,G,P293977_S,STAT5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42114216,42114216,G,A,P293977_S,LSM12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSM12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56385346,56385346,C,A,P293977_S,TSPOAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPOAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71739055,71739055,G,A,P293977_S,LOC100134391,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC100134391,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73953517,73953517,T,C,P293977_S,ACOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76732535,76732535,T,C,P293977_S,CYTH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78325715,78325715,C,T,P293977_S,RNF213-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RNF213-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,1276003,1276003,T,A,P293977_S,LINC00470,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00470,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,7017268,7017268,G,T,P293977_S,LAMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10396064,10396064,C,T,P293977_S,ICAM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ICAM1,NM_000201:c.*101C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14247351,14247351,G,A,P293977_S,ASF1B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ASF1B,NM_018154:c.-83C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43689419,43689419,A,C,P293977_S,PSG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44345044,44345044,T,C,P293977_S,ZNF283,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF283,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45385691,45385691,G,C,P293977_S,NECTIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECTIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47212415,47212415,G,T,P293977_S,PRKD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49965078,49965078,G,A,P293977_S,ALDH16A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH16A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50938271,50938271,A,G,P293977_S,MYBPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55452186,55452186,T,C,P293977_S,NLRP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2928760,2928760,C,G,P293977_S,PTPRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32349592,32349592,T,C,P293977_S,ZNF341,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF341,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47688692,47688692,C,T,P293977_S,CSE1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSE1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10919969,10919969,C,G,P293977_S,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33733447,33733447,G,A,P293977_S,URB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,URB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44195241,44195241,A,G,P293977_S,PDE9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30038463,30038463,A,G,P293977_S,NF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37531274,37531274,A,G,P293977_S,IL2RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,51171553,51171553,C,T,P293977_S,SHANK3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SHANK3,NM_033517:c.*1813C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,8095216,8095216,A,T,P293977_S,MIR651,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR651,dist=114,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24380681,24380681,C,G,P293977_S,SUPT20HL1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SUPT20HL1,dist=119,NA,NA,NA,NA,NA,NA,NA,NA
chrX,74641897,74641897,A,G,P293977_S,ZDHHC15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106199639,106199639,T,A,P293977_S,MORC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152989481,152989481,G,A,P293977_S,BCAP31,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,BCAP31,NM_001139441:c.-782C>T;NM_001139457:c.-362C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1201293,1201293,A,G,P294163_F,UBE2J2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2J2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6867024,6867024,A,G,P294163_F,CAMTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12954579,12954579,C,T,P294163_F,PRAMEF4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRAMEF4;PRAMEF8,dist=8554;dist=21888,NA,NA,T,N,N,T,N,T
chr1,16892010,16892010,T,C,P294163_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892365,16892365,C,G,P294163_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,76775752,76775752,A,T,P294163_F,ST6GALNAC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST6GALNAC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100206538,100206538,C,T,P294163_F,FRRS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRRS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,142813116,142813116,A,G,P294163_F,ANKRD20A12P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANKRD20A12P;LOC102723769,dist=99511;dist=321487,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167025119,167025119,G,A,P294163_F,GPA33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPA33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196759379,196759379,T,A,P294163_F,CFHR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFHR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7386198,7386198,C,T,P294163_F,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=168187;dist=175194,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42996746,42996746,A,T,P294163_F,HAAO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAAO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74230324,74230324,C,T,P294163_F,TET3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TET3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206630093,206630093,T,C,P294163_F,NRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239237562,239237562,C,T,P294163_F,TRAF3IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAF3IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239990611,239990611,G,T,P294163_F,HDAC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49018904,49018904,C,T,P294163_F,ARIH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARIH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51930729,51930729,G,A,P294163_F,IQCF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108074252,108074252,G,A,P294163_F,HHLA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHLA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184557334,184557334,C,T,P294163_F,VPS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195665608,195665608,G,A,P294163_F,TNK2-AS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TNK2-AS1;SDHAP1,dist=25473;dist=21184,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555394,20555394,A,G,P294163_F,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,82355728,82355728,C,T,P294163_F,RASGEF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGEF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119461571,119461571,C,T,P294163_F,CEP170P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CEP170P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,170354832,170354832,G,A,P294163_F,NEK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,185859722,185859722,C,T,P294163_F,MIR4455,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4455,dist=128,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1216641,1216641,G,A,P294163_F,SLC6A19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179133074,179133074,G,A,P294163_F,CANX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CANX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,7861591,7861591,C,T,P294163_F,BMP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,9616237,9616237,G,A,P294163_F,LOC100506207,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100506207;TFAP2A,dist=830559;dist=780673,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10830677,10830677,A,G,P294163_F,MAK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33608098,33608098,C,T,P294163_F,ITPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623922,55623922,T,C,P294163_F,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,75861568,75861568,C,T,P294163_F,COL12A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL12A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,76617511,76617511,A,G,P294163_F,MYO6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,170061270,170061270,G,A,P294163_F,WDR27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2985389,2985389,G,C,P294163_F,CARD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,12644342,12644342,C,G,P294163_F,SCIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,26251843,26251843,C,T,P294163_F,CBX3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CBX3,NM_007276:c.*15C>T;NM_016587:c.*15C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43490602,43490602,G,A,P294163_F,HECW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,66479602,66479602,G,A,P294163_F,TYW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73973140,73973140,C,T,P294163_F,GTF2IRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2IRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,80286060,80286060,T,C,P294163_F,CD36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,133881903,133881903,A,T,P294163_F,LRGUK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRGUK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139311546,139311546,G,A,P294163_F,HIPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141785895,141785895,T,C,P294163_F,MGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142120201,142120201,G,C,P294163_F,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=148133;dist=37141,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142612594,142612594,C,T,P294163_F,TRPV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27292158,27292158,C,T,P294163_F,PTK2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95174471,95174471,G,A,P294163_F,CDH17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100519303,100519303,T,C,P294163_F,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,107694713,107694713,T,G,P294163_F,OXR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125589769,125589769,T,C,P294163_F,MTSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141449081,141449081,A,G,P294163_F,TRAPPC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,12678,12678,G,C,P294163_F,DDX11L5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DDX11L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101759427,101759427,G,A,P294163_F,COL15A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL15A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101905030,101905030,G,A,P294163_F,TGFBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGFBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,12126772,12126772,G,A,P294163_F,DHTKD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHTKD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13246397,13246397,G,A,P294163_F,MCM10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15838349,15838349,G,A,P294163_F,MINDY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MINDY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,36812521,36812521,C,T,P294163_F,PCAT5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PCAT5;ANKRD30A,dist=722673;dist=602264,NA,NA,NA,NA,NA,NA,NA,NA
chr10,51464832,51464832,G,A,P294163_F,AGAP7P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AGAP7P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75189381,75189381,G,A,P294163_F,MSS51,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSS51,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75874196,75874196,C,T,P294163_F,VCL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VCL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,85912240,85912240,G,A,P294163_F,GHITM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GHITM,NM_014394:c.*136G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96073218,96073218,G,A,P294163_F,PLCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,33360760,33360760,C,T,P294163_F,HIPK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIPK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,43333879,43333879,G,C,P294163_F,API5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,API5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130103878,130103878,T,G,P294163_F,ZBTB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB44,NM_014155:c.*280A>C;NM_001370219:c.*8A>C;NM_001370220:c.*8A>C;NM_001370221:c.*280A>C;NM_001370222:c.*8A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7973705,7973705,T,A,P294163_F,SLC2A14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,42768446,42768446,T,C,P294163_F,PPHLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPHLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50367787,50367787,G,A,P294163_F,AQP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AQP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51695708,51695708,C,T,P294163_F,BIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96350453,96350453,G,A,P294163_F,AMDHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMDHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102069236,102069236,C,A,P294163_F,MYBPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,115120531,115120531,C,T,P294163_F,TBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117479867,117479867,G,A,P294163_F,TESC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TESC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120954684,120954684,G,A,P294163_F,COQ5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51378309,51378309,C,T,P294163_F,PYGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76644781,76644781,G,A,P294163_F,GPATCH2L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPATCH2L,NM_001322032:c.*294G>A;NM_001322026:c.*294G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91738962,91738962,G,A,P294163_F,CCDC88C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCDC88C,NM_001080414:c.*7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96135856,96135856,A,G,P294163_F,TCL6,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TCL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101506006,101506006,C,T,P294163_F,MIR376A2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR376A2;MIR376B;MIR376C;MIR654,dist=21,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43993035,43993035,G,A,P294163_F,STRCP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,STRCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,53043710,53043710,G,A,P294163_F,FAM214A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM214A;ONECUT1,dist=72879;dist=3541,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81489598,81489598,G,A,P294163_F,IL16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85166542,85166542,T,C,P294163_F,ZSCAN2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZSCAN2,NM_181877:c.*1271T>C,NA,NA,D,.,N,T,N,T
chr16,698250,698250,G,A,P294163_F,MCRIP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MCRIP2,NM_001331229:c.*60G>A;NM_001331230:c.*60G>A;NM_138418:c.*60G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,831981,831981,G,A,P294163_F,MIR662,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR662;RPUSD1,dist=11704;dist=2993,NA,NA,D,.,N,T,N,T
chr16,8941448,8941448,G,A,P294163_F,PMM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PMM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27715132,27715132,C,T,P294163_F,KIAA0556,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0556,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88801211,88801211,C,T,P294163_F,LOC100289580,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100289580,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7164338,7164338,G,A,P294163_F,CLDN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLDN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10626542,10626542,C,T,P294163_F,TMEM220,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM220,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27906079,27906079,C,T,P294163_F,GIT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33477458,33477458,G,A,P294163_F,UNC45B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC45B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43309976,43309976,T,G,P294163_F,FMNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45469940,45469940,G,A,P294163_F,EFCAB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73754219,73754219,C,T,P294163_F,GALK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78919379,78919379,G,A,P294163_F,RPTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79193675,79193675,C,T,P294163_F,CEP131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21118656,21118656,G,A,P294163_F,NPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29800032,29800032,C,T,P294163_F,MEP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,34901757,34901757,G,T,P294163_F,CELF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61154124,61154124,G,A,P294163_F,SERPINB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,67755165,67755165,C,T,P294163_F,RTTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7705429,7705429,C,T,P294163_F,STXBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STXBP2,NA,NA,NA,.,.,N,.,.,T
chr19,30099722,30099722,C,T,P294163_F,POP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35646589,35646589,G,A,P294163_F,FXYD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXYD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36364429,36364429,A,G,P294163_F,APLP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APLP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43406438,43406438,A,G,P294163_F,PSG6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PSG6,NM_001031850:c.*126T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52785626,52785626,T,C,P294163_F,ZNF766,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF766,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56297263,56297263,C,T,P294163_F,NLRP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,23667710,23667710,G,A,P294163_F,CST4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CST4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42199743,42199743,A,G,P294163_F,SGK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11098863,11098863,A,G,P294163_F,BAGE,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NM_001187:c.-126T>C;NM_182482:c.-146T>C;NM_182481:c.-146T>C;NM_181704:c.-126T>C;NM_182484:c.-126T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30439504,30439504,G,A,P294163_F,CCT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38131411,38131411,T,C,P294163_F,HLCS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLCS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30067772,30067772,C,T,P294163_F,NF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37531289,37531289,C,T,P294163_F,IL2RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37899082,37899082,G,A,P294163_F,CARD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38308048,38308048,A,G,P294163_F,MICALL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICALL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40078442,40078442,C,T,P294163_F,CACNA1I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41228079,41228079,T,C,P294163_F,ST13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,71933558,71933558,G,A,P294163_F,PHKA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHKA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,79699250,79699250,A,T,P294163_F,TENT5D,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TENT5D,NM_001170574:c.*42A>T;NM_152630:c.*42A>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,105570903,105570903,T,C,P294163_F,PWWP3B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PWWP3B;RADX,dist=117954;dist=284257,NA,NA,NA,NA,NA,NA,NA,NA
chr1,14774,14774,G,A,P294163_S,WASH7P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH7P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1120235,1120235,C,T,P294163_S,TTLL10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6867024,6867024,A,G,P294163_S,CAMTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9305631,9305631,G,A,P294163_S,H6PD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,H6PD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12954579,12954579,C,T,P294163_S,PRAMEF4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRAMEF4;PRAMEF8,dist=8554;dist=21888,NA,NA,T,N,N,T,N,T
chr1,16909000,16909000,C,A,P294163_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45472830,45472830,T,G,P294163_S,HECTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,76775752,76775752,A,T,P294163_S,ST6GALNAC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST6GALNAC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78245195,78245195,C,T,P294163_S,MIGA1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIGA1,dist=114,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92528603,92528603,T,A,P294163_S,EPHX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145293069,145293069,A,T,P294163_S,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148023204,148023204,T,A,P294163_S,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151141294,151141294,G,A,P294163_S,SCNM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCNM1;TNFAIP8L2-SCNM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167025119,167025119,G,A,P294163_S,GPA33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPA33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168161478,168161478,C,T,P294163_S,TIPRL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TIPRL,NM_001031800:c.*12C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228129134,228129134,C,T,P294163_S,WNT9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNT9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38797166,38797166,C,T,P294163_S,HNRNPLL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPLL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74230324,74230324,C,T,P294163_S,TET3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TET3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85893646,85893646,C,G,P294163_S,SFTPB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFTPB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206481651,206481651,A,G,P294163_S,PARD3B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PARD3B,NM_152526:c.*1114A>G;NM_001302769:c.*1114A>G;NM_057177:c.*1114A>G;NM_205863:c.*1114A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215884214,215884214,A,G,P294163_S,ABCA12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231741475,231741475,A,G,P294163_S,ITM2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITM2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241512010,241512010,C,T,P294163_S,RNPEPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNPEPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241682445,241682445,C,T,P294163_S,KIF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42742197,42742197,G,A,P294163_S,HHATL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHATL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53145767,53145767,T,G,P294163_S,RFT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,62455426,62455426,G,A,P294163_S,CADPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3427308,3427308,G,A,P294163_S,RGS12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3494401,3494401,C,A,P294163_S,DOK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25161850,25161850,G,A,P294163_S,SEPSECS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPSECS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25930941,25930941,G,C,P294163_S,SMIM20,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SMIM20,NM_001145432:c.*128G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73933707,73933707,A,G,P294163_S,COX18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78979275,78979275,C,T,P294163_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79350218,79350218,C,G,P294163_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100203908,100203908,G,A,P294163_S,LOC100507053,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100507053,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119461571,119461571,C,T,P294163_S,CEP170P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CEP170P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,187129889,187129889,G,A,P294163_S,CYP4V2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4V2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190874281,190874281,G,T,P294163_S,FRG1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FRG1,NM_004477:exon4:c.317+1G>T,NA,NA,.,.,D,.,.,.
chr5,878665,878665,C,T,P294163_S,BRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1216641,1216641,G,A,P294163_S,SLC6A19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,41928725,41928725,T,C,P294163_S,FBXO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43294004,43294004,T,C,P294163_S,HMGCS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGCS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127483540,127483540,A,G,P294163_S,SLC12A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149653071,149653071,G,A,P294163_S,CAMK2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156734665,156734665,A,G,P294163_S,CYFIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176516968,176516968,C,T,P294163_S,FGFR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGFR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33608098,33608098,C,T,P294163_S,ITPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623922,55623922,T,C,P294163_S,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,76617511,76617511,A,G,P294163_S,MYO6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135839626,135839626,C,T,P294163_S,LINC00271,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00271,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4169500,4169500,C,T,P294163_S,LOC105375131,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC105375131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38281900,38281900,G,A,P294163_S,STARD3NL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,STARD3NL;TARP,dist=11630;dist=17344,NA,NA,NA,NA,NA,NA,NA,NA
chr7,80286060,80286060,T,C,P294163_S,CD36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102212747,102212747,A,G,P294163_S,POLR2J3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2J3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128119168,128119168,T,C,P294163_S,METTL2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141785895,141785895,T,C,P294163_S,MGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142120201,142120201,G,C,P294163_S,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=148133;dist=37141,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142612594,142612594,C,T,P294163_S,TRPV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41557095,41557095,C,T,P294163_S,ANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100519303,100519303,T,C,P294163_S,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,13196320,13196320,G,A,P294163_S,MPDZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPDZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,94711981,94711981,G,A,P294163_S,ROR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127995811,127995811,C,T,P294163_S,RABEPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABEPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136550504,136550504,C,T,P294163_S,SARDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SARDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140946687,140946687,C,T,P294163_S,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,16824260,16824260,A,G,P294163_S,RSU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,51464832,51464832,G,A,P294163_S,AGAP7P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AGAP7P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,81266599,81266599,A,C,P294163_S,LOC729815,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC729815,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104660612,104660612,A,G,P294163_S,BORCS7-ASMT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,BORCS7-ASMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2017851,2017851,G,A,P294163_S,H19,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,H19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6568911,6568911,G,A,P294163_S,DNHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65803166,65803166,G,A,P294163_S,CATSPER1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CATSPER1;GAL3ST3,dist=9216;dist=5070,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67490615,67490615,G,A,P294163_S,ALDH3B2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ALDH3B2;FAM86C2P,dist=41920;dist=68623,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68509902,68509902,C,T,P294163_S,TESMIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TESMIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70789094,70789094,G,A,P294163_S,SHANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76901624,76901624,A,G,P294163_S,MYO7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130103878,130103878,T,G,P294163_S,ZBTB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB44,NM_014155:c.*280A>C;NM_001370219:c.*8A>C;NM_001370220:c.*8A>C;NM_001370221:c.*280A>C;NM_001370222:c.*8A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,987549,987549,A,T,P294163_S,WNK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72287230,72287230,G,A,P294163_S,TBC1D15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94034645,94034645,G,A,P294163_S,SOCS2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SOCS2;CRADD,dist=64124;dist=36502,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94631615,94631615,G,A,P294163_S,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96350453,96350453,G,A,P294163_S,AMDHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMDHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102069236,102069236,C,A,P294163_S,MYBPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74538598,74538598,C,T,P294163_S,ALDH6A1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ALDH6A1,NM_005589:exon5:c.427+1G>A;NM_001278593:exon5:c.388+1G>A;NM_001278594:exon5:UTR5,NA,NA,.,.,D,.,.,.
chr14,101492598,101492598,C,T,P294163_S,MIR329-1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR329-1;MIR329-2;MIR1197;MIR323A;MIR758,dist=524;dist=154,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25453371,25453371,G,A,P294163_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14;SNORD115-21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,70987539,70987539,G,A,P294163_S,UACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81427716,81427716,T,A,P294163_S,CFAP161,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP161,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81427723,81427723,C,T,P294163_S,CFAP161,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP161,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81614630,81614630,C,T,P294163_S,STARD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STARD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91161038,91161038,T,C,P294163_S,CRTC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRTC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28943289,28943289,G,A,P294163_S,CD19,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CD19,NM_001770:c.-33G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,47462590,47462590,C,T,P294163_S,ITFG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITFG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816454,50816454,C,T,P294163_S,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816460,50816460,A,T,P294163_S,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,54319559,54319559,G,A,P294163_S,IRX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58705999,58705999,C,T,P294163_S,SLC38A7,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SLC38A7,NM_018231:exon9:c.1031+1G>A;NM_001369611:exon8:c.1031+1G>A;NM_001369608:exon9:c.1031+1G>A;NM_001369609:exon8:c.1031+1G>A,NA,NA,.,.,D,.,.,.
chr17,8638625,8638625,T,G,P294163_S,CCDC42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8638633,8638633,A,G,P294163_S,CCDC42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843764,29843764,C,T,P294163_S,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40489939,40489939,T,G,P294163_S,STAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42337431,42337431,C,T,P294163_S,SLC4A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21118656,21118656,G,A,P294163_S,NPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,34901757,34901757,G,T,P294163_S,CELF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1805248,1805248,C,A,P294163_S,ATP8B3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15366408,15366408,G,A,P294163_S,BRD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16770754,16770754,G,A,P294163_S,SMIM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMIM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44345044,44345044,T,C,P294163_S,ZNF283,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF283,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45858910,45858910,C,T,P294163_S,TRPM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20739069,20739069,G,A,P294163_S,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=32285;dist=9336,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40078442,40078442,C,T,P294163_S,CACNA1I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50636200,50636200,C,T,P294163_S,TRABD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRABD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,79699250,79699250,A,T,P294163_S,TENT5D,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TENT5D,NM_001170574:c.*42A>T;NM_152630:c.*42A>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100912645,100912645,G,A,P294163_S,ARMCX2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ARMCX2,NM_001282231:c.-71C>T;NM_014782:c.-71C>T;NM_177949:c.-71C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,105570903,105570903,T,C,P294163_S,PWWP3B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PWWP3B;RADX,dist=117954;dist=284257,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12954546,12954546,T,A,P299664_F,PRAMEF4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRAMEF4;PRAMEF8,dist=8521;dist=21921,NA,NA,T,N,N,T,N,T
chr1,16903964,16903964,T,G,P299664_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19071199,19071199,G,A,P299664_F,PAX7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAX7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51787352,51787352,G,A,P299664_F,TTC39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94041825,94041825,G,A,P299664_F,BCAR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100195127,100195127,C,T,P299664_F,FRRS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRRS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103548572,103548572,T,A,P299664_F,COL11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145323614,145323614,A,G,P299664_F,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157652978,157652978,G,A,P299664_F,FCRL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168549565,168549565,T,C,P299664_F,XCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202464380,202464380,G,T,P299664_F,PPP1R12B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,15736810,15736810,T,G,P299664_F,DDX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,90044392,90044392,G,T,P299664_F,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;LOC107985911,dist=932424;dist=1760791,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91943967,91943967,A,G,P299664_F,LOC101927050,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101927050;GGT8P,dist=43831;dist=19401,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111859438,111859438,T,A,P299664_F,ACOXL-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ACOXL-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,169814468,169814468,A,G,P299664_F,ABCB11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42235469,42235469,C,T,P299664_F,TRAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108096334,108096334,A,G,P299664_F,HHLA2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HHLA2,NM_001282556:c.*209A>G;NM_001282559:c.*209A>G;NM_001282558:c.*209A>G;NM_001370244:c.*209A>G;NM_007072:c.*209A>G;NM_001282557:c.*209A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164709923,164709923,G,A,P299664_F,SI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,23826034,23826034,G,A,P299664_F,PPARGC1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPARGC1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71069075,71069075,A,G,P299664_F,ODAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ODAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77816602,77816602,T,C,P299664_F,SOWAHB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SOWAHB,NM_001029870:c.*19A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70072565,70072565,C,A,P299664_F,LOC101929599,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101929599,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,102309792,102309792,G,A,P299664_F,PAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178585699,178585699,G,T,P299664_F,ADAMTS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,11714854,11714854,C,G,P299664_F,ADTRP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADTRP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26156588,26156588,C,G,P299664_F,HIST1H1E,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HIST1H1E,NM_005321:c.-31C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr6,72892865,72892865,C,T,P299664_F,RIMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,137329662,137329662,G,T,P299664_F,IL20RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL20RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160133587,160133587,T,C,P299664_F,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,33390642,33390642,T,C,P299664_F,BBS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151971015,151971015,G,A,P299664_F,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95060260,95060260,G,A,P299664_F,NOL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,128510660,128510660,G,C,P299664_F,PBX3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PBX3,NM_001134778:c.-194G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5006142,5006142,C,T,P299664_F,AKR1C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,25231213,25231213,G,C,P299664_F,PRTFDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRTFDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,35805352,35805352,T,C,P299664_F,CCNY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98808616,98808616,G,A,P299664_F,SLIT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49208333,49208333,G,A,P299664_F,FOLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64510378,64510378,C,T,P299664_F,RASGRP2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RASGRP2,NM_001098670:c.-40G>A;NM_153819:c.-40G>A;NM_001318398:c.-2807G>A;NM_001098671:c.-40G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94349658,94349658,G,A,P299664_F,PIWIL4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PIWIL4,NM_152431:exon16:c.1944-1G>A,NA,NA,.,.,D,.,.,.
chr12,9447029,9447029,T,C,P299664_F,LOC642846,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC642846,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31241839,31241839,T,C,P299664_F,DDX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80752598,80752598,A,T,P299664_F,OTOGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,70936840,70936840,C,T,P299664_F,ADAM20P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ADAM20P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,32607256,32607256,A,G,P299664_F,CHRNA7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CHRNA7;GOLGA8K,dist=142037;dist=74530,NA,NA,NA,NA,NA,NA,NA,NA
chr15,73428217,73428217,T,C,P299664_F,NEO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75561253,75561253,G,A,P299664_F,GOLGA6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102513400,102513400,G,T,P299664_F,WASH3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,WASH3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31429974,31429974,G,A,P299664_F,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57771339,57771339,A,G,P299664_F,KATNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KATNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,77243281,77243281,T,C,P299664_F,SYCE1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCE1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72771753,72771753,A,T,P299664_F,NAT9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NAT9,NM_001305087:c.-11T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr18,5424378,5424378,T,C,P299664_F,EPB41L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6825241,6825241,T,C,P299664_F,VAV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11426764,11426764,T,G,P299664_F,TSPAN16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49540037,49540037,C,T,P299664_F,CGB1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CGB1,NM_033377:c.-69G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1458764,1458764,A,G,P299664_F,SIRPB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRPB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909652,10909652,G,A,P299664_F,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909683,10909683,T,C,P299664_F,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10919969,10919969,C,G,P299664_F,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46392916,46392916,G,A,P299664_F,FAM207A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM207A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20710406,20710406,C,T,P299664_F,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=3622;dist=37999,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22985902,22985902,A,C,P299664_F,POM121L1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,POM121L1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39125460,39125460,C,T,P299664_F,GTPBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,31227586,31227586,C,T,P299664_F,DMD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16748541,16748541,G,A,P299664_S,SPATA21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16903964,16903964,T,G,P299664_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16945570,16945570,A,G,P299664_S,CROCCP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CROCCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17565271,17565271,C,T,P299664_S,PADI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PADI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41237422,41237422,A,G,P299664_S,NFYC,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,NFYC,dist=146,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51787352,51787352,G,A,P299664_S,TTC39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,71328120,71328120,G,T,P299664_S,PTGER3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGER3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94041825,94041825,G,A,P299664_S,BCAR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100195127,100195127,C,T,P299664_S,FRRS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRRS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103548572,103548572,T,A,P299664_S,COL11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144823733,144823733,T,C,P299664_S,NBPF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF19;NBPF20;NBPF8;NBPF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144823744,144823744,A,T,P299664_S,NBPF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF19;NBPF20;NBPF8;NBPF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145293059,145293059,A,G,P299664_S,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145293069,145293069,A,T,P299664_S,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145323614,145323614,A,G,P299664_S,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148902312,148902312,G,A,P299664_S,DRD5P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DRD5P2;LOC101060524,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157652978,157652978,G,A,P299664_S,FCRL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202464380,202464380,G,T,P299664_S,PPP1R12B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,18765199,18765199,A,G,P299664_S,NT5C1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5C1B;NT5C1B-RDH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,90044392,90044392,G,T,P299664_S,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;LOC107985911,dist=932424;dist=1760791,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91873845,91873845,G,A,P299664_S,LOC107985911,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC107985911;LOC101927050,dist=25795;dist=13869,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91943967,91943967,A,G,P299664_S,LOC101927050,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101927050;GGT8P,dist=43831;dist=19401,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107042620,107042620,C,T,P299664_S,RGPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111859438,111859438,T,A,P299664_S,ACOXL-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ACOXL-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114346800,114346800,C,G,P299664_S,WASH2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,WASH2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42235469,42235469,C,T,P299664_S,TRAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108096334,108096334,A,G,P299664_S,HHLA2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HHLA2,NM_001282556:c.*209A>G;NM_001282559:c.*209A>G;NM_001282558:c.*209A>G;NM_001370244:c.*209A>G;NM_007072:c.*209A>G;NM_001282557:c.*209A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122630958,122630958,C,T,P299664_S,SEMA5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164709923,164709923,G,A,P299664_S,SI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77816602,77816602,T,C,P299664_S,SOWAHB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SOWAHB,NM_001029870:c.*19A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,21842169,21842169,C,G,P299664_S,CDH12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68491733,68491733,T,C,P299664_S,CENPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70072565,70072565,C,A,P299664_S,LOC101929599,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101929599,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75581381,75581381,C,T,P299664_S,SV2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SV2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178551876,178551876,G,T,P299664_S,ADAMTS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26156588,26156588,C,G,P299664_S,HIST1H1E,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HIST1H1E,NM_005321:c.-31C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47675868,47675868,T,C,P299664_S,ADGRF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,72892865,72892865,C,T,P299664_S,RIMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,33390642,33390642,T,C,P299664_S,BBS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100780769,100780769,C,T,P299664_S,SERPINE1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SERPINE1,NM_000602:c.*46C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12291486,12291486,G,C,P299664_S,FAM86B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM86B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95060260,95060260,G,A,P299664_S,NOL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,117027109,117027109,C,T,P299664_S,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,128510660,128510660,G,C,P299664_S,PBX3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PBX3,NM_001134778:c.-194G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr10,25231213,25231213,G,C,P299664_S,PRTFDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRTFDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,35805352,35805352,T,C,P299664_S,CCNY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75436452,75436452,G,C,P299664_S,BMS1P4-AGAP5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BMS1P4-AGAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98808616,98808616,G,A,P299664_S,SLIT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102307983,102307983,A,G,P299664_S,HIF1AN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HIF1AN,NM_017902:c.*89A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64510378,64510378,C,T,P299664_S,RASGRP2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RASGRP2,NM_001098670:c.-40G>A;NM_153819:c.-40G>A;NM_001318398:c.-2807G>A;NM_001098671:c.-40G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94349658,94349658,G,A,P299664_S,PIWIL4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PIWIL4,NM_152431:exon16:c.1944-1G>A,NA,NA,.,.,D,.,.,.
chr11,101946813,101946813,T,A,P299664_S,CFAP300,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CFAP300,NM_001195005:c.*178T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58177322,58177322,T,A,P299664_S,TSFM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSFM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64609906,64609906,A,T,P299664_S,C12orf66,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf66,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,95390612,95390612,T,A,P299664_S,NDUFA12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFA12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,115110251,115110251,T,G,P299664_S,TBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114507703,114507703,C,G,P299664_S,TMEM255B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM255B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20002077,20002077,C,A,P299664_S,POTEM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,70936840,70936840,C,T,P299664_S,ADAM20P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ADAM20P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,51294647,51294647,T,C,P299664_S,AP4E1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP4E1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85785292,85785292,A,G,P299664_S,GOLGA6L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA6L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101434093,101434093,G,A,P299664_S,LOC101927751,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101927751,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,710608,710608,G,A,P299664_S,WDR90,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR90,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31429974,31429974,G,A,P299664_S,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57771339,57771339,A,G,P299664_S,KATNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KATNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71103419,71103419,T,C,P299664_S,HYDIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,77243281,77243281,T,C,P299664_S,SYCE1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCE1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,25973640,25973640,A,G,P299664_S,LGALS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41256087,41256087,G,A,P299664_S,BRCA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRCA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72771753,72771753,A,T,P299664_S,NAT9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NAT9,NM_001305087:c.-11T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr18,5424378,5424378,T,C,P299664_S,EPB41L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,72672501,72672501,C,G,P299664_S,ZNF407,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF407,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,72672815,72672815,A,G,P299664_S,ZNF407,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF407,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11426764,11426764,T,G,P299664_S,TSPAN16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49540037,49540037,C,T,P299664_S,CGB1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CGB1,NM_033377:c.-69G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53802380,53802380,C,T,P299664_S,BIRC8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,BIRC8;ZNF845,dist=7693;dist=34592,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56662164,56662164,A,G,P299664_S,ZNF444,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF444,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29623957,29623957,C,G,P299664_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909652,10909652,G,A,P299664_S,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909683,10909683,T,C,P299664_S,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37734559,37734559,A,T,P299664_S,MORC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20710406,20710406,C,T,P299664_S,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=3622;dist=37999,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21365668,21365668,A,G,P299664_S,TUBA3FP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TUBA3FP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39125460,39125460,C,T,P299664_S,GTPBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,8507694,8507694,C,T,P299664_S,ANOS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANOS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3732976,3732976,G,A,P305087_F,CEP104,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,4847750,4847750,T,C,P305087_F,AJAP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AJAP1,NM_018836:c.*5205T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15779408,15779408,A,C,P305087_F,CTRC,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CTRC;CELA2A,dist=3671;dist=3819,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893603,16893603,T,C,P305087_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19237971,19237971,C,T,P305087_F,IFFO2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,IFFO2,NM_001136265:exon7:c.1225-1G>A,NA,NA,.,.,D,.,.,.
chr1,23337832,23337832,C,T,P305087_F,TEX46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35455822,35455822,T,C,P305087_F,ZMYM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70385254,70385254,C,T,P305087_F,PIN1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIN1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148023204,148023204,T,A,P305087_F,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151111318,151111318,T,C,P305087_F,SEMA6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151143673,151143673,T,C,P305087_F,TMOD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMOD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154155735,154155735,C,T,P305087_F,TPM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173961872,173961872,G,T,P305087_F,RC3H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RC3H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223815605,223815605,C,T,P305087_F,CAPN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224922206,224922206,C,T,P305087_F,CNIH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNIH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226046800,226046800,C,T,P305087_F,TMEM63A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM63A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,241936055,241936055,A,G,P305087_F,WDR64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,243220216,243220216,A,G,P305087_F,LINC01347,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01347,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27702107,27702107,T,C,P305087_F,IFT172,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT172,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37374743,37374743,A,G,P305087_F,EIF2AK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2AK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69205941,69205941,C,A,P305087_F,GKN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GKN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73457354,73457354,G,A,P305087_F,PRADC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRADC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80808578,80808578,T,C,P305087_F,CTNNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98341216,98341216,C,T,P305087_F,ZAP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107042620,107042620,C,T,P305087_F,RGPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113592948,113592948,G,A,P305087_F,IL1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113890135,113890135,G,T,P305087_F,IL1RN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,133483143,133483143,A,G,P305087_F,NCKAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206481651,206481651,A,G,P305087_F,PARD3B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PARD3B,NM_152526:c.*1114A>G;NM_001302769:c.*1114A>G;NM_057177:c.*1114A>G;NM_205863:c.*1114A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231258096,231258096,C,T,P305087_F,SP140L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39170197,39170197,G,C,P305087_F,TTC21A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52773420,52773420,C,A,P305087_F,NEK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113005755,113005755,A,T,P305087_F,BOC,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BOC,NM_033254:c.*46A>T;NM_001301861:c.*46A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,118935302,118935302,C,T,P305087_F,B4GALT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,120130591,120130591,G,C,P305087_F,FSTL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183586018,183586018,C,T,P305087_F,PARL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184084316,184084316,T,C,P305087_F,POLR2H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4207542,4207542,G,C,P305087_F,OTOP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,70806853,70806853,C,A,P305087_F,CSN1S1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSN1S1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100485176,100485176,C,A,P305087_F,TRMT10A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TRMT10A,NM_001134665:c.-4681G>T;NM_001134666:c.-4681G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,121631395,121631395,T,C,P305087_F,PRDM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,153884135,153884135,A,G,P305087_F,FHDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166235426,166235426,A,T,P305087_F,KLHL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,185735951,185735951,T,C,P305087_F,ACSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,163674,163674,C,T,P305087_F,PLEKHG4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10618732,10618732,C,T,P305087_F,ANKRD33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,21481733,21481733,T,C,P305087_F,GUSBP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUSBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32782826,32782826,C,T,P305087_F,NPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34190587,34190587,C,G,P305087_F,LOC646652,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC646652,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54439543,54439543,G,A,P305087_F,CDC20B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC20B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,73153413,73153413,T,C,P305087_F,ARHGEF28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76170996,76170996,T,G,P305087_F,S100Z,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,S100Z,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,125971617,125971617,T,G,P305087_F,TEX43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150853469,150853469,T,C,P305087_F,SLC36A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC36A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180058555,180058555,C,T,P305087_F,FLT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27834486,27834486,G,A,P305087_F,HIST1H1B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HIST1H1B;HIST1H2AL,dist=84,NA,NA,NA,NA,NA,NA,NA,NA
chr6,28265778,28265778,C,T,P305087_F,PGBD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGBD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623922,55623922,T,C,P305087_F,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57472303,57472303,T,C,P305087_F,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22985826,22985826,A,C,P305087_F,FAM126A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM126A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92116713,92116713,C,G,P305087_F,PEX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PEX1,NM_001282677:c.*58G>C;NM_001282678:c.*58G>C;NM_000466:c.*58G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127729869,127729869,T,C,P305087_F,SND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142120201,142120201,G,C,P305087_F,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=148133;dist=37141,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142223845,142223845,T,C,P305087_F,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=66427;dist=150286,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150721657,150721657,G,A,P305087_F,ATG9B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ATG9B,dist=71,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152497505,152497505,G,T,P305087_F,ACTR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152497540,152497540,A,T,P305087_F,ACTR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,3224480,3224480,C,A,P305087_F,CSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6679329,6679329,C,A,P305087_F,XKR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XKR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12236210,12236210,A,T,P305087_F,FAM66A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM66A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25190222,25190222,C,T,P305087_F,DOCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,53076778,53076778,C,T,P305087_F,ST18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,85833365,85833365,G,A,P305087_F,RALYL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RALYL,NM_001354325:c.*219G>A;NM_001100392:c.*219G>A;NM_001100393:c.*219G>A;NM_001287243:c.*219G>A;NM_001354305:c.*219G>A;NM_001354306:c.*219G>A;NM_001354307:c.*219G>A;NM_001354309:c.*219G>A;NM_001354310:c.*219G>A;NM_001354311:c.*214G>A;NM_001354312:c.*219G>A;NM_001354313:c.*214G>A;NM_001354314:c.*219G>A;NM_001354315:c.*219G>A;NM_001354316:c.*219G>A;NM_001354317:c.*219G>A;NM_001354318:c.*219G>A;NM_001354319:c.*214G>A;NM_001354320:c.*219G>A;NM_173848:c.*219G>A;NM_001100391:c.*219G>A;NM_001354321:c.*219G>A;NM_001354322:c.*214G>A;NM_001354323:c.*214G>A;NM_001354308:c.*219G>A;NM_001287244:c.*219G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35718451,35718451,G,C,P305087_F,TLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66553512,66553512,C,G,P305087_F,LERFS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LERFS;LOC728673,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415343,68415343,A,G,P305087_F,MIR4477A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4477A;MIR4477B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75527079,75527079,C,T,P305087_F,ALDH1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130162172,130162172,C,T,P305087_F,SLC2A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131586978,131586978,G,A,P305087_F,SPOUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPOUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,285864,285864,C,T,P305087_F,ZMYND11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYND11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,47086684,47086684,G,T,P305087_F,NPY4R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPY4R;NPY4R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95161549,95161549,C,T,P305087_F,MYOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102265084,102265084,A,C,P305087_F,SEC31B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC31B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105802083,105802083,C,T,P305087_F,COL17A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL17A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1095036,1095036,C,T,P305087_F,MUC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1282957,1282957,C,T,P305087_F,MUC5B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MUC5B,NM_002458:c.*119C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17581270,17581270,C,T,P305087_F,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49898043,49898043,A,G,P305087_F,LOC440040,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC440040;OR4C13,dist=66074;dist=75900,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63970921,63970921,G,A,P305087_F,STIP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,STIP1,NM_001282652:exon13:c.1528-1G>A;NM_001282653:exon13:c.1315-1G>A;NM_006819:exon13:c.1387-1G>A,NA,NA,.,.,D,.,.,.
chr11,82951642,82951642,A,G,P305087_F,ANKRD42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113142465,113142465,C,A,P305087_F,NCAM1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NCAM1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119291866,119291866,G,A,P305087_F,USP2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,USP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125851255,125851255,G,A,P305087_F,CDON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130103878,130103878,T,G,P305087_F,ZBTB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB44,NM_014155:c.*280A>C;NM_001370219:c.*8A>C;NM_001370220:c.*8A>C;NM_001370221:c.*280A>C;NM_001370222:c.*8A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7818513,7818513,C,T,P305087_F,APOBEC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66236328,66236328,A,T,P305087_F,HMGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72312106,72312106,G,A,P305087_F,TBC1D15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104015733,104015733,A,T,P305087_F,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104015734,104015734,A,T,P305087_F,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110454291,110454291,G,A,P305087_F,ANKRD13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111744949,111744949,G,A,P305087_F,CUX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123694575,123694575,G,A,P305087_F,MPHOSPH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53034867,53034867,A,G,P305087_F,CKAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111996384,111996384,T,A,P305087_F,TEX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,112763221,112763221,G,A,P305087_F,SOX1-OT,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,SOX1-OT,dist=892,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20002179,20002179,A,C,P305087_F,POTEM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,55847277,55847277,C,T,P305087_F,ATG14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93273381,93273381,G,A,P305087_F,GOLGA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42374318,42374318,T,C,P305087_F,PLA2G4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,76668365,76668365,G,A,P305087_F,SCAPER,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAPER,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84839142,84839142,G,A,P305087_F,DNM1P41,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DNM1P41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90432237,90432237,T,G,P305087_F,AP3S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3S2;ARPIN-AP3S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101827707,101827707,G,A,P305087_F,SNRPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4810338,4810338,G,A,P305087_F,ZNF500,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF500,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15221651,15221651,A,C,P305087_F,PKD1P6-NPIPP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PKD1P6-NPIPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30205935,30205935,C,T,P305087_F,SLX1A-SULT1A3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SLX1A-SULT1A3;SLX1B-SULT1A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32930921,32930921,C,T,P305087_F,SLC6A10P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC6A10P;TP53TG3,dist=34458;dist=274662,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816454,50816454,C,T,P305087_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816460,50816460,A,T,P305087_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74425139,74425139,C,T,P305087_F,NPIPB15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPIPB15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,85704821,85704821,C,T,P305087_F,GSE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,90000346,90000346,T,C,P305087_F,TUBB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8132776,8132776,C,T,P305087_F,CTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,21731342,21731342,G,A,P305087_F,UBBP4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,UBBP4,NA,NA,NA,.,.,D,T,.,.
chr17,29276549,29276549,A,G,P305087_F,ADAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37648942,37648942,A,G,P305087_F,CDK12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39634046,39634046,A,C,P305087_F,KRT35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46023576,46023576,C,T,P305087_F,PNPO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,53844565,53844565,T,C,P305087_F,PCTP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCTP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73780539,73780539,T,C,P305087_F,UNK,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,UNK;MIR4738,dist=63;dist=63,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79818125,79818125,C,T,P305087_F,P4HB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P4HB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,9587935,9587935,C,G,P305087_F,PPP4R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP4R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22782549,22782549,G,C,P305087_F,GOLGA2P9,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GOLGA2P9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38835170,38835170,G,A,P305087_F,CATSPERG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45185822,45185822,G,A,P305087_F,CEACAM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48972698,48972698,G,A,P305087_F,CYTH2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CYTH2,NM_017457:c.-67G>A;NM_004228:c.-67G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55685665,55685665,C,T,P305087_F,SYT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56662164,56662164,A,G,P305087_F,ZNF444,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF444,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58787582,58787582,C,T,P305087_F,ZNF544,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF544,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29624046,29624046,C,T,P305087_F,FRG1DP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRG1DP,NA,NA,NA,D,D,D,.,D,T
chr20,42199743,42199743,A,G,P305087_F,SGK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50781771,50781771,T,C,P305087_F,ZFP64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,58646029,58646029,G,A,P305087_F,C20orf197,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C20orf197,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34537838,34537838,A,T,P305087_F,LINC01548,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01548,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40762505,40762505,C,T,P305087_F,GET1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GET1;WRB-SH3BGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,41029743,41029743,A,G,P305087_F,B3GALT5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,B3GALT5,NM_033172:c.-66A>G;NM_033171:c.-2744A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47613567,47613567,C,G,P305087_F,LSS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25246400,25246400,G,A,P305087_F,SGSM1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SGSM1,NM_001098498:exon5:c.455+1G>A;NM_001039948:exon5:c.455+1G>A;NM_001098497:exon5:c.455+1G>A;NM_133454:exon5:c.455+1G>A,NA,NA,.,.,D,.,.,.
chr22,25316053,25316053,A,G,P305087_F,SGSM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32579720,32579720,T,C,P305087_F,C22orf42,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,C22orf42;RFPL2,dist=24430;dist=6702,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37531274,37531274,A,G,P305087_F,IL2RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38617723,38617723,G,A,P305087_F,TMEM184B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM184B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,20204340,20204340,A,G,P305087_F,RPS6KA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,38482299,38482299,T,A,P305087_F,TSPAN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41437782,41437782,C,T,P305087_F,CASK,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CASK,NM_001126055:exon14:c.1297-1G>A;NM_001367721:exon15:c.1315-1G>A;NM_001126054:exon15:c.1315-1G>A;NM_003688:exon15:c.1315-1G>A,NA,NA,.,.,D,.,.,.
chrX,49030809,49030809,G,A,P305087_F,PLP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73065181,73065181,A,G,P305087_F,XIST,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,101097639,101097639,T,C,P305087_F,NXF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NXF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,131518608,131518608,C,T,P305087_F,RAP2C-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RAP2C-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,144329309,144329309,G,A,P305087_F,SPANXN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPANXN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,154130473,154130473,T,A,P305087_F,F8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,139430,139430,A,G,P305087_F1,LOC729737,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC729737,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1636209,1636209,A,G,P305087_F1,CDK11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11A;CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1749346,1749346,C,T,P305087_F1,GNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3732976,3732976,G,A,P305087_F1,CEP104,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17085908,17085908,C,G,P305087_F1,LOC102724562,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724562,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19237971,19237971,C,T,P305087_F1,IFFO2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,IFFO2,NM_001136265:exon7:c.1225-1G>A,NA,NA,.,.,D,.,.,.
chr1,70385254,70385254,C,T,P305087_F1,PIN1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIN1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148023204,148023204,T,A,P305087_F1,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151143673,151143673,T,C,P305087_F1,TMOD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMOD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155719467,155719467,G,T,P305087_F1,MSTO2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MSTO2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223815605,223815605,C,T,P305087_F1,CAPN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224600919,224600919,C,A,P305087_F1,WDR26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69205941,69205941,C,A,P305087_F1,GKN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GKN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73457354,73457354,G,A,P305087_F1,PRADC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRADC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80808578,80808578,T,C,P305087_F1,CTNNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89092579,89092579,C,G,P305087_F1,ANKRD36BP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ANKRD36BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98341216,98341216,C,T,P305087_F1,ZAP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113890135,113890135,G,T,P305087_F1,IL1RN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851758,118851758,G,T,P305087_F1,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231258096,231258096,C,T,P305087_F1,SP140L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39170197,39170197,G,C,P305087_F1,TTC21A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183586018,183586018,C,T,P305087_F1,PARL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197349029,197349029,G,C,P305087_F1,LOC220729,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC220729,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4207542,4207542,G,C,P305087_F1,OTOP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,163674,163674,C,T,P305087_F1,PLEKHG4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10618732,10618732,C,T,P305087_F1,ANKRD33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,16764267,16764267,G,A,P305087_F1,MYO10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32782826,32782826,C,T,P305087_F1,NPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34190587,34190587,C,G,P305087_F1,LOC646652,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC646652,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54439543,54439543,G,A,P305087_F1,CDC20B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC20B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68928612,68928612,G,A,P305087_F1,GTF2H2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GTF2H2B;GUSBP3,dist=37557;dist=6678,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27834486,27834486,G,A,P305087_F1,HIST1H1B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HIST1H1B;HIST1H2AL,dist=84,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57472303,57472303,T,C,P305087_F1,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136582203,136582203,T,C,P305087_F1,BCLAF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BCLAF1,NM_001077441:c.*45A>G;NM_001363659:c.*45A>G;NM_014739:c.*45A>G;NM_001301038:c.*45A>G;NM_001077440:c.*45A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,36320658,36320658,G,A,P305087_F1,EEPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127729869,127729869,T,C,P305087_F1,SND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154989766,154989766,C,T,P305087_F1,HTR5A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HTR5A;INSIG1,dist=110664;dist=99716,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25190222,25190222,C,T,P305087_F1,DOCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35718451,35718451,G,C,P305087_F1,TLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75527079,75527079,C,T,P305087_F1,ALDH1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131586978,131586978,G,A,P305087_F1,SPOUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPOUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1095036,1095036,C,T,P305087_F1,MUC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1252071,1252071,C,G,P305087_F1,MUC5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17581270,17581270,C,T,P305087_F1,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63970921,63970921,G,A,P305087_F1,STIP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,STIP1,NM_001282652:exon13:c.1528-1G>A;NM_001282653:exon13:c.1315-1G>A;NM_006819:exon13:c.1387-1G>A,NA,NA,.,.,D,.,.,.
chr11,82951642,82951642,A,G,P305087_F1,ANKRD42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57487038,57487038,T,G,P305087_F1,NAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66236328,66236328,A,T,P305087_F1,HMGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104015733,104015733,A,T,P305087_F1,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104015734,104015734,A,T,P305087_F1,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111744949,111744949,G,A,P305087_F1,CUX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123694575,123694575,G,A,P305087_F1,MPHOSPH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111996384,111996384,T,A,P305087_F1,TEX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,55847277,55847277,C,T,P305087_F1,ATG14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94079669,94079669,T,A,P305087_F1,UNC79,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC79,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104135784,104135784,G,A,P305087_F1,KLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20776622,20776622,A,T,P305087_F1,GOLGA8CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GOLGA8CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90432237,90432237,T,G,P305087_F1,AP3S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3S2;ARPIN-AP3S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102297135,102297135,C,A,P305087_F1,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=10062;dist=48788,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30205935,30205935,C,T,P305087_F1,SLX1A-SULT1A3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SLX1A-SULT1A3;SLX1B-SULT1A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67314731,67314731,C,T,P305087_F1,PLEKHG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71732625,71732625,A,G,P305087_F1,PHLPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8132776,8132776,C,T,P305087_F1,CTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39634046,39634046,A,C,P305087_F1,KRT35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73780539,73780539,T,C,P305087_F1,UNK,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,UNK;MIR4738,dist=63;dist=63,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77231670,77231670,C,T,P305087_F1,RBFOX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,9815287,9815287,A,G,P305087_F1,RAB31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29412025,29412025,C,A,P305087_F1,TRAPPC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45185822,45185822,G,A,P305087_F1,CEACAM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48972698,48972698,G,A,P305087_F1,CYTH2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CYTH2,NM_017457:c.-67G>A;NM_004228:c.-67G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55685665,55685665,C,T,P305087_F1,SYT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56662164,56662164,A,G,P305087_F1,ZNF444,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF444,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58787582,58787582,C,T,P305087_F1,ZNF544,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF544,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50781771,50781771,T,C,P305087_F1,ZFP64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,58646029,58646029,G,A,P305087_F1,C20orf197,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C20orf197,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40762505,40762505,C,T,P305087_F1,GET1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GET1;WRB-SH3BGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,41029743,41029743,A,G,P305087_F1,B3GALT5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,B3GALT5,NM_033172:c.-66A>G;NM_033171:c.-2744A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17325233,17325233,G,T,P305087_F1,HSFY1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HSFY1P1;GAB4,dist=15008;dist=117593,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25246400,25246400,G,A,P305087_F1,SGSM1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SGSM1,NM_001098498:exon5:c.455+1G>A;NM_001039948:exon5:c.455+1G>A;NM_001098497:exon5:c.455+1G>A;NM_133454:exon5:c.455+1G>A,NA,NA,.,.,D,.,.,.
chr22,25316053,25316053,A,G,P305087_F1,SGSM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19039595,19039595,C,A,P305087_F1,ADGRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,38482299,38482299,T,A,P305087_F1,TSPAN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41437782,41437782,C,T,P305087_F1,CASK,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CASK,NM_001126055:exon14:c.1297-1G>A;NM_001367721:exon15:c.1315-1G>A;NM_001126054:exon15:c.1315-1G>A;NM_003688:exon15:c.1315-1G>A,NA,NA,.,.,D,.,.,.
chrX,49030809,49030809,G,A,P305087_F1,PLP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,154130473,154130473,T,A,P305087_F1,F8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3732976,3732976,G,A,P305087_S,CEP104,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7826645,7826645,G,A,P305087_S,CAMTA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAMTA1,NM_001349608:c.*94G>A;NM_015215:c.*94G>A;NM_001349610:c.*94G>A;NM_001349612:c.*94G>A;NM_001349609:c.*63G>A;NM_001349614:c.*63G>A;NM_001349620:c.*94G>A;NM_001349621:c.*63G>A;NM_001349623:c.*63G>A;NM_001349625:c.*94G>A;NM_001349617:c.*94G>A;NM_001349613:c.*63G>A;NM_001349619:c.*94G>A;NM_001349622:c.*63G>A;NM_001349616:c.*94G>A;NM_001349618:c.*94G>A;NM_001349615:c.*63G>A;NM_001349626:c.*94G>A;NM_001349624:c.*63G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11155766,11155766,G,A,P305087_S,EXOSC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892311,16892311,A,G,P305087_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19237971,19237971,C,T,P305087_S,IFFO2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,IFFO2,NM_001136265:exon7:c.1225-1G>A,NA,NA,.,.,D,.,.,.
chr1,45472830,45472830,T,G,P305087_S,HECTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46082137,46082137,T,C,P305087_S,NASP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NASP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70385254,70385254,C,T,P305087_S,PIN1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIN1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,107963850,107963850,A,G,P305087_S,NTNG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTNG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145038735,145038735,C,T,P305087_S,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,147580720,147580720,A,C,P305087_S,NBPF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF11;NBPF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148023204,148023204,T,A,P305087_S,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151143673,151143673,T,C,P305087_S,TMOD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMOD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156287417,156287417,C,T,P305087_S,CCT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160846766,160846766,A,G,P305087_S,ITLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202275945,202275945,G,A,P305087_S,LGR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223815605,223815605,C,T,P305087_S,CAPN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226046800,226046800,C,T,P305087_S,TMEM63A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM63A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230193672,230193672,C,T,P305087_S,GALNT2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GALNT2,NM_001291866:c.-142C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,243220197,243220197,C,G,P305087_S,LINC01347,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01347,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69205941,69205941,C,A,P305087_S,GKN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GKN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73457354,73457354,G,A,P305087_S,PRADC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRADC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98341216,98341216,C,T,P305087_S,ZAP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107042620,107042620,C,T,P305087_S,RGPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113890135,113890135,G,T,P305087_S,IL1RN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851758,118851758,G,T,P305087_S,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197792151,197792151,A,C,P305087_S,PGAP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PGAP1,dist=720,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231258096,231258096,C,T,P305087_S,SP140L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234678126,234678126,C,T,P305087_S,UGT1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGT1A1;UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39170197,39170197,G,C,P305087_S,TTC21A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46758836,46758836,C,T,P305087_S,PRSS50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48215641,48215641,C,A,P305087_S,CDC25A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC25A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49002554,49002554,G,A,P305087_S,ARIH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARIH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52833535,52833535,C,T,P305087_S,ITIH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130292692,130292692,A,T,P305087_S,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160942545,160942545,A,G,P305087_S,NMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183586018,183586018,C,T,P305087_S,PARL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3129421,3129421,G,T,P305087_S,HTT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4207542,4207542,G,C,P305087_S,OTOP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42583439,42583439,C,T,P305087_S,ATP8A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42583446,42583446,A,G,P305087_S,ATP8A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,163674,163674,C,T,P305087_S,PLEKHG4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10618732,10618732,C,T,P305087_S,ANKRD33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32782826,32782826,C,T,P305087_S,NPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54439543,54439543,G,A,P305087_S,CDC20B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC20B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,73153413,73153413,T,C,P305087_S,ARHGEF28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,83433038,83433038,T,C,P305087_S,EDIL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDIL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,138662128,138662128,A,T,P305087_S,MATR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MATR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140909408,140909408,C,T,P305087_S,DIAPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIAPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,172750144,172750144,C,T,P305087_S,STC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27834486,27834486,G,A,P305087_S,HIST1H1B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HIST1H1B;HIST1H2AL,dist=84,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42225865,42225865,T,C,P305087_S,TRERF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRERF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44150591,44150591,A,G,P305087_S,CAPN11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623922,55623922,T,C,P305087_S,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57472303,57472303,T,C,P305087_S,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57512352,57512352,A,T,P305087_S,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,149833229,149833229,C,T,P305087_S,PPIL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22985826,22985826,A,C,P305087_S,FAM126A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM126A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,35131648,35131648,G,A,P305087_S,DPY19L2P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DPY19L2P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44179348,44179348,C,T,P305087_S,MYL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,55910587,55910587,G,C,P305087_S,SEPTIN14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPTIN14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92116713,92116713,C,G,P305087_S,PEX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PEX1,NM_001282677:c.*58G>C;NM_001282678:c.*58G>C;NM_000466:c.*58G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100856514,100856514,C,T,P305087_S,PLOD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLOD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392911,107392911,C,G,P305087_S,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127729869,127729869,T,C,P305087_S,SND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138329766,138329766,A,C,P305087_S,SVOPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVOPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141643603,141643603,T,A,P305087_S,CLEC5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142120201,142120201,G,C,P305087_S,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=148133;dist=37141,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25190222,25190222,C,T,P305087_S,DOCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,77690746,77690746,A,C,P305087_S,ZFHX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFHX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104933013,104933013,C,T,P305087_S,RIMS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104933044,104933044,C,T,P305087_S,RIMS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,43624506,43624506,A,G,P305087_S,SPATA31A6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SPATA31A6,NM_001145196:c.*149T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415285,68415285,A,G,P305087_S,MIR4477B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4477B;LINC00537;MIR4477A,dist=23;dist=23,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415286,68415286,T,A,P305087_S,MIR4477B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4477B;LINC00537;MIR4477A,dist=22;dist=22,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75527079,75527079,C,T,P305087_S,ALDH1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127982467,127982467,T,C,P305087_S,RABEPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABEPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,129981113,129981113,G,A,P305087_S,RALGPS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RALGPS1,NM_001322324:c.*65G>A;NM_001322322:c.*65G>A;NM_001322321:c.*65G>A;NM_014636:c.*65G>A;NM_001366400:c.*65G>A;NM_001366401:c.*65G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131586978,131586978,G,A,P305087_S,SPOUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPOUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,47086684,47086684,G,T,P305087_S,NPY4R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPY4R;NPY4R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75672137,75672137,G,A,P305087_S,C10orf55,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C10orf55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1095036,1095036,C,T,P305087_S,MUC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17099336,17099336,C,T,P305087_S,RPS13,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RPS13,dist=122,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17581270,17581270,C,T,P305087_S,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18500084,18500084,A,G,P305087_S,LDHAL6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDHAL6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18500085,18500085,C,A,P305087_S,LDHAL6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDHAL6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63988275,63988275,C,T,P305087_S,FERMT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FERMT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72361972,72361972,T,C,P305087_S,PDE2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,82951642,82951642,A,G,P305087_S,ANKRD42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118629270,118629270,T,C,P305087_S,DDX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119992839,119992839,A,T,P305087_S,TRIM29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,123524262,123524262,G,T,P305087_S,SCN3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130103878,130103878,T,G,P305087_S,ZBTB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB44,NM_014155:c.*280A>C;NM_001370219:c.*8A>C;NM_001370220:c.*8A>C;NM_001370221:c.*280A>C;NM_001370222:c.*8A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7078800,7078800,C,T,P305087_S,PHB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27540104,27540104,C,T,P305087_S,ARNTL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66236328,66236328,A,T,P305087_S,HMGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,85440970,85440970,G,A,P305087_S,LRRIQ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRIQ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104015733,104015733,A,T,P305087_S,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104015734,104015734,A,T,P305087_S,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111744949,111744949,G,A,P305087_S,CUX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123694575,123694575,G,A,P305087_S,MPHOSPH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25020983,25020983,T,C,P305087_S,PARP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,36241800,36241800,G,A,P305087_S,NBEA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBEA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111996384,111996384,T,A,P305087_S,TEX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,112763221,112763221,G,A,P305087_S,SOX1-OT,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,SOX1-OT,dist=892,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113571212,113571212,G,A,P305087_S,ATP11A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ATP11A;MCF2L-AS1,dist=29730;dist=50586,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50068363,50068363,T,A,P305087_S,LRR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,55847277,55847277,C,T,P305087_S,ATG14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73006816,73006816,G,T,P305087_S,RGS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94554645,94554645,A,G,P305087_S,IFI27L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFI27L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95573779,95573779,A,G,P305087_S,DICER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DICER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106478183,106478183,G,T,P305087_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=39825;dist=266086,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42054091,42054091,C,G,P305087_S,MGA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,70987539,70987539,G,A,P305087_S,UACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,73542222,73542222,G,A,P305087_S,NEO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90432237,90432237,T,G,P305087_S,AP3S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3S2;ARPIN-AP3S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15761365,15761365,G,A,P305087_S,NDE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22157407,22157407,C,T,P305087_S,VWA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29610681,29610681,T,A,P305087_S,SMG1P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SMG1P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29842664,29842664,A,G,P305087_S,MVP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MVP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30205935,30205935,C,T,P305087_S,SLX1A-SULT1A3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SLX1A-SULT1A3;SLX1B-SULT1A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56226638,56226638,G,A,P305087_S,DKFZP434H168,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DKFZP434H168,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70863428,70863428,C,T,P305087_S,HYDIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,691434,691434,G,A,P305087_S,MRM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3833573,3833573,C,A,P305087_S,ATP2A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4210224,4210224,T,C,P305087_S,UBE2G1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2G1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8132776,8132776,C,T,P305087_S,CTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,32955950,32955950,G,A,P305087_S,TMEM132E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM132E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35939474,35939474,C,T,P305087_S,SYNRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38319668,38319668,C,G,P305087_S,CASC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39634046,39634046,A,C,P305087_S,KRT35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40820421,40820421,G,A,P305087_S,PLEKHH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48202226,48202226,G,A,P305087_S,SAMD14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMD14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58289507,58289507,T,C,P305087_S,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73780539,73780539,T,C,P305087_S,UNK,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,UNK;MIR4738,dist=63;dist=63,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79027601,79027601,C,T,P305087_S,BAIAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3083633,3083633,A,G,P305087_S,MYOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,56824837,56824837,T,C,P305087_S,SEC11C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC11C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1044435,1044435,T,C,P305087_S,ABCA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12140841,12140841,A,G,P305087_S,ZNF433-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF433-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22782549,22782549,G,C,P305087_S,GOLGA2P9,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GOLGA2P9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44782986,44782986,T,C,P305087_S,ZNF233,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF233;ZNF235,dist=3516;dist=7515,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45185822,45185822,G,A,P305087_S,CEACAM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48972698,48972698,G,A,P305087_S,CYTH2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CYTH2,NM_017457:c.-67G>A;NM_004228:c.-67G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53745485,53745485,G,A,P305087_S,ZNF677,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF677,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56662164,56662164,A,G,P305087_S,ZNF444,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF444,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58787582,58787582,C,T,P305087_S,ZNF544,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF544,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1436379,1436379,G,A,P305087_S,NSFL1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSFL1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29624012,29624012,T,A,P305087_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29624046,29624046,C,T,P305087_S,FRG1DP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRG1DP,NA,NA,NA,D,D,D,.,D,T
chr20,33500343,33500343,T,C,P305087_S,ACSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47867957,47867957,T,C,P305087_S,ZNFX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNFX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50781771,50781771,T,C,P305087_S,ZFP64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,58646029,58646029,G,A,P305087_S,C20orf197,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C20orf197,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38501214,38501214,C,T,P305087_S,TTC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40762505,40762505,C,T,P305087_S,GET1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GET1;WRB-SH3BGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,41029743,41029743,A,G,P305087_S,B3GALT5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,B3GALT5,NM_033172:c.-66A>G;NM_033171:c.-2744A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47674979,47674979,T,C,P305087_S,MCM3AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM3AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17325233,17325233,G,T,P305087_S,HSFY1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HSFY1P1;GAB4,dist=15008;dist=117593,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25246400,25246400,G,A,P305087_S,SGSM1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SGSM1,NM_001098498:exon5:c.455+1G>A;NM_001039948:exon5:c.455+1G>A;NM_001098497:exon5:c.455+1G>A;NM_133454:exon5:c.455+1G>A,NA,NA,.,.,D,.,.,.
chr22,30038479,30038479,A,G,P305087_S,NF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32833567,32833567,G,A,P305087_S,BPIFC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37697947,37697947,A,C,P305087_S,CYTH4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50548031,50548031,T,C,P305087_S,MOV10L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOV10L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,38482299,38482299,T,A,P305087_S,TSPAN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41437782,41437782,C,T,P305087_S,CASK,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CASK,NM_001126055:exon14:c.1297-1G>A;NM_001367721:exon15:c.1315-1G>A;NM_001126054:exon15:c.1315-1G>A;NM_003688:exon15:c.1315-1G>A,NA,NA,.,.,D,.,.,.
chrX,49030809,49030809,G,A,P305087_S,PLP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,131518608,131518608,C,T,P305087_S,RAP2C-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RAP2C-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,154130473,154130473,T,A,P305087_S,F8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1420366,1420366,C,T,P305087_S1,ATAD3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATAD3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3732976,3732976,G,A,P305087_S1,CEP104,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16388783,16388783,G,A,P305087_S1,FAM131C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM131C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19237971,19237971,C,T,P305087_S1,IFFO2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,IFFO2,NM_001136265:exon7:c.1225-1G>A,NA,NA,.,.,D,.,.,.
chr1,70385254,70385254,C,T,P305087_S1,PIN1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIN1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148023204,148023204,T,A,P305087_S1,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151143673,151143673,T,C,P305087_S1,TMOD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMOD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202275945,202275945,G,A,P305087_S1,LGR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,214497978,214497978,C,A,P305087_S1,SMYD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMYD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223815605,223815605,C,T,P305087_S1,CAPN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226046800,226046800,C,T,P305087_S1,TMEM63A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM63A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69205941,69205941,C,A,P305087_S1,GKN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GKN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73457354,73457354,G,A,P305087_S1,PRADC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRADC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80808578,80808578,T,C,P305087_S1,CTNNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,88125137,88125137,G,C,P305087_S1,RGPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD1;RGPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98341216,98341216,C,T,P305087_S1,ZAP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113890135,113890135,G,T,P305087_S1,IL1RN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,228118987,228118987,A,T,P305087_S1,LOC654841,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC654841,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231258096,231258096,C,T,P305087_S1,SP140L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39170197,39170197,G,C,P305087_S1,TTC21A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113005755,113005755,A,T,P305087_S1,BOC,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BOC,NM_033254:c.*46A>T;NM_001301861:c.*46A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,120130591,120130591,G,C,P305087_S1,FSTL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183586018,183586018,C,T,P305087_S1,PARL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195378267,195378267,T,G,P305087_S1,LOC105374297,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105374297,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4207542,4207542,G,C,P305087_S1,OTOP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,70806853,70806853,C,A,P305087_S1,CSN1S1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSN1S1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76711212,76711212,C,A,P305087_S1,USO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,163674,163674,C,T,P305087_S1,PLEKHG4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10618732,10618732,C,T,P305087_S1,ANKRD33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32782826,32782826,C,T,P305087_S1,NPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54439543,54439543,G,A,P305087_S1,CDC20B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC20B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27834486,27834486,G,A,P305087_S1,HIST1H1B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HIST1H1B;HIST1H2AL,dist=84,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57472303,57472303,T,C,P305087_S1,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72159832,72159832,A,T,P305087_S1,TYW1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127729869,127729869,T,C,P305087_S1,SND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154989766,154989766,C,T,P305087_S1,HTR5A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HTR5A;INSIG1,dist=110664;dist=99716,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25190222,25190222,C,T,P305087_S1,DOCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35718451,35718451,G,C,P305087_S1,TLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,43624506,43624506,A,G,P305087_S1,SPATA31A6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SPATA31A6,NM_001145196:c.*149T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr9,46843601,46843601,G,A,P305087_S1,LOC103908604,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LOC103908604;LOC103908605,dist=68,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75527079,75527079,C,T,P305087_S1,ALDH1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131586978,131586978,G,A,P305087_S1,SPOUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPOUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140218042,140218042,T,C,P305087_S1,EXD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,47086684,47086684,G,T,P305087_S1,NPY4R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPY4R;NPY4R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1095036,1095036,C,T,P305087_S1,MUC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1252071,1252071,C,G,P305087_S1,MUC5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17581270,17581270,C,T,P305087_S1,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22301424,22301424,T,C,P305087_S1,ANO5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANO5,NM_001142649:c.*113T>C;NM_213599:c.*113T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22301425,22301425,C,T,P305087_S1,ANO5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANO5,NM_001142649:c.*114C>T;NM_213599:c.*114C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63970921,63970921,G,A,P305087_S1,STIP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,STIP1,NM_001282652:exon13:c.1528-1G>A;NM_001282653:exon13:c.1315-1G>A;NM_006819:exon13:c.1387-1G>A,NA,NA,.,.,D,.,.,.
chr11,82951642,82951642,A,G,P305087_S1,ANKRD42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89448902,89448902,T,G,P305087_S1,TRIM77,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM77,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,123524262,123524262,G,T,P305087_S1,SCN3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,4716736,4716736,T,C,P305087_S1,DYRK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYRK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,59917281,59917281,C,G,P305087_S1,LRIG3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LRIG3;SLC16A7,dist=602962;dist=72529,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96180647,96180647,T,A,P305087_S1,NTN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104015733,104015733,A,T,P305087_S1,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104015734,104015734,A,T,P305087_S1,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111744949,111744949,G,A,P305087_S1,CUX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123694575,123694575,G,A,P305087_S1,MPHOSPH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50570540,50570540,T,G,P305087_S1,DLEU2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DLEU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111996384,111996384,T,A,P305087_S1,TEX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,55847277,55847277,C,T,P305087_S1,ATG14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94554645,94554645,A,G,P305087_S1,IFI27L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFI27L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42054091,42054091,C,G,P305087_S1,MGA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90432237,90432237,T,G,P305087_S1,AP3S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3S2;ARPIN-AP3S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29610681,29610681,T,A,P305087_S1,SMG1P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SMG1P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30205935,30205935,C,T,P305087_S1,SLX1A-SULT1A3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SLX1A-SULT1A3;SLX1B-SULT1A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3833573,3833573,C,A,P305087_S1,ATP2A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8132776,8132776,C,T,P305087_S1,CTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35939474,35939474,C,T,P305087_S1,SYNRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39634046,39634046,A,C,P305087_S1,KRT35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73780539,73780539,T,C,P305087_S1,UNK,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,UNK;MIR4738,dist=63;dist=63,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77231670,77231670,C,T,P305087_S1,RBFOX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,657685,657685,G,C,P305087_S1,TYMS,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TYMS,NM_001071:c.-58G>C;NM_001354868:c.-58G>C;NM_001354867:c.-58G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22782549,22782549,G,C,P305087_S1,GOLGA2P9,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GOLGA2P9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45185822,45185822,G,A,P305087_S1,CEACAM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48972698,48972698,G,A,P305087_S1,CYTH2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CYTH2,NM_017457:c.-67G>A;NM_004228:c.-67G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58787582,58787582,C,T,P305087_S1,ZNF544,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF544,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,20374036,20374036,C,T,P305087_S1,RALGAPA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALGAPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50781771,50781771,T,C,P305087_S1,ZFP64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,58646029,58646029,G,A,P305087_S1,C20orf197,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C20orf197,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,15966480,15966480,C,A,P305087_S1,SAMSN1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SAMSN1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40762505,40762505,C,T,P305087_S1,GET1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GET1;WRB-SH3BGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,41029743,41029743,A,G,P305087_S1,B3GALT5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,B3GALT5,NM_033172:c.-66A>G;NM_033171:c.-2744A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17325233,17325233,G,T,P305087_S1,HSFY1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HSFY1P1;GAB4,dist=15008;dist=117593,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25053827,25053827,A,G,P305087_S1,POM121L10P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,POM121L10P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25246400,25246400,G,A,P305087_S1,SGSM1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SGSM1,NM_001098498:exon5:c.455+1G>A;NM_001039948:exon5:c.455+1G>A;NM_001098497:exon5:c.455+1G>A;NM_133454:exon5:c.455+1G>A,NA,NA,.,.,D,.,.,.
chr22,25316053,25316053,A,G,P305087_S1,SGSM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,14708799,14708799,C,G,P305087_S1,GLRA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLRA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,38482299,38482299,T,A,P305087_S1,TSPAN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49030809,49030809,G,A,P305087_S1,PLP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,131518608,131518608,C,T,P305087_S1,RAP2C-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RAP2C-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,154130473,154130473,T,A,P305087_S1,F8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3732976,3732976,G,A,P305087_T,CEP104,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10407802,10407802,G,A,P305087_T,KIF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892565,16892565,G,A,P305087_T,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19237971,19237971,C,T,P305087_T,IFFO2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,IFFO2,NM_001136265:exon7:c.1225-1G>A,NA,NA,.,.,D,.,.,.
chr1,43212233,43212233,C,T,P305087_T,P3H1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,P3H1,NM_001243246:c.*350G>A;NM_001146289:c.*271G>A;NM_022356:c.*135G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70385254,70385254,C,T,P305087_T,PIN1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIN1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110254987,110254987,T,A,P305087_T,GSTM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145038735,145038735,C,T,P305087_T,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148023204,148023204,T,A,P305087_T,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151143673,151143673,T,C,P305087_T,TMOD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMOD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154027187,154027187,A,T,P305087_T,NUP210L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP210L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158324521,158324521,T,C,P305087_T,CD1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,165876893,165876893,T,C,P305087_T,UCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179530377,179530377,G,T,P305087_T,NPHS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPHS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196288811,196288811,C,T,P305087_T,KCNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207679175,207679175,C,T,P305087_T,CR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223815605,223815605,C,T,P305087_T,CAPN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69205941,69205941,C,A,P305087_T,GKN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GKN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73457354,73457354,G,A,P305087_T,PRADC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRADC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80808578,80808578,T,C,P305087_T,CTNNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89092579,89092579,C,G,P305087_T,ANKRD36BP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ANKRD36BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98341216,98341216,C,T,P305087_T,ZAP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113592948,113592948,G,A,P305087_T,IL1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113890135,113890135,G,T,P305087_T,IL1RN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,211542508,211542508,C,A,P305087_T,CPS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231258096,231258096,C,T,P305087_T,SP140L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241535197,241535197,C,G,P305087_T,CAPN10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37778359,37778359,C,T,P305087_T,ITGA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39170197,39170197,G,C,P305087_T,TTC21A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52441037,52441037,G,A,P305087_T,BAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58154082,58154082,T,A,P305087_T,FLNB-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FLNB-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,93781936,93781936,C,T,P305087_T,NSUN3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NSUN3,NM_022072:c.-35C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113005755,113005755,A,T,P305087_T,BOC,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BOC,NM_033254:c.*46A>T;NM_001301861:c.*46A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132198220,132198220,G,A,P305087_T,DNAJC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183586018,183586018,C,T,P305087_T,PARL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183669097,183669097,T,G,P305087_T,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4207542,4207542,G,C,P305087_T,OTOP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,9250238,9250238,A,T,P305087_T,USP17L11,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,USP17L11;USP17L18,dist=118,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48636221,48636221,A,G,P305087_T,FRYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166235426,166235426,A,T,P305087_T,KLHL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,163674,163674,C,T,P305087_T,PLEKHG4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10618732,10618732,C,T,P305087_T,ANKRD33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,13717423,13717423,C,A,P305087_T,DNAH5,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DNAH5,NM_001369:exon73:c.12705+1G>T,NA,NA,.,.,D,.,.,.
chr5,32782826,32782826,C,T,P305087_T,NPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,41915920,41915920,C,T,P305087_T,C5orf51,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5orf51,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54439543,54439543,G,A,P305087_T,CDC20B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC20B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27834486,27834486,G,A,P305087_T,HIST1H1B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HIST1H1B;HIST1H2AL,dist=84,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57472303,57472303,T,C,P305087_T,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,87953352,87953352,A,T,P305087_T,ZNF292,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF292,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,112471844,112471844,C,G,P305087_T,LAMA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136582203,136582203,T,C,P305087_T,BCLAF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BCLAF1,NM_001077441:c.*45A>G;NM_001363659:c.*45A>G;NM_014739:c.*45A>G;NM_001301038:c.*45A>G;NM_001077440:c.*45A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1023923,1023923,C,A,P305087_T,CYP2W1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2W1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1784083,1784083,G,A,P305087_T,ELFN1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ELFN1,NM_001128636:c.-150G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22985826,22985826,A,C,P305087_T,FAM126A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM126A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,51258905,51258905,G,A,P305087_T,COBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100205478,100205478,G,A,P305087_T,PCOLCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCOLCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127729869,127729869,T,C,P305087_T,SND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152132710,152132710,C,A,P305087_T,KMT2C,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KMT2C,NM_170606:exon1:c.161+1G>T,NA,NA,.,.,D,.,.,.
chr7,154989766,154989766,C,T,P305087_T,HTR5A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HTR5A;INSIG1,dist=110664;dist=99716,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25190222,25190222,C,T,P305087_T,DOCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,92033716,92033716,G,T,P305087_T,PIP4P2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP4P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35718451,35718451,G,C,P305087_T,TLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75527079,75527079,C,T,P305087_T,ALDH1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131586978,131586978,G,A,P305087_T,SPOUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPOUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132572582,132572582,G,A,P305087_T,TOR1B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TOR1B,NM_014506:c.*720G>A;NM_001317894:c.*62G>A;NM_001317893:c.*67G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,30998254,30998254,G,A,P305087_T,SVIL2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SVIL2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1095036,1095036,C,T,P305087_T,MUC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1252071,1252071,C,G,P305087_T,MUC5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17581270,17581270,C,T,P305087_T,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63970921,63970921,G,A,P305087_T,STIP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,STIP1,NM_001282652:exon13:c.1528-1G>A;NM_001282653:exon13:c.1315-1G>A;NM_006819:exon13:c.1387-1G>A,NA,NA,.,.,D,.,.,.
chr11,82951642,82951642,A,G,P305087_T,ANKRD42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117712482,117712482,G,A,P305087_T,FXYD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXYD6;FXYD6-FXYD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50412447,50412447,T,A,P305087_T,RACGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RACGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51138244,51138244,G,A,P305087_T,DIP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66236328,66236328,A,T,P305087_T,HMGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104015733,104015733,A,T,P305087_T,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104015734,104015734,A,T,P305087_T,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111744949,111744949,G,A,P305087_T,CUX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123694575,123694575,G,A,P305087_T,MPHOSPH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124102479,124102479,C,T,P305087_T,DDX55,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132589038,132589038,A,G,P305087_T,EP400P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,EP400P1,NA,NA,NA,T,.,P,.,N,T
chr13,41486808,41486808,G,A,P305087_T,SUGT1P3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SUGT1P3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111996384,111996384,T,A,P305087_T,TEX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,42882350,42882350,T,C,P305087_T,LRFN5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LRFN5;NONE,dist=508598;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr14,55847277,55847277,C,T,P305087_T,ATG14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102805004,102805004,C,A,P305087_T,ZNF839,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF839,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104508348,104508348,G,C,P305087_T,TDRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106478183,106478183,G,T,P305087_T,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=39825;dist=266086,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20362919,20362919,A,T,P305087_T,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;CHEK2P2,dist=NONE;dist=125078,NA,NA,NA,NA,NA,NA,NA,NA
chr15,30696951,30696951,G,A,P305087_T,GOLGA8R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA8R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90432237,90432237,T,G,P305087_T,AP3S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3S2;ARPIN-AP3S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29610681,29610681,T,A,P305087_T,SMG1P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SMG1P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66621230,66621230,C,G,P305087_T,CMTM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CMTM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67578354,67578354,C,T,P305087_T,RIPOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIPOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8132776,8132776,C,T,P305087_T,CTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20630085,20630085,T,A,P305087_T,LOC100287072,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100287072,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30632533,30632533,A,G,P305087_T,RHBDL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33513746,33513746,C,T,P305087_T,UNC45B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UNC45B,NM_001267052:c.*168C>T;NM_001033576:c.*168C>T;NM_173167:c.*168C>T;NM_001308281:c.*168C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36971545,36971545,A,G,P305087_T,CWC25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CWC25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39634046,39634046,A,C,P305087_T,KRT35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48762018,48762018,G,A,P305087_T,ABCC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73780539,73780539,T,C,P305087_T,UNK,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,UNK;MIR4738,dist=63;dist=63,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77231670,77231670,C,T,P305087_T,RBFOX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,18981072,18981072,T,C,P305087_T,GREB1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GREB1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,18981074,18981074,A,T,P305087_T,GREB1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GREB1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,40695182,40695182,C,G,P305087_T,RIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3015829,3015829,C,A,P305087_T,TLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10742266,10742266,C,G,P305087_T,SLC44A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35648277,35648277,G,A,P305087_T,FXYD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXYD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45185822,45185822,G,A,P305087_T,CEACAM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48972698,48972698,G,A,P305087_T,CYTH2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CYTH2,NM_017457:c.-67G>A;NM_004228:c.-67G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50780165,50780165,T,G,P305087_T,MYH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58787582,58787582,C,T,P305087_T,ZNF544,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF544,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34129961,34129961,G,A,P305087_T,ERGIC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERGIC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50781771,50781771,T,C,P305087_T,ZFP64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,58646029,58646029,G,A,P305087_T,C20orf197,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C20orf197,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40762505,40762505,C,T,P305087_T,GET1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GET1;WRB-SH3BGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,41029743,41029743,A,G,P305087_T,B3GALT5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,B3GALT5,NM_033172:c.-66A>G;NM_033171:c.-2744A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45713597,45713597,G,A,P305087_T,AIRE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AIRE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45950905,45950905,A,G,P305087_T,TSPEAR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPEAR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17325233,17325233,G,T,P305087_T,HSFY1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HSFY1P1;GAB4,dist=15008;dist=117593,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18738199,18738199,C,T,P305087_T,FAM230E,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM230E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25246400,25246400,G,A,P305087_T,SGSM1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SGSM1,NM_001098498:exon5:c.455+1G>A;NM_001039948:exon5:c.455+1G>A;NM_001098497:exon5:c.455+1G>A;NM_133454:exon5:c.455+1G>A,NA,NA,.,.,D,.,.,.
chr22,25316053,25316053,A,G,P305087_T,SGSM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45281478,45281478,G,A,P305087_T,PHF21B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF21B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,23752351,23752351,A,G,P305087_T,ACOT9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOT9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,38482299,38482299,T,A,P305087_T,TSPAN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41437782,41437782,C,T,P305087_T,CASK,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CASK,NM_001126055:exon14:c.1297-1G>A;NM_001367721:exon15:c.1315-1G>A;NM_001126054:exon15:c.1315-1G>A;NM_003688:exon15:c.1315-1G>A,NA,NA,.,.,D,.,.,.
chrX,41481924,41481924,G,T,P305087_T,CASK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,44833690,44833690,C,G,P305087_T,KDM6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49030809,49030809,G,A,P305087_T,PLP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,77267335,77267335,G,A,P305087_T,ATP7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100645813,100645813,T,A,P305087_T,BTK,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,BTK;RPL36A;RPL36A-HNRNPH2,dist=186,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106362069,106362069,C,T,P305087_T,RBM41,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RBM41,dist=17,NA,NA,NA,NA,NA,NA,NA,NA
chrX,111625433,111625433,C,T,P305087_T,RTL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,154130473,154130473,T,A,P305087_T,F8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1582641,1582641,T,C,P310851_F,CDK11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7826645,7826645,G,A,P310851_F,CAMTA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAMTA1,NM_001349608:c.*94G>A;NM_015215:c.*94G>A;NM_001349610:c.*94G>A;NM_001349612:c.*94G>A;NM_001349609:c.*63G>A;NM_001349614:c.*63G>A;NM_001349620:c.*94G>A;NM_001349621:c.*63G>A;NM_001349623:c.*63G>A;NM_001349625:c.*94G>A;NM_001349617:c.*94G>A;NM_001349613:c.*63G>A;NM_001349619:c.*94G>A;NM_001349622:c.*63G>A;NM_001349616:c.*94G>A;NM_001349618:c.*94G>A;NM_001349615:c.*63G>A;NM_001349626:c.*94G>A;NM_001349624:c.*63G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7826653,7826653,G,A,P310851_F,CAMTA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAMTA1,NM_001349608:c.*102G>A;NM_015215:c.*102G>A;NM_001349610:c.*102G>A;NM_001349612:c.*102G>A;NM_001349609:c.*71G>A;NM_001349614:c.*71G>A;NM_001349620:c.*102G>A;NM_001349621:c.*71G>A;NM_001349623:c.*71G>A;NM_001349625:c.*102G>A;NM_001349617:c.*102G>A;NM_001349613:c.*71G>A;NM_001349619:c.*102G>A;NM_001349622:c.*71G>A;NM_001349616:c.*102G>A;NM_001349618:c.*102G>A;NM_001349615:c.*71G>A;NM_001349626:c.*102G>A;NM_001349624:c.*71G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16891527,16891527,G,C,P310851_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16891692,16891692,A,G,P310851_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893572,16893572,G,T,P310851_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893603,16893603,T,C,P310851_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24666292,24666292,C,T,P310851_F,GRHL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRHL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38341229,38341229,T,C,P310851_F,INPP5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38341232,38341232,A,G,P310851_F,INPP5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45169690,45169690,A,G,P310851_F,ARMH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45799951,45799951,G,A,P310851_F,MUTYH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUTYH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45962865,45962865,A,G,P310851_F,CCDC163,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC163,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46598317,46598317,G,A,P310851_F,LOC110117498-PIK3R3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC110117498-PIK3R3;PIK3R3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67792655,67792655,T,G,P310851_F,IL12RB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL12RB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,107997976,107997976,A,G,P310851_F,NTNG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTNG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145293059,145293059,A,G,P310851_F,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145304385,145304385,C,A,P310851_F,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148009386,148009386,T,C,P310851_F,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153642105,153642105,C,T,P310851_F,ILF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ILF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153954808,153954808,C,T,P310851_F,RAB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155724344,155724344,A,G,P310851_F,GON4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GON4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155885578,155885578,G,A,P310851_F,KHDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KHDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,162773396,162773396,G,A,P310851_F,HSD17B7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186644037,186644037,G,A,P310851_F,PTGS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229678207,229678207,G,T,P310851_F,ABCB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229678214,229678214,C,G,P310851_F,ABCB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230386154,230386154,C,G,P310851_F,GALNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,243220216,243220216,A,G,P310851_F,LINC01347,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01347,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,283068,283068,C,T,P310851_F,ALKAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALKAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7386198,7386198,C,T,P310851_F,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=168187;dist=175194,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27667065,27667065,C,T,P310851_F,KRTCAP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTCAP3,NM_001321325:c.*15C>T;NM_173853:c.*18C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37599652,37599652,C,T,P310851_F,QPCT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QPCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42578852,42578852,A,G,P310851_F,COX7A2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX7A2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42996746,42996746,A,T,P310851_F,HAAO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAAO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43732601,43732601,A,G,P310851_F,THADA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THADA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69046582,69046582,C,T,P310851_F,ARHGAP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP25,NA,NA,NA,D,.,N,T,N,T
chr2,70741943,70741943,C,T,P310851_F,TGFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86317255,86317255,A,G,P310851_F,POLR1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,103142626,103142626,C,T,P310851_F,SLC9A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114353296,114353296,C,T,P310851_F,WASH2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128481074,128481074,T,C,P310851_F,WDR33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,145121085,145121085,A,G,P310851_F,GTDC1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GTDC1;ZEB2,dist=30449;dist=20563,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165556062,165556062,T,C,P310851_F,COBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206481651,206481651,A,G,P310851_F,PARD3B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PARD3B,NM_152526:c.*1114A>G;NM_001302769:c.*1114A>G;NM_057177:c.*1114A>G;NM_205863:c.*1114A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206630093,206630093,T,C,P310851_F,NRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215846811,215846811,T,C,P310851_F,ABCA12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241976574,241976574,G,A,P310851_F,SNED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15540004,15540004,G,A,P310851_F,COLQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33109617,33109617,A,G,P310851_F,GLB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57130766,57130766,A,G,P310851_F,IL17RD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL17RD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58407201,58407201,G,A,P310851_F,PXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111685397,111685397,A,G,P310851_F,PHLDB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLDB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128984817,128984817,G,T,P310851_F,COPG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,129754083,129754083,G,A,P310851_F,TRH,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRH;ALG1L2,dist=57305;dist=46591,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141644259,141644259,G,C,P310851_F,ATP1B3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP1B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142238421,142238421,C,T,P310851_F,ATR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,145881213,145881213,T,C,P310851_F,PLOD2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PLOD2;PLSCR4,dist=1931;dist=28911,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150275449,150275449,C,G,P310851_F,EIF2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164776676,164776676,G,A,P310851_F,SI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,182923897,182923897,G,A,P310851_F,MCF2L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCF2L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197562523,197562523,G,T,P310851_F,LRCH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197846843,197846843,A,G,P310851_F,ANKRD18DP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANKRD18DP;FAM157B,dist=39301;dist=33067,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1222139,1222139,G,T,P310851_F,CTBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555380,20555380,A,G,P310851_F,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78979275,78979275,C,T,P310851_F,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81123031,81123031,C,T,P310851_F,PRDM8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,154502134,154502134,T,G,P310851_F,TMEM131L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM131L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190860800,190860800,A,G,P310851_F,FRG1-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1-DT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904414,190904414,T,C,P310851_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20068;dist=41092,NA,NA,NA,NA,NA,NA,NA,NA
chr5,26902900,26902900,T,A,P310851_F,CDH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,71499228,71499228,A,G,P310851_F,MAP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,73153413,73153413,T,C,P310851_F,ARHGEF28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,397027,397027,C,T,P310851_F,IRF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33625612,33625612,T,G,P310851_F,ITPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42993657,42993657,C,T,P310851_F,RRP36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRP36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623922,55623922,T,C,P310851_F,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111896812,111896812,G,A,P310851_F,TRAF3IP2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRAF3IP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,131912402,131912402,A,G,P310851_F,MED23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,138607315,138607315,C,T,P310851_F,ARFGEF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGEF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152555705,152555705,T,C,P310851_F,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160133100,160133100,G,A,P310851_F,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2309096,2309096,C,T,P310851_F,SNX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,12644342,12644342,C,G,P310851_F,SCIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72281001,72281001,C,T,P310851_F,TYW1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73150840,73150840,A,G,P310851_F,ABHD11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ABHD11,NM_001145364:c.*49T>C;NM_001301058:c.*164T>C;NM_001321382:c.*49T>C;NM_001321383:c.*1004T>C;NM_148913:c.*49T>C;NM_148912:c.*49T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73275687,73275687,G,T,P310851_F,TMEM270,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM270,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99796659,99796659,G,T,P310851_F,STAG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100002791,100002791,A,G,P310851_F,ZCWPW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCWPW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392911,107392911,C,G,P310851_F,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392917,107392917,C,G,P310851_F,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129125310,129125310,A,G,P310851_F,STRIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141730427,141730427,C,A,P310851_F,MGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142032141,142032141,A,G,P310851_F,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=60073;dist=125201,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142120201,142120201,G,C,P310851_F,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=148133;dist=37141,NA,NA,NA,NA,NA,NA,NA,NA
chr8,3254000,3254000,C,T,P310851_F,CSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6679329,6679329,C,A,P310851_F,XKR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XKR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12232186,12232186,T,C,P310851_F,FAM66A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM66A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12236540,12236540,A,G,P310851_F,FAM66A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM66A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12237177,12237177,C,G,P310851_F,LOC649352,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC649352,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,51449407,51449407,G,A,P310851_F,SNTG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNTG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,69011896,69011896,C,T,P310851_F,PREX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,77690746,77690746,A,C,P310851_F,ZFHX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFHX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,101020450,101020450,C,G,P310851_F,RGS22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125589769,125589769,T,C,P310851_F,MTSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141449081,141449081,A,G,P310851_F,TRAPPC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,15214346,15214346,C,G,P310851_F,TTC39B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC39B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,18474373,18474373,T,G,P310851_F,ADAMTSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41954993,41954993,T,G,P310851_F,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66499716,66499716,A,G,P310851_F,PTGER4P2-CDK2AP2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PTGER4P2-CDK2AP2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68427946,68427946,A,G,P310851_F,FRG1JP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75431002,75431002,G,T,P310851_F,TMC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79829157,79829157,C,A,P310851_F,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86004828,86004828,A,C,P310851_F,FRMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,94843010,94843010,T,C,P310851_F,SPTLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125524063,125524063,G,T,P310851_F,OR1L6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR1L6;OR5C1,dist=11001;dist=27149,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127934115,127934115,C,G,P310851_F,PPP6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127995803,127995803,G,A,P310851_F,RABEPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABEPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131381036,131381036,G,A,P310851_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135147309,135147309,G,A,P310851_F,SETX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137741344,137741344,C,T,P310851_F,LOC101448202,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101448202;MIR3689A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139995362,139995362,A,G,P310851_F,MAN1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140946687,140946687,C,T,P310851_F,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,12226330,12226330,A,G,P310851_F,NUDT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14974745,14974745,C,T,P310851_F,DCLRE1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCLRE1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,20019762,20019762,A,C,P310851_F,MALRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MALRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,38990057,38990057,C,T,P310851_F,ACTR3BP5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ACTR3BP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,74135796,74135796,T,C,P310851_F,MICU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75265367,75265367,A,G,P310851_F,PPP3CB-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PPP3CB-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17111214,17111214,C,G,P310851_F,PIK3C2A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PIK3C2A,NM_002645:c.*71G>C;NM_001321380:c.*71G>C;NM_001321378:c.*71G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61135988,61135988,A,G,P310851_F,TMEM138,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM138,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62383608,62383608,T,C,P310851_F,B3GAT3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,B3GAT3,NM_001288722:c.*50A>G;NM_001288723:c.*66A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66391621,66391621,G,A,P310851_F,RBM14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM14;RBM14-RBM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,116941722,116941722,A,G,P310851_F,SIK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119992839,119992839,A,T,P310851_F,TRIM29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121500393,121500393,C,A,P310851_F,SORL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SORL1,NM_003105:c.*121C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124856587,124856587,T,G,P310851_F,CCDC15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,128805483,128805483,G,A,P310851_F,TP53AIP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TP53AIP1,NM_001195194:c.*3C>T;NM_001251964:c.*1904C>T;NM_022112:c.*3C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130103878,130103878,T,G,P310851_F,ZBTB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB44,NM_014155:c.*280A>C;NM_001370219:c.*8A>C;NM_001370220:c.*8A>C;NM_001370221:c.*280A>C;NM_001370222:c.*8A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1993400,1993400,G,A,P310851_F,CACNA2D4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6955873,6955873,C,A,P310851_F,GNB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9580605,9580605,T,C,P310851_F,DDX12P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DDX12P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40801956,40801956,A,C,P310851_F,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,95687923,95687923,G,A,P310851_F,VEZT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VEZT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,100790274,100790274,T,C,P310851_F,SLC17A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104514022,104514022,A,G,P310851_F,NFYB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109882414,109882414,A,G,P310851_F,MYO1H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123808193,123808193,A,G,P310851_F,SBNO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBNO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124268819,124268819,A,T,P310851_F,DNAH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124305334,124305334,C,T,P310851_F,DNAH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46937074,46937074,G,T,P310851_F,RUBCNL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUBCNL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99886632,99886632,T,C,P310851_F,UBAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,109717888,109717888,G,A,P310851_F,MYO16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,112763221,112763221,G,A,P310851_F,SOX1-OT,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,SOX1-OT,dist=892,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114436081,114436081,C,T,P310851_F,GRK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,68220405,68220405,T,C,P310851_F,ZFYVE26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFYVE26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,80993584,80993584,G,C,P310851_F,CEP128,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,81938967,81938967,T,C,P310851_F,SEL1L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEL1L,NM_005065:c.*4349A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93681758,93681758,A,G,P310851_F,UBR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93681759,93681759,T,C,P310851_F,UBR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106815704,106815704,A,G,P310851_F,LINC00226,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00226;LINC00221,dist=70738;dist=122741,NA,NA,NA,NA,NA,NA,NA,NA
chr15,28270254,28270254,G,A,P310851_F,OCA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OCA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,70987539,70987539,G,A,P310851_F,UACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,70987546,70987546,A,C,P310851_F,UACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85343337,85343337,C,G,P310851_F,ZNF592,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF592,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101827707,101827707,G,A,P310851_F,SNRPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102299973,102299973,T,C,P310851_F,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=12900;dist=45950,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1492197,1492197,G,A,P310851_F,CCDC154,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC154,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,17431900,17431900,T,C,P310851_F,XYLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XYLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20551860,20551860,C,T,P310851_F,ACSM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31419589,31419589,A,G,P310851_F,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31434301,31434301,T,C,P310851_F,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31434303,31434303,T,C,P310851_F,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,33500782,33500782,C,G,P310851_F,LOC390705,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC390705;ENPP7P13,dist=202080;dist=71062,NA,NA,NA,NA,NA,NA,NA,NA
chr16,33722173,33722173,A,G,P310851_F,ENPP7P13,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ENPP7P13;MIR9901,dist=135431;dist=243872,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816454,50816454,C,T,P310851_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816460,50816460,A,T,P310851_F,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56534985,56534985,A,G,P310851_F,BBS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68088394,68088394,A,G,P310851_F,DUS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84600396,84600396,C,T,P310851_F,COTL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,COTL1,NM_021149:c.*55G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,87717492,87717492,G,A,P310851_F,JPH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JPH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89702875,89702875,C,T,P310851_F,DPEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7735881,7735881,C,T,P310851_F,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8638625,8638625,T,G,P310851_F,CCDC42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8791108,8791108,A,G,P310851_F,PIK3R5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3R5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27844399,27844399,G,A,P310851_F,TAOK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34105872,34105872,C,T,P310851_F,MMP28,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MMP28,NM_001032278:c.*6G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35746391,35746391,A,G,P310851_F,ACACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACA;C17orf78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40367878,40367878,G,A,P310851_F,STAT5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47014737,47014737,T,C,P310851_F,SNF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72725266,72725266,T,G,P310851_F,RAB37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72725268,72725268,C,G,P310851_F,RAB37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,219008,219008,T,C,P310851_F,THOC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12535689,12535689,T,C,P310851_F,SPIRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPIRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14543161,14543161,C,A,P310851_F,POTEC,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,POTEC,NM_001137671:c.-16G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,33514092,33514092,T,A,P310851_F,MIR3929,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR3929,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5785572,5785572,G,A,P310851_F,DUS3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUS3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6026075,6026075,T,C,P310851_F,RFX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7152991,7152991,T,C,P310851_F,INSR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8652047,8652047,C,T,P310851_F,ADAMTS10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10429159,10429159,C,T,P310851_F,RAVER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAVER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11217145,11217145,C,A,P310851_F,LDLR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12037392,12037392,T,C,P310851_F,ZNF700,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF700,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14819168,14819168,G,T,P310851_F,ZNF333,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF333,NA,NA,NA,.,.,N,T,.,.
chr19,17691845,17691845,C,T,P310851_F,COLGALT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLGALT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18310985,18310985,T,C,P310851_F,RAB3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33585256,33585256,G,A,P310851_F,GPATCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37875756,37875756,G,T,P310851_F,ZNF527,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF527,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39219049,39219049,C,T,P310851_F,ACTN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39948905,39948905,C,T,P310851_F,SUPT5H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPT5H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41401401,41401401,C,G,P310851_F,CYP2G1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CYP2G1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43689419,43689419,A,C,P310851_F,PSG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54185306,54185306,A,G,P310851_F,MIR520F,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR520F,dist=107,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55249989,55249989,G,A,P310851_F,KIR2DL3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KIR2DL3,NM_015868:c.-22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55452186,55452186,T,C,P310851_F,NLRP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29623156,29623156,G,A,P310851_F,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30474608,30474608,C,T,P310851_F,TTLL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47614587,47614587,A,G,P310851_F,ARFGEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60582589,60582589,G,A,P310851_F,TAF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33296598,33296598,T,G,P310851_F,HUNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HUNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34902045,34902045,A,G,P310851_F,GART,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GART,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19241369,19241369,A,G,P310851_F,CLTCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19241379,19241379,G,A,P310851_F,CLTCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23488679,23488679,A,G,P310851_F,RAB36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32257241,32257241,A,T,P310851_F,DEPDC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEPDC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37531289,37531289,C,T,P310851_F,IL2RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39019328,39019328,A,C,P310851_F,FAM227A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM227A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,2772960,2772960,A,G,P310851_F,GYG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70340704,70340704,T,C,P310851_F,MED12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,71933550,71933550,C,A,P310851_F,PHKA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHKA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107840205,107840205,T,G,P310851_F,COL4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,130416297,130416297,A,G,P310851_F,IGSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,139006509,139006509,G,A,P310851_F,ATP11C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153482589,153482589,A,G,P310851_F,OPN1MW,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OPN1MW;OPN1MW,dist=20237;dist=2614,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1335529,1335529,C,T,P310851_S,MRPL20-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MRPL20-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1847335,1847335,G,A,P310851_S,CALML6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALML6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10204808,10204808,G,A,P310851_S,UBE4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12942353,12942353,G,C,P310851_S,PRAMEF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRAMEF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15779408,15779408,A,C,P310851_S,CTRC,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CTRC;CELA2A,dist=3671;dist=3819,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16751697,16751697,A,G,P310851_S,SPATA21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16891299,16891299,T,C,P310851_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892311,16892311,A,G,P310851_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893603,16893603,T,C,P310851_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17256877,17256877,G,C,P310851_S,CROCC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CROCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21753575,21753575,A,C,P310851_S,ECE1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ECE1;NBPF3,dist=81578;dist=13055,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32542001,32542001,C,T,P310851_S,TMEM39B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM39B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35455822,35455822,T,C,P310851_S,ZMYM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36884520,36884520,C,T,P310851_S,OSCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,79385841,79385841,A,G,P310851_S,ADGRL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92163523,92163523,G,A,P310851_S,TGFBR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGFBR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114401507,114401507,C,T,P310851_S,AP4B1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,AP4B1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144813929,144813929,A,C,P310851_S,NBPF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF19;NBPF20;NBPF8;NBPF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209042,145209042,C,T,P310851_S,NBPF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF19;NBPF20;NBPF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148009500,148009500,A,G,P310851_S,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,149676101,149676101,A,G,P310851_S,LINC01145,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01145,NA,NA,NA,.,.,N,.,.,T
chr1,151111318,151111318,T,C,P310851_S,SEMA6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153954808,153954808,C,T,P310851_S,RAB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168266832,168266832,A,G,P310851_S,TBX19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,171130610,171130610,T,C,P310851_S,FMO6P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FMO6P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176145007,176145007,C,T,P310851_S,COP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,210847390,210847390,C,T,P310851_S,HHAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223724516,223724516,G,T,P310851_S,CAPN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224566618,224566618,T,C,P310851_S,CNIH4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CNIH4,NM_001277199:c.*3094T>C;NM_001277197:c.*3094T>C;NM_001277198:c.*3122T>C;NM_014184:c.*3094T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226473868,226473868,A,G,P310851_S,LIN9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIN9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229678207,229678207,G,T,P310851_S,ABCB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230386154,230386154,C,G,P310851_S,GALNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7421598,7421598,C,T,P310851_S,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=203587;dist=139794,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7421609,7421609,C,G,P310851_S,LOC101929452,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101929452;LOC100506274,dist=203598;dist=139783,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10893944,10893944,C,G,P310851_S,ATP6V1C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27522605,27522605,G,A,P310851_S,TRIM54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27667065,27667065,C,T,P310851_S,KRTCAP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTCAP3,NM_001321325:c.*15C>T;NM_173853:c.*18C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27703120,27703120,G,A,P310851_S,IFT172,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT172,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,30968641,30968641,C,T,P310851_S,CAPN13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32702704,32702704,T,C,P310851_S,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37599652,37599652,C,T,P310851_S,QPCT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QPCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42996746,42996746,A,T,P310851_S,HAAO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAAO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43019719,43019719,C,T,P310851_S,HAAO,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HAAO,NM_012205:c.-43G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43937621,43937621,C,T,P310851_S,PLEKHH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69046582,69046582,C,T,P310851_S,ARHGAP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP25,NA,NA,NA,D,.,N,T,N,T
chr2,70165156,70165156,A,G,P310851_S,MXD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MXD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74230310,74230310,C,T,P310851_S,TET3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TET3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74230314,74230314,C,T,P310851_S,TET3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TET3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74230324,74230324,C,T,P310851_S,TET3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TET3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89291984,89291984,A,T,P310851_S,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;NONE,dist=180016;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr2,90122224,90122224,G,A,P310851_S,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;LOC107985911,dist=1010256;dist=1682959,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95497761,95497761,G,T,P310851_S,ANKRD20A8P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ANKRD20A8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,131984532,131984532,C,G,P310851_S,POTEE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,182412625,182412625,G,C,P310851_S,CERKL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERKL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206481651,206481651,A,G,P310851_S,PARD3B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PARD3B,NM_152526:c.*1114A>G;NM_001302769:c.*1114A>G;NM_057177:c.*1114A>G;NM_205863:c.*1114A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206630093,206630093,T,C,P310851_S,NRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219452125,219452125,T,C,P310851_S,CNOT9,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CNOT9,NM_001271634:exon5:c.526+2T>C,NA,NA,.,.,N,.,.,.
chr2,227807251,227807251,A,G,P310851_S,RHBDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234753041,234753041,G,A,P310851_S,HJURP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HJURP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,235949361,235949361,C,T,P310851_S,SH3BP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3BP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10073808,10073808,C,T,P310851_S,FANCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15540004,15540004,G,A,P310851_S,COLQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52847579,52847579,C,T,P310851_S,ITIH4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111705316,111705316,G,T,P310851_S,ABHD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABHD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150275449,150275449,C,G,P310851_S,EIF2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,180667223,180667223,A,G,P310851_S,FXR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,182858481,182858481,G,A,P310851_S,LAMP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183665348,183665348,G,A,P310851_S,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,193171780,193171780,G,A,P310851_S,ATP13A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,9240995,9240995,C,A,P310851_S,USP17L15,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,USP17L15;USP17L17,dist=2935;dist=4610,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555394,20555394,A,G,P310851_S,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,36317803,36317803,T,C,P310851_S,DTHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,38682399,38682399,T,C,P310851_S,KLF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47445918,47445918,C,T,P310851_S,GABRB1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GABRB1;COMMD8,dist=17471;dist=6888,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78979275,78979275,C,T,P310851_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79229388,79229388,C,T,P310851_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1410956,1410956,C,T,P310851_S,SLC6A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4087500,4087500,T,G,P310851_S,IRX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IRX1;LINC02114,dist=485983;dist=686094,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37170095,37170095,A,G,P310851_S,CPLANE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPLANE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38425328,38425328,C,T,P310851_S,EGFLAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EGFLAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,71499228,71499228,A,G,P310851_S,MAP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75991514,75991514,C,A,P310851_S,IQGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,93954293,93954293,G,T,P310851_S,KIAA0825,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KIAA0825,NM_001145678:c.-81462C>A;NM_173665:c.-81462C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150135853,150135853,C,G,P310851_S,DCTN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCTN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,175774503,175774503,T,C,P310851_S,KIAA1191,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KIAA1191,NM_001079684:c.*100A>G;NM_001287335:c.*100A>G;NM_001287336:c.*100A>G;NM_001079685:c.*100A>G;NM_020444:c.*100A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178404588,178404588,G,T,P310851_S,GRM6,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,GRM6,dist=742,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36930527,36930527,A,G,P310851_S,PI16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PI16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623922,55623922,T,C,P310851_S,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160133545,160133545,T,C,P310851_S,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23210771,23210771,A,G,P310851_S,KLHL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38281945,38281945,A,G,P310851_S,STARD3NL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,STARD3NL;TARP,dist=11675;dist=17299,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72281001,72281001,C,T,P310851_S,TYW1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,90742162,90742162,A,G,P310851_S,CDK14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99273996,99273996,T,A,P310851_S,CYP3A5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CYP3A5,NM_001291830:c.-16A>T;NM_001291829:c.-9329A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102212880,102212880,G,C,P310851_S,POLR2J3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2J3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392911,107392911,C,G,P310851_S,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107392917,107392917,C,G,P310851_S,CBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,108131710,108131710,T,C,P310851_S,PNPLA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140110531,140110531,C,T,P310851_S,RAB19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152497505,152497505,G,T,P310851_S,ACTR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,3224480,3224480,C,A,P310851_S,CSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6679329,6679329,C,A,P310851_S,XKR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XKR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11659412,11659412,A,C,P310851_S,FDFT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FDFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22056662,22056662,G,A,P310851_S,BMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,24187401,24187401,A,T,P310851_S,LOC101929294,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929294,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41132568,41132568,G,A,P310851_S,SFRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68396272,68396272,C,T,P310851_S,LOC102724708,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724708,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,77690746,77690746,A,C,P310851_S,ZFHX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFHX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,87558992,87558992,C,T,P310851_S,CPNE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95521875,95521875,T,C,P310851_S,VIRMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIRMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95866218,95866218,A,C,P310851_S,INTS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,6606801,6606801,G,A,P310851_S,GLDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37525266,37525266,A,T,P310851_S,FBXO10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75431002,75431002,G,T,P310851_S,TMC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79244027,79244027,A,G,P310851_S,PRUNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRUNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86243322,86243322,C,A,P310851_S,IDNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99155094,99155094,T,C,P310851_S,ZNF367,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF367,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100892031,100892031,G,A,P310851_S,CORO2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CORO2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,105347919,105347919,T,A,P310851_S,LINC00587,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00587,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116764870,116764870,C,T,P310851_S,ZNF618,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF618,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134145493,134145493,A,T,P310851_S,FAM78A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM78A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140946687,140946687,C,T,P310851_S,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,29833715,29833715,G,A,P310851_S,SVIL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVIL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,78704755,78704755,G,C,P310851_S,KCNMA1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,KCNMA1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95421960,95421960,A,G,P310851_S,PDE6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97380707,97380707,G,A,P310851_S,ALDH18A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115423645,115423645,G,A,P310851_S,NRAP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NRAP,NM_198060:c.-4C>T;NM_001322945:c.-4C>T;NM_001261463:c.-4C>T;NM_006175:c.-4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,128830589,128830589,G,A,P310851_S,DOCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22882001,22882001,C,T,P310851_S,CCDC179,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCDC179,NM_001195637:c.-34G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47289291,47289291,T,C,P310851_S,NR1H3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR1H3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47508239,47508239,T,C,P310851_S,CELF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62546515,62546515,A,G,P310851_S,TAF6L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF6L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66391621,66391621,G,A,P310851_S,RBM14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM14;RBM14-RBM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66834386,66834386,G,A,P310851_S,RHOD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68837740,68837740,C,T,P310851_S,TPCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71628350,71628350,A,G,P310851_S,LOC100133315,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100133315,NA,NA,NA,T,.,.,T,N,T
chr11,72361972,72361972,T,C,P310851_S,PDE2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89955825,89955825,T,G,P310851_S,CHORDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHORDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124086004,124086004,T,C,P310851_S,OR10D3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR10D3;OR8G2P,dist=29052;dist=9340,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124856587,124856587,T,G,P310851_S,CCDC15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130103878,130103878,T,G,P310851_S,ZBTB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB44,NM_014155:c.*280A>C;NM_001370219:c.*8A>C;NM_001370220:c.*8A>C;NM_001370221:c.*280A>C;NM_001370222:c.*8A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr11,133940282,133940282,G,A,P310851_S,JAM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27540104,27540104,C,T,P310851_S,ARNTL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40801956,40801956,A,C,P310851_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,42768446,42768446,T,C,P310851_S,PPHLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPHLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,42768455,42768455,G,A,P310851_S,PPHLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPHLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49314875,49314875,G,A,P310851_S,CCDC65,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC65,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101790035,101790035,G,A,P310851_S,ARL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120615635,120615635,G,A,P310851_S,GCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121972343,121972343,G,A,P310851_S,KDM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25052423,25052423,G,A,P310851_S,PARP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25052446,25052446,C,T,P310851_S,PARP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,48667799,48667799,T,C,P310851_S,MED4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31778094,31778094,C,A,P310851_S,HEATR5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36946539,36946539,T,G,P310851_S,SFTA3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SFTA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93532665,93532665,A,G,P310851_S,ITPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,35838161,35838161,G,A,P310851_S,DPH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45059421,45059421,C,T,P310851_S,TRIM69,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM69,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84917044,84917044,T,G,P310851_S,GOLGA6L4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GOLGA6L4;LOC103171574,dist=2934;dist=60173,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85343337,85343337,C,G,P310851_S,ZNF592,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF592,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102292765,102292765,C,T,P310851_S,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=5692;dist=53158,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3607571,3607571,C,T,P310851_S,NLRC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4751182,4751182,G,C,P310851_S,ANKS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,16110508,16110508,C,T,P310851_S,ABCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22262737,22262737,C,T,P310851_S,EEF2K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEF2K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31193575,31193575,C,G,P310851_S,FUS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816454,50816454,C,T,P310851_S,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68088394,68088394,A,G,P310851_S,DUS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68321173,68321173,A,G,P310851_S,SLC7A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71795492,71795492,C,T,P310851_S,AP1G1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP1G1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1558540,1558540,C,T,P310851_S,PRPF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1563693,1563693,C,G,P310851_S,PRPF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18111822,18111822,G,T,P310851_S,ALKBH5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ALKBH5,NM_017758:c.*112G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27246501,27246501,T,A,P310851_S,PHF12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28887667,28887667,T,C,P310851_S,GOSR1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GOSR1;SMURF2P1-LRRC37BP1,dist=33057;dist=15816,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843764,29843764,C,T,P310851_S,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33446049,33446049,A,G,P310851_S,RAD51L3-RFFL,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RAD51L3-RFFL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33501110,33501110,A,G,P310851_S,UNC45B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC45B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34105872,34105872,C,T,P310851_S,MMP28,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MMP28,NM_001032278:c.*6G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40369143,40369143,G,A,P310851_S,STAT5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40847975,40847975,C,T,P310851_S,CNTNAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTNAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45664593,45664593,C,T,P310851_S,NPEPPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPEPPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,49073035,49073035,G,T,P310851_S,SPAG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,63149737,63149737,C,T,P310851_S,RGS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14186351,14186351,C,T,P310851_S,ANKRD20A5P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ANKRD20A5P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61067238,61067238,T,C,P310851_S,VPS4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2097989,2097989,C,T,P310851_S,IZUMO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IZUMO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2401901,2401901,C,T,P310851_S,TMPRSS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2557023,2557023,G,A,P310851_S,GNG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6974699,6974699,T,C,P310851_S,ADGRE4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ADGRE4P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8038876,8038876,G,A,P310851_S,ELAVL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAVL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12876380,12876380,A,G,P310851_S,HOOK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOOK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14819168,14819168,G,T,P310851_S,ZNF333,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF333,NA,NA,NA,.,.,N,T,.,.
chr19,15014581,15014581,G,A,P310851_S,OR7A17,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR7A17;OR7C2,dist=22414;dist=37720,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16593416,16593416,G,A,P310851_S,CALR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18197754,18197754,G,A,P310851_S,IL12RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL12RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36364429,36364429,A,G,P310851_S,APLP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APLP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39100060,39100060,T,C,P310851_S,MAP4K1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39727910,39727910,G,A,P310851_S,SYCN,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SYCN;IFNL3,dist=33004;dist=6283,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40739433,40739433,G,A,P310851_S,AKT2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AKT2,NM_001626:c.*346C>T;NM_001243028:c.*346C>T;NM_001243027:c.*346C>T;NM_001330511:c.*346C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45918881,45918881,C,G,P310851_S,ERCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55249989,55249989,G,A,P310851_S,KIR2DL3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KIR2DL3,NM_015868:c.-22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57929231,57929231,G,A,P310851_S,ZNF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,11009667,11009667,T,C,P310851_S,C20orf187,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C20orf187,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29628185,29628185,A,G,P310851_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30060741,30060741,T,C,P310851_S,DEFB124,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEFB124,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31466412,31466412,T,C,P310851_S,EFCAB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42199743,42199743,A,G,P310851_S,SGK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60582589,60582589,G,A,P310851_S,TAF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,27938584,27938584,C,T,P310851_S,CYYR1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CYYR1,NM_001320768:exon2:c.176+1G>A;NM_052954:exon2:c.176+1G>A,NA,NA,.,.,D,.,.,.
chr21,33296598,33296598,T,G,P310851_S,HUNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HUNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18072221,18072221,C,T,P310851_S,SLC25A18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21968730,21968730,G,A,P310851_S,UBE2L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23090136,23090136,G,A,P310851_S,GGTLC2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGTLC2;MIR650,dist=99768;dist=75134,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30038463,30038463,A,G,P310851_S,NF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39417402,39417402,T,C,P310851_S,APOBEC3D,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,APOBEC3D,NM_001363781:c.-123T>C;NM_152426:c.-123T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42959495,42959495,T,C,P310851_S,SERHL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERHL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43459762,43459762,A,G,P310851_S,TTLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,2772960,2772960,A,G,P310851_S,GYG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,31144665,31144665,C,T,P310851_S,DMD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21402141,21402141,A,G,P318050_F,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71238491,71238491,G,A,P318050_F,C17orf80,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,C17orf80,NM_001351264:exon4:c.1621+1G>A;NM_017941:exon4:c.1621+1G>A;NM_001100622:exon4:c.1621+1G>A,NA,NA,.,.,D,.,.,.
chr5,79647618,79647618,A,G,P318050_F,CRSP8P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CRSP8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68712209,68712209,T,C,P318050_F,CDH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,3611643,3611643,C,G,P318050_F,CSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23102182,23102182,G,A,P318050_F,USP31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20698369,20698369,T,G,P318050_F,ABCB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,85688614,85688614,G,A,P318050_F,GSE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,74229002,74229002,C,T,P318050_F,EEF1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEF1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,8518438,8518438,G,C,P318050_F,PTPRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160165836,160165836,C,G,P318050_F,CASQ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASQ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1779089,1779089,G,T,P318050_F,MAPK8IP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK8IP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21832202,21832202,G,A,P318050_F,PI4KAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PI4KAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21402141,21402141,A,G,P318050_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71238491,71238491,G,A,P318050_S,C17orf80,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,C17orf80,NM_001351264:exon4:c.1621+1G>A;NM_017941:exon4:c.1621+1G>A;NM_001100622:exon4:c.1621+1G>A,NA,NA,.,.,D,.,.,.
chr5,79647618,79647618,A,G,P318050_S,CRSP8P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CRSP8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68712209,68712209,T,C,P318050_S,CDH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,3611643,3611643,C,G,P318050_S,CSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23102182,23102182,G,A,P318050_S,USP31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20698369,20698369,T,G,P318050_S,ABCB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,85688614,85688614,G,A,P318050_S,GSE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,74229002,74229002,C,T,P318050_S,EEF1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEF1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,8518438,8518438,G,C,P318050_S,PTPRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160165836,160165836,C,G,P318050_S,CASQ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASQ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1779089,1779089,G,T,P318050_S,MAPK8IP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK8IP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21832202,21832202,G,A,P318050_S,PI4KAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PI4KAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892419,16892419,A,G,P342989_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,142542820,142542820,G,C,P342989_F,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;ANKRD20A12P,dist=NONE;dist=154601,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148025932,148025932,A,G,P342989_F,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151338355,151338355,G,A,P342989_F,SELENBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SELENBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161483723,161483723,G,A,P342989_F,FCGR2A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FCGR2A,NM_021642:exon6:c.777+1G>A;NM_001136219:exon6:c.780+1G>A,NA,NA,.,.,D,.,.,.
chr1,183176898,183176898,G,A,P342989_F,LAMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,197313623,197313623,G,A,P342989_F,CRB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205809672,205809672,C,A,P342989_F,PM20D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PM20D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,214625372,214625372,C,T,P342989_F,PTPN14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,183053625,183053625,C,A,P342989_F,PDE1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44329366,44329366,C,T,P342989_F,TOPAZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOPAZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58622821,58622821,T,A,P342989_F,FAM3D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM3D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,149701115,149701115,G,A,P342989_F,TMEM183B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TMEM183B,NM_001079809:c.-20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197349029,197349029,G,C,P342989_F,LOC220729,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC220729,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1992135,1992135,C,T,P342989_F,NELFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NELFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71250224,71250224,A,G,P342989_F,SMR3B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SMR3B,NM_006685:c.-4A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119551761,119551761,A,G,P342989_F,LOC729218,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC729218,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4930088,4930088,A,T,P342989_F,LINC02114,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02114;LINC01020,dist=155110;dist=104384,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4930104,4930104,T,A,P342989_F,LINC02114,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02114;LINC01020,dist=155126;dist=104368,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32789782,32789782,C,A,P342989_F,NPR3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NPR3,NM_001364458:c.*3331C>A;NM_001204376:c.*3331C>A;NM_001363652:c.*3331C>A;NM_001364460:c.*3331C>A;NM_001204375:c.*3331C>A;NM_000908:c.*3331C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,90015846,90015846,C,T,P342989_F,ADGRV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17551639,17551639,G,A,P342989_F,CAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,46649315,46649315,C,A,P342989_F,LOC101926934,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101926934,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57512352,57512352,A,T,P342989_F,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160202233,160202233,A,G,P342989_F,TCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50544582,50544582,C,T,P342989_F,DDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,66520742,66520742,T,A,P342989_F,TYW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76641263,76641263,A,G,P342989_F,DTX2P1-UPK3BP1-PMS2P11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DTX2P1-UPK3BP1-PMS2P11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,90377206,90377206,C,G,P342989_F,CDK14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100387066,100387066,G,A,P342989_F,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,131866703,131866703,C,A,P342989_F,PLXNA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139091854,139091854,A,T,P342989_F,FMC1-LUC7L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMC1-LUC7L2;LUC7L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17753027,17753027,C,G,P342989_F,FGL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FGL1,NM_004467:c.-9964G>C;NM_201552:c.-9964G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr9,12667,12667,A,G,P342989_F,DDX11L5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DDX11L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,17781909,17781909,C,T,P342989_F,SH3GL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3GL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,55571216,55571216,A,T,P342989_F,PCDH15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDH15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135216508,135216508,T,C,P342989_F,MTG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60562972,60562972,T,C,P342989_F,MS4A10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70544920,70544920,C,T,P342989_F,SHANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117009141,117009141,G,A,P342989_F,SIK3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SIK3;PAFAH1B2,dist=39997;dist=5859,NA,NA,NA,NA,NA,NA,NA,NA
chr12,41333410,41333410,A,C,P342989_F,CNTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57935184,57935184,G,C,P342989_F,DCTN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66235964,66235964,G,A,P342989_F,HMGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122623629,122623629,C,T,P342989_F,MLXIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLXIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,32351232,32351232,G,C,P342989_F,RXFP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RXFP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,36878475,36878475,T,G,P342989_F,SPART,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SPART,NM_001142296:c.*27A>C;NM_015087:c.*27A>C;NM_001142295:c.*27A>C;NM_001142294:c.*27A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr15,31339278,31339278,C,T,P342989_F,TRPM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42302338,42302338,A,C,P342989_F,PLA2G4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,63579477,63579477,T,G,P342989_F,APH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,105298,105298,G,A,P342989_F,SNRNP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRNP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22563994,22563994,T,G,P342989_F,OTOAP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,OTOAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10443419,10443419,T,G,P342989_F,MYHAS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,81083510,81083510,G,T,P342989_F,METRNL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,METRNL;RPL23AP87,dist=30639;dist=91156,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29122301,29122301,G,A,P342989_F,DSG2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DSG2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61310820,61310820,C,T,P342989_F,SERPINB4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SERPINB4,NM_175041:c.-9G>A;NM_002974:c.-9G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3193200,3193200,A,T,P342989_F,NCLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15220505,15220505,C,A,P342989_F,SYDE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYDE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38886050,38886050,C,T,P342989_F,SPRED3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPRED3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29628455,29628455,G,A,P342989_F,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30947682,30947682,C,G,P342989_F,ASXL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASXL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61144979,61144979,G,A,P342989_F,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20709308,20709308,A,C,P342989_F,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=2524;dist=39097,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23247000,23247000,T,C,P342989_F,IGLL5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IGLL5;RSPH14,dist=8709;dist=154593,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38323883,38323883,C,T,P342989_F,MICALL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICALL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39477330,39477330,A,G,P342989_F,APOBEC3G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC3G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42910668,42910668,C,T,P342989_F,RRP7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRP7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46760187,46760187,T,C,P342989_F,CELSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,13178,13178,G,A,P342989_S,DDX11L1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DDX11L1;LOC102725121,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16910078,16910078,G,T,P342989_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109656075,109656075,A,T,P342989_S,C1orf194,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf194,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145293400,145293400,G,A,P342989_S,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148023204,148023204,T,A,P342989_S,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161483723,161483723,G,A,P342989_S,FCGR2A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FCGR2A,NM_021642:exon6:c.777+1G>A;NM_001136219:exon6:c.780+1G>A,NA,NA,.,.,D,.,.,.
chr1,206766845,206766845,A,T,P342989_S,EIF2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203417403,203417403,A,T,P342989_S,BMPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,101231799,101231799,T,G,P342989_S,SENP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SENP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195400654,195400654,T,C,P342989_S,SDHAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SDHAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34191402,34191402,T,C,P342989_S,LOC646652,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC646652,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56441236,56441236,G,C,P342989_S,NUPR2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NUPR2;LOC650226,dist=257126;dist=50161,NA,NA,NA,NA,NA,NA,NA,NA
chr10,72300743,72300743,C,G,P342989_S,PALD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PALD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134699633,134699633,G,A,P342989_S,CFAP46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5655762,5655762,T,C,P342989_S,TRIM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM34;TRIM6-TRIM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25020983,25020983,T,C,P342989_S,PARP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22563994,22563994,T,G,P342989_S,OTOAP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,OTOAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,32646817,32646817,A,C,P342989_S,CCL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45669594,45669594,C,G,P342989_S,NPEPPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPEPPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14534886,14534886,A,C,P342989_S,POTEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48988883,48988883,T,G,P342989_S,LMTK3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LMTK3,NM_001080434:c.*147A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23247000,23247000,T,C,P342989_S,IGLL5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IGLL5;RSPH14,dist=8709;dist=154593,NA,NA,NA,NA,NA,NA,NA,NA
chr1,29642075,29642075,G,A,P364157_F,PTPRU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,81967938,81967938,A,G,P364157_F,ADGRL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89662988,89662988,C,T,P364157_F,GBP4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GBP4,NM_052941:exon2:c.41-1G>A,NA,NA,.,.,D,.,.,.
chr2,25359254,25359254,C,T,P364157_F,EFR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27730955,27730955,C,T,P364157_F,GCKR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCKR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,62733045,62733045,T,A,P364157_F,TMEM17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,174131485,174131485,G,A,P364157_F,MAP3K20-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MAP3K20-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,24562893,24562893,G,A,P364157_F,THRB-AS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,THRB-AS1;RARB,dist=21391;dist=307921,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38287793,38287793,G,T,P364157_F,OXSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57069107,57069107,T,C,P364157_F,ARHGEF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113656924,113656924,G,A,P364157_F,GRAMD1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122630267,122630267,G,A,P364157_F,SEMA5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,136323346,136323346,G,A,P364157_F,STAG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,9390645,9390645,G,A,P364157_F,USP17L6P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,USP17L6P;DEFB131A,dist=19849;dist=55615,NA,NA,NA,NA,NA,NA,NA,NA
chr4,178354353,178354353,C,T,P364157_F,AGA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,113798666,113798666,C,T,P364157_F,LOC101927078,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927078,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160133142,160133142,G,A,P364157_F,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161532794,161532794,C,T,P364157_F,MAP3K4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2255702,2255702,C,T,P364157_F,MAD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27211867,27211867,C,T,P364157_F,HOXA10-HOXA9,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HOXA10-HOXA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38725419,38725419,C,T,P364157_F,FAM183BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FAM183BP,NA,NA,NA,T,N,N,.,N,T
chr7,76631555,76631555,C,T,P364157_F,DTX2P1-UPK3BP1-PMS2P11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DTX2P1-UPK3BP1-PMS2P11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98254231,98254231,C,T,P364157_F,NPTX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPTX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,110303550,110303550,C,T,P364157_F,IMMP2L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IMMP2L,NM_032549:c.*108G>A;NM_001244606:c.*108G>A;NM_001350963:c.*218G>A;NM_001350961:c.*108G>A;NM_001350960:c.*108G>A;NM_001350959:c.*108G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129845299,129845299,C,T,P364157_F,TMEM209,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TMEM209,dist=53,NA,NA,NA,NA,NA,NA,NA,NA
chr7,135413621,135413621,G,A,P364157_F,SLC13A4,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SLC13A4;FAM180A,dist=687;dist=719,NA,NA,NA,NA,NA,NA,NA,NA
chr8,35402084,35402084,G,A,P364157_F,UNC5D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,85833109,85833109,A,T,P364157_F,RALYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34458974,34458974,G,T,P364157_F,DNAI1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DNAI1,NM_001281428:c.-30G>T;NM_012144:c.-30G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125877451,125877451,G,A,P364157_F,MIR600HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR600HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139889626,139889626,A,G,P364157_F,CLIC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,42907201,42907201,G,A,P364157_F,CCNYL2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CCNYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,78870124,78870124,G,A,P364157_F,KCNMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99131816,99131816,C,T,P364157_F,RRP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,380801,380801,G,A,P364157_F,B4GALNT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALNT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,24936019,24936019,C,G,P364157_F,LUZP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LUZP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118416003,118416003,C,T,P364157_F,IFT46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT46;TMEM25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7066808,7066808,C,T,P364157_F,PTPN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7882374,7882374,G,A,P364157_F,CLEC4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,13228845,13228845,A,G,P364157_F,FAM234B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM234B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117715975,117715975,G,A,P364157_F,NOS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117725837,117725837,C,T,P364157_F,NOS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,70714144,70714144,A,G,P364157_F,ADAM21P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ADAM21P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100317182,100317182,T,C,P364157_F,EML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106691688,106691688,C,A,P364157_F,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=253330;dist=52581,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72030420,72030420,G,A,P364157_F,THSD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THSD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72978946,72978946,G,A,P364157_F,BBS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3294647,3294647,C,T,P364157_F,MEFV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEFV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20599444,20599444,C,A,P364157_F,ACSM2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ACSM2B;ACSM1,dist=11755;dist=35113,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22320212,22320212,C,T,P364157_F,POLR3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27457210,27457210,T,C,P364157_F,IL21R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL21R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,83733421,83733421,G,A,P364157_F,CDH13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2596045,2596045,C,G,P364157_F,CLUH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLUH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73746744,73746744,C,T,P364157_F,ITGB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,49088485,49088485,C,T,P364157_F,LINC01630,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01630,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2402988,2402988,C,T,P364157_F,TMPRSS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5623416,5623416,G,A,P364157_F,SAFB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAFB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,4164107,4164107,C,T,P364157_F,SMOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31494884,31494884,G,A,P364157_F,EFCAB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,31852336,31852336,T,C,P364157_F,KRTAP19-1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTAP19-1,NM_181607:c.*28A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38593591,38593591,C,T,P364157_F,DSCR9,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DSCR9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24891365,24891365,C,T,P364157_F,UPB1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,UPB1,NM_016327:c.-7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36682041,36682041,C,T,P364157_F,MYH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,21444569,21444569,G,T,P364157_F,CNKSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNKSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49066556,49066556,G,A,P364157_F,CACNA1F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69242806,69242806,C,T,P364157_F,EDA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129804231,129804231,G,A,P364157_F,ENOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,957843,957843,G,A,P364157_S,AGRN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,AGRN,NM_001305275:exon2:c.463+1G>A;NM_198576:exon2:c.463+1G>A,NA,NA,.,.,D,.,.,.
chr1,6524526,6524526,A,G,P364157_S,TNFRSF25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892120,16892120,G,T,P364157_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892545,16892545,C,T,P364157_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,18024145,18024145,G,C,P364157_S,ARHGEF10L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARHGEF10L,NM_018125:c.*270G>C;NM_001011722:c.*270G>C;NM_001319837:c.*270G>C;NM_001328124:c.*270G>C;NM_001319838:c.*270G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27609772,27609772,G,A,P364157_S,WDTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,42744394,42744394,C,T,P364157_S,FOXJ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXJ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43255444,43255444,C,T,P364157_S,TMEM269,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM269,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53932348,53932348,C,T,P364157_S,DMRTB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DMRTB1,NM_033067:c.*13C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,74835002,74835002,A,G,P364157_S,FPGT-TNNI3K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FPGT-TNNI3K;TNNI3K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,77510437,77510437,G,A,P364157_S,ST6GALNAC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST6GALNAC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,81967938,81967938,A,G,P364157_S,ADGRL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89662988,89662988,C,T,P364157_S,GBP4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GBP4,NM_052941:exon2:c.41-1G>A,NA,NA,.,.,D,.,.,.
chr1,100380937,100380937,T,G,P364157_S,AGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,104078926,104078926,G,T,P364157_S,RNPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,104162459,104162459,A,T,P364157_S,AMY2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMY2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118628785,118628785,C,T,P364157_S,SPAG17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,146633911,146633911,A,C,P364157_S,NBPF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF19;PRKAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,149763115,149763115,C,T,P364157_S,HIST2H3DP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HIST2H3DP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,152079818,152079818,G,A,P364157_S,TCHH,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TCHH,NM_007113:c.*43C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153719402,153719402,G,A,P364157_S,INTS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161024738,161024738,C,T,P364157_S,ARHGAP30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,162722994,162722994,A,G,P364157_S,DDR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167402443,167402443,C,T,P364157_S,CD247,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD247,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183711480,183711480,G,A,P364157_S,RGL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196645259,196645259,C,T,P364157_S,CFH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201328949,201328949,G,A,P364157_S,TNNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201346785,201346785,G,A,P364157_S,TNNT2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TNNT2,NM_001001432:c.-4403C>T;NM_001276347:c.-4403C>T;NM_001001430:c.-4403C>T;NM_001276345:c.-4403C>T;NM_000364:c.-4403C>T;NM_001276346:c.-4403C>T;NM_001001431:c.-4403C>T,NA,NA,T,.,N,T,N,T
chr1,228556981,228556981,C,T,P364157_S,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,245865682,245865682,A,C,P364157_S,KIF26B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF26B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247607563,247607563,T,C,P364157_S,NLRP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,249144815,249144815,C,A,P364157_S,ZNF692,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF692,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3832440,3832440,G,A,P364157_S,DCDC2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCDC2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,18767734,18767734,C,G,P364157_S,NT5C1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5C1B;NT5C1B-RDH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44059339,44059339,C,T,P364157_S,ABCG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,62733045,62733045,T,A,P364157_S,TMEM17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71766417,71766417,G,A,P364157_S,DYSF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYSF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91766609,91766609,G,A,P364157_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;LOC107985911,dist=NONE;dist=38574,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95519225,95519225,T,C,P364157_S,ANKRD20A8P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ANKRD20A8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114340511,114340511,G,A,P364157_S,WASH2P,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,WASH2P;MIR1302-3,dist=25;dist=25,NA,NA,NA,NA,NA,NA,NA,NA
chr2,174131485,174131485,G,A,P364157_S,MAP3K20-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MAP3K20-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,185243594,185243594,G,A,P364157_S,MIR548AE1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR548AE1,dist=108,NA,NA,NA,NA,NA,NA,NA,NA
chr2,188248154,188248154,G,C,P364157_S,CALCRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALCRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,192225313,192225313,G,A,P364157_S,MYO1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202215393,202215393,G,A,P364157_S,FLACC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLACC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215301601,215301601,G,A,P364157_S,VWC2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWC2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215839615,215839615,T,A,P364157_S,ABCA12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231103638,231103638,T,C,P364157_S,SP140,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SP140,NM_001005176:c.*50T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr3,5021769,5021769,G,A,P364157_S,BHLHE40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BHLHE40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12944119,12944119,C,T,P364157_S,IQSEC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQSEC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,25664997,25664997,A,G,P364157_S,TOP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,36884064,36884064,T,C,P364157_S,TRANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38287793,38287793,G,T,P364157_S,OXSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45030748,45030748,C,T,P364157_S,EXOSC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,56041463,56041463,G,A,P364157_S,ERC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65479186,65479186,C,T,P364157_S,MAGI1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MAGI1,NM_001365903:exon3:c.550+1G>A;NM_001365904:exon3:c.550+1G>A;NM_015520:exon3:c.550+1G>A;NM_001033057:exon3:c.550+1G>A;NM_004742:exon3:c.550+1G>A;NM_001365905:exon3:c.550+1G>A,NA,NA,.,.,D,.,.,.
chr3,100945892,100945892,G,A,P364157_S,IMPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108897439,108897439,G,A,P364157_S,LINC00488,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00488,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,116728125,116728125,T,C,P364157_S,LINC00901,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00901;LINC02024,dist=77040;dist=669415,NA,NA,T,.,D,T,N,T
chr3,118922918,118922918,T,C,P364157_S,UPK1B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UPK1B,NM_006952:c.*104T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr3,143212671,143212671,C,T,P364157_S,SLC9A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,155860923,155860923,G,A,P364157_S,KCNAB1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KCNAB1,NM_003471:c.-45G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184017563,184017563,A,G,P364157_S,PSMD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194947303,194947303,C,T,P364157_S,XXYLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XXYLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195491128,195491128,C,T,P364157_S,MUC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5617404,5617404,G,A,P364157_S,EVC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EVC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,9390645,9390645,G,A,P364157_S,USP17L6P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,USP17L6P;DEFB131A,dist=19849;dist=55615,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57194068,57194068,G,A,P364157_S,KIAA1211,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KIAA1211,NM_020722:c.*98G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76794506,76794506,T,C,P364157_S,PPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,169343067,169343067,G,A,P364157_S,DDX60L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX60L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,178354353,178354353,C,T,P364157_S,AGA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190874281,190874281,G,T,P364157_S,FRG1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FRG1,NM_004477:exon4:c.317+1G>T,NA,NA,.,.,D,.,.,.
chr5,35694482,35694482,A,T,P364157_S,SPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149434054,149434054,C,T,P364157_S,CSF1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSF1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,159686471,159686471,G,A,P364157_S,CCNJL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNJL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,161292664,161292664,G,T,P364157_S,GABRA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,161292665,161292665,G,T,P364157_S,GABRA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176894715,176894715,C,T,P364157_S,DBN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178155858,178155858,C,G,P364157_S,ZNF354A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF354A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,11306243,11306243,C,G,P364157_S,NEDD9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NEDD9,NM_001142393:c.-7G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42658961,42658961,C,T,P364157_S,UBR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UBR2,NM_015255:c.*50C>T;NM_001363705:c.*50C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,46995389,46995389,G,C,P364157_S,ADGRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55933973,55933973,C,T,P364157_S,COL21A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL21A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,76714982,76714982,A,G,P364157_S,IMPG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109762923,109762923,C,T,P364157_S,SMPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,148710453,148710453,G,A,P364157_S,SASH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SASH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161532794,161532794,C,T,P364157_S,MAP3K4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23750165,23750165,C,T,P364157_S,STK31,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STK31,NM_032944:c.-1572C>T;NM_001260504:c.-1572C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27192943,27192943,C,T,P364157_S,HOXA-AS3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HOXA-AS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30961648,30961648,C,T,P364157_S,AQP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AQP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32969764,32969764,G,A,P364157_S,RP9P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RP9P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38725419,38725419,C,T,P364157_S,FAM183BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FAM183BP,NA,NA,NA,T,N,N,.,N,T
chr7,42066038,42066038,A,G,P364157_S,GLI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,49842512,49842512,C,T,P364157_S,VWC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75806390,75806390,G,A,P364157_S,GTF2IP7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GTF2IP7;SRRM3,dist=68310;dist=24824,NA,NA,NA,NA,NA,NA,NA,NA
chr7,93125306,93125306,A,G,P364157_S,CALCR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALCR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98254231,98254231,C,T,P364157_S,NPTX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPTX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100275080,100275080,C,T,P364157_S,GNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122763176,122763176,T,C,P364157_S,SLC13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127637696,127637696,G,A,P364157_S,SND1-IT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SND1-IT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,131346936,131346936,C,T,P364157_S,PODXL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PODXL;LOC101928782,dist=105549;dist=248043,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134261215,134261215,C,A,P364157_S,AKR1B15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1B15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,135413621,135413621,G,A,P364157_S,SLC13A4,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SLC13A4;FAM180A,dist=687;dist=719,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142206749,142206749,T,G,P364157_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=49331;dist=167382,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142636299,142636299,T,A,P364157_S,LLCFC1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LLCFC1,dist=282,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149485007,149485007,T,C,P364157_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10107947,10107947,T,C,P364157_S,MSRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSRA,NA,NA,NA,D,.,D,.,N,T
chr8,18513366,18513366,G,A,P364157_S,PSD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,24200453,24200453,G,T,P364157_S,LOC101929294,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929294,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,28998150,28998150,G,A,P364157_S,KIF13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42855351,42855351,G,A,P364157_S,HOOK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOOK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,59872568,59872568,C,T,P364157_S,TOX,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TOX,NM_014729:exon2:c.103-1G>A,NA,NA,.,.,D,.,.,.
chr8,69046590,69046590,A,T,P364157_S,PREX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,85833109,85833109,A,T,P364157_S,RALYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,87638078,87638078,C,T,P364157_S,CNGB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNGB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95416493,95416493,A,G,P364157_S,RAD54B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD54B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120595949,120595949,T,A,P364157_S,ENPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,26982384,26982384,C,T,P364157_S,IFT74,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT74,NA,NA,NA,D,.,N,T,N,T
chr9,34458974,34458974,G,T,P364157_S,DNAI1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DNAI1,NM_001281428:c.-30G>T;NM_012144:c.-30G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95396794,95396794,A,G,P364157_S,IPPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100774887,100774887,G,C,P364157_S,ANP32B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANP32B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125877451,125877451,G,A,P364157_S,MIR600HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR600HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138586021,138586021,G,A,P364157_S,SOHLH1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SOHLH1,NM_001012415:c.*171C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140053163,140053163,G,A,P364157_S,GRIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140991231,140991231,G,A,P364157_S,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,17204264,17204264,A,T,P364157_S,TRDMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRDMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,32580026,32580026,C,T,P364157_S,EPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,42907201,42907201,G,A,P364157_S,CCNYL2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CCNYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50824716,50824716,G,A,P364157_S,CHAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50902401,50902401,G,A,P364157_S,C10orf53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C10orf53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105073926,105073926,G,A,P364157_S,PCGF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCGF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,534171,534171,C,T,P364157_S,HRAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HRAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,24936019,24936019,C,G,P364157_S,LUZP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LUZP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49140429,49140429,G,A,P364157_S,TRIM64C,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM64C;FOLH1,dist=59765;dist=26215,NA,NA,NA,NA,NA,NA,NA,NA
chr11,55864636,55864636,T,C,P364157_S,OR8I2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR8I2;OR8H2,dist=2920;dist=7883,NA,NA,NA,NA,NA,NA,NA,NA
chr11,55864872,55864872,C,G,P364157_S,OR8I2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR8I2;OR8H2,dist=3156;dist=7647,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59554614,59554614,G,A,P364157_S,STX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65161453,65161453,G,A,P364157_S,FRMD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75442361,75442361,C,T,P364157_S,MOGAT2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MOGAT2,NM_025098:c.*30C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89891450,89891450,A,G,P364157_S,NAALAD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAALAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108202318,108202318,A,G,P364157_S,ATM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATM;C11orf65,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118347478,118347478,A,G,P364157_S,KMT2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118520918,118520918,C,T,P364157_S,PHLDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119510740,119510740,G,A,P364157_S,NECTIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECTIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1995388,1995388,C,T,P364157_S,CACNA2D4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CACNA2D4,NM_172364:exon8:c.993+1G>A,NA,NA,.,.,D,.,.,.
chr12,7882374,7882374,G,A,P364157_S,CLEC4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18889123,18889123,A,T,P364157_S,PLCZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,19653002,19653002,T,C,P364157_S,AEBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AEBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,25705714,25705714,G,C,P364157_S,LMNTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMNTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48359241,48359241,A,G,P364157_S,TMEM106C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM106C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52404995,52404995,A,G,P364157_S,GRASP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRASP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53045341,53045341,C,T,P364157_S,KRT2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KRT2,NM_000423:exon1:c.585+1G>A,NA,NA,.,.,D,.,.,.
chr12,57577442,57577442,C,A,P364157_S,LRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58142195,58142195,G,A,P364157_S,CDK4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDK4;TSPAN31,NM_000075:c.*113C>T;NM_005981:c.*1122G>A;NM_001330169:c.*1122G>A;NM_001330168:c.*1122G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,106734570,106734570,T,A,P364157_S,TCP11L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCP11L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,107714464,107714464,C,T,P364157_S,BTBD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTBD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,108028987,108028987,C,T,P364157_S,BTBD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTBD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110351063,110351063,A,G,P364157_S,TCHP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCHP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113745768,113745768,T,G,P364157_S,SLC8B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC8B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117725837,117725837,C,T,P364157_S,NOS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122281861,122281861,C,T,P364157_S,HPD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,20601263,20601263,T,G,P364157_S,ZMYM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,32526707,32526707,C,T,P364157_S,EEF1DP3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,EEF1DP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,39605976,39605976,G,A,P364157_S,PROSER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROSER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,44970068,44970068,C,T,P364157_S,SERP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,97079617,97079617,A,C,P364157_S,HS6ST3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HS6ST3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,19889819,19889819,C,T,P364157_S,BMS1P22,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BMS1P22;DUXAP10;DUXAP9,NA,NA,NA,.,.,.,.,.,.
chr14,20010325,20010325,C,T,P364157_S,LOC100508046,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100508046,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21851693,21851693,G,A,P364157_S,SUPT16H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPT16H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24727604,24727604,C,T,P364157_S,TGM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94912983,94912983,A,G,P364157_S,SERPINA11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINA11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100317182,100317182,T,C,P364157_S,EML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100996508,100996508,C,T,P364157_S,WDR25,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WDR25,NM_001161476:c.*130C>T;NM_001350948:c.*130C>T;NM_001350949:c.*130C>T;NM_001350950:c.*130C>T;NM_024515:c.*130C>T;NM_001350947:c.*130C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106691688,106691688,C,A,P364157_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=253330;dist=52581,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106691778,106691778,T,A,P364157_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=253420;dist=52491,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50331164,50331164,G,A,P364157_S,ATP8B4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52420545,52420545,C,T,P364157_S,GNB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,58957417,58957417,G,A,P364157_S,ADAM10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72978946,72978946,G,A,P364157_S,BBS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78572315,78572315,C,T,P364157_S,DNAJA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85198311,85198311,C,T,P364157_S,WDR73,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,WDR73;NMB,dist=737;dist=52,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101152660,101152660,C,T,P364157_S,ASB7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1312825,1312825,C,T,P364157_S,TPSD1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TPSD1;UBE2I,dist=3816;dist=46328,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1688105,1688105,T,C,P364157_S,CRAMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRAMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2495389,2495389,G,A,P364157_S,CCNF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3294647,3294647,C,T,P364157_S,MEFV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEFV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20599444,20599444,C,A,P364157_S,ACSM2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ACSM2B;ACSM1,dist=11755;dist=35113,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24873844,24873844,C,A,P364157_S,SLC5A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27269185,27269185,G,A,P364157_S,NSMCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSMCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27457210,27457210,T,C,P364157_S,IL21R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL21R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31004070,31004070,G,A,P364157_S,STX1B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STX1B,NM_052874:c.*72C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,46773949,46773949,G,A,P364157_S,MYLK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYLK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66770215,66770215,G,A,P364157_S,DYNC1LI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1LI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68592140,68592140,G,A,P364157_S,ZFP90,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP90,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84189390,84189390,A,G,P364157_S,DNAAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2596045,2596045,C,G,P364157_S,CLUH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLUH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7463119,7463119,G,A,P364157_S,TNFSF12-TNFSF13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFSF12-TNFSF13;TNFSF13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,21206274,21206274,G,A,P364157_S,MAP2K3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27401695,27401695,G,A,P364157_S,TIAF1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TIAF1;MYO18A,NM_004740:c.-478C>T;NM_001346765:c.*93C>T;NM_001346767:c.*93C>T;NM_203318:c.*93C>T;NM_078471:c.*93C>T;NM_001346766:c.*93C>T;NM_001346768:c.*93C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34183340,34183340,C,T,P364157_S,HEATR9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34499843,34499843,G,A,P364157_S,CCL4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CCL4;CCL3L1,dist=66836;dist=22426,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38520309,38520309,G,A,P364157_S,GJD3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GJD3,NM_152219:c.-242C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39738652,39738652,G,A,P364157_S,KRT14,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRT14,NM_000526:c.*35C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,54231013,54231013,C,T,P364157_S,ANKFN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKFN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66522062,66522062,C,T,P364157_S,PRKAR1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKAR1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72305748,72305748,C,T,P364157_S,DNAI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72868265,72868265,C,T,P364157_S,FDXR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FDXR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73500438,73500438,C,T,P364157_S,CASKIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASKIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73746744,73746744,C,T,P364157_S,ITGB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21424928,21424928,T,G,P364157_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,47807516,47807516,G,A,P364157_S,MBD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,48248247,48248247,G,A,P364157_S,MAPK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,49088485,49088485,C,T,P364157_S,LINC01630,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01630,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3110103,3110103,T,C,P364157_S,GNA11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNA11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6750244,6750244,C,G,P364157_S,TRIP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7626551,7626551,C,T,P364157_S,PNPLA6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PNPLA6,NM_006702:c.*103C>T;NM_001166112:c.*103C>T;NM_001166111:c.*103C>T;NM_001166113:c.*103C>T;NM_001166114:c.*103C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10166056,10166056,T,C,P364157_S,C3P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C3P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15236003,15236003,C,T,P364157_S,ILVBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ILVBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19855532,19855532,G,A,P364157_S,ZNF14,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF14;LINC00663,dist=11611;dist=11649,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23329454,23329454,A,G,P364157_S,ZNF730,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF730,NM_001277403:c.*96A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39212096,39212096,C,T,P364157_S,ACTN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39381517,39381517,T,C,P364157_S,SIRT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39882048,39882048,G,T,P364157_S,MED29,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MED29,NM_017592:c.-15G>T;NM_001317770:c.-15G>T,NA,NA,T,N,N,.,N,T
chr19,40556266,40556266,T,C,P364157_S,ZNF780B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF780B,NM_001005851:c.-27A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45020925,45020925,G,A,P364157_S,CEACAM20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47683663,47683663,G,T,P364157_S,SAE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49227791,49227791,G,A,P364157_S,RASIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51380369,51380369,C,T,P364157_S,KLK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51391004,51391004,C,T,P364157_S,KLKP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,KLKP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53819048,53819048,C,G,P364157_S,BIRC8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,BIRC8;ZNF845,dist=24361;dist=17924,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56235324,56235324,G,A,P364157_S,NLRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56691876,56691876,A,G,P364157_S,GALP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58968031,58968031,G,A,P364157_S,ZNF324B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF324B,NM_207395:c.*85G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3008340,3008340,C,T,P364157_S,PTPRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,9376043,9376043,G,A,P364157_S,PLCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18123021,18123021,T,C,P364157_S,KAT14,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KAT14;PET117,NM_020536:c.-284T>C;NM_001164811:c.*20T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr20,21367329,21367329,C,A,P364157_S,XRN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31374618,31374618,G,A,P364157_S,DNMT3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNMT3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31661368,31661368,G,A,P364157_S,BPIFB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52591992,52591992,G,A,P364157_S,BCAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,55025540,55025540,T,C,P364157_S,CASS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62161358,62161358,G,A,P364157_S,PTK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,31852336,31852336,T,C,P364157_S,KRTAP19-1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTAP19-1,NM_181607:c.*28A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38302534,38302534,C,T,P364157_S,HLCS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLCS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38444591,38444591,A,G,P364157_S,PIGP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PIGP,NM_016430:c.-143T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr21,42762435,42762435,G,A,P364157_S,MX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47534012,47534012,G,A,P364157_S,COL6A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20379922,20379922,C,T,P364157_S,FAM230G,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM230G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23115024,23115024,G,A,P364157_S,GGTLC2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGTLC2;MIR650,dist=124656;dist=50246,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24580600,24580600,C,T,P364157_S,SUSD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUSD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24891365,24891365,C,T,P364157_S,UPB1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,UPB1,NM_016327:c.-7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37580324,37580324,C,T,P364157_S,C1QTNF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QTNF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42140939,42140939,C,G,P364157_S,MEI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50926549,50926549,G,A,P364157_S,MIOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,14933727,14933727,C,T,P364157_S,MOSPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOSPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,21444569,21444569,G,T,P364157_S,CNKSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNKSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69649640,69649640,C,T,P364157_S,GDPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73042617,73042617,C,T,P364157_S,TSIX,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TSIX;XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100106159,100106159,T,C,P364157_S,NOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118207694,118207694,C,A,P364157_S,LONRF3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LONRF3;KIAA1210,dist=55376;dist=4904,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153039571,153039571,C,A,P364157_S,PLXNB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,14220186,14220186,A,G,P376588_F,PRDM2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRDM2;KAZN-AS1,dist=68612;dist=455264,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16891601,16891601,T,C,P376588_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22305047,22305047,T,C,P376588_F,CELA3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELA3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23763262,23763262,C,T,P376588_F,ASAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,71331456,71331456,G,A,P376588_F,PTGER3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGER3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156133112,156133112,G,A,P376588_F,SEMA4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200869519,200869519,G,A,P376588_F,INAVA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INAVA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26739475,26739475,G,A,P376588_F,OTOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73490801,73490801,C,T,P376588_F,FBXO41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91937662,91937662,A,G,P376588_F,LOC101927050,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101927050;GGT8P,dist=37526;dist=25706,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219538327,219538327,T,G,P376588_F,STK36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,32201293,32201293,G,A,P376588_F,GPD1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPD1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,59520,59520,T,C,P376588_F,ZNF595,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF595;ZNF718,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119551924,119551924,C,T,P376588_F,LOC729218,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC729218,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156665336,156665336,C,T,P376588_F,ITK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179528678,179528678,G,A,P376588_F,RASGEF1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGEF1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,4020320,4020320,C,T,P376588_F,FAM50B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM50B;PRPF4B,dist=168769;dist=1214,NA,NA,NA,NA,NA,NA,NA,NA
chr6,25081994,25081994,C,T,P376588_F,CMAHP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CMAHP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56331068,56331068,G,A,P376588_F,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,108225788,108225788,C,T,P376588_F,SEC63,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152443523,152443523,C,T,P376588_F,SYNE1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SYNE1,NM_001347702:c.*48G>A;NM_001347701:c.*253G>A;NM_033071:c.*48G>A;NM_182961:c.*48G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,822139,822139,G,C,P376588_F,DNAAF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAAF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38357016,38357016,T,C,P376588_F,TARP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TARP;TRG-AS1,dist=43768;dist=24162,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38791595,38791595,C,T,P376588_F,VPS41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143215599,143215599,C,T,P376588_F,EPHA1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,EPHA1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30032507,30032507,C,T,P376588_F,DCTN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCTN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136081482,136081482,C,G,P376588_F,OBP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,141071195,141071195,C,T,P376588_F,TUBBP5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TUBBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95238051,95238051,G,A,P376588_F,MYOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102283951,102283951,G,A,P376588_F,NDUFB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126185691,126185691,C,T,P376588_F,LHPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LHPP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3108737,3108737,G,A,P376588_F,OSBPL5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OSBPL5,NM_001144063:c.*698C>T;NM_020896:c.*698C>T;NM_145638:c.*698C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49104575,49104575,A,T,P376588_F,TRIM64C,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM64C;FOLH1,dist=23911;dist=62069,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59189385,59189385,G,T,P376588_F,OR5A2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR5A2,dist=67,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65634561,65634561,G,A,P376588_F,EFEMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFEMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,79113184,79113184,C,G,P376588_F,TENM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6955785,6955785,G,A,P376588_F,GNB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8347318,8347318,T,C,P376588_F,FAM66C,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FAM66C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,23793681,23793681,C,T,P376588_F,SOX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113595301,113595301,G,T,P376588_F,DDX54,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DDX54,NM_001111322:c.*1381C>A;NM_024072:c.*1381C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122107451,122107451,C,T,P376588_F,MORN3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MORN3,NM_173855:c.-62G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,130184347,130184347,C,T,P376588_F,TMEM132D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM132D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114009845,114009845,G,A,P376588_F,GRTP1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GRTP1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75188726,75188726,C,G,P376588_F,MPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPI,NA,NA,NA,T,.,N,D,N,.
chr15,76083910,76083910,C,T,P376588_F,MIR4313,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4313;UBE2Q2,dist=29254;dist=51878,NA,NA,NA,NA,NA,NA,NA,NA
chr16,825312,825312,G,A,P376588_F,MIR662,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR662;RPUSD1,dist=5035;dist=9662,NA,NA,NA,NA,NA,NA,NA,NA
chr16,12621069,12621069,G,A,P376588_F,SNX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29848379,29848379,G,A,P376588_F,MVP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MVP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29989756,29989756,C,G,P376588_F,TAOK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAOK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,65006973,65006973,C,A,P376588_F,CDH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68336508,68336508,C,T,P376588_F,SLC7A6OS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A6OS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5066319,5066319,G,A,P376588_F,USP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28323433,28323433,G,T,P376588_F,EFCAB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45664593,45664593,C,T,P376588_F,NPEPPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPEPPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73564778,73564778,G,A,P376588_F,LLGL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LLGL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76557087,76557087,G,A,P376588_F,DNAH17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6971746,6971746,C,T,P376588_F,LAMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,13825665,13825665,C,T,P376588_F,MC5R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MC5R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,57363763,57363763,G,A,P376588_F,CCBE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCBE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1222078,1222078,C,T,P376588_F,STK11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11022678,11022678,C,G,P376588_F,CARM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33490667,33490667,G,A,P376588_F,RHPN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHPN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45854872,45854872,C,T,P376588_F,ERCC2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ERCC2,NM_000400:c.*15G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49485937,49485937,C,A,P376588_F,GYS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55236642,55236642,G,A,P376588_F,KIR3DL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIR3DL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56702362,56702362,G,A,P376588_F,ZSCAN5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56735929,56735929,C,T,P376588_F,ZSCAN5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25270668,25270668,G,A,P376588_F,PYGB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYGB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48455931,48455931,G,A,P376588_F,SLC9A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60706642,60706642,G,A,P376588_F,LSM14B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSM14B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43679346,43679346,G,T,P376588_F,ABCG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19484749,19484749,C,T,P376588_F,CDC45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,37553806,37553806,G,A,P376588_F,XK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,85767714,85767714,C,T,P376588_F,DACH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DACH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16913423,16913423,A,C,P376588_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107042610,107042610,G,T,P376588_S,RGPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197792151,197792151,A,C,P376588_S,PGAP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PGAP1,dist=720,NA,NA,NA,NA,NA,NA,NA,NA
chr3,75420430,75420430,G,T,P376588_S,MIR4444-1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4444-1;FAM86DP,dist=156731;dist=50273,NA,NA,NA,NA,NA,NA,NA,NA
chr5,21491442,21491442,A,G,P376588_S,GUSBP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GUSBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,44388257,44388257,A,C,P376588_S,FGF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,156468376,156468376,C,T,P376588_S,RNF32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136081482,136081482,C,G,P376588_S,OBP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,21106776,21106776,G,A,P376588_S,NEBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132329749,132329749,C,T,P376588_S,MMP17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,103317358,103317358,T,G,P376588_S,TPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51710551,51710551,A,T,P376588_S,TMX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106994129,106994129,A,T,P376588_S,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=42600;dist=264971,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64446727,64446727,C,T,P376588_S,SNX22,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNX22,NM_024798:c.*20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,677317,677317,G,C,P376588_S,RAB40C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB40C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,48201710,48201710,C,T,P376588_S,ABCC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49485937,49485937,C,A,P376588_S,GYS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57246484,57246484,G,A,P376588_S,STX16-NPEPL1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,STX16-NPEPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46705895,46705895,G,A,P376588_S,POFUT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POFUT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20127618,20127618,C,T,P376588_S,ZDHHC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,85767714,85767714,C,T,P376588_S,DACH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DACH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,14673,14673,G,C,P379846_F,WASH7P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH7P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,4829880,4829880,C,T,P379846_F,AJAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AJAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6196747,6196747,G,A,P379846_F,CHD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45232641,45232641,G,A,P379846_F,KIF2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55620334,55620334,G,T,P379846_F,USP24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,116193886,116193886,C,T,P379846_F,VANGL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VANGL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155041315,155041315,C,T,P379846_F,EFNA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFNA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157772055,157772055,G,A,P379846_F,FCRL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,170964754,170964754,G,C,P379846_F,MROH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165987728,165987728,C,T,P379846_F,SCN3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179556739,179556739,G,A,P379846_F,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207611207,207611207,T,G,P379846_F,MDH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,224866707,224866707,T,C,P379846_F,SERPINE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231266252,231266252,G,A,P379846_F,SP140L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231266272,231266272,A,G,P379846_F,SP140L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,89390335,89390335,G,A,P379846_F,EPHA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,97278479,97278479,G,A,P379846_F,EPHA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,100559627,100559627,A,G,P379846_F,ABI3BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABI3BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130309972,130309972,C,A,P379846_F,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138117203,138117203,G,A,P379846_F,MRAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164730902,164730902,T,A,P379846_F,SI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,172694921,172694921,C,A,P379846_F,SPATA16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25028654,25028654,G,A,P379846_F,LGI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,122148591,122148591,T,C,P379846_F,TNIP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TNIP3,NM_001244764:c.-49A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75596812,75596812,C,A,P379846_F,SV2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SV2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76250024,76250024,C,T,P379846_F,CRHBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRHBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139623006,139623006,C,A,P379846_F,CYSTM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYSTM1,NM_032412:c.*10C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43026068,43026068,C,T,P379846_F,MRPL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57512352,57512352,A,T,P379846_F,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88385497,88385497,G,C,P379846_F,AKIRIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKIRIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160132849,160132849,T,C,P379846_F,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,16566517,16566517,C,T,P379846_F,LRRC72,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LRRC72,NM_001195280:c.-61C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,35180482,35180482,T,C,P379846_F,DPY19L2P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DPY19L2P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44280558,44280558,G,A,P379846_F,CAMK2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50190992,50190992,A,C,P379846_F,SPATA48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50671999,50671999,C,A,P379846_F,GRB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,74152457,74152457,G,A,P379846_F,GTF2I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,124116735,124116735,T,A,P379846_F,LOC101928211,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928211;GPR37,dist=124585;dist=267204,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41954495,41954495,C,T,P379846_F,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68430400,68430400,C,T,P379846_F,FRG1JP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68437718,68437718,C,A,P379846_F,FRG1JP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69083093,69083093,A,G,P379846_F,FRG1HP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1HP;PGM5P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69777504,69777504,A,C,P379846_F,LOC101928381,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928381;FOXD4L5,dist=19720;dist=398203,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69777505,69777505,G,A,P379846_F,LOC101928381,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928381;FOXD4L5,dist=19721;dist=398202,NA,NA,NA,NA,NA,NA,NA,NA
chr9,78965614,78965614,C,T,P379846_F,PCSK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139650267,139650267,A,G,P379846_F,LCN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75757905,75757905,C,T,P379846_F,VCL,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,VCL,NM_014000:c.-61C>T;NM_003373:c.-61C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7695525,7695525,C,T,P379846_F,CYB5R2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CYB5R2,dist=27,NA,NA,T,.,.,D,N,T
chr11,17121656,17121656,G,A,P379846_F,PIK3C2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3C2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49140648,49140648,T,A,P379846_F,TRIM64C,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM64C;FOLH1,dist=59984;dist=25996,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62123672,62123672,G,A,P379846_F,ASRGL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASRGL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62505690,62505690,T,A,P379846_F,TTC9C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC9C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75278094,75278094,C,T,P379846_F,SERPINH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,101344576,101344576,C,T,P379846_F,TRPC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,114578219,114578219,C,T,P379846_F,NXPE2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,NXPE2,dist=428,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9353475,9353475,C,T,P379846_F,PZP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PZP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109294085,109294085,C,T,P379846_F,DAO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,73345876,73345876,C,T,P379846_F,DIS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113980207,113980207,G,A,P379846_F,GRTP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRTP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,19889878,19889878,G,T,P379846_F,BMS1P22,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BMS1P22;DUXAP10;DUXAP9,NA,NA,NA,.,.,.,.,.,.
chr14,20012798,20012798,T,A,P379846_F,POTEM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24112440,24112440,C,T,P379846_F,DHRS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91883230,91883230,G,A,P379846_F,CCDC88C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101450999,101450999,G,A,P379846_F,MEG8,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MEG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104583800,104583800,G,A,P379846_F,MIR203A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR203A;MIR203B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106235887,106235887,C,T,P379846_F,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=96743;dist=88406,NA,NA,NA,NA,NA,NA,NA,NA
chr14,107198923,107198923,C,T,P379846_F,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=247394;dist=60177,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44021075,44021075,C,T,P379846_F,STRCP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,STRCP1;CATSPER2P1,dist=10617;dist=7071,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78212571,78212571,G,A,P379846_F,LOC645752,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC645752,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90454176,90454176,G,A,P379846_F,ARPIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARPIN;ARPIN-AP3S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102295647,102295647,C,A,P379846_F,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=8574;dist=50276,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102506394,102506394,C,T,P379846_F,WASH3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,525016,525016,C,T,P379846_F,RAB11FIP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RAB11FIP3,NM_001142272:c.-7536C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14352066,14352066,C,T,P379846_F,MRTFB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRTFB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,48311514,48311514,G,A,P379846_F,LONP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LONP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55866900,55866900,T,C,P379846_F,CES1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CES1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57760275,57760275,G,A,P379846_F,DRC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89212477,89212477,G,A,P379846_F,ACSF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89389827,89389827,G,A,P379846_F,ANKRD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD11;LOC100287036,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,14139855,14139855,C,T,P379846_F,CDRT15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDRT15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15527006,15527006,A,C,P379846_F,CDRT1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CDRT1;TRIM16,dist=3988;dist=4274,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33807283,33807283,C,T,P379846_F,SLFN12L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLFN12L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48631462,48631462,G,A,P379846_F,SPATA20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48777852,48777852,T,C,P379846_F,ANKRD40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60344513,60344513,G,A,P379846_F,TBC1D3P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TBC1D3P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6887094,6887094,A,T,P379846_F,ARHGAP28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12254814,12254814,C,T,P379846_F,CIDEA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CIDEA,NM_001318383:c.-2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43591131,43591131,C,T,P379846_F,PSTPIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSTPIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11527164,11527164,C,T,P379846_F,RGL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18245895,18245895,G,A,P379846_F,MAST3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAST3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,30019169,30019169,C,A,P379846_F,VSTM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36135038,36135038,T,G,P379846_F,ETV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37849006,37849006,G,A,P379846_F,ZNF875,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF875,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45974344,45974344,C,T,P379846_F,FOSB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOSB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62178345,62178345,C,T,P379846_F,SRMS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRMS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10959881,10959881,G,A,P379846_F,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11021042,11021042,G,T,P379846_F,BAGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,32127445,32127445,G,A,P379846_F,KRTAP21-1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTAP21-1,NM_181619:c.*12C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46199068,46199068,G,A,P379846_F,UBE2G2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2G2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18842291,18842291,G,A,P379846_F,LOC102725072,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102725072,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18898908,18898908,A,G,P379846_F,DGCR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGCR6;LOC102724770,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40061498,40061498,G,A,P379846_F,CACNA1I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44465060,44465060,C,T,P379846_F,PARVB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARVB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,77914055,77914055,G,A,P379846_F,RTL3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RTL3,NM_152694:c.-138C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133547830,133547830,C,T,P379846_F,PHF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,136651283,136651283,G,A,P379846_F,ZIC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZIC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6196747,6196747,G,A,P379846_S,CHD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17282703,17282703,C,T,P379846_S,CROCC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CROCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55620334,55620334,G,T,P379846_S,USP24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209230,145209230,G,C,P379846_S,NOTCH2NLR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,NOTCH2NLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157772055,157772055,G,A,P379846_S,FCRL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228295651,228295651,G,A,P379846_S,MRPL55,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,248285841,248285841,C,G,P379846_S,OR2M1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR2M1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,248285985,248285985,T,A,P379846_S,OR2M1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR2M1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71191837,71191837,C,T,P379846_S,ATP6V1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179556739,179556739,G,A,P379846_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207611207,207611207,T,G,P379846_S,MDH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,54952366,54952366,T,C,P379846_S,LRTM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRTM1,NM_001304389:c.*120A>G;NM_020678:c.*120A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,97278479,97278479,G,A,P379846_S,EPHA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,100559627,100559627,A,G,P379846_S,ABI3BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABI3BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130309972,130309972,C,A,P379846_S,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164730902,164730902,T,A,P379846_S,SI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195711423,195711423,A,G,P379846_S,SDHAP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SDHAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,995956,995956,C,T,P379846_S,IDUA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDUA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,15517756,15517756,A,T,P379846_S,CC2D2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CC2D2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,17874819,17874819,A,C,P379846_S,LCORL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCORL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,122148591,122148591,T,C,P379846_S,TNIP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TNIP3,NM_001244764:c.-49A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75596812,75596812,C,A,P379846_S,SV2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SV2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76250024,76250024,C,T,P379846_S,CRHBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRHBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139623006,139623006,C,A,P379846_S,CYSTM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYSTM1,NM_032412:c.*10C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109659716,109659716,G,A,P379846_S,CCDC162P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CCDC162P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144665554,144665554,G,A,P379846_S,UTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,16566517,16566517,C,T,P379846_S,LRRC72,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LRRC72,NM_001195280:c.-61C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50671999,50671999,C,A,P379846_S,GRB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,66563740,66563740,A,T,P379846_S,TYW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,74152457,74152457,G,A,P379846_S,GTF2I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87908654,87908654,C,A,P379846_S,STEAP4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STEAP4,NM_001205315:c.*59G>T;NM_024636:c.*59G>T;NM_001205316:c.*59G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,124116735,124116735,T,A,P379846_S,LOC101928211,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928211;GPR37,dist=124585;dist=267204,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138853327,138853327,A,C,P379846_S,TTC26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,94147074,94147074,G,A,P379846_S,C8orf87,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C8orf87,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133046859,133046859,C,A,P379846_S,OC90,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OC90,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,21206427,21206427,G,A,P379846_S,IFNA10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IFNA10,NM_002171:c.*100C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68430400,68430400,C,T,P379846_S,FRG1JP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130884766,130884766,G,A,P379846_S,PTGES2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGES2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5631536,5631536,G,A,P379846_S,TRIM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM6;TRIM6-TRIM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62505690,62505690,T,A,P379846_S,TTC9C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC9C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67379332,67379332,G,T,P379846_S,NDUFV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75278094,75278094,C,T,P379846_S,SERPINH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56720809,56720809,C,T,P379846_S,PAN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113980207,113980207,G,A,P379846_S,GRTP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRTP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20012798,20012798,T,A,P379846_S,POTEM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24112440,24112440,C,T,P379846_S,DHRS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,70712618,70712618,C,A,P379846_S,ADAM21P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ADAM21P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104583800,104583800,G,A,P379846_S,MIR203A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR203A;MIR203B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106691688,106691688,C,A,P379846_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=253330;dist=52581,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106691778,106691778,T,A,P379846_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=253420;dist=52491,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106994128,106994128,A,C,P379846_S,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=42599;dist=264972,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34102648,34102648,C,T,P379846_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,48777475,48777475,T,A,P379846_S,FBN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22159024,22159024,T,G,P379846_S,VWA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55866900,55866900,T,C,P379846_S,CES1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CES1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67271126,67271126,G,A,P379846_S,FHOD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHOD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,14139855,14139855,C,T,P379846_S,CDRT15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDRT15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27010846,27010846,G,A,P379846_S,SUPT6H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPT6H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29051234,29051234,C,T,P379846_S,SUZ12P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SUZ12P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40384212,40384212,C,T,P379846_S,STAT5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48625833,48625833,G,T,P379846_S,SPATA20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48777852,48777852,T,C,P379846_S,ANKRD40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6887094,6887094,A,T,P379846_S,ARHGAP28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12254814,12254814,C,T,P379846_S,CIDEA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CIDEA,NM_001318383:c.-2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14186389,14186389,C,T,P379846_S,ANKRD20A5P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ANKRD20A5P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14186391,14186391,G,C,P379846_S,ANKRD20A5P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ANKRD20A5P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43591131,43591131,C,T,P379846_S,PSTPIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSTPIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,47796534,47796534,G,A,P379846_S,MBD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MBD1,NM_001204137:c.*1337C>T;NM_001204140:c.*1337C>T;NM_001204138:c.*1337C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43414731,43414731,C,T,P379846_S,PSG6,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PSG6,NM_001031850:exon3:c.706+1G>A;NM_002782:exon3:c.706+1G>A,NA,NA,.,.,N,.,.,.
chr19,45974344,45974344,C,T,P379846_S,FOSB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOSB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49336033,49336033,G,A,P379846_S,HSD17B14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55441860,55441860,C,T,P379846_S,NLRP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33574898,33574898,G,A,P379846_S,MYH7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,148627166,148627166,C,T,P379846_S,CXorf40A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CXorf40A,NM_001324275:c.-11C>T;NM_001324274:c.-11C>T;NM_001324276:c.-11C>T;NM_001324279:c.-11C>T;NM_001171907:c.-11C>T;NM_001171908:c.-11C>T;NM_001324277:c.-11C>T;NM_001324278:c.-11C>T;NM_001324280:c.-11C>T;NM_178124:c.-11C>T;NM_001171909:c.-11C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11206963,11206963,G,C,P388862_F,MTOR-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MTOR-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16893042,16893042,T,A,P388862_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47614550,47614550,C,T,P388862_F,CYP4A22,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYP4A22,NM_001010969:c.*81C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65045764,65045764,G,A,P388862_F,CACHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89587421,89587421,C,T,P388862_F,GBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,143210200,143210200,T,C,P388862_F,LOC102723769,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC102723769;RNVU1-1,dist=7961;dist=436814,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205495335,205495335,C,T,P388862_F,CDK18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,216172116,216172116,T,G,P388862_F,USH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228402847,228402847,C,T,P388862_F,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37009057,37009057,G,A,P388862_F,VIT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71191493,71191493,C,T,P388862_F,ATP6V1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73118155,73118155,G,A,P388862_F,SPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80093459,80093459,C,T,P388862_F,CTNNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,100912077,100912077,G,A,P388862_F,LONRF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LONRF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107042620,107042620,C,T,P388862_F,RGPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,127659502,127659502,G,A,P388862_F,TEX51,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TEX51,NM_001322244:c.*57G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9719072,9719072,G,A,P388862_F,MTMR14,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MTMR14,NM_022485:exon8:c.822+1G>A;NM_001077526:exon8:c.822+1G>A;NM_001077525:exon8:c.822+1G>A,NA,NA,.,.,D,.,.,.
chr3,42190858,42190858,A,G,P388862_F,TRAK1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TRAK1,NM_001349248:c.-170A>G;NM_001349249:c.-170A>G;NM_001265609:c.-170A>G;NM_001265610:c.-170A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58416686,58416686,G,A,P388862_F,PDHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132297612,132297612,T,C,P388862_F,NPHP3-ACAD11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NPHP3-ACAD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195400654,195400654,T,C,P388862_F,SDHAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SDHAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197846736,197846736,G,C,P388862_F,ANKRD18DP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANKRD18DP;FAM157B,dist=39194;dist=33174,NA,NA,NA,NA,NA,NA,NA,NA
chr4,7716110,7716110,G,A,P388862_F,SORCS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORCS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,9240880,9240880,G,A,P388862_F,USP17L15,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,USP17L15;USP17L17,dist=2820;dist=4725,NA,NA,NA,NA,NA,NA,NA,NA
chr4,145629482,145629482,C,T,P388862_F,HHIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,160264662,160264662,G,A,P388862_F,RAPGEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904414,190904414,T,C,P388862_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20068;dist=41092,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904448,190904448,C,T,P388862_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20102;dist=41058,NA,NA,NA,NA,NA,NA,NA,NA
chr5,87963190,87963190,A,T,P388862_F,LINC00461,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00461,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137507952,137507952,G,A,P388862_F,BRD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10881905,10881905,C,T,P388862_F,GCM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51934330,51934330,G,A,P388862_F,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,150342452,150342452,A,T,P388862_F,RAET1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAET1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44076501,44076501,G,C,P388862_F,RASA4CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RASA4CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63028334,63028334,C,T,P388862_F,LOC100287834,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100287834;MIR4283-1,dist=168915;dist=53134,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151971062,151971062,T,G,P388862_F,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48585872,48585872,G,T,P388862_F,SPIDR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,57302793,57302793,G,A,P388862_F,SDR16C6P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SDR16C6P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41954629,41954629,G,A,P388862_F,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,45362606,45362606,G,T,P388862_F,LOC102723709,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC102723709;LOC107984035,dist=357316;dist=79279,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66514076,66514076,C,A,P388862_F,LERFS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LERFS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86243687,86243687,C,T,P388862_F,IDNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127300357,127300357,C,T,P388862_F,NR6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135942694,135942694,G,A,P388862_F,CEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140355898,140355898,C,T,P388862_F,PNPLA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33143476,33143476,G,A,P388862_F,CCDC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50081396,50081396,C,T,P388862_F,WDFY4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDFY4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71690771,71690771,C,T,P388862_F,COL13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98901453,98901453,C,T,P388862_F,SLIT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99358680,99358680,G,A,P388862_F,HOGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,34533212,34533212,G,A,P388862_F,ELF5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ELF5,NM_198381:c.-96C>T;NM_001243081:c.-96C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1010964,1010964,G,A,P388862_F,WNK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3757521,3757521,C,T,P388862_F,CRACR2A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CRACR2A,NM_032680:c.*117G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9447029,9447029,T,C,P388862_F,LOC642846,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC642846,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50599617,50599617,T,G,P388862_F,LIMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57972218,57972218,G,A,P388862_F,KIF5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,95453615,95453615,C,T,P388862_F,NR2C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR2C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129180324,129180324,G,A,P388862_F,TMEM132C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM132C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,22096667,22096667,C,T,P388862_F,MICU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24893145,24893145,C,T,P388862_F,C1QTNF9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QTNF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25020983,25020983,T,C,P388862_F,PARP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22265565,22265565,G,A,P388862_F,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=126333;dist=582243,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24897936,24897936,C,A,P388862_F,CBLN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50623669,50623669,G,A,P388862_F,SOS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77797373,77797373,C,A,P388862_F,GSTZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106331845,106331845,C,T,P388862_F,MIR4539,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4539;FAM30A,dist=5261;dist=51993,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106518472,106518472,G,A,P388862_F,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=80114;dist=225797,NA,NA,NA,NA,NA,NA,NA,NA
chr15,100348566,100348566,T,G,P388862_F,LOC400464,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC400464,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101527537,101527537,T,C,P388862_F,LRRK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102295647,102295647,C,A,P388862_F,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=8574;dist=50276,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2819941,2819941,C,T,P388862_F,SRRM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28883775,28883775,G,A,P388862_F,SH2B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,90050861,90050861,G,C,P388862_F,AFG3L1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,AFG3L1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3769345,3769345,G,C,P388862_F,CAMKK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,11787104,11787104,G,A,P388862_F,DNAH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,21730916,21730916,G,T,P388862_F,UBBP4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,UBBP4,NA,NA,NA,.,.,D,T,.,.
chr17,43908012,43908012,C,T,P388862_F,CRHR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRHR1;LINC02210-CRHR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57443524,57443524,T,C,P388862_F,YPEL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YPEL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,64737632,64737632,G,A,P388862_F,PRKCA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79982779,79982779,G,A,P388862_F,LRRC45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,52262079,52262079,T,G,P388862_F,DYNAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3982160,3982160,G,A,P388862_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6678108,6678108,G,A,P388862_F,C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7565487,7565487,C,T,P388862_F,TEX45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8137888,8137888,C,T,P388862_F,FBN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12937205,12937205,G,A,P388862_F,RTBDN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RTBDN,NM_001270440:c.*216C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39108180,39108180,G,A,P388862_F,MAP4K1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41130002,41130002,G,A,P388862_F,LTBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45138676,45138676,G,T,P388862_F,IGSF23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45138678,45138678,C,G,P388862_F,IGSF23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53952742,53952742,G,C,P388862_F,ZNF761,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF761;ZNF765-ZNF761,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54573242,54573242,C,T,P388862_F,TARM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TARM1,NM_001330650:c.*15G>A;NM_001135686:c.*15G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55272019,55272019,G,A,P388862_F,KIR2DL3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,KIR2DL3;LOC101928804,dist=7515;dist=8855,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29623317,29623317,G,A,P388862_F,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34166779,34166779,C,T,P388862_F,FER1L4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FER1L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43743520,43743520,G,A,P388862_F,WFDC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WFDC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,51589929,51589929,C,T,P388862_F,TSHZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSHZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,55929685,55929685,G,A,P388862_F,RAE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61287794,61287794,C,T,P388862_F,SLCO4A1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLCO4A1,NM_016354:c.-13C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62474952,62474952,C,T,P388862_F,ZBTB46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZBTB46;ABHD16B,dist=12335;dist=17614,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62474957,62474957,C,T,P388862_F,ZBTB46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZBTB46;ABHD16B,dist=12340;dist=17609,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11058377,11058377,C,T,P388862_F,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19903266,19903266,C,T,P388862_F,TXNRD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNRD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42206083,42206083,C,T,P388862_F,CCDC134,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC134,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19689005,19689005,T,C,P388862_F,SH3KBP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SH3KBP1,NM_001353897:c.-14A>G;NM_001184960:c.-14A>G,NA,NA,NA,NA,NA,NA,NA,NA
chrX,64771831,64771831,G,A,P388862_F,FRMD8P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRMD8P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11206963,11206963,G,C,P388862_S,MTOR-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MTOR-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120471866,120471866,G,T,P388862_S,NOTCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOTCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209666,145209666,C,T,P388862_S,NOTCH2NLR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NOTCH2NLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205495335,205495335,C,T,P388862_S,CDK18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31751146,31751146,C,T,P388862_S,SRD5A2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SRD5A2,NM_000348:c.*120G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71191493,71191493,C,T,P388862_S,ATP6V1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96906545,96906545,G,T,P388862_S,STARD7-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,STARD7-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9719072,9719072,G,A,P388862_S,MTMR14,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MTMR14,NM_022485:exon8:c.822+1G>A;NM_001077526:exon8:c.822+1G>A;NM_001077525:exon8:c.822+1G>A,NA,NA,.,.,D,.,.,.
chr3,42190858,42190858,A,G,P388862_S,TRAK1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TRAK1,NM_001349248:c.-170A>G;NM_001349249:c.-170A>G;NM_001265609:c.-170A>G;NM_001265610:c.-170A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52380397,52380397,C,A,P388862_S,DNAH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,116163668,116163668,C,A,P388862_S,LSAMP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSAMP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119014000,119014000,A,T,P388862_S,ARHGAP31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132297612,132297612,T,C,P388862_S,NPHP3-ACAD11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NPHP3-ACAD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142738888,142738888,A,G,P388862_S,U2SURP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,U2SURP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,154886254,154886254,C,T,P388862_S,MME,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MME,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,72313576,72313576,C,T,P388862_S,SLC4A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,145629482,145629482,C,T,P388862_S,HHIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,87963190,87963190,A,T,P388862_S,LINC00461,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00461,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147902625,147902625,T,A,P388862_S,HTR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,50810737,50810737,T,C,P388862_S,TFAP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFAP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51934330,51934330,G,A,P388862_S,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55623942,55623942,C,A,P388862_S,BMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,891351,891351,C,T,P388862_S,SUN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44076501,44076501,G,C,P388862_S,RASA4CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RASA4CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152498667,152498667,C,T,P388862_S,ACTR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,158457490,158457490,A,G,P388862_S,NCAPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48585872,48585872,G,T,P388862_S,SPIDR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,57302793,57302793,G,A,P388862_S,SDR16C6P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SDR16C6P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74332475,74332475,G,A,P388862_S,STAU2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_splicing,STAU2-AS1,NR_038406:exon1:c.166+1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66499716,66499716,A,G,P388862_S,PTGER4P2-CDK2AP2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PTGER4P2-CDK2AP2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66514076,66514076,C,A,P388862_S,LERFS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LERFS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,119033446,119033446,A,G,P388862_S,PAPPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127300357,127300357,C,T,P388862_S,NR6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130913780,130913780,T,G,P388862_S,LCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140477217,140477217,C,G,P388862_S,ZMYND19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYND19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140852231,140852231,C,T,P388862_S,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33143476,33143476,G,A,P388862_S,CCDC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71690771,71690771,C,T,P388862_S,COL13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7712483,7712483,T,C,P388862_S,OVCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OVCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18759368,18759368,A,C,P388862_S,PTPN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,34533212,34533212,G,A,P388862_S,ELF5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ELF5,NM_198381:c.-96C>T;NM_001243081:c.-96C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94924504,94924504,T,C,P388862_S,SESN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SESN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118922673,118922673,C,A,P388862_S,HYOU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYOU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18552862,18552862,C,T,P388862_S,PIK3C2G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3C2G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57581012,57581012,G,A,P388862_S,LRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129180324,129180324,G,A,P388862_S,TMEM132C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM132C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,22096667,22096667,C,T,P388862_S,MICU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22265565,22265565,G,A,P388862_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=126333;dist=582243,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77797373,77797373,C,A,P388862_S,GSTZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106331845,106331845,C,T,P388862_S,MIR4539,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4539;FAM30A,dist=5261;dist=51993,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106518472,106518472,G,A,P388862_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=80114;dist=225797,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101527537,101527537,T,C,P388862_S,LRRK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102295647,102295647,C,A,P388862_S,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=8574;dist=50276,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102516411,102516411,C,G,P388862_S,WASH3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21396929,21396929,A,T,P388862_S,SNX29P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNX29P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28883775,28883775,G,A,P388862_S,SH2B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,90050861,90050861,G,C,P388862_S,AFG3L1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,AFG3L1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3769345,3769345,G,C,P388862_S,CAMKK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,11787104,11787104,G,A,P388862_S,DNAH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43908012,43908012,C,T,P388862_S,CRHR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRHR1;LINC02210-CRHR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57443524,57443524,T,C,P388862_S,YPEL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YPEL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62122097,62122097,G,A,P388862_S,ERN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71193691,71193691,A,G,P388862_S,COG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77100257,77100257,G,A,P388862_S,RBFOX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,52262079,52262079,T,G,P388862_S,DYNAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3982160,3982160,G,A,P388862_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6678108,6678108,G,A,P388862_S,C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39108180,39108180,G,A,P388862_S,MAP4K1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41130002,41130002,G,A,P388862_S,LTBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42561182,42561182,C,A,P388862_S,GRIK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50064015,50064015,G,A,P388862_S,NOSIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOSIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55272019,55272019,G,A,P388862_S,KIR2DL3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,KIR2DL3;LOC101928804,dist=7515;dist=8855,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55657029,55657029,G,A,P388862_S,TNNT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34191301,34191301,G,A,P388862_S,FER1L4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FER1L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62474952,62474952,C,T,P388862_S,ZBTB46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZBTB46;ABHD16B,dist=12335;dist=17614,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62474957,62474957,C,T,P388862_S,ZBTB46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZBTB46;ABHD16B,dist=12340;dist=17609,NA,NA,NA,NA,NA,NA,NA,NA
chrX,9907570,9907570,C,G,P388862_S,SHROOM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHROOM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,64771831,64771831,G,A,P388862_S,FRMD8P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRMD8P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,8418217,8418217,C,T,P395201_F,RERE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RERE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12780766,12780766,G,A,P395201_F,AADACL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AADACL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12942353,12942353,G,C,P395201_F,PRAMEF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRAMEF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47325354,47325354,G,A,P395201_F,CYP4Z2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CYP4Z2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,149764206,149764206,T,C,P395201_F,HIST2H3DP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HIST2H3DP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151234930,151234930,A,G,P395201_F,PSMD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153317898,153317898,G,A,P395201_F,PGLYRP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGLYRP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158585203,158585203,C,T,P395201_F,SPTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,180217655,180217655,G,A,P395201_F,LHX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LHX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202509480,202509480,G,A,P395201_F,PPP1R12B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44040239,44040239,C,A,P395201_F,ABCG5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ABCG5,NM_022436:c.*16G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107042610,107042610,G,T,P395201_F,RGPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118850569,118850569,A,G,P395201_F,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14523389,14523389,C,T,P395201_F,SLC6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126751473,126751473,G,A,P395201_F,PLXNA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4239697,4239697,C,A,P395201_F,TMEM128,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71064015,71064015,G,A,P395201_F,ODAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ODAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76506930,76506930,C,T,P395201_F,CDKL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,128938657,128938657,G,A,P395201_F,ABHD18,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ABHD18,NM_001319306:exon7:c.228+1G>A;NM_001366038:exon9:c.465+1G>A;NM_001319305:exon8:c.363+1G>A;NM_001319307:exon8:c.102+1G>A;NM_001358454:exon9:c.654+1G>A;NM_001366043:exon8:c.609+1G>A;NM_001366037:exon8:c.102+1G>A;NM_001366039:exon8:c.609+1G>A;NM_001366040:exon9:c.102+1G>A;NM_001358451:exon8:c.609+1G>A;NM_001366044:exon8:c.228+1G>A;NM_001366048:exon8:c.363+1G>A;NM_001366047:exon7:c.228+1G>A;NM_001366046:exon8:c.102+1G>A;NM_001366045:exon9:c.228+1G>A;NM_001366042:exon10:c.102+1G>A;NM_001366041:exon7:c.228+1G>A;NM_001039717:exon8:c.609+1G>A,NA,NA,.,.,D,.,.,.
chr5,14387460,14387460,A,G,P395201_F,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137520181,137520181,G,T,P395201_F,KIF20A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF20A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156277565,156277565,C,T,P395201_F,PPP1R2B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PPP1R2B,NM_206858:c.-9C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177674386,177674386,C,A,P395201_F,COL23A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL23A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179390314,179390314,A,G,P395201_F,RNF130,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF130,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,31324245,31324245,A,C,P395201_F,HLA-B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLA-B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47440364,47440364,G,A,P395201_F,TNS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,55225624,55225624,G,C,P395201_F,EGFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EGFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99197981,99197981,C,T,P395201_F,TMEM225B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM225B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,121691376,121691376,C,T,P395201_F,PTPRZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150489073,150489073,G,A,P395201_F,TMEM176B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM176B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82373788,82373788,G,A,P395201_F,FABP9,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,FABP9,dist=30,NA,NA,NA,NA,NA,NA,NA,NA
chr9,89560513,89560513,C,T,P395201_F,GAS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GAS1,NM_002048:c.*144G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114132654,114132654,C,T,P395201_F,ECPAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECPAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104857231,104857231,G,A,P395201_F,NT5C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59558199,59558199,T,C,P395201_F,STX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64030336,64030336,C,T,P395201_F,PLCB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74430007,74430007,C,A,P395201_F,CHRDL2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CHRDL2,NM_001304390:c.-108G>T;NM_001304415:c.-108G>T;NM_001304391:c.-108G>T;NM_001304416:c.-8030G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77614844,77614844,T,G,P395201_F,INTS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,93803736,93803736,G,A,P395201_F,HEPHL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113688321,113688321,T,C,P395201_F,USP28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,76855235,76855235,G,A,P395201_F,OSBPL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBPL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80900553,80900553,G,A,P395201_F,PTPRQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111733366,111733366,G,A,P395201_F,CUX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,126929475,126929475,T,A,P395201_F,LINC02347,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02347,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53603270,53603270,C,T,P395201_F,OLFM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OLFM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35344462,35344462,C,T,P395201_F,LOC112268124,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC112268124,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,70037639,70037639,G,A,P395201_F,CCDC177,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCDC177,NM_001271507:c.*577C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77715042,77715042,G,A,P395201_F,TMEM63C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM63C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,37168618,37168618,T,G,P395201_F,LOC145845,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC145845,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45123962,45123962,G,A,P395201_F,SORD2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SORD2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74890433,74890433,G,A,P395201_F,ARID3B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARID3B,NM_001307939:c.*2318G>A;NM_006465:c.*2318G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102297875,102297875,A,G,P395201_F,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=10802;dist=48048,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2647315,2647315,G,A,P395201_F,PDPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31371600,31371600,C,T,P395201_F,ITGAX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31766552,31766552,A,G,P395201_F,ZNF720,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF720,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32926930,32926930,G,A,P395201_F,SLC6A10P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC6A10P;TP53TG3,dist=30467;dist=278653,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81743479,81743479,G,A,P395201_F,CMIP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CMIP,NM_198390:c.*75G>A;NM_030629:c.*75G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,11697020,11697020,A,G,P395201_F,DNAH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20768912,20768912,C,G,P395201_F,CCDC144NL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC144NL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58289507,58289507,T,C,P395201_F,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,9517393,9517393,G,A,P395201_F,RALBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,45396696,45396696,C,T,P395201_F,SMAD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,53068254,53068254,T,C,P395201_F,TCF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1298793,1298793,G,C,P395201_F,EFNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4719985,4719985,C,T,P395201_F,DPP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5776389,5776389,G,A,P395201_F,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17104474,17104474,C,T,P395201_F,CPAMD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPAMD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36015599,36015599,C,T,P395201_F,SBSN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBSN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43514253,43514253,G,A,P395201_F,PSG11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSG11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51262088,51262088,G,A,P395201_F,CLEC11A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CLEC11A;GPR32,dist=33123;dist=11633,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55281165,55281165,C,A,P395201_F,LOC101928804,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101928804,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55281234,55281234,C,A,P395201_F,LOC101928804,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101928804,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29628185,29628185,A,G,P395201_F,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11039296,11039296,G,T,P395201_F,BAGE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BAGE2;BAGE3;BAGE4;BAGE5,NM_182482:c.*370C>A;NM_182481:c.*370C>A;NM_181704:c.*585C>A;NM_182484:c.*585C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32445844,32445844,G,A,P395201_F,SLC5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37678643,37678643,G,A,P395201_F,CYTH4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,2826659,2826659,C,T,P395201_F,ARSD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARSD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,65476287,65476287,G,A,P395201_F,HEPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,147800810,147800810,G,T,P395201_F,AFF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153040151,153040151,C,T,P395201_F,PLXNB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1654058,1654058,C,T,P395201_S,CDK11B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CDK11B,NM_033489:c.-23G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158585203,158585203,C,T,P395201_S,SPTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176827037,176827037,T,G,P395201_S,ASTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3357102,3357102,G,A,P395201_S,EIPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44040239,44040239,C,A,P395201_S,ABCG5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ABCG5,NM_022436:c.*16G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89339848,89339848,C,G,P395201_S,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;NONE,dist=227880;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr2,228890048,228890048,C,T,P395201_S,SPHKAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPHKAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,18456856,18456856,G,A,P395201_S,SATB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SATB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,69245350,69245350,C,T,P395201_S,FRMD4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126751473,126751473,G,A,P395201_S,PLXNA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195378438,195378438,G,C,P395201_S,LOC105374297,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105374297,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,128938657,128938657,G,A,P395201_S,ABHD18,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ABHD18,NM_001319306:exon7:c.228+1G>A;NM_001366038:exon9:c.465+1G>A;NM_001319305:exon8:c.363+1G>A;NM_001319307:exon8:c.102+1G>A;NM_001358454:exon9:c.654+1G>A;NM_001366043:exon8:c.609+1G>A;NM_001366037:exon8:c.102+1G>A;NM_001366039:exon8:c.609+1G>A;NM_001366040:exon9:c.102+1G>A;NM_001358451:exon8:c.609+1G>A;NM_001366044:exon8:c.228+1G>A;NM_001366048:exon8:c.363+1G>A;NM_001366047:exon7:c.228+1G>A;NM_001366046:exon8:c.102+1G>A;NM_001366045:exon9:c.228+1G>A;NM_001366042:exon10:c.102+1G>A;NM_001366041:exon7:c.228+1G>A;NM_001039717:exon8:c.609+1G>A,NA,NA,.,.,D,.,.,.
chr5,14387460,14387460,A,G,P395201_S,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137520181,137520181,G,T,P395201_S,KIF20A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF20A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150400329,150400329,G,A,P395201_S,GPX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156277565,156277565,C,T,P395201_S,PPP1R2B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PPP1R2B,NM_206858:c.-9C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177674386,177674386,C,A,P395201_S,COL23A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL23A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179390314,179390314,A,G,P395201_S,RNF130,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF130,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,110085074,110085074,C,T,P395201_S,FIG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FIG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47440364,47440364,G,A,P395201_S,TNS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,55225624,55225624,G,C,P395201_S,EGFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EGFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99197981,99197981,C,T,P395201_S,TMEM225B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM225B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99751664,99751664,T,G,P395201_S,LAMTOR4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LAMTOR4,NM_001008395:c.*77T>G;NM_001318236:c.*145T>G;NM_001318237:c.*77T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128414492,128414492,C,T,P395201_S,OPN1SW,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPN1SW,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143087617,143087617,G,A,P395201_S,ZYX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZYX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82373788,82373788,G,A,P395201_S,FABP9,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,FABP9,dist=30,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114132654,114132654,C,T,P395201_S,ECPAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECPAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74430007,74430007,C,A,P395201_S,CHRDL2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CHRDL2,NM_001304390:c.-108G>T;NM_001304415:c.-108G>T;NM_001304391:c.-108G>T;NM_001304416:c.-8030G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,93803736,93803736,G,A,P395201_S,HEPHL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113688321,113688321,T,C,P395201_S,USP28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71155236,71155236,C,T,P395201_S,PTPRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,76855235,76855235,G,A,P395201_S,OSBPL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBPL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,126929475,126929475,T,A,P395201_S,LINC02347,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02347,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114762302,114762302,C,T,P395201_S,RASA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77715042,77715042,G,A,P395201_S,TMEM63C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM63C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25315675,25315675,G,A,P395201_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,37168618,37168618,T,G,P395201_S,LOC145845,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC145845,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42749150,42749150,A,C,P395201_S,ZNF106,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF106,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62174045,62174045,G,A,P395201_S,VPS13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74890433,74890433,G,A,P395201_S,ARID3B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARID3B,NM_001307939:c.*2318G>A;NM_006465:c.*2318G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,80181705,80181705,G,A,P395201_S,MTHFS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTHFS;ST20-MTHFS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2647315,2647315,G,A,P395201_S,PDPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31371600,31371600,C,T,P395201_S,ITGAX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31766552,31766552,A,G,P395201_S,ZNF720,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF720,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,47730482,47730482,G,A,P395201_S,PHKB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57596088,57596088,A,G,P395201_S,ADGRG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36365196,36365196,A,G,P395201_S,LOC440434,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC440434,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36365197,36365197,A,T,P395201_S,LOC440434,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC440434,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39643425,39643425,G,A,P395201_S,KRT36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72206007,72206007,C,T,P395201_S,RPL38,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPL38,NM_001035258:c.*39C>T;NM_000999:c.*39C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,2588998,2588998,A,G,P395201_S,NDC80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDC80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6959309,6959309,C,T,P395201_S,LAMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,9517393,9517393,G,A,P395201_S,RALBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,53068254,53068254,T,C,P395201_S,TCF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4719985,4719985,C,T,P395201_S,DPP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9727720,9727720,C,T,P395201_S,ZNF561,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZNF561,NM_152289:exon4:c.241+1G>A;NM_001330365:exon3:c.34+1G>A,NA,NA,.,.,D,.,.,.
chr19,15338917,15338917,G,A,P395201_S,EPHX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15648909,15648909,G,A,P395201_S,CYP4F22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17104474,17104474,C,T,P395201_S,CPAMD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPAMD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36015599,36015599,C,T,P395201_S,SBSN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBSN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3835234,3835234,C,A,P395201_S,MAVS,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MAVS,NM_001206491:c.-6876C>A;NM_020746:c.-38C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29628185,29628185,A,G,P395201_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44980680,44980680,G,A,P395201_S,SLC35C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11039296,11039296,G,T,P395201_S,BAGE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BAGE2;BAGE3;BAGE4;BAGE5,NM_182482:c.*370C>A;NM_182481:c.*370C>A;NM_181704:c.*585C>A;NM_182484:c.*585C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17621944,17621944,C,T,P395201_S,HDHD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDHD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23959752,23959752,G,A,P395201_S,DRICH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRICH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32445844,32445844,G,A,P395201_S,SLC5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,13397443,13397443,G,A,P395201_S,LINC01203,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01203;EGFL6,dist=37499;dist=190277,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3335361,3335361,C,T,P398678_F,PRDM16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16975370,16975370,C,T,P398678_F,MST1P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MST1P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17085087,17085087,G,A,P398678_F,LOC102724562,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724562,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,111739664,111739664,G,C,P398678_F,DENND2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144823744,144823744,A,T,P398678_F,NBPF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF19;NBPF20;NBPF8;NBPF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157766795,157766795,T,A,P398678_F,FCRL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236557922,236557922,C,T,P398678_F,EDARADD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDARADD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,29247243,29247243,A,T,P398678_F,TOGARAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOGARAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,56570171,56570171,C,T,P398678_F,CCDC85A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC85A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101188388,101188388,G,A,P398678_F,PDCL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDCL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101640267,101640267,G,A,P398678_F,TBC1D8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851294,118851294,G,A,P398678_F,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,11925226,11925226,G,A,P398678_F,TAMM41,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TAMM41;SYN2,dist=36867;dist=120608,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37034637,37034637,G,A,P398678_F,EPM2AIP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,EPM2AIP1;MLH1,dist=204,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49899660,49899660,C,A,P398678_F,CAMKV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,93714835,93714835,C,G,P398678_F,ARL13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,116163668,116163668,C,A,P398678_F,LSAMP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSAMP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141901991,141901991,T,A,P398678_F,GK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185232182,185232182,T,C,P398678_F,LIPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48112529,48112529,T,C,P398678_F,TXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79373519,79373519,C,A,P398678_F,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83323523,83323523,G,A,P398678_F,HNRNPD,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HNRNPD;HNRNPDL,dist=28374;dist=20194,NA,NA,NA,NA,NA,NA,NA,NA
chr4,94547359,94547359,A,T,P398678_F,GRID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,189061664,189061664,G,T,P398678_F,TRIML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904286,190904286,T,C,P398678_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=19940;dist=41220,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904383,190904383,G,A,P398678_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20037;dist=41123,NA,NA,NA,NA,NA,NA,NA,NA
chr5,5146733,5146733,G,C,P398678_F,ADAMTS16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,9629207,9629207,T,A,P398678_F,TAS2R1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TAS2R1,NM_019599:c.*38A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,41159391,41159391,G,T,P398678_F,C6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,69325555,69325555,A,C,P398678_F,SERF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERF1A;SERF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,78350193,78350193,G,A,P398678_F,DMGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112851088,112851088,T,A,P398678_F,YTHDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YTHDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112851121,112851121,C,T,P398678_F,YTHDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YTHDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,71009995,71009995,G,A,P398678_F,COL9A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105614591,105614591,T,C,P398678_F,BVES-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BVES-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109768143,109768143,A,G,P398678_F,MICAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,151662882,151662882,C,T,P398678_F,AKAP12,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,AKAP12,NM_001370346:c.-36C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160829720,160829720,A,G,P398678_F,SLC22A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,55629799,55629799,C,T,P398678_F,VOPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VOPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102309118,102309118,A,C,P398678_F,POLR2J2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2J2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137075890,137075890,T,A,P398678_F,DGKI,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DGKI,NM_001321710:c.*76A>T;NM_001321708:c.*76A>T;NM_001321709:c.*76A>T;NM_004717:c.*76A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139661632,139661632,T,C,P398678_F,TBXAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBXAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,183192,183192,T,C,P398678_F,ZNF596,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF596,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,7585528,7585528,T,C,P398678_F,FAM90A7P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM90A7P;FAM90A10P,dist=153608;dist=41578,NA,NA,NA,NA,NA,NA,NA,NA
chr8,7885417,7885417,G,A,P398678_F,FAM66E,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM66E;MIR548I3,dist=19140;dist=61046,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95653686,95653686,T,C,P398678_F,ESRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35078460,35078460,C,T,P398678_F,FANCG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415302,68415302,A,G,P398678_F,MIR4477B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4477B;LINC00537;MIR4477A,dist=6;dist=6,NA,NA,NA,NA,NA,NA,NA,NA
chr9,97329962,97329962,T,C,P398678_F,PCAT7,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PCAT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101530646,101530646,C,G,P398678_F,ANKS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135946121,135946121,T,C,P398678_F,CEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138441625,138441625,G,C,P398678_F,OBP2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBP2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140441871,140441871,C,T,P398678_F,PNPLA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,89693009,89693009,G,A,P398678_F,PTEN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PTEN,NM_000314:exon5:c.492+1G>A;NM_001304717:exon6:c.1011+1G>A;NM_001304718:exon4:UTR5,NA,NA,.,.,D,.,.,.
chr11,2162025,2162025,T,A,P398678_F,IGF2-AS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,IGF2-AS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5989870,5989870,T,A,P398678_F,OR56A5,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OR56A5,dist=146,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49854989,49854989,C,T,P398678_F,LOC440040,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC440040;OR4C13,dist=23020;dist=118954,NA,NA,NA,NA,NA,NA,NA,NA
chr11,55747201,55747201,C,T,P398678_F,OR7E5P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR7E5P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101316137,101316137,C,T,P398678_F,ANO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104359779,104359779,C,T,P398678_F,TDG,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TDG,NM_001363612:c.-14913C>T;NM_003211:c.-37C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113731272,113731272,G,A,P398678_F,TPCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111340039,111340039,G,A,P398678_F,CARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,57364529,57364529,A,G,P398678_F,OTX2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,OTX2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101488488,101488488,C,T,P398678_F,MIR379,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR379,dist=19,NA,NA,NA,NA,NA,NA,NA,NA
chr15,21009475,21009475,T,C,P398678_F,NBEAP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NBEAP1;MIR3118-2,dist=47995;dist=28649,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15662055,15662055,G,A,P398678_F,BMERB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMERB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20602182,20602182,G,A,P398678_F,ACSM2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ACSM2B;ACSM1,dist=14493;dist=32375,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68334981,68334981,C,A,P398678_F,SLC7A6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC7A6;SLC7A6OS,NM_003983:c.*3750C>A;NM_001076785:c.*3750C>A;NM_032178:c.*197G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75264171,75264171,A,G,P398678_F,BCAR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6367307,6367307,C,A,P398678_F,PITPNM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18141670,18141670,G,C,P398678_F,LLGL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LLGL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20243275,20243275,C,G,P398678_F,CCDC144CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CCDC144CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34257467,34257467,C,T,P398678_F,RDM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RDM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43342242,43342242,C,G,P398678_F,MAP3K14-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MAP3K14-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45660339,45660339,T,A,P398678_F,NPEPPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPEPPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3067246,3067246,C,T,P398678_F,MYOM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYOM1,NM_019856:c.*14G>A;NM_003803:c.*14G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr18,67068599,67068599,G,A,P398678_F,DOK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45854681,45854681,G,C,P398678_F,ERCC2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ERCC2;KLC3,NM_000400:c.*206C>G;NM_177417:c.*66G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51914246,51914246,A,G,P398678_F,SIGLEC10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SIGLEC10,NM_001171158:c.*107T>C;NM_001171159:c.*107T>C;NM_001322105:c.*107T>C;NM_001171156:c.*107T>C;NM_001171161:c.*107T>C;NM_033130:c.*107T>C;NM_001171157:c.*107T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51914248,51914248,G,A,P398678_F,SIGLEC10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SIGLEC10,NM_001171158:c.*105C>T;NM_001171159:c.*105C>T;NM_001322105:c.*105C>T;NM_001171156:c.*105C>T;NM_001171161:c.*105C>T;NM_033130:c.*105C>T;NM_001171157:c.*105C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30028665,30028665,G,A,P398678_F,DEFB123,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEFB123,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46193735,46193735,T,C,P398678_F,UBE2G2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2G2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30642620,30642620,G,A,P398678_F,LOC91370,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC91370,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35718050,35718050,G,C,P398678_F,TOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42296819,42296819,C,T,P398678_F,SREBF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SREBF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,18660006,18660006,T,G,P398678_F,RS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RS1,NM_000330:c.*118A>C,NA,NA,NA,NA,NA,NA,NA,NA
chrX,96048664,96048664,A,T,P398678_F,DIAPH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIAPH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12854027,12854027,T,C,P398678_S,PRAMEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRAMEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,86487914,86487914,C,A,P398678_S,COL24A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL24A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,111739664,111739664,G,C,P398678_S,DENND2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120478000,120478000,T,G,P398678_S,NOTCH2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NOTCH2,NM_001200001:c.*42A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209116,145209116,T,C,P398678_S,NOTCH2NLA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NOTCH2NLA,NM_001364006:c.-318T>C;NM_203458:c.-39741T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145297544,145297544,T,C,P398678_S,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154192453,154192453,G,A,P398678_S,C1orf43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159683992,159683992,C,A,P398678_S,CRP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161736110,161736110,A,T,P398678_S,ATF6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATF6,NM_007348:c.-41A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,209849002,209849002,T,C,P398678_S,HSD11B1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HSD11B1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10140651,10140651,A,G,P398678_S,GRHL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,15691791,15691791,G,T,P398678_S,NBAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,29247243,29247243,A,T,P398678_S,TOGARAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOGARAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,56570171,56570171,C,T,P398678_S,CCDC85A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC85A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,68389807,68389807,A,T,P398678_S,PNO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851294,118851294,G,A,P398678_S,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165353712,165353712,C,T,P398678_S,GRB14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRB14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201254049,201254049,G,C,P398678_S,SPATS2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATS2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12872829,12872829,A,G,P398678_S,CAND2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAND2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12956531,12956531,G,A,P398678_S,IQSEC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQSEC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,18308436,18308436,A,G,P398678_S,LOC339862,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC339862,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38598669,38598669,A,G,P398678_S,SCN5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52728176,52728176,T,A,P398678_S,GNL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185232182,185232182,T,C,P398678_S,LIPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47034626,47034626,C,G,P398678_S,GABRB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,94547359,94547359,A,T,P398678_S,GRID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904286,190904286,T,C,P398678_S,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=19940;dist=41220,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904383,190904383,G,A,P398678_S,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20037;dist=41123,NA,NA,NA,NA,NA,NA,NA,NA
chr5,9629207,9629207,T,A,P398678_S,TAS2R1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TAS2R1,NM_019599:c.*38A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70357186,70357186,C,A,P398678_S,GTF2H2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2H2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70357189,70357189,C,A,P398678_S,GTF2H2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2H2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70928083,70928083,C,T,P398678_S,MCCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176917078,176917078,T,C,P398678_S,PDLIM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDLIM7,NA,NA,NA,T,.,P,T,N,T
chr6,71009995,71009995,G,A,P398678_S,COL9A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84303502,84303502,G,A,P398678_S,SNAP91,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNAP91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105614591,105614591,T,C,P398678_S,BVES-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BVES-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109768143,109768143,A,G,P398678_S,MICAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160829720,160829720,A,G,P398678_S,SLC22A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168060317,168060317,C,T,P398678_S,LOC105378127,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC105378127;LINC02538,dist=175304;dist=7205,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30805942,30805942,C,A,P398678_S,INMT-MINDY4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,INMT-MINDY4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48018455,48018455,T,A,P398678_S,HUS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HUS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73609302,73609302,C,G,P398678_S,EIF4H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73922613,73922613,T,C,P398678_S,GTF2IRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2IRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122774651,122774651,G,A,P398678_S,SLC13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,2027820,2027820,G,A,P398678_S,MYOM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,7585528,7585528,T,C,P398678_S,FAM90A7P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM90A7P;FAM90A10P,dist=153608;dist=41578,NA,NA,NA,NA,NA,NA,NA,NA
chr8,132947786,132947786,C,T,P398678_S,EFR3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFR3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142481115,142481115,A,T,P398678_S,MROH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,20781979,20781979,C,A,P398678_S,FOCAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOCAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,77397519,77397519,T,C,P398678_S,TRPM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,93650240,93650240,C,G,P398678_S,SYK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123152099,123152099,C,G,P398678_S,CDK5RAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK5RAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,89693009,89693009,G,A,P398678_S,PTEN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PTEN,NM_000314:exon5:c.492+1G>A;NM_001304717:exon6:c.1011+1G>A;NM_001304718:exon4:UTR5,NA,NA,.,.,D,.,.,.
chr11,49222001,49222001,A,G,P398678_S,FOLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64594677,64594677,C,A,P398678_S,CDC42BPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70789000,70789000,G,A,P398678_S,SHANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,4714018,4714018,G,A,P398678_S,DYRK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYRK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27529426,27529426,A,T,P398678_S,ARNTL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71078816,71078816,C,G,P398678_S,PTPRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101316137,101316137,C,T,P398678_S,ANO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,106729286,106729286,T,C,P398678_S,TCP11L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCP11L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110246039,110246039,A,C,P398678_S,TRPV4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133281462,133281462,G,A,P398678_S,PXMP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PXMP2,NM_018663:c.*189G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111102183,111102183,A,G,P398678_S,COL4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113980464,113980464,A,G,P398678_S,GRTP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRTP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20002181,20002181,A,T,P398678_S,POTEM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105238604,105238604,C,T,P398678_S,AKT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34520393,34520393,G,A,P398678_S,EMC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41067214,41067214,G,A,P398678_S,DNAJC17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,51507782,51507782,T,G,P398678_S,MIR4713HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR4713HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,58904237,58904237,C,T,P398678_S,ADAM10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72855693,72855693,C,T,P398678_S,ARIH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,93339219,93339219,T,C,P398678_S,ASB9P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ASB9P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20602182,20602182,G,A,P398678_S,ACSM2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ACSM2B;ACSM1,dist=14493;dist=32375,NA,NA,NA,NA,NA,NA,NA,NA
chr16,83065965,83065965,T,A,P398678_S,CDH13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28887667,28887667,T,C,P398678_S,GOSR1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GOSR1;SMURF2P1-LRRC37BP1,dist=33057;dist=15816,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39106924,39106924,A,G,P398678_S,MAP4K1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57646218,57646218,C,T,P398678_S,ZIM3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZIM3,NM_052882:c.*68G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57646249,57646249,C,T,P398678_S,ZIM3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZIM3,NM_052882:c.*37G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10639385,10639385,A,G,P398678_S,JAG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33867248,33867248,A,T,P398678_S,EIF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34191301,34191301,G,A,P398678_S,FER1L4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FER1L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45811860,45811860,A,G,P398678_S,EYA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11058353,11058353,T,C,P398678_S,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18111499,18111499,G,C,P398678_S,ATP6V1E1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATP6V1E1,NM_001039366:c.-98C>G;NM_001696:c.-98C>G;NM_001039367:c.-98C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22330082,22330082,T,C,P398678_S,TOP3B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TOP3B,NM_001349848:c.-5328A>G;NM_001349851:c.-5328A>G;NM_001349847:c.-1A>G;NM_001349852:c.-5328A>G;NM_001349845:c.-1A>G;NM_003935:c.-1A>G;NM_001282113:c.-1A>G;NM_001282112:c.-1A>G;NM_001349850:c.-5328A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22972575,22972575,G,A,P398678_S,LL22NC03-63E9.3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LL22NC03-63E9.3;POM121L1P,dist=63571;dist=1453,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35718050,35718050,G,C,P398678_S,TOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38540970,38540970,G,T,P398678_S,PLA2G6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38543453,38543453,T,C,P398678_S,PLA2G6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,27481435,27481435,G,A,P398678_S,PPP4R3C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PPP4R3C,NM_207319:c.-22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69500583,69500583,A,G,P398678_S,ARR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69668463,69668463,A,G,P398678_S,DLG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG3,NA,NA,NA,T,N,P,T,N,T
chrX,120007653,120007653,T,G,P398678_S,CT47B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CT47B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7838351,7838351,G,A,P404679_F,VAMP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAMP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11300255,11300255,T,A,P404679_F,MTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16891553,16891553,C,T,P404679_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892592,16892592,C,T,P404679_F,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16918693,16918693,A,T,P404679_F,NBPF1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NBPF1,NM_017940:c.-177T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17593352,17593352,G,C,P404679_F,PADI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PADI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55069364,55069364,C,T,P404679_F,ACOT11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOT11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,162381388,162381388,C,T,P404679_F,SH2D1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2D1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,248285985,248285985,T,A,P404679_F,OR2M1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR2M1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,248756104,248756104,G,T,P404679_F,OR2T10,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR2T10,dist=27,NA,NA,NA,NA,NA,NA,NA,NA
chr2,138414286,138414286,T,A,P404679_F,THSD7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THSD7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219903301,219903301,C,T,P404679_F,CFAP65,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CFAP65,NM_194302:exon4:c.154-1G>A;NM_001278295:exon4:c.121-1G>A;NM_001278296:exon3:UTR5;NM_152389:exon3:UTR5,NA,NA,.,.,N,.,.,.
chr2,220286332,220286332,T,C,P404679_F,DES,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DES,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231406845,231406845,C,T,P404679_F,SP100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,3144358,3144358,C,T,P404679_F,IL5RA,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,IL5RA,NM_000564:exon5:c.228+1G>A;NM_175726:exon4:c.228+1G>A;NM_001243099:exon4:c.228+1G>A;NM_175728:exon4:c.228+1G>A;NM_175725:exon5:c.228+1G>A;NM_175727:exon4:c.228+1G>A;NM_175724:exon5:c.228+1G>A,NA,NA,.,.,D,.,.,.
chr3,52383454,52383454,C,T,P404679_F,DNAH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58154166,58154166,G,C,P404679_F,FLNB,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FLNB,NM_001457:exon44:c.7199-1G>C;NM_001164319:exon43:c.7127-1G>C;NM_001164318:exon44:c.7166-1G>C;NM_001164317:exon45:c.7292-1G>C,NA,NA,.,.,D,.,.,.
chr3,122632042,122632042,G,C,P404679_F,SEMA5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,143692621,143692621,G,C,P404679_F,DIPK2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIPK2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169427458,169427458,G,A,P404679_F,MECOM,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MECOM;TERC,dist=45958;dist=54940,NA,NA,NA,NA,NA,NA,NA,NA
chr4,60225,60225,A,C,P404679_F,ZNF595,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF595;ZNF718,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,91736862,91736862,G,A,P404679_F,CCSER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCSER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,186263299,186263299,A,G,P404679_F,SNX25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14389302,14389302,A,G,P404679_F,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137217582,137217582,T,A,P404679_F,MYOT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43469816,43469816,T,A,P404679_F,TJAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TJAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,86253088,86253088,C,T,P404679_F,SNX14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160132221,160132221,C,T,P404679_F,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1627716,1627716,C,T,P404679_F,PSMG3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PSMG3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,11630368,11630368,C,T,P404679_F,THSD7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THSD7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48279024,48279024,T,C,P404679_F,ABCA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76130744,76130744,C,T,P404679_F,DTX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102116406,102116406,A,G,P404679_F,POLR2J,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2J,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102313423,102313423,A,T,P404679_F,POLR2J2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,POLR2J2;RASA4DP,dist=1241;dist=5732,NA,NA,.,.,.,.,.,T
chr7,131172535,131172535,G,A,P404679_F,MKLN1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MKLN1,NM_001145354:c.*48G>A;NM_013255:c.*48G>A;NM_001321316:c.*48G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143043501,143043501,C,T,P404679_F,CLCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157234725,157234725,G,A,P404679_F,DNAJB6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,DNAJB6;LOC101927914,dist=24592;dist=24200,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110437496,110437496,G,C,P404679_F,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133187900,133187900,C,G,P404679_F,KCNQ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,20717934,20717934,A,G,P404679_F,FOCAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOCAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69083073,69083073,G,T,P404679_F,FRG1HP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1HP;PGM5P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,128001830,128001830,A,G,P404679_F,HSPA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134039595,134039595,C,T,P404679_F,NUP214,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP214,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139849022,139849022,C,G,P404679_F,LCN12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,30915898,30915898,C,T,P404679_F,LYZL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LYZL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,932527,932527,G,C,P404679_F,AP2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5655762,5655762,T,C,P404679_F,TRIM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM34;TRIM6-TRIM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18743865,18743865,A,T,P404679_F,IGSF22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,42259770,42259770,T,C,P404679_F,LINC02740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,42259774,42259774,G,T,P404679_F,LINC02740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,57068624,57068624,C,T,P404679_F,TNKS1BP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNKS1BP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59737719,59737719,A,T,P404679_F,OOSP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,OOSP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,116653620,116653620,A,G,P404679_F,ZPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15102823,15102823,C,T,P404679_F,ARHGDIB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGDIB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105515083,105515083,C,A,P404679_F,WASHC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASHC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105515085,105515085,T,G,P404679_F,WASHC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASHC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78398061,78398061,G,A,P404679_F,CIB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIB2,NA,NA,NA,D,.,N,T,N,.
chr15,82808232,82808232,C,T,P404679_F,GOLGA6L17P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GOLGA6L17P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15178612,15178612,C,T,P404679_F,PDXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXDC1;RRN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70164248,70164248,T,C,P404679_F,PDPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70187164,70187164,G,A,P404679_F,PDPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1968740,1968740,C,T,P404679_F,SMG6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMG6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16855932,16855932,C,T,P404679_F,TNFRSF13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44268682,44268682,C,T,P404679_F,ST8SIA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST8SIA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6429900,6429900,G,A,P404679_F,SLC25A41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19766656,19766656,G,A,P404679_F,ATP13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38995642,38995642,G,A,P404679_F,RYR1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RYR1,NM_001042723:exon52:c.8232-1G>A;NM_000540:exon52:c.8232-1G>A,NA,NA,.,.,D,.,.,.
chr19,54723634,54723634,G,T,P404679_F,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11021106,11021106,A,G,P404679_F,BAGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22735382,22735382,A,G,P404679_F,BMS1P20,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,BMS1P20;ZNF280B,dist=58058;dist=103389,NA,NA,NA,NA,NA,NA,NA,NA
chrX,13397443,13397443,G,A,P404679_F,LINC01203,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01203;EGFL6,dist=37499;dist=190277,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16891553,16891553,C,T,P404679_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16892592,16892592,C,T,P404679_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17593352,17593352,G,C,P404679_S,PADI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PADI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39815116,39815116,G,A,P404679_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181705162,181705162,C,A,P404679_S,CACNA1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,190768859,190768859,G,T,P404679_S,LINC01720,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01720,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204120995,204120995,C,A,P404679_S,ETNK2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ETNK2,NM_001297760:c.-15G>T;NM_018208:c.-15G>T;NM_001297762:c.-15G>T;NM_001297761:c.-5119G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223805804,223805804,C,T,P404679_S,CAPN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,241936088,241936088,G,A,P404679_S,WDR64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,36780342,36780342,T,C,P404679_S,FEZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FEZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107042610,107042610,G,T,P404679_S,RGPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215609913,215609913,G,C,P404679_S,BARD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BARD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219903301,219903301,C,T,P404679_S,CFAP65,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CFAP65,NM_194302:exon4:c.154-1G>A;NM_001278295:exon4:c.121-1G>A;NM_001278296:exon3:UTR5;NM_152389:exon3:UTR5,NA,NA,.,.,N,.,.,.
chr2,232673440,232673440,G,A,P404679_S,COPS7B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,COPS7B,NM_001282951:c.*1085G>A;NM_001369483:c.*1085G>A;NM_001282949:c.*1085G>A;NM_001282952:c.*1085G>A;NM_022730:c.*1085G>A;NM_001282950:c.*1111G>A;NM_001308381:c.*1111G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52383454,52383454,C,T,P404679_S,DNAH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122632042,122632042,G,C,P404679_S,SEMA5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125641324,125641324,G,A,P404679_S,FAM86JP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM86JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169427458,169427458,G,A,P404679_S,MECOM,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MECOM;TERC,dist=45958;dist=54940,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196802622,196802622,C,G,P404679_S,DLG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,871105,871105,C,G,P404679_S,GAK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,38893565,38893565,G,A,P404679_S,FAM114A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM114A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42146052,42146052,C,T,P404679_S,BEND4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BEND4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,70275040,70275040,G,A,P404679_S,UGT2B28,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,UGT2B28;UGT2B4,dist=114272;dist=70843,NA,NA,NA,NA,NA,NA,NA,NA
chr4,91736862,91736862,G,A,P404679_S,CCSER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCSER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14389302,14389302,A,G,P404679_S,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,115426912,115426912,A,T,P404679_S,COMMD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMMD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150322270,150322270,C,T,P404679_S,ZNF300P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF300P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,822213,822213,G,C,P404679_S,DNAAF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAAF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1627716,1627716,C,T,P404679_S,PSMG3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PSMG3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48279024,48279024,T,C,P404679_S,ABCA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87179035,87179035,C,A,P404679_S,ABCB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140508855,140508855,C,A,P404679_S,BRAF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143043501,143043501,C,T,P404679_S,CLCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150697425,150697425,G,A,P404679_S,NOS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110437496,110437496,G,C,P404679_S,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133187900,133187900,C,G,P404679_S,KCNQ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,43861332,43861332,G,A,P404679_S,CNTNAP3P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CNTNAP3P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69083073,69083073,G,T,P404679_S,FRG1HP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1HP;PGM5P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,93375505,93375505,G,A,P404679_S,DIRAS2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DIRAS2,NM_017594:c.*5C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101787060,101787060,G,A,P404679_S,COL15A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL15A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,128001830,128001830,A,G,P404679_S,HSPA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,78772334,78772334,G,A,P404679_S,KCNMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,932527,932527,G,C,P404679_S,AP2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59737719,59737719,A,T,P404679_S,OOSP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,OOSP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76891582,76891582,C,T,P404679_S,MYO7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,116653620,116653620,A,G,P404679_S,ZPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10217286,10217286,G,A,P404679_S,CLEC9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15102823,15102823,C,T,P404679_S,ARHGDIB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGDIB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101295508,101295508,G,A,P404679_S,ANO4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ANO4,NM_001286615:c.-56G>A;NM_178826:c.-56G>A;NM_001286616:c.-56G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78398061,78398061,G,A,P404679_S,CIB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIB2,NA,NA,NA,D,.,N,T,N,.
chr16,21069264,21069264,C,A,P404679_S,DNAH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,33020541,33020541,G,A,P404679_S,SLC6A10P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC6A10P;TP53TG3,dist=124078;dist=185042,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55515871,55515871,C,T,P404679_S,MMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55989932,55989932,C,T,P404679_S,CES5A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CES5A,NM_001190158:c.-135G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70187164,70187164,G,A,P404679_S,PDPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16855932,16855932,C,T,P404679_S,TNFRSF13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40912558,40912558,C,G,P404679_S,RAMP2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RAMP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56386792,56386792,G,A,P404679_S,TSPOAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPOAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78069263,78069263,G,A,P404679_S,CCDC40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44268682,44268682,C,T,P404679_S,ST8SIA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST8SIA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19766656,19766656,G,A,P404679_S,ATP13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38995642,38995642,G,A,P404679_S,RYR1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RYR1,NM_001042723:exon52:c.8232-1G>A;NM_000540:exon52:c.8232-1G>A,NA,NA,.,.,D,.,.,.
chr19,51226985,51226985,G,T,P404679_S,CLEC11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62582183,62582183,C,T,P404679_S,UCKL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,UCKL1,NM_001193379:c.-4G>A;NM_001353478:c.-4G>A;NM_001353479:c.-4G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11021106,11021106,A,G,P404679_S,BAGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18717634,18717634,T,A,P404679_S,FAM230D,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230D;FAM230E,dist=29004;dist=3793,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44342775,44342775,G,A,P404679_S,PNPLA3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PNPLA3,NM_025225:c.*513G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1420366,1420366,C,T,P411907_F,ATAD3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATAD3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1581586,1581586,T,C,P411907_F,CDK11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1888333,1888333,G,A,P411907_F,CFAP74,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP74,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40209424,40209424,C,T,P411907_F,PPIE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100680608,100680608,A,T,P411907_F,DBT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150601856,150601856,C,A,P411907_F,ENSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176671912,176671912,T,A,P411907_F,PAPPA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183207653,183207653,T,G,P411907_F,LAMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196876695,196876695,T,A,P411907_F,CFHR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFHR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,66739502,66739502,A,G,P411907_F,MEIS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96953787,96953787,T,C,P411907_F,SNRNP200,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRNP200,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102026930,102026930,C,T,P411907_F,RFX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220433054,220433054,G,A,P411907_F,OBSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,13655458,13655458,G,T,P411907_F,FBLN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33540267,33540267,C,T,P411907_F,CLASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58635015,58635015,G,A,P411907_F,FAM3D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM3D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121774218,121774218,C,T,P411907_F,CD86,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CD86,NM_001206924:c.-119C>T;NM_001206925:c.-48323C>T;NM_175862:c.-119C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128628571,128628571,G,C,P411907_F,ACAD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,147108626,147108626,C,T,P411907_F,ZIC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZIC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166149905,166149905,C,G,P411907_F,KLHL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75884722,75884722,T,C,P411907_F,IQGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139927189,139927189,C,T,P411907_F,ANKHD1-EIF4EBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKHD1-EIF4EBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156464558,156464558,G,A,P411907_F,HAVCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAVCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178551857,178551857,A,G,P411907_F,ADAMTS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180470517,180470517,C,T,P411907_F,BTNL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTNL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,90353715,90353715,C,T,P411907_F,LOC101929057,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929057,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,7410252,7410252,G,A,P411907_F,COL28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30914947,30914947,G,A,P411907_F,INMT-MINDY4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,INMT-MINDY4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100172255,100172255,G,A,P411907_F,ZASP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZASP;LRCH4,NM_001289933:c.-76C>T;NM_002319:c.*475C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102724394,102724394,G,C,P411907_F,ARMC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140434607,140434607,G,A,P411907_F,BRAF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142197606,142197606,T,C,P411907_F,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=40188;dist=176525,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142197613,142197613,T,C,P411907_F,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=40195;dist=176518,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142760171,142760171,G,A,P411907_F,OR6W1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR6W1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151902166,151902166,A,T,P411907_F,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157926299,157926299,G,A,P411907_F,PTPRN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,2017539,2017539,T,G,P411907_F,MYOM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12453585,12453585,C,T,P411907_F,LOC729732,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC729732,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86556171,86556171,C,T,P411907_F,CA2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CA2;REXO1L2P,dist=162449;dist=10657,NA,NA,NA,NA,NA,NA,NA,NA
chr8,107752844,107752844,G,A,P411907_F,OXR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,119937123,119937123,T,C,P411907_F,TNFRSF11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,40293174,40293174,G,A,P411907_F,FAM74A1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM74A1;LOC105379450,dist=386955;dist=390645,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41955148,41955148,C,T,P411907_F,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,70488929,70488929,C,T,P411907_F,CBWD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBWD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,84532162,84532162,G,A,P411907_F,SPATA31D5P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SPATA31D5P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,93651007,93651007,A,G,P411907_F,SYK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,51469884,51469884,C,A,P411907_F,AGAP7P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,AGAP7P;TIMM23B-AGAP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,61946724,61946724,C,T,P411907_F,ANK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,81706200,81706200,C,G,P411907_F,SFTPD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFTPD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5655760,5655760,C,T,P411907_F,TRIM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM34;TRIM6-TRIM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,56309738,56309738,C,T,P411907_F,OR5M11,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR5M11,dist=78,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117241701,117241701,G,A,P411907_F,CEP164,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP164,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118257421,118257421,C,T,P411907_F,LOC100131626,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100131626,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,4553279,4553279,C,A,P411907_F,FGF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40894050,40894050,G,A,P411907_F,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96367877,96367877,C,T,P411907_F,HAL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HAL,NM_001258334:c.*261G>A;NM_001258333:c.*133G>A;NM_002108:c.*133G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,131781391,131781391,C,T,P411907_F,LINC02415,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02415,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23891765,23891765,G,A,P411907_F,MYH7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35780209,35780209,A,G,P411907_F,PSMA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72119605,72119605,C,T,P411907_F,MYO9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67056,67056,A,G,P411907_F,MIR6859-1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR6859-1;MIR6859-2;MIR6859-3;MIR6859-4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28780970,28780970,G,A,P411907_F,NPIPB9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPIPB9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30727902,30727902,A,T,P411907_F,SRCAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRCAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32949339,32949339,G,A,P411907_F,SLC6A10P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC6A10P;TP53TG3,dist=52876;dist=256244,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4495570,4495570,G,A,P411907_F,SMTNL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMTNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10233548,10233548,G,C,P411907_F,MYH13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,13928401,13928401,G,A,P411907_F,CDRT15P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CDRT15P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34087985,34087985,T,C,P411907_F,C17orf50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C17orf50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79623722,79623722,G,A,P411907_F,PDE6G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE6G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43495957,43495957,T,G,P411907_F,EPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6898453,6898453,C,T,P411907_F,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,30312747,30312747,G,A,P411907_F,CCNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38039873,38039873,C,T,P411907_F,ZNF571-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ZNF571-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11039441,11039441,G,C,P411907_F,BAGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26298941,26298941,C,T,P411907_F,MYO18B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO18B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43616395,43616395,G,A,P411907_F,SCUBE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCUBE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,128887367,128887367,C,T,P411907_F,XPNPEP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPNPEP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1249774,1249774,G,A,P411907_S,INTS11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1581586,1581586,T,C,P411907_S,CDK11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17085908,17085908,C,G,P411907_S,LOC102724562,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724562,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20417255,20417255,T,C,P411907_S,PLA2G5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLA2G5,NM_000929:c.*70T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47349050,47349050,T,C,P411907_S,CYP4Z2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CYP4Z2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,149290338,149290338,G,A,P411907_S,LOC644634,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC644634,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150551291,150551291,G,A,P411907_S,MCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150601856,150601856,C,A,P411907_S,ENSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156264390,156264390,C,A,P411907_S,GLMP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLMP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181727055,181727055,T,A,P411907_S,CACNA1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196876695,196876695,T,A,P411907_S,CFHR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFHR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55119551,55119551,C,A,P411907_S,EML6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,66739502,66739502,A,G,P411907_S,MEIS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85510452,85510452,C,T,P411907_S,TCF7L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF7L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,87211874,87211874,T,C,P411907_S,RGPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD1;RGPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96953787,96953787,T,C,P411907_S,SNRNP200,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRNP200,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102026930,102026930,C,T,P411907_S,RFX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114353009,114353009,G,A,P411907_S,WASH2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851845,118851845,A,T,P411907_S,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,161797312,161797312,C,G,P411907_S,RBMS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RBMS1;TANK,dist=446994;dist=196154,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191897943,191897943,G,C,P411907_S,STAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239139867,239139867,T,C,P411907_S,LINC02610,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02610,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,13655458,13655458,G,T,P411907_S,FBLN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33540267,33540267,C,T,P411907_S,CLASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38182881,38182881,C,A,P411907_S,MYD88,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYD88,NM_001172569:c.*238C>A;NM_001365877:c.*238C>A;NM_001365876:c.*238C>A;NM_001172568:c.*104C>A;NM_001172567:c.*104C>A;NM_001172566:c.*238C>A;NM_002468:c.*104C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42732605,42732605,G,T,P411907_S,KLHL40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48282714,48282714,G,A,P411907_S,ZNF589,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF589,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58635015,58635015,G,A,P411907_S,FAM3D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM3D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,112349127,112349127,G,A,P411907_S,CCDC80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121774218,121774218,C,T,P411907_S,CD86,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CD86,NM_001206924:c.-119C>T;NM_001206925:c.-48323C>T;NM_175862:c.-119C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124461227,124461227,G,T,P411907_S,UMPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UMPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128628571,128628571,G,C,P411907_S,ACAD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,147108626,147108626,C,T,P411907_S,ZIC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZIC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183515857,183515857,G,A,P411907_S,YEATS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YEATS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,193080334,193080334,G,A,P411907_S,ATP13A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2091083,2091083,G,T,P411907_S,POLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119431118,119431118,C,A,P411907_S,PRSS12,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRSS12;CEP170P1,dist=156960;dist=6362,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34191402,34191402,T,C,P411907_S,LOC646652,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC646652,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,60825876,60825876,C,T,P411907_S,ZSWIM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72794647,72794647,T,G,P411907_S,BTF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74680578,74680578,C,A,P411907_S,CERT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75884722,75884722,T,C,P411907_S,IQGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,99728376,99728376,C,T,P411907_S,LOC100133050,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100133050;FAM174A,dist=4418;dist=142702,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137751048,137751048,C,T,P411907_S,KDM3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139927189,139927189,C,T,P411907_S,ANKHD1-EIF4EBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKHD1-EIF4EBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,146080783,146080783,G,C,P411907_S,PPP2R2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156464558,156464558,G,A,P411907_S,HAVCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAVCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180470517,180470517,C,T,P411907_S,BTNL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTNL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,395956,395956,C,T,P411907_S,IRF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36285366,36285366,C,T,P411907_S,BNIP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,39564079,39564079,A,T,P411907_S,KIF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,39585656,39585656,C,A,P411907_S,KIF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42054562,42054562,C,T,P411907_S,TAF8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TAF8;C6orf132,dist=3552;dist=14295,NA,NA,NA,NA,NA,NA,NA,NA
chr6,46975058,46975058,T,A,P411907_S,ADGRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55214759,55214759,G,A,P411907_S,GFRAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFRAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,74073077,74073077,C,T,P411907_S,KHDC3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KHDC3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,90353715,90353715,C,T,P411907_S,LOC101929057,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929057,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160663202,160663202,G,A,P411907_S,SLC22A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,167275512,167275512,G,A,P411907_S,RPS6KA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168464234,168464234,G,T,P411907_S,FRMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,170060934,170060934,C,T,P411907_S,WDR27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4830521,4830521,G,T,P411907_S,AP5Z1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP5Z1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,18993586,18993586,T,C,P411907_S,HDAC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,35271319,35271319,G,T,P411907_S,TBX20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47920458,47920458,G,A,P411907_S,PKD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102724394,102724394,G,C,P411907_S,ARMC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142197606,142197606,T,C,P411907_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=40188;dist=176525,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142197613,142197613,T,C,P411907_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=40195;dist=176518,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142564988,142564988,G,A,P411907_S,EPHB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142760171,142760171,G,A,P411907_S,OR6W1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR6W1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149506678,149506678,G,T,P411907_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157234544,157234544,C,T,P411907_S,DNAJB6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,DNAJB6;LOC101927914,dist=24411;dist=24381,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157234826,157234826,G,T,P411907_S,DNAJB6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,DNAJB6;LOC101927914,dist=24693;dist=24099,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157926299,157926299,G,A,P411907_S,PTPRN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,2017539,2017539,T,G,P411907_S,MYOM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12453585,12453585,C,T,P411907_S,LOC729732,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC729732,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,24190128,24190128,C,A,P411907_S,LOC101929294,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929294,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62430576,62430576,C,T,P411907_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86556171,86556171,C,T,P411907_S,CA2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CA2;REXO1L2P,dist=162449;dist=10657,NA,NA,NA,NA,NA,NA,NA,NA
chr8,87581692,87581692,C,A,P411907_S,CPNE3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CPNE3;CNGB3,dist=7966;dist=4471,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95841327,95841327,C,A,P411907_S,INTS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,105367580,105367580,C,A,P411907_S,DCSTAMP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCSTAMP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,119937123,119937123,T,C,P411907_S,TNFRSF11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,132916617,132916617,G,C,P411907_S,EFR3A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EFR3A,NM_001323555:c.-40396G>C;NM_001323554:c.-40396G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133112147,133112147,G,T,P411907_S,HHLA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144885778,144885778,G,A,P411907_S,SCRIB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCRIB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,24544562,24544562,G,T,P411907_S,IZUMO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IZUMO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34655015,34655015,C,T,P411907_S,IL11RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL11RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,41955148,41955148,C,T,P411907_S,GLIDR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GLIDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415292,68415292,C,T,P411907_S,MIR4477B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4477B;LINC00537;MIR4477A,dist=16;dist=16,NA,NA,NA,NA,NA,NA,NA,NA
chr9,70488929,70488929,C,T,P411907_S,CBWD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBWD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,84532162,84532162,G,A,P411907_S,SPATA31D5P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SPATA31D5P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,93651007,93651007,A,G,P411907_S,SYK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,96278671,96278671,A,T,P411907_S,FAM120A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM120A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,61022039,61022039,C,T,P411907_S,FAM13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,61946724,61946724,C,T,P411907_S,ANK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,81706200,81706200,C,G,P411907_S,SFTPD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFTPD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,89720649,89720649,A,T,P411907_S,PTEN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PTEN,NM_000314:exon8:c.802-2A>T;NM_001304717:exon9:c.1321-2A>T;NM_001304718:exon8:c.211-2A>T,NA,NA,.,.,D,.,.,.
chr10,124359520,124359520,T,G,P411907_S,DMBT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMBT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2940678,2940678,G,A,P411907_S,SLC22A18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3712533,3712533,C,A,P411907_S,NUP98,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP98,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,10603401,10603401,A,C,P411907_S,MRVI1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MRVI1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,14488118,14488118,G,T,P411907_S,COPB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,26694921,26694921,A,C,P411907_S,SLC5A12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,45834214,45834214,C,G,P411907_S,SLC35C1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC35C1,NM_001145266:c.*1328C>G;NM_001145265:c.*1328C>G;NM_018389:c.*1328C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59420588,59420588,A,T,P411907_S,PATL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62559470,62559470,C,A,P411907_S,TMEM223,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TMEM223,NM_001080501:c.-4G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70002118,70002118,C,G,P411907_S,ANO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117241701,117241701,G,A,P411907_S,CEP164,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP164,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118898759,118898759,C,T,P411907_S,SLC37A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC37A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121427980,121427980,A,G,P411907_S,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1991873,1991873,G,A,P411907_S,CACNA2D4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7095953,7095953,C,A,P411907_S,LPCAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPCAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,14996229,14996229,C,T,P411907_S,ART4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ART4,NM_021071:c.-182G>A;NM_001354646:c.-182G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21623298,21623298,A,T,P411907_S,PYROXD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PYROXD1,NM_001350913:c.*1610A>T;NM_024854:c.*1610A>T;NM_001350912:c.*1610A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40858840,40858840,A,C,P411907_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40894050,40894050,G,A,P411907_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51121709,51121709,G,A,P411907_S,DIP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101295492,101295492,C,T,P411907_S,ANO4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ANO4,NM_001286615:c.-72C>T;NM_178826:c.-72C>T;NM_001286616:c.-72C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105432038,105432038,T,A,P411907_S,ALDH1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120594508,120594508,C,T,P411907_S,GCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,37539895,37539895,T,A,P411907_S,ALG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49913667,49913667,A,G,P411907_S,CAB39L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAB39L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35780209,35780209,A,G,P411907_S,PSMA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64925101,64925101,G,T,P411907_S,MTHFD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTHFD1;ZBTB25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96782785,96782785,G,A,P411907_S,ATG2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106232548,106232548,T,G,P411907_S,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=93404;dist=91745,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20495453,20495453,G,A,P411907_S,CHEK2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CHEK2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20645830,20645830,G,A,P411907_S,HERC2P3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HERC2P3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22928288,22928288,T,A,P411907_S,CYFIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYFIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23106046,23106046,A,G,P411907_S,LOC283683,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC283683,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41816183,41816183,C,A,P411907_S,RPAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69323623,69323623,G,T,P411907_S,NOX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72119605,72119605,C,T,P411907_S,MYO9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75562409,75562409,G,A,P411907_S,GOLGA6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102294323,102294323,G,A,P411907_S,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=7250;dist=51600,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2034986,2034986,T,A,P411907_S,GFER,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFER,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28780970,28780970,G,A,P411907_S,NPIPB9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPIPB9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30727902,30727902,A,T,P411907_S,SRCAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRCAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32926914,32926914,G,A,P411907_S,SLC6A10P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC6A10P;TP53TG3,dist=30451;dist=278669,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32949339,32949339,G,A,P411907_S,SLC6A10P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC6A10P;TP53TG3,dist=52876;dist=256244,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4442109,4442109,G,A,P411907_S,SPNS2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SPNS2,NM_001124758:c.*1366G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4642544,4642544,C,A,P411907_S,CXCL16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXCL16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4649058,4649058,G,C,P411907_S,ZMYND15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYND15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7350798,7350798,C,T,P411907_S,CHRNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8137639,8137639,C,A,P411907_S,CTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10233548,10233548,G,C,P411907_S,MYH13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,21730916,21730916,G,T,P411907_S,UBBP4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,UBBP4,NA,NA,NA,.,.,D,T,.,.
chr17,34087985,34087985,T,C,P411907_S,C17orf50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C17orf50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37826136,37826136,G,T,P411907_S,PNMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40762339,40762339,G,A,P411907_S,TUBG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48672602,48672602,C,T,P411907_S,CACNA1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72786162,72786162,G,A,P411907_S,TMEM104,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79105806,79105806,G,A,P411907_S,AATK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AATK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79249720,79249720,G,A,P411907_S,SLC38A10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79623722,79623722,G,A,P411907_S,PDE6G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE6G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43495957,43495957,T,G,P411907_S,EPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,73971770,73971770,A,G,P411907_S,LINC01893,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01893;ZNF516,dist=43991;dist=97867,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2737319,2737319,C,T,P411907_S,SLC39A3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC39A3,NM_144564:c.-64G>A;NM_213568:c.-64G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2810557,2810557,G,T,P411907_S,THOP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6898453,6898453,C,T,P411907_S,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7506784,7506784,C,T,P411907_S,ARHGEF18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12504051,12504051,C,T,P411907_S,ZNF799,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF799,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36214572,36214572,C,G,P411907_S,KMT2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38039873,38039873,C,T,P411907_S,ZNF571-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ZNF571-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38643651,38643651,C,A,P411907_S,SIPA1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIPA1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2442453,2442453,C,A,P411907_S,SNRPB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNRPB,NM_003091:c.*122G>T,NA,NA,.,D,D,.,.,T
chr20,3215307,3215307,T,G,P411907_S,SLC4A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42683253,42683253,C,A,P411907_S,TOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45518610,45518610,C,T,P411907_S,TRAPPC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45540775,45540775,C,T,P411907_S,LOC102724159,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC102724159;PWP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26298941,26298941,C,T,P411907_S,MYO18B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO18B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43026995,43026995,C,T,P411907_S,CYB5R3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CYB5R3,NM_007326:exon4:c.158-1G>A;NM_001171661:exon5:c.158-1G>A;NM_000398:exon4:c.227-1G>A;NM_001171660:exon4:c.326-1G>A;NM_001129819:exon4:c.158-1G>A,NA,NA,.,.,D,.,.,.
chr22,43616395,43616395,G,A,P411907_S,SCUBE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCUBE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16881030,16881030,G,C,P411907_S,RBBP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBBP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,101152711,101152711,G,A,P411907_S,ZMAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,128887367,128887367,C,T,P411907_S,XPNPEP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPNPEP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,21729102,21729102,C,A,P411907_S,TXLNGY,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TXLNGY,dist=142,NA,NA,NA,NA,NA,NA,NA,NA
chr1,14815,14815,C,T,P432157_F,WASH7P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH7P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47048645,47048645,G,A,P432157_F,MKNK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MKNK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,112991878,112991878,T,G,P432157_F,CTTNBP2NL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTTNBP2NL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120611365,120611365,G,A,P432157_F,NOTCH2NLR,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NOTCH2NLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144621424,144621424,G,A,P432157_F,NBPF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF19;NBPF20;NBPF8;NBPF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145115910,145115910,G,A,P432157_F,SEC22B2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SEC22B2P;SEC22B3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145287302,145287302,G,A,P432157_F,NOTCH2NLB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NOTCH2NLB,NM_001364007:c.*5271G>A;NM_001364008:c.*5271G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145311401,145311401,C,A,P432157_F,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,146399630,146399630,A,G,P432157_F,NBPF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF10;NBPF12;NBPF19;NBPF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151546710,151546710,C,A,P432157_F,TUFT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,241672160,241672160,C,T,P432157_F,FH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91766609,91766609,G,A,P432157_F,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;LOC107985911,dist=NONE;dist=38574,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96048239,96048239,C,T,P432157_F,KCNIP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNIP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851758,118851758,G,T,P432157_F,INSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,131995667,131995667,G,C,P432157_F,POTEE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,131995700,131995700,C,T,P432157_F,POTEE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152739898,152739898,T,C,P432157_F,CACNB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,190720619,190720619,A,C,P432157_F,PMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242102624,242102624,C,A,P432157_F,PPP1R7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33602510,33602510,T,C,P432157_F,CLASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,123694547,123694547,T,C,P432157_F,ROPN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,84240689,84240689,T,A,P432157_F,HPSE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPSE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,189019461,189019461,T,C,P432157_F,TRIML2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIML2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904414,190904414,T,C,P432157_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20068;dist=41092,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904448,190904448,C,T,P432157_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20102;dist=41058,NA,NA,NA,NA,NA,NA,NA,NA
chr5,59443492,59443492,A,C,P432157_F,PDE4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137844611,137844611,T,C,P432157_F,ETF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137909896,137909896,T,C,P432157_F,HSPA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149457462,149457462,A,C,P432157_F,CSF1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSF1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51897964,51897964,C,T,P432157_F,PKHD1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PKHD1,NM_138694:exon29:c.3229-1G>A;NM_170724:exon29:c.3229-1G>A,NA,NA,.,.,D,.,.,.
chr6,165809974,165809974,C,A,P432157_F,PDE10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102294217,102294217,G,A,P432157_F,POLR2J2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2J2;SPDYE2;SPDYE2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,117182207,117182207,T,C,P432157_F,CFTR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFTR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,144703306,144703306,C,A,P432157_F,TPK1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TPK1;CNTNAP2,dist=170160;dist=1768057,NA,NA,NA,NA,NA,NA,NA,NA
chr8,81553768,81553768,T,C,P432157_F,ZNF704,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF704,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133978711,133978711,C,G,P432157_F,TG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69440174,69440174,G,T,P432157_F,ANKRD20A4-ANKRD20A20P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ANKRD20A4-ANKRD20A20P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,71395034,71395034,A,C,P432157_F,FAM122A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM122A,NM_138333:c.-47A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr9,71863220,71863220,G,C,P432157_F,TJP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TJP2,NA,NA,NA,D,.,D,T,N,T
chr9,127233087,127233087,T,G,P432157_F,PSMB7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PSMB7;NR5A1,dist=55366;dist=10428,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118350714,118350714,G,A,P432157_F,PNLIPRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNLIPRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5655760,5655760,C,T,P432157_F,TRIM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM34;TRIM6-TRIM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49168595,49168595,C,T,P432157_F,FOLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76183533,76183533,A,G,P432157_F,EMSY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMSY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125851255,125851255,G,A,P432157_F,CDON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,22012680,22012680,C,T,P432157_F,ABCC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52866957,52866957,G,C,P432157_F,KRT6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69265801,69265801,C,T,P432157_F,CPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123702748,123702748,C,T,P432157_F,MPHOSPH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25020983,25020983,T,C,P432157_F,PARP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51452890,51452890,G,A,P432157_F,TRIM9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,66480335,66480335,G,A,P432157_F,FUT8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FUT8;CCDC196,dist=269496;dist=472754,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94079669,94079669,T,A,P432157_F,UNC79,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC79,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25427938,25427938,C,T,P432157_F,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74363681,74363681,A,C,P432157_F,GOLGA6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,93521458,93521458,G,T,P432157_F,CHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1311154,1311154,A,C,P432157_F,TPSD1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TPSD1;UBE2I,dist=2145;dist=47999,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38245733,38245733,G,A,P432157_F,THRA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,THRA,NM_199334:c.*24G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45660339,45660339,T,A,P432157_F,NPEPPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPEPPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,25593643,25593643,A,G,P432157_F,CDH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35979670,35979670,G,A,P432157_F,KRTDAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRTDAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50245381,50245381,G,A,P432157_F,ATP9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909683,10909683,T,C,P432157_F,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45833768,45833768,C,T,P432157_F,TRPM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,11776607,11776607,G,A,P432157_F,MSL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,17086629,17086629,G,A,P432157_F,REPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106229460,106229460,A,C,P432157_F,MORC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107965778,107965778,A,G,P432157_F,COL4A5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,COL4A5;IRS4,dist=25003;dist=9949,NA,NA,NA,NA,NA,NA,NA,NA
chrX,140336486,140336486,T,C,P432157_F,LDOC1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LDOC1;SPANXA2-OT1,dist=65172;dist=254357,NA,NA,NA,NA,NA,NA,NA,NA
chrX,149944377,149944377,C,T,P432157_F,CD99L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD99L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153678771,153678771,G,C,P432157_F,FAM50A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FAM50A,NM_004699:exon13:c.1012-1G>C,NA,NA,.,.,D,.,.,.
chr1,13184008,13184008,A,C,P432157_S,HNRNPCL2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HNRNPCL2,NM_001136561:c.-136T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145115910,145115910,G,A,P432157_S,SEC22B2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SEC22B2P;SEC22B3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209116,145209116,T,C,P432157_S,NOTCH2NLA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NOTCH2NLA,NM_001364006:c.-318T>C;NM_203458:c.-39741T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151546710,151546710,C,A,P432157_S,TUFT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173795821,173795821,A,T,P432157_S,DARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,210407338,210407338,T,A,P432157_S,SERTAD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERTAD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,243220460,243220460,A,G,P432157_S,LINC01347,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01347,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,72968602,72968602,T,A,P432157_S,EXOC6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114353290,114353290,T,C,P432157_S,WASH2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114357372,114357372,G,A,P432157_S,DDX11L2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DDX11L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33602510,33602510,T,C,P432157_S,CLASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195698388,195698388,G,T,P432157_S,SDHAP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SDHAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904414,190904414,T,C,P432157_S,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20068;dist=41092,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904448,190904448,C,T,P432157_S,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20102;dist=41058,NA,NA,NA,NA,NA,NA,NA,NA
chr5,59443492,59443492,A,C,P432157_S,PDE4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,59726236,59726236,T,A,P432157_S,PDE4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137844611,137844611,T,C,P432157_S,ETF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,69666197,69666197,G,A,P432157_S,ADGRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32594212,32594212,C,T,P432157_S,AVL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AVL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44875073,44875073,C,T,P432157_S,H2AFV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,H2AFV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50663299,50663299,T,C,P432157_S,GRB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72340901,72340901,G,C,P432157_S,SPDYE7P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SPDYE7P;POM121,dist=1245;dist=9027,NA,NA,NA,NA,NA,NA,NA,NA
chr7,74237397,74237397,G,T,P432157_S,GTF2IRD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2IRD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,71863220,71863220,G,C,P432157_S,TJP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TJP2,NA,NA,NA,D,.,D,T,N,T
chr9,77470276,77470276,G,A,P432157_S,TRPM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5655762,5655762,T,C,P432157_S,TRIM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM34;TRIM6-TRIM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49168595,49168595,C,T,P432157_S,FOLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89791018,89791018,T,C,P432157_S,TRIM49C,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM49C;UBTFL1,dist=15825;dist=28100,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52843783,52843783,T,C,P432157_S,KRT6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64838770,64838770,T,A,P432157_S,XPOT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPOT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69265801,69265801,C,T,P432157_S,CPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,99059327,99059327,A,T,P432157_S,APAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133428408,133428408,G,A,P432157_S,CHFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,34204390,34204390,C,T,P432157_S,NPAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50623669,50623669,G,A,P432157_S,SOS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51452890,51452890,G,A,P432157_S,TRIM9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106691688,106691688,C,A,P432157_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=253330;dist=52581,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25427938,25427938,C,T,P432157_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,31048088,31048088,T,C,P432157_S,LOC100288637,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100288637,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74363681,74363681,A,C,P432157_S,GOLGA6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74364445,74364445,C,T,P432157_S,GOLGA6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,93521458,93521458,G,T,P432157_S,CHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102516218,102516218,G,A,P432157_S,WASH3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,WASH3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67832,67832,A,G,P432157_S,MIR6859-1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR6859-1;MIR6859-2;MIR6859-3;MIR6859-4,dist=713,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27367415,27367415,T,C,P432157_S,IL4R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL4R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,25972473,25972473,G,A,P432157_S,LGALS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,72672573,72672573,C,G,P432157_S,ZNF407,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF407,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1298784,1298784,G,A,P432157_S,EFNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29623218,29623218,A,G,P432157_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909683,10909683,T,C,P432157_S,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11058353,11058353,T,C,P432157_S,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25054041,25054041,C,A,P432157_S,POM121L10P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,POM121L10P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,13397357,13397357,A,C,P432157_S,LINC01203,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01203;EGFL6,dist=37413;dist=190363,NA,NA,NA,NA,NA,NA,NA,NA
chrX,17086629,17086629,G,A,P432157_S,REPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6526242,6526242,G,A,R001_F,TNFRSF25,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TNFRSF25;PLEKHG5,NM_003790:c.-75C>T;NM_148967:c.-75C>T;NM_148970:c.-75C>T;NM_148966:c.-75C>T;NM_148965:c.-75C>T;NM_001039664:c.-75C>T;NM_001265593:c.*1381C>T;NM_001042665:c.*1381C>T;NM_001042664:c.*1381C>T;NM_001265592:c.*1381C>T;NM_198681:c.*1381C>T;NM_001265594:c.*1409C>T;NM_020631:c.*1381C>T;NM_001042663:c.*1381C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15430751,15430751,C,A,R001_F,KAZN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAZN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26900797,26900797,G,T,R001_F,RPS6KA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPS6KA1,NM_002953:c.*105G>T;NM_001330441:c.*105G>T;NM_001006665:c.*105G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36316429,36316429,C,A,R001_F,AGO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40779859,40779859,C,T,R001_F,COL9A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41494092,41494092,G,T,R001_F,SLFNL1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SLFNL1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,93580152,93580152,T,A,R001_F,MTF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118634188,118634188,C,T,R001_F,SPAG17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153191031,153191031,C,T,R001_F,PRR9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRR9,NM_001195571:c.*60C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159174679,159174679,C,G,R001_F,ACKR1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ACKR1,NM_001122951:c.-545C>G;NM_002036:c.-71C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,163116976,163116976,G,A,R001_F,RGS5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RGS5,NM_001254748:c.*156C>T;NM_001195303:c.*156C>T;NM_001254749:c.*156C>T;NM_003617:c.*156C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237906956,237906956,G,T,R001_F,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69177221,69177221,T,A,R001_F,GKN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GKN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,88478547,88478547,G,A,R001_F,THNSL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THNSL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91777902,91777902,C,T,R001_F,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;LOC107985911,dist=NONE;dist=27281,NA,NA,NA,NA,NA,NA,NA,NA
chr2,161029009,161029009,G,T,R001_F,ITGB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202531176,202531176,G,A,R001_F,MPP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,204039815,204039815,C,A,R001_F,NBEAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBEAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233273207,233273207,G,A,R001_F,ALPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234358607,234358607,G,A,R001_F,DGKD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238265836,238265836,T,C,R001_F,COL6A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,85985158,85985158,A,G,R001_F,CADM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,172236454,172236454,C,A,R001_F,TNFSF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFSF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185166067,185166067,C,G,R001_F,MAP3K13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1646077,1646077,G,A,R001_F,FAM53A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM53A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,37448913,37448913,A,G,R001_F,NWD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NWD2,NM_001144990:c.*74A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr4,44691790,44691790,T,G,R001_F,GUF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,139994747,139994747,A,T,R001_F,ELF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,141484193,141484193,G,A,R001_F,UCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,19571602,19571602,A,C,R001_F,CDH18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32383791,32383791,C,T,R001_F,ZFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54403950,54403950,C,T,R001_F,GZMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GZMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,102237224,102237224,C,A,R001_F,PAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122739503,122739503,C,T,R001_F,CEP120,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP120,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,135416092,135416092,A,T,R001_F,VTRNA2-1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,VTRNA2-1,dist=88,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180674089,180674089,G,T,R001_F,CTC-338M12.4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CTC-338M12.4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56499094,56499094,A,G,R001_F,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,158483221,158483221,G,A,R001_F,SYNJ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNJ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27192239,27192239,A,G,R001_F,HOXA-AS3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HOXA-AS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76131586,76131586,G,A,R001_F,DTX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76131597,76131597,A,G,R001_F,DTX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100554977,100554977,T,C,R001_F,MUC3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103290719,103290719,A,G,R001_F,RELN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RELN,NM_173054:exon16:c.2002+2T>C;NM_005045:exon16:c.2002+2T>C,NA,NA,.,.,D,.,.,.
chr7,129945587,129945587,C,A,R001_F,CPA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142046027,142046027,T,G,R001_F,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=73959;dist=111315,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11413010,11413010,G,A,R001_F,BLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66499770,66499770,G,T,R001_F,PTGER4P2-CDK2AP2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PTGER4P2-CDK2AP2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,91680553,91680553,C,A,R001_F,SHC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115380741,115380741,G,C,R001_F,KIAA1958,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1958,NA,NA,NA,T,N,D,.,N,T
chr9,115939119,115939119,C,G,R001_F,FKBP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FKBP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116997863,116997863,G,T,R001_F,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136035415,136035415,G,C,R001_F,GBGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,1053961,1053961,A,G,R001_F,GTPBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5248362,5248362,T,C,R001_F,AKR1C4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,AKR1C4,NM_001818:exon5:c.570+2T>C,NA,NA,.,.,D,.,.,.
chr10,33134724,33134724,T,C,R001_F,CCDC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,122611895,122611895,G,T,R001_F,WDR11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64029410,64029410,A,T,R001_F,PLCB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,31087746,31087746,C,T,R001_F,LOC100288637,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100288637;HERC2P10,dist=22537;dist=22493,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20386332,20386332,G,A,R001_F,PDILT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDILT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20749336,20749336,C,A,R001_F,THUMPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THUMPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31138286,31138286,G,T,R001_F,KAT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31332369,31332369,T,A,R001_F,ITGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70815907,70815907,C,G,R001_F,VAC14,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,VAC14,NM_018052:exon8:c.812-1G>C;NM_001351157:exon7:c.110-1G>C,NA,NA,.,.,D,.,.,.
chr17,72613217,72613217,G,A,R001_F,LOC101928343,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928343,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6908477,6908477,C,A,R001_F,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11169419,11169419,G,A,R001_F,SMARCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14150758,14150758,C,T,R001_F,IL27RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL27RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18324305,18324305,G,T,R001_F,PDE4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22836174,22836174,C,T,R001_F,ZNF492,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF492,NM_020855:c.-28C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36358971,36358971,A,G,R001_F,APLP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,APLP1;KIRREL2,dist=376;dist=933,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38991402,38991402,C,G,R001_F,RYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42364930,42364930,T,C,R001_F,RPS19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49605485,49605485,C,T,R001_F,SNRNP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRNP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54798164,54798164,C,T,R001_F,MIR4752,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4752;LILRA3,dist=12129;dist=1686,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10922030,10922030,G,A,R001_F,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47703894,47703894,T,C,R001_F,MCM3AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM3AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,49668100,49668100,C,T,R001_F,LINC01310,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01310;NONE,dist=373902;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6526242,6526242,G,A,R001_S,TNFRSF25,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TNFRSF25;PLEKHG5,NM_003790:c.-75C>T;NM_148967:c.-75C>T;NM_148970:c.-75C>T;NM_148966:c.-75C>T;NM_148965:c.-75C>T;NM_001039664:c.-75C>T;NM_001265593:c.*1381C>T;NM_001042665:c.*1381C>T;NM_001042664:c.*1381C>T;NM_001265592:c.*1381C>T;NM_198681:c.*1381C>T;NM_001265594:c.*1409C>T;NM_020631:c.*1381C>T;NM_001042663:c.*1381C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40779859,40779859,C,T,R001_S,COL9A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,93580152,93580152,T,A,R001_S,MTF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118634188,118634188,C,T,R001_S,SPAG17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153191031,153191031,C,T,R001_S,PRR9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRR9,NM_001195571:c.*60C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159174679,159174679,C,G,R001_S,ACKR1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ACKR1,NM_001122951:c.-545C>G;NM_002036:c.-71C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237906956,237906956,G,T,R001_S,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,88478547,88478547,G,A,R001_S,THNSL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THNSL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91777902,91777902,C,T,R001_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;LOC107985911,dist=NONE;dist=27281,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136481969,136481969,G,T,R001_S,R3HDM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,R3HDM1,NM_001282799:c.*107G>T;NM_015361:c.*107G>T;NM_001354200:c.*107G>T;NM_001354199:c.*107G>T;NM_001282798:c.*107G>T;NM_001282800:c.*107G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234358607,234358607,G,A,R001_S,DGKD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,240701825,240701825,C,T,R001_S,LOC150935,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC150935,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,37448913,37448913,A,G,R001_S,NWD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NWD2,NM_001144990:c.*74A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr4,139994747,139994747,A,T,R001_S,ELF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,141484193,141484193,G,A,R001_S,UCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32383791,32383791,C,T,R001_S,ZFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54403950,54403950,C,T,R001_S,GZMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GZMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180674089,180674089,G,T,R001_S,CTC-338M12.4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CTC-338M12.4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56499094,56499094,A,G,R001_S,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,70194073,70194073,G,A,R001_S,AUTS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AUTS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103290719,103290719,A,G,R001_S,RELN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RELN,NM_173054:exon16:c.2002+2T>C;NM_005045:exon16:c.2002+2T>C,NA,NA,.,.,D,.,.,.
chr8,11413010,11413010,G,A,R001_S,BLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,28608444,28608444,C,T,R001_S,EXTL3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EXTL3,NM_001440:c.*61C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127962867,127962867,C,G,R001_S,RABEPK,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RABEPK,NM_005833:c.-2426C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr10,1053961,1053961,A,G,R001_S,GTPBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5248362,5248362,T,C,R001_S,AKR1C4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,AKR1C4,NM_001818:exon5:c.570+2T>C,NA,NA,.,.,D,.,.,.
chr11,64029410,64029410,A,T,R001_S,PLCB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124246934,124246934,C,T,R001_S,DNAH10,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DNAH10;ATP6V0A2,dist=108;dist=633,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24028836,24028836,C,A,R001_S,AP1G2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AP1G2;THTPA,NM_001282475:c.*122G>T;NM_001282474:c.*122G>T;NM_001354677:c.*122G>T;NM_001354675:c.*122G>T;NM_001354673:c.*122G>T;NM_001354674:c.*122G>T;NM_003917:c.*122G>T;NM_001354681:c.*122G>T;NM_024328:c.*787C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,93447639,93447639,G,T,R001_S,MIR3175,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR3175,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20386332,20386332,G,A,R001_S,PDILT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDILT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20749336,20749336,C,A,R001_S,THUMPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THUMPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7644016,7644016,C,A,R001_S,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72613217,72613217,G,A,R001_S,LOC101928343,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928343,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80626065,80626065,C,A,R001_S,RAB40B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB40B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,580824,580824,A,C,R001_S,BSG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BSG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11169419,11169419,G,A,R001_S,SMARCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16942461,16942461,A,G,R001_S,SIN3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIN3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18104017,18104017,C,A,R001_S,KCNN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18324305,18324305,G,T,R001_S,PDE4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22836174,22836174,C,T,R001_S,ZNF492,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF492,NM_020855:c.-28C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36358971,36358971,A,G,R001_S,APLP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,APLP1;KIRREL2,dist=376;dist=933,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38991402,38991402,C,G,R001_S,RYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51563940,51563940,G,A,R001_S,KLK13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54798164,54798164,C,T,R001_S,MIR4752,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4752;LILRA3,dist=12129;dist=1686,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10922030,10922030,G,A,R001_S,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47703894,47703894,T,C,R001_S,MCM3AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM3AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,49668100,49668100,C,T,R001_S,LINC01310,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01310;NONE,dist=373902;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1690005,1690005,C,G,R002_F,NADK,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NADK,NM_001198995:c.-35G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23208807,23208807,C,T,R002_F,EPHB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100527358,100527358,C,G,R002_F,MFSD14A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD14A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,111674392,111674392,A,G,R002_F,DRAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,152857336,152857336,C,A,R002_F,SMCP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SMCP,NM_030663:c.*87C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179063196,179063196,C,G,R002_F,TOR3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOR3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,67629986,67629986,T,G,R002_F,ETAA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETAA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113611147,113611147,C,T,R002_F,IL1B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IL1B;IL37,dist=16791;dist=59401,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162696257,162696257,G,C,R002_F,SLC4A10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,189447269,189447269,G,C,R002_F,GULP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GULP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,189918702,189918702,G,T,R002_F,COL5A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207013689,207013689,A,T,R002_F,NDUFS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234725611,234725611,G,A,R002_F,MROH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238166250,238166250,C,T,R002_F,COPS8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,COPS8;COL6A3,dist=157133;dist=66405,NA,NA,NA,NA,NA,NA,NA,NA
chr3,1134628,1134628,C,T,R002_F,CNTN6,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CNTN6,dist=80,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108549495,108549495,G,A,R002_F,TRAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139068917,139068917,T,A,R002_F,MRPS22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPS22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170858381,170858381,C,G,R002_F,TNIK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197846903,197846903,A,G,R002_F,ANKRD18DP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANKRD18DP;FAM157B,dist=39361;dist=33007,NA,NA,NA,NA,NA,NA,NA,NA
chr4,41749361,41749361,C,T,R002_F,PHOX2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHOX2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114299322,114299322,G,C,R002_F,ANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,158091964,158091964,G,T,R002_F,GLRB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GLRB,NM_001166061:c.*373G>T;NM_000824:c.*84G>T;NM_001166060:c.*84G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4087558,4087558,C,T,R002_F,IRX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IRX1;LINC02114,dist=486041;dist=686036,NA,NA,NA,NA,NA,NA,NA,NA
chr5,39134931,39134931,G,A,R002_F,FYB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FYB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74491419,74491419,C,G,R002_F,ANKRD31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74715079,74715079,A,T,R002_F,CERT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,98234483,98234483,A,C,R002_F,CHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,98234494,98234494,G,C,R002_F,CHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139232165,139232165,C,T,R002_F,NRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176798453,176798453,G,A,R002_F,RGS14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,345973,345973,G,A,R002_F,DUSP22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUSP22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,79724768,79724768,G,C,R002_F,PHIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,7680166,7680166,C,A,R002_F,RPA3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RPA3,NM_002947:c.-117G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27191272,27191272,G,A,R002_F,HOXA-AS3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HOXA-AS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107878217,107878217,T,C,R002_F,NRCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,116829332,116829332,T,A,R002_F,ST7-OT3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ST7-OT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154681077,154681077,C,T,R002_F,DPP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,23115388,23115388,G,A,R002_F,CHMP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHMP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,71044305,71044305,C,G,R002_F,NCOA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,75926358,75926358,G,A,R002_F,CRISPLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRISPLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100831126,100831126,A,G,R002_F,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145010315,145010315,G,T,R002_F,PLEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140173068,140173068,C,T,R002_F,TOR4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOR4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71025338,71025338,C,A,R002_F,HKDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HKDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3412744,3412744,G,A,R002_F,OR7E12P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR7E12P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124747143,124747143,C,T,R002_F,ROBO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6232453,6232453,C,T,R002_F,VWF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15819468,15819468,C,A,R002_F,EPS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18243180,18243180,G,A,R002_F,RERGL,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RERGL,dist=53,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48880605,48880605,G,A,R002_F,C12orf54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133310434,133310434,G,C,R002_F,ANKLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,33836341,33836341,T,A,R002_F,NPAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,33836342,33836342,C,A,R002_F,NPAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,52223846,52223846,C,A,R002_F,FRMD6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRMD6;GNG2,dist=26402;dist=103484,NA,NA,NA,NA,NA,NA,NA,NA
chr14,60034898,60034898,C,T,R002_F,CCDC175,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC175,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,26866459,26866459,A,G,R002_F,GABRB3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GABRB3,NM_001278631:exon5:c.206+2T>C;NM_001191320:exon2:c.206+2T>C;NM_000814:exon4:c.461+2T>C;NM_021912:exon4:c.461+2T>C;NM_001191321:exon2:c.248+2T>C,NA,NA,.,.,D,.,.,.
chr15,42734270,42734270,C,A,R002_F,ZNF106,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZNF106,NM_001284306:exon6:c.1249+1G>T;NM_001284307:exon8:c.1378+1G>T;NM_001366844:exon8:c.1378+1G>T;NM_001366845:exon10:c.3763+1G>T;NM_022473:exon7:c.3694+1G>T;NM_001366846:exon10:c.3763+1G>T,NA,NA,.,.,D,.,.,.
chr15,64048573,64048573,G,T,R002_F,HERC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,95399268,95399268,C,T,R002_F,LOC440311,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC440311,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,33941691,33941691,C,T,R002_F,ENPP7P13,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ENPP7P13;MIR9901,dist=354949;dist=24354,NA,NA,NA,NA,NA,NA,NA,NA
chr16,48228004,48228004,C,A,R002_F,ABCC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69345450,69345450,C,G,R002_F,VPS4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70416970,70416970,C,A,R002_F,ST3GAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST3GAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7909441,7909441,A,G,R002_F,GUCY2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26947046,26947046,A,C,R002_F,KIAA0100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29653271,29653271,G,A,R002_F,NF1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NF1,NM_000267:exon36:c.5205+1G>A;NM_001042492:exon37:c.5268+1G>A,NA,NA,.,.,D,.,.,.
chr17,40489919,40489919,T,G,R002_F,STAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12067565,12067565,G,C,R002_F,IMPA2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IMPA2;ANKRD62,dist=36689;dist=26277,NA,NA,NA,NA,NA,NA,NA,NA
chr18,20555357,20555357,T,G,R002_F,RBBP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBBP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,39593336,39593336,G,C,R002_F,PIK3C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6908852,6908852,G,C,R002_F,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13346007,13346007,G,A,R002_F,CACNA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37253168,37253168,C,G,R002_F,ZNF850,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF850,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55589646,55589646,A,G,R002_F,EPS8L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,59061471,59061471,A,C,R002_F,TRIM28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36977893,36977893,T,C,R002_F,LBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43048562,43048562,C,T,R002_F,HNF4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNF4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43138484,43138484,G,A,R002_F,SERINC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45797759,45797759,C,G,R002_F,EYA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47735140,47735140,C,A,R002_F,STAU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62581942,62581942,C,A,R002_F,UCKL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCKL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,19168820,19168820,C,G,R002_F,C21orf91,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C21orf91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54041081,54041081,A,G,R002_F,PHF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,55187221,55187221,A,G,R002_F,FAM104B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM104B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,77380966,77380966,C,A,R002_F,PGK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,14969645,14969645,T,C,R002_F,USP9Y,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP9Y,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6525483,6525483,C,T,R002_S,TNFRSF25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38297839,38297839,T,C,R002_S,MTF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44443565,44443565,C,A,R002_S,ATP6V0B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ATP6V0B,NM_001294333:c.*482C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44443566,44443566,C,T,R002_S,ATP6V0B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ATP6V0B,NM_001294333:c.*483C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148903089,148903089,G,A,R002_S,DRD5P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DRD5P2;LOC101060524,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158636085,158636085,G,A,R002_S,SPTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,249152725,249152725,C,T,R002_S,ZNF692,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF692,NM_001136036:c.-12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1497923,1497923,T,A,R002_S,TPO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74086374,74086374,T,C,R002_S,STAMBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAMBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91678909,91678909,G,C,R002_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;LOC107985911,dist=NONE;dist=126274,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91678982,91678982,G,A,R002_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;LOC107985911,dist=NONE;dist=126201,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113671240,113671240,T,G,R002_S,IL37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158300559,158300559,A,G,R002_S,CYTIP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CYTIP,NM_004288:c.-27T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234725611,234725611,G,A,R002_S,MROH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238166250,238166250,C,T,R002_S,COPS8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,COPS8;COL6A3,dist=157133;dist=66405,NA,NA,NA,NA,NA,NA,NA,NA
chr3,6903026,6903026,A,C,R002_S,GRM7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GRM7,NM_181874:c.-50A>C;NM_000844:c.-50A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42240936,42240936,G,A,R002_S,TRAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46935604,46935604,C,T,R002_S,PTH1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTH1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65350708,65350708,A,G,R002_S,MAGI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,154034043,154034043,T,C,R002_S,DHX36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48039400,48039400,T,A,R002_S,NIPAL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NIPAL1,NM_207330:c.*1211T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57316880,57316880,A,T,R002_S,PAICS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAICS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,109817735,109817735,T,G,R002_S,COL25A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL25A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,39134931,39134931,G,A,R002_S,FYB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FYB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74491419,74491419,C,G,R002_S,ANKRD31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,77004187,77004187,A,G,R002_S,TBCA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139232165,139232165,C,T,R002_S,NRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,175958449,175958449,G,C,R002_S,RNF44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,175958682,175958682,G,C,R002_S,RNF44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176378433,176378433,G,A,R002_S,UIMC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UIMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176943103,176943103,C,G,R002_S,DDX41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,345973,345973,G,A,R002_S,DUSP22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUSP22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,25653842,25653842,T,G,R002_S,SCGN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCGN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20682754,20682754,A,G,R002_S,ABCB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27191272,27191272,G,A,R002_S,HOXA-AS3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HOXA-AS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76924239,76924239,A,G,R002_S,CCDC146,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCDC146,NM_020879:c.*56A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98633487,98633487,A,G,R002_S,LOC101927550,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101927550,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107878217,107878217,T,C,R002_S,NRCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151882474,151882474,C,G,R002_S,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,37417865,37417865,G,A,R002_S,LINC01605,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01605;ZNF703,dist=38961;dist=135435,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82713702,82713702,G,C,R002_S,SNX16,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNX16,NM_152837:c.*30C>G;NM_001348189:c.*30C>G;NM_022133:c.*30C>G;NM_152836:c.*30C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100831126,100831126,A,G,R002_S,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125987800,125987800,A,G,R002_S,ZNF572,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF572,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,16421186,16421186,T,C,R002_S,BNC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,16583109,16583109,G,T,R002_S,BNC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,88661526,88661526,A,C,R002_S,GOLM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139982742,139982742,C,T,R002_S,MAN1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,18122716,18122716,A,G,R002_S,MRC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,37422985,37422985,A,G,R002_S,ANKRD30A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD30A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3412744,3412744,G,A,R002_S,OR7E12P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR7E12P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6423139,6423139,G,A,R002_S,APBB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124747143,124747143,C,T,R002_S,ROBO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6972955,6972955,C,A,R002_S,USP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18243180,18243180,G,A,R002_S,RERGL,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RERGL,dist=53,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48880605,48880605,G,A,R002_S,C12orf54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117739837,117739837,G,A,R002_S,NOS1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NOS1,NM_001204214:c.-13840C>T;NM_001204213:c.-13840C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133359210,133359210,C,T,R002_S,GOLGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31790693,31790693,G,T,R002_S,HEATR5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36986408,36986408,G,T,R002_S,SFTA3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SFTA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,60034898,60034898,C,T,R002_S,CCDC175,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC175,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42734270,42734270,C,A,R002_S,ZNF106,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZNF106,NM_001284306:exon6:c.1249+1G>T;NM_001284307:exon8:c.1378+1G>T;NM_001366844:exon8:c.1378+1G>T;NM_001366845:exon10:c.3763+1G>T;NM_022473:exon7:c.3694+1G>T;NM_001366846:exon10:c.3763+1G>T,NA,NA,.,.,D,.,.,.
chr15,95399268,95399268,C,T,R002_S,LOC440311,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC440311,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69368358,69368358,C,A,R002_S,COG8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29653271,29653271,G,A,R002_S,NF1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NF1,NM_000267:exon36:c.5205+1G>A;NM_001042492:exon37:c.5268+1G>A,NA,NA,.,.,D,.,.,.
chr17,47219541,47219541,C,T,R002_S,B4GALNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12067565,12067565,G,C,R002_S,IMPA2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IMPA2;ANKRD62,dist=36689;dist=26277,NA,NA,NA,NA,NA,NA,NA,NA
chr19,646743,646743,C,G,R002_S,RNF126,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,RNF126,dist=783,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6908852,6908852,G,C,R002_S,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9000104,9000104,C,A,R002_S,MUC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13210066,13210066,C,A,R002_S,LYL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LYL1,NM_005583:c.*67G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13210067,13210067,C,G,R002_S,LYL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LYL1,NM_005583:c.*66G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13346007,13346007,G,A,R002_S,CACNA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23556819,23556819,A,G,R002_S,ZNF91,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39949548,39949548,T,A,R002_S,SUPT5H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPT5H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,59061471,59061471,A,C,R002_S,TRIM28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,8773172,8773172,G,T,R002_S,PLCB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36977893,36977893,T,C,R002_S,LBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43138484,43138484,G,A,R002_S,SERINC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45797759,45797759,C,G,R002_S,EYA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,59431606,59431606,A,C,R002_S,MIR548AG2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR548AG2;LINC01718,dist=291923;dist=222514,NA,NA,NA,NA,NA,NA,NA,NA
chr21,19168820,19168820,C,G,R002_S,C21orf91,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C21orf91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,77380966,77380966,C,A,R002_S,PGK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,14969645,14969645,T,C,R002_S,USP9Y,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP9Y,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1158885,1158885,C,T,R003_F,SDF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1858236,1858236,C,T,R003_F,CFAP74,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP74,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113241140,113241140,C,A,R003_F,MOV10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOV10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223400797,223400797,C,A,R003_F,SUSD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUSD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207275496,207275496,C,A,R003_F,ZDBF2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZDBF2;ADAM23,dist=96346;dist=32760,NA,NA,NA,NA,NA,NA,NA,NA
chr2,210837131,210837131,C,T,R003_F,UNC80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,16302105,16302105,T,C,R003_F,DPH3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DPH3,NM_206831:c.*166A>G;NM_001047434:c.*166A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130124927,130124927,T,C,R003_F,COL6A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,62542690,62542690,A,T,R003_F,ADGRL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,62861882,62861882,A,G,R003_F,ADGRL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71062757,71062757,G,A,R003_F,ODAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ODAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119428057,119428057,G,A,R003_F,PRSS12,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRSS12;CEP170P1,dist=153899;dist=9423,NA,NA,NA,NA,NA,NA,NA,NA
chr4,157999345,157999345,G,A,R003_F,GLRB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLRB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76703467,76703467,C,A,R003_F,PDE8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141334469,141334469,G,A,R003_F,PCDH12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDH12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149901438,149901438,G,C,R003_F,NDST1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDST1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169435410,169435410,G,C,R003_F,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,170818879,170818879,A,C,R003_F,NPM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,39034220,39034220,G,A,R003_F,GLP1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLP1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48048807,48048807,G,A,R003_F,SUN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128036812,128036812,C,T,R003_F,IMPDH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMPDH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130249910,130249910,C,T,R003_F,LRSAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRSAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115412901,115412901,G,A,R003_F,NRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,57135944,57135944,G,C,R003_F,P2RX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P2RX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63673629,63673629,C,G,R003_F,MARK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65637483,65637483,G,A,R003_F,EFEMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFEMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2721310,2721310,C,T,R003_F,CACNA1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57870473,57870473,G,A,R003_F,ARHGAP9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ARHGAP9,NM_001319851:c.-66C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122437431,122437431,A,G,R003_F,WDR66,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR66,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,78178655,78178655,C,A,R003_F,SCEL-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SCEL-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42311494,42311494,C,A,R003_F,PLA2G4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84558817,84558817,T,G,R003_F,ADAMTSL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66511460,66511460,C,A,R003_F,BEAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BEAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46048312,46048312,G,T,R003_F,CDK5RAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK5RAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3614639,3614639,C,T,R003_F,CACTIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACTIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9020884,9020884,G,A,R003_F,MUC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36508479,36508479,C,A,R003_F,CLIP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIP3;LOC101927572,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47863366,47863366,G,C,R003_F,DHX34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54725992,54725992,G,A,R003_F,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54726014,54726014,A,G,R003_F,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55711546,55711546,G,A,R003_F,PTPRH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58565465,58565465,G,A,R003_F,ZSCAN1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZSCAN1,NM_182572:c.*46G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52824545,52824545,C,A,R003_F,PFDN4,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PFDN4,dist=81,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61951028,61951028,C,A,R003_F,COL20A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL20A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,15663735,15663735,A,C,R003_F,ABCC13,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ABCC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23029718,23029718,A,T,R003_F,GGTLC2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGTLC2;MIR650,dist=39350;dist=135552,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19024303,19024303,C,T,R003_F,ADGRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48752793,48752793,G,T,R003_F,TIMM17B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMM17B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,65253224,65253224,C,T,R003_F,VSIG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSIG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,74725735,74725735,A,C,R003_F,ZDHHC15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,114953363,114953363,C,T,R003_F,PLS3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PLS3;DANT2,dist=68184;dist=3366,NA,NA,NA,NA,NA,NA,NA,NA
chrX,147007041,147007041,T,C,R003_F,FMR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151239145,151239145,C,G,R003_S,PSMD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55193935,55193935,G,T,R003_S,EML6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,5754805,5754805,C,A,R003_S,RIC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33922341,33922341,C,A,R003_S,UBAP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UBAP2,NM_018449:c.*161G>T;NM_001282530:c.*161G>T;NM_001370059:c.*161G>T;NM_001370062:c.*161G>T;NM_001370064:c.*161G>T;NM_001370066:c.*161G>T;NM_001370068:c.*161G>T;NM_001370067:c.*161G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,85613442,85613442,C,A,R003_S,RASEF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95018947,95018947,C,A,R003_S,IARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,14810605,14810605,G,C,R003_S,PDE3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24836555,24836555,C,A,R003_S,NFATC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFATC4,NA,NA,NA,.,.,A,.,.,.
chr14,61995750,61995750,G,C,R003_S,PRKCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,76054552,76054552,A,G,R003_S,MIR4313,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR4313,dist=4,NA,NA,NA,NA,NA,NA,NA,NA
chr16,789780,789780,C,A,R003_S,CIAO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIAO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37413630,37413630,G,A,R003_S,ZNF568,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF568,NM_001204838:c.-43G>A;NM_198539:c.-43G>A;NM_001204835:c.-43G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24480927,24480927,C,A,R003_S,CABIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CABIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100509602,100509602,C,A,R003_S,DRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3418578,3418578,T,C,R004_F,MEGF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,75097396,75097396,C,G,R004_F,ERICH3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ERICH3,NM_001002912:exon7:c.819+1G>C,NA,NA,.,.,D,.,.,.
chr1,111989705,111989705,A,G,R004_F,WDR77,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR77,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247702037,247702037,G,A,R004_F,GCSAML,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GCSAML,NM_001281834:c.-10457G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238461844,238461844,C,A,R004_F,MLPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,23942594,23942594,C,T,R004_F,NKIRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NKIRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27332898,27332898,A,G,R004_F,NEK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33058099,33058099,T,C,R004_F,GLB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169831075,169831075,A,C,R004_F,PHC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,178984582,178984582,C,T,R004_F,KCNMB3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KCNMB3,NM_001163677:c.-84G>A;NM_171828:c.-84G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904286,190904286,T,C,R004_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=19940;dist=41220,NA,NA,NA,NA,NA,NA,NA,NA
chr5,60628867,60628867,G,T,R004_F,ZSWIM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88768388,88768388,C,A,R004_F,SPACA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPACA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160133699,160133699,C,A,R004_F,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23808861,23808861,C,T,R004_F,STK31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,26223425,26223425,T,G,R004_F,NFE2L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFE2L3,NA,NA,NA,.,.,N,.,.,.
chr7,138597307,138597307,G,A,R004_F,KIAA1549,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1549,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22972142,22972142,A,G,R004_F,TNFRSF10C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF10C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86573858,86573858,G,A,R004_F,REXO1L2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,REXO1L2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,3469207,3469207,C,A,R004_F,RFX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34976780,34976780,C,T,R004_F,PHF24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79792736,79792736,C,G,R004_F,VPS13A-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,VPS13A-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50530457,50530457,A,T,R004_F,C10orf71,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C10orf71,NM_001135196:c.-134A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7693837,7693837,G,A,R004_F,CYB5R2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYB5R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,20696145,20696145,G,T,R004_F,NELL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NELL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46744903,46744903,G,T,R004_F,F2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89885411,89885411,G,T,R004_F,NAALAD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAALAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,100064202,100064202,G,A,R004_F,CNTN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7060569,7060569,C,T,R004_F,PTPN6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTPN6,NM_080549:c.-107C>T;NM_002831:c.-107C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18446819,18446819,T,A,R004_F,PIK3C2G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3C2G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,48562546,48562546,G,T,R004_F,SUCLA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUCLA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114290493,114290493,G,A,R004_F,TFDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,97411612,97411612,G,A,R004_F,LINC00618,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00618,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103928641,103928641,G,A,R004_F,MARK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,48063992,48063992,G,A,R004_F,SEMA6D,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEMA6D,NM_001198999:c.*10G>A;NM_001358352:c.*10G>A;NM_001358351:c.*10G>A;NM_020858:c.*10G>A;NM_153616:c.*10G>A;NM_153618:c.*10G>A;NM_153617:c.*10G>A;NM_153619:c.*1248G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55175058,55175058,C,T,R004_F,LILRB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11058349,11058349,T,G,R004_F,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,7890044,7890044,C,A,R004_F,PNPLA4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PNPLA4,NM_004650:exon3:c.275+1G>T;NM_001142389:exon3:c.275+1G>T;NM_001172672:exon2:c.14+1G>T,NA,NA,.,.,D,.,.,.
chrX,11200331,11200331,G,A,R004_F,ARHGAP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,150345437,150345437,G,A,R004_F,GPR50-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GPR50-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152935347,152935347,C,T,R004_F,PNCK,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PNCK,NM_001366978:c.*246G>A;NM_001366980:c.*242G>A;NM_001366976:c.*242G>A;NM_001366979:c.*246G>A;NM_001366977:c.*246G>A;NM_001135740:c.*246G>A;NM_001366975:c.*246G>A;NM_001039582:c.*246G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6586942,6586942,T,G,R004_S,NOL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70460337,70460337,C,A,R004_S,LRRC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,111989705,111989705,A,G,R004_S,WDR77,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR77,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247471693,247471693,C,A,R004_S,ZNF496,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF496,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247702037,247702037,G,A,R004_S,GCSAML,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GCSAML,NM_001281834:c.-10457G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24307240,24307240,G,A,R004_S,TP53I3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TP53I3,NM_004881:c.-44C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37374743,37374743,A,G,R004_S,EIF2AK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2AK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160206900,160206900,T,G,R004_S,BAZ2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAZ2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,23942594,23942594,C,T,R004_S,NKIRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NKIRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27332898,27332898,A,G,R004_S,NEK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113012811,113012811,T,A,R004_S,CFAP44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169831075,169831075,A,C,R004_S,PHC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,178984582,178984582,C,T,R004_S,KCNMB3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KCNMB3,NM_001163677:c.-84G>A;NM_171828:c.-84G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,53209,53209,C,T,R004_S,ZNF595,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF595,NM_001286052:c.-174C>T;NM_001286053:c.-32736C>T;NM_001286054:c.-32736C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5758137,5758137,G,T,R004_S,EVC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EVC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,80329482,80329482,G,A,R004_S,GK2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,GK2,dist=100,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1295228,1295228,G,A,R004_S,TERT,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TERT,dist=45,NA,NA,NA,NA,NA,NA,NA,NA
chr5,53371230,53371230,A,T,R004_S,ARL15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,60628867,60628867,G,T,R004_S,ZSWIM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,26223425,26223425,T,G,R004_S,NFE2L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFE2L3,NA,NA,NA,.,.,N,.,.,.
chr7,30882215,30882215,G,A,R004_S,INMT-MINDY4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,INMT-MINDY4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,126079109,126079109,C,T,R004_S,GRM8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GRM8,NM_001127323:c.*119G>A;NM_001371084:c.*64G>A;NM_001371085:c.*119G>A;NM_001371087:c.*64G>A;NM_001371086:c.*41G>A;NM_001371083:c.*64G>A;NM_000845:c.*64G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138597307,138597307,G,A,R004_S,KIAA1549,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1549,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142470225,142470225,A,G,R004_S,PRSS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRSS1;PRSS3P2,dist=9302;dist=8532,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142470254,142470254,C,G,R004_S,PRSS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRSS1;PRSS3P2,dist=9331;dist=8503,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22972142,22972142,A,G,R004_S,TNFRSF10C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF10C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34976780,34976780,C,T,R004_S,PHF24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,126774582,126774582,C,T,R004_S,LHX2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LHX2,NM_004789:c.-46C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104235808,104235808,G,T,R004_S,MFSD13A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MFSD13A,NM_024789:c.*67G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7693837,7693837,G,A,R004_S,CYB5R2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYB5R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,20696145,20696145,G,T,R004_S,NELL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NELL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121475748,121475748,A,G,R004_S,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7060569,7060569,C,T,R004_S,PTPN6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTPN6,NM_080549:c.-107C>T;NM_002831:c.-107C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8757081,8757081,G,T,R004_S,AICDA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AICDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18446819,18446819,T,A,R004_S,PIK3C2G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3C2G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101295444,101295444,G,A,R004_S,ANO4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ANO4,NM_001286615:c.-120G>A;NM_178826:c.-120G>A;NM_001286616:c.-120G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,97411612,97411612,G,A,R004_S,LINC00618,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00618,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103928641,103928641,G,A,R004_S,MARK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20454100,20454100,T,A,R004_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;CHEK2P2,dist=NONE;dist=33897,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20454101,20454101,T,A,R004_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;CHEK2P2,dist=NONE;dist=33896,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25332814,25332814,G,C,R004_S,SNORD116-20,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORD116-20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25332817,25332817,G,C,R004_S,SNORD116-20,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORD116-20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,48063992,48063992,G,A,R004_S,SEMA6D,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEMA6D,NM_001198999:c.*10G>A;NM_001358352:c.*10G>A;NM_001358351:c.*10G>A;NM_020858:c.*10G>A;NM_153616:c.*10G>A;NM_153618:c.*10G>A;NM_153617:c.*10G>A;NM_153619:c.*1248G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72968353,72968353,G,T,R004_S,HIGD2B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HIGD2B,NM_001350932:c.*42C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21036032,21036032,C,A,R004_S,DNAH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50816454,50816454,C,T,R004_S,CYLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84684638,84684638,G,T,R004_S,KLHL36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,90161618,90161618,C,T,R004_S,PRDM7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRDM7;FAM157B,dist=19280;dist=6849,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19607622,19607622,C,A,R004_S,SLC47A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC47A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42451976,42451976,G,A,R004_S,ITGA2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,28660322,28660322,C,T,R004_S,DSC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5903833,5903833,C,T,R004_S,NDUFA11,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NDUFA11,dist=32,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7075029,7075029,G,A,R004_S,ZNF557,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF557,NM_001044387:c.-57G>A;NM_001044388:c.-57G>A;NM_024341:c.-57G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19412980,19412980,C,A,R004_S,SUGP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUGP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22836936,22836936,G,A,R004_S,ZNF492,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF492,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43910757,43910757,G,A,R004_S,TEX101,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX101,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55175058,55175058,C,T,R004_S,LILRB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42176811,42176811,G,A,R004_S,L3MBTL1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,L3MBTL1;SGK2,dist=6276;dist=10856,NA,NA,T,.,.,T,N,T
chr21,11058349,11058349,T,G,R004_S,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,7890044,7890044,C,A,R004_S,PNPLA4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PNPLA4,NM_004650:exon3:c.275+1G>T;NM_001142389:exon3:c.275+1G>T;NM_001172672:exon2:c.14+1G>T,NA,NA,.,.,D,.,.,.
chrX,11200331,11200331,G,A,R004_S,ARHGAP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,71710759,71710759,C,A,R004_S,HDAC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,150345437,150345437,G,A,R004_S,GPR50-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GPR50-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152935347,152935347,C,T,R004_S,PNCK,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PNCK,NM_001366978:c.*246G>A;NM_001366980:c.*242G>A;NM_001366976:c.*242G>A;NM_001366979:c.*246G>A;NM_001366977:c.*246G>A;NM_001135740:c.*246G>A;NM_001366975:c.*246G>A;NM_001039582:c.*246G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40701417,40701417,C,G,R005_F,RLF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RLF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148902298,148902298,G,A,R005_F,DRD5P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DRD5P2;LOC101060524,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196658858,196658858,G,A,R005_F,CFH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238004436,238004436,G,A,R005_F,COPS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,240062836,240062836,G,A,R005_F,HDAC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,6828354,6828354,A,T,R005_F,GRM7-AS3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GRM7-AS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124053108,124053108,G,A,R005_F,KALRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KALRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,107181507,107181507,A,G,R005_F,TBCK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,840506,840506,C,T,R005_F,ZDHHC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,96217149,96217149,C,T,R005_F,ERAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179746025,179746025,G,A,R005_F,GFPT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFPT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10685179,10685179,A,G,R005_F,C6orf52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C6orf52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,25108681,25108681,C,G,R005_F,CMAHP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CMAHP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27806896,27806896,C,T,R005_F,HIST1H2AK,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,HIST1H2AK;HIST1H2BN,dist=779;dist=8,NA,NA,NA,NA,NA,NA,NA,NA
chr6,85470227,85470227,C,A,R005_F,TBX18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,132272328,132272328,C,A,R005_F,CCN2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCN2,NM_001901:c.-16G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56082928,56082928,T,C,R005_F,PSPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72081933,72081933,G,A,R005_F,TYW1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76631515,76631515,G,A,R005_F,DTX2P1-UPK3BP1-PMS2P11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DTX2P1-UPK3BP1-PMS2P11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107208231,107208231,C,T,R005_F,DUS4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUS4L;DUS4L-BCAP29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134779040,134779040,C,G,R005_F,CYREN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYREN,NM_001305630:c.*286G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142564829,142564829,C,T,R005_F,EPHB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10558043,10558043,G,A,R005_F,C8orf74,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C8orf74,NM_001040032:c.*62G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,24209620,24209620,G,A,R005_F,LOC101929294,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929294,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39843058,39843058,C,A,R005_F,IDO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62491435,62491435,C,T,R005_F,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121224679,121224679,C,A,R005_F,COL14A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL14A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,132991016,132991016,T,C,R005_F,EFR3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFR3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,14740113,14740113,C,A,R005_F,FREM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FREM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112195593,112195593,C,T,R005_F,PTPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137623810,137623810,C,T,R005_F,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137623837,137623837,G,A,R005_F,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47179273,47179273,G,A,R005_F,C11orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,55035932,55035932,C,T,R005_F,TRIM48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59997284,59997284,A,T,R005_F,MS4A4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62600641,62600641,C,T,R005_F,LOC105369332,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105369332,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,85670028,85670028,G,C,R005_F,PICALM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PICALM,NM_007166:c.*61C>G;NM_001008660:c.*61C>G;NM_001206946:c.*61C>G;NM_001206947:c.*61C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr12,19626326,19626326,T,A,R005_F,AEBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AEBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,22837798,22837798,G,T,R005_F,ETNK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETNK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40916358,40916358,T,C,R005_F,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80852826,80852826,C,T,R005_F,PTPRQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96350453,96350453,G,A,R005_F,AMDHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMDHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21876998,21876998,C,T,R005_F,CHD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92488210,92488210,C,T,R005_F,TRIP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25325429,25325429,G,A,R005_F,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,31115955,31115955,C,T,R005_F,HERC2P10,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HERC2P10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65862633,65862633,A,C,R005_F,HACD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HACD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101434444,101434444,C,A,R005_F,LOC101927751,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101927751,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20042958,20042958,G,A,R005_F,GPR139,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPR139,NM_001002911:c.*99C>T;NM_001318483:c.*99C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89951086,89951086,G,T,R005_F,TCF25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7734238,7734238,G,A,R005_F,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38910591,38910591,G,A,R005_F,KRT25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74570417,74570417,G,A,R005_F,ST6GALNAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST6GALNAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61310597,61310597,G,A,R005_F,SERPINB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1497944,1497944,C,T,R005_F,REEP6,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,REEP6,dist=18,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5827654,5827654,C,T,R005_F,NRTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14034302,14034302,G,A,R005_F,CC2D1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CC2D1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15794223,15794223,C,A,R005_F,CYP4F12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36135850,36135850,A,G,R005_F,ETV2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,ETV2,dist=77,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43866487,43866487,C,T,R005_F,CD177,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CD177,NM_020406:c.*15C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49671434,49671434,C,T,R005_F,TRPM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53625804,53625804,C,T,R005_F,ZNF415,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF415,NM_001136038:c.-133G>A;NM_001352130:c.-133G>A;NM_001352131:c.-133G>A;NM_001352132:c.-6165G>A;NM_001352133:c.-6165G>A;NM_001352136:c.-133G>A;NM_001352137:c.-133G>A;NM_001352138:c.-6165G>A;NM_001352141:c.-6165G>A;NM_001352142:c.-133G>A;NM_001352143:c.-133G>A;NM_001352144:c.-133G>A;NM_001352148:c.-6751G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53952742,53952742,G,C,R005_F,ZNF761,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF761;ZNF765-ZNF761,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55445785,55445785,G,A,R005_F,NLRP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55450169,55450169,C,T,R005_F,NLRP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55967312,55967312,G,A,R005_F,ISOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ISOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30436731,30436731,G,A,R005_F,DUSP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUSP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42232962,42232962,A,G,R005_F,IFT52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62073959,62073959,C,A,R005_F,KCNQ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30316305,30316305,G,A,R005_F,LTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30316308,30316308,A,T,R005_F,LTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19209347,19209347,T,A,R005_F,CLTCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45944486,45944486,G,A,R005_F,FBLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48676558,48676558,G,A,R005_F,HDAC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48900761,48900761,G,T,R005_F,TFE3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TFE3,NM_001282142:c.-3911C>A;NM_006521:c.-9C>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48929978,48929978,C,T,R005_F,PRAF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRAF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100085916,100085916,G,C,R005_F,CSTF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSTF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107417666,107417666,T,A,R005_F,COL4A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118920809,118920809,C,T,R005_F,RPL39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153217930,153217930,C,T,R005_F,HCFC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCFC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,75766450,75766450,G,T,R005_S,SLC44A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110457046,110457046,G,A,R005_S,CSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148902298,148902298,G,A,R005_S,DRD5P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DRD5P2;LOC101060524,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196658858,196658858,G,A,R005_S,CFH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,75720355,75720355,C,A,R005_S,EVA1A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EVA1A,NM_001135032:c.*7G>T;NM_001369525:c.*7G>T;NM_001369524:c.*7G>T;NM_032181:c.*7G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238004436,238004436,G,A,R005_S,COPS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,112262968,112262968,G,A,R005_S,ATG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124053108,124053108,G,A,R005_S,KALRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KALRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2178070,2178070,G,C,R005_S,POLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,21305688,21305688,G,C,R005_S,KCNIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,21305721,21305721,A,G,R005_S,KCNIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,107181507,107181507,A,G,R005_S,TBCK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1093775,1093775,G,A,R005_S,SLC12A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,96217149,96217149,C,T,R005_S,ERAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,161520811,161520811,T,C,R005_S,GABRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10685179,10685179,A,G,R005_S,C6orf52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C6orf52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,15401306,15401306,A,G,R005_S,JARID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JARID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,32609581,32609581,C,T,R005_S,HLA-DQA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLA-DQA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,34512335,34512335,A,T,R005_S,SPDEF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPDEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20420534,20420534,T,C,R005_S,ITGB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107208231,107208231,C,T,R005_S,DUS4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUS4L;DUS4L-BCAP29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134779040,134779040,C,G,R005_S,CYREN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYREN,NM_001305630:c.*286G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142564829,142564829,C,T,R005_S,EPHB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,182794,182794,G,T,R005_S,ZNF596,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF596,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10558043,10558043,G,A,R005_S,C8orf74,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C8orf74,NM_001040032:c.*62G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39843058,39843058,C,A,R005_S,IDO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62491435,62491435,C,T,R005_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95206809,95206809,G,A,R005_S,CDH17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121224679,121224679,C,A,R005_S,COL14A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL14A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142525033,142525033,G,A,R005_S,MROH5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MROH5;MIR1302-7,dist=7703;dist=342570,NA,NA,NA,NA,NA,NA,NA,NA
chr9,14740113,14740113,C,A,R005_S,FREM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FREM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69777919,69777919,C,T,R005_S,LOC101928381,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928381;FOXD4L5,dist=20135;dist=397788,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137623810,137623810,C,T,R005_S,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137623837,137623837,G,A,R005_S,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71657193,71657193,C,T,R005_S,COL13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47179273,47179273,G,A,R005_S,C11orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59997284,59997284,A,T,R005_S,MS4A4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61909006,61909006,G,A,R005_S,INCENP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INCENP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62600641,62600641,C,T,R005_S,LOC105369332,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105369332,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72363527,72363527,T,C,R005_S,PDE2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,85670028,85670028,G,C,R005_S,PICALM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PICALM,NM_007166:c.*61C>G;NM_001008660:c.*61C>G;NM_001206946:c.*61C>G;NM_001206947:c.*61C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr12,19626326,19626326,T,A,R005_S,AEBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AEBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40916358,40916358,T,C,R005_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80852826,80852826,C,T,R005_S,PTPRQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96350453,96350453,G,A,R005_S,AMDHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMDHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21876998,21876998,C,T,R005_S,CHD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92488210,92488210,C,T,R005_S,TRIP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25325429,25325429,G,A,R005_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,51032061,51032061,C,A,R005_S,SPPL2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPPL2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65862633,65862633,A,C,R005_S,HACD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HACD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,92715166,92715166,G,C,R005_S,SLCO3A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLCO3A1,NM_001145044:c.*74G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr15,95399402,95399402,G,A,R005_S,LOC440311,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC440311,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20042958,20042958,G,A,R005_S,GPR139,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPR139,NM_001002911:c.*99C>T;NM_001318483:c.*99C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,34257197,34257197,G,A,R005_S,MIR9901,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR9901;CCNYL3,dist=291057;dist=7523,NA,NA,NA,NA,NA,NA,NA,NA
chr16,51098550,51098550,A,G,R005_S,LINC02127,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02127;SALL1,dist=28862;dist=71336,NA,NA,NA,NA,NA,NA,NA,NA
chr16,64984588,64984588,C,T,R005_S,CDH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66432084,66432084,G,A,R005_S,CDH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66998833,66998833,C,T,R005_S,CES3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CES3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,72132466,72132466,T,C,R005_S,DHX38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19585005,19585005,G,A,R005_S,SLC47A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC47A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74570417,74570417,G,A,R005_S,ST6GALNAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST6GALNAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61310597,61310597,G,A,R005_S,SERPINB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,855840,855840,G,A,R005_S,ELANE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELANE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1497944,1497944,C,T,R005_S,REEP6,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,REEP6,dist=18,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14034302,14034302,G,A,R005_S,CC2D1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CC2D1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36135850,36135850,A,G,R005_S,ETV2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,ETV2,dist=77,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42409795,42409795,G,T,R005_S,ARHGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49671434,49671434,C,T,R005_S,TRPM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53625804,53625804,C,T,R005_S,ZNF415,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF415,NM_001136038:c.-133G>A;NM_001352130:c.-133G>A;NM_001352131:c.-133G>A;NM_001352132:c.-6165G>A;NM_001352133:c.-6165G>A;NM_001352136:c.-133G>A;NM_001352137:c.-133G>A;NM_001352138:c.-6165G>A;NM_001352141:c.-6165G>A;NM_001352142:c.-133G>A;NM_001352143:c.-133G>A;NM_001352144:c.-133G>A;NM_001352148:c.-6751G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53952742,53952742,G,C,R005_S,ZNF761,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF761;ZNF765-ZNF761,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55301683,55301683,G,C,R005_S,KIR2DL1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,KIR2DL1;LOC112268354,dist=5909;dist=13308,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55445785,55445785,G,A,R005_S,NLRP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55450169,55450169,C,T,R005_S,NLRP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5283482,5283482,C,A,R005_S,PROKR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROKR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,13699401,13699401,T,A,R005_S,ESF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30436731,30436731,G,A,R005_S,DUSP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUSP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19209347,19209347,T,A,R005_S,CLTCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26894755,26894755,G,T,R005_S,TFIP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFIP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45944486,45944486,G,A,R005_S,FBLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48900761,48900761,G,T,R005_S,TFE3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TFE3,NM_001282142:c.-3911C>A;NM_006521:c.-9C>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53460617,53460617,G,A,R005_S,HSD17B10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107417666,107417666,T,A,R005_S,COL4A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118920809,118920809,C,T,R005_S,RPL39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,149637929,149637929,G,C,R005_S,MAMLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAMLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,242162194,242162194,A,G,R006_F,MAP1LC3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP1LC3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,33411870,33411870,C,A,R006_F,LTBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,24836686,24836686,G,A,R006_F,CCDC149,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC149,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,432892,432892,C,T,R006_F,AHRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,135215934,135215934,C,A,R006_F,SLC25A48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,397027,397027,C,T,R006_F,IRF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,46684881,46684881,G,A,R006_F,PLA2G7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152488868,152488868,A,T,R006_F,MIR3163,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR3163,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,80303262,80303262,C,T,R006_F,CD36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142760166,142760166,G,A,R006_F,OR6W1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR6W1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,104432293,104432293,C,T,R006_F,GRIN3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIN3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73390788,73390788,A,G,R006_F,RAB6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,29673380,29673380,G,T,R006_F,TMTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69128618,69128618,G,T,R006_F,NUP107,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP107,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,85554379,85554379,C,T,R006_F,LRRIQ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRIQ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132636784,132636784,C,T,R006_F,NOC4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOC4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3458944,3458944,C,A,R006_F,ZNF174,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF174,NM_003450:c.*25C>A;NM_001347868:c.*25C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71434049,71434049,C,T,R006_F,SDK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,7232108,7232108,C,A,R006_F,LRRC30,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,LRRC30,dist=22,NA,NA,NA,NA,NA,NA,NA,NA
chr18,10705759,10705759,C,A,R006_F,PIEZO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIEZO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44013495,44013495,G,A,R006_F,RNF165,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF165,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17286467,17286467,G,A,R006_F,MYO9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45029127,45029127,C,A,R006_F,CEACAM20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45094497,45094497,C,A,R006_F,RRP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47625967,47625967,C,T,R006_F,LSS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24332053,24332053,G,A,R006_F,SUPT20HL2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SUPT20HL2,dist=543,NA,NA,NA,NA,NA,NA,NA,NA
chrX,138619611,138619611,C,A,R006_F,F9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1721746,1721746,T,C,R006_S,GNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3327919,3327919,G,C,R006_S,PRDM16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17531651,17531651,G,A,R006_S,PADI1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PADI1,NM_013358:c.-62G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36040497,36040497,C,T,R006_S,TFAP2E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFAP2E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67579384,67579384,C,A,R006_S,C1orf141,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf141,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70831808,70831808,A,T,R006_S,HHLA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHLA3,NA,NA,NA,.,.,N,.,.,.
chr1,108247423,108247423,A,G,R006_S,VAV3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114522307,114522307,T,C,R006_S,OLFML3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OLFML3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115455831,115455831,G,T,R006_S,SYCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118558884,118558884,A,T,R006_S,SPAG17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,121303983,121303983,C,T,R006_S,EMBP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,EMBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,146514342,146514342,A,T,R006_S,LOC728989,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC728989,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160460310,160460310,A,G,R006_S,SLAMF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLAMF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,170135600,170135600,G,C,R006_S,METTL11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,172522382,172522382,G,T,R006_S,SUCO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUCO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201328327,201328327,G,A,R006_S,TNNT2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNNT2,NM_001001432:c.*11C>T;NM_001276347:c.*11C>T;NM_001001430:c.*11C>T;NM_001276345:c.*11C>T;NM_000364:c.*11C>T;NM_001276346:c.*11C>T;NM_001001431:c.*11C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202183444,202183444,C,G,R006_S,LGR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,203151844,203151844,G,A,R006_S,CHI3L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHI3L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,203151845,203151845,G,A,R006_S,CHI3L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHI3L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207196847,207196847,T,A,R006_S,C1orf116,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf116,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1457378,1457378,C,A,R006_S,TPO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,9474824,9474824,T,C,R006_S,ASAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31564445,31564445,C,A,R006_S,XDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91678937,91678937,T,G,R006_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;LOC107985911,dist=NONE;dist=126246,NA,NA,NA,NA,NA,NA,NA,NA
chr2,105955943,105955943,T,C,R006_S,C2orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118753163,118753163,A,G,R006_S,CCDC93,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC93,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,150061066,150061066,G,A,R006_S,LYPD6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LYPD6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162247773,162247773,G,A,R006_S,PSMD14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165768344,165768344,G,A,R006_S,SLC38A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241702133,241702133,C,T,R006_S,KIF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15537800,15537800,C,G,R006_S,MIR4270,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4270,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27427538,27427538,A,G,R006_S,SLC4A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39448189,39448189,G,A,R006_S,RPSA,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RPSA,dist=22,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45565436,45565436,C,T,R006_S,LARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45781058,45781058,T,C,R006_S,SACM1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SACM1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53858044,53858044,C,G,R006_S,CHDH,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CHDH,NM_018397:c.-9G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr3,100073554,100073554,A,G,R006_S,NIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,101383649,101383649,A,G,R006_S,ZBTB11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108096312,108096312,C,G,R006_S,HHLA2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HHLA2,NM_001282556:c.*187C>G;NM_001282559:c.*187C>G;NM_001282558:c.*187C>G;NM_001370244:c.*187C>G;NM_007072:c.*187C>G;NM_001282557:c.*187C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119196141,119196141,T,C,R006_S,POGLUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POGLUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126748181,126748181,C,G,R006_S,PLXNA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,137888908,137888908,T,C,R006_S,DBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148868597,148868597,A,G,R006_S,HPS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,189587064,189587064,G,C,R006_S,TP63,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TP63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1067542,1067542,A,G,R006_S,RNF212,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF212,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25153462,25153462,C,A,R006_S,SEPSECS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPSECS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,46930237,46930237,C,T,R006_S,GABRA4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GABRA4,NM_001204267:c.*5G>A;NM_000809:c.*5G>A;NM_001204266:c.*5G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79396469,79396469,C,A,R006_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,108641366,108641366,C,A,R006_S,PAPSS1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PAPSS1,NM_005443:c.-31G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,186611655,186611655,A,G,R006_S,SORBS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORBS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,432892,432892,C,T,R006_S,AHRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,7696020,7696020,C,G,R006_S,ADCY2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35789510,35789510,A,G,R006_S,SPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55088732,55088732,G,A,R006_S,DDX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,73090315,73090315,C,G,R006_S,ARHGEF28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76012225,76012225,G,C,R006_S,F2R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F2R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179994255,179994255,A,G,R006_S,CNOT6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,397027,397027,C,T,R006_S,IRF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24850748,24850748,G,C,R006_S,RIPOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIPOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36341178,36341178,A,T,R006_S,ETV7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36931442,36931442,C,T,R006_S,PI16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PI16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,129837292,129837292,C,A,R006_S,LAMA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,138615329,138615329,C,G,R006_S,ARFGEF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGEF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,147632726,147632726,C,T,R006_S,STXBP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STXBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,944834,944834,C,T,R006_S,ADAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5074871,5074871,G,C,R006_S,RNF216P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RNF216P1;RBAK,dist=37071;dist=10620,NA,NA,NA,NA,NA,NA,NA,NA
chr7,33304006,33304006,T,A,R006_S,BBS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,36934680,36934680,A,C,R006_S,ELMO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38256612,38256612,T,A,R006_S,STARD3NL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STARD3NL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38370454,38370454,A,G,R006_S,TARP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TARP;TRG-AS1,dist=57206;dist=10724,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72726895,72726895,G,A,R006_S,TRIM50,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRIM50,NM_001281451:c.*22C>T;NM_001281450:c.*22C>T;NM_178125:c.*22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73243863,73243863,A,C,R006_S,CLDN3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CLDN3;CLDN4,dist=59263;dist=1330,NA,NA,NA,NA,NA,NA,NA,NA
chr7,81689739,81689739,C,G,R006_S,CACNA2D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103280915,103280915,T,G,R006_S,RELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104766195,104766195,A,G,R006_S,SRPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,106522693,106522693,G,A,R006_S,PIK3CG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,121623697,121623697,G,C,R006_S,PTPRZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,144098090,144098090,C,T,R006_S,NOBOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOBOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151891292,151891292,T,G,R006_S,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155757675,155757675,C,T,R006_S,LOC389602,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LOC389602,NM_001291913:c.*79C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17817721,17817721,C,T,R006_S,PCM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38810286,38810286,C,T,R006_S,PLEKHA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41504257,41504257,A,G,R006_S,NKX6-3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NKX6-3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,43147959,43147959,C,A,R006_S,POTEA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124154726,124154726,A,G,R006_S,TBC1D31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131066919,131066919,A,G,R006_S,ASAP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ASAP1,NM_001362926:c.*58T>C;NM_001247996:c.*58T>C;NM_001362924:c.*58T>C;NM_001362925:c.*58T>C;NM_018482:c.*58T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34486264,34486264,T,C,R006_S,DNAI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35712183,35712183,C,A,R006_S,TLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37955838,37955838,T,C,R006_S,SHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66499770,66499770,G,T,R006_S,PTGER4P2-CDK2AP2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PTGER4P2-CDK2AP2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,80863525,80863525,T,C,R006_S,CEP78,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,80868122,80868122,A,G,R006_S,CEP78,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95838343,95838343,G,A,R006_S,SUSD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUSD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113431121,113431121,C,T,R006_S,MUSK,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MUSK,NM_001166281:c.-64C>T;NM_005592:c.-64C>T;NM_001166280:c.-64C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116778514,116778514,G,A,R006_S,ZNF618,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF618,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123206054,123206054,T,A,R006_S,CDK5RAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK5RAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130996269,130996269,C,T,R006_S,DNM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136081830,136081830,G,A,R006_S,OBP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBP2B,NA,NA,NA,.,.,N,.,.,.
chr10,8093196,8093196,C,A,R006_S,GATA3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GATA3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94654487,94654487,G,A,R006_S,EXOC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96122736,96122736,C,A,R006_S,NOC3L,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NOC3L,dist=40,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96974748,96974748,C,G,R006_S,ACSM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1009081,1009081,C,A,R006_S,AP2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1102319,1102319,G,A,R006_S,MUC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1220719,1220719,G,C,R006_S,MUC5AC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC5AC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,32861644,32861644,T,C,R006_S,PRRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,43772548,43772548,A,G,R006_S,HSD17B12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61102033,61102033,G,C,R006_S,TKFC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TKFC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,85685872,85685872,T,C,R006_S,PICALM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PICALM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,87029301,87029301,G,C,R006_S,TMEM135,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM135,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,110477569,110477569,A,G,R006_S,ARHGAP20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119054255,119054255,G,C,R006_S,NLRX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NLRX1,NM_001282358:c.*107G>C;NM_024618:c.*107G>C;NM_001282143:c.*107G>C;NM_001282144:c.*107G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125648351,125648351,G,T,R006_S,PATE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,990178,990178,A,G,R006_S,WNK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46322655,46322655,A,T,R006_S,SCAF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49317754,49317754,C,A,R006_S,FKBP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FKBP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69128618,69128618,G,T,R006_S,NUP107,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP107,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,70735983,70735983,A,G,R006_S,CNOT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,82828364,82828364,C,A,R006_S,METTL25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,100994128,100994128,T,G,R006_S,GAS2L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAS2L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,103232926,103232926,C,A,R006_S,PAH,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PAH,NM_001354304:c.*27G>T;NM_000277:c.*27G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109210685,109210685,G,T,R006_S,SSH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123057878,123057878,T,C,R006_S,KNTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,126932715,126932715,C,G,R006_S,LINC02347,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02347;LINC02825,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132681613,132681613,G,A,R006_S,GALNT9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GALNT9,NM_021808:c.*39C>T;NM_001122636:c.*39C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133244292,133244292,C,A,R006_S,POLE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133244293,133244293,C,A,R006_S,POLE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21375167,21375167,T,C,R006_S,XPO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,26108297,26108297,G,A,R006_S,ATP8A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,26108389,26108389,A,G,R006_S,ATP8A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20917306,20917306,T,C,R006_S,OSGEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSGEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22476383,22476383,G,A,R006_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=337151;dist=371425,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23869256,23869256,A,G,R006_S,MYH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35579000,35579000,C,T,R006_S,LOC101927178,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927178,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73969522,73969522,A,G,R006_S,HEATR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91639523,91639523,A,G,R006_S,DGLUCY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGLUCY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42955995,42955995,T,C,R006_S,STARD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STARD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43639338,43639338,A,G,R006_S,ADAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69331406,69331406,C,A,R006_S,NOX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4787758,4787758,G,T,R006_S,C16orf71,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf71,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11073166,11073166,C,G,R006_S,CLEC16A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC16A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31004809,31004809,G,C,R006_S,STX1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STX1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56687020,56687020,T,C,R006_S,MT1B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MT1B,NM_005947:c.*43T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6722698,6722698,A,G,R006_S,TEKT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEKT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39553438,39553438,G,A,R006_S,KRT31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,53485044,53485044,G,C,R006_S,MMD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71434049,71434049,C,T,R006_S,SDK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,20951544,20951544,C,T,R006_S,TMEM241,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM241,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29177917,29177917,G,A,R006_S,TTR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,291280,291280,C,G,R006_S,PLPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3594762,3594762,T,C,R006_S,TBXA2R,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TBXA2R,NM_001060:c.*924A>G;NM_201636:c.*72A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4210395,4210395,G,A,R006_S,ANKRD24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6906357,6906357,C,T,R006_S,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10527794,10527794,C,G,R006_S,PDE4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14730428,14730428,A,G,R006_S,ADGRE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18328924,18328924,C,A,R006_S,PDE4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22171812,22171812,T,C,R006_S,ZNF208,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF208,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22487749,22487749,C,T,R006_S,ZNF729,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF729,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34712706,34712706,T,C,R006_S,LSM14A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSM14A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39232554,39232554,G,T,R006_S,CAPN12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41808436,41808436,C,G,R006_S,HNRNPUL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPUL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47774449,47774449,G,T,R006_S,CCDC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50123761,50123761,G,C,R006_S,PRR12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRR12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52660862,52660862,T,A,R006_S,ZNF836,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF836,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54625226,54625226,C,T,R006_S,PRPF31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58981875,58981875,G,C,R006_S,ZNF324,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF324,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31292312,31292312,A,G,R006_S,COMMD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMMD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43277529,43277529,C,A,R006_S,PRDM15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47878914,47878914,C,A,R006_S,DIP2A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DIP2A,NM_206890:c.-131C>A;NM_001353944:c.-131C>A;NM_206891:c.-131C>A;NM_015151:c.-131C>A;NM_001146115:c.-131C>A;NM_206889:c.-131C>A;NM_001353943:c.-131C>A;NM_001146116:c.-131C>A;NM_001353942:c.-131C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42793761,42793761,T,C,R006_S,NFAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44342031,44342031,C,G,R006_S,PNPLA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45913438,45913438,C,T,R006_S,FBLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24332053,24332053,G,A,R006_S,SUPT20HL2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SUPT20HL2,dist=543,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70602732,70602732,C,A,R006_S,TAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,14923444,14923444,C,A,R006_S,USP9Y,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP9Y,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2118730,2118730,T,C,R007_F,FAAP20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAAP20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16385838,16385838,C,A,R007_F,FAM131C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM131C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,112270480,112270480,C,T,R007_F,INKA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INKA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97638148,97638148,G,A,R007_F,FAM178B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM178B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98914363,98914363,C,A,R007_F,VWA3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,141283928,141283928,A,C,R007_F,LRP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153492918,153492918,G,C,R007_F,FMNL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179620870,179620870,G,T,R007_F,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,210993747,210993747,G,A,R007_F,KANSL1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANSL1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37144331,37144331,C,A,R007_F,LRRFIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49936126,49936126,G,T,R007_F,MST1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MST1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,71247569,71247569,G,A,R007_F,FOXP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,97439348,97439348,T,A,R007_F,EPHA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,107925405,107925405,T,C,R007_F,IFT57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,133909514,133909514,C,A,R007_F,JADE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JADE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,75804784,75804784,G,C,R007_F,COL12A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL12A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,169646229,169646229,C,A,R007_F,THBS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THBS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2311695,2311695,G,A,R007_F,SNX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23625604,23625604,G,A,R007_F,CLK2P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CLK2P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98452803,98452803,C,T,R007_F,TMEM130,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM130,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100345907,100345907,G,A,R007_F,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100855030,100855030,C,T,R007_F,PLOD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLOD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141875594,141875594,C,A,R007_F,MGAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150709631,150709631,G,T,R007_F,NOS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74659044,74659044,G,T,R007_F,STAU2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STAU2,NM_001164380:c.-37664C>A;NM_001164381:c.-8508C>A;NM_001164382:c.-73605C>A;NM_001164383:c.-129464C>A;NM_001164385:c.-57996C>A;NM_014393:c.-8508C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33662219,33662219,C,T,R007_F,ANXA2P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANXA2P2;PTENP1,dist=36687;dist=11283,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35616587,35616587,C,A,R007_F,CD72,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD72,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36162821,36162821,G,T,R007_F,GLIPR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GLIPR2,NM_001287010:c.*302G>T;NM_001287012:c.*396G>T;NM_022343:c.*302G>T;NM_001287011:c.*582G>T;NM_001287013:c.*302G>T;NM_001287014:c.*302G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95766263,95766263,G,T,R007_F,FGD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111674801,111674801,G,A,R007_F,ELP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130198283,130198283,G,T,R007_F,ZNF79,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZNF79,NM_001286696:exon4:c.256+1G>T;NM_001286697:exon5:c.256+1G>T;NM_001322260:exon5:c.256+1G>T;NM_007135:exon4:c.328+1G>T,NA,NA,.,.,D,.,.,.
chr9,140006496,140006496,G,T,R007_F,DPP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140262381,140262381,C,T,R007_F,EXD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140262497,140262497,G,A,R007_F,EXD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95372466,95372466,G,T,R007_F,PDE6C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PDE6C,NM_006204:c.-17G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105796122,105796122,C,A,R007_F,COL17A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL17A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124379808,124379808,G,T,R007_F,DMBT1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DMBT1,NM_007329:exon40:c.4897+1G>T;NM_017579:exon39:c.4867+1G>T;NM_004406:exon27:c.3013+1G>T;NM_001320644:exon40:c.4897+1G>T,NA,NA,.,.,N,.,.,.
chr11,830717,830717,A,G,R007_F,CRACR2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRACR2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2017642,2017642,G,A,R007_F,H19,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,H19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2194234,2194234,C,T,R007_F,MIR4686,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4686,dist=59,NA,NA,NA,NA,NA,NA,NA,NA
chr11,20409240,20409240,G,T,R007_F,PRMT3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PRMT3,NM_001145166:c.-53G>T;NM_001145167:c.-2117G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70336302,70336302,G,T,R007_F,SHANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8248533,8248533,G,C,R007_F,NECAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104350408,104350408,C,G,R007_F,C12orf73,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,C12orf73,NM_001135570:exon2:c.108+1G>C,NA,NA,T,.,D,.,N,T
chr12,110318216,110318216,G,C,R007_F,GLTP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GLTP,NM_016433:c.-37C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111158909,111158909,C,A,R007_F,PPP1CC,RNA,NA,NA,NA,NA,SNP,SNVindel,exonic,PPP1CC;PPP1CC,NM_001244974:exon7:c.943+1G>T,nonsynonymous SNV,PPP1CC:NM_002710:exon7:c.G944T:p.G315V,D,.,D,T,N,T
chr12,120067853,120067853,T,C,R007_F,TMEM233,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM233,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,26974735,26974735,G,T,R007_F,CDK8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,28519377,28519377,C,T,R007_F,PDX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PDX1;LINC00543,dist=18927;dist=8286,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92491774,92491774,A,T,R007_F,TRIP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106329407,106329407,C,A,R007_F,MIR4539,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4539;FAM30A,dist=2823;dist=54431,NA,NA,NA,NA,NA,NA,NA,NA
chr15,63336396,63336396,G,C,R007_F,TPM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPM1,NA,NA,NA,.,.,D,.,.,.
chr15,66257480,66257480,C,A,R007_F,MEGF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,67984750,67984750,G,C,R007_F,MAP2K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,700212,700212,C,T,R007_F,WDR90,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR90,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2126627,2126627,G,C,R007_F,TSC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,90095457,90095457,C,G,R007_F,GAS8-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GAS8-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7251844,7251844,C,T,R007_F,ACAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7318485,7318485,G,A,R007_F,NLGN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLGN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39739749,39739749,C,A,R007_F,KRT14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46878788,46878788,G,A,R007_F,TTLL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48746397,48746397,G,A,R007_F,ABCC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19119857,19119857,C,T,R007_F,ESCO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESCO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7605714,7605714,C,T,R007_F,PNPLA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7833939,7833939,C,T,R007_F,CLEC4M,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CLEC4M,NM_014257:c.*65C>T;NM_001144906:c.*65C>T;NM_001144907:c.*65C>T;NM_001144908:c.*177C>T;NM_001144909:c.*65C>T;NM_001144910:c.*65C>T;NM_001144911:c.*177C>T;NM_001144904:c.*65C>T;NM_001144905:c.*65C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13940975,13940975,G,T,R007_F,ZSWIM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54803882,54803882,A,G,R007_F,LILRA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56410344,56410344,G,A,R007_F,NLRP13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56539906,56539906,C,G,R007_F,NLRP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56696552,56696552,C,G,R007_F,GALP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2321233,2321233,G,A,R007_F,TGM3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TGM3,NM_003245:c.*6G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,17608417,17608417,G,A,R007_F,RRBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29633938,29633938,A,G,R007_F,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29633945,29633945,G,A,R007_F,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42908003,42908003,C,A,R007_F,GDAP1L1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GDAP1L1,NM_001256738:c.*63C>A;NM_001256737:c.*63C>A;NM_001256740:c.*63C>A;NM_001256739:c.*63C>A;NM_024034:c.*63C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11039302,11039302,A,G,R007_F,BAGE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BAGE2;BAGE3;BAGE4;BAGE5,NM_182482:c.*364T>C;NM_182481:c.*364T>C;NM_181704:c.*579T>C;NM_182484:c.*579T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11058330,11058330,G,A,R007_F,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11059821,11059821,T,C,R007_F,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23047225,23047225,C,T,R007_F,GGTLC2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGTLC2;MIR650,dist=56857;dist=118045,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39814855,39814855,G,T,R007_F,TAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,49667943,49667943,C,T,R007_F,LINC01310,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01310;NONE,dist=373745;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr1,905819,905819,G,A,R007_S,PLEKHN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1226107,1226107,G,A,R007_S,SCNN1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCNN1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1256246,1256246,C,T,R007_S,INTS11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1262235,1262235,G,A,R007_S,CPTP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CPTP,NM_001029885:c.-56G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1510670,1510670,C,T,R007_S,SSU72,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SSU72,dist=427,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1645753,1645753,C,T,R007_S,CDK11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11A;CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1738065,1738065,G,A,R007_S,GNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1846700,1846700,C,T,R007_S,CALML6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CALML6,NM_001330313:c.-20C>T;NM_138705:c.-20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1848076,1848076,G,A,R007_S,CALML6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALML6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1850295,1850295,C,T,R007_S,TMEM52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1920100,1920100,G,A,R007_S,CFAP74,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP74,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2100823,2100823,C,T,R007_S,PRKCZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2255590,2255590,G,A,R007_S,MORN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2264097,2264097,C,T,R007_S,MORN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2319574,2319574,C,T,R007_S,MORN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2342253,2342253,C,T,R007_S,PEX10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2446849,2446849,C,T,R007_S,PANK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PANK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2453262,2453262,G,A,R007_S,PANK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PANK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2489156,2489156,C,T,R007_S,TNFRSF14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2494376,2494376,C,T,R007_S,TNFRSF14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2519925,2519925,G,A,R007_S,PRXL2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRXL2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2521053,2521053,C,T,R007_S,PRXL2B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRXL2B,NM_001195737:c.*187C>T;NM_001195741:c.*187C>T;NM_001195736:c.*187C>T;NM_001195738:c.*200C>T;NM_152371:c.*187C>T;NM_001195740:c.*187C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2527978,2527978,G,A,R007_S,MMEL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3649762,3649762,G,A,R007_S,TP73,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TP73,NM_001204184:c.*436G>A;NM_005427:c.*119G>A;NM_001204185:c.*453G>A;NM_001204186:c.*436G>A;NM_001204187:c.*119G>A;NM_001204188:c.*119G>A;NM_001204190:c.*119G>A;NM_001204189:c.*436G>A;NM_001204191:c.*119G>A;NM_001126241:c.*436G>A;NM_001126240:c.*119G>A;NM_001126242:c.*453G>A;NM_001204192:c.*119G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3687964,3687964,G,A,R007_S,CCDC27,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CCDC27,NM_152492:exon12:c.1849-1G>A,NA,NA,.,.,D,.,.,.
chr1,6157507,6157507,C,T,R007_S,KCNAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6166258,6166258,G,A,R007_S,CHD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6206615,6206615,C,T,R007_S,CHD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6535210,6535210,G,A,R007_S,PLEKHG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6556789,6556789,G,A,R007_S,PLEKHG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6639688,6639688,G,A,R007_S,TAS1R1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TAS1R1,NM_138697:c.*44G>A;NM_177540:c.*44G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6694567,6694567,G,A,R007_S,DNAJC11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DNAJC11;THAP3,NM_018198:c.*1168C>T;NM_138350:c.*419G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6931842,6931842,G,A,R007_S,CAMTA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAMTA1,NM_001195563:c.*17G>A;NM_001349627:c.*17G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7568706,7568706,G,A,R007_S,CAMTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7903912,7903912,T,C,R007_S,PER3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PER3,NM_016831:c.*1097T>C;NM_001289864:c.*1097T>C;NM_001289863:c.*1097T>C;NM_001289862:c.*1097T>C;NM_001289861:c.*1097T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,8441113,8441113,C,T,R007_S,RERE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RERE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,8525812,8525812,C,T,R007_S,RERE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RERE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9097861,9097861,G,A,R007_S,SLC2A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9164747,9164747,C,T,R007_S,GPR157,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR157,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9416695,9416695,G,A,R007_S,SPSB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPSB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9627506,9627506,C,T,R007_S,SLC25A33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10093766,10093766,G,A,R007_S,UBE4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10431119,10431119,G,A,R007_S,KIF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11594325,11594325,C,T,R007_S,DISP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15702277,15702277,C,T,R007_S,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15723746,15723746,G,A,R007_S,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15788654,15788654,C,T,R007_S,CELA2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELA2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16302506,16302506,G,A,R007_S,ZBTB17,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZBTB17,NM_001287604:c.-28911C>T;NM_001324138:c.-27516C>T;NM_001324137:c.-28911C>T;NM_001242884:c.-28951C>T;NM_003443:c.-27516C>T;NM_001287603:c.-27516C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16372200,16372200,G,A,R007_S,CLCNKB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCNKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16525589,16525589,C,T,R007_S,ARHGEF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16529160,16529160,G,A,R007_S,ARHGEF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16717704,16717704,G,A,R007_S,SZRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SZRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16748491,16748491,G,A,R007_S,SPATA21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16754438,16754438,C,T,R007_S,SPATA21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA21,NA,NA,NA,T,.,N,.,D,T
chr1,17267402,17267402,C,T,R007_S,CROCC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CROCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17272747,17272747,C,T,R007_S,CROCC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CROCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17312450,17312450,A,T,R007_S,ATP13A2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,ATP13A2,dist=3,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17312453,17312453,G,A,R007_S,ATP13A2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ATP13A2,NM_001141974:c.*27C>T;NM_022089:c.*263C>T;NM_001141973:c.*263C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17326888,17326888,C,T,R007_S,ATP13A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17330804,17330804,G,A,R007_S,ATP13A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17592305,17592305,C,T,R007_S,PADI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PADI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17603178,17603178,C,A,R007_S,PADI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PADI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17682430,17682430,C,T,R007_S,PADI4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PADI4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17930002,17930002,G,A,R007_S,ARHGEF10L,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ARHGEF10L,NM_018125:exon6:c.350-1G>A;NM_001011722:exon5:c.350-1G>A;NM_001319837:exon5:c.350-1G>A,NA,NA,.,.,D,.,.,.
chr1,19071447,19071447,G,A,R007_S,PAX7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PAX7,NM_001135254:c.*24G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19246067,19246067,G,A,R007_S,IFFO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFFO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19408221,19408221,C,T,R007_S,UBR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR4,NA,NA,NA,D,.,N,T,N,T
chr1,19446670,19446670,C,T,R007_S,UBR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19464493,19464493,G,A,R007_S,UBR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19671782,19671782,C,T,R007_S,CAPZB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPZB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19983654,19983654,C,T,R007_S,MICOS10-NBL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MICOS10-NBL1;NBL1,NM_001204089:c.*32C>T;NM_001204088:c.*32C>T;NM_001278164:c.*32C>T;NM_182744:c.*32C>T;NM_001278165:c.*32C>T;NM_001204084:c.*32C>T;NM_005380:c.*32C>T;NM_001204085:c.*32C>T;NM_001204086:c.*32C>T;NM_001278166:c.*32C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20441888,20441888,G,A,R007_S,PLA2G2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20970901,20970901,G,A,R007_S,PINK1-AS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PINK1-AS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21014456,21014456,C,T,R007_S,KIF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21042152,21042152,G,A,R007_S,KIF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21043939,21043939,C,T,R007_S,KIF17,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KIF17,NM_001287212:c.-1876G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21887836,21887836,G,A,R007_S,ALPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22142579,22142579,G,A,R007_S,LDLRAD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDLRAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22156449,22156449,C,T,R007_S,HSPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22174393,22174393,G,A,R007_S,HSPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPG2,NA,NA,NA,D,.,N,T,N,T
chr1,22924557,22924557,C,T,R007_S,EPHA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23696010,23696010,G,A,R007_S,ZNF436-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ZNF436-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23848238,23848238,C,T,R007_S,E2F2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,E2F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23954175,23954175,C,T,R007_S,MDS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23965573,23965573,G,A,R007_S,MDS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24684821,24684821,G,A,R007_S,STPG1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STPG1,NM_001199014:c.*212C>T;NM_178122:c.*212C>T;NM_001199012:c.*212C>T;NM_001199013:c.*212C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26878027,26878027,G,A,R007_S,RPS6KA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26887740,26887740,G,A,R007_S,RPS6KA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27056094,27056094,C,T,R007_S,ARID1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28148928,28148928,G,A,R007_S,STX12,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STX12,NM_177424:c.*88G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28559362,28559362,C,T,R007_S,DNAJC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31424995,31424995,G,A,R007_S,PUM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32265475,32265475,G,A,R007_S,SPOCD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPOCD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32508348,32508348,G,A,R007_S,KHDRBS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KHDRBS1,NM_001271878:c.*123G>A;NM_006559:c.*123G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32650053,32650053,C,T,R007_S,TXLNA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXLNA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32797414,32797414,C,T,R007_S,HDAC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33241563,33241563,G,A,R007_S,YARS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,YARS,NM_003680:c.*19C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33557872,33557872,C,T,R007_S,AZIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AZIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33560124,33560124,G,A,R007_S,AZIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AZIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33583726,33583726,G,A,R007_S,AZIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AZIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33612707,33612707,C,T,R007_S,TRIM62,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRIM62,NM_018207:c.*71G>A;NM_001330483:c.*71G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33764718,33764718,C,T,R007_S,ZNF362,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF362,NM_152493:c.*71C>T;NM_001370212:c.*71C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35183971,35183971,G,A,R007_S,MIR552,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR552;GJB5,dist=48676;dist=36677,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36809050,36809050,C,T,R007_S,STK40,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,STK40,NM_001282547:exon10:c.1005-1G>A;NM_032017:exon11:c.1005-1G>A;NM_001282546:exon10:c.1020-1G>A,NA,NA,.,.,D,.,.,.
chr1,36939356,36939356,C,T,R007_S,CSF3R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSF3R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,37941549,37941549,C,T,R007_S,ZC3H12A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H12A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,37948160,37948160,C,T,R007_S,ZC3H12A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H12A,NA,NA,NA,.,.,N,.,.,.
chr1,38095445,38095445,C,T,R007_S,RSPO1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RSPO1,NM_001038633:c.-112G>A;NM_001242910:c.-112G>A;NM_001242908:c.-112G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38161706,38161706,G,A,R007_S,CDCA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDCA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38304290,38304290,G,A,R007_S,MTF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38464889,38464889,G,A,R007_S,FHL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39790544,39790544,G,A,R007_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39797273,39797273,C,T,R007_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39797707,39797707,C,T,R007_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,D,N,D,T,N,T
chr1,39799176,39799176,C,T,R007_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,D,N,D,T,N,T
chr1,39800833,39800833,C,T,R007_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,D,N,N,T,N,T
chr1,39802899,39802899,G,A,R007_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,T,N,D,T,N,T
chr1,39838115,39838115,C,T,R007_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39888030,39888030,G,A,R007_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39913080,39913080,G,A,R007_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40137498,40137498,C,T,R007_S,NT5C1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5C1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40137575,40137575,C,T,R007_S,NT5C1A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NT5C1A,NM_032526:exon1:c.135+1G>A,NA,NA,.,.,D,.,.,.
chr1,40204648,40204648,C,A,R007_S,PPIE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40777720,40777720,C,T,R007_S,COL9A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40840298,40840298,A,T,R007_S,SMAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41007250,41007250,C,T,R007_S,ZNF684,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF684,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41300599,41300599,C,T,R007_S,KCNQ4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43076786,43076786,G,A,R007_S,CCDC30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43126694,43126694,G,A,R007_S,PPIH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43241157,43241157,G,A,R007_S,C1orf50,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C1orf50,NM_024097:c.*92G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43664937,43664937,C,T,R007_S,CFAP57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43748825,43748825,C,T,R007_S,C1orf210,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf210,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43812364,43812364,C,T,R007_S,MPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43818056,43818056,G,A,R007_S,MPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43892667,43892667,G,A,R007_S,SZT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SZT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43907063,43907063,G,A,R007_S,SZT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SZT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44069044,44069044,C,T,R007_S,PTPRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44069072,44069072,C,T,R007_S,PTPRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44075033,44075033,G,A,R007_S,PTPRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44075038,44075038,C,T,R007_S,PTPRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44083278,44083278,C,T,R007_S,PTPRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44435793,44435793,C,T,R007_S,DPH2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DPH2,NM_001384:c.-55C>T;NM_001039589:c.-55C>T;NM_001319171:c.-1060C>T;NM_001319166:c.-55C>T;NM_001319170:c.-1361C>T;NM_001319167:c.-1361C>T;NM_001319169:c.-509C>T;NM_001319168:c.-556C>T;NM_001319165:c.-556C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44436229,44436229,G,A,R007_S,DPH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44437756,44437756,G,A,R007_S,DPH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44467380,44467380,G,A,R007_S,SLC6A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44482957,44482957,G,A,R007_S,SLC6A9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC6A9,NM_001328627:c.-115C>T;NM_001328628:c.-115C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44684154,44684154,G,A,R007_S,DMAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44686304,44686304,G,A,R007_S,DMAP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DMAP1,NM_001034023:c.*14G>A;NM_019100:c.*14G>A;NM_001034024:c.*14G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45189756,45189756,G,A,R007_S,ARMH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45275880,45275880,C,T,R007_S,BTBD19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTBD19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45308657,45308657,C,T,R007_S,PTCH2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTCH2,NM_003738:c.-53G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45475529,45475529,G,A,R007_S,HECTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45516982,45516982,C,T,R007_S,ZSWIM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45798062,45798062,C,T,R007_S,MUTYH,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MUTYH,NM_001128425:exon9:c.788+1G>A;NM_001293192:exon9:c.428+1G>A;NM_001293191:exon9:c.737+1G>A;NM_001293195:exon10:c.704+1G>A;NM_001048174:exon9:c.704+1G>A;NM_012222:exon9:c.779+1G>A;NM_001350651:exon8:c.359+1G>A;NM_001048173:exon9:c.704+1G>A;NM_001350650:exon8:c.359+1G>A;NM_001293196:exon9:c.428+1G>A;NM_001293190:exon9:c.749+1G>A;NM_001048172:exon9:c.707+1G>A;NM_001048171:exon9:c.746+1G>A,NA,NA,.,.,D,.,.,.
chr1,45798429,45798429,C,T,R007_S,MUTYH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUTYH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45962136,45962136,G,A,R007_S,CCDC163,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC163,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46086830,46086830,C,T,R007_S,CCDC17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46156654,46156654,C,T,R007_S,TMEM69,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TMEM69,NM_016486:c.-87C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46497324,46497324,G,A,R007_S,MAST2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAST2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46650795,46650795,C,T,R007_S,TSPAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47028543,47028543,G,A,R007_S,MKNK1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MKNK1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47279803,47279803,C,T,R007_S,CYP4B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47650780,47650780,G,A,R007_S,PDZK1IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDZK1IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,48917325,48917325,C,T,R007_S,SPATA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,49052505,49052505,G,A,R007_S,AGBL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGBL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,49100350,49100350,G,A,R007_S,AGBL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGBL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51436033,51436033,C,T,R007_S,CDKN2C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CDKN2C,NM_001262:c.-8C>T;NM_078626:c.-8C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52880396,52880396,C,T,R007_S,PRPF38A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF38A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53308663,53308663,G,A,R007_S,ZYG11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZYG11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53364757,53364757,C,T,R007_S,ECHDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECHDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53372105,53372105,C,T,R007_S,ECHDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECHDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53440372,53440372,C,T,R007_S,SCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54371759,54371759,C,T,R007_S,DIO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54562230,54562230,G,A,R007_S,TCEANC2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TCEANC2,NM_153035:c.*84G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54562244,54562244,G,A,R007_S,TCEANC2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TCEANC2,NM_153035:c.*98G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55050550,55050550,C,T,R007_S,ACOT11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOT11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55203099,55203099,G,A,R007_S,MROH7-TTC4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MROH7-TTC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55253383,55253383,C,T,R007_S,TTC22,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TTC22,NM_001114108:exon3:c.739+1G>A;NM_017904:exon3:c.739+1G>A,NA,NA,.,.,D,.,.,.
chr1,55337377,55337377,C,T,R007_S,DHCR24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHCR24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55470616,55470616,G,A,R007_S,BSND,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BSND,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,59364665,59364665,G,A,R007_S,LINC01135,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01135,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,60287638,60287638,C,T,R007_S,HOOK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62582104,62582104,G,A,R007_S,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62747419,62747419,C,T,R007_S,KANK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,63001119,63001119,C,T,R007_S,DOCK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,64104529,64104529,G,A,R007_S,PGM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,64125387,64125387,C,T,R007_S,PGM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PGM1,NM_002633:c.*41C>T;NM_001172819:c.*41C>T;NM_001172818:c.*41C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67160968,67160968,G,A,R007_S,SGIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67313111,67313111,G,A,R007_S,WDR78,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67793855,67793855,G,A,R007_S,IL12RB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL12RB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70650411,70650411,C,T,R007_S,LRRC40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70887237,70887237,C,T,R007_S,CTH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,71530675,71530675,C,T,R007_S,ZRANB2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZRANB2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,72740624,72740624,C,T,R007_S,NEGR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEGR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,74664196,74664196,G,A,R007_S,FPGT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FPGT;FPGT-TNNI3K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,77334083,77334083,C,T,R007_S,ST6GALNAC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST6GALNAC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78578062,78578062,C,T,R007_S,GIPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,87352805,87352805,C,T,R007_S,SELENOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SELENOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,87530185,87530185,C,A,R007_S,HS2ST1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HS2ST1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89575614,89575614,C,T,R007_S,GBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89587656,89587656,G,A,R007_S,GBP2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GBP2,NM_004120:c.-7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89728675,89728675,C,T,R007_S,GBP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94344779,94344779,G,A,R007_S,DNTTIP2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DNTTIP2,dist=17,NA,NA,NA,NA,NA,NA,NA,NA
chr1,95005812,95005812,C,T,R007_S,F3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,F3,NM_001993:exon2:c.212+1G>A;NM_001178096:exon2:c.212+1G>A,NA,NA,.,.,D,.,.,.
chr1,97839237,97839237,G,A,R007_S,DPYD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPYD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100133335,100133335,C,T,R007_S,MIR548N,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR548N,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,101362048,101362048,C,T,R007_S,SLC30A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC30A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109642881,109642881,G,A,R007_S,SCARNA2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SCARNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109780566,109780566,G,A,R007_S,SARS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SARS,NM_001330669:c.*56G>A;NM_006513:c.*56G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109806418,109806418,G,A,R007_S,CELSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109814406,109814406,G,A,R007_S,CELSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109912219,109912219,G,A,R007_S,SORT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110164020,110164020,G,A,R007_S,AMPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPD2,NA,NA,NA,T,.,N,.,N,T
chr1,110170236,110170236,C,T,R007_S,AMPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110173098,110173098,G,A,R007_S,AMPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110230771,110230771,C,T,R007_S,GSTM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110294606,110294606,C,T,R007_S,EPS8L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110452945,110452945,C,T,R007_S,CSF1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CSF1,dist=526,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110584488,110584488,G,A,R007_S,STRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110585897,110585897,G,A,R007_S,STRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110589412,110589412,G,A,R007_S,STRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110592897,110592897,G,A,R007_S,STRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,111785000,111785000,G,A,R007_S,CHI3L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHI3L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,112042504,112042504,C,A,R007_S,ADORA3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADORA3,NM_001302679:c.*68G>T;NM_000677:c.*68G>T;NM_001302678:c.*717G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,112281949,112281949,C,T,R007_S,INKA2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,INKA2,NM_019099:c.-85G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113160694,113160694,C,T,R007_S,ST7L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST7L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113232404,113232404,G,A,R007_S,MOV10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOV10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113240865,113240865,G,A,R007_S,MOV10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOV10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113248208,113248208,C,T,R007_S,RHOC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113248326,113248326,C,T,R007_S,RHOC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113253272,113253272,G,A,R007_S,PPM1J,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPM1J,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113253717,113253717,G,A,R007_S,PPM1J,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPM1J,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114226695,114226695,C,T,R007_S,MAGI3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAGI3,NM_152900:c.*1812C>T;NM_001142782:c.*59C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114399099,114399099,G,A,R007_S,AP4B1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,AP4B1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115828642,115828642,G,A,R007_S,NGF-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NGF-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,116667071,116667071,C,T,R007_S,MAB21L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAB21L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,117248646,117248646,C,T,R007_S,C1orf137,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C1orf137,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,117628951,117628951,G,A,R007_S,TTF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120269606,120269606,C,T,R007_S,PHGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120378596,120378596,G,A,R007_S,NBPF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144866587,144866587,C,T,R007_S,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144890975,144890975,C,T,R007_S,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145109685,145109685,G,A,R007_S,SEC22B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SEC22B,NM_004892:exon3:c.346+1G>A,NA,NA,.,.,.,.,.,.
chr1,145301895,145301895,G,A,R007_S,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145457105,145457105,C,T,R007_S,POLR3GL,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,POLR3GL,NM_001330685:exon6:c.388-1G>A;NM_032305:exon7:c.457-1G>A,NA,NA,.,.,.,.,.,.
chr1,147084660,147084660,C,T,R007_S,BCL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL9;NBPF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,147127261,147127261,C,T,R007_S,ACP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACP6;NBPF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,147131696,147131696,C,T,R007_S,ACP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACP6;NBPF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,149907330,149907330,G,A,R007_S,MTMR11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150208325,150208325,C,T,R007_S,ANP32E,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ANP32E,NM_001280559:c.-191G>A;NM_001136478:c.-191G>A;NM_001280560:c.-191G>A;NM_030920:c.-191G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150233695,150233695,C,T,R007_S,CA14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150245160,150245160,G,A,R007_S,C1orf54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150318825,150318825,G,A,R007_S,PRPF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150532759,150532759,C,T,R007_S,ADAMTSL4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADAMTSL4,NM_019032:c.*87C>T;NM_001288608:c.*87C>T;NM_001288607:c.*87C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150804805,150804805,C,T,R007_S,ARNT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150833657,150833657,G,A,R007_S,ARNT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150939792,150939792,G,A,R007_S,CERS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150939989,150939989,C,T,R007_S,CERS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150941664,150941664,G,A,R007_S,CERS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150955750,150955750,G,A,R007_S,ANXA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151015940,151015940,G,A,R007_S,BNIPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151018688,151018688,G,A,R007_S,BNIPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151108325,151108325,G,A,R007_S,SEMA6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151131801,151131801,C,T,R007_S,TNFAIP8L2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNFAIP8L2,NM_024575:c.*73C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151171458,151171458,G,A,R007_S,PIP5K1A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PIP5K1A,NM_001135638:c.-15G>A;NM_001135637:c.-15G>A;NM_001330689:c.-15G>A;NM_003557:c.-15G>A;NM_001135636:c.-15G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151547553,151547553,C,T,R007_S,TUFT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151553311,151553311,G,A,R007_S,TUFT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151553386,151553386,G,A,R007_S,TUFT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151752321,151752321,C,T,R007_S,TDRKH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRKH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151804073,151804073,G,A,R007_S,RORC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RORC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,152659666,152659666,G,A,R007_S,LCE2B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LCE2B,NM_014357:c.*14G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153658527,153658527,G,A,R007_S,NPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153745065,153745065,C,T,R007_S,INTS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153747692,153747692,G,A,R007_S,SLC27A3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SLC27A3;INTS3,dist=191;dist=408,NA,NA,T,.,N,T,N,T
chr1,153927645,153927645,G,A,R007_S,CRTC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRTC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154164504,154164504,C,T,R007_S,TPM3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TPM3,NM_001364679:c.-10G>A;NM_001364680:c.-10G>A;NM_001364681:c.-10G>A;NM_152263:c.-10G>A;NM_001364682:c.-10G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154318366,154318366,G,A,R007_S,ATP8B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154600495,154600495,G,A,R007_S,ADAR,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ADAR,dist=22,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154983507,154983507,C,T,R007_S,ZBTB7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154990937,154990937,C,T,R007_S,ZBTB7B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB7B,NM_001252406:c.*1776C>T;NM_001256455:c.*1776C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155147110,155147110,G,A,R007_S,TRIM46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM46,NA,NA,NA,.,.,D,.,.,T
chr1,155206352,155206352,G,A,R007_S,GBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155207833,155207833,C,T,R007_S,GBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155217840,155217840,C,T,R007_S,FAM189B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FAM189B,NM_198264:exon8:c.1545+1G>A;NM_001267608:exon10:c.1779+1G>A;NM_006589:exon11:c.1833+1G>A,NA,NA,.,.,D,.,.,.
chr1,155227251,155227251,C,T,R007_S,SCAMP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAMP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155560539,155560539,G,A,R007_S,ASH1L-AS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ASH1L-AS1;MSTO1,dist=26804;dist=19422,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155697361,155697361,C,T,R007_S,DAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155697368,155697368,G,C,R007_S,DAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155753902,155753902,G,A,R007_S,GON4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GON4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156106640,156106640,G,A,R007_S,LMNA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMNA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156128156,156128156,C,T,R007_S,SEMA4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156215809,156215809,G,A,R007_S,PAQR6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PAQR6,NM_001272107:c.-170C>T;NM_001272106:c.-372C>T;NM_001272109:c.-1165C>T;NM_024897:c.-170C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156280586,156280586,G,A,R007_S,CCT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156513917,156513917,G,A,R007_S,IQGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156594110,156594110,C,T,R007_S,HAPLN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAPLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156629067,156629067,G,A,R007_S,BCAN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BCAN,NM_021948:c.*141G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156837797,156837797,C,T,R007_S,NTRK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTRK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156874735,156874735,G,A,R007_S,PEAR1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PEAR1,NM_001353682:c.-42G>A;NM_001353683:c.-42G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156879927,156879927,C,T,R007_S,PEAR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEAR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156897654,156897654,G,A,R007_S,LRRC71,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC71,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156917349,156917349,C,A,R007_S,ARHGEF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157069184,157069184,G,A,R007_S,ETV3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158369292,158369292,G,A,R007_S,OR10T2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OR10T2,dist=36,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159249362,159249362,G,A,R007_S,ACKR1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ACKR1;FCER1A,dist=73072;dist=10142,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159277772,159277772,C,T,R007_S,FCER1A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FCER1A,NM_002001:c.*50C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159778739,159778739,G,A,R007_S,FCRL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159869965,159869965,C,T,R007_S,CFAP45,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CFAP45;MIR4259,dist=10,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159889941,159889941,C,T,R007_S,TAGLN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAGLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159901136,159901136,C,T,R007_S,IGSF9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160121809,160121809,G,A,R007_S,ATP1A4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATP1A4,NM_144699:c.-22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160247731,160247731,C,T,R007_S,PEX19,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PEX19,NM_001193644:c.*1618G>A;NM_002857:c.*1610G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160282966,160282966,G,A,R007_S,COPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160314504,160314504,C,T,R007_S,NCSTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCSTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160589509,160589509,G,A,R007_S,SLAMF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLAMF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161009666,161009666,G,A,R007_S,USF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,USF1,NM_001276373:c.*44C>T;NM_007122:c.*44C>T;NM_207005:c.*44C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161131135,161131135,C,T,R007_S,USP21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161131938,161131938,C,T,R007_S,USP21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161207758,161207758,G,A,R007_S,NR1I3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR1I3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,162689017,162689017,G,A,R007_S,DDR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,165380092,165380092,G,A,R007_S,RXRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RXRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,165533093,165533093,C,T,R007_S,LRRC52-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LRRC52-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167023802,167023802,C,T,R007_S,GPA33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPA33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167339475,167339475,G,A,R007_S,POU2F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POU2F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168269637,168269637,G,A,R007_S,TBX19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,171168648,171168648,C,T,R007_S,FMO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,171561021,171561021,G,A,R007_S,PRRC2C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRRC2C,NM_015172:c.*35G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,172634729,172634729,C,T,R007_S,FASLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FASLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173639100,173639100,G,A,R007_S,ANKRD45,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ANKRD45,dist=110,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173725056,173725056,C,T,R007_S,KLHL20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173743428,173743428,G,A,R007_S,KLHL20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173799911,173799911,C,T,R007_S,DARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176851934,176851934,C,T,R007_S,ASTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176857190,176857190,G,A,R007_S,ASTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,178483107,178483107,C,T,R007_S,TEX35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179054682,179054682,C,T,R007_S,TOR3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOR3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179632627,179632627,G,A,R007_S,TDRD5,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TDRD5,NM_001349923:exon15:c.2487+1G>A;NM_001199091:exon15:c.2487+1G>A;NM_001199089:exon16:c.2649+1G>A;NM_173533:exon15:c.2487+1G>A;NM_001199085:exon16:c.2649+1G>A;NM_001199092:exon12:c.1152+1G>A,NA,NA,.,.,D,.,.,.
chr1,179883132,179883132,G,A,R007_S,TOR1AIP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TOR1AIP1,NM_015602:exon9:c.908-1G>A;NM_001267578:exon9:c.911-1G>A,NA,NA,.,.,D,.,.,.
chr1,180166402,180166402,G,A,R007_S,QSOX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,QSOX1,NM_002826:c.*230G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181021264,181021264,G,A,R007_S,MR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181700263,181700263,G,A,R007_S,CACNA1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181726968,181726968,C,T,R007_S,CACNA1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181768078,181768078,G,A,R007_S,CACNA1E,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CACNA1E,NM_001205294:c.*108G>A;NM_000721:c.*108G>A;NM_001205293:c.*108G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182027204,182027204,G,A,R007_S,ZNF648,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF648,NM_001009992:c.-59C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182443740,182443740,C,T,R007_S,RGSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182571090,182571090,G,A,R007_S,RGS16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183190170,183190170,C,T,R007_S,LAMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186957659,186957659,C,T,R007_S,PLA2G4A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLA2G4A,NM_024420:c.*19C>T;NM_001311193:c.*19C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200013105,200013105,G,A,R007_S,NR5A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR5A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200586739,200586739,C,T,R007_S,KIF14,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KIF14,NM_001305792:exon1:UTR5;NM_014875:exon2:c.1112+1G>A,NA,NA,.,.,D,.,.,.
chr1,200587892,200587892,C,T,R007_S,KIF14,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KIF14,NM_001305792:c.-9854G>A;NM_014875:c.-41G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200942873,200942873,C,T,R007_S,KIF21B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KIF21B,NM_001252100:c.*350G>A;NM_017596:c.*350G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200956384,200956384,G,A,R007_S,KIF21B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF21B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200961379,200961379,G,A,R007_S,KIF21B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF21B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201289342,201289342,C,T,R007_S,PKP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201328720,201328720,G,A,R007_S,TNNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201333532,201333532,G,A,R007_S,TNNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201750093,201750093,C,T,R007_S,IPO9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,IPO9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201782472,201782472,G,A,R007_S,IPO9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,IPO9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201789094,201789094,G,A,R007_S,IPO9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,IPO9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202152981,202152981,G,A,R007_S,PTPRVP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PTPRVP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202710866,202710866,C,A,R007_S,KDM5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202777897,202777897,G,A,R007_S,KDM5B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KDM5B,NM_006618:c.-464C>T;NM_001347591:c.-464C>T;NM_001314042:c.-464C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202976707,202976707,G,A,R007_S,TMEM183A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM183A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,203028256,203028256,G,A,R007_S,PPFIA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204507326,204507326,C,T,R007_S,MDM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204948288,204948288,G,A,R007_S,NFASC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFASC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205085033,205085033,G,A,R007_S,RBBP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205417475,205417475,G,A,R007_S,MIR135B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR135B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205498742,205498742,C,T,R007_S,CDK18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205884379,205884379,G,A,R007_S,SLC26A9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC26A9,NM_052934:c.*106C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206243577,206243577,C,T,R007_S,RHEX,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RHEX,NM_001007544:c.-75G>A;NM_001369490:c.-75G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206243626,206243626,C,T,R007_S,RHEX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHEX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206331317,206331317,C,T,R007_S,CTSE,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CTSE,NM_148964:c.*89C>T;NM_001910:c.*132C>T;NM_001317331:c.*89C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206515363,206515363,G,A,R007_S,SRGAP2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SRGAP2,dist=837,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206653739,206653739,G,A,R007_S,IKBKE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IKBKE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206669482,206669482,C,T,R007_S,IKBKE,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IKBKE,NM_001193321:c.*4C>T;NM_001193322:c.*68C>T;NM_014002:c.*4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207095220,207095220,G,A,R007_S,FCMR,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FCMR,NM_001142473:c.-21C>T;NM_001193338:c.-21C>T;NM_005449:c.-21C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207140486,207140486,G,A,R007_S,FCAMR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCAMR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207930577,207930577,G,A,R007_S,CD46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207975130,207975130,C,T,R007_S,MIR29B2CHG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR29B2CHG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,208200758,208200758,C,T,R007_S,PLXNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,209811330,209811330,G,A,R007_S,LAMB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,209946379,209946379,G,A,R007_S,TRAF3IP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAF3IP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,209963165,209963165,G,A,R007_S,IRF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,210015889,210015889,G,A,R007_S,UTP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,211534007,211534007,G,A,R007_S,TRAF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,211956508,211956508,C,T,R007_S,LPGAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPGAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,212550867,212550867,G,A,R007_S,PACC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,212584007,212584007,G,A,R007_S,PACC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,213125177,213125177,G,A,R007_S,VASH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VASH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,214576371,214576371,C,T,R007_S,PTPN14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,214625330,214625330,G,A,R007_S,PTPN14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,214637948,214637948,G,A,R007_S,PTPN14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,218458848,218458848,G,A,R007_S,RRP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220324893,220324893,G,A,R007_S,RAB3GAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3GAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223536921,223536921,C,T,R007_S,SUSD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUSD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224444792,224444792,G,A,R007_S,MIR320B2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR320B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224488226,224488226,G,A,R007_S,NVL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NVL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224566682,224566682,G,A,R007_S,CNIH4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CNIH4,NM_001277199:c.*3158G>A;NM_001277197:c.*3158G>A;NM_001277198:c.*3186G>A;NM_014184:c.*3158G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225438317,225438317,G,A,R007_S,DNAH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226125091,226125091,C,T,R007_S,LEFTY2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LEFTY2,NM_001172425:c.*50G>A;NM_003240:c.*50G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228431277,228431277,G,A,R007_S,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228461778,228461778,G,A,R007_S,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228556024,228556024,G,A,R007_S,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228785932,228785932,G,A,R007_S,DUSP5P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DUSP5P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229463124,229463124,G,A,R007_S,CCSAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCSAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229601358,229601358,G,A,R007_S,NUP133,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP133,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230778351,230778351,G,A,R007_S,COG2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,COG2,NM_001145036:c.-2G>A;NM_007357:c.-2G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,231335706,231335706,C,T,R007_S,TRIM67,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM67,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,231377100,231377100,C,T,R007_S,GNPAT,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GNPAT,NM_014236:c.-25C>T;NM_001316350:c.-25C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235285765,235285765,G,A,R007_S,TOMM20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOMM20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236145173,236145173,G,A,R007_S,NID1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NID1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237013875,237013875,G,A,R007_S,MTR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,238049000,238049000,C,T,R007_S,LOC100130331,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100130331,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,240372137,240372137,C,T,R007_S,FMN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,241729751,241729751,G,A,R007_S,KMO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,242016794,242016794,G,A,R007_S,EXO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,246940141,246940141,G,A,R007_S,SCCPDH,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SCCPDH;LINC01341,dist=8702;dist=12778,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247463795,247463795,G,A,R007_S,ZNF496,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF496,NM_032752:c.*26C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247751647,247751647,G,A,R007_S,OR2G2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OR2G2,dist=15,NA,NA,NA,NA,NA,NA,NA,NA
chr1,248153900,248153900,G,A,R007_S,OR2L1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR2L1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,280015,280015,C,T,R007_S,ALKAL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ALKAL2,NM_001002919:c.*132G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3727604,3727604,C,T,R007_S,ALLC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALLC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,8870768,8870768,G,A,R007_S,KIDINS220,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KIDINS220,NM_001348732:c.*82C>T;NM_001348731:c.*82C>T;NM_001348736:c.*82C>T;NM_001348735:c.*82C>T;NM_020738:c.*82C>T;NM_001348734:c.*82C>T;NM_001348729:c.*82C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10224019,10224019,C,T,R007_S,CYS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CYS1;RRM2,dist=3481;dist=38676,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10224047,10224047,C,T,R007_S,CYS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CYS1;RRM2,dist=3509;dist=38648,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10563087,10563087,G,A,R007_S,HPCAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPCAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10918683,10918683,C,T,R007_S,ATP6V1C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,15701439,15701439,G,A,R007_S,NBAS,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NBAS,NM_015909:c.-11C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,16769448,16769448,G,A,R007_S,FAM49A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM49A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,18768469,18768469,C,T,R007_S,NT5C1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5C1B;NT5C1B-RDH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,18770807,18770807,C,T,R007_S,NT5C1B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NT5C1B;NT5C1B-RDH14,NM_001002006:c.-73G>A;NM_001199086:c.-73G>A;NM_001199087:c.-73G>A;NM_033253:c.-73G>A;NM_001199088:c.-73G>A;NM_001199104:c.-73G>A;NM_001199103:c.-73G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,19548226,19548226,C,T,R007_S,MIR4757,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4757,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20189889,20189889,C,T,R007_S,LOC101928222,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LOC101928222;WDR35,dist=76,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20240651,20240651,C,T,R007_S,LAPTM4A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LAPTM4A,NM_014713:exon2:c.232+1G>A,NA,NA,.,.,D,.,.,.
chr2,20251111,20251111,C,T,R007_S,LAPTM4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAPTM4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20483040,20483040,G,A,R007_S,PUM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,23746971,23746971,G,A,R007_S,KLHL29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,23988318,23988318,C,T,R007_S,ATAD2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATAD2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,25374767,25374767,G,A,R007_S,EFR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,25463672,25463672,C,T,R007_S,DNMT3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNMT3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,25650594,25650594,C,T,R007_S,DTNB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,25674402,25674402,C,T,R007_S,DTNB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26174778,26174778,G,A,R007_S,KIF3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26540779,26540779,G,A,R007_S,ADGRF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26697062,26697062,G,A,R007_S,OTOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26700203,26700203,C,T,R007_S,OTOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26863436,26863436,C,T,R007_S,CIB4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CIB4,NM_001029881:exon2:c.55-1G>A,NA,NA,.,.,D,.,.,.
chr2,26950491,26950491,C,T,R007_S,KCNK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27015209,27015209,G,A,R007_S,CENPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27248697,27248697,G,A,R007_S,MAPRE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPRE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27249294,27249294,C,T,R007_S,MAPRE3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAPRE3,NM_012326:c.*78C>T;NM_001303050:c.*78C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27327506,27327506,C,T,R007_S,CGREF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CGREF1,NA,NA,NA,D,.,N,D,N,T
chr2,27447207,27447207,C,T,R007_S,CAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27449250,27449250,G,A,R007_S,CAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27498011,27498011,C,T,R007_S,SLC30A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC30A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27499747,27499747,C,T,R007_S,DNAJC5G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC5G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27656782,27656782,G,A,R007_S,NRBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27680945,27680945,C,T,R007_S,IFT172,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT172,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27706723,27706723,C,T,R007_S,IFT172,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT172,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27708135,27708135,C,T,R007_S,IFT172,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT172,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27717547,27717547,C,T,R007_S,FNDC4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FNDC4,NM_022823:c.-1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27724562,27724562,C,T,R007_S,GCKR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCKR,NA,NA,NA,D,.,N,T,N,T
chr2,27730964,27730964,G,A,R007_S,GCKR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCKR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27873148,27873148,C,T,R007_S,GPN1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPN1,NM_001145047:c.*81C>T;NM_001145048:c.*81C>T;NM_001145049:c.*81C>T;NM_007266:c.*81C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,28550376,28550376,G,A,R007_S,BABAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BABAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,28786025,28786025,C,T,R007_S,PLB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,28849237,28849237,G,A,R007_S,PLB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,29245007,29245007,C,T,R007_S,TOGARAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOGARAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,30968001,30968001,G,A,R007_S,CAPN13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31369621,31369621,C,T,R007_S,GALNT14,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GALNT14;CAPN14,dist=8315;dist=26301,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31415081,31415081,C,T,R007_S,CAPN14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31415108,31415108,C,T,R007_S,CAPN14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31596928,31596928,C,T,R007_S,XDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32482021,32482021,C,T,R007_S,NLRC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32620556,32620556,C,T,R007_S,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32730030,32730030,C,T,R007_S,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,33780435,33780435,C,T,R007_S,LOC105374454,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105374454,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,36775629,36775629,C,T,R007_S,CRIM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRIM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,36780266,36780266,G,A,R007_S,FEZ2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FEZ2,NM_005102:c.*40C>T;NM_001042548:c.*40C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,36943484,36943484,C,T,R007_S,VIT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37447717,37447717,C,T,R007_S,CEBPZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEBPZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37595697,37595697,C,T,R007_S,QPCT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QPCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37595951,37595951,G,A,R007_S,QPCT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QPCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38973935,38973935,G,A,R007_S,SRSF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRSF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39089199,39089199,G,A,R007_S,DHX57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39181608,39181608,G,A,R007_S,ARHGEF33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39411723,39411723,C,T,R007_S,CDKL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42284316,42284316,C,T,R007_S,PKDCC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKDCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42513389,42513389,G,A,R007_S,EML4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42530222,42530222,G,A,R007_S,EML4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42886878,42886878,C,T,R007_S,MTA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43010430,43010430,C,T,R007_S,HAAO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAAO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43973001,43973001,C,T,R007_S,PLEKHH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44058860,44058860,G,A,R007_S,ABCG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44073535,44073535,G,A,R007_S,ABCG8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44105062,44105062,G,A,R007_S,ABCG8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ABCG8,NM_022437:c.*10G>A;NM_001357321:c.*10G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44152159,44152159,C,T,R007_S,LRPPRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRPPRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46770952,46770952,G,A,R007_S,RHOQ,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RHOQ,NM_012249:exon2:c.201+1G>A,NA,NA,.,.,D,.,.,.
chr2,47044372,47044372,C,T,R007_S,LINC01118,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01118,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,47232982,47232982,G,A,R007_S,TTC7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,47238349,47238349,C,T,R007_S,TTC7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48685172,48685172,G,A,R007_S,PPP1R21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,49510166,49510166,C,T,R007_S,FSHR,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FSHR;NRXN1,dist=128500;dist=635475,NA,NA,NA,NA,NA,NA,NA,NA
chr2,50246298,50246298,C,T,R007_S,NRXN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRXN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,53990846,53990846,C,T,R007_S,ASB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB3;GPR75-ASB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,54857195,54857195,C,T,R007_S,SPTBN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,54873216,54873216,G,A,R007_S,SPTBN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55844243,55844243,G,A,R007_S,PPP4R3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP4R3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,60695969,60695969,C,T,R007_S,BCL11A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,BCL11A,NM_138559:exon3:c.386-1G>A;NM_018014:exon3:c.386-1G>A;NM_022893:exon3:c.386-1G>A,NA,NA,.,.,D,.,.,.
chr2,61417802,61417802,G,A,R007_S,USP34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,62901100,62901100,C,T,R007_S,EHBP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EHBP1,NM_001142615:c.-33227C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,63712176,63712176,C,T,R007_S,WDPCP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDPCP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,64084951,64084951,C,T,R007_S,UGP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,65305113,65305113,G,A,R007_S,CEP68,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,65332035,65332035,C,T,R007_S,RAB1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,66774997,66774997,C,T,R007_S,MEIS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,66798596,66798596,C,T,R007_S,MEIS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MEIS1,NM_002398:c.*256C>T,NA,NA,D,.,D,D,N,D
chr2,69015123,69015123,C,T,R007_S,ARHGAP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69302717,69302717,C,T,R007_S,ANTXR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANTXR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69399556,69399556,C,T,R007_S,ANTXR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANTXR1,NM_053034:c.*40C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69586350,69586350,C,T,R007_S,GFPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69626443,69626443,G,A,R007_S,NFU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69692777,69692777,G,A,R007_S,AAK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AAK1,NM_014911:c.*10224C>T,NA,NA,.,D,D,.,.,T
chr2,69692931,69692931,G,A,R007_S,AAK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AAK1,NM_014911:c.*10070C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70516430,70516430,G,A,R007_S,SNRPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71219179,71219179,C,T,R007_S,TEX261,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX261,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71368510,71368510,C,T,R007_S,MPHOSPH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71739069,71739069,G,A,R007_S,DYSF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYSF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71791142,71791142,G,A,R007_S,DYSF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYSF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73316762,73316762,C,T,R007_S,RAB11FIP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74597030,74597030,C,T,R007_S,DCTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74648778,74648778,G,A,R007_S,C2orf81,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,C2orf81;WDR54,dist=79,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74652864,74652864,A,G,R007_S,WDR54,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WDR54,NM_001320823:c.*36A>G;NM_001320824:c.*36A>G;NM_032118:c.*36A>G;NM_001320825:c.*80A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74682434,74682434,G,A,R007_S,INO80B-WBP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,INO80B-WBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74702634,74702634,C,T,R007_S,CCDC142,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC142,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74732351,74732351,G,A,R007_S,PCGF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCGF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74753881,74753881,C,T,R007_S,AUP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AUP1,NM_181575:c.*46G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74804062,74804062,G,A,R007_S,M1AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,M1AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74884756,74884756,G,A,R007_S,SEMA4F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA4F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,77748834,77748834,C,T,R007_S,LRRTM4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LRRTM4,NM_001134745:c.-37G>A;NM_001282924:c.-37G>A;NM_024993:c.-37G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,84518370,84518370,G,A,R007_S,FUNDC2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FUNDC2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85571496,85571496,G,A,R007_S,RETSAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RETSAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85590191,85590191,C,T,R007_S,ELMOD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMOD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85818762,85818762,G,A,R007_S,VAMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85838954,85838954,G,A,R007_S,C2orf68,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2orf68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85864384,85864384,C,T,R007_S,USP39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85925776,85925776,C,T,R007_S,GNLY,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GNLY,NM_006433:c.*79C>T;NM_012483:c.*79C>T;NM_001302758:c.*79C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86075526,86075526,G,A,R007_S,ST3GAL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST3GAL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86359560,86359560,G,A,R007_S,PTCD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTCD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86482012,86482012,G,A,R007_S,REEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89037660,89037660,G,A,R007_S,RPIA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPIA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89160043,89160043,C,T,R007_S,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;NONE,dist=48075;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89309734,89309734,G,A,R007_S,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;NONE,dist=197766;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95948023,95948023,C,T,R007_S,PROM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95954522,95954522,C,T,R007_S,PROM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96943783,96943783,C,T,R007_S,SNRNP200,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRNP200,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96991546,96991546,C,T,R007_S,ITPRIPL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ITPRIPL1,NM_001008949:c.-32C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97276701,97276701,C,T,R007_S,KANSL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANSL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98274831,98274831,C,T,R007_S,ACTR1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98421721,98421721,C,T,R007_S,TMEM131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98432248,98432248,C,T,R007_S,TMEM131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98852941,98852941,G,A,R007_S,VWA3B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,VWA3B,NM_144992:exon18:c.2516+1G>A;NM_001345864:exon12:c.1487+1G>A,NA,NA,.,.,D,.,.,.
chr2,98858814,98858814,G,A,R007_S,VWA3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98948139,98948139,C,T,R007_S,VWA3B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,VWA3B;CNGA3,dist=18390;dist=14479,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98996866,98996866,G,A,R007_S,CNGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99463162,99463162,C,T,R007_S,KIAA1211L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1211L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99681606,99681606,C,T,R007_S,TSGA10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSGA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99757531,99757531,C,T,R007_S,TSGA10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSGA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99911994,99911994,C,T,R007_S,LYG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LYG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101624758,101624758,G,A,R007_S,RPL31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL31;TBC1D8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,103348499,103348499,C,T,R007_S,MFSD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,105886244,105886244,C,T,R007_S,TGFBRAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGFBRAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107448999,107448999,G,A,R007_S,ST6GAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST6GAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,108609608,108609608,C,T,R007_S,SLC5A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,109399353,109399353,C,T,R007_S,RANBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111551352,111551352,C,T,R007_S,ACOXL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111644528,111644528,G,A,R007_S,ACOXL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ACOXL,NM_001365487:c.*119G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113480367,113480367,C,T,R007_S,NT5DC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5DC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113496332,113496332,C,T,R007_S,CKAP2L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CKAP2L,NM_001304361:c.*68G>A;NM_152515:c.*68G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113593131,113593131,C,T,R007_S,IL1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114429426,114429426,G,A,R007_S,RABL2A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RABL2A;SLC35F5,dist=28458;dist=34860,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114513862,114513862,C,T,R007_S,SLC35F5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC35F5,NM_001330314:c.-409G>A;NM_001330317:c.-409G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118704312,118704312,C,T,R007_S,CCDC93,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC93,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,119748136,119748136,C,T,R007_S,MARCO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120187771,120187771,G,A,R007_S,DBI,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,DBI;TMEM37,dist=57644;dist=1659,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120997484,120997484,C,T,R007_S,TMEM185B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TMEM185B;RALB,dist=16508;dist=12944,NA,NA,NA,NA,NA,NA,NA,NA
chr2,121736003,121736003,C,T,R007_S,GLI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,122209426,122209426,C,T,R007_S,CLASP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CLASP1,NM_001207051:exon15:c.1386-1G>A;NM_001142274:exon15:c.1386-1G>A;NM_001142273:exon15:c.1386-1G>A;NM_015282:exon15:c.1386-1G>A,NA,NA,.,.,D,.,.,.
chr2,122484984,122484984,C,T,R007_S,NIFK-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NIFK-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,122519129,122519129,G,A,R007_S,TSN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,124771956,124771956,C,T,R007_S,LOC107985820,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC107985820,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,127818164,127818164,G,A,R007_S,BIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128044648,128044648,G,A,R007_S,ERCC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128083193,128083193,G,A,R007_S,MAP3K2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128183869,128183869,G,A,R007_S,PROC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128347825,128347825,C,T,R007_S,MYO7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128388755,128388755,C,T,R007_S,MYO7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128389024,128389024,G,A,R007_S,MYO7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128412187,128412187,C,T,R007_S,LIMS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,130901068,130901068,G,A,R007_S,CCDC74B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC74B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,130987964,130987964,G,A,R007_S,TUBA3E,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TUBA3E;CCDC115,dist=31952;dist=107542,NA,NA,NA,NA,NA,NA,NA,NA
chr2,130988517,130988517,C,T,R007_S,TUBA3E,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TUBA3E;CCDC115,dist=32505;dist=106989,NA,NA,NA,NA,NA,NA,NA,NA
chr2,132233634,132233634,C,T,R007_S,TUBA3D,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TUBA3D,dist=58,NA,NA,NA,NA,NA,NA,NA,NA
chr2,132248575,132248575,C,T,R007_S,MZT2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MZT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135011887,135011887,G,A,R007_S,MGAT5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MGAT5,NM_001371457:c.-88G>A;NM_002410:c.-88G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135616797,135616797,G,A,R007_S,ACMSD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACMSD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135703467,135703467,G,A,R007_S,CCNT2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCNT2,NM_001320749:c.-236G>A;NM_001320748:c.-25G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135920516,135920516,G,A,R007_S,RAB3GAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3GAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136396261,136396261,C,T,R007_S,R3HDM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,R3HDM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,144245071,144245071,G,A,R007_S,ARHGAP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,148602664,148602664,C,T,R007_S,ACVR2A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ACVR2A,NM_001278579:c.-58C>T;NM_001616:c.-58C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,149241094,149241094,G,A,R007_S,MBD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152267059,152267059,G,A,R007_S,RIF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152496575,152496575,C,T,R007_S,NEB,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NEB,NM_001164508:exon62:c.8686-1G>A;NM_001271208:exon62:c.8686-1G>A;NM_001164507:exon62:c.8686-1G>A;NM_004543:exon62:c.8686-1G>A,NA,NA,.,.,D,.,.,.
chr2,157185191,157185191,C,T,R007_S,NR4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158300587,158300587,G,A,R007_S,CYTIP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CYTIP,NM_004288:c.-55C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158485064,158485064,G,A,R007_S,ACVR1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACVR1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158485260,158485260,C,T,R007_S,ACVR1C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ACVR1C,NM_145259:c.-104G>A;NM_001111033:c.-104G>A;NM_001111032:c.-104G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,159313019,159313019,G,A,R007_S,CCDC148,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCDC148,NM_138803:c.-68C>T;NM_001301684:c.-115862C>T;NM_001301685:c.-68C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160663483,160663483,C,T,R007_S,LY75,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LY75;LY75-CD302,NM_002349:exon34:c.4990+1G>A;NM_001198759:exon34:c.4990+1G>A,NA,NA,.,.,D,.,.,.
chr2,160801413,160801413,C,T,R007_S,PLA2R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,161141262,161141262,C,T,R007_S,RBMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,161169893,161169893,G,A,R007_S,RBMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162072907,162072907,C,T,R007_S,TANK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TANK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162224221,162224221,G,A,R007_S,PSMD14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162362538,162362538,G,A,R007_S,AHCTF1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AHCTF1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165657020,165657020,G,A,R007_S,COBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,170136791,170136791,C,T,R007_S,LRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171678572,171678572,C,T,R007_S,GAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,172563147,172563147,G,A,R007_S,DYNC1I2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1I2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,172966454,172966454,G,A,R007_S,DLX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,173292478,173292478,C,T,R007_S,ITGA6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ITGA6,NM_000210:c.-39C>T;NM_001365529:c.-39C>T;NM_001365530:c.-39C>T;NM_001079818:c.-39C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,174987869,174987869,G,A,R007_S,OLA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,175686296,175686296,C,T,R007_S,CHN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,175945304,175945304,C,T,R007_S,ATF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,177134337,177134337,G,A,R007_S,MTX2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MTX2,NM_001006635:c.-801G>A;NM_001319097:c.-21G>A;NM_001319098:c.-21G>A;NM_006554:c.-21G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179482040,179482040,C,T,R007_S,TTN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TTN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179732959,179732959,C,T,R007_S,CCDC141,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC141,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,180056605,180056605,G,A,R007_S,SESTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SESTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,180819661,180819661,C,T,R007_S,CWC22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CWC22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,182322606,182322606,C,G,R007_S,ITGA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,182376584,182376584,G,A,R007_S,ITGA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,185463850,185463850,G,A,R007_S,ZNF804A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF804A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,187465032,187465032,C,T,R007_S,ITGAV,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ITGAV,NM_001144999:c.-30C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,190640249,190640249,C,T,R007_S,ORMDL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORMDL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191208713,191208713,C,T,R007_S,INPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191895620,191895620,C,T,R007_S,LOC105373805,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC105373805,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,192194655,192194655,C,T,R007_S,MYO1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198361730,198361730,G,A,R007_S,HSPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198498430,198498430,C,T,R007_S,RFTN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198623593,198623593,C,T,R007_S,BOLL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BOLL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201468934,201468934,G,A,R007_S,AOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201503030,201503030,G,A,R007_S,AOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201682001,201682001,G,A,R007_S,BZW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BZW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202005163,202005163,G,A,R007_S,CFLAR-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CFLAR-AS1;CFLAR,NM_001127184:exon5:c.606+1G>A;NM_001202519:exon4:c.318+1G>A;NM_001202517:exon4:c.318+1G>A;NM_001202516:exon5:c.606+1G>A;NM_003879:exon5:c.606+1G>A;NM_001351590:exon5:c.606+1G>A;NM_001351591:exon5:c.606+1G>A;NM_001351594:exon5:c.318+1G>A;NM_001351593:exon4:c.318+1G>A;NM_001127183:exon5:c.606+1G>A;NM_001308042:exon5:c.606+1G>A;NM_001351592:exon5:c.606+1G>A;NM_001202518:exon3:c.318+1G>A;NM_001202515:exon1:UTR5,NA,NA,.,.,D,T,.,.
chr2,202027849,202027849,C,T,R007_S,CFLAR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CFLAR,NM_001202519:c.*46C>T;NM_001351590:c.*46C>T;NM_001308042:c.*46C>T;NM_001202518:c.*46C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202028503,202028503,G,A,R007_S,CFLAR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CFLAR,NM_001202519:c.*700G>A;NM_001351590:c.*700G>A;NM_001308042:c.*700G>A;NM_001202518:c.*700G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202568960,202568960,G,A,R007_S,ALS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202569015,202569015,G,A,R007_S,ALS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202591359,202591359,C,T,R007_S,ALS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203846786,203846786,G,A,R007_S,CARF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203848451,203848451,C,T,R007_S,CARF,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CARF,NM_001282911:c.*104C>T;NM_001352677:c.*190C>T;NM_001322429:c.*104C>T;NM_001352676:c.*104C>T;NM_001104586:c.*104C>T;NM_001282910:c.*104C>T;NM_001282912:c.*104C>T;NM_001352678:c.*104C>T;NM_001322428:c.*104C>T;NM_001322427:c.*104C>T;NM_024744:c.*104C>T;NM_001352679:c.*104C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203980857,203980857,C,T,R007_S,NBEAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBEAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,204247903,204247903,C,T,R007_S,ABI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206417919,206417919,C,T,R007_S,PARD3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARD3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207437974,207437974,C,T,R007_S,ADAM23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,208013885,208013885,C,T,R007_S,KLF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,208773415,208773415,C,T,R007_S,PLEKHM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209047648,209047648,C,T,R007_S,C2orf80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2orf80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,210993747,210993747,G,A,R007_S,KANSL1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANSL1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,211542711,211542711,G,A,R007_S,CPS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CPS1,NM_001369257:c.*2G>A;NM_001122633:c.*2G>A;NM_001369256:c.*2G>A;NM_001875:c.*2G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,212252570,212252570,G,A,R007_S,ERBB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERBB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,214013459,214013459,G,A,R007_S,IKZF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IKZF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,216213789,216213789,G,A,R007_S,ATIC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATIC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,216997113,216997113,G,C,R007_S,XRCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217285386,217285386,C,T,R007_S,SMARCAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217315909,217315909,C,T,R007_S,SMARCAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,218941266,218941266,G,A,R007_S,RUFY4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUFY4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219129723,219129723,C,T,R007_S,AAMP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AAMP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219135166,219135166,G,A,R007_S,AAMP,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,AAMP;PNKD,dist=76,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219205404,219205404,C,T,R007_S,CATIP-AS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CATIP-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219221945,219221945,G,A,R007_S,CATIP-AS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CATIP-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219222822,219222822,C,T,R007_S,CATIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219252487,219252487,G,A,R007_S,SLC11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219559055,219559055,G,A,R007_S,STK36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219561663,219561663,G,A,R007_S,STK36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219679626,219679626,C,T,R007_S,CYP27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219695463,219695463,C,T,R007_S,PRKAG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKAG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219878153,219878153,C,T,R007_S,LOC100129175,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100129175,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219896403,219896403,G,A,R007_S,CFAP65,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP65,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219940903,219940903,C,T,R007_S,NHEJ1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NHEJ1,NM_024782:c.*200G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220071959,220071959,G,A,R007_S,ZFAND2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFAND2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220100171,220100171,C,T,R007_S,ANKZF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKZF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220100911,220100911,G,A,R007_S,ANKZF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKZF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220118121,220118121,G,A,R007_S,TUBA4B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TUBA4B,NM_001355221:c.-9G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220246357,220246357,G,A,R007_S,DNPEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNPEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220307909,220307909,C,T,R007_S,SPEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220336805,220336805,C,T,R007_S,SPEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220346212,220346212,G,A,R007_S,SPEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220346414,220346414,C,T,R007_S,SPEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220356678,220356678,C,T,R007_S,SPEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220417750,220417750,G,A,R007_S,OBSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220466311,220466311,G,A,R007_S,STK11IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK11IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220471627,220471627,C,T,R007_S,STK11IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK11IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220478436,220478436,C,T,R007_S,STK11IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK11IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,223783772,223783772,G,A,R007_S,ACSL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,224862827,224862827,C,T,R007_S,SERPINE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,225848447,225848447,C,T,R007_S,DOCK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231077271,231077271,G,A,R007_S,SP110,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP110,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231134756,231134756,C,T,R007_S,SP140,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231905972,231905972,C,T,R007_S,C2orf72,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2orf72,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231927144,231927144,G,A,R007_S,PSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233244113,233244113,C,T,R007_S,ALPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233322252,233322252,C,T,R007_S,ALPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233323516,233323516,C,T,R007_S,ALPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233346209,233346209,G,A,R007_S,ECEL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233389602,233389602,G,A,R007_S,PRSS56,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS56,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233392022,233392022,G,A,R007_S,CHRND,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRND,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233748243,233748243,C,T,R007_S,NGEF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NGEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234054751,234054751,C,T,R007_S,INPP5D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234240634,234240634,G,A,R007_S,SAG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234350493,234350493,G,A,R007_S,DGKD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234431811,234431811,G,A,R007_S,USP40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234580538,234580538,G,A,R007_S,UGT1A10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGT1A10;UGT1A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234702261,234702261,C,T,R007_S,MROH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234732410,234732410,G,A,R007_S,MROH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234856053,234856053,G,A,R007_S,TRPM8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234959593,234959593,C,T,R007_S,SPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,237289383,237289383,G,A,R007_S,IQCA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238330818,238330818,C,T,R007_S,COL6A3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,COL6A3;MLPH,dist=7968;dist=64235,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238681599,238681599,G,A,R007_S,LRRFIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRFIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238991758,238991758,G,A,R007_S,UBE2F-SCLY,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,UBE2F-SCLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239003179,239003179,C,T,R007_S,UBE2F-SCLY,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,UBE2F-SCLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,240219716,240219716,C,T,R007_S,HDAC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,240684652,240684652,G,A,R007_S,LOC150935,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC150935,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241405136,241405136,C,T,R007_S,GPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241459968,241459968,C,T,R007_S,ANKMY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKMY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241674080,241674080,G,A,R007_S,KIF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241808577,241808577,C,T,R007_S,AGXT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGXT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241815277,241815277,G,A,R007_S,AGXT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGXT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241826386,241826386,G,A,R007_S,MAB21L4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAB21L4,NM_001085437:c.*101C>T;NM_001282921:c.*101C>T;NM_024861:c.*101C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241831405,241831405,G,A,R007_S,MAB21L4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MAB21L4,NM_001282921:c.-49C>T;NM_024861:c.-49C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242004402,242004402,G,A,R007_S,SNED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242187821,242187821,C,T,R007_S,HDLBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDLBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242694677,242694677,C,T,R007_S,D2HGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,D2HGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242793188,242793188,C,T,R007_S,PDCD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PDCD1,NM_005018:c.*22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,4820835,4820835,C,T,R007_S,ITPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,6902978,6902978,G,A,R007_S,GRM7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GRM7,NM_181874:c.-98G>A;NM_000844:c.-98G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,8686294,8686294,C,T,R007_S,SSUH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSUH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,8922984,8922984,G,A,R007_S,RAD18,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RAD18,NM_020165:c.*57C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9057465,9057465,G,A,R007_S,SRGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9069871,9069871,G,A,R007_S,SRGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9426123,9426123,G,A,R007_S,THUMPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THUMPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9783646,9783646,C,T,R007_S,BRPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9783921,9783921,G,A,R007_S,BRPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9883638,9883638,C,T,R007_S,RPUSD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPUSD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10018517,10018517,C,T,R007_S,EMC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10028364,10028364,C,T,R007_S,EMC3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EMC3,NM_018447:c.-19G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10133856,10133856,C,T,R007_S,FANCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCD2;FANCD2OS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,11059421,11059421,G,A,R007_S,SLC6A1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SLC6A1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12209994,12209994,G,A,R007_S,SYN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12892063,12892063,G,A,R007_S,RPL32,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RPL32;LINC02022,dist=8982;dist=26958,NA,NA,NA,NA,NA,NA,NA,NA
chr3,13441219,13441219,C,T,R007_S,NUP210,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP210,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,13660291,13660291,G,A,R007_S,FBLN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,13660395,13660395,C,T,R007_S,FBLN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14520520,14520520,C,T,R007_S,SLC6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14535459,14535459,C,T,R007_S,GRIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14563102,14563102,C,T,R007_S,GRIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15219511,15219511,G,A,R007_S,COL6A4P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,COL6A4P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,16646693,16646693,C,T,R007_S,DAZL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAZL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,25502635,25502635,C,T,R007_S,RARB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RARB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,30703158,30703158,G,A,R007_S,TGFBR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGFBR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,32726835,32726835,G,A,R007_S,CNOT10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CNOT10,NM_015442:c.-118G>A;NM_001256741:c.-118G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33359104,33359104,G,A,R007_S,FBXL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,35786003,35786003,G,A,R007_S,MIR128-2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR128-2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37034637,37034637,G,A,R007_S,EPM2AIP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,EPM2AIP1;MLH1,dist=204,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37522892,37522892,G,A,R007_S,ITGA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37574987,37574987,G,A,R007_S,ITGA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38158917,38158917,G,A,R007_S,DLEC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLEC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38265431,38265431,C,T,R007_S,OXSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38294425,38294425,G,A,R007_S,OXSR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OXSR1,NM_005109:c.*43G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38597341,38597341,C,T,R007_S,SCN5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38640296,38640296,G,A,R007_S,SCN5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38748972,38748972,C,T,R007_S,SCN10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38988189,38988189,C,T,R007_S,SCN11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39142195,39142195,C,T,R007_S,GORASP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GORASP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,40351472,40351472,C,T,R007_S,EIF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,40523353,40523353,G,A,R007_S,ZNF619,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZNF619,NM_001145082:exon3:c.25-1G>A;NM_001145094:exon3:UTR5;NM_173656:exon3:UTR5;NM_001145093:exon3:c.25-1G>A;NM_001363277:exon3:UTR5,NA,NA,.,.,N,.,.,.
chr3,42192905,42192905,G,A,R007_S,TRAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42684784,42684784,C,T,R007_S,LOC101928323,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928323,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42704669,42704669,G,A,R007_S,ZBTB47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42781321,42781321,G,A,R007_S,CCDC13-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCDC13-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42959043,42959043,C,T,R007_S,ZNF662,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF662,NM_001134656:c.*2197C>T;NM_207404:c.*2197C>T,NA,NA,T,.,N,.,N,T
chr3,44396325,44396325,G,A,R007_S,TCAIM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCAIM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44492781,44492781,G,A,R007_S,ZNF445,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF445,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44893516,44893516,C,T,R007_S,KIF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45043138,45043138,G,A,R007_S,EXOSC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45067786,45067786,G,A,R007_S,CLEC3B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CLEC3B,dist=9,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45130538,45130538,C,T,R007_S,CDCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45134740,45134740,G,A,R007_S,CDCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45804607,45804607,C,T,R007_S,SLC6A20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46014735,46014735,C,T,R007_S,FYCO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FYCO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46713222,46713222,C,T,R007_S,ALS2CL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALS2CL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46713610,46713610,C,T,R007_S,ALS2CL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALS2CL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46718527,46718527,G,A,R007_S,ALS2CL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALS2CL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46722206,46722206,G,A,R007_S,ALS2CL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALS2CL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46759320,46759320,G,A,R007_S,PRSS50,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PRSS50,NM_013270:c.-6C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46785532,46785532,G,A,R007_S,PRSS45P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRSS45P,NA,NA,NA,D,D,D,D,D,D
chr3,47037615,47037615,G,A,R007_S,NBEAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBEAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47084228,47084228,C,T,R007_S,SETD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47447769,47447769,G,A,R007_S,PTPN23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47448990,47448990,C,T,R007_S,PTPN23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47449783,47449783,G,A,R007_S,PTPN23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47866683,47866683,G,A,R007_S,DHX30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX30,NA,NA,NA,D,.,D,T,N,T
chr3,48298386,48298386,G,A,R007_S,ZNF589,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF589,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48460829,48460829,C,T,R007_S,PLXNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48687710,48687710,G,A,R007_S,CELSR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48687870,48687870,C,T,R007_S,CELSR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49040129,49040129,G,A,R007_S,P4HTM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P4HTM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49051974,49051974,G,A,R007_S,WDR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49059701,49059701,G,A,R007_S,NDUFAF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFAF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49161564,49161564,G,A,R007_S,LAMB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49212429,49212429,C,T,R007_S,KLHDC8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHDC8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49318321,49318321,C,T,R007_S,USP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49734441,49734441,G,A,R007_S,RNF123,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF123,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49929309,49929309,C,T,R007_S,MST1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MST1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50256459,50256459,G,A,R007_S,SLC38A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50340405,50340405,G,A,R007_S,HYAL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HYAL1,NM_153281:c.-18C>T;NM_153282:c.-18C>T;NM_033159:c.-18C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50386260,50386260,C,T,R007_S,NPRL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPRL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50387024,50387024,G,A,R007_S,NPRL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPRL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50608883,50608883,G,A,R007_S,HEMK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEMK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50615079,50615079,C,T,R007_S,HEMK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEMK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51352271,51352271,C,T,R007_S,DOCK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51417456,51417456,G,A,R007_S,DOCK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51895754,51895754,C,T,R007_S,IQCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51978344,51978344,G,A,R007_S,PARP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52029396,52029396,G,A,R007_S,RPL29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52183169,52183169,G,A,R007_S,POC1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POC1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52233129,52233129,G,A,R007_S,ALAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52327558,52327558,G,A,R007_S,GLYCTK,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GLYCTK,NM_145262:c.*416G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52429265,52429265,C,T,R007_S,DNAH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52442129,52442129,C,T,R007_S,BAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52486561,52486561,C,T,R007_S,TNNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52548874,52548874,G,A,R007_S,STAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52842769,52842769,G,A,R007_S,ITIH3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ITIH3,NM_002217:c.*72G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52881507,52881507,G,A,R007_S,STIMATE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STIMATE;STIMATE-MUSTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53164541,53164541,G,A,R007_S,RFT1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RFT1,dist=90,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53275070,53275070,C,T,R007_S,TKT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TKT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53803959,53803959,C,T,R007_S,CACNA1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57137256,57137256,C,T,R007_S,IL17RD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL17RD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57543462,57543462,G,A,R007_S,PDE12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58064561,58064561,G,A,R007_S,FLNB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58084655,58084655,C,T,R007_S,FLNB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,62142950,62142950,C,T,R007_S,PTPRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,62279133,62279133,C,T,R007_S,PTPRG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PTPRG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,64084678,64084678,C,T,R007_S,PRICKLE2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRICKLE2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,64526938,64526938,G,A,R007_S,ADAMTS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,64590055,64590055,C,T,R007_S,ADAMTS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65415838,65415838,G,A,R007_S,MAGI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,69247732,69247732,G,A,R007_S,FRMD4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,71733764,71733764,C,T,R007_S,EIF4E3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EIF4E3,NM_001282886:c.*69G>A;NM_001134651:c.*69G>A;NM_173359:c.*69G>A;NM_001134649:c.*69G>A;NM_001134650:c.*69G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,71743101,71743101,G,A,R007_S,EIF4E3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4E3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,71759473,71759473,G,A,R007_S,EIF4E3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4E3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,71759653,71759653,G,A,R007_S,EIF4E3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4E3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,73016871,73016871,G,A,R007_S,GXYLT2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GXYLT2,NM_001080393:exon6:c.1149+1G>A,NA,NA,.,.,D,.,.,.
chr3,73112146,73112146,C,T,R007_S,EBLN2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EBLN2,NM_018029:c.*95C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,74334646,74334646,G,A,R007_S,CNTN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,79067687,79067687,C,T,R007_S,ROBO1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ROBO1,NM_001145845:c.-76G>A;NM_133631:c.-76G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,88205793,88205793,G,A,R007_S,C3orf38,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C3orf38,NM_173824:c.*8G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,89448772,89448772,G,A,R007_S,EPHA3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EPHA3,NM_182644:c.*116G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,97439348,97439348,T,A,R007_S,EPHA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,100535384,100535384,G,A,R007_S,ABI3BP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ABI3BP,NM_001365643:c.*119C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,101240938,101240938,G,A,R007_S,FAM172BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FAM172BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,101571652,101571652,G,A,R007_S,NFKBIZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFKBIZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,107925405,107925405,T,C,R007_S,IFT57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108822658,108822658,C,T,R007_S,MORC1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MORC1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,110791088,110791088,G,A,R007_S,NECTIN3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NECTIN3,NM_001243288:c.-179G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111794370,111794370,G,A,R007_S,TMPRSS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113595148,113595148,G,A,R007_S,GRAMD1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113676758,113676758,G,A,R007_S,ZDHHC23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119217578,119217578,G,A,R007_S,TIMMDC1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TIMMDC1,NM_016589:c.-3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,120363312,120363312,G,A,R007_S,HGD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HGD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121613182,121613182,G,A,R007_S,SLC15A2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SLC15A2,dist=66,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121613481,121613481,G,A,R007_S,SLC15A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC15A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122283219,122283219,C,T,R007_S,DTX3L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DTX3L,NM_138287:c.-55C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122598343,122598343,G,A,R007_S,SLC49A4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC49A4,NM_032839:c.*118G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,123953638,123953638,G,A,R007_S,KALRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KALRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124053066,124053066,G,A,R007_S,KALRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KALRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124374519,124374519,G,A,R007_S,KALRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KALRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124906302,124906302,G,A,R007_S,SLC12A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124909438,124909438,G,A,R007_S,SLC12A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125850207,125850207,G,A,R007_S,ALDH1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126226789,126226789,T,C,R007_S,UROC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UROC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126229501,126229501,G,A,R007_S,UROC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UROC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126328153,126328153,G,A,R007_S,TXNRD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNRD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126375033,126375033,G,A,R007_S,TXNRD3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TXNRD3;NUP210P1,dist=1066;dist=5891,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126723700,126723700,C,T,R007_S,PLXNA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126741460,126741460,C,T,R007_S,PLXNA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126916275,126916275,G,A,R007_S,C3orf56,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C3orf56,NM_001007534:c.*18G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127292292,127292292,C,T,R007_S,TPRA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TPRA1,NM_001353001:c.*72G>A;NM_001353002:c.*72G>A;NM_001353006:c.*148G>A;NM_001353003:c.*72G>A;NM_001353005:c.*72G>A;NM_001353007:c.*72G>A;NM_001353004:c.*72G>A;NM_001142646:c.*148G>A;NM_001136053:c.*72G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127336035,127336035,G,A,R007_S,MCM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127336046,127336046,G,A,R007_S,MCM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127399591,127399591,G,A,R007_S,ABTB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ABTB1,NM_032548:c.*273G>A;NM_172027:c.*273G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127434514,127434514,G,A,R007_S,MGLL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGLL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128583967,128583967,G,A,R007_S,LOC653712,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC653712,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128603590,128603590,G,A,R007_S,ACAD9,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ACAD9,NM_014049:exon2:c.244+1G>A,NA,NA,.,.,D,.,.,.
chr3,129251260,129251260,G,A,R007_S,RHO,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RHO,NM_000539:exon3:c.696+1G>A,NA,NA,.,.,D,.,.,.
chr3,129305383,129305383,G,A,R007_S,PLXND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130340618,130340618,G,A,R007_S,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130613796,130613796,G,A,R007_S,ATP2C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132184781,132184781,C,T,R007_S,DNAJC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132186158,132186158,G,A,R007_S,DNAJC13,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DNAJC13,NM_001329126:exon20:c.2208+1G>A;NM_015268:exon20:c.2208+1G>A,NA,NA,.,.,D,.,.,.
chr3,132255866,132255866,G,A,R007_S,DNAJC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132256002,132256002,G,A,R007_S,DNAJC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,133475999,133475999,G,A,R007_S,TF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,137880639,137880639,G,A,R007_S,DBR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DBR1,NM_016216:c.*92C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138762593,138762593,G,A,R007_S,PRR23C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRR23C,NM_001134657:c.*81C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139062773,139062773,C,T,R007_S,MRPS22,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MRPS22,dist=63,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139171852,139171852,G,A,R007_S,LOC100507291,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100507291,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141896419,141896419,C,T,R007_S,GK5,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GK5,NM_001039547:exon12:c.1049-1G>A,NA,NA,.,.,D,.,.,.
chr3,142051790,142051790,G,A,R007_S,XRN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,149479433,149479433,G,A,R007_S,ANKUB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKUB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,149498264,149498264,G,A,R007_S,ANKUB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKUB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150804821,150804821,G,A,R007_S,MED12L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED12L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,152162982,152162982,G,A,R007_S,MBNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,153970882,153970882,G,A,R007_S,ARHGEF26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,155313965,155313965,T,C,R007_S,PLCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,157177671,157177671,G,A,R007_S,VEPH1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,VEPH1,NM_001167915:c.*186C>T;NM_001167916:c.*186C>T;NM_001167917:c.*40C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160474075,160474075,G,A,R007_S,PPM1L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PPM1L,NM_139245:c.-22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160560181,160560181,G,A,R007_S,PPM1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPM1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,167254827,167254827,A,G,R007_S,WDR49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,167322015,167322015,G,A,R007_S,WDR49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,168269752,168269752,G,A,R007_S,EGFEM1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,EGFEM1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,168861627,168861627,G,A,R007_S,MECOM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MECOM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169899425,169899425,G,A,R007_S,PHC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170204259,170204259,G,A,R007_S,SLC7A14-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SLC7A14-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,171571260,171571260,G,A,R007_S,TMEM212,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM212,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,173996617,173996617,G,A,R007_S,NLGN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLGN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,178977906,178977906,G,A,R007_S,KCNMB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNMB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179293160,179293160,C,T,R007_S,ACTL6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTL6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179399569,179399569,T,C,R007_S,USP13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,182808840,182808840,G,A,R007_S,MCCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183028638,183028638,G,A,R007_S,MCF2L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCF2L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183885308,183885308,C,T,R007_S,DVL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DVL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183894623,183894623,G,A,R007_S,AP2M1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP2M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183899056,183899056,G,A,R007_S,AP2M1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP2M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184038645,184038645,G,A,R007_S,EIF4G1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4G1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184038797,184038797,G,A,R007_S,EIF4G1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4G1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184044626,184044626,G,A,R007_S,EIF4G1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4G1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184103822,184103822,G,A,R007_S,CHRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184119378,184119378,G,A,R007_S,LINC02054,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02054,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185195091,185195091,C,T,R007_S,MAP3K13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185300419,185300419,C,T,R007_S,LIPH,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LIPH;SENP2,dist=30043;dist=3664,NA,NA,D,.,.,.,N,T
chr3,186287888,186287888,G,A,R007_S,TBCCD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCCD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,189607096,189607096,G,A,R007_S,TP63,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TP63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,189691870,189691870,G,A,R007_S,P3H2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P3H2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194061723,194061723,C,T,R007_S,CPN2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CPN2,NM_001291988:c.*71G>A;NM_001080513:c.*71G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195497301,195497301,C,T,R007_S,MUC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195944708,195944708,G,A,R007_S,SLC51A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC51A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197260441,197260441,G,A,R007_S,BDH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BDH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,891963,891963,G,A,R007_S,GAK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1379815,1379815,G,A,R007_S,UVSSA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UVSSA,NM_001317934:c.*66G>A;NM_020894:c.*66G>A;NM_001317935:c.*66G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2045557,2045557,C,T,R007_S,C4orf48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C4orf48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2083349,2083349,G,A,R007_S,POLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2452897,2452897,G,A,R007_S,CFAP99,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP99,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2746800,2746800,C,T,R007_S,TNIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2988846,2988846,C,T,R007_S,GRK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3444693,3444693,G,A,R007_S,HGFAC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HGFAC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5975584,5975584,G,A,R007_S,C4orf50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C4orf50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,6374212,6374212,C,T,R007_S,PPP2R2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,6383220,6383220,G,A,R007_S,PPP2R2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,7802150,7802150,C,T,R007_S,AFAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,8284267,8284267,G,A,R007_S,HTRA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTRA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25160794,25160794,G,A,R007_S,SEPSECS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPSECS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25677657,25677657,G,A,R007_S,SLC34A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC34A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,26585932,26585932,G,A,R007_S,TBC1D19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39553563,39553563,C,T,R007_S,UGDH-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,UGDH-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42154739,42154739,G,A,R007_S,BEND4,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,BEND4,dist=67,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42658912,42658912,G,A,R007_S,ATP8A1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATP8A1,NM_001105529:c.-22C>T;NM_006095:c.-22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47514848,47514848,G,A,R007_S,ATP10D,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ATP10D,NM_020453:exon2:c.290+1G>A,NA,NA,.,.,D,.,.,.
chr4,47682019,47682019,G,A,R007_S,CORIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CORIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48490972,48490972,G,A,R007_S,SLC10A4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC10A4,NM_152679:c.*16G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,52943305,52943305,G,A,R007_S,SPATA18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,54362185,54362185,C,T,R007_S,LNX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LNX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,54966423,54966423,C,T,R007_S,GSX2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GSX2,NM_133267:c.-89C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55573491,55573491,C,T,R007_S,KIT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55979661,55979661,G,A,R007_S,KDR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57523855,57523855,G,A,R007_S,HOPX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOPX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71691187,71691187,G,A,R007_S,GRSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,72204948,72204948,G,A,R007_S,SLC4A4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC4A4,NM_003759:c.-18G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,72607577,72607577,C,T,R007_S,GC,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GC,NM_001204307:c.*36G>A;NM_001204306:c.*36G>A;NM_000583:c.*36G>A,NA,NA,T,.,N,T,N,T
chr4,73942831,73942831,G,A,R007_S,ANKRD17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76481889,76481889,G,A,R007_S,ODAPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ODAPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77227887,77227887,G,A,R007_S,STBD1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STBD1,NM_003943:c.-36G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77675407,77675407,C,T,R007_S,SHROOM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHROOM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79236661,79236661,C,T,R007_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81222329,81222329,G,A,R007_S,FGF5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FGF5;CFAP299,dist=10158;dist=34545,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83424017,83424017,C,T,R007_S,TMEM150C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM150C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83994577,83994577,C,T,R007_S,COPS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,85599999,85599999,C,T,R007_S,WDFY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDFY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89015839,89015839,G,A,R007_S,ABCG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89052168,89052168,G,A,R007_S,ABCG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89444937,89444937,G,A,R007_S,PIGY,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PIGY,NM_001042616:c.-1997C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,94749998,94749998,C,T,R007_S,ATOH1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATOH1,NM_005172:c.-80C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99927011,99927011,C,T,R007_S,METAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100045645,100045645,G,A,R007_S,LOC100507053,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100507053,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,102269784,102269784,C,T,R007_S,FLJ20021,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FLJ20021,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103747674,103747674,C,T,R007_S,UBE2D3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,UBE2D3,NM_003340:c.-9G>A;NM_181892:c.-9G>A;NM_181891:c.-9G>A;NM_181889:c.-9G>A;NM_181890:c.-9G>A;NM_181888:c.-9G>A;NM_181887:c.-9G>A;NM_181886:c.-9G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,104640879,104640879,C,T,R007_S,TACR3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TACR3,NM_001059:c.-47G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,106111641,106111641,G,A,R007_S,TET2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TET2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113569340,113569340,C,T,R007_S,MIR302A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR302A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114095554,114095554,C,T,R007_S,ANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119737857,119737857,G,A,R007_S,SEC24D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC24D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120259366,120259366,C,T,R007_S,FABP2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FABP2;LINC01061,dist=16073;dist=67312,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120548273,120548273,G,A,R007_S,PDE5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120987920,120987920,C,T,R007_S,MAD2L1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MAD2L1,NM_002358:c.-31G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,122853386,122853386,G,A,R007_S,TRPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,123274047,123274047,G,A,R007_S,KIAA1109,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1109,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,140439294,140439294,G,A,R007_S,SETD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,143268670,143268670,G,A,R007_S,INPP4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146468182,146468182,G,A,R007_S,SMAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146682650,146682650,C,T,R007_S,ZNF827,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF827,NM_001306215:c.*118G>A;NM_178835:c.*139G>A,NA,NA,D,.,D,T,N,T
chr4,146684349,146684349,C,T,R007_S,ZNF827,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF827,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,148265893,148265893,G,A,R007_S,MIR548G,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR548G,dist=24,NA,NA,NA,NA,NA,NA,NA,NA
chr4,151169391,151169391,C,T,R007_S,DCLK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCLK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,151818870,151818870,G,A,R007_S,LRBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,152086733,152086733,G,A,R007_S,SH3D19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3D19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,154265929,154265929,C,T,R007_S,MND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,154265968,154265968,G,A,R007_S,MND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,154388192,154388192,C,T,R007_S,TMEM131L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM131L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,155254659,155254659,G,A,R007_S,DCHS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCHS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,159566060,159566060,G,A,R007_S,RXFP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RXFP1,NM_001253727:exon15:c.1197-1G>A;NM_001253730:exon14:c.723-1G>A;NM_001253733:exon15:c.648-1G>A;NM_001363776:exon16:c.873-1G>A;NM_021634:exon15:c.1116-1G>A;NM_001253728:exon14:c.1017-1G>A;NM_001253729:exon13:c.972-1G>A;NM_001253732:exon16:c.720-1G>A,NA,NA,.,.,D,.,.,.
chr4,159644521,159644521,C,T,R007_S,PPID,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PPID,NM_005038:c.-81G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,165962685,165962685,C,T,R007_S,TRIM60,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRIM60,NM_152620:c.*45C>T;NM_001258025:c.*45C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,165981218,165981218,C,T,R007_S,TRIM60,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM60;TMEM192,dist=18317;dist=10542,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166405817,166405817,G,A,R007_S,CPE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166408538,166408538,G,A,R007_S,CPE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,169351628,169351628,C,T,R007_S,DDX60L,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DDX60L,NM_001345927:exon13:c.1677+1G>A;NM_001012967:exon13:c.1677+1G>A;NM_001291510:exon13:c.1677+1G>A,NA,NA,.,.,D,.,.,.
chr4,184426339,184426339,G,A,R007_S,ING2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ING2,NM_001564:c.-10G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,186263271,186263271,G,A,R007_S,SNX25,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SNX25,NM_001317781:exon12:c.1695+1G>A,NA,NA,.,.,D,.,.,.
chr5,825264,825264,G,A,R007_S,ZDHHC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,865763,865763,G,A,R007_S,BRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1034565,1034565,G,A,R007_S,NKD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NKD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1074801,1074801,G,A,R007_S,SLC12A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,2752620,2752620,C,T,R007_S,C5orf38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5orf38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,3600635,3600635,G,A,R007_S,IRX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,6656297,6656297,G,A,R007_S,SRD5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRD5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,6746224,6746224,G,A,R007_S,TENT4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENT4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,7896818,7896818,C,T,R007_S,MTRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10250089,10250089,G,A,R007_S,CCT5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCT5,NM_001306153:c.-27G>A;NM_001306154:c.-364G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14387489,14387489,G,C,R007_S,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14871345,14871345,C,T,R007_S,ANKH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,15927989,15927989,C,T,R007_S,FBXL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,16451758,16451758,G,A,R007_S,ZNF622,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF622,NM_033414:c.*8C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,31541191,31541191,G,A,R007_S,C5orf22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5orf22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32711876,32711876,C,T,R007_S,NPR3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NPR3,NM_001204375:c.-7C>T;NM_000908:c.-7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35068217,35068217,G,A,R007_S,PRLR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35694553,35694553,G,A,R007_S,SPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35955991,35955991,G,A,R007_S,UGT3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGT3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36212067,36212067,G,A,R007_S,NADK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NADK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37227221,37227221,C,T,R007_S,CPLANE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPLANE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38975776,38975776,C,T,R007_S,RICTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RICTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,39364629,39364629,C,T,R007_S,C9,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,C9,dist=32,NA,NA,NA,NA,NA,NA,NA,NA
chr5,40958092,40958092,C,T,R007_S,C7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,44310511,44310511,C,T,R007_S,FGF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,52285233,52285233,G,A,R007_S,ITGA2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ITGA2,NM_002203:c.-66G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54320036,54320036,C,T,R007_S,GZMK,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,GZMK;LOC102467081,dist=48,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55479501,55479501,C,T,R007_S,ANKRD55,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55760805,55760805,G,A,R007_S,LINC01948,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01948,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,59893551,59893551,C,T,R007_S,DEPDC1B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DEPDC1B,NM_018369:c.*29G>A;NM_001145208:c.*29G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,60183243,60183243,A,G,R007_S,ERCC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,60240979,60240979,G,A,R007_S,ERCC8,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ERCC8;NDUFAF2,dist=53,NA,NA,NA,NA,NA,NA,NA,NA
chr5,61762945,61762945,C,T,R007_S,IPO11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPO11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,61766062,61766062,G,A,R007_S,IPO11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPO11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,66259708,66259708,C,T,R007_S,MAST4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAST4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,67569873,67569873,G,A,R007_S,PIK3R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68471212,68471212,G,A,R007_S,CCNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,71016487,71016487,C,T,R007_S,CARTPT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CARTPT,NM_004291:c.*45C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72204772,72204772,G,A,R007_S,TNPO1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNPO1,NM_002270:c.*272G>A;NM_001364295:c.*272G>A;NM_001364292:c.*272G>A;NM_001364293:c.*272G>A;NM_001364294:c.*272G>A;NM_153188:c.*272G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72427333,72427333,C,T,R007_S,TMEM171,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM171,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74047326,74047326,G,A,R007_S,GFM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74695997,74695997,G,A,R007_S,CERT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76624805,76624805,G,A,R007_S,PDE8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76787979,76787979,C,T,R007_S,WDR41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79739641,79739641,G,A,R007_S,ZFYVE16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFYVE16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80512946,80512946,C,T,R007_S,RASGRF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGRF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80521613,80521613,C,T,R007_S,RASGRF2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RASGRF2,NM_006909:c.*24C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80600973,80600973,C,T,R007_S,ZCCHC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80736376,80736376,C,T,R007_S,SSBP2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SSBP2,NM_012446:exon14:c.928+1G>A;NM_001256736:exon13:c.838+1G>A;NM_001345886:exon14:c.952+1G>A;NM_001256732:exon14:c.952+1G>A;NM_001256733:exon13:c.868+1G>A;NM_001256735:exon13:c.838+1G>A;NM_001256734:exon13:c.862+1G>A,NA,NA,D,.,D,.,D,T
chr5,82940575,82940575,C,T,R007_S,HAPLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAPLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,85916285,85916285,G,A,R007_S,COX7C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX7C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,90046311,90046311,G,A,R007_S,ADGRV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,90149081,90149081,C,T,R007_S,ADGRV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,93808090,93808090,G,A,R007_S,KIAA0825,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0825,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,96031509,96031509,C,T,R007_S,CAST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,96245230,96245230,C,T,R007_S,ERAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,111496872,111496872,C,T,R007_S,EPB41L4A-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,EPB41L4A-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112197006,112197006,C,T,R007_S,SRP19,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SRP19,NM_001204196:c.-68C>T;NM_001204194:c.-68C>T;NM_001204193:c.-68C>T;NM_003135:c.-68C>T;NM_001204199:c.-68C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,114588795,114588795,C,T,R007_S,PGGT1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGGT1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,115176799,115176799,C,T,R007_S,ATG12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,115628106,115628106,C,T,R007_S,COMMD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMMD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,118323948,118323948,C,T,R007_S,DTWD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTWD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122436629,122436629,C,T,R007_S,PRDM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,125880637,125880637,G,A,R007_S,ALDH7A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ALDH7A1,NM_001201377:c.*20C>T;NM_001182:c.*20C>T;NM_001202404:c.*20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127712608,127712608,C,T,R007_S,FBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131322501,131322501,G,A,R007_S,ACSL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131549817,131549817,G,A,R007_S,P4HA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P4HA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132159461,132159461,G,A,R007_S,SHROOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHROOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132160769,132160769,G,A,R007_S,SHROOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHROOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132227844,132227844,C,T,R007_S,AFF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF4,NA,NA,NA,.,.,D,.,.,.
chr5,132560760,132560760,G,A,R007_S,FSTL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSTL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,135549318,135549318,G,A,R007_S,TRPC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,135701045,135701045,C,T,R007_S,TRPC7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TRPC7,NM_001167576:c.-103G>A;NM_001167577:c.-103G>A;NM_020389:c.-103G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,136997580,136997580,C,T,R007_S,KLHL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137027932,137027932,C,T,R007_S,KLHL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137320926,137320926,A,G,R007_S,FAM13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137593677,137593677,C,T,R007_S,GFRA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFRA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137600289,137600289,G,A,R007_S,GFRA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFRA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137673880,137673880,C,T,R007_S,CDC25C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CDC25C,NM_001364026:c.-36G>A;NM_001318098:c.-223G>A;NM_001287583:c.-36G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137735536,137735536,C,T,R007_S,KDM3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,138775168,138775168,C,T,R007_S,DNAJC18,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DNAJC18,NM_152686:c.-34G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139215151,139215151,C,T,R007_S,PSD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139494759,139494759,C,A,R007_S,PURA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PURA,NM_005859:c.*24C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139893107,139893107,G,A,R007_S,ANKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKHD1;ANKHD1-EIF4EBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140038810,140038810,G,A,R007_S,IK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140058796,140058796,C,T,R007_S,HARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140070368,140070368,G,A,R007_S,HARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140077437,140077437,G,A,R007_S,HARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140077442,140077442,C,T,R007_S,HARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140216340,140216340,C,T,R007_S,PCDHA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDHA1;PCDHA2;PCDHA3;PCDHA4;PCDHA5;PCDHA6;PCDHA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140806358,140806358,C,T,R007_S,PCDHGB8P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PCDHGB8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140885081,140885081,G,A,R007_S,PCDHGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDHGA1;PCDHGA10;PCDHGA11;PCDHGA12;PCDHGA2;PCDHGA3;PCDHGA4;PCDHGA5;PCDHGA6;PCDHGA7;PCDHGA8;PCDHGA9;PCDHGB1;PCDHGB2;PCDHGB3;PCDHGB4;PCDHGB5;PCDHGB6;PCDHGB7;PCDHGC3;PCDHGC4;PCDHGC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140885129,140885129,C,T,R007_S,PCDHGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDHGA1;PCDHGA10;PCDHGA11;PCDHGA12;PCDHGA2;PCDHGA3;PCDHGA4;PCDHGA5;PCDHGA6;PCDHGA7;PCDHGA8;PCDHGA9;PCDHGB1;PCDHGB2;PCDHGB3;PCDHGB4;PCDHGB5;PCDHGB6;PCDHGB7;PCDHGC3;PCDHGC4;PCDHGC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141024104,141024104,C,T,R007_S,FCHSD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCHSD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141049472,141049472,C,T,R007_S,ARAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141307669,141307669,G,A,R007_S,DELE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DELE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,142152448,142152448,C,T,R007_S,ARHGAP26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145524010,145524010,C,T,R007_S,LARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145971799,145971799,C,T,R007_S,PPP2R2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147003325,147003325,G,A,R007_S,JAKMIP2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,JAKMIP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148563171,148563171,C,T,R007_S,ABLIM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABLIM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148639206,148639206,C,T,R007_S,ABLIM3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ABLIM3,NM_001301018:c.*1239C>T;NM_001345858:c.*1239C>T;NM_001345859:c.*1239C>T;NM_001345860:c.*1239C>T;NM_014945:c.*1239C>T;NM_001301015:c.*1239C>T;NM_001301028:c.*68C>T;NM_001345861:c.*1239C>T;NM_001370417:c.*1239C>T;NM_001370418:c.*1239C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149379757,149379757,C,T,R007_S,TIGD6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TIGD6,NM_001243253:c.-3846G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149513148,149513148,C,T,R007_S,PDGFRB,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PDGFRB,NM_002609:exon6:c.934+1G>A;NM_001355016:exon5:c.742+1G>A;NM_001355017:exon6:c.451+1G>A,NA,NA,.,.,D,.,.,.
chr5,149562477,149562477,G,A,R007_S,CDX1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CDX1,NM_001804:exon2:c.591+1G>A,NA,NA,.,.,D,.,.,.
chr5,149597030,149597030,C,T,R007_S,SLC6A7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC6A7;CAMK2A,dist=6404;dist=1917,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149631429,149631429,C,T,R007_S,CAMK2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149749250,149749250,G,A,R007_S,TCOF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCOF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149754476,149754476,C,T,R007_S,TCOF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCOF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149762545,149762545,G,A,R007_S,TCOF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCOF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149781913,149781913,C,T,R007_S,CD74,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD74,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150051491,150051491,C,T,R007_S,MYOZ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOZ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150051832,150051832,G,A,R007_S,MYOZ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOZ3,NA,NA,NA,.,.,N,.,D,T
chr5,150076272,150076272,G,A,R007_S,RBM22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150404894,150404894,G,A,R007_S,GPX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150409805,150409805,C,T,R007_S,TNIP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNIP1,NM_001258455:c.*469G>A;NM_001258456:c.*420G>A;NM_001252385:c.*537G>A;NM_001252393:c.*398G>A;NM_001252386:c.*469G>A;NM_001258454:c.*469G>A;NM_001364486:c.*398G>A;NM_001364487:c.*469G>A;NM_001252390:c.*469G>A;NM_001252392:c.*398G>A;NM_001252391:c.*469G>A;NM_006058:c.*469G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150431676,150431676,C,T,R007_S,TNIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150639289,150639289,C,T,R007_S,GM2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GM2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150701545,150701545,G,A,R007_S,SLC36A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC36A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,153078364,153078364,G,A,R007_S,GRIA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,153149626,153149626,C,T,R007_S,GRIA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,153390761,153390761,C,T,R007_S,FAM114A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM114A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,153760207,153760207,C,T,R007_S,GALNT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156768180,156768180,C,T,R007_S,CYFIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156811172,156811172,C,T,R007_S,LOC102724404,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724404,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156887472,156887472,G,A,R007_S,NIPAL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPAL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,158634559,158634559,A,G,R007_S,RNF145,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RNF145,NM_001199382:c.-74T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr5,159665818,159665818,C,T,R007_S,FABP6,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,FABP6,dist=89,NA,NA,NA,NA,NA,NA,NA,NA
chr5,159686844,159686844,C,T,R007_S,CCNJL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNJL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,162930396,162930396,G,A,R007_S,MAT2B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MAT2B,NM_182796:c.-5G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,162945124,162945124,G,A,R007_S,MAT2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAT2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167303318,167303318,G,A,R007_S,TENM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167719311,167719311,C,T,R007_S,WWC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167857261,167857261,C,T,R007_S,WWC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167871359,167871359,G,A,R007_S,WWC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167927726,167927726,G,A,R007_S,RARS,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RARS,NM_002887:exon8:c.952+1G>A,NA,NA,.,.,D,.,.,.
chr5,168098537,168098537,C,T,R007_S,SLIT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,168135223,168135223,C,T,R007_S,LOC101927969,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927969,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,168180205,168180205,C,T,R007_S,SLIT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169423173,169423173,G,A,R007_S,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169469150,169469150,G,A,R007_S,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169684997,169684997,C,T,R007_S,LCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,171297918,171297918,C,T,R007_S,FBXW11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXW11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,171472439,171472439,G,A,R007_S,STK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,171509610,171509610,C,T,R007_S,STK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,175763895,175763895,C,T,R007_S,SIMC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176017501,176017501,G,A,R007_S,CDHR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176017542,176017542,C,T,R007_S,CDHR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176019683,176019683,C,T,R007_S,CDHR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176296691,176296691,C,T,R007_S,UNC5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176315895,176315895,C,T,R007_S,HK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176785022,176785022,C,T,R007_S,RGS14,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RGS14,NM_001366618:c.-4C>T;NM_001366617:c.-4C>T;NM_006480:c.-4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176795360,176795360,C,T,R007_S,RGS14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176795925,176795925,G,A,R007_S,RGS14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176830198,176830198,C,T,R007_S,F12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176832704,176832704,C,T,R007_S,F12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176936765,176936765,G,A,R007_S,DOK3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DOK3,NM_001308236:c.-224C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176939234,176939234,G,A,R007_S,DDX41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177421091,177421091,G,A,R007_S,PROP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178030823,178030823,C,T,R007_S,CLK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178358250,178358250,G,A,R007_S,ZFP2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZFP2,NM_030613:c.-65G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178418424,178418424,C,T,R007_S,GRM6,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GRM6,NM_000843:exon4:c.857+1G>A,NA,NA,.,.,D,.,.,.
chr5,179159744,179159744,C,T,R007_S,MAML1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MAML1,dist=79,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179224989,179224989,C,T,R007_S,MGAT4B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MGAT4B,NM_054013:c.*56G>A;NM_014275:c.*56G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179226700,179226700,C,T,R007_S,MGAT4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAT4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179248414,179248414,G,A,R007_S,SQSTM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SQSTM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179287480,179287480,G,A,R007_S,LOC100996419,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100996419,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179675052,179675052,C,T,R007_S,MAPK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180275789,180275789,C,T,R007_S,ZFP62,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZFP62,NM_001172638:c.*3G>A;NM_152283:c.*3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180650960,180650960,C,T,R007_S,TRIM41,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TRIM41,NM_033549:c.-40C>T;NM_201627:c.-40C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180670163,180670163,G,A,R007_S,RACK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RACK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180674197,180674197,G,A,R007_S,CTC-338M12.4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CTC-338M12.4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,549333,549333,C,T,R007_S,EXOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,1624331,1624331,C,T,R007_S,GMDS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GMDS,NM_001253846:c.*73G>A;NM_001500:c.*73G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,2685710,2685710,G,A,R007_S,MYLK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYLK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,2779739,2779739,C,T,R007_S,WRNIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WRNIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,3273210,3273210,G,A,R007_S,SLC22A23,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC22A23,NM_021945:c.*79C>T;NM_001286455:c.*79C>T;NM_015482:c.*79C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,3410403,3410403,C,T,R007_S,SLC22A23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,3410411,3410411,C,T,R007_S,SLC22A23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,4077674,4077674,C,T,R007_S,FAM217A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM217A,NM_173563:c.-26G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,4084807,4084807,C,T,R007_S,C6orf201,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C6orf201,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,4716222,4716222,C,T,R007_S,CDYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,4936044,4936044,C,T,R007_S,CDYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,7727964,7727964,G,A,R007_S,BMP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,8062893,8062893,G,A,R007_S,BLOC1S5-TXNDC5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BLOC1S5-TXNDC5;EEF1E1-BLOC1S5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,9673282,9673282,C,T,R007_S,LOC100506207,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100506207;TFAP2A,dist=887604;dist=723628,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10931612,10931612,G,A,R007_S,SYCP2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,11190185,11190185,C,T,R007_S,NEDD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEDD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13273069,13273069,C,T,R007_S,PHACTR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHACTR1;TBC1D7-LOC100130357,NA,NA,NA,T,.,D,.,N,T
chr6,13615887,13615887,C,T,R007_S,NOL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13616088,13616088,G,A,R007_S,NOL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,15508736,15508736,C,T,R007_S,JARID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JARID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17849561,17849561,C,T,R007_S,KIF13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,18205758,18205758,C,T,R007_S,KDM1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,18208265,18208265,G,A,R007_S,KDM1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,22146979,22146979,C,T,R007_S,NBAT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,NBAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26431254,26431254,C,T,R007_S,BTN2A3P,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,BTN2A3P,dist=438,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26465364,26465364,C,T,R007_S,BTN2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTN2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27100063,27100063,G,A,R007_S,HIST1H2AG,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,HIST1H2AG;HIST1H2BJ,dist=32;dist=32,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27107078,27107078,C,T,R007_S,HIST1H2BK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIST1H2BK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27819822,27819822,C,T,R007_S,HIST1H2BN,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HIST1H2BN;HIST1H2AL,dist=12934;dist=13285,NA,NA,NA,NA,NA,NA,NA,NA
chr6,32288081,32288081,G,A,R007_S,TSBP1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TSBP1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,32610639,32610639,G,A,R007_S,HLA-DQA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLA-DQA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33554500,33554500,C,T,R007_S,GGNBP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GGNBP1;LINC00336,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33630938,33630938,G,A,R007_S,ITPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33636457,33636457,C,T,R007_S,ITPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33648105,33648105,G,A,R007_S,ITPR3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ITPR3,NM_002224:exon32:c.4225-1G>A,NA,NA,.,.,D,.,.,.
chr6,33967878,33967878,G,A,R007_S,MIR1275,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR1275,dist=50,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35051832,35051832,C,T,R007_S,ANKS1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKS1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35258209,35258209,C,T,R007_S,ZNF76,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF76,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35454471,35454471,C,T,R007_S,TEAD3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TEAD3,NM_003214:c.-32G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35547800,35547800,G,A,R007_S,FKBP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FKBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35810278,35810278,C,T,R007_S,SRPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36107180,36107180,G,A,R007_S,MAPK13,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAPK13,NM_002754:c.*30G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36259074,36259074,C,T,R007_S,PNPLA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36261881,36261881,C,T,R007_S,PNPLA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36288931,36288931,C,T,R007_S,BNIP5,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,BNIP5,NM_001010903:exon10:c.1668+1G>A,NA,NA,.,.,D,.,.,.
chr6,36334571,36334571,C,T,R007_S,ETV7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36711589,36711589,C,T,R007_S,CPNE5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36730580,36730580,C,T,R007_S,CPNE5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36762510,36762510,C,T,R007_S,CPNE5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36790682,36790682,G,A,R007_S,CPNE5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36839662,36839662,G,A,R007_S,C6orf89,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C6orf89,NM_001286636:c.-30464G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36976900,36976900,C,T,R007_S,FGD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,37625933,37625933,C,T,R007_S,MDGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,37631949,37631949,C,T,R007_S,MDGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,38143019,38143019,C,A,R007_S,BTBD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTBD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,39551245,39551245,C,T,R007_S,KIF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF6,NA,NA,NA,T,.,N,T,N,T
chr6,39832081,39832081,C,T,R007_S,DAAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41034983,41034983,C,T,R007_S,OARD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OARD1,NM_001329686:c.*91G>A;NM_001329692:c.*176G>A;NM_001329693:c.*176G>A;NM_001329694:c.*144G>A;NM_001329695:c.*144G>A;NM_001329696:c.*144G>A;NM_001329691:c.*176G>A;NM_145063:c.*91G>A;NM_001329689:c.*91G>A;NM_001329690:c.*176G>A;NM_001329688:c.*91G>A;NM_001329685:c.*91G>A;NM_001329684:c.*91G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41048508,41048508,C,T,R007_S,NFYA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYA;OARD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41057272,41057272,C,T,R007_S,NFYA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYA;OARD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41062266,41062266,C,T,R007_S,NFYA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYA;OARD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41100399,41100399,G,A,R007_S,ADCY10P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ADCY10P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41126610,41126610,C,T,R007_S,TREM2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TREM2,NM_018965:exon4:c.676+1G>A,NA,NA,.,.,D,.,.,.
chr6,41160295,41160295,C,T,R007_S,TREML2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TREML2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42016403,42016403,C,T,R007_S,CCND3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCND3,NM_001136126:c.-111984G>A;NM_001136017:c.-108125G>A;NM_001287434:c.-111984G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42096706,42096706,G,A,R007_S,C6orf132,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C6orf132,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42226058,42226058,C,T,R007_S,TRERF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRERF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42531974,42531974,G,A,R007_S,UBR2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,UBR2,NM_015255:c.-84G>A;NM_001363705:c.-84G>A;NM_001184801:c.-84G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42559979,42559979,C,T,R007_S,UBR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42934438,42934438,C,T,R007_S,PEX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42941634,42941634,C,T,R007_S,PEX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42976780,42976780,C,T,R007_S,PPP2R5D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43038429,43038429,G,A,R007_S,KLC4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KLC4,NM_201521:exon8:c.982-1G>A;NM_001289035:exon7:c.751-1G>A;NM_201523:exon8:c.1036-1G>A;NM_201522:exon9:c.982-1G>A;NM_001289034:exon8:c.982-1G>A,NA,NA,.,.,D,.,.,.
chr6,43127502,43127502,C,T,R007_S,PTK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43182725,43182725,G,A,R007_S,CUL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43267284,43267284,C,T,R007_S,SLC22A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43267611,43267611,C,T,R007_S,SLC22A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43417123,43417123,C,T,R007_S,ABCC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43480153,43480153,C,T,R007_S,YIPF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YIPF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43594621,43594621,C,T,R007_S,GTPBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44121799,44121799,C,T,R007_S,TMEM63B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM63B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44221909,44221909,C,T,R007_S,SLC35B2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC35B2,NM_001286520:c.*534G>A;NM_178148:c.*534G>A;NM_001286509:c.*534G>A;NM_001286517:c.*534G>A;NM_001286510:c.*534G>A;NM_001286512:c.*534G>A;NM_001286513:c.*534G>A;NM_001286519:c.*534G>A;NM_001286511:c.*534G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44226856,44226856,C,T,R007_S,NFKBIE,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NFKBIE,NM_004556:c.*100G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44268186,44268186,C,T,R007_S,AARS2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AARS2,NM_020745:c.*98G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,45916844,45916844,C,T,R007_S,CLIC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,46190714,46190714,C,T,R007_S,RCAN2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RCAN2,NM_001251974:c.*164G>A;NM_001251973:c.*164G>A;NM_005822:c.*164G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,46424374,46424374,G,A,R007_S,RCAN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCAN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47624441,47624441,C,T,R007_S,ADGRF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47684451,47684451,C,T,R007_S,ADGRF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47754412,47754412,C,T,R007_S,OPN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,50789911,50789911,C,T,R007_S,TFAP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFAP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51656264,51656264,C,T,R007_S,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,53409293,53409293,C,T,R007_S,GCLC,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GCLC,NM_001197115:exon1:c.150+1G>A;NM_001498:exon1:c.150+1G>A,NA,NA,.,.,D,.,.,.
chr6,55929317,55929317,C,T,R007_S,COL21A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL21A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56351828,56351828,C,T,R007_S,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56557382,56557382,G,A,R007_S,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,64776208,64776208,C,T,R007_S,EYS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70506801,70506801,G,A,R007_S,LMBRD1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LMBRD1,NM_018368:c.-28C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70778266,70778266,C,T,R007_S,COL19A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL19A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70894820,70894820,C,T,R007_S,COL19A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL19A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,72962448,72962448,C,T,R007_S,RIMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,72984027,72984027,C,T,R007_S,RIMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,73821027,73821027,C,T,R007_S,KCNQ5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,73839484,73839484,G,A,R007_S,KCNQ5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,73952291,73952291,G,A,R007_S,KHDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KHDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,74104608,74104608,G,A,R007_S,DDX43,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DDX43,NM_018665:c.-21G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,74432966,74432966,C,T,R007_S,CD109,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD109,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,75795218,75795218,C,T,R007_S,COL12A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,COL12A1,NM_004370:c.*1045G>A;NM_080645:c.*1045G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,83900852,83900852,C,T,R007_S,PGM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84302863,84302863,G,A,R007_S,SNAP91,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNAP91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84936228,84936228,C,T,R007_S,CEP162,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP162,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88231287,88231287,G,A,R007_S,RARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,89323940,89323940,C,T,R007_S,RNGTT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNGTT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,97694476,97694476,C,T,R007_S,MMS22L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMS22L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,97720846,97720846,C,T,R007_S,MMS22L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMS22L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,100898242,100898242,C,T,R007_S,SIM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,102337747,102337747,C,T,R007_S,GRIK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105585622,105585622,C,T,R007_S,BVES-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,BVES-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,106554242,106554242,C,T,R007_S,PRDM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,106554768,106554768,C,T,R007_S,PRDM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,108616225,108616225,C,T,R007_S,AFG1L,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,AFG1L,dist=33,NA,NA,NA,NA,NA,NA,NA,NA
chr6,108616497,108616497,C,T,R007_S,AFG1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFG1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109330518,109330518,C,T,R007_S,SESN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SESN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109761604,109761604,G,A,R007_S,PPIL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109850181,109850181,C,T,R007_S,AK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,114265431,114265431,G,A,R007_S,HDAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,116690944,116690944,C,T,R007_S,LOC100287467,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100287467,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,116866748,116866748,C,T,R007_S,TRAPPC3L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TRAPPC3L,NM_001139444:c.-71G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117086481,117086481,C,T,R007_S,FAM162B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM162B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,119282912,119282912,G,A,R007_S,FAM184A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM184A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,122792805,122792805,C,T,R007_S,SERINC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123673667,123673667,C,T,R007_S,TRDN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRDN,NM_001251987:c.*3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,125233407,125233407,C,T,R007_S,RNF217-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RNF217-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,129635724,129635724,C,T,R007_S,LAMA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,129796570,129796570,C,T,R007_S,LAMA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,129796649,129796649,C,T,R007_S,LAMA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,130182184,130182184,C,T,R007_S,TMEM244,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM244,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,130378543,130378543,C,T,R007_S,L3MBTL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,L3MBTL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,130387489,130387489,C,T,R007_S,L3MBTL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,L3MBTL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,132859422,132859422,G,A,R007_S,TAAR9,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TAAR9,dist=5,NA,NA,NA,NA,NA,NA,NA,NA
chr6,133119544,133119544,C,T,R007_S,SLC18B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC18B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,133767764,133767764,C,T,R007_S,EYA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,134212941,134212941,C,T,R007_S,TCF21,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TCF21,NM_198392:c.*1C>T;NM_003206:c.*1C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136682328,136682328,A,G,R007_S,MAP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,137112807,137112807,G,A,R007_S,MAP3K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,137143685,137143685,C,T,R007_S,PEX7,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PEX7,dist=45,NA,NA,NA,NA,NA,NA,NA,NA
chr6,137234731,137234731,C,T,R007_S,PEX7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PEX7,NM_000288:c.*67C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,139013634,139013634,C,T,R007_S,FLJ46906,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FLJ46906,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,143771656,143771656,G,A,R007_S,ADAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,143823470,143823470,G,A,R007_S,FUCA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUCA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144033076,144033076,C,T,R007_S,PHACTR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHACTR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,145148403,145148403,C,T,R007_S,UTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,149944480,149944480,C,T,R007_S,KATNA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KATNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,149997357,149997357,C,T,R007_S,LATS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LATS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,150205538,150205538,C,T,R007_S,RAET1E-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RAET1E-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,150240112,150240112,G,A,R007_S,RAET1E-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RAET1E-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,150322268,150322268,C,T,R007_S,RAET1K,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RAET1K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,151197352,151197352,C,T,R007_S,MTHFD1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTHFD1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152489126,152489126,C,T,R007_S,MIR3163,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR3163,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,154428786,154428786,C,T,R007_S,OPRM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OPRM1,NM_001145285:c.*30C>T;NM_001145286:c.*88C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,157495135,157495135,C,T,R007_S,ARID1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,158499341,158499341,C,T,R007_S,SYNJ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNJ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,159010824,159010824,C,T,R007_S,TMEM181,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM181,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,159421099,159421099,C,T,R007_S,RSPH3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RSPH3,NM_031924:c.-91G>A;NM_001346418:c.-91G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,159667913,159667913,C,T,R007_S,FNDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160199134,160199134,C,T,R007_S,ACAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160489264,160489264,G,A,R007_S,IGF2R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGF2R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160495023,160495023,C,T,R007_S,IGF2R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGF2R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160663461,160663461,C,T,R007_S,SLC22A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161020704,161020704,C,T,R007_S,LPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161582474,161582474,G,A,R007_S,AGPAT4-IT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AGPAT4-IT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,163483130,163483130,G,A,R007_S,PACRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,163836433,163836433,G,A,R007_S,QKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,167752123,167752123,C,T,R007_S,TTLL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168069953,168069953,C,T,R007_S,LINC02538,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02538,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168226989,168226989,C,T,R007_S,AFDN-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AFDN-DT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168319691,168319691,G,A,R007_S,AFDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168367089,168367089,C,T,R007_S,AFDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,169632385,169632385,G,T,R007_S,LOC101929523,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929523,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,170713733,170713733,C,T,R007_S,FAM120B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM120B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,821806,821806,C,T,R007_S,DNAAF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAAF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,855677,855677,C,T,R007_S,SUN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,887999,887999,G,A,R007_S,SUN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1008876,1008876,C,T,R007_S,COX19,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,COX19,NM_001031617:c.*138G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1062439,1062439,C,T,R007_S,C7orf50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C7orf50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1094806,1094806,C,T,R007_S,C7orf50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C7orf50;GPR146,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1535238,1535238,G,A,R007_S,INTS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1586585,1586585,C,T,R007_S,TMEM184A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM184A,NM_001097620:c.*3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2269809,2269809,G,A,R007_S,MAD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2433339,2433339,G,A,R007_S,EIF3B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,EIF3B;CHST12,dist=12962;dist=9907,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2579050,2579050,C,T,R007_S,BRAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2579388,2579388,G,T,R007_S,BRAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2579399,2579399,C,T,R007_S,BRAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2686990,2686990,G,A,R007_S,TTYH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTYH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2687587,2687587,C,T,R007_S,TTYH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTYH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2695644,2695644,G,A,R007_S,TTYH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTYH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2956912,2956912,G,A,R007_S,CARD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4214099,4214099,G,A,R007_S,SDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4267161,4267161,G,A,R007_S,SDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4285289,4285289,G,A,R007_S,SDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4824745,4824745,G,A,R007_S,AP5Z1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP5Z1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4901463,4901463,G,A,R007_S,PAPOLB,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PAPOLB,NM_020144:c.-22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5256872,5256872,G,A,R007_S,WIPI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WIPI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5460159,5460159,G,A,R007_S,TNRC18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNRC18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5541680,5541680,G,A,R007_S,FBXL18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5567838,5567838,G,A,R007_S,ACTB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5692188,5692188,C,T,R007_S,RNF216,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF216,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6048793,6048793,C,T,R007_S,AIMP2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,AIMP2;PMS2,dist=83,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6548547,6548547,C,T,R007_S,GRID2IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRID2IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6647234,6647234,G,A,R007_S,C7orf26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C7orf26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6714875,6714875,C,T,R007_S,ZNF316,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF316;ZNF12,dist=16965;dist=13190,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6715788,6715788,G,A,R007_S,ZNF316,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF316;ZNF12,dist=17878;dist=12277,NA,NA,NA,NA,NA,NA,NA,NA
chr7,7471356,7471356,C,T,R007_S,COL28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,7480330,7480330,G,A,R007_S,COL28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,9767135,9767135,G,A,R007_S,PER4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PER4;MGC4859,dist=91688;dist=722312,NA,NA,NA,NA,NA,NA,NA,NA
chr7,16348132,16348132,G,A,R007_S,CRPPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRPPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,16834430,16834430,G,A,R007_S,AGR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,18833102,18833102,G,A,R007_S,HDAC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,19763842,19763842,G,A,R007_S,TMEM196,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM196,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21468538,21468538,G,A,R007_S,SP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21510798,21510798,G,A,R007_S,SP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21646373,21646373,C,T,R007_S,DNAH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21784218,21784218,G,A,R007_S,DNAH11,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DNAH11,NM_001277115:exon50:c.8316+1G>A,NA,NA,.,.,D,.,.,.
chr7,22179627,22179627,G,A,R007_S,RAPGEF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22202543,22202543,G,A,R007_S,RAPGEF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22242456,22242456,C,T,R007_S,RAPGEF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23224688,23224688,G,A,R007_S,NUP42,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NUP42,NM_007342:exon2:c.122-1G>A;NM_001370443:exon2:c.122-1G>A;NM_001370444:exon2:c.122-1G>A;NM_001370445:exon2:UTR5;NM_001370446:exon2:UTR5,NA,NA,.,.,D,.,.,.
chr7,23352093,23352093,G,A,R007_S,IGF2BP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGF2BP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23381848,23381848,G,A,R007_S,IGF2BP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGF2BP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23625604,23625604,G,A,R007_S,CLK2P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CLK2P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,24720296,24720296,C,T,R007_S,MPP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,26578030,26578030,G,A,R007_S,KIAA0087,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,KIAA0087;LOC441204,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27211473,27211473,G,A,R007_S,HOXA10-AS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HOXA10-AS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27954458,27954458,G,A,R007_S,JAZF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAZF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30008694,30008694,G,A,R007_S,SCRN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCRN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30009339,30009339,G,A,R007_S,SCRN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCRN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30129768,30129768,G,A,R007_S,PLEKHA8,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PLEKHA8,NM_032639:exon13:c.1301-1G>A,NA,NA,.,.,N,.,.,.
chr7,30324727,30324727,G,A,R007_S,LOC105375218,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105375218,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30666777,30666777,G,A,R007_S,GARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30728433,30728433,G,A,R007_S,CRHR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRHR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30728566,30728566,G,A,R007_S,CRHR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRHR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,31104388,31104388,G,A,R007_S,ADCYAP1R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCYAP1R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,31120155,31120155,G,A,R007_S,ADCYAP1R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCYAP1R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,31594533,31594533,G,A,R007_S,ITPRID1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPRID1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32091244,32091244,G,A,R007_S,PDE1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32249027,32249027,C,T,R007_S,PDE1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,33035715,33035715,G,A,R007_S,FKBP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FKBP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,36698877,36698877,G,A,R007_S,AOAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AOAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38503706,38503706,G,A,R007_S,AMPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38870808,38870808,G,A,R007_S,VPS41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38937651,38937651,G,A,R007_S,VPS41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,40174174,40174174,G,A,R007_S,MPLKIP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MPLKIP,NM_138701:c.-8C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,42063270,42063270,G,A,R007_S,GLI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43594476,43594476,G,A,R007_S,HECW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43601552,43601552,C,T,R007_S,HECW1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HECW1,NM_001287059:c.*27C>T;NM_015052:c.*27C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44097953,44097953,G,A,R007_S,DBNL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBNL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44104615,44104615,G,A,R007_S,DBNL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DBNL,NM_001014436:c.*4100G>A;NM_001362723:c.*4100G>A;NM_014063:c.*4100G>A;NM_001122956:c.*4100G>A;NM_001284313:c.*4100G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44113188,44113188,G,A,R007_S,POLM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44113964,44113964,G,A,R007_S,POLM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44118472,44118472,G,A,R007_S,POLM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44147189,44147189,G,A,R007_S,AEBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AEBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44180047,44180047,G,A,R007_S,MYL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYL7,NA,NA,NA,T,.,N,T,N,T
chr7,44260418,44260418,G,A,R007_S,CAMK2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44443992,44443992,G,A,R007_S,NUDCD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDCD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44611014,44611014,G,A,R007_S,DDX56,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX56,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44620970,44620970,G,A,R007_S,TMED4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMED4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44800194,44800194,T,C,R007_S,ZMIZ2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZMIZ2,NM_001300959:exon8:c.1066+2T>C;NM_031449:exon9:c.1240+2T>C;NM_174929:exon7:c.1162+2T>C,NA,NA,.,.,D,.,.,.
chr7,44805684,44805684,C,A,R007_S,ZMIZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMIZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44805701,44805701,G,A,R007_S,ZMIZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMIZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45016145,45016145,C,T,R007_S,MYO1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45018629,45018629,G,A,R007_S,MYO1G,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MYO1G,dist=15,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45144694,45144694,C,T,R007_S,TBRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45145773,45145773,G,A,R007_S,TBRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45151111,45151111,C,T,R007_S,TBRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45632245,45632245,G,A,R007_S,ADCY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45726121,45726121,G,A,R007_S,ADCY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47520810,47520810,G,A,R007_S,TNS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47546526,47546526,G,A,R007_S,TNS3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TNS3,NM_022748:c.-67292C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47874102,47874102,C,T,R007_S,PKD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47886432,47886432,G,A,R007_S,PKD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48033807,48033807,G,A,R007_S,SUN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50367541,50367541,G,A,R007_S,IKZF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IKZF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50671683,50671683,G,A,R007_S,GRB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,51150645,51150645,G,A,R007_S,COBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,54614613,54614613,G,A,R007_S,VSTM2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56151547,56151547,A,G,R007_S,PHKG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHKG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56151562,56151562,G,A,R007_S,PHKG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHKG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56297209,56297209,G,A,R007_S,NUPR2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NUPR2;LOC650226,dist=113099;dist=194188,NA,NA,NA,NA,NA,NA,NA,NA
chr7,57069903,57069903,G,A,R007_S,MIR4283-1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4283-1;ZNF479,dist=46332;dist=117423,NA,NA,NA,NA,NA,NA,NA,NA
chr7,62758752,62758752,C,T,R007_S,ZNF733P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ZNF733P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63506149,63506149,G,A,R007_S,ZNF727,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF727,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,65547848,65547848,G,A,R007_S,ASL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,65551697,65551697,C,T,R007_S,ASL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,66104298,66104298,G,A,R007_S,KCTD7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KCTD7,NM_153033:c.*79G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,66773652,66773652,G,A,R007_S,STAG3L4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,STAG3L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72419142,72419142,G,A,R007_S,NSUN5P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NSUN5P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72745827,72745827,C,T,R007_S,FKBP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FKBP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73008321,73008321,G,A,R007_S,MLXIPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLXIPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73084177,73084177,C,T,R007_S,VPS37D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS37D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73108176,73108176,G,A,R007_S,BUD23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BUD23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73117695,73117695,C,T,R007_S,STX1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STX1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73243754,73243754,G,A,R007_S,CLDN3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CLDN3;CLDN4,dist=59154;dist=1439,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73634972,73634972,G,A,R007_S,LAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73953177,73953177,C,T,R007_S,GTF2IRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2IRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73959217,73959217,G,A,R007_S,GTF2IRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2IRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75187360,75187360,C,T,R007_S,HIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75228497,75228497,G,A,R007_S,HIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75510697,75510697,G,A,R007_S,RHBDD2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RHBDD2,NM_001346186:c.-695G>A;NM_001040457:c.-695G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75510892,75510892,C,T,R007_S,RHBDD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75511121,75511121,G,A,R007_S,RHBDD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75611693,75611693,C,T,R007_S,POR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,79082668,79082668,C,T,R007_S,MAGI2-AS3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MAGI2-AS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,80295965,80295965,G,A,R007_S,CD36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,81641456,81641456,G,A,R007_S,LOC101927356,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927356,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,83277734,83277734,G,A,R007_S,SEMA3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,86542553,86542553,C,T,R007_S,KIAA1324L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1324L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87811348,87811348,G,A,R007_S,ADAM22,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADAM22,NM_004194:c.*5G>A;NM_021721:c.*5G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,91771690,91771690,G,A,R007_S,CYP51A1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CYP51A1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92161951,92161951,G,A,R007_S,RBM48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94053763,94053763,C,T,R007_S,COL1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94285431,94285431,C,T,R007_S,SGCE,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SGCE,NM_001362807:c.-16757G>A;NM_001099400:c.-21G>A;NM_001099401:c.-21G>A;NM_001362809:c.-21G>A;NM_001346713:c.-21G>A;NM_003919:c.-21G>A;NM_001346720:c.-27801G>A;NM_001346719:c.-16757G>A;NM_001301139:c.-21G>A;NM_001362808:c.-27801G>A;NM_001346717:c.-21G>A;NM_001346715:c.-21G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95457297,95457297,G,A,R007_S,DYNC1I1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1I1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95848983,95848983,G,A,R007_S,MIR591,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR591,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,96650039,96650039,G,A,R007_S,DLX5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DLX5,NM_005221:c.*9C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,97853060,97853060,C,T,R007_S,TECPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TECPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,97920610,97920610,G,A,R007_S,BRI3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BRI3,NM_015379:c.*55G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98576131,98576131,G,A,R007_S,TRRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98588247,98588247,G,A,R007_S,TRRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98589855,98589855,G,A,R007_S,TRRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98639949,98639949,C,T,R007_S,SMURF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMURF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98985885,98985885,G,A,R007_S,ARPC1B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ARPC1B,NM_005720:exon4:c.392+1G>A,NA,NA,.,.,D,.,.,.
chr7,99264498,99264498,G,A,R007_S,CYP3A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP3A5;ZSCAN25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99501417,99501417,C,T,R007_S,TRIM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99688378,99688378,G,A,R007_S,COPS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99697626,99697626,C,T,R007_S,MCM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99701182,99701182,G,A,R007_S,AP4M1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP4M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99702590,99702590,G,A,R007_S,AP4M1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP4M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99751349,99751349,C,T,R007_S,LAMTOR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMTOR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99754925,99754925,C,T,R007_S,MAP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP11,NA,NA,NA,D,.,N,T,N,T
chr7,99767743,99767743,C,T,R007_S,GPC2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPC2,NM_152742:c.*110G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99783925,99783925,G,A,R007_S,STAG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99787014,99787014,C,T,R007_S,STAG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99798257,99798257,C,T,R007_S,STAG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99801626,99801626,C,T,R007_S,CASTOR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASTOR3;STAG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99995698,99995698,G,A,R007_S,PILRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PILRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100193002,100193002,G,A,R007_S,PCOLCE-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PCOLCE-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100252937,100252937,C,T,R007_S,ACTL6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTL6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100331770,100331770,G,A,R007_S,ZAN,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZAN,NM_003386:c.-22G>A;NM_173059:c.-22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100345907,100345907,G,A,R007_S,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100350874,100350874,G,A,R007_S,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100355971,100355971,G,A,R007_S,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100366131,100366131,G,A,R007_S,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100374039,100374039,G,A,R007_S,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100465417,100465417,C,T,R007_S,TRIP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100465648,100465648,C,T,R007_S,TRIP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100779098,100779098,G,A,R007_S,SERPINE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100853456,100853456,G,A,R007_S,PLOD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLOD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100855030,100855030,C,T,R007_S,PLOD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLOD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100861543,100861543,G,A,R007_S,ZNHIT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNHIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100877524,100877524,G,A,R007_S,CLDN15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLDN15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100883018,100883018,G,A,R007_S,FIS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FIS1,NM_016068:c.*69C>T,NA,NA,.,.,N,.,D,T
chr7,100884080,100884080,G,A,R007_S,FIS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FIS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,101961045,101961045,G,A,R007_S,SH2B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103251297,103251297,C,T,R007_S,RELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103474150,103474150,G,A,R007_S,RELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104704364,104704364,G,A,R007_S,KMT2E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104846040,104846040,C,T,R007_S,SRPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105222001,105222001,C,T,R007_S,EFCAB10,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,EFCAB10,dist=12,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105258515,105258515,C,T,R007_S,ATXN7L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN7L1,NA,NA,NA,T,.,D,T,N,T
chr7,105258534,105258534,G,A,R007_S,ATXN7L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN7L1,NA,NA,NA,D,.,D,T,N,T
chr7,106519956,106519956,C,T,R007_S,PIK3CG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,106809485,106809485,G,A,R007_S,HBP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HBP1,NM_012257:c.-10854G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107570198,107570198,G,A,R007_S,LAMB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107642259,107642259,G,A,R007_S,LAMB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB1,NA,NA,NA,D,.,N,T,N,T
chr7,107704460,107704460,G,A,R007_S,LAMB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111375067,111375067,G,A,R007_S,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111846762,111846762,C,T,R007_S,ZNF277,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF277,NM_021994:c.-10C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,116199428,116199428,G,A,R007_S,CAV1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAV1,NM_001172895:c.*87G>A;NM_001753:c.*87G>A;NM_001172897:c.*87G>A;NM_001172896:c.*87G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,116381096,116381096,G,A,R007_S,MET,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MET,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,117364987,117364987,C,T,R007_S,CTTNBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTTNBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,120906534,120906534,C,T,R007_S,CPED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122049810,122049810,G,A,R007_S,CADPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122269398,122269398,G,A,R007_S,CADPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122303253,122303253,G,A,R007_S,CADPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127031466,127031466,G,A,R007_S,ZNF800,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF800,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128097311,128097311,G,A,R007_S,HILPDA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HILPDA,NM_001098786:c.-12G>A;NM_013332:c.-12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128133809,128133809,G,A,R007_S,METTL2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128446913,128446913,G,A,R007_S,CCDC136,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CCDC136,NM_001363424:exon10:c.1533+1G>A;NM_001363423:exon10:c.1569+1G>A;NM_001367762:exon10:c.1533+1G>A;NM_001367763:exon10:c.1569+1G>A;NM_001367764:exon10:c.1569+1G>A;NM_001367765:exon10:c.1419+1G>A;NM_022742:exon9:c.1419+1G>A,NA,NA,.,.,D,.,.,.
chr7,128471056,128471056,G,A,R007_S,FLNC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLNC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128477868,128477868,G,A,R007_S,FLNC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLNC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128478653,128478653,G,A,R007_S,FLNC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLNC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128493926,128493926,G,A,R007_S,FLNC-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FLNC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128494761,128494761,G,A,R007_S,FLNC-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FLNC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128523995,128523995,G,A,R007_S,KCP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128527139,128527139,G,A,R007_S,KCP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128530245,128530245,G,A,R007_S,KCP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KCP,NM_199349:c.*42C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128806600,128806600,C,T,R007_S,TSPAN33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129066264,129066264,G,A,R007_S,AHCYL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHCYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129079764,129079764,G,A,R007_S,STRIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129414718,129414718,G,A,R007_S,MIR96,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR96;MIR183,dist=109;dist=27,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129939321,129939321,G,A,R007_S,CPA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130001127,130001127,G,A,R007_S,CPA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130003388,130003388,G,A,R007_S,CPA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130061746,130061746,G,A,R007_S,CEP41,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CEP41,NM_001257160:c.*35C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130148264,130148264,C,T,R007_S,COPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130368598,130368598,G,A,R007_S,TSGA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSGA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,131864717,131864717,G,A,R007_S,PLXNA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,132709525,132709525,C,T,R007_S,CHCHD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHCHD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134135756,134135756,C,T,R007_S,AKR1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134264360,134264360,G,A,R007_S,AKR1B15,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AKR1B15,NM_001367820:c.*59G>A;NM_001080538:c.*59G>A;NM_001367821:c.*59G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,136701068,136701068,G,A,R007_S,LOC349160,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC349160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137154397,137154397,C,T,R007_S,DGKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137266702,137266702,A,T,R007_S,DGKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137270114,137270114,C,T,R007_S,DGKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137801270,137801270,G,A,R007_S,AKR1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138482842,138482842,C,T,R007_S,ATP6V0A4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATP6V0A4;TMEM213,NM_020632:c.-26850G>A;NM_130840:c.-26850G>A;NM_001085429:c.-8C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139316551,139316551,C,T,R007_S,HIPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139421861,139421861,G,A,R007_S,HIPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140225639,140225639,G,A,R007_S,DENND2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140268536,140268536,G,A,R007_S,DENND2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140374161,140374161,C,T,R007_S,ADCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140389372,140389372,G,A,R007_S,ADCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140395670,140395670,G,T,R007_S,NDUFB2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,NDUFB2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141321493,141321493,C,T,R007_S,AGK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141352821,141352821,G,A,R007_S,AGK,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AGK,NM_018238:c.*97G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141536112,141536112,G,A,R007_S,PRSS37,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRSS37,NM_001008270:c.*83C>T;NM_001171951:c.*83C>T;NM_001370403:c.*83C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141760224,141760224,C,T,R007_S,MGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141875594,141875594,C,A,R007_S,MGAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141885939,141885939,G,A,R007_S,MGAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142008461,142008461,G,A,R007_S,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=36393;dist=148881,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142008936,142008936,G,A,R007_S,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=36868;dist=148406,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142013383,142013383,C,T,R007_S,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=41315;dist=143959,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142139448,142139448,C,T,R007_S,TRY2P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRY2P;MIR11400,dist=167380;dist=17894,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142168595,142168595,G,A,R007_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=11177;dist=205536,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142206400,142206400,C,T,R007_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=48982;dist=167731,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142210989,142210989,C,T,R007_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=53571;dist=163142,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142353692,142353692,G,A,R007_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=196274;dist=20439,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142448405,142448405,G,A,R007_S,MTRNR2L6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MTRNR2L6;PRSS1,dist=72880;dist=8918,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142568538,142568538,C,T,R007_S,EPHB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142611983,142611983,C,T,R007_S,TRPV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142626471,142626471,G,A,R007_S,TRPV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142627715,142627715,C,T,R007_S,TRPV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142658594,142658594,G,A,R007_S,KEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142723281,142723281,G,A,R007_S,OR9A2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR9A2,dist=6,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142961166,142961166,C,T,R007_S,LOC105375545,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105375545,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143021740,143021740,G,A,R007_S,CLCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143081082,143081082,G,A,R007_S,ZYX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZYX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143081105,143081105,G,A,R007_S,ZYX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZYX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143084647,143084647,G,A,R007_S,ZYX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZYX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143095380,143095380,G,A,R007_S,EPHA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143096632,143096632,G,A,R007_S,EPHA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148131526,148131526,C,T,R007_S,CNTNAP2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CNTNAP2;C7orf33,dist=13438;dist=156332,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148534104,148534104,G,A,R007_S,EZH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EZH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148863862,148863862,C,T,R007_S,ZNF398,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF398,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148909564,148909564,G,A,R007_S,ZNF282,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZNF282,NM_001303481:exon6:c.1066+1G>A;NM_003575:exon6:c.1066+1G>A,NA,NA,.,.,D,.,.,.
chr7,148978587,148978587,C,T,R007_S,ZNF783,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF783,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148989326,148989326,C,T,R007_S,LOC155060,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC155060,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148991275,148991275,C,T,R007_S,LOC155060,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC155060,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149171431,149171431,C,T,R007_S,ZNF746,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF746,NM_001363517:c.*44G>A;NM_152557:c.*44G>A;NM_001163474:c.*44G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149463336,149463336,G,A,R007_S,ZNF467,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF467,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149467655,149467655,G,A,R007_S,ZNF467,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF467,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149467710,149467710,G,A,R007_S,ZNF467,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF467,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149473242,149473242,C,T,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149482763,149482763,G,A,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,149485510,149485510,G,A,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,149486190,149486190,G,A,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149490595,149490595,G,A,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149492765,149492765,C,T,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149493414,149493414,C,T,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149509004,149509004,C,T,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,149509303,149509303,C,T,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149511916,149511916,G,A,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,149513634,149513634,C,T,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149521226,149521226,C,T,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149522112,149522112,G,A,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149523555,149523555,G,A,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149526094,149526094,G,A,R007_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150418147,150418147,G,A,R007_S,GIMAP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GIMAP1,NM_130759:c.*134G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150645638,150645638,C,T,R007_S,KCNH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150715362,150715362,C,T,R007_S,ATG9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150716583,150716583,C,T,R007_S,ATG9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150733871,150733871,G,A,R007_S,ABCB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150734116,150734116,G,A,R007_S,ABCB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150767192,150767192,G,A,R007_S,SLC4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150815562,150815562,G,A,R007_S,AGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150817337,150817337,G,A,R007_S,AGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150911137,150911137,G,A,R007_S,ABCF2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ABCF2,NM_007189:c.*3C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150913224,150913224,C,T,R007_S,ABCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCF2;LOC114483834,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150919598,150919598,C,T,R007_S,ABCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCF2;LOC114483834,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150919846,150919846,G,A,R007_S,ABCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCF2;LOC114483834,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150940793,150940793,C,T,R007_S,SMARCD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151130906,151130906,G,T,R007_S,CRYGN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYGN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151135370,151135370,C,T,R007_S,CRYGN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYGN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151137044,151137044,G,A,R007_S,CRYGN,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CRYGN,NM_144727:c.-41C>T;NM_001308292:c.-41C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151891486,151891486,G,A,R007_S,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152132883,152132883,G,A,R007_S,KMT2C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KMT2C,NM_170606:c.-12C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152142583,152142583,G,A,R007_S,FABP5P3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FABP5P3;LINC01003,dist=2483;dist=18626,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152497606,152497606,T,G,R007_S,ACTR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152549158,152549158,G,A,R007_S,ACTR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,153584605,153584605,G,A,R007_S,DPP6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DPP6,NM_001364501:c.-164G>A;NM_001039350:c.-164G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154677250,154677250,C,T,R007_S,DPP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154736051,154736051,C,T,R007_S,PAXIP1-AS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PAXIP1-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154782711,154782711,C,T,R007_S,PAXIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAXIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155090430,155090430,C,T,R007_S,INSIG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155095639,155095639,C,T,R007_S,INSIG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INSIG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155150666,155150666,G,A,R007_S,BLACE,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,BLACE,NA,NA,NA,.,.,.,.,D,T
chr7,155437558,155437558,C,T,R007_S,RBM33,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RBM33,NM_053043:c.-13C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,156432854,156432854,G,A,R007_S,LINC01006,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01006,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,156799159,156799159,G,A,R007_S,MNX1-AS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MNX1-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157156106,157156106,G,A,R007_S,DNAJB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157159328,157159328,C,T,R007_S,DNAJB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157159382,157159382,C,T,R007_S,DNAJB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157341808,157341808,G,A,R007_S,PTPRN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,158580653,158580653,C,T,R007_S,ESYT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESYT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,158622510,158622510,G,A,R007_S,ESYT2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ESYT2,dist=310,NA,NA,.,.,.,.,.,.
chr7,158723290,158723290,G,A,R007_S,WDR60,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR60,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,183225,183225,G,A,R007_S,ZNF596,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF596,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,2027782,2027782,C,T,R007_S,MYOM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,2965993,2965993,C,T,R007_S,CSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6794433,6794433,C,T,R007_S,DEFA4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DEFA4,NM_001925:c.-12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,7308645,7308645,C,T,R007_S,SPAG11B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SPAG11B,NM_058206:exon2:c.131+1G>A;NM_016512:exon3:c.290+1G>A,NA,NA,.,.,N,.,.,.
chr8,10479249,10479249,C,T,R007_S,RP1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RP1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10682950,10682950,T,C,R007_S,MIR1322,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR1322,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10683585,10683585,C,T,R007_S,PINX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PINX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11180418,11180418,C,T,R007_S,MTMR9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MTMR9,NM_015458:c.*121C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11416078,11416078,G,A,R007_S,BLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11637559,11637559,C,T,R007_S,NEIL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEIL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12272918,12272918,C,T,R007_S,FAM90A25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FAM90A25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17089847,17089847,G,A,R007_S,CNOT7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CNOT7,NM_001322089:c.*83C>T;NM_001322088:c.*83C>T;NM_001322100:c.*83C>T;NM_001322087:c.*83C>T;NM_001322098:c.*83C>T;NM_001322099:c.*83C>T;NM_054026:c.*83C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,19813692,19813692,G,A,R007_S,LPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21905794,21905794,C,T,R007_S,FGF17,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FGF17,NM_001304478:c.*34C>T;NM_003867:c.*34C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21939845,21939845,C,T,R007_S,DMTN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DMTN,NM_001323382:c.*871C>T;NM_001323397:c.*871C>T;NM_001114137:c.*871C>T;NM_001323383:c.*871C>T;NM_001323389:c.*871C>T;NM_001323390:c.*871C>T;NM_001323391:c.*871C>T;NM_001114136:c.*871C>T;NM_001114139:c.*871C>T;NM_001323378:c.*871C>T;NM_001323388:c.*871C>T;NM_001323384:c.*871C>T;NM_001323393:c.*871C>T;NM_001323398:c.*871C>T;NM_001323399:c.*871C>T;NM_001302817:c.*871C>T;NM_001323401:c.*871C>T;NM_001323395:c.*871C>T;NM_001323387:c.*871C>T;NM_001323380:c.*871C>T;NM_001323396:c.*871C>T;NM_001114135:c.*871C>T;NM_001978:c.*871C>T;NM_001114138:c.*871C>T;NM_001302816:c.*871C>T;NM_001323379:c.*871C>T;NM_001323392:c.*871C>T;NM_001323394:c.*871C>T;NM_001323400:c.*871C>T;NM_001323385:c.*871C>T;NM_001323381:c.*871C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21959469,21959469,C,T,R007_S,FAM160B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM160B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21960565,21960565,G,A,R007_S,FAM160B2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FAM160B2,NM_001354250:c.*123G>A;NM_001354251:c.*123G>A;NM_022749:c.*123G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21998058,21998058,C,T,R007_S,REEP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REEP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22078854,22078854,C,T,R007_S,PHYHIP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PHYHIP,NM_014759:c.*12G>A;NM_001099335:c.*12G>A;NM_001363312:c.*12G>A;NM_001363311:c.*12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22102637,22102637,C,T,R007_S,MIR320A,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR320A;POLR3D,dist=9,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22212854,22212854,G,A,R007_S,PIWIL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIWIL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22419230,22419230,C,T,R007_S,SORBS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORBS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22973179,22973179,C,T,R007_S,TNFRSF10C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF10C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,23560670,23560670,C,T,R007_S,NKX2-6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NKX2-6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25042480,25042480,C,T,R007_S,DOCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25253326,25253326,C,T,R007_S,DOCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27204594,27204594,C,T,R007_S,PTK2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27294816,27294816,G,A,R007_S,PTK2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27327209,27327209,G,A,R007_S,CHRNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27559219,27559219,C,T,R007_S,MIR3622A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR3622A;MIR3622B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,29196032,29196032,G,A,R007_S,DUSP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUSP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,29207873,29207873,G,A,R007_S,DUSP4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DUSP4,NM_001394:c.-78C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,33251835,33251835,C,T,R007_S,FUT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,33408979,33408979,C,T,R007_S,RNF122,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF122,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,37607870,37607870,C,T,R007_S,ERLIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERLIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,37732008,37732008,C,T,R007_S,RAB11FIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,37821649,37821649,G,A,R007_S,ADRB3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADRB3,NM_000025:c.*87C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38005706,38005706,C,T,R007_S,STAR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38110688,38110688,G,A,R007_S,DDHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38283510,38283510,G,A,R007_S,FGFR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGFR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38286985,38286985,C,T,R007_S,FGFR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGFR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38839317,38839317,G,A,R007_S,HTRA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTRA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39607106,39607106,G,A,R007_S,ADAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41548183,41548183,C,T,R007_S,ANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41550158,41550158,C,T,R007_S,ANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41838511,41838511,C,T,R007_S,KAT6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42151044,42151044,C,T,R007_S,IKBKB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IKBKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42229177,42229177,G,A,R007_S,POLB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,POLB,NM_002690:c.*2G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48114545,48114545,G,A,R007_S,LOC100287846,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100287846;SPIDR,dist=9660;dist=58925,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48749721,48749721,G,A,R007_S,PRKDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,49647751,49647751,G,A,R007_S,EFCAB1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EFCAB1,NM_001142857:c.-41C>T;NM_024593:c.-41C>T;NM_001363974:c.-41C>T;NM_001363973:c.-41C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,52320480,52320480,C,T,R007_S,PXDNL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXDNL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,52861041,52861041,C,T,R007_S,PCMTD1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PCMTD1;ST18,dist=49295;dist=162351,NA,NA,NA,NA,NA,NA,NA,NA
chr8,53597827,53597827,G,A,R007_S,RB1CC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RB1CC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,55055436,55055436,G,A,R007_S,MRPL15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,55667396,55667396,C,T,R007_S,RP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RP1;XKR4,dist=124002;dist=347192,NA,NA,NA,NA,NA,NA,NA,NA
chr8,61533387,61533387,C,T,R007_S,RAB2A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RAB2A,NM_001242644:c.*59C>T;NM_002865:c.*59C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67546724,67546724,C,T,R007_S,VCPIP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,VCPIP1,NM_025054:c.*12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67592007,67592007,C,T,R007_S,C8orf44,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C8orf44,NA,NA,NA,.,.,D,.,.,.
chr8,68965505,68965505,T,C,R007_S,PREX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,71056800,71056800,T,C,R007_S,NCOA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,71075678,71075678,C,T,R007_S,NCOA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,71581195,71581195,C,A,R007_S,LACTB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LACTB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,79717315,79717315,C,T,R007_S,IL7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,IL7,NM_001199886:c.-158G>A;NM_001199888:c.-158G>A;NM_001199887:c.-158G>A;NM_000880:c.-158G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86126408,86126408,G,A,R007_S,E2F5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,E2F5;RBIS,NM_001951:c.*311G>A;NM_001083588:c.*311G>A;NM_001083589:c.*311G>A;NM_001099673:c.*387C>T;NM_001099672:c.*387C>T;NM_001293320:c.*387C>T;NM_001099670:c.*387C>T;NM_001099671:c.*387C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,87480727,87480727,C,T,R007_S,WWP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WWP1,NM_007013:c.*1605C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,90971140,90971140,C,T,R007_S,NBN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,92406510,92406510,G,A,R007_S,SLC26A7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC26A7,NM_134266:c.*8G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95527077,95527077,C,T,R007_S,VIRMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIRMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95993245,95993245,G,A,R007_S,NDUFAF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFAF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,96264339,96264339,C,T,R007_S,C8orf37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C8orf37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,97316439,97316439,G,A,R007_S,PTDSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTDSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100882990,100882990,C,T,R007_S,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,102676774,102676774,C,T,R007_S,GRHL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRHL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,103841958,103841958,G,A,R007_S,AZIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AZIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,103876910,103876910,C,T,R007_S,AZIN1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,AZIN1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104210326,104210326,G,A,R007_S,BAALC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAALC,NA,NA,NA,.,.,N,.,.,.
chr8,113842025,113842025,G,A,R007_S,CSMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,114612562,114612562,C,T,R007_S,CSMD3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CSMD3;TRPS1,dist=163394;dist=1808162,NA,NA,NA,NA,NA,NA,NA,NA
chr8,117658856,117658856,G,A,R007_S,EIF3H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,117798682,117798682,G,A,R007_S,UTP23,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,UTP23;RAD21,dist=11761;dist=59491,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120606148,120606148,C,T,R007_S,ENPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121457296,121457296,G,A,R007_S,MRPL13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124228178,124228178,C,T,R007_S,MIR4663,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4663,dist=75,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124253697,124253697,G,A,R007_S,ZHX1-C8orf76,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZHX1-C8orf76,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125094773,125094773,C,T,R007_S,FER1L6-AS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FER1L6-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125589907,125589907,C,T,R007_S,MTSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,128099334,128099334,G,A,R007_S,PRNCR1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRNCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,130774846,130774846,G,A,R007_S,GSDMC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSDMC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131128910,131128910,C,T,R007_S,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131370426,131370426,G,A,R007_S,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131414115,131414115,G,A,R007_S,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133048579,133048579,G,A,R007_S,OC90,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OC90,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,134072684,134072684,G,A,R007_S,SLA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLA;TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,139180057,139180057,G,A,R007_S,FAM135B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM135B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,139255426,139255426,G,A,R007_S,FAM135B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM135B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,139845256,139845256,G,A,R007_S,COL22A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL22A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141669466,141669466,G,A,R007_S,PTK2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTK2,NM_001352735:c.*99C>T;NM_001352741:c.*99C>T;NM_001352740:c.*99C>T;NM_001352747:c.*99C>T;NM_001352749:c.*99C>T;NM_001352714:c.*99C>T;NM_001352728:c.*99C>T;NM_001352727:c.*99C>T;NM_001352720:c.*99C>T;NM_001352716:c.*99C>T;NM_001352699:c.*99C>T;NM_001352706:c.*99C>T;NM_001199649:c.*99C>T;NM_001352734:c.*99C>T;NM_001352709:c.*99C>T;NM_001352732:c.*99C>T;NM_001352745:c.*99C>T;NM_001352697:c.*99C>T;NM_001352719:c.*99C>T;NM_001352712:c.*99C>T;NM_001352696:c.*99C>T;NM_001352723:c.*99C>T;NM_001352722:c.*99C>T;NM_001352717:c.*99C>T;NM_001352721:c.*99C>T;NM_001352742:c.*99C>T;NM_001352752:c.*99C>T;NM_001352751:c.*99C>T;NM_001352737:c.*99C>T;NM_001352750:c.*99C>T;NM_001316342:c.*99C>T;NM_005607:c.*99C>T;NM_001352744:c.*99C>T;NM_001352731:c.*99C>T;NM_001352738:c.*99C>T;NM_001352715:c.*99C>T;NM_001352695:c.*99C>T;NM_001352702:c.*99C>T;NM_001352726:c.*99C>T;NM_001352724:c.*99C>T;NM_001352704:c.*99C>T;NM_001352733:c.*99C>T;NM_153831:c.*99C>T;NM_001352729:c.*99C>T;NM_001352730:c.*99C>T;NM_001352707:c.*99C>T;NM_001352708:c.*99C>T;NM_001352736:c.*99C>T;NM_001352743:c.*99C>T;NM_001352700:c.*99C>T;NM_001352746:c.*99C>T;NM_001352701:c.*99C>T;NM_001352710:c.*99C>T;NM_001352698:c.*99C>T;NM_001352739:c.*99C>T;NM_001352694:c.*99C>T;NM_001352713:c.*99C>T;NM_001352705:c.*99C>T;NM_001352703:c.*99C>T;NM_001352711:c.*99C>T;NM_001352725:c.*99C>T;NM_001352718:c.*99C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142238397,142238397,G,A,R007_S,SLC45A4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC45A4,NM_001080431:c.-32C>T;NM_001286648:c.-32C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142487496,142487496,G,A,R007_S,MROH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142517342,142517342,G,A,R007_S,MROH5,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MROH5,dist=12,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143427369,143427369,C,T,R007_S,TSNARE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSNARE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143572217,143572217,G,A,R007_S,ADGRB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143845809,143845809,G,A,R007_S,LYNX1-SLURP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LYNX1-SLURP2;SLURP2,NM_023946:c.*214C>T;NM_177458:c.*214C>T;NM_001356372:c.*69C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143922464,143922464,G,A,R007_S,GML,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GML,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144672513,144672513,C,T,R007_S,EEF1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEF1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144772101,144772101,C,T,R007_S,ZNF707,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF707,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144808013,144808013,G,A,R007_S,FAM83H,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FAM83H,NM_198488:c.*78C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145009116,145009116,G,A,R007_S,PLEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145016406,145016406,C,T,R007_S,PLEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145032986,145032986,G,A,R007_S,PLEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145107509,145107509,G,A,R007_S,OPLAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPLAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145134680,145134680,G,A,R007_S,EXOSC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145139810,145139810,C,T,R007_S,GPAA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPAA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145167463,145167463,C,T,R007_S,WDR97,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR97,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145168838,145168838,G,A,R007_S,WDR97,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR97,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145532544,145532544,G,A,R007_S,HSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145541901,145541901,C,T,R007_S,DGAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145617278,145617278,G,A,R007_S,ADCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145661812,145661812,G,A,R007_S,TONSL-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TONSL-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145667862,145667862,C,T,R007_S,TONSL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TONSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145694240,145694240,C,T,R007_S,KIFC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIFC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145698868,145698868,C,T,R007_S,FOXH1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FOXH1;KIFC2,NM_003923:c.*753G>A;NM_145754:c.*35C>T;NM_001369769:c.*96C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145736368,145736368,C,T,R007_S,MFSD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145931210,145931210,G,A,R007_S,ARHGAP39,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ARHGAP39;ZNF251,dist=19979;dist=15084,NA,NA,NA,NA,NA,NA,NA,NA
chr8,146203604,146203604,C,T,R007_S,ZNF252P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ZNF252P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,214853,214853,C,T,R007_S,DOCK8-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DOCK8-AS1,NA,NA,NA,.,.,N,T,D,T
chr9,2070366,2070366,C,T,R007_S,SMARCA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,8338887,8338887,C,T,R007_S,PTPRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,8470892,8470892,G,A,R007_S,PTPRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,8524721,8524721,G,A,R007_S,PTPRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,18574406,18574406,G,C,R007_S,ADAMTSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,18905921,18905921,G,A,R007_S,ADAMTSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,32418309,32418309,C,T,R007_S,ACO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33290389,33290389,G,A,R007_S,NFX1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NFX1,dist=125,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33447416,33447416,C,T,R007_S,AQP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AQP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33466547,33466547,C,T,R007_S,NOL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33638521,33638521,G,A,R007_S,ANXA2P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANXA2P2;PTENP1,dist=12989;dist=34981,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33662219,33662219,C,T,R007_S,ANXA2P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANXA2P2;PTENP1,dist=36687;dist=11283,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34485592,34485592,C,T,R007_S,DNAI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34512096,34512096,G,A,R007_S,DNAI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34514379,34514379,C,T,R007_S,DNAI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34520650,34520650,C,T,R007_S,DNAI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34622133,34622133,C,T,R007_S,ARID3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34636898,34636898,C,T,R007_S,SIGMAR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIGMAR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34661006,34661006,G,A,R007_S,IL11RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL11RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34662751,34662751,G,A,R007_S,CCL27,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CCL27;IL11RA,dist=97;dist=853,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34689921,34689921,G,A,R007_S,CCL19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCL19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35148227,35148227,C,T,R007_S,FAM214B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM214B;UNC13B,dist=32368;dist=13779,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35236625,35236625,C,T,R007_S,UNC13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35310389,35310389,C,T,R007_S,UNC13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35381527,35381527,C,T,R007_S,UNC13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35608094,35608094,C,T,R007_S,MIR4667,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4667,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35660524,35660524,C,T,R007_S,ARHGEF39,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARHGEF39,NM_032818:c.*1460G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35664936,35664936,C,T,R007_S,ARHGEF39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35718787,35718787,G,A,R007_S,TLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35739272,35739272,G,A,R007_S,GBA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35751193,35751193,C,T,R007_S,RGP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35820070,35820070,G,A,R007_S,FAM221B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM221B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37002616,37002616,C,T,R007_S,PAX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37026483,37026483,C,T,R007_S,PAX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37349291,37349291,G,A,R007_S,ZCCHC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37523003,37523003,G,A,R007_S,FBXO10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415429,68415429,C,A,R007_S,MIR4477A,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4477A;LINC00537;MIR4477B,dist=41;dist=41,NA,NA,NA,NA,NA,NA,NA,NA
chr9,71986406,71986406,C,T,R007_S,FAM189A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM189A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,72659048,72659048,G,A,R007_S,MAMDC2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MAMDC2,NM_001347990:c.-66G>A;NM_153267:c.-66G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,73028307,73028307,G,A,R007_S,KLF9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KLF9,NM_001206:c.-28C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,73150828,73150828,G,A,R007_S,TRPM3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRPM3,NM_001366145:c.*41C>T;NM_001366147:c.*41C>T;NM_001366141:c.*41C>T;NM_206945:c.*41C>T;NM_001366149:c.*41C>T;NM_020952:c.*41C>T;NM_001007471:c.*41C>T;NM_206946:c.*41C>T;NM_206944:c.*41C>T;NM_024971:c.*41C>T;NM_206947:c.*41C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75778364,75778364,G,A,R007_S,ANXA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79259896,79259896,G,A,R007_S,PRUNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRUNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,85958219,85958219,G,A,R007_S,FRMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86280065,86280065,G,A,R007_S,UBQLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBQLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,91660639,91660639,C,T,R007_S,SHC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,93637170,93637170,G,A,R007_S,SYK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,93650265,93650265,G,A,R007_S,SYK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,94841920,94841920,C,T,R007_S,SPTLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95276898,95276898,G,A,R007_S,CENPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPP;ECM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,96847513,96847513,C,T,R007_S,PTPDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99003272,99003272,C,T,R007_S,HSD17B3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99098923,99098923,G,A,R007_S,SLC35D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100050009,100050009,C,T,R007_S,SUGT1P4-STRA6LP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SUGT1P4-STRA6LP;SUGT1P4-STRA6LP-CCDC180,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100126327,100126327,C,T,R007_S,SUGT1P4-STRA6LP-CCDC180,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SUGT1P4-STRA6LP-CCDC180,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100194259,100194259,G,A,R007_S,TDRD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100675134,100675134,C,T,R007_S,TRMO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRMO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100862500,100862500,G,A,R007_S,TRIM14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100963963,100963963,G,A,R007_S,TBC1D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,102747475,102747475,G,A,R007_S,ERP44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERP44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,103114759,103114759,G,A,R007_S,TEX10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TEX10,NM_001161584:c.-56C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,104161309,104161309,G,A,R007_S,ZNF189,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF189,NM_001278231:c.-130G>A;NM_001278232:c.-130G>A;NM_003452:c.-130G>A;NM_197977:c.-950G>A;NM_001278240:c.-130G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,105340740,105340740,G,A,R007_S,LINC00587,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00587,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,107572997,107572997,C,T,R007_S,ABCA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,107599116,107599116,C,T,R007_S,ABCA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,108060250,108060250,C,T,R007_S,SLC44A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111644271,111644271,C,T,R007_S,ELP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111668789,111668789,C,T,R007_S,ELP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111674801,111674801,G,A,R007_S,ELP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112852648,112852648,G,A,R007_S,PALM2-AKAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PALM2-AKAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112924290,112924290,G,A,R007_S,PALM2-AKAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PALM2-AKAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115613102,115613102,C,T,R007_S,SNX30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116184793,116184793,G,A,R007_S,C9orf43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C9orf43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116823579,116823579,G,A,R007_S,AMBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116856258,116856258,G,A,R007_S,KIF12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116924991,116924991,C,T,R007_S,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116967959,116967959,C,T,R007_S,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,117047128,117047128,G,A,R007_S,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,117063134,117063134,C,T,R007_S,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,117389115,117389115,G,A,R007_S,TMEM268,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM268,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123230031,123230031,C,T,R007_S,CDK5RAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK5RAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123732577,123732577,G,A,R007_S,C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123734138,123734138,C,T,R007_S,C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123744361,123744361,C,T,R007_S,C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123789319,123789319,G,A,R007_S,C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123900963,123900963,G,A,R007_S,CNTRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124044092,124044092,C,T,R007_S,GSN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GSN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124079562,124079562,C,T,R007_S,GSN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124132352,124132352,G,A,R007_S,STOM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STOM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124533049,124533049,C,T,R007_S,DAB2IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAB2IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124882311,124882311,C,T,R007_S,MIR4478,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR4478,dist=50,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125027908,125027908,C,T,R007_S,MRRF,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MRRF,NM_001346339:c.-117C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125054207,125054207,G,A,R007_S,MRRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125551143,125551143,C,T,R007_S,OR5C1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OR5C1,dist=69,NA,NA,NA,NA,NA,NA,NA,NA
chr9,126770369,126770369,G,A,R007_S,LOC100505588,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100505588,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127619568,127619568,G,A,R007_S,WDR38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,129243725,129243725,C,T,R007_S,MVB12B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MVB12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,129453358,129453358,G,A,R007_S,LMX1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMX1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,129851198,129851198,G,A,R007_S,ANGPTL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANGPTL2,NM_012098:c.*20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130255080,130255080,G,A,R007_S,LRSAM1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LRSAM1,NM_138361:exon20:c.1504-1G>A;NM_001005373:exon21:c.1504-1G>A;NM_001190723:exon20:c.1423-1G>A;NM_001005374:exon20:c.1504-1G>A,NA,NA,.,.,D,.,.,.
chr9,130265048,130265048,C,T,R007_S,LRSAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRSAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130430303,130430303,G,A,R007_S,STXBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STXBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130478420,130478420,G,A,R007_S,TTC16,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TTC16,NM_144965:c.-5G>A;NM_001317037:c.-5G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130486996,130486996,G,A,R007_S,TTC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130707558,130707558,G,A,R007_S,FAM102A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM102A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130861643,130861643,G,A,R007_S,SLC25A25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130980463,130980463,G,A,R007_S,DNM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131020570,131020570,G,A,R007_S,GOLGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131217371,131217371,C,T,R007_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131235804,131235804,C,T,R007_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131482661,131482661,C,T,R007_S,PKN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131553818,131553818,C,T,R007_S,TBC1D13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131583206,131583206,C,T,R007_S,SPOUT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SPOUT1,NM_016390:c.*1838G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131764350,131764350,C,T,R007_S,NUP188,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131810827,131810827,C,T,R007_S,MIGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131830807,131830807,G,A,R007_S,MIGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131851508,131851508,C,T,R007_S,DOLPP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DOLPP1,NM_020438:c.*222C>T;NM_001135917:c.*222C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131897005,131897005,C,T,R007_S,PTPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132084471,132084471,C,T,R007_S,C9orf106,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C9orf106,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132084604,132084604,G,A,R007_S,C9orf106,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C9orf106,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132404373,132404373,C,T,R007_S,ASB6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ASB6,NM_001202403:c.-95G>A;NM_177999:c.-95G>A;NM_017873:c.-95G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132838593,132838593,G,A,R007_S,GPR107,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR107,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132962861,132962861,C,T,R007_S,NCS1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NCS1,NM_001128826:c.-20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133047680,133047680,C,T,R007_S,HMCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133068966,133068966,G,A,R007_S,HMCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133303082,133303082,C,T,R007_S,HMCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133507454,133507454,G,A,R007_S,FUBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133755383,133755383,C,T,R007_S,ABL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133967242,133967242,C,T,R007_S,LAMC3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LAMC3,NM_006059:c.*68C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134023068,134023068,C,T,R007_S,NUP214,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP214,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134108958,134108958,G,A,R007_S,NUP214,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NUP214,NM_005085:c.*84G>A;NM_001318324:c.*84G>A;NM_001318325:c.*84G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134151617,134151617,C,T,R007_S,FAM78A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM78A,NM_033387:c.-51G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134312183,134312183,G,A,R007_S,PRRC2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRRC2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134385532,134385532,C,T,R007_S,POMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134397643,134397643,G,A,R007_S,POMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134467447,134467447,C,T,R007_S,RAPGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135147034,135147034,C,A,R007_S,SETX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135357657,135357657,C,T,R007_S,CFAP77,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP77,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135374054,135374054,C,T,R007_S,CFAP77,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP77,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135513823,135513823,C,T,R007_S,DDX31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135931545,135931545,C,T,R007_S,GTF3C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135977742,135977742,G,A,R007_S,RALGDS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALGDS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136081574,136081574,C,T,R007_S,OBP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136277624,136277624,C,T,R007_S,REXO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REXO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136570262,136570262,G,A,R007_S,SARDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SARDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136594790,136594790,C,T,R007_S,SARDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SARDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137013532,137013532,C,T,R007_S,WDR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137271226,137271226,G,A,R007_S,RXRA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RXRA,NM_001291920:c.-22305G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137309196,137309196,G,A,R007_S,RXRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RXRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137314157,137314157,C,T,R007_S,RXRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RXRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137658108,137658108,G,A,R007_S,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137694846,137694846,G,A,R007_S,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137982007,137982007,C,T,R007_S,OLFM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OLFM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137989743,137989743,C,T,R007_S,OLFM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OLFM1,NM_006334:c.*111C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138392652,138392652,G,A,R007_S,MRPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138415174,138415174,C,T,R007_S,LCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138905654,138905654,G,A,R007_S,NACC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NACC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139094907,139094907,C,T,R007_S,LHX3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LHX3,NM_014564:c.-22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139142727,139142727,G,A,R007_S,QSOX2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,QSOX2;DKFZP434A062,dist=5040;dist=74271,NA,NA,.,.,.,.,.,T
chr9,139307411,139307411,G,A,R007_S,PMPCA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PMPCA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139616481,139616481,G,A,R007_S,DIPK1B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DIPK1B,NM_152421:exon3:c.306+1G>A,NA,NA,.,.,D,.,.,.
chr9,139650098,139650098,G,A,R007_S,LCN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139690771,139690771,C,G,R007_S,CCDC183,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CCDC183,dist=19,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139697076,139697076,C,T,R007_S,CCDC183,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC183,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139699133,139699133,G,A,R007_S,CCDC183-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CCDC183-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139701145,139701145,C,A,R007_S,CCDC183-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCDC183-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139840227,139840227,G,A,R007_S,C8G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C8G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139873762,139873762,C,T,R007_S,PTGDS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGDS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139877930,139877930,C,T,R007_S,LCNL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LCNL1,NM_207510:c.-109C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139879106,139879106,G,A,R007_S,LCNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139903548,139903548,C,T,R007_S,ABCA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139908534,139908534,C,T,R007_S,ABCA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139995419,139995419,C,T,R007_S,MAN1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140079275,140079275,G,A,R007_S,ANAPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANAPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140082991,140082991,C,T,R007_S,ANAPC2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ANAPC2,NM_013366:c.-7G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140108118,140108118,G,A,R007_S,NDOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140110677,140110677,C,T,R007_S,NDOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140262381,140262381,C,T,R007_S,EXD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140330381,140330381,C,T,R007_S,ENTPD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENTPD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140331548,140331548,G,A,R007_S,ENTPD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENTPD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140459156,140459156,C,T,R007_S,DPH7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPH7,NA,NA,NA,.,.,N,.,.,.
chr9,140508996,140508996,C,T,R007_S,ARRDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARRDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140605279,140605279,C,T,R007_S,EHMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140672626,140672626,G,A,R007_S,EHMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140870269,140870269,G,A,R007_S,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140972828,140972828,C,T,R007_S,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,323219,323219,C,T,R007_S,DIP2C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DIP2C,NM_014974:c.*46G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,436389,436389,G,A,R007_S,DIP2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIP2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5246603,5246603,G,A,R007_S,AKR1C4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1C4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6138902,6138902,C,T,R007_S,RBM17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,11360765,11360765,C,T,R007_S,CELF2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CELF2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,11963138,11963138,G,A,R007_S,UPF2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UPF2,NM_015542:c.*159C>T;NM_080599:c.*159C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,12211393,12211393,G,A,R007_S,SEC61A2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEC61A2,NM_001142627:c.*67G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13320260,13320260,G,A,R007_S,PHYH,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PHYH,NM_001323083:c.*41C>T;NM_001323084:c.*41C>T;NM_001323082:c.*41C>T;NM_001037537:c.*41C>T;NM_001323080:c.*41C>T;NM_006214:c.*41C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14976692,14976692,G,A,R007_S,DCLRE1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCLRE1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15883599,15883599,C,T,R007_S,MINDY3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MINDY3,NM_001318330:exon4:UTR5;NM_024948:exon4:c.236-1G>A,NA,NA,.,.,D,.,.,.
chr10,23326111,23326111,C,T,R007_S,ARMC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26792233,26792233,C,T,R007_S,APBB1IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBB1IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26800849,26800849,C,T,R007_S,APBB1IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBB1IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27335470,27335470,G,A,R007_S,ANKRD26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,30992709,30992709,A,G,R007_S,SVIL2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SVIL2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,30993353,30993353,G,A,R007_S,SVIL2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SVIL2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33221429,33221429,G,A,R007_S,ITGB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33491729,33491729,G,A,R007_S,NRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRP1,NA,NA,NA,D,.,N,D,N,T
chr10,36812605,36812605,G,A,R007_S,PCAT5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PCAT5;ANKRD30A,dist=722757;dist=602180,NA,NA,NA,NA,NA,NA,NA,NA
chr10,49635211,49635211,G,A,R007_S,MAPK8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50255023,50255023,C,T,R007_S,VSTM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50364077,50364077,G,A,R007_S,TMEM273,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM273,NM_001288742:c.*118C>T;NM_001288743:c.*159C>T;NM_001353331:c.*185C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,51555843,51555843,C,T,R007_S,TIMM23B-AGAP6,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TIMM23B-AGAP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,53059422,53059422,G,A,R007_S,PRKG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,56345350,56345350,T,A,R007_S,LOC105378311,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105378311,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,65358929,65358929,G,A,R007_S,REEP3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,REEP3,NM_001001330:exon5:c.304-1G>A,NA,NA,.,.,D,.,.,.
chr10,70182442,70182442,G,A,R007_S,DNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75016279,75016279,G,A,R007_S,DNAJC9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNAJC9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75113510,75113510,G,A,R007_S,CFAP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75237040,75237040,G,A,R007_S,PPP3CB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP3CB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75671871,75671871,G,A,R007_S,C10orf55,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C10orf55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,80310536,80310536,G,A,R007_S,LINC00595,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00595;ZMIZ1-AS1,dist=270566;dist=392547,NA,NA,NA,NA,NA,NA,NA,NA
chr10,82043846,82043846,G,A,R007_S,MAT1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAT1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,88423658,88423658,G,A,R007_S,OPN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,88717315,88717315,G,A,R007_S,MMRN2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MMRN2,NM_024756:c.-17C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,93609392,93609392,G,A,R007_S,TNKS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNKS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95360412,95360412,G,A,R007_S,RBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99120406,99120406,G,A,R007_S,RRP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,100019221,100019221,G,A,R007_S,LOXL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOXL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102893791,102893791,G,A,R007_S,TLX1NB,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TLX1NB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103298175,103298175,G,A,R007_S,BTRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103587859,103587859,G,A,R007_S,KCNIP2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,KCNIP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103870924,103870924,G,A,R007_S,LDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104128431,104128431,G,A,R007_S,GBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104176055,104176055,G,A,R007_S,PSD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104183990,104183990,G,A,R007_S,CUEDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUEDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104636797,104636797,G,A,R007_S,BORCS7-ASMT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BORCS7-ASMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104854093,104854093,C,T,R007_S,NT5C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104899102,104899102,G,A,R007_S,NT5C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105174679,105174679,G,A,R007_S,PDCD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDCD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105193654,105193654,G,A,R007_S,PDCD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDCD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105665035,105665035,C,A,R007_S,STN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105803530,105803530,G,A,R007_S,COL17A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL17A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105831933,105831933,G,A,R007_S,COL17A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL17A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105922226,105922226,C,T,R007_S,CFAP43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,106209757,106209757,G,A,R007_S,CFAP58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,108589260,108589260,G,A,R007_S,SORCS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORCS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,112677978,112677978,G,A,R007_S,BBIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114170098,114170098,G,A,R007_S,ACSL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,116225634,116225634,G,A,R007_S,ABLIM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABLIM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118380914,118380914,G,A,R007_S,PNLIPRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNLIPRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118713515,118713515,G,A,R007_S,SHTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,119133772,119133772,G,A,R007_S,PDZD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDZD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123892052,123892052,G,A,R007_S,TACC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TACC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124400034,124400034,G,A,R007_S,DMBT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMBT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,125521722,125521722,G,A,R007_S,CPXM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPXM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,125528296,125528296,G,A,R007_S,CPXM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPXM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,128780110,128780110,G,A,R007_S,DOCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,129535008,129535008,G,A,R007_S,FOXI2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,FOXI2,dist=441,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134219865,134219865,G,A,R007_S,PWWP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PWWP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134740587,134740587,G,A,R007_S,CFAP46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134886392,134886392,G,A,R007_S,LINC01168,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01168;ADGRA1-AS1,dist=96391;dist=12361,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134906763,134906763,G,A,R007_S,ADGRA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRA1,NA,NA,NA,.,.,N,.,.,.
chr10,135165723,135165723,G,A,R007_S,PRAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135345579,135345579,G,A,R007_S,CYP2E1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2E1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,223828,223828,C,T,R007_S,SIRT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,224044,224044,C,T,R007_S,SIRT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,309174,309174,G,A,R007_S,IFITM2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IFITM2,NM_006435:c.*9G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,407598,407598,C,T,R007_S,SIGIRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIGIRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,418859,418859,G,A,R007_S,ANO9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,431983,431983,C,T,R007_S,ANO9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,532613,532613,C,T,R007_S,HRAS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HRAS,NM_176795:c.*162G>A;NM_001130442:c.*23G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,597347,597347,G,A,R007_S,PHRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,616928,616928,C,T,R007_S,CDHR5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDHR5,NM_031264:c.*423G>A;NM_001171968:c.*423G>A;NM_021924:c.*423G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,695597,695597,C,T,R007_S,DEAF1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DEAF1;TMEM80,NM_001293634:c.-550G>A;NM_021008:c.-550G>A;NM_174940:c.-12C>T;NM_001276274:c.-12C>T;NM_001276253:c.-12C>T;NM_001042463:c.-12C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,830733,830733,C,T,R007_S,CRACR2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRACR2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,842536,842536,C,T,R007_S,POLR2L,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,POLR2L;TSPAN4,dist=288,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1093934,1093934,G,A,R007_S,MUC2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MUC2,NM_002457:exon31:c.5752+1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1248196,1248196,G,A,R007_S,MUC5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1466401,1466401,C,T,R007_S,BRSK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRSK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1492435,1492435,C,T,R007_S,MOB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1756434,1756434,G,A,R007_S,IFITM10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IFITM10,NM_001170820:c.*76C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1857571,1857571,G,A,R007_S,SYT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1862906,1862906,C,T,R007_S,TNNI2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNNI2,NM_003282:c.*125C>T;NM_001145829:c.*125C>T;NM_001145841:c.*125C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1880815,1880815,C,A,R007_S,LSP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1910686,1910686,G,A,R007_S,LSP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSP1,NA,NA,NA,T,.,N,.,N,T
chr11,2005592,2005592,C,T,R007_S,MRPL23-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MRPL23-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2180947,2180947,C,T,R007_S,INS-IGF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INS-IGF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2193028,2193028,G,A,R007_S,TH,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TH,NM_199292:c.-12C>T;NM_199293:c.-12C>T;NM_000360:c.-12C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2194234,2194234,C,T,R007_S,MIR4686,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4686,dist=59,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2417211,2417211,C,T,R007_S,CD81,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD81,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2939502,2939502,C,T,R007_S,SLC22A18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3039003,3039003,C,T,R007_S,CARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3039763,3039763,C,T,R007_S,CARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3914093,3914093,C,T,R007_S,STIM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STIM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4496364,4496364,C,T,R007_S,OR52K2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR52K2;OR52K1,dist=24773;dist=13745,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4662062,4662062,C,T,R007_S,OR51D1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OR51D1,NM_001004751:c.*67C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5274410,5274410,G,A,R007_S,HBG2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HBG2,dist=8,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5291196,5291196,C,T,R007_S,HBE1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,HBE1,dist=21,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6235929,6235929,C,T,R007_S,FAM160A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM160A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6244305,6244305,C,T,R007_S,FAM160A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM160A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6340842,6340842,G,A,R007_S,CAVIN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAVIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6472121,6472121,C,T,R007_S,TRIM3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TRIM3,NM_001248006:exon9:c.1870+1G>A;NM_006458:exon10:c.1870+1G>A;NM_033278:exon9:c.1870+1G>A;NM_001248007:exon8:c.1513+1G>A,NA,NA,.,.,D,.,.,.
chr11,6502728,6502728,G,A,R007_S,ARFIP2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ARFIP2;TIMM10B,dist=3,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6554895,6554895,G,A,R007_S,DNHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6585550,6585550,C,T,R007_S,DNHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6626243,6626243,G,A,R007_S,ILK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ILK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6642672,6642672,G,A,R007_S,DCHS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DCHS1,NM_003737:c.*338C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6647369,6647369,C,T,R007_S,DCHS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCHS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6736154,6736154,C,T,R007_S,GVINP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GVINP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6738352,6738352,C,T,R007_S,GVINP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GVINP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7686550,7686550,C,T,R007_S,CYB5R2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYB5R2,NM_001302827:c.*189G>A;NM_001302826:c.*55G>A;NM_016229:c.*55G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7749920,7749920,T,A,R007_S,OVCH2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OVCH2;OR5P2,dist=21896;dist=67601,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7871107,7871107,C,T,R007_S,OR5E1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR5E1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8115547,8115547,C,T,R007_S,TUB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9075363,9075363,G,A,R007_S,SCUBE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCUBE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9599337,9599337,C,T,R007_S,WEE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WEE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9724887,9724887,G,A,R007_S,SWAP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SWAP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9748506,9748506,G,A,R007_S,SWAP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SWAP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9853758,9853758,G,A,R007_S,SBF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,10503588,10503588,C,T,R007_S,AMPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,11642834,11642834,C,T,R007_S,GALNT18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,12277094,12277094,G,A,R007_S,MICAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,12539128,12539128,C,T,R007_S,PARVA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARVA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,13031055,13031055,G,A,R007_S,RASSF10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RASSF10,NM_001080521:c.-69G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,16812774,16812774,G,A,R007_S,PLEKHA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,16813158,16813158,C,T,R007_S,PLEKHA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,16824723,16824723,G,A,R007_S,PLEKHA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17099524,17099524,G,A,R007_S,RPS13,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RPS13,dist=310,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17417294,17417294,G,A,R007_S,ABCC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17426234,17426234,G,A,R007_S,ABCC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17436042,17436042,C,T,R007_S,ABCC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17544952,17544952,C,T,R007_S,USH1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USH1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17565752,17565752,C,T,R007_S,USH1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USH1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17580539,17580539,C,T,R007_S,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17614888,17614888,C,T,R007_S,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17655203,17655203,C,T,R007_S,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,20099195,20099195,G,A,R007_S,NAV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,20117141,20117141,G,A,R007_S,NAV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22214915,22214915,C,T,R007_S,ANO5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ANO5,NM_001142649:c.-124C>T;NM_213599:c.-124C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22696636,22696636,C,T,R007_S,GAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,26707934,26707934,C,T,R007_S,SLC5A12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,31128518,31128518,G,A,R007_S,DCDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,31838047,31838047,C,T,R007_S,PAX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,34158146,34158146,C,T,R007_S,NAT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,35492142,35492142,C,T,R007_S,PAMR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAMR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,43343717,43343717,C,T,R007_S,API5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,API5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,43427535,43427535,C,T,R007_S,TTC17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,43905657,43905657,G,A,R007_S,ALKBH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALKBH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,43947007,43947007,C,T,R007_S,ALKBH3-AS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ALKBH3-AS1;C11orf96,dist=4513;dist=17180,NA,NA,D,.,N,T,N,T
chr11,43965077,43965077,G,A,R007_S,C11orf96,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C11orf96,NM_001145033:c.*254G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,44081267,44081267,C,T,R007_S,ACCSL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACCSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,44151696,44151696,G,A,R007_S,EXT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,44939785,44939785,G,A,R007_S,TSPAN18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,45226423,45226423,G,A,R007_S,PRDM11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,45919775,45919775,G,A,R007_S,MAPK8IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK8IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,45950129,45950129,C,T,R007_S,LARGE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARGE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46400119,46400119,G,A,R007_S,DGKZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46418974,46418974,G,A,R007_S,AMBRA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AMBRA1,NM_017749:c.*26C>T;NM_001367468:c.*26C>T;NM_001367469:c.*26C>T;NM_001367470:c.*26C>T;NM_001267783:c.*26C>T;NM_001300731:c.*26C>T;NM_001367471:c.*26C>T;NM_001267782:c.*26C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46717130,46717130,C,T,R007_S,ARHGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46724850,46724850,G,A,R007_S,ZNF408,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF408,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46822866,46822866,G,A,R007_S,CKAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46897526,46897526,G,A,R007_S,LRP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46920390,46920390,C,T,R007_S,LRP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46924497,46924497,G,A,R007_S,LRP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46939575,46939575,C,T,R007_S,LRP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47204204,47204204,G,A,R007_S,PACSIN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACSIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47354264,47354264,C,T,R007_S,MYBPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47359208,47359208,C,T,R007_S,MYBPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47364832,47364832,C,T,R007_S,MYBPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47436243,47436243,G,A,R007_S,SLC39A13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47600020,47600020,G,A,R007_S,KBTBD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KBTBD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47602069,47602069,C,T,R007_S,NDUFS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47647345,47647345,C,T,R007_S,MTCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47813456,47813456,G,A,R007_S,NUP160,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,48181606,48181606,G,A,R007_S,PTPRJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,55595656,55595656,G,A,R007_S,OR5L2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR5L2,dist=26,NA,NA,NA,NA,NA,NA,NA,NA
chr11,56569988,56569988,C,T,R007_S,MIR6128,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR6128;LINC02735,dist=58531;dist=45966,NA,NA,NA,NA,NA,NA,NA,NA
chr11,57099825,57099825,G,A,R007_S,SSRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,57188633,57188633,C,T,R007_S,SLC43A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC43A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,57427588,57427588,G,A,R007_S,CLP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,57509464,57509464,G,A,R007_S,TMX2-CTNND1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMX2-CTNND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,58343336,58343336,G,A,R007_S,LPXN,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LPXN,NM_004811:c.-91C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60638400,60638400,C,T,R007_S,ZP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60697888,60697888,G,A,R007_S,TMEM132A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM132A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60889442,60889442,G,A,R007_S,CD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61081333,61081333,C,T,R007_S,DDB1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DDB1,NM_001923:exon15:c.1861+1G>A,NA,NA,D,.,D,T,D,T
chr11,61096766,61096766,C,T,R007_S,DDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61253904,61253904,C,T,R007_S,PPP1R32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61253910,61253910,G,A,R007_S,PPP1R32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61290764,61290764,G,A,R007_S,SYT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61490469,61490469,C,T,R007_S,DAGLA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAGLA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61543651,61543651,C,T,R007_S,MYRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61666289,61666289,G,A,R007_S,RAB3IL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3IL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61730702,61730702,C,T,R007_S,BEST1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BEST1,NM_001363592:c.*971C>T;NM_001139443:c.*81C>T;NM_001363591:c.*81C>T;NM_001363593:c.*81C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61732366,61732366,G,A,R007_S,BEST1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BEST1,NM_001139443:c.*1745G>A;NM_001363591:c.*1745G>A;NM_001363593:c.*1745G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62363738,62363738,C,T,R007_S,MTA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62370601,62370601,G,A,R007_S,EML3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62474203,62474203,C,T,R007_S,HNRNPUL2-BSCL2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HNRNPUL2-BSCL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62749494,62749494,G,A,R007_S,SLC22A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62782048,62782048,G,A,R007_S,SLC22A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63400458,63400458,G,A,R007_S,ATL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63607042,63607042,C,T,R007_S,MARK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63665671,63665671,G,A,R007_S,MARK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64029040,64029040,G,A,R007_S,PLCB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64029672,64029672,C,T,R007_S,PLCB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64070847,64070847,C,T,R007_S,KCNK4-TEX40,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,KCNK4-TEX40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64123007,64123007,C,T,R007_S,CCDC88B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64138003,64138003,C,T,R007_S,RPS6KA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64217210,64217210,C,T,R007_S,LINC02724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64398106,64398106,G,A,R007_S,NRXN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64535471,64535471,C,T,R007_S,SF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64604500,64604500,G,A,R007_S,CDC42BPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64662237,64662237,C,T,R007_S,ATG2A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ATG2A,NM_015104:c.*208G>A;NM_001367972:c.*208G>A;NM_001367971:c.*208G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64662694,64662694,G,A,R007_S,ATG2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64813441,64813441,G,A,R007_S,NAALADL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAALADL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64882370,64882370,G,A,R007_S,TM7SF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM7SF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64993033,64993033,G,A,R007_S,SLC22A20P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SLC22A20P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65111331,65111331,G,A,R007_S,DPF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65268163,65268163,G,A,R007_S,MALAT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MALAT1;TALAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65271745,65271745,G,A,R007_S,MALAT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MALAT1;TALAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65273038,65273038,C,T,R007_S,MALAT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MALAT1;TALAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65325059,65325059,C,T,R007_S,LTBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65359417,65359417,C,T,R007_S,EHBP1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHBP1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65374101,65374101,G,A,R007_S,MAP3K11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65388162,65388162,C,T,R007_S,PCNX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCNX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65479709,65479709,G,A,R007_S,KAT5,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,KAT5,dist=14,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65617314,65617314,C,T,R007_S,SNX32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65714575,65714575,C,T,R007_S,TSGA10IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSGA10IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65715312,65715312,C,T,R007_S,TSGA10IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSGA10IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65734614,65734614,G,A,R007_S,SART1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SART1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65803296,65803296,G,A,R007_S,CATSPER1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CATSPER1;GAL3ST3,dist=9346;dist=4940,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65984287,65984287,C,T,R007_S,PACS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65995056,65995056,G,A,R007_S,PACS1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PACS1,NM_018026:exon11:c.1374+1G>A,NA,NA,.,.,D,.,.,.
chr11,66106302,66106302,G,A,R007_S,BRMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66138699,66138699,C,T,R007_S,SLC29A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC29A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66254843,66254843,G,A,R007_S,DPP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66303713,66303713,C,T,R007_S,ZDHHC24,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZDHHC24,NM_207340:c.*3287G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66373144,66373144,C,T,R007_S,CCS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66473052,66473052,G,A,R007_S,SPTBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66478309,66478309,C,T,R007_S,SPTBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66613041,66613041,C,T,R007_S,RCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66949439,66949439,G,A,R007_S,KDM2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67076820,67076820,C,T,R007_S,SSH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67186809,67186809,C,T,R007_S,CARNS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARNS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67267130,67267130,C,T,R007_S,PITPNM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67799816,67799816,G,A,R007_S,NDUFS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67811133,67811133,G,A,R007_S,TCIRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCIRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68846174,68846174,C,T,R007_S,TPCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,69062695,69062695,C,T,R007_S,MYEOV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYEOV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,69490055,69490055,G,A,R007_S,LTO1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LTO1,NM_153451:c.-48C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,69995742,69995742,G,A,R007_S,ANO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70172576,70172576,G,A,R007_S,PPFIA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70805850,70805850,G,A,R007_S,SHANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71614354,71614354,C,T,R007_S,LOC100133315,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100133315,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71814130,71814130,C,T,R007_S,LAMTOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMTOR1;LRTOMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71906833,71906833,G,A,R007_S,FOLR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71949238,71949238,C,T,R007_S,INPPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72028037,72028037,C,T,R007_S,CLPB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLPB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72282001,72282001,C,T,R007_S,LINC01537,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01537,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72342239,72342239,C,T,R007_S,PDE2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72412983,72412983,G,A,R007_S,ARAP1-AS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ARAP1-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72469462,72469462,G,A,R007_S,STARD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STARD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72525659,72525659,G,A,R007_S,ATG16L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG16L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73141903,73141903,G,A,R007_S,FAM168A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM168A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73357719,73357719,G,A,R007_S,PLEKHB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73361785,73361785,C,T,R007_S,PLEKHB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73676106,73676106,G,A,R007_S,DNAJB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73680393,73680393,G,A,R007_S,DNAJB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73686195,73686195,G,A,R007_S,UCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74081929,74081929,C,T,R007_S,PGM2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74331155,74331155,C,T,R007_S,POLD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74979901,74979901,C,T,R007_S,ARRB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARRB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74988343,74988343,C,T,R007_S,ARRB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARRB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75151053,75151053,G,A,R007_S,GDPD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDPD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75277310,75277310,G,A,R007_S,SERPINH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75431247,75431247,G,A,R007_S,MOGAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOGAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75440063,75440063,G,A,R007_S,MOGAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOGAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76391206,76391206,C,T,R007_S,GUCY2EP,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,GUCY2EP,dist=4,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76427420,76427420,G,A,R007_S,GUCY2EP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUCY2EP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76872187,76872187,G,A,R007_S,MYO7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76939097,76939097,C,T,R007_S,GDPD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDPD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77790874,77790874,G,A,R007_S,NDUFC2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NDUFC2;NDUFC2-KCTD14,NM_004549:c.-84C>T;NM_001204055:c.-84C>T;NM_001204054:c.-84C>T;NM_001203260:c.-84C>T;NM_001203261:c.-84C>T;NM_001203262:c.-84C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77936347,77936347,C,T,R007_S,GAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,84843902,84843902,G,A,R007_S,DLG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,85726039,85726039,G,A,R007_S,PICALM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PICALM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,86749042,86749042,G,A,R007_S,TMEM135,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TMEM135,NM_022918:c.-46G>A;NM_001168724:c.-46G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,86947841,86947841,C,T,R007_S,TMEM135,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM135,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89868674,89868674,G,A,R007_S,NAALAD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAALAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,93754783,93754783,G,A,R007_S,HEPHL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,93834560,93834560,C,T,R007_S,HEPHL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94501596,94501596,G,A,R007_S,AMOTL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,AMOTL1,NM_001301007:c.-82G>A;NM_130847:c.-82G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,95598692,95598692,G,A,R007_S,MTMR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,101826917,101826917,C,T,R007_S,CEP126,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP126,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,104904928,104904928,C,T,R007_S,CASP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107521507,107521507,G,A,R007_S,ELMOD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMOD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107729572,107729572,C,T,R007_S,SLC35F2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SLC35F2,dist=59,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111715291,111715291,C,T,R007_S,ALG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111751681,111751681,C,T,R007_S,C11orf1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111848530,111848530,G,A,R007_S,DIXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIXDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,112100860,112100860,C,T,R007_S,PTS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113235375,113235375,G,A,R007_S,TTC12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113612661,113612661,C,T,R007_S,ZW10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZW10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,115061462,115061462,G,A,R007_S,CADM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,116634012,116634012,C,T,R007_S,BUD13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BUD13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,116652809,116652809,G,A,R007_S,ZPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,116740949,116740949,G,A,R007_S,SIK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117089457,117089457,C,T,R007_S,PCSK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117299031,117299031,C,T,R007_S,DSCAML1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DSCAML1,NM_020693:c.*13G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117647711,117647711,C,T,R007_S,DSCAML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSCAML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118404479,118404479,C,T,R007_S,TMEM25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118532321,118532321,G,A,R007_S,TREH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TREH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118756953,118756953,G,A,R007_S,CXCR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXCR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118828190,118828190,G,A,R007_S,UPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118882782,118882782,G,A,R007_S,CCDC84,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118919632,118919632,C,T,R007_S,HYOU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYOU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118926766,118926766,C,T,R007_S,HYOU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYOU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118948810,118948810,G,A,R007_S,VPS11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118968056,118968056,G,A,R007_S,DPAGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPAGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119044828,119044828,G,A,R007_S,NLRX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119044947,119044947,C,T,R007_S,NLRX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119216748,119216748,G,A,R007_S,C1QTNF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QTNF5;MFRP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,120187911,120187911,C,T,R007_S,POU2F3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POU2F3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,120827447,120827447,C,T,R007_S,LOC101929208,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929208,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121174077,121174077,G,A,R007_S,SC5D,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SC5D,NM_006918:c.-8G>A;NM_001024956:c.-8G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121323369,121323369,C,T,R007_S,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121415896,121415896,G,A,R007_S,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,122667801,122667801,G,A,R007_S,UBASH3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBASH3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124972420,124972420,C,T,R007_S,TMEM218,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM218,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125830758,125830758,C,T,R007_S,CDON,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDON,NM_001243597:c.*79G>A;NM_016952:c.*79G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126045783,126045783,C,T,R007_S,CDON,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CDON;RPUSD4,dist=112596;dist=26206,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126343392,126343392,G,A,R007_S,KIRREL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIRREL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,128681017,128681017,G,A,R007_S,FLI1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FLI1,NM_001271012:c.*134G>A;NM_001167681:c.*134G>A;NM_001271010:c.*134G>A;NM_002017:c.*134G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,129751969,129751969,C,T,R007_S,NFRKB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFRKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,129799346,129799346,A,G,R007_S,PRDM10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,129801278,129801278,G,A,R007_S,PRDM10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,129980353,129980353,C,T,R007_S,APLP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APLP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130058605,130058605,C,T,R007_S,ST14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130319839,130319839,C,T,R007_S,ADAMTS15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130731607,130731607,C,T,R007_S,LINC02551,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02551,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134023102,134023102,G,A,R007_S,NCAPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134062544,134062544,C,T,R007_S,NCAPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134126642,134126642,C,T,R007_S,ACAD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134129028,134129028,C,T,R007_S,ACAD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134147175,134147175,G,A,R007_S,GLB1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,307011,307011,C,T,R007_S,SLC6A12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,331655,331655,C,T,R007_S,SLC6A13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,655621,655621,C,T,R007_S,B4GALNT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALNT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,936450,936450,G,A,R007_S,WNK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNK1,NA,NA,NA,D,.,N,T,N,T
chr12,1919642,1919642,C,T,R007_S,CACNA2D4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2691835,2691835,C,T,R007_S,CACNA1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2775830,2775830,C,T,R007_S,CACNA1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2933141,2933141,C,T,R007_S,ITFG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITFG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3661819,3661819,C,T,R007_S,PRMT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3678742,3678742,C,T,R007_S,PRMT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3685946,3685946,C,T,R007_S,PRMT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,5963456,5963456,C,T,R007_S,ANO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6424476,6424476,C,T,R007_S,PLEKHG6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6427906,6427906,C,T,R007_S,PLEKHG6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6493710,6493710,C,T,R007_S,LTBR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTBR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6568121,6568121,G,A,R007_S,TAPBPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAPBPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6644048,6644048,G,A,R007_S,GAPDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAPDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6687130,6687130,C,T,R007_S,CHD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6753218,6753218,G,A,R007_S,ACRBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACRBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6762004,6762004,C,T,R007_S,ING4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ING4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6927830,6927830,C,T,R007_S,CD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6928352,6928352,C,T,R007_S,CD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6955943,6955943,C,T,R007_S,CDCA3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDCA3,NM_001297603:c.*9G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6966714,6966714,C,T,R007_S,USP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7075532,7075532,C,T,R007_S,PHB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7260836,7260836,C,T,R007_S,C1RL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1RL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7894001,7894001,C,T,R007_S,CLEC4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7942198,7942198,C,T,R007_S,NANOG,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NANOG,NM_001297698:c.-13C>T;NM_024865:c.-13C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7945908,7945908,C,T,R007_S,NANOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NANOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7984425,7984425,C,T,R007_S,SLC2A14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8808308,8808308,C,T,R007_S,MFAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8976012,8976012,C,T,R007_S,A2ML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,A2ML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8998024,8998024,C,T,R007_S,A2ML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,A2ML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9006706,9006706,C,T,R007_S,A2ML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,A2ML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9007984,9007984,C,T,R007_S,A2ML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,A2ML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9086859,9086859,C,T,R007_S,PHC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9333805,9333805,C,T,R007_S,PZP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PZP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9659878,9659878,C,T,R007_S,DDX12P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,DDX12P;OVOS,dist=59110;dist=4378,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9875239,9875239,C,T,R007_S,CLECL1,RNA,NA,NA,NA,NA,SNP,SNVindel,exonic,CLECL1;CLECL1,NM_001253750:exon2:c.486+1G>A;NM_001267701:exon2:c.486+1G>A,nonsynonymous SNV,CLECL1:NM_172004:exon2:c.G487A:p.V163M,D,.,N,T,N,T
chr12,9994879,9994879,C,T,R007_S,KLRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10165600,10165600,C,T,R007_S,CLEC12B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10213712,10213712,G,A,R007_S,CLEC9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10313532,10313532,G,A,R007_S,OLR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OLR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,11420362,11420362,C,T,R007_S,PRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRB3,NA,NA,NA,.,.,N,T,N,T
chr12,11463420,11463420,C,T,R007_S,PRB4,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PRB4,dist=51,NA,NA,NA,NA,NA,NA,NA,NA
chr12,11904870,11904870,C,T,R007_S,ETV6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,11905315,11905315,C,T,R007_S,ETV6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,12967060,12967060,C,T,R007_S,DDX47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21427349,21427349,C,T,R007_S,SLCO1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,23793723,23793723,C,T,R007_S,SOX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,23887701,23887701,C,T,R007_S,SOX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,25236252,25236252,C,T,R007_S,LRMP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRMP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,26208396,26208396,G,A,R007_S,RASSF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASSF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,26878759,26878759,C,T,R007_S,ITPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27468119,27468119,C,T,R007_S,STK38L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK38L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,29624969,29624969,C,T,R007_S,OVCH1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,OVCH1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31297885,31297885,C,T,R007_S,OVOS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OVOS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,34175792,34175792,C,T,R007_S,ALG10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,39713679,39713679,C,T,R007_S,KIF21A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40694772,40694772,C,T,R007_S,LRRK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40925989,40925989,C,T,R007_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40931179,40931179,C,T,R007_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40939250,40939250,G,A,R007_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,41831942,41831942,G,A,R007_S,PDZRN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDZRN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,42491836,42491836,C,T,R007_S,GXYLT1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GXYLT1,NM_001099650:exon5:c.772-1G>A;NM_173601:exon6:c.865-1G>A,NA,NA,.,.,D,.,.,.
chr12,45269271,45269271,C,T,R007_S,NELL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NELL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46121044,46121044,C,T,R007_S,LINC00938,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00938,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46121192,46121192,C,T,R007_S,LINC00938,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00938,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,47186639,47186639,C,T,R007_S,SLC38A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48143635,48143635,G,A,R007_S,RAPGEF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48189349,48189349,C,T,R007_S,HDAC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48191080,48191080,C,T,R007_S,HDAC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48272579,48272579,G,A,R007_S,VDR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48468577,48468577,C,T,R007_S,SENP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SENP1,NM_001267595:exon7:c.553-1G>A;NM_001267594:exon7:c.553-1G>A,NA,NA,.,.,D,.,.,.
chr12,48535241,48535241,G,A,R007_S,PFKM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49075068,49075068,G,A,R007_S,KANSL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANSL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49225830,49225830,G,A,R007_S,DDX23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49237842,49237842,C,T,R007_S,DDX23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49392462,49392462,G,A,R007_S,DDN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DDN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49424903,49424903,C,T,R007_S,KMT2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49503526,49503526,C,T,R007_S,LMBR1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMBR1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49580315,49580315,G,A,R007_S,TUBA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBA1A,NA,NA,NA,T,.,N,T,N,T
chr12,49919721,49919721,C,T,R007_S,SPATS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49937683,49937683,C,T,R007_S,KCNH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49958734,49958734,C,T,R007_S,MCRS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCRS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49982452,49982452,C,T,R007_S,FAM186B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM186B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50025946,50025946,C,T,R007_S,PRPF40B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF40B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50472476,50472476,C,T,R007_S,ASIC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASIC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50475483,50475483,G,A,R007_S,ASIC1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ASIC1,NM_001095:c.*51G>A;NM_020039:c.*51G>A;NM_001256830:c.*51G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50503187,50503187,C,T,R007_S,GPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50503339,50503339,C,T,R007_S,GPD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPD1,NM_005276:c.*37C>T;NM_001257199:c.*37C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51393123,51393123,C,T,R007_S,SLC11A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC11A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51402926,51402926,C,T,R007_S,SLC11A2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC11A2,NM_001174130:c.-5G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51752877,51752877,C,T,R007_S,GALNT6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51864088,51864088,C,T,R007_S,SLC4A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52308426,52308426,C,T,R007_S,ACVRL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACVRL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52370018,52370018,G,A,R007_S,ACVR1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACVR1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52432432,52432432,C,T,R007_S,NR4A1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NR4A1,NM_001202234:c.-62C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52449032,52449032,G,A,R007_S,NR4A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR4A1,NA,NA,NA,D,.,N,D,N,T
chr12,52636723,52636723,G,A,R007_S,KRT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53068884,53068884,G,A,R007_S,KRT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRT1,NM_006121:c.*93C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53071900,53071900,C,T,R007_S,KRT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53085690,53085690,G,A,R007_S,KRT77,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT77,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53085714,53085714,C,T,R007_S,KRT77,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT77,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53202204,53202204,C,T,R007_S,KRT4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KRT4,NM_002272:exon6:c.1000-1G>A,NA,NA,.,.,D,.,.,.
chr12,53292304,53292304,C,T,R007_S,KRT8,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KRT8,NM_002273:exon7:c.1203-1G>A;NM_001256282:exon8:c.1287-1G>A;NM_001256293:exon8:c.1203-1G>A,NA,NA,.,.,D,.,.,.
chr12,53443050,53443050,G,A,R007_S,LOC283335,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC283335,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53455555,53455555,C,T,R007_S,TNS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53497844,53497844,G,A,R007_S,SOAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53512361,53512361,G,A,R007_S,SOAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53553380,53553380,G,A,R007_S,CSAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53589125,53589125,C,T,R007_S,ITGB7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53613629,53613629,G,A,R007_S,RARG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RARG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53664397,53664397,G,A,R007_S,ESPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53684000,53684000,G,A,R007_S,ESPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53839701,53839701,G,A,R007_S,PRR13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRR13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54070039,54070039,G,A,R007_S,ATP5MC2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATP5MC2,NM_001369755:c.-3641C>T;NM_001369754:c.-3641C>T;NM_001002031:c.-63C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54106991,54106991,C,T,R007_S,CALCOCO1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CALCOCO1,NM_020898:exon14:c.1792-1G>A;NM_001143682:exon13:c.1537-1G>A,NA,NA,.,.,D,.,.,.
chr12,54115975,54115975,C,T,R007_S,CALCOCO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALCOCO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54795337,54795337,C,T,R007_S,LOC102724050,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724050,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54796664,54796664,G,A,R007_S,LOC102724050,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724050,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54798174,54798174,C,T,R007_S,LOC102724050,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724050,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54966886,54966886,C,T,R007_S,PDE1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,55026935,55026935,G,A,R007_S,LACRT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LACRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,55248891,55248891,C,T,R007_S,MUCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,55251950,55251950,C,T,R007_S,MUCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56119876,56119876,C,T,R007_S,CD63,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56492476,56492476,C,T,R007_S,ERBB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERBB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56551417,56551417,C,T,R007_S,MYL6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYL6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56567402,56567402,C,T,R007_S,SMARCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56572870,56572870,C,T,R007_S,SMARCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56600209,56600209,C,T,R007_S,RNF41,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RNF41,NM_005785:c.*22G>A;NM_194358:c.*22G>A;NM_001242826:c.*22G>A;NM_194359:c.*22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56631204,56631204,C,T,R007_S,SLC39A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56994639,56994639,G,A,R007_S,BAZ2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAZ2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56996682,56996682,C,T,R007_S,BAZ2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAZ2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57066922,57066922,C,T,R007_S,PTGES3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGES3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57532221,57532221,C,T,R007_S,LRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57577749,57577749,G,A,R007_S,LRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57627458,57627458,G,A,R007_S,SHMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57871067,57871067,G,A,R007_S,ARHGAP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57920220,57920220,G,A,R007_S,MBD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57962737,57962737,C,T,R007_S,KIF5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57972145,57972145,G,A,R007_S,KIF5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57972175,57972175,G,A,R007_S,KIF5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57993006,57993006,G,A,R007_S,PIP4K2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP4K2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58010352,58010352,C,T,R007_S,ARHGEF25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58122079,58122079,C,T,R007_S,AGAP2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AGAP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58139893,58139893,C,T,R007_S,TSPAN31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,63131479,63131479,C,T,R007_S,PPM1H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPM1H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64671644,64671644,G,A,R007_S,C12orf56,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf56,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69983544,69983544,C,T,R007_S,CCT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,70195516,70195516,G,A,R007_S,RAB3IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,70735985,70735985,G,A,R007_S,CNOT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72355353,72355353,C,T,R007_S,TPH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,73015017,73015017,C,T,R007_S,TRHDE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRHDE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,77444237,77444237,G,A,R007_S,E2F7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,E2F7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80651498,80651498,C,T,R007_S,OTOGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81929221,81929221,G,A,R007_S,PPFIA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88383260,88383260,C,T,R007_S,C12orf50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94580017,94580017,C,T,R007_S,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94772437,94772437,C,T,R007_S,CEP83,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP83,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,95906560,95906560,C,T,R007_S,METAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,95907418,95907418,C,T,R007_S,METAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96386698,96386698,C,T,R007_S,HAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,97019617,97019617,C,T,R007_S,CFAP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,97137754,97137754,C,T,R007_S,CFAP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102182410,102182410,C,T,R007_S,GNPTAB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNPTAB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104076944,104076944,C,T,R007_S,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104160134,104160134,C,T,R007_S,STAB2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STAB2,NM_017564:c.*20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104276422,104276422,G,A,R007_S,TTC41P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TTC41P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,106770327,106770327,C,T,R007_S,POLR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,107109055,107109055,C,T,R007_S,LOC100287944,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100287944,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109186612,109186612,G,A,R007_S,SSH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109509647,109509647,G,A,R007_S,USP30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109610197,109610197,G,A,R007_S,ACACB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109650581,109650581,G,A,R007_S,ACACB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109661544,109661544,C,T,R007_S,ACACB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109703134,109703134,G,A,R007_S,ACACB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109724647,109724647,G,A,R007_S,FOXN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109746277,109746277,G,A,R007_S,FOXN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109831069,109831069,G,A,R007_S,MYO1H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110451103,110451103,C,T,R007_S,ANKRD13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110458989,110458989,C,T,R007_S,ANKRD13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110890811,110890811,C,T,R007_S,GPN3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPN3,NM_001164373:c.*28G>A;NM_001164372:c.*28G>A;NM_016301:c.*28G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110984004,110984004,C,T,R007_S,PPTC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPTC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111078340,111078340,C,T,R007_S,TCTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111348810,111348810,C,T,R007_S,MYL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYL2,NM_000432:c.*71G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111801559,111801559,C,T,R007_S,PHETA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHETA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112632642,112632642,C,T,R007_S,HECTD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113601129,113601129,G,A,R007_S,DDX54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113605754,113605754,C,T,R007_S,DDX54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113638619,113638619,C,T,R007_S,IQCD,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,IQCD,NM_001330452:exon3:c.730-1G>A,NA,NA,.,.,D,.,.,.
chr12,113710393,113710393,G,A,R007_S,TPCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113866217,113866217,C,T,R007_S,SDSL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,114380042,114380042,C,T,R007_S,RBM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,114397647,114397647,C,T,R007_S,RBM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,114400028,114400028,C,T,R007_S,RBM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,115117709,115117709,C,T,R007_S,TBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,116408675,116408675,C,T,R007_S,MED13L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED13L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117157990,117157990,C,T,R007_S,C12orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117273761,117273761,T,C,R007_S,RNFT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNFT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117664476,117664476,C,T,R007_S,NOS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117672599,117672599,C,T,R007_S,NOS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117908943,117908943,C,T,R007_S,KSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,118293205,118293205,C,T,R007_S,KSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,118455646,118455646,C,T,R007_S,RFC5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RFC5,NM_181578:c.-211C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,118582691,118582691,C,T,R007_S,PEBP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PEBP1,NM_002567:c.*83C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,119631696,119631696,C,T,R007_S,HSPB8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HSPB8,NM_014365:c.*33C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120067853,120067853,T,C,R007_S,TMEM233,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM233,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120135653,120135653,C,T,R007_S,CIT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120171932,120171932,C,T,R007_S,CIT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120173253,120173253,G,A,R007_S,CIT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120196547,120196547,G,A,R007_S,CIT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120568346,120568346,C,T,R007_S,GCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120876087,120876087,G,A,R007_S,COX6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121098149,121098149,C,T,R007_S,CABP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CABP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121458926,121458926,C,T,R007_S,OASL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OASL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121476818,121476818,C,T,R007_S,OASL,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OASL,NM_001261825:c.-44G>A;NM_003733:c.-44G>A;NM_198213:c.-44G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121690395,121690395,C,T,R007_S,CAMKK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122012518,122012518,G,A,R007_S,KDM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122078940,122078940,C,T,R007_S,ORAI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORAI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122092427,122092427,C,T,R007_S,MORN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122263101,122263101,C,T,R007_S,SETD1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122404845,122404845,C,T,R007_S,WDR66,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR66,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122673965,122673965,G,A,R007_S,LRRC43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122677227,122677227,C,T,R007_S,LRRC43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122694109,122694109,G,A,R007_S,DIABLO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIABLO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123065249,123065249,A,G,R007_S,KNTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123687661,123687661,C,T,R007_S,MPHOSPH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123687746,123687746,G,A,R007_S,MPHOSPH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124817105,124817105,C,T,R007_S,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124856520,124856520,G,A,R007_S,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124873157,124873157,C,T,R007_S,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,125449355,125449355,C,T,R007_S,DHX37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,125467196,125467196,C,T,R007_S,DHX37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,125473395,125473395,C,T,R007_S,DHX37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,126929619,126929619,C,T,R007_S,LINC02347,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02347;LINC02825,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129278584,129278584,C,T,R007_S,SLC15A4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC15A4,NM_145648:c.*157G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,131954103,131954103,C,T,R007_S,LINC02370,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02370;LINC02414,dist=102003;dist=176360,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132394312,132394312,C,T,R007_S,ULK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ULK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132394434,132394434,C,T,R007_S,ULK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ULK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132398746,132398746,C,T,R007_S,ULK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ULK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132402938,132402938,G,A,R007_S,ULK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ULK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132416933,132416933,G,A,R007_S,PUS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132546880,132546880,C,T,R007_S,EP400,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EP400,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132551279,132551279,C,T,R007_S,EP400,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EP400,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132811685,132811685,C,T,R007_S,GALNT9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133153586,133153586,C,T,R007_S,FBRSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBRSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133202164,133202164,C,T,R007_S,POLE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133304584,133304584,C,T,R007_S,ANKLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,20638501,20638501,G,A,R007_S,ZMYM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21157188,21157188,G,A,R007_S,IFT88,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT88,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24736734,24736734,G,A,R007_S,SPATA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,28519377,28519377,C,T,R007_S,PDX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PDX1;LINC00543,dist=18927;dist=8286,NA,NA,NA,NA,NA,NA,NA,NA
chr13,28589394,28589394,C,T,R007_S,FLT3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FLT3,NM_004119:exon22:c.2654-1G>A,NA,NA,.,.,D,.,.,.
chr13,33052113,33052113,C,T,R007_S,N4BP2L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,N4BP2L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,36764238,36764238,G,A,R007_S,CCDC169-SOHLH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC169-SOHLH2;SOHLH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,38172926,38172926,G,A,R007_S,POSTN,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,POSTN,NM_001286666:c.-63C>T;NM_001135935:c.-63C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr13,39554357,39554357,G,A,R007_S,STOML3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STOML3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,42769203,42769203,G,A,R007_S,DGKH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,43148678,43148678,G,T,R007_S,TNFSF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFSF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52378273,52378273,C,T,R007_S,DHRS12,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DHRS12,NM_024705:c.-4478G>A;NM_001270424:c.-28G>A;NM_001031719:c.-4478G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53030761,53030761,C,T,R007_S,CKAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53298115,53298115,G,A,R007_S,CNMD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNMD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53419530,53419530,C,T,R007_S,PCDH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,75915436,75915436,G,A,R007_S,TBC1D4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,76124170,76124170,G,A,R007_S,UCHL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCHL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,78163406,78163406,G,A,R007_S,SCEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,78182292,78182292,C,T,R007_S,SCEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,78474790,78474790,C,T,R007_S,EDNRB,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,EDNRB,NM_001201397:exon6:c.1222-1G>A;NM_000115:exon6:c.952-1G>A;NM_003991:exon5:c.952-1G>A;NM_001122659:exon5:c.952-1G>A,NA,NA,.,.,D,.,.,.
chr13,79219144,79219144,G,A,R007_S,OBI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,79951513,79951513,C,T,R007_S,RBM26,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RBM26,NM_001286631:exon3:c.327+1G>A;NM_001286632:exon3:c.327+1G>A;NM_022118:exon3:c.327+1G>A;NM_001366735:exon3:c.327+1G>A,NA,NA,.,.,D,.,.,.
chr13,86928204,86928204,G,A,R007_S,SLITRK6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLITRK6;LINC00430,dist=554650;dist=635971,NA,NA,NA,NA,NA,NA,NA,NA
chr13,92002981,92002981,G,A,R007_S,MIR17HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR17HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95696506,95696506,C,T,R007_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95727618,95727618,C,T,R007_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,98629124,98629124,G,A,R007_S,IPO5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPO5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99045773,99045773,G,A,R007_S,FARP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99098883,99098883,C,T,R007_S,FARP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99339987,99339987,G,A,R007_S,SLC15A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC15A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99373529,99373529,G,A,R007_S,SLC15A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC15A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99378297,99378297,C,A,R007_S,SLC15A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC15A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99404983,99404983,C,T,R007_S,SLC15A1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SLC15A1,dist=57,NA,NA,NA,NA,NA,NA,NA,NA
chr13,106118685,106118685,G,A,R007_S,DAOA-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DAOA-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,110830588,110830588,G,A,R007_S,COL4A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111091053,111091053,G,A,R007_S,COL4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111102275,111102275,G,A,R007_S,COL4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111120752,111120752,G,A,R007_S,COL4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113153268,113153268,C,T,R007_S,TUBGCP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBGCP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113490608,113490608,G,T,R007_S,ATP11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113534943,113534943,G,A,R007_S,ATP11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113563497,113563497,C,T,R007_S,ATP11A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ATP11A;MCF2L-AS1,dist=22015;dist=58301,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113835369,113835369,G,A,R007_S,PCID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113963924,113963924,C,T,R007_S,LAMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113964227,113964227,G,A,R007_S,LAMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114325739,114325739,G,A,R007_S,GRK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114538482,114538482,G,A,R007_S,GAS6-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GAS6-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114782708,114782708,C,T,R007_S,RASA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20201607,20201607,C,T,R007_S,OR11H2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR11H2;OR4Q3,dist=19116;dist=13980,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20794713,20794713,C,T,R007_S,CCNB1IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNB1IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20815010,20815010,C,T,R007_S,PARP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20837801,20837801,C,T,R007_S,TEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20852888,20852888,C,T,R007_S,TEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21463982,21463982,G,A,R007_S,METTL17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21544925,21544925,C,T,R007_S,ARHGEF40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21775804,21775804,G,A,R007_S,RPGRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPGRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21851949,21851949,G,A,R007_S,SUPT16H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPT16H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21944822,21944822,C,T,R007_S,RAB2B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RAB2B,NM_001163380:c.-1749G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22409209,22409209,C,T,R007_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=269977;dist=438599,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22591977,22591977,C,T,R007_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=452745;dist=255831,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22938204,22938204,C,T,R007_S,LOC105370401,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105370401,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22959570,22959570,C,T,R007_S,LOC105370401,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC105370401;LINC02332,dist=7622;dist=65635,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22962458,22962458,C,T,R007_S,LOC105370401,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC105370401;LINC02332,dist=10510;dist=62747,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22963833,22963833,C,T,R007_S,LOC105370401,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC105370401;LINC02332,dist=11885;dist=61372,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23016487,23016487,C,T,R007_S,LOC105370401,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC105370401;LINC02332,dist=64539;dist=8718,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23019554,23019554,C,T,R007_S,LOC105370401,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC105370401;LINC02332,dist=67606;dist=5651,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23738037,23738037,C,T,R007_S,RNF212B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF212B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23828498,23828498,C,T,R007_S,EFS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23858939,23858939,C,T,R007_S,MYH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23862288,23862288,G,A,R007_S,MYH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23862870,23862870,C,T,R007_S,MYH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23866737,23866737,C,T,R007_S,MYH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23885212,23885212,C,T,R007_S,MHRT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MHRT;MYH7,NM_000257:exon34:c.4953+1G>A,NA,NA,.,.,D,.,.,.
chr14,23886600,23886600,C,T,R007_S,MHRT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MHRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23888532,23888532,C,T,R007_S,MYH7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24044825,24044825,C,T,R007_S,JPH4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JPH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24403685,24403685,C,T,R007_S,DHRS2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,DHRS2;DHRS4-AS1,dist=288837;dist=4255,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24606231,24606231,G,A,R007_S,PSME1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSME1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24624311,24624311,C,T,R007_S,RNF31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24624922,24624922,C,T,R007_S,RNF31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24646766,24646766,C,T,R007_S,REC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24648468,24648468,G,A,R007_S,REC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24675044,24675044,C,T,R007_S,TSSK4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TSSK4,NM_174944:c.-86C>T;NM_001184739:c.-86C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24675593,24675593,C,T,R007_S,TSSK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSSK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24685033,24685033,C,T,R007_S,MDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDP1;NEDD8-MDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24729955,24729955,G,A,R007_S,TGM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24798266,24798266,C,T,R007_S,ADCY4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ADCY4,NM_139247:exon11:c.1524+1G>A;NM_001198568:exon10:c.1524+1G>A;NM_001198592:exon11:c.1524+1G>A,NA,NA,.,.,D,.,.,.
chr14,24798606,24798606,C,T,R007_S,ADCY4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ADCY4,NM_139247:exon10:c.1350+1G>A;NM_001198568:exon9:c.1350+1G>A;NM_001198592:exon10:c.1350+1G>A,NA,NA,.,.,D,.,.,.
chr14,24836597,24836597,C,T,R007_S,NFATC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFATC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24841837,24841837,C,T,R007_S,NFATC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFATC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24843318,24843318,C,T,R007_S,NFATC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFATC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24877032,24877032,C,T,R007_S,NYNRIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NYNRIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,25901273,25901273,C,T,R007_S,STXBP6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,STXBP6;NOVA1,dist=381770;dist=1011023,NA,NA,NA,NA,NA,NA,NA,NA
chr14,30067899,30067899,C,T,R007_S,PRKD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,30105750,30105750,G,A,R007_S,PRKD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31775901,31775901,C,T,R007_S,HEATR5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,32438674,32438674,C,T,R007_S,LINC02313,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02313;ARHGAP5-AS1,dist=19174;dist=105951,NA,NA,NA,NA,NA,NA,NA,NA
chr14,34149872,34149872,C,T,R007_S,NPAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35050637,35050637,C,T,R007_S,SNX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35742827,35742827,G,A,R007_S,PRORP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRORP,NM_014672:c.*55G>A;NM_001256681:c.*55G>A;NM_001256680:c.*55G>A;NM_001256679:c.*55G>A;NM_001256678:c.*55G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35786540,35786540,G,A,R007_S,PSMA6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PSMA6,NM_001282234:c.*28G>A;NM_001282233:c.*28G>A;NM_001282232:c.*28G>A;NM_002791:c.*28G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36009008,36009008,C,T,R007_S,RALGAPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALGAPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36040044,36040044,G,A,R007_S,RALGAPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALGAPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50068339,50068339,C,T,R007_S,LRR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50281386,50281386,G,A,R007_S,NEMF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEMF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50559133,50559133,G,A,R007_S,LINC01599,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01599,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51194371,51194371,C,T,R007_S,NIN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NIN,NM_182944:c.*36G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51237787,51237787,C,T,R007_S,NIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,52482072,52482072,C,T,R007_S,NID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53197095,53197095,C,T,R007_S,STYX,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STYX,NM_145251:c.-98C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,55411049,55411049,C,T,R007_S,WDHD1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,WDHD1,NM_007086:exon25:c.3189+1G>A;NM_001008396:exon24:c.2820+1G>A,NA,NA,.,.,D,.,.,.
chr14,55900505,55900505,C,T,R007_S,TBPL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBPL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,57735285,57735285,C,T,R007_S,EXOC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,59797811,59797811,C,T,R007_S,DAAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,60011835,60011835,C,T,R007_S,CCDC175,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC175,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,63863510,63863510,C,T,R007_S,PPP2R5E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R5E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64375973,64375973,C,T,R007_S,SYNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64428179,64428179,C,T,R007_S,SYNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64445798,64445798,C,T,R007_S,SYNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65203566,65203566,C,T,R007_S,PLEKHG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65230386,65230386,C,T,R007_S,SPTB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65252391,65252391,G,A,R007_S,MIR7855,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR7855,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65510957,65510957,C,T,R007_S,CHURC1-FNTB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHURC1-FNTB;FNTB;MAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65801799,65801799,G,A,R007_S,MIR4708,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR4708,dist=37,NA,NA,NA,NA,NA,NA,NA,NA
chr14,66082910,66082910,C,T,R007_S,FUT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,67864631,67864631,C,T,R007_S,PLEK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,68008473,68008473,C,T,R007_S,PLEKHH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,68022526,68022526,C,T,R007_S,PLEKHH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,68028757,68028757,G,A,R007_S,PLEKHH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,68191344,68191344,C,T,R007_S,RDH12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RDH12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,68193963,68193963,C,T,R007_S,RDH12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RDH12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69369374,69369374,C,T,R007_S,ACTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69966819,69966819,C,T,R007_S,PLEKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73444814,73444814,G,A,R007_S,ZFYVE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFYVE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74346891,74346891,C,T,R007_S,PTGR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74398100,74398100,C,T,R007_S,ZNF410,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF410,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74439483,74439483,G,A,R007_S,ENTPD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENTPD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74532067,74532067,C,T,R007_S,BBOF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BBOF1,NM_025057:c.*665C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74551553,74551553,C,T,R007_S,ALDH6A1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ALDH6A1;LIN52,dist=103,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74995177,74995177,C,T,R007_S,LTBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75530347,75530347,C,T,R007_S,ACYP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACYP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75602449,75602449,G,T,R007_S,TMED10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMED10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77255524,77255524,C,T,R007_S,ANGEL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANGEL1,NM_015305:c.*47G>A;NM_001370747:c.*47G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77276027,77276027,C,T,R007_S,ANGEL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77699776,77699776,C,T,R007_S,TMEM63C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM63C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77710850,77710850,C,T,R007_S,TMEM63C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM63C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77746928,77746928,C,T,R007_S,POMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77942515,77942515,C,T,R007_S,ISM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ISM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,78399469,78399469,C,T,R007_S,ADCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,81938792,81938792,C,T,R007_S,SEL1L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEL1L,NM_005065:c.*4524G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88701622,88701622,C,T,R007_S,KCNK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89076036,89076036,C,T,R007_S,ZC3H14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91365791,91365791,C,T,R007_S,RPS6KA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91747676,91747676,G,A,R007_S,CCDC88C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91883522,91883522,C,T,R007_S,CCDC88C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88C,NA,NA,NA,D,.,N,.,N,T
chr14,92353667,92353667,C,T,R007_S,FBLN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBLN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92491774,92491774,A,T,R007_S,TRIP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92950114,92950114,G,A,R007_S,SLC24A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC24A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94527248,94527248,C,T,R007_S,DDX24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95028019,95028019,C,T,R007_S,SERPINA4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SERPINA4,NM_001289032:c.-34C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,99880420,99880420,C,T,R007_S,SETD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100758530,100758530,C,T,R007_S,SLC25A29,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC25A29,NM_001291813:c.*90G>A;NM_001291814:c.*90G>A;NM_001352820:c.*90G>A;NM_001352821:c.*90G>A;NM_001352822:c.*90G>A;NM_001352823:c.*90G>A;NM_152333:c.*90G>A;NM_001039355:c.*90G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100765087,100765087,C,T,R007_S,SLC25A29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100801207,100801207,G,A,R007_S,WARS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WARS,NM_173701:c.*5C>T;NM_004184:c.*5C>T;NM_213645:c.*5C>T;NM_213646:c.*5C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101301206,101301206,C,T,R007_S,MEG3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MEG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101409666,101409666,C,T,R007_S,MEG8,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MEG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101506170,101506170,C,T,R007_S,MIR376A1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR376A1;MIR376A2;MIR376B;MIR654;MIR376C,dist=236;dist=78,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102024478,102024478,C,T,R007_S,DIO3OS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DIO3OS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102446037,102446037,G,A,R007_S,DYNC1H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102476485,102476485,C,T,R007_S,DYNC1H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102496487,102496487,C,T,R007_S,DYNC1H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102500642,102500642,G,A,R007_S,DYNC1H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103177265,103177265,C,T,R007_S,RCOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103421137,103421137,C,T,R007_S,CDC42BPB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103444436,103444436,C,T,R007_S,CDC42BPB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104177892,104177892,C,T,R007_S,XRCC3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,XRCC3,NM_001100118:c.-468G>A;NM_005432:c.-468G>A;NM_001100119:c.-468G>A;NM_001371232:c.-468G>A;NM_001371229:c.-468G>A;NM_001371231:c.-468G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104577962,104577962,C,T,R007_S,ASPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105259101,105259101,C,T,R007_S,AKT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105349344,105349344,C,T,R007_S,CEP170B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP170B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105397060,105397060,C,T,R007_S,PLD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105608656,105608656,C,T,R007_S,JAG2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,JAG2,NM_002226:c.*376G>A;NM_145159:c.*376G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105675936,105675936,C,T,R007_S,BRF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BRF1,NM_001519:c.*952G>A;NM_001242788:c.*952G>A;NM_001242786:c.*952G>A;NM_001242787:c.*952G>A;NM_145685:c.*952G>A;NM_001242789:c.*952G>A,NA,NA,D,.,N,.,N,T
chr14,105678528,105678528,C,T,R007_S,BRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105849108,105849108,C,T,R007_S,PACS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105911659,105911659,C,T,R007_S,MTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105935746,105935746,G,A,R007_S,MTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105960080,105960080,C,T,R007_S,TEDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106307411,106307411,C,T,R007_S,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=168267;dist=16882,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106329407,106329407,C,A,R007_S,MIR4539,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4539;FAM30A,dist=2823;dist=54431,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106552773,106552773,C,G,R007_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=114415;dist=191496,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20613939,20613939,C,T,R007_S,HERC2P3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HERC2P3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22440896,22440896,C,T,R007_S,OR4N3P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4N3P;IGHV1OR15-1,dist=26501;dist=7344,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22483215,22483215,G,A,R007_S,IGHV1OR15-3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IGHV1OR15-3;MIR1268A,dist=16668;dist=30014,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22873358,22873358,G,A,R007_S,TUBGCP5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TUBGCP5,NM_001354377:c.*110G>A;NM_052903:c.*110G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25332954,25332954,C,T,R007_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25427451,25427451,C,T,R007_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25427745,25427745,C,T,R007_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25523651,25523651,C,T,R007_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25523684,25523684,C,T,R007_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25620967,25620967,G,A,R007_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25953274,25953274,C,T,R007_S,ATP10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,29368147,29368147,G,A,R007_S,APBA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,29400618,29400618,C,T,R007_S,APBA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,31117057,31117057,C,T,R007_S,HERC2P10,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HERC2P10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,33999319,33999319,G,A,R007_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34042296,34042296,G,A,R007_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34105892,34105892,G,A,R007_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34110913,34110913,C,T,R007_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34152727,34152727,C,T,R007_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34655600,34655600,C,T,R007_S,LPCAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPCAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34655725,34655725,T,G,R007_S,LPCAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPCAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,35271846,35271846,C,T,R007_S,ZNF770,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF770,NM_014106:c.*1714G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,38235687,38235687,C,T,R007_S,TMCO5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMCO5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,39544259,39544259,G,A,R007_S,C15orf54,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C15orf54;C15orf54,NR_144508:exon2:c.196-1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,39875901,39875901,C,T,R007_S,THBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,39885581,39885581,C,T,R007_S,THBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40005809,40005809,C,T,R007_S,FSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40581680,40581680,G,A,R007_S,PLCB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40591227,40591227,C,T,R007_S,PLCB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40630346,40630346,G,A,R007_S,CCDC9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41103015,41103015,G,A,R007_S,ZFYVE19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFYVE19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41226961,41226961,C,T,R007_S,DLL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41364044,41364044,C,T,R007_S,INO80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INO80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41772981,41772981,C,T,R007_S,RTF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RTF1,NM_015138:c.*96C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41786621,41786621,G,A,R007_S,ITPKA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPKA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41797844,41797844,G,A,R007_S,LTK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41815599,41815599,C,T,R007_S,RPAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42108718,42108718,C,T,R007_S,MAPKBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPKBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42113954,42113954,G,A,R007_S,MAPKBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPKBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42138343,42138343,C,T,R007_S,JMJD7-PLA2G4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JMJD7-PLA2G4B;PLA2G4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42154534,42154534,C,T,R007_S,SPTBN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42154888,42154888,G,A,R007_S,SPTBN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42165862,42165862,C,T,R007_S,SPTBN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42178568,42178568,G,A,R007_S,SPTBN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42373171,42373171,C,T,R007_S,PLA2G4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42379685,42379685,C,T,R007_S,PLA2G4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42386510,42386510,C,T,R007_S,PLA2G4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42435012,42435012,C,T,R007_S,PLA2G4F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G4F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42442262,42442262,G,A,R007_S,PLA2G4F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G4F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42454198,42454198,C,T,R007_S,VPS39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42643654,42643654,C,T,R007_S,GANC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GANC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42966697,42966697,G,A,R007_S,STARD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STARD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43010165,43010165,C,T,R007_S,STARD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STARD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43028325,43028325,C,T,R007_S,CDAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44086447,44086447,C,T,R007_S,SERF2-C15ORF63,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SERF2-C15ORF63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44089198,44089198,C,T,R007_S,SERF2-C15ORF63,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SERF2-C15ORF63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44092692,44092692,G,A,R007_S,SERF2-C15ORF63,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_splicing,SERF2-C15ORF63,NR_037673:exon3:c.518-1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44212051,44212051,C,T,R007_S,FRMD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44216577,44216577,C,T,R007_S,FRMD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44892842,44892842,G,A,R007_S,SPG11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPG11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44961810,44961810,C,T,R007_S,PATL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45250723,45250723,C,T,R007_S,TERB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TERB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,48053280,48053280,C,T,R007_S,SEMA6D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA6D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,48441569,48441569,C,T,R007_S,MYEF2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MYEF2,NM_016132:exon15:c.1379-1G>A;NM_001301210:exon14:c.1307-1G>A,NA,NA,.,.,D,.,.,.
chr15,48539079,48539079,C,T,R007_S,SLC12A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,48780490,48780490,C,T,R007_S,FBN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,57931744,57931744,G,A,R007_S,GCOM1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GCOM1;MYZAP,NM_001018090:exon10:c.1119+1G>A;NM_001018091:exon10:c.1119+1G>A;NM_001285900:exon10:c.1119+1G>A;NM_152451:exon10:c.1119+1G>A;NM_001018100:exon10:c.1119+1G>A,NA,NA,.,.,D,.,.,.
chr15,58254124,58254124,C,T,R007_S,ALDH1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,58985017,58985017,C,T,R007_S,HSP90AB4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HSP90AB4P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59224433,59224433,G,A,R007_S,SLTM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLTM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59523840,59523840,C,T,R007_S,MYO1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59784444,59784444,C,T,R007_S,FAM81A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM81A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,60298200,60298200,G,A,R007_S,FOXB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FOXB1,NM_012182:c.*60G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62539542,62539542,G,A,R007_S,GOLGA2P11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GOLGA2P11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,63632911,63632911,C,T,R007_S,CA12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,63941865,63941865,G,A,R007_S,HERC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64218365,64218365,C,T,R007_S,DAPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65343970,65343970,G,A,R007_S,SLC51B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC51B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65862562,65862562,G,A,R007_S,HACD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HACD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65885941,65885941,G,A,R007_S,INTS14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65916367,65916367,C,T,R007_S,SLC24A1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC24A1,NM_001301033:c.-52C>T;NM_004727:c.-52C>T;NM_001301031:c.-52C>T;NM_001301032:c.-52C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65952603,65952603,C,T,R007_S,DENND4A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DENND4A,NM_005848:c.*1586G>A;NM_001144823:c.*1586G>A;NM_001320835:c.*1586G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65988647,65988647,C,T,R007_S,DENND4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66795283,66795283,C,T,R007_S,RPL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,67501793,67501793,C,T,R007_S,AAGAB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AAGAB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,68122663,68122663,C,T,R007_S,SKOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,68609751,68609751,C,T,R007_S,ITGA11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,68631831,68631831,C,T,R007_S,ITGA11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69340289,69340289,C,T,R007_S,NOX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72996764,72996764,G,A,R007_S,BBS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74000819,74000819,G,A,R007_S,CD276,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD276,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74003423,74003423,C,T,R007_S,CD276,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD276,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74473849,74473849,C,T,R007_S,STRA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74625705,74625705,C,T,R007_S,CCDC33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74751006,74751006,C,T,R007_S,UBL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75105147,75105147,C,T,R007_S,LMAN1L,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LMAN1L,dist=29,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75111220,75111220,C,T,R007_S,LMAN1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMAN1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75113201,75113201,C,T,R007_S,LMAN1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMAN1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75120367,75120367,C,T,R007_S,CPLX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPLX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75340877,75340877,C,T,R007_S,PPCDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPCDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75646023,75646023,C,T,R007_S,MIR631,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR631,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75647478,75647478,C,T,R007_S,NEIL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NEIL1,NM_001352520:c.*103C>T;NM_024608:c.*103C>T;NM_001256552:c.*103C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75654356,75654356,C,T,R007_S,MAN2C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN2C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75902207,75902207,C,T,R007_S,SNUPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNUPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78358299,78358299,G,A,R007_S,TBC1D2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78556740,78556740,G,A,R007_S,DNAJA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,79080482,79080482,C,T,R007_S,ADAMTS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,79224580,79224580,C,T,R007_S,CTSH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTSH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,79264318,79264318,C,T,R007_S,RASGRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,80215760,80215760,C,T,R007_S,ST20-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ST20-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,83680229,83680229,C,T,R007_S,C15orf40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C15orf40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84255656,84255656,C,T,R007_S,SH3GL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3GL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85366717,85366717,G,A,R007_S,ALPK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,86259199,86259199,C,T,R007_S,AKAP13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,89071021,89071021,C,T,R007_S,DET1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DET1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,89869842,89869842,C,T,R007_S,POLG,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,POLG,NM_002693:exon9:c.1712+1G>A;NM_001126131:exon9:c.1712+1G>A,NA,NA,.,.,D,.,.,.
chr15,90172367,90172367,G,A,R007_S,KIF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90431911,90431911,C,T,R007_S,AP3S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3S2;ARPIN-AP3S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90432189,90432189,C,T,R007_S,AP3S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3S2;ARPIN-AP3S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90616535,90616535,G,A,R007_S,ZNF710,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF710,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90628495,90628495,C,T,R007_S,IDH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90772795,90772795,C,T,R007_S,SEMA4B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEMA4B,NM_001324030:c.*920C>T;NM_001324029:c.*920C>T;NM_020210:c.*920C>T;NM_001324031:c.*920C>T;NM_001324034:c.*920C>T;NM_198925:c.*920C>T;NM_001324032:c.*1644C>T;NM_001324033:c.*920C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91450243,91450243,C,T,R007_S,MAN2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91454049,91454049,C,T,R007_S,MAN2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91478440,91478440,C,T,R007_S,UNC45A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,UNC45A,NM_001039675:c.-115C>T;NM_001323620:c.-4530C>T;NM_001323621:c.-115C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91479269,91479269,C,T,R007_S,UNC45A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC45A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91543402,91543402,G,A,R007_S,VPS33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91561013,91561013,C,T,R007_S,VPS33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91835849,91835849,C,T,R007_S,SV2B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SV2B,NM_001323031:c.*67C>T;NM_001167580:c.*67C>T;NM_001323033:c.*67C>T;NM_014848:c.*67C>T;NM_001323034:c.*67C>T;NM_001323032:c.*67C>T;NM_001323038:c.*67C>T;NM_001323036:c.*67C>T;NM_001323037:c.*67C>T;NM_001323039:c.*67C>T;NM_001323040:c.*67C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,93631961,93631961,C,T,R007_S,RGMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,94364270,94364270,C,T,R007_S,LOC105370980,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC105370980;LINC02207,dist=612993;dist=35519,NA,NA,NA,NA,NA,NA,NA,NA
chr15,99678105,99678105,G,A,R007_S,TTC23,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TTC23,NM_001288615:c.*110C>T;NM_001353869:c.*110C>T;NM_001288616:c.*110C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,417498,417498,C,T,R007_S,MRPL28,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MRPL28,NM_006428:c.*177G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,679733,679733,G,A,R007_S,RAB40C,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,RAB40C,dist=460,NA,NA,NA,NA,NA,NA,NA,NA
chr16,685587,685587,C,T,R007_S,METTL26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL26,NA,NA,NA,T,.,N,.,N,.
chr16,700212,700212,C,T,R007_S,WDR90,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR90,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,703492,703492,C,T,R007_S,WDR90,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR90,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,736239,736239,G,A,R007_S,WDR24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,737967,737967,G,A,R007_S,WDR24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR24,NA,NA,NA,T,U,N,T,N,T
chr16,772577,772577,C,T,R007_S,ANTKMT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANTKMT,NM_001271285:c.*20C>T;NM_023933:c.*20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,774561,774561,C,T,R007_S,CCDC78,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,823028,823028,G,A,R007_S,MIR662,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR662;RPUSD1,dist=2751;dist=11946,NA,NA,NA,NA,NA,NA,NA,NA
chr16,842903,842903,C,T,R007_S,CHTF18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHTF18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1312410,1312410,G,A,R007_S,TPSD1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TPSD1;UBE2I,dist=3401;dist=46743,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1391291,1391291,C,T,R007_S,BAIAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1392706,1392706,G,A,R007_S,BAIAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1392822,1392822,G,A,R007_S,BAIAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1394007,1394007,G,A,R007_S,BAIAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1433598,1433598,C,T,R007_S,UNKL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNKL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1440713,1440713,G,A,R007_S,UNKL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNKL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1453359,1453359,A,G,R007_S,UNKL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNKL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1675965,1675965,C,T,R007_S,CRAMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRAMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1774495,1774495,G,A,R007_S,MAPK8IP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK8IP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1815188,1815188,C,T,R007_S,MAPK8IP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK8IP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1867130,1867130,G,A,R007_S,HAGH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAGH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1876810,1876810,C,T,R007_S,HAGH,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HAGH,NM_005326:c.-22G>A;NM_001286249:c.-22G>A;NM_001040427:c.-3840G>A;NM_001363912:c.-22G>A;NM_001363914:c.-3840G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2004572,2004572,C,T,R007_S,RPL3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2026152,2026152,G,A,R007_S,TBL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2115493,2115493,G,A,R007_S,TSC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2135036,2135036,G,A,R007_S,TSC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2142632,2142632,C,T,R007_S,LOC105371049,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105371049,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2367578,2367578,C,T,R007_S,ABCA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2498809,2498809,G,A,R007_S,CCNF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2503314,2503314,C,T,R007_S,CCNF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2578236,2578236,G,A,R007_S,AMDHD2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,AMDHD2,NM_001330449:exon7:c.718-1G>A;NM_001145815:exon7:c.718-1G>A;NM_015944:exon7:c.718-1G>A,NA,NA,.,.,D,.,.,.
chr16,2854868,2854868,C,A,R007_S,PRSS41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2891178,2891178,G,A,R007_S,PRSS30P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRSS30P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2905909,2905909,G,A,R007_S,PRSS22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2972787,2972787,C,T,R007_S,FLYWCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLYWCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3018305,3018305,C,T,R007_S,KREMEN2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KREMEN2,NM_024507:c.*331C>T;NM_001253725:c.*331C>T;NM_001253726:c.*284C>T;NM_172229:c.*284C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3081152,3081152,C,T,R007_S,BICDL2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,BICDL2,NM_001369667:exon3:c.283-1G>A;NM_001103175:exon2:c.283-1G>A,NA,NA,.,.,D,.,.,.
chr16,3131808,3131808,G,A,R007_S,IL32,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IL32;ZSCAN10,dist=11988;dist=7083,NA,NA,T,.,.,T,N,T
chr16,3197235,3197235,G,A,R007_S,CASP16P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CASP16P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3490947,3490947,G,A,R007_S,ZNF597,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF597,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3586319,3586319,G,A,R007_S,CLUAP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CLUAP1,NM_001330454:c.*48G>A;NM_015041:c.*48G>A;NM_024793:c.*48G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3594436,3594436,G,A,R007_S,NLRC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3706312,3706312,G,A,R007_S,DNASE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNASE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3721614,3721614,C,T,R007_S,TRAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4257968,4257968,G,A,R007_S,SRL,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SRL,NM_001323668:c.-3398C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4383248,4383248,G,A,R007_S,GLIS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLIS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4500572,4500572,G,A,R007_S,DNAJA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4500649,4500649,G,A,R007_S,DNAJA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4519191,4519191,C,T,R007_S,NMRAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NMRAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4745269,4745269,C,A,R007_S,NUDT16L1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NUDT16L1,NM_032349:c.*89C>A;NM_001193452:c.*216C>A;NM_001370585:c.*89C>A;NM_001370586:c.*216C>A;NM_001370587:c.*89C>A;NM_001370588:c.*89C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4788084,4788084,G,A,R007_S,C16orf71,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf71,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4847926,4847926,C,T,R007_S,ROGDI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROGDI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,5078839,5078839,C,T,R007_S,NAGPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAGPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,8996160,8996160,G,A,R007_S,USP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10851583,10851583,G,A,R007_S,NUBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11251118,11251118,G,A,R007_S,CLEC16A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC16A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11868087,11868087,C,T,R007_S,ZC3H7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11977016,11977016,C,T,R007_S,GSPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,12609320,12609320,C,T,R007_S,SNX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14697942,14697942,G,A,R007_S,PARN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15127300,15127300,C,T,R007_S,PDXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15694479,15694479,G,A,R007_S,MARF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15841629,15841629,G,A,R007_S,MYH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15870034,15870034,C,T,R007_S,MYH11,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MYH11,NM_002474:exon8:c.791-1G>A;NM_022844:exon8:c.791-1G>A;NM_001040114:exon9:c.812-1G>A;NM_001040113:exon9:c.812-1G>A,NA,NA,.,.,D,.,.,.
chr16,17294516,17294516,G,A,R007_S,XYLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XYLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,18859137,18859137,C,T,R007_S,SMG1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SMG1,NM_015092:exon37:c.5841+1G>A,NA,NA,.,.,D,.,.,.
chr16,19180006,19180006,G,A,R007_S,SYT17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19261369,19261369,G,A,R007_S,SYT17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19505705,19505705,C,T,R007_S,TMC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19553939,19553939,C,T,R007_S,CCP110,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCP110,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19586288,19586288,G,A,R007_S,VPS35L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS35L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20552205,20552205,G,A,R007_S,ACSM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20563424,20563424,G,A,R007_S,ACSM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20618292,20618292,C,T,R007_S,ACSM2B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ACSM2B;ACSM1,dist=30603;dist=16265,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20810516,20810516,C,T,R007_S,ERI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20999210,20999210,C,T,R007_S,DNAH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21014407,21014407,C,T,R007_S,DNAH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21148116,21148116,G,A,R007_S,DNAH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21221408,21221408,G,A,R007_S,ZP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21328249,21328249,G,A,R007_S,CRYM-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CRYM-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22134768,22134768,C,T,R007_S,VWA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22271693,22271693,G,A,R007_S,EEF2K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEF2K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22291500,22291500,C,T,R007_S,EEF2K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEF2K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22319419,22319419,C,T,R007_S,POLR3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22320832,22320832,G,A,R007_S,POLR3E,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,POLR3E,NM_001258035:exon5:c.256+1G>A;NM_001258036:exon6:c.364+1G>A;NM_001258034:exon5:c.256+1G>A;NM_018119:exon6:c.364+1G>A;NM_001258033:exon6:c.364+1G>A,NA,NA,.,.,D,.,.,.
chr16,23224280,23224280,C,T,R007_S,SCNN1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCNN1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23421837,23421837,C,T,R007_S,COG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23568900,23568900,G,A,R007_S,EARS2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,EARS2;UBFD1,dist=148,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24358262,24358262,C,T,R007_S,CACNG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24564947,24564947,G,A,R007_S,RBBP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBBP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24980127,24980127,G,A,R007_S,ARHGAP17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27666004,27666004,C,T,R007_S,KIAA0556,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0556,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28494009,28494009,G,A,R007_S,CLN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28602006,28602006,G,A,R007_S,SGF29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGF29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28883732,28883732,C,T,R007_S,SH2B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28906035,28906035,G,A,R007_S,ATP2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28949827,28949827,C,T,R007_S,CD19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28989401,28989401,C,T,R007_S,SPNS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPNS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28993165,28993165,C,T,R007_S,SPNS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPNS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29000805,29000805,G,A,R007_S,LAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29811116,29811116,G,A,R007_S,KIF22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29872664,29872664,G,A,R007_S,CDIPT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDIPT,NA,NA,NA,T,.,N,T,N,.
chr16,29883657,29883657,C,T,R007_S,SEZ6L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEZ6L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29906531,29906531,G,A,R007_S,SEZ6L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEZ6L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29999308,29999308,C,T,R007_S,TAOK2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TAOK2,NM_001252043:c.*7C>T;NM_016151:c.*7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30017905,30017905,C,T,R007_S,DOC2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOC2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30020963,30020963,C,T,R007_S,DOC2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOC2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30100165,30100165,G,A,R007_S,TBX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30119611,30119611,G,A,R007_S,GDPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30124612,30124612,C,T,R007_S,GDPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30365888,30365888,C,T,R007_S,CD2BP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD2BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30386149,30386149,C,T,R007_S,MYLPF,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MYLPF,NM_001324459:c.-30C>T;NM_001324458:c.-30C>T;NM_013292:c.-30C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30615532,30615532,C,T,R007_S,ZNF689,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF689,NM_138447:c.*53G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30795726,30795726,C,T,R007_S,ZNF629,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF629,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30965251,30965251,C,T,R007_S,ORAI3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ORAI3,NM_152288:c.*86C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31160888,31160888,C,T,R007_S,PRSS36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31191408,31191408,G,A,R007_S,FUS,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,FUS,dist=23,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31199566,31199566,C,T,R007_S,FUS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31234283,31234283,G,A,R007_S,TRIM72,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM72,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31383882,31383882,G,A,R007_S,ITGAX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31419596,31419596,C,T,R007_S,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31439665,31439665,G,A,R007_S,COX6A2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,COX6A2,NM_005205:c.-19C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31499570,31499570,C,T,R007_S,SLC5A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31766907,31766907,C,T,R007_S,ZNF720,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF720,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,48158119,48158119,C,T,R007_S,ABCC12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50324360,50324360,C,T,R007_S,ADCY7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50346151,50346151,G,A,R007_S,ADCY7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50750450,50750450,C,T,R007_S,NOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,54319667,54319667,C,T,R007_S,IRX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55523461,55523461,C,T,R007_S,MMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55532366,55532366,G,A,R007_S,MMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55566859,55566859,C,T,R007_S,LPCAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPCAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56228134,56228134,G,A,R007_S,DKFZP434H168,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DKFZP434H168,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56601612,56601612,C,T,R007_S,MT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56709933,56709933,G,A,R007_S,MT1IP,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MT1IP,dist=95,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56916450,56916450,G,A,R007_S,SLC12A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56920499,56920499,C,T,R007_S,SLC12A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56995121,56995121,C,T,R007_S,CETP,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CETP,dist=741,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57057694,57057694,C,T,R007_S,NLRC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57261216,57261216,G,A,R007_S,RSPRY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPRY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57279252,57279252,G,A,R007_S,ARL2BP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ARL2BP,NM_012106:c.-28G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57597713,57597713,G,A,R007_S,ADGRG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57719845,57719845,C,T,R007_S,ADGRG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57760663,57760663,C,T,R007_S,DRC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57789682,57789682,C,T,R007_S,KATNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KATNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57896784,57896784,G,A,R007_S,LOC388282,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC388282;CNGB1,dist=45953;dist=19460,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57974250,57974250,G,A,R007_S,CNGB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNGB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58163055,58163055,C,T,R007_S,CFAP20,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CFAP20,NM_013242:c.-36G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58619415,58619415,G,A,R007_S,CNOT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58710046,58710046,G,A,R007_S,SLC38A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,61859090,61859090,G,A,R007_S,CDH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66551621,66551621,G,A,R007_S,TK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66551622,66551622,C,T,R007_S,TK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66969392,66969392,C,T,R007_S,CES2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CES2,NM_003869:c.-147C>T,NA,NA,D,.,N,T,N,T
chr16,67166871,67166871,G,A,R007_S,C16orf70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67237374,67237374,G,A,R007_S,ELMO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67263657,67263657,G,A,R007_S,FHOD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHOD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67323395,67323395,G,A,R007_S,KCTD19,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KCTD19;PLEKHG4,NM_001100915:c.*77C>T;NM_001129728:c.*684G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67330216,67330216,G,A,R007_S,KCTD19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCTD19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67405257,67405257,G,A,R007_S,LRRC36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67410587,67410587,G,A,R007_S,LRRC36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67432874,67432874,G,A,R007_S,ZDHHC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67710017,67710017,C,T,R007_S,GFOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67918161,67918161,G,A,R007_S,EDC4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EDC4,NM_014329:c.*110G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67977142,67977142,C,T,R007_S,LCAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67980598,67980598,C,T,R007_S,SLC12A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68023088,68023088,G,A,R007_S,DPEP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPEP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68279199,68279199,C,T,R007_S,PLA2G15,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PLA2G15,dist=77,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68381416,68381416,G,A,R007_S,PRMT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68386475,68386475,C,T,R007_S,PRMT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68390586,68390586,C,T,R007_S,PRMT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68710253,68710253,G,A,R007_S,CDH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68845562,68845562,C,T,R007_S,CDH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68847470,68847470,C,T,R007_S,CDH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69783299,69783299,G,A,R007_S,NOB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70501495,70501495,G,A,R007_S,FCSK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCSK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70509227,70509227,C,T,R007_S,FCSK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCSK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70802732,70802732,C,T,R007_S,VAC14-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,VAC14-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71015497,71015497,G,A,R007_S,HYDIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71061457,71061457,G,A,R007_S,HYDIN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HYDIN,NM_017558:c.*36C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71968088,71968088,C,T,R007_S,PKD1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,72042754,72042754,C,T,R007_S,DHODH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHODH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74760053,74760053,G,A,R007_S,FA2H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FA2H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74985473,74985473,G,A,R007_S,WDR59,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR59,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75147818,75147818,G,A,R007_S,LDHD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDHD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75149436,75149436,C,T,R007_S,LDHD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDHD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75539273,75539273,C,T,R007_S,CHST6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CHST6;CHST5,dist=9934;dist=23155,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75665536,75665536,C,T,R007_S,KARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75678154,75678154,G,A,R007_S,KARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,77465526,77465526,C,T,R007_S,ADAMTS18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,77859368,77859368,C,T,R007_S,VAT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81972547,81972547,C,T,R007_S,PLCG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,82069326,82069326,G,A,R007_S,HSD17B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,82101760,82101760,C,T,R007_S,HSD17B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84035417,84035417,C,T,R007_S,NECAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84046756,84046756,G,A,R007_S,SLC38A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84228647,84228647,C,T,R007_S,LOC654780,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC654780,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84230381,84230381,C,T,R007_S,LOC654780,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC654780,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84879527,84879527,C,T,R007_S,CRISPLD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRISPLD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,85948187,85948187,C,T,R007_S,IRF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88689622,88689622,C,T,R007_S,ZC3H18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88717168,88717168,G,A,R007_S,CYBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88780042,88780042,C,T,R007_S,CTU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88783180,88783180,C,T,R007_S,PIEZO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIEZO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88925249,88925249,T,C,R007_S,TRAPPC2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89211829,89211829,C,T,R007_S,ACSF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89345232,89345232,G,A,R007_S,ANKRD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89357717,89357717,G,A,R007_S,ANKRD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89590314,89590314,C,T,R007_S,SPG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89657526,89657526,C,T,R007_S,CPNE7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89704198,89704198,C,T,R007_S,DPEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89762317,89762317,C,T,R007_S,CDK10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDK10,NM_001098533:c.*217C>T;NM_052988:c.*217C>T;NM_001160367:c.*217C>T;NM_052987:c.*134C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89805529,89805529,C,T,R007_S,ZNF276,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF276,NM_152287:c.*875C>T;NM_001113525:c.*875C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89806022,89806022,G,A,R007_S,ZNF276,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF276,NM_152287:c.*1368G>A;NM_001113525:c.*1368G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89845275,89845275,G,A,R007_S,FANCA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89877032,89877032,C,T,R007_S,FANCA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89925534,89925534,G,A,R007_S,SPIRE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPIRE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,263921,263921,C,T,R007_S,C17orf97,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C17orf97,NM_001013672:c.*15C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,456585,456585,G,A,R007_S,VPS53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,527013,527013,G,A,R007_S,VPS53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,962200,962200,C,T,R007_S,ABR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1359458,1359458,C,T,R007_S,CRK,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CRK,NM_005206:c.-47G>A;NM_016823:c.-47G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1368900,1368900,C,T,R007_S,MYO1C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYO1C,NM_033375:c.*120G>A;NM_001363855:c.*120G>A;NM_001080950:c.*120G>A;NM_001080779:c.*120G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1370676,1370676,G,A,R007_S,MYO1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1461995,1461995,C,T,R007_S,PITPNA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1554050,1554050,C,T,R007_S,PRPF8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRPF8,NM_006445:c.*46G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1617127,1617127,C,T,R007_S,MIR22HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR22HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1780462,1780462,C,T,R007_S,RPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1940015,1940015,G,A,R007_S,DPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1985092,1985092,G,A,R007_S,SMG6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMG6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2238451,2238451,C,T,R007_S,TSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2280227,2280227,C,T,R007_S,SGSM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2607917,2607917,G,A,R007_S,CLUH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLUH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3214709,3214709,C,T,R007_S,OR3A4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR3A4P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3448637,3448637,G,A,R007_S,TRPV3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3480349,3480349,C,T,R007_S,TRPV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3593986,3593986,G,A,R007_S,P2RX5-TAX1BP3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,P2RX5-TAX1BP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3648974,3648974,G,A,R007_S,ITGAE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3655220,3655220,C,T,R007_S,ITGAE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3807978,3807978,C,T,R007_S,P2RX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P2RX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3828832,3828832,G,A,R007_S,ATP2A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3945695,3945695,C,T,R007_S,ZZEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3953218,3953218,C,T,R007_S,ZZEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3981059,3981059,C,T,R007_S,ZZEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4077406,4077406,C,T,R007_S,ANKFY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKFY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4712518,4712518,G,A,R007_S,PLD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4712549,4712549,G,A,R007_S,PLD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4720187,4720187,G,A,R007_S,PLD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4720440,4720440,G,A,R007_S,PLD2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PLD2,NM_002663:exon17:c.1702-1G>A;NM_001243108:exon17:c.1702-1G>A,NA,NA,.,.,D,.,.,.
chr17,4796231,4796231,C,T,R007_S,MINK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MINK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4863633,4863633,G,A,R007_S,SPAG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4885355,4885355,G,A,R007_S,CAMTA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMTA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5314179,5314179,C,T,R007_S,NUP88,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP88,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5445403,5445403,C,T,R007_S,NLRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6502543,6502543,C,T,R007_S,KIAA0753,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0753,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6515547,6515547,G,A,R007_S,KIAA0753,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0753,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6663716,6663716,C,T,R007_S,XAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6902554,6902554,C,T,R007_S,ALOX12-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ALOX12-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6902559,6902559,G,A,R007_S,ALOX12-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ALOX12-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7111358,7111358,G,T,R007_S,DLG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7121195,7121195,G,A,R007_S,ACADVL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACADVL;DLG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7125406,7125406,C,T,R007_S,ACADVL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACADVL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7144881,7144881,C,T,R007_S,GABARAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABARAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7144912,7144912,G,A,R007_S,GABARAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABARAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7187518,7187518,C,T,R007_S,SLC2A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7226533,7226533,G,A,R007_S,NEURL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEURL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7250321,7250321,G,A,R007_S,ACAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7251844,7251844,C,T,R007_S,ACAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7296781,7296781,C,T,R007_S,TMEM256-PLSCR3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMEM256-PLSCR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7317893,7317893,G,A,R007_S,NLGN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLGN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7460031,7460031,C,T,R007_S,TNFSF12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFSF12;TNFSF12-TNFSF13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7483669,7483669,G,A,R007_S,CD68,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7490194,7490194,G,A,R007_S,MPDU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPDU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7646240,7646240,C,T,R007_S,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7689868,7689868,C,T,R007_S,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7749070,7749070,C,T,R007_S,KDM6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7834925,7834925,G,A,R007_S,TRAPPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7852491,7852491,G,A,R007_S,CNTROB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTROB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7910651,7910651,C,T,R007_S,GUCY2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8045489,8045489,C,A,R007_S,PER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8168832,8168832,G,A,R007_S,PFAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8478461,8478461,G,A,R007_S,MYH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9737075,9737075,C,T,R007_S,GLP2R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLP2R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9828759,9828759,C,T,R007_S,GAS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9943087,9943087,G,A,R007_S,GAS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10366765,10366765,C,T,R007_S,MYHAS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10428693,10428693,G,A,R007_S,MYHAS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10632954,10632954,C,T,R007_S,TMEM220,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM220,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,11166637,11166637,C,T,R007_S,SHISA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHISA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12018829,12018829,G,A,R007_S,MAP2K4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12569398,12569398,G,A,R007_S,MYOCD,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MYOCD,NM_001146312:c.-108G>A;NM_153604:c.-108G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12820463,12820463,T,C,R007_S,ARHGAP44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15162374,15162374,C,T,R007_S,PMP22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PMP22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15342559,15342559,G,A,R007_S,CDRT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDRT4;TVP23C-CDRT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15990523,15990523,C,T,R007_S,NCOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16467279,16467279,C,T,R007_S,ZNF287,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF287,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17165421,17165421,C,T,R007_S,COPS3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,COPS3,NM_003653:exon7:c.622-1G>A;NM_001316358:exon5:c.307-1G>A;NM_001316357:exon6:c.307-1G>A;NM_001316356:exon6:c.421-1G>A;NM_001316354:exon7:c.232-1G>A;NM_001316355:exon7:c.622-1G>A;NM_001199125:exon7:c.562-1G>A,NA,NA,.,.,D,.,.,.
chr17,17398404,17398404,C,T,R007_S,RASD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RASD1,NM_016084:c.*35G>A;NM_001199989:c.*438G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17968674,17968674,C,T,R007_S,GID4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GID4,NM_024052:c.*117C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18029807,18029807,G,A,R007_S,MYO15A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO15A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18040894,18040894,G,A,R007_S,MYO15A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO15A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18061000,18061000,C,T,R007_S,MYO15A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO15A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18075666,18075666,C,T,R007_S,MYO15A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO15A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18133400,18133400,C,T,R007_S,LLGL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LLGL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18137077,18137077,C,T,R007_S,LLGL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LLGL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18226436,18226436,G,A,R007_S,SMCR8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SMCR8,NM_144775:c.*52G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18286965,18286965,C,T,R007_S,EVPLL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EVPLL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19263781,19263781,G,A,R007_S,B9D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B9D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19641580,19641580,C,T,R007_S,ALDH3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19646209,19646209,G,A,R007_S,ALDH3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19681093,19681093,G,A,R007_S,ULK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ULK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20107609,20107609,C,T,R007_S,SPECC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPECC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20908323,20908323,G,A,R007_S,USP22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,25932881,25932881,C,T,R007_S,KSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,25944891,25944891,G,A,R007_S,KSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26731628,26731628,C,T,R007_S,SLC46A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC46A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26854212,26854212,G,A,R007_S,FOXN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26898264,26898264,C,T,R007_S,PIGS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26970577,26970577,C,T,R007_S,KIAA0100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27027317,27027317,G,A,R007_S,SUPT6H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPT6H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27042161,27042161,G,A,R007_S,RAB34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27185265,27185265,G,A,R007_S,ERAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27188583,27188583,G,A,R007_S,MIR144,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR144,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27401283,27401283,G,A,R007_S,TIAF1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TIAF1;MYO18A,NM_004740:c.-66C>T;NM_001346765:c.*505C>T;NM_001346767:c.*505C>T;NM_203318:c.*505C>T;NM_078471:c.*505C>T;NM_001346766:c.*505C>T;NM_001346768:c.*505C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27446540,27446540,G,A,R007_S,MYO18A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO18A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27898569,27898569,G,A,R007_S,TP53I13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TP53I13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27904768,27904768,G,A,R007_S,GIT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27910686,27910686,C,T,R007_S,GIT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27939128,27939128,G,A,R007_S,ANKRD13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27942681,27942681,C,T,R007_S,CORO6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CORO6,NM_001351301:c.*69G>A;NM_001351302:c.*69G>A;NM_032854:c.*69G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28545954,28545954,G,A,R007_S,SLC6A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28598485,28598485,G,A,R007_S,BLMH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLMH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29119440,29119440,G,A,R007_S,SUZ12P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SUZ12P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29298075,29298075,C,T,R007_S,RNF135,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RNF135,NM_001184992:c.-17C>T;NM_197939:c.-17C>T;NM_032322:c.-17C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30478378,30478378,C,T,R007_S,ARGFXP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ARGFXP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30667017,30667017,G,A,R007_S,C17orf75,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C17orf75,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,31344714,31344714,G,A,R007_S,ASIC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASIC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,32905852,32905852,C,T,R007_S,C17orf102,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C17orf102,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33330180,33330180,G,A,R007_S,LIG3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LIG3,NM_002311:c.*113G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33448388,33448388,C,T,R007_S,RAD51L3-RFFL,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RAD51L3-RFFL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33448503,33448503,C,T,R007_S,RAD51L3-RFFL,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RAD51L3-RFFL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33459343,33459343,C,T,R007_S,NLE1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NLE1,NM_018096:c.*113G>A;NM_001014445:c.*113G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33463183,33463183,C,T,R007_S,NLE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33814851,33814851,C,T,R007_S,SLFN12L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLFN12L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34136542,34136542,G,A,R007_S,TAF15,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TAF15,NM_003487:c.-32G>A;NM_139215:c.-32G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34205767,34205767,C,T,R007_S,CCL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34326078,34326078,C,T,R007_S,CCL15-CCL14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCL15-CCL14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34910592,34910592,G,A,R007_S,GGNBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GGNBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35766505,35766505,C,T,R007_S,ACACA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ACACA,NM_198834:c.-116G>A;NM_198839:c.-79166G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35939429,35939429,G,A,R007_S,SYNRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36214115,36214115,G,A,R007_S,YWHAEP7,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,YWHAEP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36551478,36551478,C,T,R007_S,SOCS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOCS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36716526,36716526,C,T,R007_S,SRCIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRCIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36876619,36876619,C,T,R007_S,MLLT6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLLT6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36892548,36892548,G,A,R007_S,PCGF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCGF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36966921,36966921,C,T,R007_S,CWC25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CWC25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37223968,37223968,C,T,R007_S,RDM1P5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RDM1P5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37318785,37318785,C,T,R007_S,ARL5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37321801,37321801,G,A,R007_S,ARL5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37341440,37341440,G,A,R007_S,CACNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37349740,37349740,C,T,R007_S,CACNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37786216,37786216,C,T,R007_S,PPP1R1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37809758,37809758,C,T,R007_S,STARD3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STARD3,NM_001165938:c.-27C>T;NM_001165937:c.-27C>T;NM_006804:c.-27C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37886634,37886634,C,T,R007_S,MIEN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIEN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37900730,37900730,C,T,R007_S,GRB7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRB7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38128496,38128496,C,T,R007_S,GSDMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSDMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38132002,38132002,G,A,R007_S,GSDMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSDMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38172945,38172945,C,T,R007_S,CSF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38240000,38240000,C,T,R007_S,THRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38345337,38345337,C,T,R007_S,RAPGEFL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEFL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38349286,38349286,G,A,R007_S,RAPGEFL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEFL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39123140,39123140,C,T,R007_S,KRT39,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KRT39,NM_213656:c.-32G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39620828,39620828,C,T,R007_S,KRT32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39642577,39642577,G,A,R007_S,KRT36,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRT36,NM_003771:c.*51C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39681549,39681549,G,A,R007_S,KRT19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39741181,39741181,C,T,R007_S,KRT14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39919648,39919648,G,A,R007_S,JUP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JUP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39991953,39991953,G,A,R007_S,KLHL10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KLHL10,NM_001329595:c.-2232G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40128730,40128730,G,A,R007_S,CNP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CNP;DNAJC7,NM_033133:c.*2788G>A;NM_001330216:c.*2788G>A;NM_001144766:c.*21C>T;NM_003315:c.*21C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40141621,40141621,C,T,R007_S,DNAJC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40254414,40254414,C,T,R007_S,DHX58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40266116,40266116,C,T,R007_S,KAT2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40267669,40267669,C,T,R007_S,KAT2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40337310,40337310,C,T,R007_S,HCRT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40461637,40461637,G,A,R007_S,STAT5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40716699,40716699,C,T,R007_S,COASY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COASY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40725719,40725719,G,A,R007_S,PSMC3IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMC3IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40823585,40823585,G,A,R007_S,PLEKHH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40879652,40879652,C,T,R007_S,EZH1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,EZH1,NM_001321079:exon3:c.264+1G>A;NM_001991:exon4:c.246+1G>A;NM_001321082:exon4:c.246+1G>A,NA,NA,.,.,D,.,.,.
chr17,40948666,40948666,C,T,R007_S,WNK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41613727,41613727,C,T,R007_S,DHX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX8;ETV4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41859141,41859141,G,A,R007_S,CFAP97D1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CFAP97D1,NM_001136483:exon3:c.196-1G>A;NM_001353400:exon3:c.196-1G>A,NA,NA,.,.,D,.,.,.
chr17,41931463,41931463,G,A,R007_S,CD300LG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD300LG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41934931,41934931,G,A,R007_S,CD300LG,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CD300LG,NM_001168324:c.*28G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41935270,41935270,G,A,R007_S,CD300LG,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CD300LG,NM_001168322:c.*74G>A;NM_001168323:c.*74G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41975785,41975785,C,T,R007_S,MPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42085184,42085184,C,T,R007_S,NAGS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAGS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42194753,42194753,C,T,R007_S,LOC105371789,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105371789,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42232427,42232427,G,A,R007_S,C17orf53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C17orf53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42390906,42390906,C,T,R007_S,RUNDC3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNDC3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42392700,42392700,C,T,R007_S,RUNDC3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNDC3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42393678,42393678,C,T,R007_S,RUNDC3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNDC3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42437566,42437566,C,T,R007_S,FAM171A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM171A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42461827,42461827,C,T,R007_S,ITGA2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43006125,43006125,C,T,R007_S,KIF18B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF18B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43107378,43107378,G,A,R007_S,DCAKD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAKD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43214653,43214653,G,A,R007_S,ACBD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACBD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43309950,43309950,G,A,R007_S,FMNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43322593,43322593,C,T,R007_S,FMNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43364743,43364743,G,A,R007_S,MAP3K14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43559774,43559774,C,T,R007_S,PLEKHM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43719169,43719169,C,T,R007_S,LINC02210,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02210,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43911320,43911320,C,T,R007_S,CRHR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRHR1;LINC02210-CRHR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44110690,44110690,C,T,R007_S,KANSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44160001,44160001,C,T,R007_S,KANSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45378073,45378073,C,T,R007_S,ITGB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46058903,46058903,C,T,R007_S,CDK5RAP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDK5RAP3,NM_001278197:c.*35C>T;NM_001278217:c.*35C>T;NM_001278216:c.*35C>T;NM_176096:c.*35C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46114181,46114181,G,A,R007_S,COPZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46262058,46262058,G,A,R007_S,SKAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47041853,47041853,G,A,R007_S,GIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47044624,47044624,G,A,R007_S,GIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47490653,47490653,C,T,R007_S,PHB,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PHB,NM_001281715:c.-27G>A;NM_001281497:c.-27G>A;NM_001281496:c.-27G>A;NM_002634:c.-27G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47893302,47893302,G,A,R007_S,KAT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47903663,47903663,G,A,R007_S,KAT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48046703,48046703,G,A,R007_S,DLX4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DLX4,NM_138281:c.-130G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48142040,48142040,G,A,R007_S,ITGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48151378,48151378,G,A,R007_S,ITGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48268732,48268732,G,A,R007_S,COL1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48268948,48268948,G,A,R007_S,COL1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48269304,48269304,C,T,R007_S,COL1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48605709,48605709,C,T,R007_S,MYCBPAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYCBPAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48687353,48687353,C,A,R007_S,CACNA1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48712652,48712652,C,T,R007_S,ABCC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC3,NA,NA,NA,.,.,N,.,D,T
chr17,48752880,48752880,G,A,R007_S,ABCC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,49067335,49067335,C,T,R007_S,SPAG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56274672,56274672,C,T,R007_S,EPX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56283304,56283304,C,T,R007_S,MKS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MKS1,NM_001165927:c.*136G>A;NM_017777:c.*136G>A;NM_001321268:c.*136G>A;NM_001321269:c.*47G>A;NM_001330397:c.*228G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56413231,56413231,G,A,R007_S,TSPOAP1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TSPOAP1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56434692,56434692,G,A,R007_S,RNF43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56438334,56438334,G,A,R007_S,RNF43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57697669,57697669,G,A,R007_S,CLTC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58503499,58503499,C,T,R007_S,C17orf64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C17orf64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58952156,58952156,C,T,R007_S,BCAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,59479357,59479357,C,T,R007_S,TBX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60217165,60217165,C,T,R007_S,MED13,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MED13;TBC1D3P2,dist=74526;dist=124902,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60689662,60689662,C,T,R007_S,TLK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60743633,60743633,G,A,R007_S,MRC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60744237,60744237,G,A,R007_S,MRC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61570700,61570700,G,A,R007_S,ACE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61574934,61574934,C,T,R007_S,ACE,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ACE,NM_000789:c.*207C>T;NM_001178057:c.*207C>T;NM_152830:c.*207C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61767784,61767784,C,T,R007_S,MAP3K3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61888548,61888548,G,A,R007_S,DDX42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61907584,61907584,G,A,R007_S,PSMC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62080930,62080930,C,T,R007_S,PRR29,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRR29,NM_001191031:c.*1855C>T;NM_001191029:c.*1595C>T;NM_001191030:c.*1809C>T;NM_001164257:c.*1809C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62517674,62517674,C,T,R007_S,CEP95,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP95,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,63223264,63223264,C,T,R007_S,RGS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,64875060,64875060,G,A,R007_S,CACNG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65346528,65346528,G,A,R007_S,PSMD12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66992015,66992015,G,A,R007_S,ABCA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67219829,67219829,G,A,R007_S,ABCA10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71389660,71389660,C,T,R007_S,SDK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72352432,72352432,C,T,R007_S,BTBD17,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,BTBD17;KIF19,dist=124,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72445018,72445018,C,T,R007_S,GPRC5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPRC5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72470610,72470610,C,T,R007_S,CD300A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD300A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72477324,72477324,G,A,R007_S,CD300A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD300A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72619699,72619699,C,T,R007_S,LOC101928343,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928343,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72736868,72736868,C,T,R007_S,RAB37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73214402,73214402,G,A,R007_S,NUP85,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NUP85,NM_001330472:exon7:c.597+1G>A;NM_001303276:exon6:c.459+1G>A;NM_024844:exon7:c.597+1G>A,NA,NA,.,.,D,.,.,.
chr17,73328917,73328917,C,T,R007_S,GRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73389795,73389795,C,T,R007_S,GRB2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GRB2,NM_002086:c.-86G>A;NM_203506:c.-86G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73513050,73513050,C,T,R007_S,TSEN54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSEN54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73621553,73621553,C,T,R007_S,MYO15B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO15B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73738877,73738877,G,A,R007_S,ITGB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73748668,73748668,G,A,R007_S,ITGB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73760457,73760457,C,T,R007_S,GALK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73775127,73775127,C,T,R007_S,H3F3B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,H3F3B,NM_005324:exon2:c.128+1G>A,NA,NA,.,.,D,.,.,.
chr17,73811149,73811149,G,A,R007_S,UNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74349856,74349856,C,T,R007_S,PRPSAP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PRPSAP1,NM_002766:c.-72G>A;NM_001330503:c.-21359G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74381836,74381836,G,A,R007_S,SPHK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPHK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74539057,74539057,G,A,R007_S,PRCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74540635,74540635,G,A,R007_S,PRCD,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRCD,NM_001077620:c.*903G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74898590,74898590,G,A,R007_S,MGAT5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAT5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,75187408,75187408,C,T,R007_S,SEC14L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC14L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,75277664,75277664,G,A,R007_S,SEPTIN9-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SEPTIN9-DT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,75316407,75316407,G,A,R007_S,SEPTIN9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SEPTIN9,NM_006640:c.-2G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,75425313,75425313,G,A,R007_S,SEPTIN9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPTIN9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76227632,76227632,G,A,R007_S,TMEM235,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TMEM235,NM_001204212:c.-473G>A;NM_001204210:c.-473G>A;NM_001204211:c.-473G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76424940,76424940,C,T,R007_S,DNAH17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76557769,76557769,C,T,R007_S,DNAH17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76968998,76968998,G,A,R007_S,LGALS3BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS3BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76973173,76973173,C,T,R007_S,LGALS3BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS3BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77079027,77079027,C,T,R007_S,ENGASE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENGASE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77092715,77092715,C,T,R007_S,RBFOX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78022617,78022617,C,T,R007_S,CCDC40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78081297,78081297,C,T,R007_S,GAA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78109799,78109799,C,T,R007_S,EIF4A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78164471,78164471,G,A,R007_S,CARD14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78354855,78354855,C,T,R007_S,RNF213-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RNF213-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78362496,78362496,C,T,R007_S,RNF213-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RNF213-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78398808,78398808,C,T,R007_S,ENDOV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENDOV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78399158,78399158,C,T,R007_S,ENDOV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENDOV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78829187,78829187,G,A,R007_S,RPTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78858771,78858771,G,A,R007_S,RPTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78971219,78971219,C,T,R007_S,CHMP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHMP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79059262,79059262,G,A,R007_S,BAIAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79059553,79059553,G,A,R007_S,BAIAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79093956,79093956,G,A,R007_S,AATK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AATK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79164666,79164666,C,T,R007_S,CEP131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79164959,79164959,C,T,R007_S,CEP131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79205305,79205305,G,A,R007_S,LOC105371925,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105371925,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79279314,79279314,C,T,R007_S,LINC00482,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00482,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79385391,79385391,C,T,R007_S,BAHCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAHCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79425798,79425798,C,T,R007_S,BAHCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAHCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79427862,79427862,G,A,R007_S,BAHCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAHCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79497200,79497200,G,A,R007_S,FSCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79514788,79514788,C,T,R007_S,FAAP100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAAP100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79573895,79573895,G,A,R007_S,NPLOC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPLOC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79623614,79623614,G,A,R007_S,PDE6G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE6G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79657113,79657113,G,A,R007_S,HGS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HGS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79852319,79852319,G,A,R007_S,ANAPC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANAPC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79866635,79866635,G,A,R007_S,PCYT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCYT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79967592,79967592,G,A,R007_S,ASPSCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79969944,79969944,G,A,R007_S,ASPSCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79974606,79974606,G,A,R007_S,ASPSCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79990762,79990762,G,A,R007_S,RAC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80008510,80008510,C,T,R007_S,RFNG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFNG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80014274,80014274,C,T,R007_S,GPS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80018896,80018896,C,T,R007_S,DUS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80020955,80020955,C,T,R007_S,DUS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80021170,80021170,C,T,R007_S,DUS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80038162,80038162,C,T,R007_S,FASN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FASN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80040098,80040098,C,T,R007_S,FASN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FASN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80048976,80048976,C,T,R007_S,FASN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FASN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80136537,80136537,C,T,R007_S,CCDC57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80197986,80197986,C,T,R007_S,CSNK1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSNK1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80521463,80521463,C,T,R007_S,FOXK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80618924,80618924,C,T,R007_S,RAB40B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RAB40B,NM_006822:exon3:c.204-1G>A,NA,NA,.,.,D,.,.,.
chr17,80861192,80861192,G,A,R007_S,TBCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80895078,80895078,G,A,R007_S,TBCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80900481,80900481,C,T,R007_S,B3GNTL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,B3GNTL1;TBCD,NM_001009905:c.*1469G>A;NM_001320743:c.*1469G>A;NM_001320742:c.*1469G>A;NM_005993:c.*142C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,81083644,81083644,G,A,R007_S,METRNL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,METRNL;RPL23AP87,dist=30773;dist=91022,NA,NA,NA,NA,NA,NA,NA,NA
chr18,662074,662074,G,A,R007_S,TYMS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYMS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,694178,694178,C,T,R007_S,ENOSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENOSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,2982752,2982752,C,T,R007_S,LPIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPIN2,NA,NA,NA,.,.,D,T,.,T
chr18,3597051,3597051,G,A,R007_S,DLGAP1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DLGAP1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6928445,6928445,G,A,R007_S,LINC00668,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00668,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,7002409,7002409,G,A,R007_S,LAMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,8706444,8706444,C,T,R007_S,GACAT2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GACAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12066985,12066985,C,T,R007_S,IMPA2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IMPA2;ANKRD62,dist=36109;dist=26857,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12329533,12329533,G,A,R007_S,AFG3L2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AFG3L2;TUBB6,NM_006796:c.*31C>T;NM_001303525:c.*351G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12971251,12971251,G,A,R007_S,SEH1L,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SEH1L,NM_031216:exon5:c.620+1G>A;NM_001013437:exon5:c.620+1G>A,NA,NA,.,.,D,.,.,.
chr18,13069670,13069670,G,A,R007_S,CEP192,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP192,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,18548679,18548679,G,A,R007_S,ROCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19751083,19751083,C,T,R007_S,GATA6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GATA6,NM_005257:c.-23C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,20936454,20936454,C,T,R007_S,TMEM241,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM241,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21121014,21121014,C,T,R007_S,NPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21197601,21197601,G,A,R007_S,ANKRD29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21649063,21649063,G,A,R007_S,TTC39C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC39C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,22902269,22902269,G,A,R007_S,ZNF521,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF521,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,30093436,30093436,C,T,R007_S,WBP11P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WBP11P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,32864457,32864457,C,T,R007_S,ZSCAN30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,33514100,33514100,G,A,R007_S,MIR3929,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR3929,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,33514104,33514104,C,T,R007_S,MIR3929,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR3929,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43447435,43447435,G,A,R007_S,EPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44221841,44221841,C,T,R007_S,LOXHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOXHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44336285,44336285,C,T,R007_S,ST8SIA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST8SIA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,45556361,45556361,G,A,R007_S,ZBTB7C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB7C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,46145877,46145877,C,T,R007_S,CTIF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTIF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,47017960,47017960,G,A,R007_S,RPL17,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RPL17,NM_000985:c.-19C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,47794178,47794178,G,A,R007_S,MBD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,51751003,51751003,C,T,R007_S,MBD2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MBD2,NM_003927:c.-74G>A;NM_015832:c.-74G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr18,52546599,52546599,G,A,R007_S,RAB27B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RAB27B,NM_004163:exon3:c.154-1G>A,NA,NA,.,.,D,.,.,.
chr18,52921981,52921981,C,T,R007_S,TCF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,55238813,55238813,C,T,R007_S,FECH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FECH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,56057862,56057862,C,T,R007_S,NEDD4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEDD4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,56182210,56182210,G,A,R007_S,ALPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,57016332,57016332,C,T,R007_S,LMAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,59821727,59821727,A,G,R007_S,PIGN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,59947582,59947582,C,T,R007_S,RELCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61223589,61223589,G,A,R007_S,SERPINB12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,72113801,72113801,C,T,R007_S,DIPK1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIPK1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,74671893,74671893,G,A,R007_S,ZNF236,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF236,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77063544,77063544,G,A,R007_S,ATP9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77724929,77724929,C,T,R007_S,HSBP1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSBP1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77796802,77796802,G,A,R007_S,RBFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,291271,291271,C,T,R007_S,PLPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,371123,371123,C,T,R007_S,THEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,425040,425040,C,T,R007_S,SHC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,430667,430667,G,A,R007_S,SHC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,467499,467499,C,T,R007_S,ODF3L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ODF3L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,590688,590688,C,T,R007_S,HCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,641138,641138,C,T,R007_S,FGF22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,662945,662945,C,T,R007_S,RNF126,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF126,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,734014,734014,C,T,R007_S,PALM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PALM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,829714,829714,G,A,R007_S,AZU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AZU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,855950,855950,C,T,R007_S,ELANE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELANE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,856266,856266,C,T,R007_S,ELANE,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,ELANE,dist=23,NA,NA,NA,NA,NA,NA,NA,NA
chr19,990365,990365,G,A,R007_S,WDR18,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,WDR18,NM_024100:exon4:c.597+1G>A,NA,NA,.,.,D,.,.,.
chr19,1041494,1041494,C,T,R007_S,ABCA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1105129,1105129,G,A,R007_S,GPX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1109277,1109277,C,T,R007_S,SBNO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBNO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1257322,1257322,G,A,R007_S,MIDN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MIDN,NM_177401:c.*51G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1298629,1298629,G,A,R007_S,EFNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1356565,1356565,G,A,R007_S,PWWP3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PWWP3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1388503,1388503,C,T,R007_S,NDUFS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1388644,1388644,C,T,R007_S,NDUFS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1465148,1465148,C,T,R007_S,APC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1487581,1487581,C,T,R007_S,PCSK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1489791,1489791,C,T,R007_S,PCSK4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PCSK4,NM_017573:exon2:c.294+1G>A,NA,NA,.,.,D,.,.,.
chr19,1531682,1531682,C,T,R007_S,PLK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1622236,1622236,C,T,R007_S,TCF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1622295,1622295,C,T,R007_S,TCF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1783327,1783327,C,T,R007_S,ATP8B3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1905465,1905465,G,A,R007_S,ADAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAT3;SCAMP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1990710,1990710,C,T,R007_S,BTBD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTBD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2042916,2042916,C,T,R007_S,MKNK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MKNK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2098814,2098814,C,T,R007_S,IZUMO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IZUMO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2099038,2099038,C,T,R007_S,IZUMO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IZUMO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2116319,2116319,G,A,R007_S,AP3D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2132465,2132465,C,T,R007_S,AP3D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2244539,2244539,C,T,R007_S,SF3A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF3A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2399274,2399274,C,T,R007_S,TMPRSS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2418240,2418240,C,T,R007_S,TMPRSS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2643173,2643173,G,A,R007_S,GNG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2982271,2982271,C,G,R007_S,TLE6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3000739,3000739,G,A,R007_S,TLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3005611,3005611,C,T,R007_S,TLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3005650,3005650,C,T,R007_S,TLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3456732,3456732,C,T,R007_S,NFIC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFIC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3574680,3574680,C,T,R007_S,HMG20B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMG20B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3578580,3578580,C,T,R007_S,HMG20B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HMG20B,NM_006339:c.*61C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3579137,3579137,C,T,R007_S,HMG20B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HMG20B,dist=56,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3589943,3589943,G,A,R007_S,GIPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3590264,3590264,C,T,R007_S,GIPC3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GIPC3,NM_133261:c.*76C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3648565,3648565,C,T,R007_S,PIP5K1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP5K1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3729916,3729916,C,T,R007_S,TJP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TJP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3731908,3731908,C,T,R007_S,TJP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TJP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3827670,3827670,G,A,R007_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3908467,3908467,G,A,R007_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4110499,4110499,G,T,R007_S,MAP2K2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4157425,4157425,C,T,R007_S,CREB3L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CREB3L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4177363,4177363,C,T,R007_S,SIRT6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4261870,4261870,C,T,R007_S,YJU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YJU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4400228,4400228,C,T,R007_S,SH3GL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3GL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4453219,4453219,G,A,R007_S,UBXN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBXN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4552693,4552693,C,A,R007_S,SEMA6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4555583,4555583,G,A,R007_S,SEMA6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4769526,4769526,G,A,R007_S,MIR7-3HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR7-3HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5077556,5077556,C,T,R007_S,KDM4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5111383,5111383,C,T,R007_S,KDM4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5112071,5112071,C,T,R007_S,KDM4B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KDM4B,NM_001370093:c.*224C>T;NM_001370094:c.*111C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5590234,5590234,C,T,R007_S,SAFB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAFB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5622749,5622749,C,T,R007_S,SAFB2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SAFB2,NM_014649:c.-23G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5664498,5664498,G,A,R007_S,SAFB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAFB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5831470,5831470,C,T,R007_S,FUT6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FUT6,NM_001369502:c.*29G>A;NM_001369504:c.*29G>A;NM_001369505:c.*29G>A;NM_000150:c.*29G>A;NM_001040701:c.*29G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5892375,5892375,G,A,R007_S,NDUFA11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NDUFA11,NM_001193375:c.*553C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6216401,6216401,C,T,R007_S,MLLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6222127,6222127,C,T,R007_S,MLLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6270822,6270822,G,A,R007_S,MLLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6366235,6366235,C,T,R007_S,CLPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLPP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6429906,6429906,G,A,R007_S,SLC25A41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6456039,6456039,G,A,R007_S,SLC25A23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6470208,6470208,G,A,R007_S,DENND1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6684921,6684921,C,T,R007_S,C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6711254,6711254,C,T,R007_S,C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6739928,6739928,C,T,R007_S,TRIP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6746426,6746426,C,T,R007_S,TRIP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6750477,6750477,G,A,R007_S,TRIP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6957151,6957151,C,T,R007_S,ADGRE4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ADGRE4P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6960236,6960236,G,A,R007_S,ADGRE4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ADGRE4P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7081469,7081469,G,A,R007_S,ZNF557,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF557,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7533628,7533628,C,T,R007_S,ARHGEF18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7615797,7615797,G,A,R007_S,PNPLA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7620435,7620435,G,A,R007_S,PNPLA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7704596,7704596,C,T,R007_S,STXBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STXBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7735305,7735305,G,A,R007_S,RETN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RETN,NM_020415:c.*70G>A;NM_001193374:c.*70G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7833939,7833939,C,T,R007_S,CLEC4M,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CLEC4M,NM_014257:c.*65C>T;NM_001144906:c.*65C>T;NM_001144907:c.*65C>T;NM_001144908:c.*177C>T;NM_001144909:c.*65C>T;NM_001144910:c.*65C>T;NM_001144911:c.*177C>T;NM_001144904:c.*65C>T;NM_001144905:c.*65C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7934600,7934600,C,T,R007_S,PRR36,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PRR36,NM_001190467:exon6:c.3528+1G>A,NA,NA,.,.,D,.,.,.
chr19,7944453,7944453,G,A,R007_S,LYPLA2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LYPLA2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7969195,7969195,C,T,R007_S,MAP2K7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7982250,7982250,G,A,R007_S,TGFBR3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGFBR3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7997895,7997895,C,T,R007_S,TIMM44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMM44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8067184,8067184,C,T,R007_S,ELAVL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAVL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8175695,8175695,C,T,R007_S,FBN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8319143,8319143,C,T,R007_S,CERS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8435927,8435927,C,T,R007_S,ANGPTL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPTL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8552064,8552064,C,T,R007_S,HNRNPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8601812,8601812,G,A,R007_S,MYO1F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8933508,8933508,C,T,R007_S,ZNF558,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF558,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8962102,8962102,C,T,R007_S,MUC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9016878,9016878,C,T,R007_S,MUC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10158214,10158214,A,G,R007_S,C3P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C3P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10230293,10230293,C,T,R007_S,EIF3G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10246397,10246397,C,T,R007_S,DNMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10250590,10250590,C,T,R007_S,DNMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10279051,10279051,G,A,R007_S,DNMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10416505,10416505,G,A,R007_S,ZGLP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZGLP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10443926,10443926,G,A,R007_S,RAVER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAVER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10475455,10475455,C,T,R007_S,TYK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10506051,10506051,G,A,R007_S,CDC37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10527673,10527673,G,A,R007_S,PDE4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10559559,10559559,C,T,R007_S,PDE4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10599854,10599854,C,T,R007_S,KEAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KEAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10794256,10794256,G,A,R007_S,ILF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ILF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11030434,11030434,C,T,R007_S,CARM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11098209,11098209,C,T,R007_S,SMARCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11113939,11113939,C,T,R007_S,SMARCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11337957,11337957,C,T,R007_S,DOCK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11356603,11356603,C,T,R007_S,DOCK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11363282,11363282,C,T,R007_S,DOCK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11453415,11453415,C,T,R007_S,TMEM205,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,TMEM205,dist=37,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11515753,11515753,C,T,R007_S,RGL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11541611,11541611,G,A,R007_S,CCDC151,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC151,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11598026,11598026,C,T,R007_S,ZNF653,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF653,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11649729,11649729,G,A,R007_S,CNN1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CNN1,NM_001308341:c.-2249G>A;NM_001308342:c.-2249G>A;NM_001299:c.-14G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12017040,12017040,G,A,R007_S,ZNF69,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF69,NM_001364730:c.*127G>A;NM_001364731:c.*127G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12164215,12164215,C,T,R007_S,ZNF878,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ZNF878,dist=439,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12258628,12258628,C,T,R007_S,ZNF625-ZNF20,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF625-ZNF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12386928,12386928,G,A,R007_S,ZNF44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12462238,12462238,C,T,R007_S,ZNF442,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF442,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12491458,12491458,C,T,R007_S,ZNF442,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF442;ZNF799,dist=14961;dist=9370,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12511889,12511889,C,A,R007_S,ZNF799,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF799,NM_001322498:c.-7745G>T;NM_001080821:c.-5G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12758161,12758161,G,A,R007_S,MAN2B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN2B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12786781,12786781,C,T,R007_S,DHPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12799277,12799277,C,T,R007_S,FBXW9,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,FBXW9;GNG14,dist=453,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12841771,12841771,G,A,R007_S,TRIR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRIR,NM_001329738:c.*4C>T;NM_001329739:c.*113C>T;NM_024038:c.*4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12849189,12849189,C,T,R007_S,GET3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GET3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12866883,12866883,C,T,R007_S,BEST2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BEST2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12910978,12910978,G,A,R007_S,PRDX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12949042,12949042,G,A,R007_S,MAST1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MAST1,dist=287,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13004278,13004278,C,T,R007_S,GCDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13059422,13059422,C,T,R007_S,RAD23A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD23A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13186332,13186332,C,T,R007_S,NFIX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFIX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13323345,13323345,G,A,R007_S,CACNA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13373689,13373689,G,A,R007_S,CACNA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13428138,13428138,G,A,R007_S,CACNA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13875396,13875396,C,T,R007_S,MRI1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MRI1,NM_032285:c.-7C>T;NM_001329572:c.-7C>T;NM_001031727:c.-7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13934368,13934368,C,T,R007_S,ZSWIM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13939550,13939550,C,T,R007_S,ZSWIM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13991359,13991359,G,A,R007_S,NANOS3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NANOS3,NM_001098622:c.*42G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14037774,14037774,C,T,R007_S,CC2D1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CC2D1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14049062,14049062,C,T,R007_S,PODNL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PODNL1,NM_024825:c.-68G>A;NM_001370095:c.-47G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14065323,14065323,C,T,R007_S,DCAF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14090478,14090478,C,T,R007_S,RFX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14157206,14157206,C,T,R007_S,IL27RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL27RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14194261,14194261,G,A,R007_S,C19orf67,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf67,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14194517,14194517,G,A,R007_S,C19orf67,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf67,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14302234,14302234,C,T,R007_S,ADGRL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14520287,14520287,C,T,R007_S,DDX39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14523568,14523568,C,T,R007_S,DDX39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14574588,14574588,G,A,R007_S,PKN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14591359,14591359,C,T,R007_S,GIPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14655851,14655851,C,T,R007_S,TECR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TECR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14705416,14705416,C,T,R007_S,CLEC17A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC17A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14877689,14877689,C,T,R007_S,ADGRE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14877707,14877707,C,T,R007_S,ADGRE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14975383,14975383,C,T,R007_S,OR7A10,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR7A10;OR7A17,dist=22694;dist=15855,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15132585,15132585,G,A,R007_S,CCDC105,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC105,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15166737,15166737,C,T,R007_S,CASP14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15295923,15295923,C,T,R007_S,NOTCH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOTCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15478924,15478924,G,A,R007_S,AKAP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15521446,15521446,C,T,R007_S,AKAP8L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP8L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15551271,15551271,G,A,R007_S,WIZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WIZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15560278,15560278,C,T,R007_S,WIZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WIZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15648481,15648481,C,T,R007_S,CYP4F22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15658878,15658878,C,T,R007_S,CYP4F22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15661693,15661693,C,T,R007_S,CYP4F22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15997269,15997269,G,A,R007_S,CYP4F2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16038174,16038174,G,A,R007_S,CYP4F11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16136978,16136978,C,T,R007_S,LINC00661,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00661,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16314432,16314432,C,T,R007_S,AP1M1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP1M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16435840,16435840,G,A,R007_S,KLF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16980227,16980227,G,A,R007_S,SIN3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIN3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17014459,17014459,C,T,R007_S,CPAMD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPAMD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17120103,17120103,G,A,R007_S,CPAMD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPAMD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17131248,17131248,C,T,R007_S,CPAMD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPAMD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17179946,17179946,C,T,R007_S,HAUS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAUS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17179962,17179962,C,T,R007_S,HAUS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAUS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17395096,17395096,C,T,R007_S,ANKLE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKLE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17424953,17424953,C,T,R007_S,DDA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17425126,17425126,C,T,R007_S,DDA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17440658,17440658,G,A,R007_S,ANO8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17444152,17444152,C,T,R007_S,ANO8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17634078,17634078,G,A,R007_S,NIBAN3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NIBAN3,dist=32,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17750590,17750590,C,T,R007_S,UNC13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17891982,17891982,G,A,R007_S,FCHO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCHO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17895411,17895411,C,T,R007_S,FCHO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCHO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18001847,18001847,C,T,R007_S,SLC5A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18266596,18266596,C,T,R007_S,PIK3R2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PIK3R2,NM_005027:c.-94C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18309503,18309503,C,T,R007_S,RAB3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18548795,18548795,C,T,R007_S,ISYNA1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ISYNA1,NM_016368:c.-6G>A;NM_001170938:c.-6G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18653587,18653587,C,T,R007_S,FKBP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FKBP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18684693,18684693,G,A,R007_S,UBA52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBA52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18728081,18728081,C,T,R007_S,TMEM59L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM59L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18901803,18901803,C,T,R007_S,COMP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18981517,18981517,C,T,R007_S,CERS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERS1;GDF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19032422,19032422,G,A,R007_S,DDX49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19032633,19032633,C,T,R007_S,DDX49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19040193,19040193,C,T,R007_S,HOMER3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HOMER3,NM_001145721:c.*59G>A;NM_001145724:c.*59G>A;NM_001145722:c.*59G>A;NM_004838:c.*59G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19043855,19043855,C,T,R007_S,HOMER3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,HOMER3,NM_001145721:exon6:c.412-1G>A;NM_001145724:exon4:c.304-1G>A;NM_001145722:exon6:c.412-1G>A;NM_004838:exon6:c.412-1G>A,NA,NA,.,.,D,.,.,.
chr19,19256927,19256927,C,T,R007_S,BORCS8-MEF2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BORCS8-MEF2B;MEF2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19344905,19344905,C,T,R007_S,NCAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19372142,19372142,G,A,R007_S,HAPLN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAPLN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19378327,19378327,G,A,R007_S,TM6SF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM6SF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19626260,19626260,G,A,R007_S,TSSK6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TSSK6,NM_032037:c.-24C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21491907,21491907,C,T,R007_S,ZNF708,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF708,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21511990,21511990,G,A,R007_S,ZNF708,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF708,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23444958,23444958,G,A,R007_S,IPO5P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,IPO5P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23578172,23578172,C,T,R007_S,ZNF91,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF91,NM_001300951:c.-16G>A;NM_003430:c.-16G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,30314542,30314542,C,T,R007_S,CCNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,32847710,32847710,G,A,R007_S,ZNF507,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF507,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33334630,33334630,G,A,R007_S,SLC7A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33602931,33602931,G,A,R007_S,GPATCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33621001,33621001,C,T,R007_S,GPATCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34583439,34583439,C,T,R007_S,KCTD15,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,KCTD15;LSM14A,dist=276773;dist=79970,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34856629,34856629,G,A,R007_S,GPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34869786,34869786,G,A,R007_S,GPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34945345,34945345,C,T,R007_S,UBA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34972348,34972348,C,T,R007_S,WTIP,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,WTIP,dist=315,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35270438,35270438,C,T,R007_S,ZNF599,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF599;LINC01801,dist=6318;dist=36620,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35496803,35496803,G,A,R007_S,GRAMD1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35512559,35512559,G,A,R007_S,GRAMD1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35632018,35632018,C,T,R007_S,FXYD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXYD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35639674,35639674,G,A,R007_S,FXYD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXYD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35800751,35800751,C,T,R007_S,MAG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35940608,35940608,C,T,R007_S,FFAR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FFAR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35993806,35993806,G,A,R007_S,DMKN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMKN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36001397,36001397,C,T,R007_S,DMKN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMKN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36004441,36004441,C,T,R007_S,DMKN,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DMKN,NM_001126056:c.-64G>A;NM_001190347:c.-64G>A;NM_033317:c.-64G>A;NM_001126057:c.-64G>A;NM_001126058:c.-64G>A;NM_001190348:c.-64G>A;NM_001190349:c.-64G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36029423,36029423,C,T,R007_S,GAPDHS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAPDHS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36029748,36029748,C,T,R007_S,GAPDHS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAPDHS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36049410,36049410,G,A,R007_S,ATP4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36122347,36122347,C,T,R007_S,RBM42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36159187,36159187,C,T,R007_S,UPK1A-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,UPK1A-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36218920,36218920,G,A,R007_S,KMT2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36236205,36236205,C,T,R007_S,U2AF1L4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,U2AF1L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36259611,36259611,C,T,R007_S,PROSER3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PROSER3,NM_001367856:c.*164C>T;NM_001039887:c.*164C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36342681,36342681,C,T,R007_S,NPHS1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NPHS1,NM_004646:exon1:c.58+1G>A,NA,NA,.,.,D,.,.,.
chr19,36394579,36394579,C,T,R007_S,HCST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36594112,36594112,G,A,R007_S,WDR62,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR62,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37482256,37482256,C,T,R007_S,ZNF568,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF568,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37721213,37721213,C,T,R007_S,ZNF383,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF383,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37865151,37865151,C,T,R007_S,ZNF527,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF527,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38694687,38694687,C,T,R007_S,SIPA1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIPA1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38828152,38828152,G,A,R007_S,CATSPERG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38873860,38873860,C,T,R007_S,PSMD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38946053,38946053,C,T,R007_S,RYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38969293,38969293,G,A,R007_S,RYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38973512,38973512,C,T,R007_S,RYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38993470,38993470,G,A,R007_S,RYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39026564,39026564,G,A,R007_S,RYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39098697,39098697,C,T,R007_S,MAP4K1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39104661,39104661,C,T,R007_S,MAP4K1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39107985,39107985,G,A,R007_S,MAP4K1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39221706,39221706,C,T,R007_S,ACTN4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ACTN4,NM_004924:c.*1634C>T;NM_001322033:c.*1634C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39329315,39329315,C,T,R007_S,HNRNPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39364514,39364514,G,A,R007_S,RINL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RINL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39416956,39416956,G,A,R007_S,SARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39589049,39589049,C,T,R007_S,ACP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39591739,39591739,C,T,R007_S,ACP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39759988,39759988,C,T,R007_S,IFNL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39879166,39879166,C,T,R007_S,PAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39900270,39900270,G,A,R007_S,MIR4530,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4530,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39907261,39907261,G,A,R007_S,PLEKHG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39957293,39957293,C,T,R007_S,SUPT5H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPT5H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39993727,39993727,C,T,R007_S,DLL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40093400,40093400,G,A,R007_S,LGALS13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40148494,40148494,C,T,R007_S,LGALS16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40195153,40195153,C,T,R007_S,LGALS14,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LGALS14,NM_020129:c.-16C>T;NM_203471:c.-1395C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40331568,40331568,G,A,R007_S,FBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40336716,40336716,G,A,R007_S,FBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40360785,40360785,G,A,R007_S,FCGBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCGBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40832444,40832444,C,T,R007_S,C19orf47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40954058,40954058,C,T,R007_S,BLVRB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLVRB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41008879,41008879,G,A,R007_S,SPTBN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41071500,41071500,C,T,R007_S,SPTBN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41096346,41096346,C,T,R007_S,SHKBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHKBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41119798,41119798,G,A,R007_S,LTBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41386335,41386335,C,T,R007_S,CYP2A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41512792,41512792,C,T,R007_S,CYP2B6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2B6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41629063,41629063,C,T,R007_S,CYP2F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41634049,41634049,C,T,R007_S,CYP2F1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYP2F1,NM_000774:c.*62C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41744934,41744934,G,A,R007_S,AXL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41858543,41858543,C,T,R007_S,TGFB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGFB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41944359,41944359,C,T,R007_S,DMAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42090800,42090800,C,T,R007_S,CEACAM21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42127001,42127001,C,T,R007_S,CEACAM4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CEACAM4,NM_001362495:exon4:c.543-1G>A;NM_001362492:exon3:c.425-1G>A;NM_001362493:exon3:c.183-1G>A;NM_001817:exon4:c.543-1G>A,NA,NA,.,.,N,.,.,.
chr19,42313789,42313789,C,T,R007_S,CEACAM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42352823,42352823,C,T,R007_S,DMRTC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMRTC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42392782,42392782,C,T,R007_S,ARHGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42407581,42407581,C,T,R007_S,ARHGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42626277,42626277,C,T,R007_S,POU2F2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,POU2F2,NM_001207025:exon4:c.186+1G>A;NM_001247994:exon4:c.186+1G>A;NM_002698:exon4:c.186+1G>A;NM_001207026:exon4:c.186+1G>A,NA,NA,.,.,D,.,.,.
chr19,42819500,42819500,G,A,R007_S,TMEM145,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM145,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42863207,42863207,C,T,R007_S,MEGF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42875640,42875640,G,A,R007_S,MEGF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43979503,43979503,C,T,R007_S,PHLDB3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PHLDB3,NM_198850:c.*59G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44030998,44030998,C,T,R007_S,ETHE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETHE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44101245,44101245,G,A,R007_S,ZNF576,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZNF576,NM_024327:exon2:UTR5;NM_001145347:exon2:UTR5,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44278312,44278312,C,T,R007_S,KCNN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45017063,45017063,C,T,R007_S,CEACAM20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45027034,45027034,C,T,R007_S,CEACAM20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45130894,45130894,C,T,R007_S,IGSF23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45254431,45254431,G,A,R007_S,BCL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45316439,45316439,C,T,R007_S,BCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45377166,45377166,C,T,R007_S,NECTIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECTIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45506927,45506927,G,A,R007_S,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45511734,45511734,C,T,R007_S,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45579266,45579266,C,T,R007_S,GEMIN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEMIN7;ZNF296,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45731364,45731364,G,A,R007_S,EXOC3L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC3L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45774628,45774628,C,T,R007_S,MARK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45858881,45858881,C,T,R007_S,ERCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45883434,45883434,C,T,R007_S,PPP1R13L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PPP1R13L,NM_001142502:c.*14G>A;NM_006663:c.*14G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46011074,46011074,G,A,R007_S,VASP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VASP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46024809,46024809,C,T,R007_S,VASP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VASP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46027810,46027810,C,T,R007_S,VASP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VASP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46178116,46178116,G,A,R007_S,GIPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46376412,46376412,G,A,R007_S,FOXA3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FOXA3,NM_004497:c.*96G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46498539,46498539,C,T,R007_S,CCDC61,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CCDC61,dist=186,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46520364,46520364,G,A,R007_S,CCDC61,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC61,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46651493,46651493,C,T,R007_S,IGFL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGFL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46808335,46808335,C,T,R007_S,HIF3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIF3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46808676,46808676,G,A,R007_S,HIF3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIF3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46815699,46815699,C,T,R007_S,HIF3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIF3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46891804,46891804,C,T,R007_S,PPP5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46916083,46916083,C,T,R007_S,CCDC8,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCDC8,NM_032040:c.-16G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47543877,47543877,C,T,R007_S,NPAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47544113,47544113,C,T,R007_S,NPAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47773956,47773956,C,T,R007_S,CCDC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47912601,47912601,C,T,R007_S,MEIS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47986858,47986858,C,T,R007_S,KPTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48044062,48044062,C,T,R007_S,ZNF541,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF541,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48199569,48199569,C,T,R007_S,BICRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BICRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48202512,48202512,C,T,R007_S,BICRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BICRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48229046,48229046,C,T,R007_S,EHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48239822,48239822,G,A,R007_S,EHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48259137,48259137,C,T,R007_S,SNORD23,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORD23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48259204,48259204,C,T,R007_S,SNORD23,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORD23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48339490,48339490,C,T,R007_S,CRX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48374849,48374849,G,A,R007_S,SULT2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SULT2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48734852,48734852,G,A,R007_S,CARD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48821838,48821838,C,T,R007_S,CCDC114,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC114,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48981658,48981658,C,T,R007_S,CYTH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49016549,49016549,C,T,R007_S,LMTK3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LMTK3,dist=103,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49055655,49055655,G,A,R007_S,SULT2B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SULT2B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49079085,49079085,G,A,R007_S,SULT2B1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SULT2B1,NM_004605:c.-87G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49079341,49079341,G,A,R007_S,SULT2B1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SULT2B1,NM_177973:exon2:c.214+1G>A;NM_004605:exon1:c.169+1G>A,NA,NA,.,.,D,.,.,.
chr19,49119260,49119260,C,T,R007_S,RPL18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49167143,49167143,C,T,R007_S,SEC1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SEC1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49167303,49167303,C,T,R007_S,SEC1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SEC1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49259453,49259453,G,A,R007_S,FGF21,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FGF21,NM_019113:c.-41G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49300328,49300328,C,T,R007_S,BCAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49474004,49474004,G,A,R007_S,GYS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49541751,49541751,C,T,R007_S,SNAR-G1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SNAR-G1;CGB5,dist=1347;dist=5354,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49574168,49574168,G,A,R007_S,KCNA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49692119,49692119,C,T,R007_S,TRPM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49838783,49838783,C,T,R007_S,CD37,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CD37,NM_001774:c.-15C>T;NM_001040031:c.-1445C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49952919,49952919,G,A,R007_S,PIH1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIH1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49967331,49967331,C,T,R007_S,ALDH16A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH16A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49990962,49990962,G,A,R007_S,RPL13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50123560,50123560,G,A,R007_S,PRR12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRR12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50170586,50170586,G,A,R007_S,BCL2L12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL2L12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50333259,50333259,C,T,R007_S,MED25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50365739,50365739,C,T,R007_S,PNKP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNKP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50369820,50369820,C,T,R007_S,PNKP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNKP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50384775,50384775,C,T,R007_S,TBC1D17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50387015,50387015,G,A,R007_S,TBC1D17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50497978,50497978,G,A,R007_S,VRK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VRK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50750230,50750230,C,T,R007_S,MYH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50771633,50771633,C,T,R007_S,MYH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50779212,50779212,C,T,R007_S,MYH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50805130,50805130,G,A,R007_S,MYH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50813049,50813049,C,T,R007_S,MYH14,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYH14,NM_001145809:c.*2C>T;NM_024729:c.*2C>T;NM_001077186:c.*2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50862260,50862260,C,T,R007_S,NAPSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAPSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50881387,50881387,C,T,R007_S,NR1H2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR1H2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50940722,50940722,C,T,R007_S,MYBPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50954449,50954449,C,T,R007_S,MYBPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50979283,50979283,C,T,R007_S,FAM71E1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM71E1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51128405,51128405,G,A,R007_S,SYT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51261701,51261701,C,T,R007_S,CLEC11A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CLEC11A;GPR32,dist=32736;dist=12020,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51302302,51302302,C,T,R007_S,SNORD88B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORD88B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51430745,51430745,C,T,R007_S,KLK4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,KLK4;KLK5,dist=16751;dist=15814,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51455765,51455765,C,T,R007_S,KLK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51532201,51532201,C,T,R007_S,KLK11,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,KLK11;KLK12,dist=954;dist=149,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51585954,51585954,G,A,R007_S,KLK14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51648247,51648247,G,A,R007_S,SIGLEC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIGLEC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51650269,51650269,G,A,R007_S,SIGLEC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIGLEC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51875022,51875022,G,A,R007_S,NKG7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NKG7,NM_005601:c.*9C>T;NM_001363693:c.*59C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51955988,51955988,C,T,R007_S,SIGLEC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIGLEC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52033893,52033893,C,T,R007_S,SIGLEC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIGLEC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52937380,52937380,C,T,R007_S,ZNF534,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF534,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53418397,53418397,G,A,R007_S,ZNF888,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF888,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53707089,53707089,C,T,R007_S,ZNF665,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF665;ZNF818P,dist=10478;dist=9112,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53728011,53728011,C,T,R007_S,ZNF818P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF818P;ZNF677,dist=8656;dist=10623,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53793164,53793164,C,T,R007_S,BIRC8,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,BIRC8,NA,NA,NA,T,.,N,T,N,T
chr19,53849582,53849582,C,T,R007_S,ZNF845,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF845,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54204303,54204303,T,G,R007_S,MIR520B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR520B;MIR518F,dist=178;dist=948,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54291120,54291120,C,T,R007_S,MIR371B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR371B;MIR372;MIR373;MIR371A,dist=24;dist=125,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54314624,54314624,G,A,R007_S,NLRP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54406233,54406233,C,T,R007_S,PRKCG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54609201,54609201,G,A,R007_S,NDUFA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54650394,54650394,G,A,R007_S,CNOT3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CNOT3,NM_014516:exon10:c.894+1G>A,NA,NA,.,.,D,.,.,.
chr19,54697291,54697291,G,A,R007_S,TSEN34,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TSEN34,NM_024075:c.*74G>A;NM_001282332:c.*74G>A;NM_001077446:c.*74G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54724082,54724082,G,A,R007_S,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54758478,54758478,G,A,R007_S,LILRB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54848434,54848434,G,A,R007_S,LILRA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54866861,54866861,C,T,R007_S,LAIR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LAIR1,NM_021706:c.*16G>A;NM_002287:c.*16G>A;NM_001289025:c.*16G>A;NM_001289023:c.*16G>A;NM_001289026:c.*16G>A;NM_001289027:c.*16G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54947161,54947161,C,T,R007_S,TTYH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTYH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54963151,54963151,G,A,R007_S,LENG8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LENG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54967722,54967722,G,A,R007_S,LENG8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LENG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54971378,54971378,G,A,R007_S,LENG8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LENG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54974794,54974794,C,T,R007_S,LENG9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LENG9,NM_001301782:c.-85G>A;NM_198988:c.-19G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55085499,55085499,C,T,R007_S,LILRA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55146381,55146381,G,A,R007_S,LILRB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55150222,55150222,C,T,R007_S,LILRB1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LILRB1;MIR8061,dist=1241;dist=6538,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55452447,55452447,G,A,R007_S,NLRP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55458865,55458865,C,T,R007_S,NLRP7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NLRP7,NM_001127255:c.-5786G>A;NM_139176:c.-5786G>A;NM_206828:c.-5786G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55595088,55595088,C,T,R007_S,EPS8L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55607162,55607162,G,A,R007_S,PPP1R12C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R12C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55649315,55649315,G,A,R007_S,TNNT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55663178,55663178,G,A,R007_S,TNNI3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNNI3,NM_000363:c.*24C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55677133,55677133,C,T,R007_S,DNAAF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAAF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55687305,55687305,G,A,R007_S,SYT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55742904,55742904,G,A,R007_S,PPP6R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP6R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55832246,55832246,C,T,R007_S,TMEM150B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM150B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55913170,55913170,C,T,R007_S,RPL28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL28;UBE2S,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56228384,56228384,C,T,R007_S,NLRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56307650,56307650,C,T,R007_S,NLRP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56410344,56410344,G,A,R007_S,NLRP13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57059019,57059019,C,T,R007_S,ZFP28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57176627,57176627,G,A,R007_S,ZNF835,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF835,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57176651,57176651,C,T,R007_S,ZNF835,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF835,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57293507,57293507,G,A,R007_S,ZIM2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZIM2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57329019,57329019,C,T,R007_S,PEG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEG3;ZIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57330091,57330091,C,A,R007_S,PEG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEG3;ZIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57879898,57879898,C,T,R007_S,ZNF547,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF547,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57901385,57901385,G,A,R007_S,ZNF548,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF548,NM_152909:c.-83G>A;NM_001172773:c.-83G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57953395,57953395,C,T,R007_S,ZNF749,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF749,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58016656,58016656,G,A,R007_S,ZNF773,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF773,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58089855,58089855,C,T,R007_S,ZNF416,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF416,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58145450,58145450,C,T,R007_S,ZNF211,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF211,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58264620,58264620,G,A,R007_S,ZNF776,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF776,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58288110,58288110,C,T,R007_S,ZNF586,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF586,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58441776,58441776,G,A,R007_S,ZNF418,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF418,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58598576,58598576,C,T,R007_S,ZSCAN18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58772165,58772165,C,T,R007_S,ZNF544,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF544,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58981803,58981803,G,A,R007_S,ZNF324,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF324,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58991183,58991183,C,T,R007_S,ZNF446,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF446,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,59057264,59057264,G,A,R007_S,TRIM28,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TRIM28,NM_005762:exon3:c.586+1G>A,NA,NA,.,.,D,.,.,.
chr20,270348,270348,C,T,R007_S,C20orf96,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C20orf96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,411116,411116,C,T,R007_S,RBCK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RBCK1,NM_001323956:c.*42C>T;NM_031229:c.*42C>T;NM_006462:c.*42C>T;NM_001323958:c.*42C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,861808,861808,C,T,R007_S,ANGPT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1115618,1115618,G,A,R007_S,PSMF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1300205,1300205,C,T,R007_S,FKBP1A-SDCBP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FKBP1A-SDCBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1350663,1350663,C,T,R007_S,FKBP1A-SDCBP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FKBP1A-SDCBP2;SDCBP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1552362,1552362,C,T,R007_S,SIRPB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRPB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2321233,2321233,G,A,R007_S,TGM3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TGM3,NM_003245:c.*6G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2411309,2411309,G,A,R007_S,TGM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2474070,2474070,C,T,R007_S,ZNF343,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF343,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2592752,2592752,C,T,R007_S,TMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2644228,2644228,C,T,R007_S,IDH3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDH3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2797107,2797107,G,A,R007_S,TMEM239,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM239,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3652056,3652056,G,A,R007_S,ADAM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3655372,3655372,G,A,R007_S,ADAM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3662478,3662478,C,T,R007_S,ADAM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3672875,3672875,G,A,R007_S,SIGLEC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIGLEC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3721322,3721322,C,T,R007_S,HSPA12B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPA12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3735183,3735183,G,A,R007_S,C20orf27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C20orf27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3735946,3735946,G,A,R007_S,C20orf27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C20orf27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3767832,3767832,G,A,R007_S,CDC25B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC25B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,4864470,4864470,C,T,R007_S,SLC23A2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SLC23A2,NM_203327:exon9:c.643-1G>A;NM_005116:exon9:c.643-1G>A,NA,NA,.,.,D,.,.,.
chr20,6091179,6091179,G,A,R007_S,FERMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FERMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,9382093,9382093,G,A,R007_S,PLCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,9388741,9388741,C,T,R007_S,PLCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,16554004,16554004,C,T,R007_S,KIF16B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KIF16B,NM_001199865:c.-84G>A;NM_024704:c.-84G>A;NM_001199866:c.-84G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18118748,18118748,G,A,R007_S,PET117,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PET117,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18126101,18126101,G,A,R007_S,KAT14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,19998030,19998030,G,A,R007_S,NAA20,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NAA20,NM_181528:c.-11G>A;NM_016100:c.-11G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,24929992,24929992,G,A,R007_S,CST7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CST7,NM_003650:c.-150G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29633938,29633938,A,G,R007_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29633987,29633987,T,A,R007_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29956602,29956602,G,A,R007_S,DEFB118,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEFB118,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30053173,30053173,C,T,R007_S,DEFB124,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,DEFB124,dist=136,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30136787,30136787,G,A,R007_S,HM13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HM13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30193182,30193182,C,T,R007_S,ID1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ID1,NM_002165:c.-9C>T;NM_181353:c.-9C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30195181,30195181,G,A,R007_S,ID1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,ID1;MIR3193,dist=138,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30407293,30407293,G,A,R007_S,MYLK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYLK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30521553,30521553,G,A,R007_S,TTLL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30613655,30613655,C,T,R007_S,CCM2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCM2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30742764,30742764,G,A,R007_S,TM9SF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM9SF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30805017,30805017,C,T,R007_S,POFUT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,POFUT1,NM_172236:c.*164C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31292324,31292324,G,A,R007_S,COMMD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMMD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31292833,31292833,G,A,R007_S,COMMD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMMD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31315854,31315854,G,A,R007_S,COMMD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMMD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31368112,31368112,C,T,R007_S,DNMT3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNMT3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31484367,31484367,G,A,R007_S,EFCAB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31598720,31598720,C,T,R007_S,BPIFB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31628247,31628247,C,T,R007_S,BPIFB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31630488,31630488,C,T,R007_S,BPIFB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31695661,31695661,C,T,R007_S,BPIFB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31761004,31761004,G,A,R007_S,BPIFA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31825857,31825857,C,T,R007_S,BPIFA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31829796,31829796,C,T,R007_S,BPIFA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31885514,31885514,C,T,R007_S,BPIFB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32265150,32265150,G,A,R007_S,E2F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,E2F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32371711,32371711,C,T,R007_S,ZNF341,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF341,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32436533,32436533,G,A,R007_S,CHMP4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHMP4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32637194,32637194,G,A,R007_S,RALY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32664775,32664775,C,T,R007_S,RALY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32848170,32848170,G,A,R007_S,ASIP,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ASIP,dist=1,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33059385,33059385,G,A,R007_S,ITCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33095657,33095657,C,T,R007_S,ITCH,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ITCH,NM_001257138:c.*58C>T;NM_001257137:c.*58C>T;NM_001324198:c.*58C>T;NM_001324197:c.*58C>T;NM_031483:c.*58C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33147140,33147140,C,T,R007_S,MAP1LC3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP1LC3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33169272,33169272,C,T,R007_S,PIGU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33298197,33298197,C,T,R007_S,TP53INP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TP53INP2,NM_001329429:c.*86C>T;NM_001329430:c.*86C>T;NM_021202:c.*86C>T;NM_001329431:c.*86C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33447170,33447170,G,A,R007_S,GGT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GGT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33503087,33503087,C,T,R007_S,ACSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33592252,33592252,G,A,R007_S,TRPC4AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC4AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33600899,33600899,G,A,R007_S,TRPC4AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC4AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33680653,33680653,G,A,R007_S,TRPC4AP,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TRPC4AP,dist=35,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34136460,34136460,G,A,R007_S,ERGIC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERGIC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34142936,34142936,G,A,R007_S,ERGIC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERGIC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34220639,34220639,G,A,R007_S,CPNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34317491,34317491,G,A,R007_S,RBM39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34556513,34556513,G,A,R007_S,CNBD2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CNBD2,NM_001365709:c.-172G>A;NM_001304367:c.-172G>A;NM_001207076:c.-172G>A;NM_080834:c.-172G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34765866,34765866,C,T,R007_S,EPB41L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34783375,34783375,C,T,R007_S,EPB41L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35071226,35071226,G,A,R007_S,DLGAP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLGAP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35173493,35173493,G,A,R007_S,DLGAP4-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DLGAP4-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35436865,35436865,C,T,R007_S,SOGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36026019,36026019,G,A,R007_S,SRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36322515,36322515,G,A,R007_S,CTNNBL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CTNNBL1,NM_001281495:c.-38817G>A;NM_030877:c.-10G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36615748,36615748,G,A,R007_S,TTI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36770358,36770358,C,T,R007_S,TGM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36946193,36946193,G,A,R007_S,BPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36997807,36997807,G,A,R007_S,LBP,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LBP,NM_004139:exon10:c.1149+1G>A,NA,NA,.,.,D,.,.,.
chr20,37076842,37076842,C,T,R007_S,SNORA71E,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORA71E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37279166,37279166,G,A,R007_S,ARHGAP40,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARHGAP40,NM_001164431:c.*675G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37524368,37524368,C,T,R007_S,PPP1R16B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R16B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37546704,37546704,G,A,R007_S,PPP1R16B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R16B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37662825,37662825,G,A,R007_S,DHX35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,39658246,39658246,C,T,R007_S,TOP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,39658329,39658329,G,A,R007_S,TOP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,40192707,40192707,G,A,R007_S,CHD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,41408759,41408759,G,A,R007_S,PTPRT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42165116,42165116,G,A,R007_S,L3MBTL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,L3MBTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42310380,42310380,C,T,R007_S,MYBL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42679774,42679774,G,A,R007_S,TOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42695303,42695303,G,A,R007_S,TOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42743540,42743540,C,T,R007_S,JPH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JPH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43117843,43117843,G,A,R007_S,TTPAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTPAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43254402,43254402,G,A,R007_S,ADA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43926742,43926742,G,A,R007_S,MATN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MATN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43940726,43940726,G,A,R007_S,RBPJL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBPJL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43945091,43945091,C,T,R007_S,RBPJL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBPJL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43945700,43945700,C,T,R007_S,RBPJL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RBPJL,NM_001281448:c.*249C>T;NM_001281449:c.*101C>T;NM_014276:c.*101C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44048765,44048765,C,T,R007_S,PIGT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44166044,44166044,C,T,R007_S,EPPIN-WFDC6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EPPIN-WFDC6,NM_001198986:c.*128G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44313703,44313703,C,T,R007_S,WFDC10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WFDC10B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44471913,44471913,G,A,R007_S,SNX21,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNX21,NM_033421:c.*1961G>A;NM_001042632:c.*2617G>A;NM_001042633:c.*2617G>A;NM_152897:c.*1231G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44483997,44483997,G,A,R007_S,ACOT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44486027,44486027,C,T,R007_S,ACOT8,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ACOT8,NM_005469:c.-73G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44486361,44486361,G,A,R007_S,ZSWIM3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZSWIM3,NM_080752:c.-104G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44520709,44520709,G,A,R007_S,CTSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44521149,44521149,C,T,R007_S,CTSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44526502,44526502,G,A,R007_S,CTSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44589174,44589174,G,A,R007_S,ZNF335,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF335,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44589540,44589540,G,A,R007_S,ZNF335,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF335,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44592324,44592324,G,A,R007_S,ZNF335,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF335,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44664219,44664219,G,A,R007_S,SLC12A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44673604,44673604,G,A,R007_S,SLC12A5,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SLC12A5,NM_001134771:exon12:c.1464-1G>A;NM_020708:exon12:c.1395-1G>A,NA,NA,.,.,D,.,.,.
chr20,44979330,44979330,C,T,R007_S,SLC35C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44995987,44995987,C,T,R007_S,ELMO2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ELMO2,NM_182764:c.*12G>A;NM_133171:c.*12G>A;NM_001318253:c.*12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44996236,44996236,C,T,R007_S,ELMO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45228824,45228824,G,A,R007_S,SLC13A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45947529,45947529,C,T,R007_S,LOC100131496,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100131496,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,46277680,46277680,G,A,R007_S,NCOA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,46282187,46282187,G,A,R007_S,NCOA3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NCOA3,NM_181659:c.*26G>A;NM_006534:c.*26G>A;NM_001174088:c.*26G>A;NM_001174087:c.*26G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47276678,47276678,G,A,R007_S,PREX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47276696,47276696,G,A,R007_S,PREX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47307451,47307451,G,A,R007_S,PREX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47649785,47649785,C,T,R007_S,ARFGEF2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARFGEF2,NM_006420:c.*49C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47740874,47740874,G,A,R007_S,STAU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47836168,47836168,C,T,R007_S,DDX27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47951996,47951996,C,T,R007_S,ZFAS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZFAS1;KCNB1,dist=46201;dist=28418,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48471875,48471875,G,A,R007_S,SLC9A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48491189,48491189,C,T,R007_S,SLC9A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48729573,48729573,C,T,R007_S,TMEM189-UBE2V1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM189-UBE2V1;UBE2V1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48767762,48767762,G,A,R007_S,TMEM189,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM189;TMEM189-UBE2V1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,49197787,49197787,C,T,R007_S,PTPN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,49206332,49206332,T,C,R007_S,RIPOR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIPOR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,49227484,49227484,G,A,R007_S,RIPOR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIPOR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50243971,50243971,G,A,R007_S,ATP9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50245518,50245518,C,T,R007_S,ATP9A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ATP9A,NM_006045:exon16:c.1761+1G>A,NA,NA,.,.,D,.,.,.
chr20,50312619,50312619,C,T,R007_S,ATP9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50701073,50701073,G,A,R007_S,ZFP64,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZFP64,NM_199427:c.*23C>T;NM_001319146:c.*23C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50721784,50721784,G,A,R007_S,ZFP64,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZFP64,NM_001319146:c.-8C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50770406,50770406,C,T,R007_S,ZFP64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52561412,52561412,G,A,R007_S,BCAS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BCAS1,NM_001366298:c.*49C>T;NM_001366296:c.*49C>T;NM_001366297:c.*49C>T;NM_003657:c.*49C>T;NM_001323347:c.*49C>T;NM_001366295:c.*49C>T;NM_001316361:c.*49C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52609050,52609050,C,T,R007_S,BCAS1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,BCAS1,NM_001366298:exon7:c.1062+1G>A,NA,NA,.,.,D,.,.,.
chr20,55746208,55746208,G,A,R007_S,BMP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56285515,56285515,C,T,R007_S,NKILA,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,NKILA;PMEPA1,NM_199169:exon1:c.4+1G>A,NA,NA,.,.,N,.,.,.
chr20,56810268,56810268,G,A,R007_S,PPP4R1L,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PPP4R1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56814331,56814331,A,G,R007_S,PPP4R1L,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PPP4R1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56820965,56820965,C,T,R007_S,PPP4R1L,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PPP4R1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56826085,56826085,G,A,R007_S,PPP4R1L,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PPP4R1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57245524,57245524,G,A,R007_S,STX16-NPEPL1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,STX16-NPEPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57245561,57245561,G,A,R007_S,STX16-NPEPL1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,STX16-NPEPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57569686,57569686,C,T,R007_S,NELFCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NELFCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57582224,57582224,C,T,R007_S,CTSZ,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CTSZ,NM_001336:c.-41G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,58330158,58330158,C,T,R007_S,PHACTR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHACTR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60705832,60705832,G,A,R007_S,LSM14B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSM14B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60706617,60706617,G,A,R007_S,LSM14B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSM14B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60861597,60861597,G,A,R007_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60881876,60881876,C,T,R007_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60885435,60885435,C,T,R007_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60893744,60893744,C,T,R007_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60895774,60895774,G,A,R007_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60897057,60897057,G,A,R007_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60900656,60900656,G,A,R007_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60913721,60913721,C,T,R007_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61274430,61274430,G,A,R007_S,SLCO4A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61457282,61457282,C,T,R007_S,COL9A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61591819,61591819,G,A,R007_S,SLC17A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61827974,61827974,G,A,R007_S,YTHDF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,YTHDF1,NM_017798:c.*86C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61872931,61872931,C,T,R007_S,NKAIN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NKAIN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61912565,61912565,C,T,R007_S,ARFGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61956847,61956847,G,A,R007_S,COL20A1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,COL20A1,NM_020882:exon28:c.3348+1G>A,NA,NA,.,.,D,.,.,.
chr20,61986977,61986977,G,A,R007_S,CHRNA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRNA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61992428,61992428,G,A,R007_S,LOC100130587,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100130587,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62062912,62062912,G,A,R007_S,KCNQ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62152770,62152770,G,A,R007_S,PPDPF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPDPF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62173691,62173691,G,A,R007_S,SRMS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRMS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62191523,62191523,C,T,R007_S,HELZ2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,HELZ2,NM_033405:exon12:c.5950+1G>A;NM_001037335:exon18:c.7657+1G>A,NA,NA,.,.,D,.,.,.
chr20,62193115,62193115,G,A,R007_S,HELZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HELZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62227170,62227170,G,A,R007_S,GMEB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GMEB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62229228,62229228,G,A,R007_S,GMEB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GMEB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62319491,62319491,G,A,R007_S,RTEL1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RTEL1,NM_032957:exon19:c.1668-1G>A;NM_001283009:exon19:c.1596-1G>A;NM_001283010:exon18:c.927-1G>A;NM_016434:exon19:c.1596-1G>A,NA,NA,.,.,D,.,.,.
chr20,62325668,62325668,C,T,R007_S,RTEL1-TNFRSF6B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RTEL1-TNFRSF6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62474924,62474924,C,T,R007_S,ZBTB46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZBTB46;ABHD16B,dist=12307;dist=17642,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62474980,62474980,C,T,R007_S,ZBTB46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZBTB46;ABHD16B,dist=12363;dist=17586,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62571906,62571906,C,T,R007_S,UCKL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCKL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62679436,62679436,G,A,R007_S,SOX18,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SOX18,NM_018419:c.*83C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62858879,62858879,G,A,R007_S,MYT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62871640,62871640,G,A,R007_S,MYT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62905039,62905039,G,A,R007_S,PCMTD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PCMTD2,NM_001104925:c.*86G>A;NM_018257:c.*86G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10862668,10862668,G,A,R007_S,TEKT4P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TEKT4P2;TPTE,dist=894074;dist=43519,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10996009,10996009,C,T,R007_S,TPTE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TPTE;BAGE5,dist=5066;dist=24833,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11039302,11039302,A,G,R007_S,BAGE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BAGE2;BAGE3;BAGE4;BAGE5,NM_182482:c.*364T>C;NM_182481:c.*364T>C;NM_181704:c.*579T>C;NM_182484:c.*579T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11039406,11039406,T,C,R007_S,BAGE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BAGE2;BAGE3;BAGE4;BAGE5,NM_182482:c.*260A>G;NM_182481:c.*260A>G;NM_181704:c.*475A>G;NM_182484:c.*475A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11058330,11058330,G,A,R007_S,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11058386,11058386,G,A,R007_S,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11059821,11059821,T,C,R007_S,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11059861,11059861,T,G,R007_S,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,19685418,19685418,G,A,R007_S,TMPRSS15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,19752865,19752865,G,T,R007_S,TMPRSS15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS15,NA,NA,NA,D,.,D,T,N,T
chr21,28337593,28337593,C,T,R007_S,ADAMTS5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,31747776,31747776,C,T,R007_S,MIR4327,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4327,dist=80,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33064373,33064373,C,T,R007_S,SCAF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34617218,34617218,G,A,R007_S,IFNAR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFNAR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34851147,34851147,C,T,R007_S,TMEM50B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM50B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34941843,34941843,C,T,R007_S,SON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34948077,34948077,C,T,R007_S,SON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,35134192,35134192,C,T,R007_S,ITSN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITSN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37661110,37661110,G,A,R007_S,DOP1B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DOP1B,NM_001320714:exon34:c.6353+1G>A;NM_005128:exon34:c.6353+1G>A,NA,NA,.,.,D,.,.,.
chr21,38604862,38604862,G,A,R007_S,VPS26C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS26C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,39325236,39325236,C,T,R007_S,KCNJ6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,KCNJ6;DSCR4,dist=36476;dist=101077,NA,NA,.,.,A,.,.,.
chr21,41300908,41300908,G,A,R007_S,PCP4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PCP4,NM_006198:exon3:c.62-1G>A,NA,NA,.,.,D,.,.,.
chr21,43282126,43282126,G,A,R007_S,PRDM15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43309194,43309194,G,A,R007_S,C2CD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C2CD2,NM_015500:c.*39C>T;NM_199050:c.*39C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43809032,43809032,C,T,R007_S,TMPRSS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43836466,43836466,C,T,R007_S,UBASH3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBASH3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43896003,43896003,C,T,R007_S,RSPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43967133,43967133,C,T,R007_S,SLC37A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC37A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44179264,44179264,G,A,R007_S,PDE9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44180423,44180423,C,T,R007_S,PDE9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44274778,44274778,G,A,R007_S,WDR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44296772,44296772,C,T,R007_S,WDR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44589403,44589403,G,A,R007_S,CRYAA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYAA;CRYAA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44841381,44841381,C,T,R007_S,SIK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIK1;SIK1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45152429,45152429,G,A,R007_S,PDXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45223679,45223679,G,A,R007_S,RRP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RRP1,NM_003683:c.*24G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45523440,45523440,C,T,R007_S,TRAPPC10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRAPPC10,NM_003274:c.*28C>T;NM_001351709:c.*28C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45534471,45534471,C,T,R007_S,LOC102724159,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC102724159;PWP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45742113,45742113,G,A,R007_S,PFKL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46197351,46197351,G,A,R007_S,UBE2G2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2G2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46311630,46311630,G,A,R007_S,ITGB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46354238,46354238,C,T,R007_S,LINC01547,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01547,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46645620,46645620,C,T,R007_S,ADARB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADARB1,NM_001112:c.*3508C>T;NM_015834:c.*150C>T;NM_015833:c.*3508C>T;NM_001160230:c.*150C>T;NM_001346688:c.*150C>T;NM_001346687:c.*196C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46707617,46707617,C,T,R007_S,POFUT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POFUT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46931021,46931021,C,T,R007_S,COL18A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47349942,47349942,C,T,R007_S,PCBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47422371,47422371,G,A,R007_S,COL6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47422930,47422930,G,A,R007_S,COL6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47655403,47655403,G,A,R007_S,MCM3AP-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MCM3AP-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17445811,17445811,G,A,R007_S,GAB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17585755,17585755,C,T,R007_S,IL17RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL17RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18628447,18628447,C,T,R007_S,TUBA8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TUBA8;USP18,dist=13948;dist=4490,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18898611,18898611,C,T,R007_S,DGCR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGCR6;LOC102724770,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19263424,19263424,G,A,R007_S,CLTCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19420054,19420054,C,T,R007_S,MRPL40,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MRPL40,NM_003776:c.-24C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19455620,19455620,G,A,R007_S,UFD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UFD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19456296,19456296,G,A,R007_S,UFD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UFD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19467147,19467147,C,T,R007_S,CDC45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19495993,19495993,C,T,R007_S,CDC45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19754467,19754467,G,A,R007_S,TBX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TBX1,NM_080647:c.*77G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19965706,19965706,C,T,R007_S,ARVCF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARVCF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20044417,20044417,C,T,R007_S,TANGO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TANGO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20136705,20136705,C,T,R007_S,CCDC188,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20137097,20137097,G,A,R007_S,CCDC188,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20735046,20735046,G,A,R007_S,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=28262;dist=13359,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20937053,20937053,G,A,R007_S,MED15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20937061,20937061,C,T,R007_S,MED15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21224865,21224865,G,A,R007_S,SNAP29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNAP29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21237625,21237625,C,T,R007_S,SNAP29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNAP29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21332359,21332359,C,T,R007_S,AIFM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AIFM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21380283,21380283,G,A,R007_S,P2RX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P2RX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21401588,21401588,G,A,R007_S,LRRC74B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC74B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22385403,22385403,C,T,R007_S,PRAMENP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PRAMENP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22677274,22677274,G,A,R007_S,BMS1P20,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,BMS1P20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22764582,22764582,C,T,R007_S,BMS1P20,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,BMS1P20;ZNF280B,dist=87258;dist=74189,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23047225,23047225,C,T,R007_S,GGTLC2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGTLC2;MIR650,dist=56857;dist=118045,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23154565,23154565,C,T,R007_S,GGTLC2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGTLC2;MIR650,dist=164197;dist=10705,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23260366,23260366,C,T,R007_S,IGLL5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IGLL5;RSPH14,dist=22075;dist=141227,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23401427,23401427,G,A,R007_S,RSPH14,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,RSPH14,dist=166,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23595900,23595900,G,A,R007_S,BCR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24226273,24226273,G,A,R007_S,SLC2A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24480881,24480881,C,T,R007_S,CABIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CABIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24620841,24620841,C,T,R007_S,GGT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GGT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24621080,24621080,G,A,R007_S,GGT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GGT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24829776,24829776,G,A,R007_S,ADORA2A-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ADORA2A-AS1;SPECC1L-ADORA2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24921826,24921826,G,A,R007_S,UPB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UPB1,NM_016327:c.*64G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25229306,25229306,G,A,R007_S,SGSM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25275381,25275381,G,A,R007_S,SGSM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25715972,25715972,G,A,R007_S,IGLL3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,IGLL3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25747629,25747629,C,T,R007_S,LRP5L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRP5L,NM_001135772:c.*137G>A;NM_182492:c.*137G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26057735,26057735,G,A,R007_S,GRK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26091211,26091211,T,C,R007_S,GRK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26388248,26388248,G,A,R007_S,MYO18B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO18B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26423686,26423686,G,A,R007_S,MYO18B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO18B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26890306,26890306,C,T,R007_S,SRRD,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SRRD,NM_001013694:c.*2668C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26899621,26899621,C,T,R007_S,TFIP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFIP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26936701,26936701,C,T,R007_S,TPST2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPST2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,27008977,27008977,C,T,R007_S,CRYBB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYBB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,28293760,28293760,G,A,R007_S,PITPNB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,28492152,28492152,C,T,R007_S,TTC28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29414023,29414023,G,A,R007_S,ZNRF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNRF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29610851,29610851,C,T,R007_S,EMID1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMID1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29669854,29669854,G,A,R007_S,EWSR1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,EWSR1,NM_013986:exon4:c.226+1G>A;NM_001163285:exon4:c.226+1G>A;NM_001163286:exon4:c.226+1G>A;NM_005243:exon4:c.226+1G>A;NM_001163287:exon4:c.226+1G>A,NA,NA,.,.,D,.,.,.
chr22,29669891,29669891,G,A,R007_S,EWSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EWSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29725621,29725621,G,A,R007_S,AP1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29729264,29729264,C,T,R007_S,AP1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30603169,30603169,G,A,R007_S,HORMAD2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HORMAD2;LIF-AS1,dist=30105;dist=32014,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30864487,30864487,G,A,R007_S,SEC14L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC14L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30887527,30887527,G,A,R007_S,SEC14L4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC14L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30920969,30920969,G,A,R007_S,SEC14L6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEC14L6,NM_001193336:c.*15C>T;NM_001353441:c.*15C>T;NM_001353443:c.*85C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31478845,31478845,C,T,R007_S,SMTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31501395,31501395,G,A,R007_S,SELENOM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SELENOM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31522846,31522846,G,A,R007_S,INPP5J,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5J,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31529863,31529863,G,A,R007_S,INPP5J,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5J,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31685287,31685287,G,A,R007_S,PIK3IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3IP1,NA,NA,NA,T,.,N,T,N,T
chr22,31969003,31969003,C,T,R007_S,SFI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32012864,32012864,G,A,R007_S,SFI1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SFI1,NM_001258325:exon28:c.3268+1G>A;NM_014775:exon29:c.3340+1G>A;NM_001258327:exon28:c.3151+1G>A;NM_001258326:exon28:c.3187+1G>A;NM_001007467:exon30:c.3433+1G>A,NA,NA,.,.,D,.,.,.
chr22,32218801,32218801,G,A,R007_S,DEPDC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEPDC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32266490,32266490,G,A,R007_S,DEPDC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEPDC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32446088,32446088,G,A,R007_S,SLC5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32463932,32463932,C,T,R007_S,SLC5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32480342,32480342,C,T,R007_S,SLC5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32829803,32829803,G,A,R007_S,BPIFC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,34426244,34426244,G,A,R007_S,LARGE1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LARGE1;ISX-AS1,dist=107368;dist=726412,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35478490,35478490,C,T,R007_S,ISX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ISX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35806713,35806713,C,T,R007_S,MCM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36013341,36013341,G,A,R007_S,MB,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MB,NM_005368:c.-37C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36218770,36218770,G,A,R007_S,RBFOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36682065,36682065,C,T,R007_S,MYH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36702185,36702185,G,A,R007_S,MYH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37470636,37470636,G,A,R007_S,TMPRSS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37494642,37494642,C,T,R007_S,TMPRSS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37524064,37524064,G,A,R007_S,IL2RB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IL2RB,NM_001346222:c.*72C>T;NM_001346223:c.*72C>T;NM_000878:c.*72C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38040998,38040998,C,T,R007_S,LOC101927051,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927051,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38074342,38074342,G,A,R007_S,LGALS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38147714,38147714,C,T,R007_S,TRIOBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIOBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38167926,38167926,G,A,R007_S,TRIOBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIOBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38246182,38246182,G,A,R007_S,EIF3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38385943,38385943,C,T,R007_S,POLR2F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38385947,38385947,G,A,R007_S,POLR2F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38465023,38465023,C,T,R007_S,PICK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PICK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38531109,38531109,C,T,R007_S,PLA2G6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39041742,39041742,C,T,R007_S,FAM227A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM227A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39123893,39123893,G,A,R007_S,GTPBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39145700,39145700,G,A,R007_S,SUN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39267344,39267344,C,T,R007_S,CBX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39358234,39358234,C,T,R007_S,APOBEC3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC3A;APOBEC3A_B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39382480,39382480,C,T,R007_S,APOBEC3A_B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC3A_B;APOBEC3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39770305,39770305,G,A,R007_S,SYNGR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNGR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39773146,39773146,C,T,R007_S,SYNGR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNGR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39969761,39969761,C,T,R007_S,CACNA1I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39969802,39969802,G,A,R007_S,CACNA1I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40647274,40647274,C,T,R007_S,TNRC6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNRC6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40827273,40827273,C,T,R007_S,MRTFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRTFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41564648,41564648,G,A,R007_S,EP300,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EP300,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41623491,41623491,C,T,R007_S,L3MBTL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,L3MBTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41664169,41664169,G,A,R007_S,RANGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41734907,41734907,G,A,R007_S,ZC3H7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41752261,41752261,C,T,R007_S,ZC3H7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41864691,41864691,G,A,R007_S,PHF5A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PHF5A,NM_032758:c.-34C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41912055,41912055,G,A,R007_S,ACO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41925251,41925251,C,T,R007_S,POLR3H,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,POLR3H,NM_001018052:c.*36G>A;NM_001282885:c.*36G>A;NM_138338:c.*36G>A;NM_001282884:c.*36G>A;NM_001018050:c.*36G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41985021,41985021,C,T,R007_S,PMM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PMM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42177259,42177259,G,A,R007_S,MEI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42321370,42321370,G,A,R007_S,TNFRSF13C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNFRSF13C,NM_052945:c.*1C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42341912,42341912,C,T,R007_S,CENPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42385525,42385525,G,A,R007_S,SEPTIN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPTIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43227672,43227672,G,A,R007_S,ARFGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43253275,43253275,G,A,R007_S,ARFGAP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ARFGAP3,NM_014570:c.-87C>T;NM_001142293:c.-87C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43529005,43529005,C,T,R007_S,MCAT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MCAT,NM_014507:c.*456G>A;NM_173467:c.*44G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44282134,44282134,C,T,R007_S,PNPLA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44582401,44582401,C,T,R007_S,PARVG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARVG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45198057,45198057,C,T,R007_S,ARHGAP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP8;PRR5-ARHGAP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45309673,45309673,C,T,R007_S,PHF21B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF21B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46345790,46345790,G,A,R007_S,WNT7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNT7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46628163,46628163,A,G,R007_S,PPARA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPARA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46674482,46674482,G,T,R007_S,TTC38,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TTC38,NM_017931:exon6:c.540-1G>T,NA,NA,.,.,D,.,.,.
chr22,46806285,46806285,C,T,R007_S,CELSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,47095152,47095152,C,T,R007_S,CERK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,49667943,49667943,C,T,R007_S,LINC01310,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01310;NONE,dist=373745;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50017146,50017146,C,T,R007_S,C22orf34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C22orf34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50280905,50280905,G,A,R007_S,ZBED4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBED4,NM_014838:c.*79G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50297007,50297007,G,A,R007_S,ALG12,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ALG12,NM_024105:c.*479C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50488692,50488692,G,A,R007_S,TTLL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50492988,50492988,G,A,R007_S,TTLL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50528890,50528890,C,T,R007_S,MOV10L1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MOV10L1,NM_001164105:c.-15C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50688228,50688228,C,T,R007_S,HDAC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50703704,50703704,G,A,R007_S,MAPK11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50719451,50719451,C,T,R007_S,PLXNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50943203,50943203,C,T,R007_S,LMF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,51007897,51007897,C,T,R007_S,CHKB-CPT1B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CHKB-CPT1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,51014892,51014892,G,A,R007_S,CHKB-CPT1B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CHKB-CPT1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,51143322,51143322,G,A,R007_S,SHANK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHANK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,2853257,2853257,G,A,R007_S,ARSE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARSE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,9000961,9000961,G,A,R007_S,FAM9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,10534916,10534916,G,A,R007_S,MID1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MID1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,13801869,13801869,G,A,R007_S,GPM6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPM6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,14748315,14748315,C,T,R007_S,GLRA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLRA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15315626,15315626,G,A,R007_S,ASB11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15376110,15376110,C,T,R007_S,PIR-FIGF,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PIR-FIGF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16170812,16170812,G,A,R007_S,GRPR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GRPR,NM_005314:c.*44G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,20060779,20060779,G,A,R007_S,MAP7D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP7D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,23945506,23945506,G,A,R007_S,CXorf58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXorf58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,30692379,30692379,C,T,R007_S,GK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41530674,41530674,G,A,R007_S,CASK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41554849,41554849,C,T,R007_S,GPR34,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GPR34,NM_001097579:c.-38C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47103829,47103829,G,A,R007_S,USP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47445270,47445270,C,T,R007_S,SYN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYN1;TIMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47657993,47657993,G,A,R007_S,CXXC1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CXXC1P1;ZNF81,dist=61966;dist=38308,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47695924,47695924,G,A,R007_S,ZNF81,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ZNF81,dist=377,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48370924,48370924,G,A,R007_S,PORCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PORCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48434228,48434228,G,A,R007_S,RBM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48755152,48755152,G,A,R007_S,TIMM17B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMM17B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48797494,48797494,G,A,R007_S,OTUD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTUD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48933504,48933504,C,T,R007_S,WDR45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49021479,49021479,G,A,R007_S,MAGIX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGIX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49030911,49030911,C,T,R007_S,PLP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49105423,49105423,C,A,R007_S,CCDC22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53223267,53223267,G,A,R007_S,KDM5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70073060,70073060,C,T,R007_S,TEX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70147910,70147910,C,T,R007_S,SLC7A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70360482,70360482,G,A,R007_S,MED12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70463025,70463025,G,A,R007_S,ZMYM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73043172,73043172,G,A,R007_S,TSIX,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TSIX;XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73094931,73094931,G,A,R007_S,XIST,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,XIST;JPX,dist=22343;dist=69228,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100169221,100169221,G,A,R007_S,XKRX,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,XKRX,NM_212559:c.*106C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100497060,100497060,G,A,R007_S,DRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,102320398,102320398,G,A,R007_S,BEX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,BEX1;NXF3,dist=1299;dist=10340,NA,NA,NA,NA,NA,NA,NA,NA
chrX,105066906,105066906,G,A,R007_S,NRK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106769783,106769783,G,A,R007_S,FRMPD3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRMPD3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107370062,107370062,G,A,R007_S,ATG4A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATG4A,NM_001321290:c.-10308G>A;NM_001321289:c.-4466G>A;NM_001321287:c.-4466G>A;NM_178271:c.-4466G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,108641963,108641963,G,A,R007_S,GUCY2F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY2F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,109419442,109419442,G,A,R007_S,TMEM164,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM164,NM_001353851:c.*2763G>A;NM_017698:c.*2763G>A;NM_032227:c.*2763G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110389644,110389644,G,A,R007_S,PAK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118759387,118759387,G,T,R007_S,SEPTIN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPTIN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,119410696,119410696,C,T,R007_S,TMEM255A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM255A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,122616908,122616908,G,A,R007_S,GRIA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129263453,129263453,C,T,R007_S,AIFM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AIFM1,NM_004208:c.*79G>A;NM_145812:c.*79G>A;NM_001130846:c.*79G>A;NM_001130847:c.*1149G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129843143,129843143,G,A,R007_S,ENOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133941473,133941473,G,A,R007_S,FAM122C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM122C,NM_001365748:c.-156G>A;NM_001365745:c.-156G>A;NM_001170781:c.-156G>A;NM_001170779:c.-156G>A;NM_001170783:c.-156G>A;NM_138819:c.-156G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,135475804,135475804,G,A,R007_S,ADGRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,136651251,136651251,C,T,R007_S,ZIC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZIC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,136652262,136652262,G,A,R007_S,ZIC3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZIC3,NM_003413:c.*33G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,142122054,142122054,C,T,R007_S,SPANXN4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SPANXN4,NM_001009613:c.*22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,142761014,142761014,G,A,R007_S,SLITRK4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLITRK4;SPANXN2,dist=37094;dist=34121,NA,NA,NA,NA,NA,NA,NA,NA
chrX,149671489,149671489,G,A,R007_S,MAMLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAMLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,149895665,149895665,T,C,R007_S,MTMR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,151081182,151081182,C,T,R007_S,MAGEA4,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MAGEA4,dist=179,NA,NA,NA,NA,NA,NA,NA,NA
chrX,151123779,151123779,C,T,R007_S,GABRE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152721678,152721678,G,A,R007_S,HAUS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAUS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152811588,152811588,G,A,R007_S,ATP2B3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ATP2B3,NM_021949:exon6:c.958+1G>A;NM_001001344:exon6:c.958+1G>A,NA,NA,.,.,D,.,.,.
chrX,152915770,152915770,G,A,R007_S,DUSP9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DUSP9,NM_001395:c.*10G>A;NM_001318503:c.*10G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153135721,153135721,G,A,R007_S,L1CAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,L1CAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153586772,153586772,G,A,R007_S,FLNA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLNA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153663574,153663574,G,A,R007_S,ATP6AP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6AP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153668149,153668149,G,A,R007_S,GDI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153991203,153991203,G,A,R007_S,DKC1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DKC1,NM_001288747:c.-38G>A;NM_001363:c.-38G>A;NM_001142463:c.-38G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153996797,153996797,G,A,R007_S,DKC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DKC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,6954049,6954049,C,T,R007_S,TBL1Y,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBL1Y,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110201763,110201763,G,A,R008_F,GSTM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTM4,NA,NA,NA,T,.,N,T,N,T
chr1,145109430,145109430,A,T,R008_F,SEC22B2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SEC22B2P;SEC22B3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,146496558,146496558,G,A,R008_F,LOC728989,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC728989,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155290965,155290965,C,T,R008_F,RUSC1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RUSC1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157490170,157490170,G,A,R008_F,FCRL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,197093196,197093196,T,G,R008_F,ASPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,218683435,218683435,C,A,R008_F,MIR548F3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR548F3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135922300,135922300,C,A,R008_F,RAB3GAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3GAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179549823,179549823,G,A,R008_F,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,134960175,134960175,C,A,R008_F,EPHB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,28372400,28372400,G,T,R008_F,LINC02261,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02261;MIR4275,dist=1088553;dist=448804,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79334063,79334063,G,A,R008_F,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,95503757,95503757,T,G,R008_F,PDLIM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDLIM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100232569,100232569,A,G,R008_F,ADH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,40936419,40936419,G,A,R008_F,C7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150050281,150050281,C,A,R008_F,MYOZ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOZ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176314770,176314770,C,T,R008_F,HK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,34385426,34385426,A,T,R008_F,RPS10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS10;RPS10-NUDT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35755610,35755610,G,A,R008_F,CLPSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLPSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75621595,75621595,A,T,R008_F,TMEM120A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM120A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137230704,137230704,G,A,R008_F,DGKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKI,NA,NA,NA,T,.,D,.,N,T
chr9,37495784,37495784,C,T,R008_F,POLR1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100417095,100417095,A,G,R008_F,NCBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76908662,76908662,T,C,R008_F,MYO7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118502852,118502852,G,A,R008_F,PHLDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,4627477,4627477,A,G,R008_F,C12orf4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,39756880,39756880,G,C,R008_F,KIF21A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24470940,24470940,C,T,R008_F,C1QTNF9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QTNF9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,42460009,42460009,A,G,R008_F,VWA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,24920910,24920910,G,A,R008_F,NPAP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NPAP1,NM_018958:c.-105G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42371704,42371704,C,T,R008_F,PLA2G4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,77322930,77322930,G,T,R008_F,PSTPIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSTPIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4851893,4851893,A,G,R008_F,ROGDI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROGDI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10032447,10032447,G,A,R008_F,GRIN2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIN2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75674374,75674374,C,A,R008_F,KARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84651074,84651074,C,T,R008_F,COTL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1551264,1551264,G,T,R008_F,RILP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RILP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,21199222,21199222,G,A,R008_F,MAP2K3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30469355,30469355,G,A,R008_F,LOC105371730,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC105371730,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39075573,39075573,C,A,R008_F,RYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,39730103,39730103,C,A,R008_F,PLCG1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PLCG1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44107992,44107992,A,G,R008_F,PDE9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17646412,17646412,G,A,R008_F,HDHD5,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,HDHD5;HDHD5-AS1,dist=235;dist=77,NA,NA,NA,NA,NA,NA,NA,NA
chrX,64951063,64951063,C,A,R008_F,MSN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73064523,73064523,C,A,R008_F,XIST,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,135301695,135301695,T,C,R008_F,MAP7D3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP7D3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153668671,153668671,C,A,R008_F,GDI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110201763,110201763,G,A,R008_S,GSTM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTM4,NA,NA,NA,T,.,N,T,N,T
chr1,146496558,146496558,G,A,R008_S,LOC728989,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC728989,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155290965,155290965,C,T,R008_S,RUSC1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RUSC1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156390222,156390222,C,T,R008_S,C1orf61,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf61,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157490170,157490170,G,A,R008_S,FCRL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,164789484,164789484,T,A,R008_S,PBX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PBX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168344716,168344716,A,G,R008_S,MIR557,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR557,dist=46,NA,NA,NA,NA,NA,NA,NA,NA
chr1,197093196,197093196,T,G,R008_S,ASPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91777902,91777902,C,T,R008_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;LOC107985911,dist=NONE;dist=27281,NA,NA,NA,NA,NA,NA,NA,NA
chr2,178740508,178740508,T,C,R008_S,PDE11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179549823,179549823,G,A,R008_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219136349,219136349,G,C,R008_S,PNKD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNKD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,134960175,134960175,C,A,R008_S,EPHB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164059123,164059123,G,A,R008_S,MIR1263,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR1263;LINC01324,dist=169779;dist=372760,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195597150,195597150,T,C,R008_S,TNK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,28372400,28372400,G,T,R008_S,LINC02261,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02261;MIR4275,dist=1088553;dist=448804,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79334063,79334063,G,A,R008_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,95503757,95503757,T,G,R008_S,PDLIM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDLIM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100232569,100232569,A,G,R008_S,ADH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,183090280,183090280,T,A,R008_S,MIR1305,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR1305,dist=166,NA,NA,NA,NA,NA,NA,NA,NA
chr5,40936419,40936419,G,A,R008_S,C7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,109849560,109849560,T,C,R008_S,MIR548F3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR548F3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,109849561,109849561,T,C,R008_S,MIR548F3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR548F3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139889894,139889894,C,T,R008_S,ANKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKHD1;ANKHD1-EIF4EBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149112300,149112300,T,G,R008_S,PPARGC1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPARGC1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149112342,149112342,A,G,R008_S,PPARGC1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPARGC1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149112500,149112500,A,G,R008_S,PPARGC1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPARGC1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176314770,176314770,C,T,R008_S,HK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179442328,179442328,T,C,R008_S,MIR340,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR340,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35755610,35755610,G,A,R008_S,CLPSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLPSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,52013668,52013668,A,G,R008_S,LINCMD1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINCMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,25989520,25989520,T,G,R008_S,MIR148A,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR148A,dist=19,NA,NA,NA,NA,NA,NA,NA,NA
chr7,57069804,57069804,T,C,R008_S,MIR4283-1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4283-1;ZNF479,dist=46233;dist=117522,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75621595,75621595,A,T,R008_S,TMEM120A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM120A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,126698351,126698351,A,C,R008_S,GRM8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129414701,129414701,T,C,R008_S,MIR96,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR96;MIR183,dist=92;dist=44,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129414786,129414786,T,C,R008_S,MIR183,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR183,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137230704,137230704,G,A,R008_S,DGKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKI,NA,NA,NA,T,.,D,.,N,T
chr7,157366972,157366972,C,T,R008_S,PTPRN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41552444,41552444,G,A,R008_S,ANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,135812763,135812763,T,C,R008_S,MIR30B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR30B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100417095,100417095,A,G,R008_S,NCBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140732765,140732765,G,A,R008_S,MIR602,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR602,dist=106,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105154089,105154089,A,G,R008_S,MIR1307,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR1307,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,122022927,122022927,C,T,R008_S,MIR100HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR100HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54385588,54385588,A,G,R008_S,MIR196A2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR196A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54385591,54385591,A,G,R008_S,MIR196A2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR196A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62728894,62728894,G,A,R008_S,USP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69667142,69667142,C,T,R008_S,CPSF6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CPSF6,NM_001300947:c.*3854C>T;NM_007007:c.*3854C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81226296,81226296,A,T,R008_S,LIN7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24470940,24470940,C,T,R008_S,C1QTNF9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QTNF9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,41384847,41384847,A,G,R008_S,TPTE2P5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TPTE2P5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101506460,101506460,A,G,R008_S,MIR376A2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR376A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101521188,101521188,G,A,R008_S,MIR485,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR485;MIR668;MIR134;MIR382,dist=407;dist=92,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101522529,101522529,A,G,R008_S,MIR323B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR323B;MIR485;MIR668,dist=27;dist=701,NA,NA,NA,NA,NA,NA,NA,NA
chr15,24920910,24920910,G,A,R008_S,NPAP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NPAP1,NM_018958:c.-105G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25287356,25287356,C,T,R008_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40290825,40290825,T,C,R008_S,EIF2AK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2AK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,76017577,76017577,A,T,R008_S,ODF3L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ODF3L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,77322930,77322930,G,T,R008_S,PSTPIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSTPIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,93339085,93339085,T,C,R008_S,ASB9P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ASB9P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4851893,4851893,A,G,R008_S,ROGDI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROGDI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16185278,16185278,C,A,R008_S,PIGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,21199222,21199222,G,A,R008_S,MAP2K3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27188452,27188452,T,C,R008_S,MIR451A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR451A;MIR451B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27188579,27188579,T,C,R008_S,MIR144,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR144,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30469355,30469355,G,A,R008_S,LOC105371730,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC105371730,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57918720,57918720,C,T,R008_S,VMP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,VMP1,NM_001329397:c.*1448C>T;NM_030938:c.*1448C>T;NM_001329402:c.*1448C>T;NM_001329396:c.*1448C>T;NM_001329395:c.*1448C>T;NM_001329398:c.*1448C>T;NM_001329394:c.*1448C>T;NM_001329399:c.*1448C>T;NM_001329400:c.*1448C>T;NM_001329401:c.*1448C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,15006262,15006262,C,G,R008_S,LINC01443,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01443;LOC644669,dist=32507;dist=307293,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19405627,19405627,C,T,R008_S,MIR133A1HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR133A1HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19405660,19405660,C,T,R008_S,MIR133A1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR133A1;MIR133A1HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61449790,61449790,T,A,R008_S,SERPINB7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19545990,19545990,T,C,R008_S,GATAD2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GATAD2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43877412,43877412,C,T,R008_S,CD177,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CD177;TEX101,dist=10088;dist=15351,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54179019,54179019,A,G,R008_S,MIR520E,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR520E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54219801,54219801,G,A,R008_S,MIR521-2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR521-2,dist=47,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17911436,17911436,T,C,R008_S,MIR99A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR99A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17912230,17912230,G,T,R008_S,MIRLET7C,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIRLET7C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44107992,44107992,A,G,R008_S,PDE9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,39914770,39914770,G,T,R008_S,BCOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73507028,73507028,T,C,R008_S,MIR545,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR545,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107380942,107380942,G,A,R008_S,ATG4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133303594,133303594,T,C,R008_S,MIR92A2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR92A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133304000,133304000,C,T,R008_S,MIR19B2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR19B2;MIR20B;MIR363;MIR92A2;MIR106A;MIR18B,dist=93;dist=71,NA,NA,NA,NA,NA,NA,NA,NA
chrX,135301695,135301695,T,C,R008_S,MAP7D3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP7D3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2494225,2494225,G,A,R009_F,TNFRSF14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16950470,16950470,C,T,R009_F,CROCCP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CROCCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28060538,28060538,T,G,R009_F,FAM76A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM76A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36824476,36824476,C,T,R009_F,STK40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144854454,144854454,A,C,R009_F,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158227465,158227465,A,G,R009_F,CD1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31598191,31598191,T,C,R009_F,XDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38973364,38973364,C,G,R009_F,SRSF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRSF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118735670,118735670,C,G,R009_F,CCDC93,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC93,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,125530634,125530634,C,G,R009_F,CNTNAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTNAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,184024137,184024137,A,T,R009_F,NUP35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,192194843,192194843,G,T,R009_F,MYO1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233398628,233398628,G,A,R009_F,CHRND,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRND,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108107781,108107781,C,T,R009_F,MYH15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127334603,127334603,C,T,R009_F,MCM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,168802642,168802642,T,A,R009_F,MECOM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MECOM,NM_001105077:c.*55A>T;NM_005241:c.*55A>T;NM_001163999:c.*55A>T;NM_001105078:c.*55A>T;NM_001366474:c.*55A>T;NM_001164000:c.*55A>T;NM_001366467:c.*55A>T;NM_001366466:c.*55A>T;NM_001366469:c.*55A>T;NM_004991:c.*55A>T;NM_001205194:c.*55A>T;NM_001366472:c.*55A>T;NM_001366471:c.*55A>T;NM_001366470:c.*55A>T;NM_001366468:c.*55A>T;NM_001366473:c.*55A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197894798,197894798,T,C,R009_F,FAM157A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM157A;FAM157B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,37836384,37836384,T,G,R009_F,PGM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55602777,55602777,T,C,R009_F,KIT,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KIT,NM_001093772:exon18:c.2584+2T>C;NM_000222:exon18:c.2596+2T>C,NA,NA,.,.,D,.,.,.
chr4,71110617,71110617,G,T,R009_F,CSN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74607591,74607591,T,C,R009_F,CXCL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXCL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119436164,119436164,C,T,R009_F,PRSS12,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRSS12;CEP170P1,dist=162006;dist=1316,NA,NA,NA,NA,NA,NA,NA,NA
chr4,122257924,122257924,G,T,R009_F,QRFPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QRFPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,186350693,186350693,C,T,R009_F,C4orf47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C4orf47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68728564,68728564,A,G,R009_F,MARVELD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARVELD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,39564098,39564098,A,T,R009_F,KIF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47573869,47573869,C,T,R009_F,CD2AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD2AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,80777510,80777510,T,C,R009_F,TTK,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TTK;BCKDHB,dist=25266;dist=38817,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72286229,72286229,C,A,R009_F,TYW1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73275482,73275482,T,C,R009_F,TMEM270,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TMEM270,dist=7,NA,NA,NA,NA,NA,NA,NA,NA
chr7,89915775,89915775,T,G,R009_F,CFAP69,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP69,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141838568,141838568,A,G,R009_F,MGAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12848288,12848288,G,A,R009_F,TRMT9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRMT9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48847475,48847475,C,T,R009_F,PRKDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62545241,62545241,T,A,R009_F,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,28148951,28148951,A,G,R009_F,LINGO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LINGO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66499770,66499770,G,T,R009_F,PTGER4P2-CDK2AP2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PTGER4P2-CDK2AP2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415231,68415231,T,G,R009_F,MIR4477B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4477B;LINC00537;MIR4477A,dist=77;dist=77,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415318,68415318,G,A,R009_F,MIR4477A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4477A;MIR4477B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,74974534,74974534,C,T,R009_F,ZFAND5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFAND5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,94867423,94867423,C,T,R009_F,SPTLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,94867445,94867445,G,T,R009_F,SPTLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114994252,114994252,A,G,R009_F,PTBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136083693,136083693,T,C,R009_F,OBP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,17641284,17641284,G,A,R009_F,HACD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HACD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,19616476,19616476,T,G,R009_F,MALRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MALRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,84498303,84498303,G,A,R009_F,NRG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9627925,9627925,G,T,R009_F,WEE1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,WEE1;SWAP70,dist=16393;dist=57699,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9627940,9627940,T,C,R009_F,WEE1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,WEE1;SWAP70,dist=16408;dist=57684,NA,NA,NA,NA,NA,NA,NA,NA
chr11,93844844,93844844,T,A,R009_F,HEPHL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8387876,8387876,A,T,R009_F,FAM86FP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM86FP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8387901,8387901,T,G,R009_F,FAM86FP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM86FP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,75813885,75813885,C,T,R009_F,CTAGE11P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CTAGE11P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,96293526,96293526,C,T,R009_F,DZIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DZIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22090642,22090642,G,A,R009_F,OR10G3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR10G3;OR10G2,dist=51767;dist=11350,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69697146,69697146,C,G,R009_F,EXD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69697351,69697351,C,G,R009_F,EXD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74327423,74327423,A,G,R009_F,PTGR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41641509,41641509,T,A,R009_F,NUSAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUSAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78189397,78189397,T,C,R009_F,LINGO1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINGO1;LOC645752,dist=76155;dist=17162,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102288238,102288238,C,T,R009_F,LOC100128108,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100128108;OR4F6,dist=1165;dist=57685,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21561497,21561497,A,G,R009_F,SLC7A5P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC7A5P2;LOC101927814,dist=29732;dist=39522,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32443128,32443128,G,T,R009_F,LOC390705,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC390705;LOC105369266,dist=141826;dist=218336,NA,NA,NA,NA,NA,NA,NA,NA
chr16,34681569,34681569,C,A,R009_F,LINC01566,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01566;FRG2DP,dist=55485;dist=30216,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74447466,74447466,G,T,R009_F,CLEC18B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC18B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,85015399,85015399,C,T,R009_F,ZDHHC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42334655,42334655,C,T,R009_F,SLC4A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71250201,71250201,T,C,R009_F,CPSF4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15480899,15480899,T,C,R009_F,AKAP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33132895,33132895,C,T,R009_F,ANKRD27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41313216,41313216,C,T,R009_F,RAB4B-EGLN2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RAB4B-EGLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41450485,41450485,A,G,R009_F,CYP2B7P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CYP2B7P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49993407,49993407,C,T,R009_F,RPL13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62597455,62597455,T,C,R009_F,ZNF512B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF512B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,42771009,42771009,C,T,R009_F,MX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19170898,19170898,C,T,R009_F,CLTCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24560282,24560282,C,T,R009_F,CABIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CABIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40660625,40660625,C,A,R009_F,TNRC6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNRC6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,22208664,22208664,C,A,R009_F,PHEX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHEX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69593988,69593988,A,T,R009_F,KIF4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73064836,73064836,T,C,R009_F,XIST,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2234660,2234660,C,T,R009_S,SKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16950470,16950470,C,T,R009_S,CROCCP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CROCCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28060538,28060538,T,G,R009_S,FAM76A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM76A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32207876,32207876,G,T,R009_S,ADGRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158227465,158227465,A,G,R009_S,CD1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,215940158,215940158,G,T,R009_S,USH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31598191,31598191,T,C,R009_S,XDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38973364,38973364,C,G,R009_S,SRSF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRSF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48059467,48059467,A,G,R009_S,FBXO11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,87069500,87069500,C,A,R009_S,CD8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,92047521,92047521,A,T,R009_S,GGT8P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGT8P;ACTR3BP2,dist=77368;dist=81638,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97697140,97697140,T,G,R009_S,FAM178B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM178B;FAHD2B,dist=44823;dist=52180,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118735670,118735670,C,G,R009_S,CCDC93,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC93,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128941511,128941511,T,A,R009_S,UGGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191919378,191919378,A,G,R009_S,STAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,19389063,19389063,A,G,R009_S,KCNH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38163755,38163755,C,A,R009_S,DLEC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLEC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52939120,52939120,T,C,R009_S,SFMBT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SFMBT1,NM_016329:c.*32A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,75476735,75476735,C,T,R009_S,FAM86DP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FAM86DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,75476737,75476737,C,T,R009_S,FAM86DP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FAM86DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108107781,108107781,C,T,R009_S,MYH15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,168802642,168802642,T,A,R009_S,MECOM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MECOM,NM_001105077:c.*55A>T;NM_005241:c.*55A>T;NM_001163999:c.*55A>T;NM_001105078:c.*55A>T;NM_001366474:c.*55A>T;NM_001164000:c.*55A>T;NM_001366467:c.*55A>T;NM_001366466:c.*55A>T;NM_001366469:c.*55A>T;NM_004991:c.*55A>T;NM_001205194:c.*55A>T;NM_001366472:c.*55A>T;NM_001366471:c.*55A>T;NM_001366470:c.*55A>T;NM_001366468:c.*55A>T;NM_001366473:c.*55A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,171443755,171443755,G,A,R009_S,PLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20493642,20493642,C,A,R009_S,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55602777,55602777,T,C,R009_S,KIT,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KIT,NM_001093772:exon18:c.2584+2T>C;NM_000222:exon18:c.2596+2T>C,NA,NA,.,.,D,.,.,.
chr4,71110617,71110617,G,T,R009_S,CSN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74607591,74607591,T,C,R009_S,CXCL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXCL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119436164,119436164,C,T,R009_S,PRSS12,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRSS12;CEP170P1,dist=162006;dist=1316,NA,NA,NA,NA,NA,NA,NA,NA
chr4,122257924,122257924,G,T,R009_S,QRFPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QRFPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,41055761,41055761,T,A,R009_S,MROH2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68728564,68728564,A,G,R009_S,MARVELD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARVELD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,80777510,80777510,T,C,R009_S,TTK,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TTK;BCKDHB,dist=25266;dist=38817,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76631515,76631515,G,A,R009_S,DTX2P1-UPK3BP1-PMS2P11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DTX2P1-UPK3BP1-PMS2P11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12848288,12848288,G,A,R009_S,TRMT9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRMT9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48847475,48847475,C,T,R009_S,PRKDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62545241,62545241,T,A,R009_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,44245740,44245740,G,A,R009_S,XLOC_007697,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,XLOC_007697;LOC101927827,dist=63021;dist=138845,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66499770,66499770,G,T,R009_S,PTGER4P2-CDK2AP2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PTGER4P2-CDK2AP2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136083693,136083693,T,C,R009_S,OBP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,17641284,17641284,G,A,R009_S,HACD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HACD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,19616476,19616476,T,G,R009_S,MALRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MALRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,84498303,84498303,G,A,R009_S,NRG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89595690,89595690,G,T,R009_S,TRIM51EP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TRIM51EP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,93844844,93844844,T,A,R009_S,HEPHL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66260528,66260528,A,G,R009_S,HMGA2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HMGA2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124212492,124212492,G,A,R009_S,ATP6V0A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V0A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,75813885,75813885,C,T,R009_S,CTAGE11P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CTAGE11P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22090642,22090642,G,A,R009_S,OR10G3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR10G3;OR10G2,dist=51767;dist=11350,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69697351,69697351,C,G,R009_S,EXD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74327423,74327423,A,G,R009_S,PTGR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41641509,41641509,T,A,R009_S,NUSAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUSAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21561497,21561497,A,G,R009_S,SLC7A5P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC7A5P2;LOC101927814,dist=29732;dist=39522,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31987607,31987607,C,T,R009_S,ZNF267,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF267;LOC102723753,dist=58929;dist=175826,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32443128,32443128,G,T,R009_S,LOC390705,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC390705;LOC105369266,dist=141826;dist=218336,NA,NA,NA,NA,NA,NA,NA,NA
chr16,34681569,34681569,C,A,R009_S,LINC01566,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01566;FRG2DP,dist=55485;dist=30216,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56510140,56510140,A,C,R009_S,OGFOD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OGFOD1,NM_001324359:c.*23A>C;NM_001324361:c.*23A>C;NM_001324362:c.*23A>C;NM_018233:c.*23A>C;NM_001324357:c.*23A>C;NM_001324360:c.*23A>C;NM_001324363:c.*23A>C;NM_001324358:c.*23A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67179393,67179393,C,A,R009_S,C16orf70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19698811,19698811,A,G,R009_S,ULK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ULK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40003756,40003756,G,T,R009_S,KLHL10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71250201,71250201,T,C,R009_S,CPSF4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21447746,21447746,C,G,R009_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33132895,33132895,C,T,R009_S,ANKRD27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49993407,49993407,C,T,R009_S,RPL13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909519,10909519,C,A,R009_S,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,42771009,42771009,C,T,R009_S,MX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24560282,24560282,C,T,R009_S,CABIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CABIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15677250,15677250,A,G,R009_S,CLTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54048685,54048685,T,C,R009_S,PHF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69593988,69593988,A,T,R009_S,KIF4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,72674454,72674454,T,C,R009_S,CDX4,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,CDX4,dist=33,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73064836,73064836,T,C,R009_S,XIST,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,111933406,111933406,C,A,R009_S,LHFPL1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LHFPL1;AMOT,dist=10240;dist=84325,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118975677,118975677,C,G,R009_S,UPF3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UPF3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,148568854,148568854,A,G,R009_S,IDS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,151128302,151128302,C,A,R009_S,GABRE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6711506,6711506,C,A,R010_F,DNAJC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47101643,47101643,C,A,R010_F,ATPAF1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ATPAF1,NM_001243728:exon9:c.529-1G>T;NM_001256418:exon10:c.340-1G>T;NM_001042546:exon7:c.658-1G>T;NM_022745:exon9:c.862-1G>T,NA,NA,.,.,D,.,.,.
chr2,10104304,10104304,G,A,R010_F,GRHL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43518968,43518968,C,A,R010_F,THADA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THADA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,174987826,174987826,C,A,R010_F,OLA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50211174,50211174,G,A,R010_F,SEMA3F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132235199,132235199,G,T,R010_F,DNAJC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555762,20555762,A,T,R010_F,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73433056,73433056,T,G,R010_F,ADAMTS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99952710,99952710,A,G,R010_F,METAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,156725708,156725708,G,T,R010_F,GUCY1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904395,190904395,T,C,R010_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20049;dist=41111,NA,NA,NA,NA,NA,NA,NA,NA
chr5,73166108,73166108,G,T,R010_F,ARHGEF28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,130535348,130535348,C,A,R010_F,LYRM7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LYRM7,NM_001293735:c.*95C>A;NM_181705:c.*54C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136901624,136901624,C,A,R010_F,MAP3K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103416872,103416872,G,T,R010_F,RELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104928578,104928578,C,A,R010_F,RIMS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136303331,136303331,A,G,R010_F,ADAMTS13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139849022,139849022,C,G,R010_F,LCN12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,558151,558151,C,T,R010_F,LMNTD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMNTD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6173208,6173208,G,A,R010_F,OR56B4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR56B4;OR52B2,dist=43143;dist=17377,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17373448,17373448,T,G,R010_F,NCR3LG1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NCR3LG1,NM_001202439:c.-69T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63918627,63918627,G,T,R010_F,MACROD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACROD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76427576,76427576,C,T,R010_F,GUCY2EP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUCY2EP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56748487,56748487,T,C,R010_F,STAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58143425,58143425,G,C,R010_F,TSPAN31,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TSPAN31,NM_005981:c.*2352G>C;NM_001330169:c.*2352G>C;NM_001330168:c.*2352G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69265535,69265535,C,G,R010_F,CPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,108918350,108918350,G,A,R010_F,SART3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SART3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113541913,113541913,G,A,R010_F,RASAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120067724,120067724,G,A,R010_F,TMEM233,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM233,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15797764,15797764,G,A,R010_F,MYH11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYH11,NM_002474:c.*84C>T;NM_022844:c.*225C>T;NM_001040114:c.*84C>T;NM_001040113:c.*225C>T,NA,NA,.,.,N,.,.,T
chr16,57470418,57470418,A,G,R010_F,CIAPIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIAPIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21705616,21705616,C,A,R010_F,TTC39C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC39C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,31463134,31463134,G,A,R010_F,NOL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61569146,61569146,C,T,R010_F,SERPINB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4171070,4171070,C,G,R010_F,CREB3L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CREB3L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8953992,8953992,T,A,R010_F,MBD3L1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MBD3L1,NM_145208:c.*53T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,20231939,20231939,C,A,R010_F,ZNF90,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF90,NM_007138:c.*1770C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56290120,56290120,T,C,R010_F,RFPL4AL1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RFPL4AL1;NLRP11,dist=5334;dist=6643,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3846830,3846830,C,T,R010_F,MAVS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAVS,NM_001206491:c.*36C>T;NM_020746:c.*36C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50964621,50964621,G,A,R010_F,SCO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCO2;TYMP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,142716310,142716310,C,A,R010_F,SLITRK4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLITRK4,NM_173078:c.*101G>T;NM_001184750:c.*101G>T;NM_001184749:c.*101G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,762262,762262,C,T,R010_S,LINC00115,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00115,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,861460,861460,C,T,R010_S,SAMD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,910003,910003,G,A,R010_S,PLEKHN1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLEKHN1,NM_001160184:c.*48G>A;NM_001367552:c.*48G>A;NM_032129:c.*48G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,984838,984838,C,T,R010_S,AGRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,987282,987282,G,A,R010_S,AGRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1104409,1104409,G,A,R010_S,MIR429,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR429,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1140641,1140641,C,T,R010_S,TNFRSF18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1277593,1277593,G,A,R010_S,DVL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DVL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1296621,1296621,C,T,R010_S,MXRA8,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MXRA8,NM_001282583:exon1:c.22+1G>A,NA,NA,.,.,.,.,.,.
chr1,1854176,1854176,G,A,R010_S,CFAP74,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP74,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1875967,1875967,C,T,R010_S,CFAP74,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP74,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2113475,2113475,C,T,R010_S,PRKCZ-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRKCZ-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2264263,2264263,G,A,R010_S,MORN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3414115,3414115,G,A,R010_S,MEGF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3477206,3477206,C,T,R010_S,MEGF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3662640,3662640,C,T,R010_S,TP73-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TP73-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6133835,6133835,G,A,R010_S,KCNAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6158672,6158672,C,T,R010_S,KCNAB2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KCNAB2,NM_001199861:c.*38C>T;NM_003636:c.*38C>T;NM_172130:c.*38C>T;NM_001199860:c.*38C>T;NM_001199863:c.*38C>T;NM_001199862:c.*38C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6158693,6158693,C,T,R010_S,KCNAB2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KCNAB2,NM_001199861:c.*59C>T;NM_003636:c.*59C>T;NM_172130:c.*59C>T;NM_001199860:c.*59C>T;NM_001199863:c.*59C>T;NM_001199862:c.*59C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6161947,6161947,C,T,R010_S,CHD5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CHD5,NM_015557:c.*3587G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6420573,6420573,C,T,R010_S,ACOT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6485416,6485416,G,A,R010_S,ESPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6646136,6646136,C,T,R010_S,ZBTB48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7831370,7831370,C,T,R010_S,VAMP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,VAMP3,NM_004781:c.-74C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7998917,7998917,G,A,R010_S,TNFRSF9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFRSF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,8715934,8715934,C,T,R010_S,RERE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RERE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9781130,9781130,G,A,R010_S,PIK3CD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9781717,9781717,G,A,R010_S,PIK3CD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9794968,9794968,C,T,R010_S,CLSTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLSTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9931450,9931450,G,A,R010_S,CTNNBIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNBIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10714418,10714418,G,A,R010_S,CASZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10725062,10725062,C,T,R010_S,CASZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11105411,11105411,G,A,R010_S,MASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11150480,11150480,G,A,R010_S,EXOSC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11585194,11585194,G,A,R010_S,DISP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11589583,11589583,G,A,R010_S,DISP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11828118,11828118,C,T,R010_S,C1orf167,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf167,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11854647,11854647,C,T,R010_S,MTHFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTHFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11886312,11886312,C,T,R010_S,CLCN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12071549,12071549,G,A,R010_S,MFN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12806272,12806272,G,A,R010_S,C1orf158,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C1orf158,NM_152290:c.-107G>A;NM_001330361:c.-107G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15429989,15429989,C,T,R010_S,KAZN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAZN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15623048,15623048,C,T,R010_S,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15671858,15671858,G,A,R010_S,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15709489,15709489,C,T,R010_S,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15906501,15906501,G,A,R010_S,AGMAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGMAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15953126,15953126,C,T,R010_S,DDI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16065937,16065937,G,A,R010_S,SLC25A34,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC25A34,NM_207348:c.*36G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16358643,16358643,C,T,R010_S,CLCNKA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCNKA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16456696,16456696,C,T,R010_S,EPHA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16730400,16730400,C,T,R010_S,SPATA21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17033825,17033825,G,A,R010_S,ESPNP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ESPNP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17401482,17401482,G,A,R010_S,PADI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PADI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17661799,17661799,C,T,R010_S,PADI4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PADI4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17690251,17690251,G,A,R010_S,PADI4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PADI4,NM_012387:c.*1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17739805,17739805,G,A,R010_S,RCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,18810363,18810363,G,A,R010_S,KLHDC7A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KLHDC7A,NM_152375:c.*554G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19062572,19062572,G,A,R010_S,PAX7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PAX7,NM_002584:c.*39G>A;NM_013945:c.*39G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19199298,19199298,C,T,R010_S,ALDH4A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ALDH4A1,NM_001319218:c.*41G>A;NM_001161504:c.*41G>A;NM_170726:c.*41G>A;NM_003748:c.*41G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19445337,19445337,C,T,R010_S,UBR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19446576,19446576,G,A,R010_S,UBR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19470649,19470649,C,T,R010_S,UBR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19488082,19488082,C,T,R010_S,UBR4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,UBR4,NM_020765:exon37:c.5175+1G>A,NA,NA,.,.,D,.,.,.
chr1,19638620,19638620,G,C,R010_S,AKR7A2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,AKR7A2,NM_001320979:c.-2C>G;NM_003689:c.-2C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19654174,19654174,G,A,R010_S,SLC66A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC66A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20466568,20466568,C,T,R010_S,PLA2G2F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G2F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20474631,20474631,G,A,R010_S,PLA2G2F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G2F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21551934,21551934,C,T,R010_S,ECE1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ECE1,NM_001113348:exon17:c.1802-1G>A;NM_001397:exon17:c.1850-1G>A;NM_001113349:exon16:c.1841-1G>A;NM_001113347:exon15:c.1814-1G>A,NA,NA,.,.,D,.,.,.
chr1,21583913,21583913,C,T,R010_S,ECE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21929234,21929234,C,T,R010_S,RAP1GAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAP1GAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21936012,21936012,C,T,R010_S,RAP1GAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAP1GAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21961206,21961206,C,T,R010_S,RAP1GAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAP1GAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22151364,22151364,G,A,R010_S,LDLRAD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LDLRAD2,NM_001013693:c.*2656G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22186248,22186248,C,T,R010_S,HSPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22217040,22217040,G,A,R010_S,HSPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22851022,22851022,G,A,R010_S,ZBTB40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22921873,22921873,C,T,R010_S,EPHA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23405395,23405395,G,A,R010_S,KDM1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23755231,23755231,C,T,R010_S,ASAP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ASAP3,NM_001143778:c.*1118G>A;NM_017707:c.*1118G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24119538,24119538,C,T,R010_S,LYPLA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LYPLA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24133682,24133682,G,A,R010_S,HMGCL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGCL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24790645,24790645,C,T,R010_S,NIPAL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25780733,25780733,C,T,R010_S,MACO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26109059,26109059,C,T,R010_S,MAN1C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN1C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26606554,26606554,C,T,R010_S,SH3BGRL3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SH3BGRL3,dist=23,NA,NA,.,N,D,.,.,T
chr1,26663500,26663500,C,T,R010_S,CRYBG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYBG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26769433,26769433,C,T,R010_S,DHDDS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHDDS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26877770,26877770,G,A,R010_S,RPS6KA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26880957,26880957,C,T,R010_S,RPS6KA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26900520,26900520,C,T,R010_S,RPS6KA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27618656,27618656,C,T,R010_S,WDTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27658970,27658970,G,A,R010_S,TMEM222,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM222,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27709576,27709576,G,A,R010_S,CD164L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD164L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28879803,28879803,C,T,R010_S,TRNAU1AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRNAU1AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31422883,31422883,G,A,R010_S,PUM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31425054,31425054,C,T,R010_S,PUM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31478668,31478668,G,A,R010_S,PUM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31528351,31528351,C,T,R010_S,PUM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32046243,32046243,G,A,R010_S,TINAGL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TINAGL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32127153,32127153,C,T,R010_S,COL16A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL16A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32153892,32153892,G,A,R010_S,COL16A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL16A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32201400,32201400,C,T,R010_S,ADGRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32224900,32224900,G,A,R010_S,ADGRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32653763,32653763,C,T,R010_S,TXLNA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXLNA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32682734,32682734,G,A,R010_S,TMEM234,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM234,NA,NA,NA,D,N,N,.,N,T
chr1,32797205,32797205,C,T,R010_S,HDAC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32849337,32849337,G,A,R010_S,BSDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BSDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,34065690,34065690,G,A,R010_S,CSMD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35250323,35250323,C,T,R010_S,GJB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GJB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35447469,35447469,G,A,R010_S,TMEM35B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM35B,NM_001195156:c.*76C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36809678,36809678,T,G,R010_S,STK40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36933340,36933340,C,T,R010_S,CSF3R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSF3R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,37962263,37962263,C,T,R010_S,MEAF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEAF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38220138,38220138,C,T,R010_S,EPHA10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38488365,38488365,C,T,R010_S,UTP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40095775,40095775,C,T,R010_S,HEYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40688160,40688160,C,T,R010_S,RLF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RLF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40916631,40916631,G,A,R010_S,ZFP69B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZFP69B,NM_001369565:c.-3G>A;NM_023070:c.-3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41483217,41483217,C,T,R010_S,SLFNL1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SLFNL1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41976038,41976038,G,A,R010_S,HIVEP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HIVEP3,NM_024503:c.*84C>T;NM_001127714:c.*84C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,42693547,42693547,C,T,R010_S,FOXJ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXJ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43205432,43205432,G,A,R010_S,CLDN19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLDN19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43215780,43215780,C,T,R010_S,P3H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P3H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43223597,43223597,C,T,R010_S,P3H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P3H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43308117,43308117,C,T,R010_S,ERMAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERMAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43785216,43785216,G,A,R010_S,TIE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43830577,43830577,C,T,R010_S,ELOVL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELOVL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43904582,43904582,C,T,R010_S,SZT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SZT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43915911,43915911,C,T,R010_S,SZT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SZT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44086402,44086402,C,T,R010_S,PTPRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44482883,44482883,C,T,R010_S,SLC6A9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC6A9,NM_001328627:c.-41G>A;NM_001328628:c.-41G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44774151,44774151,G,A,R010_S,ERI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44788532,44788532,G,A,R010_S,ERI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45101130,45101130,G,A,R010_S,RNF220,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF220,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45252398,45252398,G,A,R010_S,BEST4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BEST4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45292786,45292786,C,T,R010_S,PTCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45506228,45506228,G,A,R010_S,ZSWIM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45797558,45797558,G,A,R010_S,MUTYH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUTYH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46654252,46654252,C,T,R010_S,POMGNT1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,POMGNT1,dist=101,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47046038,47046038,G,A,R010_S,MKNK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MKNK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47099455,47099455,G,A,R010_S,MOB3C,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MOB3C;ATPAF1,dist=16892;dist=1256,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47101643,47101643,C,A,R010_S,ATPAF1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ATPAF1,NM_001243728:exon9:c.529-1G>T;NM_001256418:exon10:c.340-1G>T;NM_001042546:exon7:c.658-1G>T;NM_022745:exon9:c.862-1G>T,NA,NA,.,.,D,.,.,.
chr1,47155371,47155371,G,A,R010_S,EFCAB14-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,EFCAB14-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47602989,47602989,G,A,R010_S,CYP4A22,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CYP4A22,dist=108,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47603081,47603081,C,T,R010_S,CYP4A22,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CYP4A22,dist=16,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47603108,47603108,G,A,R010_S,CYP4A22,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CYP4A22,NM_001308102:c.-50G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47799603,47799603,G,A,R010_S,CMPK1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CMPK1,NM_001136140:c.-15G>A;NM_001366135:c.-111G>A;NM_016308:c.-15G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,50569843,50569843,C,G,R010_S,ELAVL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAVL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51048418,51048418,C,T,R010_S,FAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51767408,51767408,G,A,R010_S,TTC39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52490368,52490368,G,A,R010_S,TXNDC12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52838827,52838827,C,T,R010_S,ORC1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ORC1,NM_001190819:c.*26G>A;NM_001190818:c.*26G>A;NM_004153:c.*26G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53363263,53363263,G,A,R010_S,ECHDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECHDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53392982,53392982,G,C,R010_S,SCP2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SCP2,NM_001330587:c.-87G>C;NM_001007098:c.-87G>C;NM_001193617:c.-23489G>C;NM_001193599:c.-87G>C;NM_002979:c.-87G>C;NM_001193600:c.-87G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53554708,53554708,G,A,R010_S,SLC1A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53569314,53569314,G,A,R010_S,SLC1A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53692577,53692577,G,A,R010_S,MAGOH,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAGOH,NM_002370:c.*140C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53740368,53740368,G,A,R010_S,LRP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53742356,53742356,G,A,R010_S,LRP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55168423,55168423,G,A,R010_S,MROH7-TTC4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MROH7-TTC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55537913,55537913,G,A,R010_S,USP24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,57209573,57209573,C,T,R010_S,FYB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FYB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,60139953,60139953,C,T,R010_S,FGGY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGGY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,61824777,61824777,G,A,R010_S,NFIA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFIA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62393392,62393392,G,A,R010_S,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62516733,62516733,G,A,R010_S,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,64608469,64608469,G,A,R010_S,ROR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ROR1,NM_001083592:c.*128G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65304290,65304290,C,T,R010_S,JAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65309907,65309907,C,T,R010_S,JAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67437256,67437256,G,A,R010_S,MIER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,68611461,68611461,G,A,R010_S,GNG12-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GNG12-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70697887,70697887,G,A,R010_S,SRSF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRSF11,NA,NA,NA,D,.,D,.,N,T
chr1,71331341,71331341,C,T,R010_S,PTGER3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGER3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,75685352,75685352,G,A,R010_S,SLC44A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78421128,78421128,G,A,R010_S,FUBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,79357144,79357144,C,T,R010_S,ADGRL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,79411910,79411910,C,T,R010_S,ADGRL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,85488094,85488094,G,A,R010_S,MCOLN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCOLN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,85930736,85930736,G,A,R010_S,DDAH1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DDAH1,NM_012137:c.-8C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,86047565,86047565,C,T,R010_S,CCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,86314989,86314989,G,A,R010_S,COL24A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL24A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,86814615,86814615,G,A,R010_S,ODF2L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ODF2L,NM_020729:c.*3259C>T;NM_001366783:c.*3259C>T;NM_001007022:c.*3259C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,87108425,87108425,C,T,R010_S,CLCA3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CLCA3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89733216,89733216,G,A,R010_S,GBP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,91846428,91846428,G,A,R010_S,HFM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HFM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92108004,92108004,G,A,R010_S,CDC7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CDC7;TGFBR3,dist=116683;dist=37896,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92612966,92612966,C,T,R010_S,BTBD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTBD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,95305606,95305606,C,T,R010_S,SLC44A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,95392342,95392342,G,A,R010_S,CNN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100614827,100614827,C,T,R010_S,TRMT13,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRMT13,NM_019083:c.*451C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103468258,103468258,G,A,R010_S,COL11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103483338,103483338,C,T,R010_S,COL11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103496625,103496625,C,T,R010_S,COL11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,104078079,104078079,C,T,R010_S,RNPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,108735054,108735054,C,T,R010_S,SLC25A24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109804420,109804420,C,T,R010_S,CELSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109823121,109823121,G,A,R010_S,PSRC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110009637,110009637,G,A,R010_S,SYPL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYPL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110019347,110019347,G,A,R010_S,SYPL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYPL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110255358,110255358,G,A,R010_S,GSTM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110294147,110294147,G,A,R010_S,EPS8L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110589254,110589254,G,A,R010_S,STRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113240879,113240879,G,A,R010_S,MOV10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOV10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113242467,113242467,C,T,R010_S,MOV10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOV10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114196376,114196376,G,A,R010_S,MAGI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,116676089,116676089,G,A,R010_S,MAB21L3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAB21L3,NM_152367:c.*103G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,116916795,116916795,G,A,R010_S,ATP1A1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATP1A1,NM_001160233:c.-57G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118616591,118616591,C,T,R010_S,SPAG17,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SPAG17,NM_206996:exon17:c.2272-1G>A,NA,NA,.,.,D,.,.,.
chr1,120269756,120269756,G,A,R010_S,PHGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145039726,145039726,C,T,R010_S,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145039770,145039770,C,T,R010_S,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145441054,145441054,G,A,R010_S,TXNIP,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TXNIP,NM_006472:exon7:c.1140+1G>A;NM_001313972:exon6:c.975+1G>A,NA,NA,.,.,.,.,.,.
chr1,145509248,145509248,C,T,R010_S,RBM8A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RBM8A,NM_005105:c.*37C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145516268,145516268,C,T,R010_S,NBPF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF10;NBPF19;NBPF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150117130,150117130,G,A,R010_S,VPS45,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,VPS45,NM_001279353:c.*31G>A;NM_001279354:c.*156G>A;NM_007259:c.*156G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150235939,150235939,G,A,R010_S,CA14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150239976,150239976,C,T,R010_S,APH1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APH1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150284163,150284163,G,A,R010_S,MRPS21,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MRPS21;PRPF3,dist=2749;dist=9754,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150471774,150471774,G,A,R010_S,TARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150601493,150601493,C,T,R010_S,ENSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150815004,150815004,G,A,R010_S,ARNT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150818730,150818730,C,T,R010_S,ARNT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150936885,150936885,G,A,R010_S,SETDB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SETDB1,NM_001366417:c.*45G>A;NM_012432:c.*45G>A;NM_001145415:c.*45G>A;NM_001366418:c.*45G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151026722,151026722,G,A,R010_S,CDC42SE1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDC42SE1,NM_001038707:c.*1C>T;NM_020239:c.*1C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151108332,151108332,C,T,R010_S,SEMA6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151261216,151261216,G,A,R010_S,ZNF687,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF687,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151267042,151267042,G,A,R010_S,PI4KB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PI4KB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151803502,151803502,G,A,R010_S,RORC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RORC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153736240,153736240,C,T,R010_S,INTS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153920525,153920525,G,A,R010_S,CRTC2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CRTC2,NM_181715:c.*60C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153941726,153941726,C,T,R010_S,CREB3L4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CREB3L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154099761,154099761,C,T,R010_S,NUP210L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP210L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154232410,154232410,C,T,R010_S,UBAP2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBAP2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154243286,154243286,G,A,R010_S,UBAP2L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UBAP2L,NM_014847:c.*515G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154527131,154527131,G,A,R010_S,UBE2Q1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,UBE2Q1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154950684,154950684,G,A,R010_S,CKS1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKS1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155147113,155147113,C,T,R010_S,TRIM46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM46,NA,NA,NA,.,.,D,.,.,T
chr1,155149795,155149795,G,A,R010_S,TRIM46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155167779,155167779,C,T,R010_S,THBS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THBS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155221408,155221408,G,A,R010_S,FAM189B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM189B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155233845,155233845,G,A,R010_S,CLK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155309033,155309033,G,A,R010_S,ASH1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASH1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155311921,155311921,C,T,R010_S,ASH1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASH1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155531869,155531869,G,A,R010_S,ASH1L-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ASH1L-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155584469,155584469,G,A,R010_S,MSTO2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MSTO2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155921709,155921709,C,T,R010_S,ARHGEF2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ARHGEF2,NM_001162384:exon17:c.2169+1G>A;NM_004723:exon17:c.2088+1G>A;NM_001350110:exon17:c.2091+1G>A;NM_001350111:exon17:c.2091+1G>A;NM_001350112:exon17:c.2118+1G>A;NM_001162383:exon17:c.2172+1G>A,NA,NA,.,.,D,.,.,.
chr1,155928020,155928020,G,A,R010_S,ARHGEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156128407,156128407,G,A,R010_S,SEMA4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156219755,156219755,G,A,R010_S,SMG5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SMG5,NM_001323614:c.*623C>T;NM_001323615:c.*623C>T;NM_001323616:c.*623C>T;NM_001323617:c.*623C>T;NM_015327:c.*623C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156307889,156307889,G,A,R010_S,CCT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT3;TSACC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156352155,156352155,C,T,R010_S,RHBG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156437677,156437677,G,A,R010_S,MEF2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEF2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156539107,156539107,C,T,R010_S,IQGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156553688,156553688,G,A,R010_S,TTC24,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TTC24,NM_001105669:exon5:c.1251+1G>A,NA,NA,.,.,D,.,.,.
chr1,156647208,156647208,G,A,R010_S,NES,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NES,dist=9,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156721954,156721954,G,A,R010_S,HDGF,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HDGF,NM_001126051:c.-59C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156916831,156916831,G,A,R010_S,ARHGEF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157652952,157652952,C,T,R010_S,FCRL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157680241,157680241,G,A,R010_S,FCRL3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FCRL3;FCRL2,dist=9682;dist=35282,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159847285,159847285,C,T,R010_S,CFAP45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159862903,159862903,C,T,R010_S,CFAP45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160106561,160106561,G,A,R010_S,ATP1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160162696,160162696,G,A,R010_S,CASQ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASQ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160313079,160313079,C,T,R010_S,COPA,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,COPA;NCSTN,dist=94,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161011792,161011792,G,A,R010_S,USF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161141908,161141908,C,T,R010_S,B4GALT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161682100,161682100,G,A,R010_S,FCRLA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRLA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,162749832,162749832,C,T,R010_S,DDR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,166845639,166845639,C,T,R010_S,TADA1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TADA1,dist=138,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167023533,167023533,C,T,R010_S,GPA33,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPA33,NM_005814:c.*38G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167407928,167407928,C,T,R010_S,CD247,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD247,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167905159,167905159,C,T,R010_S,MPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169961449,169961449,G,A,R010_S,KIFAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIFAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,172398136,172398136,G,A,R010_S,C1orf105,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf105,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,172410822,172410822,G,A,R010_S,PIGC,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PIGC,NM_153747:c.*47C>T;NM_002642:c.*47C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173012999,173012999,G,A,R010_S,TNFSF18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFSF18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173446474,173446474,G,A,R010_S,PRDX6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PRDX6,NM_004905:c.-63G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173834371,173834371,G,A,R010_S,GAS5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GAS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173873004,173873004,G,A,R010_S,SERPINC1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SERPINC1,NM_001365052:c.*23C>T;NM_000488:c.*23C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,175116242,175116242,C,T,R010_S,TNN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNN,NM_022093:c.*35C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176105704,176105704,G,A,R010_S,COP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,180063805,180063805,G,A,R010_S,CEP350,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP350,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181714536,181714536,G,A,R010_S,CACNA1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182571329,182571329,G,A,R010_S,RGS16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183895471,183895471,C,T,R010_S,RGL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RGL1,NM_001297669:c.*45C>T;NM_015149:c.*45C>T;NM_001297670:c.*45C>T;NM_001297671:c.*45C>T;NM_001297672:c.*45C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,184588803,184588803,G,A,R010_S,C1orf21,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C1orf21,NM_030806:c.*113G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,184772868,184772868,C,T,R010_S,NIBAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIBAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186344345,186344345,G,A,R010_S,TPR,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TPR,NM_003292:c.-185C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200183034,200183034,G,A,R010_S,NR5A2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NR5A2;LINC00862,dist=36484;dist=128638,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200801767,200801767,G,A,R010_S,CAMSAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMSAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200974835,200974835,G,A,R010_S,KIF21B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF21B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201115669,201115669,G,A,R010_S,TMEM9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201164947,201164947,C,T,R010_S,IGFN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGFN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201184078,201184078,G,A,R010_S,IGFN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGFN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201187862,201187862,G,A,R010_S,IGFN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGFN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201328883,201328883,G,A,R010_S,TNNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201338424,201338424,C,T,R010_S,TNNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201751268,201751268,G,A,R010_S,IPO9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,IPO9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201858213,201858213,G,A,R010_S,SHISA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHISA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201974660,201974660,G,A,R010_S,ELF3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ELF3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202107270,202107270,C,T,R010_S,ARL8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202163365,202163365,G,A,R010_S,LGR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202183378,202183378,G,A,R010_S,LGR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202725686,202725686,C,T,R010_S,KDM5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204083561,204083561,G,A,R010_S,SOX13,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SOX13,NM_005686:exon3:c.331+1G>A,NA,NA,.,.,D,.,.,.
chr1,204499981,204499981,G,A,R010_S,MDM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204944580,204944580,G,A,R010_S,NFASC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFASC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204960334,204960334,C,T,R010_S,NFASC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFASC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205498909,205498909,G,A,R010_S,CDK18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205884325,205884325,G,A,R010_S,SLC26A9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC26A9,NM_052934:c.*160C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206785577,206785577,G,A,R010_S,EIF2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207086480,207086480,G,A,R010_S,FCMR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCMR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207106521,207106521,G,A,R010_S,PIGR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207133179,207133179,G,A,R010_S,FCAMR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCAMR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207754051,207754051,G,A,R010_S,CR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,208215722,208215722,G,A,R010_S,PLXNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,209797417,209797417,G,A,R010_S,LAMB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,212532011,212532011,G,A,R010_S,PPP2R5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,216372946,216372946,G,A,R010_S,USH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220356025,220356025,G,A,R010_S,RAB3GAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3GAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220754384,220754384,G,A,R010_S,MARK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220804548,220804548,G,A,R010_S,MARK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220870125,220870125,G,A,R010_S,C1orf115,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C1orf115,NM_024709:c.*52G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220970173,220970173,G,A,R010_S,1-Mar,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,1-Mar,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,222833495,222833495,C,T,R010_S,MIA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223810309,223810309,G,A,R010_S,CAPN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223985894,223985894,C,T,R010_S,TP53BP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TP53BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224577592,224577592,G,A,R010_S,WDR26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224805060,224805060,G,A,R010_S,CNIH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNIH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225339668,225339668,G,A,R010_S,DNAH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225976923,225976923,C,T,R010_S,SRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226032093,226032093,G,A,R010_S,EPHX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226576459,226576459,G,A,R010_S,PARP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227172364,227172364,C,T,R010_S,COQ8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227198764,227198764,G,A,R010_S,CDC42BPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228284687,228284687,G,A,R010_S,ARF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228284800,228284800,C,T,R010_S,ARF1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ARF1,NM_001024226:c.-16C>T;NM_001658:c.-16C>T;NM_001024228:c.-16C>T;NM_001024227:c.-16C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228461826,228461826,G,A,R010_S,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228539010,228539010,G,A,R010_S,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230472807,230472807,C,T,R010_S,PGBD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGBD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,231489160,231489160,G,A,R010_S,SPRTN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SPRTN,NM_001261462:c.*1808G>A;NM_001010984:c.*1808G>A;NM_032018:c.*53G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,231957267,231957267,G,A,R010_S,TSNAX-DISC1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TSNAX-DISC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,233120033,233120033,G,A,R010_S,PCNX2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PCNX2,NM_014801:c.*17C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,234595077,234595077,C,T,R010_S,TARBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TARBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,234606923,234606923,G,A,R010_S,TARBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TARBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236385196,236385196,G,A,R010_S,ERO1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237789109,237789109,G,A,R010_S,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237841423,237841423,C,T,R010_S,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,240254926,240254926,C,T,R010_S,FMN2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,FMN2,dist=257,NA,NA,NA,NA,NA,NA,NA,NA
chr1,240255069,240255069,G,A,R010_S,FMN2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,FMN2,dist=114,NA,NA,NA,NA,NA,NA,NA,NA
chr1,240975364,240975364,G,A,R010_S,RGS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,241932831,241932831,G,A,R010_S,WDR64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,243433376,243433376,G,A,R010_S,SDCCAG8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDCCAG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,245165452,245165452,G,A,R010_S,EFCAB2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EFCAB2,NM_001290327:c.-28G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,246078968,246078968,G,A,R010_S,SMYD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMYD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247275610,247275610,G,A,R010_S,C1orf229,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C1orf229,NM_207401:c.-84C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247582093,247582093,G,A,R010_S,NLRP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NLRP3,NM_001127461:c.-4G>A;NM_001079821:c.-4G>A;NM_004895:c.-4G>A;NM_001127462:c.-4G>A;NM_001243133:c.-10G>A;NM_183395:c.-4G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247654426,247654426,G,A,R010_S,OR2W5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OR2W5,NM_001004698:c.-4G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,248167018,248167018,G,A,R010_S,OR2L13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OR2L13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1696231,1696231,C,T,R010_S,PXDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3447718,3447718,C,T,R010_S,TRAPPC12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3743560,3743560,C,T,R010_S,ALLC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALLC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,9683248,9683248,G,A,R010_S,ADAM17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10051606,10051606,C,T,R010_S,TAF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10580995,10580995,C,T,R010_S,ODC1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ODC1,NM_001287188:exon12:c.855-1G>A;NM_001287189:exon12:c.1242-1G>A;NM_001287190:exon12:c.1242-1G>A;NM_002539:exon12:c.1242-1G>A,NA,NA,.,.,D,.,.,.
chr2,10799126,10799126,G,A,R010_S,NOL10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10922616,10922616,A,G,R010_S,ATP6V1C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11755140,11755140,G,A,R010_S,GREB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GREB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11905567,11905567,C,T,R010_S,LPIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,14775027,14775027,C,T,R010_S,LRATD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRATD1,NM_145175:c.*45C>T;NM_001369364:c.*45C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,15676689,15676689,G,A,R010_S,NBAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,16769471,16769471,C,T,R010_S,FAM49A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM49A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20251126,20251126,C,T,R010_S,LAPTM4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAPTM4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,21247579,21247579,C,T,R010_S,APOB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24392439,24392439,C,T,R010_S,FAM228B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FAM228B,NM_001291328:c.*229C>T;NM_001145710:c.*229C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,25498453,25498453,G,A,R010_S,DNMT3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNMT3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26540473,26540473,G,A,R010_S,ADGRF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26676182,26676182,C,T,R010_S,DRC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26785476,26785476,C,T,R010_S,FAM166C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM166C,NM_001322426:c.-9508C>T;NM_001105519:c.-5C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27164995,27164995,G,A,R010_S,DPYSL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPYSL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27260981,27260981,C,T,R010_S,TMEM214,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM214,NA,NA,NA,D,.,N,.,N,T
chr2,27276741,27276741,C,T,R010_S,AGBL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGBL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27480277,27480277,C,T,R010_S,SLC30A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC30A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27486137,27486137,C,T,R010_S,SLC30A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC30A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27505578,27505578,G,A,R010_S,TRIM54,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TRIM54,NM_187841:c.-22G>A;NM_032546:c.-22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27532666,27532666,C,T,R010_S,MPV17,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MPV17,NM_002437:c.*114G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27535487,27535487,G,A,R010_S,MPV17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPV17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27592942,27592942,G,A,R010_S,EIF2B4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27701076,27701076,G,A,R010_S,IFT172,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT172,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27715697,27715697,C,T,R010_S,FNDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27789333,27789333,G,A,R010_S,GCKR,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GCKR;C2orf16,dist=42783;dist=10056,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27806700,27806700,C,T,R010_S,ZNF512,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF512,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27886540,27886540,C,T,R010_S,SLC4A1AP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC4A1AP;SUPT7L,NM_018158:c.-80C>T;NM_001282729:c.-1481G>A;NM_001282730:c.-2277G>A;NM_001282731:c.-2277G>A;NM_001282732:c.-1481G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,28084300,28084300,C,T,R010_S,RBKS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBKS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,28635408,28635408,G,A,R010_S,FOSL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FOSL2,NM_005253:c.*93G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,29240010,29240010,C,T,R010_S,TOGARAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOGARAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,30973950,30973950,C,T,R010_S,CAPN13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31571850,31571850,G,A,R010_S,XDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,36771663,36771663,G,A,R010_S,CRIM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRIM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37365338,37365338,C,T,R010_S,EIF2AK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2AK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37503115,37503115,C,T,R010_S,PRKD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39417407,39417407,C,T,R010_S,CDKL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39478943,39478943,G,A,R010_S,MAP4K3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42180340,42180340,G,A,R010_S,C2orf91,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C2orf91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42530179,42530179,C,T,R010_S,EML4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42588343,42588343,C,T,R010_S,COX7A2L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,COX7A2L,NM_001319038:c.-42G>A;NM_004718:c.-42G>A;NM_001319036:c.-42G>A;NM_001319040:c.-42G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43451368,43451368,C,T,R010_S,ZFP36L2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZFP36L2,NM_006887:c.*90G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43453381,43453381,G,A,R010_S,ZFP36L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP36L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44153128,44153128,C,T,R010_S,LRPPRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRPPRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48741988,48741988,G,A,R010_S,PPP1R21,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PPP1R21,NM_152994:c.*105G>A;NM_001135629:c.*105G>A;NM_001193475:c.*105G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48844941,48844941,C,T,R010_S,GTF2A1L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GTF2A1L,NM_001193487:c.-73C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,51149740,51149740,C,T,R010_S,NRXN1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NRXN1,NM_001330089:c.*3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,54864959,54864959,C,T,R010_S,SPTBN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55122583,55122583,G,A,R010_S,EML6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61391674,61391674,G,A,R010_S,C2orf74,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C2orf74,NM_001143960:c.*12G>A;NM_001316317:c.*12G>A;NM_001367071:c.*12G>A;NM_001367070:c.*12G>A;NM_001367069:c.*12G>A;NM_001143959:c.*12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,62096491,62096491,C,T,R010_S,CCT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,65341095,65341095,G,A,R010_S,RAB1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,66669993,66669993,C,T,R010_S,MEIS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,68615691,68615691,C,T,R010_S,PLEK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69565249,69565249,G,A,R010_S,GFPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69586363,69586363,C,T,R010_S,GFPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70047732,70047732,G,A,R010_S,ANXA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70502017,70502017,C,T,R010_S,PCYOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCYOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70919505,70919505,C,T,R010_S,ADD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71170947,71170947,C,T,R010_S,ATP6V1B1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ATP6V1B1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71186364,71186364,C,T,R010_S,ATP6V1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71209235,71209235,G,A,R010_S,ANKRD53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71304652,71304652,G,A,R010_S,NAGK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAGK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71891316,71891316,G,A,R010_S,DYSF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYSF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71901312,71901312,C,T,R010_S,DYSF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYSF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,72561859,72561859,C,T,R010_S,EXOC6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73491265,73491265,C,T,R010_S,FBXO41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74617834,74617834,C,T,R010_S,DCTN1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DCTN1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74720561,74720561,G,A,R010_S,TTC31,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TTC31,NM_022492:c.*216G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74732915,74732915,C,T,R010_S,PCGF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCGF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74753873,74753873,G,A,R010_S,AUP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AUP1,NM_181575:c.*54C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74776717,74776717,G,A,R010_S,DOK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOK1;LOXL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80555379,80555379,C,T,R010_S,CTNNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85874988,85874988,C,T,R010_S,USP39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85895219,85895219,G,A,R010_S,SFTPB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFTPB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86067562,86067562,C,T,R010_S,ST3GAL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST3GAL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86067563,86067563,A,T,R010_S,ST3GAL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST3GAL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95953916,95953916,G,A,R010_S,PROM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95954072,95954072,C,T,R010_S,PROM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97267816,97267816,G,A,R010_S,KANSL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANSL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97652144,97652144,G,A,R010_S,FAM178B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM178B,NM_001122646:c.-94C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98354598,98354598,C,T,R010_S,ZAP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98426303,98426303,C,T,R010_S,TMEM131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98432268,98432268,C,T,R010_S,TMEM131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98451173,98451173,C,T,R010_S,TMEM131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98948103,98948103,G,A,R010_S,VWA3B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,VWA3B;CNGA3,dist=18354;dist=14515,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99220663,99220663,G,A,R010_S,COA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,100024415,100024415,C,T,R010_S,REV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,100903289,100903289,C,T,R010_S,LONRF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LONRF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,100986747,100986747,C,T,R010_S,LONRF2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LONRF2;CHST10,dist=47552;dist=21575,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102965712,102965712,G,A,R010_S,IL1RL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102984565,102984565,C,T,R010_S,IL18R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL18R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,103001335,103001335,C,T,R010_S,IL18R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL18R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,109405521,109405521,C,T,R010_S,CCDC138,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC138,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,110873370,110873370,G,A,R010_S,MALL,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MALL,NM_005434:c.-1C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111427147,111427147,G,A,R010_S,BUB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BUB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113322100,113322100,G,A,R010_S,POLR1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118854087,118854087,C,T,R010_S,INSIG2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,INSIG2,NM_016133:c.-46C>T;NM_001321329:c.-46C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,119735376,119735376,C,T,R010_S,MARCO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,119752197,119752197,C,T,R010_S,MARCO,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MARCO,NM_006770:c.*101C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120197587,120197587,G,A,R010_S,SCTR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SCTR,NM_002980:c.*106C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120197660,120197660,G,A,R010_S,SCTR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SCTR,NM_002980:c.*33C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120362209,120362209,T,C,R010_S,CFAP221,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP221,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120387359,120387359,G,A,R010_S,CFAP221,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP221,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120409468,120409468,C,T,R010_S,CFAP221,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP221,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120997602,120997602,C,T,R010_S,TMEM185B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TMEM185B;RALB,dist=16626;dist=12826,NA,NA,NA,NA,NA,NA,NA,NA
chr2,125367374,125367374,C,T,R010_S,CNTNAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTNAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,127413985,127413985,C,T,R010_S,GYPC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYPC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,127950576,127950576,C,T,R010_S,CYP27C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP27C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128317275,128317275,G,A,R010_S,MYO7B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MYO7B,NM_001080527:c.-23G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128342596,128342596,G,A,R010_S,MYO7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128860874,128860874,G,A,R010_S,UGGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128886791,128886791,C,T,R010_S,UGGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,131114261,131114261,C,T,R010_S,PTPN18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,131130540,131130540,G,A,R010_S,PTPN18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135102674,135102674,C,T,R010_S,MGAT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135743334,135743334,C,T,R010_S,MAP3K19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136026531,136026531,C,T,R010_S,ZRANB3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZRANB3,NM_032143:exon11:c.1386+1G>A;NM_001286569:exon12:c.24+1G>A;NM_001286568:exon11:c.1386+1G>A,NA,NA,.,.,D,.,.,.
chr2,136540217,136540217,G,A,R010_S,UBXN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBXN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,149246920,149246920,C,T,R010_S,MBD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152131994,152131994,G,A,R010_S,NMI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NMI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152404944,152404944,T,C,R010_S,NEB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152544123,152544123,C,T,R010_S,NEB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153417383,153417383,C,T,R010_S,FMNL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153573955,153573955,C,T,R010_S,PRPF40A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PRPF40A,NM_017892:c.-2G>A;NM_001365601:c.-2G>A;NM_001354432:c.-22819G>A;NM_001354431:c.-2G>A;NM_001365602:c.-2844G>A;NM_001365604:c.-2844G>A;NM_001365603:c.-2844G>A;NM_001365598:c.-2G>A;NM_001365599:c.-2G>A;NM_001365600:c.-2G>A;NM_001365605:c.-2844G>A;NM_001365597:c.-2G>A;NM_001365596:c.-2G>A,NA,NA,D,.,D,.,N,T
chr2,153576907,153576907,G,A,R010_S,ARL6IP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL6IP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153616356,153616356,C,T,R010_S,ARL6IP6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARL6IP6,NM_152522:c.*2C>T;NM_001350068:c.*2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158295476,158295476,C,T,R010_S,CYTIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158958684,158958684,C,T,R010_S,UPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,159514918,159514918,C,T,R010_S,PKP4-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PKP4-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160621211,160621211,C,T,R010_S,MARCHF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160637260,160637260,G,A,R010_S,CD302,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD302;LY75-CD302,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160654624,160654624,G,A,R010_S,CD302,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD302;LY75-CD302,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165801197,165801197,C,T,R010_S,SLC38A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,166755117,166755117,G,A,R010_S,TTC21B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC21B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,166894718,166894718,G,A,R010_S,SCN1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,172194081,172194081,C,T,R010_S,METTL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,173850117,173850117,C,T,R010_S,RAPGEF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,174946905,174946905,C,T,R010_S,OLA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179315784,179315784,G,A,R010_S,PRKRA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PRKRA,NM_001316362:c.-6579C>T;NM_003690:c.-27C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179419584,179419584,G,A,R010_S,TTN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TTN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179450093,179450093,G,A,R010_S,TTN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TTN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179484308,179484308,C,T,R010_S,TTN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TTN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179516565,179516565,G,A,R010_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179549215,179549215,G,A,R010_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179560170,179560170,C,T,R010_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179623903,179623903,C,T,R010_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179659323,179659323,C,T,R010_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,182322210,182322210,C,T,R010_S,ITGA4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ITGA4,NM_001316312:c.-172C>T;NM_000885:c.-172C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,183594694,183594694,G,A,R010_S,DNAJC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,183806915,183806915,G,A,R010_S,NCKAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,187608103,187608103,C,T,R010_S,FAM171B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM171B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,190575884,190575884,T,C,R010_S,ANKAR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKAR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,190606201,190606201,C,T,R010_S,ANKAR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKAR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,196935736,196935736,C,T,R010_S,DNAH7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,DNAH7;STK17B,dist=2175;dist=62571,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197105168,197105168,C,T,R010_S,HECW2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECW2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197208376,197208376,C,T,R010_S,HECW2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECW2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197650334,197650334,G,A,R010_S,GTF3C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197763002,197763002,G,A,R010_S,PGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197786859,197786859,C,T,R010_S,PGAP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PGAP1,NM_001321099:c.-9127G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197860066,197860066,C,T,R010_S,ANKRD44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198175479,198175479,C,T,R010_S,ANKRD44,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ANKRD44,NM_001367495:c.-151G>A;NM_001367497:c.-151G>A;NM_001195144:c.-151G>A;NM_001367496:c.-151G>A;NM_153697:c.-151G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198318446,198318446,G,A,R010_S,COQ10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ10B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201243122,201243122,G,A,R010_S,SPATS2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATS2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201994521,201994521,G,A,R010_S,CFLAR,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CFLAR,NM_001127184:c.-68G>A;NM_001202516:c.-68G>A;NM_003879:c.-68G>A;NM_001351590:c.-68G>A;NM_001308043:c.-68G>A;NM_001351591:c.-68G>A;NM_001351594:c.-3238G>A;NM_001127183:c.-68G>A;NM_001308042:c.-68G>A;NM_001351592:c.-68G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202688345,202688345,C,T,R010_S,CDK15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203079158,203079158,C,T,R010_S,SUMO1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SUMO1,NM_001371394:exon3:c.88-1G>A;NM_003352:exon3:c.88-1G>A;NM_001005782:exon2:c.13-1G>A;NM_001371392:exon3:c.85-1G>A;NM_001005781:exon3:c.88-1G>A;NM_001371393:exon3:c.88-1G>A,NA,NA,.,.,D,.,.,.
chr2,203155805,203155805,G,A,R010_S,NOP58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOP58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,204599727,204599727,G,A,R010_S,CD28,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CD28,NM_001243078:c.*92G>A;NM_001243077:c.*92G>A;NM_006139:c.*92G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207025470,207025470,C,T,R010_S,EEF1B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEF1B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,210761197,210761197,C,T,R010_S,UNC80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,211069454,211069454,C,T,R010_S,ACADL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACADL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,213886271,213886271,G,A,R010_S,IKZF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IKZF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219127344,219127344,C,T,R010_S,GPBAR1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GPBAR1,NM_001077191:c.-104C>T;NM_001077194:c.-104C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219222822,219222822,C,T,R010_S,CATIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219232346,219232346,G,A,R010_S,CATIP-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CATIP-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219612533,219612533,G,A,R010_S,TTLL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220041133,220041133,G,A,R010_S,CNPPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNPPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220046243,220046243,C,T,R010_S,RETREG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RETREG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220074596,220074596,G,A,R010_S,ABCB6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ABCB6,NM_005689:c.*64C>T;NM_001349828:c.*64C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220096605,220096605,G,A,R010_S,ANKZF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKZF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220162501,220162501,G,A,R010_S,PTPRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220197158,220197158,G,A,R010_S,RESP18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RESP18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220299603,220299603,C,T,R010_S,SPEG,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SPEG,NM_005876:c.-97C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220308017,220308017,C,T,R010_S,SPEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220338221,220338221,C,T,R010_S,SPEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220338431,220338431,C,T,R010_S,SPEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220415538,220415538,C,T,R010_S,OBSL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OBSL1,NM_015311:c.*19G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220480750,220480750,C,T,R010_S,STK11IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK11IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220502981,220502981,G,A,R010_S,SLC4A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,223536494,223536494,C,T,R010_S,MOGAT1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MOGAT1,NM_058165:c.-11C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,225449747,225449747,C,T,R010_S,CUL3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CUL3,NM_003590:c.-21G>A;NM_001257197:c.-21G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,225907198,225907198,C,T,R010_S,DOCK10,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DOCK10,dist=13,NA,NA,NA,NA,NA,NA,NA,NA
chr2,230678783,230678783,C,T,R010_S,TRIP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231327250,231327250,G,A,R010_S,SP100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231940308,231940308,C,T,R010_S,PSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231951758,231951758,G,A,R010_S,PSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231978644,231978644,C,T,R010_S,HTR2B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,HTR2B,NM_000867:exon3:c.353-1G>A;NM_001320758:exon3:c.227-1G>A,NA,NA,.,.,D,.,.,.
chr2,232262369,232262369,C,T,R010_S,B3GNT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B3GNT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,232320370,232320370,G,A,R010_S,NCL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,232378418,232378418,C,T,R010_S,LINC00471,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00471,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233394922,233394922,C,T,R010_S,CHRND,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRND,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233415340,233415340,C,T,R010_S,EIF4E2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EIF4E2,NM_001330201:c.-95C>T;NM_001276337:c.-95C>T;NM_001330203:c.-95C>T;NM_001276336:c.-95C>T;NM_001282958:c.-95C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234201845,234201845,G,A,R010_S,ATG16L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG16L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234703006,234703006,C,T,R010_S,MROH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MROH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238643780,238643780,C,T,R010_S,LRRFIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRFIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239161522,239161522,C,T,R010_S,PER2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PER2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239261777,239261777,C,T,R010_S,TRAF3IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAF3IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,240323898,240323898,G,A,R010_S,HDAC4-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HDAC4-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241079536,241079536,G,A,R010_S,OTOS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241556021,241556021,G,A,R010_S,GPR35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241706476,241706476,C,T,R010_S,KIF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241706632,241706632,C,T,R010_S,KIF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241711907,241711907,C,T,R010_S,KIF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242135386,242135386,G,A,R010_S,ANO7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANO7,NM_001001666:c.*54G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242157081,242157081,C,T,R010_S,ANO7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242432880,242432880,C,T,R010_S,STK25,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STK25,NM_006374:c.*2197G>A;NM_001271978:c.*2197G>A;NM_001271979:c.*2197G>A;NM_001271977:c.*2197G>A;NM_001271980:c.*2197G>A;NM_001282306:c.*2197G>A;NM_001282308:c.*2197G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242598683,242598683,G,A,R010_S,ATG4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG4B,NA,NA,NA,D,.,N,.,N,T
chr2,242609468,242609468,G,A,R010_S,ATG4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,3140042,3140042,G,A,R010_S,IL5RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL5RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,4706753,4706753,C,T,R010_S,ITPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,4753626,4753626,C,T,R010_S,ITPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,5021373,5021373,G,A,R010_S,BHLHE40-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BHLHE40-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,8669503,8669503,C,T,R010_S,SSUH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSUH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9416352,9416352,C,T,R010_S,THUMPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THUMPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9520347,9520347,G,A,R010_S,SETD5,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,SETD5,dist=509,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9520429,9520429,G,A,R010_S,SETD5,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,SETD5,dist=591,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9854582,9854582,C,T,R010_S,ARPC4-TTLL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARPC4-TTLL3;TTLL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9855035,9855035,G,A,R010_S,ARPC4-TTLL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARPC4-TTLL3;TTLL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9959498,9959498,C,T,R010_S,IL17RC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL17RC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10133996,10133996,G,A,R010_S,FANCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCD2;FANCD2OS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10857950,10857950,C,T,R010_S,SLC6A11,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC6A11,NM_014229:c.-1C>T;NM_001317406:c.-1C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12584742,12584742,G,A,R010_S,MKRN2OS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MKRN2OS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12778244,12778244,C,T,R010_S,TMEM40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12785492,12785492,C,T,R010_S,TMEM40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12875177,12875177,G,A,R010_S,CAND2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAND2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,13418884,13418884,C,T,R010_S,NUP210,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP210,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14166767,14166767,C,T,R010_S,TMEM43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14214338,14214338,C,T,R010_S,XPC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14563110,14563110,C,T,R010_S,GRIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14567138,14567138,G,A,R010_S,GRIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14974694,14974694,C,T,R010_S,FGD5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FGD5,NM_001320276:c.*20C>T;NM_152536:c.*20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,16638147,16638147,G,A,R010_S,DAZL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAZL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,19559445,19559445,G,A,R010_S,KCNH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,21792337,21792337,G,A,R010_S,ZNF385D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF385D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,23930874,23930874,C,T,R010_S,UBE2E1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2E1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,28368225,28368225,C,T,R010_S,AZI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AZI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,29530012,29530012,C,T,R010_S,RBMS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBMS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,29804529,29804529,C,T,R010_S,RBMS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBMS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,32493484,32493484,C,T,R010_S,CMTM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CMTM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33339294,33339294,C,T,R010_S,FBXL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33419510,33419510,C,T,R010_S,FBXL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33630349,33630349,C,T,R010_S,CLASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37034989,37034989,G,A,R010_S,MLH1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MLH1,NM_001354629:c.-50G>A;NM_001258274:c.-20980G>A;NM_001354628:c.-50G>A;NM_001354624:c.-32175G>A;NM_001354623:c.-26951G>A;NM_001354621:c.-26951G>A;NM_001354619:c.-20980G>A;NM_001354620:c.-7539G>A;NM_001354625:c.-32175G>A;NM_001354616:c.-20980G>A;NM_001354615:c.-20980G>A;NM_001167618:c.-20980G>A;NM_001167619:c.-20980G>A;NM_001354627:c.-32175G>A;NM_001354626:c.-32175G>A;NM_000249:c.-50G>A;NM_001258273:c.-20980G>A;NM_001354618:c.-20980G>A;NM_001258271:c.-50G>A;NM_001354622:c.-26951G>A;NM_001354630:c.-50G>A;NM_001167617:c.-7539G>A;NM_001354617:c.-20980G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37096040,37096040,G,A,R010_S,LRRFIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37544852,37544852,C,T,R010_S,ITGA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37953104,37953104,G,A,R010_S,CTDSPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTDSPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38316694,38316694,G,A,R010_S,SLC22A13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38629089,38629089,G,A,R010_S,SCN5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38674525,38674525,C,T,R010_S,SCN5A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SCN5A,NM_001354701:exon2:c.273+1G>A;NM_001160160:exon2:c.273+1G>A;NM_001160161:exon2:c.273+1G>A;NM_001099404:exon2:c.273+1G>A;NM_000335:exon2:c.273+1G>A;NM_001099405:exon2:c.273+1G>A;NM_198056:exon2:c.273+1G>A,NA,NA,.,.,D,.,.,.
chr3,38743306,38743306,C,T,R010_S,SCN10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39149240,39149240,G,A,R010_S,GORASP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GORASP1;TTC21A,NM_031899:c.-208C>T;NM_145755:c.-89G>A;NM_001105513:c.-89G>A;NM_001366899:c.-89G>A;NM_001366900:c.-89G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39184528,39184528,G,A,R010_S,CSRNP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CSRNP1,NM_001320559:c.*18C>T;NM_033027:c.*18C>T;NM_001320560:c.*18C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39449881,39449881,C,T,R010_S,RPSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,40351383,40351383,G,A,R010_S,EIF1B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EIF1B,NM_005875:c.-50G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42260951,42260951,G,A,R010_S,TRAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42265259,42265259,G,A,R010_S,TRAK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRAK1,NM_001349245:c.*30G>A;NM_001349247:c.*846G>A;NM_001349246:c.*30G>A;NM_001042646:c.*30G>A;NM_001349248:c.*30G>A;NM_001349249:c.*30G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44986868,44986868,G,A,R010_S,ZDHHC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45530149,45530149,C,T,R010_S,LARS2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LARS2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45707228,45707228,C,T,R010_S,LIMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45939158,45939158,C,T,R010_S,CCR9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCR9;LZTFL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46506410,46506410,C,T,R010_S,LTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46506473,46506473,C,T,R010_S,LTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46723107,46723107,G,A,R010_S,ALS2CL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALS2CL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46728420,46728420,C,T,R010_S,ALS2CL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALS2CL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46783870,46783870,G,A,R010_S,PRSS45P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRSS45P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47044623,47044623,G,A,R010_S,NBEAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBEAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47047394,47047394,G,A,R010_S,NBEAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBEAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47050167,47050167,C,T,R010_S,NBEAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBEAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47451384,47451384,G,A,R010_S,PTPN23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47891281,47891281,G,A,R010_S,DHX30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48200829,48200829,C,T,R010_S,CDC25A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC25A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48460572,48460572,C,T,R010_S,PLXNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48460813,48460813,C,T,R010_S,PLXNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48501109,48501109,C,T,R010_S,ATRIP-TREX1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ATRIP-TREX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48514998,48514998,C,T,R010_S,SHISA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHISA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48538754,48538754,C,T,R010_S,SHISA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHISA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48665491,48665491,G,A,R010_S,SLC26A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC26A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48788598,48788598,G,A,R010_S,PRKAR2A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRKAR2A,NM_004157:c.*420C>T;NM_001321983:c.*420C>T;NM_001321989:c.*420C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48831492,48831492,G,A,R010_S,PRKAR2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKAR2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49064530,49064530,G,A,R010_S,IMPDH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMPDH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49141739,49141739,G,A,R010_S,QARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49148894,49148894,C,T,R010_S,USP19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49168369,49168369,C,T,R010_S,LAMB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49738916,49738916,C,T,R010_S,RNF123,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF123,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49836161,49836161,T,C,R010_S,CDHR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49877622,49877622,C,T,R010_S,TRAIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49899445,49899445,C,T,R010_S,CAMKV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49933367,49933367,C,T,R010_S,MST1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MST1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49935143,49935143,G,A,R010_S,MST1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MST1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50211174,50211174,G,A,R010_S,SEMA3F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50214111,50214111,G,A,R010_S,SEMA3F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50232137,50232137,G,A,R010_S,GNAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50255023,50255023,G,A,R010_S,SLC38A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50386072,50386072,C,T,R010_S,NPRL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPRL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50407825,50407825,G,T,R010_S,CACNA2D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50413521,50413521,C,T,R010_S,CACNA2D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50598539,50598539,C,T,R010_S,C3orf18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3orf18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50608893,50608893,G,A,R010_S,HEMK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEMK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50617390,50617390,C,T,R010_S,HEMK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEMK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50617537,50617537,C,T,R010_S,HEMK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEMK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51375866,51375866,C,T,R010_S,DOCK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51752193,51752193,C,T,R010_S,GRM2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GRM2,NM_000839:c.*65C>T;NM_001349116:c.*65C>T;NM_001349117:c.*65C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51812608,51812608,G,A,R010_S,IQCF6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IQCF6,NM_001368369:c.*31C>T;NM_001143833:c.*31C>T;NM_001368368:c.*31C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51982277,51982277,C,T,R010_S,PARP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52019335,52019335,C,T,R010_S,ABHD14A-ACY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABHD14A-ACY1;ACY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52084765,52084765,C,T,R010_S,DUSP7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DUSP7,NM_001947:c.*66G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52097207,52097207,G,A,R010_S,LINC00696,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00696,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52262948,52262948,C,T,R010_S,TWF2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TWF2,NM_007284:c.*102G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52391798,52391798,G,A,R010_S,DNAH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52430834,52430834,G,A,R010_S,DNAH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52443841,52443841,C,T,R010_S,BAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52457384,52457384,C,T,R010_S,PHF7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PHF7,NM_016483:c.*51C>T;NM_001321126:c.*51C>T;NM_001278221:c.*51C>T;NM_001321127:c.*51C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52474917,52474917,C,T,R010_S,SEMA3G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52488069,52488069,C,T,R010_S,TNNC1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TNNC1,dist=12,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52488074,52488074,C,T,R010_S,TNNC1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TNNC1,dist=17,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52812183,52812183,C,T,R010_S,ITIH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52828913,52828913,G,A,R010_S,ITIH3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ITIH3,NM_002217:exon1:c.93+1G>A,NA,NA,.,.,D,.,.,.
chr3,53218823,53218823,C,T,R010_S,PRKCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53915935,53915935,C,T,R010_S,ACTR8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,54615695,54615695,G,A,R010_S,CACNA2D3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,54928428,54928428,G,A,R010_S,CACNA2D3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CACNA2D3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,54952466,54952466,C,T,R010_S,LRTM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRTM1,NM_001304389:c.*20G>A;NM_020678:c.*20G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,56044415,56044415,G,A,R010_S,ERC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,56657031,56657031,C,T,R010_S,TASOR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TASOR,NM_001365636:c.*34G>A;NM_001363940:c.*34G>A;NM_001112736:c.*785G>A;NM_001365635:c.*34G>A;NM_015224:c.*34G>A;NM_001365637:c.*785G>A;NM_001365638:c.*785G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58508376,58508376,G,A,R010_S,ACOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,75386303,75386303,C,T,R010_S,MIR4444-1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4444-1;FAM86DP,dist=122604;dist=84400,NA,NA,NA,NA,NA,NA,NA,NA
chr3,78708761,78708761,C,T,R010_S,ROBO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,97652477,97652477,G,A,R010_S,CRYBG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYBG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,98536567,98536567,C,T,R010_S,DCBLD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCBLD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,99985949,99985949,C,T,R010_S,TBC1D23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,101443513,101443513,C,T,R010_S,CEP97,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CEP97,NM_024548:c.-8C>T;NM_001303401:c.-8C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,101574337,101574337,C,T,R010_S,NFKBIZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFKBIZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111835960,111835960,G,A,R010_S,C3orf52,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C3orf52,NM_001171747:c.*115G>A;NM_024616:c.*467G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,112987110,112987110,C,T,R010_S,BOC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BOC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113184632,113184632,C,T,R010_S,SPICE1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SPICE1,NM_001331078:exon11:c.1156-1G>A;NM_144718:exon11:c.1156-1G>A;NM_001331079:exon11:c.1198-1G>A,NA,NA,.,.,D,.,.,.
chr3,113676735,113676735,C,T,R010_S,ZDHHC23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,114462376,114462376,C,T,R010_S,ZBTB20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119170150,119170150,C,T,R010_S,TMEM39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119246732,119246732,C,T,R010_S,CD80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119529064,119529064,G,A,R010_S,NR1I2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR1I2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121209271,121209271,G,A,R010_S,POLQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121303970,121303970,C,T,R010_S,ARGFX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARGFX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122176551,122176551,C,T,R010_S,KPNA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,123049901,123049901,G,A,R010_S,ADCY5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,123367968,123367968,C,T,R010_S,MYLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,123401018,123401018,G,A,R010_S,MYLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,123454124,123454124,C,T,R010_S,MYLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,124129238,124129238,G,A,R010_S,KALRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KALRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126751473,126751473,G,A,R010_S,PLXNA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127381174,127381174,C,T,R010_S,PODXL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PODXL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127391095,127391095,C,T,R010_S,PODXL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PODXL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127770658,127770658,C,T,R010_S,SEC61A1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SEC61A1,dist=622,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128077006,128077006,C,T,R010_S,EEFSEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEFSEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128880056,128880056,G,A,R010_S,ISY1-RAB43,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ISY1-RAB43,NM_001204890:c.-238C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128973633,128973633,C,T,R010_S,COPG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128975055,128975055,G,A,R010_S,COPG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128976192,128976192,G,A,R010_S,COPG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128987542,128987542,C,T,R010_S,COPG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,129302242,129302242,C,T,R010_S,PLXND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130142785,130142785,C,T,R010_S,COL6A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130735233,130735233,G,A,R010_S,ATP2C1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ATP2C1,NM_001199180:c.*142G>A;NM_001199182:c.*142G>A;NM_001001485:c.*200G>A;NM_001199183:c.*142G>A;NM_001199185:c.*200G>A;NM_001001487:c.*142G>A;NM_001001486:c.*142G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132440672,132440672,C,T,R010_S,NPHP3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,NPHP3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,133547482,133547482,C,T,R010_S,RAB6B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RAB6B,NM_016577:c.*150G>A;NM_001363953:c.*150G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,133748658,133748658,G,A,R010_S,SLCO2A1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLCO2A1,NM_005630:c.-12C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,134369931,134369931,G,A,R010_S,KY,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,KY,dist=67,NA,NA,NA,NA,NA,NA,NA,NA
chr3,135720316,135720316,C,T,R010_S,PPP2R3A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PPP2R3A,NM_002718:c.-25C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,137947730,137947730,G,A,R010_S,ARMC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138014835,138014835,G,A,R010_S,ARMC8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARMC8,NM_001267041:c.*101G>A;NM_001363941:c.*101G>A;NM_001363942:c.*101G>A;NM_015396:c.*101G>A;NM_001267042:c.*101G>A;NM_001282342:c.*101G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138034574,138034574,G,A,R010_S,NME9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138043704,138043704,C,T,R010_S,NME9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,140265272,140265272,C,T,R010_S,CLSTN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLSTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,140660820,140660820,G,A,R010_S,SLC25A36,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC25A36,NM_001104647:c.-77G>A;NM_018155:c.-77G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141461401,141461401,C,T,R010_S,RNF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142443663,142443663,C,T,R010_S,TRPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142540009,142540009,C,T,R010_S,PCOLCE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCOLCE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148744788,148744788,C,T,R010_S,GYG1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GYG1,NM_004130:c.*68C>T;NM_001184721:c.*10C>T;NM_001184720:c.*68C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148847429,148847429,G,A,R010_S,HPS3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HPS3,NM_001308258:c.-82G>A;NM_032383:c.-82G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150321117,150321117,C,T,R010_S,SELENOT,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SELENOT,NM_016275:c.-33C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150661581,150661581,G,A,R010_S,CLRN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLRN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151171098,151171098,C,T,R010_S,IGSF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,152175900,152175900,C,T,R010_S,MBNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,153974827,153974827,G,A,R010_S,ARHGEF26,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARHGEF26,NM_001251962:c.*1565G>A;NM_001251963:c.*1740G>A;NM_015595:c.*1565G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,156139512,156139512,G,A,R010_S,KCNAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,156181476,156181476,C,T,R010_S,KCNAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,158384347,158384347,G,A,R010_S,LXN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LXN,NM_020169:c.*88C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,158451687,158451687,C,T,R010_S,RARRES1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RARRES1;MFSD1,dist=1412;dist=68156,NA,NA,NA,NA,NA,NA,NA,NA
chr3,158539006,158539006,G,A,R010_S,MFSD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,159738406,159738406,C,T,R010_S,IL12A-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,IL12A-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160232623,160232623,G,A,R010_S,KPNA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160282917,160282917,C,T,R010_S,KPNA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,168804421,168804421,C,T,R010_S,MECOM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MECOM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169644274,169644274,G,A,R010_S,SAMD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170425930,170425930,G,A,R010_S,SLC7A14-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SLC7A14-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170858177,170858177,C,T,R010_S,TNIK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,171851220,171851220,G,A,R010_S,FNDC3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,178927506,178927506,G,A,R010_S,PIK3CA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179618567,179618567,C,T,R010_S,PEX5L-AS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PEX5L-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,180630420,180630420,C,T,R010_S,FXR1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,FXR1,dist=38,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183551474,183551474,C,T,R010_S,PARL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184008007,184008007,C,T,R010_S,ECE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECE2;EEF1AKMT4-ECE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184099654,184099654,G,A,R010_S,CHRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184144701,184144701,G,A,R010_S,LINC02054,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02054,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184157071,184157071,C,T,R010_S,LINC02054,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02054,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184291021,184291021,C,T,R010_S,EPHB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184293972,184293972,C,T,R010_S,EPHB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184402424,184402424,G,A,R010_S,EPHB3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,EPHB3;MAGEF1,dist=102228;dist=25728,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185769782,185769782,G,A,R010_S,ETV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185929575,185929575,G,A,R010_S,DGKG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186024601,186024601,G,A,R010_S,DGKG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186330804,186330804,C,T,R010_S,AHSG,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,AHSG,dist=45,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186974429,186974429,A,G,R010_S,MASP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MASP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,188406645,188406645,G,A,R010_S,MIR28,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,193386292,193386292,C,T,R010_S,OPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194157796,194157796,G,A,R010_S,ATP13A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194313677,194313677,G,A,R010_S,TMEM44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194343924,194343924,C,T,R010_S,TMEM44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM44,NA,NA,NA,.,.,N,.,.,.
chr3,195596522,195596522,G,A,R010_S,TNK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195608816,195608816,G,A,R010_S,TNK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195794270,195794270,C,T,R010_S,TFRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195941182,195941182,G,A,R010_S,ZDHHC19,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZDHHC19;SLC51A,dist=2911;dist=2223,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195950687,195950687,G,A,R010_S,SLC51A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC51A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196096206,196096206,G,A,R010_S,UBXN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBXN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197421546,197421546,G,A,R010_S,RUBCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUBCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197616351,197616351,C,T,R010_S,IQCG,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IQCG,NM_001134435:c.*100G>A;NM_001323027:c.*100G>A;NM_001323028:c.*100G>A;NM_001323029:c.*100G>A;NM_032263:c.*100G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,67701,67701,G,A,R010_S,ZNF595,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF595;ZNF718,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,680309,680309,G,A,R010_S,SLC49A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC49A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,859073,859073,C,T,R010_S,GAK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,941992,941992,G,A,R010_S,TMEM175,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TMEM175,NM_001297423:c.-2271G>A;NM_001297427:c.-3484G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,955442,955442,G,A,R010_S,DGKQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,981806,981806,G,A,R010_S,SLC26A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC26A1,NM_213613:c.*815C>T;NM_022042:c.*815C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,984853,984853,G,A,R010_S,IDUA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDUA;SLC26A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1006252,1006252,C,T,R010_S,FGFRL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FGFRL1,NM_021923:c.-22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1067296,1067296,G,A,R010_S,RNF212,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF212,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1388336,1388336,C,T,R010_S,UVSSA,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,UVSSA;NKX1-1,dist=6499;dist=8384,NA,NA,D,.,N,T,N,T
chr4,1816089,1816089,G,A,R010_S,LETM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LETM1,NM_012318:c.*62C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1994132,1994132,G,A,R010_S,NELFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NELFA,NA,NA,NA,.,.,N,.,.,.
chr4,2045580,2045580,C,T,R010_S,C4orf48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C4orf48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2986340,2986340,G,A,R010_S,GRK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3162120,3162120,G,A,R010_S,HTT,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,HTT,NM_002111:exon29:c.3864+1G>A,NA,NA,.,.,D,.,.,.
chr4,3498472,3498472,G,A,R010_S,DOK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,6087469,6087469,G,A,R010_S,JAKMIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAKMIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,6858873,6858873,C,T,R010_S,KIAA0232,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0232,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,6968980,6968980,G,A,R010_S,TBC1D14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,7817744,7817744,C,T,R010_S,AFAP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,AFAP1,NM_001134647:exon8:c.904+1G>A;NM_001371090:exon7:c.904+1G>A;NM_001371091:exon9:c.904+1G>A;NM_198595:exon8:c.904+1G>A,NA,NA,.,.,D,.,.,.
chr4,7870463,7870463,G,A,R010_S,AFAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,10117715,10117715,G,A,R010_S,WDR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,10586390,10586390,G,A,R010_S,CLNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,15009238,15009238,C,T,R010_S,LOC101929095,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929095,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,15589670,15589670,C,T,R010_S,CC2D2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CC2D2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,15629678,15629678,C,T,R010_S,FBXL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,15826648,15826648,C,T,R010_S,CD38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,16192785,16192785,G,A,R010_S,TAPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,17839476,17839476,C,T,R010_S,NCAPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555762,20555762,A,T,R010_S,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20597987,20597987,G,A,R010_S,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25125510,25125510,C,T,R010_S,SEPSECS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEPSECS,NM_016955:c.*43G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25865065,25865065,G,A,R010_S,SEL1L3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SEL1L3,NM_001297594:c.-15876C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,26675397,26675397,G,A,R010_S,TBC1D19,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TBC1D19,NM_001292054:exon8:c.509-1G>A;NM_018317:exon11:c.704-1G>A,NA,NA,.,.,D,.,.,.
chr4,36258163,36258163,G,A,R010_S,LOC439933,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC439933,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,37243659,37243659,G,A,R010_S,MIR4801,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4801,dist=46,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39206943,39206943,G,A,R010_S,WDR19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39457959,39457959,G,A,R010_S,RPL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,40440950,40440950,G,A,R010_S,RBM47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,41687938,41687938,G,A,R010_S,LIMCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIMCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42592770,42592770,C,T,R010_S,ATP8A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,44177297,44177297,G,A,R010_S,KCTD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCTD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48170535,48170535,C,T,R010_S,TEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48424169,48424169,G,A,R010_S,SLAIN2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLAIN2,NM_020846:c.*75G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55131303,55131303,G,A,R010_S,PDGFRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDGFRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55154869,55154869,G,A,R010_S,PDGFRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDGFRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55161585,55161585,C,T,R010_S,PDGFRA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PDGFRA,NM_001347828:c.*146C>T;NM_006206:c.*146C>T;NM_001347829:c.*146C>T;NM_001347830:c.*146C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57523859,57523859,G,A,R010_S,HOPX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOPX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68359778,68359778,C,T,R010_S,CENPC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,70723209,70723209,G,A,R010_S,SULT1E1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SULT1E1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71693472,71693472,G,A,R010_S,GRSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73433056,73433056,T,G,R010_S,ADAMTS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76924694,76924694,C,T,R010_S,LOC101928809,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928809,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77960100,77960100,G,A,R010_S,SEPTIN11,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,SEPTIN11,dist=332,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79342970,79342970,G,A,R010_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81958648,81958648,G,A,R010_S,BMP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83802916,83802916,G,A,R010_S,SEC31A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC31A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,84403437,84403437,G,A,R010_S,ABRAXAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABRAXAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,85504753,85504753,C,T,R010_S,CDS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,85598334,85598334,G,A,R010_S,WDFY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDFY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,87957890,87957890,C,T,R010_S,AFF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,88026921,88026921,C,T,R010_S,AFF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,88986810,88986810,C,T,R010_S,PKD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89028566,89028566,G,A,R010_S,ABCG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89597619,89597619,C,T,R010_S,HERC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89688780,89688780,A,T,R010_S,FAM13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89709199,89709199,C,T,R010_S,FAM13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100356264,100356264,C,T,R010_S,ADH7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ADH7,NM_001166504:c.-3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103518583,103518583,G,A,R010_S,NFKB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFKB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,104004228,104004228,C,T,R010_S,BDH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BDH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,104064662,104064662,C,T,R010_S,CENPE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,106111636,106111636,G,A,R010_S,TET2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TET2-AS1,NA,NA,NA,D,.,D,T,N,T
chr4,106816944,106816944,G,A,R010_S,NPNT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,108641254,108641254,C,T,R010_S,PAPSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,109673965,109673965,C,T,R010_S,ETNPPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETNPPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,110223298,110223298,G,A,R010_S,COL25A1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,COL25A1,NM_001256074:c.-123C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113199576,113199576,G,A,R010_S,TIFA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TIFA,NM_052864:c.-4C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113475819,113475819,C,T,R010_S,ZGRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZGRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113566707,113566707,G,A,R010_S,LARP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113571522,113571522,C,T,R010_S,LARP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114375603,114375603,G,A,R010_S,CAMK2D,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAMK2D,NM_001321583:c.*109C>T;NM_172128:c.*65C>T;NM_172127:c.*109C>T;NM_001321571:c.*98C>T;NM_001321567:c.*109C>T;NM_001221:c.*98C>T;NM_001321581:c.*65C>T;NM_001321576:c.*65C>T;NM_001321575:c.*65C>T;NM_001321566:c.*98C>T;NM_001321573:c.*98C>T;NM_001321572:c.*65C>T;NM_001321574:c.*98C>T;NM_001321580:c.*98C>T;NM_001321582:c.*65C>T;NM_001321588:c.*98C>T;NM_001321578:c.*65C>T;NM_001321577:c.*65C>T;NM_001321579:c.*109C>T;NM_001321585:c.*65C>T;NM_001321584:c.*65C>T;NM_001321568:c.*65C>T;NM_001321570:c.*65C>T;NM_001321569:c.*98C>T;NM_001321587:c.*65C>T;NM_001321586:c.*65C>T;NM_001321591:c.*109C>T;NM_001321590:c.*65C>T;NM_001321589:c.*109C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120107406,120107406,C,T,R010_S,MYOZ2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYOZ2,NM_016599:c.*51C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120315687,120315687,G,A,R010_S,FABP2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FABP2;LINC01061,dist=72394;dist=10991,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120481554,120481554,G,A,R010_S,PDE5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,122687275,122687275,C,T,R010_S,PP12613,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PP12613,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,122741620,122741620,G,A,R010_S,CCNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,122846112,122846112,G,A,R010_S,TRPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,128703931,128703931,G,A,R010_S,HSPA4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPA4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,141372707,141372707,C,T,R010_S,MGAT4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAT4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,141622601,141622601,G,A,R010_S,TBC1D9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,141869046,141869046,C,T,R010_S,RNF150,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF150,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,147752945,147752945,C,T,R010_S,TTC29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,148787761,148787761,G,A,R010_S,ARHGAP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,151749814,151749814,G,A,R010_S,LRBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,152021613,152021613,C,T,R010_S,RPS3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,154091336,154091336,G,A,R010_S,TRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,156680907,156680907,C,T,R010_S,GUCY1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,159956184,159956184,C,T,R010_S,C4orf45,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,C4orf45,NM_152543:exon1:c.64+1G>A,NA,NA,.,.,D,.,.,.
chr4,164415794,164415794,G,A,R010_S,TMA16,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TMA16,dist=48,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166103770,166103770,C,T,R010_S,TMEM192,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TMEM192;KLHL2,dist=69758;dist=24943,NA,NA,NA,NA,NA,NA,NA,NA
chr4,176891987,176891987,G,A,R010_S,GPM6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPM6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,183837817,183837817,G,A,R010_S,DCTD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCTD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,187078982,187078982,C,T,R010_S,FAM149A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM149A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904341,190904341,G,A,R010_S,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=19995;dist=41165,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904395,190904395,T,C,R010_S,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20049;dist=41111,NA,NA,NA,NA,NA,NA,NA,NA
chr5,144806,144806,G,A,R010_S,PLEKHG4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,733803,733803,C,T,R010_S,ZDHHC11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1083779,1083779,C,T,R010_S,SLC12A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1324770,1324770,C,T,R010_S,CLPTM1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLPTM1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4404211,4404211,T,C,R010_S,IRX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IRX1;LINC02114,dist=802694;dist=369383,NA,NA,NA,NA,NA,NA,NA,NA
chr5,5239263,5239263,G,A,R010_S,ADAMTS16,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ADAMTS16,NM_139056:exon15:c.2155-1G>A,NA,NA,.,.,D,.,.,.
chr5,5437291,5437291,G,A,R010_S,ICE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ICE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,6378625,6378625,C,T,R010_S,MED10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MED10,NM_032286:c.-29G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,7717240,7717240,C,T,R010_S,ADCY2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,7816933,7816933,G,A,R010_S,ADCY2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10379035,10379035,G,A,R010_S,MARCHF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14287217,14287217,G,A,R010_S,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14378252,14378252,G,A,R010_S,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14390524,14390524,G,A,R010_S,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,15500755,15500755,C,T,R010_S,FBXL7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FBXL7,NM_012304:c.-31C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,24505391,24505391,G,A,R010_S,CDH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,31424474,31424474,G,A,R010_S,DROSHA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DROSHA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32057855,32057855,C,T,R010_S,PDZD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDZD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32789968,32789968,C,T,R010_S,NPR3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NPR3,NM_001364458:c.*3517C>T;NM_001204376:c.*3517C>T;NM_001363652:c.*3517C>T;NM_001364460:c.*3517C>T;NM_001204375:c.*3517C>T;NM_000908:c.*3517C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34182787,34182787,C,T,R010_S,C1QTNF3-AMACR,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,C1QTNF3-AMACR;LOC646652,dist=58154;dist=6899,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34686887,34686887,C,T,R010_S,RAI14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAI14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35004068,35004068,C,T,R010_S,AGXT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGXT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35649611,35649611,G,A,R010_S,SPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35788794,35788794,C,T,R010_S,SPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35800066,35800066,G,A,R010_S,SPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36181882,36181882,G,A,R010_S,SKP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36226739,36226739,G,A,R010_S,NADK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NADK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38445683,38445683,G,A,R010_S,EGFLAM,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EGFLAM,NM_182801:c.-5762G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,39381551,39381551,C,T,R010_S,DAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,39382675,39382675,C,A,R010_S,DAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,39382676,39382676,C,A,R010_S,DAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,41928776,41928776,G,A,R010_S,FBXO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,42646394,42646394,C,T,R010_S,GHR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GHR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,52366126,52366126,C,T,R010_S,ITGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54468391,54468391,G,A,R010_S,CDC20B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC20B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54522616,54522616,C,T,R010_S,MCIDAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCIDAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54929801,54929801,C,T,R010_S,SLC38A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,58297962,58297962,C,T,R010_S,PDE4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,58999471,58999471,C,T,R010_S,MIR582,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR582,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,58999579,58999579,G,A,R010_S,PDE4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,60195425,60195425,G,A,R010_S,ERCC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,60982807,60982807,G,A,R010_S,C5orf64,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C5orf64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,63256174,63256174,G,A,R010_S,HTR1A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HTR1A,NM_000524:c.*104C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,65077076,65077076,G,A,R010_S,NLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,66282348,66282348,C,T,R010_S,MAST4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAST4,NM_001290228:c.*34C>T;NM_198828:c.*34C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70858723,70858723,G,A,R010_S,BDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,71014986,71014986,C,T,R010_S,CARTPT,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CARTPT,dist=116,NA,NA,NA,NA,NA,NA,NA,NA
chr5,71412317,71412317,C,T,R010_S,MAP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72354255,72354255,G,A,R010_S,FCHO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCHO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72798481,72798481,C,T,R010_S,BTF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72849160,72849160,G,A,R010_S,ANKRA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,73166108,73166108,G,T,R010_S,ARHGEF28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76916191,76916191,C,T,R010_S,WDR41,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,WDR41;OTP,dist=128050;dist=8346,NA,NA,NA,NA,NA,NA,NA,NA
chr5,78281169,78281169,C,T,R010_S,ARSB,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ARSB,NM_198709:c.-98G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,78407782,78407782,C,T,R010_S,BHMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BHMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,78693271,78693271,C,T,R010_S,HOMER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOMER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80546843,80546843,G,A,R010_S,CKMT2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CKMT2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,88044789,88044789,C,T,R010_S,MEF2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEF2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,90052503,90052503,G,A,R010_S,ADGRV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,90671050,90671050,G,A,R010_S,ARRDC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARRDC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94856356,94856356,T,C,R010_S,TTC37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,96251391,96251391,G,A,R010_S,ERAP2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ERAP2,NM_001329229:exon17:c.2523-1G>A;NM_022350:exon18:c.2658-1G>A;NM_001130140:exon18:c.2658-1G>A,NA,NA,.,.,D,.,.,.
chr5,96328689,96328689,C,T,R010_S,LNPEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LNPEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,109668514,109668514,C,T,R010_S,LINC01848,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01848;TMEM232,dist=447910;dist=86683,NA,NA,NA,NA,NA,NA,NA,NA
chr5,110407586,110407586,C,T,R010_S,TSLP,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TSLP,NM_033035:c.-3C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112256843,112256843,C,T,R010_S,REEP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REEP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112629958,112629958,G,A,R010_S,MCC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112870105,112870105,G,A,R010_S,YTHDC2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,YTHDC2,NM_001345976:exon4:c.45+1G>A;NM_001345975:exon5:c.459+1G>A;NM_022828:exon6:c.945+1G>A,NA,NA,.,.,D,.,.,.
chr5,115193948,115193948,G,A,R010_S,AP3S1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3S1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,118531938,118531938,A,G,R010_S,DMXL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMXL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,118580321,118580321,C,T,R010_S,DMXL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMXL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122738910,122738910,C,T,R010_S,CEP120,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP120,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122748028,122748028,C,T,R010_S,CEP120,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP120,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127488376,127488376,C,T,R010_S,SLC12A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131630923,131630923,G,A,R010_S,SLC22A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A4,NA,NA,NA,D,.,N,.,N,T
chr5,131821250,131821250,C,T,R010_S,IRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131823593,131823593,C,T,R010_S,IRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131892515,131892515,C,T,R010_S,RAD50,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RAD50,dist=154,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132209641,132209641,G,A,R010_S,LEAP2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LEAP2,NM_052971:exon2:c.58-1G>A,NA,NA,.,.,D,.,.,.
chr5,133536775,133536775,G,A,R010_S,PPP2CA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2CA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,134002753,134002753,C,T,R010_S,SEC24A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC24A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,134028348,134028348,G,A,R010_S,SEC24A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SEC24A,NM_021982:exon12:c.1779+1G>A;NM_001252231:exon12:c.1779+1G>A,NA,NA,.,.,D,.,.,.
chr5,135170865,135170865,C,T,R010_S,SLC25A48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,135231351,135231351,G,A,R010_S,IL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,135276312,135276312,C,T,R010_S,FBXL21P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FBXL21P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,135364879,135364879,G,A,R010_S,TGFBI,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TGFBI,NM_000358:exon1:c.134+1G>A,NA,NA,.,.,D,.,.,.
chr5,137257478,137257478,C,T,R010_S,PKD2L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD2L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137506144,137506144,C,T,R010_S,BRD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,138463745,138463745,G,A,R010_S,SIL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,138758361,138758361,C,T,R010_S,DNAJC18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140070538,140070538,G,A,R010_S,HARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140908550,140908550,G,A,R010_S,DIAPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIAPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141009408,141009408,C,T,R010_S,HDAC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141014332,141014332,C,T,R010_S,HDAC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141234015,141234015,C,T,R010_S,PCDH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141331181,141331181,C,T,R010_S,PCDH12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDH12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147513554,147513554,G,A,R010_S,SPINK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPINK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149247406,149247406,C,T,R010_S,PDE6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149265818,149265818,G,A,R010_S,PDE6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149778628,149778628,G,A,R010_S,TCOF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TCOF1,NM_001135243:c.*17G>A;NM_000356:c.*17G>A;NM_001135244:c.*17G>A;NM_001195141:c.*17G>A;NM_001135245:c.*17G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149915168,149915168,C,T,R010_S,NDST1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDST1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150497433,150497433,G,A,R010_S,ANXA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150932704,150932704,G,A,R010_S,FAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,153406672,153406672,G,A,R010_S,FAM114A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM114A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,153735614,153735614,G,A,R010_S,GALNT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,153826152,153826152,C,T,R010_S,SAP30L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SAP30L,NM_024632:c.-13C>T;NM_001131062:c.-13C>T;NM_001131063:c.-13C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156787221,156787221,C,T,R010_S,CYFIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,159680926,159680926,C,T,R010_S,CCNJL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNJL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167524956,167524956,G,A,R010_S,TENM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,168093842,168093842,C,T,R010_S,SLIT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,168678319,168678319,G,A,R010_S,SLIT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169139054,169139054,G,A,R010_S,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169144342,169144342,G,A,R010_S,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169188676,169188676,C,T,R010_S,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169503116,169503116,G,A,R010_S,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,170847410,170847410,G,A,R010_S,FGF18,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FGF18,NM_003862:exon2:c.33-1G>A,NA,NA,.,.,D,.,.,.
chr5,170883838,170883838,C,T,R010_S,FGF18,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FGF18,NM_003862:c.*29C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,172333184,172333184,G,A,R010_S,ERGIC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERGIC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,172507684,172507684,C,T,R010_S,CREBRF,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CREBRF,NM_153607:c.-95C>T;NM_001168394:c.-95C>T;NM_001168393:c.-95C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,175779833,175779833,G,A,R010_S,KIAA1191,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1191,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,175813966,175813966,G,A,R010_S,NOP16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOP16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176016236,176016236,C,T,R010_S,CDHR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176016473,176016473,C,T,R010_S,CDHR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176018518,176018518,G,A,R010_S,CDHR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176069645,176069645,C,T,R010_S,EIF4E1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4E1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176072120,176072120,C,T,R010_S,EIF4E1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4E1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176308620,176308620,C,T,R010_S,HK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176311004,176311004,C,T,R010_S,HK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176518670,176518670,C,T,R010_S,FGFR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGFR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176798305,176798305,G,A,R010_S,RGS14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177633932,177633932,G,A,R010_S,HNRNPAB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPAB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178950554,178950554,G,A,R010_S,ADAMTS2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAMTS2;RUFY1,dist=178092;dist=27001,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179125964,179125964,C,T,R010_S,CANX,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CANX,NM_001363999:c.-6719C>T;NM_001363995:c.-6719C>T;NM_001364000:c.-9296C>T;NM_001363998:c.-6719C>T;NM_001363997:c.-6719C>T;NM_001364001:c.-9296C>T;NM_001363993:c.-649C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179260016,179260016,C,T,R010_S,SQSTM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SQSTM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179442310,179442310,C,T,R010_S,MIR340,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR340,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179665290,179665290,G,A,R010_S,MAPK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179674850,179674850,G,A,R010_S,MAPK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180048287,180048287,C,T,R010_S,FLT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,348394,348394,G,A,R010_S,DUSP22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUSP22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,2678416,2678416,C,T,R010_S,MYLK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYLK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,2685697,2685697,C,T,R010_S,MYLK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYLK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,2895601,2895601,G,A,R010_S,LOC101927730,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927730,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,3226679,3226679,G,A,R010_S,TUBB2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBB2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,3290250,3290250,G,A,R010_S,SLC22A23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,4125616,4125616,G,A,R010_S,C6orf201,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C6orf201;ECI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,6320771,6320771,G,A,R010_S,F13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,6321204,6321204,C,T,R010_S,F13A1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,F13A1,dist=280,NA,NA,NA,NA,NA,NA,NA,NA
chr6,9939400,9939400,G,A,R010_S,LOC100506207,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100506207;TFAP2A,dist=1153722;dist=457510,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10705131,10705131,G,A,R010_S,PAK1IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAK1IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10955464,10955464,C,T,R010_S,SYCP2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10990080,10990080,G,A,R010_S,ELOVL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELOVL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,12165238,12165238,G,A,R010_S,HIVEP1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HIVEP1,dist=6,NA,NA,NA,NA,NA,NA,NA,NA
chr6,12934164,12934164,G,A,R010_S,PHACTR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHACTR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13618253,13618253,G,A,R010_S,NOL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,15508447,15508447,C,T,R010_S,JARID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JARID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17987275,17987275,C,T,R010_S,KIF13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,25108975,25108975,G,A,R010_S,CMAHP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CMAHP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,25868717,25868717,C,T,R010_S,SLC17A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,25969718,25969718,G,A,R010_S,TRIM38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26021160,26021160,G,A,R010_S,HIST1H3A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HIST1H3A,NM_003529:c.*32G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26376896,26376896,C,T,R010_S,BTN3A2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BTN3A2,NM_001197248:c.*906C>T;NM_001197249:c.*906C>T;NM_007047:c.*906C>T;NM_001197247:c.*1188C>T;NM_001197246:c.*174C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27776400,27776400,G,A,R010_S,HIST1H2AI,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HIST1H2AI,NM_003509:c.*20G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,28134845,28134845,C,T,R010_S,ZNF192P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ZNF192P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33554530,33554530,G,A,R010_S,GGNBP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GGNBP1;LINC00336,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33627221,33627221,G,A,R010_S,ITPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33630861,33630861,C,T,R010_S,ITPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33650246,33650246,G,A,R010_S,ITPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33655964,33655964,G,A,R010_S,ITPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,34263635,34263635,C,T,R010_S,NUDT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDT3;RPS10-NUDT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35108799,35108799,G,A,R010_S,TCP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35203315,35203315,G,A,R010_S,SCUBE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCUBE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35261699,35261699,C,T,R010_S,ZNF76,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF76,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36294901,36294901,C,T,R010_S,BNIP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36564803,36564803,C,T,R010_S,SRSF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRSF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36724189,36724189,G,A,R010_S,CPNE5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36759783,36759783,C,T,R010_S,CPNE5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36789707,36789707,C,T,R010_S,CPNE5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,37467644,37467644,C,T,R010_S,CCDC167,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCDC167,NM_138493:c.-5G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,38705876,38705876,C,T,R010_S,DNAH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,39304358,39304358,G,A,R010_S,KIF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,39839390,39839390,G,A,R010_S,DAAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41751174,41751174,G,A,R010_S,PRICKLE4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRICKLE4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41908779,41908779,C,T,R010_S,CCND3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCND3,NM_001287427:c.-42G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42619852,42619852,C,T,R010_S,UBR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42824982,42824982,G,A,R010_S,BICRAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BICRAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42988538,42988538,C,T,R010_S,KLHDC3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KLHDC3,NM_057161:c.*67C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43153166,43153166,G,A,R010_S,CUL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43237547,43237547,C,T,R010_S,TTBK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTBK1,NA,NA,NA,.,.,D,.,.,.
chr6,43273508,43273508,C,T,R010_S,CRIP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CRIP3,NM_001366068:c.*44G>A;NM_206922:c.*44G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43422140,43422140,G,A,R010_S,DLK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43484836,43484836,G,A,R010_S,POLR1C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,POLR1C,NM_001318876:c.-12G>A;NM_001363658:c.-12G>A;NM_203290:c.-12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43491560,43491560,G,A,R010_S,XPO5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,XPO5,NM_020750:c.*46C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44121767,44121767,C,T,R010_S,TMEM63B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM63B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44147346,44147346,C,T,R010_S,CAPN11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44148328,44148328,C,T,R010_S,CAPN11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44197543,44197543,C,T,R010_S,SLC29A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC29A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44222215,44222215,G,A,R010_S,SLC35B2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC35B2,NM_001286520:c.*228C>T;NM_178148:c.*228C>T;NM_001286509:c.*228C>T;NM_001286517:c.*228C>T;NM_001286510:c.*228C>T;NM_001286512:c.*228C>T;NM_001286513:c.*228C>T;NM_001286519:c.*228C>T;NM_001286511:c.*228C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,46620781,46620781,G,A,R010_S,SLC25A27,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC25A27,NM_001204052:c.-149G>A;NM_001204051:c.-149G>A;NM_004277:c.-149G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,46690462,46690462,C,T,R010_S,PLA2G7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47541759,47541759,G,A,R010_S,CD2AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD2AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,52858814,52858814,G,A,R010_S,GSTA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,52935960,52935960,G,A,R010_S,FBXO9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55935661,55935661,G,A,R010_S,COL21A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL21A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56879229,56879229,C,T,R010_S,BEND6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BEND6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70647929,70647929,G,A,R010_S,COL19A1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,COL19A1,NM_001858:exon9:c.874-1G>A,NA,NA,.,.,D,.,.,.
chr6,70963171,70963171,C,T,R010_S,COL9A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70979174,70979174,C,T,R010_S,COL9A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,80406173,80406173,G,A,R010_S,SH3BGRL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3BGRL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,80837346,80837346,C,T,R010_S,BCKDHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCKDHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,80982969,80982969,C,T,R010_S,BCKDHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCKDHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,82935365,82935365,C,T,R010_S,IBTK,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,IBTK,NM_015525:exon6:c.655-1G>A;NM_001300906:exon6:c.655-1G>A,NA,NA,.,.,D,.,.,.
chr6,83869489,83869489,C,T,R010_S,DOP1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOP1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84285715,84285715,G,A,R010_S,SNAP91,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNAP91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84619843,84619843,G,A,R010_S,CYB5R4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYB5R4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,86215517,86215517,C,T,R010_S,SNX14,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNX14,NM_153816:c.*168G>A;NM_001350533:c.*168G>A;NM_001350539:c.*168G>A;NM_001350537:c.*168G>A;NM_001350547:c.*168G>A;NM_001350548:c.*168G>A;NM_001350550:c.*168G>A;NM_001350549:c.*168G>A;NM_001350551:c.*168G>A;NM_001350553:c.*168G>A;NM_001350552:c.*168G>A;NM_001350545:c.*168G>A;NM_001350546:c.*168G>A;NM_001350542:c.*168G>A;NM_001350536:c.*168G>A;NM_001350535:c.*168G>A;NM_001350532:c.*168G>A;NM_001297614:c.*168G>A;NM_001304479:c.*168G>A;NM_001350538:c.*168G>A;NM_020468:c.*168G>A;NM_001350534:c.*168G>A;NM_001350540:c.*168G>A;NM_001350544:c.*168G>A;NM_001350543:c.*168G>A;NM_001350541:c.*168G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88174079,88174079,G,A,R010_S,CFAP206,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CFAP206,NM_001031743:c.*111G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88366722,88366722,C,T,R010_S,ORC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,91233562,91233562,G,A,R010_S,MAP3K7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,101338199,101338199,C,T,R010_S,ASCC3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ASCC3;GRIK2,dist=8951;dist=508662,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105228184,105228184,C,T,R010_S,HACE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HACE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,107069491,107069491,C,T,R010_S,RTN4IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTN4IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,107780506,107780506,G,A,R010_S,PDSS2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PDSS2,NM_020381:c.-17C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,108067852,108067852,G,A,R010_S,SCML4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCML4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,108543493,108543493,C,T,R010_S,SNX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109627157,109627157,G,A,R010_S,CCDC162P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCDC162P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109764704,109764704,C,T,R010_S,SMPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109828011,109828011,G,A,R010_S,AK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109884921,109884921,G,A,R010_S,AK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109996993,109996993,C,T,R010_S,AK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,112457567,112457567,G,A,R010_S,LAMA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,112501199,112501199,G,A,R010_S,LAMA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117043271,117043271,C,T,R010_S,KPNA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123542631,123542631,C,T,R010_S,TRDN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TRDN,NM_006073:exon40:c.2050+1G>A,NA,NA,.,.,D,.,.,.
chr6,129807768,129807768,G,A,R010_S,LAMA2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LAMA2,NM_001079823:exon55:c.7886+1G>A;NM_000426:exon56:c.7898+1G>A,NA,NA,.,.,D,.,.,.
chr6,132206057,132206057,C,T,R010_S,ENPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135515721,135515721,C,T,R010_S,MYB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135819101,135819101,G,A,R010_S,LINC00271,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00271,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136590304,136590304,C,T,R010_S,BCLAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCLAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,143780435,143780435,G,A,R010_S,PEX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,146351422,146351422,C,A,R010_S,GRM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,146351423,146351423,A,T,R010_S,GRM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,149773703,149773703,C,T,R010_S,ZC3H12D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H12D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,149780802,149780802,C,T,R010_S,ZC3H12D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3H12D,NA,NA,NA,T,.,N,T,N,T
chr6,151265772,151265772,G,A,R010_S,MTHFD1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTHFD1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,157505723,157505723,C,T,R010_S,ARID1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,158487756,158487756,G,A,R010_S,SYNJ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNJ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161469237,161469237,C,T,R010_S,MAP3K4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,163836849,163836849,G,A,R010_S,QKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,166827269,166827269,C,T,R010_S,RPS6KA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,803643,803643,C,T,R010_S,DNAAF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAAF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,916438,916438,G,A,R010_S,GET4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GET4,NM_015949:exon1:c.155+1G>A,NA,NA,.,.,D,.,.,.
chr7,1028527,1028527,C,T,R010_S,CYP2W1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYP2W1,NM_017781:c.*69C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1473999,1473999,G,A,R010_S,MICALL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MICALL2,NM_182924:c.*233C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1477523,1477523,C,T,R010_S,MICALL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICALL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1526800,1526800,C,T,R010_S,INTS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1538550,1538550,G,A,R010_S,INTS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1733259,1733259,G,A,R010_S,ELFN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELFN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2292701,2292701,C,T,R010_S,SNX8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNX8,NM_013321:c.*1990G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2473534,2473534,C,T,R010_S,CHST12,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CHST12,NM_018641:c.*15C>T;NM_001243795:c.*15C>T;NM_001243794:c.*15C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2517183,2517183,C,T,R010_S,GRIFIN,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GRIFIN;LFNG,dist=1166;dist=34980,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2579290,2579290,G,A,R010_S,BRAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2583636,2583636,G,A,R010_S,BRAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2606690,2606690,G,A,R010_S,IQCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2627371,2627371,G,A,R010_S,IQCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2696186,2696186,G,A,R010_S,TTYH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTYH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2962483,2962483,C,T,R010_S,CARD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2963788,2963788,C,T,R010_S,CARD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4185631,4185631,C,T,R010_S,SDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4285532,4285532,C,T,R010_S,SDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4804063,4804063,G,A,R010_S,FOXK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FOXK1,NM_001037165:c.*1968G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4815394,4815394,G,A,R010_S,AP5Z1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP5Z1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4828263,4828263,G,A,R010_S,MIR4656,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4656,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5036128,5036128,G,A,R010_S,RNF216P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RNF216P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5265611,5265611,C,T,R010_S,WIPI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WIPI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5460095,5460095,C,T,R010_S,TNRC18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNRC18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5528756,5528756,C,T,R010_S,FBXL18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5535674,5535674,C,T,R010_S,FBXL18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6063810,6063810,G,A,R010_S,EIF2AK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EIF2AK1,NM_014413:c.*494C>T;NM_001134335:c.*494C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6183876,6183876,C,T,R010_S,USP42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6226665,6226665,G,A,R010_S,CYTH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6655742,6655742,G,A,R010_S,ZNF853,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF853,NM_017560:c.-64G>A;NM_001353546:c.-1112G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,7410326,7410326,G,A,R010_S,COL28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,7476122,7476122,G,A,R010_S,COL28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,7530337,7530337,G,A,R010_S,COL28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,7550645,7550645,G,A,R010_S,COL28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,11142166,11142166,G,A,R010_S,PHF14,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PHF14,NM_014660:c.*41G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,14025983,14025983,G,A,R010_S,ETV1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ETV1,NM_001163150:c.-182C>T;NM_001163151:c.-182C>T;NM_001163152:c.-182C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,16566736,16566736,C,T,R010_S,LRRC72,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC72,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,16685100,16685100,G,A,R010_S,ANKMY2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKMY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21598627,21598627,G,A,R010_S,DNAH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21627863,21627863,G,A,R010_S,DNAH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21646215,21646215,G,A,R010_S,DNAH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22896428,22896428,G,A,R010_S,SNHG26,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23509808,23509808,G,A,R010_S,IGF2BP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,IGF2BP3,NM_006547:c.-79C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,24738940,24738940,G,A,R010_S,GSDME,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSDME,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,24849571,24849571,C,T,R010_S,OSBPL3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,OSBPL3,NM_145322:exon17:c.1972-1G>A;NM_145321:exon18:c.2065-1G>A;NM_145320:exon18:c.2080-1G>A;NM_015550:exon20:c.2173-1G>A,NA,NA,.,.,D,.,.,.
chr7,24910282,24910282,C,T,R010_S,OSBPL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBPL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,25264569,25264569,C,T,R010_S,NPVF,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NPVF,NM_022150:c.*172G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27168768,27168768,G,A,R010_S,HOXA4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HOXA4,NM_002141:c.*76C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27566019,27566019,C,T,R010_S,HIBADH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIBADH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27582734,27582734,G,A,R010_S,HIBADH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIBADH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,28449976,28449976,C,T,R010_S,CREB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CREB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,29152313,29152313,C,T,R010_S,CPVL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPVL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30054207,30054207,G,A,R010_S,FKBP14,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FKBP14,NM_017946:c.*144C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30363354,30363354,G,A,R010_S,ZNRF2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZNRF2,NM_147128:exon2:c.565+1G>A,NA,NA,.,.,D,.,.,.
chr7,30642845,30642845,G,A,R010_S,GARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30655392,30655392,G,A,R010_S,GARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30665721,30665721,C,T,R010_S,GARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,31009465,31009465,T,C,R010_S,GHRHR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GHRHR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,31144535,31144535,G,A,R010_S,ADCYAP1R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCYAP1R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,31848792,31848792,C,T,R010_S,PDE1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,34006268,34006268,G,A,R010_S,BMPER,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMPER,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,34977569,34977569,C,T,R010_S,DPY19L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPY19L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38315831,38315831,G,A,R010_S,TARP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TARP;TRG-AS1,dist=2583;dist=65347,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38460781,38460781,G,A,R010_S,AMPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38725137,38725137,G,A,R010_S,FAM183BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FAM183BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,39412960,39412960,G,A,R010_S,POU6F2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POU6F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,39446342,39446342,G,A,R010_S,POU6F2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POU6F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,39736977,39736977,C,T,R010_S,RALA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,40027942,40027942,C,T,R010_S,CDK13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,42007099,42007099,G,A,R010_S,GLI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43351352,43351352,G,A,R010_S,HECW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43508726,43508726,G,A,R010_S,HECW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43590021,43590021,C,T,R010_S,HECW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43659167,43659167,G,A,R010_S,STK17A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK17A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43992883,43992883,G,A,R010_S,POLR2J4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,POLR2J4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44145691,44145691,C,T,R010_S,AEBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AEBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44244331,44244331,C,T,R010_S,YKT6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YKT6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44507646,44507646,G,A,R010_S,NUDCD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDCD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44605549,44605549,G,A,R010_S,DDX56,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DDX56,NM_001257189:c.*52C>T;NM_019082:c.*52C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44713997,44713997,G,A,R010_S,OGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44736904,44736904,G,A,R010_S,OGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44921479,44921479,G,A,R010_S,PURB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PURB,NM_033224:c.*2530C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45011461,45011461,C,T,R010_S,MYO1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45015264,45015264,G,A,R010_S,MYO1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45110194,45110194,C,T,R010_S,CCM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45750277,45750277,G,A,R010_S,ADCY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45960855,45960855,C,T,R010_S,IGFBP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,IGFBP3,NM_000598:c.-116G>A;NM_001013398:c.-116G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47336665,47336665,G,A,R010_S,TNS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48259134,48259134,C,T,R010_S,ABCA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48520820,48520820,C,T,R010_S,ABCA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50544519,50544519,G,A,R010_S,DDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50663232,50663232,G,A,R010_S,GRB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,54612169,54612169,G,A,R010_S,VSTM2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,54614838,54614838,G,A,R010_S,VSTM2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,54826755,54826755,G,A,R010_S,SEC61G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC61G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,55272939,55272939,C,T,R010_S,EGFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EGFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,55606123,55606123,C,T,R010_S,VOPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VOPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,57522911,57522911,G,A,R010_S,ZNF716,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF716,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,65548016,65548016,G,A,R010_S,ASL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,65842714,65842714,C,T,R010_S,LINC00174,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00174,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,70236640,70236640,C,T,R010_S,AUTS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AUTS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,70256017,70256017,C,T,R010_S,AUTS2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AUTS2,NM_001127231:c.*35C>T;NM_015570:c.*35C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72302150,72302150,G,A,R010_S,SBDSP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SBDSP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72984732,72984732,G,A,R010_S,TBL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TBL2,NM_001362663:c.*105C>T;NM_001362660:c.*105C>T;NM_001362661:c.*105C>T;NM_001362662:c.*105C>T;NM_012453:c.*105C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73008435,73008435,C,T,R010_S,MLXIPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLXIPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73184395,73184395,G,A,R010_S,CLDN3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CLDN3,NM_001306:c.-16C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73442472,73442472,G,A,R010_S,ELN,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ELN,NM_001278918:c.-46G>A;NM_001278939:c.-46G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73469100,73469100,G,A,R010_S,ELN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ELN,NM_001278918:exon16:c.1018+1G>A;NM_001278939:exon19:c.1150+1G>A;NM_001278917:exon18:c.1120+1G>A;NM_001081752:exon18:c.1120+1G>A;NM_001081754:exon19:c.1165+1G>A;NM_001081755:exon19:c.1150+1G>A;NM_001278915:exon19:c.1150+1G>A;NM_001278916:exon18:c.1108+1G>A;NM_000501:exon19:c.1150+1G>A;NM_001278912:exon19:c.1150+1G>A;NM_001081753:exon19:c.1165+1G>A;NM_001278913:exon16:c.1042+1G>A;NM_001278914:exon18:c.1135+1G>A,NA,NA,.,.,D,.,.,.
chr7,73471921,73471921,G,A,R010_S,ELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73605522,73605522,G,A,R010_S,EIF4H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73778393,73778393,G,A,R010_S,CLIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75071459,75071459,G,A,R010_S,POM121C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POM121C,NA,NA,NA,.,.,D,.,.,T
chr7,75612833,75612833,C,T,R010_S,POR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76069710,76069710,C,T,R010_S,ZP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,77523269,77523269,C,T,R010_S,PHTF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHTF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,79082654,79082654,C,T,R010_S,MAGI2-AS3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MAGI2-AS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,80418607,80418607,G,A,R010_S,SEMA3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,81714063,81714063,G,A,R010_S,CACNA2D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,82791967,82791967,G,A,R010_S,PCLO,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PCLO,NM_033026:c.-59C>T;NM_014510:c.-59C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87022256,87022256,C,T,R010_S,CROT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CROT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87049461,87049461,C,T,R010_S,ABCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87092235,87092235,G,A,R010_S,ABCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87530244,87530244,G,A,R010_S,DBF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,91722666,91722666,G,A,R010_S,AKAP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92021540,92021540,C,T,R010_S,ANKIB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKIB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,93551350,93551350,G,A,R010_S,GNG11,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GNG11,NM_004126:c.-100G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94750005,94750005,C,T,R010_S,PPP1R9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94931445,94931445,G,A,R010_S,PON1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PON1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94996817,94996817,G,A,R010_S,PON3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PON3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95216450,95216450,C,T,R010_S,PDK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95225648,95225648,G,A,R010_S,PDK4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PDK4,NM_002612:c.-43C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,97800817,97800817,G,A,R010_S,LMTK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMTK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,97875180,97875180,C,T,R010_S,TECPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TECPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98466877,98466877,G,A,R010_S,TMEM130,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM130,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98467595,98467595,G,A,R010_S,TMEM130,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TMEM130,NM_001134450:c.-111C>T;NM_001134451:c.-111C>T;NM_152913:c.-111C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98881180,98881180,C,T,R010_S,MYH16,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYH16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98881517,98881517,G,A,R010_S,MYH16,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MYH16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99057996,99057996,G,A,R010_S,ATP5MF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5MF;ATP5MF-PTCD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99293539,99293539,G,A,R010_S,CYP3A7-CYP3A51P,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP3A7-CYP3A51P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99688817,99688817,G,A,R010_S,COPS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99695607,99695607,C,T,R010_S,MCM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99817716,99817716,G,C,R010_S,CASTOR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASTOR3;PVRIG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100061689,100061689,G,A,R010_S,C7orf61,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C7orf61,NM_001004323:c.-41C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100159855,100159855,C,T,R010_S,AGFG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGFG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100202842,100202842,C,T,R010_S,PCOLCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCOLCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100211338,100211338,G,A,R010_S,MOSPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOSPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100226019,100226019,C,T,R010_S,TFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100229897,100229897,G,A,R010_S,TFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100274219,100274219,G,A,R010_S,GNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100282273,100282273,G,A,R010_S,GIGYF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIGYF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100284195,100284195,G,A,R010_S,GIGYF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIGYF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100362834,100362834,G,A,R010_S,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100404001,100404001,G,A,R010_S,EPHB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100457910,100457910,G,A,R010_S,SLC12A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100469427,100469427,C,T,R010_S,TRIP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100482516,100482516,C,A,R010_S,SRRT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100608654,100608654,G,A,R010_S,MUC3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100696433,100696433,G,A,R010_S,MUC17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100844968,100844968,C,T,R010_S,MOGAT3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MOGAT3,dist=651,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100856562,100856562,G,A,R010_S,PLOD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLOD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100876019,100876019,G,A,R010_S,CLDN15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLDN15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,101924185,101924185,G,A,R010_S,CUX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,101928448,101928448,G,A,R010_S,SH2B2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SH2B2,NM_020979:c.-2G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102036481,102036481,C,T,R010_S,LOC100630923,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100630923,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102453743,102453743,C,T,R010_S,FBXL13,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FBXL13,NM_145032:c.*46G>A;NM_001111038:c.*46G>A;NM_001287150:c.*46G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102978032,102978032,G,A,R010_S,DNAJC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104748851,104748851,C,T,R010_S,KMT2E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104773636,104773636,C,T,R010_S,SRPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104844790,104844790,C,T,R010_S,SRPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105910779,105910779,C,T,R010_S,NAMPT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAMPT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,106888734,106888734,G,A,R010_S,COG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107575706,107575706,C,T,R010_S,LAMB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107603530,107603530,G,A,R010_S,LAMB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107834655,107834655,G,A,R010_S,NRCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,114562741,114562741,C,T,R010_S,MDFIC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDFIC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,115857923,115857923,G,A,R010_S,TES,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TES,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,116140506,116140506,G,A,R010_S,CAV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,117422890,117422890,G,A,R010_S,CTTNBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTTNBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,120591462,120591462,C,T,R010_S,ING3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ING3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,120781937,120781937,G,A,R010_S,CPED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,120906896,120906896,T,A,R010_S,CPED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,120906909,120906909,A,T,R010_S,CPED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,120969522,120969522,G,A,R010_S,WNT16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNT16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,121674219,121674219,C,T,R010_S,PTPRZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,121681098,121681098,G,A,R010_S,PTPRZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,121985620,121985620,C,T,R010_S,CADPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127983697,127983697,C,T,R010_S,RBM28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128117015,128117015,C,T,R010_S,METTL2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128128432,128128432,G,A,R010_S,METTL2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128432559,128432559,G,A,R010_S,CCDC136,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC136,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128483762,128483762,G,A,R010_S,FLNC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLNC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128505061,128505061,G,A,R010_S,ATP6V1F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128767129,128767129,G,A,R010_S,LOC407835,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC407835,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128829345,128829345,C,T,R010_S,SMO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129015605,129015605,G,A,R010_S,AHCYL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHCYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129093205,129093205,G,A,R010_S,STRIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129094380,129094380,C,T,R010_S,STRIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129775413,129775413,C,T,R010_S,KLHDC10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KLHDC10,NM_014997:c.*4827C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129948096,129948096,G,A,R010_S,CPA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130021889,130021889,G,A,R010_S,CPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130021913,130021913,C,T,R010_S,CPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130142320,130142320,G,A,R010_S,MEST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130290292,130290292,G,A,R010_S,COPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,131241007,131241007,C,T,R010_S,PODXL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PODXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,131815090,131815090,G,A,R010_S,PLXNA4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLXNA4,NM_020911:c.*148C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,132720699,132720699,G,A,R010_S,CHCHD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHCHD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134253144,134253144,G,A,R010_S,AKR1B15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1B15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134264372,134264372,G,A,R010_S,AKR1B15,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AKR1B15,NM_001367820:c.*71G>A;NM_001080538:c.*71G>A;NM_001367821:c.*71G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134653272,134653272,G,A,R010_S,CALD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CALD1,NM_033157:c.*176G>A;NM_004342:c.*176G>A;NM_033138:c.*176G>A;NM_033139:c.*176G>A;NM_033140:c.*176G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,135330812,135330812,G,A,R010_S,NUP205,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP205,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138146050,138146050,C,T,R010_S,TRIM24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138204067,138204067,G,A,R010_S,TRIM24,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TRIM24,NM_015905:exon4:c.764+1G>A;NM_003852:exon4:c.764+1G>A,NA,NA,.,.,D,.,.,.
chr7,138230134,138230134,G,A,R010_S,TRIM24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138341126,138341126,G,A,R010_S,SVOPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVOPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138453912,138453912,G,A,R010_S,ATP6V0A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V0A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139221203,139221203,G,A,R010_S,CLEC2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139724326,139724326,G,A,R010_S,PARP12,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PARP12,NM_022750:c.*34C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140439776,140439776,C,T,R010_S,BRAF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140508888,140508888,G,A,R010_S,BRAF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141424782,141424782,C,T,R010_S,WEE2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,WEE2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142231646,142231646,C,T,R010_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=74228;dist=142485,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142334803,142334803,C,T,R010_S,MIR11400,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR11400;MTRNR2L6,dist=177385;dist=39328,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142470805,142470805,G,A,R010_S,PRSS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRSS1;PRSS3P2,dist=9882;dist=7952,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142478910,142478910,C,T,R010_S,PRSS3P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PRSS3P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142494446,142494446,G,A,R010_S,PRSS3P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRSS3P2;EPHB6,dist=12047;dist=58330,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142494764,142494764,G,A,R010_S,PRSS3P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRSS3P2;EPHB6,dist=12365;dist=58012,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142563700,142563700,C,T,R010_S,EPHB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142622840,142622840,G,A,R010_S,TRPV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143028119,143028119,G,A,R010_S,CLCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143078970,143078970,G,A,R010_S,FAM131B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM131B;ZYX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,144379967,144379967,A,G,R010_S,TPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148800676,148800676,C,T,R010_S,ZNF425,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF425,NM_001001661:c.*28G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148909615,148909615,G,A,R010_S,ZNF282,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF282,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148936940,148936940,G,A,R010_S,ZNF212,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF212,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149419868,149419868,C,T,R010_S,KRBA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRBA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149476622,149476622,G,A,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_splicing,SSPO,NR_163594:exon9:c.1081-1G>A,NA,NA,.,.,.,.,.,.
chr7,149479312,149479312,G,A,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,149483205,149483205,C,T,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149486381,149486381,C,T,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,149492641,149492641,G,A,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,149499969,149499969,C,T,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149501181,149501181,G,A,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149503747,149503747,C,T,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149505357,149505357,C,T,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,149509452,149509452,C,T,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,.,.,.,.,.,.
chr7,149511769,149511769,G,A,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149515832,149515832,C,T,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149518209,149518209,C,T,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149523591,149523591,C,T,R010_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150490106,150490106,C,T,R010_S,TMEM176B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM176B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150490750,150490750,C,T,R010_S,TMEM176B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM176B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150700650,150700650,G,A,R010_S,NOS3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NOS3,NM_001160111:c.*274G>A;NM_001160110:c.*159G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150706392,150706392,C,T,R010_S,NOS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150732953,150732953,C,T,R010_S,ABCB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150749380,150749380,C,T,R010_S,ASIC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASIC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150819911,150819911,C,T,R010_S,AGAP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AGAP3,NM_001308304:c.*37C>T;NM_001042535:c.*37C>T;NM_001308305:c.*37C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151078326,151078326,G,A,R010_S,WDR86,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WDR86,NM_001284262:c.*342C>T;NM_001284260:c.*88C>T;NM_198285:c.*342C>T;NM_001284261:c.*119C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151372771,151372771,G,A,R010_S,PRKAG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKAG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151834061,151834061,C,T,R010_S,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151850052,151850052,G,A,R010_S,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152142549,152142549,C,T,R010_S,FABP5P3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FABP5P3;LINC01003,dist=2449;dist=18660,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154679378,154679378,C,T,R010_S,DPP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154684214,154684214,C,T,R010_S,DPP6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DPP6,NM_001364498:c.*24C>T;NM_001364497:c.*24C>T;NM_001364499:c.*24C>T;NM_001364500:c.*24C>T;NM_001039350:c.*24C>T;NM_130797:c.*24C>T;NM_001936:c.*24C>T;NM_001290252:c.*24C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154739534,154739534,C,T,R010_S,PAXIP1-AS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PAXIP1-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,156555772,156555772,C,T,R010_S,LMBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,156786719,156786719,G,A,R010_S,NOM1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NOM1;MNX1,dist=20849;dist=10828,NA,NA,NA,NA,NA,NA,NA,NA
chr7,158560532,158560532,C,T,R010_S,ESYT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESYT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,2007265,2007265,C,T,R010_S,MYOM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11142592,11142592,C,T,R010_S,MTMR9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11418541,11418541,C,T,R010_S,BLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11640971,11640971,G,A,R010_S,NEIL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEIL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11704447,11704447,C,T,R010_S,CTSB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTSB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12952221,12952221,C,T,R010_S,DLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,20069730,20069730,C,T,R010_S,ATP6V1B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21883053,21883053,G,A,R010_S,NPM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21905429,21905429,G,A,R010_S,FGF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22037089,22037089,G,A,R010_S,BMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22104663,22104663,G,A,R010_S,POLR3D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR3D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22442416,22442416,C,T,R010_S,PDLIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDLIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,23116042,23116042,G,A,R010_S,CHMP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHMP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27472450,27472450,C,T,R010_S,CLU,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CLU,dist=233,NA,NA,NA,NA,NA,NA,NA,NA
chr8,28286178,28286178,G,A,R010_S,FBXO16,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FBXO16,NM_001258211:c.*66C>T;NM_172366:c.*66C>T,NA,NA,T,.,N,T,N,T
chr8,28600548,28600548,G,A,R010_S,EXTL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXTL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,37623409,37623409,C,T,R010_S,PLPBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLPBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38001674,38001674,C,T,R010_S,STAR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STAR,NM_000349:c.*117G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38272225,38272225,G,A,R010_S,FGFR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGFR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38810227,38810227,G,A,R010_S,PLEKHA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38961116,38961116,C,T,R010_S,ADAM9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39323349,39323349,G,A,R010_S,ADAM3A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ADAM3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39323435,39323435,G,A,R010_S,ADAM3A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ADAM3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,40644310,40644310,G,A,R010_S,ZMAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42049065,42049065,C,T,R010_S,PLAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42233433,42233433,G,A,R010_S,DKK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DKK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42287809,42287809,G,A,R010_S,SLC20A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC20A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48826438,48826438,G,A,R010_S,PRKDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,53547545,53547545,G,A,R010_S,RB1CC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RB1CC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,56723750,56723750,G,A,R010_S,TGS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,59502549,59502549,G,A,R010_S,NSMAF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSMAF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,61482510,61482510,G,A,R010_S,RAB2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,61743142,61743142,G,A,R010_S,CHD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62204939,62204939,G,A,R010_S,CLVS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLVS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62491337,62491337,A,G,R010_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67422320,67422320,C,T,R010_S,VXN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VXN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67999150,67999150,G,A,R010_S,CSPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,69537810,69537810,G,A,R010_S,C8orf34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C8orf34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74235076,74235076,G,A,R010_S,RDH10-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RDH10-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74463926,74463926,G,A,R010_S,STAU2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STAU2,NM_001164385:c.*315C>T;NM_014393:c.*315C>T;NM_001164384:c.*315C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74692670,74692670,G,A,R010_S,UBE2W,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UBE2W,NM_001271015:c.*45C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,75525172,75525172,G,A,R010_S,MIR2052HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR2052HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82547486,82547486,G,A,R010_S,IMPA1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IMPA1P1;IMPA1,dist=3974;dist=21663,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82630540,82630540,G,A,R010_S,ZFAND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFAND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86126543,86126543,G,A,R010_S,E2F5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,E2F5;RBIS,NM_001951:c.*446G>A;NM_001083588:c.*446G>A;NM_001083589:c.*446G>A;NM_001099673:c.*252C>T;NM_001099672:c.*252C>T;NM_001293320:c.*252C>T;NM_001099670:c.*252C>T;NM_001099671:c.*252C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86171824,86171824,G,A,R010_S,CA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86354450,86354450,G,A,R010_S,CA3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CA3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,89339512,89339512,C,T,R010_S,MMP16,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MMP16,NM_005941:c.-77G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,89340326,89340326,G,A,R010_S,MMP16,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MMP16,dist=614,NA,NA,NA,NA,NA,NA,NA,NA
chr8,91049282,91049282,G,A,R010_S,DECR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DECR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,91715641,91715641,C,T,R010_S,TMEM64,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TMEM64;NECAB1,dist=57330;dist=88362,NA,NA,NA,NA,NA,NA,NA,NA
chr8,92130302,92130302,C,T,R010_S,LRRC69,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC69,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,94714437,94714437,A,G,R010_S,FAM92A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM92A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,94738820,94738820,G,A,R010_S,FAM92A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM92A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100779001,100779001,G,A,R010_S,VPS13B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,VPS13B,NM_017890:exon40:c.7126-1G>A;NM_152564:exon40:c.7051-1G>A,NA,NA,.,.,D,.,.,.
chr8,100821763,100821763,G,A,R010_S,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,102611480,102611480,G,A,R010_S,GRHL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRHL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,102705197,102705197,C,T,R010_S,NCALD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCALD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,103307789,103307789,G,A,R010_S,UBR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,103341665,103341665,G,A,R010_S,UBR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,103667831,103667831,G,A,R010_S,KLF10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KLF10,NM_005655:c.-2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104343750,104343750,C,T,R010_S,FZD6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FZD6,NM_001164615:c.*13C>T;NM_001164616:c.*13C>T;NM_001317796:c.*13C>T;NM_003506:c.*13C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104427639,104427639,G,A,R010_S,DCAF13,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DCAF13,NM_015420:c.-36G>A,NA,NA,T,.,N,T,N,T
chr8,104924464,104924464,G,A,R010_S,RIMS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104928578,104928578,C,A,R010_S,RIMS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,105839589,105839589,G,A,R010_S,LRP12,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LRP12;ZFPM2,dist=238337;dist=491077,NA,NA,NA,NA,NA,NA,NA,NA
chr8,107710207,107710207,G,T,R010_S,OXR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,107738408,107738408,G,A,R010_S,OXR1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OXR1,NM_001198535:c.-64G>A;NM_001198534:c.-64G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110376735,110376735,C,T,R010_S,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110491770,110491770,C,T,R010_S,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110703404,110703404,G,A,R010_S,SYBU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYBU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,113243667,113243667,G,A,R010_S,CSMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,118844020,118844020,C,T,R010_S,EXT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120429239,120429239,C,T,R010_S,CCN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121379494,121379494,C,T,R010_S,COL14A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL14A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125015298,125015298,G,A,R010_S,FER1L6-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FER1L6-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,126010953,126010953,G,A,R010_S,SQLE,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SQLE,NM_003129:c.-693G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,126114768,126114768,G,A,R010_S,NSMCE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSMCE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131833684,131833684,G,A,R010_S,ADCY8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133152497,133152497,C,T,R010_S,KCNQ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133187894,133187894,G,A,R010_S,KCNQ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133590682,133590682,G,A,R010_S,LRRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133763995,133763995,G,A,R010_S,TMEM71,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM71,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133851601,133851601,C,T,R010_S,PHF20L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF20L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133879201,133879201,G,A,R010_S,TG,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TG,dist=2,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133912381,133912381,C,T,R010_S,TG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,134107526,134107526,G,A,R010_S,SLA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLA;TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,134203350,134203350,G,A,R010_S,CCN4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCN4,NM_001204869:c.-38G>A;NM_001204870:c.-38G>A;NM_003882:c.-38G>A;NM_080838:c.-38G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,134314121,134314121,G,A,R010_S,NDRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NDRG1;ST3GAL1,dist=4574;dist=152970,NA,NA,NA,NA,NA,NA,NA,NA
chr8,136471011,136471011,C,T,R010_S,KHDRBS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KHDRBS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,139620264,139620264,C,T,R010_S,COL22A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL22A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,139696542,139696542,G,A,R010_S,COL22A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL22A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,139703021,139703021,C,T,R010_S,COL22A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL22A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,139749946,139749946,C,T,R010_S,COL22A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL22A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141685653,141685653,C,T,R010_S,PTK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141742498,141742498,G,A,R010_S,PTK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141762231,141762231,C,T,R010_S,PTK2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTK2,NM_001352747:c.-5277G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141994400,141994400,C,T,R010_S,PTK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142221807,142221807,G,A,R010_S,SLC45A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC45A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142222283,142222283,G,A,R010_S,SLC45A4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC45A4,NM_001286648:c.*7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142229660,142229660,G,A,R010_S,SLC45A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC45A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142435263,142435263,C,T,R010_S,PTP4A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTP4A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143562764,143562764,C,T,R010_S,ADGRB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143570892,143570892,C,T,R010_S,ADGRB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143783929,143783929,G,A,R010_S,LNCOC1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LNCOC1,NA,NA,NA,T,.,N,.,N,T
chr8,143867991,143867991,G,A,R010_S,LY6D,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LY6D,dist=36,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143957646,143957646,G,A,R010_S,CYP11B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP11B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143995356,143995356,C,T,R010_S,CYP11B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP11B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144125437,144125437,G,A,R010_S,C8orf31,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C8orf31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144463339,144463339,G,A,R010_S,RHPN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144656885,144656885,C,T,R010_S,NAPRT,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,NAPRT,dist=70,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144688615,144688615,G,A,R010_S,PYCR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYCR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144886682,144886682,G,A,R010_S,SCRIB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCRIB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144921437,144921437,G,A,R010_S,NRBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144923118,144923118,C,T,R010_S,NRBP2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NRBP2,NM_178564:c.-112G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145004072,145004072,C,T,R010_S,PLEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145009343,145009343,G,A,R010_S,PLEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145010314,145010314,G,A,R010_S,PLEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145165208,145165208,C,T,R010_S,WDR97,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR97,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145169632,145169632,G,A,R010_S,WDR97,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR97,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145170796,145170796,G,A,R010_S,WDR97,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR97,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145581208,145581208,G,A,R010_S,FBXL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145614581,145614581,C,T,R010_S,ADCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145616524,145616524,G,A,R010_S,ADCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145620307,145620307,C,T,R010_S,CPSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145622904,145622904,G,A,R010_S,CPSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145689487,145689487,C,T,R010_S,CYHR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYHR1,NM_032687:c.*23G>A;NM_001129888:c.*23G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145697664,145697664,G,A,R010_S,KIFC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIFC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145754390,145754390,G,A,R010_S,C8orf82,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C8orf82,NM_001001795:c.-90C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145979510,145979510,C,T,R010_S,ZNF251,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF251,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145980876,145980876,C,T,R010_S,ZNF251,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF251,NM_138367:c.-763G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,146005558,146005558,G,A,R010_S,ZNF34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,146220087,146220087,C,T,R010_S,ZNF252P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF252P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,446338,446338,C,T,R010_S,DOCK8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,730319,730319,G,A,R010_S,KANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,745157,745157,C,T,R010_S,KANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,2641555,2641555,G,A,R010_S,VLDLR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VLDLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,2807976,2807976,C,T,R010_S,PUM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,4604126,4604126,G,A,R010_S,SPATA6L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA6L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,4823437,4823437,G,A,R010_S,RCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,4850320,4850320,G,A,R010_S,MIR101-2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR101-2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,5070089,5070089,C,T,R010_S,JAK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,6814812,6814812,C,T,R010_S,KDM4C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KDM4C,NM_001304341:c.*46C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,13165257,13165257,C,T,R010_S,MPDZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPDZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,15571605,15571605,G,A,R010_S,CCDC171,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC171,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,21862028,21862028,C,T,R010_S,MTAP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MTAP,NM_002451:c.*15C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33115953,33115953,G,A,R010_S,B4GALT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33267945,33267945,G,A,R010_S,CHMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33352373,33352373,G,A,R010_S,NFX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33462878,33462878,G,A,R010_S,NOL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33924194,33924194,G,A,R010_S,UBAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34319659,34319659,C,T,R010_S,KIF24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34513225,34513225,C,T,R010_S,DNAI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34557826,34557826,G,A,R010_S,CNTFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34647815,34647815,C,T,R010_S,GALT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35093723,35093723,C,T,R010_S,PIGO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35559166,35559166,C,T,R010_S,RUSC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUSC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35664133,35664133,G,A,R010_S,ARHGEF39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35680880,35680880,G,A,R010_S,CA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35720804,35720804,C,T,R010_S,TLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35750227,35750227,C,T,R010_S,RGP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35792403,35792403,C,T,R010_S,NPR2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NPR2,dist=3,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35813428,35813428,C,T,R010_S,HINT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HINT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35835004,35835004,C,T,R010_S,TMEM8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37531826,37531826,G,A,R010_S,FBXO10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,71534518,71534518,C,T,R010_S,PIP5K1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP5K1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,72046321,72046321,G,A,R010_S,APBA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,74975779,74975779,G,A,R010_S,ZFAND5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFAND5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,77703543,77703543,C,T,R010_S,OSTF1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OSTF1,NM_012383:c.-66C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,78938263,78938263,C,T,R010_S,PCSK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,80645544,80645544,C,T,R010_S,GNAQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNAQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,84530663,84530663,C,T,R010_S,SPATA31D5P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SPATA31D5P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,85624760,85624760,C,T,R010_S,RASEF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,85926727,85926727,C,T,R010_S,FRMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,88692288,88692288,C,T,R010_S,GOLM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,90396097,90396097,G,A,R010_S,CTSL3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CTSL3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,91159238,91159238,C,T,R010_S,NXNL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NXNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,92011578,92011578,C,T,R010_S,SEMA4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,94919611,94919611,G,A,R010_S,LINC00475,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00475,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95025227,95025227,G,A,R010_S,IARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,96081609,96081609,G,A,R010_S,WNK2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WNK2,NM_001282394:c.*1300G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,96213206,96213206,C,T,R010_S,FAM120AOS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM120AOS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,97218665,97218665,C,T,R010_S,MFSD14B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD14B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,98278859,98278859,C,T,R010_S,PTCH1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTCH1,NM_001083602:c.-106G>A;NM_001354919:c.-106G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99083417,99083417,C,T,R010_S,SLC35D2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC35D2,NM_001286990:c.*107G>A;NM_007001:c.*107G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99114419,99114419,G,A,R010_S,SLC35D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100894360,100894360,G,A,R010_S,CORO2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CORO2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101494988,101494988,C,T,R010_S,ANKS6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANKS6,NM_173551:c.*3813G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101536393,101536393,C,T,R010_S,ANKS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,102822284,102822284,C,T,R010_S,ERP44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERP44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112141792,112141792,G,A,R010_S,PTPN3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTPN3,NM_001145369:c.*44C>T;NM_001145370:c.*44C>T;NM_002829:c.*44C>T;NM_001145372:c.*44C>T;NM_001145368:c.*44C>T;NM_001145371:c.*44C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112145682,112145682,G,A,R010_S,PTPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113065794,113065794,G,A,R010_S,TXNDC8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TXNDC8,NM_001003936:c.*168C>T;NM_001286946:c.*168C>T;NM_001364963:c.*7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113275155,113275155,G,A,R010_S,SVEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114213630,114213630,G,A,R010_S,ECPAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECPAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114659493,114659493,G,A,R010_S,UGCG,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,UGCG,NM_003358:c.-3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115095810,115095810,G,A,R010_S,PTBP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTBP3,NM_001163790:c.-53C>T;NM_001244896:c.-35696C>T;NM_001244897:c.-35665C>T;NM_001163788:c.-35665C>T;NM_005156:c.-53C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115336245,115336245,C,T,R010_S,KIAA1958,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1958,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115925250,115925250,C,T,R010_S,FKBP15,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FKBP15;SLC31A2,NM_015258:c.*3108G>A;NM_001860:c.*53C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116085042,116085042,C,T,R010_S,WDR31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116094183,116094183,G,A,R010_S,WDR31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116327497,116327497,G,A,R010_S,RGS3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RGS3,NM_134427:c.-29223G>A;NM_001322215:c.-90G>A;NM_001351526:c.-18233G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116958176,116958176,G,A,R010_S,COL27A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL27A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,117087178,117087178,G,A,R010_S,ORM1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ORM1,NM_000607:exon4:c.436+1G>A,NA,NA,.,.,D,.,.,.
chr9,119204657,119204657,G,A,R010_S,ASTN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123151481,123151481,G,A,R010_S,CDK5RAP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDK5RAP2,NM_001272039:c.*33C>T;NM_018249:c.*33C>T;NM_001011649:c.*33C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123169581,123169581,C,T,R010_S,CDK5RAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK5RAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123578048,123578048,G,A,R010_S,PSMD5,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,PSMD5,dist=284,NA,NA,.,.,N,.,.,T
chr9,123586756,123586756,G,A,R010_S,PSMD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123759757,123759757,C,T,R010_S,C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123903582,123903582,T,C,R010_S,CNTRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123924586,123924586,C,T,R010_S,CNTRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124064521,124064521,G,A,R010_S,GSN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124519544,124519544,C,T,R010_S,DAB2IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAB2IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124976186,124976186,C,T,R010_S,LHX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LHX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125524446,125524446,G,A,R010_S,OR1L6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR1L6;OR5C1,dist=11384;dist=26766,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125863844,125863844,G,A,R010_S,RABGAP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RABGAP1,NM_012197:exon25:c.2890-1G>A,NA,NA,.,.,D,.,.,.
chr9,127237712,127237712,G,A,R010_S,PSMB7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PSMB7;NR5A1,dist=59991;dist=5803,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127306222,127306222,G,A,R010_S,NR6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127557446,127557446,C,T,R010_S,OLFML2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OLFML2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127969834,127969834,C,T,R010_S,RABEPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABEPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,129376946,129376946,G,A,R010_S,LMX1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMX1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130147501,130147501,C,T,R010_S,GARNL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GARNL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130270867,130270867,C,T,R010_S,NIBAN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIBAN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130341333,130341333,C,T,R010_S,NIBAN2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NIBAN2,dist=23,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130455565,130455565,C,T,R010_S,STXBP1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,STXBP1,dist=350,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130517255,130517255,G,A,R010_S,SH2D3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2D3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130588181,130588181,C,T,R010_S,ENG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130710728,130710728,C,T,R010_S,FAM102A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM102A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130868317,130868317,C,T,R010_S,SLC25A25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130868561,130868561,G,A,R010_S,SLC25A25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130938587,130938587,C,T,R010_S,CIZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131008801,131008801,C,T,R010_S,DNM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131009650,131009650,G,A,R010_S,DNM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131084514,131084514,C,T,R010_S,TRUB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRUB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131115063,131115063,C,T,R010_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131186390,131186390,G,A,R010_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131476471,131476471,C,T,R010_S,PKN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131478997,131478997,C,T,R010_S,PKN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131497731,131497731,G,A,R010_S,ZER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131748735,131748735,G,A,R010_S,NUP188,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131860521,131860521,G,A,R010_S,CRAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132590365,132590365,C,T,R010_S,C9orf78,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C9orf78,NM_016520:c.*75G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132719859,132719859,C,T,R010_S,FNBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132887102,132887102,G,A,R010_S,GPR107,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR107,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132963308,132963308,G,A,R010_S,NCS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133234944,133234944,C,T,R010_S,HMCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133278484,133278484,C,T,R010_S,HMCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133307725,133307725,C,T,R010_S,HMCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133501675,133501675,C,T,R010_S,FUBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133730115,133730115,C,T,R010_S,ABL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133914466,133914466,C,T,R010_S,LAMC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134394094,134394094,C,T,R010_S,POMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135753395,135753395,G,T,R010_S,AK8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135930439,135930439,C,T,R010_S,GTF3C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135930836,135930836,G,A,R010_S,GTF3C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136216318,136216318,C,T,R010_S,SNORD24,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORD24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136288300,136288300,G,A,R010_S,ADAMTS13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136303331,136303331,A,G,R010_S,ADAMTS13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136536824,136536824,G,A,R010_S,SARDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SARDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136595434,136595434,C,T,R010_S,SARDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SARDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136672363,136672363,G,A,R010_S,VAV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137544756,137544756,G,A,R010_S,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137624019,137624019,C,T,R010_S,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137624034,137624034,G,A,R010_S,COL5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137741574,137741574,C,T,R010_S,LOC101448202,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101448202;MIR3689A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138456045,138456045,G,A,R010_S,PAEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138457451,138457451,G,A,R010_S,PAEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139094891,139094891,C,T,R010_S,LHX3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LHX3,NM_014564:c.-6G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139259701,139259701,C,T,R010_S,CARD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139328618,139328618,C,T,R010_S,INPP5E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139409903,139409903,G,A,R010_S,NOTCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139413019,139413019,C,T,R010_S,NOTCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139566763,139566763,G,A,R010_S,EGFL7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EGFL7,NM_016215:c.*25G>A;NM_201446:c.*25G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139616540,139616540,G,A,R010_S,DIPK1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIPK1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139725387,139725387,C,T,R010_S,RABL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139725484,139725484,G,A,R010_S,RABL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139725618,139725618,C,T,R010_S,RABL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139802463,139802463,C,T,R010_S,TRAF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139836922,139836922,G,A,R010_S,FBXW5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXW5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139849022,139849022,C,G,R010_S,LCN12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139887025,139887025,G,A,R010_S,PAXX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAXX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139990577,139990577,G,A,R010_S,MAN1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140083155,140083155,G,A,R010_S,SSNA1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SSNA1,NM_003731:c.-24G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140328876,140328876,G,A,R010_S,ENTPD8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ENTPD8,NM_001033113:c.*490C>T;NM_198585:c.*490C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140347678,140347678,C,T,R010_S,NSMF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSMF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140349010,140349010,G,A,R010_S,NSMF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSMF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5140930,5140930,G,A,R010_S,AKR1C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5197905,5197905,G,A,R010_S,AKR1C8P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AKR1C8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,7747172,7747172,G,A,R010_S,ITIH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,11532729,11532729,C,T,R010_S,USP6NL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP6NL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,11972008,11972008,G,A,R010_S,UPF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UPF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,12214906,12214906,G,A,R010_S,NUDT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,17279351,17279351,G,A,R010_S,VIM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,VIM,NM_003380:c.*81G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,30992585,30992585,C,T,R010_S,SVIL2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SVIL2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,30992627,30992627,G,A,R010_S,SVIL2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SVIL2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,32324785,32324785,G,A,R010_S,KIF5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,32832195,32832195,C,T,R010_S,CCDC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33545179,33545179,G,A,R010_S,NRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,38126670,38126670,G,A,R010_S,ZNF248,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF248,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,55698482,55698482,C,T,R010_S,PCDH15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDH15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,55949286,55949286,C,T,R010_S,PCDH15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDH15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,58119660,58119660,C,T,R010_S,ZWINT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZWINT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,63212573,63212573,G,A,R010_S,TMEM26-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TMEM26-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,64575809,64575809,G,A,R010_S,EGR2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EGR2,NM_000399:c.-20C>T;NM_001136178:c.-20C>T;NM_001136177:c.-20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70166768,70166768,C,T,R010_S,RUFY2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RUFY2,NM_017987:c.-149G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70980081,70980081,C,T,R010_S,LOC101928994,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928994,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71075602,71075602,G,A,R010_S,HK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71145986,71145986,G,A,R010_S,HK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71874605,71874605,G,A,R010_S,AIFM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AIFM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,72207597,72207597,C,T,R010_S,NODAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NODAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,73055741,73055741,G,A,R010_S,UNC5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,73483649,73483649,C,T,R010_S,C10orf105,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C10orf105;CDH23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,74182963,74182963,C,T,R010_S,MICU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75147592,75147592,G,A,R010_S,ANXA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75238193,75238193,G,A,R010_S,PPP3CB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP3CB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75397687,75397687,G,A,R010_S,MYOZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75520685,75520685,C,T,R010_S,SEC24C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC24C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75554238,75554238,C,T,R010_S,ZSWIM8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75555231,75555231,C,T,R010_S,ZSWIM8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,81374829,81374829,G,A,R010_S,SFTPA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SFTPA1,NM_001164645:c.*960G>A;NM_001164644:c.*960G>A;NM_001164647:c.*960G>A;NM_001164646:c.*960G>A;NM_001093770:c.*960G>A;NM_005411:c.*960G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,81930871,81930871,C,T,R010_S,ANXA11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,82269299,82269299,G,A,R010_S,TSPAN14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,88730034,88730034,G,A,R010_S,ADIRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADIRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,90591541,90591541,G,A,R010_S,ANKRD22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94507692,94507692,C,T,R010_S,HHEX,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HHEX;EXOC6,dist=52288;dist=78896,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94833971,94833971,G,A,R010_S,CYP26A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP26A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95287706,95287706,G,A,R010_S,CEP55,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CEP55,NM_001127182:exon9:c.1192-1G>A;NM_018131:exon9:c.1192-1G>A,NA,NA,.,.,D,.,.,.
chr10,95443805,95443805,G,A,R010_S,FRA10AC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRA10AC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96493009,96493009,C,T,R010_S,CYP2C18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2C18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97951921,97951921,C,T,R010_S,BLNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98006851,98006851,C,T,R010_S,BLNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98082361,98082361,G,A,R010_S,DNTT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNTT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98799686,98799686,C,T,R010_S,SLIT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98924684,98924684,G,A,R010_S,ARHGAP19-SLIT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ARHGAP19-SLIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99126494,99126494,C,T,R010_S,RRP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,100008662,100008662,G,A,R010_S,LOXL4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LOXL4,NM_032211:c.*16C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102259925,102259925,G,A,R010_S,SEC31B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC31B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102792186,102792186,C,T,R010_S,SFXN3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SFXN3,NM_030971:c.-45C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102986911,102986911,G,A,R010_S,LBX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LBX1,NM_006562:c.*116C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102997711,102997711,G,A,R010_S,LBX1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LBX1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103360381,103360381,C,T,R010_S,DPCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103751602,103751602,G,A,R010_S,ARMH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104309634,104309634,G,A,R010_S,SUFU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUFU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104678221,104678221,G,A,R010_S,CNNM2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CNNM2,NM_017649:c.-17G>A;NM_199076:c.-17G>A;NM_199077:c.-17G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105791961,105791961,C,T,R010_S,COL17A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,COL17A1,NM_000494:c.*32G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105799588,105799588,C,T,R010_S,COL17A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL17A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,106802955,106802955,G,A,R010_S,SORCS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORCS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115336900,115336900,C,T,R010_S,HABP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HABP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115406793,115406793,G,A,R010_S,NRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,120924894,120924894,G,A,R010_S,SFXN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFXN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124013400,124013400,G,A,R010_S,TACC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TACC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126691770,126691770,G,A,R010_S,CTBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,128904473,128904473,C,T,R010_S,DOCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134624106,134624106,G,A,R010_S,CFAP46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134722778,134722778,G,A,R010_S,CFAP46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135204550,135204550,C,T,R010_S,PAOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135370675,135370675,G,A,R010_S,SYCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,558151,558151,C,T,R010_S,LMNTD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMNTD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,562035,562035,G,A,R010_S,RASSF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASSF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,721008,721008,G,A,R010_S,EPS8L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,726255,726255,C,T,R010_S,EPS8L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,824460,824460,C,T,R010_S,PNPLA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,830722,830722,C,T,R010_S,CRACR2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRACR2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1003682,1003682,G,A,R010_S,AP2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1013843,1013843,G,A,R010_S,MUC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1020622,1020622,G,A,R010_S,MUC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1103367,1103367,G,A,R010_S,MUC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1215964,1215964,G,A,R010_S,MUC5AC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC5AC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1218151,1218151,G,A,R010_S,MUC5AC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC5AC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1251642,1251642,G,A,R010_S,MUC5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1307390,1307390,C,T,R010_S,TOLLIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOLLIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1466121,1466121,C,T,R010_S,BRSK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRSK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1585040,1585040,G,A,R010_S,DUSP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUSP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1905509,1905509,G,A,R010_S,LSP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LSP1,NM_002339:exon6:c.592-1G>A;NM_001242932:exon7:c.976-1G>A;NM_001013253:exon6:c.406-1G>A;NM_001289005:exon6:c.406-1G>A;NM_001013254:exon6:c.406-1G>A;NM_001013255:exon6:c.406-1G>A,NA,NA,.,.,D,.,.,.
chr11,1911774,1911774,C,T,R010_S,LSP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSP1,NA,NA,NA,D,.,N,T,N,T
chr11,2005701,2005701,G,A,R010_S,MRPL23-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MRPL23-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2017465,2017465,G,A,R010_S,H19,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,H19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2337107,2337107,C,T,R010_S,TSPAN32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2337566,2337566,C,T,R010_S,TSPAN32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2407013,2407013,G,A,R010_S,CD81,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD81,NA,NA,NA,T,.,N,T,N,T
chr11,2411776,2411776,C,T,R010_S,CD81,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD81,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3143123,3143123,G,A,R010_S,OSBPL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBPL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3249074,3249074,G,A,R010_S,MRGPRE,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MRGPRE,NM_001039165:c.*17C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3714664,3714664,C,A,R010_S,NUP98,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP98,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4128803,4128803,G,A,R010_S,RRM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4622366,4622366,G,A,R010_S,TRIM68,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5020147,5020147,C,T,R010_S,OR51L1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OR51L1,dist=66,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5664115,5664115,C,T,R010_S,TRIM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM34;TRIM6-TRIM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6173208,6173208,G,A,R010_S,OR56B4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR56B4;OR52B2,dist=43143;dist=17377,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6236150,6236150,G,A,R010_S,FAM160A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM160A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6470520,6470520,C,T,R010_S,TRIM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6502971,6502971,C,T,R010_S,TIMM10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMM10B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6630440,6630440,C,T,R010_S,TAF10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TAF10,NM_006284:c.*1713G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6637865,6637865,C,T,R010_S,TPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6651158,6651158,G,A,R010_S,DCHS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCHS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6740032,6740032,C,T,R010_S,GVINP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GVINP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7079496,7079496,C,T,R010_S,NLRP14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7660932,7660932,G,A,R010_S,PPFIBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8159038,8159038,C,T,R010_S,RIC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8934231,8934231,G,A,R010_S,AKIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8951154,8951154,G,A,R010_S,C11orf16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,10327797,10327797,G,A,R010_S,ADM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,13395757,13395757,G,A,R010_S,ARNTL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNTL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,16339450,16339450,G,A,R010_S,SOX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17373448,17373448,T,G,R010_S,NCR3LG1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NCR3LG1,NM_001202439:c.-69T>G,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17565888,17565888,C,T,R010_S,USH1C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,USH1C,NM_153676:c.-34G>A;NM_005709:c.-34G>A;NM_001297764:c.-34G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18101889,18101889,C,T,R010_S,SAAL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SAAL1,NM_138421:c.*57G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18267660,18267660,A,T,R010_S,SAA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAA2;SAA2-SAA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18318288,18318288,G,A,R010_S,HPS5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18548480,18548480,G,A,R010_S,TSG101,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TSG101,NM_006292:c.-117C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,19258799,19258799,G,A,R010_S,E2F8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,E2F8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,20126988,20126988,C,T,R010_S,NAV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,20429408,20429408,C,T,R010_S,PRMT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22398066,22398066,G,A,R010_S,SLC17A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,26538300,26538300,C,T,R010_S,ANO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,26732837,26732837,G,A,R010_S,SLC5A12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,27114679,27114679,A,G,R010_S,BBOX1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BBOX1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,27379135,27379135,C,T,R010_S,CCDC34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,32615547,32615547,C,T,R010_S,EIF3M,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3M,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,33724271,33724271,C,T,R010_S,CD59,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,CD59,dist=285,NA,NA,NA,NA,NA,NA,NA,NA
chr11,33770480,33770480,C,T,R010_S,FBXO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,33778500,33778500,A,G,R010_S,FBXO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,33902780,33902780,G,A,R010_S,LMO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,35302583,35302583,G,A,R010_S,SLC1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,35441645,35441645,C,T,R010_S,SLC1A2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SLC1A2,dist=40,NA,NA,NA,NA,NA,NA,NA,NA
chr11,36103202,36103202,G,A,R010_S,LDLRAD3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LDLRAD3,NM_001304263:exon2:c.47-1G>A;NM_001304264:exon2:UTR5;NM_174902:exon3:c.194-1G>A,NA,NA,.,.,D,.,.,.
chr11,36120100,36120100,C,T,R010_S,LDLRAD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDLRAD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,36296099,36296099,C,T,R010_S,COMMD9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,COMMD9,NM_014186:c.*83G>A;NM_001307937:c.*83G>A;NM_001101653:c.*83G>A;NM_001307932:c.*87G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,44072968,44072968,C,T,R010_S,ACCSL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACCSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,44074502,44074502,A,G,R010_S,ACCSL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACCSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,45234187,45234187,C,T,R010_S,PRDM11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,45891782,45891782,C,T,R010_S,CRY2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47179334,47179334,G,A,R010_S,C11orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47179503,47179503,C,T,R010_S,C11orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47298129,47298129,G,A,R010_S,MADD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MADD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47433646,47433646,C,T,R010_S,SLC39A13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47837462,47837462,G,A,R010_S,NUP160,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47858684,47858684,G,A,R010_S,NUP160,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,57175240,57175240,G,A,R010_S,SLC43A3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC43A3,NM_199329:c.*25C>T;NM_014096:c.*25C>T;NM_017611:c.*25C>T;NM_001278201:c.*25C>T;NM_001278206:c.*25C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59348913,59348913,C,T,R010_S,OSBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59996165,59996165,C,T,R010_S,MS4A4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61039335,61039335,C,T,R010_S,VWCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61067761,61067761,C,T,R010_S,DDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61081779,61081779,C,T,R010_S,DDB1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DDB1,NM_001923:exon13:c.1589+1G>A,NA,NA,.,.,D,.,.,.
chr11,61520398,61520398,C,T,R010_S,MYRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61524550,61524550,C,T,R010_S,MYRF-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYRF-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61543952,61543952,G,A,R010_S,MYRF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62455220,62455220,C,T,R010_S,LRRN4CL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRRN4CL,NM_203422:c.*44G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62458679,62458679,C,T,R010_S,HNRNPUL2-BSCL2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HNRNPUL2-BSCL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62476445,62476445,C,T,R010_S,HNRNPUL2-BSCL2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HNRNPUL2-BSCL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62555327,62555327,C,T,R010_S,TMEM179B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM179B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62656202,62656202,C,T,R010_S,SLC3A2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC3A2,NM_002394:c.*37C>T;NM_001012662:c.*37C>T;NM_001012664:c.*37C>T;NM_001013251:c.*37C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62871883,62871883,G,A,R010_S,SLC22A24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63520700,63520700,C,T,R010_S,RTN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63656390,63656390,C,T,R010_S,MARK2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MARK2,NM_017490:c.-6286C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63668563,63668563,C,T,R010_S,MARK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63673500,63673500,C,T,R010_S,MARK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63682023,63682023,G,A,R010_S,RCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63713446,63713446,C,T,R010_S,NAA40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63764328,63764328,G,A,R010_S,OTUB1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,OTUB1,NM_017670:exon5:c.339-1G>A,NA,NA,.,.,D,.,.,.
chr11,63963369,63963369,G,A,R010_S,STIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64019261,64019261,C,T,R010_S,PLCB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64081612,64081612,G,A,R010_S,ESRRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESRRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64109901,64109901,G,A,R010_S,CCDC88B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64112722,64112722,C,T,R010_S,CCDC88B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64118882,64118882,G,A,R010_S,CCDC88B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64119576,64119576,G,A,R010_S,CCDC88B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64504518,64504518,G,A,R010_S,RASGRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64679765,64679765,G,A,R010_S,ATG2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64761895,64761895,G,A,R010_S,BATF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BATF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64894613,64894613,G,A,R010_S,MRPL49,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MRPL49,NM_004927:c.*1269G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65029668,65029668,G,A,R010_S,POLA2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,POLA2,NM_002689:c.-96G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65156831,65156831,G,A,R010_S,FRMD8,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FRMD8,NM_001300833:exon3:c.86-1G>A;NM_031904:exon3:c.86-1G>A,NA,NA,.,.,D,.,.,.
chr11,65268926,65268926,C,T,R010_S,MALAT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MALAT1;TALAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65270143,65270143,G,A,R010_S,MALAT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MALAT1;TALAM1,NA,NA,NA,.,.,.,.,.,.
chr11,65338232,65338232,G,A,R010_S,ZNRD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNRD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65346924,65346924,C,T,R010_S,EHBP1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHBP1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65481002,65481002,C,T,R010_S,KAT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65617383,65617383,G,A,R010_S,SNX32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65626050,65626050,G,A,R010_S,CFL1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CFL1,dist=399,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65652168,65652168,G,A,R010_S,FIBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FIBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65767488,65767488,C,T,R010_S,EIF1AD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF1AD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66055825,66055825,C,T,R010_S,YIF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YIF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66288401,66288401,G,A,R010_S,BBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66321452,66321452,C,T,R010_S,ACTN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66438341,66438341,C,T,R010_S,RBM4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67071228,67071228,C,T,R010_S,SSH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67173611,67173611,G,A,R010_S,TBC1D10C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D10C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67174168,67174168,G,A,R010_S,TBC1D10C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D10C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67200047,67200047,G,A,R010_S,RPS6KB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67207214,67207214,G,A,R010_S,CORO1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CORO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67210907,67210907,C,T,R010_S,CORO1B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CORO1B,NM_020441:c.-808G>A;NM_001018070:c.-808G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67811163,67811163,G,A,R010_S,TCIRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCIRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68183682,68183682,C,T,R010_S,LRP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68190898,68190898,C,T,R010_S,LRP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68358269,68358269,C,T,R010_S,PPP6R3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP6R3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68701021,68701021,G,A,R010_S,IGHMBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGHMBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68821487,68821487,C,T,R010_S,TPCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,69957278,69957278,G,A,R010_S,ANO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70007892,70007892,G,A,R010_S,ANO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70192029,70192029,C,T,R010_S,PPFIA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71672017,71672017,C,T,R010_S,RNF121,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF121,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72289234,72289234,C,T,R010_S,PDE2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72406733,72406733,C,T,R010_S,ARAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72410342,72410342,C,T,R010_S,ARAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72411170,72411170,G,A,R010_S,ARAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72494744,72494744,C,T,R010_S,STARD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STARD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73066523,73066523,G,A,R010_S,ARHGEF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73070802,73070802,G,A,R010_S,ARHGEF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73105470,73105470,G,A,R010_S,RELT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73679504,73679504,G,A,R010_S,DNAJB13,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DNAJB13,NM_153614:exon6:c.720+1G>A,NA,NA,.,.,D,.,.,.
chr11,73717483,73717483,C,T,R010_S,UCP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74645000,74645000,G,A,R010_S,XRRA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74700067,74700067,C,T,R010_S,NEU3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NEU3,NM_001367865:c.-39C>T;NM_001367863:c.-39C>T;NM_001367861:c.-39C>T;NM_001367860:c.-39C>T;NM_006656:c.-39C>T;NM_001367867:c.-39C>T;NM_001367866:c.-39C>T;NM_001367864:c.-39C>T;NM_001367862:c.-39C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75694592,75694592,C,T,R010_S,UVRAG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UVRAG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76427576,76427576,C,T,R010_S,GUCY2EP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUCY2EP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76427604,76427604,G,A,R010_S,GUCY2EP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GUCY2EP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76784112,76784112,G,A,R010_S,CAPN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77690037,77690037,C,T,R010_S,INTS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,78482022,78482022,G,A,R010_S,TENM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,86055771,86055771,G,A,R010_S,HIKESHI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIKESHI,NA,NA,NA,T,.,N,T,N,T
chr11,89947356,89947356,G,A,R010_S,CHORDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHORDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,93466371,93466371,G,A,R010_S,SNORA8,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SNORA8;MIR1304;SNORA18;SNORD5,dist=706;dist=23,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94964039,94964039,C,T,R010_S,LOC100129203,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100129203,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,100814619,100814619,C,T,R010_S,ARHGAP42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,101827109,101827109,C,T,R010_S,CEP126,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CEP126,NM_001363543:c.-1881C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107462719,107462719,C,T,R010_S,ELMOD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMOD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107677407,107677407,C,T,R010_S,SLC35F2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108178747,108178747,C,T,R010_S,ATM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,110102800,110102800,G,A,R010_S,RDX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RDX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111228066,111228066,C,T,R010_S,POU2AF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POU2AF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111327353,111327353,C,T,R010_S,LOC100132078,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100132078;BTG4,dist=38442;dist=10898,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111784135,111784135,C,T,R010_S,HSPB2-C11orf52,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HSPB2-C11orf52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,112046269,112046269,C,T,R010_S,BCO2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,BCO2,NM_001256398:c.-56C>T;NM_031938:c.-56C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113186790,113186790,C,T,R010_S,TTC12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113267904,113267904,C,T,R010_S,ANKK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113320763,113320763,C,T,R010_S,MIR4301,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4301,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,114121047,114121047,G,A,R010_S,ZBTB16,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZBTB16,NM_001354750:exon7:c.1793-1G>A;NM_006006:exon7:c.1793-1G>A;NM_001354751:exon7:c.1793-1G>A;NM_001018011:exon7:c.1793-1G>A;NM_001354752:exon5:c.1706-1G>A,NA,NA,.,.,D,.,.,.
chr11,114442230,114442230,G,A,R010_S,NXPE4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NXPE4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,116701374,116701374,G,A,R010_S,APOC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117046727,117046727,G,A,R010_S,PAFAH1B2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PAFAH1B2,NM_001184748:c.*1113G>A;NM_001184746:c.*33G>A;NM_001184747:c.*49G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117109828,117109828,G,A,R010_S,RNF214,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RNF214,NM_207343:exon3:c.618+1G>A;NM_001077239:exon3:c.618+1G>A,NA,NA,.,.,D,.,.,.
chr11,117309522,117309522,G,A,R010_S,DSCAML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSCAML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117340567,117340567,G,A,R010_S,DSCAML1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSCAML1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117713530,117713530,G,A,R010_S,FXYD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXYD6;FXYD6-FXYD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118514711,118514711,C,T,R010_S,PHLDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118897594,118897594,C,T,R010_S,SLC37A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC37A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118949743,118949743,C,T,R010_S,VPS11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118962915,118962915,C,T,R010_S,HMBS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMBS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119061364,119061364,G,A,R010_S,CCDC153,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC153,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119182920,119182920,G,A,R010_S,MCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119209957,119209957,G,A,R010_S,C1QTNF5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C1QTNF5;MFRP,NM_015645:c.*84C>T;NM_001278431:c.*84C>T;NM_031433:c.*1712C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,120040663,120040663,G,A,R010_S,LOC107984399,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC107984399,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,120178187,120178187,G,A,R010_S,POU2F3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,POU2F3,NM_001244682:exon9:c.776-1G>A;NM_014352:exon9:c.770-1G>A,NA,NA,.,.,D,.,.,.
chr11,120180086,120180086,C,T,R010_S,POU2F3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POU2F3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,120853016,120853016,G,A,R010_S,GRIK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121360978,121360978,C,T,R010_S,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121481902,121481902,G,A,R010_S,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,122848303,122848303,G,A,R010_S,BSX,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BSX,NM_001098169:c.*54C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124086090,124086090,C,T,R010_S,OR10D3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR10D3;OR8G2P,dist=29138;dist=9254,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124747157,124747157,C,T,R010_S,ROBO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124761877,124761877,C,T,R010_S,ROBO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124955775,124955775,G,A,R010_S,SLC37A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC37A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124972247,124972247,C,T,R010_S,TMEM218,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TMEM218,NM_001080546:c.-110G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125617591,125617591,C,T,R010_S,PATE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126146812,126146812,G,A,R010_S,FOXRED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXRED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126276931,126276931,G,A,R010_S,ST3GAL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST3GAL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,129873096,129873096,C,T,R010_S,LINC00167,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00167,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130067872,130067872,C,T,R010_S,ST14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,130778116,130778116,G,A,R010_S,SNX19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,133792399,133792399,C,T,R010_S,IGSF9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGSF9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134118981,134118981,C,T,R010_S,THYN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THYN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134238469,134238469,G,A,R010_S,GLB1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1036150,1036150,G,A,R010_S,RAD52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2100385,2100385,C,T,R010_S,DCP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2665996,2665996,C,T,R010_S,CACNA1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2907104,2907104,C,T,R010_S,ITFG2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ITFG2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2936604,2936604,C,T,R010_S,NRIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3047250,3047250,G,A,R010_S,TULP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TULP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3120134,3120134,C,T,R010_S,TEAD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEAD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3130001,3130001,C,T,R010_S,TEAD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEAD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3147094,3147094,C,T,R010_S,TEAD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEAD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6105452,6105452,G,A,R010_S,VWF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6437216,6437216,G,A,R010_S,PLEKHG6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6562565,6562565,G,A,R010_S,TAPBPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAPBPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6882139,6882139,C,T,R010_S,LAG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6972567,6972567,C,T,R010_S,USP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6972640,6972640,C,T,R010_S,USP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7242649,7242649,C,T,R010_S,C1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7242886,7242886,G,A,R010_S,C1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7869475,7869475,C,T,R010_S,DPPA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPPA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8245266,8245266,C,T,R010_S,NECAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9085972,9085972,G,A,R010_S,PHC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9217160,9217160,G,A,R010_S,LINC00612,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00612,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9333735,9333735,G,A,R010_S,PZP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PZP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10241926,10241926,G,A,R010_S,CLEC1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10783586,10783586,C,T,R010_S,STYK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STYK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10871752,10871752,G,A,R010_S,YBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,11905356,11905356,C,T,R010_S,ETV6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,12300502,12300502,G,A,R010_S,LRP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,13152822,13152822,G,A,R010_S,GPRC5D-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GPRC5D-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15067571,15067571,G,A,R010_S,ERP27,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ERP27,NM_001300784:c.*98C>T;NM_152321:c.*98C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15811538,15811538,G,A,R010_S,EPS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,20869992,20869992,G,A,R010_S,SLCO1C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO1C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21962785,21962785,C,T,R010_S,ABCC9,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ABCC9,NM_020297:exon35:c.4315+1G>A;NM_005691:exon35:c.4315+1G>A,NA,NA,.,.,D,.,.,.
chr12,25249979,25249979,G,A,R010_S,LRMP,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LRMP,NM_001366542:exon14:c.741+1G>A;NM_001366543:exon13:c.741+1G>A;NM_001366545:exon14:c.741+1G>A;NM_001366546:exon13:c.741+1G>A;NM_001366547:exon16:c.741+1G>A;NM_001366548:exon14:c.741+1G>A;NM_001366549:exon16:c.582+1G>A;NM_001366541:exon15:c.741+1G>A;NM_001366544:exon15:c.741+1G>A;NM_001366540:exon15:c.741+1G>A;NM_001204126:exon13:c.741+1G>A;NM_001204127:exon13:c.741+1G>A;NM_006152:exon14:c.741+1G>A,NA,NA,.,.,D,.,.,.
chr12,27538303,27538303,C,T,R010_S,ARNTL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27841230,27841230,G,A,R010_S,PPFIBP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PPFIBP1,NM_177444:exon25:c.2389-1G>A;NM_001198915:exon23:c.1930-1G>A;NM_003622:exon26:c.2371-1G>A;NM_001198916:exon24:c.2296-1G>A,NA,NA,.,.,D,.,.,.
chr12,27845523,27845523,G,A,R010_S,PPFIBP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PPFIBP1,NM_177444:exon28:c.2884-1G>A;NM_001198915:exon26:c.2425-1G>A;NM_003622:exon29:c.2866-1G>A;NM_001198916:exon27:c.2791-1G>A,NA,NA,.,.,D,.,.,.
chr12,28111540,28111540,G,A,R010_S,PTHLH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTHLH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31478189,31478189,C,T,R010_S,FLJ13224,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FLJ13224,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,39713613,39713613,C,T,R010_S,KIF21A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40742152,40742152,G,A,R010_S,LRRK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40758637,40758637,G,A,R010_S,LRRK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40815877,40815877,C,T,R010_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,41957304,41957304,C,T,R010_S,PDZRN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDZRN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,44139825,44139825,C,T,R010_S,PUS7L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUS7L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46123724,46123724,C,T,R010_S,ARID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48111829,48111829,C,T,R010_S,ENDOU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENDOU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48178068,48178068,G,A,R010_S,HDAC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48272723,48272723,C,T,R010_S,VDR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48738521,48738521,C,T,R010_S,ZNF641,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF641,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49298093,49298093,C,T,R010_S,CCDC65,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCDC65,NM_033124:c.-27C>T;NM_001286957:c.-10223C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49421753,49421753,C,T,R010_S,KMT2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49430907,49430907,C,T,R010_S,KMT2D,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KMT2D,NM_003482:exon34:c.10231+1G>A,NA,NA,.,.,D,.,.,.
chr12,49491942,49491942,C,T,R010_S,LMBR1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMBR1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49582272,49582272,C,T,R010_S,TUBA1A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TUBA1A,NM_001270399:c.-70G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49690321,49690321,C,T,R010_S,LOC101927267,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101927267,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49690380,49690380,G,A,R010_S,LOC101927267,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927267,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49953987,49953987,C,T,R010_S,MCRS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCRS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50357993,50357993,G,A,R010_S,AQP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AQP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50560871,50560871,C,T,R010_S,CERS5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51504837,51504837,C,T,R010_S,TFCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51733638,51733638,G,A,R010_S,CELA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51797064,51797064,G,A,R010_S,SLC4A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52565080,52565080,G,A,R010_S,KRT80,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRT80,NM_001081492:c.*227C>T;NM_182507:c.*102C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52822324,52822324,G,A,R010_S,KRT75,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT75,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53450737,53450737,G,A,R010_S,MIR6757,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR6757,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53451543,53451543,C,T,R010_S,TNS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53684617,53684617,G,A,R010_S,ESPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54393963,54393963,C,T,R010_S,HOXC9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HOXC9,NM_006897:c.-10C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54520287,54520287,C,T,R010_S,LINC02381,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02381,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54795462,54795462,G,A,R010_S,LOC102724050,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724050,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54797913,54797913,C,T,R010_S,LOC102724050,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724050,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54914867,54914867,G,A,R010_S,NCKAP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54974614,54974614,C,T,R010_S,PPP1R1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,55359768,55359768,C,T,R010_S,TESPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TESPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56122036,56122036,C,T,R010_S,CD63,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56234362,56234362,C,T,R010_S,MMP19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56332896,56332896,C,T,R010_S,DGKA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56346301,56346301,C,T,R010_S,DGKA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56561833,56561833,C,T,R010_S,SMARCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56646285,56646285,C,T,R010_S,ANKRD52,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ANKRD52,NM_173595:exon13:c.1370+1G>A,NA,NA,.,.,D,.,.,.
chr12,56748487,56748487,T,C,R010_S,STAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56817546,56817546,C,T,R010_S,TIMELESS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMELESS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57081724,57081724,C,T,R010_S,PTGES3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGES3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57572834,57572834,G,A,R010_S,LRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57939785,57939785,G,A,R010_S,DCTN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58144318,58144318,C,T,R010_S,CDK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,65122724,65122724,C,T,R010_S,GNS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66638839,66638839,C,T,R010_S,IRAK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRAK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69202940,69202940,G,A,R010_S,MDM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,70189137,70189137,G,A,R010_S,RAB3IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3IP,NA,NA,NA,T,.,D,.,N,T
chr12,71148384,71148384,G,A,R010_S,PTPRR,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTPRR,NM_001207016:c.-11C>T;NM_130846:c.-411C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71928826,71928826,C,T,R010_S,LGR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72248568,72248568,C,T,R010_S,TBC1D15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,76769157,76769157,G,A,R010_S,OSBPL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBPL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80722541,80722541,C,T,R010_S,OTOGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88554007,88554007,G,A,R010_S,TMTC3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TMTC3,NM_001366583:exon3:UTR5;NM_181783:exon5:c.624+1G>A;NM_001366580:exon4:c.357+1G>A;NM_001366574:exon5:c.444+1G>A;NM_001366579:exon4:c.405+1G>A,NA,NA,.,.,D,.,.,.
chr12,92818749,92818749,G,A,R010_S,CLLU1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CLLU1,NA,NA,NA,.,.,N,T,D,T
chr12,93792501,93792501,G,A,R010_S,NUDT4P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NUDT4P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96386457,96386457,C,T,R010_S,HAL,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,HAL,NM_001258334:exon9:c.715+1G>A;NM_001258333:exon8:c.91+1G>A;NM_002108:exon9:c.715+1G>A,NA,NA,.,.,D,.,.,.
chr12,96387357,96387357,C,T,R010_S,HAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,98984942,98984942,G,A,R010_S,TMPO,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TMPO;SLC25A3,dist=40785;dist=2461,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101740399,101740399,C,T,R010_S,UTP20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102131727,102131727,C,T,R010_S,SYCP3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SYCP3,NM_153694:exon2:UTR5;NM_001177948:exon2:UTR5,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102308071,102308071,G,A,R010_S,DRAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104276440,104276440,C,T,R010_S,TTC41P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TTC41P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,108093410,108093410,G,A,R010_S,PWP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PWP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109372443,109372443,G,A,R010_S,SVOP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVOP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109520576,109520576,C,T,R010_S,USP30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109696007,109696007,C,T,R010_S,ACACB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109696014,109696014,G,A,R010_S,ACACB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110383233,110383233,G,A,R010_S,GIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110511169,110511169,G,A,R010_S,C12orf76,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,C12orf76;IFT81,dist=5669;dist=50993,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110891007,110891007,C,T,R010_S,GPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110906246,110906246,G,A,R010_S,GPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111350830,111350830,G,A,R010_S,MYL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112681612,112681612,G,A,R010_S,HECTD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113541608,113541608,C,T,R010_S,RASAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113541913,113541913,G,A,R010_S,RASAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113550132,113550132,G,A,R010_S,RASAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113603566,113603566,C,T,R010_S,DDX54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113605811,113605811,G,A,R010_S,DDX54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113866034,113866034,G,A,R010_S,SDSL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113906911,113906911,G,A,R010_S,LHX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LHX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117013726,117013726,C,T,R010_S,MAP1LC3B2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MAP1LC3B2,NM_001085481:c.-22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117685072,117685072,C,T,R010_S,NOS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,118490004,118490004,C,T,R010_S,WSB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WSB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120067724,120067724,G,A,R010_S,TMEM233,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM233,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120568901,120568901,C,T,R010_S,GCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121097781,121097781,G,A,R010_S,CABP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CABP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121176772,121176772,G,A,R010_S,ACADS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACADS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121177000,121177000,G,A,R010_S,ACADS,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ACADS,NM_000017:exon9:c.1086+1G>A;NM_001302554:exon9:c.1074+1G>A,NA,NA,.,.,D,.,.,.
chr12,121177044,121177044,C,T,R010_S,ACADS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACADS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121458353,121458353,C,T,R010_S,OASL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OASL,NM_001261825:c.*11G>A;NM_003733:c.*11G>A;NM_198213:c.*546G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121766360,121766360,C,T,R010_S,ANAPC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANAPC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121879047,121879047,G,A,R010_S,KDM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121879948,121879948,G,A,R010_S,KDM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121880777,121880777,G,A,R010_S,KDM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122231182,122231182,C,T,R010_S,RHOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122242905,122242905,C,T,R010_S,SETD1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122296562,122296562,C,T,R010_S,HPD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122473208,122473208,C,T,R010_S,BCL7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122670700,122670700,C,T,R010_S,LRRC43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123332452,123332452,C,T,R010_S,HIP1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123342800,123342800,G,A,R010_S,HIP1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123352183,123352183,G,A,R010_S,VPS37B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS37B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123461124,123461124,G,A,R010_S,OGFOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGFOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123485776,123485776,C,T,R010_S,PITPNM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123490103,123490103,C,T,R010_S,PITPNM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124815568,124815568,C,A,R010_S,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124819567,124819567,G,A,R010_S,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124821798,124821798,C,T,R010_S,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124838942,124838942,C,T,R010_S,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,126929484,126929484,C,T,R010_S,LINC02347,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC02347,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,126929612,126929612,G,A,R010_S,LINC02347,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02347;LINC02825,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,130915982,130915982,C,T,R010_S,RIMBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132335451,132335451,C,T,R010_S,MMP17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132393783,132393783,G,A,R010_S,ULK1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ULK1,NM_003565:exon8:c.666+1G>A,NA,NA,.,.,D,.,.,.
chr12,132467065,132467065,G,A,R010_S,EP400,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EP400,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133158449,133158449,G,A,R010_S,FBRSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBRSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133354198,133354198,C,T,R010_S,GOLGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133768600,133768600,G,A,R010_S,ZNF268,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF268,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,20438515,20438515,C,T,R010_S,ZMYM5,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ZMYM5,dist=726,NA,NA,NA,NA,NA,NA,NA,NA
chr13,20608375,20608375,G,A,R010_S,ZMYM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,20660212,20660212,A,G,R010_S,ZMYM2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZMYM2,NM_001353159:c.*58A>G;NM_001353164:c.*58A>G;NM_001353157:c.*58A>G;NM_001353163:c.*58A>G;NM_197968:c.*58A>G;NM_001190965:c.*58A>G;NM_003453:c.*58A>G;NM_001190964:c.*58A>G;NM_001353162:c.*58A>G;NM_001353161:c.*58A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21978399,21978399,C,T,R010_S,ZDHHC20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,31903816,31903816,C,T,R010_S,B3GLCT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,B3GLCT,NM_194318:c.*11C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr13,32861967,32861967,C,T,R010_S,FRY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,37014085,37014085,G,A,R010_S,CCNA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46142433,46142433,C,T,R010_S,ERICH6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERICH6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,48523793,48523793,C,T,R010_S,SUCLA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUCLA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,73317784,73317784,G,A,R010_S,BORA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BORA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95815335,95815335,C,T,R010_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95863162,95863162,C,T,R010_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95900107,95900107,C,T,R010_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,96270301,96270301,G,A,R010_S,DZIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DZIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,98043745,98043745,G,A,R010_S,MBNL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MBNL2,NM_001306070:c.*42G>A;NM_207304:c.*42G>A;NM_144778:c.*155G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99374036,99374036,C,T,R010_S,SLC15A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC15A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,100638309,100638309,C,T,R010_S,ZIC2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZIC2,NM_007129:c.*373C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr13,101294662,101294662,C,T,R010_S,TMTC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMTC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,101318236,101318236,C,T,R010_S,TMTC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMTC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,101707643,101707643,C,T,R010_S,NALCN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,NALCN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,103501693,103501693,C,T,R010_S,BIVM-ERCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIVM-ERCC5;ERCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,103510624,103510624,G,A,R010_S,BIVM-ERCC5,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,BIVM-ERCC5;ERCC5,NM_001204425:exon14:c.1891-1G>A;NM_000123:exon6:c.529-1G>A,NA,NA,.,.,D,.,.,.
chr13,108922222,108922222,C,T,R010_S,TNFSF13B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TNFSF13B,NM_006573:c.-22C>T;NM_001145645:c.-22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr13,109562501,109562501,G,A,R010_S,MYO16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111138227,111138227,C,T,R010_S,COL4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111145709,111145709,C,T,R010_S,COL4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113460718,113460718,C,T,R010_S,ATP11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113514737,113514737,C,T,R010_S,ATP11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113742122,113742122,C,T,R010_S,MCF2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCF2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20847078,20847078,C,T,R010_S,TEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20926688,20926688,G,A,R010_S,PIP4P1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PIP4P1,NM_001100814:c.*30C>T;NM_144568:c.*30C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21570467,21570467,G,A,R010_S,TMEM253,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM253;ZNF219,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21785730,21785730,G,A,R010_S,RPGRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPGRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21811161,21811161,C,T,R010_S,RPGRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPGRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21896423,21896423,C,T,R010_S,CHD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22315345,22315345,C,T,R010_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=176113;dist=532463,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22591456,22591456,G,A,R010_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=452224;dist=256352,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22615988,22615988,G,A,R010_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=476756;dist=231820,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22675511,22675511,C,T,R010_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=536279;dist=172297,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22749246,22749246,G,A,R010_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=610014;dist=98562,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23002509,23002509,G,A,R010_S,LOC105370401,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC105370401;LINC02332,dist=50561;dist=22696,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23058105,23058105,G,A,R010_S,DAD1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DAD1,NM_001344:c.-42C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23415924,23415924,G,A,R010_S,LOC101926933,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101926933,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23573741,23573741,G,A,R010_S,LMLN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23816152,23816152,G,A,R010_S,SLC22A17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23851329,23851329,G,A,R010_S,MYH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23889521,23889521,C,T,R010_S,MYH7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23946629,23946629,G,A,R010_S,NGDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NGDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24033484,24033484,G,A,R010_S,LOC102724814,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724814,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24035411,24035411,G,A,R010_S,LOC102724814,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC102724814,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24526123,24526123,G,A,R010_S,CARMIL3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CARMIL3,NM_138360:exon13:c.953-1G>A,NA,NA,.,.,D,.,.,.
chr14,24528064,24528064,G,A,R010_S,CARMIL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARMIL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24531809,24531809,G,A,R010_S,CARMIL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARMIL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24587378,24587378,G,A,R010_S,DCAF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24610263,24610263,G,A,R010_S,EMC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24610686,24610686,C,T,R010_S,EMC9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EMC9,NM_001346875:c.-1810G>A;NM_001346877:c.-1810G>A;NM_016049:c.-173G>A;NM_001346876:c.-1810G>A;NM_001346874:c.-1810G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24646325,24646325,C,T,R010_S,REC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24735529,24735529,C,T,R010_S,RABGGTA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABGGTA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,28734144,28734144,C,T,R010_S,LOC728755,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC728755;FOXG1-AS1,dist=591717;dist=460304,NA,NA,NA,NA,NA,NA,NA,NA
chr14,29261367,29261367,C,T,R010_S,LINC01551,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01551,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31364118,31364118,G,A,R010_S,STRN3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STRN3,NM_014574:c.*499C>T;NM_001083893:c.*499C>T,NA,NA,.,.,D,.,.,.
chr14,34419959,34419959,C,T,R010_S,EGLN3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EGLN3,NM_001308103:c.-1G>A;NM_022073:c.-1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35073233,35073233,C,T,R010_S,SNX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35488029,35488029,G,A,R010_S,SRP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35515564,35515564,C,T,R010_S,FAM177A1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM177A1,NM_173607:c.-106C>T;NM_001289022:c.-175C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36005184,36005184,G,A,R010_S,INSM2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,INSM2,NM_032594:c.*25G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36295712,36295712,G,A,R010_S,BRMS1L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,BRMS1L,NM_032352:c.-11G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36986416,36986416,G,A,R010_S,SFTA3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SFTA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,45654411,45654411,C,T,R010_S,FANCM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50856967,50856967,C,T,R010_S,CDKL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50896027,50896027,C,T,R010_S,MAP4K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51338892,51338892,G,A,R010_S,ABHD12B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABHD12B,NM_001206673:c.-1G>A;NM_181533:c.-6660G>A;NM_181814:c.-1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51411185,51411185,G,A,R010_S,PYGL,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PYGL,NM_001163940:c.-64C>T;NM_002863:c.-64C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,52480873,52480873,C,T,R010_S,NID2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NID2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,52782120,52782120,C,T,R010_S,PTGER2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTGER2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,52949031,52949031,C,T,R010_S,TXNDC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53618967,53618967,C,T,R010_S,DDHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,55907072,55907072,G,A,R010_S,TBPL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBPL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64716425,64716425,G,A,R010_S,ESR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65494115,65494115,G,A,R010_S,CHURC1-FNTB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHURC1-FNTB;FNTB;MAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,67859344,67859344,C,T,R010_S,PLEK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,68054053,68054053,G,A,R010_S,PLEKHH1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLEKHH1,NM_020715:c.*101G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69345568,69345568,G,A,R010_S,ACTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,70513111,70513111,C,T,R010_S,SLC8A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC8A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,70883519,70883519,C,T,R010_S,SYNJ2BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNJ2BP;SYNJ2BP-COX16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73006679,73006679,G,A,R010_S,RGS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74533371,74533371,C,T,R010_S,ALDH6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74759636,74759636,C,T,R010_S,ABCD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74762550,74762550,G,A,R010_S,ABCD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,78353333,78353333,C,T,R010_S,ADCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,81954318,81954318,C,T,R010_S,SEL1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEL1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88970852,88970852,C,T,R010_S,PTPN21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89105322,89105322,C,T,R010_S,EML5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89110698,89110698,C,T,R010_S,EML5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91931837,91931837,C,T,R010_S,PPP4R3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP4R3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93678344,93678344,C,T,R010_S,UBR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94492709,94492709,C,T,R010_S,OTUB2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OTUB2,NM_023112:c.-175C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94955914,94955914,C,T,R010_S,SERPINA12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINA12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95054324,95054324,G,A,R010_S,SERPINA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95932262,95932262,C,T,R010_S,SYNE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96758048,96758048,C,T,R010_S,ATG2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96807805,96807805,G,A,R010_S,ATG2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100192631,100192631,C,T,R010_S,CYP46A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP46A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100772515,100772515,C,T,R010_S,SLC25A29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101335493,101335493,G,A,R010_S,MIR493,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR493,dist=8,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102024023,102024023,G,A,R010_S,DIO3OS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DIO3OS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102505905,102505905,C,T,R010_S,DYNC1H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103986957,103986957,C,T,R010_S,CKB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104559199,104559199,C,T,R010_S,ASPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105054673,105054673,C,T,R010_S,C14orf180,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C14orf180,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105225590,105225590,C,T,R010_S,SIVA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIVA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105268849,105268849,G,A,R010_S,ZBTB42,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB42,NM_001370342:c.*46G>A;NM_001137601:c.*46G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105957464,105957464,G,A,R010_S,TEDC1,RNA,NA,NA,NA,NA,SNP,SNVindel,exonic,TEDC1;TEDC1,NM_001134877:exon2:c.24+1G>A,nonsynonymous SNV,TEDC1:NM_001198983:exon2:c.G25A:p.V9I,T,.,D,.,N,T
chr14,106303439,106303439,G,A,R010_S,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=164295;dist=20854,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106330552,106330552,C,T,R010_S,MIR4539,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4539;FAM30A,dist=3968;dist=53286,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106382539,106382539,G,A,R010_S,MIR4539,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4539;FAM30A,dist=55955;dist=1299,NA,NA,NA,NA,NA,NA,NA,NA
chr14,107034768,107034768,G,A,R010_S,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=83239;dist=224332,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22333141,22333141,C,T,R010_S,LINC02203,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02203;LOC101927079,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23012278,23012278,C,T,R010_S,NIPA2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NIPA2,NM_001184889:exon9:c.448+1G>A;NM_001008860:exon6:c.448+1G>A;NM_001008892:exon5:c.448+1G>A;NM_001008894:exon4:c.391+1G>A;NM_001184888:exon5:c.391+1G>A;NM_030922:exon7:c.448+1G>A,NA,NA,.,.,.,.,.,.
chr15,25328530,25328530,C,T,R010_S,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,26874298,26874298,G,A,R010_S,GABRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,31293962,31293962,G,A,R010_S,TRPM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRPM1,NM_001252020:c.*63C>T;NM_002420:c.*63C>T;NM_001252024:c.*63C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,33952020,33952020,C,T,R010_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34032271,34032271,G,A,R010_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34132981,34132981,C,T,R010_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34786846,34786846,G,A,R010_S,GOLGA8A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GOLGA8A;GOLGA8B,dist=57179;dist=30638,NA,NA,NA,NA,NA,NA,NA,NA
chr15,36906343,36906343,G,A,R010_S,C15orf41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C15orf41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40226396,40226396,C,T,R010_S,EIF2AK4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EIF2AK4,NM_001013703:c.-1C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40303417,40303417,G,A,R010_S,EIF2AK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2AK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40585646,40585646,G,A,R010_S,PLCB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40596368,40596368,C,T,R010_S,PLCB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42165911,42165911,C,T,R010_S,SPTBN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42437768,42437768,C,T,R010_S,PLA2G4F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G4F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42635170,42635170,G,A,R010_S,GANC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GANC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42691644,42691644,C,T,R010_S,CAPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43290569,43290569,G,A,R010_S,UBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43572269,43572269,C,T,R010_S,TGM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43893832,43893832,C,T,R010_S,STRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43992691,43992691,C,T,R010_S,STRCP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,STRCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44091340,44091340,G,A,R010_S,SERF2-C15ORF63,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SERF2-C15ORF63,NA,NA,NA,.,.,N,.,.,.
chr15,44486963,44486963,G,A,R010_S,FRMD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44816415,44816415,G,A,R010_S,CTDSPL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CTDSPL2,NM_016396:c.*43G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44914275,44914275,G,A,R010_S,SPG11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPG11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44960731,44960731,C,T,R010_S,PATL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45028809,45028809,C,T,R010_S,TRIM69,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TRIM69,NM_001301146:c.-94C>T;NM_080745:c.-94C>T;NM_182985:c.-94C>T;NM_001301144:c.-22043C>T;NM_001301145:c.-22043C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45463948,45463948,C,T,R010_S,SHF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45470513,45470513,G,A,R010_S,SHF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50549832,50549832,G,A,R010_S,HDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,51039842,51039842,C,T,R010_S,SPPL2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPPL2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52564112,52564112,G,A,R010_S,MYO5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,53991919,53991919,G,A,R010_S,WDR72,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR72,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,57976524,57976524,G,A,R010_S,GCOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCOM1;MYZAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,58285122,58285122,C,T,R010_S,ALDH1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,58287197,58287197,C,T,R010_S,ALDH1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,60884581,60884581,C,T,R010_S,RORA-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RORA-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62540595,62540595,C,T,R010_S,GOLGA2P11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_splicing,GOLGA2P11,NR_136885:exon2:c.170+1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64015576,64015576,C,T,R010_S,HERC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64222702,64222702,G,A,R010_S,LOC101928988,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928988,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65681843,65681843,C,T,R010_S,IGDCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGDCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65739102,65739102,G,A,R010_S,DPP8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DPP8,NM_130434:c.*120C>T;NM_197960:c.*120C>T;NM_017743:c.*120C>T;NM_197961:c.*120C>T;NM_001320875:c.*120C>T;NM_001320876:c.*120C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66208904,66208904,G,A,R010_S,MEGF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66616069,66616069,C,T,R010_S,DIS3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIS3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66977695,66977695,G,A,R010_S,LINC01169,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01169,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,67430255,67430255,G,A,R010_S,SMAD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMAD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,67879055,67879055,C,T,R010_S,MAP2K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,67934778,67934778,G,A,R010_S,MAP2K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,68122422,68122422,C,T,R010_S,SKOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,68479875,68479875,C,T,R010_S,PIAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,68497495,68497495,G,A,R010_S,CALML4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALML4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69320735,69320735,G,A,R010_S,NOX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69732229,69732229,G,A,R010_S,KIF23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69745392,69745392,C,T,R010_S,RPLP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPLP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72545846,72545846,C,T,R010_S,PARP6,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PARP6,NM_001323515:exon16:c.1132-1G>A;NM_020214:exon16:c.1192-1G>A;NM_001323523:exon16:c.1132-1G>A;NM_001323532:exon16:c.1192-1G>A;NM_001323524:exon16:c.1132-1G>A;NM_001323525:exon16:c.1192-1G>A;NM_001323526:exon16:c.1132-1G>A;NM_001323528:exon16:c.1192-1G>A;NM_001323530:exon16:c.1132-1G>A;NM_001323519:exon16:c.1132-1G>A;NM_001323521:exon16:c.1132-1G>A;NM_001323522:exon16:c.1192-1G>A;NM_001323516:exon16:c.1132-1G>A;NM_001323531:exon16:c.1192-1G>A,NA,NA,.,.,D,.,.,.
chr15,74487915,74487915,G,A,R010_S,STRA6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STRA6,NM_001142620:c.*28C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74626345,74626345,G,A,R010_S,CCDC33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74709660,74709660,C,T,R010_S,SEMA7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75631063,75631063,C,T,R010_S,COMMD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMMD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75645867,75645867,G,A,R010_S,NEIL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEIL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75659049,75659049,C,T,R010_S,MAN2C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN2C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75916972,75916972,C,T,R010_S,SNUPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNUPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75971162,75971162,G,A,R010_S,CSPG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,76566891,76566891,G,A,R010_S,ETFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,77451078,77451078,G,A,R010_S,PEAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78449278,78449278,C,T,R010_S,IDH3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDH3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81239493,81239493,G,A,R010_S,CEMIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEMIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81627329,81627329,G,A,R010_S,TMC3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMC3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,83788305,83788305,G,A,R010_S,TM6SF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM6SF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,83926889,83926889,G,A,R010_S,BNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84561641,84561641,G,A,R010_S,ADAMTSL3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ADAMTSL3,NM_207517:exon13:c.1467+1G>A;NM_001301110:exon13:c.1467+1G>A,NA,NA,.,.,D,.,.,.
chr15,85341797,85341797,T,C,R010_S,ZNF592,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF592,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85447512,85447512,C,T,R010_S,SLC28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85469878,85469878,G,A,R010_S,SLC28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90020149,90020149,G,A,R010_S,RHCG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHCG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90432254,90432254,G,A,R010_S,AP3S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3S2;ARPIN-AP3S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90627490,90627490,G,A,R010_S,IDH2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IDH2,NM_001290114:c.*8C>T;NM_002168:c.*8C>T;NM_001289910:c.*8C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90772750,90772750,C,T,R010_S,SEMA4B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEMA4B,NM_001324030:c.*875C>T;NM_001324029:c.*875C>T;NM_020210:c.*875C>T;NM_001324031:c.*875C>T;NM_001324034:c.*875C>T;NM_198925:c.*875C>T;NM_001324032:c.*1599C>T;NM_001324033:c.*875C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90794719,90794719,G,A,R010_S,TTLL13P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TTLL13P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91029120,91029120,G,A,R010_S,IQGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91141530,91141530,G,A,R010_S,CRTC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRTC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91433200,91433200,G,A,R010_S,FES,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FES,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91557011,91557011,C,T,R010_S,VPS33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,93043693,93043693,C,T,R010_S,C15orf32,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C15orf32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,99327565,99327565,G,A,R010_S,IGF1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGF1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101972329,101972329,G,A,R010_S,PCSK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,337279,337279,G,A,R010_S,AXIN1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,AXIN1;PDIA2,dist=161,NA,NA,NA,NA,NA,NA,NA,NA
chr16,425267,425267,G,A,R010_S,TMEM8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,617729,617729,C,T,R010_S,NHLRC4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NHLRC4,NM_001301159:c.-319C>T;NM_176677:c.-319C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,629217,629217,C,T,R010_S,PIGQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,734522,734522,G,A,R010_S,JMJD8,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,JMJD8;WDR24,dist=188;dist=100,NA,NA,NA,NA,NA,NA,NA,NA
chr16,772688,772688,C,T,R010_S,CCDC78,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCDC78,NM_001031737:c.*82G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,775752,775752,C,T,R010_S,CCDC78,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,776204,776204,G,A,R010_S,CCDC78,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,782384,782384,G,A,R010_S,CIAO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIAO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,784495,784495,C,T,R010_S,CIAO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIAO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,822948,822948,G,A,R010_S,MIR662,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR662;RPUSD1,dist=2671;dist=12026,NA,NA,D,N,N,T,D,T
chr16,1265118,1265118,C,T,R010_S,CACNA1H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1292300,1292300,C,T,R010_S,TPSAB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TPSAB1,NM_003294:c.*59C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1326772,1326772,G,A,R010_S,TPSD1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TPSD1;UBE2I,dist=17763;dist=32381,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1391786,1391786,C,T,R010_S,BAIAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1399885,1399885,C,T,R010_S,TSR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1433538,1433538,G,A,R010_S,UNKL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNKL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1507117,1507117,G,A,R010_S,CLCN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1557434,1557434,G,A,R010_S,TELO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TELO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1821012,1821012,C,T,R010_S,NME3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1822777,1822777,G,A,R010_S,MRPS34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPS34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2042801,2042801,G,A,R010_S,SYNGR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNGR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2048904,2048904,C,T,R010_S,ZNF598,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF598,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2106262,2106262,C,T,R010_S,TSC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2234880,2234880,G,A,R010_S,CASKIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASKIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2256259,2256259,C,T,R010_S,MLST8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLST8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2436238,2436238,C,T,R010_S,ABCA17P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ABCA17P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2507067,2507067,G,A,R010_S,CCNF,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCNF,NM_001761:c.*46G>A;NM_001323538:c.*46G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2511834,2511834,G,A,R010_S,TEDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2889701,2889701,G,A,R010_S,PRSS30P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRSS30P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3021462,3021462,G,A,R010_S,PAQR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAQR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3074423,3074423,G,A,R010_S,THOC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3078060,3078060,G,A,R010_S,BICDL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BICDL2,NM_001369667:c.*47C>T;NM_001103175:c.*47C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3086283,3086283,C,T,R010_S,LOC100128770,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100128770,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3188914,3188914,C,T,R010_S,ZNF213,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF213,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3535543,3535543,C,T,R010_S,NAA60,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NAA60,NM_001317093:c.*283C>T;NM_001083601:c.*283C>T;NM_001317095:c.*305C>T;NM_001317096:c.*234C>T;NM_001083600:c.*283C>T;NM_001317097:c.*196C>T;NM_001317098:c.*174C>T;NM_024845:c.*305C>T;NM_001317094:c.*688C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4257695,4257695,C,T,R010_S,SRL,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SRL,NM_001323668:c.-3125G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4391363,4391363,C,T,R010_S,CORO7-PAM16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CORO7-PAM16;PAM16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4624700,4624700,C,T,R010_S,C16orf96,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4636940,4636940,C,T,R010_S,C16orf96,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4744322,4744322,C,T,R010_S,NUDT16L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDT16L1,NA,NA,NA,.,.,N,.,.,T
chr16,4847896,4847896,G,A,R010_S,ROGDI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROGDI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4871539,4871539,C,T,R010_S,GLYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4896276,4896276,C,T,R010_S,GLYR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,8866623,8866623,C,T,R010_S,ABAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,8988561,8988561,G,A,R010_S,USP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11003064,11003064,G,A,R010_S,CIITA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIITA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11017014,11017014,G,A,R010_S,CIITA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIITA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11785090,11785090,C,T,R010_S,TXNDC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,12220389,12220389,C,T,R010_S,SNX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14031574,14031574,G,A,R010_S,ERCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15082035,15082035,G,A,R010_S,PDXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15082305,15082305,G,A,R010_S,PDXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15661835,15661835,C,T,R010_S,BMERB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMERB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15797764,15797764,G,A,R010_S,MYH11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYH11,NM_002474:c.*84C>T;NM_022844:c.*225C>T;NM_001040114:c.*84C>T;NM_001040113:c.*225C>T,NA,NA,.,.,N,.,.,T
chr16,21033253,21033253,C,T,R010_S,DNAH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21069368,21069368,C,T,R010_S,DNAH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21652717,21652717,C,T,R010_S,IGSF6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IGSF6,NM_005849:c.*138G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22161035,22161035,C,T,R010_S,VWA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22277859,22277859,C,T,R010_S,EEF2K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEF2K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23498119,23498119,G,A,R010_S,GGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23535860,23535860,C,T,R010_S,EARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,25043184,25043184,C,T,R010_S,LOC554206,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC554206,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27499822,27499822,G,A,R010_S,GTF3C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27777820,27777820,C,T,R010_S,KIAA0556,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0556,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27788909,27788909,G,A,R010_S,KIAA0556,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0556,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28332282,28332282,C,T,R010_S,SBK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SBK1,NM_001024401:c.*40C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28857611,28857611,G,A,R010_S,TUFM,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TUFM,NM_003321:c.-21C>T;NM_001365360:c.-21C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28882995,28882995,G,A,R010_S,SH2B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28892129,28892129,G,A,R010_S,ATP2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28905577,28905577,G,A,R010_S,ATP2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28922532,28922532,C,T,R010_S,RABEP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABEP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28944441,28944441,G,A,R010_S,CD19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28993151,28993151,G,A,R010_S,SPNS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPNS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29755495,29755495,G,A,R010_S,C16orf54,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C16orf54,NM_175900:c.*103C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29791758,29791758,G,A,R010_S,ZG16,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZG16,NM_152338:c.*18G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29876012,29876012,C,T,R010_S,CDIPTOSP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CDIPTOSP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29922549,29922549,C,T,R010_S,KCTD13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCTD13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30017904,30017904,C,T,R010_S,DOC2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOC2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30100161,30100161,C,T,R010_S,TBX6,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TBX6,NM_004608:exon5:c.622-1G>A,NA,NA,.,.,D,.,.,.
chr16,30376408,30376408,C,T,R010_S,TBC1D10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D10B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30389576,30389576,G,A,R010_S,SEPTIN1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEPTIN1,NM_052838:c.*179C>T;NM_001365977:c.*179C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30392588,30392588,G,A,R010_S,SEPTIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPTIN1;ZNF48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30486941,30486941,G,A,R010_S,ITGAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30615401,30615401,C,T,R010_S,ZNF689,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF689,NM_138447:c.*184G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30886448,30886448,G,A,R010_S,BCL7C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL7C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30904675,30904675,G,A,R010_S,MIR762HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR762HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30976914,30976914,C,T,R010_S,SETD1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31044976,31044976,G,A,R010_S,STX4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STX4,NM_001272095:c.-809G>A;NM_004604:c.-151G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31102722,31102722,C,T,R010_S,VKORC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VKORC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31106931,31106931,C,T,R010_S,VKORC1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,VKORC1,dist=611,NA,NA,D,.,N,.,N,T
chr16,31405497,31405497,G,A,R010_S,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31508305,31508305,G,A,R010_S,C16orf58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31885260,31885260,G,A,R010_S,ZNF267,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF267,NM_003414:c.-28G>A;NM_001265588:c.-10652G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31973434,31973434,G,A,R010_S,ZNF267,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF267;LOC102723753,dist=44756;dist=189999,NA,NA,NA,NA,NA,NA,NA,NA
chr16,33738642,33738642,G,A,R010_S,ENPP7P13,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ENPP7P13;MIR9901,dist=151900;dist=227403,NA,NA,NA,NA,NA,NA,NA,NA
chr16,34648814,34648814,G,A,R010_S,LINC01566,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01566;FRG2DP,dist=22730;dist=62971,NA,NA,NA,NA,NA,NA,NA,NA
chr16,46597915,46597915,C,T,R010_S,ANKRD26P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ANKRD26P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,46638082,46638082,G,A,R010_S,SHCBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHCBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50102682,50102682,C,T,R010_S,HEATR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50138814,50138814,C,T,R010_S,HEATR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50763669,50763669,G,A,R010_S,NOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,53283756,53283756,G,A,R010_S,CHD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,54018914,54018914,C,T,R010_S,FTO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FTO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55530803,55530803,G,A,R010_S,MMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55571635,55571635,C,T,R010_S,LPCAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPCAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56389007,56389007,C,T,R010_S,GNAO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNAO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56997069,56997069,G,A,R010_S,CETP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CETP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57250808,57250808,C,T,R010_S,RSPRY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPRY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57438679,57438679,G,A,R010_S,CCL17,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCL17,NM_002987:c.-9166G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57509265,57509265,C,T,R010_S,DOK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57637277,57637277,G,A,R010_S,ADGRG5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADGRG5;ADGRG1,dist=26177;dist=16373,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57712276,57712276,G,A,R010_S,ADGRG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57760868,57760868,G,A,R010_S,DRC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57771037,57771037,G,A,R010_S,KATNB1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KATNB1,NM_005886:c.-119G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57789863,57789863,G,A,R010_S,KATNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KATNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57896690,57896690,C,T,R010_S,LOC388282,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC388282;CNGB1,dist=45859;dist=19554,NA,NA,.,.,.,.,.,.
chr16,58036303,58036303,G,A,R010_S,USB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58060216,58060216,C,T,R010_S,MMP15,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MMP15,NM_002428:c.-39C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58079381,58079381,G,A,R010_S,MMP15,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MMP15,NM_002428:c.*31G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58608495,58608495,C,T,R010_S,CNOT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58712216,58712216,C,T,R010_S,SLC38A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,61761216,61761216,C,T,R010_S,CDH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66600996,66600996,C,T,R010_S,CKLF-CMTM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKLF-CMTM1;CMTM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66976206,66976206,G,A,R010_S,CES2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CES2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67006752,67006752,C,T,R010_S,CES3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CES3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67037104,67037104,C,T,R010_S,CES4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CES4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67179219,67179219,G,A,R010_S,C16orf70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67212751,67212751,C,T,R010_S,KIAA0895L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0895L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67231888,67231888,C,T,R010_S,E2F4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,E2F4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67262198,67262198,G,A,R010_S,TMEM208,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM208,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67281414,67281414,C,T,R010_S,FHOD1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,FHOD1,dist=30,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67320126,67320126,C,T,R010_S,PLEKHG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67424306,67424306,G,A,R010_S,TPPP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPPP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67864116,67864116,G,A,R010_S,CENPT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67964081,67964081,G,A,R010_S,CTRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68215335,68215335,C,T,R010_S,NFATC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFATC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68321779,68321779,G,A,R010_S,SLC7A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69703874,69703874,C,T,R010_S,NFAT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFAT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69718981,69718981,G,A,R010_S,NFAT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFAT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70299580,70299580,G,A,R010_S,AARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70599516,70599516,C,T,R010_S,SF3B3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF3B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70808118,70808118,C,T,R010_S,VAC14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAC14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70884625,70884625,G,A,R010_S,HYDIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71054241,71054241,G,A,R010_S,HYDIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71678721,71678721,G,A,R010_S,PHLPP2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,PHLPP2,dist=108,NA,NA,NA,NA,NA,NA,NA,NA
chr16,73127156,73127156,C,T,R010_S,HCCAT5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HCCAT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74709085,74709085,G,A,R010_S,MLKL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLKL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74750219,74750219,G,A,R010_S,FA2H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FA2H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74920147,74920147,C,T,R010_S,WDR59,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR59,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74983709,74983709,G,A,R010_S,WDR59,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR59,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75034025,75034025,G,A,R010_S,ZNRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75281884,75281884,G,A,R010_S,BCAR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75539269,75539269,C,T,R010_S,CHST6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CHST6;CHST5,dist=9930;dist=23159,NA,NA,NA,NA,NA,NA,NA,NA
chr16,80574945,80574945,C,T,R010_S,LOC102724084,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724084,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81208075,81208075,C,T,R010_S,PKD1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,83991409,83991409,G,A,R010_S,OSGIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSGIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84024040,84024040,C,T,R010_S,NECAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84623938,84623938,G,A,R010_S,COTL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84691593,84691593,C,T,R010_S,KLHL36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,85010151,85010151,G,A,R010_S,ZDHHC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,85024250,85024250,G,A,R010_S,ZDHHC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,85839205,85839205,G,A,R010_S,COX4I1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX4I1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,86371320,86371320,G,A,R010_S,LINC00917,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00917,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,87782442,87782442,G,A,R010_S,KLHDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88038048,88038048,C,T,R010_S,BANP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BANP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88717140,88717140,C,T,R010_S,CYBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88780721,88780721,C,T,R010_S,CTU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88782692,88782692,G,A,R010_S,MIR4722,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4722,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88789191,88789191,G,A,R010_S,PIEZO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIEZO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88800244,88800244,C,T,R010_S,LOC100289580,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100289580,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88876254,88876254,G,A,R010_S,APRT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88893081,88893081,G,A,R010_S,GALNS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88926253,88926253,G,A,R010_S,TRAPPC2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89263823,89263823,G,A,R010_S,SLC22A31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89300005,89300005,C,T,R010_S,ZNF778,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF778,NM_182531:c.*5035C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89615666,89615666,C,T,R010_S,SPG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89649962,89649962,G,A,R010_S,CPNE7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89795607,89795607,C,T,R010_S,ZNF276,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF276,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89949656,89949656,G,A,R010_S,TCF25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89987054,89987054,G,A,R010_S,MC1R,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MC1R,NM_002386:c.*434G>A,NA,NA,T,N,N,T,N,T
chr16,90072731,90072731,G,A,R010_S,DBNDD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DBNDD1,NM_024043:c.*12C>T;NM_001288709:c.*12C>T;NM_001042610:c.*12C>T;NM_001288708:c.*12C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,904188,904188,C,T,R010_S,TIMM22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMM22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1380729,1380729,G,A,R010_S,MYO1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1411521,1411521,C,T,R010_S,INPP5K,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,INPP5K,NM_016532:exon6:c.555-1G>A;NM_001135642:exon8:c.327-1G>A;NM_130766:exon7:c.327-1G>A,NA,NA,.,.,D,.,.,.
chr17,1516420,1516420,C,T,R010_S,SLC43A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC43A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1559644,1559644,C,T,R010_S,PRPF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1936972,1936972,C,T,R010_S,DPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2276218,2276218,G,A,R010_S,SGSM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2884561,2884561,C,T,R010_S,RAP1GAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAP1GAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3214288,3214288,C,T,R010_S,OR3A4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OR3A4P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3643020,3643020,G,A,R010_S,ITGAE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3807140,3807140,G,A,R010_S,P2RX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P2RX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3926139,3926139,G,T,R010_S,ZZEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3926140,3926140,A,T,R010_S,ZZEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3955179,3955179,C,T,R010_S,ZZEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4007926,4007926,C,T,R010_S,ZZEF1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZZEF1,NM_015113:exon8:c.1573+1G>A,NA,NA,.,.,D,.,.,.
chr17,4072444,4072444,C,T,R010_S,ANKFY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKFY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4585875,4585875,G,A,R010_S,PELP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PELP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4619644,4619644,G,A,R010_S,ARRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4649313,4649313,C,T,R010_S,ZMYND15,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZMYND15,NM_001136046:c.*28C>T;NM_001267822:c.*28C>T;NM_032265:c.*28C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4685999,4685999,G,A,R010_S,TM4SF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM4SF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4692586,4692586,G,A,R010_S,GLTPD2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,GLTPD2,NM_001014985:exon2:c.171+1G>A,NA,NA,.,.,D,.,.,.
chr17,4711521,4711521,G,A,R010_S,PLD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4841629,4841629,C,T,R010_S,SLC25A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4863740,4863740,C,T,R010_S,SPAG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6353494,6353494,G,A,R010_S,PIMREG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIMREG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6361056,6361056,C,T,R010_S,PITPNM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6368113,6368113,G,A,R010_S,PITPNM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6373799,6373799,C,T,R010_S,PITPNM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6663111,6663111,G,A,R010_S,XAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6921079,6921079,C,T,R010_S,MIR497HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR497HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7096221,7096221,G,A,R010_S,DLG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7127639,7127639,G,A,R010_S,ACADVL,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ACADVL,NM_001270447:exon17:c.1602-1G>A;NM_001033859:exon15:c.1467-1G>A;NM_001270448:exon15:c.1305-1G>A;NM_000018:exon16:c.1533-1G>A,NA,NA,.,.,D,.,.,.
chr17,7131249,7131249,G,A,R010_S,DVL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DVL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7154635,7154635,C,T,R010_S,CTDNEP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CTDNEP1,NM_015343:c.-20G>A;NM_001143775:c.-20G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7218185,7218185,G,A,R010_S,GPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7239944,7239944,C,T,R010_S,ACAP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ACAP1,NM_014716:c.-110C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7292251,7292251,C,T,R010_S,TNK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7329175,7329175,G,A,R010_S,SPEM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7329463,7329463,C,T,R010_S,SPEM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7462899,7462899,C,T,R010_S,TNFSF12-TNFSF13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFSF12-TNFSF13;TNFSF13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7463572,7463572,G,A,R010_S,TNFSF12-TNFSF13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFSF12-TNFSF13;TNFSF13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7477751,7477751,G,A,R010_S,SENP3-EIF4A1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SENP3-EIF4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7495696,7495696,C,T,R010_S,FXR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7529723,7529723,G,A,R010_S,SAT2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SAT2,NM_001320847:c.*42C>T;NM_133491:c.*42C>T;NM_001320846:c.*42C>T;NM_001320845:c.*42C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7638036,7638036,C,T,R010_S,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7736286,7736286,G,A,R010_S,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7736901,7736901,C,T,R010_S,DNAH2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DNAH2,NM_020877:c.*50C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7756523,7756523,C,T,R010_S,KDM6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7827841,7827841,G,A,R010_S,KCNAB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNAB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8017779,8017779,C,T,R010_S,ALOXE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALOXE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8021904,8021904,G,A,R010_S,ALOXE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALOXE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8066229,8066229,G,A,R010_S,VAMP2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,VAMP2,NM_014232:c.-32C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8167522,8167522,G,A,R010_S,PFAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8195964,8195964,C,T,R010_S,SLC25A35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8370530,8370530,C,T,R010_S,NDEL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NDEL1,NM_001330129:c.*265C>T;NM_001025579:c.*275C>T;NM_030808:c.*189C>T,NA,NA,.,.,D,.,.,.
chr17,8397273,8397273,G,A,R010_S,MYH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9676056,9676056,G,A,R010_S,DHRS7C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS7C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9712304,9712304,C,T,R010_S,GSG1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSG1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9791130,9791130,G,A,R010_S,GLP2R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLP2R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10215191,10215191,G,A,R010_S,MYH13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10399516,10399516,G,A,R010_S,MYHAS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10551815,10551815,G,A,R010_S,MYH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12846987,12846987,G,A,R010_S,ARHGAP44,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ARHGAP44,NM_001321167:exon9:c.733+1G>A;NM_001321164:exon9:c.733+1G>A;NM_001321168:exon8:c.133+1G>A;NM_001321166:exon9:c.733+1G>A;NM_014859:exon9:c.733+1G>A,NA,NA,.,.,D,.,.,.
chr17,12898241,12898241,C,T,R010_S,ELAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15938078,15938078,C,T,R010_S,NCOR1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NCOR1,NM_006311:exon45:c.7135+1G>A;NM_001190440:exon44:c.6826+1G>A,NA,NA,.,.,D,.,.,.
chr17,16322620,16322620,G,A,R010_S,TRPV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16331796,16331796,G,A,R010_S,TRPV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16537841,16537841,C,T,R010_S,ZNF624,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF624,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16960949,16960949,G,A,R010_S,MPRIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPRIP,NA,NA,NA,.,.,N,.,.,.
chr17,17394849,17394849,G,A,R010_S,MED9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MED9,NM_018019:c.*40G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17720247,17720247,C,T,R010_S,SREBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SREBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17968448,17968448,G,A,R010_S,GID4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GID4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18141958,18141958,G,A,R010_S,LLGL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LLGL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18183978,18183978,G,A,R010_S,TOP3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOP3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18880006,18880006,C,T,R010_S,FAM83G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM83G;SLC5A10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18923258,18923258,C,T,R010_S,SLC5A10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19317256,19317256,C,T,R010_S,RNF112,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF112,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19317487,19317487,C,T,R010_S,RNF112,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF112,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19476385,19476385,G,A,R010_S,SLC47A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC47A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19827711,19827711,C,T,R010_S,AKAP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20217411,20217411,C,T,R010_S,SPECC1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SPECC1,NM_001243439:c.*33C>T;NM_001033553:c.*33C>T;NM_001033555:c.*33C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20493115,20493115,G,A,R010_S,CDRT15L2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CDRT15L2;LINC02088,dist=8891;dist=23176,NA,NA,NA,NA,NA,NA,NA,NA
chr17,25973662,25973662,G,A,R010_S,LGALS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26682975,26682975,C,T,R010_S,POLDIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLDIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26879093,26879093,G,A,R010_S,UNC119,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,UNC119,NM_001330166:c.-3435C>T,NA,NA,D,.,N,T,N,T
chr17,26906105,26906105,G,A,R010_S,SPAG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26941408,26941408,G,A,R010_S,SPAG5-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SPAG5-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27052451,27052451,C,T,R010_S,TLCD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLCD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27228478,27228478,C,T,R010_S,DHRS13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27448258,27448258,G,A,R010_S,MYO18A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO18A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27591501,27591501,C,T,R010_S,NUFIP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NUFIP2,NM_020772:c.*56G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27893018,27893018,C,T,R010_S,ABHD15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABHD15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28750497,28750497,C,T,R010_S,CPD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29679268,29679268,C,T,R010_S,NF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29684114,29684114,G,A,R010_S,NF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30368364,30368364,G,A,R010_S,SH3GL1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SH3GL1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30666808,30666808,G,A,R010_S,C17orf75,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C17orf75,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30816210,30816210,C,T,R010_S,CDK5R1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDK5R1,NM_003885:c.*648C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,31318893,31318893,G,A,R010_S,SPACA3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SPACA3,NM_173847:c.-64G>A;NM_001317226:c.-64G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33466436,33466436,C,T,R010_S,NLE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34062181,34062181,G,T,R010_S,RASL10B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RASL10B,NM_033315:c.-23G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34144887,34144887,G,A,R010_S,TAF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35311208,35311208,G,A,R010_S,AATF,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,AATF,NM_012138:exon4:c.832+1G>A,NA,NA,.,.,D,.,.,.
chr17,36357772,36357772,C,T,R010_S,LOC440434,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC440434,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36384898,36384898,C,T,R010_S,LOC440434,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC440434,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36551469,36551469,C,T,R010_S,SOCS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOCS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36619200,36619200,C,T,R010_S,ARHGAP23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36918630,36918630,G,A,R010_S,PSMB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37396257,37396257,G,A,R010_S,STAC2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,STAC2;FBXL20,dist=14059;dist=12659,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37417906,37417906,C,T,R010_S,FBXL20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37420375,37420375,G,A,R010_S,FBXL20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37778298,37778298,G,A,R010_S,NEUROD2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NEUROD2;PPP1R1B,dist=14125;dist=4907,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38184229,38184229,C,T,R010_S,MED24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38189544,38189544,C,T,R010_S,MED24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38189891,38189891,G,A,R010_S,MED24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38244492,38244492,C,T,R010_S,THRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38252922,38252922,C,T,R010_S,NR1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38349549,38349549,G,A,R010_S,RAPGEFL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEFL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38786466,38786466,G,A,R010_S,SMARCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39274661,39274661,C,T,R010_S,KRTAP4-11,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,KRTAP4-11;KRTAP4-8,dist=36,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39505589,39505589,C,T,R010_S,KRT33A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT33A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39594328,39594328,G,A,R010_S,KRT38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40034525,40034525,C,T,R010_S,ACLY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40095129,40095129,C,T,R010_S,TTC25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40278711,40278711,C,T,R010_S,RAB5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB5C,NA,NA,NA,.,.,N,.,.,.
chr17,40344880,40344880,G,A,R010_S,GHDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GHDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40345145,40345145,C,T,R010_S,GHDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GHDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40376893,40376893,G,A,R010_S,STAT5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40660497,40660497,C,T,R010_S,ATP6V0A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V0A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40734923,40734923,G,A,R010_S,RETREG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RETREG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40811590,40811590,C,T,R010_S,TUBG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40913724,40913724,G,A,R010_S,RAMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40989981,40989981,G,A,R010_S,PSME3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSME3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41341056,41341056,C,T,R010_S,NBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41354844,41354844,C,T,R010_S,NBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41835751,41835751,G,A,R010_S,SOST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41907237,41907237,G,A,R010_S,MPP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41931464,41931464,G,A,R010_S,CD300LG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD300LG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42232565,42232565,C,T,R010_S,C17orf53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C17orf53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42428178,42428178,G,A,R010_S,GRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42457732,42457732,C,T,R010_S,ITGA2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42501884,42501884,G,A,R010_S,GPATCH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42809459,42809459,C,T,R010_S,DBF4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBF4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42988917,42988917,C,T,R010_S,GFAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43191531,43191531,C,T,R010_S,PLCD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43216533,43216533,G,A,R010_S,ACBD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACBD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45219849,45219849,G,A,R010_S,CDC27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47038150,47038150,C,T,R010_S,GIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47121046,47121046,C,T,R010_S,IGF2BP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGF2BP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47123189,47123189,C,T,R010_S,IGF2BP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGF2BP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47659348,47659348,C,T,R010_S,NXPH3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NXPH3,NM_007225:c.*2686C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47904218,47904218,G,A,R010_S,KAT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47917133,47917133,C,T,R010_S,TAC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48156663,48156663,G,A,R010_S,ITGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48216768,48216768,C,T,R010_S,PPP1R9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48258196,48258196,G,A,R010_S,SGCA,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SGCA;COL1A1,dist=4907;dist=3261,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48265408,48265408,C,T,R010_S,COL1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48432458,48432458,C,T,R010_S,XYLT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XYLT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48543266,48543266,G,A,R010_S,ACSF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSF2;CHAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48551723,48551723,C,T,R010_S,ACSF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48624546,48624546,C,T,R010_S,SPATA20,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SPATA20,NM_001258372:c.-24C>T;NM_001258373:c.-1153C>T;NM_022827:c.-24C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48653754,48653754,C,T,R010_S,CACNA1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,54968194,54968194,G,A,R010_S,TRIM25,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRIM25,NM_005082:c.*867C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56382673,56382673,G,A,R010_S,TSPOAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPOAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56382678,56382678,C,T,R010_S,TSPOAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPOAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56565744,56565744,C,T,R010_S,HSF5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HSF5,NM_001080439:c.-109G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57215063,57215063,C,T,R010_S,SKA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57719411,57719411,G,A,R010_S,CLTC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58066581,58066581,G,A,R010_S,RNFT1-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RNFT1-DT;TBC1D3P1-DHX40P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58179627,58179627,C,T,R010_S,LOC653653,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC653653,NA,NA,NA,.,.,.,.,.,.
chr17,59477953,59477953,G,A,R010_S,TBX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60005384,60005384,G,A,R010_S,INTS2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,INTS2,dist=41,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60024393,60024393,G,A,R010_S,MED13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61615372,61615372,G,A,R010_S,KCNH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61615653,61615653,C,T,R010_S,KCNH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61776472,61776472,C,T,R010_S,LIMD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIMD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61902809,61902809,G,A,R010_S,FTSJ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FTSJ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62399414,62399414,C,T,R010_S,PECAM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PECAM1,NM_000442:c.*1762G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,63533413,63533413,C,T,R010_S,AXIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AXIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,63848301,63848301,C,T,R010_S,CEP112,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP112,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65027657,65027657,C,T,R010_S,CACNG4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CACNG4,NM_014405:c.*537C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65374269,65374269,C,T,R010_S,PITPNC1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PITPNC1,NM_012417:c.-2C>T;NM_181671:c.-2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65735177,65735177,C,T,R010_S,NOL11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67501092,67501092,G,A,R010_S,MAP2K6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71201666,71201666,G,A,R010_S,COG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72205549,72205549,C,T,R010_S,RPL38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72443284,72443284,G,A,R010_S,GPRC5C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPRC5C,NM_001366262:c.*117G>A;NM_022036:c.*117G>A;NM_018653:c.*117G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72521784,72521784,C,T,R010_S,CD300LB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD300LB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72791847,72791847,C,T,R010_S,TMEM104,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72858927,72858927,C,T,R010_S,FDXR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FDXR,NM_004110:c.*12G>A;NM_001258014:c.*12G>A;NM_001258016:c.*12G>A;NM_001258013:c.*12G>A;NM_001258012:c.*12G>A;NM_001258015:c.*12G>A;NM_024417:c.*12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73261680,73261680,G,A,R010_S,MRPS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73266119,73266119,C,T,R010_S,MIF4GD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIF4GD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73389758,73389758,C,T,R010_S,GRB2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GRB2,NM_002086:c.-49G>A;NM_203506:c.-49G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73488554,73488554,G,A,R010_S,TMEM94,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TMEM94,NM_001351202:exon15:c.1549-1G>A;NM_001321149:exon15:c.1609-1G>A;NM_014738:exon15:c.1597-1G>A;NM_001351203:exon14:c.1627-1G>A;NM_001321148:exon14:c.1627-1G>A,NA,NA,.,.,N,.,.,.
chr17,73621026,73621026,G,A,R010_S,MYO15B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO15B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73687572,73687572,G,A,R010_S,SAP30BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAP30BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73726607,73726607,G,A,R010_S,ITGB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73735705,73735705,G,A,R010_S,ITGB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73738902,73738902,C,T,R010_S,ITGB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73811169,73811169,C,T,R010_S,UNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73842984,73842984,C,T,R010_S,WBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73872248,73872248,C,T,R010_S,TRIM47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73998586,73998586,C,T,R010_S,TEN1-CDK3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TEN1-CDK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74015747,74015747,G,A,R010_S,EVPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EVPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74036461,74036461,C,T,R010_S,SRP68,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74087421,74087421,C,T,R010_S,EXOC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74135895,74135895,G,A,R010_S,FOXJ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXJ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74539131,74539131,C,T,R010_S,PRCD,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRCD,NM_001077620:c.*80C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,75493515,75493515,G,A,R010_S,SEPTIN9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPTIN9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,75495408,75495408,G,A,R010_S,SEPTIN9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEPTIN9,NM_001293695:c.*668G>A;NM_001113491:c.*668G>A;NM_001113492:c.*668G>A;NM_006640:c.*668G>A;NM_001113493:c.*668G>A;NM_001113494:c.*668G>A;NM_001293696:c.*668G>A;NM_001113496:c.*668G>A;NM_001293697:c.*668G>A;NM_001293698:c.*668G>A;NM_001113495:c.*668G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76446056,76446056,C,T,R010_S,DNAH17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76498822,76498822,G,A,R010_S,DNAH17-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DNAH17-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76498951,76498951,C,T,R010_S,DNAH17-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DNAH17-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77039994,77039994,C,T,R010_S,C1QTNF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QTNF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78023602,78023602,C,T,R010_S,CCDC40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78039884,78039884,C,T,R010_S,CCDC40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78086652,78086652,C,T,R010_S,GAA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78156646,78156646,G,A,R010_S,CARD14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78360443,78360443,C,T,R010_S,RNF213-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RNF213-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79006886,79006886,C,T,R010_S,BAIAP2-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,BAIAP2-DT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79059150,79059150,C,T,R010_S,BAIAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79085776,79085776,G,A,R010_S,BAIAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79278769,79278769,C,T,R010_S,LINC00482,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00482,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79396553,79396553,C,T,R010_S,BAHCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAHCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79430585,79430585,G,A,R010_S,BAHCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAHCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79497627,79497627,C,T,R010_S,FSCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79614912,79614912,C,T,R010_S,TSPAN10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79620102,79620102,C,T,R010_S,PDE6G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE6G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79670621,79670621,G,A,R010_S,MRPL12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79767867,79767867,C,T,R010_S,GCGR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79865016,79865016,C,T,R010_S,PCYT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCYT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79866720,79866720,C,T,R010_S,PCYT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCYT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79872455,79872455,C,T,R010_S,SIRT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79890959,79890959,C,T,R010_S,PYCR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PYCR1,NM_001282280:c.*131G>A;NM_001330523:c.*273G>A;NM_001282279:c.*131G>A;NM_001282281:c.*131G>A;NM_006907:c.*131G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79937252,79937252,G,A,R010_S,ASPSCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80006687,80006687,G,A,R010_S,RFNG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFNG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80015288,80015288,C,T,R010_S,GPS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPS1,NM_001321092:c.*285C>T;NM_001330541:c.*285C>T;NM_004127:c.*285C>T;NM_212492:c.*285C>T;NM_001321091:c.*285C>T;NM_001330539:c.*285C>T;NM_001321090:c.*285C>T;NM_001321093:c.*285C>T;NM_001321089:c.*285C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80041647,80041647,C,T,R010_S,FASN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FASN,NM_004104:exon30:c.5218+1G>A,NA,NA,.,.,D,.,.,.
chr17,80274034,80274034,C,T,R010_S,CD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD7,NA,NA,NA,.,.,N,T,.,.
chr17,80373153,80373153,G,A,R010_S,OGFOD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGFOD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80684317,80684317,C,T,R010_S,FN3KRP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FN3KRP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,81009757,81009757,G,A,R010_S,B3GNTL1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,B3GNTL1,dist=71,NA,NA,NA,NA,NA,NA,NA,NA
chr18,210494,210494,G,A,R010_S,USP14,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,USP14,NM_001037334:exon14:c.1228+1G>A;NM_005151:exon15:c.1333+1G>A,NA,NA,.,.,D,.,.,.
chr18,2802422,2802422,G,A,R010_S,SMCHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMCHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3085001,3085001,G,A,R010_S,MYOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3174061,3174061,G,A,R010_S,MYOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3174213,3174213,G,A,R010_S,MYOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3215244,3215244,G,A,R010_S,MYOM1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MYOM1,NM_019856:c.-23C>T;NM_003803:c.-23C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3656149,3656149,G,A,R010_S,DLGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6859977,6859977,G,A,R010_S,ARHGAP28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,7008701,7008701,C,T,R010_S,LAMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,8252348,8252348,C,T,R010_S,PTPRM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,9614161,9614161,C,T,R010_S,PPP4R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP4R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12008436,12008436,C,T,R010_S,IMPA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12067256,12067256,G,A,R010_S,IMPA2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IMPA2;ANKRD62,dist=36380;dist=26586,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12067741,12067741,C,T,R010_S,IMPA2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IMPA2;ANKRD62,dist=36865;dist=26101,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12353233,12353233,G,A,R010_S,AFG3L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFG3L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19048769,19048769,G,A,R010_S,GREB1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GREB1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21343528,21343528,G,A,R010_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21361261,21361261,G,A,R010_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21427405,21427405,G,A,R010_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21441492,21441492,G,A,R010_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21474427,21474427,G,A,R010_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,23612535,23612535,G,A,R010_S,SS18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SS18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,28935411,28935411,G,A,R010_S,DSG1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DSG1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29171790,29171790,C,T,R010_S,TTR,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TTR,NM_000371:c.-76C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,31603515,31603515,G,A,R010_S,NOL4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NOL4,NM_001353233:c.-93C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,33485023,33485023,G,A,R010_S,MIR187,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR187,dist=134,NA,NA,NA,NA,NA,NA,NA,NA
chr18,33647378,33647378,C,T,R010_S,RPRD1A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RPRD1A,NM_001303412:c.-26566G>A;NM_001303411:c.-26566G>A;NM_018170:c.-11G>A;NM_001303413:c.-11G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr18,34409257,34409257,G,A,R010_S,KIAA1328,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1328,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,34773582,34773582,C,T,R010_S,KIAA1328,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1328,NA,NA,NA,.,.,N,T,.,T
chr18,34901887,34901887,G,A,R010_S,CELF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43652071,43652071,G,A,R010_S,PSTPIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSTPIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43652198,43652198,G,A,R010_S,PSTPIP2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PSTPIP2,NM_024430:c.-44C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44559312,44559312,C,T,R010_S,ELOA2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ELOA2,NM_016427:c.*62G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr18,46145722,46145722,G,A,R010_S,CTIF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTIF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,47383146,47383146,G,A,R010_S,MYO5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,48248235,48248235,G,A,R010_S,MAPK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,51795805,51795805,G,A,R010_S,POLI,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,POLI,dist=44,NA,NA,NA,NA,NA,NA,NA,NA
chr18,51858069,51858069,G,A,R010_S,STARD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STARD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,57105280,57105280,C,T,R010_S,CCBE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCBE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,60191601,60191601,G,A,R010_S,ZCCHC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,60625736,60625736,C,T,R010_S,PHLPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61170996,61170996,G,A,R010_S,SERPINB5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SERPINB5,NM_002639:c.*41G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61569146,61569146,C,T,R010_S,SERPINB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,71442160,71442160,G,A,R010_S,LINC02582,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02582;FBXO15,dist=425036;dist=298443,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77794691,77794691,C,T,R010_S,RBFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77891127,77891127,C,T,R010_S,ADNP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADNP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,375662,375662,C,T,R010_S,THEG,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,THEG,NM_016585:exon1:c.308+1G>A;NM_199202:exon1:c.308+1G>A,NA,NA,.,.,D,.,.,.
chr19,580602,580602,G,A,R010_S,BSG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BSG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,621905,621905,C,T,R010_S,POLRMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLRMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,623654,623654,C,T,R010_S,POLRMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLRMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,897398,897398,G,A,R010_S,R3HDM4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,R3HDM4,NM_138774:c.*39C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,991050,991050,C,T,R010_S,WDR18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1047146,1047146,C,T,R010_S,ABCA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1063532,1063532,C,T,R010_S,ABCA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1091127,1091127,C,T,R010_S,POLR2E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1250573,1250573,C,T,R010_S,MIDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1389336,1389336,G,A,R010_S,NDUFS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1455525,1455525,G,A,R010_S,APC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1487912,1487912,C,T,R010_S,PCSK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1611573,1611573,G,A,R010_S,TCF3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TCF3,NM_001351779:c.*133C>T;NM_003200:c.*133C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2209030,2209030,G,A,R010_S,DOT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2252840,2252840,C,T,R010_S,JSRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JSRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2289984,2289984,C,T,R010_S,LINGO3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LINGO3,NM_001101391:c.*13G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2414078,2414078,G,A,R010_S,TMPRSS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2433757,2433757,C,T,R010_S,LMNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2643219,2643219,C,T,R010_S,GNG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2757605,2757605,G,A,R010_S,SGTA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGTA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2794693,2794693,C,T,R010_S,THOP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2812140,2812140,G,A,R010_S,THOP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2981454,2981454,C,T,R010_S,TLE6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3013605,3013605,C,T,R010_S,TLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3193220,3193220,C,T,R010_S,NCLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3573295,3573295,G,A,R010_S,HMG20B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HMG20B,NM_006339:c.-13G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3578331,3578331,C,T,R010_S,HMG20B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMG20B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3578948,3578948,C,T,R010_S,HMG20B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HMG20B,NM_006339:c.*429C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3746182,3746182,G,A,R010_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3924591,3924591,G,A,R010_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4498805,4498805,C,T,R010_S,HDGFL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDGFL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4504394,4504394,G,A,R010_S,PLIN4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLIN4,NM_001367868:c.*77C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4509058,4509058,C,T,R010_S,PLIN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLIN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5077338,5077338,C,T,R010_S,KDM4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5599010,5599010,C,T,R010_S,SAFB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAFB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5694606,5694606,G,A,R010_S,LONP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LONP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5759226,5759226,G,A,R010_S,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5778702,5778702,G,A,R010_S,CATSPERD,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CATSPERD,NM_152784:c.*15G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5918031,5918031,C,T,R010_S,RANBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6147729,6147729,C,T,R010_S,ACSBG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSBG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6230796,6230796,C,T,R010_S,MLLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6392795,6392795,C,T,R010_S,GTF2F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6443647,6443647,C,T,R010_S,SLC25A23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A23,NA,NA,NA,T,.,N,T,N,T
chr19,6678042,6678042,G,A,R010_S,C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6687009,6687009,C,T,R010_S,C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6692895,6692895,G,A,R010_S,C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6712469,6712469,C,T,R010_S,C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6718517,6718517,C,T,R010_S,C3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6977258,6977258,C,T,R010_S,ADGRE4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_splicing,ADGRE4P,NR_024075:exon7:c.697+1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6994986,6994986,G,A,R010_S,ADGRE4P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADGRE4P;FLJ25758,dist=4129;dist=9978,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7516172,7516172,C,T,R010_S,ARHGEF18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7571896,7571896,C,T,R010_S,TEX45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7592266,7592266,C,T,R010_S,MCOLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCOLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7676541,7676541,C,T,R010_S,CAMSAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMSAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7694339,7694339,C,T,R010_S,XAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7734380,7734380,C,T,R010_S,RETN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RETN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7794598,7794598,C,T,R010_S,CLEC4G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC4G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7960446,7960446,G,A,R010_S,LRRC8E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC8E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8201461,8201461,C,T,R010_S,FBN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8536116,8536116,G,A,R010_S,HNRNPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8576885,8576885,G,A,R010_S,ZNF414,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF414,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9297424,9297424,G,A,R010_S,OR7D2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OR7D2,NM_175883:c.*28G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9929548,9929548,G,A,R010_S,FBXL12,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FBXL12,NM_001316938:c.-7155C>T;NM_001316939:c.-7155C>T;NM_001316940:c.-7155C>T;NM_001316941:c.-7155C>T;NM_001316942:c.-7155C>T;NM_001316936:c.-59C>T;NM_017703:c.-59C>T;NM_001316937:c.-7155C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10415716,10415716,C,T,R010_S,ZGLP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZGLP1,NM_001103167:c.*51G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10480433,10480433,C,T,R010_S,TYK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYK2,NA,NA,NA,T,.,N,T,N,T
chr19,10563860,10563860,C,T,R010_S,PDE4A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PDE4A,NM_006202:c.-80C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10663001,10663001,G,A,R010_S,ATG4D,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ATG4D,NM_001281504:exon9:c.1053+1G>A;NM_032885:exon9:c.1242+1G>A,NA,NA,.,.,D,.,.,.
chr19,10746972,10746972,G,A,R010_S,SLC44A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10781554,10781554,C,T,R010_S,ILF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ILF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10906160,10906160,G,A,R010_S,DNM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10958951,10958951,C,T,R010_S,C19orf38,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,C19orf38,dist=140,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10970650,10970650,C,T,R010_S,C19orf38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11468425,11468425,C,T,R010_S,PLPPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLPPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11474518,11474518,G,A,R010_S,PLPPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLPPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12247639,12247639,C,T,R010_S,ZNF625-ZNF20,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF625-ZNF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12639259,12639259,G,A,R010_S,ZNF564,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF564,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12720150,12720150,G,A,R010_S,ZNF490,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF490,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12864025,12864025,G,A,R010_S,BEST2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BEST2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12880934,12880934,C,T,R010_S,HOOK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOOK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12885582,12885582,G,A,R010_S,HOOK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOOK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13260879,13260879,C,T,R010_S,STX10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STX10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13565920,13565920,C,T,R010_S,CACNA1A,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CACNA1A,NM_001127221:exon2:c.399+1G>A;NM_023035:exon2:c.399+1G>A;NM_000068:exon2:c.399+1G>A;NM_001174080:exon2:c.399+1G>A;NM_001127222:exon2:c.399+1G>A,NA,NA,.,.,D,.,.,.
chr19,14015598,14015598,G,A,R010_S,C19orf57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14168113,14168113,C,T,R010_S,PALM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PALM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14185283,14185283,C,T,R010_S,MISP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14877734,14877734,C,T,R010_S,ADGRE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15291712,15291712,C,T,R010_S,NOTCH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOTCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15296247,15296247,G,A,R010_S,NOTCH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOTCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15349175,15349175,C,T,R010_S,BRD4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BRD4,NM_058243:c.*13G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15565428,15565428,C,T,R010_S,RASAL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15760152,15760152,G,A,R010_S,CYP4F3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15761035,15761035,C,T,R010_S,CYP4F3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15806912,15806912,G,A,R010_S,CYP4F12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15882892,15882892,C,T,R010_S,CYP4F24P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CYP4F24P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16024509,16024509,G,A,R010_S,CYP4F11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CYP4F11,NM_001128932:c.*33C>T;NM_021187:c.*33C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16044871,16044871,T,C,R010_S,CYP4F11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16515354,16515354,C,T,R010_S,EPS15L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS15L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16757652,16757652,C,T,R010_S,SMIM7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SMIM7,NM_024104:c.*405G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16797281,16797281,G,A,R010_S,TMEM38A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM38A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16876045,16876045,C,T,R010_S,NWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16988845,16988845,G,A,R010_S,SIN3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIN3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17131241,17131241,C,T,R010_S,CPAMD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPAMD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17296729,17296729,G,A,R010_S,MYO9B,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MYO9B,NM_001130065:exon18:c.2497-1G>A;NM_004145:exon18:c.2497-1G>A,NA,NA,.,.,D,.,.,.
chr19,17301748,17301748,C,T,R010_S,MYO9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17313742,17313742,G,A,R010_S,MYO9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17327148,17327148,G,A,R010_S,USE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17463149,17463149,G,A,R010_S,PLVAP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLVAP,NM_031310:c.*22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17615423,17615423,G,A,R010_S,LOC100507551,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100507551,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17738772,17738772,G,A,R010_S,UNC13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17970874,17970874,G,A,R010_S,RPL18A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL18A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18180571,18180571,C,T,R010_S,IL12RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL12RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18188579,18188579,G,A,R010_S,IL12RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL12RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18209597,18209597,C,T,R010_S,IL12RB1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,IL12RB1,NM_001290024:c.-22G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18234745,18234745,C,T,R010_S,MAST3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAST3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18250054,18250054,C,T,R010_S,MAST3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAST3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18279257,18279257,C,T,R010_S,PIK3R2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18538811,18538811,G,A,R010_S,SSBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18981586,18981586,C,T,R010_S,CERS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CERS1;GDF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19774063,19774063,C,T,R010_S,ATP13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19779585,19779585,G,A,R010_S,ZNF101,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF101,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,20748273,20748273,C,T,R010_S,ZNF737,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF737,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,30018063,30018063,C,T,R010_S,VSTM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,30205926,30205926,C,T,R010_S,C19orf12,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C19orf12,NM_001282929:c.-12074G>A;NM_001031726:c.-90G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33353501,33353501,G,A,R010_S,SLC7A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33424353,33424353,C,T,R010_S,CEP89,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP89,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33581828,33581828,C,T,R010_S,GPATCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33792222,33792222,G,A,R010_S,CEBPA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CEBPA,NM_001287424:c.*22C>T;NM_001285829:c.*22C>T;NM_004364:c.*22C>T;NM_001287435:c.*22C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33969100,33969100,C,T,R010_S,PEPD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEPD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34303879,34303879,C,T,R010_S,KCTD15,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KCTD15,NM_001129995:c.*26C>T;NM_024076:c.*1172C>T;NM_001129994:c.*26C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34513669,34513669,G,A,R010_S,KCTD15,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,KCTD15;LSM14A,dist=207003;dist=149740,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34869992,34869992,C,T,R010_S,GPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35084555,35084555,C,T,R010_S,SCGB1B2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SCGB1B2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35510283,35510283,C,T,R010_S,GRAMD1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35523619,35523619,G,A,R010_S,SCN1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35556393,35556393,G,A,R010_S,HPN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HPN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36046536,36046536,C,T,R010_S,ATP4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36135123,36135123,C,T,R010_S,ETV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36205375,36205375,G,A,R010_S,ZBTB32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36218188,36218188,C,T,R010_S,KMT2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36245071,36245071,G,A,R010_S,LIN37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIN37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36499055,36499055,C,T,R010_S,SYNE4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36580282,36580282,C,T,R010_S,WDR62,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR62,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36602211,36602211,C,T,R010_S,OVOL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OVOL3,NA,NA,NA,.,.,N,T,.,.
chr19,37064358,37064358,C,T,R010_S,ZNF529-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ZNF529-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38795614,38795614,G,A,R010_S,C19orf33,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C19orf33;YIF1B,NM_033520:c.*10G>A;NM_001317801:c.*132G>A;NM_001039671:c.*378C>T;NM_001145461:c.*378C>T;NM_001145462:c.*378C>T;NM_001039673:c.*378C>T;NM_001145463:c.*515C>T;NM_001039672:c.*378C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38860755,38860755,C,T,R010_S,CATSPERG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39088075,39088075,G,A,R010_S,LOC105372397,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105372397,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39225448,39225448,C,T,R010_S,CAPN12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39340623,39340623,C,T,R010_S,HNRNPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39370255,39370255,C,T,R010_S,SIRT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39384447,39384447,G,A,R010_S,SIRT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39591917,39591917,C,T,R010_S,ACP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39667107,39667107,C,T,R010_S,PAK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39900273,39900273,C,T,R010_S,MIR4530,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4530,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39948425,39948425,G,A,R010_S,SUPT5H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPT5H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40389615,40389615,C,T,R010_S,FCGBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCGBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40720757,40720757,G,A,R010_S,MAP3K10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40721206,40721206,C,T,R010_S,MAP3K10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAP3K10,NM_002446:c.*7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40761214,40761214,G,A,R010_S,AKT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40883545,40883545,C,T,R010_S,PLD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41071494,41071494,C,T,R010_S,SPTBN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41249945,41249945,C,T,R010_S,C19orf54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41518428,41518428,G,A,R010_S,CYP2B6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2B6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41704327,41704327,G,A,R010_S,CYP2S1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2S1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42311280,42311280,C,T,R010_S,CEACAM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42375235,42375235,C,T,R010_S,RPS19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42396452,42396452,G,A,R010_S,ARHGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42397446,42397446,G,A,R010_S,ARHGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42557915,42557915,C,T,R010_S,GRIK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42582729,42582729,C,T,R010_S,ZNF574,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF574,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42596149,42596149,G,A,R010_S,POU2F2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,POU2F2,NM_001207026:c.*68C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42728520,42728520,C,T,R010_S,ZNF526,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF526,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42911708,42911708,C,T,R010_S,LIPE-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LIPE-AS1;LOC101930071,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42911714,42911714,C,T,R010_S,LIPE-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LIPE-AS1;LOC101930071,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42928416,42928416,G,A,R010_S,LIPE-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LIPE-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43023479,43023479,C,T,R010_S,LIPE-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LIPE-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44101191,44101191,C,T,R010_S,ZNF576,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF576,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44130229,44130229,G,A,R010_S,CADM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44663791,44663791,C,T,R010_S,ZNF234,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF234,NM_001144824:c.*1519C>T;NM_006630:c.*1519C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44844557,44844557,C,T,R010_S,ZNF112,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF112,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44946969,44946969,C,T,R010_S,ZNF229,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF229,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45017113,45017113,C,T,R010_S,CEACAM20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45314637,45314637,G,A,R010_S,BCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45322557,45322557,C,T,R010_S,BCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45451933,45451933,C,T,R010_S,APOC4-APOC2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,APOC4-APOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45452367,45452367,C,T,R010_S,APOC4-APOC2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,APOC4-APOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45511875,45511875,C,T,R010_S,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45525214,45525214,G,A,R010_S,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45532054,45532054,G,A,R010_S,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45565222,45565222,G,A,R010_S,CLASRP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASRP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45754937,45754937,C,T,R010_S,MARK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45865158,45865158,G,A,R010_S,ERCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45883400,45883400,G,A,R010_S,PPP1R13L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PPP1R13L,NM_001142502:c.*48C>T;NM_006663:c.*48C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45910307,45910307,C,T,R010_S,CD3EAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD3EAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45923686,45923686,C,T,R010_S,ERCC1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ERCC1,NM_001369413:exon5:c.322-1G>A;NM_001983:exon4:c.322-1G>A;NM_001369419:exon3:c.322-1G>A;NM_001369418:exon4:c.322-1G>A;NM_001369417:exon5:c.322-1G>A;NM_001369416:exon3:c.322-1G>A;NM_001369415:exon4:c.322-1G>A;NM_001369414:exon5:c.322-1G>A;NM_001166049:exon4:c.322-1G>A;NM_001369412:exon4:c.322-1G>A;NM_001369409:exon4:c.322-1G>A;NM_001369410:exon4:c.322-1G>A;NM_001369408:exon4:c.322-1G>A;NM_001369411:exon3:c.322-1G>A;NM_202001:exon3:c.322-1G>A,NA,NA,.,.,D,.,.,.
chr19,46120817,46120817,G,A,R010_S,EML2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46133357,46133357,C,T,R010_S,EML2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46133361,46133361,C,T,R010_S,EML2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46172719,46172719,C,T,R010_S,GIPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46329447,46329447,G,A,R010_S,SYMPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYMPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46330723,46330723,C,T,R010_S,SYMPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYMPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46338510,46338510,C,T,R010_S,SYMPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYMPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46815353,46815353,C,T,R010_S,HIF3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIF3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46823661,46823661,C,T,R010_S,HIF3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIF3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46879657,46879657,C,T,R010_S,PPP5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46886747,46886747,G,A,R010_S,PPP5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46890827,46890827,G,A,R010_S,PPP5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47219310,47219310,C,T,R010_S,PRKD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47536011,47536011,C,T,R010_S,NPAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47773551,47773551,C,T,R010_S,CCDC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47876846,47876846,C,T,R010_S,DHX34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48255870,48255870,C,T,R010_S,NOP53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOP53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48537649,48537649,G,A,R010_S,CABP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CABP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48636403,48636403,G,A,R010_S,LIG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48945714,48945714,G,A,R010_S,GRIN2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIN2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49216924,49216924,C,T,R010_S,MAMSTR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAMSTR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49360566,49360566,C,T,R010_S,PLEKHA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49384261,49384261,C,T,R010_S,TULP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TULP2,NM_003323:c.*7G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49484744,49484744,C,T,R010_S,GYS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49490357,49490357,C,T,R010_S,GYS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49513343,49513343,G,A,R010_S,RUVBL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUVBL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49630983,49630983,C,T,R010_S,PPFIA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49671485,49671485,C,T,R010_S,TRPM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49860615,49860615,C,T,R010_S,TEAD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49910759,49910759,C,T,R010_S,CCDC155,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49926342,49926342,G,A,R010_S,PTH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49930960,49930960,A,G,R010_S,GFY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50096748,50096748,G,A,R010_S,PRR12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRR12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50118078,50118078,G,A,R010_S,PRR12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRR12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50118985,50118985,C,T,R010_S,PRR12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRR12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50143196,50143196,C,T,R010_S,RRAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50172245,50172245,G,A,R010_S,BCL2L12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL2L12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50173404,50173404,C,T,R010_S,BCL2L12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL2L12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50381345,50381345,C,T,R010_S,AKT1S1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKT1S1;TBC1D17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50747673,50747673,C,T,R010_S,MYH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50766523,50766523,G,A,R010_S,MYH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50818109,50818109,C,T,R010_S,KCNC3,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,KCNC3,dist=656,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50864149,50864149,C,T,R010_S,NAPSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAPSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50880989,50880989,G,A,R010_S,NR1H2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NR1H2,NM_001256647:exon4:c.44-1G>A;NM_007121:exon4:c.44-1G>A,NA,NA,.,.,D,.,.,.
chr19,50979043,50979043,G,A,R010_S,FAM71E1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM71E1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50983473,50983473,G,A,R010_S,EMC10,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,EMC10,NM_206538:exon4:c.402+1G>A;NM_175063:exon4:c.402+1G>A,NA,NA,.,.,D,.,.,.
chr19,50985889,50985889,C,T,R010_S,EMC10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EMC10,NM_206538:c.*373C>T;NM_175063:c.*484C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51329779,51329779,C,T,R010_S,KLK15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51411593,51411593,C,T,R010_S,KLK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51483438,51483438,C,T,R010_S,KLK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51920278,51920278,G,C,R010_S,LOC100129083,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC100129083;SIGLEC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52104669,52104669,C,T,R010_S,LINC01530,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01530;SIGLEC5,dist=7036;dist=10087,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52543947,52543947,G,A,R010_S,ZNF432,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF432,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52709350,52709350,C,T,R010_S,PPP2R1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53625914,53625914,C,T,R010_S,ZNF415,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZNF415,NM_001352135:exon2:c.153+1G>A;NM_001330759:exon2:UTR5;NM_001330766:exon3:UTR5;NM_001352134:exon2:UTR5;NM_001352139:exon2:UTR5;NM_001352140:exon2:UTR5;NM_001352146:exon3:c.15+1G>A;NM_001352147:exon2:UTR5;NM_001352149:exon3:UTR5;NM_001352150:exon2:UTR5;NM_001352151:exon3:UTR5;NM_018355:exon2:c.15+1G>A;NM_001164309:exon2:c.15+1G>A,NA,NA,.,.,D,.,.,.
chr19,54376781,54376781,G,A,R010_S,MYADM,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MYADM,NM_001290193:exon3:UTR5;NM_001020820:exon3:UTR5;NM_001290188:exon3:UTR5;NM_001020819:exon3:UTR5;NM_001290191:exon3:UTR5;NM_001290192:exon3:UTR5;NM_001290194:exon2:UTR5;NM_138373:exon3:UTR5;NM_001290190:exon3:UTR5;NM_001020821:exon3:UTR5;NM_001020818:exon2:UTR5;NM_001290189:exon3:UTR5,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54554624,54554624,G,A,R010_S,VSTM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54610584,54610584,C,T,R010_S,NDUFA3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NDUFA3,NM_004542:c.*375C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54658985,54658985,G,A,R010_S,LENG1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LENG1,NM_024316:c.*474C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54663962,54663962,C,T,R010_S,TMC4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMC4,NM_144686:c.*81G>A;NM_001145303:c.*81G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54723235,54723235,G,A,R010_S,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54724609,54724609,C,T,R010_S,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54822998,54822998,G,A,R010_S,LILRA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54932613,54932613,C,T,R010_S,TTYH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTYH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55148428,55148428,C,T,R010_S,LILRB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LILRB1,NM_006669:c.*99C>T;NM_001081639:c.*99C>T;NM_001081638:c.*99C>T;NM_001278398:c.*99C>T;NM_001081637:c.*99C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55174323,55174323,G,A,R010_S,LILRB4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LILRB4,NM_001278427:c.-163G>A;NM_001278429:c.-40G>A;NM_001278426:c.-163G>A;NM_001278430:c.-163G>A;NM_001278428:c.-163G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55758552,55758552,G,A,R010_S,PPP6R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP6R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55898136,55898136,C,T,R010_S,RPL28,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPL28,NM_001136136:c.*16C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55966762,55966762,G,A,R010_S,ISOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ISOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56160961,56160961,G,A,R010_S,CCDC106,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC106,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56220498,56220498,C,T,R010_S,NLRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56290120,56290120,T,C,R010_S,RFPL4AL1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RFPL4AL1;NLRP11,dist=5334;dist=6643,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56757713,56757713,C,T,R010_S,ZSCAN5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN5A,NA,NA,NA,.,.,N,T,.,.
chr19,56918366,56918366,G,A,R010_S,ZNF583,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF583,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57646285,57646285,C,T,R010_S,ZIM3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZIM3,NM_052882:c.*1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57863076,57863076,G,A,R010_S,ZNF304,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF304,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57901485,57901485,G,A,R010_S,ZNF548,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF548,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57929519,57929519,C,T,R010_S,ZNF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58042294,58042294,C,T,R010_S,ZNF549,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF549,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58220284,58220284,G,A,R010_S,ZNF154,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF154,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58361483,58361483,C,T,R010_S,ZNF587,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF587,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58514313,58514313,C,T,R010_S,LOC100128398,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100128398,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58571507,58571507,G,A,R010_S,ZNF135,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF135,NM_001289402:c.-1534G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58858376,58858376,C,T,R010_S,A1BG,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,A1BG,NM_130786:c.*12G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58870946,58870946,C,T,R010_S,ZNF497,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF497,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58920140,58920140,C,T,R010_S,ZNF584,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF584,NM_173548:c.-375C>T;NM_001363680:c.-1285C>T;NM_001318002:c.-375C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58948291,58948291,C,T,R010_S,ZNF132,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF132,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,59010321,59010321,G,A,R010_S,SLC27A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC27A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,400424,400424,G,A,R010_S,RBCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,860297,860297,G,A,R010_S,ANGPT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2321607,2321607,C,T,R010_S,TGM3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TGM3,NM_003245:c.*380C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2376135,2376135,G,A,R010_S,TGM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2381114,2381114,C,T,R010_S,TGM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2820579,2820579,G,A,R010_S,PCED1A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PCED1A,NM_022760:c.-21C>T;NM_001271168:c.-21C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2840490,2840490,C,T,R010_S,VPS16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2998381,2998381,G,A,R010_S,PTPRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3052236,3052236,G,A,R010_S,OXT,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OXT,dist=30,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3172101,3172101,C,T,R010_S,DDRGK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDRGK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3210780,3210780,C,T,R010_S,SLC4A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3219670,3219670,G,A,R010_S,SLC4A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3321324,3321324,G,A,R010_S,C20orf194,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C20orf194,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3650085,3650085,G,A,R010_S,ADAM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3652641,3652641,G,A,R010_S,ADAM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3846830,3846830,C,T,R010_S,MAVS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAVS,NM_001206491:c.*36C>T;NM_020746:c.*36C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3899508,3899508,G,A,R010_S,PANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5100174,5100174,C,T,R010_S,PCNA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCNA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5107635,5107635,G,A,R010_S,CDS2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CDS2;PCNA,dist=19,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5165387,5165387,G,A,R010_S,CDS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5296600,5296600,G,A,R010_S,PROKR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROKR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10541494,10541494,G,A,R010_S,SLX4IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLX4IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10622353,10622353,C,T,R010_S,JAG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,12989819,12989819,C,T,R010_S,SPTLC3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SPTLC3,NM_018327:c.-97C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,13775600,13775600,C,T,R010_S,NDUFAF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFAF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,16553929,16553929,C,T,R010_S,KIF16B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KIF16B,NM_001199865:c.-9G>A;NM_024704:c.-9G>A;NM_001199866:c.-9G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,17602274,17602274,G,A,R010_S,RRBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,19679372,19679372,C,T,R010_S,SLC24A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC24A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,19679445,19679445,G,A,R010_S,SLC24A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC24A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,19701872,19701872,C,T,R010_S,SLC24A3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC24A3,NM_020689:c.*88C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,21142502,21142502,G,A,R010_S,KIZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,21687770,21687770,G,A,R010_S,PAX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,23473576,23473576,C,T,R010_S,CST8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CST8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,23669675,23669675,C,T,R010_S,CST4,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CST4,dist=13,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25239837,25239837,G,A,R010_S,PYGB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYGB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25450842,25450842,C,T,R010_S,NINL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NINL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30137159,30137159,G,A,R010_S,HM13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HM13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30452599,30452599,G,A,R010_S,DUSP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUSP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30458303,30458303,C,T,R010_S,DUSP15,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DUSP15,NM_080611:c.-163G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31463612,31463612,G,A,R010_S,EFCAB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31669327,31669327,G,A,R010_S,BPIFB4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,BPIFB4,NM_182519:c.-6G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31690909,31690909,C,T,R010_S,BPIFB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31876749,31876749,C,T,R010_S,BPIFB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32246395,32246395,G,A,R010_S,NECAB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECAB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33069074,33069074,C,T,R010_S,ITCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33233217,33233217,G,A,R010_S,PIGU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33500356,33500356,G,A,R010_S,ACSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33511397,33511397,G,A,R010_S,ACSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33586251,33586251,C,T,R010_S,MYH7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33595588,33595588,G,A,R010_S,TRPC4AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC4AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33867744,33867744,C,T,R010_S,EIF6,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,EIF6,NM_181468:exon4:c.546+1G>A;NM_001267810:exon5:c.546+1G>A;NM_002212:exon5:c.546+1G>A;NM_181466:exon3:c.489+1G>A,NA,NA,.,.,D,.,.,.
chr20,34081118,34081118,G,A,R010_S,CEP250,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP250,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34130546,34130546,C,T,R010_S,ERGIC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERGIC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34528737,34528737,G,A,R010_S,PHF20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35507291,35507291,G,A,R010_S,TLDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36468474,36468474,G,A,R010_S,CTNNBL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNBL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36758489,36758489,C,T,R010_S,TGM2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TGM2,NM_004613:c.*132G>A;NM_001323318:c.*132G>A;NM_001323316:c.*132G>A;NM_001323317:c.*132G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36932610,36932610,G,A,R010_S,BPI,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,BPI,NM_001725:c.-4G>A,NA,NA,.,.,D,.,.,.
chr20,37001701,37001701,C,T,R010_S,LBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37056034,37056034,C,T,R010_S,SNORA71A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORA71A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37621100,37621100,G,A,R010_S,DHX35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,39657574,39657574,G,A,R010_S,TOP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TOP1,NM_003286:c.-134G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42682902,42682902,G,A,R010_S,TOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42907996,42907996,C,T,R010_S,GDAP1L1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GDAP1L1,NM_001256738:c.*56C>T;NM_001256737:c.*56C>T;NM_001256740:c.*56C>T;NM_001256739:c.*56C>T;NM_024034:c.*56C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43036011,43036011,C,T,R010_S,HNF4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNF4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43257678,43257678,G,A,R010_S,ADA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43547808,43547808,G,A,R010_S,PABPC1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PABPC1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43882153,43882153,C,T,R010_S,SLPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44452891,44452891,C,T,R010_S,TNNC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44453380,44453380,G,A,R010_S,TNNC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNNC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44469216,44469216,G,A,R010_S,SNX21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44540107,44540107,G,A,R010_S,PLTP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLTP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44639717,44639717,G,A,R010_S,MMP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44683668,44683668,G,A,R010_S,SLC12A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45797744,45797744,G,A,R010_S,EYA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47775079,47775079,G,A,R010_S,STAU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47892540,47892540,G,A,R010_S,ZNFX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNFX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48604632,48604632,C,T,R010_S,SNAI1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNAI1,NM_005985:c.*39C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,49224894,49224894,C,T,R010_S,RIPOR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIPOR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50241937,50241937,G,A,R010_S,ATP9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50776964,50776964,G,A,R010_S,ZFP64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52645554,52645554,G,A,R010_S,BCAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,55049900,55049900,C,T,R010_S,RTF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56078666,56078666,G,A,R010_S,CTCFL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTCFL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56284644,56284644,G,A,R010_S,PMEPA1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PMEPA1,NM_020182:c.-6C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57568487,57568487,C,T,R010_S,NELFCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NELFCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,58645775,58645775,G,A,R010_S,C20orf197,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,C20orf197,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,59053051,59053051,C,T,R010_S,MIR4533,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4533,dist=118,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60294192,60294192,C,T,R010_S,LOC100128310,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100128310,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60793540,60793540,G,A,R010_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60886217,60886217,C,T,R010_S,LAMA5,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LAMA5,NM_005560:exon73:c.10088+1G>A,NA,NA,.,.,D,.,.,.
chr20,60888580,60888580,G,A,R010_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60963232,60963232,G,A,R010_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61290226,61290226,G,A,R010_S,SLCO4A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61299537,61299537,G,A,R010_S,SLCO4A1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SLCO4A1,NM_016354:exon9:c.1811+1G>A,NA,NA,.,.,D,.,.,.
chr20,61331839,61331839,C,T,R010_S,SLCO4A1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLCO4A1;NTSR1,dist=28194;dist=8349,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61453459,61453459,C,T,R010_S,COL9A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61456432,61456432,G,A,R010_S,COL9A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61461194,61461194,G,A,R010_S,COL9A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61484364,61484364,G,A,R010_S,TCFL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCFL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61526382,61526382,G,A,R010_S,DIDO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIDO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61584427,61584427,C,T,R010_S,SLC17A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61919321,61919321,G,A,R010_S,ARFGAP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARFGAP1,NM_001281484:c.*96G>A;NM_001281483:c.*96G>A;NM_175609:c.*96G>A;NM_018209:c.*96G>A;NM_001281482:c.*344G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61941673,61941673,C,T,R010_S,COL20A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL20A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62103841,62103841,G,A,R010_S,KCNQ2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,KCNQ2,NM_004518:c.-25C>T;NM_172108:c.-25C>T;NM_172107:c.-25C>T;NM_172106:c.-25C>T;NM_172109:c.-25C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62168378,62168378,C,T,R010_S,PTK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62168670,62168670,C,T,R010_S,PTK6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTK6,NM_005975:c.-3G>A;NM_001256358:c.-3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62489157,62489157,G,A,R010_S,ZBTB46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZBTB46;ABHD16B,dist=26540;dist=3409,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62599060,62599060,G,A,R010_S,ZNF512B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF512B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62670229,62670229,C,T,R010_S,C20orf204,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C20orf204,NM_001348090:c.*117C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62868529,62868529,G,A,R010_S,MYT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,14745354,14745354,C,T,R010_S,ANKRD30BP2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANKRD30BP2;MIR3156-3,dist=254783;dist=33351,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17566879,17566879,C,T,R010_S,MIR99AHG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR99AHG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17962576,17962576,C,T,R010_S,MIR125B2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR125B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,28211905,28211905,C,T,R010_S,ADAMTS1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ADAMTS1,NM_006988:exon7:c.2028+1G>A,NA,NA,.,.,D,.,.,.
chr21,30359298,30359298,G,A,R010_S,LTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,32433571,32433571,G,A,R010_S,KRTAP19-8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,KRTAP19-8;TIAM1,dist=22776;dist=57165,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33642900,33642900,C,T,R010_S,MIS18A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIS18A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33678831,33678831,C,T,R010_S,MRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34668488,34668488,G,A,R010_S,IL10RB,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,IL10RB,NM_000628:exon7:c.805-1G>A,NA,NA,.,.,D,.,.,.
chr21,34985759,34985759,G,A,R010_S,CRYZL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYZL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,36079547,36079547,C,T,R010_S,CLIC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,36231753,36231753,C,T,R010_S,RUNX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38536615,38536615,C,T,R010_S,TTC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,39775671,39775671,C,T,R010_S,ERG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40721483,40721483,G,A,R010_S,HMGN1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,HMGN1,dist=469,NA,NA,NA,NA,NA,NA,NA,NA
chr21,42779896,42779896,C,T,R010_S,MX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43163948,43163948,C,T,R010_S,RIPK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIPK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43640292,43640292,C,T,R010_S,ABCG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43945870,43945870,C,T,R010_S,SLC37A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC37A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44452321,44452321,C,T,R010_S,PKNOX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PKNOX1,NM_001286258:c.*2110C>T;NM_001320694:c.*2110C>T;NM_004571:c.*2110C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45391253,45391253,C,T,R010_S,AGPAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGPAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45397900,45397900,C,T,R010_S,AGPAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGPAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45405056,45405056,G,A,R010_S,AGPAT3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AGPAT3,NM_001369878:c.*2783G>A;NM_020132:c.*2783G>A;NM_001369881:c.*2783G>A;NM_001369880:c.*2783G>A;NM_001037553:c.*2783G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45540469,45540469,G,A,R010_S,LOC102724159,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC102724159;PWP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45555933,45555933,C,T,R010_S,GATD3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GATD3A;GATD3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45564875,45564875,C,T,R010_S,GATD3A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GATD3A;GATD3B,NM_198155:c.*44C>T;NM_004649:c.*44C>T;NM_001363761:c.*44C>T;NM_001363760:c.*44C>T;NM_001363758:c.*44C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45706843,45706843,C,T,R010_S,AIRE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AIRE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45751972,45751972,C,T,R010_S,CFAP410,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP410,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46275119,46275119,C,T,R010_S,PTTG1IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTTG1IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46327973,46327973,C,T,R010_S,ITGB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB2,NA,NA,NA,D,.,N,D,N,T
chr21,46640684,46640684,C,T,R010_S,ADARB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADARB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46900289,46900289,G,A,R010_S,COL18A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46900590,46900590,C,T,R010_S,COL18A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46916860,46916860,C,T,R010_S,COL18A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47838299,47838299,C,T,R010_S,PCNT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,48072685,48072685,G,A,R010_S,PRMT2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRMT2,NM_001242865:c.*767G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17584328,17584328,C,T,R010_S,IL17RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL17RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18310396,18310396,C,T,R010_S,MICAL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18898588,18898588,C,T,R010_S,DGCR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGCR6;LOC102724770,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19109784,19109784,G,A,R010_S,DGCR2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DGCR2,NM_001173533:c.-65C>T;NM_001184781:c.-65C>T;NM_005137:c.-65C>T;NM_001173534:c.-65C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19122715,19122715,C,T,R010_S,ESS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19709905,19709905,G,A,R010_S,SEPT5-GP1BB,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SEPT5-GP1BB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19868126,19868126,G,A,R010_S,TXNRD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNRD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20130177,20130177,G,A,R010_S,ZDHHC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20909436,20909436,G,A,R010_S,MED15,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MED15,NM_001293235:exon5:c.373+1G>A;NM_001293234:exon5:c.451+1G>A;NM_015889:exon5:c.451+1G>A;NM_001003891:exon5:c.451+1G>A;NM_001293237:exon5:c.373+1G>A,NA,NA,.,.,D,.,.,.
chr22,21105824,21105824,C,T,R010_S,PI4KA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PI4KA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21311803,21311803,G,A,R010_S,LINC01637,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01637,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21311835,21311835,G,A,R010_S,LINC01637,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01637,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21356286,21356286,G,A,R010_S,THAP7-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,THAP7-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21402319,21402319,C,T,R010_S,LRRC74B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC74B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22023538,22023538,C,T,R010_S,PPIL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22025229,22025229,G,A,R010_S,PPIL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23054801,23054801,G,A,R010_S,GGTLC2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGTLC2;MIR650,dist=64433;dist=110469,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23063538,23063538,G,A,R010_S,GGTLC2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGTLC2;MIR650,dist=73170;dist=101732,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23213621,23213621,C,T,R010_S,MIR650,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR650;MIR5571,dist=48256;dist=14826,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24106427,24106427,C,T,R010_S,C22orf15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C22orf15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24200356,24200356,G,A,R010_S,SLC2A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25029220,25029220,C,T,R010_S,BCRP3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,BCRP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25320090,25320090,G,A,R010_S,SGSM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26342234,26342234,C,T,R010_S,MYO18B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO18B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26848180,26848180,C,T,R010_S,HPS4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HPS4,NM_001349899:c.*1019G>A;NM_022081:c.*1019G>A;NM_152841:c.*1019G>A;NM_001349896:c.*1019G>A;NM_001349903:c.*954G>A;NM_001349900:c.*1019G>A;NM_001349898:c.*1019G>A;NM_001349901:c.*1019G>A;NM_001349902:c.*954G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26928775,26928775,C,T,R010_S,TPST2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPST2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,28497276,28497276,C,T,R010_S,TTC28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29440884,29440884,G,A,R010_S,ZNRF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNRF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30060975,30060975,C,T,R010_S,NF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30079156,30079156,C,T,R010_S,NF2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NF2,NM_181825:c.*112C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30234219,30234219,C,T,R010_S,ASCC2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ASCC2,NM_001369925:c.-5905G>A;NM_001369924:c.-5905G>A;NM_001369923:c.-5905G>A;NM_001369928:c.-5905G>A;NM_001369927:c.-5905G>A;NM_001369929:c.-5905G>A;NM_001369948:c.-23562G>A;NM_001369921:c.-5905G>A;NM_001369949:c.-23562G>A;NM_001369950:c.-23562G>A;NM_001369943:c.-23562G>A;NM_001242906:c.-5905G>A;NM_001369931:c.-13075G>A;NM_001369932:c.-13075G>A;NM_001369922:c.-5905G>A;NM_001369944:c.-23562G>A;NM_001369930:c.-5905G>A;NM_032204:c.-5905G>A;NM_001369945:c.-23562G>A;NM_001369947:c.-23562G>A;NM_001369942:c.-15889G>A;NM_001369936:c.-13075G>A;NM_001369935:c.-13075G>A;NM_001369934:c.-13075G>A;NM_001369933:c.-13075G>A;NM_001369926:c.-5905G>A;NM_001369937:c.-13075G>A;NM_001369946:c.-23562G>A;NM_001369920:c.-5905G>A;NM_001369941:c.-13075G>A;NM_001369939:c.-13075G>A;NM_001369940:c.-13075G>A;NM_001369938:c.-13075G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30394722,30394722,C,T,R010_S,MTMR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30662736,30662736,G,A,R010_S,OSM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30691884,30691884,C,T,R010_S,TBC1D10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30736820,30736820,G,A,R010_S,SF3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30803011,30803011,G,A,R010_S,SEC14L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC14L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30820677,30820677,G,A,R010_S,SEC14L2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEC14L2,NM_012429:c.*2281G>A;NM_001291932:c.*2281G>A;NM_001204204:c.*2281G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30891822,30891822,G,A,R010_S,SEC14L4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC14L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30934946,30934946,G,A,R010_S,SEC14L6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC14L6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30987970,30987970,G,A,R010_S,PES1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PES1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31007164,31007164,C,T,R010_S,TCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31013258,31013258,C,T,R010_S,TCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31060028,31060028,C,T,R010_S,DUSP18,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DUSP18,NM_001304795:c.-38G>A;NM_001304794:c.-38G>A;NM_001304796:c.-38G>A;NM_152511:c.-38G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31478457,31478457,C,T,R010_S,SMTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32188133,32188133,C,T,R010_S,DEPDC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEPDC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32446041,32446041,C,T,R010_S,SLC5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36633715,36633715,C,T,R010_S,APOL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36650086,36650086,G,A,R010_S,APOL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36697171,36697171,G,A,R010_S,MYH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36722564,36722564,C,T,R010_S,MYH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37211093,37211093,C,T,R010_S,PVALB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PVALB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37319274,37319274,C,T,R010_S,CSF2RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSF2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37463018,37463018,G,A,R010_S,TMPRSS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37469505,37469505,C,T,R010_S,TMPRSS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37479071,37479071,C,T,R010_S,TMPRSS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37693788,37693788,G,A,R010_S,CYTH4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37882337,37882337,G,A,R010_S,MFNG,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MFNG,NM_001166343:c.-122C>T;NM_002405:c.-122C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37902395,37902395,G,A,R010_S,CARD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37903790,37903790,G,A,R010_S,CARD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38086635,38086635,G,A,R010_S,NOL12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38245356,38245356,G,A,R010_S,ANKRD54,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ANKRD54;EIF3L,dist=70,NA,NA,.,N,D,.,.,T
chr22,38494212,38494212,G,A,R010_S,BAIAP2L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAIAP2L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38508622,38508622,C,T,R010_S,PLA2G6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39382576,39382576,C,T,R010_S,APOBEC3A_B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC3A_B;APOBEC3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39414127,39414127,G,A,R010_S,APOBEC3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39428413,39428413,C,T,R010_S,APOBEC3D,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,APOBEC3D,NM_001363781:c.*92C>T;NM_152426:c.*92C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39709883,39709883,C,T,R010_S,SNORD83B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNORD83B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39811440,39811440,C,T,R010_S,TAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40054142,40054142,C,T,R010_S,CACNA1I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40757647,40757647,G,A,R010_S,ADSL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41864667,41864667,C,T,R010_S,PHF5A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PHF5A,NM_032758:c.-10G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41999405,41999405,C,T,R010_S,DESI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DESI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42905060,42905060,C,T,R010_S,SERHL,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SERHL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43570165,43570165,G,A,R010_S,TTLL12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43623509,43623509,G,A,R010_S,SCUBE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCUBE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44280255,44280255,C,T,R010_S,PNPLA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44379672,44379672,C,T,R010_S,SAMM50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMM50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44892682,44892682,G,A,R010_S,RTL6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RTL6,NM_032287:c.*35C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44967388,44967388,C,T,R010_S,LINC00207,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00207,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45962030,45962030,G,A,R010_S,FBLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46402965,46402965,C,T,R010_S,LOC730668,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC730668,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46755608,46755608,G,A,R010_S,TRMU,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRMU;CELSR1,dist=2371;dist=1123,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46780415,46780415,G,A,R010_S,CELSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46794574,46794574,C,T,R010_S,CELSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,47057173,47057173,C,T,R010_S,GRAMD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50454879,50454879,G,A,R010_S,IL17REL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IL17REL;TTLL8,dist=3685;dist=2125,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50599308,50599308,G,A,R010_S,MOV10L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOV10L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50694645,50694645,G,A,R010_S,MAPK12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50705626,50705626,G,A,R010_S,MAPK11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50715968,50715968,C,T,R010_S,PLXNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50893862,50893862,G,A,R010_S,SBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50899150,50899150,G,A,R010_S,SBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50926223,50926223,C,T,R010_S,MIOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50943787,50943787,G,A,R010_S,LMF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50964621,50964621,G,A,R010_S,SCO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCO2;TYMP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,51178593,51178593,G,A,R010_S,ACR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15536153,15536153,G,A,R010_S,BMX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19418891,19418891,G,A,R010_S,MAP3K15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,20029291,20029291,G,A,R010_S,MAP7D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP7D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,22132531,22132531,G,A,R010_S,PHEX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHEX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,22266155,22266155,G,A,R010_S,PTCHD1-AS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PTCHD1-AS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24483785,24483785,G,A,R010_S,PDK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,43808927,43808927,G,A,R010_S,NDP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NDP,NM_000266:c.*118C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47083957,47083957,G,A,R010_S,CDK16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47106970,47106970,G,A,R010_S,USP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47464603,47464603,C,T,R010_S,SYN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48399926,48399926,C,T,R010_S,TBC1D25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48823152,48823152,C,T,R010_S,KCND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48858693,48858693,C,T,R010_S,GRIPAP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,GRIPAP1,dist=18,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48887431,48887431,C,T,R010_S,TFE3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TFE3,NM_001282142:c.*238G>A;NM_006521:c.*238G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49066331,49066331,G,A,R010_S,CACNA1F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53584428,53584428,G,A,R010_S,HUWE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54492093,54492093,C,T,R010_S,FGD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54569482,54569482,C,T,R010_S,GNL3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNL3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54578232,54578232,C,T,R010_S,GNL3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNL3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70146685,70146685,G,A,R010_S,SLC7A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70346373,70346373,C,T,R010_S,MED12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73047045,73047045,C,T,R010_S,TSIX,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TSIX;XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73071475,73071475,C,T,R010_S,XIST,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,80377069,80377069,G,A,R010_S,HMGN5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HMGN5,NM_030763:c.-21C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,84571649,84571649,G,A,R010_S,POF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100243427,100243427,C,T,R010_S,ARL13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100500242,100500242,G,A,R010_S,DRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107414697,107414697,G,A,R010_S,COL4A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107826005,107826005,C,T,R010_S,COL4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,109698585,109698585,G,A,R010_S,RTL9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RTL9,NM_020769:c.*36G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117895068,117895068,G,A,R010_S,IL13RA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL13RA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,128781672,128781672,G,A,R010_S,APLN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,APLN,NM_017413:c.*228C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129479285,129479285,G,A,R010_S,SLC25A14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,130192286,130192286,G,A,R010_S,ARHGAP36,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ARHGAP36;LINC01201,dist=34,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133548055,133548055,C,T,R010_S,PHF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133594304,133594304,C,T,R010_S,HPRT1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HPRT1,NM_000194:c.-38C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,137749944,137749944,C,T,R010_S,MIR504,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR504,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,150780240,150780240,C,T,R010_S,PASD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PASD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,150873779,150873779,C,T,R010_S,PRRG3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRRG3;FATE1,dist=3716;dist=10728,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152602131,152602131,C,T,R010_S,ZNF275,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF275,NM_001367757:c.-7C>T;NM_001080485:c.-7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,152609437,152609437,C,T,R010_S,ZNF275,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF275,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153172319,153172319,G,A,R010_S,AVPR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AVPR2,NM_000054:c.*137G>A;NM_001146151:c.*429G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153248301,153248301,C,T,R010_S,TMEM187,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM187,NM_003492:c.*2C>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153664309,153664309,G,A,R010_S,ATP6AP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ATP6AP1,NM_001183:c.*72G>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,154028213,154028213,G,A,R010_S,MPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16974592,16974592,C,T,R011_F,MST1P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MST1P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115216438,115216438,A,G,R011_F,AMPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,146399753,146399753,C,G,R011_F,NBPF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF10;NBPF12;NBPF19;NBPF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207760995,207760995,T,G,R011_F,CR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228523801,228523801,G,T,R011_F,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,130951343,130951343,T,C,R011_F,TUBA3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBA3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,130951344,130951344,G,A,R011_F,TUBA3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBA3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,130987508,130987508,G,T,R011_F,TUBA3E,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TUBA3E;CCDC115,dist=31496;dist=107998,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209188776,209188776,C,T,R011_F,PIKFYVE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIKFYVE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,210794513,210794513,A,C,R011_F,UNC80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,54952358,54952358,T,C,R011_F,LRTM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRTM1,NM_001304389:c.*128A>G;NM_020678:c.*128A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183683082,183683082,G,C,R011_F,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186917311,186917311,A,G,R011_F,LOC101929106,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101929106,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195410426,195410426,T,C,R011_F,SDHAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SDHAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195412864,195412864,G,A,R011_F,SDHAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SDHAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197682651,197682651,G,A,R011_F,RPL35A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPL35A,NM_001316311:c.*7G>A;NM_000996:c.*7G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,13590417,13590417,C,T,R011_F,BOD1L1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,BOD1L1,NM_148894:exon15:c.8210-1G>A,NA,NA,.,.,D,.,.,.
chr5,36183898,36183898,A,G,R011_F,SKP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SKP2,NM_001243120:c.*1765A>G;NM_005983:c.*1765A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,39719575,39719575,C,T,R011_F,LINC02104,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02104;LINC00603,dist=194765;dist=332818,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169145879,169145879,G,A,R011_F,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117858440,117858440,A,G,R011_F,DCBLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCBLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,167786907,167786907,T,C,R011_F,TCP10,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TCP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63674502,63674502,T,C,R011_F,ZNF735,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF735,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63726252,63726252,T,A,R011_F,ZNF679,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF679,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,113558244,113558244,A,G,R011_F,PPP1R3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,72127840,72127840,G,A,R011_F,EYA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,44090306,44090306,A,T,R011_F,CNTNAP3P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CNTNAP3P2;XLOC_007697,dist=166249;dist=91205,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415343,68415343,A,G,R011_F,MIR4477A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4477A;MIR4477B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,89717777,89717777,G,T,R011_F,PTEN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PTEN,NM_000314:exon7:c.801+1G>T;NM_001304717:exon8:c.1320+1G>T;NM_001304718:exon7:c.210+1G>T,NA,NA,.,.,D,.,.,.
chr10,105798040,105798040,T,A,R011_F,COL17A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL17A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49071507,49071507,C,T,R011_F,TRIM49B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM49B;TRIM64C,dist=11978;dist=3759,NA,NA,NA,NA,NA,NA,NA,NA
chr12,92437,92437,C,A,R011_F,WASH8P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,WASH8P;IQSEC3,dist=1174;dist=83496,NA,NA,NA,NA,NA,NA,NA,NA
chr12,92920,92920,C,G,R011_F,WASH8P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,WASH8P;IQSEC3,dist=1657;dist=83013,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9321906,9321906,T,A,R011_F,PZP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PZP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,70329873,70329873,T,G,R011_F,MYRFL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYRFL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132334300,132334300,C,T,R011_F,MMP17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133311986,133311986,C,A,R011_F,ANKLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,20000461,20000461,C,T,R011_F,TPTE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102515257,102515257,C,T,R011_F,WASH3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9792682,9792682,G,A,R011_F,GLP2R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLP2R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60342197,60342197,T,C,R011_F,TBC1D3P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TBC1D3P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2431773,2431773,A,C,R011_F,LMNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22375920,22375920,T,A,R011_F,ZNF676,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF676,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40373893,40373893,C,G,R011_F,FCGBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCGBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54724407,54724407,C,T,R011_F,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54778707,54778707,T,G,R011_F,LILRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42970745,42970745,G,C,R011_F,RRP7BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,RRP7BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106296714,106296714,G,A,R011_F,MORC4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MORC4;RBM41,dist=53272;dist=8404,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106296716,106296716,A,G,R011_F,MORC4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MORC4;RBM41,dist=53274;dist=8402,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16909406,16909406,T,G,R011_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155733045,155733045,C,T,R011_S,GON4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GON4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,130987508,130987508,G,T,R011_S,TUBA3E,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TUBA3E;CCDC115,dist=31496;dist=107998,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164730755,164730755,G,A,R011_S,SI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,140188260,140188260,C,T,R011_S,MGARP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGARP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36183898,36183898,A,G,R011_S,SKP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SKP2,NM_001243120:c.*1765A>G;NM_005983:c.*1765A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6919442,6919442,T,A,R011_S,CCZ1B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CCZ1B;MIR3683,dist=53516;dist=187153,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44032633,44032633,C,T,R011_S,POLR2J4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,POLR2J4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,113558244,113558244,A,G,R011_S,PPP1R3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,171901,171901,T,A,R011_S,CBWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,44090306,44090306,A,T,R011_S,CNTNAP3P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CNTNAP3P2;XLOC_007697,dist=166249;dist=91205,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49190917,49190917,C,G,R011_S,FOLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133311986,133311986,C,A,R011_S,ANKLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15517361,15517361,G,A,R011_S,CDRT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDRT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28898298,28898298,T,C,R011_S,GOSR1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GOSR1;SMURF2P1-LRRC37BP1,dist=43688;dist=5185,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78178189,78178189,G,A,R011_S,CARD14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44977394,44977394,C,A,R011_S,ZNF229,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF229;ZNF180,dist=24628;dist=1270,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6705012,6705012,C,T,R012_F,DNAJC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7809927,7809927,G,C,R012_F,CAMTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62274004,62274004,G,A,R012_F,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62374170,62374170,T,C,R012_F,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,82459888,82459888,C,A,R012_F,ADGRL2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,ADGRL2,dist=272,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120267545,120267545,G,A,R012_F,PHGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159779044,159779044,G,A,R012_F,FCRL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,197141253,197141253,A,C,R012_F,ZBTB41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225607394,225607394,G,A,R012_F,LBR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LBR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230372362,230372362,A,T,R012_F,GALNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27547320,27547320,G,A,R012_F,MPV17,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MPV17;GTF3C2,dist=1356;dist=1396,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97527403,97527403,G,A,R012_F,SEMA4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111526090,111526090,T,A,R012_F,ACOXL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,189862542,189862542,T,C,R012_F,COL3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191208730,191208730,G,A,R012_F,INPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP1,NA,NA,NA,D,.,N,T,N,T
chr2,223489538,223489538,T,C,R012_F,FARSB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARSB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242624315,242624315,G,A,R012_F,DTYMK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTYMK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242624340,242624340,G,C,R012_F,DTYMK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTYMK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,46940054,46940054,C,A,R012_F,PTH1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTH1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142562035,142562035,A,T,R012_F,PCOLCE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCOLCE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184675316,184675316,C,T,R012_F,VPS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195298075,195298075,C,A,R012_F,APOD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2260511,2260511,C,T,R012_F,MXD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MXD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,28364156,28364156,G,T,R012_F,LINC02261,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02261;MIR4275,dist=1080309;dist=457048,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74272531,74272531,G,A,R012_F,ALB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78529022,78529022,C,T,R012_F,CXCL13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXCL13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89312100,89312100,G,T,R012_F,HERC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,96169639,96169639,T,A,R012_F,UNC5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,169048833,169048833,T,G,R012_F,ANXA10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,23527943,23527943,C,G,R012_F,PRDM9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRDM9,NM_020227:c.*61C>G;NM_001310214:c.*61C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,39364470,39364470,C,A,R012_F,C9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,114515898,114515898,G,A,R012_F,TRIM36,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TRIM36,NM_001300752:c.-32974C>T;NM_018700:c.-164C>T;NM_001017397:c.-164C>T;NM_001017398:c.-164C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,49976715,49976715,A,G,R012_F,DEFB110,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,DEFB110,dist=136,NA,NA,NA,NA,NA,NA,NA,NA
chr6,53160343,53160343,G,T,R012_F,ELOVL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELOVL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,138192280,138192280,G,T,R012_F,TNFAIP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFAIP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99769319,99769319,G,A,R012_F,GPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141840581,141840581,T,C,R012_F,MGAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27509148,27509148,A,G,R012_F,SCARA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCARA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62366951,62366951,C,T,R012_F,CLVS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLVS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86352139,86352139,G,T,R012_F,CA3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CA3,NM_005181:exon2:c.232+1G>T,NA,NA,.,.,D,.,.,.
chr8,134471988,134471988,T,C,R012_F,ST3GAL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ST3GAL1,NM_003033:c.*19A>G;NM_173344:c.*19A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr9,96857837,96857837,A,G,R012_F,PTPDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,403912,403912,A,G,R012_F,DIP2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIP2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,4867216,4867216,T,A,R012_F,MANCR,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MANCR;AKR1E2,dist=146954;dist=1153,NA,NA,D,.,.,T,N,T
chr10,50178368,50178368,G,A,R012_F,WDFY4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDFY4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,54031025,54031025,C,T,R012_F,PRKG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97969683,97969683,A,G,R012_F,BLNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,43400946,43400946,G,C,R012_F,TTC17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70779300,70779300,C,T,R012_F,SHANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108362024,108362024,T,C,R012_F,POGLUT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POGLUT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,129734577,129734577,C,A,R012_F,NFRKB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NFRKB,NM_001143835:c.*43G>T;NM_006165:c.*43G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1953870,1953870,A,C,R012_F,CACNA2D4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,22001030,22001030,C,G,R012_F,ABCC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27648581,27648581,T,C,R012_F,SMCO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMCO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31354017,31354017,C,A,R012_F,OVOS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OVOS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,39124259,39124259,C,T,R012_F,CPNE8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48132915,48132915,A,C,R012_F,RAPGEF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52710816,52710816,G,A,R012_F,KRT83,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT83,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,130387708,130387708,G,C,R012_F,TMEM132D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM132D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51214616,51214616,C,A,R012_F,NIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69262574,69262574,G,A,R012_F,ZFP36L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP36L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,90358206,90358206,G,A,R012_F,EFCAB11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100406479,100406479,G,A,R012_F,EML1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EML1,NM_001008707:c.*30G>A;NM_004434:c.*30G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106518704,106518704,C,T,R012_F,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=80346;dist=225565,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40068590,40068590,C,T,R012_F,FSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69689989,69689989,T,C,R012_F,LOC145694,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC145694,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101826902,101826902,T,C,R012_F,SNRPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30004880,30004880,T,A,R012_F,HIRIP3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,HIRIP3,NM_001197323:exon5:c.471-2A>T;NM_003609:exon6:c.1409-2A>T,NA,NA,.,.,D,.,.,.
chr16,53721744,53721744,T,G,R012_F,RPGRIP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPGRIP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26965173,26965173,T,G,R012_F,KIAA0100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28890301,28890301,G,A,R012_F,GOSR1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GOSR1;SMURF2P1-LRRC37BP1,dist=35691;dist=13182,NA,NA,.,.,D,.,.,T
chr17,33316744,33316744,C,A,R012_F,LIG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61656889,61656889,C,A,R012_F,DCAF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67014043,67014043,C,A,R012_F,ABCA9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ABCA9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,5410510,5410510,C,G,R012_F,EPB41L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3113577,3113577,C,T,R012_F,GNA11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNA11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9080417,9080417,G,A,R012_F,MUC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11277175,11277175,G,T,R012_F,KANK2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KANK2,NM_015493:c.*59C>A;NM_001329451:c.*59C>A;NM_001136191:c.*59C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14508133,14508133,A,G,R012_F,ADGRE5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41758659,41758659,G,T,R012_F,AXL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50001103,50001103,C,T,R012_F,RPS11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43940814,43940814,C,T,R012_F,RBPJL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBPJL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47612599,47612599,G,A,R012_F,LSS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26083647,26083647,G,A,R012_F,GRK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,31222063,31222063,A,C,R012_F,DMD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6705012,6705012,C,T,R012_S,DNAJC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16461448,16461448,T,C,R012_S,EPHA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24486227,24486227,G,T,R012_S,IFNLR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFNLR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62274004,62274004,G,A,R012_S,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,93687511,93687511,T,G,R012_S,CCDC18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,111889132,111889132,A,G,R012_S,PIFO,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PIFO,dist=50,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120267545,120267545,G,A,R012_S,PHGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159779044,159779044,G,A,R012_S,FCRL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,192987851,192987851,T,G,R012_S,UCHL5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UCHL5,NM_001350852:c.*91A>C;NM_001199262:c.*136A>C;NM_001199263:c.*91A>C;NM_001350845:c.*91A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204242896,204242896,G,T,R012_S,PLEKHA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,213139202,213139202,G,A,R012_S,VASH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VASH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230372362,230372362,A,T,R012_S,GALNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27547320,27547320,G,A,R012_S,MPV17,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MPV17;GTF3C2,dist=1356;dist=1396,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31401370,31401370,T,A,R012_S,CAPN14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61238844,61238844,A,G,R012_S,PUS10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUS10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120690218,120690218,C,T,R012_S,PTPN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158291359,158291359,T,A,R012_S,CYTIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,189862542,189862542,T,C,R012_S,COL3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38798405,38798405,C,T,R012_S,SCN10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47460437,47460437,C,A,R012_S,SCAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49738261,49738261,C,A,R012_S,RNF123,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF123,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53855673,53855673,C,T,R012_S,CHDH,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CHDH,NM_018397:exon5:c.985+1G>A,NA,NA,.,.,D,.,.,.
chr3,97731468,97731468,C,T,R012_S,GABRR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111651109,111651109,A,C,R012_S,PHLDB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLDB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,155215310,155215310,T,C,R012_S,PLCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2260511,2260511,C,T,R012_S,MXD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MXD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3225615,3225615,T,C,R012_S,HTT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68905261,68905261,G,A,R012_S,TMPRSS11GP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TMPRSS11GP;TMPRSS11F,dist=42104;dist=13655,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74272531,74272531,G,A,R012_S,ALB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,96169639,96169639,T,A,R012_S,UNC5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,187197381,187197381,G,A,R012_S,F11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,23527943,23527943,C,G,R012_S,PRDM9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRDM9,NM_020227:c.*61C>G;NM_001310214:c.*61C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,42759379,42759379,T,A,R012_S,CCDC152,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC152,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,114515898,114515898,G,A,R012_S,TRIM36,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TRIM36,NM_001300752:c.-32974C>T;NM_018700:c.-164C>T;NM_001017397:c.-164C>T;NM_001017398:c.-164C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13604932,13604932,C,T,R012_S,SIRT5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SIRT5,NM_031244:c.*182C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr6,121767959,121767959,G,A,R012_S,GJA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GJA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136582203,136582203,T,C,R012_S,BCLAF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BCLAF1,NM_001077441:c.*45A>G;NM_001363659:c.*45A>G;NM_014739:c.*45A>G;NM_001301038:c.*45A>G;NM_001077440:c.*45A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr6,138645103,138645103,C,G,R012_S,ARFGEF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGEF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,150157466,150157466,G,A,R012_S,LRP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,166783107,166783107,T,C,R012_S,MPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99769319,99769319,G,A,R012_S,GPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127292204,127292204,G,A,R012_S,SND1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SND1,dist=44,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10971482,10971482,C,T,R012_S,XKR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XKR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,23432172,23432172,C,G,R012_S,SLC25A37,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC25A37,NM_001317814:c.*2804C>G;NM_016612:c.*2804C>G;NM_001317812:c.*2804C>G;NM_001317813:c.*2804C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27509148,27509148,A,G,R012_S,SCARA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCARA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62366951,62366951,C,T,R012_S,CLVS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLVS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,134471988,134471988,T,C,R012_S,ST3GAL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ST3GAL1,NM_003033:c.*19A>G;NM_173344:c.*19A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143959067,143959067,G,A,R012_S,CYP11B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP11B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35744287,35744287,C,T,R012_S,GBA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79954932,79954932,T,G,R012_S,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131317563,131317563,C,G,R012_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137007617,137007617,G,A,R012_S,WDR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,403912,403912,A,G,R012_S,DIP2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIP2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,42928876,42928876,A,G,R012_S,CCNYL2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCNYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,54031025,54031025,C,T,R012_S,PRKG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97969683,97969683,A,G,R012_S,BLNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,56058539,56058539,G,A,R012_S,OR8H1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OR8H1,dist=1,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70779300,70779300,C,T,R012_S,SHANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77930535,77930535,G,A,R012_S,GAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108362024,108362024,T,C,R012_S,POGLUT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POGLUT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126135559,126135559,C,G,R012_S,SRPRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRPRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126551618,126551618,A,G,R012_S,LOC101929427,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929427,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,129734577,129734577,C,A,R012_S,NFRKB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NFRKB,NM_001143835:c.*43G>T;NM_006165:c.*43G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,22001030,22001030,C,G,R012_S,ABCC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27648581,27648581,T,C,R012_S,SMCO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMCO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31354017,31354017,C,A,R012_S,OVOS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OVOS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80848795,80848795,T,C,R012_S,PTPRQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,34404178,34404178,A,G,R012_S,RFC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69262574,69262574,G,A,R012_S,ZFP36L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFP36L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,70714259,70714259,A,G,R012_S,ADAM21P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ADAM21P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,90358206,90358206,G,A,R012_S,EFCAB11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,30699967,30699967,A,G,R012_S,GOLGA8R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA8R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40068590,40068590,C,T,R012_S,FSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2287023,2287023,C,T,R012_S,DNASE1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNASE1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,53721744,53721744,T,G,R012_S,RPGRIP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPGRIP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70814892,70814892,C,T,R012_S,VAC14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAC14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,72097279,72097279,T,C,R012_S,HPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,87435987,87435987,A,G,R012_S,MAP1LC3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP1LC3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,641336,641336,C,T,R012_S,TLCD3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLCD3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26965173,26965173,T,G,R012_S,KIAA0100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67014043,67014043,C,A,R012_S,ABCA9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ABCA9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71239229,71239229,T,G,R012_S,C17orf80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C17orf80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,81083522,81083522,T,C,R012_S,METRNL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,METRNL;RPL23AP87,dist=30651;dist=91144,NA,NA,NA,NA,NA,NA,NA,NA
chr18,5410510,5410510,C,G,R012_S,EPB41L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21396200,21396200,A,C,R012_S,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3113577,3113577,C,T,R012_S,GNA11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNA11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8553385,8553385,C,T,R012_S,HNRNPM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11277175,11277175,G,T,R012_S,KANK2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KANK2,NM_015493:c.*59C>A;NM_001329451:c.*59C>A;NM_001136191:c.*59C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14508133,14508133,A,G,R012_S,ADGRE5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46141972,46141972,A,T,R012_S,EML2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50001103,50001103,C,T,R012_S,RPS11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31886909,31886909,C,T,R012_S,BPIFB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46901764,46901764,C,T,R012_S,COL18A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47612599,47612599,G,A,R012_S,LSS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LSS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22516969,22516969,G,A,R012_S,PRAMENP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PRAMENP;VPREB1,dist=118637;dist=82229,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26083647,26083647,G,A,R012_S,GRK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38246265,38246265,A,T,R012_S,EIF3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50926682,50926682,G,T,R012_S,MIOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1115739,1115739,C,T,R013_F,TTLL10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12390087,12390087,C,T,R013_F,VPS13D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22920205,22920205,G,A,R013_F,EPHA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38189055,38189055,G,T,R013_F,EPHA10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,162773396,162773396,G,A,R013_F,HSD17B7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237205765,237205765,G,A,R013_F,RYR2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RYR2,NM_001035:c.-57G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247024615,247024615,G,C,R013_F,AHCTF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHCTF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73851814,73851814,G,A,R013_F,ALMS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ALMS1;NAT8,dist=14768;dist=16036,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153032233,153032233,C,G,R013_F,STAM2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STAM2,NM_005843:c.-77G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234085782,234085782,G,A,R013_F,INPP5D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234085855,234085855,G,A,R013_F,INPP5D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48453478,48453478,C,T,R013_F,PLXNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,93733197,93733197,G,A,R013_F,ARL13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113634412,113634412,T,C,R013_F,GRAMD1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,175598596,175598596,C,T,R013_F,GLRA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLRA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,1742593,1742593,C,A,R013_F,GMDS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GMDS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24486419,24486419,C,T,R013_F,GPLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,170858285,170858285,G,A,R013_F,PSMB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,170858299,170858299,G,C,R013_F,PSMB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50607785,50607785,G,A,R013_F,DDC-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DDC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92252418,92252418,C,T,R013_F,CDK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100390209,100390209,C,T,R013_F,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41132651,41132651,G,A,R013_F,SFRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,57218320,57218320,A,G,R013_F,SDR16C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDR16C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82736229,82736229,T,C,R013_F,SNX16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144391473,144391473,G,A,R013_F,TOP1MT,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,TOP1MT,dist=24,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145113315,145113315,C,G,R013_F,OPLAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPLAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,146076870,146076870,C,T,R013_F,COMMD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMMD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,21968346,21968346,T,C,R013_F,CDKN2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKN2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,21968355,21968355,T,C,R013_F,CDKN2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKN2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2433327,2433327,G,A,R013_F,TRPM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60482742,60482742,C,T,R013_F,MS4A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62848980,62848980,T,C,R013_F,SLC22A24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67048673,67048673,C,T,R013_F,GRK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,13152785,13152785,C,T,R013_F,GPRC5D-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GPRC5D-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109354898,109354898,C,T,R013_F,SVOP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVOP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94915207,94915207,C,T,R013_F,SERPINA11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINA11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23807145,23807145,T,C,R013_F,MIR4508,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR4508,dist=64,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42632965,42632965,G,T,R013_F,GANC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GANC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43594572,43594572,G,A,R013_F,TGM7,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TGM7,dist=119,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45980713,45980713,C,T,R013_F,SQOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SQOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,54914448,54914448,T,A,R013_F,UNC13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1246165,1246165,C,T,R013_F,CACNA1H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,34489996,34489996,C,T,R013_F,LOC112268173,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC112268173;LINC01566,dist=58077;dist=107791,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50751005,50751005,G,A,R013_F,NOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88099129,88099129,G,A,R013_F,BANP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BANP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12812307,12812307,C,T,R013_F,ARHGAP44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42219338,42219338,C,A,R013_F,C17orf53,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C17orf53,NM_001171251:c.-173C>A;NM_001321310:c.-173C>A;NM_024032:c.-173C>A;NM_001321311:c.-173C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43196123,43196123,G,A,R013_F,PLCD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12067147,12067147,G,A,R013_F,IMPA2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IMPA2;ANKRD62,dist=36271;dist=26695,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14784319,14784319,C,A,R013_F,ANKRD30B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD30B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2206913,2206913,G,C,R013_F,DOT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6418185,6418185,G,A,R013_F,KHSRP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KHSRP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,30017755,30017755,C,T,R013_F,VSTM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41628881,41628881,C,G,R013_F,CYP2F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45643713,45643713,A,G,R013_F,PPP1R37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43586987,43586987,C,T,R013_F,TOMM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOMM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17559893,17559893,G,T,R013_F,MIR99AHG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR99AHG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,19701709,19701709,C,G,R013_F,TMPRSS15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,22841125,22841125,C,G,R013_F,NCAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17473187,17473187,C,T,R013_F,GAB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,21861265,21861265,T,C,R013_F,MBTPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBTPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,55172491,55172491,G,T,R013_F,FAM104B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FAM104B,NM_001166703:c.*26C>A;NM_001166702:c.*26C>A;NM_001166700:c.*26C>A;NM_001166701:c.*26C>A;NM_001166704:c.*240C>A,NA,NA,NA,NA,NA,NA,NA,NA
chrX,85119537,85119537,T,A,R013_F,CHM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CHM,NM_001320959:c.*98A>T;NM_001362518:c.*98A>T;NM_001362519:c.*98A>T;NM_001362517:c.*98A>T;NM_000390:c.*98A>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100098892,100098892,T,C,R013_F,NOX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NOX1,NM_007052:c.*49A>G;NM_013955:c.*49A>G;NM_001271815:c.*49A>G,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100613521,100613521,A,G,R013_F,BTK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153647869,153647869,C,A,R013_F,TAZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12390087,12390087,C,T,R013_S,VPS13D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22920205,22920205,G,A,R013_S,EPHA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,34643330,34643330,G,A,R013_S,C1orf94,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C1orf94,NM_001134734:c.-61G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38189055,38189055,G,T,R013_S,EPHA10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,209790152,209790152,G,T,R013_S,LAMB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237205765,237205765,G,A,R013_S,RYR2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RYR2,NM_001035:c.-57G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247024615,247024615,G,C,R013_S,AHCTF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHCTF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73851814,73851814,G,A,R013_S,ALMS1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ALMS1;NAT8,dist=14768;dist=16036,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153032233,153032233,C,G,R013_S,STAM2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STAM2,NM_005843:c.-77G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234085782,234085782,G,A,R013_S,INPP5D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234085855,234085855,G,A,R013_S,INPP5D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48453478,48453478,C,T,R013_S,PLXNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,56707549,56707549,T,G,R013_S,TASOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TASOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,93733197,93733197,G,A,R013_S,ARL13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183861482,183861482,G,A,R013_S,EIF2B5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2B5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186393122,186393122,C,G,R013_S,HRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,70936401,70936401,G,A,R013_S,CSN1S2AP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CSN1S2AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79199941,79199941,C,A,R013_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127595129,127595129,G,C,R013_S,FBN2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FBN2,NM_001999:c.*18C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,153149692,153149692,C,T,R013_S,GRIA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,1742593,1742593,C,A,R013_S,GMDS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GMDS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24486419,24486419,C,T,R013_S,GPLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,75901400,75901400,G,C,R013_S,COL12A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL12A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,170858285,170858285,G,A,R013_S,PSMB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,170858299,170858299,G,C,R013_S,PSMB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23943962,23943962,G,A,R013_S,STK31,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,STK31;NPY,dist=71832;dist=379847,NA,NA,NA,NA,NA,NA,NA,NA
chr7,34183027,34183027,G,A,R013_S,BMPER,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMPER,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,46732290,46732290,G,A,R013_S,LOC730338,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC730338,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50607785,50607785,G,A,R013_S,DDC-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DDC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92252418,92252418,C,T,R013_S,CDK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100390209,100390209,C,T,R013_S,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150820790,150820790,G,C,R013_S,AGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41132651,41132651,G,A,R013_S,SFRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82736229,82736229,T,C,R013_S,SNX16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,85097398,85097398,T,C,R013_S,RALYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133051465,133051465,C,T,R013_S,OC90,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OC90,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144391473,144391473,G,A,R013_S,TOP1MT,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,TOP1MT,dist=24,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145113315,145113315,C,G,R013_S,OPLAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPLAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,21968346,21968346,T,C,R013_S,CDKN2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKN2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95381994,95381994,G,A,R013_S,LOC100128361,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100128361,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112704893,112704893,C,A,R013_S,PALM2-AKAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PALM2-AKAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2433327,2433327,G,A,R013_S,TRPM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47755742,47755742,C,T,R013_S,FNBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60482742,60482742,C,T,R013_S,MS4A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71806717,71806717,C,T,R013_S,LRTOMT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRTOMT,NM_001205138:c.*151C>T;NM_001271471:c.*571C>T;NM_001318803:c.*151C>T;NM_145309:c.*151C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,13152785,13152785,C,T,R013_S,GPRC5D-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GPRC5D-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109354898,109354898,C,T,R013_S,SVOP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVOP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,41905532,41905532,T,C,R013_S,NAA16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101512288,101512288,G,A,R013_S,MIR381,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR381,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106877637,106877637,A,G,R013_S,LINC00226,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00226;LINC00221,dist=132671;dist=60808,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23807145,23807145,T,C,R013_S,MIR4508,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR4508,dist=64,NA,NA,NA,NA,NA,NA,NA,NA
chr15,54914448,54914448,T,A,R013_S,UNC13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1246165,1246165,C,T,R013_S,CACNA1H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19514947,19514947,A,T,R013_S,GDE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,34489996,34489996,C,T,R013_S,LOC112268173,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC112268173;LINC01566,dist=58077;dist=107791,NA,NA,NA,NA,NA,NA,NA,NA
chr16,50751005,50751005,G,A,R013_S,NOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88099129,88099129,G,A,R013_S,BANP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BANP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8646850,8646850,G,A,R013_S,CCDC42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42219338,42219338,C,A,R013_S,C17orf53,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C17orf53,NM_001171251:c.-173C>A;NM_001321310:c.-173C>A;NM_024032:c.-173C>A;NM_001321311:c.-173C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56232358,56232358,G,A,R013_S,OR4D1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OR4D1,dist=157,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12067147,12067147,G,A,R013_S,IMPA2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IMPA2;ANKRD62,dist=36271;dist=26695,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14784319,14784319,C,A,R013_S,ANKRD30B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD30B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2206913,2206913,G,C,R013_S,DOT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4212812,4212812,C,T,R013_S,ANKRD24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6418185,6418185,G,A,R013_S,KHSRP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KHSRP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41628881,41628881,C,G,R013_S,CYP2F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51331249,51331249,C,T,R013_S,KLK15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLK15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58310638,58310638,G,T,R013_S,ZNF586,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF586;ZNF552,dist=18654;dist=7812,NA,NA,.,.,.,T,.,.
chr20,42635035,42635035,G,A,R013_S,TOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43586987,43586987,C,T,R013_S,TOMM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOMM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,55092314,55092314,C,T,R013_S,GCNT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCNT7;RTF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,22841125,22841125,C,G,R013_S,NCAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22735316,22735316,A,G,R013_S,BMS1P20,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,BMS1P20;ZNF280B,dist=57992;dist=103455,NA,NA,NA,NA,NA,NA,NA,NA
chrX,21861265,21861265,T,C,R013_S,MBTPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBTPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,85119537,85119537,T,A,R013_S,CHM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CHM,NM_001320959:c.*98A>T;NM_001362518:c.*98A>T;NM_001362519:c.*98A>T;NM_001362517:c.*98A>T;NM_000390:c.*98A>T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,96213254,96213254,C,G,R013_S,DIAPH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIAPH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100098892,100098892,T,C,R013_S,NOX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NOX1,NM_007052:c.*49A>G;NM_013955:c.*49A>G;NM_001271815:c.*49A>G,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100613521,100613521,A,G,R013_S,BTK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1653928,1653928,C,T,R014_F,CDK11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11A;CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10394765,10394765,G,A,R014_F,KIF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40562645,40562645,G,C,R014_F,PPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44386046,44386046,C,T,R014_F,ST3GAL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST3GAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45291914,45291914,G,A,R014_F,PTCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,85498525,85498525,G,A,R014_F,MCOLN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCOLN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,152784876,152784876,T,C,R014_F,LCE1B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LCE1B,NM_178349:c.-47T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153431342,153431342,G,A,R014_F,S100A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,S100A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156012717,156012717,G,A,R014_F,UBQLN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBQLN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168025607,168025607,C,T,R014_F,DCAF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,171168706,171168706,C,T,R014_F,FMO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,175292660,175292660,C,T,R014_F,TNR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179095450,179095450,G,A,R014_F,ABL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,234452307,234452307,G,A,R014_F,SLC35F3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35F3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1544754,1544754,G,A,R014_F,TPO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11924158,11924158,C,T,R014_F,LPIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26690129,26690129,G,A,R014_F,OTOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,33011944,33011944,C,T,R014_F,TTC27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,33952679,33952679,C,T,R014_F,MYADML,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MYADML,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38976410,38976410,G,A,R014_F,SRSF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRSF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80389998,80389998,A,T,R014_F,CTNNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91927415,91927415,C,T,R014_F,LOC101927050,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101927050;GGT8P,dist=27279;dist=35953,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95542525,95542525,G,A,R014_F,LOC442028,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC442028,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102033919,102033919,C,T,R014_F,RFX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,121991603,121991603,C,T,R014_F,TFCP2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFCP2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,151343970,151343970,C,G,R014_F,RND3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RND3,NM_005168:exon2:UTR5,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162364232,162364232,C,T,R014_F,AHCTF1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,AHCTF1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171264204,171264204,C,T,R014_F,MYO3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215661976,215661976,T,C,R014_F,BARD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BARD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217123959,217123959,G,A,R014_F,MARCHF4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MARCHF4,NM_020814:c.*76C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,218925279,218925279,C,T,R014_F,CXCR2P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CXCR2P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219320258,219320258,C,T,R014_F,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37090514,37090514,G,C,R014_F,MLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42784571,42784571,G,A,R014_F,CCDC13-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCDC13-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50150763,50150763,G,A,R014_F,RBM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52538968,52538968,G,A,R014_F,STAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53781271,53781271,C,T,R014_F,CACNA1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,98309740,98309740,C,T,R014_F,CPOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148778516,148778516,G,T,R014_F,HLTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197348562,197348562,A,G,R014_F,LOC220729,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC220729,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197348563,197348563,G,T,R014_F,LOC220729,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC220729,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1164184,1164184,C,T,R014_F,SPON2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPON2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25315849,25315849,C,T,R014_F,ZCCHC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74442095,74442095,C,T,R014_F,RASSF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASSF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77022117,77022117,C,T,R014_F,ART3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ART3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79103135,79103135,G,A,R014_F,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,141488887,141488887,G,A,R014_F,UCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904057,190904057,C,T,R014_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=19711;dist=41449,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1410001,1410001,G,A,R014_F,SLC6A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36183898,36183898,A,G,R014_F,SKP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SKP2,NM_001243120:c.*1765A>G;NM_005983:c.*1765A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178395750,178395750,G,A,R014_F,ZNF454,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF454;GRM6,dist=2316;dist=9580,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51909747,51909747,G,A,R014_F,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,75840567,75840567,C,T,R014_F,COL12A1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,COL12A1,NM_004370:exon36:c.6067+1G>A;NM_080645:exon21:c.2575+1G>A,NA,NA,.,.,D,.,.,.
chr6,146480386,146480386,G,A,R014_F,GRM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2411632,2411632,C,T,R014_F,EIF3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,3180786,3180786,T,C,R014_F,LOC100129603,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100129603,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5096870,5096870,G,A,R014_F,RBAK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBAK;RBAK-RBAKDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48335557,48335557,T,C,R014_F,ABCA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63020706,63020706,C,T,R014_F,LOC100287834,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100287834;MIR4283-1,dist=161287;dist=60762,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99077250,99077250,G,C,R014_F,ZNF789,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF789,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100485503,100485503,C,T,R014_F,SRRT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,101559604,101559604,C,T,R014_F,CUX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105516198,105516198,G,A,R014_F,ATXN7L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN7L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128369870,128369870,G,A,R014_F,FAM71F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM71F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128766919,128766919,C,T,R014_F,LOC407835,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC407835,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142481702,142481702,A,G,R014_F,PRSS3P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PRSS3P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149419790,149419790,C,T,R014_F,KRBA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRBA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151716706,151716706,C,T,R014_F,GALNTL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNTL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155477557,155477557,C,T,R014_F,RBM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30361749,30361749,C,T,R014_F,RBPMS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBPMS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,51664530,51664530,C,T,R014_F,SNTG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNTG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,73951476,73951476,G,A,R014_F,TERF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TERF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35805811,35805811,G,A,R014_F,NPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415355,68415355,C,T,R014_F,MIR4477A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4477A;MIR4477B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415454,68415454,G,A,R014_F,MIR4477A,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4477A;LINC00537;MIR4477B,dist=66;dist=66,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69432779,69432779,A,T,R014_F,ANKRD20A4-ANKRD20A20P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ANKRD20A4-ANKRD20A20P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,90388140,90388140,G,A,R014_F,CTSL3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CTSL3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,109694622,109694622,C,T,R014_F,ZNF462,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF462,NA,NA,NA,D,.,D,T,N,T
chr9,112166690,112166690,C,T,R014_F,PTPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113148125,113148125,T,A,R014_F,SVEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131763741,131763741,G,A,R014_F,NUP188,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132719787,132719787,G,A,R014_F,FNBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136337314,136337314,G,A,R014_F,SLC2A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137020384,137020384,G,A,R014_F,WDR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140672263,140672263,C,T,R014_F,EHMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6557129,6557129,C,T,R014_F,PRKCQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,11791610,11791610,C,T,R014_F,ECHDC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECHDC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13743256,13743256,G,A,R014_F,FRMD4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15175026,15175026,C,T,R014_F,NMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,93031470,93031470,G,A,R014_F,PCGF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCGF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95101680,95101680,G,A,R014_F,MYOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114170290,114170290,A,G,R014_F,ACSL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115529470,115529470,C,T,R014_F,PLEKHS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,116228027,116228027,G,A,R014_F,ABLIM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABLIM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,131905728,131905728,T,A,R014_F,CTAGE7P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CTAGE7P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,320440,320440,G,A,R014_F,IFITM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFITM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1018797,1018797,G,A,R014_F,MUC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2542729,2542729,G,A,R014_F,KCNQ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,10653484,10653484,C,T,R014_F,MRVI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRVI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,12534738,12534738,G,A,R014_F,PARVA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARVA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,13391388,13391388,C,T,R014_F,ARNTL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNTL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17425968,17425968,G,A,R014_F,ABCC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,34981888,34981888,G,A,R014_F,PDHX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDHX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,36615733,36615733,C,T,R014_F,RAG2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RAG2,NM_000536:c.-15G>A;NM_001243785:c.-15G>A;NM_001243786:c.-15G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75134707,75134707,C,T,R014_F,KLHL35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,83544866,83544866,C,T,R014_F,DLG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102496115,102496115,C,T,R014_F,MMP20,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MMP20,dist=52,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118968934,118968934,G,A,R014_F,DPAGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPAGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,120811033,120811033,C,T,R014_F,GRIK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134019082,134019082,G,A,R014_F,JAM3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,JAM3,NM_001205329:c.*6G>A;NM_032801:c.*6G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6646400,6646400,C,T,R014_F,GAPDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAPDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9463677,9463677,G,A,R014_F,LOC642846,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC642846,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31241839,31241839,T,C,R014_F,DDX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40821148,40821148,G,A,R014_F,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,43887084,43887084,T,C,R014_F,ADAMTS20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48367800,48367800,G,A,R014_F,COL2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111057771,111057771,C,T,R014_F,TCTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121097819,121097819,G,A,R014_F,CABP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CABP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,26144889,26144889,C,T,R014_F,ATP8A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,33683962,33683962,C,T,R014_F,STARD13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STARD13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,51957612,51957612,C,T,R014_F,INTS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95227128,95227128,C,A,R014_F,TGDS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGDS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99449541,99449541,G,A,R014_F,DOCK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,107516191,107516191,G,A,R014_F,LINC00443,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00443;FAM155A,dist=191663;dist=299668,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22294136,22294136,C,T,R014_F,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=154904;dist=553672,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58818093,58818093,C,T,R014_F,ARID4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92562882,92562882,C,T,R014_F,ATXN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106134808,106134808,G,A,R014_F,MIR8071-1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR8071-1;ELK2AP,dist=28239;dist=1106,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106236301,106236301,C,T,R014_F,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=97157;dist=87992,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106452689,106452689,G,A,R014_F,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=14331;dist=291580,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106725448,106725448,C,A,R014_F,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=287090;dist=18821,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20433937,20433937,C,T,R014_F,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;CHEK2P2,dist=NONE;dist=54060,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44028396,44028396,C,T,R014_F,CATSPER2P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CATSPER2P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,67995561,67995561,G,A,R014_F,MAP2K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,79045519,79045519,C,T,R014_F,LOC646938,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC646938,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90814358,90814358,G,A,R014_F,NGRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NGRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101826505,101826505,C,T,R014_F,SNRPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1994810,1994810,G,A,R014_F,RPL3L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPL3L,NM_005061:c.*28C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2104481,2104481,C,T,R014_F,TSC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19067843,19067843,C,T,R014_F,TMC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21823606,21823606,C,T,R014_F,RRN3P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_splicing,RRN3P1,NR_003370:exon5:c.449+1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29367127,29367127,C,T,R014_F,SNX29P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNX29P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56873028,56873028,C,T,R014_F,NUP93,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP93,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84189379,84189379,G,A,R014_F,DNAAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3974329,3974329,C,T,R014_F,ZZEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7077690,7077690,T,C,R014_F,ASGR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASGR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7736337,7736337,C,T,R014_F,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10227261,10227261,C,T,R014_F,MYH13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18394394,18394394,G,A,R014_F,LGALS9C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS9C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29672558,29672558,G,A,R014_F,NF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29848821,29848821,G,A,R014_F,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40140703,40140703,C,G,R014_F,DNAJC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72445568,72445568,C,T,R014_F,GPRC5C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPRC5C,NM_001366261:c.*62C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21508038,21508038,G,A,R014_F,LAMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,804763,804763,C,T,R014_F,PTBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5775339,5775339,G,A,R014_F,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9272112,9272112,G,A,R014_F,ZNF317,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF317,NM_001190791:c.*3G>A;NM_020933:c.*3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14522288,14522288,G,A,R014_F,DDX39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16232460,16232460,C,T,R014_F,RAB8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35978293,35978293,C,T,R014_F,KRTDAP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTDAP,NM_207392:c.*37G>A;NM_001244847:c.*37G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48525288,48525288,C,T,R014_F,ELSPBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELSPBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54697322,54697322,G,A,R014_F,TSEN34,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TSEN34,NM_024075:c.*105G>A;NM_001282332:c.*105G>A;NM_001077446:c.*105G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1106370,1106370,G,A,R014_F,PSMF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2640631,2640631,C,T,R014_F,IDH3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDH3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,23667873,23667873,G,A,R014_F,CST4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CST4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33147722,33147722,G,A,R014_F,MAP1LC3A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAP1LC3A,NM_181509:c.*20G>A;NM_032514:c.*20G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35425284,35425284,C,T,R014_F,SOGA1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SOGA1,NM_199181:exon13:c.2768+1G>A;NM_080627:exon13:c.3482+1G>A,NA,NA,.,.,D,.,.,.
chr20,35651008,35651008,G,A,R014_F,RBL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36014578,36014578,G,A,R014_F,SRC,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SRC,NM_005417:exon5:c.350+1G>A;NM_198291:exon5:c.350+1G>A,NA,NA,.,.,D,.,.,.
chr20,37214073,37214073,C,T,R014_F,ADIG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADIG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45229294,45229294,C,T,R014_F,SLC13A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61438961,61438961,C,T,R014_F,OGFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61464465,61464465,G,A,R014_F,COL9A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,41496094,41496094,A,C,R014_F,DSCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18769203,18769203,G,A,R014_F,GGT3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GGT3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20709079,20709079,G,A,R014_F,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=2295;dist=39326,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24640460,24640460,G,A,R014_F,GGT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GGT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25255878,25255878,G,A,R014_F,SGSM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29726560,29726560,C,T,R014_F,AP1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31266381,31266381,C,T,R014_F,OSBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,33562737,33562737,C,T,R014_F,LINC01640,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01640;LARGE1,dist=50457;dist=105775,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39482697,39482697,C,T,R014_F,APOBEC3G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC3G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45818302,45818302,G,A,R014_F,RIBC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIBC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46835075,46835075,C,T,R014_F,CELSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50488496,50488496,C,T,R014_F,TTLL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,13778914,13778914,G,A,R014_F,OFD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OFD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24806683,24806683,G,A,R014_F,POLA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,52655272,52655272,C,T,R014_F,SSX8P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSX8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106112635,106112635,C,T,R014_F,TBC1D8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,147062905,147062905,G,A,R014_F,FMR1NB,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FMR1NB,NM_152578:c.-18G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10394765,10394765,G,A,R014_S,KIF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44386046,44386046,C,T,R014_S,ST3GAL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST3GAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45291914,45291914,G,A,R014_S,PTCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70573411,70573411,A,G,R014_S,LRRC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,85498525,85498525,G,A,R014_S,MCOLN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCOLN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,95305627,95305627,G,A,R014_S,SLC44A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,152784876,152784876,T,C,R014_S,LCE1B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,LCE1B,NM_178349:c.-47T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153431342,153431342,G,A,R014_S,S100A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,S100A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156012717,156012717,G,A,R014_S,UBQLN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBQLN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,171168706,171168706,C,T,R014_S,FMO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220978313,220978313,G,A,R014_S,1-Mar,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,1-Mar,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220978523,220978523,G,A,R014_S,1-Mar,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,1-Mar,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,234452307,234452307,G,A,R014_S,SLC35F3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35F3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237789108,237789108,A,G,R014_S,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1544754,1544754,G,A,R014_S,TPO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10742871,10742871,T,A,R014_S,NOL10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26690129,26690129,G,A,R014_S,OTOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,33952679,33952679,C,T,R014_S,MYADML,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MYADML,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38976410,38976410,G,A,R014_S,SRSF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRSF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95542525,95542525,G,A,R014_S,LOC442028,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC442028,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97820379,97820379,T,A,R014_S,ANKRD36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102849342,102849342,G,T,R014_S,IL1RL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,151343970,151343970,C,G,R014_S,RND3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,RND3,NM_005168:exon2:UTR5,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171264204,171264204,C,T,R014_S,MYO3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,172584939,172584939,C,T,R014_S,DYNC1I2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1I2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217123959,217123959,G,A,R014_S,MARCHF4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MARCHF4,NM_020814:c.*76C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219320258,219320258,C,T,R014_S,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,32774906,32774906,A,G,R014_S,CNOT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37090514,37090514,G,C,R014_S,MLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52538968,52538968,G,A,R014_S,STAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53781271,53781271,C,T,R014_S,CACNA1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,98309740,98309740,C,T,R014_S,CPOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,129818347,129818347,A,G,R014_S,FAM86HP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM86HP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186393099,186393099,A,T,R014_S,HRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1164184,1164184,C,T,R014_S,SPON2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPON2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,87672149,87672149,C,A,R014_S,PTPN13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146563713,146563713,T,C,R014_S,MMAA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMAA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190874320,190874320,T,A,R014_S,FRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904057,190904057,C,T,R014_S,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=19711;dist=41449,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36183898,36183898,A,G,R014_S,SKP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SKP2,NM_001243120:c.*1765A>G;NM_005983:c.*1765A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37052052,37052052,A,G,R014_S,NIPBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68830678,68830678,C,G,R014_S,OCLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OCLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132736367,132736367,C,T,R014_S,FSTL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSTL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150511024,150511024,G,A,R014_S,ANXA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178395750,178395750,G,A,R014_S,ZNF454,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF454;GRM6,dist=2316;dist=9580,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51909747,51909747,G,A,R014_S,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,93973738,93973738,A,G,R014_S,EPHA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123127350,123127350,T,C,R014_S,SMPDL3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMPDL3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,813639,813639,A,G,R014_S,DNAAF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAAF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,3180786,3180786,T,C,R014_S,LOC100129603,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100129603,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5096870,5096870,G,A,R014_S,RBAK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBAK;RBAK-RBAKDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43508498,43508498,G,A,R014_S,HECW1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63020706,63020706,C,T,R014_S,LOC100287834,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100287834;MIR4283-1,dist=161287;dist=60762,NA,NA,NA,NA,NA,NA,NA,NA
chr7,90006773,90006773,G,A,R014_S,GTPBP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105516198,105516198,G,A,R014_S,ATXN7L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN7L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111617405,111617405,C,A,R014_S,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,115892332,115892332,A,G,R014_S,TES,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TES,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122033150,122033150,C,T,R014_S,CADPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128369870,128369870,G,A,R014_S,FAM71F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM71F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128766919,128766919,C,T,R014_S,LOC407835,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC407835,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,135433401,135433401,C,T,R014_S,FAM180A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM180A,NM_205855:c.-73G>A;NM_001369697:c.-73G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139416832,139416832,C,T,R014_S,HIPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142481702,142481702,A,G,R014_S,PRSS3P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PRSS3P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148903721,148903721,G,A,R014_S,ZNF282,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF282,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149419790,149419790,C,T,R014_S,KRBA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRBA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151716706,151716706,C,T,R014_S,GALNTL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNTL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155477557,155477557,C,T,R014_S,RBM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157874112,157874112,C,T,R014_S,PTPRN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30361749,30361749,C,T,R014_S,RBPMS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBPMS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,51664530,51664530,C,T,R014_S,SNTG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNTG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,56862988,56862988,G,T,R014_S,LYN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LYN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62491435,62491435,C,T,R014_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67563811,67563811,A,G,R014_S,VCPIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VCPIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,73951476,73951476,G,A,R014_S,TERF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TERF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124789434,124789434,T,C,R014_S,FAM91A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM91A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,334441,334441,T,C,R014_S,DOCK8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,109694622,109694622,C,T,R014_S,ZNF462,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF462,NA,NA,NA,D,.,D,T,N,T
chr9,112166690,112166690,C,T,R014_S,PTPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113148125,113148125,T,A,R014_S,SVEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132719787,132719787,G,A,R014_S,FNBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137007696,137007696,G,T,R014_S,WDR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6557129,6557129,C,T,R014_S,PRKCQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13743256,13743256,G,A,R014_S,FRMD4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15175026,15175026,C,T,R014_S,NMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,93031470,93031470,G,A,R014_S,PCGF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCGF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95101680,95101680,G,A,R014_S,MYOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,101371182,101371182,T,A,R014_S,SLC25A28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114170290,114170290,A,G,R014_S,ACSL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115529470,115529470,C,T,R014_S,PLEKHS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,116228027,116228027,G,A,R014_S,ABLIM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABLIM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1018797,1018797,G,A,R014_S,MUC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2542729,2542729,G,A,R014_S,KCNQ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7631753,7631753,T,G,R014_S,PPFIBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,10653484,10653484,C,T,R014_S,MRVI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRVI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,12534738,12534738,G,A,R014_S,PARVA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARVA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17425968,17425968,G,A,R014_S,ABCC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,33123982,33123982,T,A,R014_S,CSTF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSTF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,36615733,36615733,C,T,R014_S,RAG2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RAG2,NM_000536:c.-15G>A;NM_001243785:c.-15G>A;NM_001243786:c.-15G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71734209,71734209,C,T,R014_S,NUMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75134707,75134707,C,T,R014_S,KLHL35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,120811033,120811033,C,T,R014_S,GRIK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6646400,6646400,C,T,R014_S,GAPDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAPDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31241839,31241839,T,C,R014_S,DDX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31307356,31307356,T,C,R014_S,OVOS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,OVOS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40821148,40821148,G,A,R014_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40955248,40955248,C,T,R014_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,43887084,43887084,T,C,R014_S,ADAMTS20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,106708356,106708356,A,T,R014_S,TCP11L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCP11L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109613712,109613712,T,C,R014_S,ACACB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111057771,111057771,C,T,R014_S,TCTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112703675,112703675,G,A,R014_S,HECTD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121097819,121097819,G,A,R014_S,CABP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CABP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,51957612,51957612,C,T,R014_S,INTS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99449541,99449541,G,A,R014_S,DOCK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,107516191,107516191,G,A,R014_S,LINC00443,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00443;FAM155A,dist=191663;dist=299668,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22294136,22294136,C,T,R014_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=154904;dist=553672,NA,NA,NA,NA,NA,NA,NA,NA
chr14,45583583,45583583,A,T,R014_S,PRPF39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58818093,58818093,C,T,R014_S,ARID4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,99969354,99969354,A,T,R014_S,CCDC85C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCDC85C,NM_001144995:c.*12229T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106109765,106109765,G,A,R014_S,MIR8071-1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR8071-1;ELK2AP,dist=3196;dist=26149,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106136069,106136069,C,T,R014_S,ELK2AP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ELK2AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106236301,106236301,C,T,R014_S,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=97157;dist=87992,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106363843,106363843,C,G,R014_S,MIR4539,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4539;FAM30A,dist=37259;dist=19995,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106452689,106452689,G,A,R014_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=14331;dist=291580,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106725448,106725448,C,A,R014_S,ADAM6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAM6;LINC00226,dist=287090;dist=18821,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20433937,20433937,C,T,R014_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;CHEK2P2,dist=NONE;dist=54060,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23052567,23052567,C,G,R014_S,NIPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,30849915,30849915,G,T,R014_S,GOLGA8Q,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA8Q,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44028396,44028396,C,T,R014_S,CATSPER2P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CATSPER2P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,79045519,79045519,C,T,R014_S,LOC646938,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC646938,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101826505,101826505,C,T,R014_S,SNRPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1994810,1994810,G,A,R014_S,RPL3L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPL3L,NM_005061:c.*28C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,12220611,12220611,G,T,R014_S,SNX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19067843,19067843,C,T,R014_S,TMC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21823606,21823606,C,T,R014_S,RRN3P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_splicing,RRN3P1,NR_003370:exon5:c.449+1G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74382893,74382893,T,G,R014_S,LOC283922,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC283922,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89355114,89355114,C,T,R014_S,ANKRD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7736337,7736337,C,T,R014_S,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10227261,10227261,C,T,R014_S,MYH13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40839663,40839663,C,T,R014_S,CNTNAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTNAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67256582,67256582,C,T,R014_S,ABCA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72445568,72445568,C,T,R014_S,GPRC5C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GPRC5C,NM_001366261:c.*62C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77193527,77193527,C,T,R014_S,NFATC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFATC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1611686,1611686,G,A,R014_S,TCF3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TCF3,NM_001351779:c.*20C>T;NM_003200:c.*20C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9272112,9272112,G,A,R014_S,ZNF317,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF317,NM_001190791:c.*3G>A;NM_020933:c.*3G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14070533,14070533,G,A,R014_S,DCAF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14522288,14522288,G,A,R014_S,DDX39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35978293,35978293,C,T,R014_S,KRTDAP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTDAP,NM_207392:c.*37G>A;NM_001244847:c.*37G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53302805,53302805,G,A,R014_S,ZNF28,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF28,NM_006969:c.*136C>T;NM_001369761:c.*2021C>T;NM_001369762:c.*136C>T;NM_001369763:c.*136C>T;NM_001369764:c.*136C>T;NM_001369765:c.*136C>T;NM_001369766:c.*2021C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53411493,53411493,C,T,R014_S,ZNF888,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF888,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55209080,55209080,G,A,R014_S,LILRB4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LILRB4;LILRP2,dist=27270;dist=10620,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1106370,1106370,G,A,R014_S,PSMF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35425284,35425284,C,T,R014_S,SOGA1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SOGA1,NM_199181:exon13:c.2768+1G>A;NM_080627:exon13:c.3482+1G>A,NA,NA,.,.,D,.,.,.
chr20,35651008,35651008,G,A,R014_S,RBL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36014578,36014578,G,A,R014_S,SRC,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SRC,NM_005417:exon5:c.350+1G>A;NM_198291:exon5:c.350+1G>A,NA,NA,.,.,D,.,.,.
chr20,37214073,37214073,C,T,R014_S,ADIG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADIG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45229294,45229294,C,T,R014_S,SLC13A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47592753,47592753,T,C,R014_S,ARFGEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61464465,61464465,G,A,R014_S,COL9A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,41496094,41496094,A,C,R014_S,DSCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20709079,20709079,G,A,R014_S,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=2295;dist=39326,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25255878,25255878,G,A,R014_S,SGSM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25715876,25715876,C,T,R014_S,IGLL3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,IGLL3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29726560,29726560,C,T,R014_S,AP1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31266381,31266381,C,T,R014_S,OSBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46835075,46835075,C,T,R014_S,CELSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,22056478,22056478,C,A,R014_S,PHEX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHEX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24806683,24806683,G,A,R014_S,POLA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,50146046,50146046,A,C,R014_S,DGKK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,50146047,50146047,G,T,R014_S,DGKK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100503379,100503379,C,A,R014_S,DRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,147062905,147062905,G,A,R014_S,FMR1NB,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FMR1NB,NM_152578:c.-18G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224804848,224804848,G,A,R015_F,CNIH3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CNIH3,NM_152495:c.-29G>A;NM_001322305:c.-29G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,63215213,63215213,G,A,R015_F,EHBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97361935,97361935,G,A,R015_F,FER1L5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FER1L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,127950577,127950577,C,T,R015_F,CYP27C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP27C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,163250999,163250999,T,G,R015_F,KCNH7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,1269772,1269772,T,C,R015_F,CNTN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,107474627,107474627,A,T,R015_F,BBX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47954568,47954568,A,G,R015_F,LOC101927157,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927157,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79351395,79351395,G,A,R015_F,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190904414,190904414,T,C,R015_F,FRG1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FRG1;FRG2,dist=20068;dist=41092,NA,NA,NA,NA,NA,NA,NA,NA
chr5,52781918,52781918,A,G,R015_F,FST,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FST,NM_006350:c.*400A>G;NM_013409:c.*55A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55146993,55146993,C,A,R015_F,HCRTR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCRTR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,58250622,58250622,C,G,R015_F,GUSBP4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUSBP4;LINC00680-GUSBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21751479,21751479,G,A,R015_F,DNAH11,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DNAH11,NM_001277115:exon42:c.6983+1G>A,NA,NA,.,.,D,.,.,.
chr7,140058275,140058275,C,T,R015_F,SLC37A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC37A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,14095017,14095017,C,T,R015_F,SGCZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGCZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35401816,35401816,C,A,R015_F,UNC13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49071547,49071547,G,A,R015_F,TRIM49B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM49B;TRIM64C,dist=12018;dist=3719,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111412433,111412433,C,A,R015_F,LAYN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAYN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,129825345,129825345,G,A,R015_F,PRDM10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58087896,58087896,C,G,R015_F,OS9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OS9,NM_001261420:c.-49C>G;NM_001017956:c.-49C>G;NM_001261422:c.-49C>G;NM_001261421:c.-49C>G;NM_001261423:c.-49C>G;NM_001017958:c.-49C>G;NM_001017957:c.-49C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104359763,104359763,C,T,R015_F,TDG,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TDG,NM_001363612:c.-14929C>T;NM_003211:c.-53C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr13,19775774,19775774,T,C,R015_F,LOC101928697,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928697;ANKRD26P3,dist=14169;dist=61166,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25356103,25356103,G,A,R015_F,RNF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88959373,88959373,G,A,R015_F,PTPN21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101490264,101490264,A,T,R015_F,MIR299,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR299;MIR411,dist=71,NA,NA,NA,NA,NA,NA,NA,NA
chr14,107131110,107131110,C,G,R015_F,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=179581;dist=127990,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22016474,22016474,C,G,R015_F,CXADRP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CXADRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34112047,34112047,G,A,R015_F,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43897648,43897648,C,T,R015_F,STRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78212340,78212340,C,T,R015_F,LOC645752,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC645752,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1787273,1787273,T,A,R015_F,RPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3594915,3594915,G,A,R015_F,P2RX5-TAX1BP3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,P2RX5-TAX1BP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36760831,36760831,G,A,R015_F,SRCIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRCIN1,NA,NA,NA,.,.,D,.,.,.
chr17,39578317,39578317,G,A,R015_F,KRT37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60216079,60216079,A,G,R015_F,MED13,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MED13;TBC1D3P2,dist=73440;dist=125988,NA,NA,NA,NA,NA,NA,NA,NA
chr18,23738241,23738241,A,T,R015_F,PSMA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,70532326,70532326,C,G,R015_F,NETO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NETO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4909774,4909774,C,A,R015_F,UHRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UHRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53352523,53352523,A,G,R015_F,ZNF468,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF468,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54264323,54264323,G,A,R015_F,MIR516A2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR516A2,dist=64,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31627059,31627059,C,T,R015_F,BPIFB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33575143,33575143,C,A,R015_F,MYH7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42908220,42908220,A,G,R015_F,GDAP1L1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GDAP1L1,NM_001256738:c.*280A>G;NM_001256737:c.*280A>G;NM_001256740:c.*280A>G;NM_001256739:c.*280A>G;NM_024034:c.*280A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60908783,60908783,G,T,R015_F,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11059861,11059861,T,G,R015_F,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,14410672,14410672,G,C,R015_F,ANKRD30BP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ANKRD30BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,36265358,36265358,T,A,R015_F,RUNX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49104999,49104999,C,T,R015_F,CCDC22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26299234,26299234,T,C,R015_S,PAFAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAFAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27700147,27700147,A,T,R015_S,FCN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32100503,32100503,A,G,R015_S,PEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70653144,70653144,T,C,R015_S,LRRC40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224804848,224804848,G,A,R015_S,CNIH3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CNIH3,NM_152495:c.-29G>A;NM_001322305:c.-29G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237038007,237038007,T,A,R015_S,MTR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37872870,37872870,A,G,R015_S,CDC42EP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDC42EP3,NM_001270438:c.*96T>C;NM_001270437:c.*96T>C;NM_001270436:c.*96T>C;NM_006449:c.*96T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr2,127950577,127950577,C,T,R015_S,CYP27C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP27C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,132248507,132248507,G,A,R015_S,MZT2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MZT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,149686952,149686952,T,G,R015_S,KIF5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,163250999,163250999,T,G,R015_S,KCNH7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12776222,12776222,G,A,R015_S,TMEM40,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM40,NM_001284408:c.*51C>T;NM_001284407:c.*51C>T;NM_018306:c.*51C>T;NM_001284406:c.*51C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,24169333,24169333,A,G,R015_S,THRB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THRB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,89498353,89498353,A,G,R015_S,EPHA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47954568,47954568,A,G,R015_S,LOC101927157,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927157,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74902828,74902828,C,G,R015_S,CXCL3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CXCL3,NM_002090:c.*151G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79351395,79351395,G,A,R015_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83765704,83765704,A,G,R015_S,SEC31A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC31A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89570915,89570915,A,T,R015_S,HERC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1258706,1258706,G,A,R015_S,TERT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TERT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148421230,148421230,A,G,R015_S,SH3TC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3TC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179134332,179134332,T,C,R015_S,CANX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CANX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180275701,180275701,G,T,R015_S,ZFP62,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZFP62,NM_001172638:c.*91C>A;NM_152283:c.*91C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,397027,397027,C,T,R015_S,IRF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55146993,55146993,C,A,R015_S,HCRTR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCRTR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,110620363,110620363,A,G,R015_S,METTL24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,822177,822177,T,C,R015_S,DNAAF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAAF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,40356554,40356554,G,T,R015_S,SUGCT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUGCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45753605,45753605,G,A,R015_S,ADCY1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADCY1,NM_021116:c.*11G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76121767,76121767,C,T,R015_S,DTX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141783330,141783330,A,T,R015_S,MGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150705916,150705916,G,A,R015_S,NOS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,14095017,14095017,C,T,R015_S,SGCZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGCZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,66499739,66499739,G,A,R015_S,PTGER4P2-CDK2AP2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PTGER4P2-CDK2AP2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,88633482,88633482,A,G,R015_S,NAA35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,136508728,136508728,C,T,R015_S,DBH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138458576,138458576,G,T,R015_S,PAEP,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PAEP,NM_002571:c.*178G>T;NM_001018048:c.*178G>T;NM_001018049:c.*207G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139412565,139412565,C,T,R015_S,NOTCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124359634,124359634,A,C,R015_S,DMBT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMBT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,15994328,15994328,T,C,R015_S,SOX6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SOX6,NM_001145819:c.*27A>G;NM_001145811:c.*27A>G;NM_017508:c.*27A>G;NM_001367872:c.*27A>G;NM_033326:c.*27A>G;NM_001367873:c.*27A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67198835,67198835,C,A,R015_S,RPS6KB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68562176,68562176,G,A,R015_S,CPT1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPT1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71727358,71727358,G,T,R015_S,LOC100128494,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100128494,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73679290,73679290,C,T,R015_S,DNAJB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124619782,124619782,A,C,R015_S,VSIG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21623298,21623298,A,T,R015_S,PYROXD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PYROXD1,NM_001350913:c.*1610A>T;NM_024854:c.*1610A>T;NM_001350912:c.*1610A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21712690,21712690,T,A,R015_S,GYS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GYS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31307356,31307356,T,C,R015_S,OVOS2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,OVOS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52912116,52912116,C,T,R015_S,KRT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56994716,56994716,A,G,R015_S,BAZ2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAZ2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58087896,58087896,C,G,R015_S,OS9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OS9,NM_001261420:c.-49C>G;NM_001017956:c.-49C>G;NM_001261422:c.-49C>G;NM_001261421:c.-49C>G;NM_001261423:c.-49C>G;NM_001017958:c.-49C>G;NM_001017957:c.-49C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104133152,104133152,A,G,R015_S,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104359763,104359763,C,T,R015_S,TDG,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TDG,NM_001363612:c.-14929C>T;NM_003211:c.-53C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132911842,132911842,C,T,R015_S,LOC101928416,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928416;FBRSL1,dist=3681;dist=154895,NA,NA,NA,NA,NA,NA,NA,NA
chr13,19775774,19775774,T,C,R015_S,LOC101928697,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928697;ANKRD26P3,dist=14169;dist=61166,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25356103,25356103,G,A,R015_S,RNF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53235870,53235870,C,G,R015_S,SUGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77735012,77735012,C,G,R015_S,NGB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NGB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88959373,88959373,G,A,R015_S,PTPN21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101490264,101490264,A,T,R015_S,MIR299,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR299;MIR411,dist=71,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34112047,34112047,G,A,R015_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43897648,43897648,C,T,R015_S,STRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91358582,91358582,T,C,R015_S,BLM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BLM,NM_000057:c.*73T>C;NM_001287246:c.*73T>C;NM_001287247:c.*73T>C;NM_001287248:c.*73T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4897374,4897374,G,A,R015_S,GLYR1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,GLYR1;UBN1,dist=108,NA,NA,NA,NA,NA,NA,NA,NA
chr16,33941726,33941726,G,T,R015_S,ENPP7P13,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ENPP7P13;MIR9901,dist=354984;dist=24319,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1787273,1787273,T,A,R015_S,RPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34304597,34304597,G,T,R015_S,CCL16,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCL16,NM_004590:c.*5C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36760831,36760831,G,A,R015_S,SRCIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRCIN1,NA,NA,NA,.,.,D,.,.,.
chr17,39578317,39578317,G,A,R015_S,KRT37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47044761,47044761,G,A,R015_S,GIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61907602,61907602,C,A,R015_S,PSMC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65146189,65146189,A,C,R015_S,HELZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HELZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80866423,80866423,T,C,R015_S,TBCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,70532326,70532326,C,G,R015_S,NETO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NETO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1980130,1980130,A,G,R015_S,CSNK1G2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSNK1G2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2986687,2986687,G,T,R015_S,TLE6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3670531,3670531,A,G,R015_S,SIGLEC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIGLEC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42908220,42908220,A,G,R015_S,GDAP1L1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GDAP1L1,NM_001256738:c.*280A>G;NM_001256737:c.*280A>G;NM_001256740:c.*280A>G;NM_001256739:c.*280A>G;NM_024034:c.*280A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43932757,43932757,A,G,R015_S,MATN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MATN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60908783,60908783,G,T,R015_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49104999,49104999,C,T,R015_S,CCDC22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53461091,53461091,A,G,R015_S,HSD17B10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16362543,16362543,C,G,R016_F,CLCNKA,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CLCNKA;CLCNKB,dist=1998;dist=7688,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17914163,17914163,C,T,R016_F,ARHGEF10L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF10L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22304846,22304846,C,A,R016_F,CELA3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELA3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22922722,22922722,T,C,R016_F,EPHA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,29320169,29320169,C,T,R016_F,EPB41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43830555,43830555,A,G,R016_F,ELOVL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELOVL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115399788,115399788,G,A,R016_F,SYCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237038007,237038007,T,A,R016_F,MTR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233344995,233344995,C,T,R016_F,ECEL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126374896,126374896,G,A,R016_F,TXNRD3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TXNRD3,dist=929,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195347026,195347026,C,T,R016_F,APOD,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,APOD;LOC105374297,dist=36215;dist=26480,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3589875,3589875,A,T,R016_F,LINC00955,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00955,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5837615,5837615,C,G,R016_F,CRMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,6473864,6473864,G,A,R016_F,PPP2R2C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PPP2R2C,NM_001363388:c.-26C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74451208,74451208,G,A,R016_F,RASSF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASSF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76892467,76892467,C,T,R016_F,SDAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79295424,79295424,A,G,R016_F,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,174458031,174458031,G,C,R016_F,HAND2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HAND2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127671029,127671029,G,A,R016_F,FBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,133861305,133861305,A,C,R016_F,JADE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JADE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,151179432,151179432,T,A,R016_F,G3BP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,G3BP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,151179445,151179445,T,C,R016_F,G3BP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,G3BP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,1060570,1060570,A,G,R016_F,LINC01622,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01622,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43596428,43596428,T,A,R016_F,GTPBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,89675456,89675456,C,T,R016_F,RNGTT,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RNGTT;PNRC1,dist=2119;dist=115014,NA,NA,NA,NA,NA,NA,NA,NA
chr6,133055667,133055667,G,A,R016_F,VNN3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,VNN3,NM_001291703:c.-7752C>T;NM_001291702:c.-7752C>T;NM_001368149:c.-7752C>T;NM_001368150:c.-7752C>T;NM_001368151:c.-7752C>T;NM_001368152:c.-7752C>T;NM_001368155:c.-9596C>T;NM_001368156:c.-9596C>T;NM_001368154:c.-9596C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72396199,72396199,A,C,R016_F,POM121,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POM121,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73457371,73457371,T,C,R016_F,ELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87081127,87081127,C,A,R016_F,ABCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82665541,82665541,C,T,R016_F,CHMP4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHMP4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121019248,121019248,A,C,R016_F,DEPTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEPTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,21994133,21994133,C,G,R016_F,CDKN2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKN2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4673717,4673717,G,A,R016_F,OR51E1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,OR51E1,NM_152430:exon2:UTR5,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6425803,6425803,T,C,R016_F,APBB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65266481,65266481,C,T,R016_F,MALAT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MALAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134182877,134182877,C,T,R016_F,GLB1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80841399,80841399,G,A,R016_F,PTPRQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80853600,80853600,C,T,R016_F,PTPRQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,85409580,85409580,A,G,R016_F,TSPAN19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,118405862,118405862,T,C,R016_F,KSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,130929694,130929694,C,T,R016_F,RIMBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,60864540,60864540,C,T,R016_F,LINC02322,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02322;C14orf39,dist=73915;dist=38134,NA,NA,NA,NA,NA,NA,NA,NA
chr15,54005094,54005094,A,C,R016_F,WDR72,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR72,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59470746,59470746,C,T,R016_F,MYO1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64792598,64792598,G,A,R016_F,ZNF609,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF609,NA,NA,NA,D,.,N,.,N,T
chr16,86370941,86370941,C,T,R016_F,LINC00917,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00917,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7340877,7340877,G,C,R016_F,TMEM102,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM102,NM_178518:c.*52G>C;NM_001320444:c.*52G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27425493,27425493,C,T,R016_F,MYO18A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO18A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29533256,29533256,A,G,R016_F,NF1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NF1,NM_000267:exon12:c.1261-2A>G;NM_001042492:exon12:c.1261-2A>G;NM_001128147:exon12:c.1261-2A>G,NA,NA,.,.,D,.,.,.
chr19,614056,614056,C,T,R016_F,HCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21838312,21838312,A,C,R016_F,LOC400682,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC400682,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54723995,54723995,G,C,R016_F,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54724407,54724407,C,T,R016_F,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55458944,55458944,G,A,R016_F,NLRP7,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NLRP7,dist=71,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2529943,2529943,C,A,R016_S,MMEL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40770376,40770376,T,C,R016_S,COL9A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156509407,156509407,C,T,R016_S,IQGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159033514,159033514,C,T,R016_S,AIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179660169,179660169,A,T,R016_S,TDRD5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TDRD5,NM_001349923:c.*91A>T;NM_001199091:c.*91A>T;NM_001199089:c.*91A>T;NM_173533:c.*91A>T;NM_001199085:c.*91A>T;NM_001199092:c.*91A>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225156757,225156757,T,C,R016_S,DNAH14,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DNAH14,NM_001349912:c.*177T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228589945,228589945,C,G,R016_S,TRIM11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1842912,1842912,G,A,R016_S,MYT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,31564107,31564107,A,T,R016_S,XDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61472468,61472468,T,C,R016_S,USP34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,89246992,89246992,G,C,R016_S,MIR4436A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4436A;NONE,dist=135024;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136029231,136029231,G,T,R016_S,ZRANB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZRANB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,166430983,166430983,A,G,R016_S,CSRNP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSRNP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,176001133,176001133,C,T,R016_S,ATF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231236373,231236373,A,T,R016_S,SP140L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140L,NA,NA,NA,D,.,D,T,N,T
chr3,14166323,14166323,G,A,R016_S,CHCHD4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CHCHD4,NM_144636:c.-2846C>T;NM_001098502:c.-147C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50140466,50140466,G,A,R016_S,RBM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51101847,51101847,T,C,R016_S,DOCK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194132806,194132806,T,C,R016_S,ATP13A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197349029,197349029,G,C,R016_S,LOC220729,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC220729,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5837615,5837615,C,G,R016_S,CRMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,6473864,6473864,G,A,R016_S,PPP2R2C,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PPP2R2C,NM_001363388:c.-26C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42146089,42146089,A,G,R016_S,BEND4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BEND4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79295424,79295424,A,G,R016_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,174458031,174458031,G,C,R016_S,HAND2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HAND2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35003867,35003867,C,G,R016_S,AGXT2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,AGXT2,NM_031900:exon13:c.1437+1G>C;NM_001306173:exon11:c.1212+1G>C,NA,NA,.,.,D,.,.,.
chr5,78587225,78587225,C,T,R016_S,JMY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JMY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,38750776,38750776,A,T,R016_S,DNAH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,46672217,46672217,A,T,R016_S,PLA2G7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLA2G7,NM_005084:c.*80T>A;NM_001168357:c.*80T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56469217,56469217,A,C,R016_S,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56469945,56469945,C,A,R016_S,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,.,N,.,.,.,.
chr6,66053878,66053878,A,C,R016_S,EYS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,86215598,86215598,A,G,R016_S,SNX14,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNX14,NM_153816:c.*87T>C;NM_001350533:c.*87T>C;NM_001350539:c.*87T>C;NM_001350537:c.*87T>C;NM_001350547:c.*87T>C;NM_001350548:c.*87T>C;NM_001350550:c.*87T>C;NM_001350549:c.*87T>C;NM_001350551:c.*87T>C;NM_001350553:c.*87T>C;NM_001350552:c.*87T>C;NM_001350545:c.*87T>C;NM_001350546:c.*87T>C;NM_001350542:c.*87T>C;NM_001350536:c.*87T>C;NM_001350535:c.*87T>C;NM_001350532:c.*87T>C;NM_001297614:c.*87T>C;NM_001304479:c.*87T>C;NM_001350538:c.*87T>C;NM_020468:c.*87T>C;NM_001350534:c.*87T>C;NM_001350540:c.*87T>C;NM_001350544:c.*87T>C;NM_001350543:c.*87T>C;NM_001350541:c.*87T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr6,89793426,89793426,T,C,R016_S,PNRC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,107050918,107050918,A,G,R016_S,RTN4IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTN4IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,133055667,133055667,G,A,R016_S,VNN3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,VNN3,NM_001291703:c.-7752C>T;NM_001291702:c.-7752C>T;NM_001368149:c.-7752C>T;NM_001368150:c.-7752C>T;NM_001368151:c.-7752C>T;NM_001368152:c.-7752C>T;NM_001368155:c.-9596C>T;NM_001368156:c.-9596C>T;NM_001368154:c.-9596C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72081933,72081933,G,A,R016_S,TYW1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73480399,73480399,G,C,R016_S,ELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140434604,140434604,A,G,R016_S,BRAF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133142332,133142332,T,C,R016_S,KCNQ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNQ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,15874675,15874675,T,C,R016_S,CCDC171,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC171,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,74687509,74687509,G,C,R016_S,C9orf57,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,C9orf57;GDA,dist=11988;dist=42002,NA,NA,NA,NA,NA,NA,NA,NA
chr10,19392787,19392787,A,T,R016_S,MALRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MALRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94381123,94381123,C,T,R016_S,KIF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1027559,1027559,C,T,R016_S,MUC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10084799,10084799,T,C,R016_S,CLEC2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113822633,113822633,T,C,R016_S,PLBD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLBD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,118405862,118405862,T,C,R016_S,KSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129298759,129298759,C,T,R016_S,SLC15A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC15A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129298775,129298775,C,G,R016_S,SLC15A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC15A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111562907,111562907,A,G,R016_S,ANKRD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,55677738,55677738,A,G,R016_S,DNAAF4-CCPG1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNAAF4-CCPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85213936,85213936,C,A,R016_S,SEC11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1557775,1557775,A,G,R016_S,TELO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TELO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2499585,2499585,C,T,R016_S,CCNF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,7726718,7726718,G,A,R016_S,RBFOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66884572,66884572,C,T,R016_S,CA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70417067,70417067,A,C,R016_S,ST3GAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST3GAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7663075,7663075,G,T,R016_S,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10366848,10366848,A,G,R016_S,MYHAS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12620789,12620789,A,G,R016_S,MYOCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12917824,12917824,A,G,R016_S,ELAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,9102921,9102921,G,A,R016_S,NDUFV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,57026510,57026510,G,C,R016_S,LMAN1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LMAN1,dist=13,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10970758,10970758,A,G,R016_S,C19orf38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12813536,12813536,T,C,R016_S,TNPO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNPO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14736249,14736249,C,T,R016_S,ADGRE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,30311817,30311817,G,A,R016_S,CCNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41283456,41283456,T,C,R016_S,MIA-RAB4B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIA-RAB4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44302556,44302556,C,T,R016_S,LYPD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LYPD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54723995,54723995,G,C,R016_S,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55209052,55209052,A,T,R016_S,LILRB4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LILRB4;LILRP2,dist=27242;dist=10648,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55209053,55209053,G,A,R016_S,LILRB4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LILRB4;LILRP2,dist=27243;dist=10647,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56510965,56510965,C,T,R016_S,NLRP5,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NLRP5,dist=127,NA,NA,NA,NA,NA,NA,NA,NA
chr20,23528592,23528592,C,T,R016_S,CST13P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CST13P;CST9L,dist=5937;dist=16778,NA,NA,NA,NA,NA,NA,NA,NA
chr20,23528593,23528593,C,T,R016_S,CST13P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CST13P;CST9L,dist=5938;dist=16777,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37258091,37258091,T,C,R016_S,ARHGAP40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50701068,50701068,C,T,R016_S,ZFP64,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZFP64,NM_199427:c.*28G>A;NM_001319146:c.*28G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr21,14415103,14415103,C,G,R016_S,ANKRD30BP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ANKRD30BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,14415122,14415122,C,T,R016_S,ANKRD30BP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ANKRD30BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19210359,19210359,T,C,R016_S,CLTCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26000568,26000568,A,G,R016_S,GRK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100364610,100364610,T,C,R016_S,CENPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153762190,153762190,G,A,R016_S,G6PD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,G6PD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89844191,89844191,G,A,R017_F,GBP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155252157,155252157,T,G,R017_F,HCN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,58390748,58390748,C,G,R017_F,FANCL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,169853129,169853129,C,T,R017_F,ABCB11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49932554,49932554,C,T,R017_F,MST1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MST1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139077126,139077126,G,A,R017_F,COPB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,77469508,77469508,G,A,R017_F,PHTF2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PHTF2,NM_001366089:c.-65G>A;NM_020432:c.-65G>A;NM_001127357:c.-65G>A;NM_001127359:c.-65G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr10,73494436,73494436,G,A,R017_F,C10orf105,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C10orf105;CDH23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,88651852,88651852,G,T,R017_F,BMPR1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMPR1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,20181459,20181459,A,C,R017_F,DBX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47810202,47810202,C,A,R017_F,NUP160,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20476906,20476906,T,C,R017_F,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;CHEK2P2,dist=NONE;dist=11091,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10626631,10626631,T,C,R017_F,EMP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EMP2,NM_001424:c.*131A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8809058,8809058,G,A,R017_F,ACTL9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ACTL9,NM_178525:c.-7C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11170588,11170588,C,A,R017_F,SMARCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45293163,45293163,G,T,R017_F,CBLC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22786669,22786669,G,T,R017_F,BMS1P20,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,BMS1P20;ZNF280B,dist=109345;dist=52102,NA,NA,NA,NA,NA,NA,NA,NA
chrX,2931030,2931030,G,T,R017_F,ARSH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARSH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69503594,69503594,C,T,R017_F,RAB41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110653195,110653195,C,T,R017_F,DCX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7826645,7826645,G,A,R017_S,CAMTA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CAMTA1,NM_001349608:c.*94G>A;NM_015215:c.*94G>A;NM_001349610:c.*94G>A;NM_001349612:c.*94G>A;NM_001349609:c.*63G>A;NM_001349614:c.*63G>A;NM_001349620:c.*94G>A;NM_001349621:c.*63G>A;NM_001349623:c.*63G>A;NM_001349625:c.*94G>A;NM_001349617:c.*94G>A;NM_001349613:c.*63G>A;NM_001349619:c.*94G>A;NM_001349622:c.*63G>A;NM_001349616:c.*94G>A;NM_001349618:c.*94G>A;NM_001349615:c.*63G>A;NM_001349626:c.*94G>A;NM_001349624:c.*63G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,8601207,8601207,T,C,R017_S,RERE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RERE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9017443,9017443,C,A,R017_S,CA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10207282,10207282,T,C,R017_S,UBE4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10327375,10327375,C,T,R017_S,KIF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15976156,15976156,A,G,R017_S,DDI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16730094,16730094,G,C,R017_S,SPATA21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17596955,17596955,G,C,R017_S,PADI3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PADI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19612939,19612939,A,G,R017_S,AKR7A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR7A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22332332,22332332,T,C,R017_S,CELA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22332333,22332333,G,A,R017_S,CELA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26774229,26774229,T,C,R017_S,DHDDS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHDDS,NA,NA,NA,D,.,N,.,D,T
chr1,28802518,28802518,C,G,R017_S,PHACTR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHACTR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,29642705,29642705,C,G,R017_S,PTPRU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31740653,31740653,G,A,R017_S,SNRNP40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRNP40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31740660,31740660,C,T,R017_S,SNRNP40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRNP40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33149502,33149502,A,G,R017_S,RBBP4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RBBP4,NM_005610:c.*4196A>G;NM_001135255:c.*4196A>G;NM_001135256:c.*4196A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33478611,33478611,T,C,R017_S,AK2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AK2,NM_001625:c.*171A>G;NM_001319140:c.*171A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35654536,35654536,C,T,R017_S,SFPQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFPQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36204666,36204666,T,C,R017_S,CLSPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLSPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36204680,36204680,G,A,R017_S,CLSPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLSPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38301496,38301496,C,G,R017_S,MTF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38351580,38351580,G,A,R017_S,INPP5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41006488,41006488,A,G,R017_S,ZNF684,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF684,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45472830,45472830,T,G,R017_S,HECTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46082112,46082112,T,G,R017_S,NASP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NASP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46082120,46082120,T,C,R017_S,NASP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NASP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46082137,46082137,T,C,R017_S,NASP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NASP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51867997,51867997,C,T,R017_S,EPS15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62274269,62274269,T,C,R017_S,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62939530,62939530,G,A,R017_S,DOCK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,64680667,64680667,A,G,R017_S,UBE2U,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2U,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78046590,78046590,C,T,R017_S,ZZZ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZZ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78184427,78184427,A,C,R017_S,USP33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,79106870,79106870,T,G,R017_S,IFI44L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFI44L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89352872,89352872,A,G,R017_S,GTF2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,90058676,90058676,A,G,R017_S,LRRC8B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRRC8B,NM_001134476:c.*74A>G;NM_001369817:c.*74A>G;NM_001369819:c.*74A>G;NM_015350:c.*74A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92443980,92443980,A,G,R017_S,BRDT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRDT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92456634,92456634,A,G,R017_S,BRDT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRDT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94502188,94502188,T,G,R017_S,ABCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94948876,94948876,T,C,R017_S,ABCD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115160860,115160860,T,C,R017_S,DENND2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,116202162,116202162,A,G,R017_S,VANGL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VANGL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150465028,150465028,T,C,R017_S,TARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151010816,151010816,T,C,R017_S,BNIPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153642187,153642187,A,G,R017_S,ILF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ILF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153642203,153642203,G,C,R017_S,ILF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ILF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155324206,155324206,T,C,R017_S,ASH1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASH1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155686712,155686712,T,C,R017_S,DAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155736605,155736605,A,G,R017_S,GON4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GON4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155885587,155885587,T,C,R017_S,KHDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KHDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155988226,155988226,C,G,R017_S,SSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156849684,156849684,A,G,R017_S,NTRK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTRK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,165623663,165623663,T,C,R017_S,MGST3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGST3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,165623666,165623666,A,G,R017_S,MGST3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGST3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167889138,167889138,C,T,R017_S,MPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173961837,173961837,C,G,R017_S,RC3H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RC3H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179100348,179100348,A,G,R017_S,ABL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182553158,182553158,C,A,R017_S,RNASEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNASEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,184688256,184688256,T,G,R017_S,EDEM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDEM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200522344,200522344,G,A,R017_S,KIF14,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KIF14,NM_001305792:c.*172C>T;NM_014875:c.*172C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202719689,202719689,T,C,R017_S,KDM5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205592723,205592723,G,A,R017_S,ELK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207071250,207071250,A,C,R017_S,IL24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207235133,207235133,G,A,R017_S,PFKFB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKFB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,209602614,209602614,C,T,R017_S,MIR205HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR205HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220313680,220313680,A,G,R017_S,IARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220327165,220327165,C,T,R017_S,RAB3GAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3GAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227330585,227330585,T,C,R017_S,CDC42BPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229580570,229580570,A,G,R017_S,NUP133,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP133,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,231672846,231672846,A,G,R017_S,TSNAX-DISC1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TSNAX-DISC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,17961150,17961150,A,G,R017_S,GEN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27852894,27852894,G,C,R017_S,GPN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27852903,27852903,T,C,R017_S,GPN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27891583,27891583,T,C,R017_S,SLC4A1AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A1AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27891585,27891585,A,G,R017_S,SLC4A1AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A1AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32631444,32631444,A,G,R017_S,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32702704,32702704,T,C,R017_S,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37078377,37078377,A,C,R017_S,STRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37246797,37246797,C,A,R017_S,HEATR5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37444288,37444288,T,C,R017_S,CEBPZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEBPZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38202520,38202520,G,A,R017_S,RMDN2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RMDN2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39009129,39009129,A,G,R017_S,GEMIN6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GEMIN6,NM_024775:c.*95A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39536472,39536472,A,C,R017_S,MAP4K3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48040820,48040820,T,C,R017_S,FBXO11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,54163152,54163152,A,T,R017_S,PSME4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSME4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55842737,55842737,T,C,R017_S,PPP4R3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP4R3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55842747,55842747,T,C,R017_S,PPP4R3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP4R3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,60995514,60995514,A,G,R017_S,PAPOLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPOLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61020902,61020902,T,C,R017_S,PAPOLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPOLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61020903,61020903,A,G,R017_S,PAPOLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPOLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61147617,61147617,G,T,R017_S,REL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,68358329,68358329,A,T,R017_S,WDR92,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WDR92,NM_138458:c.*41T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73961477,73961477,C,T,R017_S,TPRKB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPRKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74087113,74087113,C,T,R017_S,STAMBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAMBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85273495,85273495,T,G,R017_S,KCMF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCMF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86308254,86308254,T,C,R017_S,POLR1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86434516,86434516,A,G,R017_S,MRPL35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95539855,95539855,T,G,R017_S,TEKT4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TEKT4,NM_001286559:exon3:c.167+2T>G;NM_144705:exon3:c.713+2T>G,NA,NA,.,.,D,.,.,.
chr2,95539874,95539874,T,C,R017_S,LOC442028,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC442028,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95539875,95539875,G,A,R017_S,LOC442028,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC442028,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102956822,102956822,T,C,R017_S,IL1RL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111556089,111556089,C,T,R017_S,ACOXL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111851207,111851207,T,C,R017_S,ACOXL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ACOXL,NM_001371254:c.*132T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr2,119734919,119734919,T,A,R017_S,MARCO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136615635,136615635,T,C,R017_S,MCM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136616752,136616752,C,T,R017_S,MCM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136664835,136664835,G,A,R017_S,DARS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DARS,NM_001293312:c.*51C>T;NM_001349:c.*51C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152318666,152318666,C,T,R017_S,RIF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152524264,152524264,T,C,R017_S,NEB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165556076,165556076,G,C,R017_S,COBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165809158,165809158,A,G,R017_S,SLC38A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,168098199,168098199,A,C,R017_S,XIRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XIRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179658339,179658339,C,G,R017_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,189860975,189860975,A,T,R017_S,COL3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191789381,191789381,G,A,R017_S,GLS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191940846,191940846,T,C,R017_S,STAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201719246,201719246,A,G,R017_S,CLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201721789,201721789,A,G,R017_S,CLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201806104,201806104,A,G,R017_S,ORC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201806105,201806105,T,C,R017_S,ORC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203624135,203624135,T,C,R017_S,FAM117B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM117B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,204161389,204161389,G,A,R017_S,CYP20A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP20A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,204161408,204161408,T,A,R017_S,CYP20A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP20A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,204322173,204322173,T,C,R017_S,RAPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209188754,209188754,A,G,R017_S,PIKFYVE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIKFYVE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209216285,209216285,G,A,R017_S,PIKFYVE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIKFYVE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219090752,219090752,A,T,R017_S,ARPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219320519,219320519,T,C,R017_S,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219324692,219324692,A,G,R017_S,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219324705,219324705,A,G,R017_S,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219362396,219362396,A,G,R017_S,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220288419,220288419,T,C,R017_S,DES,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DES,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220400064,220400064,T,G,R017_S,ASIC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASIC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231110780,231110780,T,C,R017_S,SP140,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,4704966,4704966,G,A,R017_S,ITPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9860334,9860334,C,G,R017_S,ARPC4-TTLL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARPC4-TTLL3;TTLL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10016272,10016272,C,T,R017_S,EMC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10103769,10103769,G,A,R017_S,FANCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10103788,10103788,A,G,R017_S,FANCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10188141,10188141,G,A,R017_S,VHL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VHL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38420677,38420677,T,C,R017_S,XYLB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XYLB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,40464293,40464293,G,A,R017_S,ENTPD3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ENTPD3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44835641,44835641,A,G,R017_S,KIF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45042911,45042911,A,G,R017_S,EXOSC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47717180,47717180,A,G,R017_S,SMARCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47756094,47756094,T,C,R017_S,SMARCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47779433,47779433,A,G,R017_S,SMARCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48215641,48215641,C,A,R017_S,CDC25A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC25A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50145397,50145397,C,G,R017_S,RBM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51517663,51517663,A,G,R017_S,DCAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52724527,52724527,T,C,R017_S,GNL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52780016,52780016,T,G,R017_S,NEK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53891578,53891578,T,C,R017_S,IL17RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL17RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,56601167,56601167,A,C,R017_S,CCDC66,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC66,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57143448,57143448,G,C,R017_S,IL17RD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL17RD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57894973,57894973,C,T,R017_S,SLMAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLMAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,62318827,62318827,A,G,R017_S,C3orf14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3orf14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,69056812,69056812,T,A,R017_S,EOGT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EOGT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111304104,111304104,T,C,R017_S,CD96,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119204048,119204048,T,A,R017_S,POGLUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POGLUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121366117,121366117,C,T,R017_S,HCLS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCLS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,129009383,129009383,G,T,R017_S,HMCES,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCES,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,129009405,129009405,C,G,R017_S,HMCES,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCES,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,133331157,133331157,A,T,R017_S,TOPBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOPBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,145838776,145838776,A,G,R017_S,PLOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150391647,150391647,T,C,R017_S,ERICH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERICH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160138742,160138742,T,G,R017_S,TRIM59-IFT80,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRIM59-IFT80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164786431,164786431,T,G,R017_S,SI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184935842,184935842,T,C,R017_S,EHHADH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHHADH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185241790,185241790,A,G,R017_S,LIPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,190993205,190993205,T,C,R017_S,UTS2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTS2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194313610,194313610,A,G,R017_S,TMEM44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194346483,194346483,C,A,R017_S,TMEM44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197562523,197562523,G,T,R017_S,LRCH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,264646,264646,G,T,R017_S,ZNF732,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF732,NM_001137608:c.*242C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1696380,1696380,G,A,R017_S,SLBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1741581,1741581,T,C,R017_S,TACC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TACC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3036957,3036957,A,G,R017_S,GRK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5858126,5858126,T,C,R017_S,CRMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,15994119,15994119,C,T,R017_S,PROM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555380,20555380,A,G,R017_S,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555394,20555394,A,G,R017_S,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39501658,39501658,C,A,R017_S,UGDH,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UGDH,NM_001184700:c.*105G>T;NM_003359:c.*105G>T;NM_001184701:c.*105G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39779538,39779538,G,A,R017_S,UBE2K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48091687,48091687,C,G,R017_S,TXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,52926865,52926865,A,G,R017_S,SPATA18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57244254,57244254,A,G,R017_S,AASDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AASDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71689966,71689966,T,C,R017_S,GRSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73933707,73933707,A,G,R017_S,COX18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73933714,73933714,C,T,R017_S,COX18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COX18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77021579,77021579,A,T,R017_S,ART3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ART3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78082540,78082540,A,C,R017_S,CCNG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78979275,78979275,C,T,R017_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,85699893,85699893,A,C,R017_S,WDFY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDFY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100784134,100784134,C,G,R017_S,DAPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113362001,113362001,A,G,R017_S,ALPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,123254711,123254711,G,A,R017_S,KIAA1109,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1109,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,126337847,126337847,C,T,R017_S,FAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,140305890,140305890,T,C,R017_S,NAA15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,140587271,140587271,C,T,R017_S,MGST2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGST2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,148564160,148564160,T,C,R017_S,PRMT9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,156277142,156277142,A,G,R017_S,LOC102724776,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102724776,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,13820658,13820658,A,G,R017_S,DNAH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,24509639,24509639,A,T,R017_S,CDH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,33560987,33560987,A,C,R017_S,ADAMTS12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36680771,36680771,A,G,R017_S,SLC1A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37358344,37358344,T,G,R017_S,NUP155,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38942832,38942832,G,A,R017_S,RICTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RICTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38942833,38942833,T,C,R017_S,RICTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RICTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,45267077,45267077,A,C,R017_S,HCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54594581,54594581,G,A,R017_S,DHX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,56510161,56510161,T,C,R017_S,GPBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74011584,74011584,A,G,R017_S,HEXB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEXB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74034075,74034075,T,A,R017_S,GFM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76621258,76621258,A,T,R017_S,PDE8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79441828,79441828,T,A,R017_S,SERINC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,81601104,81601104,T,A,R017_S,ATP6AP1L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATP6AP1L,NM_001349373:c.-117T>A;NM_001349372:c.-117T>A;NM_001017971:c.-117T>A,NA,NA,NA,NA,NA,NA,NA,NA
chr5,101593533,101593533,G,A,R017_S,SLCO4C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO4C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112151371,112151371,A,G,R017_S,APC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112151387,112151387,T,C,R017_S,APC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112151399,112151399,A,G,R017_S,APC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,128351824,128351824,A,G,R017_S,SLC27A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC27A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,128351837,128351837,A,G,R017_S,SLC27A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC27A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132224652,132224652,A,T,R017_S,AFF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132224677,132224677,C,T,R017_S,AFF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,133536849,133536849,C,T,R017_S,PPP2CA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2CA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,134118525,134118525,G,A,R017_S,DDX46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137347387,137347387,A,G,R017_S,FAM13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137454451,137454451,A,G,R017_S,NME5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141353069,141353069,T,C,R017_S,RNF14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145539886,145539886,T,A,R017_S,LARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145608455,145608455,T,C,R017_S,RBM27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145650712,145650712,T,C,R017_S,RBM27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147820161,147820161,A,G,R017_S,FBXO38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148729348,148729348,T,C,R017_S,GRPEL2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GRPEL2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148729350,148729350,T,C,R017_S,GRPEL2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GRPEL2-AS1,NA,NA,NA,D,.,N,.,N,T
chr5,159831349,159831349,A,G,R017_S,SLU7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLU7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180041200,180041200,T,G,R017_S,FLT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180041242,180041242,T,C,R017_S,FLT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,6197650,6197650,T,C,R017_S,F13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,F13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13639687,13639687,A,G,R017_S,RANBP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13790955,13790955,A,G,R017_S,MCUR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MCUR1,NM_001031713:c.*86T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13790977,13790977,A,G,R017_S,MCUR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MCUR1,NM_001031713:c.*64T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17617017,17617017,C,G,R017_S,NUP153,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP153,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17646470,17646470,A,G,R017_S,NUP153,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP153,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17779761,17779761,T,C,R017_S,KIF13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,18131108,18131108,A,G,R017_S,TPMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,18131121,18131121,A,G,R017_S,TPMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24871015,24871015,G,T,R017_S,RIPOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIPOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26465681,26465681,G,T,R017_S,BTN2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTN2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36882510,36882510,G,A,R017_S,C6orf89,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C6orf89,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42618184,42618184,A,G,R017_S,UBR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42823813,42823813,T,C,R017_S,BICRAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BICRAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42993089,42993089,T,G,R017_S,RRP36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRP36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,53707113,53707113,G,A,R017_S,LRRC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,71761784,71761784,C,T,R017_S,B3GAT2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,B3GAT2;OGFRL1,dist=95021;dist=236730,NA,NA,NA,NA,NA,NA,NA,NA
chr6,74117907,74117907,G,C,R017_S,DDX43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,76551157,76551157,A,G,R017_S,MYO6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYO6,NM_001368139:c.*32A>G;NM_001368140:c.*32A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr6,76601103,76601103,T,A,R017_S,MYO6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,82943789,82943789,G,C,R017_S,IBTK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IBTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84883686,84883686,A,G,R017_S,CEP162,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP162,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,90467911,90467911,A,G,R017_S,MDN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,107231903,107231903,A,C,R017_S,LINC02532,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02532,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,108242921,108242921,A,G,R017_S,SEC63,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109962612,109962612,G,A,R017_S,AK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,112420356,112420356,T,G,R017_S,FAM229B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM229B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,116912178,116912178,T,C,R017_S,RWDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RWDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117725328,117725328,A,G,R017_S,ROS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117858440,117858440,A,G,R017_S,DCBLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCBLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,139581360,139581360,T,A,R017_S,TXLNB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXLNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144183451,144183451,C,G,R017_S,LTV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,151726285,151726285,A,G,R017_S,RMND1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RMND1,NM_017909:c.*85T>C;NM_001271937:c.*85T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr6,151726290,151726290,G,C,R017_S,RMND1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RMND1,NM_017909:c.*80C>G;NM_001271937:c.*80C>G,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152655050,152655050,C,G,R017_S,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,154763506,154763506,T,C,R017_S,CNKSR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNKSR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,169622649,169622649,A,G,R017_S,LOC101929523,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929523,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6064501,6064501,G,A,R017_S,EIF2AK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2AK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6509168,6509168,A,G,R017_S,KDELR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDELR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6509185,6509185,A,G,R017_S,KDELR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDELR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20768108,20768108,A,G,R017_S,ABCB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32598018,32598018,C,T,R017_S,AVL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AVL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,33066376,33066376,A,G,R017_S,NT5C3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5C3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43921644,43921644,C,T,R017_S,URGCP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,URGCP;URGCP-MRPS24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43978172,43978172,C,T,R017_S,UBE2D4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44713906,44713906,G,A,R017_S,OGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,49842231,49842231,T,C,R017_S,VWC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56049780,56049780,A,G,R017_S,NIPSNAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPSNAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56124146,56124146,A,T,R017_S,CCT6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,64378780,64378780,T,C,R017_S,ZNF273,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF273,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,65592834,65592834,T,C,R017_S,CRCP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRCP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76058686,76058686,G,A,R017_S,ZP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76634956,76634956,G,C,R017_S,DTX2P1-UPK3BP1-PMS2P11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DTX2P1-UPK3BP1-PMS2P11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,80427308,80427308,C,T,R017_S,SEMA3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87839210,87839210,T,C,R017_S,SRI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,91829936,91829936,A,G,R017_S,KRIT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRIT1,NM_001350680:c.*114T>C;NM_001350697:c.*114T>C;NM_001350681:c.*114T>C;NM_001350683:c.*114T>C;NM_001350684:c.*114T>C;NM_001350686:c.*114T>C;NM_001350685:c.*114T>C;NM_001350692:c.*114T>C;NM_004912:c.*114T>C;NM_001350693:c.*114T>C;NM_001350690:c.*114T>C;NM_001350682:c.*114T>C;NM_001350687:c.*114T>C;NM_001350689:c.*114T>C;NM_001350670:c.*114T>C;NM_001350669:c.*114T>C;NM_001350671:c.*114T>C;NM_001350672:c.*114T>C;NM_001350673:c.*114T>C;NM_001350674:c.*114T>C;NM_001350675:c.*114T>C;NM_001350676:c.*114T>C;NM_001350677:c.*114T>C;NM_001350678:c.*114T>C;NM_001350688:c.*114T>C;NM_194456:c.*114T>C;NM_194455:c.*114T>C;NM_001350695:c.*114T>C;NM_001350696:c.*114T>C;NM_001350694:c.*114T>C;NM_001350691:c.*114T>C;NM_194454:c.*114T>C;NM_001350679:c.*114T>C;NM_001013406:c.*114T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100385449,100385449,C,G,R017_S,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100385473,100385473,T,C,R017_S,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102665436,102665436,C,T,R017_S,FBXL13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103003264,103003264,G,A,R017_S,PSMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMC2;SLC26A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104719225,104719225,A,G,R017_S,KMT2E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107746847,107746847,G,A,R017_S,LAMB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,121691405,121691405,C,G,R017_S,PTPRZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122769428,122769428,T,G,R017_S,SLC13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128138244,128138244,C,T,R017_S,METTL2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129680641,129680641,C,T,R017_S,ZC3HC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3HC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129853458,129853458,A,G,R017_S,SSMEM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSMEM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,135322900,135322900,A,G,R017_S,NUP205,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP205,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139794056,139794056,A,G,R017_S,KDM7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141429516,141429516,T,C,R017_S,WEE2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,WEE2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151049820,151049820,G,T,R017_S,NUB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152345658,152345658,A,G,R017_S,XRCC2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,XRCC2,NM_005431:c.*69T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr8,9593069,9593069,A,G,R017_S,TNKS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNKS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10479119,10479119,C,A,R017_S,RP1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RP1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,15977858,15977858,T,C,R017_S,MSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17920661,17920661,A,G,R017_S,ASAH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,19683857,19683857,G,T,R017_S,INTS10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,19683867,19683867,G,A,R017_S,INTS10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,20003450,20003450,G,A,R017_S,SLC18A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22175877,22175877,T,C,R017_S,PIWIL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIWIL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27690742,27690742,A,C,R017_S,PBK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PBK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,33361133,33361133,T,C,R017_S,TTI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,33361148,33361148,T,C,R017_S,TTI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38122519,38122519,A,G,R017_S,PLPP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLPP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67514550,67514550,G,T,R017_S,MYBL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67968715,67968715,T,C,R017_S,COPS5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68105587,68105587,T,C,R017_S,CSPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,69011890,69011890,G,T,R017_S,PREX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,73979803,73979803,T,C,R017_S,SBSPON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBSPON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,77690746,77690746,A,C,R017_S,ZFHX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFHX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95521875,95521875,T,C,R017_S,VIRMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIRMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95543100,95543100,C,G,R017_S,VIRMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIRMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95871608,95871608,T,C,R017_S,INTS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,98731185,98731185,G,A,R017_S,MTDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,98731458,98731458,T,C,R017_S,MTDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,101020539,101020539,A,T,R017_S,RGS22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110432713,110432713,A,G,R017_S,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110510582,110510582,G,A,R017_S,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120114527,120114527,T,C,R017_S,COLEC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLEC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120114528,120114528,T,C,R017_S,COLEC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLEC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120114535,120114535,T,C,R017_S,COLEC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLEC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120813919,120813919,T,C,R017_S,TAF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120854901,120854901,T,C,R017_S,DSCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,4656170,4656170,A,G,R017_S,SPATA6L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA6L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,4656188,4656188,T,C,R017_S,SPATA6L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA6L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,20993158,20993158,A,G,R017_S,FOCAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOCAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35375908,35375908,T,C,R017_S,UNC13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35720685,35720685,A,T,R017_S,TLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35720698,35720698,T,C,R017_S,TLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36052363,36052363,T,C,R017_S,RECK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RECK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,72472709,72472709,T,G,R017_S,C9orf135,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C9orf135,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115956501,115956501,T,A,R017_S,FKBP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FKBP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123760115,123760115,A,C,R017_S,C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123760138,123760138,C,T,R017_S,C5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125524063,125524063,G,T,R017_S,OR1L6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR1L6;OR5C1,dist=11001;dist=27149,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127684258,127684258,A,G,R017_S,GOLGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131250115,131250115,A,C,R017_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131714983,131714983,T,C,R017_S,NUP188,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131761400,131761400,A,G,R017_S,NUP188,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132571111,132571111,A,G,R017_S,TOR1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOR1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132571121,132571121,A,G,R017_S,TOR1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOR1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134011468,134011468,T,C,R017_S,NUP214,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP214,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135946121,135946121,T,C,R017_S,CEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,1060334,1060334,T,C,R017_S,GTPBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13340314,13340314,T,C,R017_S,PHYH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHYH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14897828,14897828,A,G,R017_S,HSPA14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPA14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14950277,14950277,A,G,R017_S,DCLRE1C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DCLRE1C,NM_001033858:c.*130T>C;NM_022487:c.*130T>C;NM_001033855:c.*130T>C;NM_001033857:c.*130T>C;NM_001289078:c.*130T>C;NM_001289077:c.*130T>C;NM_001289076:c.*130T>C;NM_001289079:c.*130T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27356009,27356009,C,T,R017_S,ANKRD26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,28250719,28250719,T,C,R017_S,ARMC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,61962681,61962681,T,A,R017_S,ANK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,64414530,64414530,C,T,R017_S,ZNF365,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF365,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,64944278,64944278,G,A,R017_S,JMJD1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JMJD1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,68280265,68280265,T,C,R017_S,CTNNA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70139328,70139328,T,G,R017_S,RUFY2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUFY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70727040,70727040,A,C,R017_S,DDX21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75160677,75160677,G,T,R017_S,ANXA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75893675,75893675,G,T,R017_S,AP3M1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,79579846,79579846,A,G,R017_S,DLG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,93716485,93716485,T,G,R017_S,BTAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94366800,94366800,T,C,R017_S,KIF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94373487,94373487,A,T,R017_S,KIF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95421948,95421948,G,A,R017_S,PDE6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95421960,95421960,A,G,R017_S,PDE6C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96257024,96257024,T,C,R017_S,TBC1D12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,101997674,101997674,A,G,R017_S,CWF19L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CWF19L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103290914,103290914,C,T,R017_S,BTRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104850833,104850833,T,C,R017_S,NT5C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114171385,114171385,T,C,R017_S,ACSL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115381592,115381592,T,C,R017_S,NRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115481599,115481599,T,C,R017_S,CASP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,120907433,120907433,T,A,R017_S,SFXN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFXN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123241631,123241631,A,G,R017_S,FGFR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FGFR2,NM_001144919:c.*55T>C;NM_001144913:c.*55T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123241640,123241640,T,C,R017_S,FGFR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FGFR2,NM_001144919:c.*46A>G;NM_001144913:c.*46A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126090499,126090499,T,G,R017_S,OAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126515418,126515418,T,C,R017_S,ABRAXAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABRAXAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,127516279,127516279,T,C,R017_S,BCCIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCCIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6128924,6128924,A,G,R017_S,OR56B4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OR56B4,NM_001005181:c.-85A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr11,14498695,14498695,C,T,R017_S,COPB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18333321,18333321,A,G,R017_S,HPS5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18588104,18588104,T,G,R017_S,UEVLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UEVLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,27397724,27397724,C,T,R017_S,LGR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,27397729,27397729,T,G,R017_S,LGR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,34145454,34145454,C,T,R017_S,NAT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46792245,46792245,T,C,R017_S,CKAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47074117,47074117,T,C,R017_S,C11orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,55872417,55872417,C,G,R017_S,OR8H2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OR8H2,dist=102,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60199998,60199998,T,C,R017_S,MS4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60199999,60199999,A,G,R017_S,MS4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73675859,73675859,C,T,R017_S,DNAJB13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76908662,76908662,T,C,R017_S,MYO7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77784276,77784276,A,G,R017_S,NDUFC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFC2;NDUFC2-KCTD14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89173765,89173765,A,T,R017_S,NOX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,112014269,112014269,G,T,R017_S,IL18,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IL18,NM_001243211:c.*50C>A;NM_001562:c.*50C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117151972,117151972,T,C,R017_S,RNF214,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF214,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118884039,118884039,T,C,R017_S,CCDC84,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,120348326,120348326,T,C,R017_S,ARHGEF12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125851269,125851269,G,A,R017_S,CDON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125851273,125851273,G,A,R017_S,CDON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125873691,125873691,C,G,R017_S,CDON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2970312,2970312,T,C,R017_S,FOXM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6959444,6959444,C,A,R017_S,CDCA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDCA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,14657004,14657004,T,A,R017_S,PLBD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLBD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,16047120,16047120,A,G,R017_S,STRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21428200,21428200,G,A,R017_S,SLCO1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21971021,21971021,T,C,R017_S,ABCC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,32764287,32764287,T,C,R017_S,FGD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,32786699,32786699,A,G,R017_S,FGD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40692400,40692400,T,C,R017_S,LRRK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46633392,46633392,A,C,R017_S,SLC38A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54736921,54736921,A,G,R017_S,COPZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,55687998,55687998,T,G,R017_S,OR6C6,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR6C6,dist=74,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69152760,69152760,T,C,R017_S,SLC35E3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35E3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88928407,88928407,A,G,R017_S,KITLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KITLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94620543,94620543,C,T,R017_S,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,100604229,100604229,A,G,R017_S,ACTR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101682882,101682882,T,C,R017_S,UTP20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101746042,101746042,A,G,R017_S,UTP20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102128602,102128602,T,A,R017_S,SYCP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104514095,104514095,G,A,R017_S,NFYB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105431813,105431813,A,G,R017_S,ALDH1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110897334,110897334,T,C,R017_S,GPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112530745,112530745,A,G,R017_S,NAA25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113539969,113539969,T,C,R017_S,RASAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113553929,113553929,T,C,R017_S,RASAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122295158,122295158,C,G,R017_S,HPD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122404769,122404769,T,C,R017_S,WDR66,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR66,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122723051,122723051,A,G,R017_S,VPS33A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS33A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123297706,123297706,T,C,R017_S,CCDC62,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC62,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123789052,123789052,A,G,R017_S,SBNO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBNO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123815739,123815739,A,G,R017_S,SBNO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBNO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124179979,124179979,C,T,R017_S,TCTN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21729734,21729734,C,T,R017_S,SKA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21729736,21729736,A,G,R017_S,SKA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21729758,21729758,A,C,R017_S,SKA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,22113628,22113628,C,G,R017_S,MICU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,22113716,22113716,T,C,R017_S,MICU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,33637890,33637890,T,G,R017_S,KL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,48953841,48953841,C,T,R017_S,RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50321227,50321227,T,C,R017_S,KPNA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,51503560,51503560,T,G,R017_S,RNASEH2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNASEH2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,78211370,78211370,T,C,R017_S,SCEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,79952843,79952843,A,G,R017_S,RBM26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95859100,95859100,C,T,R017_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95859105,95859105,T,C,R017_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,103474544,103474544,T,C,R017_S,BIVM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIVM;BIVM-ERCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,108939239,108939239,G,C,R017_S,TNFSF13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFSF13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113908896,113908896,G,A,R017_S,CUL4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20586635,20586635,G,C,R017_S,OR4K17,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR4K17,dist=38,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21798577,21798577,T,C,R017_S,RPGRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPGRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23416272,23416272,T,C,R017_S,LOC101926933,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101926933,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35482441,35482441,A,G,R017_S,SRP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39562293,39562293,A,G,R017_S,SEC23A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC23A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39562351,39562351,A,G,R017_S,SEC23A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC23A,NA,NA,NA,D,.,N,D,N,T
chr14,45536028,45536028,A,C,R017_S,TOGARAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOGARAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50559411,50559411,A,C,R017_S,LINC01599,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01599,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50825634,50825634,T,A,R017_S,CDKL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53138267,53138267,T,C,R017_S,ERO1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERO1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53525110,53525110,A,G,R017_S,DDHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,60615965,60615965,A,G,R017_S,DHRS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73653426,73653426,G,A,R017_S,PSEN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSEN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75131442,75131442,A,G,R017_S,AREL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AREL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75329174,75329174,A,G,R017_S,PROX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77907308,77907308,A,G,R017_S,VIPAS39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIPAS39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,81574712,81574712,C,T,R017_S,TSHR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSHR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,90738499,90738499,G,A,R017_S,NRDE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NRDE2,NM_017970:c.*6181C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,90738517,90738517,T,C,R017_S,NRDE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NRDE2,NM_017970:c.*6163A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92054497,92054497,C,T,R017_S,CATSPERB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93688843,93688843,T,C,R017_S,UBR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104244972,104244972,C,A,R017_S,PPP1R13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,31340211,31340211,G,A,R017_S,TRPM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40477956,40477956,A,G,R017_S,BUB1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BUB1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40937112,40937112,C,T,R017_S,KNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41869950,41869950,T,C,R017_S,TYRO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYRO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43262591,43262591,C,G,R017_S,UBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43307812,43307812,C,G,R017_S,UBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43307813,43307813,G,C,R017_S,UBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,55731572,55731572,G,T,R017_S,DNAAF4-CCPG1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNAAF4-CCPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59974513,59974513,A,G,R017_S,BNIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62205431,62205431,A,G,R017_S,VPS13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62986451,62986451,G,C,R017_S,TLN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64668898,64668898,G,A,R017_S,PCLAF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCLAF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64717871,64717871,G,A,R017_S,TRIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72270363,72270363,T,G,R017_S,MYO9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75983265,75983265,T,C,R017_S,CSPG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81427723,81427723,C,T,R017_S,CFAP161,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP161,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,89811572,89811572,C,G,R017_S,FANCI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90617245,90617245,C,A,R017_S,ZNF710,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF710,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,248961,248961,C,G,R017_S,LUC7L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LUC7L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2115354,2115354,T,C,R017_S,TSC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10527310,10527310,A,G,R017_S,ATF7IP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF7IP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14028247,14028247,T,C,R017_S,ERCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15167066,15167066,C,T,R017_S,PDXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXDC1;RRN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15761084,15761084,T,C,R017_S,NDE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19056818,19056818,T,C,R017_S,TMC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27556590,27556590,A,G,R017_S,GTF3C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31766197,31766197,A,C,R017_S,ZNF720,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF720,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56534985,56534985,A,G,R017_S,BBS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56535114,56535114,T,C,R017_S,BBS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57761154,57761154,G,A,R017_S,DRC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66432518,66432518,T,C,R017_S,CDH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66591974,66591974,A,G,R017_S,CKLF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKLF;CKLF-CMTM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66763966,66763966,C,G,R017_S,DYNC1LI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1LI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67412411,67412411,A,G,R017_S,LRRC36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70363075,70363075,G,A,R017_S,LOC100506083,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100506083,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70562724,70562724,G,T,R017_S,SF3B3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF3B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,78466281,78466281,A,G,R017_S,WWOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89881088,89881088,C,T,R017_S,FANCA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89881103,89881103,T,C,R017_S,FANCA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2233502,2233502,G,A,R017_S,TSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6483247,6483247,C,A,R017_S,KIAA0753,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0753,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7626858,7626858,A,G,R017_S,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7680236,7680236,T,C,R017_S,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8396415,8396415,C,T,R017_S,MYH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8396416,8396416,G,A,R017_S,MYH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9511375,9511375,A,G,R017_S,CFAP52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9511403,9511403,T,G,R017_S,CFAP52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10206945,10206945,A,G,R017_S,MYH13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10626517,10626517,T,C,R017_S,TMEM220,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM220,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,11532657,11532657,C,T,R017_S,DNAH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15516147,15516147,C,A,R017_S,CDRT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDRT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18827414,18827414,A,G,R017_S,PRPSAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPSAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18827416,18827416,A,G,R017_S,PRPSAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPSAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19470007,19470007,A,G,R017_S,SLC47A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC47A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26679860,26679860,C,T,R017_S,POLDIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLDIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26969416,26969416,C,T,R017_S,KIAA0100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27844399,27844399,G,A,R017_S,TAOK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30214413,30214413,A,G,R017_S,UTP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30216228,30216228,T,C,R017_S,UTP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33446049,33446049,A,G,R017_S,RAD51L3-RFFL,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RAD51L3-RFFL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33466205,33466205,T,C,R017_S,NLE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34937725,34937725,G,A,R017_S,GGNBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GGNBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35797763,35797763,T,C,R017_S,TADA2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TADA2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37588351,37588351,C,T,R017_S,MED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37676117,37676117,A,G,R017_S,CDK12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38319668,38319668,C,G,R017_S,CASC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38340307,38340307,A,G,R017_S,RAPGEFL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEFL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38923014,38923014,A,C,R017_S,KRT26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38949318,38949318,T,C,R017_S,KRT28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40148552,40148552,A,G,R017_S,DNAJC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40369149,40369149,G,A,R017_S,STAT5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42158351,42158351,T,C,R017_S,HDAC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42161303,42161303,A,C,R017_S,HDAC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45754603,45754603,T,C,R017_S,KPNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47888738,47888738,A,G,R017_S,KAT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,49057007,49057007,T,G,R017_S,SPAG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57272277,57272277,A,G,R017_S,PRR11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRR11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57272298,57272298,A,G,R017_S,PRR11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRR11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,63685155,63685155,A,G,R017_S,CEP112,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP112,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73897046,73897046,A,G,R017_S,MRPL38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74340915,74340915,A,T,R017_S,PRPSAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPSAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76547834,76547834,G,A,R017_S,DNAH17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78012081,78012081,A,G,R017_S,CCDC40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78316876,78316876,A,G,R017_S,RNF213,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF213,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79634624,79634624,A,T,R017_S,CCDC137,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC137,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80443276,80443276,A,G,R017_S,NARF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NARF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12535689,12535689,T,C,R017_S,SPIRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPIRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,20951333,20951333,C,A,R017_S,TMEM241,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM241,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,20951339,20951339,A,G,R017_S,TMEM241,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM241,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21095748,21095748,T,C,R017_S,RMC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21099215,21099215,A,C,R017_S,RMC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,28673468,28673468,C,T,R017_S,DSC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,32887958,32887958,A,G,R017_S,ZNF271P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ZNF271P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43570602,43570602,A,G,R017_S,PSTPIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSTPIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,46808290,46808290,C,A,R017_S,DYM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,48331430,48331430,A,G,R017_S,MRO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2194437,2194437,C,T,R017_S,DOT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4430450,4430450,G,C,R017_S,CHAF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHAF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5727185,5727185,A,G,R017_S,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5737310,5737310,A,G,R017_S,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10284453,10284453,T,C,R017_S,DNMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11408726,11408726,G,A,R017_S,TSPAN16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14040085,14040085,A,T,R017_S,CC2D1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CC2D1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14143429,14143429,T,C,R017_S,IL27RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL27RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14774453,14774453,G,C,R017_S,ADGRE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19946067,19946067,G,A,R017_S,ZNF56,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF56,NM_001355194:c.-123G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19989530,19989530,A,G,R017_S,ZNF253,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF253,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,20116708,20116708,T,G,R017_S,ZNF682,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF682,NM_033196:c.*106A>C;NM_001077349:c.*106A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22002041,22002041,T,C,R017_S,ZNF43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23329429,23329429,A,G,R017_S,ZNF730,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF730,NM_001277403:c.*71A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23674961,23674961,T,C,R017_S,LINC01224,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01224;ZNF675,dist=76085;dist=160642,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33137256,33137256,C,T,R017_S,ANKRD27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33586592,33586592,T,G,R017_S,GPATCH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38779882,38779882,G,A,R017_S,SPINT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPINT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45536061,45536061,T,C,R017_S,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46345366,46345366,A,T,R017_S,SYMPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYMPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46542989,46542989,T,C,R017_S,IGFL4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IGFL4,NM_001002923:c.*161A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48918390,48918390,A,G,R017_S,GRIN2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIN2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49388891,49388891,T,A,R017_S,TULP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TULP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54185315,54185315,T,C,R017_S,MIR520F,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR520F,dist=98,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54314650,54314650,T,C,R017_S,NLRP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54848564,54848564,C,G,R017_S,LILRA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55493410,55493410,G,T,R017_S,NLRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56696498,56696498,A,C,R017_S,GALP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57176900,57176900,C,T,R017_S,ZNF835,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF835,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3564448,3564448,C,T,R017_S,ATRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3564466,3564466,G,A,R017_S,ATRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,6065610,6065610,A,G,R017_S,FERMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FERMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,13750411,13750411,T,C,R017_S,ESF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,13750414,13750414,G,C,R017_S,ESF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18462138,18462138,T,C,R017_S,POLR3F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR3F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32161807,32161807,T,C,R017_S,CBFA2T2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CBFA2T2,NM_005093:c.-200T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32216321,32216321,A,C,R017_S,CBFA2T2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBFA2T2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35563336,35563336,T,C,R017_S,SAMHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48301081,48301081,T,C,R017_S,B4GALT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,58457256,58457256,T,C,R017_S,SYCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30303423,30303423,T,G,R017_S,LTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30303425,30303425,A,G,R017_S,LTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33982023,33982023,T,C,R017_S,C21orf59-TCP10L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C21orf59-TCP10L;CFAP298,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34128694,34128694,T,C,R017_S,PAXBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAXBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40781801,40781801,C,T,R017_S,LCA5L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCA5L;WRB-SH3BGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47832917,47832917,G,C,R017_S,PCNT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19207258,19207258,T,G,R017_S,CLTCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19207265,19207265,C,G,R017_S,CLTCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29120833,29120833,T,C,R017_S,CHEK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHEK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29153213,29153213,A,G,R017_S,HSCB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HSCB,NM_001318314:c.*166A>G;NM_001318315:c.*192A>G;NM_172002:c.*56A>G;NM_001318316:c.*56A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32620187,32620187,G,A,R017_S,SLC5A4-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SLC5A4-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32841472,32841472,G,T,R017_S,BPIFC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38333710,38333710,T,C,R017_S,MICALL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICALL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38536264,38536264,T,C,R017_S,PLA2G6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38933476,38933476,T,C,R017_S,DMC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40712108,40712108,A,C,R017_S,TNRC6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNRC6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46709684,46709684,G,A,R017_S,GTSE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTSE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50547323,50547323,T,C,R017_S,MOV10L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOV10L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,2867231,2867231,A,C,R017_S,ARSE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARSE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15677337,15677337,G,A,R017_S,CLTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,17086449,17086449,T,A,R017_S,REPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,23748782,23748782,C,T,R017_S,ACOT9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOT9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,40572964,40572964,A,G,R017_S,MED14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41469082,41469082,C,T,R017_S,CASK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49065562,49065562,T,C,R017_S,CACNA1F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49065567,49065567,A,G,R017_S,CACNA1F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,50127899,50127899,T,A,R017_S,DGKK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53661319,53661319,A,G,R017_S,HUWE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69177079,69177079,C,T,R017_S,EDA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70607379,70607379,C,T,R017_S,TAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73095220,73095220,A,T,R017_S,XIST,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,XIST;JPX,dist=22632;dist=68939,NA,NA,NA,NA,NA,NA,NA,NA
chrX,99887385,99887385,C,A,R017_S,TSPAN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100103868,100103868,T,C,R017_S,NOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107423702,107423702,T,C,R017_S,COL4A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107464312,107464312,G,A,R017_S,COL4A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110995924,110995924,A,G,R017_S,ALG13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,111025110,111025110,T,C,R017_S,TRPC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117695591,117695591,A,G,R017_S,DOCK11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129377448,129377448,T,C,R017_S,ZNF280C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF280C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,131197350,131197350,A,G,R017_S,STK26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133921398,133921398,A,G,R017_S,FAM122B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM122B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,138882097,138882097,T,C,R017_S,ATP11C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,148035344,148035344,G,C,R017_S,AFF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168683661,168683661,G,C,R018_F,DPT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247608151,247608151,G,T,R018_F,NLRP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32429806,32429806,C,A,R018_F,SLC30A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC30A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37365352,37365352,T,A,R018_F,EIF2AK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2AK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,56229288,56229288,C,T,R018_F,MIER3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIER3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150585064,150585064,G,A,R018_F,CCDC69,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC69,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,158500487,158500487,C,T,R018_F,EBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177482610,177482610,C,T,R018_F,FAM153CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM153CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,49701399,49701399,T,C,R018_F,CRISP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45148415,45148415,C,A,R018_F,TBRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,144707401,144707401,C,T,R018_F,TPK1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TPK1;CNTNAP2,dist=174255;dist=1763962,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151716925,151716925,G,T,R018_F,GALNTL5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GALNTL5,NM_145292:c.*39G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,152497505,152497505,G,T,R018_F,ACTR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82392546,82392546,G,T,R018_F,FABP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FABP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34662491,34662491,A,G,R018_F,CCL27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCL27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,129911686,129911686,C,T,R018_F,MKI67,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MKI67,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59807922,59807922,C,T,R018_F,OOSP2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OOSP2,NM_173801:c.-11C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr11,78204035,78204035,C,T,R018_F,NARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102650183,102650183,C,T,R018_F,MMP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118883908,118883908,T,C,R018_F,CCDC84,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,90004352,90004352,G,A,R018_F,ATP2B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,45008697,45008697,C,A,R018_F,TSC22D1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TSC22D1,NM_001243798:c.*65G>T;NM_001243797:c.*65G>T;NM_006022:c.*65G>T;NM_183422:c.*65G>T,NA,NA,NA,NA,NA,NA,NA,NA
chr14,61112948,61112948,G,T,R018_F,SIX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SIX1,NM_005982:c.*53C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100607436,100607436,G,A,R018_F,EVL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EVL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52066068,52066068,C,G,R018_F,TMOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31500178,31500178,C,T,R018_F,SLC5A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57637019,57637019,G,A,R018_F,ADGRG5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADGRG5;ADGRG1,dist=25919;dist=16631,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15142935,15142935,G,A,R018_F,PMP22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PMP22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76525475,76525475,T,G,R018_F,DNAH17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,64202366,64202366,C,A,R018_F,CDH19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10753921,10753921,C,A,R018_F,SLC44A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC44A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15806883,15806883,C,G,R018_F,CYP4F12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42133417,42133417,G,A,R018_F,CEACAM4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CEACAM4,NM_001362495:c.-86C>T;NM_001362492:c.-86C>T;NM_001362493:c.-86C>T;NM_001817:c.-86C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33859643,33859643,G,A,R018_F,MMP24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP24;MMP24-AS1-EDEM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62365995,62365995,A,C,R018_F,ZGPAT,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZGPAT,NM_032527:exon5:c.872-2A>C,NA,NA,.,.,N,.,.,.
chr22,22025384,22025384,G,T,R018_F,PPIL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16361925,16361925,G,A,R018_S,CLCNKA,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CLCNKA;CLCNKB,dist=1380;dist=8306,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16361989,16361989,C,T,R018_S,CLCNKA,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CLCNKA;CLCNKB,dist=1444;dist=8242,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22329346,22329346,G,A,R018_S,CELA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24387507,24387507,C,A,R018_S,MYOM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51910829,51910829,A,G,R018_S,EPS15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92177792,92177792,C,A,R018_S,TGFBR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TGFBR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151681566,151681566,A,T,R018_S,CELF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CELF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161761842,161761842,G,C,R018_S,ATF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,162748566,162748566,G,T,R018_S,DDR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32666597,32666597,T,C,R018_S,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80772287,80772287,T,C,R018_S,CTNNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95522897,95522897,G,A,R018_S,ANKRD20A8P,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ANKRD20A8P,dist=77,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96593108,96593108,T,G,R018_S,ANKRD36C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD36C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135260628,135260628,A,G,R018_S,TMEM163,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM163,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,141092168,141092168,G,A,R018_S,LRP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152492671,152492671,T,C,R018_S,NEB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219258926,219258926,C,T,R018_S,SLC11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,17255882,17255882,G,T,R018_S,TBC1D5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37053434,37053434,A,T,R018_S,MLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52829679,52829679,G,A,R018_S,ITIH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58296379,58296379,G,C,R018_S,HTD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTD2;RPP14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195723844,195723844,T,G,R018_S,SDHAP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SDHAP1;TFRC,dist=6694;dist=52311,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190874183,190874183,C,A,R018_S,FRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190878447,190878447,T,C,R018_S,FRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,39141190,39141190,C,T,R018_S,FYB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FYB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,102469364,102469364,A,G,R018_S,PPIP5K2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIP5K2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147928484,147928484,A,G,R018_S,HTR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,158500487,158500487,C,T,R018_S,EBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177482610,177482610,C,T,R018_S,FAM153CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM153CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179025589,179025589,A,G,R018_S,LOC101928445,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928445,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179025590,179025590,G,A,R018_S,LOC101928445,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928445,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,49701399,49701399,T,C,R018_S,CRISP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109286102,109286102,G,T,R018_S,ARMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,26251400,26251400,T,C,R018_S,CBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45148415,45148415,C,A,R018_S,TBRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72717800,72717800,C,T,R018_S,NSUN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSUN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128477343,128477343,G,A,R018_S,FLNC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLNC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,144150796,144150796,T,C,R018_S,TPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,144707401,144707401,C,T,R018_S,TPK1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TPK1;CNTNAP2,dist=174255;dist=1763962,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11188533,11188533,C,A,R018_S,SLC35G5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC35G5,NM_054028:c.-83C>A,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11996360,11996360,A,G,R018_S,FAM66D,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM66D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,15480810,15480810,T,A,R018_S,TUSC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUSC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,43147564,43147564,C,T,R018_S,POTEA,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,POTEA,dist=21,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33926912,33926912,C,T,R018_S,UBAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34662491,34662491,A,G,R018_S,CCL27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCL27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97194288,97194288,G,T,R018_S,SORBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,129911686,129911686,C,T,R018_S,MKI67,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MKI67,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,10626117,10626117,A,T,R018_S,MRVI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRVI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67564104,67564104,C,T,R018_S,FAM86C2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM86C2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76908662,76908662,T,C,R018_S,MYO7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,78204035,78204035,C,T,R018_S,NARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102650183,102650183,C,T,R018_S,MMP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118883908,118883908,T,C,R018_S,CCDC84,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1480923,1480923,G,C,R018_S,ERC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1480943,1480943,C,T,R018_S,ERC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8765220,8765220,T,G,R018_S,AICDA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AICDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9571427,9571427,G,A,R018_S,DDX12P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DDX12P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10145964,10145964,T,C,R018_S,CLEC1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,22439233,22439233,T,A,R018_S,ST8SIA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST8SIA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133365929,133365929,G,A,R018_S,GOLGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25016202,25016202,T,C,R018_S,PARP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,19573170,19573170,T,C,R018_S,POTEG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22573892,22573892,G,A,R018_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=434660;dist=273916,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24791217,24791217,C,A,R018_S,ADCY4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76232397,76232397,G,A,R018_S,TTLL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106235528,106235528,C,T,R018_S,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=96384;dist=88765,NA,NA,NA,NA,NA,NA,NA,NA
chr14,107218748,107218748,G,T,R018_S,LINC00221,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00221;MIR5195,dist=267219;dist=40352,NA,NA,NA,NA,NA,NA,NA,NA
chr15,20772184,20772184,G,C,R018_S,GOLGA8CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GOLGA8CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,28380887,28380887,C,A,R018_S,HERC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,32885731,32885731,C,A,R018_S,LOC101928042,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928042,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52066068,52066068,C,G,R018_S,TMOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74559145,74559145,G,T,R018_S,CCDC33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78214491,78214491,G,A,R018_S,LOC645752,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC645752,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,7629716,7629716,G,C,R018_S,RBFOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21820972,21820972,T,C,R018_S,RRN3P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RRN3P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31500178,31500178,C,T,R018_S,SLC5A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,33380021,33380021,G,A,R018_S,LOC390705,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC390705;ENPP7P13,dist=81319;dist=191823,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55867006,55867006,T,C,R018_S,CES1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CES1,NM_001025194:c.-39A>G;NM_001025195:c.-39A>G;NM_001266:c.-39A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55867013,55867013,T,C,R018_S,CES1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CES1,dist=5,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70268889,70268889,A,C,R018_S,SMG1P7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SMG1P7;EXOSC6,dist=8953;dist=11793,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15142935,15142935,G,A,R018_S,PMP22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PMP22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40475465,40475465,G,A,R018_S,STAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56393297,56393297,G,A,R018_S,TSPOAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPOAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58092521,58092521,G,A,R018_S,TBC1D3P1-DHX40P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TBC1D3P1-DHX40P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58092553,58092553,C,T,R018_S,TBC1D3P1-DHX40P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TBC1D3P1-DHX40P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60216079,60216079,A,G,R018_S,MED13,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MED13;TBC1D3P2,dist=73440;dist=125988,NA,NA,NA,NA,NA,NA,NA,NA
chr18,5890149,5890149,G,A,R018_S,TMEM200C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM200C,NM_001080209:c.*48C>T,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44416546,44416546,C,A,R018_S,PIAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7512066,7512066,T,A,R018_S,ARHGEF18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7692985,7692985,G,C,R018_S,XAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14507072,14507072,G,A,R018_S,ADGRE5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15806883,15806883,C,G,R018_S,CYP4F12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP4F12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23185802,23185802,C,T,R018_S,ZNF728,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF728,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52719935,52719935,C,G,R018_S,PPP2R1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55594735,55594735,C,T,R018_S,EPS8L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS8L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29624012,29624012,T,A,R018_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30617732,30617732,C,T,R018_S,CCM2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCM2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31020792,31020792,A,G,R018_S,ASXL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASXL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42966067,42966067,C,T,R018_S,R3HDML,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,R3HDML,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50313836,50313836,T,C,R018_S,ATP9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62365995,62365995,A,C,R018_S,ZGPAT,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ZGPAT,NM_032527:exon5:c.872-2A>C,NA,NA,.,.,N,.,.,.
chr21,46011170,46011170,T,C,R018_S,KRTAP10-6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTAP10-6,NM_198688:c.*98A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47832917,47832917,G,C,R018_S,PCNT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21052383,21052383,G,A,R018_S,POM121L4P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,POM121L4P;TMEM191A,dist=6374;dist=3019,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29683133,29683133,T,C,R018_S,EWSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EWSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32634912,32634912,C,A,R018_S,SLC5A4-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SLC5A4-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37708236,37708236,G,A,R018_S,CYTH4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,81753058,81753058,T,C,R018_S,SH3BGRL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SH3BGRL;POU3F4,dist=1199012;dist=1010240,NA,NA,NA,NA,NA,NA,NA,NA
chrX,144329290,144329290,A,G,R018_S,SPANXN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPANXN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,144329309,144329309,G,A,R018_S,SPANXN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPANXN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,14107015,14107015,C,T,R018_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;GYG2P1,dist=NONE;dist=410900,NA,NA,NA,NA,NA,NA,NA,NA
chr1,157737380,157737380,A,G,R019_F,FCRL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRL2,NA,NA,NA,D,.,N,T,N,T
chr2,27666161,27666161,C,T,R019_F,KRTCAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRTCAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,58374343,58374343,T,C,R019_F,VRK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VRK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179620942,179620942,A,T,R019_F,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,192228416,192228416,T,C,R019_F,MYO1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73942838,73942838,A,C,R019_F,ANKRD17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169472783,169472783,G,T,R019_F,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,94124394,94124394,T,G,R019_F,EPHA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160968772,160968772,A,T,R019_F,LPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2946524,2946524,G,A,R019_F,CARD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73254464,73254464,G,T,R019_F,METTL27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,72952045,72952045,A,T,R019_F,MSC-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MSC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82665289,82665289,T,A,R019_F,CHMP4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHMP4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,18533293,18533293,A,T,R019_F,ADAMTSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112144086,112144086,A,C,R019_F,PTPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112153417,112153417,C,T,R019_F,PTPN3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PTPN3,NM_001145369:exon16:c.1713+1G>A;NM_001145370:exon15:c.1578+1G>A;NM_002829:exon21:c.2106+1G>A;NM_001145372:exon10:c.1110+1G>A;NM_001145368:exon20:c.1971+1G>A;NM_001145371:exon11:c.1245+1G>A,NA,NA,.,.,D,.,.,.
chr9,127789060,127789060,T,C,R019_F,SCAI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140708980,140708980,C,T,R019_F,EHMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,21435284,21435284,G,A,R019_F,NEBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEBL,NA,NA,NA,D,.,N,T,D,T
chr10,93723722,93723722,A,T,R019_F,BTAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64522369,64522369,G,A,R019_F,PYGM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYGM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,653419,653419,T,C,R019_F,B4GALNT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALNT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,119957747,119957747,C,T,R019_F,CCDC60,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC60,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,80806647,80806647,A,G,R019_F,ARNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56682787,56682787,C,T,R019_F,MT1DP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MT1DP;MT1B,dist=3934;dist=3011,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1715449,1715449,G,C,R019_F,SMYD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMYD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7948470,7948470,C,A,R019_F,ALOX15B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALOX15B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72477393,72477393,G,A,R019_F,CD300A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD300A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6859897,6859897,G,T,R019_F,ARHGAP28,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ARHGAP28,NM_001366230:exon5:c.726+1G>T;NM_001366231:exon5:c.726+1G>T;NM_001010000:exon4:c.249+1G>T,NA,NA,.,.,D,.,.,.
chr18,70502513,70502513,C,T,R019_F,NETO1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NETO1,NM_001354021:c.*37G>A;NM_138999:c.*37G>A;NM_001354022:c.*37G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,536046,536046,C,T,R019_F,CDC34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43348500,43348500,C,T,R019_F,KCNK15-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,KCNK15-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23063679,23063679,C,A,R019_F,GGTLC2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGTLC2;MIR650,dist=73311;dist=101591,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1444514,1444514,G,A,R019_S,ATAD3B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ATAD3B;ATAD3A,dist=11286;dist=3028,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16909406,16909406,T,G,R019_S,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16950511,16950511,G,C,R019_S,CROCCP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CROCCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16972239,16972239,G,A,R019_S,MST1P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MST1P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16974758,16974758,G,A,R019_S,MST1P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MST1P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67485921,67485921,A,C,R019_S,SLC35D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,86426837,86426837,C,T,R019_S,COL24A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL24A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,99156755,99156755,A,T,R019_S,SNX7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120927095,120927095,G,A,R019_S,LOC100996318,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996318,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154542364,154542364,T,C,R019_S,CHRNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155719467,155719467,G,T,R019_S,MSTO2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MSTO2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158224577,158224577,G,C,R019_S,CD1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158224579,158224579,G,C,R019_S,CD1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168513320,168513320,A,G,R019_S,XCL2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,XCL2,dist=85,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200572491,200572491,T,A,R019_S,KIF14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,214656022,214656022,T,C,R019_S,PTPN14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27666161,27666161,C,T,R019_S,KRTCAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRTCAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114258145,114258145,G,C,R019_S,FOXD4L1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FOXD4L1,NM_012184:c.*85G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114355998,114355998,C,G,R019_S,WASH2P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,133014513,133014513,G,A,R019_S,MIR663B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR663B,dist=26,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135260628,135260628,A,G,R019_S,TMEM163,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM163,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,192228416,192228416,T,C,R019_S,MYO1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15720744,15720744,T,C,R019_S,ANKRD28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD28;BTD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138121139,138121139,G,A,R019_S,MRAS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MRAS,NM_012219:c.*28G>A;NM_001252091:c.*28G>A;NM_001085049:c.*28G>A;NM_001252093:c.*28G>A;NM_001252092:c.*28G>A;NM_001252090:c.*28G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169513207,169513207,A,G,R019_S,LRRC34,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRRC34,NM_001172780:c.*773T>C;NM_001370609:c.*773T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195345966,195345966,G,A,R019_S,APOD,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,APOD;LOC105374297,dist=35155;dist=27540,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195346861,195346861,T,C,R019_S,APOD,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,APOD;LOC105374297,dist=36050;dist=26645,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195399599,195399599,T,C,R019_S,SDHAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SDHAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195400728,195400728,A,G,R019_S,SDHAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SDHAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195410687,195410687,T,A,R019_S,SDHAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SDHAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195410689,195410689,C,T,R019_S,SDHAP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SDHAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4190438,4190438,A,G,R019_S,OTOP1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OTOP1,dist=16,NA,NA,NA,NA,NA,NA,NA,NA
chr5,168690612,168690612,A,G,R019_S,MIR585,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR585,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,169472783,169472783,G,T,R019_S,DOCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180041242,180041242,T,C,R019_S,FLT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,8422929,8422929,T,C,R019_S,SLC35B3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,69666197,69666197,G,A,R019_S,ADGRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,80409209,80409209,T,A,R019_S,SH3BGRL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3BGRL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,94124394,94124394,T,G,R019_S,EPHA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160968772,160968772,A,T,R019_S,LPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168479474,168479474,A,G,R019_S,FRMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168479476,168479476,G,A,R019_S,FRMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2946524,2946524,G,A,R019_S,CARD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73254464,73254464,G,T,R019_S,METTL27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138314980,138314980,C,T,R019_S,SVOPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVOPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86556162,86556162,G,C,R019_S,CA2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CA2;REXO1L2P,dist=162440;dist=10666,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131129283,131129283,A,G,R019_S,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68433588,68433588,A,T,R019_S,FRG1JP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,97177680,97177680,C,T,R019_S,MFSD14B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD14B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112144086,112144086,A,C,R019_S,PTPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112153417,112153417,C,T,R019_S,PTPN3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PTPN3,NM_001145369:exon16:c.1713+1G>A;NM_001145370:exon15:c.1578+1G>A;NM_002829:exon21:c.2106+1G>A;NM_001145372:exon10:c.1110+1G>A;NM_001145368:exon20:c.1971+1G>A;NM_001145371:exon11:c.1245+1G>A,NA,NA,.,.,D,.,.,.
chr9,140087188,140087188,G,A,R019_S,TPRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140106913,140106913,A,G,R019_S,NDOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140708980,140708980,C,T,R019_S,EHMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,141070139,141070139,C,T,R019_S,TUBBP5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TUBBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,21435284,21435284,G,A,R019_S,NEBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEBL,NA,NA,NA,D,.,N,T,D,T
chr10,89127071,89127071,A,T,R019_S,NUTM2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUTM2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135439245,135439245,G,A,R019_S,FRG2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRG2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64522369,64522369,G,A,R019_S,PYGM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYGM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1480931,1480931,G,A,R019_S,ERC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1480943,1480943,C,T,R019_S,ERC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9707329,9707329,G,T,R019_S,OVOS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,OVOS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56817506,56817506,A,G,R019_S,TIMELESS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMELESS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49034055,49034055,T,C,R019_S,RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111145428,111145428,G,A,R019_S,COL4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24475265,24475265,T,C,R019_S,DHRS4L2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DHRS4L2,NM_001193636:c.*193T>C;NM_001193637:c.*193T>C;NM_001193635:c.*193T>C;NM_198083:c.*193T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105618088,105618088,C,T,R019_S,JAG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106092401,106092401,A,G,R019_S,MIR8071-1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR8071-1;MIR8071-1,dist=4884;dist=14104,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106237769,106237769,T,C,R019_S,ELK2AP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ELK2AP;MIR4507,dist=98625;dist=86524,NA,NA,NA,NA,NA,NA,NA,NA
chr15,58287415,58287415,C,A,R019_S,ALDH1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59487640,59487640,A,G,R019_S,MYO1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74364766,74364766,G,A,R019_S,GOLGA6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,80806647,80806647,A,G,R019_S,ARNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,82635117,82635117,T,C,R019_S,GOLGA6L10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GOLGA6L10,NM_001164465:c.*13A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85055872,85055872,C,T,R019_S,GOLGA6L5P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GOLGA6L5P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,100332807,100332807,C,T,R019_S,DNM1P46,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DNM1P46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102513969,102513969,A,G,R019_S,WASH3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,WASH3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102516466,102516466,C,G,R019_S,WASH3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,WASH3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31391817,31391817,A,C,R019_S,ITGAX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55867013,55867013,T,C,R019_S,CES1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CES1,dist=5,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56682787,56682787,C,T,R019_S,MT1DP,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MT1DP;MT1B,dist=3934;dist=3011,NA,NA,NA,NA,NA,NA,NA,NA
chr16,62054968,62054968,G,C,R019_S,CDH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15508521,15508521,T,C,R019_S,CDRT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDRT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27861113,27861113,T,C,R019_S,TAOK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37901071,37901071,T,C,R019_S,GRB7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRB7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72477393,72477393,G,A,R019_S,CD300A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD300A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6859897,6859897,G,T,R019_S,ARHGAP28,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ARHGAP28,NM_001366230:exon5:c.726+1G>T;NM_001366231:exon5:c.726+1G>T;NM_001010000:exon4:c.249+1G>T,NA,NA,.,.,D,.,.,.
chr18,56165164,56165164,G,A,R019_S,ALPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,70502513,70502513,C,T,R019_S,NETO1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NETO1,NM_001354021:c.*37G>A;NM_138999:c.*37G>A;NM_001354022:c.*37G>A,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54204605,54204605,C,T,R019_S,MIR520B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR520B,dist=64,NA,NA,NA,NA,NA,NA,NA,NA
chr20,26094635,26094635,A,T,R019_S,NCOR1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,NCOR1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29623955,29623955,G,A,R019_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47628372,47628372,G,A,R019_S,ARFGEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10614856,10614856,G,C,R019_S,TEKT4P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TEKT4P2;TPTE,dist=646262;dist=291331,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11020878,11020878,C,G,R019_S,BAGE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BAGE2;BAGE3;BAGE4;BAGE5,NM_182482:c.*1317G>C;NM_182481:c.*1317G>C;NM_181704:c.*1412G>C;NM_182484:c.*1412G>C,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11020879,11020879,T,G,R019_S,BAGE2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BAGE2;BAGE3;BAGE4;BAGE5,NM_182482:c.*1316A>C;NM_182481:c.*1316A>C;NM_181704:c.*1411A>C;NM_182484:c.*1411A>C,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45970573,45970573,A,G,R019_S,KRTAP10-2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTAP10-2,NM_198693:c.*1T>C,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46011170,46011170,T,C,R019_S,KRTAP10-6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTAP10-6,NM_198688:c.*98A>G,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29818992,29818992,T,C,R019_S,AP1B1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,AP1B1;RFPL1S,dist=34420;dist=14012,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32302190,32302190,G,C,R019_S,DEPDC5,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DEPDC5,NM_014662:exon42:c.4427-1G>C;NM_001363852:exon42:c.4454-1G>C;NM_001363854:exon41:c.4286-1G>C;NM_001364318:exon43:c.4520-1G>C;NM_001136029:exon43:c.4493-1G>C;NM_001369902:exon42:c.4436-1G>C;NM_001242897:exon40:c.4220-1G>C;NM_001364320:exon42:c.4454-1G>C;NM_001242896:exon43:c.4520-1G>C;NM_001364319:exon41:c.4286-1G>C;NM_001369903:exon42:c.4427-1G>C;NM_001369901:exon42:c.4436-1G>C,NA,NA,.,.,D,.,.,.
chrX,48919879,48919879,G,A,R019_S,CCDC120,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC120,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,65176113,65176113,A,C,R019_S,MSN,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MSN;MIR223,dist=214320;dist=62599,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1588745,1588747,GCG,-,P237167_F,CDK11B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1588808,1588808,-,A,P237167_F,CDK11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9633387,9633387,-,T,P237167_F,SLC25A33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15654738,15654738,T,-,P237167_F,LOC101927417,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101927417,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21924565,21924565,G,-,P237167_F,RAP1GAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAP1GAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78432659,78432659,T,-,P237167_F,FUBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,93691856,93691856,T,-,P237167_F,CCDC18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100213031,100213031,A,-,P237167_F,FRRS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRRS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154112163,154112163,C,-,P237167_F,NUP210L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP210L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154242978,154242978,T,-,P237167_F,UBAP2L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UBAP2L,NM_014847:c.*207delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220379362,220379362,A,-,P237167_F,RAB3GAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3GAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224588833,224588833,-,A,P237167_F,WDR26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7130600,7130604,ATATA,-,P237167_F,RNF144A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RNF144A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,9572888,9572888,A,-,P237167_F,CPSF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27592091,27592091,A,-,P237167_F,EIF2B4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38527398,38527399,CT,-,P237167_F,ATL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70519668,70519668,C,-,P237167_F,SNRPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95766554,95766554,A,-,P237167_F,MRPS5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,116535070,116535071,CA,-,P237167_F,DPP10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851369,118851371,TGT,-,P237167_F,INSIG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851755,118851755,-,GAGGAG,P237167_F,INSIG2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136103039,136103039,A,-,P237167_F,ZRANB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZRANB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152990087,152990087,-,A,P237167_F,STAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201686050,201686053,GTTT,-,P237167_F,BZW1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BZW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,224749577,224749577,-,TC,P237167_F,WDFY1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,WDFY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,232457357,232457357,C,-,P237167_F,TEX44,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TEX44,dist=218,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14526686,14526688,ATC,-,P237167_F,SLC6A6,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,SLC6A6,NM_001134367:c.*171_*173delATC;NM_003043:c.*171_*173delATC,NA,NA,NA,NA,NA,NA,NA,NA
chr3,41268677,41268678,AT,-,P237167_F,CTNNB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTNNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48505120,48505121,TC,-,P237167_F,ATRIP-TREX1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ATRIP-TREX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51930730,51930731,CA,-,P237167_F,IQCF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IQCF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,666944,666944,-,T,P237167_F,ATP5ME,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5ME,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,31099260,31099260,-,ATC,P237167_F,PCDH7,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PCDH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,52936207,52936208,TA,-,P237167_F,SPATA18,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPATA18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57176965,57176965,T,-,P237167_F,KIAA1211,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1211,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,85556392,85556392,-,T,P237167_F,CDS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10390340,10390340,-,T,P237167_F,MARCHF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36123066,36123066,A,-,P237167_F,LMBRD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMBRD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37349361,37349361,A,-,P237167_F,NUP155,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137846047,137846053,AAAAAAA,-,P237167_F,ETF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ETF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,12038111,12038111,T,-,P237167_F,HIVEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIVEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43399601,43399601,-,A,P237167_F,ABCC10,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABCC10,NM_033450:c.-247_-246insA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117073906,117073907,TA,-,P237167_F,FAM162B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM162B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117631544,117631544,T,-,P237167_F,ROS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136562824,136562824,A,-,P237167_F,MTFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100424578,100424578,C,-,P237167_F,SLC12A9,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC12A9,NM_001363494:c.-73del-,NA,NA,NA,NA,NA,NA,NA,NA
chr7,108213938,108213938,-,T,P237167_F,DNAJB9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DNAJB9,NM_012328:c.*141_*142insT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129015680,129015680,-,AG,P237167_F,AHCYL2,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,AHCYL2,NM_001130722:c.-31_-30insAG,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148700767,148700767,A,-,P237167_F,PDIA4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PDIA4,NM_001371245:c.*119delT;NM_001371244:c.*119delT;NM_004911:c.*119delT,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38090389,38090391,TTG,-,P237167_F,DDHD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DDHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,94817178,94817178,A,-,P237167_F,TMEM67,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM67,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95507237,95507237,-,T,P237167_F,VIRMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIRMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,98787734,98787734,A,-,P237167_F,LAPTM4B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LAPTM4B,dist=282,NA,NA,NA,NA,NA,NA,NA,NA
chr8,103236415,103236415,T,-,P237167_F,RRM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104922219,104922220,TA,-,P237167_F,RIMS2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110631460,110631460,T,-,P237167_F,SYBU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYBU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,14088141,14088141,T,-,P237167_F,NFIB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NFIB,NM_001190738:c.*167delA;NM_001282787:c.*55delA;NM_005596:c.*167delA;NM_001369474:c.*167delA;NM_001369473:c.*167delA;NM_001369465:c.*167delA;NM_001369462:c.*55delA;NM_001369466:c.*55delA;NM_001369469:c.*55delA;NM_001369476:c.*167delA;NM_001369460:c.*55delA;NM_001369478:c.*167delA;NM_001369472:c.*167delA;NM_001369471:c.*167delA;NM_001369458:c.*55delA;NM_001369470:c.*167delA;NM_001369467:c.*55delA;NM_001369468:c.*167delA;NM_001369480:c.*167delA;NM_001190737:c.*167delA;NM_001369475:c.*55delA;NM_001369477:c.*167delA;NM_001369459:c.*55delA;NM_001369479:c.*55delA;NM_001369461:c.*55delA;NM_001369464:c.*55delA;NM_001369463:c.*99delA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68410007,68410009,CCT,-,P237167_F,LINC00537,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LINC00537,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,97109481,97109481,T,-,P237167_F,LOC100132077,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100132077,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140686493,140686493,T,-,P237167_F,EHMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15060006,15060009,AAAC,-,P237167_F,ACBD7-DCLRE1CP1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ACBD7-DCLRE1CP1;DCLRE1CP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,29162165,29162165,T,-,P237167_F,C10orf126,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C10orf126,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,51093151,51093152,TC,-,P237167_F,PARG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PARG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,61566891,61566891,-,A,P237167_F,CCDC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,74952519,74952519,A,-,P237167_F,FAM149B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM149B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97515949,97515949,G,-,P237167_F,ENTPD1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ENTPD1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,121678942,121678942,T,-,P237167_F,SEC23IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC23IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134237278,134237279,GC,-,P237167_F,PWWP2B,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,PWWP2B;C10orf91,dist=5920;dist=21414,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89665510,89665513,TTTA,-,P237167_F,TRIM49D1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRIM49D1;TRIM49D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18238803,18238809,TGAGCCA,-,P237167_F,RERGL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RERGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,24102701,24102704,TCTC,-,P237167_F,SOX5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SOX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,28459653,28459653,T,-,P237167_F,CCDC91,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69208334,69208334,-,T,P237167_F,MDM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,78594404,78594404,-,A,P237167_F,NAV3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94575163,94575163,A,-,P237167_F,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109194450,109194450,C,-,P237167_F,SSH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111992031,111992031,-,A,P237167_F,ATXN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122962859,122962859,-,A,P237167_F,ZCCHC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123343928,123343928,G,-,P237167_F,HIP1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58599675,58599676,GT,-,P237167_F,ARMH4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARMH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25959623,25959625,ATA,-,P237167_F,ATP10A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,35152611,35152611,A,-,P237167_F,AQR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AQR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42187333,42187333,C,-,P237167_F,LOC105370792,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105370792,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44023811,44023811,T,-,P237167_F,STRCP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,STRCP1;CATSPER2P1,dist=13353;dist=4335,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50557643,50557643,-,A,P237167_F,HDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101113701,101113701,T,-,P237167_F,LINS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LINS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2079854,2079854,C,-,P237167_F,SLC9A3R2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A3R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31405452,31405452,A,-,P237167_F,ITGAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74444233,74444233,-,G,P237167_F,CLEC18B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC18B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88779371,88779371,-,C,P237167_F,CTU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1632055,1632055,-,G,P237167_F,WDR81,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR81,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1942907,1942907,-,GG,P237167_F,DPH1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40259386,40259386,A,-,P237167_F,DHX58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41102791,41102791,-,A,P237167_F,AARSD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AARSD1;PTGES3L-AARSD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42326464,42326465,AA,-,P237167_F,SLC4A1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,SLC4A1,NM_000342:c.*1362_*1361delTT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74082097,74082100,GAAG,-,P237167_F,EXOC7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EXOC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80878412,80878412,-,T,P237167_F,TBCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1775123,1775123,-,CGCC,P237167_F,ONECUT3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ONECUT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12940009,12940009,T,-,P237167_F,RTBDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTBDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21718930,21718935,TTATAT,-,P237167_F,ZNF429,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF429,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39870487,39870487,-,G,P237167_F,SAMD4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMD4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41072893,41072893,-,A,P237167_F,SPTBN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50985356,50985357,CT,-,P237167_F,EMC10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EMC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18414186,18414187,AA,-,P237167_F,DZANK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DZANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29633848,29633853,TGGCAT,-,P237167_F,FRG1BP,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29633854,29633854,-,ATTAA,P237167_F,FRG1BP,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61299716,61299716,G,-,P237167_F,SLCO4A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18165898,18165898,-,A,P237167_F,BCL2L13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL2L13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30793854,30793856,AAG,-,P237167_F,SEC14L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SEC14L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50961981,50961982,CA,-,P237167_F,NCAPH2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,NCAPH2,NM_152299:c.*177_*178delCA;NM_001185011:c.*177_*178delCA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,14039934,14039937,TATA,-,P237167_F,GEMIN8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GEMIN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41075090,41075090,T,-,P237167_F,USP9X,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP9X,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,43599898,43599898,T,-,P237167_F,MAOA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAOA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,44920541,44920541,-,T,P237167_F,KDM6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48775682,48775683,AC,-,P237167_F,PIM2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,65486652,65486655,TTTC,-,P237167_F,HEPH,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,HEPH,NM_138737:c.*138_*141delTTTC;NM_001130860:c.*138_*141delTTTC;NM_001367232:c.*138_*141delTTTC;NM_001282141:c.*138_*141delTTTC;NM_014799:c.*138_*141delTTTC;NM_001367242:c.*138_*141delTTTC;NM_001367241:c.*138_*141delTTTC;NM_001367239:c.*138_*141delTTTC;NM_001367240:c.*138_*141delTTTC;NM_001367238:c.*138_*141delTTTC;NM_001367243:c.*138_*141delTTTC;NM_001367236:c.*138_*141delTTTC;NM_001367233:c.*138_*141delTTTC;NM_001367234:c.*138_*141delTTTC,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69898743,69898743,A,-,P237167_F,TEX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110416183,110416184,TC,-,P237167_F,PAK3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PAK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118770953,118770957,GCTGG,-,P237167_F,SEPTIN6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SEPTIN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,123234733,123234733,-,A,P237167_F,STAG2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STAG2,NM_001042749:c.*286_*287insA;NM_001282418:c.*286_*287insA;NM_001042750:c.*286_*287insA;NM_001042751:c.*286_*287insA;NM_006603:c.*286_*287insA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10001265,10001265,-,T,P237167_S,LZIC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LZIC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21503168,21503168,-,G,P237167_S,EIF4G3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4G3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,85563445,85563445,A,-,P237167_S,WDR63,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109643286,109643288,CGG,-,P237167_S,SCARNA2,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,SCARNA2,dist=52,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852509,144852513,AACAT,-,P237167_S,LOC100996724,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150199259,150199259,T,-,P237167_S,ANP32E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANP32E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155151344,155151344,G,-,P237167_S,TRIM46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159912534,159912535,GT,-,P237167_S,IGSF9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IGSF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186105744,186105744,A,-,P237167_S,HMCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27592091,27592091,A,-,P237167_S,EIF2B4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,33764142,33764142,T,-,P237167_S,RASGRP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGRP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37104946,37104946,-,G,P237167_S,STRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,186689258,186689258,-,T,P237167_S,FSIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201686050,201686053,GTTT,-,P237167_S,BZW1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BZW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10334449,10334449,A,-,P237167_S,GHRLOS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GHRLOS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,23942671,23942673,TTT,-,P237167_S,NKIRAS1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NKIRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47860686,47860686,T,-,P237167_S,DHX30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48505120,48505121,TC,-,P237167_S,ATRIP-TREX1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ATRIP-TREX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51474897,51474897,G,-,P237167_S,DCAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58296417,58296417,-,G,P237167_S,HTD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTD2;RPP14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,101575878,101575878,T,-,P237167_S,NFKBIZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFKBIZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130365174,130365174,-,T,P237167_S,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132179281,132179281,T,-,P237167_S,DNAJC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,136710642,136710643,GT,-,P237167_S,IL20RB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IL20RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184907504,184907507,TTTT,-,P237167_S,EHHADH-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,EHHADH-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3137575,3137578,GTAA,-,P237167_S,HTT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HTT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,62937356,62937356,A,-,P237167_S,ADGRL3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADGRL3,NM_001322246:c.*1469delA;NM_001371343:c.*730delA;NM_001371344:c.*730delA;NM_001322402:c.*730delA;NM_001371346:c.*730delA;NM_001371345:c.*730delA;NM_015236:c.*730delA;NM_001371342:c.*730delA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78085414,78085414,-,T,P237167_S,CCNG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,144130643,144130643,A,-,P237167_S,USP38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14293092,14293092,-,T,P237167_S,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34822965,34822968,TTTT,-,P237167_S,RAI14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RAI14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55252984,55252984,-,A,P237167_S,IL6ST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL6ST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,69730714,69730714,-,T,P237167_S,GTF2H2B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GTF2H2B;GUSBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127728706,127728707,AC,-,P237167_S,FBN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137454408,137454408,-,T,P237167_S,NME5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140795308,140795317,TTTTTTTTTT,-,P237167_S,PCDHGA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PCDHGA1;PCDHGA10;PCDHGA2;PCDHGA3;PCDHGA4;PCDHGA5;PCDHGA6;PCDHGA7;PCDHGA8;PCDHGA9;PCDHGB1;PCDHGB2;PCDHGB3;PCDHGB4;PCDHGB5;PCDHGB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145665355,145665355,T,-,P237167_S,RBM27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,153726930,153726930,T,-,P237167_S,GALNT10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,7295475,7295478,TTAA,-,P237167_S,SSR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26096585,26096586,CT,-,P237167_S,HFE,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,HFE,NM_139007:c.*2131_*2132delCT;NM_139009:c.*2131_*2132delCT;NM_139003:c.*2131_*2132delCT;NM_139004:c.*2131_*2132delCT;NM_139006:c.*2131_*2132delCT;NM_139008:c.*2131_*2132delCT;NM_139011:c.*2131_*2132delCT;NM_139010:c.*2131_*2132delCT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26096597,26096597,-,AG,P237167_S,HFE,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,HFE,NM_139007:c.*2143_*2144insAG;NM_139009:c.*2143_*2144insAG;NM_139003:c.*2143_*2144insAG;NM_139004:c.*2143_*2144insAG;NM_139006:c.*2143_*2144insAG;NM_139008:c.*2143_*2144insAG;NM_139011:c.*2143_*2144insAG;NM_139010:c.*2143_*2144insAG,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111685194,111685195,AC,-,P237167_S,REV3L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,REV3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161139247,161139247,-,C,P237167_S,PLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21516628,21516628,T,-,P237167_S,SP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92875396,92875397,TT,-,P237167_S,VPS50,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VPS50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100333174,100333174,A,-,P237167_S,ZAN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100478764,100478764,G,-,P237167_S,SRRT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103824724,103824724,-,A,P237167_S,ORC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,108213938,108213938,-,T,P237167_S,DNAJB9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DNAJB9,NM_012328:c.*141_*142insT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129015680,129015680,-,AG,P237167_S,AHCYL2,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,AHCYL2,NM_001130722:c.-31_-30insAG,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148700767,148700767,A,-,P237167_S,PDIA4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PDIA4,NM_001371245:c.*119delT;NM_001371244:c.*119delT;NM_004911:c.*119delT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,158055792,158055794,CTG,-,P237167_S,PTPRN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39332896,39332896,A,-,P237167_S,ADAM3A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ADAM3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,71506691,71506691,A,-,P237167_S,TRAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,72946623,72946624,AA,-,P237167_S,MSC-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,MSC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,14088141,14088141,T,-,P237167_S,NFIB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NFIB,NM_001190738:c.*167delA;NM_001282787:c.*55delA;NM_005596:c.*167delA;NM_001369474:c.*167delA;NM_001369473:c.*167delA;NM_001369465:c.*167delA;NM_001369462:c.*55delA;NM_001369466:c.*55delA;NM_001369469:c.*55delA;NM_001369476:c.*167delA;NM_001369460:c.*55delA;NM_001369478:c.*167delA;NM_001369472:c.*167delA;NM_001369471:c.*167delA;NM_001369458:c.*55delA;NM_001369470:c.*167delA;NM_001369467:c.*55delA;NM_001369468:c.*167delA;NM_001369480:c.*167delA;NM_001190737:c.*167delA;NM_001369475:c.*55delA;NM_001369477:c.*167delA;NM_001369459:c.*55delA;NM_001369479:c.*55delA;NM_001369461:c.*55delA;NM_001369464:c.*55delA;NM_001369463:c.*99delA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127495648,127495648,A,-,P237167_S,NR6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70980320,70980320,A,-,P237167_S,LOC101928994,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928994,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97515949,97515949,G,-,P237167_S,ENTPD1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,ENTPD1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98312908,98312908,A,-,P237167_S,TM9SF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM9SF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103542191,103542193,CAC,-,P237167_S,NPM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NPM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118396277,118396277,G,-,P237167_S,PNLIPRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNLIPRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,16824329,16824329,-,GG,P237167_S,PLEKHA7,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PLEKHA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,34981923,34981926,GTAA,-,P237167_S,PDHX,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDHX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,48177275,48177275,-,T,P237167_S,PTPRJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,100064486,100064486,A,-,P237167_S,CNTN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124622194,124622194,A,-,P237167_S,VSIG2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,VSIG2;ESAM,dist=43;dist=829,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3600692,3600692,T,-,P237167_S,THCAT155,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,THCAT155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113545420,113545420,-,C,P237167_S,RASAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120190060,120190061,AG,-,P237167_S,CIT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CIT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120741278,120741278,A,-,P237167_S,SIRT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122251800,122251803,GAAT,-,P237167_S,SETD1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SETD1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122861790,122861790,-,AG,P237167_S,CLIP1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CLIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,78235507,78235507,-,G,P237167_S,LOC100129307,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,LOC100129307,dist=2,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95050576,95050576,T,-,P237167_S,GPC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21816469,21816469,-,T,P237167_S,RPGRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPGRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76352963,76352963,T,-,P237167_S,TTLL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104380989,104380989,-,A,P237167_S,ATP5MPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5MPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66735473,66735473,-,G,P237167_S,MAP2K1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,281437,281439,AAG,-,P237167_S,LUC7L,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LUC7L;FAM234A,dist=1956;dist=3381,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2079854,2079854,C,-,P237167_S,SLC9A3R2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A3R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4163683,4163683,-,T,P237167_S,ADCY9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55866894,55866894,-,A,P237167_S,CES1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CES1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9479807,9479807,-,A,P237167_S,CFAP52,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CFAP52;STX8,dist=152,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20254235,20254235,T,-,P237167_S,CCDC144CP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCDC144CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29096087,29096087,T,-,P237167_S,SUZ12P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SUZ12P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48826250,48826250,A,-,P237167_S,LUC7L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LUC7L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74082097,74082100,GAAG,-,P237167_S,EXOC7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EXOC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3814326,3814326,T,-,P237167_S,DLGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10291323,10291325,TCA,-,P237167_S,DNMT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10897399,10897401,CCA,-,P237167_S,DNM2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,20026069,20026070,TG,-,P237167_S,ZNF93,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF93,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25755945,25755945,A,-,P237167_S,FAM182B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FAM182B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29628390,29628390,T,-,P237167_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29633848,29633853,TGGCAT,-,P237167_S,FRG1BP,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29633854,29633854,-,ATTAA,P237167_S,FRG1BP,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34050462,34050463,AG,-,P237167_S,CEP250,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CEP250,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35835477,35835477,A,-,P237167_S,RPN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,31003075,31003076,TG,-,P237167_S,GRIK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRIK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37425989,37425989,A,-,P237167_S,SETD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18165898,18165898,-,A,P237167_S,BCL2L13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL2L13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20905497,20905498,CT,-,P237167_S,MED15,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MED15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30793854,30793856,AAG,-,P237167_S,SEC14L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SEC14L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32156425,32156425,-,AG,P237167_S,DEPDC5,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DEPDC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50169478,50169481,CCCA,-,P237167_S,BRD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,44386445,44386445,A,-,P237167_S,FUNDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUNDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,65486652,65486655,TTTC,-,P237167_S,HEPH,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,HEPH,NM_138737:c.*138_*141delTTTC;NM_001130860:c.*138_*141delTTTC;NM_001367232:c.*138_*141delTTTC;NM_001282141:c.*138_*141delTTTC;NM_014799:c.*138_*141delTTTC;NM_001367242:c.*138_*141delTTTC;NM_001367241:c.*138_*141delTTTC;NM_001367239:c.*138_*141delTTTC;NM_001367240:c.*138_*141delTTTC;NM_001367238:c.*138_*141delTTTC;NM_001367243:c.*138_*141delTTTC;NM_001367236:c.*138_*141delTTTC;NM_001367233:c.*138_*141delTTTC;NM_001367234:c.*138_*141delTTTC,NA,NA,NA,NA,NA,NA,NA,NA
chrX,135767764,135767766,AAA,-,P237167_S,ARHGEF6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGEF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17270845,17270845,-,G,P238571_F,CROCC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CROCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20654731,20654731,G,-,P238571_F,VWA5B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA5B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,42647536,42647536,-,CA,P238571_F,FOXJ3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FOXJ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,63912545,63912545,-,T,P238571_F,ITGB3BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB3BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67487394,67487395,AG,-,P238571_F,SLC35D1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC35D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148009715,148009715,-,GA,P238571_F,LOC100996740,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160122818,160122818,-,A,P238571_F,ATP1A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP1A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226549886,226549886,T,-,P238571_F,PARP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236749452,236749452,A,-,P238571_F,HEATR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1890246,1890246,-,T,P238571_F,MYT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,25043917,25043917,C,-,P238571_F,CENPO,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CENPO,NM_024322:c.*1730delC;NM_001199803:c.*1730delC;NM_001322101:c.*1730delC,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26500102,26500102,T,-,P238571_F,HADHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HADHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118851755,118851755,-,GAGGAG,P238571_F,INSIG2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,175991969,175991969,-,A,P238571_F,ATF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,228109625,228109625,-,TG,P238571_F,LOC654841,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC654841,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231940296,231940296,T,-,P238571_F,PSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9743208,9743208,-,A,P238571_F,MTMR14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9767360,9767360,-,TA,P238571_F,CPNE9,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CPNE9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27478842,27478842,-,A,P238571_F,SLC4A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,35724257,35724258,TC,-,P238571_F,ARPP21,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARPP21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47361082,47361082,G,-,P238571_F,KLHL18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,71007272,71007272,-,T,P238571_F,FOXP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FOXP1,NM_001244813:c.*1125_*1126insA;NM_001244812:c.*1125_*1126insA;NM_001244808:c.*1125_*1126insA;NM_001349342:c.*1125_*1126insA;NM_001349341:c.*1125_*1126insA;NM_001349343:c.*1125_*1126insA;NM_001349344:c.*1125_*1126insA;NM_001349340:c.*1125_*1126insA;NM_001244814:c.*1125_*1126insA;NM_001349338:c.*1125_*1126insA;NM_001244815:c.*1125_*1126insA;NM_001349337:c.*1125_*1126insA;NM_001370548:c.*1125_*1126insA;NM_001244810:c.*1125_*1126insA;NM_032682:c.*1125_*1126insA;NM_001244816:c.*1125_*1126insA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,96728829,96728829,-,T,P238571_F,EPHA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108304753,108304754,AC,-,P238571_F,CIP2A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CIP2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108541932,108541933,AT,-,P238571_F,TRAT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113516986,113516986,A,-,P238571_F,ATP6V1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,140678385,140678385,A,-,P238571_F,SLC25A36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151093758,151093758,-,ATATATATATAT,P238571_F,MED12L,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MED12L;P2RY12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170844017,170844017,A,-,P238571_F,TNIK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183639437,183639437,A,-,P238571_F,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186509258,186509258,-,A,P238571_F,RFC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196876426,196876426,A,-,P238571_F,DLG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,27000815,27000816,AT,-,P238571_F,STIM2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,31129769,31129770,AC,-,P238571_F,PCDH7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PCDH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,106359200,106359200,T,-,P238571_F,PPA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,147628706,147628706,A,-,P238571_F,TTC29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,151835503,151835503,A,-,P238571_F,LRBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32296751,32296751,-,A,P238571_F,MTMR12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,40730503,40730503,A,-,P238571_F,TTC33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,41069953,41069954,CT,-,P238571_F,MROH2B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MROH2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,110284912,110284912,-,T,P238571_F,SLC25A46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC25A46;TSLP,dist=184056;dist=122499,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112111309,112111309,-,A,P238571_F,APC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,25557148,25557148,-,A,P238571_F,CARMIL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARMIL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35706064,35706064,G,-,P238571_F,ARMC12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109761353,109761354,GT,-,P238571_F,PPIL6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PPIL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135286439,135286439,A,-,P238571_F,HBS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HBS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73668050,73668050,A,-,P238571_F,RFC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,77234110,77234111,AT,-,P238571_F,PTPN12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,7191540,7191541,CA,-,P238571_F,FAM66B,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FAM66B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,23292045,23292046,CA,-,P238571_F,ENTPD4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ENTPD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,66695082,66695082,-,A,P238571_F,PDE7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,117867375,117867375,A,-,P238571_F,RAD21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,74972050,74972050,G,-,P238571_F,ZFAND5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFAND5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124094978,124094979,GT,-,P238571_F,GSN,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,GSN,NM_001353053:c.*97_*98delGT;NM_001353054:c.*97_*98delGT;NM_001127662:c.*97_*98delGT;NM_001127663:c.*97_*98delGT;NM_001127664:c.*97_*98delGT;NM_001127665:c.*97_*98delGT;NM_001127666:c.*97_*98delGT;NM_001127667:c.*97_*98delGT;NM_001353055:c.*97_*98delGT;NM_001353056:c.*97_*98delGT;NM_001353057:c.*97_*98delGT;NM_001353058:c.*97_*98delGT;NM_001353059:c.*97_*98delGT;NM_001353060:c.*97_*98delGT;NM_001353061:c.*97_*98delGT;NM_001353063:c.*97_*98delGT;NM_001353064:c.*97_*98delGT;NM_001353065:c.*97_*98delGT;NM_001353066:c.*97_*98delGT;NM_001353067:c.*97_*98delGT;NM_001353068:c.*97_*98delGT;NM_001353069:c.*97_*98delGT;NM_001353070:c.*97_*98delGT;NM_001353071:c.*97_*98delGT;NM_001353072:c.*97_*98delGT;NM_001353073:c.*97_*98delGT;NM_001353074:c.*97_*98delGT;NM_001353076:c.*97_*98delGT;NM_001353078:c.*97_*98delGT;NM_198252:c.*97_*98delGT;NM_001353062:c.*97_*98delGT;NM_001258029:c.*97_*98delGT;NM_001258030:c.*97_*98delGT;NM_001353075:c.*97_*98delGT;NM_001353077:c.*97_*98delGT;NM_000177:c.*97_*98delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134382457,134382457,-,A,P238571_F,POMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,17365229,17365230,CA,-,P238571_F,ST8SIA6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ST8SIA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,68381350,68381350,A,-,P238571_F,CTNNA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70266206,70266206,-,A,P238571_F,SLC25A16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,77312184,77312184,C,-,P238571_F,LRMDA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRMDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104449606,104449606,-,AT,P238571_F,ARL3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ARL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105133394,105133395,GT,-,P238571_F,TAF5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TAF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123310734,123310734,A,-,P238571_F,FGFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135088633,135088633,-,C,P238571_F,ADAM8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,320390,320391,CA,-,P238571_F,IFITM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IFITM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4880850,4880850,T,-,P238571_F,OR51H1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OR51H1,NM_001348291:c.*36delA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108058770,108058770,T,-,P238571_F,NPAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111659474,111659474,C,-,P238571_F,ALG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117054355,117054355,A,-,P238571_F,SIDT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIDT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118884009,118884009,-,T,P238571_F,CCDC84,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6640675,6640675,-,A,P238571_F,NCAPD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NCAPD2,NM_014865:c.*97_*98insA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31595978,31595978,-,TG,P238571_F,DENND5B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DENND5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57038362,57038362,-,A,P238571_F,ATP5F1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5F1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,97082818,97082818,A,-,P238571_F,CFAP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105432020,105432021,TC,-,P238571_F,ALDH1L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ALDH1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,106722855,106722855,A,-,P238571_F,TCP11L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCP11L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133258000,133258004,GCTCA,-,P238571_F,POLE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,POLE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50094899,50094899,-,A,P238571_F,PHF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF11;SETDB2-PHF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,51953793,51953793,-,A,P238571_F,INTS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,77780724,77780724,-,A,P238571_F,MYCBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYCBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111158654,111158655,CT,-,P238571_F,COL4A2-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,COL4A2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113527869,113527869,T,-,P238571_F,ATP11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35072491,35072491,-,A,P238571_F,SNX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35255305,35255305,-,A,P238571_F,BAZ1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAZ1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75471393,75471397,TTTTT,-,P238571_F,EIF2B2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EIF2B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88429917,88429917,A,-,P238571_F,GALC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101013101,101013104,GCGC,-,P238571_F,BEGAIN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BEGAIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105452221,105452221,-,GCGGGGCCCGGGCCCGGGCCCAGGACAC,P238571_F,CLBA1,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,CLBA1,NM_174891:c.-548_-547insGCGGGGCCCGGGCCCGGGCCCAGGACAC,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23299146,23299146,-,A,P238571_F,HERC2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HERC2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41350750,41350751,TG,-,P238571_F,INO80,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INO80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42837040,42837040,-,TA,P238571_F,LRRC57,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LRRC57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1031300,1031313,GTGTGAGAGAGAGA,-,P238571_F,LMF1,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,LMF1,NM_001352019:c.-26768_-26781delTCTCTCTCTCACAC;NM_001352018:c.-47195_-47208delTCTCTCTCTCACAC;NM_001352017:c.-70358_-70371delTCTCTCTCTCACAC,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10855522,10855522,T,-,P238571_F,NUBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,18895552,18895552,-,A,P238571_F,SMG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56535194,56535194,A,-,P238571_F,BBS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68155860,68155860,-,T,P238571_F,NFATC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFATC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70390854,70390854,A,-,P238571_F,DDX19A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX19A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71841764,71841764,-,A,P238571_F,AP1G1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP1G1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1387335,1387335,A,-,P238571_F,MYO1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,11550595,11550596,TT,-,P238571_F,DNAH9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNAH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12920062,12920062,-,A,P238571_F,ELAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15907085,15907086,AT,-,P238571_F,TTC19,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16056615,16056615,A,-,P238571_F,NCOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35979747,35979747,A,-,P238571_F,DDX52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39522911,39522911,A,-,P238571_F,KRT33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44388502,44388502,-,A,P238571_F,ARL17B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL17B;LRRC37A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44627767,44627767,-,T,P238571_F,ARL17A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL17A;ARL17B;LRRC37A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,59858090,59858092,AAC,-,P238571_F,BRIP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61489969,61489969,T,-,P238571_F,TANC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TANC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12986802,12986802,-,T,P238571_F,SEH1L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEH1L,NM_031216:c.*1551_*1552insT,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29852591,29852591,T,-,P238571_F,GAREM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAREM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,33048413,33048413,A,-,P238571_F,INO80C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,INO80C,NM_001308064:c.*162delT;NM_001098817:c.*162delT;NM_194281:c.*162delT,NA,NA,NA,NA,NA,NA,NA,NA
chr18,54283363,54283363,A,-,P238571_F,TXNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61223358,61223358,T,-,P238571_F,SERPINB12,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SERPINB12,dist=35,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14267365,14267366,GT,-,P238571_F,LOC100507373,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC100507373,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37155496,37155496,A,-,P238571_F,ZNF461,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF461,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41219781,41219781,-,A,P238571_F,COQ8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41938395,41938396,GT,-,P238571_F,DMAC2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,DMAC2,NM_001320844:c.*778_*777delAC;NM_001320839:c.*778_*777delAC,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44006609,44006609,-,TT,P238571_F,PHLDB3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PHLDB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58361657,58361658,AA,-,P238571_F,ZNF587,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF587,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29624034,29624034,-,G,P238571_F,FRG1DP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_splicing,FRG1DP,NR_132316:exon4:c.260-1->G,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33972467,33972467,G,-,P238571_F,UQCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UQCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50233718,50233720,TGA,-,P238571_F,ATP9A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52611427,52611427,-,ACACACAC,P238571_F,BCAS1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,BCAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,36206316,36206317,GT,-,P238571_F,RUNX1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RUNX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,22994697,22994697,-,GCTGAG,P238571_F,GGTLC2,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,GGTLC2;MIR650,dist=4329;dist=170573,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35659293,35659293,-,T,P238571_F,HMGXB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGXB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38164813,38164813,-,A,P238571_F,TRIOBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIOBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50318779,50318779,A,-,P238571_F,CRELD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRELD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,7023887,7023887,A,-,P238571_F,PUDP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUDP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,111000722,111000722,T,-,P238571_F,ALG13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129536208,129536208,-,C,P238571_F,RBMX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBMX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153672551,153672553,CCG,-,P238571_F,FAM50A,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,FAM50A,NM_004699:c.-32_-30del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16362006,16362009,CCCT,-,P238571_S,CLCNKA,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,CLCNKA;CLCNKB,dist=1461;dist=8222,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19441694,19441695,CA,-,P238571_S,UBR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20654731,20654731,G,-,P238571_S,VWA5B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA5B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25679278,25679278,-,T,P238571_S,TMEM50A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM50A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,63912545,63912545,-,T,P238571_S,ITGB3BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB3BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89485923,89485923,-,A,P238571_S,GBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,95615749,95615749,T,-,P238571_S,TLCD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLCD4;TLCD4-RWDD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113196203,113196203,C,-,P238571_S,CAPZA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPZA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155702025,155702025,T,-,P238571_S,DAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,175087684,175087684,T,-,P238571_S,TNN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,185144334,185144334,-,T,P238571_S,SWT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SWT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201019880,201019880,-,A,P238571_S,CACNA1S,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1S,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236749452,236749452,A,-,P238571_S,HEATR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,15319337,15319338,GT,-,P238571_S,NBAS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NBAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32366959,32366959,-,T,P238571_S,SPAST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69688631,69688631,-,A,P238571_S,AAK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AAK1,NM_014911:c.*14369_*14370insT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80136694,80136695,TG,-,P238571_S,CTNNA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86385683,86385683,-,A,P238571_S,IMMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95488913,95488919,TTTGTAT,-,P238571_S,ANKRD20A8P,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ANKRD20A8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,100081462,100081462,A,-,P238571_S,REV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,131888362,131888362,T,-,P238571_S,PLEKHB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153589023,153589023,-,T,P238571_S,ARL6IP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL6IP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45042935,45042935,A,-,P238571_S,EXOSC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,96728829,96728829,-,T,P238571_S,EPHA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108541932,108541933,AT,-,P238571_S,TRAT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113222100,113222100,A,-,P238571_S,SPICE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPICE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122525556,122525556,T,-,P238571_S,SLC49A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC49A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142051517,142051517,A,-,P238571_S,XRN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142099030,142099030,-,A,P238571_S,XRN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186509258,186509258,-,A,P238571_S,RFC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,187896883,187896884,AG,-,P238571_S,FLJ42393,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,FLJ42393,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20555359,20555360,TG,-,P238571_S,SLIT2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113468378,113468379,AC,-,P238571_S,ZGRF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZGRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,50040550,50040550,T,-,P238571_S,PARP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68667027,68667027,-,T,P238571_S,RAD17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94842719,94842719,A,-,P238571_S,TTC37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,110284912,110284912,-,T,P238571_S,SLC25A46,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC25A46;TSLP,dist=184056;dist=122499,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112145693,112145693,A,-,P238571_S,APC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,115808552,115808552,A,-,P238571_S,SEMA6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,118576097,118576097,T,-,P238571_S,DMXL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMXL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179755188,179755195,CCACAGGC,-,P238571_S,GFPT2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GFPT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180424090,180424091,GA,-,P238571_S,BTNL3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BTNL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,28197639,28197639,T,-,P238571_S,ZSCAN9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56989203,56989204,CT,-,P238571_S,ZNF451-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ZNF451-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109761353,109761354,GT,-,P238571_S,PPIL6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PPIL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,125550033,125550033,T,-,P238571_S,TPD52L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPD52L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,151917439,151917439,A,-,P238571_S,CCDC170,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC170,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92875396,92875396,T,-,P238571_S,VPS50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95457193,95457193,-,T,P238571_S,DYNC1I1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1I1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104376955,104376956,CA,-,P238571_S,LHFPL3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LHFPL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104681591,104681591,-,A,P238571_S,KMT2E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123332379,123332379,A,-,P238571_S,WASL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,125588527,125588538,AAGAAAGAAAGA,-,P238571_S,LOC101928283,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC101928283;GRM8,dist=569152;dist=490114,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143079196,143079202,GCGCCCT,-,P238571_S,FAM131B,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,FAM131B,NM_001371250:c.-22010_-22016delAGGGCGC,NA,NA,NA,NA,NA,NA,NA,NA
chr8,23292045,23292046,CA,-,P238571_S,ENTPD4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ENTPD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,52361494,52361494,T,-,P238571_S,PXDNL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXDNL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100844487,100844487,-,A,P238571_S,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124382377,124382377,A,-,P238571_S,ATAD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,126095505,126095505,-,A,P238571_S,WASHC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASHC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68438727,68438728,AC,-,P238571_S,FRG1JP,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FRG1JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101796869,101796869,A,-,P238571_S,COL15A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL15A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124534840,124534842,TTC,-,P238571_S,DAB2IP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DAB2IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103602943,103602944,CA,-,P238571_S,KCNIP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KCNIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118424916,118424916,A,-,P238571_S,C10orf82,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C10orf82,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,36514055,36514055,T,-,P238571_S,TRAF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62345059,62345059,A,-,P238571_S,TUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,93468325,93468337,GGGTTGCAAAAGA,-,P238571_S,SNORA40,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,SNORA40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111943608,111943608,-,A,P238571_S,PIH1D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIH1D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118768467,118768467,T,-,P238571_S,BCL9L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BCL9L;CXCR5,NM_182557:c.*657delA;NM_001716:c.*3095delT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8084184,8084184,T,-,P238571_S,SLC2A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10010007,10010008,GT,-,P238571_S,CLEC2B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLEC2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56096601,56096602,AC,-,P238571_S,ITGA7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITGA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81671195,81671195,T,-,P238571_S,PPFIA2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PPFIA2,NM_001282536:exon25:c.2754-2A>-;NM_001220477:exon24:c.2910-2A>-;NM_003625:exon28:c.3213-2A>-;NM_001220479:exon16:c.1821-2A>-;NM_001220473:exon27:c.3213-2A>-;NM_001220476:exon27:c.3195-2A>-;NM_001220475:exon26:c.3150-2A>-;NM_001220480:exon17:c.771-2A>-;NM_001220478:exon24:c.2898-2A>-;NM_001220474:exon27:c.3168-2A>-,NA,NA,NA,NA,NA,NA,NA,NA
chr12,85285921,85285921,A,-,P238571_S,SLC6A15,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC6A15,NM_182767:c.-22delT;NM_018057:c.-22delT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,89995054,89995054,A,-,P238571_S,ATP2B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105432020,105432021,TC,-,P238571_S,ALDH1L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ALDH1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111351964,111351965,AC,-,P238571_S,MYL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133297241,133297242,TC,-,P238571_S,PGAM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PGAM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50094899,50094899,-,A,P238571_S,PHF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF11;SETDB2-PHF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,101936112,101936112,A,-,P238571_S,NALCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NALCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23420901,23420902,GA,-,P238571_S,LOC101926933,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC101926933,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23586457,23586457,-,AC,P238571_S,CEBPE,3'Flank,NA,NA,NA,NA,INS,SNVindel,downstream,CEBPE,dist=58,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23738921,23738921,A,-,P238571_S,RNF212B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF212B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,90358701,90358701,G,-,P238571_S,EFCAB11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,28491744,28491744,-,A,P238571_S,HERC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50782435,50782435,T,-,P238571_S,USP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65947046,65947046,T,-,P238571_S,SLC24A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC24A1,NM_004727:c.*629delT;NM_001301031:c.*629delT;NM_001301032:c.*629delT;NM_001254740:c.*629delT,NA,NA,NA,NA,NA,NA,NA,NA
chr15,101595032,101595032,A,-,P238571_S,LRRK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2802746,2802758,CGGCGAGGCGAGG,-,P238571_S,SRRM2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,SRRM2,NM_016333:c.-3620_-3608del-,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14700252,14700252,G,-,P238571_S,PARN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14726345,14726345,A,-,P238571_S,BFAR,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,BFAR,dist=463,NA,NA,NA,NA,NA,NA,NA,NA
chr16,46708574,46708574,-,A,P238571_S,VPS35,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,VPS35,NM_018206:exon9:c.915-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,46843486,46843486,-,A,P238571_S,C16orf87,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf87,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57849704,57849705,AC,-,P238571_S,LOC388282,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LOC388282,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68119790,68119791,TG,-,P238571_S,NFATC3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NFATC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70390854,70390854,A,-,P238571_S,DDX19A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX19A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,11550595,11550596,TT,-,P238571_S,DNAH9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNAH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30538051,30538051,T,-,P238571_S,RHOT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48940257,48940257,A,-,P238571_S,TOB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TOB1,NM_001243877:c.*84delT;NM_005749:c.*84delT;NM_001243885:c.*84delT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62968541,62968541,-,AC,P238571_S,AMZ2P1,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,AMZ2P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,64221995,64221995,A,-,P238571_S,APOH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,5960037,5960042,ACACAC,-,P238571_S,L3MBTL4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,L3MBTL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,60493391,60493391,-,T,P238571_S,PHLPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5285986,5285987,CA,-,P238571_S,PTPRS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6735980,6735980,-,A,P238571_S,GPR108,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR108,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11517667,11517667,T,-,P238571_S,RGL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37118584,37118585,AC,-,P238571_S,ZNF382,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ZNF382,NM_032825:c.*132_*133delAC;NM_001256838:c.*132_*133delAC,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46191995,46191995,T,-,P238571_S,SNRPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50368859,50368860,TT,-,P238571_S,PNKP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PNKP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58090099,58090099,-,G,P238571_S,ZNF416,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF416,NM_001353405:c.-5045_-5044insC;NM_017879:c.-28_-27insC,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2686431,2686431,-,CACACACA,P238571_S,EBF4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EBF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29633848,29633853,TGGCAT,-,P238571_S,FRG1BP,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29633854,29633854,-,ATTAA,P238571_S,FRG1BP,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29992547,29992548,AC,-,P238571_S,DEFB121,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,DEFB121,dist=100,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50233718,50233720,TGA,-,P238571_S,ATP9A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52611427,52611427,-,ACACACAC,P238571_S,BCAS1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,BCAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34799085,34799086,TA,-,P238571_S,IFNGR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IFNGR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38495269,38495269,-,TGA,P238571_S,TTC3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TTC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47720794,47720794,A,-,P238571_S,C21orf58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C21orf58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31849363,31849363,T,-,P238571_S,EIF4ENIF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4ENIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32784195,32784195,-,T,P238571_S,RTCB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTCB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45828138,45828138,T,-,P238571_S,RIBC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIBC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,5909291,5909291,T,-,P238571_S,NLGN4X,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLGN4X,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,38157523,38157523,A,-,P238571_S,RPGR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69459381,69459381,C,-,P238571_S,AWAT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AWAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,84525287,84525287,T,-,P238571_S,ZNF711,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF711,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153715750,153715750,-,A,P238571_S,SLC10A3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC10A3,NM_019848:c.*95_*96insT;NM_001142392:c.*95_*96insT;NM_001142391:c.*95_*96insT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11740287,11740288,AG,-,P243757_F,MAD2L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAD2L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17964234,17964234,-,AG,P243757_F,ARHGEF10L,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ARHGEF10L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40758422,40758422,T,-,P243757_F,ZMPSTE24,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZMPSTE24,NM_005857:c.*81delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55604693,55604693,A,-,P243757_F,USP24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115438048,115438048,T,-,P243757_F,SYCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148009847,148009847,A,-,P243757_F,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150203985,150203985,T,-,P243757_F,ANP32E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANP32E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155988253,155988253,T,-,P243757_F,SSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,166838514,166838514,A,-,P243757_F,TADA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TADA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167817521,167817521,-,CA,P243757_F,ADCY10,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ADCY10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168161498,168161498,-,TG,P243757_F,TIPRL,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,TIPRL,NM_001031800:c.*32_*33insTG,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207520786,207520786,C,-,P243757_F,CD55,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220789356,220789356,T,-,P243757_F,MARK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229662902,229662903,AA,-,P243757_F,ABCB10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABCB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1491489,1491492,AGAA,-,P243757_F,TPO,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26176790,26176790,-,C,P243757_F,KIF3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27716068,27716068,-,A,P243757_F,FNDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27716113,27716114,AG,-,P243757_F,FNDC4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FNDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37104946,37104946,-,G,P243757_F,STRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39251375,39251375,-,CAC,P243757_F,SOS1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SOS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43768233,43768233,-,A,P243757_F,THADA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THADA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,64195998,64195998,A,-,P243757_F,VPS54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97355341,97355341,G,-,P243757_F,FER1L5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FER1L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,148676274,148676277,CAGT,-,P243757_F,ACVR2A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ACVR2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,173344250,173344250,T,-,P243757_F,ITGA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,187709405,187709405,-,A,P243757_F,ZSWIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSWIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191788623,191788623,-,T,P243757_F,GLS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220082340,220082340,-,G,P243757_F,ABCB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231741430,231741430,-,C,P243757_F,ITM2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITM2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,20193806,20193806,T,-,P243757_F,KAT2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KAT2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130365174,130365174,-,T,P243757_F,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,191074797,191074797,A,-,P243757_F,CCDC50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,666944,666944,-,T,P243757_F,ATP5ME,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5ME,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99055730,99055730,-,TAA,P243757_F,STPG2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,STPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,104066177,104066177,A,-,P243757_F,CENPE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,24509583,24509583,-,AG,P243757_F,CDH10,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CDH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43294014,43294014,G,-,P243757_F,HMGCS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGCS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132405932,132405932,T,-,P243757_F,HSPA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137451461,137451461,A,-,P243757_F,NME5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145888687,145888687,-,T,P243757_F,TCERG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCERG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10830633,10830633,-,GG,P243757_F,MAK,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MAK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10830689,10830689,-,C,P243757_F,MAK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36700197,36700197,G,-,P243757_F,RAB44,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RAB44,NM_001257357:c.*327delG,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51934216,51934216,G,-,P243757_F,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,79656601,79656601,A,-,P243757_F,PHIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105228157,105228158,AC,-,P243757_F,HACE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HACE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135523740,135523741,AG,-,P243757_F,MYB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,139598062,139598062,A,-,P243757_F,TXLNB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXLNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,159166782,159166782,-,A,P243757_F,SYTL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYTL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161139247,161139247,-,C,P243757_F,PLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,18300113,18300115,TTG,-,P243757_F,HDAC9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HDAC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,18300118,18300118,-,A,P243757_F,HDAC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,91991360,91991361,GG,-,P243757_F,ANKIB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANKIB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100212387,100212387,A,-,P243757_F,MOSPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOSPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123267048,123267048,-,CAA,P243757_F,ASB15,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ASB15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150649386,150649386,-,TCTTTCTC,P243757_F,KCNH2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,KCNH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151836878,151836878,-,A,P243757_F,KMT2C,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,KMT2C,NM_170606:exon56:c.14344-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151932809,151932810,TA,-,P243757_F,KMT2C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125567722,125567722,-,AG,P243757_F,MTSS1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MTSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,130874615,130874615,A,-,P243757_F,FAM49B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM49B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36642980,36642980,-,T,P243757_F,MELK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MELK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79966455,79966455,T,-,P243757_F,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,94842996,94842996,T,-,P243757_F,SPTLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101068295,101068295,A,-,P243757_F,GABBR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABBR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112030960,112030960,-,TT,P243757_F,EPB41L4B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EPB41L4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,118164376,118164376,T,-,P243757_F,1-Dec,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,1-Dec,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,126133874,126133876,GGT,-,P243757_F,CRB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127982475,127982476,TA,-,P243757_F,RABEPK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RABEPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130413852,130413853,CT,-,P243757_F,STXBP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STXBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131761366,131761367,AG,-,P243757_F,NUP188,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NUP188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,909404,909404,-,AG,P243757_F,LARP4B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LARP4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5998212,5998213,AA,-,P243757_F,IL15RA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IL15RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,30747197,30747197,-,G,P243757_F,MAP3K8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,51537112,51537112,-,A,P243757_F,TIMM23B-AGAP6,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TIMM23B-AGAP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,101486597,101486598,CA,-,P243757_F,COX15,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COX15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102739180,102739180,-,C,P243757_F,MRPL43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL43;SEMA4G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123241587,123241587,-,GG,P243757_F,FGFR2,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,FGFR2,NM_001144919:c.*98_*99insCC;NM_001144913:c.*98_*99insCC,NA,NA,NA,NA,NA,NA,NA,NA
chr11,12248460,12248460,-,A,P243757_F,MICAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47181338,47181339,CT,-,P243757_F,C11orf49,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C11orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64806929,64806929,-,AG,P243757_F,ARL2-SNX15,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,ARL2-SNX15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68837713,68837713,G,-,P243757_F,TPCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,95564074,95564074,-,TGAG,P243757_F,CEP57,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CEP57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107286893,107286893,-,G,P243757_F,CWF19L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CWF19L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118247265,118247265,T,-,P243757_F,UBE4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,129827448,129827448,-,AG,P243757_F,PRDM10,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PRDM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51749465,51749465,-,C,P243757_F,GALNT6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALNT6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80201272,80201273,TA,-,P243757_F,PPP1R12A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PPP1R12A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88530401,88530401,-,A,P243757_F,CEP290,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP290,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94620767,94620767,C,-,P243757_F,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113745888,113745888,C,-,P243757_F,SLC8B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC8B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122758509,122758509,C,-,P243757_F,CLIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122999359,122999359,A,-,P243757_F,RSRC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSRC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,27830554,27830554,T,-,P243757_F,RPL21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,76409199,76409199,T,-,P243757_F,LMO7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMO7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,78235507,78235507,-,G,P243757_F,LOC100129307,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,LOC100129307,dist=2,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21869958,21869958,G,-,P243757_F,CHD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23416223,23416223,-,C,P243757_F,LOC101926933,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101926933,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23924768,23924768,T,-,P243757_F,MYH7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MYH7;NGDN,dist=19899;dist=14144,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53235542,53235542,-,T,P243757_F,STYX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STYX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41030512,41030512,-,GAGGCA,P243757_F,RMDN3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RMDN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42671431,42671431,-,C,P243757_F,CAPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64367853,64367853,T,-,P243757_F,CIAO2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIAO2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72252471,72252471,A,-,P243757_F,MYO9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75722399,75722399,T,-,P243757_F,SIN3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIN3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78211412,78211432,CCTCCTGCTCTCGGAGCATCT,-,P243757_F,LOC645752,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LOC645752,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81440147,81440147,-,A,P243757_F,CFAP161,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP161,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,16108244,16108244,A,-,P243757_F,ABCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19483318,19483319,AG,-,P243757_F,TMC5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24818330,24818330,T,-,P243757_F,TNRC6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNRC6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27514149,27514152,CAGA,-,P243757_F,GTF3C1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GTF3C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29982585,29982599,CAAATGTCAGCTTAT,-,P243757_F,TMEM219,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMEM219,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,47252866,47252866,-,A,P243757_F,ITFG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITFG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89754096,89754096,-,A,P243757_F,CDK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3577338,3577343,CATGCC,-,P243757_F,P2RX5-TAX1BP3,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,P2RX5-TAX1BP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843745,29843745,-,A,P243757_F,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38233985,38233985,T,-,P243757_F,THRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38552488,38552488,-,T,P243757_F,TOP2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOP2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40135410,40135410,G,-,P243757_F,DNAJC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56589581,56589582,AA,-,P243757_F,MTMR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MTMR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58786787,58786787,-,G,P243757_F,BCAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61682172,61682172,G,-,P243757_F,TACO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TACO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73607550,73607550,A,-,P243757_F,MYO15B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO15B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,9587949,9587950,AA,-,P243757_F,PPP4R1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PPP4R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,56412882,56412882,-,T,P243757_F,MALT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MALT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7621205,7621205,-,C,P243757_F,PNPLA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9212803,9212803,-,G,P243757_F,OR7G2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR7G2,dist=142,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12789073,12789073,A,-,P243757_F,DHPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14952707,14952708,AG,-,P243757_F,OR7A10,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,OR7A10,dist=18,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37185814,37185815,TT,-,P243757_F,ZNF567,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF567,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39870487,39870487,-,G,P243757_F,SAMD4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMD4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49705117,49705117,A,-,P243757_F,TRPM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33896778,33896778,-,A,P243757_F,UQCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UQCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43922910,43922911,GT,-,P243757_F,MATN4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MATN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17203605,17203605,A,-,P243757_F,USP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,42823194,42823194,A,-,P243757_F,MX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46228272,46228272,A,-,P243757_F,SUMO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUMO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19420683,19420683,-,AG,P243757_F,MRPL40,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,MRPL40,NM_001318152:c.-184_-183insAG,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20739080,20739080,-,A,P243757_F,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=32296;dist=9325,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39358722,39358722,-,G,P243757_F,APOBEC3A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,APOBEC3A,NM_001270406:c.*208_*209insG;NM_145699:c.*208_*209insG,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41228094,41228094,-,GG,P243757_F,ST13,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ST13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16761749,16761749,A,-,P243757_F,SYAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,18582647,18582648,AT,-,P243757_F,CDKL5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDKL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,43599898,43599899,TT,-,P243757_F,MAOA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAOA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,150573322,150573322,-,T,P243757_F,VMA21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VMA21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,29842354,29842354,-,T,P243757_S,LINC01756,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01756;LINC01648,dist=165728;dist=644445,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55088850,55088850,A,-,P243757_S,ACOT11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOT11;FAM151A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,57189194,57189194,T,-,P243757_S,FYB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FYB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70728658,70728658,-,AG,P243757_S,ANKRD13C,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ANKRD13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,86362185,86362185,T,-,P243757_S,COL24A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL24A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852532,144852532,-,CCC,P243757_S,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148009847,148009847,A,-,P243757_S,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,166838514,166838514,A,-,P243757_S,TADA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TADA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,174948083,174948083,T,-,P243757_S,RABGAP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABGAP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200080465,200080465,A,-,P243757_S,NR5A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR5A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,214832177,214832177,T,-,P243757_S,CENPF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220789356,220789356,T,-,P243757_S,MARK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227246890,227246890,-,A,P243757_S,CDC42BPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27000612,27000613,GT,-,P243757_S,SLC35F6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC35F6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,63220992,63220992,-,T,P243757_S,EHBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69688632,69688632,A,-,P243757_S,AAK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AAK1,NM_014911:c.*14369delT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,84904020,84904020,-,A,P243757_S,DNAH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,87071773,87071773,-,T,P243757_S,CD8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99936266,99936266,A,-,P243757_S,TXNDC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101627343,101627343,-,A,P243757_S,RPL31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL31;TBC1D8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,190607739,190607739,T,-,P243757_S,ANKAR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKAR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197028246,197028246,A,-,P243757_S,STK17B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK17B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,224749576,224749576,-,TTCT,P243757_S,WDFY1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,WDFY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,232320857,232320857,A,-,P243757_S,NCL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233536766,233536766,A,-,P243757_S,EFHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52815855,52815856,AC,-,P243757_S,ITIH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122474284,122474284,-,A,P243757_S,HSPBAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPBAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151538305,151538305,T,-,P243757_S,AADACL2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,AADACL2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169998240,169998240,-,T,P243757_S,PRKCI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184907504,184907505,TT,-,P243757_S,EHHADH-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,EHHADH-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195694256,195694256,-,A,P243757_S,SDHAP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SDHAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39478849,39478849,A,-,P243757_S,LIAS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LIAS,NM_006859:c.*114delA;NM_194451:c.*152delA;NM_001363700:c.*114delA;NM_001278590:c.*114delA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,54245169,54245169,-,T,P243757_S,FIP1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FIP1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,72352882,72352882,A,-,P243757_S,SLC4A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77871187,77871187,-,GCG,P243757_S,SEPTIN11,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SEPTIN11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99055730,99055730,-,TAA,P243757_S,STPG2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,STPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,158281848,158281848,-,T,P243757_S,GRIA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10397474,10397474,T,-,P243757_S,MARCHF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34179588,34179591,AAAC,-,P243757_S,C1QTNF3-AMACR,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,C1QTNF3-AMACR;LOC646652,dist=54955;dist=10095,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38958968,38958968,-,C,P243757_S,RICTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RICTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55252985,55252985,A,-,P243757_S,IL6ST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL6ST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177987759,177987759,A,-,P243757_S,COL23A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL23A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180470293,180470294,TG,-,P243757_S,BTNL9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BTNL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,18368918,18368920,GCT,-,P243757_S,DEK,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,DEK;RNF144B,dist=104157;dist=18661,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84290088,84290089,GA,-,P243757_S,SNAP91,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SNAP91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,89511255,89511256,AC,-,P243757_S,RNGTT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RNGTT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,170059146,170059147,AC,-,P243757_S,WDR27,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WDR27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6622808,6622808,-,A,P243757_S,ZDHHC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,16901084,16901084,-,A,P243757_S,AGR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,18688075,18688075,-,T,P243757_S,HDAC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44558269,44558269,A,-,P243757_S,NPC1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPC1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100464996,100464996,A,-,P243757_S,MIR6875,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR6875;TRIP6;SLC12A9,dist=13;dist=362,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134880706,134880706,A,-,P243757_S,WDR91,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155503844,155503844,-,T,P243757_S,RBM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,32599492,32599492,T,-,P243757_S,NRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42938191,42938191,A,-,P243757_S,FNTA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNTA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,59346927,59346929,TAT,-,P243757_S,UBXN2B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBXN2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,94800262,94800262,T,-,P243757_S,TMEM67,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM67,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,20456847,20456847,-,A,P243757_S,MLLT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLLT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68410007,68410009,CCT,-,P243757_S,LINC00537,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LINC00537,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,88581476,88581476,T,-,P243757_S,NAA35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131588912,131588913,GA,-,P243757_S,SPOUT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPOUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26998490,26998490,-,A,P243757_S,PDSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,28196818,28196818,T,-,P243757_S,ARMC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,62544391,62544391,-,A,P243757_S,CDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,14527134,14527134,-,T,P243757_S,PSMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17899796,17899796,A,-,P243757_S,SERGEF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERGEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47463484,47463484,G,-,P243757_S,RAPSN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPSN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,57116940,57116940,A,-,P243757_S,P2RX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P2RX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66581204,66581204,A,-,P243757_S,C11orf80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,84997012,84997012,A,-,P243757_S,DLG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111626315,111626315,T,-,P243757_S,PPP2R1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111740825,111740825,-,T,P243757_S,ALG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119144792,119144792,T,-,P243757_S,CBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1889910,1889910,T,-,P243757_S,ADIPOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADIPOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7898810,7898810,A,-,P243757_S,CLEC4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21201613,21201616,TATA,-,P243757_S,SLCO1B3-SLCO1B7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLCO1B3-SLCO1B7;SLCO1B7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57929244,57929245,AC,-,P243757_S,DCTN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DCTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64669019,64669019,T,-,P243757_S,C12orf56,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf56,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72163724,72163724,T,-,P243757_S,RAB21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104684738,104684738,T,-,P243757_S,TXNRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105432020,105432021,TC,-,P243757_S,ALDH1L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ALDH1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,38143326,38143326,T,-,P243757_S,POSTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POSTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46148944,46148944,G,-,P243757_S,ERICH6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERICH6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52935192,52935192,A,-,P243757_S,LINC02333,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02333;THSD1,dist=19174;dist=16111,NA,NA,NA,NA,NA,NA,NA,NA
chr14,19560841,19560841,-,TTTTTA,P243757_S,POTEG,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,POTEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20086382,20086382,-,AA,P243757_S,POTEM,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,POTEM;OR11H2,dist=66110;dist=94681,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23924768,23924768,T,-,P243757_S,MYH7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MYH7;NGDN,dist=19899;dist=14144,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91467394,91467394,T,-,P243757_S,RPS6KA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95593187,95593187,A,-,P243757_S,DICER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DICER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,67956841,67956841,A,-,P243757_S,MAP2K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78211412,78211432,CCTCCTGCTCTCGGAGCATCT,-,P243757_S,LOC645752,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LOC645752,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90414601,90414601,A,-,P243757_S,AP3S2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP3S2;ARPIN-AP3S2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2642676,2642676,A,-,P243757_S,PDPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4414186,4414186,-,AA,P243757_S,CORO7,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CORO7;CORO7-PAM16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14700253,14700253,-,A,P243757_S,PARN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21902060,21902060,-,A,P243757_S,LOC100190986,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC100190986;UQCRC2,dist=24004;dist=62622,NA,NA,NA,NA,NA,NA,NA,NA
chr16,27230170,27230171,AC,-,P243757_S,KDM8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KDM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28634433,28634433,-,C,P243757_S,SULT1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SULT1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67760135,67760136,GA,-,P243757_S,RANBP10,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,RANBP10,NM_001320240:c.*196_*195delTC;NM_020850:c.*196_*195delTC;NM_001320239:c.*196_*195delTC;NM_001320238:c.*196_*195delTC,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70298635,70298635,T,-,P243757_S,AARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1553896,1553896,A,-,P243757_S,RILP,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RILP;PRPF8,dist=736;dist=27,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4443569,4443570,GT,-,P243757_S,MYBBP1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBBP1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7011045,7011048,CACG,-,P243757_S,ASGR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ASGR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17772552,17772557,CTCTCC,-,P243757_S,TOM1L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TOM1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41046662,41046662,A,-,P243757_S,LINC00671,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00671,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48616355,48616357,TGC,-,P243757_S,EPN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65156546,65156546,A,-,P243757_S,HELZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HELZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66033402,66033402,A,-,P243757_S,KPNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67251791,67251791,-,A,P243757_S,ABCA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76732535,76732535,-,AC,P243757_S,CYTH1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CYTH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,59739962,59739962,-,A,P243757_S,PIGN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2557011,2557012,AC,-,P243757_S,GNG7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GNG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3772010,3772011,TG,-,P243757_S,RAX2,Splice_Site,NA,NA,NA,NA,DEL,SNVindel,splicing,RAX2,NM_001319074:exon2:r.spl,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16466432,16466433,GT,-,P243757_S,EPS15L1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,EPS15L1,NM_001258374:c.*84_*83delAC,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48654326,48654326,-,A,P243757_S,LIG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49705117,49705117,A,-,P243757_S,TRPM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52817240,52817240,-,A,P243757_S,ZNF480,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF480,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54972243,54972243,C,-,P243757_S,LENG8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LENG8,NM_052925:c.*135delC,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33054130,33054130,T,-,P243757_S,MIR644A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR644A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33972451,33972451,-,A,P243757_S,UQCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UQCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34769963,34769966,TTTC,-,P243757_S,EPB41L1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPB41L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47855328,47855328,G,-,P243757_S,DDX27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20929656,20929656,T,-,P243757_S,MED15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35659293,35659293,-,T,P243757_S,HMGXB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGXB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38881869,38881869,A,-,P243757_S,DDX17,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DDX17,NM_001098504:c.*71delT;NM_006386:c.*71delT,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39079921,39079921,T,-,P243757_S,TOMM22,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TOMM22,NM_020243:c.*75delT,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40749316,40749318,TTC,-,P243757_S,ADSL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ADSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16761749,16761749,A,-,P243757_S,SYAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,20204549,20204549,A,-,P243757_S,RPS6KA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48243340,48243341,AA,-,P243757_S,SSX4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SSX4;SSX4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100511542,100511542,T,-,P243757_S,DRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106092451,106092451,T,-,P243757_S,TBC1D8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107827760,107827760,-,T,P243757_S,COL4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117874953,117874953,-,T,P243757_S,IL13RA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL13RA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12082570,12082571,AT,-,P243757_T,MIIP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MIIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39793057,39793057,-,G,P243757_T,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65131893,65131893,A,-,P243757_T,CACHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70728658,70728658,-,AG,P243757_T,ANKRD13C,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ANKRD13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100181380,100181380,-,A,P243757_T,FRRS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRRS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148009847,148009847,A,-,P243757_T,LOC100996740,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996740,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150203985,150203985,T,-,P243757_T,ANP32E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANP32E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151505089,151505089,T,-,P243757_T,CGN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CGN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154207627,154207627,-,T,P243757_T,UBAP2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBAP2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200080465,200080465,A,-,P243757_T,NR5A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR5A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200868486,200868487,TG,-,P243757_T,INAVA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INAVA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220789356,220789356,T,-,P243757_T,MARK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44471314,44471314,A,-,P243757_T,PPM1B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PPM1B;SLC3A1,dist=9529;dist=31305,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44471326,44471326,-,AT,P243757_T,PPM1B,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,PPM1B;SLC3A1,dist=9541;dist=31293,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95488913,95488919,TTTGTAT,-,P243757_T,ANKRD20A8P,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ANKRD20A8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,112786523,112786523,-,T,P243757_T,MERTK,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MERTK,NM_006343:c.*82_*83insT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171851049,171851049,A,-,P243757_T,TLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191788623,191788623,-,T,P243757_T,GLS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198338420,198338420,A,-,P243757_T,COQ10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ10B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203624121,203624121,T,-,P243757_T,FAM117B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM117B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,224749576,224749576,-,TTCT,P243757_T,WDFY1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,WDFY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,232995570,232995570,A,-,P243757_T,DIS3L2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DIS3L2,NM_001257282:c.*93delA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233752945,233752948,CACG,-,P243757_T,NGEF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NGEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,16261396,16261397,TG,-,P243757_T,GALNT15,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GALNT15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45042935,45042935,A,-,P243757_T,EXOSC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51469722,51469722,A,-,P243757_T,DCAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52821993,52821993,T,-,P243757_T,ITIH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52825281,52825281,-,C,P243757_T,ITIH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58120319,58120320,GT,-,P243757_T,FLNB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FLNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,69073420,69073421,TT,-,P243757_T,TMF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,89521602,89521602,-,C,P243757_T,EPHA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108672336,108672336,A,-,P243757_T,GUCA1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCA1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119904366,119904366,-,CTG,P243757_T,GPR156,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GPR156,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122821475,122821475,T,-,P243757_T,PDIA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDIA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125313711,125313711,T,-,P243757_T,OSBPL11,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,OSBPL11,NM_022776:c.-67delA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179472872,179472872,-,T,P243757_T,USP13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184907504,184907507,TTTT,-,P243757_T,EHHADH-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,EHHADH-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195269528,195269528,A,-,P243757_T,PPP1R2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,37848535,37848535,T,-,P243757_T,PGM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,41015553,41015553,-,A,P243757_T,APBB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55130162,55130162,T,-,P243757_T,PDGFRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDGFRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,62937355,62937355,-,A,P243757_T,ADGRL3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADGRL3,NM_001322246:c.*1468_*1469insA;NM_001371343:c.*729_*730insA;NM_001371344:c.*729_*730insA;NM_001322402:c.*729_*730insA;NM_001371346:c.*729_*730insA;NM_001371345:c.*729_*730insA;NM_015236:c.*729_*730insA;NM_001371342:c.*729_*730insA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99055730,99055730,-,TAA,P243757_T,STPG2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,STPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,115748914,115748914,-,TT,P243757_T,NDST4,3'Flank,NA,NA,NA,NA,INS,SNVindel,downstream,NDST4,dist=9,NA,NA,NA,NA,NA,NA,NA,NA
chr5,21494753,21494753,-,T,P243757_T,GUSBP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUSBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,21802223,21802227,TTGTT,-,P243757_T,CDH12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDH12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36257963,36257963,C,-,P243757_T,RANBP3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37348600,37348601,AT,-,P243757_T,NUP155,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NUP155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,56231361,56231361,-,A,P243757_T,MIER3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIER3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,64859456,64859462,TCTCACT,-,P243757_T,PPWD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PPWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112217637,112217637,T,-,P243757_T,REEP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REEP5;SRP19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,114605498,114605498,-,A,P243757_T,CCDC112,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC112,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137474285,137474285,T,-,P243757_T,NME5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,139904523,139904523,A,-,P243757_T,ANKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKHD1;ANKHD1-EIF4EBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150562697,150562697,T,-,P243757_T,CCDC69,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCDC69,NM_015621:c.*301delA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,161524944,161524944,-,A,P243757_T,GABRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,32610914,32610914,-,T,P243757_T,HLA-DQA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HLA-DQA1,NM_002122:c.*206_*207insT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,32627914,32627914,A,-,P243757_T,HLA-DQB1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HLA-DQB1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,116911413,116911413,-,T,P243757_T,RWDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RWDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160159863,160159863,-,A,P243757_T,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2;WTAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6036848,6036848,A,-,P243757_T,PMS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20180426,20180427,AC,-,P243757_T,MACC1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MACC1,NM_182762:c.*143_*142delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21941862,21941865,TCTT,-,P243757_T,CDCA7L,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,CDCA7L,NM_001127370:c.*78_*75delAAGA;NM_001127371:c.*78_*75delAAGA;NM_018719:c.*78_*75delAAGA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,26247985,26247985,T,-,P243757_T,CBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27228666,27228666,C,-,P243757_T,HOXA11-AS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HOXA11-AS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,77010580,77010580,-,A,P243757_T,GSAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,81695843,81695843,A,-,P243757_T,CACNA2D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,91706411,91706411,T,-,P243757_T,AKAP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95864044,95864044,-,A,P243757_T,SLC25A13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103050999,103050999,-,T,P243757_T,SLC26A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC26A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129843689,129843689,-,A,P243757_T,TMEM209,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM209,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138951166,138951166,A,-,P243757_T,UBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140055426,140055427,AG,-,P243757_T,SLC37A3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC37A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,144228295,144228295,-,A,P243757_T,TPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,35401931,35401931,A,-,P243757_T,UNC5D,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,UNC5D,NM_001322818:c.-35del-,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41391937,41391937,A,-,P243757_T,LOC102723729,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102723729,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68073974,68073975,GT,-,P243757_T,CSPP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68995411,68995411,G,-,P243757_T,PREX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,94800262,94800262,T,-,P243757_T,TMEM67,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM67,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,108315600,108315600,A,-,P243757_T,ANGPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,118175650,118175650,-,T,P243757_T,SLC30A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC30A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124748127,124748127,A,-,P243757_T,ANXA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANXA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131128819,131128819,A,-,P243757_T,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,271889,271890,CT,-,P243757_T,DOCK8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DOCK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,20502090,20502092,AAG,-,P243757_T,MLLT3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MLLT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33056972,33056972,A,-,P243757_T,SMU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115060091,115060091,A,-,P243757_T,PTBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,118164376,118164376,T,-,P243757_T,1-Dec,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,1-Dec,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127619625,127619625,-,C,P243757_T,WDR38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131777205,131777205,-,T,P243757_T,SH3GLB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3GLB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,29788029,29788029,-,CACACACACACATGTG,P243757_T,SVIL,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SVIL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,60273190,60273193,CGGC,-,P243757_T,BICC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BICC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,78977052,78977052,-,A,P243757_T,KCNMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,92678871,92678871,A,-,P243757_T,ANKRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96117979,96117980,CA,-,P243757_T,NOC3L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NOC3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102035183,102035183,A,-,P243757_T,BLOC1S2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BLOC1S2,NM_001001342:c.*36delT;NM_001282438:c.*36delT;NM_001282436:c.*36delT;NM_001282437:c.*36delT;NM_001282439:c.*36delT;NM_173809:c.*36delT,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104650278,104650278,T,-,P243757_T,BORCS7-ASMT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BORCS7-ASMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,106970849,106970849,G,-,P243757_T,SORCS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORCS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5274452,5274452,-,T,P243757_T,HBG2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HBG2,NM_000184:c.*54_*55insA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47463484,47463484,G,-,P243757_T,RAPSN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPSN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62345059,62345059,A,-,P243757_T,TUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73390773,73390774,AA,-,P243757_T,RAB6A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RAB6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,105950153,105950153,-,TAGA,P243757_T,AASDHPPT,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,AASDHPPT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107286893,107286893,-,G,P243757_T,CWF19L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CWF19L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108188267,108188267,T,-,P243757_T,ATM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATM;C11orf65,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,110333030,110333030,-,AT,P243757_T,FDX1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FDX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111626315,111626315,T,-,P243757_T,PPP2R1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111989991,111989991,T,-,P243757_T,SDHD,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SDHD;IL18,dist=23473;dist=23992,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119144792,119144792,T,-,P243757_T,CBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,125452394,125452394,-,A,P243757_T,STT3A-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,STT3A-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7308935,7308936,TG,-,P243757_T,CLSTN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLSTN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15095807,15095807,T,-,P243757_T,ARHGDIB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGDIB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,29493723,29493723,T,-,P243757_T,ERGIC2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ERGIC2,NM_016570:c.*366delA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,32753527,32753527,-,TTC,P243757_T,FGD4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FGD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57929244,57929245,AC,-,P243757_T,DCTN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DCTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,99059317,99059317,T,-,P243757_T,APAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,100774465,100774465,T,-,P243757_T,SLC17A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC17A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112515955,112515955,A,-,P243757_T,NAA25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124278406,124278406,T,-,P243757_T,DNAH10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129298468,129298468,-,AATA,P243757_T,SLC15A4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SLC15A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24845160,24845161,CT,-,P243757_T,SPATA13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPATA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,31035467,31035467,-,A,P243757_T,HMGB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HMGB1,NM_002128:c.*26_*27insT;NM_001370341:c.*26_*27insT;NM_001370340:c.*26_*27insT;NM_001370339:c.*352_*353insT;NM_001363661:c.*247_*248insT;NM_001313893:c.*26_*27insT;NM_001313892:c.*26_*27insT,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52935192,52935192,A,-,P243757_T,LINC02333,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02333;THSD1,dist=19174;dist=16111,NA,NA,NA,NA,NA,NA,NA,NA
chr14,19560841,19560841,-,TTTTTA,P243757_T,POTEG,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,POTEG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22771930,22771930,A,-,P243757_T,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=632698;dist=75878,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23924768,23924768,T,-,P243757_T,MYH7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MYH7;NGDN,dist=19899;dist=14144,NA,NA,NA,NA,NA,NA,NA,NA
chr14,54903506,54903506,A,-,P243757_T,CNIH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88429917,88429917,A,-,P243757_T,GALC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95923757,95923758,GT,-,P243757_T,SYNE3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYNE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25425827,25425827,-,G,P243757_T,SNHG14,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41814526,41814526,C,-,P243757_T,RPAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50754454,50754454,T,-,P243757_T,USP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,58990606,58990608,AAA,-,P243757_T,ADAM10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ADAM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,63131237,63131237,-,AG,P243757_T,TLN2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TLN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,67956841,67956841,A,-,P243757_T,MAP2K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69715488,69715488,C,-,P243757_T,KIF23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78211412,78211432,CCTCCTGCTCTCGGAGCATCT,-,P243757_T,LOC645752,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LOC645752,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2643024,2643024,-,T,P243757_T,PDPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4414186,4414186,-,A,P243757_T,CORO7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CORO7;CORO7-PAM16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14700253,14700253,-,A,P243757_T,PARN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28634433,28634433,-,C,P243757_T,SULT1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SULT1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69199098,69199098,A,-,P243757_T,UTP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70030143,70030143,A,-,P243757_T,PDXDC2P-NPIPB14P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PDXDC2P-NPIPB14P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88752673,88752674,CT,-,P243757_T,SNAI3-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,SNAI3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5044640,5044640,-,A,P243757_T,USP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5045630,5045630,-,TG,P243757_T,USP6,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,USP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18785824,18785824,A,-,P243757_T,PRPSAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPSAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27575993,27575995,CAA,-,P243757_T,CRYBA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CRYBA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38565626,38565626,-,A,P243757_T,TOP2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOP2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40475650,40475650,-,A,P243757_T,STAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56598214,56598214,A,-,P243757_T,SEPTIN4-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SEPTIN4-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58066608,58066608,T,-,P243757_T,RNFT1-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RNFT1-DT;TBC1D3P1-DHX40P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66988994,66988995,GT,-,P243757_T,ABCA9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABCA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78086169,78086169,-,G,P243757_T,GAA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,674535,674535,-,C,P243757_T,ENOSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENOSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,5960037,5960042,ACACAC,-,P243757_T,L3MBTL4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,L3MBTL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14952707,14952708,AG,-,P243757_T,OR7A10,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,OR7A10,dist=18,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19789425,19789425,A,-,P243757_T,ZNF101,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF101,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35758790,35758790,T,-,P243757_T,LSR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LSR,NM_015925:c.*28delT;NM_001260490:c.*28delT;NM_001260489:c.*28delT;NM_205835:c.*28delT;NM_205834:c.*28delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45430995,45430997,ACA,-,P243757_T,APOC1P1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,APOC1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49138655,49138656,TT,-,P243757_T,DBP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49138657,49138657,-,AAGACCAA,P243757_T,DBP,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55175066,55175066,-,A,P243757_T,LILRB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55175074,55175074,G,-,P243757_T,LILRB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57184361,57184361,-,T,P243757_T,ZNF835,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF835;ZIM2-AS1,dist=1236;dist=92329,NA,NA,NA,NA,NA,NA,NA,NA
chr20,26061767,26061768,TC,-,P243757_T,FAM182A,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FAM182A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36572311,36572311,C,-,P243757_T,VSTM2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,50310483,50310483,-,TC,P243757_T,ATP9A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ATP9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30400155,30400155,T,-,P243757_T,USP16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46199287,46199287,G,-,P243757_T,UBE2G2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2G2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35659293,35659293,-,T,P243757_T,HMGXB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGXB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37471041,37471042,AC,-,P243757_T,TMPRSS6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMPRSS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,20204549,20204549,A,-,P243757_T,RPS6KA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107840190,107840191,TG,-,P243757_T,COL4A5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,123538802,123538802,-,AAAC,P243757_T,TENM1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TENM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24978893,24978893,A,-,P258689_F,SRRM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,34033078,34033078,-,AT,P258689_F,CSMD2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CSMD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151535021,151535022,TC,-,P258689_F,TUFT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TUFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11348364,11348364,-,TAACT,P258689_F,ROCK2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ROCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55559652,55559652,A,-,P258689_F,CCDC88A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73280302,73280302,-,A,P258689_F,SFXN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFXN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,109374849,109374849,-,T,P258689_F,RANBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,125282145,125282146,AC,-,P258689_F,CNTNAP5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CNTNAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,175742915,175742915,-,A,P258689_F,CHN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179542063,179542064,AT,-,P258689_F,TTN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,183948142,183948142,T,-,P258689_F,DUSP19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DUSP19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220586368,220586369,AG,-,P258689_F,SLC4A3,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,SLC4A3;LINC01803,dist=79666;dist=182403,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9739253,9739253,T,-,P258689_F,MTMR14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,25706308,25706309,CA,-,P258689_F,TOP2B,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,TOP2B;MIR4442,dist=318;dist=55,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53699667,53699667,T,-,P258689_F,CACNA1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122864807,122864807,-,G,P258689_F,PDIA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDIA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128618332,128618333,GT,-,P258689_F,ACAD9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ACAD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151143355,151143358,TGTG,-,P258689_F,MED12L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MED12L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160248732,160248732,-,A,P258689_F,KPNA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,175087409,175087410,TG,-,P258689_F,MIR4789,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,MIR4789,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183677636,183677636,A,-,P258689_F,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1209727,1209738,CACCTGTACCTG,-,P258689_F,CTBP1-AS,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,CTBP1-AS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3590873,3590874,AC,-,P258689_F,LINC00955,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LINC00955,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,7064235,7064241,ATATATA,-,P258689_F,GRPEL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRPEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,24821784,24821784,-,CA,P258689_F,CCDC149,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CCDC149,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48152854,48152854,-,A,P258689_F,TEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48165835,48165835,-,GAAA,P258689_F,TEC,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,52744121,52744122,GT,-,P258689_F,DCUN1D4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DCUN1D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,70826811,70826811,A,-,P258689_F,CSN2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CSN2,dist=82,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77969239,77969239,-,T,P258689_F,CCNI,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCNI,NM_006835:c.*132_*133insA;NM_001348133:c.*132_*133insA;NM_001348132:c.*132_*133insA;NM_001348134:c.*132_*133insA;NM_001348135:c.*132_*133insA;NM_001348136:c.*132_*133insA;NM_001348137:c.*132_*133insA;NM_001348138:c.*132_*133insA;NM_001348139:c.*132_*133insA;NM_001348140:c.*557_*558insA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,88048316,88048316,C,-,P258689_F,AFF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,105393330,105393330,T,-,P258689_F,CXXC4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CXXC4,NM_025212:c.*149delA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146067654,146067654,A,-,P258689_F,OTUD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTUD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,148589799,148589799,A,-,P258689_F,PRMT9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,185620823,185620823,T,-,P258689_F,CENPU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37036449,37036449,-,TA,P258689_F,NIPBL,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NIPBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79975047,79975047,A,-,P258689_F,MSH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132412250,132412250,T,-,P258689_F,HSPA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176295005,176295005,A,-,P258689_F,UNC5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,102130411,102130411,T,-,P258689_F,GRIK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105232828,105232828,A,-,P258689_F,HACE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HACE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,128321486,128321486,-,A,P258689_F,PTPRK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152751398,152751398,-,A,P258689_F,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2434595,2434595,T,-,P258689_F,EIF3B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,EIF3B;CHST12,dist=14218;dist=8651,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76883807,76883807,T,-,P258689_F,CCDC146,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC146,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92158717,92158717,-,A,P258689_F,RBM48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98659721,98659721,T,-,P258689_F,SMURF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMURF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100464996,100464996,A,-,P258689_F,MIR6875,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR6875;TRIP6;SLC12A9,dist=13;dist=362,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123190739,123190739,-,T,P258689_F,NDUFA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130149591,130149592,TG,-,P258689_F,COPG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,132720814,132720816,ATG,-,P258689_F,CHCHD3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CHCHD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,135304090,135304090,-,A,P258689_F,NUP205,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP205,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143017719,143017722,TTGT,-,P258689_F,CLCN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151066099,151066099,T,-,P258689_F,NUB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22053163,22053163,-,TT,P258689_F,BMP1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,BMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30657032,30657032,-,A,P258689_F,PPP2CB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2CB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,101105742,101105742,A,-,P258689_F,RGS22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110492743,110492743,-,A,P258689_F,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37305830,37305831,AT,-,P258689_F,ZCCHC7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZCCHC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79852901,79852901,T,-,P258689_F,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,87475807,87475810,TTTA,-,P258689_F,NTRK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NTRK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,128305260,128305261,CA,-,P258689_F,MAPKAP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAPKAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130941707,130941707,A,-,P258689_F,CIZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,18198214,18198214,T,-,P258689_F,MRC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,29162165,29162165,T,-,P258689_F,C10orf126,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C10orf126,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,29833684,29833685,AA,-,P258689_F,SVIL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SVIL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,48922719,48922739,GCTCCTGCCATCCTGTCCTCA,-,P258689_F,FRMPD2B,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,FRMPD2B;BMS1P1,dist=60031;dist=4635,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95415734,95415734,-,AC,P258689_F,PDE6C,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PDE6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104404969,104404970,CA,-,P258689_F,TRIM8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRIM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2920954,2920954,A,-,P258689_F,SLC22A18,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLC22A18;SLC22A18AS,NM_183233:c.-3622del-;NM_007105:c.-23delT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,55656438,55656438,T,-,P258689_F,TRIM51,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM51,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124622194,124622194,A,-,P258689_F,VSIG2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,VSIG2;ESAM,dist=43;dist=829,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1290950,1290950,A,-,P258689_F,ERC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,25368594,25368594,T,-,P258689_F,KRAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51181971,51181971,T,-,P258689_F,ATF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56641131,56641133,AAA,-,P258689_F,ANKRD52,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANKRD52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88422926,88422926,-,T,P258689_F,C12orf50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94654286,94654287,AA,-,P258689_F,PLXNC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111351964,111351965,AC,-,P258689_F,MYL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121093622,121093625,GTGC,-,P258689_F,CABP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CABP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,39608348,39608348,C,-,P258689_F,PROSER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PROSER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,42042874,42042875,CT,-,P258689_F,RGCC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RGCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,42882205,42882205,-,A,P258689_F,LRFN5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LRFN5;NONE,dist=508453;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95923422,95923422,A,-,P258689_F,SYNE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,30003292,30003292,A,-,P258689_F,TJP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TJP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69548046,69548046,-,A,P258689_F,GLCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,70992011,70992011,A,-,P258689_F,UACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78518952,78518952,A,-,P258689_F,ACSBG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSBG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85046591,85046594,GTGT,-,P258689_F,DNM1P41,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,DNM1P41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1031283,1031286,TGTG,-,P258689_F,LMF1,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,LMF1,NM_001352019:c.-26751_-26754delCACA;NM_001352018:c.-47178_-47181delCACA;NM_001352017:c.-70341_-70344delCACA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,34327898,34327901,AAGT,-,P258689_F,CCNYL3,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,CCNYL3;UBE2MP1,dist=33199;dist=75901,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40369098,40369098,A,-,P258689_F,STAT5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46004898,46004902,AAAAA,-,P258689_F,SP2-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,SP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48777807,48777807,A,-,P258689_F,ANKRD40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,53723898,53723898,A,-,P258689_F,LINC01905,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01905;LOC642484,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,68019182,68019183,TC,-,P258689_F,LINC01909,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LINC01909,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9237746,9237746,-,TC,P258689_F,OR7G3,5'Flank,NA,NA,NA,NA,INS,SNVindel,upstream,OR7G3,dist=120,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9729935,9729938,AAAT,-,P258689_F,ZNF561,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF561,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16283853,16283854,AC,-,P258689_F,CIB3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CIB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,30018094,30018095,CT,-,P258689_F,VSTM2B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VSTM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41129079,41129079,-,T,P258689_F,LTBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45515131,45515131,T,-,P258689_F,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51919434,51919434,-,A,P258689_F,LOC100129083,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC100129083;SIGLEC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,26061767,26061768,TC,-,P258689_F,FAM182A,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FAM182A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34282810,34282810,A,-,P258689_F,NFS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,27097749,27097749,-,T,P258689_F,ATP5PF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5PF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30127346,30127347,AG,-,P258689_F,CABP7,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,CABP7,NM_182527:c.*1788_*1789delAG,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42415225,42415225,A,-,P258689_F,WBP2NL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WBP2NL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48373214,48373214,A,-,P258689_F,PORCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PORCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73051279,73051279,-,A,P258689_F,XIST,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106097565,106097565,-,T,P258689_F,TBC1D8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,134025421,134025421,-,A,P258689_F,MOSPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOSPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11187619,11187619,T,-,P258689_S,MTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17198146,17198147,AC,-,P258689_S,LOC440570,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LOC440570,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27745369,27745369,T,-,P258689_S,WASF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54252940,54252940,A,-,P258689_S,NDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,91845859,91845859,A,-,P258689_S,HFM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HFM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114443731,114443733,AAT,-,P258689_S,AP4B1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,AP4B1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145458155,145458155,T,-,P258689_S,NBPF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF10;NBPF19;NBPF20;POLR3GL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151535021,151535022,TC,-,P258689_S,TUFT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TUFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,174934127,174934127,-,T,P258689_S,RABGAP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABGAP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225707272,225707272,A,-,P258689_S,ENAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235331782,235331782,A,-,P258689_S,ARID4B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARID4B,NM_001206794:c.*58delT;NM_016374:c.*58delT;NM_031371:c.*58delT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7421610,7421611,TG,-,P258689_S,LOC101929452,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC101929452;LOC100506274,dist=203599;dist=139781,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24521687,24521687,A,-,P258689_S,ITSN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITSN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26817878,26817878,-,T,P258689_S,CIB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46844374,46844376,CTG,-,P258689_S,CRIPT,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CRIPT,NM_014171:c.-48_-46del-,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191116412,191116412,A,-,P258689_S,HIBCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIBCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,200800573,200800573,A,-,P258689_S,TYW5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201719259,201719259,A,-,P258689_S,CLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233675933,233675933,T,-,P258689_S,GIGYF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GIGYF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49048449,49048449,A,-,P258689_S,WDR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51469722,51469722,A,-,P258689_S,DCAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,97499619,97499619,-,T,P258689_S,ARL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150332195,150332195,-,G,P258689_S,SELENOT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SELENOT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,182587000,182587000,T,-,P258689_S,ATP11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25749902,25749902,-,A,P258689_S,SEL1L3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEL1L3,NM_001297592:c.*144_*145insT;NM_001297594:c.*144_*145insT;NM_015187:c.*144_*145insT,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47695102,47695102,-,A,P258689_S,CORIN,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CORIN,NM_001278585:exon5:c.599-2->T;NM_006587:exon6:c.800-2->T;NM_001278586:exon6:c.800-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48165835,48165835,-,GAAA,P258689_S,TEC,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48165889,48165891,TTA,-,P258689_S,TEC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,95206099,95206099,-,T,P258689_S,SMARCAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4930087,4930088,GA,-,P258689_S,LINC02114,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC02114;LINC01020,dist=155109;dist=104384,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10397473,10397473,-,T,P258689_S,MARCHF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34182134,34182134,T,-,P258689_S,C1QTNF3-AMACR,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,C1QTNF3-AMACR;LOC646652,dist=57501;dist=7552,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112217637,112217637,T,-,P258689_S,REEP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REEP5;SRP19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,115167565,115167565,A,-,P258689_S,ATG12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,118877529,118877529,-,A,P258689_S,HSD17B4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,134007593,134007593,-,T,P258689_S,SEC24A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC24A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137346646,137346646,-,A,P258689_S,FAM13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156640563,156640563,-,T,P258689_S,ITK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176516969,176516970,GT,-,P258689_S,FGFR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FGFR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,656079,656079,-,A,P258689_S,HUS1B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HUS1B,NM_148959:c.*28_*29insT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47220840,47220841,GT,-,P258689_S,TNFRSF21,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNFRSF21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,52619886,52619886,-,A,P258689_S,GSTA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,71562148,71562148,T,-,P258689_S,SMAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,91022591,91022592,TG,-,P258689_S,MIR4464,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,MIR4464,dist=39,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123758527,123758528,TT,-,P258689_S,TRDN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,128561077,128561078,CA,-,P258689_S,PTPRK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,40181310,40181310,T,-,P258689_S,SUGCT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUGCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100464996,100464996,A,-,P258689_S,MIR6875,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR6875;TRIP6;SLC12A9,dist=13;dist=362,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104946932,104946932,A,-,P258689_S,SRPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149501110,149501110,G,-,P258689_S,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151932809,151932810,TA,-,P258689_S,KMT2C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,156994332,156994332,T,-,P258689_S,UBE3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124154738,124154738,T,-,P258689_S,TBC1D31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,73458045,73458045,-,A,P258689_S,TRPM3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TRPM3,NM_001366145:exon5:c.677-2->T;NM_001366147:exon5:c.677-2->T;NM_001366151:exon5:c.677-2->T;NM_001366141:exon5:c.683-2->T;NM_206945:exon5:c.218-2->T;NM_001366150:exon5:c.677-2->T;NM_001366148:exon5:c.677-2->T;NM_001366149:exon5:c.677-2->T;NM_020952:exon5:c.218-2->T;NM_001007471:exon5:c.677-2->T;NM_001366146:exon5:c.677-2->T;NM_001366142:exon5:c.683-2->T;NM_001366154:exon5:c.218-2->T;NM_206946:exon5:c.218-2->T;NM_001366152:exon5:c.677-2->T;NM_206944:exon5:c.218-2->T;NM_001366143:exon5:c.683-2->T;NM_024971:exon5:c.218-2->T;NM_206947:exon5:c.218-2->T;NM_001366153:exon5:c.677-2->T;NM_001366144:exon5:c.683-2->T;NM_001007470:exon5:c.218-2->T;NM_206948:exon5:c.218-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr9,98270325,98270326,GT,-,P258689_S,PTCH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114182446,114182446,-,A,P258689_S,ECPAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ECPAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134953129,134953129,A,-,P258689_S,MED27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,18875051,18875051,-,A,P258689_S,NSUN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSUN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,35483830,35483832,ATT,-,P258689_S,CREM,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CREM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124920172,124920172,T,-,P258689_S,BUB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BUB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126187252,126187252,G,-,P258689_S,LHPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LHPP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47597059,47597059,A,-,P258689_S,KBTBD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KBTBD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66109527,66109527,-,TG,P258689_S,BRMS1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,BRMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,95551110,95551110,-,T,P258689_S,CEP57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108549187,108549187,A,-,P258689_S,DDX10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40938107,40938109,TCC,-,P258689_S,MUC19,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88422926,88422926,-,T,P258689_S,C12orf50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104374515,104374515,C,-,P258689_S,TDG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105509351,105509351,-,A,P258689_S,WASHC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASHC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111351964,111351965,AC,-,P258689_S,MYL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113312837,113312838,TG,-,P258689_S,RPH3A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RPH3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113617918,113617918,A,-,P258689_S,DDX54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,115110242,115110242,T,-,P258689_S,TBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121093622,121093625,GTGC,-,P258689_S,CABP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CABP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,41517026,41517026,T,-,P258689_S,ELF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,42042874,42042875,CT,-,P258689_S,RGCC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RGCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,115007533,115007533,-,A,P258689_S,CDC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36218039,36218039,-,A,P258689_S,RALGAPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALGAPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50952367,50952367,-,A,P258689_S,MAP4K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP4K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,68582260,68582260,A,-,P258689_S,RAD51B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD51B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42632799,42632799,-,A,P258689_S,GANC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GANC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50782435,50782435,T,-,P258689_S,USP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85046591,85046594,GTGT,-,P258689_S,DNM1P41,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,DNM1P41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,16244929,16244929,T,-,P258689_S,ABCC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22134674,22134674,-,A,P258689_S,VWA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68880406,68880406,T,-,P258689_S,TANGO6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TANGO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89288778,89288778,-,T,P258689_S,ZNF778,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF778,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29195528,29195528,T,-,P258689_S,ATAD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATAD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33288434,33288434,A,-,P258689_S,CCT6B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CCT6B,NM_001193529:c.-22delT;NM_006584:c.-22delT;NM_001193530:c.-22delT,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6956263,6956263,T,-,P258689_S,LOC101927188,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101927188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,63430068,63430068,A,-,P258689_S,CDH7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CDH7,NM_033646:c.-11del-;NM_004361:c.-11del-;NM_001362438:c.-11del-;NM_001317214:c.-11del-,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1395488,1395490,CGC,-,P258689_S,NDUFS7,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,NDUFS7,NM_001363602:c.*1067_*1069delCGC;NM_024407:c.*1_*3delCGC,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4539823,4539824,GT,-,P258689_S,LRG1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12494599,12494599,T,-,P258689_S,ZNF442,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF442;ZNF799,dist=18102;dist=6229,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14939072,14939073,AG,-,P258689_S,OR7A5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OR7A5;OR7C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37398706,37398706,A,-,P258689_S,ZNF829,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF829,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44335688,44335688,-,A,P258689_S,ZNF283,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF283,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44841031,44841031,T,-,P258689_S,ZNF112,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF112,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45515131,45515131,T,-,P258689_S,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45810369,45810369,T,-,P258689_S,RIBC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIBC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,40588605,40588605,-,A,P258689_S,MED14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53629650,53629651,AT,-,P258689_S,HUWE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,57010921,57010921,A,-,P258689_S,NBDY,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NBDY;SPIN3,dist=165310;dist=6343,NA,NA,NA,NA,NA,NA,NA,NA
chrX,68066096,68066097,GT,-,P258689_S,EFNB1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,EFNB1;PJA1,dist=4090;dist=314492,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73051279,73051279,-,A,P258689_S,XIST,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110924147,110924147,T,-,P258689_S,ALG13,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,ALG13,dist=251,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1201247,1201247,-,CA,P270959_F,UBE2J2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,UBE2J2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1356387,1356387,-,G,P270959_F,ANKRD65,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ANKRD65,NM_001243535:exon2:UTR5;NM_001243536:exon2:UTR5;NM_001145210:exon2:UTR5,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1588745,1588747,GCG,-,P270959_F,CDK11B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1904219,1904219,-,GCTT,P270959_F,CFAP74,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CFAP74,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11014316,11014316,-,C,P270959_F,C1orf127,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf127,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11147761,11147761,-,A,P270959_F,EXOSC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11886125,11886125,T,-,P270959_F,CLCN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,13940366,13940368,TTT,-,P270959_F,PDPN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15701356,15701356,G,-,P270959_F,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15861000,15861000,-,CT,P270959_F,DNAJC16,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DNAJC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16042715,16042715,-,T,P270959_F,PLEKHM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20411301,20411301,T,-,P270959_F,PLA2G5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21268829,21268829,-,A,P270959_F,EIF4G3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4G3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22180194,22180195,CA,-,P270959_F,HSPG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HSPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23762891,23762892,AG,-,P270959_F,ASAP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ASAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24133902,24133902,A,-,P270959_F,HMGCL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGCL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25554440,25554440,-,T,P270959_F,SYF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31906613,31906613,-,TATG,P270959_F,SERINC2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SERINC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36358976,36358976,A,-,P270959_F,AGO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36936883,36936884,GA,-,P270959_F,CSF3R,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSF3R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41540795,41540796,TT,-,P270959_F,SCMH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SCMH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44165692,44165692,-,C,P270959_F,KDM4A-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,KDM4A-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45155594,45155594,A,-,P270959_F,ARMH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46509304,46509304,-,A,P270959_F,LOC110117498-PIK3R3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LOC110117498-PIK3R3;PIK3R3,NM_001303427:c.*40_*41insT;NM_001303429:c.*40_*41insT;NM_001303428:c.*40_*41insT;NM_001328648:c.*40_*41insT;NM_003629:c.*40_*41insT;NM_001328653:c.*40_*41insT;NM_001328654:c.*40_*41insT;NM_001328652:c.*40_*41insT;NM_001328651:c.*40_*41insT;NM_001328649:c.*40_*41insT;NM_001328650:c.*40_*41insT;NM_001114172:c.*40_*41insT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55088801,55088801,A,-,P270959_F,ACOT11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACOT11;FAM151A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70646932,70646932,A,-,P270959_F,LRRC40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,74818936,74818936,-,T,P270959_F,FPGT-TNNI3K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FPGT-TNNI3K;TNNI3K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78104939,78104939,A,-,P270959_F,ZZZ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZZ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78279611,78279611,-,T,P270959_F,MIGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92786077,92786077,-,T,P270959_F,RPAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94574343,94574343,T,-,P270959_F,ABCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100184939,100184939,-,G,P270959_F,FRRS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRRS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100819424,100819424,-,T,P270959_F,CDC14A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC14A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,101440704,101440704,-,T,P270959_F,SLC30A7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC30A7,NM_133496:c.*291_*292insT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110215726,110215727,AG,-,P270959_F,GSTM2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GSTM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118502088,118502088,T,-,P270959_F,WDR3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WDR3,NM_006784:c.*18delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145706561,145706561,-,AT,P270959_F,CD160,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CD160;NBPF10;NBPF19;NBPF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151070245,151070245,-,CT,P270959_F,GABPB2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GABPB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151196703,151196703,T,-,P270959_F,PIP5K1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP5K1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153637083,153637086,TTGC,-,P270959_F,ILF2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ILF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153642149,153642149,T,-,P270959_F,ILF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ILF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153925441,153925441,-,CT,P270959_F,CRTC2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CRTC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154185145,154185145,-,T,P270959_F,C1orf43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155885532,155885533,AG,-,P270959_F,KHDC4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KHDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156874875,156874875,G,-,P270959_F,PEAR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEAR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,165721440,165721440,-,A,P270959_F,TMCO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMCO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167817521,167817521,-,CA,P270959_F,ADCY10,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ADCY10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168161498,168161498,-,TG,P270959_F,TIPRL,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,TIPRL,NM_001031800:c.*32_*33insTG,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169207035,169207035,A,-,P270959_F,NME7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169256426,169256426,A,-,P270959_F,NME7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169366387,169366387,T,-,P270959_F,CCDC181,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC181,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173702733,173702733,A,-,P270959_F,KLHL20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179054533,179054533,-,G,P270959_F,TOR3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOR3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179086420,179086420,A,-,P270959_F,ABL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,185269101,185269101,A,-,P270959_F,IVNS1ABP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IVNS1ABP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,198711171,198711171,A,-,P270959_F,PTPRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204512100,204512100,T,-,P270959_F,MDM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207520786,207520786,C,-,P270959_F,CD55,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,213009160,213009160,A,-,P270959_F,SPATA45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,216880577,216880577,T,-,P270959_F,ESRRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESRRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,218458654,218458654,-,A,P270959_F,RRP15,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RRP15,NM_016052:c.-5_-4insA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220232105,220232106,AA,-,P270959_F,BPNT1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,BPNT1,NM_006085:c.*81_*80delTT;NM_001286151:c.*81_*80delTT;NM_001286149:c.*81_*80delTT;NM_001286150:c.*81_*80delTT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220869875,220869875,T,-,P270959_F,C1orf115,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf115,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,222753051,222753051,A,-,P270959_F,TAF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225607376,225607376,A,-,P270959_F,LBR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LBR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230828979,230828979,-,C,P270959_F,COG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,234601615,234601615,-,A,P270959_F,TARBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TARBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247130091,247130091,-,A,P270959_F,ZNF670-ZNF695,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF670-ZNF695,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10581087,10581087,T,-,P270959_F,ODC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ODC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10937783,10937783,A,-,P270959_F,PDIA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDIA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20130971,20130971,T,-,P270959_F,WDR35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24306108,24306108,T,-,P270959_F,FAM228B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM228B;TP53I3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24521686,24521686,-,A,P270959_F,ITSN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITSN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26176790,26176790,-,C,P270959_F,KIF3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26484081,26484081,C,-,P270959_F,HADHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HADHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27460127,27460128,GG,-,P270959_F,CAD,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27716068,27716068,-,A,P270959_F,FNDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37318902,37318902,A,-,P270959_F,GPATCH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39075647,39075647,A,-,P270959_F,DHX57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44554099,44554099,A,-,P270959_F,PREPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44942370,44942370,T,-,P270959_F,CAMKMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,56611387,56611387,T,-,P270959_F,CCDC85A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC85A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,58453844,58453844,A,-,P270959_F,FANCL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70519669,70519669,G,-,P270959_F,SNRPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85858144,85858144,-,T,P270959_F,USP39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86839484,86839484,A,-,P270959_F,RNF103,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF103;RNF103-CHMP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,88484805,88484805,-,C,P270959_F,THNSL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THNSL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99936266,99936266,A,-,P270959_F,TXNDC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,112621499,112621499,A,-,P270959_F,ANAPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANAPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114369806,114369806,-,CTT,P270959_F,RPL23AP7,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,RPL23AP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,125204770,125204770,T,-,P270959_F,CNTNAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTNAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128854891,128854891,-,G,P270959_F,UGGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152684705,152684705,C,-,P270959_F,ARL5A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ARL5A,NM_012097:c.-15delG,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158400931,158400931,A,-,P270959_F,ACVR1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACVR1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162862328,162862328,-,A,P270959_F,DPP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,163078035,163078035,A,-,P270959_F,FAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165771793,165771793,A,-,P270959_F,SLC38A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,170938213,170938213,-,T,P270959_F,UBR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,173662239,173662239,T,-,P270959_F,RAPGEF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,187531857,187531857,T,-,P270959_F,ITGAV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,189997647,189997647,A,-,P270959_F,COL5A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201950167,201950167,T,-,P270959_F,NDUFB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,210707055,210707055,T,-,P270959_F,UNC80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215802163,215802163,-,C,P270959_F,SNHG31,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219256332,219256332,T,-,P270959_F,SLC11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219414447,219414447,-,A,P270959_F,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,222290624,222290624,T,-,P270959_F,EPHA4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EPHA4,NM_001363748:c.*264delA;NM_001304536:c.*124delA;NM_001304537:c.*124delA;NM_004438:c.*124delA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,222435036,222435036,C,-,P270959_F,EPHA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,227779364,227779364,A,-,P270959_F,RHBDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,228740971,228740971,-,AA,P270959_F,DAW1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DAW1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,230096613,230096613,-,A,P270959_F,PID1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PID1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231741430,231741430,-,C,P270959_F,ITM2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITM2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239157531,239157531,-,AG,P270959_F,PER2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PER2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15282164,15282164,A,-,P270959_F,CAPN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,21606028,21606028,T,-,P270959_F,ZNF385D-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF385D-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27494895,27494895,-,A,P270959_F,SLC4A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33065729,33065729,T,-,P270959_F,GLB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,36570259,36570259,-,A,P270959_F,STAC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37369772,37369773,CT,-,P270959_F,GOLGA4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GOLGA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37560595,37560595,C,-,P270959_F,ITGA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39186123,39186123,A,-,P270959_F,CSRNP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSRNP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,41268677,41268678,AT,-,P270959_F,CTNNB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTNNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51469722,51469723,AA,-,P270959_F,DCAF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DCAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51675567,51675568,AG,-,P270959_F,RAD54L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RAD54L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52771825,52771825,T,-,P270959_F,NEK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52833559,52833559,T,-,P270959_F,ITIH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57322931,57322932,AC,-,P270959_F,ASB14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ASB14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57911483,57911484,TC,-,P270959_F,SLMAP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLMAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58407214,58407214,-,G,P270959_F,PXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65361030,65361030,-,T,P270959_F,MAGI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,78709069,78709074,TTTTTT,-,P270959_F,ROBO1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ROBO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,87275442,87275442,-,AA,P270959_F,MIR4795,5'Flank,NA,NA,NA,NA,INS,SNVindel,upstream,MIR4795,dist=15,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113098034,113098034,-,A,P270959_F,CFAP44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113442785,113442785,A,-,P270959_F,NAA50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113655097,113655097,T,-,P270959_F,GRAMD1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,129152182,129152182,T,-,P270959_F,MBD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130365174,130365174,-,T,P270959_F,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,136710622,136710622,-,G,P270959_F,IL20RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL20RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,136710642,136710643,GT,-,P270959_F,IL20RB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IL20RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138417718,138417718,A,-,P270959_F,PIK3CB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,140678385,140678385,A,-,P270959_F,SLC25A36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141892042,141892042,A,-,P270959_F,GK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148583232,148583232,T,-,P270959_F,CPA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,149087439,149087439,A,-,P270959_F,TM4SF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TM4SF1,NM_014220:c.*214delT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160395090,160395090,A,-,P270959_F,ARL14,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ARL14,NM_025047:c.-45del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179537829,179537829,-,C,P270959_F,PEX5L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX5L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183857803,183857803,-,C,P270959_F,EIF2B5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2B5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184005879,184005879,-,CC,P270959_F,ECE2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ECE2;EEF1AKMT4-ECE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186330746,186330746,T,-,P270959_F,AHSG,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,AHSG,dist=103,NA,NA,NA,NA,NA,NA,NA,NA
chr3,189691548,189691548,-,AA,P270959_F,P3H2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,P3H2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,192078485,192078485,T,-,P270959_F,FGF12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194083903,194083903,-,AG,P270959_F,LRRC15,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LRRC15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194165561,194165561,-,A,P270959_F,ATP13A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194219775,194219775,-,A,P270959_F,LINC00884,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00884;TMEM44-AS1,dist=10501;dist=85222,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195102591,195102591,T,-,P270959_F,ACAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1721068,1721068,-,AGG,P270959_F,TMEM129,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TMEM129,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5567179,5567180,CC,-,P270959_F,EVC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EVC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5630470,5630470,-,A,P270959_F,EVC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EVC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,6050725,6050725,T,-,P270959_F,JAKMIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAKMIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,8612815,8612818,TCAC,-,P270959_F,CPZ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CPZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,15725047,15725047,T,-,P270959_F,BST1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BST1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25759108,25759108,-,C,P270959_F,SEL1L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEL1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,31018406,31018409,TGTG,-,P270959_F,PCDH7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PCDH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,38907018,38907018,T,-,P270959_F,FAM114A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM114A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,44682662,44682662,T,-,P270959_F,GUF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47916234,47916234,A,-,P270959_F,NFXL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFXL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57176965,57176965,T,-,P270959_F,KIAA1211,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1211,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57830467,57830468,AG,-,P270959_F,NOA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NOA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71634114,71634114,-,T,P270959_F,RUFY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUFY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74703249,74703249,T,-,P270959_F,CXCL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXCL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81207393,81207393,-,T,P270959_F,FGF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83740164,83740164,T,-,P270959_F,SEC31A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEC31A,NM_001318119:c.*63delA;NM_001191049:c.*63delA;NM_001077208:c.*63delA;NM_001318120:c.*63delA;NM_016211:c.*63delA;NM_001077206:c.*63delA;NM_001300745:c.*63delA;NM_001300744:c.*63delA;NM_001077207:c.*63delA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,88416023,88416023,-,A,P270959_F,SPARCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPARCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99030330,99030330,-,T,P270959_F,STPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103188866,103188866,T,-,P270959_F,SLC39A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114176849,114176849,A,-,P270959_F,ANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119621927,119621927,A,-,P270959_F,METTL14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,143344975,143344975,A,-,P270959_F,INPP4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146031237,146031237,T,-,P270959_F,ABCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,159538141,159538143,AAA,-,P270959_F,RXFP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RXFP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,160271269,160271269,T,-,P270959_F,RAPGEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,184114633,184114634,TT,-,P270959_F,WWC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WWC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,184567432,184567432,A,-,P270959_F,RWDD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RWDD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1799075,1799075,A,-,P270959_F,MRPL36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1879110,1879110,T,-,P270959_F,IRX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IRX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10390429,10390429,T,-,P270959_F,MARCHF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,24509583,24509583,-,AG,P270959_F,CDH10,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CDH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,31508988,31508988,-,G,P270959_F,DROSHA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DROSHA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32786466,32786466,T,-,P270959_F,NPR3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NPR3,NM_001364458:c.*15delT;NM_001204376:c.*15delT;NM_001363652:c.*15delT;NM_001364460:c.*15delT;NM_001204375:c.*15delT;NM_000908:c.*15delT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34822965,34822968,TTTT,-,P270959_F,RAI14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RAI14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36123066,36123068,AAA,-,P270959_F,LMBRD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LMBRD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37243069,37243069,-,A,P270959_F,CPLANE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPLANE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37333437,37333437,-,C,P270959_F,NUP155,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38820856,38820857,AT,-,P270959_F,OSMR-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,OSMR-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38883913,38883913,T,-,P270959_F,OSMR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSMR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38953504,38953504,A,-,P270959_F,RICTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RICTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,40747165,40747165,T,-,P270959_F,TTC33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43294014,43294014,G,-,P270959_F,HMGCS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGCS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,50074332,50074332,T,-,P270959_F,PARP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,53183185,53183185,T,-,P270959_F,ARL15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,58386962,58386962,-,A,P270959_F,PDE4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,65316998,65316998,A,-,P270959_F,ERBIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERBIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68564986,68564986,A,-,P270959_F,CDK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79751468,79751468,T,-,P270959_F,ZFYVE16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFYVE16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,83550061,83550061,T,-,P270959_F,EDIL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDIL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94782656,94782656,A,-,P270959_F,FAM81B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM81B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94877400,94877400,A,-,P270959_F,TTC37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,118877530,118877531,AA,-,P270959_F,HSD17B4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HSD17B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,125906593,125906593,-,T,P270959_F,ALDH7A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH7A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140803318,140803318,G,-,P270959_F,PCDHGA11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PCDHGA11,NM_032091:c.*10delG,NA,NA,NA,NA,NA,NA,NA,NA
chr5,141353037,141353038,AG,-,P270959_F,RNF14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RNF14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145524123,145524123,-,T,P270959_F,LARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145529283,145529283,A,-,P270959_F,LARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,146752675,146752675,T,-,P270959_F,STK32A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK32A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,151055562,151055562,A,-,P270959_F,SPARC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPARC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,171341420,171341420,A,-,P270959_F,FBXW11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXW11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,174935828,174935828,-,T,P270959_F,SFXN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFXN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179150789,179150789,T,-,P270959_F,CANX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CANX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180049925,180049925,-,C,P270959_F,FLT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10830633,10830633,-,AG,P270959_F,MAK,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MAK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13597296,13597296,A,-,P270959_F,SIRT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36930484,36930485,GG,-,P270959_F,PI16,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PI16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41708153,41708154,TG,-,P270959_F,PGC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PGC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42211320,42211320,-,TT,P270959_F,TRERF1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TRERF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43316022,43316022,-,A,P270959_F,ZNF318,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF318,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47684723,47684723,A,-,P270959_F,ADGRF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70459210,70459210,A,-,P270959_F,LMBRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMBRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111628999,111628999,-,T,P270959_F,REV3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REV3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123786155,123786155,A,-,P270959_F,TRDN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRDN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,124759017,124759017,-,GTTTTT,P270959_F,NKAIN2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NKAIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,134583519,134583519,T,-,P270959_F,SGK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135261363,135261363,-,A,P270959_F,ALDH8A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH8A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135754115,135754115,A,-,P270959_F,AHI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144843091,144843091,-,T,P270959_F,UTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,146256316,146256316,A,-,P270959_F,SHPRH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHPRH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152552705,152552705,A,-,P270959_F,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,159294532,159294532,A,-,P270959_F,C6orf99,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C6orf99,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161139247,161139247,-,C,P270959_F,PLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161586755,161586755,A,-,P270959_F,AGPAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGPAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168355108,168355108,T,-,P270959_F,AFDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5752519,5752519,A,-,P270959_F,RNF216,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF216,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6470059,6470059,T,-,P270959_F,DAGLB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAGLB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20826271,20826271,A,-,P270959_F,SP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23823182,23823182,-,T,P270959_F,STK31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,27147452,27147454,AAA,-,P270959_F,HOXA3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,HOXA3,NM_153631:c.*82_*80delTTT;NM_030661:c.*82_*80delTTT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30668035,30668036,AG,-,P270959_F,GARS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44274433,44274433,G,-,P270959_F,CAMK2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45003924,45003924,C,-,P270959_F,MYO1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56049789,56049790,CA,-,P270959_F,NIPSNAP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NIPSNAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72606301,72606301,T,-,P270959_F,GTF2IP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GTF2IP1;GTF2IP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,74129136,74129136,G,-,P270959_F,LOC101926943,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101926943,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87485540,87485540,A,-,P270959_F,SLC25A40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92932924,92932924,-,A,P270959_F,VPS50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98639905,98639905,T,-,P270959_F,SMURF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMURF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99702417,99702417,-,CACT,P270959_F,AP4M1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,AP4M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99702440,99702440,-,CT,P270959_F,AP4M1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,AP4M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99708583,99708583,-,GA,P270959_F,TAF6,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TAF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100866650,100866650,-,CC,P270959_F,ZNHIT1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ZNHIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102667757,102667757,-,A,P270959_F,FBXL13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103234986,103234986,T,-,P270959_F,RELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,112108326,112108326,T,-,P270959_F,IFRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,112555253,112555253,-,C,P270959_F,BMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,121679693,121679693,T,-,P270959_F,PTPRZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122111296,122111296,T,-,P270959_F,CADPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123267048,123267048,-,CAA,P270959_F,ASB15,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ASB15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129841940,129841940,A,-,P270959_F,TMEM209,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM209,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,135307420,135307420,T,-,P270959_F,NUP205,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP205,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137154481,137154481,-,T,P270959_F,DGKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138279228,138279228,A,-,P270959_F,SVOPL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SVOPL,NM_001331192:c.*127delT;NM_174959:c.*127delT;NM_001139456:c.*127delT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138595836,138595836,A,-,P270959_F,KIAA1549,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1549,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141831197,141831197,-,A,P270959_F,MGAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143091747,143091747,-,CA,P270959_F,EPHA1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EPHA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,148718364,148718364,-,CT,P270959_F,PDIA4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PDIA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,149525603,149525603,-,G,P270959_F,SSPO,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SSPO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150715296,150715312,CAGACAGACCCTCCGCG,-,P270959_F,ATG9B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATG9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151902166,151902166,-,T,P270959_F,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151948090,151948090,T,-,P270959_F,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157023759,157023759,-,T,P270959_F,UBE3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11659389,11659389,-,G,P270959_F,FDFT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FDFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12246087,12246087,-,A,P270959_F,FAM66A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM66A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17447282,17447282,T,-,P270959_F,PDGFRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDGFRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,24348426,24348426,T,-,P270959_F,LOC101929294,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929294;LOC101929315,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27605835,27605835,-,T,P270959_F,CCDC25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,28707622,28707622,-,A,P270959_F,INTS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,28827548,28827548,-,T,P270959_F,HMBOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMBOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,28867041,28867042,TT,-,P270959_F,HMBOX1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HMBOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,52740111,52740111,A,-,P270959_F,PCMTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCMTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,61178677,61178677,T,-,P270959_F,CA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,69699867,69699867,A,-,P270959_F,C8orf34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C8orf34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,73926356,73926357,GT,-,P270959_F,TERF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TERF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82727640,82727640,-,A,P270959_F,SNX16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,91638133,91638133,-,A,P270959_F,TMEM64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,98787734,98787734,A,-,P270959_F,LAPTM4B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LAPTM4B,dist=282,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104210404,104210404,-,T,P270959_F,BAALC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAALC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125568182,125568182,-,G,P270959_F,MTSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142175598,142175598,T,-,P270959_F,DENND3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,277043,277044,CA,-,P270959_F,DOCK8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DOCK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,15469133,15469133,A,-,P270959_F,PSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,21967163,21967163,A,-,P270959_F,CDKN2A-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CDKN2A-DT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33311295,33311295,T,-,P270959_F,NFX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36581747,36581747,T,-,P270959_F,MELK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MELK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36589411,36589411,-,T,P270959_F,MELK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MELK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,77457274,77457274,-,A,P270959_F,TRPM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,78794417,78794417,A,-,P270959_F,PCSK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99220929,99220929,-,GG,P270959_F,HABP4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,HABP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111923316,111923316,-,T,P270959_F,FRRS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRRS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130529135,130529135,-,A,P270959_F,SH2D3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2D3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131094280,131094280,T,-,P270959_F,COQ4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131761366,131761367,AG,-,P270959_F,NUP188,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NUP188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138363435,138363435,-,C,P270959_F,PPP1R26-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PPP1R26-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140968697,140968697,T,-,P270959_F,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5244456,5244456,-,T,P270959_F,AKR1C4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1C4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5762766,5762766,-,T,P270959_F,TASOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TASOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6059785,6059785,T,-,P270959_F,IL2RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL2RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6265814,6265815,AG,-,P270959_F,PFKFB3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PFKFB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,8017009,8017009,-,G,P270959_F,TAF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,12142029,12142030,AA,-,P270959_F,DHTKD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DHTKD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13343858,13343859,AA,-,P270959_F,PHYH,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,PHYH;SEPHS1,dist=1728;dist=15570,NA,NA,NA,NA,NA,NA,NA,NA
chr10,24884780,24884780,A,-,P270959_F,ARHGAP21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33496677,33496677,A,-,P270959_F,NRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50530449,50530449,A,-,P270959_F,C10orf71,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C10orf71,NM_001135196:c.-142del-,NA,NA,NA,NA,NA,NA,NA,NA
chr10,51537112,51537112,-,A,P270959_F,TIMM23B-AGAP6,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TIMM23B-AGAP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70206007,70206007,-,G,P270959_F,DNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70669943,70669943,A,-,P270959_F,DDX50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71851355,71851355,-,G,P270959_F,H2AFY2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,H2AFY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,74653469,74653469,A,-,P270959_F,OIT3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OIT3,dist=28,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94250374,94250374,A,-,P270959_F,IDE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96109750,96109750,-,AG,P270959_F,NOC3L,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NOC3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,101486597,101486598,CA,-,P270959_F,COX15,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COX15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102055749,102055749,C,-,P270959_F,PKD2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104213838,104213838,-,G,P270959_F,RPARP-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RPARP-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104238623,104238627,GGTGT,-,P270959_F,ACTR1A,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,ACTR1A,dist=359,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115662216,115662216,A,-,P270959_F,NHLRC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NHLRC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,116608351,116608351,T,-,P270959_F,FAM160B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM160B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118236576,118236576,T,-,P270959_F,PNLIPRP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNLIPRP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118704376,118704376,-,G,P270959_F,SHTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,120876883,120876883,-,A,P270959_F,DENND10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124596659,124596659,T,-,P270959_F,FAM24B-CUZD1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM24B-CUZD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126187386,126187386,C,-,P270959_F,LHPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LHPP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134726120,134726120,T,-,P270959_F,CFAP46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,654400,654400,-,AG,P270959_F,DEAF1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DEAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,687732,687732,-,G,P270959_F,DEAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,758778,758778,A,-,P270959_F,TALDO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TALDO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1874152,1874152,T,-,P270959_F,LSP1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LSP1,dist=162,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6500929,6500929,G,-,P270959_F,ARFIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18557655,18557655,-,G,P270959_F,UEVLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UEVLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,19187827,19187827,-,T,P270959_F,ZDHHC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,30932783,30932783,T,-,P270959_F,DCDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,36397656,36397656,T,-,P270959_F,PRR5L,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PRR5L,NM_001160168:c.-51del-;NM_024841:c.-25016del-,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46666873,46666873,T,-,P270959_F,ATG13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47181327,47181327,-,A,P270959_F,C11orf49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47181338,47181339,CT,-,P270959_F,C11orf49,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C11orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47364876,47364877,GA,-,P270959_F,MYBPC3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49196556,49196556,A,-,P270959_F,FOLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59611619,59611619,-,T,P270959_F,CBLIF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLIF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64806929,64806929,-,AA,P270959_F,ARL2-SNX15,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,ARL2-SNX15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65803119,65803121,GAA,-,P270959_F,CATSPER1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,CATSPER1;GAL3ST3,dist=9169;dist=5115,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68547986,68547987,AG,-,P270959_F,CPT1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CPT1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68837713,68837713,G,-,P270959_F,TPCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68837728,68837729,AA,-,P270959_F,TPCN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70268594,70268594,T,-,P270959_F,CTTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71155779,71155779,A,-,P270959_F,DHCR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHCR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71928304,71928304,-,GT,P270959_F,FOLR2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FOLR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76874149,76874149,-,AT,P270959_F,MYO7A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MYO7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,92705614,92705614,T,-,P270959_F,MTNR1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTNR1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,99942594,99942594,A,-,P270959_F,CNTN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107940724,107940724,T,-,P270959_F,CUL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,112952346,112952346,-,C,P270959_F,NCAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117241635,117241635,A,-,P270959_F,CEP164,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP164,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118380008,118380008,A,-,P270959_F,KMT2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118629260,118629260,G,-,P270959_F,DDX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119149585,119149585,T,-,P270959_F,CBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121476095,121476095,T,-,P270959_F,SORL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,128995579,128995579,T,-,P270959_F,ARHGAP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134072805,134072805,A,-,P270959_F,NCAPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1909657,1909658,CC,-,P270959_F,CACNA2D4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CACNA2D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,4645162,4645162,A,-,P270959_F,C12orf4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9455442,9455442,-,A,P270959_F,LOC642846,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC642846,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9581538,9581538,A,-,P270959_F,DDX12P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DDX12P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9581578,9581578,-,A,P270959_F,DDX12P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DDX12P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,12277298,12277298,-,C,P270959_F,LRP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15673097,15673098,CA,-,P270959_F,PTPRO,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27110742,27110742,T,-,P270959_F,FGFR1OP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGFR1OP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31246404,31246404,-,T,P270959_F,DDX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,32996105,32996105,A,-,P270959_F,PKP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46757462,46757462,T,-,P270959_F,SLC38A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49397292,49397292,C,-,P270959_F,DDN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DDN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49880068,49880068,C,-,P270959_F,SPATS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50149602,50149602,-,C,P270959_F,TMBIM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMBIM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50754722,50754722,A,-,P270959_F,FAM186A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM186A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56826713,56826713,-,G,P270959_F,TIMELESS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMELESS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57960776,57960776,T,-,P270959_F,KIF5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58142723,58142724,AG,-,P270959_F,TSPAN31,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,TSPAN31,NM_005981:c.*1650_*1651delAG;NM_001330169:c.*1650_*1651delAG;NM_001330168:c.*1650_*1651delAG,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64838770,64838770,-,A,P270959_F,XPOT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPOT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,89992558,89992559,AG,-,P270959_F,ATP2B1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP2B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,91545279,91545279,T,-,P270959_F,DCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,93289177,93289177,-,GG,P270959_F,EEA1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EEA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94620767,94620767,C,-,P270959_F,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96284755,96284755,A,-,P270959_F,CCDC38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96677226,96677228,TTT,-,P270959_F,CDK17,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDK17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,97159023,97159023,-,A,P270959_F,CFAP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109636995,109636995,A,-,P270959_F,ACACB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111100595,111100595,C,-,P270959_F,HVCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HVCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113645152,113645152,-,A,P270959_F,IQCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121202941,121202942,AA,-,P270959_F,SPPL3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPPL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122758509,122758509,C,-,P270959_F,CLIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123031904,123031904,A,-,P270959_F,KNTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124102793,124102794,AG,-,P270959_F,DDX55,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DDX55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,125562495,125562495,T,-,P270959_F,AACS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AACS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132539501,132539501,T,-,P270959_F,EP400,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EP400,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133372345,133372345,A,-,P270959_F,GOLGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21148462,21148462,-,AT,P270959_F,IFT88,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,IFT88,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24460052,24460052,A,-,P270959_F,MIPEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIPEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25416104,25416104,-,A,P270959_F,RNF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,29238622,29238622,-,T,P270959_F,POMP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POMP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,47408903,47408903,T,-,P270959_F,HTR2A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HTR2A,NM_000621:c.*69delA;NM_001165947:c.*69delA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,48954282,48954282,-,T,P270959_F,RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49089621,49089621,T,-,P270959_F,RCBTB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCBTB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49924866,49924866,A,-,P270959_F,CAB39L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAB39L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50116015,50116015,-,A,P270959_F,RCBTB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCBTB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,51397766,51397766,-,T,P270959_F,DLEU7-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DLEU7-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52509214,52509214,T,-,P270959_F,ATP7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52673780,52673780,-,G,P270959_F,NEK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52673806,52673809,AAAC,-,P270959_F,NEK5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NEK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95673940,95673940,-,A,P270959_F,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95696129,95696129,A,-,P270959_F,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99886678,99886679,AG,-,P270959_F,UBAC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99970256,99970256,-,T,P270959_F,UBAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,100181682,100181682,-,T,P270959_F,TM9SF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM9SF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,115012591,115012591,T,-,P270959_F,CDC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24512973,24512973,G,-,P270959_F,DHRS4L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS4L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31127177,31127177,A,-,P270959_F,SCFD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCFD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31581604,31581604,A,-,P270959_F,HECTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39591166,39591166,-,C,P270959_F,GEMIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEMIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50099873,50099873,-,AG,P270959_F,DNAAF2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DNAAF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50300780,50300780,-,T,P270959_F,NEMF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEMF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53347722,53347722,A,-,P270959_F,FERMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FERMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65488597,65488598,TA,-,P270959_F,CHURC1-FNTB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CHURC1-FNTB;FNTB;MAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73360711,73360711,T,-,P270959_F,DPF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75503267,75503267,-,G,P270959_F,MLH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76173953,76173953,T,-,P270959_F,TTLL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95578449,95578449,T,-,P270959_F,DICER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DICER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96179118,96179118,-,A,P270959_F,TCL1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCL1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104515928,104515928,T,-,P270959_F,TDRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,106385208,106385217,TTCAGTGGGG,-,P270959_F,FAM30A,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FAM30A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25219940,25219941,TG,-,P270959_F,SNHG14,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25219989,25219991,AGA,-,P270959_F,SNHG14,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25970975,25970975,-,G,P270959_F,ATP10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34168208,34168208,A,-,P270959_F,AVEN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AVEN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40556052,40556053,AG,-,P270959_F,BUB1B-PAK6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BUB1B-PAK6;PAK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40939055,40939057,AAA,-,P270959_F,KNL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41536140,41536140,-,G,P270959_F,CHP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41571383,41571383,-,G,P270959_F,CHP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42523219,42523219,A,-,P270959_F,TMEM87A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM87A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42677730,42677731,AG,-,P270959_F,CAPN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50935485,50935485,A,-,P270959_F,TRPM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,55789794,55789794,A,-,P270959_F,DNAAF4-CCPG1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNAAF4-CCPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59972354,59972354,T,-,P270959_F,BNIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62201334,62201334,A,-,P270959_F,VPS13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72324963,72324963,A,-,P270959_F,MYO9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72874533,72874533,T,-,P270959_F,ARIH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,73545705,73545705,A,-,P270959_F,NEO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74005247,74005247,T,-,P270959_F,CD276,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD276,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,76074556,76074569,CAGGTGGCCAGGAG,-,P270959_F,MIR4313,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,MIR4313;UBE2Q2,dist=19900;dist=61219,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78337413,78337413,-,A,P270959_F,TBC1D2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81193359,81193359,A,-,P270959_F,CEMIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEMIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,89728843,89728843,A,-,P270959_F,ABHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,89848241,89848242,AG,-,P270959_F,FANCI,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FANCI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90126219,90126219,T,-,P270959_F,TICRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TICRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,100345137,100345137,A,-,P270959_F,DNM1P46,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNM1P46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102296116,102296116,-,TCT,P270959_F,LOC100128108,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,LOC100128108;OR4F6,dist=9043;dist=49807,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1492151,1492151,-,CA,P270959_F,CCDC154,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CCDC154,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1695355,1695355,T,-,P270959_F,CRAMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRAMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19309890,19309890,A,-,P270959_F,CLEC19A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC19A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22145551,22145551,-,G,P270959_F,VWA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24225933,24225933,-,T,P270959_F,PRKCB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31151483,31151483,-,C,P270959_F,PRSS36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58610252,58610252,G,-,P270959_F,CNOT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67006145,67006147,ATC,-,P270959_F,CES3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CES3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67854639,67854639,-,CC,P270959_F,TSNAXIP1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TSNAXIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69385404,69385404,A,-,P270959_F,TMED6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMED6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70531988,70531988,T,-,P270959_F,COG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81892038,81892038,G,-,P270959_F,PLCG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84094451,84094451,T,-,P270959_F,MBTPS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBTPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89754096,89754096,-,A,P270959_F,CDK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89785357,89785358,AG,-,P270959_F,VPS9D1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VPS9D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89785363,89785363,-,C,P270959_F,VPS9D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS9D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1578302,1578302,-,AG,P270959_F,PRPF8,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1581778,1581778,A,-,P270959_F,PRPF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4784194,4784194,-,A,P270959_F,MINK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MINK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4906147,4906147,C,-,P270959_F,KIF1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7735809,7735809,A,-,P270959_F,DNAH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8791091,8791092,CC,-,P270959_F,PIK3R5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIK3R5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8812647,8812647,-,C,P270959_F,PIK3R5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3R5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9531845,9531845,-,C,P270959_F,CFAP52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10553522,10553522,G,-,P270959_F,MYH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12028819,12028819,A,-,P270959_F,MAP2K4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15343419,15343419,A,-,P270959_F,CDRT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDRT4;TVP23C-CDRT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17088887,17088887,-,TCCT,P270959_F,MPRIP,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,MPRIP,NM_001364716:c.*679_*680insTCCT;NM_015134:c.*679_*680insTCCT;NM_201274:c.*781_*782insTCCT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26349093,26349093,-,A,P270959_F,LINC01992,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01992;NLK,dist=30360;dist=20610,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26716743,26716744,AA,-,P270959_F,SARM1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SARM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26888329,26888329,A,-,P270959_F,PIGS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26889686,26889687,AA,-,P270959_F,PIGS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIGS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26916121,26916121,T,-,P270959_F,SPAG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27816600,27816600,A,-,P270959_F,TAOK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843721,29843721,-,AA,P270959_F,RAB11FIP4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843745,29843745,-,A,P270959_F,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30222050,30222050,A,-,P270959_F,UTP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30687600,30687600,T,-,P270959_F,ZNF207,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF207,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,32957004,32957004,C,-,P270959_F,TMEM132E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM132E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36963346,36963346,G,-,P270959_F,CWC25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CWC25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38434212,38434213,AG,-,P270959_F,WIPF2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WIPF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39021016,39021016,A,-,P270959_F,KRT12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39033673,39033673,T,-,P270959_F,KRT20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39776817,39776817,-,A,P270959_F,KRT17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40039824,40039824,-,TTTGT,P270959_F,ACLY,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ACLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40135410,40135410,G,-,P270959_F,DNAJC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40836848,40836848,-,C,P270959_F,CNTNAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTNAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40847199,40847199,A,-,P270959_F,CNTNAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTNAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43590674,43590674,-,A,P270959_F,LRRC37A4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LRRC37A4P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,54925480,54925480,-,AT,P270959_F,DGKE,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DGKE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56589581,56589582,AA,-,P270959_F,MTMR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MTMR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57937793,57937793,A,-,P270959_F,TUBD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58013811,58013811,T,-,P270959_F,RPS6KB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60483826,60483826,-,T,P270959_F,EFCAB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61888619,61888619,A,-,P270959_F,DDX42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67077115,67077115,-,A,P270959_F,ABCA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72773841,72773842,CT,-,P270959_F,TMEM104,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMEM104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74772723,74772723,-,TTA,P270959_F,MFSD11,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MFSD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80786380,80786380,-,C,P270959_F,TBCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14251541,14251541,A,-,P270959_F,ANKRD20A5P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANKRD20A5P;CYP4F35P,dist=24492;dist=85881,NA,NA,NA,NA,NA,NA,NA,NA
chr18,33723066,33723066,T,-,P270959_F,ELP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,60491336,60491336,-,C,P270959_F,PHLPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,72234403,72234403,-,G,P270959_F,CNDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,72516096,72516096,T,-,P270959_F,ZNF407,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF407,NM_001146190:c.*71delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1044481,1044482,AG,-,P270959_F,ABCA7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABCA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1475427,1475427,-,C,P270959_F,C19orf25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1799742,1799742,A,-,P270959_F,ATP8B3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4311663,4311663,A,-,P270959_F,FSD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4896949,4896949,T,-,P270959_F,ARRDC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARRDC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5733701,5733701,-,A,P270959_F,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5748931,5748931,A,-,P270959_F,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5775383,5775383,-,T,P270959_F,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6469736,6469736,T,-,P270959_F,DENND1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6760564,6760564,-,TC,P270959_F,SH2D3A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SH2D3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7537761,7537762,TT,-,P270959_F,ARHGEF18,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,ARHGEF18,dist=397,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7696041,7696041,C,-,P270959_F,PET100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PET100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8152604,8152605,TC,-,P270959_F,FBN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8587141,8587141,-,AG,P270959_F,MYO1F,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MYO1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9579640,9579640,-,GG,P270959_F,ZNF560,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ZNF560,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11213224,11213225,CA,-,P270959_F,LDLR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LDLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11459199,11459200,AA,-,P270959_F,CCDC159,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCDC159,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11495173,11495173,-,T,P270959_F,EPOR,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,EPOR,dist=183,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12128614,12128614,T,-,P270959_F,ZNF433-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF433-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14203303,14203303,-,G,P270959_F,PRKACA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRKACA,NM_001304349:c.*620_*621insC;NM_002730:c.*620_*621insC;NM_207518:c.*620_*621insC,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14974520,14974520,-,GG,P270959_F,OR7A10,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,OR7A10;OR7A17,dist=21831;dist=16718,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16596143,16596143,T,-,P270959_F,CALR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,20727377,20727377,-,C,P270959_F,ZNF737,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF737,NM_001159293:c.*20_*21insG,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21561409,21561409,T,-,P270959_F,ZNF738,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF738,NM_001355239:c.*1124delT;NM_001355241:c.*2438delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,24103010,24103010,A,-,P270959_F,ZNF726,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF726,NM_001348689:c.*118delA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37383687,37383687,A,-,P270959_F,ZNF829,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF829,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37859991,37859994,AGCA,-,P270959_F,ZNF875,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,ZNF875;ZNF527,dist=4633;dist=2007,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39823533,39823534,AA,-,P270959_F,GMFG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GMFG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39870487,39870487,-,G,P270959_F,SAMD4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMD4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41597959,41597959,A,-,P270959_F,CYP2A13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2A13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41808358,41808359,AG,-,P270959_F,HNRNPUL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HNRNPUL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42933186,42933186,-,T,P270959_F,LIPE-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LIPE-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44160387,44160388,AG,-,P270959_F,PLAUR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLAUR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52399938,52399938,T,-,P270959_F,ZNF649-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF649-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54545085,54545085,A,-,P270959_F,VSTM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55451977,55451978,TT,-,P270959_F,NLRP7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58374333,58374333,-,T,P270959_F,ZNF587,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF587,NM_001204817:c.*2825_*2826insT;NM_032828:c.*2825_*2826insT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58927936,58927936,-,T,P270959_F,ZNF584,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF584,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,6069505,6069506,AG,-,P270959_F,FERMT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FERMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,9370506,9370506,-,T,P270959_F,PLCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,13695825,13695825,A,-,P270959_F,ESF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30354545,30354545,G,-,P270959_F,TPX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31466363,31466367,TCGGA,-,P270959_F,EFCAB8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33037410,33037410,T,-,P270959_F,ITCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33346833,33346833,T,-,P270959_F,NCOA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33632235,33632235,-,A,P270959_F,TRPC4AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC4AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33758897,33758897,-,GGGT,P270959_F,MMP24-AS1-EDEM2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MMP24-AS1-EDEM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33896778,33896778,-,A,P270959_F,UQCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UQCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34269624,34269624,A,-,P270959_F,NFS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,36625458,36625458,A,-,P270959_F,TTI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,44429634,44429634,A,-,P270959_F,DNTTIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNTTIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45797750,45797751,TC,-,P270959_F,EYA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EYA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45985096,45985096,A,-,P270959_F,ZMYND8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYND8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47292578,47292578,A,-,P270959_F,PREX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47614631,47614632,AA,-,P270959_F,ARFGEF2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARFGEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56838587,56838587,-,A,P270959_F,PPP4R1L,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PPP4R1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34878455,34878455,T,-,P270959_F,GART,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GART,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37572394,37572394,-,TGTTGTTT,P270959_F,DOP1B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DOP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37572397,37572400,ATTT,-,P270959_F,DOP1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DOP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38131190,38131190,A,-,P270959_F,HLCS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLCS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38588686,38588686,T,-,P270959_F,DSCR9,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DSCR9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44195285,44195285,-,AG,P270959_F,PDE9A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PDE9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47572804,47572804,-,G,P270959_F,FTCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FTCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,48064204,48064204,T,-,P270959_F,PRMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18072176,18072176,-,CA,P270959_F,SLC25A18,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SLC25A18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20739080,20739080,-,A,P270959_F,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=32296;dist=9325,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20739112,20739113,CT,-,P270959_F,FAM230G,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,FAM230G;ZNF74,dist=32328;dist=9292,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21797102,21797102,G,-,P270959_F,HIC2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HIC2,NM_015094:c.-19del-,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26886974,26886974,T,-,P270959_F,SRRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31836989,31836989,C,-,P270959_F,EIF4ENIF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4ENIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32815492,32815492,-,A,P270959_F,BPIFC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35726205,35726205,-,GG,P270959_F,TOM1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35726260,35726260,-,CGAGA,P270959_F,TOM1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38246580,38246581,AG,-,P270959_F,EIF3L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EIF3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39417346,39417346,-,AG,P270959_F,APOBEC3D,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,APOBEC3D,NM_001363781:c.-179_-178insAG;NM_152426:c.-179_-178insAG,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39968991,39968991,-,C,P270959_F,CACNA1I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41228094,41228094,-,GG,P270959_F,ST13,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ST13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43459706,43459707,AG,-,P270959_F,TTLL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45745449,45745449,-,CA,P270959_F,SMC1B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SMC1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16716908,16716909,AG,-,P270959_F,CTPS2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19027969,19027969,-,C,P270959_F,ADGRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24745029,24745029,T,-,P270959_F,POLA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,35944078,35944078,T,-,P270959_F,CFAP47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,38420766,38420768,GCC,-,P270959_F,TSPAN7,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TSPAN7,NM_004615:c.-34_-32del-,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47755380,47755380,T,-,P270959_F,ZNF81,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF81,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47848050,47848050,-,T,P270959_F,ZNF182,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF182,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70340693,70340693,-,AA,P270959_F,MED12,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MED12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70361420,70361421,CT,-,P270959_F,MED12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MED12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70613115,70613126,TATATTTATATT,-,P270959_F,TAF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73045717,73045717,-,A,P270959_F,TSIX,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TSIX;XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,74332585,74332585,-,TT,P270959_F,ABCB7,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ABCB7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,77264500,77264501,GA,-,P270959_F,ATP7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,77393384,77393384,A,-,P270959_F,TAF9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,101034989,101034989,A,-,P270959_F,ARMCX2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ARMCX2;NXF5,dist=120154;dist=52096,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106028280,106028280,T,-,P270959_F,RNF128,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,119428071,119428071,-,CT,P270959_F,TMEM255A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TMEM255A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,122753440,122753440,A,-,P270959_F,THOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,122754874,122754874,-,A,P270959_F,THOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129171648,129171648,-,CC,P270959_F,BCORL1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,BCORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129483210,129483210,T,-,P270959_F,SLC25A14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129790756,129790756,T,-,P270959_F,ENOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133948708,133948712,AACAG,-,P270959_F,FAM122C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM122C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,147011445,147011445,-,T,P270959_F,FMR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,148713286,148713288,TCC,-,P270959_F,TMEM185A,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TMEM185A,NM_032508:c.-23_-25delGGA;NM_001174092:c.-23_-25delGGA;NM_001282302:c.-23_-25delGGA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153186698,153186698,G,-,P270959_F,ARHGAP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1356387,1356387,-,G,P270959_S,ANKRD65,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ANKRD65,NM_001243535:exon2:UTR5;NM_001243536:exon2:UTR5;NM_001145210:exon2:UTR5,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1588745,1588747,GCG,-,P270959_S,CDK11B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1588808,1588808,-,A,P270959_S,CDK11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1663681,1663682,AA,-,P270959_S,SLC35E2A,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,SLC35E2A,NM_182838:c.*213_*212delTT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6420717,6420717,-,C,P270959_S,ACOT7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ACOT7,NM_181865:c.-6_-5insG,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10511331,10511331,T,-,P270959_S,CENPS-CORT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPS-CORT;CORT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11147761,11147761,-,A,P270959_S,EXOSC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11150816,11150816,-,T,P270959_S,EXOSC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11886125,11886125,T,-,P270959_S,CLCN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,13942327,13942327,A,-,P270959_S,PDPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15701356,15701356,G,-,P270959_S,FHAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17566323,17566324,CC,-,P270959_S,PADI1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PADI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20411301,20411301,T,-,P270959_S,PLA2G5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21074152,21074152,A,-,P270959_S,HP1BP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HP1BP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21183820,21183821,TG,-,P270959_S,EIF4G3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EIF4G3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21268829,21268829,-,A,P270959_S,EIF4G3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4G3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23337886,23337886,T,-,P270959_S,TEX46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25780889,25780889,-,TG,P270959_S,MACO1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MACO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26357178,26357178,-,C,P270959_S,EXTL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28573294,28573294,A,-,P270959_S,ATP5IF1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ATP5IF1;SESN2,dist=8678;dist=12735,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31732678,31732678,A,-,P270959_S,SNRNP40,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNRNP40,NM_004814:c.*241delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36316400,36316401,AC,-,P270959_S,AGO4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AGO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36358976,36358976,A,-,P270959_S,AGO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40209651,40209651,T,-,P270959_S,PPIE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41456809,41456809,T,-,P270959_S,CTPS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,44169066,44169067,TT,-,P270959_S,KDM4A-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,KDM4A-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46509304,46509304,-,A,P270959_S,LOC110117498-PIK3R3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LOC110117498-PIK3R3;PIK3R3,NM_001303427:c.*40_*41insT;NM_001303429:c.*40_*41insT;NM_001303428:c.*40_*41insT;NM_001328648:c.*40_*41insT;NM_003629:c.*40_*41insT;NM_001328653:c.*40_*41insT;NM_001328654:c.*40_*41insT;NM_001328652:c.*40_*41insT;NM_001328651:c.*40_*41insT;NM_001328649:c.*40_*41insT;NM_001328650:c.*40_*41insT;NM_001114172:c.*40_*41insT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54502396,54502396,A,-,P270959_S,TMEM59,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM59,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62954373,62954373,A,-,P270959_S,DOCK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65234217,65234217,T,-,P270959_S,RAVER2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAVER2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67816907,67816907,-,T,P270959_S,IL12RB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL12RB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,70728658,70728658,-,AG,P270959_S,ANKRD13C,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ANKRD13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,75606525,75606525,A,-,P270959_S,LHX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LHX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78104939,78104939,A,-,P270959_S,ZZZ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZZ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78245132,78245133,TT,-,P270959_S,MIGA1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MIGA1,dist=176,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78279611,78279611,-,T,P270959_S,MIGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92108275,92108275,A,-,P270959_S,CDC7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CDC7;TGFBR3,dist=116954;dist=37625,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94574343,94574343,T,-,P270959_S,ABCA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,101456193,101456193,A,-,P270959_S,DPH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,104077272,104077272,T,-,P270959_S,RNPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109883200,109883200,A,-,P270959_S,SORT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,117911178,117911178,-,T,P270959_S,MAN1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118502088,118502088,T,-,P270959_S,WDR3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WDR3,NM_006784:c.*18delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118526333,118526333,-,TA,P270959_S,SPAG17,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SPAG17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145368305,145368305,T,-,P270959_S,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145811324,145811326,CCT,-,P270959_S,GPR89A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GPR89A;NBPF10;NBPF19;NBPF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145816543,145816543,T,-,P270959_S,GPR89A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR89A;NBPF10;NBPF19;NBPF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151196703,151196703,T,-,P270959_S,PIP5K1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP5K1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154185145,154185145,-,T,P270959_S,C1orf43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155701056,155701057,AA,-,P270959_S,DAP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158298680,158298680,A,-,P270959_S,CD1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160722997,160722997,-,A,P270959_S,SLAMF7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLAMF7,NM_001282589:c.*30_*31insA;NM_001282588:c.*43_*44insA;NM_001282591:c.*30_*31insA;NM_001282595:c.*30_*31insA;NM_001282594:c.*30_*31insA;NM_001282593:c.*43_*44insA;NM_001282590:c.*30_*31insA;NM_001282596:c.*43_*44insA;NM_001282592:c.*43_*44insA;NM_021181:c.*30_*31insA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161173096,161173096,-,A,P270959_S,NDUFS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,163313696,163313696,A,-,P270959_S,NUF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169256426,169256426,A,-,P270959_S,NME7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169366387,169366387,T,-,P270959_S,CCDC181,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC181,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,172569119,172569119,-,T,P270959_S,SUCO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUCO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176012467,176012467,A,-,P270959_S,COP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179086420,179086420,A,-,P270959_S,ABL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,180803993,180803993,T,-,P270959_S,XPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183602139,183602139,T,-,P270959_S,ARPC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARPC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,185269101,185269101,A,-,P270959_S,IVNS1ABP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IVNS1ABP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,185992421,185992422,TT,-,P270959_S,HMCN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HMCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196879302,196879302,A,-,P270959_S,CFHR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFHR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,197901207,197901207,A,-,P270959_S,LHX9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LHX9,NM_020204:c.*2818delA;NM_001370213:c.*102delA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,198711171,198711171,A,-,P270959_S,PTPRC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201837934,201837934,-,GT,P270959_S,IPO9,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,IPO9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204512100,204512100,T,-,P270959_S,MDM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,215749406,215749406,-,T,P270959_S,KCTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCTD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,215844714,215844714,-,A,P270959_S,USH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,216880577,216880577,T,-,P270959_S,ESRRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESRRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220869875,220869875,T,-,P270959_S,C1orf115,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf115,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,222753051,222753051,A,-,P270959_S,TAF1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223168206,223168206,T,-,P270959_S,DISP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DISP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223980973,223980973,-,A,P270959_S,TP53BP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TP53BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225445590,225445590,A,-,P270959_S,DNAH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225607376,225607376,A,-,P270959_S,LBR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LBR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225707272,225707272,A,-,P270959_S,ENAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228194767,228194767,-,C,P270959_S,WNT3A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,WNT3A,NM_033131:c.-63_-62insC,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230798865,230798865,T,-,P270959_S,COG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,230828979,230828979,-,C,P270959_S,COG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,232601263,232601263,-,AC,P270959_S,SIPA1L2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SIPA1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236393399,236393399,-,T,P270959_S,ERO1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236744721,236744721,A,-,P270959_S,HEATR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236759063,236759063,A,-,P270959_S,HEATR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,245180640,245180640,T,-,P270959_S,EFCAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247130091,247130091,-,A,P270959_S,ZNF670-ZNF695,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF670-ZNF695,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,8917111,8917111,A,-,P270959_S,KIDINS220,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIDINS220,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10937783,10937783,A,-,P270959_S,PDIA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDIA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,12864738,12864738,T,-,P270959_S,TRIB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20130971,20130971,T,-,P270959_S,WDR35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20518224,20518224,A,-,P270959_S,PUM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24306108,24306108,T,-,P270959_S,FAM228B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM228B;TP53I3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24493518,24493518,A,-,P270959_S,ITSN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITSN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24521686,24521686,-,A,P270959_S,ITSN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITSN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26484081,26484081,C,-,P270959_S,HADHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HADHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37318902,37318902,A,-,P270959_S,GPATCH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37505135,37505135,A,-,P270959_S,PRKD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38526334,38526334,T,-,P270959_S,ATL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38973132,38973132,A,-,P270959_S,SRSF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRSF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39181775,39181776,TT,-,P270959_S,ARHGEF33,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGEF33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44942370,44942370,T,-,P270959_S,CAMKMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,63220993,63220993,T,-,P270959_S,EHBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,64323752,64323752,A,-,P270959_S,PELI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PELI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,65341287,65341295,TATACTGTT,-,P270959_S,RAB1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RAB1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,68415930,68415930,A,-,P270959_S,PPP3R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP3R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80101516,80101516,A,-,P270959_S,CTNNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85536767,85536767,-,A,P270959_S,TCF7L1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TCF7L1,NM_031283:c.*182_*183insA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85858144,85858144,-,T,P270959_S,USP39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86839484,86839484,A,-,P270959_S,RNF103,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF103;RNF103-CHMP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,108479623,108479625,TTT,-,P270959_S,RGPD4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RGPD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111395467,111395467,-,A,P270959_S,BUB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BUB1,NM_004336:c.*73_*74insT;NM_001278617:c.*73_*74insT;NM_001278616:c.*73_*74insT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,112621499,112621499,A,-,P270959_S,ANAPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANAPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,112854564,112854564,T,-,P270959_S,TMEM87B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM87B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113418188,113418188,-,T,P270959_S,SLC20A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC20A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120831655,120831655,T,-,P270959_S,EPB41L5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135694325,135694325,A,-,P270959_S,CCNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,141625631,141625631,A,-,P270959_S,LRP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,149835521,149835521,-,T,P270959_S,KIF5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,151343979,151343979,A,-,P270959_S,RND3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RND3,NM_001254738:c.-48delT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158400931,158400931,A,-,P270959_S,ACVR1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACVR1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162862328,162862328,-,A,P270959_S,DPP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,163078035,163078035,A,-,P270959_S,FAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,163082999,163082999,A,-,P270959_S,FAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,167138321,167138321,A,-,P270959_S,SCN1A-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SCN1A-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,170938213,170938213,-,T,P270959_S,UBR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,173662239,173662239,T,-,P270959_S,RAPGEF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179669245,179669245,A,-,P270959_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,187490378,187490378,-,TATGTGTGTGTG,P270959_S,ITGAV,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ITGAV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,187531857,187531857,T,-,P270959_S,ITGAV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,189997647,189997647,A,-,P270959_S,COL5A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191941054,191941054,-,A,P270959_S,STAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201802761,201802761,A,-,P270959_S,ORC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201950167,201950167,T,-,P270959_S,NDUFB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,208461564,208461564,A,-,P270959_S,CREB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CREB1;METTL21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209049821,209049821,T,-,P270959_S,C2orf80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2orf80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,212495337,212495337,A,-,P270959_S,ERBB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERBB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219256332,219256332,T,-,P270959_S,SLC11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,222290624,222290624,T,-,P270959_S,EPHA4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EPHA4,NM_001363748:c.*264delA;NM_001304536:c.*124delA;NM_001304537:c.*124delA;NM_004438:c.*124delA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,227779364,227779364,A,-,P270959_S,RHBDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHBDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,227967831,227967831,A,-,P270959_S,COL4A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,230096613,230096613,-,A,P270959_S,PID1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PID1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231940296,231940296,T,-,P270959_S,PSMD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,232121160,232121160,A,-,P270959_S,ARMC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238899046,238899046,T,-,P270959_S,UBE2F-SCLY,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,UBE2F-SCLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238949870,238949873,TCAC,-,P270959_S,UBE2F-SCLY,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,UBE2F-SCLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10081677,10081677,A,-,P270959_S,FANCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12943084,12943084,T,-,P270959_S,IQSEC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQSEC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,18082840,18082841,TT,-,P270959_S,LOC339862,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC339862,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,21606028,21606028,T,-,P270959_S,ZNF385D-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF385D-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27478843,27478843,A,-,P270959_S,SLC4A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33065729,33065729,T,-,P270959_S,GLB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33626187,33626188,AA,-,P270959_S,CLASP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33725815,33725815,A,-,P270959_S,CLASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,35779871,35779871,-,T,P270959_S,ARPP21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARPP21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37100167,37100167,A,-,P270959_S,LRRFIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,39186123,39186123,A,-,P270959_S,CSRNP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSRNP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,40503083,40503083,-,T,P270959_S,RPL14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44399953,44399953,-,A,P270959_S,TCAIM,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TCAIM,NM_001029840:c.*197_*198insA;NM_001029839:c.*197_*198insA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47059030,47059030,A,-,P270959_S,SETD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47103627,47103627,-,A,P270959_S,SETD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49828912,49828912,A,-,P270959_S,CDHR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52621587,52621588,TT,-,P270959_S,PBRM1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PBRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52771825,52771825,T,-,P270959_S,NEK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52833559,52833559,T,-,P270959_S,ITIH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58242142,58242142,-,T,P270959_S,ABHD6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABHD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,62153615,62153615,-,C,P270959_S,PTPRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,66312334,66312334,A,-,P270959_S,SLC25A26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,71007463,71007463,T,-,P270959_S,FOXP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FOXP1,NM_001244813:c.*935delA;NM_001244812:c.*935delA;NM_001244808:c.*935delA;NM_001349342:c.*935delA;NM_001349341:c.*935delA;NM_001349343:c.*935delA;NM_001349344:c.*935delA;NM_001349340:c.*935delA;NM_001244814:c.*935delA;NM_001349338:c.*935delA;NM_001244815:c.*935delA;NM_001349337:c.*935delA;NM_001370548:c.*935delA;NM_001244810:c.*935delA;NM_032682:c.*935delA;NM_001244816:c.*935delA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,74350532,74350532,-,A,P270959_S,CNTN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,74411306,74411314,CTTGATTTA,-,P270959_S,CNTN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CNTN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,77542380,77542380,-,T,P270959_S,ROBO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,101177902,101177902,A,-,P270959_S,SENP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SENP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,105270851,105270851,T,-,P270959_S,ALCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,107769565,107769565,-,A,P270959_S,CD47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108182169,108182169,T,-,P270959_S,MYH15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108403019,108403019,-,G,P270959_S,DZIP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DZIP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111630628,111630628,-,T,P270959_S,PHLDB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLDB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,112732299,112732299,T,-,P270959_S,NEPRO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEPRO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113098034,113098034,-,A,P270959_S,CFAP44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113442785,113442785,A,-,P270959_S,NAA50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113655097,113655097,T,-,P270959_S,GRAMD1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,118878850,118878850,A,-,P270959_S,TEX55,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TEX55;UPK1B,dist=8547;dist=13595,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119545504,119545504,A,-,P270959_S,GSK3B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GSK3B,NM_002093:c.*131delT;NM_001146156:c.*131delT;NM_001354596:c.*131delT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121515941,121515941,T,-,P270959_S,IQCB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128292319,128292324,TCTCTC,-,P270959_S,LINC01565,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LINC01565,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,129152182,129152182,T,-,P270959_S,MBD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132424369,132424386,AGTCCTCTGAGATAGATG,-,P270959_S,NPHP3-ACAD11,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,NPHP3-ACAD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138417718,138417718,A,-,P270959_S,PIK3CB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,140678385,140678385,A,-,P270959_S,SLC25A36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142051516,142051516,-,A,P270959_S,XRN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142218138,142218138,T,-,P270959_S,ATR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148583232,148583232,T,-,P270959_S,CPA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148885780,148885780,T,-,P270959_S,HPS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,156983279,156983279,A,-,P270959_S,VEPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VEPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160395090,160395090,A,-,P270959_S,ARL14,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ARL14,NM_025047:c.-45del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,167542909,167542909,-,AGGA,P270959_S,SERPINI1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SERPINI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169525510,169525512,AAA,-,P270959_S,LRRC34,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LRRC34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,172634024,172634024,-,TTG,P270959_S,SPATA16,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SPATA16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179334935,179334935,-,T,P270959_S,NDUFB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179537829,179537829,-,C,P270959_S,PEX5L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX5L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,180322249,180322249,T,-,P270959_S,TTC14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183679575,183679575,T,-,P270959_S,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185641779,185641779,A,-,P270959_S,TRA2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRA2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186330746,186330746,T,-,P270959_S,AHSG,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,AHSG,dist=103,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186509259,186509259,A,-,P270959_S,RFC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,192078485,192078485,T,-,P270959_S,FGF12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194165561,194165561,-,A,P270959_S,ATP13A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195102591,195102591,T,-,P270959_S,ACAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196215451,196215451,-,A,P270959_S,RNF168,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF168,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196746444,196746444,A,-,P270959_S,MELTF,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MELTF,NM_033316:c.*32delT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196795255,196795255,A,-,P270959_S,DLG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5630470,5630470,-,A,P270959_S,EVC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EVC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,6050725,6050725,T,-,P270959_S,JAKMIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAKMIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,7817699,7817699,T,-,P270959_S,AFAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,23826138,23826138,A,-,P270959_S,PPARGC1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPARGC1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47916234,47916234,A,-,P270959_S,NFXL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFXL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57176965,57176965,T,-,P270959_S,KIAA1211,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1211,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,70826811,70826811,A,-,P270959_S,CSN2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CSN2,dist=82,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71895278,71895278,T,-,P270959_S,DCK,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DCK,NM_000788:c.*183delT,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73944262,73944262,A,-,P270959_S,ANKRD17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73958030,73958030,A,-,P270959_S,ANKRD17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74703249,74703249,T,-,P270959_S,CXCL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXCL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77969826,77969826,A,-,P270959_S,CCNI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79847635,79847635,A,-,P270959_S,PAQR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAQR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83740164,83740164,T,-,P270959_S,SEC31A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEC31A,NM_001318119:c.*63delA;NM_001191049:c.*63delA;NM_001077208:c.*63delA;NM_001318120:c.*63delA;NM_016211:c.*63delA;NM_001077206:c.*63delA;NM_001300745:c.*63delA;NM_001300744:c.*63delA;NM_001077207:c.*63delA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,85618002,85618002,A,-,P270959_S,WDFY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDFY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,88416023,88416023,-,A,P270959_S,SPARCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPARCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99030330,99030330,-,T,P270959_S,STPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100528155,100528155,A,-,P270959_S,MTTP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTTP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103188866,103188866,T,-,P270959_S,SLC39A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103245558,103245558,A,-,P270959_S,SLC39A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,104068856,104068856,T,-,P270959_S,CENPE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,106193654,106193655,AC,-,P270959_S,TET2-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,TET2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,109571761,109571767,CCGGGAG,-,P270959_S,OSTC,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,OSTC,NM_001267817:c.-51_-45del-;NM_021227:c.-51_-45del-;NM_001267818:c.-51_-45del-,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114176849,114176849,A,-,P270959_S,ANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119621927,119621927,A,-,P270959_S,METTL14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120107098,120107098,-,T,P270959_S,MYOZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120425830,120425830,-,A,P270959_S,PDE5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,142950187,142950187,T,-,P270959_S,INPP4B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,INPP4B,NM_001331040:c.*1094delA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,143003118,143003118,A,-,P270959_S,INPP4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,143344975,143344975,A,-,P270959_S,INPP4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,144442567,144442567,-,T,P270959_S,SMARCA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146025415,146025415,T,-,P270959_S,ABCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146031237,146031237,T,-,P270959_S,ABCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,147628706,147628706,A,-,P270959_S,TTC29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,148574961,148574961,-,A,P270959_S,PRMT9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,160189201,160189201,T,-,P270959_S,RAPGEF2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RAPGEF2,NM_014247:c.-107del-;NM_001351727:c.-107del-;NM_001351728:c.-107del-,NA,NA,NA,NA,NA,NA,NA,NA
chr4,160271269,160271269,T,-,P270959_S,RAPGEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,169325283,169325283,A,-,P270959_S,DDX60L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX60L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,175649874,175649874,A,-,P270959_S,GLRA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLRA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,184114633,184114634,TT,-,P270959_S,WWC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WWC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,13914081,13914081,-,A,P270959_S,DNAH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14290808,14290808,-,T,P270959_S,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32786466,32786466,T,-,P270959_S,NPR3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NPR3,NM_001364458:c.*15delT;NM_001204376:c.*15delT;NM_001363652:c.*15delT;NM_001364460:c.*15delT;NM_001204375:c.*15delT;NM_000908:c.*15delT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34822965,34822965,T,-,P270959_S,RAI14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAI14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36166843,36166843,C,-,P270959_S,SKP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36183774,36183774,T,-,P270959_S,SKP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SKP2,NM_001243120:c.*1641delT;NM_005983:c.*1641delT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38883913,38883913,T,-,P270959_S,OSMR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSMR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38950906,38950906,T,-,P270959_S,RICTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RICTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,38953504,38953504,A,-,P270959_S,RICTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RICTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54701448,54701448,T,-,P270959_S,MTREX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTREX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,59284181,59284181,T,-,P270959_S,PDE4D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,64838465,64838465,A,-,P270959_S,CENPK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,64880706,64880706,A,-,P270959_S,PPWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68564986,68564986,A,-,P270959_S,CDK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74872798,74872798,A,-,P270959_S,POLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75699599,75699599,T,-,P270959_S,IQGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,77745863,77745863,T,-,P270959_S,SCAMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,78373252,78373252,A,-,P270959_S,BHMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BHMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80088494,80088494,T,-,P270959_S,MSH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,83550061,83550061,T,-,P270959_S,EDIL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDIL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,86705006,86705007,TC,-,P270959_S,CCNH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCNH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94805685,94805685,-,T,P270959_S,TTC37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94842719,94842719,A,-,P270959_S,TTC37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,113822458,113822458,A,-,P270959_S,LOC101927078,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927078,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,118877530,118877530,A,-,P270959_S,HSD17B4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSD17B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122754294,122754296,TTT,-,P270959_S,CEP120,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CEP120,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,125906593,125906593,-,T,P270959_S,ALDH7A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH7A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,126156844,126156844,T,-,P270959_S,LMNB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127507343,127507343,-,T,P270959_S,SLC12A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,130857217,130857217,-,A,P270959_S,RAPGEF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131312238,131312238,A,-,P270959_S,ACSL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137537195,137537195,-,TTTA,P270959_S,CDC23,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CDC23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140803318,140803318,G,-,P270959_S,PCDHGA11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PCDHGA11,NM_032091:c.*10delG,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145524123,145524123,-,T,P270959_S,LARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145529283,145529283,A,-,P270959_S,LARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,146752675,146752675,T,-,P270959_S,STK32A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK32A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147506692,147506692,T,-,P270959_S,SPINK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPINK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,151055562,151055562,A,-,P270959_S,SPARC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPARC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,151180019,151180019,-,A,P270959_S,G3BP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,G3BP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156376466,156376467,TC,-,P270959_S,TIMD4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TIMD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,171341420,171341420,A,-,P270959_S,FBXW11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXW11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,172660509,172660509,A,-,P270959_S,NKX2-5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NKX2-5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176867657,176867658,GC,-,P270959_S,PRR7-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,PRR7-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177689524,177689524,-,G,P270959_S,COL23A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL23A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178411181,178411181,A,-,P270959_S,GRM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179150789,179150789,T,-,P270959_S,CANX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CANX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180482769,180482769,A,-,P270959_S,BTNL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTNL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,2785016,2785016,A,-,P270959_S,WRNIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WRNIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,7303910,7303910,A,-,P270959_S,SSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13597296,13597296,A,-,P270959_S,SIRT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26205347,26205347,T,-,P270959_S,HIST1H4E,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HIST1H4E,dist=98,NA,NA,NA,NA,NA,NA,NA,NA
chr6,42611937,42611937,A,-,P270959_S,UBR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47684723,47684723,A,-,P270959_S,ADGRF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57433498,57433498,A,-,P270959_S,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70459210,70459210,A,-,P270959_S,LMBRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMBRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70966422,70966422,A,-,P270959_S,COL9A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,90503767,90503767,A,-,P270959_S,MDN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,99817700,99817700,A,-,P270959_S,COQ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117073906,117073907,TA,-,P270959_S,FAM162B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM162B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123786155,123786155,A,-,P270959_S,TRDN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRDN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,134583519,134583519,T,-,P270959_S,SGK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135261363,135261363,-,A,P270959_S,ALDH8A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH8A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135754115,135754115,A,-,P270959_S,AHI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,137151126,137151126,T,-,P270959_S,PEX7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,138192325,138192325,T,-,P270959_S,TNFAIP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFAIP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144837921,144837921,T,-,P270959_S,UTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,146256316,146256316,A,-,P270959_S,SHPRH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHPRH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152539573,152539574,AA,-,P270959_S,MIR3163,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,MIR3163,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152552705,152552705,A,-,P270959_S,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152631427,152631427,A,-,P270959_S,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152673543,152673543,-,T,P270959_S,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,159294532,159294532,A,-,P270959_S,C6orf99,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C6orf99,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160184138,160184139,AC,-,P270959_S,ACAT2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ACAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168355108,168355108,T,-,P270959_S,AFDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5752519,5752519,A,-,P270959_S,RNF216,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF216,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5920395,5920395,A,-,P270959_S,OCM,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OCM,dist=34,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6470059,6470059,T,-,P270959_S,DAGLB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAGLB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20826271,20826271,A,-,P270959_S,SP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23802261,23802261,T,-,P270959_S,STK31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30058821,30058821,T,-,P270959_S,FKBP14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FKBP14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,40229113,40229114,AT,-,P270959_S,SUGCT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SUGCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44274433,44274433,G,-,P270959_S,CAMK2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMK2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,45003924,45003924,C,-,P270959_S,MYO1G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48232531,48232531,T,-,P270959_S,ABCA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48467654,48467654,A,-,P270959_S,ABCA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72606301,72606301,T,-,P270959_S,GTF2IP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GTF2IP1;GTF2IP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,74129136,74129136,G,-,P270959_S,LOC101926943,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101926943,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,79828451,79828451,T,-,P270959_S,GNAI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNAI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,80286128,80286128,A,-,P270959_S,CD36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87485540,87485540,A,-,P270959_S,SLC25A40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94181586,94181586,A,-,P270959_S,CASD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94227320,94227320,A,-,P270959_S,SGCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95442405,95442405,-,TT,P270959_S,DYNC1I1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DYNC1I1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98639905,98639905,T,-,P270959_S,SMURF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMURF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99700033,99700033,A,-,P270959_S,AP4M1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP4M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103206002,103206002,A,-,P270959_S,RELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103234986,103234986,T,-,P270959_S,RELN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107577449,107577449,T,-,P270959_S,LAMB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111936436,111936436,T,-,P270959_S,ZNF277,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF277,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,116544199,116544199,-,T,P270959_S,CAPZA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPZA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127013340,127013340,T,-,P270959_S,ZNF800,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF800,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127251733,127251733,A,-,P270959_S,PAX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129841940,129841940,A,-,P270959_S,TMEM209,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM209,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137154481,137154481,-,T,P270959_S,DGKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137170179,137170179,A,-,P270959_S,DGKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138279228,138279228,A,-,P270959_S,SVOPL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SVOPL,NM_001331192:c.*127delT;NM_174959:c.*127delT;NM_001139456:c.*127delT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138595836,138595836,A,-,P270959_S,KIAA1549,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1549,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139417095,139417095,-,T,P270959_S,HIPK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151902166,151902166,-,T,P270959_S,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151948090,151948090,T,-,P270959_S,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154002673,154002674,GC,-,P270959_S,DPP6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17447282,17447282,T,-,P270959_S,PDGFRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDGFRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22370590,22370590,A,-,P270959_S,PPP3CC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP3CC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,24348426,24348426,T,-,P270959_S,LOC101929294,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929294;LOC101929315,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,26513012,26513012,-,A,P270959_S,DPYSL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPYSL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27605835,27605835,-,T,P270959_S,CCDC25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39330917,39330918,TC,-,P270959_S,ADAM3A,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ADAM3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42042793,42042793,T,-,P270959_S,PLAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,61178677,61178677,T,-,P270959_S,CA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62555417,62555417,A,-,P270959_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,75149365,75149365,A,-,P270959_S,JPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82590928,82590928,A,-,P270959_S,IMPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82727640,82727640,-,A,P270959_S,SNX16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,90796370,90796371,AA,-,P270959_S,RIPK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,91638133,91638133,-,A,P270959_S,TMEM64,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM64,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,98703490,98703490,A,-,P270959_S,MTDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,99264978,99264978,T,-,P270959_S,NIPAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100729386,100729386,-,T,P270959_S,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104210404,104210404,-,T,P270959_S,BAALC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAALC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104922218,104922218,-,TA,P270959_S,RIMS2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104930647,104930647,T,-,P270959_S,RIMS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110505867,110505867,T,-,P270959_S,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,118811807,118811807,T,-,P270959_S,EXT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EXT1,NM_000127:c.*144delA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120770135,120770135,-,A,P270959_S,TAF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,125568182,125568182,-,G,P270959_S,MTSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,130874615,130874615,A,-,P270959_S,FAM49B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM49B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133090247,133090249,TAC,-,P270959_S,HHLA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HHLA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133935773,133935773,T,-,P270959_S,TG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141669819,141669819,T,-,P270959_S,PTK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142148488,142148488,-,T,P270959_S,DENND3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145006260,145006260,C,-,P270959_S,PLEC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,4118906,4118906,A,-,P270959_S,GLIS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLIS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,6602378,6602379,TT,-,P270959_S,GLDC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GLDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,15468118,15468118,T,-,P270959_S,PSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,15472612,15472612,A,-,P270959_S,PSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,20346391,20346392,AC,-,P270959_S,MLLT3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MLLT3,NM_001286691:c.*50_*49delGT;NM_004529:c.*50_*49delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr9,21967163,21967163,A,-,P270959_S,CDKN2A-DT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CDKN2A-DT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,21970797,21970798,AG,-,P270959_S,CDKN2A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDKN2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33311295,33311295,T,-,P270959_S,NFX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36581747,36581747,T,-,P270959_S,MELK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MELK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37186692,37186692,T,-,P270959_S,ZCCHC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,74971067,74971067,-,A,P270959_S,ZFAND5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFAND5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,77367162,77367162,-,T,P270959_S,TRPM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,80031059,80031059,-,A,P270959_S,VPS13A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,VPS13A,NM_033305:c.*137_*138insA;NM_001018037:c.*137_*138insA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,82269146,82269148,TTT,-,P270959_S,TLE4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TLE4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86276864,86276864,A,-,P270959_S,UBQLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBQLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,97555229,97555229,A,-,P270959_S,AOPEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AOPEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99735299,99735299,-,A,P270959_S,MFSD14C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD14C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100872323,100872323,-,C,P270959_S,TRIM14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,101014316,101014316,A,-,P270959_S,TBC1D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113449623,113449623,T,-,P270959_S,MUSK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUSK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114694384,114694384,A,-,P270959_S,MIR4668,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4668,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116039102,116039102,T,-,P270959_S,PRPF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,119064877,119064877,T,-,P270959_S,PAPPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123421596,123421596,T,-,P270959_S,MEGF9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123591494,123591494,A,-,P270959_S,PSMD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134382458,134382458,A,-,P270959_S,POMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140968697,140968697,T,-,P270959_S,CACNA1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5244456,5244456,-,T,P270959_S,AKR1C4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1C4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5762766,5762766,-,T,P270959_S,TASOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TASOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27434231,27434231,A,-,P270959_S,YME1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YME1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33496677,33496677,A,-,P270959_S,NRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,35314130,35314130,-,A,P270959_S,CUL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,50530449,50530449,A,-,P270959_S,C10orf71,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,C10orf71,NM_001135196:c.-142del-,NA,NA,NA,NA,NA,NA,NA,NA
chr10,60120873,60120873,T,-,P270959_S,UBE2D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70206007,70206007,-,G,P270959_S,DNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70669943,70669943,A,-,P270959_S,DDX50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,74653469,74653469,A,-,P270959_S,OIT3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OIT3,dist=28,NA,NA,NA,NA,NA,NA,NA,NA
chr10,79606455,79606455,A,-,P270959_S,DLG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,89420898,89420898,-,A,P270959_S,PAPSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94250374,94250374,A,-,P270959_S,IDE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95099849,95099849,G,-,P270959_S,MYOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95415723,95415724,AC,-,P270959_S,PDE6C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDE6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99197113,99197113,T,-,P270959_S,EXOSC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,100481684,100481684,A,-,P270959_S,HPSE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPSE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,101510105,101510105,T,-,P270959_S,CUTC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUTC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,101992924,101992924,A,-,P270959_S,CWF19L1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CWF19L1,NM_001303404:c.*60delT;NM_001303405:c.*60delT;NM_001303406:c.*60delT;NM_001303407:c.*60delT;NM_018294:c.*60delT,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102238790,102238790,T,-,P270959_S,WNT8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNT8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103766491,103766491,T,-,P270959_S,ARMH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104214081,104214081,T,-,P270959_S,RPARP-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RPARP-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104620164,104620164,T,-,P270959_S,BORCS7-ASMT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BORCS7-ASMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105990648,105990649,TT,-,P270959_S,CFAP43,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CFAP43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,111629691,111629691,T,-,P270959_S,XPNPEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPNPEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114297931,114297931,T,-,P270959_S,VTI1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VTI1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115336672,115336672,-,T,P270959_S,HABP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HABP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,116608351,116608351,T,-,P270959_S,FAM160B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM160B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118236576,118236576,T,-,P270959_S,PNLIPRP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNLIPRP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,120070842,120070842,-,G,P270959_S,FAM204A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM204A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,121541048,121541048,-,T,P270959_S,INPP5F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124596659,124596659,T,-,P270959_S,FAM24B-CUZD1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FAM24B-CUZD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126187386,126187386,C,-,P270959_S,LHPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LHPP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,127789605,127789605,-,T,P270959_S,ADAM12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1944051,1944052,CT,-,P270959_S,TNNT3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNNT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3742063,3742064,AA,-,P270959_S,NUP98,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NUP98,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4880850,4880850,T,-,P270959_S,OR51H1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,OR51H1,NM_001348291:c.*36delA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5687609,5687610,AA,-,P270959_S,TRIM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRIM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6500929,6500929,G,-,P270959_S,ARFIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,12229829,12229829,T,-,P270959_S,MICAL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MICAL2,NM_001282668:c.*132delT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17940172,17940172,-,ACACAC,P270959_S,SERGEF,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SERGEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18162388,18162388,-,ATTT,P270959_S,MRGPRX3,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,MRGPRX3;MRGPRX4,dist=2355;dist=31996,NA,NA,NA,NA,NA,NA,NA,NA
chr11,19187828,19187828,T,-,P270959_S,ZDHHC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,27414072,27414073,AA,-,P270959_S,LGR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LGR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,30932783,30932783,T,-,P270959_S,DCDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,33130000,33130000,T,-,P270959_S,CSTF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSTF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46100898,46100898,-,A,P270959_S,PHF21A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46666873,46666873,T,-,P270959_S,ATG13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,48374045,48374045,A,-,P270959_S,OR4C45,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,OR4C45,dist=46,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49144969,49144969,-,T,P270959_S,TRIM64C,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM64C;FOLH1,dist=64305;dist=21675,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59427011,59427011,T,-,P270959_S,PATL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59611619,59611619,-,T,P270959_S,CBLIF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBLIF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60506192,60506192,A,-,P270959_S,MS4A18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60781245,60781246,TG,-,P270959_S,CD6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62345059,62345059,A,-,P270959_S,TUT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64011554,64011554,-,A,P270959_S,FKBP2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FKBP2;LOC114841035,NM_004470:c.*53_*54insA;NM_001370367:c.*53_*54insA;NM_001135208:c.*53_*54insA;NM_001370362:c.*53_*54insA;NM_001370363:c.*53_*54insA;NM_001370365:c.*53_*54insA;NM_001370360:c.*53_*54insA;NM_057092:c.*53_*54insA;NM_001370414:c.*622_*623insA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64421250,64421250,T,-,P270959_S,NRXN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68839275,68839275,C,-,P270959_S,TPCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70268594,70268594,T,-,P270959_S,CTTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71705621,71705621,A,-,P270959_S,RNF121,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF121,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76727867,76727867,T,-,P270959_S,ACER3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACER3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76874149,76874149,-,AT,P270959_S,MYO7A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MYO7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,82984771,82984771,A,-,P270959_S,CCDC90B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC90B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89166069,89166069,-,A,P270959_S,NOX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89533910,89533910,-,A,P270959_S,TRIM49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,92705614,92705614,T,-,P270959_S,MTNR1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTNR1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,99827811,99827811,T,-,P270959_S,CNTN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102736288,102736288,A,-,P270959_S,MMP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107904512,107904512,-,T,P270959_S,CUL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107940724,107940724,T,-,P270959_S,CUL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,112952272,112952272,-,T,P270959_S,NCAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113608928,113608928,A,-,P270959_S,ZW10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZW10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119149585,119149585,T,-,P270959_S,CBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119231138,119231139,TT,-,P270959_S,USP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,USP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134072805,134072805,A,-,P270959_S,NCAPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1909657,1909658,CC,-,P270959_S,CACNA2D4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CACNA2D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2786184,2786184,A,-,P270959_S,CACNA1C-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CACNA1C-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,4645162,4645162,A,-,P270959_S,C12orf4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6858890,6858890,A,-,P270959_S,MLF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7277513,7277513,-,T,P270959_S,RBP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8692328,8692328,A,-,P270959_S,CLEC4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9552367,9552367,A,-,P270959_S,LOC728715,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC728715,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,12273985,12273985,C,-,P270959_S,LRP6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LRP6,NM_002336:c.*75delG,NA,NA,NA,NA,NA,NA,NA,NA
chr12,13364426,13364426,-,A,P270959_S,EMP1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,EMP1,NM_001423:c.-19_-18insA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,14767493,14767493,A,-,P270959_S,PLBD1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PLBD1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15673097,15673098,CA,-,P270959_S,PTPRO,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18534673,18534674,TG,-,P270959_S,PIK3C2G,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIK3C2G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,20870034,20870034,T,-,P270959_S,SLCO1C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO1C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46757462,46757462,T,-,P270959_S,SLC38A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,47182406,47182407,AC,-,P270959_S,SLC38A4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC38A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49252173,49252173,T,-,P270959_S,RND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51392898,51392898,A,-,P270959_S,SLC11A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC11A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53514403,53514404,AA,-,P270959_S,SOAT2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SOAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56561736,56561737,AC,-,P270959_S,SMARCC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SMARCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58202497,58202497,A,-,P270959_S,AVIL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AVIL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62147251,62147251,A,-,P270959_S,TAFA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAFA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69126366,69126366,A,-,P270959_S,NUP107,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP107,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,70731462,70731462,-,T,P270959_S,CNOT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,70949488,70949488,-,T,P270959_S,PTPRB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71182871,71182871,T,-,P270959_S,PTPRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72163689,72163689,T,-,P270959_S,RAB21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80613571,80613571,T,-,P270959_S,OTOGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,85440930,85440930,-,A,P270959_S,LRRIQ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRIQ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88569940,88569940,-,T,P270959_S,TMTC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMTC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,91545279,91545279,T,-,P270959_S,DCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94575208,94575208,A,-,P270959_S,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,97159023,97159023,-,A,P270959_S,CFAP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,99042394,99042394,T,-,P270959_S,APAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101776805,101776805,-,T,P270959_S,UTP20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110454330,110454330,T,-,P270959_S,ANKRD13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111100595,111100595,C,-,P270959_S,HVCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HVCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111351964,111351965,AC,-,P270959_S,MYL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111992032,111992032,A,-,P270959_S,ATXN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112241552,112241552,T,-,P270959_S,ALDH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113645152,113645152,-,A,P270959_S,IQCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121202941,121202942,AA,-,P270959_S,SPPL3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPPL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122097044,122097045,CA,-,P270959_S,MORN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MORN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122618753,122618753,T,-,P270959_S,MLXIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLXIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122838947,122838947,-,A,P270959_S,CLIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123834799,123834799,A,-,P270959_S,SBNO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SBNO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124144573,124144574,TT,-,P270959_S,GTF2H3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GTF2H3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,131476666,131476668,AAA,-,P270959_S,ADGRD1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ADGRD1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132539501,132539501,T,-,P270959_S,EP400,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EP400,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21148462,21148462,-,AT,P270959_S,IFT88,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,IFT88,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25467011,25467011,A,-,P270959_S,CENPJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,27830554,27830554,T,-,P270959_S,RPL21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,28980037,28980037,A,-,P270959_S,FLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,31715454,31715454,A,-,P270959_S,HSPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46641622,46641622,T,-,P270959_S,CPB2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CPB2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,47408903,47408903,T,-,P270959_S,HTR2A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HTR2A,NM_000621:c.*69delA;NM_001165947:c.*69delA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49089621,49089621,T,-,P270959_S,RCBTB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCBTB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49096544,49096544,A,-,P270959_S,RCBTB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCBTB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49684437,49684437,A,-,P270959_S,FNDC3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49924866,49924866,A,-,P270959_S,CAB39L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAB39L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50098427,50098427,A,-,P270959_S,PHF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF11;SETDB2-PHF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50116015,50116015,-,A,P270959_S,RCBTB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCBTB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52509214,52509214,T,-,P270959_S,ATP7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52708176,52708176,T,-,P270959_S,NEK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53039393,53039393,-,A,P270959_S,CKAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95673940,95673940,-,A,P270959_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95748443,95748443,A,-,P270959_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,110821872,110821872,-,ACAT,P270959_S,COL4A1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,COL4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,115012591,115012591,T,-,P270959_S,CDC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22944050,22944050,A,-,P270959_S,LOC105370401,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105370401,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24516262,24516262,A,-,P270959_S,DHRS4L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS4L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31127177,31127177,A,-,P270959_S,SCFD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCFD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35073262,35073263,AA,-,P270959_S,SNX6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SNX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35497275,35497275,T,-,P270959_S,SRP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50760969,50760969,A,-,P270959_S,L2HGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,L2HGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51477220,51477220,-,A,P270959_S,TRIM9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51716162,51716162,T,-,P270959_S,TMX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58795071,58795071,-,A,P270959_S,ARID4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,70793015,70793015,-,AA,P270959_S,COX16,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,COX16;SYNJ2BP-COX16,NM_016468:c.*34_*35insTT;NM_001204090:c.*34_*35insTT;NM_001202547:c.*34_*35insTT;NM_001202549:c.*34_*35insTT;NM_001202548:c.*34_*35insTT,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73538688,73538688,T,-,P270959_S,RBM25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75497428,75497428,-,A,P270959_S,MLH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93940409,93940409,-,T,P270959_S,UNC79,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC79,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96179118,96179118,-,A,P270959_S,TCL1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCL1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103999222,103999222,G,-,P270959_S,TRMT61A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRMT61A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104515928,104515928,T,-,P270959_S,TDRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34157542,34157542,A,-,P270959_S,RYR3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RYR3,NM_001243996:c.*115delA;NM_001036:c.*115delA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34168208,34168208,A,-,P270959_S,AVEN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AVEN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40005794,40005794,A,-,P270959_S,FSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40056233,40056233,T,-,P270959_S,FSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40951462,40951463,AA,-,P270959_S,KNL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42523219,42523219,A,-,P270959_S,TMEM87A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM87A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43701946,43701946,-,A,P270959_S,TUBGCP4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TUBGCP4,NM_001286414:c.*4534_*4535insA;NM_014444:c.*4534_*4535insA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50154657,50154657,T,-,P270959_S,ATP8B4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,51975641,51975641,A,-,P270959_S,SCG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52246421,52246421,T,-,P270959_S,LEO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LEO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,55653148,55653148,T,-,P270959_S,DNAAF4-CCPG1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNAAF4-CCPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,58974350,58974350,A,-,P270959_S,ADAM10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59506518,59506518,A,-,P270959_S,MYO1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59528995,59528995,T,-,P270959_S,MYO1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62201334,62201334,A,-,P270959_S,VPS13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65477365,65477365,C,-,P270959_S,CLPX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLPX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66794299,66794299,A,-,P270959_S,RPL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72208543,72208543,T,-,P270959_S,MYO9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72520718,72520720,TTT,-,P270959_S,PKM,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PKM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,76576183,76576183,A,-,P270959_S,ETFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,76577920,76577920,A,-,P270959_S,ETFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81193359,81193359,A,-,P270959_S,CEMIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEMIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,89803850,89803850,T,-,P270959_S,FANCI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90126219,90126219,T,-,P270959_S,TICRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TICRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90898036,90898036,-,T,P270959_S,ZNF774,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF774,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,7645807,7645807,-,G,P270959_S,RBFOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15737428,15737428,T,-,P270959_S,NDE1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NDE1,NM_001143979:c.-21208del-,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15857441,15857441,-,T,P270959_S,MYH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20749285,20749285,A,-,P270959_S,THUMPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THUMPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21689776,21689777,TA,-,P270959_S,OTOA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OTOA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24225933,24225933,-,T,P270959_S,PRKCB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24580001,24580002,GA,-,P270959_S,RBBP6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBBP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30680974,30680974,G,-,P270959_S,FBRS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FBRS,NM_001105079:c.*8delG,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31896213,31896213,-,T,P270959_S,ZNF267,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF267,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,53496440,53496440,T,-,P270959_S,RBL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,53656276,53656277,AA,-,P270959_S,RPGRIP1L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RPGRIP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55522679,55522679,-,A,P270959_S,MMP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56994395,56994395,T,-,P270959_S,HERPUD1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HERPUD1;CETP,dist=15619;dist=1467,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57724933,57724933,A,-,P270959_S,ADGRG3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADGRG3;DRC7,dist=1643;dist=3785,NA,NA,NA,NA,NA,NA,NA,NA
chr16,64294574,64294574,-,A,P270959_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;CDH11,dist=NONE;dist=683083,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68952939,68952939,-,T,P270959_S,TANGO6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TANGO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69385404,69385404,A,-,P270959_S,TMED6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMED6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70531988,70531988,T,-,P270959_S,COG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70845163,70845165,AAC,-,P270959_S,HYDIN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,72050827,72050827,T,-,P270959_S,DHODH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHODH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74542837,74542837,-,A,P270959_S,GLG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88105395,88105395,T,-,P270959_S,BANP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BANP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1383757,1383757,A,-,P270959_S,MYO1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4350102,4350102,G,-,P270959_S,SPNS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPNS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4906147,4906147,C,-,P270959_S,KIF1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5266498,5266498,T,-,P270959_S,RABEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12028819,12028819,A,-,P270959_S,MAP2K4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15974580,15974581,AA,-,P270959_S,NCOR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NCOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18997160,18997182,GGGGTAAAGCCAGAGCCGGGCCC,-,P270959_S,LOC388436,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC388436;LOC79999,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26888329,26888329,A,-,P270959_S,PIGS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27816600,27816600,A,-,P270959_S,TAOK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,28750817,28750817,T,-,P270959_S,CPD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30222050,30222050,A,-,P270959_S,UTP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,32957004,32957004,C,-,P270959_S,TMEM132E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM132E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33255294,33255294,T,-,P270959_S,CCT6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35988718,35988718,-,A,P270959_S,DDX52,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DDX52,NM_007010:exon6:c.748-2->T;NM_001291476:exon7:c.424-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38287585,38287585,A,-,P270959_S,MSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39033673,39033673,T,-,P270959_S,KRT20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39659880,39659880,A,-,P270959_S,KRT13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40457520,40457520,-,A,P270959_S,STAT5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40647391,40647392,TT,-,P270959_S,ATP6V0A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP6V0A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45370099,45370099,A,-,P270959_S,ITGB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,46655143,46655143,C,-,P270959_S,HOXB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOXB3;HOXB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47013394,47013394,T,-,P270959_S,SNF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47780109,47780109,A,-,P270959_S,SLC35B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,53084701,53084701,A,-,P270959_S,STXBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STXBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58013811,58013811,T,-,P270959_S,RPS6KB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58024908,58024908,-,A,P270959_S,RPS6KB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPS6KB1,NM_001272044:c.*759_*760insA;NM_001272060:c.*759_*760insA;NM_001272042:c.*759_*760insA;NM_001369679:c.*2045_*2046insA;NM_001369678:c.*1788_*1789insA;NM_001369676:c.*1691_*1692insA;NM_001369675:c.*1822_*1823insA;NM_001369673:c.*1788_*1789insA;NM_001369674:c.*1930_*1931insA;NM_001369669:c.*759_*760insA;NM_001369670:c.*759_*760insA;NM_001369671:c.*759_*760insA;NM_001369672:c.*759_*760insA;NM_003161:c.*759_*760insA;NM_001369677:c.*2041_*2042insA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61888619,61888619,A,-,P270959_S,DDX42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62968575,62968575,T,-,P270959_S,AMZ2P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,AMZ2P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66988994,66988995,GT,-,P270959_S,ABCA9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABCA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67077115,67077115,-,A,P270959_S,ABCA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67309524,67309524,-,A,P270959_S,ABCA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67516341,67516341,T,-,P270959_S,MAP2K6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72470120,72470121,AG,-,P270959_S,CD300A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CD300A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80540599,80540599,T,-,P270959_S,FOXK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80786380,80786380,-,C,P270959_S,TBCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3120038,3120038,T,-,P270959_S,MYOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29852591,29852591,T,-,P270959_S,GAREM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAREM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,33723066,33723066,T,-,P270959_S,ELP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,40034859,40034859,-,T,P270959_S,LINC00907,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00907,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44435294,44435294,A,-,P270959_S,PIAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,52927276,52927276,A,-,P270959_S,TCF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,59922723,59922723,T,-,P270959_S,RELCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61027095,61027095,A,-,P270959_S,KDSR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDSR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,67068606,67068606,G,-,P270959_S,DOK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,72516096,72516096,T,-,P270959_S,ZNF407,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF407,NM_001146190:c.*71delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1206797,1206797,T,-,P270959_S,STK11,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,STK11,NM_000455:c.-116del-,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3013987,3013988,TT,-,P270959_S,TLE2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4261827,4261827,A,-,P270959_S,YJU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YJU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4896949,4896949,T,-,P270959_S,ARRDC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARRDC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5739321,5739321,T,-,P270959_S,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6469736,6469736,T,-,P270959_S,DENND1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9003218,9003218,A,-,P270959_S,MUC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10662701,10662702,CA,-,P270959_S,ATG4D,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATG4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11495173,11495173,-,T,P270959_S,EPOR,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,EPOR,dist=183,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12128614,12128614,T,-,P270959_S,ZNF433-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF433-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14153191,14153191,A,-,P270959_S,IL27RA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL27RA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14203303,14203303,-,G,P270959_S,PRKACA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRKACA,NM_001304349:c.*620_*621insC;NM_002730:c.*620_*621insC;NM_207518:c.*620_*621insC,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14232088,14232088,T,-,P270959_S,ASF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16524425,16524425,A,-,P270959_S,EPS15L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS15L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18108711,18108711,A,-,P270959_S,KCNN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21560315,21560316,CA,-,P270959_S,ZNF738,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ZNF738,NM_001355239:c.*30_*31delCA;NM_001355241:c.*1344_*1345delCA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22786284,22786284,-,C,P270959_S,GOLGA2P9,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,GOLGA2P9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,24103010,24103010,A,-,P270959_S,ZNF726,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF726,NM_001348689:c.*118delA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,32944218,32944218,T,-,P270959_S,DPY19L3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPY19L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33222919,33222919,T,-,P270959_S,TDRD12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33268035,33268035,T,-,P270959_S,TDRD12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35758790,35758790,T,-,P270959_S,LSR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LSR,NM_015925:c.*28delT;NM_001260490:c.*28delT;NM_001260489:c.*28delT;NM_205835:c.*28delT;NM_205834:c.*28delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37118583,37118583,-,AC,P270959_S,ZNF382,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,ZNF382,NM_032825:c.*131_*132insAC;NM_001256838:c.*131_*132insAC,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37383687,37383687,A,-,P270959_S,ZNF829,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF829,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41706982,41706982,A,-,P270959_S,CYP2S1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP2S1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42933186,42933186,-,T,P270959_S,LIPE-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LIPE-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44351030,44351030,T,-,P270959_S,ZNF283,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF283,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45322261,45322262,TC,-,P270959_S,BCAM,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50391940,50391940,-,G,P270959_S,TBC1D17,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TBC1D17,NM_001168222:c.*59_*60insG;NM_024682:c.*59_*60insG,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51214475,51214478,AGGA,-,P270959_S,SHANK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SHANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54545085,54545085,A,-,P270959_S,VSTM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VSTM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54671790,54671790,A,-,P270959_S,TMC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55420538,55420538,A,-,P270959_S,NCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58374333,58374333,-,T,P270959_S,ZNF587,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF587,NM_001204817:c.*2825_*2826insT;NM_032828:c.*2825_*2826insT,NA,NA,NA,NA,NA,NA,NA,NA
chr20,398039,398039,-,TG,P270959_S,RBCK1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RBCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3215049,3215049,-,CCAGCCC,P270959_S,SLC4A11,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SLC4A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3245008,3245008,T,-,P270959_S,C20orf194,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C20orf194,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3928845,3928845,A,-,P270959_S,RNF24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,7982307,7982307,T,-,P270959_S,TMX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,9360834,9360834,A,-,P270959_S,PLCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,9370506,9370506,-,T,P270959_S,PLCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10622080,10622080,-,A,P270959_S,JAG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,13695825,13695825,A,-,P270959_S,ESF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,13895708,13895708,A,-,P270959_S,SEL1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEL1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31825832,31825832,C,-,P270959_S,BPIFA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31960720,31960721,TT,-,P270959_S,CDK5RAP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDK5RAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33632235,33632235,-,A,P270959_S,TRPC4AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC4AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34269624,34269624,A,-,P270959_S,NFS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35852012,35852012,-,T,P270959_S,RPN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37191392,37191392,T,-,P270959_S,RALGAPB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALGAPB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,40743729,40743739,CAAGTATGGGG,-,P270959_S,PTPRT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52831141,52831141,-,T,P270959_S,PFDN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFDN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,54823685,54823686,TC,-,P270959_S,MC3R,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MC3R,dist=102,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56838587,56838587,-,A,P270959_S,PPP4R1L,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PPP4R1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56918991,56918991,G,-,P270959_S,RAB22A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB22A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,58439513,58439513,A,-,P270959_S,SYCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17135362,17135362,T,-,P270959_S,USP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17532980,17532980,A,-,P270959_S,MIR99AHG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR99AHG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17533067,17533068,TC,-,P270959_S,MIR99AHG,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,MIR99AHG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,27097750,27097750,T,-,P270959_S,ATP5PF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5PF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33982073,33982074,AA,-,P270959_S,C21orf59-TCP10L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C21orf59-TCP10L;CFAP298,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,36265324,36265324,T,-,P270959_S,RUNX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37706066,37706066,T,-,P270959_S,MORC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38588686,38588686,T,-,P270959_S,DSCR9,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DSCR9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47572804,47572804,-,G,P270959_S,FTCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FTCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,48064204,48064204,T,-,P270959_S,PRMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19470494,19470495,TT,-,P270959_S,CDC45,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDC45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20745000,20745001,CA,-,P270959_S,FAM230G,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,FAM230G;ZNF74,dist=38216;dist=3404,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20929656,20929656,T,-,P270959_S,MED15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26886974,26886974,T,-,P270959_S,SRRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,28146691,28146691,-,A,P270959_S,MN1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MN1,NM_002430:c.*211_*212insT,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29130814,29130814,A,-,P270959_S,CHEK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHEK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30218067,30218067,-,A,P270959_S,ASCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32239899,32239899,T,-,P270959_S,DEPDC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEPDC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32815492,32815492,-,A,P270959_S,BPIFC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BPIFC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36864768,36864768,A,-,P270959_S,TXN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39994288,39994288,-,GCCCT,P270959_S,CACNA1I,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CACNA1I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43820802,43820802,T,-,P270959_S,MPPED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPPED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45636356,45636356,G,-,P270959_S,KIAA0930,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0930,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,5909291,5909291,T,-,P270959_S,NLGN4X,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLGN4X,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,5950661,5950661,A,-,P270959_S,NLGN4X,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLGN4X,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,18659977,18659977,-,A,P270959_S,RS1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RS1,NM_000330:c.*146_*147insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,22186529,22186529,T,-,P270959_S,PHEX-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PHEX-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24225352,24225352,A,-,P270959_S,ZFX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,39930434,39930434,A,-,P270959_S,BCOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47755380,47755380,T,-,P270959_S,ZNF81,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF81,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47848050,47848050,-,T,P270959_S,ZNF182,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF182,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,65393804,65393804,-,T,P270959_S,HEPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,73045717,73045717,-,A,P270959_S,TSIX,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TSIX;XIST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,74280274,74280274,-,T,P270959_S,ABCB7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,74651360,74651360,A,-,P270959_S,ZDHHC15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,85134074,85134074,A,-,P270959_S,CHM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106028280,106028280,T,-,P270959_S,RNF128,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110406671,110406671,-,T,P270959_S,PAK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,114848444,114848444,T,-,P270959_S,PLS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117722082,117722082,T,-,P270959_S,DOCK11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117874954,117874954,T,-,P270959_S,IL13RA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL13RA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,122598636,122598636,A,-,P270959_S,GRIA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,122753440,122753440,A,-,P270959_S,THOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,122754874,122754874,-,A,P270959_S,THOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,123838709,123838709,A,-,P270959_S,TENM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,128581297,128581297,A,-,P270959_S,SMARCA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129483210,129483210,T,-,P270959_S,SLC25A14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129790756,129790756,T,-,P270959_S,ENOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,131233589,131233589,T,-,P270959_S,FRMD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,134495118,134495118,-,T,P270959_S,ZNF449,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF449,NM_152695:c.*117_*118insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,135115670,135115670,A,-,P270959_S,SLC9A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,135426542,135426542,T,-,P270959_S,ADGRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153055315,153055315,C,-,P270959_S,IDH3G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDH3G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153186698,153186698,G,-,P270959_S,ARHGAP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28573294,28573294,A,-,P277337_F,ATP5IF1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ATP5IF1;SESN2,dist=8678;dist=12735,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33139042,33139042,-,TTC,P277337_F,RBBP4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RBBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38292296,38292296,-,T,P277337_F,MTF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94473682,94473689,GCATTATG,-,P277337_F,ABCA4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155691192,155691193,TA,-,P277337_F,DAP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167780156,167780156,-,A,P277337_F,ADCY10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168200730,168200730,-,T,P277337_F,SFT2D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFT2D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225974486,225974486,-,G,P277337_F,SRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226465693,226465693,-,T,P277337_F,LIN9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIN9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,231377225,231377225,C,-,P277337_F,GNPAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNPAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235311772,235311772,-,A,P277337_F,RBM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236759062,236759062,-,A,P277337_F,HEATR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3815533,3815533,T,-,P277337_F,DCDC2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCDC2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,9572888,9572888,A,-,P277337_F,CPSF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10139015,10139015,-,ATAC,P277337_F,GRHL1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GRHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11273408,11273409,TC,-,P277337_F,C2orf50,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,C2orf50,NM_182500:c.-53_-52del-;NM_001371320:c.-53_-52del-;NM_001371321:c.-53_-52del-,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44566505,44566506,AG,-,P277337_F,PREPL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PREPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111881871,111881871,T,-,P277337_F,BCL2L11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL2L11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,112551773,112551773,A,-,P277337_F,ANAPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANAPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202152243,202152243,-,AT,P277337_F,CASP8,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,CASP8,NM_001228:c.*926_*927insAT;NM_033355:c.*926_*927insAT;NM_001080124:c.*926_*927insAT;NM_001080125:c.*926_*927insAT;NM_033356:c.*926_*927insAT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233620908,233620910,TTT,-,P277337_F,GIGYF2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GIGYF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47604271,47604271,G,-,P277337_F,CSPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65433669,65433671,GCA,-,P277337_F,MAGI1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,100595246,100595246,-,A,P277337_F,ABI3BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABI3BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125694366,125694366,T,-,P277337_F,ROPN1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROPN1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141230887,141230887,T,-,P277337_F,RASA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141904644,141904644,-,A,P277337_F,GK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179085722,179085722,-,TA,P277337_F,MFN1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MFN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195950728,195950728,-,T,P277337_F,SLC51A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC51A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196127618,196127618,A,-,P277337_F,UBXN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBXN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25262233,25262242,TATATATATA,-,P277337_F,PI4K2B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PI4K2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,30481011,30481012,AG,-,P277337_F,LINC02472,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC02472;PCDH7,dist=1258228;dist=240979,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48596036,48596036,-,A,P277337_F,FRYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,52744121,52744122,GT,-,P277337_F,DCUN1D4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DCUN1D4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99313083,99313083,T,-,P277337_F,RAP1GDS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAP1GDS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,106879585,106879586,CA,-,P277337_F,NPNT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NPNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,7891426,7891426,A,-,P277337_F,MTRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,10397474,10397474,T,-,P277337_F,MARCHF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34945798,34945798,T,-,P277337_F,DNAJC21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37224916,37224916,T,-,P277337_F,CPLANE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPLANE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,101726829,101726829,-,T,P277337_F,SLCO6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122267539,122267539,T,-,P277337_F,SNX24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148622007,148622008,TC,-,P277337_F,ABLIM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABLIM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177035489,177035489,C,-,P277337_F,B4GALT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,13295753,13295753,G,-,P277337_F,LOC100130357,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100130357,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47220840,47220841,GT,-,P277337_F,TNFRSF21,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNFRSF21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,99842148,99842148,-,T,P277337_F,COQ3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,COQ3,dist=77,NA,NA,NA,NA,NA,NA,NA,NA
chr6,107231933,107231933,-,A,P277337_F,LINC02532,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02532,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117735716,117735716,-,A,P277337_F,ROS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,155153061,155153061,-,T,P277337_F,SCAF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,168363005,168363006,TG,-,P277337_F,AFDN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AFDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5770274,5770276,AAC,-,P277337_F,RNF216,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RNF216,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,26779604,26779604,A,-,P277337_F,SKAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75573272,75573272,A,-,P277337_F,POR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111512198,111512198,-,T,P277337_F,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141321396,141321397,GA,-,P277337_F,AGK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AGK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30938370,30938370,-,T,P277337_F,WRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39330917,39330918,TC,-,P277337_F,ADAM3A,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ADAM3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67590336,67590336,-,A,P277337_F,C8orf44,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C8orf44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82583105,82583105,A,-,P277337_F,IMPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,96264243,96264244,TA,-,P277337_F,C8orf37,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C8orf37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,108315600,108315600,A,-,P277337_F,ANGPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,109468230,109468230,-,AGAA,P277337_F,EMC2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110492743,110492743,-,A,P277337_F,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36893530,36893530,G,-,P277337_F,PAX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112010072,112010075,AAAC,-,P277337_F,EPB41L4B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPB41L4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,118164376,118164377,TT,-,P277337_F,1-Dec,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,1-Dec,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123886191,123886191,T,-,P277337_F,CNTRL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTRL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130536197,130536197,A,-,P277337_F,SH2D3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2D3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133364632,133364632,A,-,P277337_F,ASS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134949137,134949137,A,-,P277337_F,MED27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,137013309,137013309,T,-,P277337_F,WDR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,42681216,42681216,T,-,P277337_F,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;LOC441666,dist=NONE;dist=146098,NA,NA,NA,NA,NA,NA,NA,NA
chr10,81053094,81053094,-,T,P277337_F,ZMIZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMIZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97725543,97725544,TG,-,P277337_F,ENTPD1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ENTPD1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118236575,118236575,-,T,P277337_F,PNLIPRP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNLIPRP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124711590,124711595,TTTTAA,-,P277337_F,C10orf88,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C10orf88,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8716233,8716233,A,-,P277337_F,ST5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17591627,17591630,GCAG,-,P277337_F,OTOG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62638197,62638197,-,T,P277337_F,SLC3A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC3A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,69468188,69468188,T,-,P277337_F,CCND1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CCND1,NM_053056:c.*2138delT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107904513,107904513,T,-,P277337_F,CUL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134078848,134078848,A,-,P277337_F,NCAPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6690187,6690187,A,-,P277337_F,CHD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56096601,56096602,AC,-,P277337_F,ITGA7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITGA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57000641,57000641,T,-,P277337_F,BAZ2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAZ2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,65133389,65133389,A,-,P277337_F,GNS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,107268602,107268602,T,-,P277337_F,RIC8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIC8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111923148,111923148,A,-,P277337_F,ATXN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111992031,111992031,-,A,P277337_F,ATXN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122017849,122017849,A,-,P277337_F,KDM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122348938,122348938,-,TTTTG,P277337_F,PSMD9,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PSMD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,51590473,51590473,A,-,P277337_F,GUCY1B2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUCY1B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,77844202,77844202,-,A,P277337_F,MYCBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYCBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23496861,23496861,A,-,P277337_F,PSMB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,28125779,28125779,A,-,P277337_F,LOC728755,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC728755,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76349013,76349013,-,T,P277337_F,TTLL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103964808,103964808,T,-,P277337_F,MARK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34522109,34522110,CT,-,P277337_F,EMC4,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,EMC4;SLC12A6,NM_001286420:c.*61_*62delCT;NM_001351373:c.*120_*121delCT;NM_016454:c.*120_*121delCT;NM_001042494:c.*3973_*3972delAG;NM_001365088:c.*3973_*3972delAG;NM_001042495:c.*3973_*3972delAG;NM_001042496:c.*3973_*3972delAG;NM_001042497:c.*3973_*3972delAG,NA,NA,NA,NA,NA,NA,NA,NA
chr15,37265003,37265003,T,-,P277337_F,MEIS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52656722,52656722,-,A,P277337_F,MYO5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,73580951,73580951,T,-,P277337_F,NEO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3802504,3802504,T,-,P277337_F,P2RX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P2RX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7080112,7080113,CA,-,P277337_F,ASGR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ASGR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20254235,20254236,TT,-,P277337_F,CCDC144CP,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,CCDC144CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30689709,30689709,T,-,P277337_F,ZNF207,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF207,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58289532,58289532,-,A,P277337_F,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,7017459,7017459,-,A,P277337_F,LAMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43914205,43914207,GCC,-,P277337_F,RNF165,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,RNF165,NM_152470:c.-33_-31del-;NM_001256758:c.-113412_-113410del-,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44656710,44656710,A,-,P277337_F,HDHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3771165,3771174,CCTTGGCCTC,-,P277337_F,MIR1268A,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6667027,6667030,AATG,-,P277337_F,TNFSF14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNFSF14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9582092,9582092,-,A,P277337_F,ZNF560,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF560,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10425941,10425941,T,-,P277337_F,FDX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FDX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18794474,18794476,GGA,-,P277337_F,CRTC1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,CRTC1,dist=14,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43689420,43689421,AC,-,P277337_F,PSG5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PSG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45322261,45322262,TC,-,P277337_F,BCAM,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56220430,56220430,-,T,P277337_F,NLRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,26061750,26061750,-,TTTTA,P277337_F,FAM182A,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,FAM182A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62062654,62062655,CA,-,P277337_F,KCNQ2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KCNQ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40981431,40981431,A,-,P277337_F,B3GALT5-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,B3GALT5-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46931002,46931002,-,ACAT,P277337_F,COL18A1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,COL18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35659263,35659263,T,-,P277337_F,HMGXB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGXB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37260869,37260871,TCC,-,P277337_F,NCF4-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,NCF4-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38071732,38071732,C,-,P277337_F,LGALS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,131202217,131202218,TG,-,P277337_F,STK26,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STK26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,149867658,149867658,T,-,P277337_F,MTMR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21175885,21175885,-,T,P277337_S,EIF4G3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4G3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33146114,33146114,T,-,P277337_S,RBBP4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RBBP4;SYNC,NM_005610:c.*808delT;NM_001135255:c.*808delT;NM_001135256:c.*808delT;NM_001161708:c.*1275delA;NM_030786:c.*1337delA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,34631184,34631185,CA,-,P277337_S,CSMD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSMD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43158944,43158945,TT,-,P277337_S,YBX1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,YBX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45316742,45316742,T,-,P277337_S,EIF2B3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,64097559,64097560,GG,-,P277337_S,PGM1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PGM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,95615749,95615749,T,-,P277337_S,TLCD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLCD4;TLCD4-RWDD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160519550,160519550,G,-,P277337_S,CD84,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225974486,225974486,-,G,P277337_S,SRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225974547,225974547,-,T,P277337_S,SRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235938388,235938388,-,A,P277337_S,LYST,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LYST,NM_000081:exon18:c.5461-2->T;NM_001301365:exon18:c.5461-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236395936,236395936,-,T,P277337_S,ERO1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1687652,1687652,-,T,P277337_S,PXDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38527398,38527399,CT,-,P277337_S,ATL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38791251,38791251,-,T,P277337_S,HNRNPLL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HNRNPLL,NM_138394:c.*72_*73insA;NM_001142650:c.*72_*73insA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152302070,152302070,-,T,P277337_S,RIF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160872997,160872998,GA,-,P277337_S,PLA2R1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLA2R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202152243,202152243,-,AT,P277337_S,CASP8,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,CASP8,NM_001228:c.*926_*927insAT;NM_033355:c.*926_*927insAT;NM_001080124:c.*926_*927insAT;NM_001080125:c.*926_*927insAT;NM_033356:c.*926_*927insAT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233752933,233752934,CA,-,P277337_S,NGEF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NGEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,32859515,32859517,CTC,-,P277337_S,TRIM71,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TRIM71,NM_001039111:c.-58_-56del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49397824,49397824,-,A,P277337_S,RHOA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,134090352,134090353,GA,-,P277337_S,AMOTL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AMOTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,25262233,25262242,TATATATATA,-,P277337_S,PI4K2B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PI4K2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,30341581,30341582,GT,-,P277337_S,LINC02472,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC02472;PCDH7,dist=1118798;dist=380409,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57384806,57384807,TG,-,P277337_S,ARL9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,67142261,67142261,-,G,P277337_S,MIR1269A,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR1269A,dist=281,NA,NA,NA,NA,NA,NA,NA,NA
chr4,80905011,80905011,-,T,P277337_S,ANTXR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANTXR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103245558,103245558,A,-,P277337_S,SLC39A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,170510679,170510679,-,A,P277337_S,NEK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,184567432,184567432,A,-,P277337_S,RWDD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RWDD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,31405765,31405765,-,A,P277337_S,DROSHA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DROSHA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54552381,54552381,A,-,P277337_S,DHX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,111530025,111530026,AC,-,P277337_S,EPB41L4A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPB41L4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131143104,131143104,A,-,P277337_S,MEIKIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIKIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,52130245,52130245,-,A,P277337_S,MCM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70459170,70459170,-,T,P277337_S,LMBRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMBRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,86251852,86251852,A,-,P277337_S,SNX14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136847117,136847117,T,-,P277337_S,MAP7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MAP7,NM_001198608:c.-15delA;NM_001198611:c.-15delA;NM_001198609:c.-15delA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,170059146,170059147,AC,-,P277337_S,WDR27,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WDR27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,13949853,13949853,-,T,P277337_S,ETV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,14027868,14027869,CA,-,P277337_S,ETV1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ETV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21788113,21788116,AAAT,-,P277337_S,DNAH11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNAH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23286134,23286134,A,-,P277337_S,GPNMB,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,GPNMB,dist=260,NA,NA,NA,NA,NA,NA,NA,NA
chr7,72667747,72667747,T,-,P277337_S,NCF1B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NCF1B;NSUN5,dist=17768;dist=48766,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107406419,107406419,T,-,P277337_S,SLC26A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC26A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,137151696,137151696,A,-,P277337_S,DGKI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,53597931,53597931,A,-,P277337_S,RB1CC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RB1CC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,108315600,108315600,A,-,P277337_S,ANGPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,109468230,109468230,-,AGAA,P277337_S,EMC2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95765415,95765415,T,-,P277337_S,FGD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131743701,131743701,-,T,P277337_S,NUP188,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13494397,13494398,AA,-,P277337_S,BEND7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BEND7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,74098316,74098316,A,-,P277337_S,DNAJB12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJB12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97725543,97725544,TG,-,P277337_S,ENTPD1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ENTPD1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114297931,114297931,T,-,P277337_S,VTI1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VTI1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124711590,124711595,TTTTAA,-,P277337_S,C10orf88,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C10orf88,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9817705,9817705,T,-,P277337_S,SBF2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SBF2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,30932783,30932783,T,-,P277337_S,DCDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,35344348,35344349,AG,-,P277337_S,SLC1A2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66285926,66285926,T,-,P277337_S,BBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74322361,74322361,T,-,P277337_S,POLD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89804293,89804294,TC,-,P277337_S,TRIM49C,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,TRIM49C;UBTFL1,dist=29100;dist=14824,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134078848,134078848,A,-,P277337_S,NCAPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,496393,496393,A,-,P277337_S,KDM5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10051720,10051720,A,-,P277337_S,CLEC2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,63964641,63964641,A,-,P277337_S,DPY19L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPY19L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113716735,113716736,GT,-,P277337_S,TPCN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122694215,122694215,A,-,P277337_S,DIABLO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIABLO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123103116,123103116,A,-,P277337_S,KNTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,20247195,20247195,A,-,P277337_S,MPHOSPH8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MPHOSPH8,NM_017520:c.*1180delA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50300780,50300780,-,T,P277337_S,NEMF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEMF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34522109,34522110,CT,-,P277337_S,EMC4,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,EMC4;SLC12A6,NM_001286420:c.*61_*62delCT;NM_001351373:c.*120_*121delCT;NM_016454:c.*120_*121delCT;NM_001042494:c.*3973_*3972delAG;NM_001365088:c.*3973_*3972delAG;NM_001042495:c.*3973_*3972delAG;NM_001042496:c.*3973_*3972delAG;NM_001042497:c.*3973_*3972delAG,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42703887,42703887,G,-,P277337_S,CAPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44134762,44134763,AT,-,P277337_S,WDR76,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WDR76,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90029796,90029799,AGAG,-,P277337_S,RHCG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RHCG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2905349,2905351,AAA,-,P277337_S,PRSS22,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRSS22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23117811,23117811,A,-,P277337_S,USP31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57554852,57554852,A,-,P277337_S,CCDC102A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC102A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71149517,71149518,CA,-,P277337_S,HYDIN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4750526,4750529,TTCA,-,P277337_S,MINK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MINK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7080112,7080113,CA,-,P277337_S,ASGR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ASGR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19850686,19850686,T,-,P277337_S,AKAP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35879009,35879009,A,-,P277337_S,SYNRG,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SYNRG,NM_001163546:c.*34delT;NM_080550:c.*34delT;NM_198882:c.*34delT;NM_001163545:c.*34delT;NM_007247:c.*34delT;NM_001163547:c.*34delT;NM_001163544:c.*34delT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41330235,41330235,A,-,P277337_S,NBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44806140,44806140,A,-,P277337_S,NSF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48440467,48440467,-,A,P277337_S,XYLT2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,XYLT2;MRPL27,dist=1921;dist=4761,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58022902,58022902,-,T,P277337_S,RPS6KB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62464412,62464412,-,T,P277337_S,MILR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MILR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,9593878,9593878,-,A,P277337_S,PPP4R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP4R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3771165,3771174,CCTTGGCCTC,-,P277337_S,MIR1268A,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16617404,16617404,A,-,P277337_S,C19orf44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,24309044,24309044,T,-,P277337_S,ZNF254,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF254,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34985296,34985296,-,A,P277337_S,WTIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WTIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35761963,35761963,-,T,P277337_S,USF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40570429,40570429,T,-,P277337_S,ZNF780B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF780B;ZNF780A,dist=8291;dist=4630,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3767713,3767713,-,T,P277337_S,CDC25B,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CDC25B,NM_001287518:c.-66_-65insT;NM_001287517:c.-66_-65insT;NM_001287516:c.-66_-65insT,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10639099,10639100,CA,-,P277337_S,JAG1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,JAG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38588686,38588686,T,-,P277337_S,DSCR9,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DSCR9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50566970,50566980,TTTTTTTTTTT,-,P277337_S,MOV10L1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MOV10L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,52825741,52825741,G,-,P277337_S,SPANXN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPANXN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,52825753,52825753,-,AGA,P277337_S,SPANXN5,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SPANXN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117900303,117900303,-,T,P277337_S,IL13RA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL13RA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15654738,15654738,T,-,P286189_F,LOC101927417,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101927417,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20829808,20829808,-,A,P286189_F,MUL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27087177,27087177,-,A,P286189_F,ARID1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33139044,33139044,-,C,P286189_F,RBBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52927296,52927296,A,-,P286189_F,TUT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94643144,94643144,T,-,P286189_F,ARHGAP29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852509,144852513,AACAT,-,P286189_F,LOC100996724,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852532,144852532,-,CCC,P286189_F,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145018102,145018102,-,AGAA,P286189_F,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207195091,207195092,AC,-,P286189_F,C1orf116,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,C1orf116,NM_001083924:c.*212_*211delGT;NM_023938:c.*212_*211delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229438530,229438530,-,T,P286189_F,RAB4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,232601294,232601295,AT,-,P286189_F,SIPA1L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SIPA1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,248524800,248524801,AC,-,P286189_F,OR2T4,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,OR2T4,dist=82,NA,NA,NA,NA,NA,NA,NA,NA
chr2,4672835,4672836,TG,-,P286189_F,LOC105373394,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC105373394;LINC01249,dist=649965;dist=2972,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26161227,26161227,A,-,P286189_F,KIF3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43793963,43793963,-,A,P286189_F,THADA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THADA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,63220992,63220992,-,T,P286189_F,EHBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,64114399,64114399,A,-,P286189_F,UGP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91960777,91960777,G,-,P286189_F,LOC101927050,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101927050;GGT8P,dist=60641;dist=2591,NA,NA,NA,NA,NA,NA,NA,NA
chr2,92075704,92075704,C,-,P286189_F,GGT8P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GGT8P;ACTR3BP2,dist=105551;dist=53455,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99294697,99294698,AA,-,P286189_F,MGAT4A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MGAT4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102026879,102026879,-,CT,P286189_F,RFX8,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RFX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,110322117,110322117,-,A,P286189_F,SEPTIN10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPTIN10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114340451,114340453,GAG,-,P286189_F,WASH2P,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,WASH2P;MIR1302-3,dist=83;dist=83,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128044122,128044122,A,-,P286189_F,ERCC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158283944,158283944,A,-,P286189_F,CYTIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,175991970,175991970,A,-,P286189_F,ATF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217024698,217024698,T,-,P286189_F,XRCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XRCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220118673,220118673,G,-,P286189_F,TUBA4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBA4A;TUBA4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220147479,220147479,A,-,P286189_F,DNAJB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,225695338,225695338,A,-,P286189_F,DOCK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,232656424,232656424,-,T,P286189_F,COPS7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,30045473,30045473,-,T,P286189_F,RBMS3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RBMS3,NM_001177711:c.*120_*121insT;NM_001003792:c.*120_*121insT;NM_001003793:c.*120_*121insT;NM_001330696:c.*120_*121insT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53346526,53346526,T,-,P286189_F,DCP1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCP1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111685348,111685349,AT,-,P286189_F,PHLDB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHLDB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150420782,150420783,AG,-,P286189_F,ERICH6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ERICH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185347364,185347364,A,-,P286189_F,SENP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SENP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,187896883,187896884,AG,-,P286189_F,FLJ42393,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,FLJ42393,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,5982158,5982158,-,T,P286189_F,C4orf50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C4orf50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,7064238,7064243,TATATC,-,P286189_F,GRPEL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRPEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47973185,47973185,-,TGTGTG,P286189_F,LOC101927157,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC101927157,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79321770,79321770,-,TC,P286189_F,FRAS1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100784143,100784144,TG,-,P286189_F,DAPP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DAPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,106819044,106819044,T,-,P286189_F,NPNT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,169391991,169391991,A,-,P286189_F,DDX60L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX60L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,170670088,170670088,T,-,P286189_F,HPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43619102,43619105,TTAT,-,P286189_F,NNT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140968041,140968042,AA,-,P286189_F,DIAPH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DIAPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,38520530,38520530,-,A,P286189_F,BTBD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTBD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41000502,41000502,-,A,P286189_F,UNC5CL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC5CL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47220840,47220841,GT,-,P286189_F,TNFRSF21,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNFRSF21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56989203,56989204,CT,-,P286189_F,ZNF451-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ZNF451-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,83842085,83842086,CA,-,P286189_F,DOP1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DOP1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,96982112,96982112,T,-,P286189_F,UFL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UFL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,102124471,102124471,T,-,P286189_F,GRIK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,154489255,154489255,-,A,P286189_F,IPCEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPCEF1;OPRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,24329103,24329103,-,T,P286189_F,NPY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,42187735,42187736,CA,-,P286189_F,GLI3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GLI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44056176,44056177,CT,-,P286189_F,POLR2J4,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,POLR2J4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48047095,48047095,-,A,P286189_F,SUN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,64852791,64852792,TG,-,P286189_F,ZNF92,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF92,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,83098428,83098428,-,T,P286189_F,SEMA3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99770089,99770089,T,-,P286189_F,GPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100464996,100464996,A,-,P286189_F,MIR6875,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR6875;TRIP6;SLC12A9,dist=13;dist=362,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141752020,141752020,-,A,P286189_F,MGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155503844,155503844,-,T,P286189_F,RBM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25268455,25268455,-,TGTGTGTGTGTG,P286189_F,DOCK5,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48962336,48962336,T,-,P286189_F,UBE2V2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2V2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,53455013,53455013,-,A,P286189_F,ALKAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALKAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74782498,74782501,ACTT,-,P286189_F,UBE2W,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBE2W,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104922218,104922218,-,TA,P286189_F,RIMS2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133770870,133770870,T,-,P286189_F,TMEM71,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM71,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,88590182,88590182,-,T,P286189_F,NAA35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,98678758,98678758,T,-,P286189_F,ERCC6L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC6L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111681850,111681850,A,-,P286189_F,ELP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131882776,131882776,-,T,P286189_F,PTPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,24884780,24884780,A,-,P286189_F,ARHGAP21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27128581,27128581,A,-,P286189_F,ABI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118620747,118620747,-,AT,P286189_F,ENO4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ENO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,131639306,131639306,-,CCCCC,P286189_F,EBF3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EBF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63523428,63523428,-,A,P286189_F,RTN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67192333,67192334,CA,-,P286189_F,CARNS1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,CARNS1,NM_020811:c.*261_*262delCA;NM_001166222:c.*261_*262delCA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73077165,73077166,TG,-,P286189_F,ARHGEF17,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGEF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75316787,75316787,-,A,P286189_F,MAP6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAP6,NM_207577:c.*61_*62insT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77832334,77832334,T,-,P286189_F,ALG8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117772788,117772789,CA,-,P286189_F,TMPRSS13,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,TMPRSS13,NM_001206789:c.*166_*165delTG;NM_001077263:c.*166_*165delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr11,128855754,128855755,TA,-,P286189_F,ARHGAP32,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGAP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6640677,6640677,-,A,P286189_F,NCAPD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NCAPD2,NM_014865:c.*99_*100insA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8807983,8807983,T,-,P286189_F,MFAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,67663424,67663426,GGC,-,P286189_F,CAND1,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CAND1,NM_018448:c.-74_-72del-;NM_001329674:c.-12270_-12268del-;NM_001329675:c.-12270_-12268del-;NM_001329676:c.-12407_-12405del-,NA,NA,NA,NA,NA,NA,NA,NA
chr12,79986479,79986479,-,A,P286189_F,PAWR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAWR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80632597,80632598,TG,-,P286189_F,OTOGL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OTOGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,93873090,93873090,A,-,P286189_F,MRPL42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,100646134,100646134,-,A,P286189_F,DEPDC4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DEPDC4,NM_152317:c.*173_*174insT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,118455481,118455481,T,-,P286189_F,RFC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122017849,122017849,A,-,P286189_F,KDM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,45556292,45556292,A,-,P286189_F,NUFIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUFIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46148944,46148944,G,-,P286189_F,ERICH6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERICH6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,79216356,79216356,-,A,P286189_F,OBI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,108183365,108183365,-,AT,P286189_F,FAM155A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FAM155A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39597471,39597471,T,-,P286189_F,GEMIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEMIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74441598,74441598,C,-,P286189_F,ENTPD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENTPD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74516369,74516369,-,A,P286189_F,BBOF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBOF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75287731,75287731,T,-,P286189_F,YLPM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YLPM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88453423,88453423,-,A,P286189_F,GALC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92466485,92466486,AC,-,P286189_F,TRIP11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRIP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95604538,95604538,T,-,P286189_F,DICER1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DICER1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104432999,104432999,-,T,P286189_F,TDRD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104645755,104645755,-,C,P286189_F,KIF26A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF26A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64039882,64039883,CA,-,P286189_F,HERC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HERC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64404958,64404958,-,A,P286189_F,SNX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66735420,66735420,-,T,P286189_F,MAP2K1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30680974,30680974,G,-,P286189_F,FBRS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FBRS,NM_001105079:c.*8delG,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10411334,10411334,-,TG,P286189_F,MYHAS,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20768840,20768840,A,-,P286189_F,CCDC144NL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC144NL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57762403,57762403,T,-,P286189_F,CLTC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60598038,60598038,A,-,P286189_F,TLK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74208623,74208623,A,-,P286189_F,RNF157,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF157,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80878413,80878413,T,-,P286189_F,TBCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,5960055,5960060,ATATAC,-,P286189_F,L3MBTL4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,L3MBTL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,7026190,7026190,A,-,P286189_F,LAMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14251541,14251541,A,-,P286189_F,ANKRD20A5P,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANKRD20A5P;CYP4F35P,dist=24492;dist=85881,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61078577,61078577,T,-,P286189_F,VPS4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,64178924,64178924,-,A,P286189_F,CDH19,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CDH19,NM_021153:exon10:c.1459-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7675204,7675204,A,-,P286189_F,CAMSAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMSAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8388457,8388457,A,-,P286189_F,KANK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KANK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15575174,15575174,G,-,P286189_F,RASAL3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RASAL3,NM_022904:c.-5delC;NM_001348028:c.-5delC;NM_001348027:c.-5delC,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23557362,23557363,AA,-,P286189_F,ZNF91,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33096933,33096936,AAAT,-,P286189_F,ANKRD27,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANKRD27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37238537,37238537,-,A,P286189_F,ZNF850,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF850,NM_001267779:c.*131_*132insT;NM_001193552:c.*131_*132insT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39066540,39066541,TC,-,P286189_F,RYR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40570429,40570429,T,-,P286189_F,ZNF780B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF780B;ZNF780A,dist=8291;dist=4630,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40587865,40587865,T,-,P286189_F,ZNF780A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF780A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49604874,49604874,T,-,P286189_F,SNRNP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRNP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54204650,54204650,-,T,P286189_F,MIR520B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR520B,dist=109,NA,NA,NA,NA,NA,NA,NA,NA
chr20,9449394,9449395,AC,-,P286189_F,PLCB4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30156903,30156903,-,T,P286189_F,HM13-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HM13-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32211761,32211761,A,-,P286189_F,CBFA2T2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBFA2T2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34519522,34519522,-,A,P286189_F,PHF20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10606360,10606360,G,-,P286189_F,TEKT4P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TEKT4P2;TPTE,dist=637766;dist=299827,NA,NA,NA,NA,NA,NA,NA,NA
chr21,36080445,36080446,GT,-,P286189_F,CLIC6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLIC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44316955,44316956,AT,-,P286189_F,NDUFV3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NDUFV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44589921,44589921,C,-,P286189_F,CRYAA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYAA;CRYAA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18068158,18068158,-,A,P286189_F,LOC101929372,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC101929372;SLC25A18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44258339,44258339,-,CCCGCA,P286189_F,SULT4A1,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,SULT4A1,NM_014351:c.-78_-77insTGCGGG,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15270350,15270350,-,A,P286189_F,ASB9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASB9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16753120,16753120,A,-,P286189_F,SYAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48690774,48690774,A,-,P286189_F,PCSK1N,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK1N,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48768696,48768697,CA,-,P286189_F,SLC35A2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC35A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,65426920,65426920,-,T,P286189_F,HEPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,103903558,103903558,T,-,P286189_F,IL1RAPL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RAPL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129546261,129546261,T,-,P286189_F,RBMX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBMX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6692274,6692274,A,-,P286189_S,THAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26128485,26128485,T,-,P286189_S,SELENON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SELENON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28157176,28157176,-,A,P286189_S,PPP1R8,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PPP1R8,dist=117,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28843272,28843273,AG,-,P286189_S,RCC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,29320169,29320169,-,T,P286189_S,EPB41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33139044,33139044,-,C,P286189_S,RBBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43828861,43828861,-,T,P286189_S,CDC20,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDC20,NM_001255:c.*61_*62insT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54870482,54870482,G,-,P286189_S,SSBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,56962088,56962088,-,T,P286189_S,PLPP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PLPP3,NM_003713:c.*134_*135insA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100626182,100626182,-,T,P286189_S,LRRC39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852509,144852513,AACAT,-,P286189_S,LOC100996724,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852532,144852532,-,CCC,P286189_S,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145018102,145018102,-,AGAA,P286189_S,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156738052,156738052,C,-,P286189_S,PRCC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173921302,173921302,A,-,P286189_S,RC3H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RC3H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186300536,186300536,A,-,P286189_S,TPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220332835,220332835,-,A,P286189_S,RAB3GAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3GAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,226027067,226027067,-,GT,P286189_S,EPHX1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EPHX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,232601294,232601295,AT,-,P286189_S,SIPA1L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SIPA1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20302485,20302493,AGAAGGAGA,-,P286189_S,LAPTM4A,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LAPTM4A;SDC1,dist=51096;dist=98065,NA,NA,NA,NA,NA,NA,NA,NA
chr2,25043917,25043917,C,-,P286189_S,CENPO,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CENPO,NM_024322:c.*1730delC;NM_001199803:c.*1730delC;NM_001322101:c.*1730delC,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26161227,26161227,A,-,P286189_S,KIF3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38813167,38813167,-,T,P286189_S,HNRNPLL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPLL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38973132,38973132,A,-,P286189_S,SRSF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRSF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44934525,44934525,T,-,P286189_S,CAMKMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46844374,46844376,CTG,-,P286189_S,CRIPT,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CRIPT,NM_014171:c.-48_-46del-,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61143994,61143994,T,-,P286189_S,REL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69732572,69732573,AT,-,P286189_S,AAK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74141686,74141686,A,-,P286189_S,ACTG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,75918986,75918986,-,AA,P286189_S,GCFC2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GCFC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,87049359,87049359,A,-,P286189_S,CD8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,112615802,112615802,A,-,P286189_S,ANAPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANAPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114369806,114369806,-,CTT,P286189_S,RPL23AP7,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,RPL23AP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,166018891,166018891,-,A,P286189_S,SCN3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,189434711,189434711,-,A,P286189_S,GULP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GULP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202060401,202060401,T,-,P286189_S,CASP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209201529,209201530,AT,-,P286189_S,PIKFYVE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIKFYVE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,30769514,30769514,-,T,P286189_S,GADL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GADL1,NM_207359:c.*219_*220insA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,43385026,43385026,T,-,P286189_S,SNRK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52815855,52815856,AC,-,P286189_S,ITIH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52818893,52818893,A,-,P286189_S,ITIH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108182169,108182169,T,-,P286189_S,MYH15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,120924764,120924764,C,-,P286189_S,STXBP5L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STXBP5L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,125270986,125270987,TA,-,P286189_S,OSBPL11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OSBPL11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,187896883,187896884,AG,-,P286189_S,FLJ42393,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,FLJ42393,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195269527,195269527,-,A,P286189_S,PPP1R2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,7064238,7064243,TATATC,-,P286189_S,GRPEL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRPEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,66286113,66286113,-,A,P286189_S,EPHA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73434536,73434536,A,-,P286189_S,ADAMTS3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ADAMTS3,NM_014243:c.-57delT,NA,NA,NA,NA,NA,NA,NA,NA
chr4,90872905,90872905,A,-,P286189_S,MMRN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMRN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103556367,103556367,-,T,P286189_S,MANBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MANBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,145974936,145974936,A,-,P286189_S,ANAPC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANAPC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37065070,37065070,A,-,P286189_S,NIPBL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NIPBL,NM_133433:c.*76delA;NM_015384:c.*945delA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,50040550,50040550,T,-,P286189_S,PARP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80550025,80550027,TTG,-,P286189_S,CKMT2-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,CKMT2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26430816,26430816,-,A,P286189_S,BTN2A3P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,BTN2A3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27858721,27858722,TT,-,P286189_S,HIST1H3J,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,HIST1H3J,dist=151,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55147394,55147394,-,A,P286189_S,HCRTR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HCRTR2,NM_001526:c.*142_*143insA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55988838,55988838,T,-,P286189_S,COL21A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL21A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56989203,56989204,CT,-,P286189_S,ZNF451-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ZNF451-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,83842085,83842086,CA,-,P286189_S,DOP1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DOP1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,96982112,96982112,T,-,P286189_S,UFL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UFL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,102124470,102124470,-,T,P286189_S,GRIK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123786155,123786155,A,-,P286189_S,TRDN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRDN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,154489255,154489255,-,A,P286189_S,IPCEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPCEF1;OPRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44056176,44056177,CT,-,P286189_S,POLR2J4,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,POLR2J4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44687196,44687196,-,T,P286189_S,OGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,64852791,64852792,TG,-,P286189_S,ZNF92,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF92,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75896852,75896852,-,GGGGGC,P286189_S,SRRM3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SRRM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,93346067,93346068,CT,-,P286189_S,MIR4652,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MIR4652,dist=172,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99700033,99700033,A,-,P286189_S,AP4M1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP4M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99770089,99770089,T,-,P286189_S,GPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107332532,107332532,C,-,P286189_S,SLC26A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC26A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,120596744,120596744,A,-,P286189_S,ING3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ING3,NM_198267:c.*519delA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150919376,150919376,T,-,P286189_S,ABCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCF2;LOC114483834,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74782498,74782501,ACTT,-,P286189_S,UBE2W,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBE2W,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104922218,104922218,-,TA,P286189_S,RIMS2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,118159,118159,G,-,P286189_S,FOXD4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FOXD4,NM_207305:c.-40delC,NA,NA,NA,NA,NA,NA,NA,NA
chr9,17464479,17464479,-,T,P286189_S,CNTLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,44245836,44245836,-,G,P286189_S,XLOC_007697,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,XLOC_007697;LOC101927827,dist=63117;dist=138749,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6273171,6273171,T,-,P286189_S,PFKFB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKFB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6319884,6319884,-,T,P286189_S,PFKFB3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PFKFB3;LINC02649,dist=23273;dist=48623,NA,NA,NA,NA,NA,NA,NA,NA
chr10,62493086,62493088,GCT,-,P286189_S,ANK3,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,ANK3,NM_001204403:c.-9_-11delAGC,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1082927,1082927,-,T,P286189_S,MUC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2431996,2431997,CA,-,P286189_S,TRPM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRPM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3388294,3388294,A,-,P286189_S,ZNF195,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF195,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61323245,61323246,GT,-,P286189_S,SYT7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63523428,63523428,-,A,P286189_S,RTN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107904512,107904512,-,T,P286189_S,CUL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,110306749,110306749,T,-,P286189_S,FDX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FDX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118883881,118883881,T,-,P286189_S,CCDC84,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,1889920,1889920,-,A,P286189_S,ADIPOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADIPOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,5722396,5722397,TG,-,P286189_S,ANO2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10998556,10998556,-,A,P286189_S,PRH1-PRR4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PRH1-PRR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21242745,21242745,-,T,P286189_S,SLCO1B3-SLCO1B7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO1B3-SLCO1B7;SLCO1B7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,23686290,23686290,A,-,P286189_S,SOX5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SOX5,NM_152989:c.*863delT;NM_001330785:c.*863delT;NM_001261415:c.*863delT;NM_001261414:c.*863delT;NM_178010:c.*863delT;NM_006940:c.*863delT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27540088,27540089,TG,-,P286189_S,ARNTL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARNTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50045327,50045327,A,-,P286189_S,FMNL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMNL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50725393,50725393,A,-,P286189_S,FAM186A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM186A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57038362,57038362,-,A,P286189_S,ATP5F1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5F1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71031210,71031210,-,A,P286189_S,PTPRB,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PTPRB;PTPRR,dist=1;dist=643,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71148593,71148593,T,-,P286189_S,PTPRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94287682,94287682,-,A,P286189_S,CRADD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRADD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,99192793,99192793,A,-,P286189_S,ANKS1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKS1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75287731,75287731,T,-,P286189_S,YLPM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YLPM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103915243,103915243,T,-,P286189_S,MARK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104645755,104645755,-,C,P286189_S,KIF26A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF26A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,37184735,37184735,-,T,P286189_S,MEIS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40650449,40650449,-,CCGCCA,P286189_S,DISP2,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,DISP2,NM_033510:c.-74_-73insCCGCCA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41556335,41556335,T,-,P286189_S,CHP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,51018103,51018103,T,-,P286189_S,SPPL2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPPL2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3490634,3490634,A,-,P286189_S,ZNF597,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF597,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14700252,14700252,G,-,P286189_S,PARN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15976929,15976929,-,AAG,P286189_S,FOPNL,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FOPNL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21994285,21994286,AA,-,P286189_S,UQCRC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UQCRC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24922488,24922488,A,-,P286189_S,SLC5A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30663554,30663554,T,-,P286189_S,PRR14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRR14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,72107693,72107694,GT,-,P286189_S,HPR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,88105395,88105395,T,-,P286189_S,BANP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BANP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5238429,5238429,-,T,P286189_S,RABEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17909194,17909195,TG,-,P286189_S,DRC3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DRC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18057017,18057018,AT,-,P286189_S,MYO15A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYO15A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35979747,35979747,A,-,P286189_S,DDX52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36932234,36932234,T,-,P286189_S,PIP4K2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP4K2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45360440,45360440,T,-,P286189_S,ITGB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48049391,48049391,C,-,P286189_S,DLX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57762403,57762403,T,-,P286189_S,CLTC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,77086851,77086851,-,T,P286189_S,RBFOX3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RBFOX3,NM_001350451:c.*113_*114insA;NM_001350453:c.*113_*114insA;NM_001082575:c.*113_*114insA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79166468,79166468,G,-,P286189_S,CEP131,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12337643,12337645,CAG,-,P286189_S,AFG3L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AFG3L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44424652,44424652,T,-,P286189_S,PIAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,56054651,56054651,-,T,P286189_S,NEDD4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEDD4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,64178924,64178924,-,A,P286189_S,CDH19,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CDH19,NM_021153:exon10:c.1459-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3811458,3811458,-,T,P286189_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8601052,8601053,TC,-,P286189_S,MYO1F,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYO1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17396069,17396069,A,-,P286189_S,ANKLE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKLE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18273702,18273702,-,A,P286189_S,PIK3R2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3R2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46807468,46807468,T,-,P286189_S,HIF3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIF3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50733515,50733516,AG,-,P286189_S,MYH14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,470606,470606,-,A,P286189_S,CSNK2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSNK2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30156903,30156903,-,T,P286189_S,HM13-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HM13-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,58439455,58439455,A,-,P286189_S,SYCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33840214,33840215,AT,-,P286189_S,EVA1C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EVA1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40981430,40981430,-,A,P286189_S,B3GALT5-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,B3GALT5-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,26706501,26706501,A,-,P286189_S,SEZ6L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEZ6L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40719314,40719314,-,T,P286189_S,TNRC6B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TNRC6B,NM_001024843:c.*69_*70insT;NM_015088:c.*69_*70insT;NM_001162501:c.*69_*70insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,40588550,40588550,-,T,P286189_S,MED14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70616879,70616880,AA,-,P286189_S,TAF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110435582,110435582,A,-,P286189_S,PAK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28843272,28843273,AG,-,P286189_T,RCC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38185370,38185371,AC,-,P286189_T,EPHA10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPHA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52927296,52927296,A,-,P286189_T,TUT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,54870482,54870482,G,-,P286189_T,SSBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100624001,100624001,T,-,P286189_T,LRRC39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109191901,109191901,A,-,P286189_T,HENMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HENMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,117699715,117699716,AT,-,P286189_T,VTCN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VTCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852532,144852532,-,CCC,P286189_T,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150053397,150053397,-,T,P286189_T,VPS45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155870616,155870616,-,T,P286189_T,RIT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186095023,186095023,-,A,P286189_T,HMCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,232601294,232601295,AT,-,P286189_T,SIPA1L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SIPA1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,25043917,25043917,C,-,P286189_T,CENPO,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CENPO,NM_024322:c.*1730delC;NM_001199803:c.*1730delC;NM_001322101:c.*1730delC,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37260027,37260027,-,T,P286189_T,HEATR5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43980744,43980744,-,T,P286189_T,PLEKHH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91960777,91960777,G,-,P286189_T,LOC101927050,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101927050;GGT8P,dist=60641;dist=2591,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102026879,102026879,-,CT,P286189_T,RFX8,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RFX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,186689259,186689259,T,-,P286189_T,FSIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9745567,9745569,GCC,-,P286189_T,CPNE9,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CPNE9,NM_153635:c.-114_-112del-;NM_001308388:c.-114_-112del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15756058,15756058,-,A,P286189_T,ANKRD28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD28;BTD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,43385026,43385026,T,-,P286189_T,SNRK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,74350532,74350532,-,A,P286189_T,CNTN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138216174,138216174,A,-,P286189_T,CEP70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139081417,139081418,TA,-,P286189_T,COPB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COPB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,171852371,171852371,-,T,P286189_T,FNDC3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185347364,185347364,A,-,P286189_T,SENP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SENP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,7064238,7064243,TATATC,-,P286189_T,GRPEL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRPEL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48655700,48655700,T,-,P286189_T,FRYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79321770,79321770,-,TC,P286189_T,FRAS1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79697893,79697897,GGCTC,-,P286189_T,BMP2K,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BMP2K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,67576331,67576331,T,-,P286189_T,PIK3R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79809323,79809323,-,T,P286189_T,FAM151B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM151B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147016689,147016690,AG,-,P286189_T,JAKMIP2-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,JAKMIP2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149263976,149263977,TA,-,P286189_T,PDE6A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDE6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180424029,180424030,AG,-,P286189_T,BTNL3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BTNL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55147394,55147394,-,A,P286189_T,HCRTR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HCRTR2,NM_001526:c.*142_*143insA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57025996,57025996,T,-,P286189_T,ZNF451-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF451-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105228157,105228158,AC,-,P286189_T,HACE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HACE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,131948470,131948470,A,-,P286189_T,MED23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,146207502,146207502,-,T,P286189_T,LOC100507557,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100507557,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23239758,23239758,-,T,P286189_T,NUP42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,42187735,42187736,CA,-,P286189_T,GLI3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GLI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44056176,44056177,CT,-,P286189_T,POLR2J4,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,POLR2J4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44507417,44507417,A,-,P286189_T,NUDCD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDCD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,64852791,64852792,TG,-,P286189_T,ZNF92,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF92,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75185990,75185990,-,A,P286189_T,HIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,83098428,83098428,-,T,P286189_T,SEMA3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103969195,103969197,AGG,-,P286189_T,LHFPL3,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,LHFPL3,NM_199000:c.-33_-31del-,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139478128,139478129,TG,-,P286189_T,TBXAS1,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TBXAS1,NM_001166254:c.-97274_-97273del-;NM_001130966:c.-51062_-51061del-,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11872993,11872995,GGT,-,P286189_T,DEFB134,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,DEFB134;DEFB130A,dist=14732;dist=48903,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21862431,21862431,A,-,P286189_T,XPO7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPO7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,71506690,71506690,-,A,P286189_T,TRAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74782498,74782501,ACTT,-,P286189_T,UBE2W,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBE2W,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37305830,37305831,AT,-,P286189_T,ZCCHC7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZCCHC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,44245836,44245836,-,G,P286189_T,XLOC_007697,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,XLOC_007697;LOC101927827,dist=63117;dist=138749,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111680927,111680927,A,-,P286189_T,ELP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127263296,127263296,T,-,P286189_T,NR5A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR5A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132596000,132596000,-,A,P286189_T,C9orf78,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C9orf78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13743623,13743624,AC,-,P286189_T,FRMD4A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FRMD4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27128581,27128581,A,-,P286189_T,ABI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,72043218,72043219,CA,-,P286189_T,NPFFR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NPFFR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,72636245,72636245,A,-,P286189_T,SGPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,89505873,89505873,-,T,P286189_T,PAPSS2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PAPSS2,NM_001015880:c.*146_*147insT;NM_004670:c.*146_*147insT,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105752332,105752332,T,-,P286189_T,SLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,129178159,129178159,-,A,P286189_T,DOCK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67192333,67192334,CA,-,P286189_T,CARNS1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,CARNS1,NM_020811:c.*261_*262delCA;NM_001166222:c.*261_*262delCA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,114320749,114320749,-,T,P286189_T,REXO2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,REXO2,NM_015523:c.*52_*53insT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69158740,69158740,A,-,P286189_T,SLC35E3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC35E3,NM_001354997:c.*70delA;NM_018656:c.*70delA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46148944,46148944,G,-,P286189_T,ERICH6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERICH6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,42882206,42882206,A,-,P286189_T,LRFN5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LRFN5;NONE,dist=508454;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58599675,58599676,GT,-,P286189_T,ARMH4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARMH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74539317,74539317,-,A,P286189_T,ALDH6A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH6A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104645755,104645755,-,C,P286189_T,KIF26A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF26A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34657572,34657572,G,-,P286189_T,LPCAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPCAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,37184736,37184736,-,A,P286189_T,MEIS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44107382,44107382,-,T,P286189_T,MFAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52439780,52439780,T,-,P286189_T,GNB5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNB5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52903304,52903304,T,-,P286189_T,FAM214A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM214A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59009931,59009931,A,-,P286189_T,ADAM10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69732564,69732564,-,A,P286189_T,KIF23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75309171,75309171,T,-,P286189_T,SCAMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78518951,78518951,-,A,P286189_T,ACSBG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSBG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22310204,22310204,T,-,P286189_T,POLR3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57509698,57509699,CT,-,P286189_T,DOK4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DOK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17909194,17909195,TG,-,P286189_T,DRC3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DRC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26349093,26349093,-,A,P286189_T,LINC01992,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01992;NLK,dist=30360;dist=20610,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48632418,48632419,GT,-,P286189_T,SPATA20,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPATA20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58024909,58024909,A,-,P286189_T,RPS6KB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPS6KB1,NM_001272044:c.*760delA;NM_001272060:c.*760delA;NM_001272042:c.*760delA;NM_001369679:c.*2046delA;NM_001369678:c.*1789delA;NM_001369676:c.*1692delA;NM_001369675:c.*1823delA;NM_001369673:c.*1789delA;NM_001369674:c.*1931delA;NM_001369669:c.*760delA;NM_001369670:c.*760delA;NM_001369671:c.*760delA;NM_001369672:c.*760delA;NM_003161:c.*760delA;NM_001369677:c.*2042delA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58332410,58332410,T,-,P286189_T,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6956262,6956262,-,T,P286189_T,LOC101927188,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101927188,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43310597,43310597,-,T,P286189_T,SLC14A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC14A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,56245965,56245965,-,ACACACACACACACAC,P286189_T,ALPK2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ALPK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7675204,7675204,A,-,P286189_T,CAMSAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMSAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13323642,13323643,AC,-,P286189_T,CACNA1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CACNA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41400914,41400917,AAAC,-,P286189_T,CYP2G1P,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,CYP2G1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45515131,45515131,T,-,P286189_T,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55271765,55271766,GA,-,P286189_T,KIR2DL3,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,KIR2DL3;LOC101928804,dist=7261;dist=9108,NA,NA,NA,NA,NA,NA,NA,NA
chr20,470606,470606,-,A,P286189_T,CSNK2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSNK2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42157739,42157740,TC,-,P286189_T,L3MBTL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,L3MBTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10606360,10606360,G,-,P286189_T,TEKT4P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TEKT4P2;TPTE,dist=637766;dist=299827,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17250088,17250088,-,T,P286189_T,USP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18358448,18358448,-,AAA,P286189_T,MICAL3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MICAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35659293,35659293,-,T,P286189_T,HMGXB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGXB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38979177,38979177,T,-,P286189_T,FAM227A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FAM227A,NM_001291030:c.*2953delA;NM_001013647:c.*2953delA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44258339,44258339,-,CCCGCA,P286189_T,SULT4A1,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,SULT4A1,NM_014351:c.-78_-77insTGCGGG,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19363864,19363864,C,-,P286189_T,PDHA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDHA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53629650,53629651,AT,-,P286189_T,HUWE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,111000722,111000722,T,-,P286189_T,ALG13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,138670607,138670607,A,-,P286189_T,MCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1588745,1588747,GCG,-,P293977_F,CDK11B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1588808,1588808,-,A,P293977_F,CDK11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2303348,2303348,A,-,P293977_F,MORN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19465748,19465751,AAAC,-,P293977_F,UBR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33146114,33146114,T,-,P293977_F,RBBP4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RBBP4;SYNC,NM_005610:c.*808delT;NM_001135255:c.*808delT;NM_001135256:c.*808delT;NM_001161708:c.*1275delA;NM_030786:c.*1337delA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40545936,40545936,-,A,P293977_F,PPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46166994,46166994,T,-,P293977_F,IPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,74574558,74574558,-,A,P293977_F,LRRIQ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRIQ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,97700329,97700329,-,T,P293977_F,DPYD-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DPYD-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100671861,100671861,T,-,P293977_F,DBT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161680413,161680413,-,A,P293977_F,FCRLA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRLA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179975728,179975728,T,-,P293977_F,CEP350,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP350,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,180757007,180757007,-,T,P293977_F,XPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,193149407,193149407,A,-,P293977_F,B3GALT2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,B3GALT2,NM_003783:c.*17delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223933254,223933255,TT,-,P293977_F,CAPN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAPN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237634211,237634212,AG,-,P293977_F,RYR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,15676457,15676457,A,-,P293977_F,NBAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38791251,38791251,-,T,P293977_F,HNRNPLL,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HNRNPLL,NM_138394:c.*72_*73insA;NM_001142650:c.*72_*73insA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70351108,70351108,-,A,P293977_F,LINC01816,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,LINC01816,dist=60,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71365546,71365548,ATT,-,P293977_F,MPHOSPH10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MPHOSPH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,87205189,87205190,TT,-,P293977_F,RGPD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RGPD1;RGPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,112873645,112873645,-,T,P293977_F,TMEM87B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM87B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202195695,202195695,T,-,P293977_F,FLACC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLACC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219414447,219414447,-,A,P293977_F,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220082340,220082340,-,G,P293977_F,ABCB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231741430,231741430,-,C,P293977_F,ITM2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITM2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12584747,12584747,-,T,P293977_F,MKRN2OS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MKRN2OS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33648823,33648823,-,T,P293977_F,CLASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49002515,49002516,GT,-,P293977_F,ARIH2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARIH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50137325,50137325,-,CT,P293977_F,RBM5-AS1,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,RBM5-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,54157464,54157469,GTGTGC,-,P293977_F,CACNA2D3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CACNA2D3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57322933,57322934,AG,-,P293977_F,ASB14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ASB14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58407308,58407308,G,-,P293977_F,PXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58723032,58723033,CA,-,P293977_F,FAM3D,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,FAM3D;C3orf67,dist=70531;dist=4702,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65361098,65361098,-,AG,P293977_F,MAGI1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MAGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,69154122,69154122,A,-,P293977_F,ARL6IP5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARL6IP5,NM_006407:c.*335delA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122215166,122215166,-,AC,P293977_F,KPNA1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,KPNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130365174,130365174,-,T,P293977_F,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130653387,130653387,T,-,P293977_F,ATP2C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138456487,138456488,AT,-,P293977_F,PIK3CB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIK3CB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148930107,148930107,A,-,P293977_F,CP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195022932,195022932,A,-,P293977_F,ACAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,27004738,27004738,A,-,P293977_F,STIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39279672,39279672,A,-,P293977_F,WDR19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,56739013,56739013,-,T,P293977_F,EXOC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103585673,103585674,TT,-,P293977_F,MANBA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MANBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146650450,146650450,T,-,P293977_F,C4orf51,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C4orf51,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,164049986,164049986,A,-,P293977_F,NAF1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NAF1,NM_138386:c.*63delT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37326074,37326074,A,-,P293977_F,NUP155,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68862364,68862365,GG,-,P293977_F,GTF2H2B,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,GTF2H2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,93808238,93808238,-,A,P293977_F,KIAA0825,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0825,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140038139,140038140,AA,-,P293977_F,IK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,159833355,159833355,-,T,P293977_F,SLU7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLU7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179665270,179665270,A,-,P293977_F,MAPK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10926514,10926514,-,T,P293977_F,SYCP2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24589046,24589046,-,A,P293977_F,KIAA0319,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0319,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51949837,51949837,A,-,P293977_F,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88313300,88313300,-,T,P293977_F,ORC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ORC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117073906,117073907,TA,-,P293977_F,FAM162B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM162B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,125233391,125233397,ATGGTAT,-,P293977_F,RNF217-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,RNF217-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160133058,160133058,A,-,P293977_F,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161139247,161139247,-,C,P293977_F,PLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5535598,5535606,CCCACAAAA,-,P293977_F,FBXL18,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBXL18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,23728489,23728490,AG,-,P293977_F,FAM221A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM221A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,29407519,29407520,TC,-,P293977_F,CHN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CHN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,34085894,34085894,-,T,P293977_F,BMPER,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMPER,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56088983,56088983,-,C,P293977_F,PSPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99702417,99702417,-,CACT,P293977_F,AP4M1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,AP4M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142120188,142120188,-,CG,P293977_F,TRY2P,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,TRY2P;MIR11400,dist=148120;dist=37154,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151836879,151836879,A,-,P293977_F,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12584628,12584628,-,TT,P293977_F,LONRF1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LONRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30494375,30494376,AA,-,P293977_F,GTF2E2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GTF2E2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,118811806,118811806,-,T,P293977_F,EXT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EXT1,NM_000127:c.*144_*145insA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34407035,34407035,-,GG,P293977_F,FAM219A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FAM219A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36589411,36589411,-,T,P293977_F,MELK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MELK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,32098255,32098256,TG,-,P293977_F,ARHGAP12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGAP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94366569,94366569,T,-,P293977_F,KIF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103905081,103905081,G,-,P293977_F,PPRC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104238623,104238627,GGTGT,-,P293977_F,ACTR1A,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,ACTR1A,dist=359,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105907551,105907554,AAGG,-,P293977_F,CFAP43,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CFAP43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61088879,61088879,T,-,P293977_F,DDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65616592,65616592,-,CAA,P293977_F,SNX32,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SNX32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72353429,72353432,CCGC,-,P293977_F,PDE2A,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,PDE2A,NM_001243784:c.-113_-116delGCGG;NM_001143839:c.-9_-12delGCGG,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94602310,94602310,A,-,P293977_F,AMOTL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMOTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118266809,118266809,A,-,P293977_F,LOC100131626,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100131626,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,306351,306351,C,-,P293977_F,SLC6A12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC6A12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6682042,6682042,A,-,P293977_F,CHD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6934077,6934078,CA,-,P293977_F,GPR162,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GPR162,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31246404,31246404,-,T,P293977_F,DDX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,32884095,32884095,-,A,P293977_F,DNM1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNM1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48880079,48880079,A,-,P293977_F,C12orf54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57033554,57033554,A,-,P293977_F,ATP5F1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5F1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,65449108,65449108,-,T,P293977_F,WIF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,106903453,106903453,A,-,P293977_F,LOC100287944,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100287944,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109052813,109052814,AG,-,P293977_F,CORO1C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CORO1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113645153,113645153,A,-,P293977_F,IQCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120654922,120654927,AGGGGG,-,P293977_F,PXN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PXN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24468417,24468417,-,TG,P293977_F,C1QTNF9B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,C1QTNF9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,33332209,33332209,T,-,P293977_F,PDS5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDS5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,48954283,48954283,T,-,P293977_F,RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,60707132,60707132,-,A,P293977_F,DIAPH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIAPH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,109717874,109717874,-,A,P293977_F,MYO16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,115002097,115002097,-,T,P293977_F,CDC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,33408617,33408619,CCG,-,P293977_F,NPAS3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NPAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50099873,50099873,-,AG,P293977_F,DNAAF2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DNAAF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,52741747,52741747,A,-,P293977_F,PTGDR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTGDR,NM_001281469:c.*345delA;NM_000953:c.*65delA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,59942953,59942953,-,CAAC,P293977_F,L3HYPDH,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,L3HYPDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,63417319,63417319,-,A,P293977_F,KCNH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,67790333,67790334,AT,-,P293977_F,MPP5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MPP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,73959864,73959864,A,-,P293977_F,RIOX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RIOX1,NM_024644:c.*217delA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,81362142,81362142,-,A,P293977_F,CEP128,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89073738,89073741,AGTG,-,P293977_F,ZC3H14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZC3H14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34065659,34065659,T,-,P293977_F,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41826774,41826774,-,CT,P293977_F,RPAP1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RPAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59970049,59970049,-,A,P293977_F,BNIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,77300138,77300138,-,T,P293977_F,PSTPIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSTPIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20673012,20673013,AC,-,P293977_F,ACSM1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ACSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56892213,56892213,-,T,P293977_F,MIR138-2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR138-2,dist=217,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84103646,84103646,A,-,P293977_F,MBTPS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBTPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89916479,89916479,-,AG,P293977_F,SPIRE2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SPIRE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843745,29843745,-,A,P293977_F,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38334105,38334105,G,-,P293977_F,RAPGEFL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RAPGEFL1,NM_016339:c.-10del-,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40881034,40881034,A,-,P293977_F,EZH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EZH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,55075648,55075648,-,GC,P293977_F,SCPEP1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SCPEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,55075650,55075650,G,-,P293977_F,SCPEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCPEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58012768,58012768,-,A,P293977_F,RPS6KB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73145285,73145285,A,-,P293977_F,JPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21422555,21422556,TC,-,P293977_F,LAMA3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LAMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29433914,29433914,A,-,P293977_F,TRAPPC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44424652,44424652,T,-,P293977_F,PIAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1044496,1044496,-,T,P293977_F,ABCA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5775383,5775383,-,T,P293977_F,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12774020,12774020,-,CC,P293977_F,MAN2B1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MAN2B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34663526,34663526,-,GG,P293977_F,LSM14A,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,LSM14A,NM_001114093:c.-22_-21insGG;NM_015578:c.-22_-21insGG,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39823534,39823535,AG,-,P293977_F,GMFG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GMFG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45556302,45556302,-,G,P293977_F,CLASRP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASRP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25900322,25900322,-,AAA,P293977_F,LOC101926935,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,LOC101926935;LINC01733,dist=65665;dist=36126,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31466363,31466367,TCGGA,-,P293977_F,EFCAB8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31466370,31466371,GC,-,P293977_F,EFCAB8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33896778,33896778,-,A,P293977_F,UQCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UQCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48500779,48500779,G,-,P293977_F,SLC9A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30400155,30400155,T,-,P293977_F,USP16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34903237,34903237,A,-,P293977_F,GART,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GART,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37518922,37518922,T,-,P293977_F,CBR3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CBR3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,42838094,42838094,A,-,P293977_F,TMPRSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15822073,15822073,A,-,P293977_F,ZRSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZRSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,84309335,84309335,T,-,P293977_F,APOOL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOOL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1588745,1588747,GCG,-,P293977_S,CDK11B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2303348,2303348,A,-,P293977_S,MORN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,15710494,15710495,AT,-,P293977_S,FHAD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FHAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23843181,23843181,-,GCTGTTTCT,P293977_S,E2F2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,E2F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46737949,46737950,AG,-,P293977_S,RAD54L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RAD54L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52947434,52947435,TA,-,P293977_S,TUT4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TUT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,96461539,96461539,-,A,P293977_S,LINC02790,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02790,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100671861,100671861,T,-,P293977_S,DBT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DBT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103364485,103364485,T,-,P293977_S,COL11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109955454,109955454,A,-,P293977_S,PSMA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155988253,155988253,T,-,P293977_S,SSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,244662207,244662207,-,A,P293977_S,CATSPERE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24413559,24413561,AAG,-,P293977_S,FAM228A,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,FAM228A,NM_001040710:c.*59_*61delAAG,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71365546,71365548,ATT,-,P293977_S,MPHOSPH10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MPHOSPH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114369806,114369806,-,CTT,P293977_S,RPL23AP7,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,RPL23AP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,133636237,133636238,AC,-,P293977_S,NCKAP5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NCKAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220028818,220028821,ATCC,-,P293977_S,SLC23A3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC23A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,225719535,225719535,A,-,P293977_S,DOCK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9757367,9757367,-,T,P293977_S,CPNE9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPNE9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122215166,122215166,-,AC,P293977_S,KPNA1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,KPNA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130365174,130365174,-,T,P293977_S,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138453783,138453783,A,-,P293977_S,PIK3CB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,158388721,158388721,-,AAAGAAA,P293977_S,GFM1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GFM1;LXN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,10515444,10515444,T,-,P293977_S,CLNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,27004738,27004738,A,-,P293977_S,STIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71110506,71110506,T,-,P293977_S,CSN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103245558,103245558,A,-,P293977_S,SLC39A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,140039107,140039107,-,A,P293977_S,ELF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,174235080,174235081,AT,-,P293977_S,GALNT7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GALNT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,184619036,184619037,GT,-,P293977_S,TRAPPC11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRAPPC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1034267,1034269,CCC,-,P293977_S,NKD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NKD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34822965,34822968,TTTT,-,P293977_S,RAI14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RAI14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,50045967,50045967,G,-,P293977_S,PARP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55252985,55252985,A,-,P293977_S,IL6ST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL6ST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68739028,68739028,T,-,P293977_S,MARVELD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MARVELD2,NM_001244734:c.*1547delT;NM_001038603:c.*1547delT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94006042,94006042,T,-,P293977_S,SLF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,98218734,98218734,-,A,P293977_S,CHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,125809073,125809073,A,-,P293977_S,GRAMD2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44149154,44149155,CA,-,P293977_S,CAPN11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAPN11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,45333094,45333094,A,-,P293977_S,RUNX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNX2;SUPT3H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,46190804,46190804,T,-,P293977_S,RCAN2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RCAN2,NM_001251974:c.*74delA;NM_001251973:c.*74delA;NM_005822:c.*74delA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70609058,70609058,T,-,P293977_S,COL19A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL19A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,99998073,99998073,A,-,P293977_S,CCNC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,108533548,108533548,-,T,P293977_S,SNX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,130761533,130761533,T,-,P293977_S,TMEM200A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM200A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136552808,136552809,AA,-,P293977_S,MTFR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MTFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,150039180,150039182,CCG,-,P293977_S,LOC645967,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LOC645967,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,155126696,155126696,T,-,P293977_S,SCAF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1167118,1167118,A,-,P293977_S,C7orf50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C7orf50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6151400,6151400,-,T,P293977_S,USP42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,36570178,36570178,A,-,P293977_S,AOAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AOAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107564537,107564538,GG,-,P293977_S,LAMB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LAMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,114562947,114562947,-,T,P293977_S,MDFIC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDFIC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142120188,142120188,-,CG,P293977_S,TRY2P,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,TRY2P;MIR11400,dist=148120;dist=37154,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151836879,151836879,A,-,P293977_S,KMT2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,85441503,85441507,TTTGT,-,P293977_S,RALYL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RALYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86180907,86180907,T,-,P293977_S,CA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104922219,104922220,TA,-,P293977_S,RIMS2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,126015401,126015401,T,-,P293977_S,SQLE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SQLE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,3937254,3937254,-,A,P293977_S,GLIS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLIS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79852900,79852900,-,T,P293977_S,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130536197,130536197,A,-,P293977_S,SH2D3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2D3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133950949,133950949,-,A,P293977_S,LAMC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138363435,138363435,-,C,P293977_S,PPP1R26-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PPP1R26-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,21076247,21076250,AAAC,-,P293977_S,NEBL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NEBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,32327038,32327038,A,-,P293977_S,KIF5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,47744819,47744820,AT,-,P293977_S,FAM25BP,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,FAM25BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,49400634,49400634,A,-,P293977_S,FRMPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,51537112,51537112,-,A,P293977_S,TIMM23B-AGAP6,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TIMM23B-AGAP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95107272,95107278,GCAGTCC,-,P293977_S,MYOF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95718362,95718381,TTTCTTTCTTTCTTTCTTTC,-,P293977_S,PIPSL,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,PIPSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99198403,99198403,A,-,P293977_S,EXOSC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104449586,104449586,-,A,P293977_S,ARL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105990647,105990647,-,T,P293977_S,CFAP43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,120445457,120445457,T,-,P293977_S,CACUL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CACUL1,NM_153810:c.*183delA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,903782,903782,A,-,P293977_S,CHID1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHID1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3727918,3727918,T,-,P293977_S,NUP98,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP98,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,12248460,12248460,-,A,P293977_S,MICAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18428552,18428552,-,A,P293977_S,LDHA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDHA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,48388094,48388094,-,TT,P293977_S,OR4C5,5'Flank,NA,NA,NA,NA,INS,SNVindel,upstream,OR4C5,dist=54,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77436579,77436579,-,A,P293977_S,RSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,110128926,110128926,A,-,P293977_S,RDX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RDX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118266809,118266809,A,-,P293977_S,LOC100131626,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100131626,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6934077,6934078,CA,-,P293977_S,GPR162,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GPR162,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10251257,10251257,A,-,P293977_S,CLEC1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21639386,21639386,A,-,P293977_S,RECQL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RECQL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57033554,57033554,A,-,P293977_S,ATP5F1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5F1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62717784,62717784,T,-,P293977_S,USP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94688219,94688219,A,-,P293977_S,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,107360876,107360876,-,T,P293977_S,TMEM263,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM263,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120636136,120636137,GG,-,P293977_S,RPLP0,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RPLP0,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120990203,120990203,A,-,P293977_S,RNF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,38143326,38143327,TT,-,P293977_S,POSTN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,POSTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95816030,95816030,A,-,P293977_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,115002098,115002098,T,-,P293977_S,CDC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20837189,20837189,A,-,P293977_S,TEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,67809927,67809927,T,-,P293977_S,ATP6V1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75503267,75503267,-,G,P293977_S,MLH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,81259488,81259493,ATCCTT,-,P293977_S,CEP128,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CEP128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40954186,40954186,-,CG,P293977_S,KNL1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,KNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64675036,64675036,-,C,P293977_S,PCLAF,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PCLAF;TRIP4,dist=1396;dist=4999,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66794299,66794299,A,-,P293977_S,RPL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,73594014,73594014,-,T,P293977_S,NEO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3338252,3338253,AA,-,P293977_S,ZNF263,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF263,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,25264171,25264173,GGT,-,P293977_S,ZKSCAN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZKSCAN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58709251,58709251,A,-,P293977_S,SLC38A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89785357,89785358,AG,-,P293977_S,VPS9D1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VPS9D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89785363,89785363,-,C,P293977_S,VPS9D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS9D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1581124,1581124,-,A,P293977_S,PRPF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6558635,6558636,GT,-,P293977_S,MIR4520-2,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MIR4520-2;MIR4520-1,dist=123;dist=123,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17769290,17769291,AG,-,P293977_S,TOM1L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TOM1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34147533,34147533,-,T,P293977_S,TAF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40055051,40055051,-,A,P293977_S,ACLY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41108010,41108011,AC,-,P293977_S,AARSD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AARSD1;PTGES3L-AARSD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,59858090,59858092,AAC,-,P293977_S,BRIP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60033943,60033946,TGGA,-,P293977_S,MED13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MED13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61899577,61899577,-,T,P293977_S,FTSJ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FTSJ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,7026190,7026190,A,-,P293977_S,LAMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44424652,44424652,T,-,P293977_S,PIAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,53255635,53255635,A,-,P293977_S,TCF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,53298494,53298494,-,G,P293977_S,TCF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,53302740,53302740,A,-,P293977_S,TCF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,57014813,57014813,A,-,P293977_S,LMAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,58290475,58290475,-,TT,P293977_S,MC4R,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,MC4R;CDH20,dist=250467;dist=710188,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5685335,5685335,-,CC,P293977_S,HSD11B1L,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,HSD11B1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10449990,10449991,GT,-,P293977_S,ICAM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ICAM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15564412,15564412,-,T,P293977_S,RASAL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34663526,34663526,-,GG,P293977_S,LSM14A,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,LSM14A,NM_001114093:c.-22_-21insGG;NM_015578:c.-22_-21insGG,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42620991,42620993,GAG,-,P293977_S,POU2F2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,POU2F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42863557,42863557,-,T,P293977_S,MEGF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,58871135,58871135,C,-,P293977_S,ZNF497,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF497,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3928693,3928693,-,A,P293977_S,RNF24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34797356,34797357,TC,-,P293977_S,EPB41L1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPB41L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33974094,33974094,-,T,P293977_S,CFAP298,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CFAP298,NM_021254:c.*78_*79insA;NM_001350334:c.*78_*79insA;NM_001350336:c.*78_*79insA;NM_001350335:c.*1304_*1305insA;NM_001350337:c.*439_*440insA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,35183100,35183100,T,-,P293977_S,ITSN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITSN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40549512,40549512,-,A,P293977_S,PSMG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,16909896,16909897,AC,-,P293977_S,OR11H1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,OR11H1;CCT8L2,dist=460092;dist=161744,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20739080,20739080,-,A,P293977_S,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=32296;dist=9325,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16721146,16721146,T,-,P293977_S,CTPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24089989,24089989,-,T,P293977_S,EIF2S3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2S3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24517161,24517161,-,T,P293977_S,PDK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,71887425,71887432,TGAATATG,-,P293977_S,PHKA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHKA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,77110822,77110822,-,A,P293977_S,MAGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,135957965,135957965,-,T,P293977_S,RBMX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBMX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10292360,10292361,AT,-,P294163_F,KIF1B,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,KIF1B,NM_001365951:c.-27_-26del-;NM_183416:c.-27_-26del-;NM_015074:c.-27_-26del-;NM_001365952:c.-27_-26del-;NM_001365953:c.-27_-26del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,29063572,29063574,GCC,-,P294163_F,YTHDF2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,YTHDF2,NM_001173128:c.-61_-59del-;NM_001172828:c.-5361_-5359del-;NM_016258:c.-61_-59del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,61543223,61543223,A,-,P294163_F,NFIA,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NFIA,NM_001145511:c.-75del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114401807,114401810,TGAA,-,P294163_F,AP4B1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,AP4B1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150601454,150601454,-,T,P294163_F,ENSA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENSA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161208926,161208926,-,T,P294163_F,NR1I3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NR1I3,dist=926,NA,NA,NA,NA,NA,NA,NA,NA
chr1,185153565,185153565,A,-,P294163_F,SWT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SWT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206592578,206592579,TC,-,P294163_F,SRGAP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SRGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229385706,229385707,TC,-,P294163_F,MIR4454,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,MIR4454;LOC105373159,dist=75158;dist=6932,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27716113,27716114,AG,-,P294163_F,FNDC4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FNDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37104946,37104946,-,G,P294163_F,STRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135740973,135740974,AG,-,P294163_F,MAP3K19,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAP3K19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,204355768,204355768,A,-,P294163_F,RAPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219447911,219447912,AA,-,P294163_F,CNOT9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CNOT9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33155542,33155545,CCTT,-,P294163_F,CRTAP,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CRTAP,NM_006371:c.-28_-25del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,63825250,63825253,TTGA,-,P294163_F,C3orf49,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C3orf49;THOC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160131237,160131238,TT,-,P294163_F,TRIM59-IFT80,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,TRIM59-IFT80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,168808038,168808038,-,A,P294163_F,MECOM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MECOM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169687034,169687034,A,-,P294163_F,SEC62,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC62,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183706858,183706859,GA,-,P294163_F,ABCC5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184714085,184714088,TTTG,-,P294163_F,VPS8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,27019137,27019137,T,-,P294163_F,STIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,170483152,170483152,-,A,P294163_F,NEK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,16465058,16465059,AC,-,P294163_F,ZNF622,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF622,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37752732,37752732,T,-,P294163_F,WDR70,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WDR70,NM_001345998:c.*57delT;NM_018034:c.*57delT;NM_001345999:c.*57delT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,71500889,71500889,T,-,P294163_F,MAP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122734725,122734725,A,-,P294163_F,CEP120,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP120,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,2966558,2966558,-,T,P294163_F,SERPINB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17102474,17102475,GC,-,P294163_F,STMND1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,STMND1,dist=14,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17951669,17951669,A,-,P294163_F,KIF13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24666320,24666320,-,A,P294163_F,TDP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26467773,26467774,CA,-,P294163_F,BTN2A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BTN2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,882814,882815,TG,-,P294163_F,SUN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SUN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,20180426,20180427,AC,-,P294163_F,MACC1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MACC1,NM_182762:c.*143_*142delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99447496,99447516,TTTTTGTAAACTTCTGAACAT,-,P294163_F,CYP3A43,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CYP3A43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,121691414,121691415,TG,-,P294163_F,PTPRZ1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127026341,127026342,CG,-,P294163_F,ZNF800,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF800,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138417538,138417538,-,A,P294163_F,ATP6V0A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V0A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38195853,38195853,-,A,P294163_F,NSD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,73926356,73926357,GT,-,P294163_F,TERF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TERF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,98787734,98787734,A,-,P294163_F,LAPTM4B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LAPTM4B,dist=282,NA,NA,NA,NA,NA,NA,NA,NA
chr8,99121076,99121077,AA,-,P294163_F,RIDA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35825542,35825544,TTC,-,P294163_F,FAM221B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM221B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,71852904,71852904,-,T,P294163_F,TJP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TJP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130913606,130913606,G,-,P294163_F,LCN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,28822424,28822426,CCG,-,P294163_F,WAC,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,WAC,NM_016628:c.-85_-83del-;NM_100486:c.-85_-83del-,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70174962,70174962,-,A,P294163_F,DNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,72043218,72043219,CA,-,P294163_F,NPFFR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NPFFR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99198508,99198509,TT,-,P294163_F,EXOSC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EXOSC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,112769710,112769710,T,-,P294163_F,SHOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,35441682,35441682,-,T,P294163_F,SLC1A2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SLC1A2,dist=77,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61314194,61314196,CAC,-,P294163_F,SYT7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,85421990,85421990,A,-,P294163_F,SYTL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108712025,108712025,-,T,P294163_F,DDX10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6058813,6058813,A,-,P294163_F,VWF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21794869,21794869,-,T,P294163_F,LDHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,30822227,30822227,A,-,P294163_F,IPO8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPO8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40929482,40929482,-,T,P294163_F,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53571739,53571739,A,-,P294163_F,CSAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56115974,56115974,-,C,P294163_F,BLOC1S1-RDH5,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BLOC1S1-RDH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56999550,56999550,T,-,P294163_F,BAZ2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAZ2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96381675,96381675,-,G,P294163_F,HAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50087175,50087175,T,-,P294163_F,PHF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF11;SETDB2-PHF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20837189,20837189,A,-,P294163_F,TEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22520598,22520598,A,-,P294163_F,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=381366;dist=327210,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31575374,31575374,A,-,P294163_F,HECTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39597471,39597471,T,-,P294163_F,GEMIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEMIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96135801,96135801,-,AG,P294163_F,TCL6,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,TCL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100772505,100772509,CCCGG,-,P294163_F,SLC25A29,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC25A29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65804974,65804974,-,A,P294163_F,DPP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4546128,4546128,T,-,P294163_F,HMOX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,7645761,7645762,TA,-,P294163_F,RBFOX1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBFOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15162144,15162144,A,-,P294163_F,PDXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXDC1;RRN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68880406,68880406,T,-,P294163_F,TANGO6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TANGO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,72107693,72107694,GT,-,P294163_F,HPR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,72923387,72923387,A,-,P294163_F,ZFHX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFHX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81058306,81058306,T,-,P294163_F,CENPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843745,29843745,-,A,P294163_F,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62602763,62602763,A,-,P294163_F,SMURF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMURF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19021347,19021347,T,-,P294163_F,GREB1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GREB1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9579640,9579640,-,GG,P294163_F,ZNF560,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ZNF560,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11113476,11113477,AA,-,P294163_F,SMARCA4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SMARCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17631541,17631544,AAAT,-,P294163_F,PGLS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PGLS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17943035,17943035,-,A,P294163_F,JAK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45647096,45647096,T,-,P294163_F,PPP1R37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47909793,47909793,A,-,P294163_F,MEIS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54200830,54200830,A,-,P294163_F,MIR525,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR525,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56811400,56811400,C,-,P294163_F,PPP4R1L,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PPP4R1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,35183100,35183100,T,-,P294163_F,ITSN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITSN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,42838093,42838093,-,A,P294163_F,TMPRSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24459700,24459701,TG,-,P294163_F,CABIN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CABIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70340693,70340693,-,AA,P294163_F,MED12,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MED12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,74698828,74698828,A,-,P294163_F,ZDHHC15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,77393384,77393384,A,-,P294163_F,TAF9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,132796035,132796035,A,-,P294163_F,GPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,148582574,148582574,A,-,P294163_F,IDS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22180194,22180195,CA,-,P294163_S,HSPG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HSPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,68955353,68955353,T,-,P294163_S,DEPDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEPDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,121116645,121116645,T,-,P294163_S,SRGAP2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SRGAP2-AS1;SRGAP2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144918011,144918011,-,A,P294163_S,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,180757008,180757008,T,-,P294163_S,XPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,185153565,185153565,A,-,P294163_S,SWT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SWT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237924230,237924230,-,T,P294163_S,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11913728,11913728,T,-,P294163_S,LPIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20478331,20478331,-,T,P294163_S,PUM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24345197,24345197,A,-,P294163_S,FAM228B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM228B;PFN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43768234,43768234,A,-,P294163_S,THADA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THADA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61128286,61128287,TT,-,P294163_S,REL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,REL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61546218,61546218,A,-,P294163_S,USP34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,62065616,62065616,A,-,P294163_S,FAM161A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM161A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,68274081,68274081,T,-,P294163_S,C1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80136693,80136693,-,TG,P294163_S,CTNNA2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113127810,113127810,A,-,P294163_S,RGPD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD5;RGPD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,182389029,182389029,G,-,P294163_S,ITGA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198360214,198360214,T,-,P294163_S,HSPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202060401,202060401,T,-,P294163_S,CASP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,211466713,211466713,-,AT,P294163_S,CPS1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,222431349,222431349,-,A,P294163_S,EPHA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,223065754,223065755,AC,-,P294163_S,PAX3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,PAX3,NM_181458:c.*373_*372delGT;NM_181460:c.*186_*185delGT;NM_181461:c.*369_*368delGT;NM_181459:c.*139_*138delGT;NM_001127366:c.*373_*372delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9000767,9000767,-,A,P294163_S,RAD18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,88178218,88178218,A,-,P294163_S,CGGBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CGGBP1;ZNF654,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108175734,108175734,-,A,P294163_S,MYH15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,120500562,120500562,-,T,P294163_S,GTF2E1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GTF2E1,NM_005513:c.*245_*246insT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130365174,130365174,-,T,P294163_S,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,137988855,137988855,-,T,P294163_S,ARMC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC8;NME9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,158460145,158460145,T,-,P294163_S,RARRES1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RARRES1;MFSD1,dist=9870;dist=59698,NA,NA,NA,NA,NA,NA,NA,NA
chr4,10023301,10023301,T,-,P294163_S,SLC2A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,37688027,37688027,-,CCCCG,P294163_S,RELL1,5'Flank,NA,NA,NA,NA,INS,SNVindel,upstream,RELL1,dist=29,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166910816,166910816,T,-,P294163_S,TLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,16572323,16572323,T,-,P294163_S,RETREG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RETREG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43294014,43294014,G,-,P294163_S,HMGCS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGCS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,53371316,53371316,T,-,P294163_S,ARL15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,65372794,65372794,T,-,P294163_S,ERBIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERBIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122267539,122267539,T,-,P294163_S,SNX24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,2966558,2966558,-,T,P294163_S,SERPINB6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,50681661,50681661,T,-,P294163_S,TFAP2D,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TFAP2D,NM_172238:c.-108del-,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109726262,109726262,-,A,P294163_S,PPIL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,119511120,119511120,-,A,P294163_S,MAN1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,166578165,166578165,-,A,P294163_S,TBXT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBXT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141752006,141752006,-,T,P294163_S,MGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12453544,12453544,C,-,P294163_S,LOC729732,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC729732,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,20007101,20007102,CT,-,P294163_S,SLC18A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,59346908,59346909,AT,-,P294163_S,UBXN2B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBXN2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,99121076,99121077,AA,-,P294163_S,RIDA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100221794,100221794,-,T,P294163_S,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,27454966,27454966,-,T,P294163_S,MOB3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOB3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68438558,68438560,CTT,-,P294163_S,FRG1JP,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,FRG1JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79852900,79852900,-,T,P294163_S,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86004829,86004830,AC,-,P294163_S,FRMD3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FRMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6273170,6273170,-,T,P294163_S,PFKFB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKFB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15559328,15559328,T,-,P294163_S,ITGA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,17365229,17365230,CA,-,P294163_S,ST8SIA6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ST8SIA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94774083,94774083,T,-,P294163_S,EXOC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124924485,124924486,TT,-,P294163_S,BUB3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,BUB3,NM_004725:c.*1134_*1135delTT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,35440400,35440402,CCG,-,P294163_S,SLC1A2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46699468,46699468,-,G,P294163_S,ARHGAP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ARHGAP1,NM_004308:c.*1118_*1119insC,NA,NA,NA,NA,NA,NA,NA,NA
chr11,58331615,58331615,-,A,P294163_S,LPXN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPXN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63078478,63078478,-,A,P294163_S,SLC22A10,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SLC22A10,NM_001039752:exon10:c.1599-1->A,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75316788,75316788,A,-,P294163_S,MAP6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MAP6,NM_207577:c.*61delT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89534159,89534159,-,A,P294163_S,TRIM49,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118883880,118883880,-,T,P294163_S,CCDC84,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118889386,118889388,GGA,-,P294163_S,RPS25,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,RPS25;TRAPPC4,dist=88,NA,NA,NA,NA,NA,NA,NA,NA
chr12,29493723,29493723,T,-,P294163_S,ERGIC2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ERGIC2,NM_016570:c.*366delA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,30814044,30814048,TATTA,-,P294163_S,IPO8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IPO8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40929482,40929482,-,T,P294163_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21244960,21244960,T,-,P294163_S,IFT88,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT88,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20837189,20837189,A,-,P294163_S,TEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22520598,22520598,A,-,P294163_S,OR4E1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4E1;LOC105370401,dist=381366;dist=327210,NA,NA,NA,NA,NA,NA,NA,NA
chr14,59003712,59003712,-,T,P294163_S,KIAA0586,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0586,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96924630,96924630,A,-,P294163_S,AK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100589682,100589683,GA,-,P294163_S,EVL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EVL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,53905821,53905821,A,-,P294163_S,WDR72,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR72,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,84740817,84740817,-,A,P294163_S,ADAMTSL3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADAMTSL3;EFL1P1,dist=32224;dist=8122,NA,NA,NA,NA,NA,NA,NA,NA
chr16,12059969,12059972,AAAT,-,P294163_S,TNFRSF17,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNFRSF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3470434,3470435,CT,-,P294163_S,TRPV1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRPV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15984135,15984135,A,-,P294163_S,NCOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,31439098,31439099,AG,-,P294163_S,ASIC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ASIC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,41330235,41330235,A,-,P294163_S,NBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44069147,44069147,-,TT,P294163_S,MAPT,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MAPT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57311747,57311747,-,A,P294163_S,GDPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78224942,78224942,-,T,P294163_S,SLC26A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC26A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,46736201,46736201,-,A,P294163_S,DYM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,47313630,47313630,-,AAAA,P294163_S,ACAA2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ACAA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2733502,2733503,GA,-,P294163_S,SLC39A3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC39A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40873490,40873490,A,-,P294163_S,PLD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41072889,41072890,AC,-,P294163_S,SPTBN4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPTBN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47909793,47909793,A,-,P294163_S,MEIS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50760526,50760527,TC,-,P294163_S,MYH14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,20003139,20003139,A,-,P294163_S,NAA20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18068158,18068158,-,A,P294163_S,LOC101929372,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC101929372;SLC25A18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20739080,20739080,-,A,P294163_S,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=32296;dist=9325,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19555582,19555582,A,-,P294163_S,SH3KBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3KBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153672550,153672550,C,-,P294163_S,FAM50A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM50A,NM_004699:c.-33del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,5940092,5940093,CA,-,P299664_F,NPHP4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NPHP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11150817,11150817,T,-,P299664_F,EXOSC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25553878,25553879,AC,-,P299664_F,SYF2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28535044,28535044,-,A,P299664_F,DNAJC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,29842318,29842320,TCT,-,P299664_F,LINC01756,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC01756;LINC01648,dist=165692;dist=644479,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40661121,40661121,-,A,P299664_F,RLF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RLF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45973435,45973435,-,T,P299664_F,MMACHC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMACHC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118166787,118166787,T,-,P299664_F,TENT5C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TENT5C,NM_017709:c.*121delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160535663,160535663,T,-,P299664_F,CD84,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167051419,167051420,AG,-,P299664_F,GPA33,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GPA33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167691354,167691356,GCG,-,P299664_F,MPZL1,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,MPZL1,NM_001146191:c.-35_-33del-;NM_003953:c.-35_-33del-;NM_024569:c.-35_-33del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,198691479,198691480,AT,-,P299664_F,PTPRC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200311674,200311674,C,-,P299664_F,LINC00862,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00862,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229631436,229631436,A,-,P299664_F,NUP133,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP133,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237634211,237634212,AG,-,P299664_F,RYR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,25043917,25043917,C,-,P299664_F,CENPO,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CENPO,NM_024322:c.*1730delC;NM_001199803:c.*1730delC;NM_001322101:c.*1730delC,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37319468,37319469,TA,-,P299664_F,GPATCH11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GPATCH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,38527398,38527399,CT,-,P299664_F,ATL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,109067337,109067337,C,-,P299664_F,GCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128044122,128044122,A,-,P299664_F,ERCC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERCC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,131805980,131805980,G,-,P299664_F,FAM168B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FAM168B,NM_001321747:c.*4058delC;NM_001321748:c.*4058delC;NM_001321744:c.*4058delC;NM_001321743:c.*4058delC;NM_001321746:c.*4058delC;NM_001321745:c.*4058delC;NM_001009993:c.*4058delC,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162081129,162081129,T,-,P299664_F,LOC101929512,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929512,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,169727879,169727879,-,A,P299664_F,SPC25,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SPC25,NM_020675:c.*61_*62insT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,175991970,175991970,A,-,P299664_F,ATF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198338420,198338420,A,-,P299664_F,COQ10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ10B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203424738,203424738,-,A,P299664_F,BMPR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BMPR2,NM_001204:c.*69_*70insA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207604137,207604137,A,-,P299664_F,MDH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10103931,10103931,-,T,P299664_F,FANCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10427117,10427117,A,-,P299664_F,ATP2B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111368480,111368481,TG,-,P299664_F,CD96,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CD96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122354267,122354267,T,-,P299664_F,PARP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196795255,196795255,A,-,P299664_F,DLG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48596037,48596037,A,-,P299664_F,FRYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,56736795,56736798,TTTG,-,P299664_F,EXOC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EXOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,56739013,56739013,-,T,P299664_F,EXOC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,66218918,66218919,TA,-,P299664_F,EPHA5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPHA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68812444,68812444,-,AA,P299664_F,TMPRSS11A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TMPRSS11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78740203,78740203,-,ACACACACACAC,P299664_F,CNOT6L,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,CNOT6L,NM_001365007:c.-42668_-42667insGTGTGTGTGTGT,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83792990,83792990,-,A,P299664_F,SEC31A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC31A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4930067,4930067,-,TG,P299664_F,LINC02114,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,LINC02114;LINC01020,dist=155089;dist=104405,NA,NA,NA,NA,NA,NA,NA,NA
chr5,21751715,21751715,-,AGAA,P299664_F,CDH12,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,CDH12,NM_001364104:c.*130_*131insTTCT;NM_001364105:c.*130_*131insTTCT;NM_001364106:c.*130_*131insTTCT;NM_004061:c.*130_*131insTTCT;NM_001317227:c.*130_*131insTTCT;NM_001364109:c.*130_*131insTTCT;NM_001317228:c.*130_*131insTTCT;NM_001364108:c.*130_*131insTTCT;NM_001364107:c.*130_*131insTTCT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70766416,70766416,T,-,P299664_F,BDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,110560138,110560140,GCG,-,P299664_F,CAMK4,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CAMK4,NM_001323375:c.-44_-42del-;NM_001323374:c.-44_-42del-;NM_001744:c.-44_-42del-;NM_001323376:c.-224730_-224728del-;NM_001323377:c.-224730_-224728del-,NA,NA,NA,NA,NA,NA,NA,NA
chr5,115167564,115167564,-,A,P299664_F,ATG12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131792640,131792640,T,-,P299664_F,C5orf56,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,C5orf56,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167644115,167644116,GA,-,P299664_F,TENM2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TENM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,170626448,170626448,A,-,P299664_F,RANBP17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,170813892,170813892,-,A,P299664_F,MIR3912,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR3912;NPM1,dist=228,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180424090,180424091,GA,-,P299664_F,BTNL3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BTNL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,12038110,12038110,-,T,P299664_F,HIVEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIVEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24576546,24576549,AGAC,-,P299664_F,KIAA0319,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KIAA0319,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33408466,33408467,TC,-,P299664_F,SYNGAP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYNGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43594565,43594565,-,A,P299664_F,GTPBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,100006296,100006296,A,-,P299664_F,CCNC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109818586,109818589,CTCA,-,P299664_F,AK9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,132909592,132909592,-,TA,P299664_F,TAAR5,3'Flank,NA,NA,NA,NA,INS,SNVindel,downstream,TAAR5,dist=139,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136710670,136710670,A,-,P299664_F,MAP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160106071,160106071,A,-,P299664_F,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4901465,4901465,-,CACGTCCCCCACCACCGCGACCTT,P299664_F,PAPOLB,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,PAPOLB,NM_020144:c.-25_-24insAAGGTCGCGGTGGTGGGGGACGTG,NA,NA,NA,NA,NA,NA,NA,NA
chr7,36726137,36726137,T,-,P299664_F,AOAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AOAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63033298,63033298,-,GCT,P299664_F,LOC100287834,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,LOC100287834;MIR4283-1,dist=173879;dist=48170,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63797243,63797243,-,T,P299664_F,ZNF736,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF736,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76069661,76069663,GAG,-,P299664_F,ZP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,77569732,77569732,A,-,P299664_F,PHTF2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PHTF2,NM_001366085:c.*98delA;NM_001366082:c.*98delA;NM_001366088:c.*98delA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,114271580,114271582,CAG,-,P299664_F,FOXP2,Splice_Site,NA,NA,NA,NA,DEL,SNVindel,splicing,FOXP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123324547,123324548,AT,-,P299664_F,WASL,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,WASL,NM_003941:c.*26_*25delAT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140055426,140055427,AG,-,P299664_F,SLC37A3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC37A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,141374031,141374032,AC,-,P299664_F,DENND11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DENND11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142460690,142460690,-,TCTT,P299664_F,PRSS1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PRSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,947911,947911,-,ACAA,P299664_F,DLGAP2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DLGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12598317,12598317,T,-,P299664_F,LONRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LONRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17813217,17813217,-,T,P299664_F,PCM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PCM1,NM_001352659:c.*51_*52insT;NM_001352660:c.*51_*52insT,NA,NA,NA,NA,NA,NA,NA,NA
chr8,24187361,24187362,TG,-,P299664_F,LOC101929294,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC101929294,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39330917,39330918,TC,-,P299664_F,ADAM3A,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ADAM3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,39607084,39607085,GT,-,P299664_F,ADAM2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ADAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74585484,74585484,A,-,P299664_F,STAU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95800324,95800325,TT,-,P299664_F,DPY19L4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPY19L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,108315600,108315600,A,-,P299664_F,ANGPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,126095505,126095505,-,A,P299664_F,WASHC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASHC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133978710,133978713,TCTG,-,P299664_F,TG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33817731,33817733,CGC,-,P299664_F,UBE2R2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,UBE2R2,NM_017811:c.-25_-23del-,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138441218,138441218,C,-,P299664_F,OBP2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBP2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5966536,5966536,T,-,P299664_F,FBH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,20453584,20453584,A,-,P299664_F,PLXDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26512639,26512640,TG,-,P299664_F,GAD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,35483830,35483832,ATT,-,P299664_F,CREM,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CREM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,61012777,61012780,AAAG,-,P299664_F,FAM13C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97725543,97725544,TG,-,P299664_F,ENTPD1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ENTPD1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102056494,102056494,-,A,P299664_F,PKD2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4132640,4132640,-,A,P299664_F,RRM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9628181,9628181,-,AT,P299664_F,WEE1,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,WEE1;SWAP70,dist=16649;dist=57443,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59946131,59946131,A,-,P299664_F,MS4A6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68131124,68131124,-,A,P299664_F,LRP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89796178,89796178,-,A,P299664_F,TRIM49C,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM49C;UBTFL1,dist=20985;dist=22940,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102707522,102707522,-,T,P299664_F,MMP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3982462,3982462,T,-,P299664_F,PARP11,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PARP11,NM_001286521:c.-43382delA;NM_001286522:c.-43382delA;NM_020367:c.-67delA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10275994,10275995,AG,-,P299664_F,CLEC7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLEC7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,14781678,14781678,-,A,P299664_F,GUCY2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15037187,15037187,-,A,P299664_F,MGP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27540143,27540143,T,-,P299664_F,ARNTL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48880079,48880079,A,-,P299664_F,C12orf54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56811590,56811591,GA,-,P299664_F,TIMELESS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TIMELESS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81009908,81009909,AT,-,P299664_F,PTPRQ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102008088,102008089,GT,-,P299664_F,MYBPC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113645153,113645153,A,-,P299664_F,IQCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129410746,129410746,-,TAG,P299664_F,GLT1D1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GLT1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133764702,133764703,TT,-,P299664_F,ZNF268,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF268,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,22275849,22275850,TG,-,P299664_F,FGF9,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,FGF9,NM_002010:c.*275_*276delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr13,33315184,33315184,C,-,P299664_F,PDS5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDS5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46704723,46704723,-,T,P299664_F,LCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111091157,111091157,-,CTCCACA,P299664_F,COL4A2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111099338,111099338,-,A,P299664_F,COL4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,113882222,113882222,A,-,P299664_F,CUL4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20086382,20086382,-,AAAA,P299664_F,POTEM,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,POTEM;OR11H2,dist=66110;dist=94681,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36777406,36777406,-,A,P299664_F,MBIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58600108,58600108,A,-,P299664_F,ARMH4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,67745783,67745783,-,T,P299664_F,MPP5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MPP5,NM_022474:c.-105_-104insT,NA,NA,NA,NA,NA,NA,NA,NA
chr14,81952814,81952814,A,-,P299664_F,SEL1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEL1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88730106,88730106,A,-,P299664_F,KCNK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91072078,91072080,GAG,-,P299664_F,TTC7B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTC7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,97026968,97026968,T,-,P299664_F,PAPOLA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPOLA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104136676,104136676,-,T,P299664_F,KLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,32450491,32450491,T,-,P299664_F,CHRNA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRNA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40951462,40951462,A,-,P299664_F,KNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50546931,50546932,TT,-,P299664_F,HDC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,73594014,73594014,-,T,P299664_F,NEO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78635619,78635620,GT,-,P299664_F,CRABP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CRABP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85451818,85451818,-,C,P299664_F,SLC28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15693012,15693012,A,-,P299664_F,MARF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22579725,22579730,TGTGTA,-,P299664_F,OTOAP1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,OTOAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31380611,31380611,C,-,P299664_F,ITGAX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55844925,55844925,-,AC,P299664_F,CES1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CES1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67670473,67670474,TA,-,P299664_F,CTCF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTCF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,72012412,72012421,ATATATATAC,-,P299664_F,PKD1L3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PKD1L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27591393,27591393,-,TA,P299664_F,NUFIP2,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,NUFIP2,NM_020772:c.*163_*164insTA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30207444,30207444,-,A,P299664_F,UTP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30322882,30322882,A,-,P299664_F,SUZ12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUZ12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40880760,40880760,A,-,P299664_F,EZH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EZH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66265043,66265043,A,-,P299664_F,SLC16A6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC16A6,NM_001174166:c.*194delT;NM_004694:c.*194delT,NA,NA,NA,NA,NA,NA,NA,NA
chr18,33048412,33048412,-,A,P299664_F,INO80C,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,INO80C,NM_001308064:c.*162_*163insT;NM_001098817:c.*162_*163insT;NM_194281:c.*162_*163insT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3772028,3772028,-,G,P299664_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16186814,16186814,C,-,P299664_F,TPM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17396069,17396069,A,-,P299664_F,ANKLE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKLE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41219782,41219782,A,-,P299664_F,COQ8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41712160,41712161,CT,-,P299664_F,CYP2S1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CYP2S1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43919911,43919911,-,A,P299664_F,TEX101,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX101,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45790461,45790462,AA,-,P299664_F,MARK4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MARK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47207219,47207219,C,-,P299664_F,PRKD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53627647,53627648,GA,-,P299664_F,ZNF415,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF415,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54723888,54723888,C,-,P299664_F,LILRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LILRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,17340982,17340982,A,-,P299664_F,PCSK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29628473,29628473,T,-,P299664_F,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42157739,42157740,TC,-,P299664_F,L3MBTL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,L3MBTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909694,10909698,GCGAA,-,P299664_F,TPTE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33982073,33982073,A,-,P299664_F,C21orf59-TCP10L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C21orf59-TCP10L;CFAP298,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37443155,37443155,-,TG,P299664_F,LOC100133286,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100133286,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17690780,17690780,T,-,P299664_F,ADA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,27019178,27019178,T,-,P299664_F,CRYBA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYBA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32545435,32545435,-,T,P299664_F,C22orf42,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,C22orf42,NM_001010859:c.*91_*92insA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37491670,37491670,A,-,P299664_F,TMPRSS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMPRSS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37532506,37532506,-,CC,P299664_F,IL2RB,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,39930433,39930433,-,A,P299664_F,BCOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100530312,100530312,-,A,P299664_F,TAF7L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF7L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,108924380,108924380,-,A,P299664_F,ACSL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117580995,117580995,-,T,P299664_F,WDR44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129203198,129203198,-,A,P299664_F,ELF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,131231431,131231432,AC,-,P299664_F,FRMD7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FRMD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10490760,10490768,TGGCTTAAC,-,P299664_S,CENPS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CENPS;CENPS-CORT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11150817,11150817,T,-,P299664_S,EXOSC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45973435,45973435,-,T,P299664_S,MMACHC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMACHC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155691192,155691193,TA,-,P299664_S,DAP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173626610,173626610,A,-,P299664_S,ANKRD45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173797452,173797452,C,-,P299664_S,DARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202736223,202736223,T,-,P299664_S,KDM5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235938388,235938388,-,A,P299664_S,LYST,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LYST,NM_000081:exon18:c.5461-2->T;NM_001301365:exon18:c.5461-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26646887,26646888,TG,-,P299664_S,DRC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39201053,39201054,AT,-,P299664_S,ARHGEF33,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ARHGEF33,NM_001145451:c.*69_*70delAT;NM_001367623:c.*926_*927delAT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42181052,42181053,CA,-,P299664_S,C2orf91,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,C2orf91,dist=106,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61315639,61315640,TA,-,P299664_S,KIAA1841,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KIAA1841,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69688632,69688632,A,-,P299664_S,AAK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AAK1,NM_014911:c.*14369delT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69732571,69732571,-,AT,P299664_S,AAK1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,AAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74177637,74177638,TC,-,P299664_S,DGUOK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DGUOK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111887686,111887686,-,T,P299664_S,BCL2L11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL2L11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114346783,114346783,-,TATAG,P299664_S,WASH2P,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,WASH2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,157352735,157352735,T,-,P299664_S,GPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158406547,158406547,A,-,P299664_S,ACVR1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACVR1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,169727879,169727879,-,A,P299664_S,SPC25,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SPC25,NM_020675:c.*61_*62insT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,228175416,228175416,A,-,P299664_S,LOC654841,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC654841,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,237395458,237395458,-,A,P299664_S,IQCA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12614092,12614092,-,T,P299664_S,MKRN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MKRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,77613988,77613989,TG,-,P299664_S,ROBO2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ROBO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108672335,108672335,-,A,P299664_S,GUCA1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCA1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128973138,128973138,-,A,P299664_S,COPG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,137748823,137748823,A,-,P299664_S,CLDN18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLDN18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139246212,139246212,-,A,P299664_S,LOC100507291,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100507291,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,167762679,167762679,A,-,P299664_S,GOLIM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLIM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,171930,171930,-,T,P299664_S,ZNF718,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF718;ZNF876P,dist=13978;dist=34459,NA,NA,NA,NA,NA,NA,NA,NA
chr4,38104501,38104501,-,A,P299664_S,TBC1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,56739013,56739013,-,T,P299664_S,EXOC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68424356,68424357,GT,-,P299664_S,STAP1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,STAP1,dist=88,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78740203,78740203,-,ACACACACACAC,P299664_S,CNOT6L,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,CNOT6L,NM_001365007:c.-42668_-42667insGTGTGTGTGTGT,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78815273,78815273,T,-,P299664_S,MRPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,94749969,94749969,-,A,P299664_S,ATOH1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ATOH1,NM_005172:c.-109_-108insA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,102270129,102270130,AC,-,P299664_S,FLJ20021,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,FLJ20021,dist=89,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35068815,35068815,T,-,P299664_S,PRLR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43535940,43535940,-,A,P299664_S,PAIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72875092,72875092,T,-,P299664_S,UTP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79410478,79410478,A,-,P299664_S,SERINC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127728682,127728683,TC,-,P299664_S,FBN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132203119,132203119,T,-,P299664_S,UQCRQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UQCRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132239920,132239920,-,A,P299664_S,AFF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149389571,149389571,A,-,P299664_S,HMGXB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGXB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,15651640,15651640,-,T,P299664_S,DTNBP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,DTNBP1,NM_001271667:exon3:UTR5,NA,NA,NA,NA,NA,NA,NA,NA
chr6,53134249,53134249,T,-,P299664_S,ELOVL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELOVL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55929429,55929429,-,A,P299664_S,COL21A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL21A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,108277086,108277086,-,TAAA,P299664_S,SEC63,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SEC63,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135286439,135286439,A,-,P299664_S,HBS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HBS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160106071,160106071,A,-,P299664_S,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4901465,4901465,-,CACGTCCCCCACCACCGCGACCTT,P299664_S,PAPOLB,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,PAPOLB,NM_020144:c.-25_-24insAAGGTCGCGGTGGTGGGGGACGTG,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6825532,6825533,AT,-,P299664_S,RSPH10B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RSPH10B;RSPH10B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,14797100,14797100,-,AT,P299664_S,DGKB,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DGKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63033298,63033298,-,GCT,P299664_S,LOC100287834,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,LOC100287834;MIR4283-1,dist=173879;dist=48170,NA,NA,NA,NA,NA,NA,NA,NA
chr7,81695843,81695843,A,-,P299664_S,CACNA2D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92875595,92875596,AC,-,P299664_S,VPS50,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VPS50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102107565,102107565,-,GT,P299664_S,LRWD1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LRWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102107615,102107615,T,-,P299664_S,LRWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142032162,142032163,GA,-,P299664_S,TRY2P,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,TRY2P;MIR11400,dist=60094;dist=125179,NA,NA,NA,NA,NA,NA,NA,NA
chr8,947911,947911,-,ACAA,P299664_S,DLGAP2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DLGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42262241,42262241,A,-,P299664_S,VDAC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VDAC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,43147988,43147989,GT,-,P299664_S,POTEA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,POTEA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,108315600,108315600,A,-,P299664_S,ANGPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,14824710,14824711,TA,-,P299664_S,FREM1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FREM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,77367163,77367163,T,-,P299664_S,TRPM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95060173,95060173,-,A,P299664_S,NOL8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,128328021,128328021,A,-,P299664_S,MAPKAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPKAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138441218,138441218,C,-,P299664_S,OBP2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBP2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26512639,26512640,TG,-,P299664_S,GAD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,61012777,61012780,AAAG,-,P299664_S,FAM13C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70734599,70734599,A,-,P299664_S,DDX21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97725543,97725544,TG,-,P299664_S,ENTPD1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ENTPD1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4132641,4132641,A,-,P299664_S,RRM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8159967,8159967,A,-,P299664_S,RIC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,48168288,48168289,TG,-,P299664_S,PTPRJ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71945777,71945778,GT,-,P299664_S,INPPL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INPPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,110306748,110306748,-,T,P299664_S,FDX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FDX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6994519,6994519,T,-,P299664_S,DSTNP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DSTNP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10051720,10051720,A,-,P299664_S,CLEC2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51181971,51181971,T,-,P299664_S,ATF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53874893,53874894,AT,-,P299664_S,MAP3K12,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MAP3K12;PCBP2,NM_006301:c.*73_*72delAT;NM_001193511:c.*73_*72delAT;NM_001128914:c.*1667_*1668delAT;NM_001128913:c.*1667_*1668delAT;NM_001128912:c.*1667_*1668delAT;NM_005016:c.*1667_*1668delAT;NM_001098620:c.*1667_*1668delAT;NM_031989:c.*1667_*1668delAT;NM_001128911:c.*1667_*1668delAT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56999550,56999550,T,-,P299664_S,BAZ2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAZ2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58110063,58110063,G,-,P299664_S,OS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62789934,62789935,AT,-,P299664_S,USP15,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,USP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64867992,64867992,T,-,P299664_S,TBK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72666481,72666483,AAG,-,P299664_S,TRHDE-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,TRHDE-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81009908,81009909,AT,-,P299664_S,PTPRQ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81205199,81205200,TA,-,P299664_S,LIN7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LIN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102008088,102008089,GT,-,P299664_S,MYBPC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,129410746,129410746,-,TAG,P299664_S,GLT1D1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GLT1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,23894754,23894754,G,-,P299664_S,SGCG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGCG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,33315184,33315184,C,-,P299664_S,PDS5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDS5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46933447,46933447,-,A,P299664_S,RUBCNL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUBCNL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111091157,111091157,-,CTCCACA,P299664_S,COL4A2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111099338,111099338,-,A,P299664_S,COL4A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20086382,20086382,-,AAAA,P299664_S,POTEM,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,POTEM;OR11H2,dist=66110;dist=94681,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53130318,53130318,A,-,P299664_S,ERO1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERO1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53518650,53518650,-,A,P299664_S,DDHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74443298,74443298,-,T,P299664_S,ENTPD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENTPD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74444090,74444090,-,A,P299664_S,ENTPD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENTPD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75199556,75199556,A,-,P299664_S,FCF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,100728500,100728501,AA,-,P299664_S,YY1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,YY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42492179,42492179,-,A,P299664_S,VPS39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22579725,22579730,TGTGTA,-,P299664_S,OTOAP1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,OTOAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66601058,66601058,T,-,P299664_S,CKLF-CMTM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CKLF-CMTM1;CMTM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67670473,67670474,TA,-,P299664_S,CTCF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTCF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89653544,89653564,CAGTCCGTGGCCCCGCCCCGC,-,P299664_S,CPNE7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CPNE7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5389567,5389567,C,-,P299664_S,DERL2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DERL2;MIS12,dist=127,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18380008,18380008,-,ACC,P299664_S,LGALS9C,5'Flank,NA,NA,NA,NA,INS,SNVindel,upstream,LGALS9C,dist=95,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38152374,38152374,A,-,P299664_S,PSMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40880760,40880760,A,-,P299664_S,EZH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EZH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45101841,45101842,GT,-,P299664_S,RPRML,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,RPRML;ARL17A,dist=45222;dist=7110,NA,NA,NA,NA,NA,NA,NA,NA
chr17,72951596,72951596,-,A,P299664_S,HID1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HID1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79871025,79871025,A,-,P299664_S,SIRT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80145928,80145928,A,-,P299664_S,CCDC57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,265533,265533,A,-,P299664_S,THOC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3772029,3772029,G,-,P299664_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7184652,7184653,GA,-,P299664_S,INSR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INSR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16186814,16186814,C,-,P299664_S,TPM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,20829219,20829220,AC,-,P299664_S,ZNF626,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF626,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36212906,36212906,T,-,P299664_S,KMT2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40478606,40478607,AT,-,P299664_S,PSMC4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PSMC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43919911,43919911,-,A,P299664_S,TEX101,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX101,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46125009,46125009,T,-,P299664_S,EML2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53627647,53627648,GA,-,P299664_S,ZNF415,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF415,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54665053,54665053,-,TT,P299664_S,TMC4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TMC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55527173,55527174,AC,-,P299664_S,GP6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2904143,2904143,A,-,P299664_S,PTPRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29628473,29628473,T,-,P299664_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52188399,52188399,-,A,P299664_S,LOC101927770,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927770,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909694,10909698,GCGAA,-,P299664_S,TPTE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40648066,40648067,AC,-,P299664_S,BRWD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BRWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37532506,37532506,-,CC,P299664_S,IL2RB,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38964481,38964482,TG,-,P299664_S,DMC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50500289,50500289,-,C,P299664_S,MLC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48847698,48847698,-,T,P299664_S,GRIPAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIPAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53654501,53654502,TA,-,P299664_S,HUWE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,114880655,114880656,AC,-,P299664_S,PLS3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153672551,153672553,CCG,-,P299664_S,FAM50A,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,FAM50A,NM_004699:c.-32_-30del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17090902,17090902,-,T,P305087_F,MST1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MST1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21074151,21074151,-,A,P305087_F,HP1BP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HP1BP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38454983,38454983,A,-,P305087_F,SF3A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF3A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41101736,41101736,C,-,P305087_F,RIMS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43054895,43054895,A,-,P305087_F,CCDC30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55129359,55129359,A,-,P305087_F,MROH7-TTC4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MROH7-TTC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115438048,115438048,T,-,P305087_F,SYCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144828401,144828401,-,A,P305087_F,NBPF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF19;NBPF20;NBPF8;NBPF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160109258,160109261,AAAT,-,P305087_F,ATP1A2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,172577865,172577865,T,-,P305087_F,SUCO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUCO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173626610,173626610,A,-,P305087_F,ANKRD45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207195091,207195092,AC,-,P305087_F,C1orf116,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,C1orf116,NM_001083924:c.*212_*211delGT;NM_023938:c.*212_*211delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235311772,235311772,-,A,P305087_F,RBM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27716068,27716068,-,A,P305087_F,FNDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32366960,32366960,T,-,P305087_F,SPAST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97692200,97692200,A,-,P305087_F,FAM178B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM178B;FAHD2B,dist=39883;dist=57120,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201719892,201719892,-,A,P305087_F,CLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202195695,202195696,TT,-,P305087_F,FLACC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FLACC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27494895,27494895,-,A,P305087_F,SLC4A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38207266,38207268,GCG,-,P305087_F,OXSR1,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,OXSR1,NM_005109:c.-102_-100del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47604271,47604271,G,-,P305087_F,CSPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,88178218,88178218,A,-,P305087_F,CGGBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CGGBP1;ZNF654,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,100058629,100058629,-,T,P305087_F,NIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150282062,150282062,T,-,P305087_F,EIF2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,431139,431139,A,-,P305087_F,ABCA11P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ABCA11P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48078653,48078653,-,T,P305087_F,TXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,84223560,84223560,T,-,P305087_F,HPSE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPSE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,151683004,151683004,A,-,P305087_F,LRBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37158035,37158037,AAA,-,P305087_F,CPLANE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CPLANE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94842718,94842718,-,A,P305087_F,TTC37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,114548447,114548447,-,A,P305087_F,PGGT1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGGT1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127728706,127728707,AC,-,P305087_F,FBN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132354898,132354898,A,-,P305087_F,ZCCHC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147493834,147493834,T,-,P305087_F,SPINK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPINK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,564497,564497,-,A,P305087_F,EXOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70589408,70589408,T,-,P305087_F,COL19A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL19A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,72962447,72962447,-,C,P305087_F,RIMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,85454056,85454056,A,-,P305087_F,TBX18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161139247,161139247,-,C,P305087_F,PLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,166401465,166401466,GT,-,P305087_F,LINC00473,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LINC00473;LINC00602,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5983404,5983404,T,-,P305087_F,RSPH10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPH10B;RSPH10B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,11452107,11452107,-,A,P305087_F,THSD7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THSD7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30537623,30537624,AT,-,P305087_F,GGCT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GGCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50157019,50157019,-,A,P305087_F,SPATA48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151932809,151932810,TA,-,P305087_F,KMT2C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30464720,30464720,A,-,P305087_F,GTF2E2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2E2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,32599492,32599492,T,-,P305087_F,NRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42761289,42761289,C,-,P305087_F,HOOK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOOK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,134270469,134270470,CA,-,P305087_F,NDRG1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NDRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,71081187,71081187,T,-,P305087_F,PGM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,73391409,73391409,-,A,P305087_F,TRPM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,89656820,89656820,-,GGAAC,P305087_F,LOC440173,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,LOC440173,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,90535129,90535129,G,-,P305087_F,LOC497256,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC497256,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127982475,127982476,TA,-,P305087_F,RABEPK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RABEPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131799174,131799174,C,-,P305087_F,MIGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138927559,138927559,A,-,P305087_F,NACC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NACC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26792268,26792268,-,A,P305087_F,APBB1IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBB1IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,49632312,49632313,AA,-,P305087_F,MAPK8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAPK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,68381350,68381350,A,-,P305087_F,CTNNA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTNNA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,112657654,112657654,T,-,P305087_F,PDCD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDCD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114154581,114154582,TG,-,P305087_F,ACSL5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ACSL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123996879,123996879,-,T,P305087_F,TACC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TACC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67351528,67351528,-,T,P305087_F,GSTP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73795753,73795753,A,-,P305087_F,C2CD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2CD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89939309,89939312,AGAA,-,P305087_F,CHORDC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CHORDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118308391,118308391,C,-,P305087_F,KMT2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KMT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,4488383,4488386,ACAA,-,P305087_F,FGF23,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FGF23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8248080,8248080,-,GG,P305087_F,NECAP1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NECAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31862107,31862107,-,A,P305087_F,AMN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49580753,49580753,C,-,P305087_F,TUBA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,55687967,55687967,-,G,P305087_F,OR6C6,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR6C6,dist=105,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71523012,71523012,-,T,P305087_F,TSPAN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,75893479,75893479,A,-,P305087_F,GLIPR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GLIPR1;KRR1,NM_006851:c.*721delA;NM_007043:c.*110delT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81009908,81009909,AT,-,P305087_F,PTPRQ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81205199,81205200,TA,-,P305087_F,LIN7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LIN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88530401,88530401,-,A,P305087_F,CEP290,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP290,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96104538,96104538,G,-,P305087_F,NTN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NTN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,99059317,99059317,T,-,P305087_F,APAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110463770,110463770,T,-,P305087_F,ANKRD13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123103116,123103116,A,-,P305087_F,KNTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,79979697,79979699,GAG,-,P305087_F,RBM26,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBM26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,38261458,38261458,T,-,P305087_F,TTC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58737825,58737825,-,A,P305087_F,PSMA3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PSMA3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,37265002,37265002,-,T,P305087_F,MEIS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,65759004,65759004,A,-,P305087_F,DPP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,89868528,89868528,-,GAGGGTGTGT,P305087_F,POLG,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,POLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4405513,4405516,TGGA,-,P305087_F,CORO7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CORO7;CORO7-PAM16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14700253,14700253,-,A,P305087_F,PARN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,16108244,16108244,A,-,P305087_F,ABCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70045881,70045881,-,A,P305087_F,PDXDC2P-NPIPB14P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PDXDC2P-NPIPB14P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,73517246,73517246,-,ACAA,P305087_F,LINC01568,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,LINC01568;LOC101928035,dist=61951;dist=709045,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19850686,19850686,T,-,P305087_F,AKAP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,20768839,20768839,-,A,P305087_F,CCDC144NL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC144NL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843745,29843745,-,A,P305087_F,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30293150,30293150,T,-,P305087_F,SUZ12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUZ12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35736447,35736447,T,-,P305087_F,ACACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACA;C17orf78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58289522,58289522,T,-,P305087_F,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58332410,58332410,T,-,P305087_F,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62021748,62021748,-,CA,P305087_F,SCN4A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SCN4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74297630,74297630,-,A,P305087_F,QRICH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QRICH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,9103047,9103048,AT,-,P305087_F,NDUFV2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NDUFV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12337643,12337645,CAG,-,P305087_F,AFG3L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AFG3L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29775227,29775228,AC,-,P305087_F,MEP1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MEP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,66381140,66381140,-,A,P305087_F,TMX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3028804,3028804,G,-,P305087_F,TLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5768062,5768062,-,C,P305087_F,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6759358,6759359,AA,-,P305087_F,SH2D3A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SH2D3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10449990,10449991,GT,-,P305087_F,ICAM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ICAM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11565819,11565819,-,T,P305087_F,ELAVL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAVL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48243964,48243964,T,-,P305087_F,EHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1458549,1458549,-,C,P305087_F,SIRPB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRPB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57466762,57466764,CCG,-,P305087_F,GNAS,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,GNAS,NM_001077489:c.-20_-18del-;NM_001077488:c.-20_-18del-;NM_001309842:c.-20_-18del-;NM_000516:c.-20_-18del-;NM_080426:c.-20_-18del-,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60640879,60640881,GCC,-,P305087_F,TAF4,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,TAF4;MIR3195,dist=13;dist=13,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30438953,30438953,T,-,P305087_F,CCT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34799084,34799084,-,TA,P305087_F,IFNGR2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,IFNGR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31836989,31836989,C,-,P305087_F,EIF4ENIF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4ENIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,35944077,35944077,-,T,P305087_F,CFAP47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48758341,48758342,CA,-,P305087_F,PQBP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PQBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,71813251,71813255,GCGCA,-,P305087_F,PHKA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHKA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100601734,100601734,-,A,P305087_F,TIMM8A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TIMM8A,NM_001145951:c.*1640_*1641insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107683502,107683502,G,-,P305087_F,COL4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,114361304,114361304,A,-,P305087_F,LRCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9633388,9633388,T,-,P305087_F1,SLC25A33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16458076,16458076,-,A,P305087_F1,EPHA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20668865,20668867,CTC,-,P305087_F1,VWA5B1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VWA5B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27120400,27120400,T,-,P305087_F1,PIGV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43054895,43054895,A,-,P305087_F1,CCDC30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55129359,55129359,A,-,P305087_F1,MROH7-TTC4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MROH7-TTC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78034157,78034158,AA,-,P305087_F1,ZZZ3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZZZ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,117911178,117911178,-,T,P305087_F1,MAN1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160109258,160109261,AAAT,-,P305087_F1,ATP1A2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160232930,160232930,T,-,P305087_F1,DCAF8,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DCAF8;LOC100287049,dist=591;dist=362,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179604780,179604780,-,T,P305087_F1,TDRD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207195091,207195092,AC,-,P305087_F1,C1orf116,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,C1orf116,NM_001083924:c.*212_*211delGT;NM_023938:c.*212_*211delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95488913,95488919,TTTGTAT,-,P305087_F1,ANKRD20A8P,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ANKRD20A8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97692200,97692200,A,-,P305087_F1,FAM178B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM178B;FAHD2B,dist=39883;dist=57120,NA,NA,NA,NA,NA,NA,NA,NA
chr2,107118751,107118756,AAAAAA,-,P305087_F1,CD8B2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CD8B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120857801,120857801,T,-,P305087_F1,EPB41L5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203807442,203807442,T,-,P305087_F1,CARF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207604137,207604137,A,-,P305087_F1,MDH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,223065754,223065755,AC,-,P305087_F1,PAX3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,PAX3,NM_181458:c.*373_*372delGT;NM_181460:c.*186_*185delGT;NM_181461:c.*369_*368delGT;NM_181459:c.*139_*138delGT;NM_001127366:c.*373_*372delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238899045,238899045,-,T,P305087_F1,UBE2F-SCLY,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,UBE2F-SCLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,24004949,24004949,-,T,P305087_F1,NR1D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR1D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,32859515,32859517,CTC,-,P305087_F1,TRIM71,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TRIM71,NM_001039111:c.-58_-56del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49048535,49048535,T,-,P305087_F1,WDR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51469721,51469721,-,A,P305087_F1,DCAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,100463651,100463652,TT,-,P305087_F1,TFG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TFG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108773809,108773809,-,T,P305087_F1,MORC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,140685360,140685360,-,T,P305087_F1,SLC25A36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,152204460,152204460,T,-,P305087_F1,PRSS48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,50045967,50045967,G,-,P305087_F1,PARP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72185591,72185591,-,T,P305087_F1,TNPO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNPO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112884828,112884828,-,T,P305087_F1,YTHDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YTHDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127728682,127728683,TC,-,P305087_F1,FBN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147493834,147493834,T,-,P305087_F1,SPINK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPINK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,11538456,11538458,GCC,-,P305087_F1,TMEM170B,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TMEM170B,NM_001100829:c.-55_-53del-,NA,NA,NA,NA,NA,NA,NA,NA
chr6,127440211,127440213,GAG,-,P305087_F1,RSPO3,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,RSPO3,NM_032784:c.-127_-125del-,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144782562,144782562,A,-,P305087_F1,UTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,148761411,148761411,T,-,P305087_F1,SASH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SASH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,149862316,149862316,-,T,P305087_F1,PPIL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,163836176,163836178,CGG,-,P305087_F1,QKI,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,QKI,NM_001301085:c.-50_-48del-;NM_006775:c.-50_-48del-;NM_206855:c.-50_-48del-;NM_206854:c.-50_-48del-;NM_206853:c.-50_-48del-,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2612351,2612351,-,T,P305087_F1,IQCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,8267926,8267926,-,A,P305087_F1,ICA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ICA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30537623,30537624,AT,-,P305087_F1,GGCT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GGCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56891377,56891377,G,-,P305087_F1,LOC401357,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC401357;LOC100130849,dist=10948;dist=51701,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142990208,142990208,T,-,P305087_F1,CASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150919382,150919382,-,A,P305087_F1,ABCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCF2;LOC114483834,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42026641,42026641,A,-,P305087_F1,AP3M2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AP3M2,NM_001134296:c.*62delA;NM_006803:c.*62delA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48799931,48799931,T,-,P305087_F1,PRKDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,52361493,52361493,-,T,P305087_F1,PXDNL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXDNL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,71081187,71081187,T,-,P305087_F1,PGM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79820202,79820202,-,T,P305087_F1,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,90535129,90535129,G,-,P305087_F1,LOC497256,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC497256,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99233176,99233176,-,AA,P305087_F1,HABP4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,HABP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131799174,131799174,C,-,P305087_F1,MIGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14882041,14882042,AT,-,P305087_F1,HSPA14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HSPA14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26792268,26792268,-,A,P305087_F1,APBB1IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBB1IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,49632312,49632313,AA,-,P305087_F1,MAPK8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAPK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,52610353,52610354,TG,-,P305087_F1,A1CF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,A1CF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95211927,95211927,-,A,P305087_F1,MYOF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96112262,96112268,AAAAAAC,-,P305087_F1,NOC3L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NOC3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73795753,73795753,A,-,P305087_F1,C2CD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2CD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89939309,89939312,AGAA,-,P305087_F1,CHORDC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CHORDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117772788,117772789,CA,-,P305087_F1,TMPRSS13,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,TMPRSS13,NM_001206789:c.*166_*165delTG;NM_001077263:c.*166_*165delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117975800,117975801,AC,-,P305087_F1,TMPRSS4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMPRSS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,4654299,4654299,A,-,P305087_F1,RAD51AP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD51AP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46758407,46758407,A,-,P305087_F1,SLC38A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49580753,49580753,C,-,P305087_F1,TUBA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51181971,51181971,T,-,P305087_F1,ATF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53858826,53858826,-,T,P305087_F1,PCBP2-OT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PCBP2-OT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56096601,56096602,AC,-,P305087_F1,ITGA7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITGA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94620800,94620800,A,-,P305087_F1,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102046304,102046305,CT,-,P305087_F1,MYBPC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,106903452,106903452,-,A,P305087_F1,LOC100287944,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100287944,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113617918,113617918,A,-,P305087_F1,DDX54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122437595,122437595,T,-,P305087_F1,WDR66,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR66,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,31035467,31035467,-,A,P305087_F1,HMGB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HMGB1,NM_002128:c.*26_*27insT;NM_001370341:c.*26_*27insT;NM_001370340:c.*26_*27insT;NM_001370339:c.*352_*353insT;NM_001363661:c.*247_*248insT;NM_001313893:c.*26_*27insT;NM_001313892:c.*26_*27insT,NA,NA,NA,NA,NA,NA,NA,NA
chr13,79979697,79979699,GAG,-,P305087_F1,RBM26,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBM26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,56104386,56104386,-,A,P305087_F1,KTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,81284213,81284213,A,-,P305087_F1,CEP128,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78562815,78562816,TC,-,P305087_F1,DNAJA4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNAJA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,425533,425533,-,T,P305087_F1,TMEM8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3823680,3823680,-,A,P305087_F1,CREBBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CREBBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71417109,71417109,C,-,P305087_F1,CALB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,72107693,72107694,GT,-,P305087_F1,HPR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,86544094,86544096,TCC,-,P305087_F1,FOXF1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,FOXF1,dist=37,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57311747,57311747,-,A,P305087_F1,GDPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GDPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57886365,57886365,T,-,P305087_F1,VMP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VMP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,9103047,9103048,AT,-,P305087_F1,NDUFV2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NDUFV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,876915,876915,C,-,P305087_F1,MED16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7623628,7623628,T,-,P305087_F1,PNPLA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9415943,9415944,AC,-,P305087_F1,ZNF699,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF699,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11565819,11565819,-,T,P305087_F1,ELAVL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAVL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42825380,42825380,T,-,P305087_F1,TMEM145,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM145,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53455153,53455153,A,-,P305087_F1,ZNF816,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF816;ZNF816-ZNF321P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,252085,252086,AC,-,P305087_F1,C20orf96,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C20orf96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3324488,3324489,GT,-,P305087_F1,C20orf194,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C20orf194,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35696592,35696592,A,-,P305087_F1,RBL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,55206242,55206242,T,-,P305087_F1,TFAP2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFAP2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34902152,34902156,TGAGT,-,P305087_F1,GART,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GART,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,16914284,16914284,C,-,P305087_F1,OR11H1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR11H1;CCT8L2,dist=464480;dist=157357,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18068158,18068158,-,A,P305087_F1,LOC101929372,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LOC101929372;SLC25A18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31687456,31687456,C,-,P305087_F1,PIK3IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,37653151,37653151,A,-,P305087_F1,CYBB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYBB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,37700043,37700044,AT,-,P305087_F1,DYNLT3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DYNLT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,46466653,46466655,CAA,-,P305087_F1,SLC9A7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC9A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100601734,100601734,-,A,P305087_F1,TIMM8A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TIMM8A,NM_001145951:c.*1640_*1641insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,114361304,114361304,A,-,P305087_F1,LRCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1643940,1643940,-,T,P305087_S,CDK11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11A;CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,33139041,33139041,-,TT,P305087_S,RBBP4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RBBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38454983,38454983,A,-,P305087_S,SF3A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF3A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39802339,39802339,T,-,P305087_S,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51032699,51032699,T,-,P305087_S,FAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52403175,52403175,T,-,P305087_S,RAB3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78034157,78034158,AA,-,P305087_S,ZZZ3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZZZ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,85121299,85121299,-,T,P305087_S,SSX2IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSX2IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155691192,155691193,TA,-,P305087_S,DAP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160109258,160109261,AAAT,-,P305087_S,ATP1A2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160232930,160232930,T,-,P305087_S,DCAF8,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DCAF8;LOC100287049,dist=591;dist=362,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168161498,168161498,-,TG,P305087_S,TIPRL,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,TIPRL,NM_001031800:c.*32_*33insTG,NA,NA,NA,NA,NA,NA,NA,NA
chr1,184688238,184688239,GT,-,P305087_S,EDEM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EDEM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196759163,196759163,-,T,P305087_S,CFHR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFHR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,197150257,197150257,A,-,P305087_S,ZBTB41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,210502520,210502520,-,A,P305087_S,HHAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223932724,223932724,-,TGA,P305087_S,CAPN2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CAPN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235323463,235323463,-,GA,P305087_S,RBM34,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RBM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236399461,236399462,AG,-,P305087_S,ERO1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ERO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1890246,1890246,-,T,P305087_S,MYT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,48066233,48066233,T,-,P305087_S,FBXO11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97692200,97692200,A,-,P305087_S,FAM178B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM178B;FAHD2B,dist=39883;dist=57120,NA,NA,NA,NA,NA,NA,NA,NA
chr2,100197215,100197216,CT,-,P305087_S,AFF3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AFF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,172305175,172305175,-,T,P305087_S,DCAF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,176989020,176989020,-,T,P305087_S,HOXD9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HOXD9,NM_014213:c.*117_*118insT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203141064,203141064,A,-,P305087_S,NOP58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOP58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,217340371,217340371,-,ACT,P305087_S,SMARCAL1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SMARCAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219414447,219414447,-,A,P305087_S,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9691543,9691544,GA,-,P305087_S,MTMR14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MTMR14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47448120,47448129,CAGGGCGGGG,-,P305087_S,PTPN23,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPN23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57322933,57322934,AG,-,P305087_S,ASB14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ASB14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58407214,58407214,-,G,P305087_S,PXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108070993,108070993,T,-,P305087_S,HHLA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHLA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,136710642,136710643,GT,-,P305087_S,IL20RB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IL20RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,136710686,136710687,AG,-,P305087_S,IL20RB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IL20RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,38104502,38104502,A,-,P305087_S,TBC1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39928486,39928486,-,A,P305087_S,PDS5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDS5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,70267902,70267902,A,-,P305087_S,UGT2B28,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,UGT2B28;UGT2B4,dist=107134;dist=77981,NA,NA,NA,NA,NA,NA,NA,NA
chr4,70359569,70359569,-,A,P305087_S,UGT2B4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGT2B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77045927,77045927,G,-,P305087_S,NUP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,170051396,170051396,A,-,P305087_S,SH3RF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3RF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32600915,32600915,G,-,P305087_S,SUB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43294014,43294014,G,-,P305087_S,HMGCS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGCS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68498811,68498811,T,-,P305087_S,CENPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,96084365,96084365,A,-,P305087_S,CAST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147493834,147493834,T,-,P305087_S,SPINK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPINK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10926515,10926515,T,-,P305087_S,SYCP2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17463528,17463528,A,-,P305087_S,CAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33408466,33408467,TC,-,P305087_S,SYNGAP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYNGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55739712,55739712,A,-,P305087_S,BMP5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,BMP5,NM_001329756:c.-49delT;NM_001329754:c.-49delT;NM_021073:c.-49delT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,72962447,72962447,-,C,P305087_S,RIMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,83855206,83855209,ATAC,-,P305087_S,DOP1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DOP1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,96972043,96972043,-,A,P305087_S,UFL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UFL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123786155,123786155,A,-,P305087_S,TRDN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRDN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161139247,161139247,-,C,P305087_S,PLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5983261,5983261,-,C,P305087_S,RSPH10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPH10B;RSPH10B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5983404,5983404,T,-,P305087_S,RSPH10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPH10B;RSPH10B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,16722393,16722393,T,-,P305087_S,BZW2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BZW2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30537623,30537624,AT,-,P305087_S,GGCT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GGCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47463791,47463792,GA,-,P305087_S,TNS3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56052490,56052490,T,-,P305087_S,NIPSNAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPSNAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73649746,73649747,AG,-,P305087_S,RFC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RFC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94257450,94257451,AC,-,P305087_S,SGCE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SGCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123267048,123267048,-,CAA,P305087_S,ASB15,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ASB15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27690542,27690542,A,-,P305087_S,PBK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PBK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,52366469,52366470,AT,-,P305087_S,PXDNL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PXDNL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,53597788,53597789,TT,-,P305087_S,RB1CC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RB1CC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68073974,68073975,GT,-,P305087_S,CSPP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68140384,68140384,T,-,P305087_S,ARFGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,101105742,101105742,A,-,P305087_S,RGS22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,71081187,71081187,T,-,P305087_S,PGM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,73391409,73391409,-,A,P305087_S,TRPM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,90535129,90535129,G,-,P305087_S,LOC497256,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC497256,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,102822307,102822307,-,T,P305087_S,ERP44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERP44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131799174,131799174,C,-,P305087_S,MIGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26792268,26792268,-,A,P305087_S,APBB1IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBB1IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,49632312,49632313,AA,-,P305087_S,MAPK8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAPK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,51537112,51537112,-,A,P305087_S,TIMM23B-AGAP6,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TIMM23B-AGAP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,52610353,52610354,TG,-,P305087_S,A1CF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,A1CF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,63196083,63196083,-,A,P305087_S,TMEM26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70266207,70266207,A,-,P305087_S,SLC25A16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96112262,96112268,AAAAAAC,-,P305087_S,NOC3L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NOC3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102739180,102739180,-,C,P305087_S,MRPL43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL43;SEMA4G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103905081,103905081,G,-,P305087_S,PPRC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,112657654,112657654,T,-,P305087_S,PDCD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDCD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9001270,9001271,AC,-,P305087_S,NRIP3,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,NRIP3,dist=852,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9001311,9001311,-,TACT,P305087_S,NRIP3,3'Flank,NA,NA,NA,NA,INS,SNVindel,downstream,NRIP3,dist=812,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59427011,59427011,T,-,P305087_S,PATL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62533261,62533261,-,T,P305087_S,POLR2G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73795753,73795753,A,-,P305087_S,C2CD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2CD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73806200,73806200,A,-,P305087_S,C2CD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2CD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,84997012,84997012,A,-,P305087_S,DLG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89939309,89939312,AGAA,-,P305087_S,CHORDC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CHORDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,120307936,120307936,-,T,P305087_S,ARHGEF12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,123431382,123431382,-,ATA,P305087_S,GRAMD1B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GRAMD1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3046617,3046618,AG,-,P305087_S,TULP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TULP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46758407,46758407,A,-,P305087_S,SLC38A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC38A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49580753,49580753,C,-,P305087_S,TUBA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62889226,62889226,-,A,P305087_S,MON2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MON2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69186620,69186620,A,-,P305087_S,SLC35E3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC35E3;LOC100130075,dist=11372;dist=11597,NA,NA,NA,NA,NA,NA,NA,NA
chr12,75893479,75893479,A,-,P305087_S,GLIPR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GLIPR1;KRR1,NM_006851:c.*721delA;NM_007043:c.*110delT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81009908,81009909,AT,-,P305087_S,PTPRQ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94620767,94620767,C,-,P305087_S,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123703075,123703075,T,-,P305087_S,MPHOSPH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,23249239,23249239,-,C,P305087_S,LINC00540,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00540;LINC00621,dist=398580;dist=201292,NA,NA,NA,NA,NA,NA,NA,NA
chr13,79979697,79979699,GAG,-,P305087_S,RBM26,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBM26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20837189,20837189,A,-,P305087_S,TEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36339548,36339548,T,-,P305087_S,BRMS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRMS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93043862,93043864,GCA,-,P305087_S,RIN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103987483,103987485,CCT,-,P305087_S,CKB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25970975,25970975,-,G,P305087_S,ATP10A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,39881651,39881651,A,-,P305087_S,THBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,55841195,55841195,-,A,P305087_S,PYGO1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PYGO1,NM_001330326:exon2:c.50-2->T;NM_015617:exon2:c.50-2->T;NM_001367806:exon2:c.50-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,56946704,56946704,A,-,P305087_S,ZNF280D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF280D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102506815,102506816,CC,-,P305087_S,WASH3P,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,WASH3P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2019067,2019067,T,-,P305087_S,RNF151,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,RNF151,dist=117,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20956099,20956100,AC,-,P305087_S,DNAH3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNAH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68961234,68961235,TG,-,P305087_S,TANGO6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TANGO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,86544094,86544096,TCC,-,P305087_S,FOXF1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,FOXF1,dist=37,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89785365,89785365,G,-,P305087_S,VPS9D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS9D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89871351,89871351,-,G,P305087_S,FANCA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8218061,8218061,A,-,P305087_S,ARHGEF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8812647,8812647,-,C,P305087_S,PIK3R5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3R5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17075183,17075183,G,-,P305087_S,MPRIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPRIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19850686,19850686,T,-,P305087_S,AKAP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35736447,35736447,T,-,P305087_S,ACACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACA;C17orf78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35979747,35979747,A,-,P305087_S,DDX52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37070968,37070973,TGCACG,-,P305087_S,LASP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LASP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40104384,40104384,-,A,P305087_S,TTC25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43310211,43310212,TG,-,P305087_S,FMNL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FMNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12337643,12337645,CAG,-,P305087_S,AFG3L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AFG3L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29625518,29625518,T,-,P305087_S,RNF125,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF125,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1044498,1044498,-,G,P305087_S,ABCA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7623621,7623621,-,TCTC,P305087_S,PNPLA6,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PNPLA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8503614,8503614,T,-,P305087_S,MARCHF2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MARCHF2,NM_001005415:c.*184delT;NM_001369778:c.*184delT;NM_001369777:c.*184delT;NM_001369776:c.*184delT;NM_016496:c.*184delT;NM_001005416:c.*184delT;NM_001369779:c.*184delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8646015,8646015,T,-,P305087_S,ADAMTS10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,16909896,16909897,AC,-,P305087_S,OR11H1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,OR11H1;CCT8L2,dist=460092;dist=161744,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29125306,29125306,-,G,P305087_S,CHEK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHEK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32548037,32548037,A,-,P305087_S,C22orf42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C22orf42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32790121,32790121,G,-,P305087_S,RTCB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTCB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38071732,38071732,C,-,P305087_S,LGALS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39417346,39417346,-,AG,P305087_S,APOBEC3D,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,APOBEC3D,NM_001363781:c.-179_-178insAG;NM_152426:c.-179_-178insAG,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48957349,48957350,TT,-,P305087_S,WDR45,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,WDR45,NM_007075:c.-21595_-21596delAA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,99849116,99849155,ATTTGAATTCAAATGGAAAGCTAGCCTCCTCTAGCTTTCC,-,P305087_S,TNMD,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNMD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100601734,100601734,-,A,P305087_S,TIMM8A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TIMM8A,NM_001145951:c.*1640_*1641insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,114361304,114361304,A,-,P305087_S,LRCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,119428071,119428071,-,CT,P305087_S,TMEM255A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TMEM255A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1323938,1323938,-,GT,P305087_S1,CCNL2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CCNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92846490,92846490,T,-,P305087_S1,RPAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94544806,94544807,CA,-,P305087_S1,ABCA4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABCA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109883200,109883200,A,-,P305087_S1,SORT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110551590,110551590,-,A,P305087_S1,AHCYL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHCYL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118483375,118483377,AAC,-,P305087_S1,WDR3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WDR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150230423,150230424,CT,-,P305087_S1,CA14,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CA14,NM_012113:c.-101_-100del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150445908,150445908,T,-,P305087_S1,RPRD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPRD2,NM_001297673:c.*1461delT;NM_001297674:c.*98delT;NM_015203:c.*98delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155691192,155691193,TA,-,P305087_S1,DAP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160109258,160109261,AAAT,-,P305087_S1,ATP1A2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160232930,160232930,T,-,P305087_S1,DCAF8,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DCAF8;LOC100287049,dist=591;dist=362,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182825552,182825552,T,-,P305087_S1,DHX9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200816520,200816521,TG,-,P305087_S1,CAMSAP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAMSAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,234456062,234456063,AC,-,P305087_S1,SLC35F3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC35F3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20130971,20130971,T,-,P305087_S1,WDR35,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37315480,37315480,A,-,P305087_S1,GPATCH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPATCH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97692200,97692200,A,-,P305087_S1,FAM178B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM178B;FAHD2B,dist=39883;dist=57120,NA,NA,NA,NA,NA,NA,NA,NA
chr2,125367165,125367166,AG,-,P305087_S1,CNTNAP5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CNTNAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242343091,242343091,T,-,P305087_S1,FARP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47604271,47604271,G,-,P305087_S1,CSPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49155555,49155555,-,A,P305087_S1,USP19,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,USP19,NM_001351101:exon3:c.125-2->T;NM_001351099:exon3:c.125-2->T;NM_001351108:exon3:c.125-2->T;NM_001351098:exon3:c.125-2->T;NM_001351104:exon3:c.125-2->T;NM_001351103:exon3:c.125-2->T;NM_001351107:exon3:c.125-2->T;NM_001351106:exon3:c.125-2->T;NM_001351102:exon3:c.125-2->T;NM_001199161:exon3:c.125-2->T;NM_001199162:exon3:c.125-2->T;NM_001199160:exon3:c.125-2->T;NM_001351100:exon3:c.125-2->T;NM_001351105:exon3:c.125-2->T;NM_006677:exon3:c.125-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr3,154007619,154007619,A,-,P305087_S1,DHX36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195102591,195102591,T,-,P305087_S1,ACAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,946250,946250,G,-,P305087_S1,TMEM175,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM175,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,31018406,31018407,TG,-,P305087_S1,PCDH7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PCDH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,38104502,38104502,A,-,P305087_S1,TBC1D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76528897,76528897,A,-,P305087_S1,CDKL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76926197,76926197,-,T,P305087_S1,LOC101928809,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928809,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78793016,78793016,-,T,P305087_S1,MRPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147493834,147493834,T,-,P305087_S1,SPINK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPINK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24839856,24839856,-,A,P305087_S1,RIPOR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RIPOR2,NM_001286447:c.*1075_*1076insT;NM_001286446:c.*1075_*1076insT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33408466,33408467,TC,-,P305087_S1,SYNGAP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYNGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,44136999,44136999,-,T,P305087_S1,CAPN11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,72962447,72962447,-,C,P305087_S1,RIMS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,74183001,74183004,AGAT,-,P305087_S1,MTO1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MTO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,90077648,90077648,T,-,P305087_S1,RRAGD,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RRAGD,NM_021244:c.*127delA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,166401465,166401466,GT,-,P305087_S1,LINC00473,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LINC00473;LINC00602,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5983261,5983261,-,C,P305087_S1,RSPH10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPH10B;RSPH10B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30085161,30085162,AC,-,P305087_S1,PLEKHA8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLEKHA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44798685,44798685,-,AAAAG,P305087_S1,ZMIZ2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ZMIZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98639905,98639905,T,-,P305087_S1,SMURF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMURF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,3224464,3224465,AC,-,P305087_S1,CSMD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,99148629,99148629,-,A,P305087_S1,POP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145735724,145735724,-,C,P305087_S1,MFSD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,73391409,73391409,-,A,P305087_S1,TRPM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,77367163,77367163,T,-,P305087_S1,TRPM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125438391,125438392,GT,-,P305087_S1,OR1L3,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,OR1L3,dist=8,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131799174,131799174,C,-,P305087_S1,MIGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13333922,13333922,-,A,P305087_S1,PHYH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHYH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26792268,26792268,-,A,P305087_S1,APBB1IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBB1IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,35805590,35805590,T,-,P305087_S1,CCNY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,49632312,49632313,AA,-,P305087_S1,MAPK8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAPK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70055968,70055968,A,-,P305087_S1,PBLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PBLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70946081,70946081,-,A,P305087_S1,SUPV3L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPV3L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75335437,75335437,A,-,P305087_S1,USP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118396277,118396277,-,T,P305087_S1,PNLIPRP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNLIPRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126100484,126100484,-,T,P305087_S1,OAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,752245,752245,-,T,P305087_S1,TALDO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TALDO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8486374,8486374,-,T,P305087_S1,STK33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71627002,71627003,TG,-,P305087_S1,LOC100133315,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC100133315,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73795753,73795753,A,-,P305087_S1,C2CD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2CD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74053485,74053485,-,A,P305087_S1,PGM2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77830466,77830474,TTTTTTTAA,-,P305087_S1,ALG8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ALG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89939309,89939312,AGAA,-,P305087_S1,CHORDC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CHORDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117772788,117772789,CA,-,P305087_S1,TMPRSS13,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,TMPRSS13,NM_001206789:c.*166_*165delTG;NM_001077263:c.*166_*165delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr12,4762872,4762872,T,-,P305087_S1,NDUFA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8693216,8693217,TC,-,P305087_S1,CLEC4E,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLEC4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21794869,21794869,-,T,P305087_S1,LDHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49580753,49580753,C,-,P305087_S1,TUBA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54676166,54676166,T,-,P305087_S1,HNRNPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104515110,104515110,A,-,P305087_S1,NFYB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,38171301,38171301,-,A,P305087_S1,POSTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POSTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46704737,46704737,G,-,P305087_S1,LCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,76409206,76409206,-,A,P305087_S1,LMO7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMO7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,79979697,79979699,GAG,-,P305087_S1,RBM26,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBM26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,96743070,96743072,GCC,-,P305087_S1,HS6ST3,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,HS6ST3,dist=21,NA,NA,NA,NA,NA,NA,NA,NA
chr13,101179355,101179355,-,T,P305087_S1,PCCA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCCA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58737826,58737826,A,-,P305087_S1,PSMA3-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PSMA3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34111897,34111897,-,AATAAATG,P305087_S1,RYR3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52656722,52656722,-,A,P305087_S1,MYO5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2342075,2342075,A,-,P305087_S1,ABCA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67409042,67409042,A,-,P305087_S1,LRRC36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17909194,17909195,TG,-,P305087_S1,DRC3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DRC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78120846,78120846,-,TG,P305087_S1,EIF4A3,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,EIF4A3,NM_014740:c.-87_-86insCA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,76903695,76903695,-,T,P305087_S1,ATP9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,876915,876915,C,-,P305087_S1,MED16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10449990,10449991,GT,-,P305087_S1,ICAM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ICAM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10690721,10690722,TT,-,P305087_S1,AP1M2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AP1M2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16625242,16625242,-,G,P305087_S1,C19orf44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35758789,35758789,-,T,P305087_S1,LSR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LSR,NM_015925:c.*27_*28insT;NM_001260490:c.*27_*28insT;NM_001260489:c.*27_*28insT;NM_205835:c.*27_*28insT;NM_205834:c.*27_*28insT,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30354258,30354259,GT,-,P305087_S1,TPX2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35263189,35263190,AG,-,P305087_S1,SLA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34799085,34799086,TA,-,P305087_S1,IFNGR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IFNGR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32548036,32548036,-,A,P305087_S1,C22orf42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C22orf42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38071732,38071732,C,-,P305087_S1,LGALS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24191873,24191873,T,-,P305087_S1,ZFX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100601734,100601734,-,A,P305087_S1,TIMM8A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TIMM8A,NM_001145951:c.*1640_*1641insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,114361304,114361304,A,-,P305087_S1,LRCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16909003,16909003,G,-,P305087_T,NBPF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24426369,24426369,T,-,P305087_T,MYOM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35562887,35562887,-,T,P305087_T,ZMYM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36556793,36556793,A,-,P305087_T,ADPRHL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADPRHL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36643126,36643128,AAC,-,P305087_T,MAP7D1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAP7D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40769130,40769130,T,-,P305087_T,COL9A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52927296,52927296,A,-,P305087_T,TUT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78432659,78432659,T,-,P305087_T,FUBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89298290,89298290,-,TTG,P305087_T,PKN2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PKN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155691191,155691191,-,TA,P305087_T,DAP3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156109034,156109034,T,-,P305087_T,LMNA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LMNA,NM_170708:c.*137delT;NM_001282626:c.*137delT;NM_170707:c.*137delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158606293,158606293,T,-,P305087_T,SPTA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160109258,160109261,AAAT,-,P305087_T,ATP1A2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,197150257,197150257,A,-,P305087_T,ZBTB41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,222838539,222838539,-,A,P305087_T,MIA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235311772,235311772,-,A,P305087_T,RBM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7421570,7421571,TG,-,P305087_T,LOC101929452,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC101929452;LOC100506274,dist=203559;dist=139821,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20518223,20518223,-,A,P305087_T,PUM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32724567,32724568,TC,-,P305087_T,BIRC6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61315638,61315638,-,TA,P305087_T,KIAA1841,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,KIAA1841,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96690479,96690479,C,-,P305087_T,GPAT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPAT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97692200,97692200,A,-,P305087_T,FAM178B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM178B;FAHD2B,dist=39883;dist=57120,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102959417,102959417,T,-,P305087_T,IL1RL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,130948320,130948320,-,G,P305087_T,MZT2B,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MZT2B;TUBA3E,dist=998,NA,NA,NA,NA,NA,NA,NA,NA
chr2,160843568,160843568,-,A,P305087_T,PLA2R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,166234076,166234076,A,-,P305087_T,SCN2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,170127381,170127382,AC,-,P305087_T,LRP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LRP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,190603201,190603201,-,A,P305087_T,ANKAR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKAR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,200798090,200798090,-,A,P305087_T,TYW5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TYW5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,204193211,204193213,GAG,-,P305087_T,ABI2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,ABI2,NM_001282932:c.-47528_-47526del-;NM_001282926:c.-27_-25del-;NM_005759:c.-27_-25del-;NM_001282925:c.-27_-25del-,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238899045,238899045,-,T,P305087_T,UBE2F-SCLY,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,UBE2F-SCLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27475339,27475339,-,CG,P305087_T,SLC4A7,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SLC4A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42754624,42754625,CT,-,P305087_T,CCDC13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCDC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47604271,47604271,G,-,P305087_T,CSPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51469721,51469721,-,A,P305087_T,DCAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58154394,58154397,CAAC,-,P305087_T,FLNB-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FLNB-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65344568,65344568,T,-,P305087_T,MAGI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108773809,108773809,-,T,P305087_T,MORC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113207968,113207968,-,T,P305087_T,SPICE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPICE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,157820719,157820720,AC,-,P305087_T,SHOX2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SHOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160248732,160248732,-,A,P305087_T,KPNA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170244825,170244832,TTTTAGGA,-,P305087_T,SLC7A14-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,SLC7A14-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,17814927,17814927,A,-,P305087_T,NCAPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,30341487,30341488,GT,-,P305087_T,LINC02472,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC02472;PCDH7,dist=1118704;dist=380503,NA,NA,NA,NA,NA,NA,NA,NA
chr4,128724723,128724723,-,T,P305087_T,HSPA4L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSPA4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,50685375,50685378,GCGG,-,P305087_T,ISL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ISL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72185591,72185591,-,T,P305087_T,TNPO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNPO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,76934175,76934175,T,-,P305087_T,OTP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,121495625,121495625,-,A,P305087_T,LOC100505841,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LOC100505841,dist=246,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147493834,147493834,T,-,P305087_T,SPINK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPINK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,155935513,155935513,A,-,P305087_T,SGCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179667028,179667028,A,-,P305087_T,MAPK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180481217,180481217,T,-,P305087_T,BTNL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTNL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70950282,70950283,AT,-,P305087_T,COL9A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL9A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,96972044,96972044,A,-,P305087_T,UFL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UFL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123702474,123702474,A,-,P305087_T,TRDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136582194,136582194,-,AAA,P305087_T,BCLAF1,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,BCLAF1,NM_001077441:c.*53_*54insTTT;NM_001363659:c.*53_*54insTTT;NM_014739:c.*53_*54insTTT;NM_001301038:c.*53_*54insTTT;NM_001077440:c.*53_*54insTTT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,151140947,151140950,GGGG,-,P305087_T,PLEKHG1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLEKHG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152765727,152765727,A,-,P305087_T,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5983261,5983261,-,C,P305087_T,RSPH10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPH10B;RSPH10B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,30537623,30537624,AT,-,P305087_T,GGCT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GGCT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142032162,142032163,GA,-,P305087_T,TRY2P,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,TRY2P;MIR11400,dist=60094;dist=125179,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30464720,30464720,A,-,P305087_T,GTF2E2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF2E2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42323208,42323208,A,-,P305087_T,SLC20A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC20A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,61655721,61655721,T,-,P305087_T,CHD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131199667,131199667,T,-,P305087_T,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144459311,144459312,TG,-,P305087_T,RHPN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RHPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,88889345,88889345,A,-,P305087_T,ISCA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ISCA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,90535129,90535129,G,-,P305087_T,LOC497256,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC497256,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,97209342,97209344,TGT,-,P305087_T,MFSD14B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MFSD14B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99233176,99233176,-,A,P305087_T,HABP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HABP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116152038,116152043,CCCACC,-,P305087_T,ALAD,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ALAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131799174,131799174,C,-,P305087_T,MIGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14882041,14882042,AT,-,P305087_T,HSPA14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HSPA14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26792268,26792268,-,A,P305087_T,APBB1IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APBB1IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27434218,27434218,-,A,P305087_T,YME1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YME1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,49632312,49632313,AA,-,P305087_T,MAPK8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAPK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,63662433,63662434,TG,-,P305087_T,ARID5B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARID5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96112262,96112268,AAAAAAC,-,P305087_T,NOC3L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NOC3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98325237,98325237,-,A,P305087_T,TM9SF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM9SF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104134960,104134960,A,-,P305087_T,GBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105194783,105194783,-,A,P305087_T,PDCD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDCD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9001311,9001311,-,TACT,P305087_T,NRIP3,3'Flank,NA,NA,NA,NA,INS,SNVindel,downstream,NRIP3,dist=812,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47203695,47203695,A,-,P305087_T,PACSIN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACSIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68173897,68173897,G,-,P305087_T,LRP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71627002,71627003,TG,-,P305087_T,LOC100133315,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC100133315,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71939946,71939946,T,-,P305087_T,INPPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89939309,89939312,AGAA,-,P305087_T,CHORDC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CHORDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117772788,117772789,CA,-,P305087_T,TMPRSS13,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,TMPRSS13,NM_001206789:c.*166_*165delTG;NM_001077263:c.*166_*165delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr12,42503504,42503504,-,A,P305087_T,GXYLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GXYLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48519094,48519094,T,-,P305087_T,PFKM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFKM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49580753,49580753,C,-,P305087_T,TUBA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71523012,71523012,-,T,P305087_T,TSPAN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81009908,81009909,AT,-,P305087_T,PTPRQ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104408132,104408132,-,A,P305087_T,GLT8D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLT8D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122845296,122845301,ACTATT,-,P305087_T,CLIP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123103116,123103116,A,-,P305087_T,KNTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21949488,21949489,GT,-,P305087_T,MIPEPP3,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,MIPEPP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25363467,25363467,T,-,P305087_T,RNF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,35482639,35482640,TC,-,P305087_T,LINC00457,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC00457;NBEA,dist=267817;dist=33784,NA,NA,NA,NA,NA,NA,NA,NA
chr13,77644709,77644710,AC,-,P305087_T,MYCBP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYCBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,79979697,79979699,GAG,-,P305087_T,RBM26,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBM26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114783401,114783401,-,A,P305087_T,RASA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23738921,23738921,A,-,P305087_T,RNF212B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF212B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91072136,91072136,-,A,P305087_T,TTC7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103438661,103438661,C,-,P305087_T,CDC42BPB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,39881651,39881651,A,-,P305087_T,THBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,55841195,55841195,-,A,P305087_T,PYGO1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PYGO1,NM_001330326:exon2:c.50-2->T;NM_015617:exon2:c.50-2->T;NM_001367806:exon2:c.50-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3823680,3823680,-,A,P305087_T,CREBBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CREBBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23486475,23486476,AC,-,P305087_T,GGA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,68880406,68880406,T,-,P305087_T,TANGO6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TANGO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71209399,71209401,ACC,-,P305087_T,HYDIN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8136096,8136100,AAGTT,-,P305087_T,CTC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37651026,37651026,-,T,P305087_T,CDK12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42399027,42399047,GGAAGTACCAGAGGAGAGTGG,-,P305087_T,SLC25A39,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC25A39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45894762,45894762,-,T,P305087_T,OSBPL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBPL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,11886303,11886303,-,A,P305087_T,MPPE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPPE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29788478,29788478,T,-,P305087_T,MEP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61570116,61570116,G,-,P305087_T,SERPINB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6739750,6739752,GCG,-,P305087_T,TRIP10,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TRIP10,NM_004240:c.-23_-21del-;NM_001288963:c.-23_-21del-;NM_001288962:c.-23_-21del-,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7623621,7623621,-,TCTC,P305087_T,PNPLA6,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PNPLA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42620991,42620993,GAG,-,P305087_T,POU2F2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,POU2F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42858270,42858270,-,T,P305087_T,MEGF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEGF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2641546,2641548,ACC,-,P305087_T,IDH3B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IDH3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3324488,3324489,GT,-,P305087_T,C20orf194,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C20orf194,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19495477,19495477,-,A,P305087_T,CDC45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,35743203,35743207,GTGTG,-,P305087_T,TOM1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,TOM1,NM_001135729:c.*1_*5delGTGTG;NM_001135730:c.*1_*5delGTGTG;NM_001135732:c.*1_*5delGTGTG;NM_005488:c.*1_*5delGTGTG,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38766062,38766062,A,-,P305087_T,TPTEP2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TPTEP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43583077,43583088,GCGCCAGCACCC,-,P305087_T,TTLL12,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TTLL12,NM_015140:c.-2_-13delGGGTGCTGGCGC,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53629650,53629651,AT,-,P305087_T,HUWE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69698926,69698928,GCT,-,P305087_T,DLG3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DLG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100601734,100601734,-,A,P305087_T,TIMM8A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TIMM8A,NM_001145951:c.*1640_*1641insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110406672,110406672,T,-,P305087_T,PAK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,114361304,114361304,A,-,P305087_T,LRCH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRCH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12398426,12398426,-,T,P310851_F,VPS13D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22180194,22180195,CA,-,P310851_F,HSPG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HSPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23908253,23908253,-,CTCA,P310851_F,ID3,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,ID3;MDS2,dist=22261;dist=45571,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27661755,27661755,-,GTA,P310851_F,TMEM222,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TMEM222,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45287977,45287979,GCA,-,P310851_F,PTCH2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,PTCH2,NM_003738:c.*110_*108delTGC,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52927296,52927296,A,-,P310851_F,TUT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53153917,53153917,T,-,P310851_F,COA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65234217,65234217,T,-,P310851_F,RAVER2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAVER2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168161498,168161498,-,TG,P310851_F,TIPRL,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,TIPRL,NM_001031800:c.*32_*33insTG,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235316089,235316089,A,-,P310851_F,RBM34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,9607821,9607821,T,-,P310851_F,CPSF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37104946,37104946,-,G,P310851_F,STRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,54855860,54855860,A,-,P310851_F,SPTBN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTBN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61237695,61237695,-,AG,P310851_F,PUS10,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PUS10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,64195998,64195998,A,-,P310851_F,VPS54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69732572,69732573,AT,-,P310851_F,AAK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,84930815,84930815,-,T,P310851_F,DNAH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,100019613,100019613,G,-,P310851_F,REV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,116535070,116535071,CA,-,P310851_F,DPP10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,176804221,176804222,AC,-,P310851_F,LNPK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LNPK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219414447,219414447,-,A,P310851_F,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220586368,220586369,AG,-,P310851_F,SLC4A3,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,SLC4A3;LINC01803,dist=79666;dist=182403,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239241445,239241445,-,T,P310851_F,TRAF3IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAF3IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10189787,10189787,-,A,P310851_F,VHL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VHL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,16636094,16636094,A,-,P310851_F,DAZL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAZL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49048828,49048828,T,-,P310851_F,WDR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58296417,58296417,-,G,P310851_F,HTD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTD2;RPP14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58407214,58407214,-,G,P310851_F,PXK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PXK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111304091,111304092,AC,-,P310851_F,CD96,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CD96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130365174,130365174,-,T,P310851_F,COL6A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,136710642,136710643,GT,-,P310851_F,IL20RB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IL20RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183706858,183706859,GA,-,P310851_F,ABCC5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196288494,196288494,A,-,P310851_F,WDR53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1806013,1806013,G,-,P310851_F,FGFR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGFR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,2965875,2965875,C,-,P310851_F,GRK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,6537114,6537114,-,A,P310851_F,PPP2R2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48636434,48636434,-,T,P310851_F,FRYL,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FRYL,NM_015030:c.-8_-7insA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99823225,99823225,-,T,P310851_F,EIF4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103553447,103553447,-,A,P310851_F,MANBA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MANBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,159538141,159538141,A,-,P310851_F,RXFP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RXFP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,24509583,24509583,-,AG,P310851_F,CDH10,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CDH10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37024842,37024842,T,-,P310851_F,NIPBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,43294014,43294014,G,-,P310851_F,HMGCS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGCS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54639385,54639385,-,A,P310851_F,MTREX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTREX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79741305,79741305,T,-,P310851_F,ZFYVE16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFYVE16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137755108,137755108,-,C,P310851_F,KDM3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,170813893,170813893,A,-,P310851_F,MIR3912,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR3912;NPM1,dist=227,NA,NA,NA,NA,NA,NA,NA,NA
chr5,174935829,174935829,-,G,P310851_F,SFXN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFXN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179136156,179136162,TCCTAGC,-,P310851_F,CANX,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CANX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,38841158,38841158,-,T,P310851_F,DNAH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51917792,51917792,-,A,P310851_F,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,57398327,57398327,A,-,P310851_F,PRIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,138607369,138607369,-,TT,P310851_F,ARFGEF3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ARFGEF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,143458193,143458193,-,A,P310851_F,AIG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AIG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2403878,2403878,-,AG,P310851_F,EIF3B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EIF3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5983404,5983404,T,-,P310851_F,RSPH10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPH10B;RSPH10B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32958070,32958070,-,T,P310851_F,RP9P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RP9P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,35053485,35053486,TA,-,P310851_F,DPY19L1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPY19L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,39246849,39246849,-,T,P310851_F,POU6F2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POU6F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,65338335,65338337,GGC,-,P310851_F,VKORC1L1,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,VKORC1L1,NM_001284342:c.-24_-22del-;NM_173517:c.-24_-22del-,NA,NA,NA,NA,NA,NA,NA,NA
chr7,121012197,121012197,A,-,P310851_F,FAM3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10981206,10981206,-,T,P310851_F,XKR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XKR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12598317,12598317,T,-,P310851_F,LONRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LONRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42819331,42819331,-,AG,P310851_F,HOOK3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,HOOK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,94736781,94736781,G,-,P310851_F,FAM92A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM92A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34407035,34407035,-,GG,P310851_F,FAM219A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FAM219A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68409713,68409713,-,ACAC,P310851_F,LINC00537,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,LINC00537,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79934615,79934616,TA,-,P310851_F,VPS13A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130536197,130536198,AA,-,P310851_F,SH2D3C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SH2D3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,19896692,19896692,T,-,P310851_F,MALRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MALRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,28822424,28822426,CCG,-,P310851_F,WAC,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,WAC,NM_016628:c.-85_-83del-;NM_100486:c.-85_-83del-,NA,NA,NA,NA,NA,NA,NA,NA
chr10,51537112,51537112,-,A,P310851_F,TIMM23B-AGAP6,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TIMM23B-AGAP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,94407858,94407858,-,C,P310851_F,KIF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103905081,103905081,G,-,P310851_F,PPRC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115355294,115355294,T,-,P310851_F,NRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118236576,118236576,T,-,P310851_F,PNLIPRP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNLIPRP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,12248460,12248460,-,A,P310851_F,MICAL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MICAL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,44075180,44075180,-,G,P310851_F,ACCSL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACCSL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,57563800,57563800,G,-,P310851_F,TMX2-CTNND1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMX2-CTNND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67165933,67165933,C,-,P310851_F,PPP1CA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PPP1CA,NM_002708:c.*73delG;NM_206873:c.*73delG;NM_001008709:c.*73delG,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77589553,77589553,A,-,P310851_F,AAMDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AAMDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102199590,102199591,TA,-,P310851_F,BIRC3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BIRC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118454484,118454484,-,A,P310851_F,ARCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118629260,118629260,G,-,P310851_F,DDX6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124622193,124622193,-,A,P310851_F,VSIG2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,VSIG2;ESAM,dist=42;dist=830,NA,NA,NA,NA,NA,NA,NA,NA
chr12,12044535,12044535,A,-,P310851_F,ETV6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ETV6,NM_001987:c.*555delA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27066892,27066892,-,A,P310851_F,INTS13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,30822240,30822240,C,-,P310851_F,IPO8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPO8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51882355,51882355,-,T,P310851_F,SLC4A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54792618,54792620,TCT,-,P310851_F,LOC102724050,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC102724050,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54913161,54913161,-,T,P310851_F,NCKAP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56415472,56415472,-,TGTG,P310851_F,LOC105369781,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC105369781,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66858961,66858962,GG,-,P310851_F,GRIP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69633391,69633393,GGC,-,P310851_F,CPSF6,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CPSF6,NM_001300947:c.-36_-34del-;NM_007007:c.-36_-34del-,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72666481,72666483,AAG,-,P310851_F,TRHDE-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,TRHDE-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102304445,102304445,G,-,P310851_F,DRAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DRAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110729693,110729693,-,C,P310851_F,ATP2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,23251379,23251381,CTA,-,P310851_F,LINC00540,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC00540;LINC00621,dist=400720;dist=199150,NA,NA,NA,NA,NA,NA,NA,NA
chr13,28127244,28127244,T,-,P310851_F,LNX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LNX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36044337,36044337,-,A,P310851_F,RALGAPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALGAPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50432976,50432976,-,A,P310851_F,MIR6076,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR6076,dist=141,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74426347,74426348,TG,-,P310851_F,COQ6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COQ6;ENTPD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77774933,77774934,AG,-,P310851_F,POMT2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,POMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92560289,92560289,T,-,P310851_F,ATXN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATXN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93272893,93272894,AG,-,P310851_F,GOLGA5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GOLGA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44778956,44778956,-,T,P310851_F,CTDSPL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTDSPL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,53082215,53082216,TC,-,P310851_F,ONECUT1,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,ONECUT1,NM_004498:c.-134_-135delGA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,56720550,56720550,T,-,P310851_F,TEX9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,77300138,77300138,-,T,P310851_F,PSTPIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSTPIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,83808032,83808032,A,-,P310851_F,HDGFL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDGFL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91557203,91557203,-,T,P310851_F,VPS33B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS33B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11914299,11914299,-,C,P310851_F,BCAR4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BCAR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19483317,19483318,AA,-,P310851_F,TMC5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,51176120,51176120,A,-,P310851_F,SALL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SALL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71418374,71418374,T,-,P310851_F,CALB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75632160,75632160,-,G,P310851_F,ADAT1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADAT1,NM_001324444:c.*1953_*1954insC;NM_001324445:c.*1953_*1954insC;NM_001324446:c.*1953_*1954insC;NM_001324448:c.*1953_*1954insC;NM_001324449:c.*1953_*1954insC;NM_001324450:c.*1953_*1954insC;NM_001324451:c.*1953_*1954insC;NM_001324452:c.*1953_*1954insC;NM_001324453:c.*1953_*1954insC;NM_012091:c.*1953_*1954insC,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1578302,1578302,-,AG,P310851_F,PRPF8,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1953533,1953533,-,GCG,P310851_F,MIR132,5'Flank,NA,NA,NA,NA,INS,SNVindel,upstream,MIR132;MIR212,dist=231;dist=32,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5336509,5336509,-,A,P310851_F,C1QBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1QBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8812647,8812647,-,C,P310851_F,PIK3R5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3R5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9531845,9531845,-,C,P310851_F,CFAP52,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10553522,10553522,G,-,P310851_F,MYH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27861114,27861115,TC,-,P310851_F,TAOK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TAOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843745,29843745,-,A,P310851_F,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35898976,35898976,T,-,P310851_F,SYNRG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNRG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40468975,40468975,-,A,P310851_F,STAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44069148,44069148,T,-,P310851_F,MAPT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61682169,61682169,T,-,P310851_F,TACO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TACO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62075994,62075994,-,A,P310851_F,PRR29-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRR29-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,64222283,64222283,A,-,P310851_F,APOH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74297785,74297785,T,-,P310851_F,QRICH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QRICH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,218981,218981,A,-,P310851_F,THOC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,6972878,6972878,A,-,P310851_F,LAMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61388270,61388271,AC,-,P310851_F,SERPINB11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SERPINB11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,72234403,72234403,-,G,P310851_F,CNDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1395488,1395490,CGC,-,P310851_F,NDUFS7,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,NDUFS7,NM_001363602:c.*1067_*1069delCGC;NM_024407:c.*1_*3delCGC,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2538775,2538775,C,-,P310851_F,GNG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4170389,4170390,CT,-,P310851_F,CREB3L3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CREB3L3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5231218,5231218,-,T,P310851_F,PTPRS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7553585,7553585,T,-,P310851_F,PEX11G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX11G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16596143,16596143,T,-,P310851_F,CALR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17087068,17087069,CT,-,P310851_F,CPAMD8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CPAMD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17753855,17753855,T,-,P310851_F,UNC13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37859991,37859994,AGCA,-,P310851_F,ZNF875,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,ZNF875;ZNF527,dist=4633;dist=2007,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38994748,38994750,CCT,-,P310851_F,RYR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39870487,39870487,-,G,P310851_F,SAMD4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMD4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39908922,39908922,-,A,P310851_F,PLEKHG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41215752,41215752,A,-,P310851_F,COQ8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49484662,49484662,-,CC,P310851_F,GYS1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GYS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55444907,55444908,CA,-,P310851_F,NLRP7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,656407,656407,-,GGC,P310851_F,SCRT2,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,SCRT2,NM_033129:c.-163_-162insGCC,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33338325,33338325,-,A,P310851_F,NCOA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35390803,35390803,A,-,P310851_F,DSN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35436759,35436759,A,-,P310851_F,SOGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48098402,48098415,GATGCAAGCAGATC,-,P310851_F,KCNB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KCNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44452159,44452159,-,G,P310851_F,PKNOX1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PKNOX1,NM_001286258:c.*1948_*1949insG;NM_001320694:c.*1948_*1949insG;NM_004571:c.*1948_*1949insG,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20739080,20739080,-,A,P310851_F,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=32296;dist=9325,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29125306,29125306,-,G,P310851_F,CHEK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHEK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31851618,31851618,-,CA,P310851_F,EIF4ENIF1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EIF4ENIF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37326236,37326237,CT,-,P310851_F,CSF2RB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSF2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41228094,41228094,-,GG,P310851_F,ST13,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ST13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50318778,50318778,-,A,P310851_F,CRELD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRELD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19027969,19027969,-,C,P310851_F,ADGRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48053438,48053438,T,-,P310851_F,SSX5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSX5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118679316,118679316,A,-,P310851_F,CXorf56,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXorf56,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,131202408,131202408,-,T,P310851_F,STK26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10068112,10068112,A,-,P310851_S,RBP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11073628,11073628,T,-,P310851_S,TARDBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TARDBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24998662,24998662,-,T,P310851_S,SRRM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27087132,27087132,-,T,P310851_S,ARID1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40781176,40781176,G,-,P310851_S,COL9A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,86453266,86453268,TCT,-,P310851_S,COL24A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL24A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103468856,103468856,A,-,P310851_S,COL11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120612038,120612046,CCTCCGCCG,-,P310851_S,NOTCH2NLR,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,NOTCH2NLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209378,145209379,CC,-,P310851_S,NOTCH2NLB,RNA,NA,NA,NA,NA,DEL,SNVindel,exonic,NOTCH2NLB;NOTCH2NLC,NM_001364013:exon2:r.spl;NM_001364013:exon3:r.spl,frameshift deletion,NOTCH2NLB:NM_001364007:exon2:c.15_16del:p.P6Rfs*27,NA,NA,NA,NA,NA,NA
chr1,150914898,150914898,-,G,P310851_S,SETDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SETDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154185199,154185199,G,-,P310851_S,C1orf43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154407768,154407769,TT,-,P310851_S,IL6R,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IL6R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155988253,155988253,T,-,P310851_S,SSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,168161498,168161498,-,TG,P310851_S,TIPRL,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,TIPRL,NM_001031800:c.*32_*33insTG,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186343826,186343826,-,T,P310851_S,TPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201838162,201838162,-,CT,P310851_S,IPO9,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,IPO9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207091138,207091138,-,T,P310851_S,FCMR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCMR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207520786,207520786,C,-,P310851_S,CD55,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26508608,26508608,T,-,P310851_S,HADHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HADHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27716068,27716068,-,A,P310851_S,FNDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37104946,37104946,-,G,P310851_S,STRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96942393,96942393,-,AG,P310851_S,SNRNP200,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SNRNP200,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,100019613,100019613,G,-,P310851_S,REV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152732906,152732906,-,A,P310851_S,CACNB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179487314,179487314,-,T,P310851_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209141415,209141415,T,-,P310851_S,PIKFYVE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIKFYVE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219414447,219414447,-,A,P310851_S,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231741430,231741430,-,C,P310851_S,ITM2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITM2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57143407,57143407,-,CA,P310851_S,IL17RD,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,IL17RD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57276259,57276259,A,-,P310851_S,APPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58296417,58296417,-,G,P310851_S,HTD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTD2;RPP14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141892042,141892042,A,-,P310851_S,GK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,175294000,175294001,AC,-,P310851_S,NAALADL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NAALADL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183028451,183028451,A,-,P310851_S,MCF2L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCF2L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183677635,183677635,-,A,P310851_S,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195018020,195018020,A,-,P310851_S,ACAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196532149,196532149,T,-,P310851_S,PAK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,17666304,17666304,A,-,P310851_S,FAM184B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM184B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47905126,47905126,-,AT,P310851_S,NFXL1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NFXL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68202108,68202108,-,A,P310851_S,MIR1269A,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR1269A;LOC101927237,dist=1059462;dist=80915,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71693470,71693470,-,G,P310851_S,GRSF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRSF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76997200,76997202,ACT,-,P310851_S,ART3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ART3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,104066177,104066177,A,-,P310851_S,CENPE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,155469959,155469959,-,A,P310851_S,PLRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37024842,37024842,T,-,P310851_S,NIPBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80550025,80550027,TTG,-,P310851_S,CKMT2-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,CKMT2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,32943063,32943064,GT,-,P310851_S,BRD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BRD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36930483,36930484,AG,-,P310851_S,PI16,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PI16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,69785876,69785876,T,-,P310851_S,ADGRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,76332621,76332621,A,-,P310851_S,SENP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SENP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,83855440,83855440,T,-,P310851_S,DOP1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOP1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,99739842,99739842,A,-,P310851_S,FAXC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAXC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161139247,161139247,-,C,P310851_S,PLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6862017,6862017,-,A,P310851_S,CCZ1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCZ1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98522581,98522581,A,-,P310851_S,TRRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99702417,99702417,-,CACT,P310851_S,AP4M1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,AP4M1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100388495,100388495,-,CT,P310851_S,ZAN,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ZAN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100959980,100959980,-,A,P310851_S,IFT22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122269208,122269208,T,-,P310851_S,CADPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123267026,123267026,-,GG,P310851_S,ASB15,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ASB15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123267048,123267048,-,CAA,P310851_S,ASB15,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ASB15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,131195507,131195507,A,-,P310851_S,PODXL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PODXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134880706,134880706,A,-,P310851_S,WDR91,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143091747,143091747,-,CA,P310851_S,EPHA1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EPHA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,10981206,10981206,-,T,P310851_S,XKR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XKR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27637667,27637667,T,-,P310851_S,ESCO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESCO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,76467966,76467966,T,-,P310851_S,HNF4G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNF4G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,94731098,94731098,T,-,P310851_S,FAM92A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM92A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,94817178,94817178,A,-,P310851_S,TMEM67,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM67,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,98943101,98943101,-,GGCCTC,P310851_S,MATN2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MATN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,99054503,99054503,-,T,P310851_S,RPL30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104922219,104922220,TA,-,P310851_S,RIMS2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33817731,33817733,CGC,-,P310851_S,UBE2R2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,UBE2R2,NM_017811:c.-25_-23del-,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36589411,36589411,-,T,P310851_S,MELK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MELK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,97055235,97055235,-,T,P310851_S,ZNF169,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF169,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,134183299,134183299,C,-,P310851_S,PLPP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLPP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139927694,139927697,GTTT,-,P310851_S,C9orf139,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C9orf139,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,73964017,73964017,-,T,P310851_S,ASCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104238623,104238627,GGTGT,-,P310851_S,ACTR1A,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,ACTR1A,dist=359,NA,NA,NA,NA,NA,NA,NA,NA
chr11,7642423,7642423,A,-,P310851_S,PPFIBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111631375,111631375,A,-,P310851_S,PPP2R1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118266809,118266809,A,-,P310851_S,LOC100131626,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100131626,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118454484,118454484,-,A,P310851_S,ARCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,128995579,128995579,T,-,P310851_S,ARHGAP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,9455442,9455442,-,A,P310851_S,LOC642846,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC642846,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31246404,31246404,-,T,P310851_S,DDX11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53675158,53675159,GG,-,P310851_S,ESPL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ESPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54913161,54913161,-,T,P310851_S,NCKAP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57642391,57642391,-,AG,P310851_S,STAC3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,STAC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,96409475,96409475,-,A,P310851_S,LTA4H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTA4H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112535256,112535256,A,-,P310851_S,NAA25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121773202,121773203,CA,-,P310851_S,ANAPC5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANAPC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121954695,121954695,A,-,P310851_S,KDM2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,23251379,23251381,CTA,-,P310851_S,LINC00540,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC00540;LINC00621,dist=400720;dist=199150,NA,NA,NA,NA,NA,NA,NA,NA
chr13,33332209,33332209,T,-,P310851_S,PDS5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDS5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53009107,53009107,T,-,P310851_S,VPS36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,76412259,76412259,-,T,P310851_S,LMO7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMO7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36044337,36044337,-,A,P310851_S,RALGAPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALGAPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,36339547,36339547,-,T,P310851_S,BRMS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRMS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64427326,64427326,-,T,P310851_S,SYNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65204501,65204501,-,C,P310851_S,PLEKHG3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89337820,89337820,-,AT,P310851_S,TTC8,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TTC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101506159,101506159,C,-,P310851_S,MIR376A1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR376A1;MIR376A2;MIR376B;MIR654;MIR376C,dist=247;dist=67,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23299146,23299146,-,A,P310851_S,HERC2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HERC2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,25219989,25219991,AGA,-,P310851_S,SNHG14,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,SNHG14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,31266668,31266668,-,A,P310851_S,MTMR10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,32927959,32927959,-,T,P310851_S,ARHGAP11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP11A;ARHGAP11A-SCG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,63668011,63668011,T,-,P310851_S,CA12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1277740,1277741,TT,-,P310851_S,TPSB2,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,TPSB2,dist=595,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3338252,3338252,A,-,P310851_S,ZNF263,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF263,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11914299,11914299,-,C,P310851_S,BCAR4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BCAR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14772619,14772619,-,CC,P310851_S,PLA2G10,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PLA2G10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24741006,24741008,CGG,-,P310851_S,TNRC6A,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TNRC6A,NM_001330520:c.-157_-155del-;NM_014494:c.-157_-155del-,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31151483,31151483,-,C,P310851_S,PRSS36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRSS36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67761188,67761188,-,A,P310851_S,RANBP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71958477,71958477,-,AGT,P310851_S,IST1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,IST1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89754096,89754096,-,A,P310851_S,CDK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89785363,89785363,-,C,P310851_S,VPS9D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS9D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2232214,2232219,AAAAAA,-,P310851_S,TSR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8166114,8166114,A,-,P310851_S,PFAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19850686,19850686,T,-,P310851_S,AKAP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27581500,27581500,-,A,P310851_S,CRYBA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CRYBA1,NM_005208:c.*133_*134insA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27861114,27861115,TC,-,P310851_S,TAOK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TAOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29553336,29553336,-,AC,P310851_S,NF1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29843745,29843745,-,A,P310851_S,RAB11FIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB11FIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36963346,36963346,G,-,P310851_S,CWC25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CWC25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39923450,39923450,T,-,P310851_S,JUP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JUP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40135410,40135410,G,-,P310851_S,DNAJC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45022200,45022201,AG,-,P310851_S,GOSR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GOSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58332410,58332410,T,-,P310851_S,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62075994,62075994,-,A,P310851_S,PRR29-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PRR29-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73607550,73607550,A,-,P310851_S,MYO15B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO15B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,59894502,59894502,-,T,P310851_S,RELCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5231218,5231218,-,T,P310851_S,PTPRS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5685335,5685335,-,CC,P310851_S,HSD11B1L,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,HSD11B1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10291323,10291325,TCA,-,P310851_S,DNMT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13395850,13395850,C,-,P310851_S,CACNA1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14030490,14030490,-,A,P310851_S,CC2D1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CC2D1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21560315,21560316,CA,-,P310851_S,ZNF738,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ZNF738,NM_001355239:c.*30_*31delCA;NM_001355241:c.*1344_*1345delCA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36341052,36341053,AG,-,P310851_S,NPHS1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NPHS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38994748,38994750,CCT,-,P310851_S,RYR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44241426,44241427,AT,-,P310851_S,SMG9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SMG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,656407,656407,-,GGC,P310851_S,SCRT2,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,SCRT2,NM_033129:c.-163_-162insGCC,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33896778,33896778,-,A,P310851_S,UQCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UQCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34294949,34294949,-,AA,P310851_S,RBM39,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RBM39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47614571,47614571,T,-,P310851_S,ARFGEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48098402,48098415,GATGCAAGCAGATC,-,P310851_S,KCNB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KCNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17197110,17197110,-,T,P310851_S,USP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,17038696,17038697,TG,-,P310851_S,OR11H1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,OR11H1;CCT8L2,dist=588892;dist=32944,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20739080,20739080,-,A,P310851_S,FAM230G,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,FAM230G;ZNF74,dist=32296;dist=9325,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30781757,30781757,C,-,P310851_S,RNF215,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF215,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36656195,36656195,-,C,P310851_S,APOL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41228094,41228094,-,GG,P310851_S,ST13,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ST13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,50318778,50318778,-,A,P310851_S,CRELD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRELD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15364158,15364158,-,T,P310851_S,PIR-FIGF,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIR-FIGF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19027969,19027969,-,C,P310851_S,ADGRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,21613200,21613200,-,T,P310851_S,CNKSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNKSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,23693085,23693085,T,-,P310851_S,PRDX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,150573323,150573323,T,-,P310851_S,VMA21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VMA21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1395450,1395450,T,-,P342989_F,ATAD3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATAD3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9117352,9117352,A,-,P342989_F,SLC2A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10068111,10068111,-,A,P342989_F,RBP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20441897,20441897,A,-,P342989_F,PLA2G2D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G2D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21074152,21074152,A,-,P342989_F,HP1BP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HP1BP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28223981,28223981,-,A,P342989_F,RPA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36643126,36643128,AAC,-,P342989_F,MAP7D1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAP7D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67487386,67487389,ACAG,-,P342989_F,SLC35D1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC35D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89520330,89520335,AAAAAC,-,P342989_F,GBP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,113212123,113212123,-,A,P342989_F,CAPZA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPZA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115487468,115487468,-,T,P342989_F,SYCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,118616766,118616766,-,T,P342989_F,SPAG17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150849072,150849072,C,-,P342989_F,ARNT,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ARNT,NM_178427:c.-29delG;NM_001668:c.-29delG;NM_001286035:c.-18138delG;NM_001197325:c.-29delG;NM_001350225:c.-18148delG;NM_001286036:c.-29delG;NM_001350224:c.-18138delG;NM_001350226:c.-18148delG,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154112166,154112166,-,C,P342989_F,NUP210L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP210L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155298230,155298230,T,-,P342989_F,RUSC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUSC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155737426,155737427,AC,-,P342989_F,GON4L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GON4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161332092,161332092,T,-,P342989_F,SDHC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDHC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,193202032,193202032,-,A,P342989_F,CDC73,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC73,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196971507,196971508,GT,-,P342989_F,CFHR5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CFHR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,210407338,210407338,-,A,P342989_F,SERTAD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERTAD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,212900434,212900434,-,G,P342989_F,NSL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NSL1,NM_001297737:c.*11574_*11575insC;NM_001042549:c.*11604_*11605insC;NM_001297736:c.*11315_*11316insC;NM_001297739:c.*49_*50insC;NM_015471:c.*11315_*11316insC,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223727995,223727995,-,A,P342989_F,CAPN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225586738,225586738,T,-,P342989_F,DNAH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20454511,20454511,-,A,P342989_F,PUM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39201074,39201075,TA,-,P342989_F,ARHGEF33,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ARHGEF33,NM_001145451:c.*90_*91delTA;NM_001367623:c.*947_*948delTA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61171973,61171973,A,-,P342989_F,PUS10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUS10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69734840,69734841,TT,-,P342989_F,AAK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74649917,74649917,C,-,P342989_F,WDR54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,91886661,91886661,-,T,P342989_F,LOC107985911,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC107985911;LOC101927050,dist=38611;dist=1053,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98458464,98458467,ACTG,-,P342989_F,TMEM131,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMEM131,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,109100539,109100539,-,A,P342989_F,GCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118850655,118850663,GATGATGAT,-,P342989_F,INSIG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,145188051,145188052,AC,-,P342989_F,ZEB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZEB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152589616,152589616,T,-,P342989_F,NEB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,170537755,170537755,-,A,P342989_F,CCDC173,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC173,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,228175416,228175416,A,-,P342989_F,LOC654841,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC654841,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,240033156,240033156,-,C,P342989_F,HDAC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,18082840,18082840,T,-,P342989_F,LOC339862,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC339862,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,36870981,36870981,C,-,P342989_F,TRANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,41268676,41268676,-,AT,P342989_F,CTNNB1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CTNNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128991422,128991422,T,-,P342989_F,COPG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,155649472,155649472,-,TTAA,P342989_F,GMPS,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GMPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169998240,169998240,-,T,P342989_F,PRKCI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179320387,179320387,G,-,P342989_F,MRPL47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,186509258,186509258,-,A,P342989_F,RFC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,193188884,193188884,T,-,P342989_F,ATP13A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP13A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195538502,195538503,TC,-,P342989_F,MUC4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MUC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48839281,48839281,T,-,P342989_F,OCIAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OCIAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,72934578,72934578,-,T,P342989_F,NPFFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPFFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76793140,76793140,-,T,P342989_F,PPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,128932966,128932966,G,-,P342989_F,ABHD18,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABHD18,NM_001366038:c.-158del-,NA,NA,NA,NA,NA,NA,NA,NA
chr4,139153539,139153539,A,-,P342989_F,SLC7A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC7A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,52942038,52942038,-,T,P342989_F,NDUFS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54552381,54552381,A,-,P342989_F,DHX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,58882330,58882330,-,A,P342989_F,PDE4D,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PDE4D,NM_001364604:c.-405871_-405870insT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,63626252,63626252,A,-,P342989_F,RNF180,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RNF180,NM_001323292:c.*5delA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72174320,72174320,-,T,P342989_F,TNPO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNPO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79410478,79410478,A,-,P342989_F,SERINC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,86669950,86669951,AT,-,P342989_F,CCNH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCNH;RASA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,126213706,126213707,AC,-,P342989_F,MARCHF3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MARCHF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127728682,127728683,TC,-,P342989_F,FBN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,134102813,134102813,T,-,P342989_F,DDX46,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147554998,147555004,TTTTTCC,-,P342989_F,SPINK14,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,SPINK14,NM_001001325:c.*37_*43delTTTTTCC,NA,NA,NA,NA,NA,NA,NA,NA
chr6,7295543,7295543,-,T,P342989_F,SSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36393583,36393584,AT,-,P342989_F,PXT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PXT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84117634,84117635,AC,-,P342989_F,ME1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ME1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,114292110,114292112,CTG,-,P342989_F,HDAC2-AS2,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,HDAC2-AS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,122775181,122775182,AC,-,P342989_F,SERINC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SERINC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123786155,123786155,A,-,P342989_F,TRDN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRDN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,138703567,138703567,-,A,P342989_F,SMIM28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMIM28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99040299,99040299,C,-,P342989_F,ATP5MF-PTCD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5MF-PTCD1;CPSF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99128679,99128679,-,A,P342989_F,ZKSCAN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZKSCAN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107564537,107564538,GG,-,P342989_F,LAMB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LAMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123332378,123332378,-,A,P342989_F,WASL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,7191540,7191541,CA,-,P342989_F,FAM66B,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FAM66B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,16012445,16012446,AC,-,P342989_F,MSR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,24187361,24187362,TG,-,P342989_F,LOC101929294,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC101929294,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,29053762,29053762,A,-,P342989_F,KIF13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67710676,67710676,-,A,P342989_F,C8orf44-SGK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C8orf44-SGK3;SGK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,72383171,72383171,A,-,P342989_F,EYA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,101936665,101936665,T,-,P342989_F,YWHAZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YWHAZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104387736,104387737,TG,-,P342989_F,CTHRC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTHRC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104922219,104922220,TA,-,P342989_F,RIMS2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104922218,104922218,-,TA,P342989_F,RIMS2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,19094440,19094440,A,-,P342989_F,HAUS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAUS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33817731,33817733,CGC,-,P342989_F,UBE2R2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,UBE2R2,NM_017811:c.-25_-23del-,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68427939,68427940,AT,-,P342989_F,FRG1JP,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FRG1JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79820203,79820203,T,-,P342989_F,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111661948,111661948,A,-,P342989_F,ELP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,23717263,23717264,TC,-,P342989_F,LOC105376453,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC105376453;OTUD1,dist=83175;dist=10934,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27333122,27333122,A,-,P342989_F,ANKRD26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,32106658,32106658,A,-,P342989_F,ARHGAP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33542954,33542954,-,TCTGTAT,P342989_F,NRP1,Splice_Site,NA,NA,NA,NA,INS,SNVindel,splicing,NRP1,NM_001244973:exon6:c.981+2->ATACAGA;NM_001244972:exon6:c.981+2->ATACAGA;NM_001330068:exon6:c.981+2->ATACAGA;NM_003873:exon6:c.981+2->ATACAGA;NM_001024629:exon6:c.981+2->ATACAGA;NM_001024628:exon6:c.981+2->ATACAGA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,92680592,92680592,-,T,P342989_F,ANKRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,121302217,121302219,GAG,-,P342989_F,RGS10,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,RGS10,NM_001005339:c.-67_-69delCTC,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123549544,123549544,-,ACAC,P342989_F,ATE1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ATE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124183689,124183689,-,TC,P342989_F,PLEKHA1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PLEKHA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1509171,1509173,AGC,-,P342989_F,MOB2,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,MOB2;DUSP8,dist=1162;dist=66108,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8797708,8797711,CACA,-,P342989_F,LOC102724784,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC102724784,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,9493098,9493098,-,T,P342989_F,ZNF143,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF143,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,10010991,10010994,AAAT,-,P342989_F,SBF2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SBF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61043882,61043882,A,-,P342989_F,VWCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,85421990,85421990,A,-,P342989_F,SYTL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89769257,89769257,A,-,P342989_F,TRIM49C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM49C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94209327,94209328,TA,-,P342989_F,MRE11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MRE11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,95562206,95562206,A,-,P342989_F,CEP57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,114421523,114421523,-,GGTAATATATACACCTC,P342989_F,NXPE1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NXPE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118373018,118373018,-,AT,P342989_F,KMT2A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,KMT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118771285,118771288,GCCT,-,P342989_F,BCL9L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BCL9L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2970334,2970334,A,-,P342989_F,FOXM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,30887784,30887785,AC,-,P342989_F,CAPRIN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAPRIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54348562,54348567,GATGGT,-,P342989_F,HOXC12,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,HOXC12,dist=120,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56577762,56577762,-,A,P342989_F,SMARCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58202497,58202497,A,-,P342989_F,AVIL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AVIL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66232174,66232174,A,-,P342989_F,HMGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,79986479,79986479,-,A,P342989_F,PAWR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAWR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81009859,81009860,TA,-,P342989_F,PTPRQ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81063246,81063246,A,-,P342989_F,PTPRQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81205199,81205200,TA,-,P342989_F,LIN7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LIN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,97339669,97339669,-,T,P342989_F,NEDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111351964,111351965,AC,-,P342989_F,MYL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50570574,50570574,T,-,P342989_F,MIR3613,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR3613,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,103705198,103705199,AC,-,P342989_F,SLC10A2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC10A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,30095782,30095782,-,A,P342989_F,PRKD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74121532,74121532,T,-,P342989_F,DNAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75574216,75574216,T,-,P342989_F,NEK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89878232,89878232,-,A,P342989_F,FOXN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103915242,103915242,-,T,P342989_F,MARK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103964808,103964808,T,-,P342989_F,MARK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44023811,44023811,T,-,P342989_F,STRCP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,STRCP1;CATSPER2P1,dist=13353;dist=4335,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50791072,50791072,-,T,P342989_F,USP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,54707019,54707019,-,T,P342989_F,UNC13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78518951,78518951,-,A,P342989_F,ACSBG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSBG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,628995,628998,GGGC,-,P342989_F,PIGQ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIGQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2088223,2088224,AG,-,P342989_F,SLC9A3R2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,SLC9A3R2,NM_001130012:c.*238_*239delAG;NM_004785:c.*238_*239delAG;NM_001252073:c.*238_*239delAG;NM_001252075:c.*238_*239delAG;NM_001252076:c.*238_*239delAG,NA,NA,NA,NA,NA,NA,NA,NA
chr16,23723631,23723631,-,T,P342989_F,ERN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57984510,57984510,-,CAGGGAGCCTG,P342989_F,CNGB1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CNGB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5044640,5044640,-,A,P342989_F,USP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9488987,9488988,CA,-,P342989_F,CFAP52,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CFAP52,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10543123,10543123,A,-,P342989_F,MYH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19850686,19850686,T,-,P342989_F,AKAP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58300951,58300951,-,A,P342989_F,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66989137,66989137,-,A,P342989_F,ABCA9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12337643,12337645,CAG,-,P342989_F,AFG3L2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AFG3L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44656710,44656710,A,-,P342989_F,HDHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,60493391,60493391,-,T,P342989_F,PHLPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,876915,876915,C,-,P342989_F,MED16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3595376,3595376,A,-,P342989_F,TBXA2R,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TBXA2R,NM_001060:c.*310delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5587100,5587100,A,-,P342989_F,SAFB2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SAFB2,NM_014649:c.*154delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11426762,11426762,-,GTGT,P342989_F,TSPAN16,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TSPAN16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11565819,11565819,-,T,P342989_F,ELAVL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAVL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35502353,35502354,CT,-,P342989_F,GRAMD1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRAMD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39909219,39909219,A,-,P342989_F,PLEKHG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45515131,45515131,T,-,P342989_F,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49247466,49247466,-,A,P342989_F,IZUMO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IZUMO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1895485,1895486,CT,-,P342989_F,SIRPA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SIRPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,8352329,8352329,-,A,P342989_F,PLCB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34320203,34320203,A,-,P342989_F,RBM39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60900163,60900163,-,GGCAGATGAGG,P342989_F,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17236478,17236478,A,-,P342989_F,USP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24739418,24739418,-,T,P342989_F,SPECC1L-ADORA2A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SPECC1L-ADORA2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29169051,29169058,GGGCGGGC,-,P342989_F,CCDC117,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCDC117,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29682882,29682882,T,-,P342989_F,EWSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EWSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,38109016,38109016,A,-,P342989_F,TRIOBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIOBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,43640593,43640593,A,-,P342989_F,MAOB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAOB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47430612,47430613,GT,-,P342989_F,ARAF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARAF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48214186,48214186,A,-,P342989_F,SSX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53265054,53265054,C,-,P342989_F,IQSEC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQSEC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,68837768,68837768,A,-,P342989_F,EDA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,71710648,71710648,A,-,P342989_F,HDAC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153672551,153672553,CCG,-,P342989_F,FAM50A,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,FAM50A,NM_004699:c.-32_-30del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7907971,7907971,C,-,P342989_S,UTS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9117352,9117352,A,-,P342989_S,SLC2A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20504142,20504142,-,T,P342989_S,PLA2G2C,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PLA2G2C,dist=210,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27087188,27087188,-,T,P342989_S,ARID1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38454968,38454970,AAG,-,P342989_S,SF3A3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SF3A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62234929,62234929,T,-,P342989_S,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62237396,62237396,-,T,P342989_S,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78432506,78432506,-,A,P342989_S,FUBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,78998050,78998051,TA,-,P342989_S,PTGFR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTGFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,86377125,86377125,A,-,P342989_S,COL24A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL24A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89520330,89520335,AAAAAC,-,P342989_S,GBP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,114443731,114443733,AAT,-,P342989_S,AP4B1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,AP4B1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,149908375,149908377,CCT,-,P342989_S,MTMR11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MTMR11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155737426,155737427,AC,-,P342989_S,GON4L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GON4L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,210407338,210407338,-,A,P342989_S,SERTAD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERTAD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,210414880,210414880,T,-,P342989_S,SERTAD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERTAD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,212900434,212900434,-,G,P342989_S,NSL1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NSL1,NM_001297737:c.*11574_*11575insC;NM_001042549:c.*11604_*11605insC;NM_001297736:c.*11315_*11316insC;NM_001297739:c.*49_*50insC;NM_015471:c.*11315_*11316insC,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225586738,225586738,T,-,P342989_S,DNAH14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236395980,236395980,T,-,P342989_S,ERO1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERO1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,246711781,246711781,-,A,P342989_S,TFB2M,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFB2M,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7130572,7130573,TA,-,P342989_S,RNF144A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RNF144A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,17959421,17959422,AC,-,P342989_S,GEN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GEN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20518223,20518223,-,A,P342989_S,PUM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27479095,27479096,TG,-,P342989_S,SLC30A3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC30A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39201074,39201075,TA,-,P342989_S,ARHGEF33,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ARHGEF33,NM_001145451:c.*90_*91delTA;NM_001367623:c.*947_*948delTA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61546218,61546218,A,-,P342989_S,USP34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,64124486,64124486,-,A,P342989_S,VPS54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74649917,74649917,C,-,P342989_S,WDR54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74649920,74649920,-,A,P342989_S,WDR54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114346783,114346783,-,TATAG,P342989_S,WASH2P,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,WASH2P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118850655,118850663,GATGATGAT,-,P342989_S,INSIG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,144381555,144381555,-,A,P342989_S,ARHGAP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207653455,207653455,-,A,P342989_S,FASTKD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FASTKD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,223158425,223158426,CT,-,P342989_S,PAX3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,PAX3,NM_013942:c.*17_*16delAG;NM_000438:c.*399_*398delAG,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238899046,238899046,T,-,P342989_S,UBE2F-SCLY,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,UBE2F-SCLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9743209,9743209,A,-,P342989_S,MTMR14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10427117,10427117,A,-,P342989_S,ATP2B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27478842,27478842,-,A,P342989_S,SLC4A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49828024,49828024,-,A,P342989_S,CDHR4,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,CDHR4,dist=143,NA,NA,NA,NA,NA,NA,NA,NA
chr3,55003993,55003993,A,-,P342989_S,CACNA2D3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,78695354,78695354,A,-,P342989_S,ROBO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122000728,122000729,TG,-,P342989_S,CASR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CASR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,123332875,123332875,-,T,P342989_S,MYLK-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYLK-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132153228,132153228,-,A,P342989_S,DNAJC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148780854,148780854,-,T,P342989_S,HLTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,192635375,192635376,CA,-,P342989_S,MB21D2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MB21D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195538502,195538503,TC,-,P342989_S,MUC4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MUC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68499205,68499205,-,A,P342989_S,UBA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,72934578,72934578,-,T,P342989_S,NPFFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPFFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74010556,74010556,A,-,P342989_S,ANKRD17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,80929638,80929638,T,-,P342989_S,ANTXR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANTXR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,96073754,96073756,AAT,-,P342989_S,BMPR1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BMPR1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,107133862,107133862,T,-,P342989_S,TBCK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,128996166,128996166,-,T,P342989_S,LARP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,156274607,156274609,ATT,-,P342989_S,MAP9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,5234983,5234983,-,G,P342989_S,ADAMTS16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14390990,14390990,T,-,P342989_S,TRIO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37036449,37036449,-,TA,P342989_S,NIPBL,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NIPBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37307300,37307300,A,-,P342989_S,NUP155,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54552380,54552380,-,A,P342989_S,DHX29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,58882330,58882330,-,A,P342989_S,PDE4D,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PDE4D,NM_001364604:c.-405871_-405870insT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,67575324,67575324,T,-,P342989_S,PIK3R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68651636,68651636,-,A,P342989_S,AK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,72795272,72795273,AC,-,P342989_S,BTF3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BTF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74097345,74097346,CA,-,P342989_S,FAM169A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM169A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79410478,79410478,A,-,P342989_S,SERINC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80088494,80088494,T,-,P342989_S,MSH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,96139093,96139093,-,A,P342989_S,ERAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127646859,127646859,-,A,P342989_S,FBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147665422,147665422,A,-,P342989_S,LOC102546294,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102546294,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10647160,10647160,A,-,P342989_S,GCNT2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,GCNT2;C6orf52,dist=17559;dist=24491,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47567210,47567210,-,A,P342989_S,CD2AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD2AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55147362,55147362,T,-,P342989_S,HCRTR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HCRTR2,NM_001526:c.*110delT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55922327,55922327,-,A,P342989_S,COL21A1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,COL21A1,NM_001318754:c.*127_*128insT;NM_001318751:c.*127_*128insT;NM_001318753:c.*127_*128insT;NM_001318752:c.*127_*128insT;NM_030820:c.*127_*128insT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70092934,70092934,-,A,P342989_S,ADGRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70866387,70866388,GA,-,P342989_S,COL19A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL19A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,80722945,80722945,-,T,P342989_S,TTK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88240358,88240358,-,A,P342989_S,RARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,121412191,121412191,-,A,P342989_S,TBC1D32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,132791887,132791888,TG,-,P342989_S,STX7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STX7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,133108764,133108764,T,-,P342989_S,SLC18B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC18B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,139581357,139581360,AAAT,-,P342989_S,TXLNB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TXLNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160133151,160133162,ACCTCCATAACC,-,P342989_S,SOD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,170059146,170059147,AC,-,P342989_S,WDR27,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WDR27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2290782,2290782,T,-,P342989_S,NUDT1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,NUDT1;SNX8,dist=623,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5770274,5770276,AAC,-,P342989_S,RNF216,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RNF216,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22857030,22857030,-,T,P342989_S,TOMM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOMM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,36580193,36580194,CA,-,P342989_S,AOAH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AOAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,82785720,82785720,A,-,P342989_S,PCLO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCLO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94257450,94257451,AC,-,P342989_S,SGCE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SGCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98533361,98533361,-,A,P342989_S,TRRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99757343,99757343,A,-,P342989_S,GAL3ST4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GAL3ST4,NM_024637:c.*208delT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,104754141,104754141,T,-,P342989_S,KMT2E,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KMT2E,NM_018682:c.*361delT;NM_182931:c.*361delT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107564537,107564538,GG,-,P342989_S,LAMB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LAMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,130038411,130038411,-,A,P342989_S,CEP41,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CEP41,NM_018718:c.*320_*321insT;NM_001257159:c.*320_*321insT;NM_001257158:c.*320_*321insT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150919376,150919376,T,-,P342989_S,ABCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCF2;LOC114483834,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,29053762,29053762,A,-,P342989_S,KIF13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,73926356,73926357,GT,-,P342989_S,TERF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TERF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,77690747,77690748,AC,-,P342989_S,ZFHX4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZFHX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86022337,86022337,T,-,P342989_S,LRRCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95423552,95423552,A,-,P342989_S,RAD54B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD54B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95750547,95750547,A,-,P342989_S,DPY19L4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPY19L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100287564,100287564,T,-,P342989_S,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,101105742,101105742,A,-,P342989_S,RGS22,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS22,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104922218,104922218,-,TA,P342989_S,RIMS2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104933053,104933053,-,A,P342989_S,RIMS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,108359117,108359117,-,A,P342989_S,ANGPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110334771,110334771,A,-,P342989_S,NUDCD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDCD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,142161551,142161563,TTGGGAGGCCAAG,-,P342989_S,DENND3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DENND3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,118159,118159,G,-,P342989_S,FOXD4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FOXD4,NM_207305:c.-40delC,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415370,68415370,G,-,P342989_S,MIR4477A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4477A;MIR4477B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,129243626,129243626,-,T,P342989_S,MVB12B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MVB12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,5498538,5498538,T,-,P342989_S,NET1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NET1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,17126546,17126547,CA,-,P342989_S,CUBN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CUBN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,52610353,52610354,TG,-,P342989_S,A1CF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,A1CF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75135833,75135833,-,A,P342989_S,ANXA7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANXA7,NM_001320879:c.*19_*20insT;NM_001320880:c.*19_*20insT;NM_004034:c.*19_*20insT;NM_001156:c.*19_*20insT,NA,NA,NA,NA,NA,NA,NA,NA
chr10,89720634,89720634,T,-,P342989_S,PTEN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTEN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97602452,97602452,A,-,P342989_S,ENTPD1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ENTPD1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,103565712,103565712,A,-,P342989_S,OGA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104620163,104620163,-,T,P342989_S,BORCS7-ASMT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,BORCS7-ASMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105208932,105208932,A,-,P342989_S,CALHM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALHM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135088633,135088633,-,C,P342989_S,ADAM8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135197846,135197846,-,C,P342989_S,PAOX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAOX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,903782,903782,A,-,P342989_S,CHID1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHID1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3063660,3063660,-,T,P342989_S,CARS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8716272,8716272,-,T,P342989_S,ST5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ST5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8797708,8797711,CACA,-,P342989_S,LOC102724784,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC102724784,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17111198,17111199,GT,-,P342989_S,PIK3C2A,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,PIK3C2A,NM_002645:c.*87_*86delAC;NM_001321380:c.*87_*86delAC;NM_001321378:c.*87_*86delAC,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46685496,46685496,T,-,P342989_S,ATG13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49196555,49196555,-,A,P342989_S,FOLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62519422,62519422,-,A,P342989_S,ZBTB3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZBTB3,NM_001363108:c.*139_*140insT;NM_001363109:c.*139_*140insT;NM_024784:c.*139_*140insT;NM_001370809:c.*139_*140insT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71806888,71806890,TTG,-,P342989_S,LRTOMT,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,LRTOMT,NM_001205138:c.*322_*324delTTG;NM_001271471:c.*742_*744delTTG;NM_001318803:c.*322_*324delTTG;NM_145309:c.*322_*324delTTG,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74053486,74053486,A,-,P342989_S,PGM2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77589553,77589553,A,-,P342989_S,AAMDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AAMDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94265044,94265044,T,-,P342989_S,C11orf97,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C11orf97,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,114421523,114421523,-,GGTAATATATACACCTC,P342989_S,NXPE1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NXPE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118373018,118373018,-,AT,P342989_S,KMT2A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,KMT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6840127,6840128,TC,-,P342989_S,COPS7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COPS7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,19475611,19475611,T,-,P342989_S,PLEKHA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21615934,21615934,-,A,P342989_S,PYROXD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PYROXD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,26808547,26808547,A,-,P342989_S,ITPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,32520461,32520461,A,-,P342989_S,BICD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BICD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64838770,64838770,-,A,P342989_S,XPOT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPOT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81063246,81063246,A,-,P342989_S,PTPRQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81205199,81205200,TA,-,P342989_S,LIN7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LIN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,98993270,98993270,-,T,P342989_S,SLC25A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102008088,102008089,GT,-,P342989_S,MYBPC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104133306,104133307,TG,-,P342989_S,STAB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109510087,109510087,T,-,P342989_S,USP30,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111351964,111351965,AC,-,P342989_S,MYL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122348667,122348667,A,-,P342989_S,PSMD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123031923,123031923,A,-,P342989_S,KNTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24460051,24460051,-,A,P342989_S,MIPEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIPEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53007886,53007886,-,A,P342989_S,VPS36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99970257,99970257,T,-,P342989_S,UBAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50121449,50121449,-,T,P342989_S,POLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53130318,53130318,A,-,P342989_S,ERO1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERO1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64427327,64427327,T,-,P342989_S,SYNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,71205190,71205191,CA,-,P342989_S,MAP3K9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAP3K9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74393793,74393793,T,-,P342989_S,ZNF410,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF410,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76173932,76173932,T,-,P342989_S,TTLL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,39881651,39881651,A,-,P342989_S,THBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44852434,44852434,T,-,P342989_S,EIF3J,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3J,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,49926994,49926994,A,-,P342989_S,DTWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69548046,69548046,-,A,P342989_S,GLCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,70987451,70987451,A,-,P342989_S,UACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,79304781,79304782,TC,-,P342989_S,RASGRF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RASGRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,628995,628998,GGGC,-,P342989_S,PIGQ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIGQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,7645761,7645762,TA,-,P342989_S,RBFOX1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBFOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,19508216,19508216,-,G,P342989_S,TMC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20750498,20750498,-,T,P342989_S,THUMPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THUMPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28655923,28655923,T,-,P342989_S,NPIPB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPIPB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56687032,56687032,T,-,P342989_S,MT1B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MT1B,NM_005947:c.*55delT,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57466223,57466223,-,A,P342989_S,CIAPIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIAPIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57984510,57984510,-,CAGGGAGCCTG,P342989_S,CNGB1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CNGB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58509709,58509709,T,-,P342989_S,NDRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69385403,69385403,-,A,P342989_S,TMED6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMED6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70268053,70268053,-,A,P342989_S,SMG1P7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SMG1P7;EXOSC6,dist=8117;dist=12629,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70595515,70595515,T,-,P342989_S,SF3B3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF3B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7132242,7132242,-,A,P342989_S,DVL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DVL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8218060,8218060,-,AA,P342989_S,ARHGEF15,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ARHGEF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17716448,17716448,T,-,P342989_S,SREBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SREBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30538051,30538051,T,-,P342989_S,RHOT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RHOT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30700338,30700338,A,-,P342989_S,ZNF207,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF207;PSMD11,dist=2870;dist=71190,NA,NA,NA,NA,NA,NA,NA,NA
chr17,31324395,31324395,-,CA,P342989_S,SPACA3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SPACA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38644759,38644760,TG,-,P342989_S,TNS4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,39974191,39974191,-,A,P342989_S,FKBP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FKBP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42991734,42991735,CA,-,P342989_S,GFAP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GFAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58300951,58300951,-,A,P342989_S,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65156546,65156546,A,-,P342989_S,HELZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HELZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,5960035,5960042,ATACACAC,-,P342989_S,L3MBTL4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,L3MBTL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,14187363,14187366,TCTT,-,P342989_S,ANKRD20A5P,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ANKRD20A5P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19021347,19021347,T,-,P342989_S,GREB1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GREB1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29703615,29703615,-,T,P342989_S,RNF138,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF138,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,31322827,31322827,-,T,P342989_S,ASXL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASXL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,59166763,59166764,AC,-,P342989_S,CDH20,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDH20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,68019182,68019183,TC,-,P342989_S,LINC01909,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LINC01909,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,76870316,76870316,A,-,P342989_S,ATP9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16594979,16594979,C,-,P342989_S,CALR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35502353,35502354,CT,-,P342989_S,GRAMD1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRAMD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37398705,37398705,-,A,P342989_S,ZNF829,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF829,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39077896,39077897,AT,-,P342989_S,RYR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39909219,39909219,A,-,P342989_S,PLEKHG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,43919911,43919911,-,A,P342989_S,TEX101,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX101,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46807468,46807468,T,-,P342989_S,HIF3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIF3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49526080,49526081,TG,-,P342989_S,CGB3,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,CGB3,dist=45,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53456645,53456645,-,A,P342989_S,ZNF816,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF816;ZNF816-ZNF321P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,15843351,15843351,-,T,P342989_S,MACROD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACROD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29628442,29628442,T,-,P342989_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34320203,34320203,A,-,P342989_S,RBM39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,54823685,54823686,TC,-,P342989_S,MC3R,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MC3R,dist=102,NA,NA,NA,NA,NA,NA,NA,NA
chr20,60900163,60900163,-,GGCAGATGAGG,P342989_S,MIR1-1HG-AS1,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,MIR1-1HG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62062654,62062655,CA,-,P342989_S,KCNQ2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KCNQ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17236478,17236478,A,-,P342989_S,USP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34066627,34066627,-,A,P342989_S,SYNJ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNJ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34903298,34903298,-,T,P342989_S,GART,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GART,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44296933,44296933,-,T,P342989_S,WDR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23247013,23247013,-,T,P342989_S,IGLL5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IGLL5;RSPH14,dist=8722;dist=154580,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32546963,32546963,A,-,P342989_S,C22orf42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C22orf42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36721213,36721214,GA,-,P342989_S,MYH9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15677316,15677317,CA,-,P342989_S,CLTRN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,18779847,18779847,-,T,P342989_S,PPEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,23703938,23703938,-,T,P342989_S,PRDX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,38226428,38226428,A,-,P342989_S,OTC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47430612,47430613,GT,-,P342989_S,ARAF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARAF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48214186,48214186,A,-,P342989_S,SSX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,52842128,52842129,CA,-,P342989_S,XAGE5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,XAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,68837768,68837768,A,-,P342989_S,EDA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,71896111,71896112,AT,-,P342989_S,PHKA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHKA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,78618385,78618386,AG,-,P342989_S,ITM2A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITM2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,86087096,86087096,-,T,P342989_S,DACH2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DACH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100077084,100077084,-,A,P342989_S,CSTF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSTF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107840190,107840191,TG,-,P342989_S,COL4A5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107939644,107939645,AT,-,P342989_S,COL4A5,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,COL4A5,NM_000495:c.*36_*37delAT;NM_033380:c.*36_*37delAT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129362816,129362816,-,T,P342989_S,ZNF280C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF280C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7166316,7166317,GA,-,P364157_F,CAMTA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAMTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26644615,26644618,GGAG,-,P364157_F,UBXN11,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,UBXN11,NM_145345:c.-15241_-15244delCTCC,NA,NA,NA,NA,NA,NA,NA,NA
chr1,29139329,29139329,G,-,P364157_F,OPRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OPRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38292296,38292296,-,T,P364157_F,MTF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38293846,38293846,A,-,P364157_F,MTF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39930718,39930718,T,-,P364157_F,MACF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MACF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148594260,148594260,T,-,P364157_F,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151039577,151039577,A,-,P364157_F,MLLT11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLLT11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161332092,161332092,T,-,P364157_F,SDHC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SDHC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181680007,181680008,CT,-,P364157_F,CACNA1E,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CACNA1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202736223,202736224,TT,-,P364157_F,KDM5B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KDM5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220355434,220355434,T,-,P364157_F,RAB3GAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3GAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,242045337,242045337,T,-,P364157_F,EXO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,58390219,58390219,A,-,P364157_F,FANCL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74649934,74649934,-,C,P364157_F,WDR54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113307077,113307077,T,-,P364157_F,POLR1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171911714,171911714,A,-,P364157_F,TLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203378404,203378404,-,A,P364157_F,BMPR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203680555,203680555,A,-,P364157_F,ICA1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ICA1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220022774,220022785,AGAAGTACAGGT,-,P364157_F,NHEJ1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NHEJ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,224749576,224749576,-,TTCT,P364157_F,WDFY1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,WDFY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,225668718,225668719,TG,-,P364157_F,DOCK10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DOCK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234079552,234079554,AAA,-,P364157_F,INPP5D,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INPP5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10076842,10076842,-,T,P364157_F,FANCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,119900211,119900211,G,-,P364157_F,GPR156,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR156,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,181431226,181431226,-,A,P364157_F,SOX2-OT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SOX2-OT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,17814927,17814927,A,-,P364157_F,NCAPG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,37831492,37831492,-,TT,P364157_F,PGM2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PGM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42596462,42596463,AC,-,P364157_F,ATP8A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP8A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,56770491,56770491,T,-,P364157_F,EXOC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57872900,57872900,-,T,P364157_F,POLR2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLR2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89711691,89711691,A,-,P364157_F,FAM13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14681343,14681343,T,-,P364157_F,OTULIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTULIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,96116100,96116101,AT,-,P364157_F,ERAP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ERAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148884874,148884874,-,T,P364157_F,CSNK1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSNK1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,171520973,171520974,AT,-,P364157_F,STK10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,4052173,4052173,T,-,P364157_F,PRPF4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136598895,136598895,-,A,P364157_F,BCLAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCLAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48048729,48048729,T,-,P364157_F,SUN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98655229,98655229,T,-,P364157_F,SMURF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMURF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100464996,100464996,A,-,P364157_F,MIR6875,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR6875;TRIP6;SLC12A9,dist=13;dist=362,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102462901,102462902,AG,-,P364157_F,FBXL13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBXL13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103127001,103127001,A,-,P364157_F,LOC101927870,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927870,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,112555294,112555294,-,A,P364157_F,BMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,112579812,112579814,GCC,-,P364157_F,BMT2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,BMT2,NM_152556:c.-7_-9delGGC,NA,NA,NA,NA,NA,NA,NA,NA
chr8,55050033,55050033,T,-,P364157_F,MRPL15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144459345,144459346,TG,-,P364157_F,RHPN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RHPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99122512,99122512,A,-,P364157_F,SLC35D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC35D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131397627,131397627,A,-,P364157_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132665321,132665321,-,T,P364157_F,FNBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,133556608,133556612,CCCCG,-,P364157_F,PRDM12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRDM12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,12226871,12226871,A,-,P364157_F,NUDT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,93596654,93596655,TC,-,P364157_F,TNKS2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNKS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115385975,115385976,CA,-,P364157_F,NRAP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,2431996,2431997,CA,-,P364157_F,TRPM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRPM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,20114866,20114866,A,-,P364157_F,NAV2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAV2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61548127,61548131,TCTTC,-,P364157_F,MYRF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYRF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63078575,63078575,-,A,P364157_F,SLC22A10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC22A10,NM_001039752:c.*69_*70insA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75046001,75046001,A,-,P364157_F,ARRB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARRB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77064502,77064502,A,-,P364157_F,PAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,82923945,82923945,-,T,P364157_F,ANKRD42,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANKRD42,NM_001300977:c.*240_*241insT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,121475050,121475059,GGGCTGGGCT,-,P364157_F,SORL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SORL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126146772,126146772,A,-,P364157_F,FOXRED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXRED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15710274,15710274,T,-,P364157_F,PTPRO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64821982,64821982,-,A,P364157_F,XPOT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPOT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,93221849,93221849,-,A,P364157_F,EEA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EEA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102492805,102492805,-,T,P364157_F,NUP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109998804,109998817,CCCTCTCCCTTGGG,-,P364157_F,MMAB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MMAB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111651723,111651723,-,A,P364157_F,CUX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112515955,112515955,A,-,P364157_F,NAA25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132283561,132283562,CT,-,P364157_F,SFSWAP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SFSWAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133297241,133297242,TC,-,P364157_F,PGAM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PGAM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,34029215,34029215,-,A,P364157_F,NPAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50300780,50300780,-,T,P364157_F,NEMF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEMF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58727860,58727860,T,-,P364157_F,PSMA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94567054,94567056,TTG,-,P364157_F,IFI27L1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IFI27L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,30003291,30003291,-,A,P364157_F,TJP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TJP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,51689648,51689649,TC,-,P364157_F,GLDN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GLDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29910432,29910432,T,-,P364157_F,SEZ6L2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SEZ6L2,NM_001243333:c.-92delA;NM_201575:c.-92delA;NM_001114100:c.-92delA;NM_001243332:c.-92delA;NM_012410:c.-92delA;NM_001114099:c.-92delA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67409042,67409042,A,-,P364157_F,LRRC36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26971966,26971968,CCG,-,P364157_F,KIAA0100,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KIAA0100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77089430,77089430,-,T,P364157_F,ATP9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21372654,21372654,-,T,P364157_F,ZNF431,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF431,NM_133473:c.*5817_*5818insT;NM_001319124:c.*5817_*5818insT;NM_001319126:c.*5817_*5818insT;NM_001319127:c.*5817_*5818insT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39218707,39218708,CT,-,P364157_F,ACTN4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ACTN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41192563,41192564,TG,-,P364157_F,NUMBL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NUMBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45515131,45515131,T,-,P364157_F,RELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55423968,55423980,AAAAAAAAAAAAA,-,P364157_F,NCR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56228400,56228400,T,-,P364157_F,NLRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57285915,57285915,T,-,P364157_F,ZIM2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZIM2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10439002,10439002,T,-,P364157_F,SLX4IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLX4IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43610751,43610753,TTT,-,P364157_F,STK4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62508387,62508387,T,-,P364157_F,TPD52L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPD52L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32084014,32084015,AA,-,P364157_F,PRR14L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRR14L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40813065,40813065,A,-,P364157_F,MRTFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRTFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,9622194,9622194,-,A,P364157_F,TBL1X,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBL1X,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2087696,2087696,-,T,P364157_S,PRKCZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6692274,6692274,A,-,P364157_S,THAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,11036395,11036395,T,-,P364157_S,C1orf127,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf127,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92108275,92108275,A,-,P364157_S,CDC7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CDC7;TGFBR3,dist=116954;dist=37625,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150082514,150082514,A,-,P364157_S,VPS45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151384305,151384305,-,A,P364157_S,POGZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POGZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151955803,151955803,-,A,P364157_S,S100A10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,S100A10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154027186,154027187,GA,-,P364157_S,NUP210L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NUP210L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155691192,155691193,TA,-,P364157_S,DAP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156502983,156502983,G,-,P364157_S,IQGAP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,184663644,184663644,A,-,P364157_S,EDEM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDEM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,198492491,198492491,T,-,P364157_S,ATP6V1G3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ATP6V1G3,NM_001320218:c.*30delA;NM_133326:c.*253delA;NM_133262:c.*30delA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220355434,220355434,T,-,P364157_S,RAB3GAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB3GAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225707272,225707272,A,-,P364157_S,ENAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,231700228,231700229,TG,-,P364157_S,TSNAX-DISC1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,TSNAX-DISC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,36785668,36785668,A,-,P364157_S,FEZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FEZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37232731,37232731,-,A,P364157_S,HEATR5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46844374,46844376,CTG,-,P364157_S,CRIPT,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CRIPT,NM_014171:c.-48_-46del-,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74649934,74649934,-,C,P364157_S,WDR54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120997869,120997869,-,T,P364157_S,TMEM185B,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TMEM185B;RALB,dist=16893;dist=12559,NA,NA,NA,NA,NA,NA,NA,NA
chr2,141298760,141298761,TC,-,P364157_S,LRP1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LRP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,166898938,166898938,-,A,P364157_S,SCN1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197118809,197118831,CTAAATCCCAAAGGAGTAGAATA,-,P364157_S,HECW2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HECW2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220586368,220586369,AG,-,P364157_S,SLC4A3,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,SLC4A3;LINC01803,dist=79666;dist=182403,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234688295,234688296,TG,-,P364157_S,MROH2A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MROH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241079883,241079883,-,A,P364157_S,OTOS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14486951,14486954,AAAG,-,P364157_S,SLC6A6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC6A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,30819583,30819586,GCTA,-,P364157_S,GADL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GADL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45748586,45748586,-,T,P364157_S,SACM1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SACM1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,77613988,77613989,TG,-,P364157_S,ROBO2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ROBO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130653386,130653386,-,T,P364157_S,ATP2C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150282062,150282062,T,-,P364157_S,EIF2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,178919397,178919397,-,T,P364157_S,PIK3CA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,181431226,181431226,-,A,P364157_S,SOX2-OT,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SOX2-OT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,41940494,41940496,ATG,-,P364157_S,TMEM33,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMEM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,42596462,42596463,AC,-,P364157_S,ATP8A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP8A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,56770491,56770491,T,-,P364157_S,EXOC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120220085,120220085,-,AAAC,P364157_S,C4orf3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,C4orf3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,128932966,128932966,G,-,P364157_S,ABHD18,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABHD18,NM_001366038:c.-158del-,NA,NA,NA,NA,NA,NA,NA,NA
chr4,185634172,185634172,A,-,P364157_S,CENPU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,185686949,185686950,AC,-,P364157_S,ACSL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ACSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1116051,1116051,-,T,P364157_S,SLC12A7,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC12A7;CTD-3080P12.3,dist=3873;dist=57160,NA,NA,NA,NA,NA,NA,NA,NA
chr5,41909830,41909830,-,T,P364157_S,C5orf51,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C5orf51,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68396764,68396764,-,G,P364157_S,SLC30A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC30A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70837260,70837260,-,T,P364157_S,BDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127728682,127728683,TC,-,P364157_S,FBN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,130535204,130535204,-,T,P364157_S,LYRM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LYRM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,140963624,140963624,A,-,P364157_S,DIAPH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIAPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,148989044,148989044,C,-,P364157_S,ARHGEF37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177562183,177562183,-,TG,P364157_S,RMND5B,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,RMND5B,NM_001288795:c.-31_-30insTG;NM_001288794:c.-2938_-2937insTG,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178140630,178140630,-,A,P364157_S,ZNF354A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF354A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,28403542,28403542,A,-,P364157_S,ZSCAN23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,37322190,37322190,G,-,P364157_S,RNF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41057862,41057862,-,T,P364157_S,NFYA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYA;OARD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,49701625,49701626,AC,-,P364157_S,CRISP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CRISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105300260,105300260,-,AAC,P364157_S,HACE1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,HACE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136598895,136598895,-,A,P364157_S,BCLAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCLAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,147122535,147122535,-,A,P364157_S,ADGB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,7557619,7557619,A,-,P364157_S,COL28A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,36483232,36483232,A,-,P364157_S,ANLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,77807188,77807188,A,-,P364157_S,MAGI2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98588435,98588439,TGAAA,-,P364157_S,TRRAP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100229247,100229247,A,-,P364157_S,TFR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134925242,134925242,A,-,P364157_S,STRA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142990208,142990208,T,-,P364157_S,CASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27913593,27913593,A,-,P364157_S,NUGGC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUGGC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,55050033,55050033,T,-,P364157_S,MRPL15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62574514,62574514,A,-,P364157_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,65528843,65528843,A,-,P364157_S,CYP7B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP7B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74601070,74601070,A,-,P364157_S,STAU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104438563,104438563,G,-,P364157_S,DCAF13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,117864952,117864952,-,A,P364157_S,RAD21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121502681,121502681,T,-,P364157_S,MTBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133978773,133978773,T,-,P364157_S,TG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68409713,68409713,-,ACAC,P364157_S,LINC00537,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,LINC00537,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,73458046,73458046,A,-,P364157_S,TRPM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,87475807,87475810,TTTA,-,P364157_S,NTRK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NTRK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125316567,125316567,-,A,P364157_S,OR1N2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR1N2,dist=74,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13350591,13350591,T,-,P364157_S,PHYH,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PHYH;SEPHS1,dist=8461;dist=8838,NA,NA,NA,NA,NA,NA,NA,NA
chr10,69957000,69957000,A,-,P364157_S,MYPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70946100,70946100,-,AG,P364157_S,SUPV3L1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SUPV3L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,93596654,93596655,TC,-,P364157_S,TNKS2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNKS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114154568,114154569,GT,-,P364157_S,ACSL5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ACSL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,120467214,120467214,A,-,P364157_S,CACUL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACUL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,120914415,120914415,T,-,P364157_S,SFXN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFXN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134237262,134237263,TG,-,P364157_S,PWWP2B,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,PWWP2B;C10orf91,dist=5904;dist=21430,NA,NA,NA,NA,NA,NA,NA,NA
chr11,48388094,48388094,-,TT,P364157_S,OR4C5,5'Flank,NA,NA,NA,NA,INS,SNVindel,upstream,OR4C5,dist=54,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62438619,62438619,-,A,P364157_S,LBHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LBHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64004578,64004578,A,-,P364157_S,VEGFB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VEGFB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,72552420,72552420,T,-,P364157_S,FCHSD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCHSD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73362399,73362400,AA,-,P364157_S,PLEKHB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLEKHB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,82561157,82561158,AT,-,P364157_S,PRCP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRCP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89515318,89515318,T,-,P364157_S,TRIM77,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TRIM77;TRIM49,dist=64278;dist=15505,NA,NA,NA,NA,NA,NA,NA,NA
chr11,106695515,106695515,T,-,P364157_S,GUCY1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107207442,107207442,A,-,P364157_S,CWF19L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CWF19L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113815144,113815144,G,-,P364157_S,HTR3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTR3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,116652729,116652729,A,-,P364157_S,ZPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118307156,118307156,C,-,P364157_S,KMT2A,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,KMT2A,dist=49,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7585444,7585444,A,-,P364157_S,CD163L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD163L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,25368594,25368594,T,-,P364157_S,KRAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,30903904,30903905,TG,-,P364157_S,CAPRIN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAPRIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51392897,51392897,-,A,P364157_S,SLC11A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC11A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53242107,53242107,C,-,P364157_S,KRT78,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56096601,56096602,AC,-,P364157_S,ITGA7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITGA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,68690766,68690766,A,-,P364157_S,MDM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80650069,80650070,CT,-,P364157_S,OTOGL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OTOGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81205199,81205200,TA,-,P364157_S,LIN7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LIN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,86229881,86229882,AC,-,P364157_S,RASSF9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RASSF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,91340253,91340253,T,-,P364157_S,LINC00615,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00615,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111290679,111290680,AG,-,P364157_S,CCDC63,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CCDC63,NM_152591:c.-80_-79del-,NA,NA,NA,NA,NA,NA,NA,NA
chr13,31035467,31035467,-,A,P364157_S,HMGB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HMGB1,NM_002128:c.*26_*27insT;NM_001370341:c.*26_*27insT;NM_001370340:c.*26_*27insT;NM_001370339:c.*352_*353insT;NM_001363661:c.*247_*248insT;NM_001313893:c.*26_*27insT;NM_001313892:c.*26_*27insT,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46148944,46148944,G,-,P364157_S,ERICH6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERICH6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46704724,46704724,T,-,P364157_S,LCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,101742412,101742413,TG,-,P364157_S,NALCN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NALCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,112278131,112278145,CAGCACTCATAGTCA,-,P364157_S,LINC02337,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LINC02337,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20264463,20264463,T,-,P364157_S,OR4M1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR4M1;OR4N2,dist=15040;dist=7466,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24512998,24512998,A,-,P364157_S,DHRS4L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS4L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39605629,39605629,T,-,P364157_S,GEMIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEMIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58599675,58599676,GT,-,P364157_S,ARMH4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARMH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,63881730,63881731,TA,-,P364157_S,PPP2R5E,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PPP2R5E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,81360894,81360894,A,-,P364157_S,CEP128,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89647297,89647297,-,AC,P364157_S,FOXN3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FOXN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96752442,96752442,-,A,P364157_S,ATG2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,99737652,99737654,GCC,-,P364157_S,BCL11B,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,BCL11B,NM_138576:c.-97_-99delGGC;NM_022898:c.-97_-99delGGC;NM_001282237:c.-97_-99delGGC;NM_001282238:c.-97_-99delGGC,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23333802,23333802,A,-,P364157_S,HERC2P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HERC2P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41364264,41364264,G,-,P364157_S,INO80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INO80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43252974,43252974,-,T,P364157_S,UBR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,51689648,51689649,TC,-,P364157_S,GLDN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GLDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59974526,59974526,A,-,P364157_S,BNIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1877141,1877141,G,-,P364157_S,HAGH,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,HAGH,NM_001286249:c.-353delC;NM_001040427:c.-4171delC;NM_001363912:c.-353delC;NM_001363914:c.-4171delC,NA,NA,NA,NA,NA,NA,NA,NA
chr16,5517198,5517198,-,C,P364157_S,EEF2KMT,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,EEF2KMT;LINC01570,dist=369377;dist=133972,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11980878,11980878,-,T,P364157_S,GSPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,32442105,32442107,TAT,-,P364157_S,LOC390705,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC390705;LOC105369266,dist=140803;dist=219357,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67409042,67409042,A,-,P364157_S,LRRC36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7990556,7990557,AC,-,P364157_S,ALOX12B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ALOX12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,16344891,16344891,T,-,P364157_S,SNHG29,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,SNHG29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29195528,29195528,T,-,P364157_S,ATAD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATAD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,31319127,31319128,GA,-,P364157_S,SPACA3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPACA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35294340,35294340,-,A,P364157_S,LHX1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LHX1;LHX1-DT,dist=432,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21644076,21644077,TG,-,P364157_S,TTC39C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTC39C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44424652,44424652,T,-,P364157_S,PIAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,53723897,53723897,-,A,P364157_S,LINC01905,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01905;LOC642484,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1496562,1496563,CT,-,P364157_S,REEP6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,REEP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3642656,3642656,-,A,P364157_S,PIP5K1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIP5K1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4550371,4550374,AACG,-,P364157_S,SEMA6B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SEMA6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5753573,5753573,A,-,P364157_S,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5753718,5753718,A,-,P364157_S,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10795003,10795003,-,T,P364157_S,ILF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ILF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11409112,11409112,T,-,P364157_S,TSPAN16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11465066,11465066,-,A,P364157_S,CCDC159,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC159,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49437987,49437990,TCTT,-,P364157_S,DHDH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DHDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,825319,825319,T,-,P364157_S,FAM110A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM110A,NM_031424:c.-129del-,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33421350,33421350,-,T,P364157_S,HMGB3P1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HMGB3P1,dist=28,NA,NA,NA,NA,NA,NA,NA,NA
chr20,46256786,46256787,TC,-,P364157_S,NCOA3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NCOA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909694,10909698,GCGAA,-,P364157_S,TPTE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37665504,37665504,A,-,P364157_S,DOP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,9622195,9622195,A,-,P364157_S,TBL1X,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBL1X,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19389185,19389185,A,-,P364157_S,MAP3K15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,21544905,21544907,TTG,-,P364157_S,CNKSR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CNKSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,38226428,38226428,A,-,P364157_S,OTC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,44935877,44935877,-,T,P364157_S,KDM6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1247578,1247578,-,GG,P376588_F,INTS11,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,INTS11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9006102,9006102,T,-,P376588_F,CA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21074152,21074152,A,-,P376588_F,HP1BP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HP1BP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23660245,23660245,A,-,P376588_F,HNRNPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41456808,41456808,-,T,P376588_F,CTPS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145018102,145018102,-,AGAA,P376588_F,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150445908,150445908,T,-,P376588_F,RPRD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPRD2,NM_001297673:c.*1461delT;NM_001297674:c.*98delT;NM_015203:c.*98delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169079806,169079806,T,-,P376588_F,ATP1B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,174670103,174670103,-,T,P376588_F,RABGAP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RABGAP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237634211,237634212,AG,-,P376588_F,RYR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,242264092,242264092,A,-,P376588_F,PLD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,15491995,15491996,CA,-,P376588_F,NBAS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NBAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37447464,37447464,-,G,P376588_F,CEBPZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEBPZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37487342,37487342,A,-,P376588_F,PRKD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44566505,44566506,AG,-,P376588_F,PREPL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PREPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46851467,46851471,TTAAG,-,P376588_F,CRIPT,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,CRIPT,NM_014171:c.*101_*105delTTAAG,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74649920,74649920,-,A,P376588_F,WDR54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99614595,99614595,-,A,P376588_F,TSGA10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TSGA10,NM_001349012:c.*64_*65insT;NM_182911:c.*64_*65insT;NM_001349014:c.*64_*65insT;NM_025244:c.*64_*65insT;NM_001349013:c.*64_*65insT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101627343,101627343,-,A,P376588_F,RPL31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL31;TBC1D8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,135927545,135927545,A,-,P376588_F,RAB3GAP1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RAB3GAP1,NM_012233:c.*1194delA;NM_001172435:c.*1194delA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136148180,136148181,AC,-,P376588_F,ZRANB3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZRANB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,157352735,157352735,T,-,P376588_F,GPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171850598,171850598,A,-,P376588_F,TLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171862579,171862579,A,-,P376588_F,TLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,173431422,173431422,A,-,P376588_F,PDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198338420,198338420,A,-,P376588_F,COQ10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ10B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,37845264,37845264,-,A,P376588_F,ITGA9-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ITGA9-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65607592,65607592,-,CA,P376588_F,MAGI1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MAGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,176751871,176751871,A,-,P376588_F,TBL1XR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBL1XR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183639437,183639437,A,-,P376588_F,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,189713240,189713240,A,-,P376588_F,P3H2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,P3H2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195706577,195706577,-,AT,P376588_F,SDHAP1,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,SDHAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,8472786,8472786,A,-,P376588_F,TRMT44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRMT44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,56736795,56736798,TTTG,-,P376588_F,EXOC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EXOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,108622454,108622454,-,A,P376588_F,PAPSS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPSS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,110678820,110678820,A,-,P376588_F,CFI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,186569284,186569284,T,-,P376588_F,SORBS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORBS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1081113,1081133,AGAGAGAGAGACAGACAGACA,-,P376588_F,SLC12A7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC12A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74506698,74506698,-,A,P376588_F,ANKRD31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74882833,74882833,T,-,P376588_F,POLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,89821124,89821124,-,A,P376588_F,LYSMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LYSMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,125820277,125820277,T,-,P376588_F,GRAMD2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,125929008,125929008,-,ACAA,P376588_F,ALDH7A1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ALDH7A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,131312237,131312237,-,A,P376588_F,ACSL6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSL6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137506862,137506862,-,A,P376588_F,BRD8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRD8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178368380,178368380,C,-,P376588_F,ZNF454,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF454,NM_001323308:c.-1413del-;NM_001323309:c.-1413del-;NM_001323310:c.-1413del-;NM_001178089:c.-1413del-;NM_001178090:c.-1413del-;NM_182594:c.-1413del-;NM_001323307:c.-1413del-;NM_001323306:c.-1413del-,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179755072,179755072,T,-,P376588_F,GFPT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFPT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180424089,180424089,-,GA,P376588_F,BTNL3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,BTNL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10557727,10557727,T,-,P376588_F,GCNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26205347,26205347,T,-,P376588_F,HIST1H4E,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HIST1H4E,dist=98,NA,NA,NA,NA,NA,NA,NA,NA
chr6,125550032,125550032,-,T,P376588_F,TPD52L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPD52L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,158049352,158049352,T,-,P376588_F,ZDHHC14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,12620651,12620651,-,T,P376588_F,SCIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,26247985,26247985,T,-,P376588_F,CBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44839998,44839998,T,-,P376588_F,PPIA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPIA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48232531,48232531,T,-,P376588_F,ABCA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99312311,99312311,-,A,P376588_F,CYP3A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP3A7;CYP3A7-CYP3A51P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,112101907,112101907,-,T,P376588_F,IFRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,114303492,114303492,T,-,P376588_F,FOXP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138229909,138229910,GT,-,P376588_F,TRIM24,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRIM24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,6390095,6390095,-,A,P376588_F,ANGPT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT2;MCPH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,21848179,21848179,-,A,P376588_F,XPO7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPO7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144459345,144459346,TG,-,P376588_F,RHPN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RHPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68409713,68409713,-,ACAC,P376588_F,LINC00537,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,LINC00537,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69247462,69247465,AAAA,-,P376588_F,CBWD6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CBWD6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,98270325,98270326,GT,-,P376588_F,PTCH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116764884,116764885,CT,-,P376588_F,ZNF618,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF618,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135603109,135603110,CC,-,P376588_F,AK8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,69699479,69699480,AT,-,P376588_F,HERC4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HERC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,99018290,99018290,-,A,P376588_F,ARHGAP19-SLIT1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ARHGAP19-SLIT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,117856387,117856394,CACACGCA,-,P376588_F,GFRA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GFRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17591627,17591630,GCAG,-,P376588_F,OTOG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,58674691,58674692,TC,-,P376588_F,GLYATL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GLYATL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71634607,71634607,T,-,P376588_F,LOC100133315,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100133315,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107904513,107904513,T,-,P376588_F,CUL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,128642619,128642630,CTCTCAGGGAGC,-,P376588_F,FLI1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FLI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8807983,8807983,T,-,P376588_F,MFAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,16757497,16757497,-,A,P376588_F,LMO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,29586953,29586956,TCTC,-,P376588_F,OVCH1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,OVCH1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62790336,62790336,T,-,P376588_F,USP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120210819,120210819,A,-,P376588_F,CIT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123338888,123338888,A,-,P376588_F,HIP1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,42042874,42042875,CT,-,P376588_F,RGCC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RGCC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111091157,111091157,-,CTCCACA,P376588_F,COL4A2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31625995,31625995,A,-,P376588_F,HECTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51062267,51062268,TG,-,P376588_F,ATL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,102476130,102476130,-,T,P376588_F,DYNC1H1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1H1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41350768,41350768,-,GT,P376588_F,INO80,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,INO80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44002670,44002670,-,TG,P376588_F,STRCP1,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,STRCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45545880,45545880,-,A,P376588_F,LOC101928414,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928414,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,48717872,48717872,-,T,P376588_F,FBN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59359324,59359324,-,TC,P376588_F,RNF111,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,RNF111,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,70995331,70995331,-,A,P376588_F,UACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4851358,4851358,-,C,P376588_F,ROGDI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROGDI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57989158,57989158,C,-,P376588_F,CNGB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CNGB1,NM_001135639:c.*89delG,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66839541,66839541,A,-,P376588_F,NAE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75794715,75794715,T,-,P376588_F,CPHXL,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CPHXL;CNTNAP4,dist=34327;dist=516584,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81014685,81014685,A,-,P376588_F,CMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89757692,89757692,A,-,P376588_F,CDK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8064056,8064057,AC,-,P376588_F,VAMP2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,VAMP2,NM_001330125:c.*117_*116delGT;NM_014232:c.*117_*116delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15961099,15961099,A,-,P376588_F,NCOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17067285,17067285,A,-,P376588_F,MPRIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPRIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29206420,29206421,TG,-,P376588_F,ATAD5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATAD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30322880,30322880,-,A,P376588_F,SUZ12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUZ12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37651027,37651027,T,-,P376588_F,CDK12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38287584,38287584,-,A,P376588_F,MSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43310294,43310295,TG,-,P376588_F,FMNL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FMNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73596512,73596512,T,-,P376588_F,MYO15B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO15B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,48702708,48702709,TA,-,P376588_F,MEX3C,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MEX3C,NM_016626:c.*13_*12delTA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,57000584,57000584,A,-,P376588_F,LMAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,67809647,67809647,-,C,P376588_F,RTTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5223420,5223420,-,G,P376588_F,PTPRS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6436508,6436509,GA,-,P376588_F,SLC25A41,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,SLC25A41;SLC25A23,dist=2734;dist=3566,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15538857,15538857,C,-,P376588_F,WIZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WIZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15563387,15563387,G,-,P376588_F,RASAL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASAL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35758790,35758790,T,-,P376588_F,LSR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LSR,NM_015925:c.*28delT;NM_001260490:c.*28delT;NM_001260489:c.*28delT;NM_205835:c.*28delT;NM_205834:c.*28delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45186076,45186076,T,-,P376588_F,CEACAM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEACAM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45572248,45572248,A,-,P376588_F,CLASRP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASRP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47207217,47207217,-,A,P376588_F,PRKD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56220431,56220431,T,-,P376588_F,NLRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3928845,3928845,A,-,P376588_F,RNF24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25304174,25304175,CA,-,P376588_F,ABHD12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABHD12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34858435,34858436,TT,-,P376588_F,AAR2,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,AAR2;DLGAP4,dist=13572;dist=35825,NA,NA,NA,NA,NA,NA,NA,NA
chr20,53092462,53092462,-,G,P376588_F,DOK5,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,DOK5,NM_018431:c.-24_-23insG;NM_001294161:c.-24_-23insG,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45642818,45642818,A,-,P376588_F,ICOSLG,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,ICOSLG,dist=60,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39427677,39427679,CCT,-,P376588_F,APOBEC3D,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,APOBEC3D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,72065965,72065967,AGG,-,P376588_F,DMRTC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DMRTC1;DMRTC1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,111000722,111000722,T,-,P376588_F,ALG13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129804249,129804250,AG,-,P376588_F,ENOX2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ENOX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,12398426,12398426,-,T,P376588_S,VPS13D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23660245,23660245,A,-,P376588_S,HNRNPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26601775,26601775,T,-,P376588_S,CEP85,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP85,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,112958899,112958899,A,-,P376588_S,CTTNBP2NL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTTNBP2NL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145018102,145018102,-,AGAA,P376588_S,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,149764048,149764048,-,A,P376588_S,HIST2H3DP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HIST2H3DP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153657799,153657799,-,A,P376588_S,NPR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160719410,160719412,TTA,-,P376588_S,SLAMF7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLAMF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169447008,169447008,-,A,P376588_S,SLC19A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC19A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,202894346,202894346,-,A,P376588_S,KLHL12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,222823739,222823739,T,-,P376588_S,MIA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11332239,11332239,T,-,P376588_S,ROCK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,15491995,15491996,CA,-,P376588_S,NBAS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NBAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39177925,39177925,-,T,P376588_S,ARHGEF33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99614596,99614596,A,-,P376588_S,TSGA10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TSGA10,NM_001349012:c.*64delT;NM_182911:c.*64delT;NM_001349014:c.*64delT;NM_025244:c.*64delT;NM_001349013:c.*64delT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,142888355,142888357,CGG,-,P376588_S,LRP1B,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,LRP1B,NM_018557:c.-57_-59delCCG,NA,NA,NA,NA,NA,NA,NA,NA
chr2,166758448,166758448,A,-,P376588_S,TTC21B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC21B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198338420,198338420,A,-,P376588_S,COQ10B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ10B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209201529,209201530,AT,-,P376588_S,PIKFYVE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIKFYVE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,31667425,31667425,-,T,P376588_S,STT3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STT3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47603926,47603926,-,T,P376588_S,CSPG5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CSPG5,NM_006574:c.*163_*164insA;NM_001206944:c.*273_*274insA;NM_001206942:c.*163_*164insA;NM_001206945:c.*163_*164insA;NM_001206943:c.*163_*164insA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57287891,57287891,T,-,P376588_S,APPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,78695354,78695354,A,-,P376588_S,ROBO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113667549,113667550,AG,-,P376588_S,ZDHHC23,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,ZDHHC23,NM_001320468:c.-101_-100del-;NM_001320466:c.-101_-100del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122354249,122354249,-,T,P376588_S,PARP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139081417,139081418,TA,-,P376588_S,COPB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COPB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,155521964,155521964,-,A,P376588_S,C3orf33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3orf33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,27009063,27009063,T,-,P376588_S,STIM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48381691,48381691,T,-,P376588_S,SLAIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLAIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,55130162,55130162,T,-,P376588_S,PDGFRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDGFRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57678104,57678104,T,-,P376588_S,SPINK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPINK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,86491532,86491532,-,TTC,P376588_S,ARHGAP24,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ARHGAP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,86491545,86491545,-,TC,P376588_S,ARHGAP24,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ARHGAP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,88048164,88048164,T,-,P376588_S,AFF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,107037539,107037539,A,-,P376588_S,TBCK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,110678820,110678820,A,-,P376588_S,CFI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,186577595,186577595,T,-,P376588_S,SORBS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORBS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1081113,1081133,AGAGAGAGAGACAGACAGACA,-,P376588_S,SLC12A7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC12A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32000451,32000452,CA,-,P376588_S,PDZD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDZD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,114605498,114605498,-,A,P376588_S,CCDC112,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC112,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,133707248,133707248,T,-,P376588_S,CDKL3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CDKL3;UBE2B,dist=12,NA,NA,NA,NA,NA,NA,NA,NA
chr5,134696514,134696514,A,-,P376588_S,H2AFY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,H2AFY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,143853701,143853701,A,-,P376588_S,KCTD16,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KCTD16,NM_020768:c.*24delA;NM_001370486:c.*24delA;NM_001370487:c.*24delA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26205347,26205347,T,-,P376588_S,HIST1H4E,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HIST1H4E,dist=98,NA,NA,NA,NA,NA,NA,NA,NA
chr6,32610914,32610914,-,T,P376588_S,HLA-DQA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HLA-DQA1,NM_002122:c.*206_*207insT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33643203,33643203,A,-,P376588_S,ITPR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55924215,55924215,C,-,P376588_S,COL21A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL21A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,100006296,100006296,A,-,P376588_S,CCNC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105614744,105614747,TGTG,-,P376588_S,BVES-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,BVES-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136847117,136847117,T,-,P376588_S,MAP7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MAP7,NM_001198608:c.-15delA;NM_001198611:c.-15delA;NM_001198609:c.-15delA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,146207502,146207502,-,T,P376588_S,LOC100507557,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100507557,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,159669939,159669940,GT,-,P376588_S,FNDC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FNDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,7400411,7400412,AC,-,P376588_S,COL28A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL28A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,24746885,24746885,-,A,P376588_S,GSDME,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSDME,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92875595,92875596,AC,-,P376588_S,VPS50,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VPS50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,96639506,96639507,CT,-,P376588_S,DLX6-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,DLX6-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99036577,99036579,GGC,-,P376588_S,CPSF4,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CPSF4,NM_001081559:c.-129_-127del-;NM_001318160:c.-129_-127del-;NM_001318161:c.-129_-127del-;NM_006693:c.-129_-127del-,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100416331,100416331,-,T,P376588_S,EPHB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155503844,155503844,-,T,P376588_S,RBM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17504627,17504627,A,-,P376588_S,MTUS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTUS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,24253183,24253184,AC,-,P376588_S,LOC101929294,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC101929294,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42026641,42026641,A,-,P376588_S,AP3M2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,AP3M2,NM_001134296:c.*62delA;NM_006803:c.*62delA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,109245907,109245907,A,-,P376588_S,EIF3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,4629042,4629042,A,-,P376588_S,SPATA6L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA6L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,19350927,19350927,T,-,P376588_S,DENND4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68409713,68409713,-,ACAC,P376588_S,LINC00537,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,LINC00537,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,117680473,117680473,-,T,P376588_S,TNFSF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNFSF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125438390,125438390,-,GT,P376588_S,OR1L3,3'Flank,NA,NA,NA,NA,INS,SNVindel,downstream,OR1L3,dist=7,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130253462,130253462,-,A,P376588_S,LRSAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRSAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131586559,131586560,GT,-,P376588_S,SPOUT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPOUT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,28822424,28822426,CCG,-,P376588_S,WAC,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,WAC,NM_016628:c.-85_-83del-;NM_100486:c.-85_-83del-,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33496677,33496677,A,-,P376588_S,NRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,78977053,78977053,A,-,P376588_S,KCNMA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNMA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115639506,115639506,G,-,P376588_S,NHLRC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NHLRC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,117856387,117856394,CACACGCA,-,P376588_S,GFRA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GFRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,129897532,129897532,A,-,P376588_S,MKI67,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MKI67,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1944050,1944050,-,CT,P376588_S,TNNT3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TNNT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,85419197,85419197,A,-,P376588_S,SYTL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYTL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,128642619,128642630,CTCTCAGGGAGC,-,P376588_S,FLI1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FLI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,16757497,16757497,-,A,P376588_S,LMO3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56096601,56096602,AC,-,P376588_S,ITGA7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITGA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,63543552,63543555,TCTC,-,P376588_S,AVPR1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AVPR1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,95966831,95966831,T,-,P376588_S,USP44,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,USP44;PGAM1P5,dist=21579;dist=76200,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110873128,110873128,T,-,P376588_S,ARPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49084992,49084992,A,-,P376588_S,RCBTB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCBTB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52718050,52718050,-,T,P376588_S,NEK3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NEK3,NM_001146099:exon10:c.876+1->A;NM_152720:exon10:c.876+1->A;NM_002498:exon10:c.876+1->A,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111091157,111091157,-,CTCCACA,P376588_S,COL4A2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,COL4A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23733978,23733978,-,T,P376588_S,RNF212B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF212B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,35779398,35779398,T,-,P376588_S,PSMA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23690415,23690415,-,TGTGC,P376588_S,GOLGA6L2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GOLGA6L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,35189054,35189057,AAAC,-,P376588_S,AQR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AQR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,48717872,48717872,-,T,P376588_S,FBN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52656722,52656722,-,A,P376588_S,MYO5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72611922,72611926,GGGCT,-,P376588_S,CELF6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CELF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2481055,2481055,T,-,P376588_S,CCNF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4523926,4523926,A,-,P376588_S,NMRAL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NMRAL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,8839996,8839996,A,-,P376588_S,ABAT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABAT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14700252,14700252,G,-,P376588_S,PARN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30674271,30674271,A,-,P376588_S,FBRS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBRS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56535194,56535194,A,-,P376588_S,BBS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,58208605,58208605,-,A,P376588_S,CSNK2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSNK2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71149516,71149516,-,CA,P376588_S,HYDIN,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8160873,8160873,-,A,P376588_S,PFAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8171691,8171691,A,-,P376588_S,PFAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17088887,17088887,-,TCCT,P376588_S,MPRIP,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,MPRIP,NM_001364716:c.*679_*680insTCCT;NM_015134:c.*679_*680insTCCT;NM_201274:c.*781_*782insTCCT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29206420,29206421,TG,-,P376588_S,ATAD5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATAD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37317770,37317770,T,-,P376588_S,ARL5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,33272292,33272293,AT,-,P376588_S,GALNT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GALNT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,57014813,57014813,A,-,P376588_S,LMAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,58289643,58289643,A,-,P376588_S,MC4R,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MC4R;CDH20,dist=249635;dist=711020,NA,NA,NA,NA,NA,NA,NA,NA
chr18,67809647,67809647,-,C,P376588_S,RTTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RTTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77013286,77013286,-,T,P376588_S,ATP9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4097203,4097203,-,A,P376588_S,MAP2K2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6951919,6951919,-,A,P376588_S,ADGRE4P,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,ADGRE4P,dist=592,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33439157,33439157,-,T,P376588_S,CEP89,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP89,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41758162,41758164,TGA,-,P376588_S,AXL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AXL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46122209,46122209,A,-,P376588_S,EML2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50665879,50665879,A,-,P376588_S,IZUMO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IZUMO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3928844,3928844,-,A,P376588_S,RNF24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,16362790,16362791,GA,-,P376588_S,KIF16B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KIF16B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33665776,33665776,A,-,P376588_S,TRPC4AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC4AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47720794,47720794,A,-,P376588_S,C21orf58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C21orf58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31946223,31946223,T,-,P376588_S,SFI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32548036,32548036,-,A,P376588_S,C22orf42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C22orf42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36717002,36717002,T,-,P376588_S,MYH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37326236,37326237,CT,-,P376588_S,CSF2RB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSF2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40813065,40813065,A,-,P376588_S,MRTFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRTFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15364159,15364159,T,-,P376588_S,PIR-FIGF,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PIR-FIGF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47519465,47519465,-,T,P376588_S,UXT-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,UXT-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53629650,53629651,AT,-,P376588_S,HUWE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54099867,54099867,T,-,P376588_S,FAM120C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM120C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118679316,118679316,A,-,P376588_S,CXorf56,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CXorf56,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,15448218,15448218,A,-,P376588_S,UTY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17198146,17198147,AC,-,P379846_F,LOC440570,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LOC440570,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,57476485,57476485,-,T,P379846_F,DAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103573518,103573519,TT,-,P379846_F,COL11A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115260850,115260850,-,A,P379846_F,CSDE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSDE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144828401,144828401,-,A,P379846_F,NBPF19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF19;NBPF20;NBPF8;NBPF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,148594259,148594259,-,T,P379846_F,NBPF25P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NBPF25P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176665103,176665104,TG,-,P379846_F,PAPPA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PAPPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204103834,204103836,GTG,-,P379846_F,ETNK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ETNK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204408021,204408021,-,CA,P379846_F,PIK3C2B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PIK3C2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237924231,237924231,T,-,P379846_F,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,15746048,15746049,TC,-,P379846_F,DDX1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DDX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27669365,27669365,-,T,P379846_F,IFT172,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT172,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32366960,32366960,T,-,P379846_F,SPAST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,33150279,33150279,A,-,P379846_F,LINC00486,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC00486,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37232731,37232731,-,A,P379846_F,HEATR5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46844374,46844376,CTG,-,P379846_F,CRIPT,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CRIPT,NM_014171:c.-48_-46del-,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69583874,69583874,T,-,P379846_F,GFPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GFPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,99936266,99936266,A,-,P379846_F,TXNDC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111397238,111397238,T,-,P379846_F,BUB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BUB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114647829,114647831,GCA,-,P379846_F,ACTR3-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ACTR3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,125204834,125204834,-,A,P379846_F,CNTNAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTNAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,141128255,141128256,CA,-,P379846_F,LRP1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LRP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,177188201,177188201,-,T,P379846_F,MTX2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,187505703,187505703,A,-,P379846_F,ITGAV,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAV,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,191775084,191775084,T,-,P379846_F,GLS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203676525,203676525,-,A,P379846_F,ICA1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ICA1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231334496,231334496,A,-,P379846_F,SP100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234668880,234668881,AT,-,P379846_F,UGT1A10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,25902280,25902280,-,CAGGGGAACTC,P379846_F,LINC00692,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LINC00692,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,31658679,31658679,T,-,P379846_F,STT3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STT3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52696310,52696310,-,A,P379846_F,PBRM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PBRM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52950373,52950373,T,-,P379846_F,SFMBT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFMBT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113656852,113656852,-,A,P379846_F,GRAMD1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,153995288,153995288,-,A,P379846_F,DHX36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,180645455,180645455,A,-,P379846_F,FXR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FXR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,37247172,37247172,T,-,P379846_F,NWD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NWD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39259362,39259362,-,T,P379846_F,WDR19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,56739013,56739013,-,T,P379846_F,EXOC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74301741,74301741,-,T,P379846_F,AFP,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,AFP,dist=197,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81884569,81884569,-,T,P379846_F,CFAP299,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP299,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100528155,100528155,A,-,P379846_F,MTTP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTTP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,101337123,101337123,-,A,P379846_F,EMCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,109546421,109546421,T,-,P379846_F,RPL34,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPL34,NM_001319236:c.*53delT;NM_001319232:c.*53delT;NM_001319235:c.*53delT;NM_001319234:c.*53delT,NA,NA,NA,NA,NA,NA,NA,NA
chr4,121631396,121631397,AC,-,P379846_F,PRDM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRDM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,128817806,128817806,-,T,P379846_F,PLK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,155470090,155470090,A,-,P379846_F,PLRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190878541,190878541,-,C,P379846_F,FRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4087347,4087348,TG,-,P379846_F,IRX1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,IRX1;LINC02114,dist=485830;dist=686246,NA,NA,NA,NA,NA,NA,NA,NA
chr5,21482789,21482791,CTT,-,P379846_F,GUSBP1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,GUSBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,31405765,31405765,-,A,P379846_F,DROSHA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DROSHA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68498811,68498811,T,-,P379846_F,CENPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,86629062,86629062,T,-,P379846_F,CCNH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNH;RASA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,130535204,130535204,-,T,P379846_F,LYRM7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LYRM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,132354898,132354898,A,-,P379846_F,ZCCHC10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZCCHC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,146752675,146752675,T,-,P379846_F,STK32A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK32A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,161529532,161529536,TTGTT,-,P379846_F,GABRG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GABRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,162884089,162884089,A,-,P379846_F,NUDCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDCD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167856944,167856944,A,-,P379846_F,WWC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17785981,17785981,-,A,P379846_F,KIF13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27730066,27730066,-,T,P379846_F,LOC100131289,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100131289,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27819724,27819724,T,-,P379846_F,HIST1H2BN,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HIST1H2BN;HIST1H2AL,dist=12836;dist=13383,NA,NA,NA,NA,NA,NA,NA,NA
chr6,49701364,49701364,T,-,P379846_F,CRISP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56504478,56504478,A,-,P379846_F,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56989203,56989204,CT,-,P379846_F,ZNF451-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ZNF451-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105300252,105300252,-,A,P379846_F,HACE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HACE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,123581789,123581789,-,A,P379846_F,TRDN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32997413,32997416,CGCC,-,P379846_F,FKBP9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FKBP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63720571,63720571,T,-,P379846_F,ZNF679,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF679,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75039257,75039260,AAAT,-,P379846_F,NSUN5P1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,NSUN5P1,dist=345,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94058410,94058410,-,T,P379846_F,COL1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107564537,107564538,GG,-,P379846_F,LAMB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LAMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,120596744,120596744,A,-,P379846_F,ING3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ING3,NM_198267:c.*519delA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138969521,138969521,T,-,P379846_F,UBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,20007094,20007094,-,CC,P379846_F,SLC18A1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SLC18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22471540,22471542,TGA,-,P379846_F,CCAR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCAR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27143659,27143659,-,A,P379846_F,TRIM35,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRIM35,NM_001304495:c.*1969_*1970insT;NM_001362813:c.*1969_*1970insT;NM_171982:c.*1407_*1408insT,NA,NA,NA,NA,NA,NA,NA,NA
chr8,30717576,30717576,A,-,P379846_F,TEX15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,72958692,72958692,A,-,P379846_F,MSC-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MSC-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,87738890,87738890,-,A,P379846_F,CNGB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNGB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100833442,100833442,A,-,P379846_F,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131172792,131172792,T,-,P379846_F,ASAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133184774,133184775,AC,-,P379846_F,KCNQ3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KCNQ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,14113179,14113179,-,A,P379846_F,NFIB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFIB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79256807,79256808,AC,-,P379846_F,PRUNE2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRUNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,103212779,103212779,T,-,P379846_F,MSANTD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSANTD3;MSANTD3-TMEFF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114694383,114694383,-,A,P379846_F,MIR4668,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR4668,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115060090,115060090,-,A,P379846_F,PTBP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130536196,130536196,-,A,P379846_F,SH2D3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2D3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33483838,33483839,AT,-,P379846_F,NRP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,62544391,62544391,-,A,P379846_F,CDK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70181968,70181968,-,T,P379846_F,DNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96117979,96117980,CA,-,P379846_F,NOC3L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NOC3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104449587,104449587,A,-,P379846_F,ARL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,112657653,112657653,-,T,P379846_F,PDCD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDCD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47203694,47203694,-,A,P379846_F,PACSIN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACSIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61043881,61043881,-,A,P379846_F,VWCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70171712,70171712,G,-,P379846_F,PPFIA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102056723,102056723,T,-,P379846_F,YAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,110128926,110128926,A,-,P379846_F,RDX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RDX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,993263,993266,GTTT,-,P379846_F,WNK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WNK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6840127,6840128,TC,-,P379846_F,COPS7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COPS7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15834240,15834242,TAA,-,P379846_F,EPS8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18690983,18690983,-,A,P379846_F,PIK3C2G,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3C2G,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21614142,21614146,AATTT,-,P379846_F,PYROXD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PYROXD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,25368594,25368594,T,-,P379846_F,KRAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,41949688,41949688,-,A,P379846_F,PDZRN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDZRN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88566359,88566359,T,-,P379846_F,TMTC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMTC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,91340253,91340253,T,-,P379846_F,LINC00615,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00615,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,97082669,97082669,-,T,P379846_F,CFAP54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104159529,104159529,-,GGCTGATCTCGAACTCC,P379846_F,STAB2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104515110,104515110,A,-,P379846_F,NFYB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123087820,123087820,A,-,P379846_F,KNTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124831062,124831062,-,G,P379846_F,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,22246458,22246459,TC,-,P379846_F,FGF9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FGF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21788458,21788458,T,-,P379846_F,RPGRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPGRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,62567095,62567095,T,-,P379846_F,SYT16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,67147718,67147718,A,-,P379846_F,GPHN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPHN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69861463,69861463,A,-,P379846_F,ERH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76420881,76420881,-,T,P379846_F,TTLL5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TTLL5,NM_015072:c.*92_*93insT,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77244485,77244485,T,-,P379846_F,VASH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VASH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,101311732,101311734,CCT,-,P379846_F,MEG3,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,MEG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22862067,22862067,-,T,P379846_F,TUBGCP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUBGCP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50189464,50189464,-,A,P379846_F,ATP8B4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP8B4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,57922170,57922170,T,-,P379846_F,GCOM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCOM1;MYZAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,67956841,67956841,A,-,P379846_F,MAP2K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91447824,91447824,T,-,P379846_F,MAN2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4414187,4414187,A,-,P379846_F,CORO7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CORO7;CORO7-PAM16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22134674,22134674,-,A,P379846_F,VWA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57724933,57724933,A,-,P379846_F,ADGRG3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADGRG3;DRC7,dist=1643;dist=3785,NA,NA,NA,NA,NA,NA,NA,NA
chr16,66886489,66886489,-,A,P379846_F,CA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70030142,70030142,-,A,P379846_F,PDXDC2P-NPIPB14P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PDXDC2P-NPIPB14P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89981382,89981383,TG,-,P379846_F,TCF25,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,TCF25;MC1R,dist=3595;dist=2904,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7990552,7990555,ACAG,-,P379846_F,ALOX12B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ALOX12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8166113,8166113,-,A,P379846_F,PFAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PFAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18498497,18498497,-,A,P379846_F,CCDC144B,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CCDC144B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19238703,19238703,T,-,P379846_F,B9D1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,B9D1;EPN2,NM_001321218:c.*2330delA;NM_001321219:c.*2295delA;NM_001368769:c.*2330delA;NM_148921:c.*1136delT;NM_014964:c.*1136delT;NM_001102664:c.*1136delT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36656812,36656812,-,T,P379846_F,ARHGAP23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40850553,40850554,GT,-,P379846_F,CNTNAP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CNTNAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,53124547,53124552,GTGTGT,-,P379846_F,STXBP4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STXBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65156546,65156546,A,-,P379846_F,HELZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HELZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78345568,78345569,AC,-,P379846_F,RNF213-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,RNF213-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,80787872,80787875,TTTG,-,P379846_F,ZNF750,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ZNF750,NM_024702:c.*146_*143delCAAA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21047278,21047278,-,A,P379846_F,RIOK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIOK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,31523145,31523145,A,-,P379846_F,NOL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9415597,9415597,-,A,P379846_F,ZNF699,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF699,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35502353,35502354,CT,-,P379846_F,GRAMD1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRAMD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44055917,44055918,AG,-,P379846_F,XRCC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,XRCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49123876,49123876,A,-,P379846_F,SPHK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPHK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55271765,55271766,GA,-,P379846_F,KIR2DL3,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,KIR2DL3;LOC101928804,dist=7261;dist=9108,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55605585,55605585,-,C,P379846_F,PPP1R12C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R12C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31294315,31294315,A,-,P379846_F,COMMD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMMD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10942644,10942644,A,-,P379846_F,TPTE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30433908,30433908,-,A,P379846_F,CCT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30051706,30051706,T,-,P379846_F,NF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118207477,118207479,GAG,-,P379846_F,LONRF3,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LONRF3;KIAA1210,dist=55159;dist=5119,NA,NA,NA,NA,NA,NA,NA,NA
chrX,153672551,153672553,CCG,-,P379846_F,FAM50A,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,FAM50A,NM_004699:c.-32_-30del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38356900,38356900,A,-,P379846_S,INPP5B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INPP5B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62271102,62271102,T,-,P379846_S,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160709035,160709035,G,-,P379846_S,SLAMF7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SLAMF7,NM_001282589:c.-57del-;NM_001282588:c.-57del-;NM_001282591:c.-57del-;NM_001282594:c.-57del-;NM_001282593:c.-57del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179402038,179402038,A,-,P379846_S,AXDND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AXDND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,200550244,200550244,A,-,P379846_S,KIF14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204103834,204103836,GTG,-,P379846_S,ETNK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ETNK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223727995,223727995,-,A,P379846_S,CAPN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229631436,229631436,A,-,P379846_S,NUP133,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP133,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,246711789,246711789,T,-,P379846_S,TFB2M,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TFB2M,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43768462,43768462,-,A,P379846_S,THADA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THADA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,175712339,175712339,A,-,P379846_S,CHN1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CHN1,NM_001206602:c.-480delT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179977605,179977605,A,-,P379846_S,SESTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SESTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231368879,231368879,A,-,P379846_S,SP100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239168597,239168597,T,-,P379846_S,PER2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PER2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,25902280,25902280,-,CAGGGGAACTC,P379846_S,LINC00692,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LINC00692,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,41268677,41268678,AT,-,P379846_S,CTNNB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTNNB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58120319,58120320,GT,-,P379846_S,FLNB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FLNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,66413507,66413507,A,-,P379846_S,SLC25A26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,86028295,86028295,T,-,P379846_S,CADM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CADM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,100945856,100945856,A,-,P379846_S,IMPG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMPG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113784008,113784008,T,-,P379846_S,QTRT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,QTRT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128292319,128292320,TC,-,P379846_S,LINC01565,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LINC01565,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132363753,132363753,A,-,P379846_S,NPHP3-ACAD11,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,NPHP3-ACAD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150276154,150276154,T,-,P379846_S,EIF2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,178957862,178957862,A,-,P379846_S,PIK3CA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PIK3CA,NM_006218:c.*5710delA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183677633,183677633,T,-,P379846_S,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,193130296,193130307,ACACACACACAC,-,P379846_S,ATP13A4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP13A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197702876,197702876,T,-,P379846_S,LMLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78815273,78815273,T,-,P379846_S,MRPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,106967841,106967841,-,A,P379846_S,TBCK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,155505988,155505988,A,-,P379846_S,FGA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,187113290,187113310,GAGAGAGGAGCCTGTCACCCT,-,P379846_S,CYP4V2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CYP4V2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,190878541,190878541,-,C,P379846_S,FRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,33649836,33649839,GCAG,-,P379846_S,ADAMTS12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ADAMTS12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,73153390,73153391,AC,-,P379846_S,ARHGEF28,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGEF28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,125950801,125950801,-,T,P379846_S,PHAX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,134305852,134305852,-,T,P379846_S,CATSPER3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPER3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137474285,137474285,T,-,P379846_S,NME5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NME5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,145888688,145888688,T,-,P379846_S,TCERG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCERG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,175925822,175925823,AC,-,P379846_S,FAF2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,175998039,175998039,A,-,P379846_S,CDHR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDHR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176759027,176759027,-,A,P379846_S,LMAN2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,LMAN2,NM_006816:c.*59_*60insT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,15546295,15546296,TT,-,P379846_S,DTNBP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DTNBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,49701364,49701364,T,-,P379846_S,CRISP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51917792,51917792,-,A,P379846_S,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109480681,109480681,-,T,P379846_S,CEP57L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP57L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,128150580,128150585,ATGCTC,-,P379846_S,THEMIS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,THEMIS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,149718578,149718578,A,-,P379846_S,TAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152647367,152647373,ATTACTA,-,P379846_S,SYNE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,167907702,167907703,AC,-,P379846_S,LOC105378127,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC105378127;LINC02538,dist=22689;dist=159819,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1914183,1914183,-,A,P379846_S,MAD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6230059,6230059,-,T,P379846_S,CYTH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYTH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,26247985,26247985,T,-,P379846_S,CBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,63720571,63720571,T,-,P379846_S,ZNF679,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF679,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92826772,92826772,-,T,P379846_S,HEPACAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPACAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102107619,102107622,GTGT,-,P379846_S,LRWD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LRWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129663647,129663647,T,-,P379846_S,ZC3HC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3HC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12423442,12423442,G,-,P379846_S,LOC100506990,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100506990,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22471540,22471542,TGA,-,P379846_S,CCAR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCAR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48696151,48696151,A,-,P379846_S,PRKDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133978710,133978713,TCTG,-,P379846_S,TG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145024881,145024884,TGGA,-,P379846_S,PLEC,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,PLEC,NM_201380:c.-7_-10delTCCA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,14113179,14113179,-,A,P379846_S,NFIB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFIB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,15210198,15210198,-,A,P379846_S,TTC39B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC39B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,88455652,88455652,-,T,P379846_S,LOC389765,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC389765,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138558056,138558056,C,-,P379846_S,LCN9,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,LCN9,dist=301,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15858807,15858807,-,A,P379846_S,MINDY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MINDY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,18803852,18803852,A,-,P379846_S,CACNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115963126,115963126,-,T,P379846_S,TDRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135473008,135473010,CCA,-,P379846_S,FRG2B,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,FRG2B;NONE,dist=32709;dist=NONE,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4731638,4731645,TGTTTATC,-,P379846_S,OR51E2,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,OR51E2;OR51F1,dist=12555;dist=58564,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61184130,61184130,T,-,P379846_S,CPSF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,75046001,75046001,A,-,P379846_S,ARRB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARRB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77589944,77589945,TG,-,P379846_S,INTS4,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,INTS4,NM_033547:c.*51_*50delCA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108119616,108119616,A,-,P379846_S,ATM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6567542,6567542,A,-,P379846_S,TAPBPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAPBPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8692328,8692328,A,-,P379846_S,CLEC4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40912954,40912954,A,-,P379846_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56551156,56551156,G,-,P379846_S,MYL6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYL6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,75601786,75601786,G,-,P379846_S,KCNC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,107360877,107360877,T,-,P379846_S,TMEM263,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM263,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,117603137,117603137,A,-,P379846_S,FBXO21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,120078474,120078475,TC,-,P379846_S,TMEM233,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMEM233,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124831062,124831062,-,G,P379846_S,NCOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,32905219,32905219,-,T,P379846_S,BRCA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRCA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,35482593,35482604,TTTGTTTCTTTC,-,P379846_S,LINC00457,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC00457;NBEA,dist=267771;dist=33820,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95131529,95131530,CT,-,P379846_S,DCT,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,DCT,NM_001922:c.-20_-21delAG;NM_001129889:c.-20_-21delAG,NA,NA,NA,NA,NA,NA,NA,NA
chr13,115039246,115039246,-,A,P379846_S,MIR4502,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4502,dist=57,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20815169,20815169,-,T,P379846_S,PARP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,62567095,62567095,T,-,P379846_S,SYT16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYT16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65507322,65507322,-,T,P379846_S,CHURC1-FNTB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHURC1-FNTB;FNTB;MAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,68937345,68937346,AG,-,P379846_S,RAD51B,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,RAD51B,NM_001321819:c.*95_*96delAG,NA,NA,NA,NA,NA,NA,NA,NA
chr14,90499390,90499390,T,-,P379846_S,TDP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92126444,92126447,TCTC,-,P379846_S,CATSPERB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CATSPERB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92604780,92604780,-,T,P379846_S,CPSF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93043862,93043864,GCA,-,P379846_S,RIN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104380974,104380974,-,A,P379846_S,ATP5MPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5MPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,35207410,35207410,-,T,P379846_S,AQR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AQR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50791072,50791072,-,T,P379846_S,USP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,52506937,52506937,-,T,P379846_S,MYO5C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO5C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30680974,30680974,G,-,P379846_S,FBRS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FBRS,NM_001105079:c.*8delG,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30983081,30983082,GA,-,P379846_S,SETD1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SETD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57724933,57724933,A,-,P379846_S,ADGRG3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ADGRG3;DRC7,dist=1643;dist=3785,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67409042,67409042,A,-,P379846_S,LRRC36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,72124175,72124175,T,-,P379846_S,TXNL4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNL4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3968150,3968150,A,-,P379846_S,ZZEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZZEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,12909386,12909386,-,A,P379846_S,ELAC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,53124547,53124552,GTGTGT,-,P379846_S,STXBP4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STXBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56688727,56688727,A,-,P379846_S,TEX14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,71203231,71203231,-,A,P379846_S,COG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,11622352,11622353,CT,-,P379846_S,SLC35G4,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,SLC35G4;MIR7153,dist=11741;dist=32531,NA,NA,NA,NA,NA,NA,NA,NA
chr18,43705513,43705513,A,-,P379846_S,HAUS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAUS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3772029,3772029,G,-,P379846_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5594280,5594280,-,A,P379846_S,SAFB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAFB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8402644,8402645,CA,-,P379846_S,KANK3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KANK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12253772,12253772,A,-,P379846_S,ZNF625-ZNF20,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF625-ZNF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45647096,45647096,T,-,P379846_S,PPP1R37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51919435,51919437,AAA,-,P379846_S,LOC100129083,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LOC100129083;SIGLEC10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55815387,55815387,T,-,P379846_S,BRSK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRSK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3172618,3172618,-,ACAC,P379846_S,DDRGK1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DDRGK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57234598,57234601,TGTC,-,P379846_S,STX16-NPEPL1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,STX16-NPEPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34947889,34947889,T,-,P379846_S,SON,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SON,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,27019178,27019178,T,-,P379846_S,CRYBA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYBA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17026022,17026024,GGC,-,P388862_F,ESPNP,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,ESPNP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40349336,40349336,T,-,P388862_F,TRIT1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TRIT1,dist=153,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45212980,45212980,A,-,P388862_F,KIF2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852509,144852513,AACAT,-,P388862_F,LOC100996724,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852532,144852532,-,CCC,P388862_F,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150230423,150230424,CT,-,P388862_F,CA14,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CA14,NM_012113:c.-101_-100del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151518480,151518480,T,-,P388862_F,TUFT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156902574,156902574,-,T,P388862_F,LRRC71,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC71,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176103054,176103055,AC,-,P388862_F,COP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182368631,182368631,A,-,P388862_F,TEDDM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TEDDM1,NM_172000:c.*168delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183498420,183498423,TCAG,-,P388862_F,SMG7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SMG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,197150256,197150256,-,A,P388862_F,ZBTB41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZBTB41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,198691479,198691480,AT,-,P388862_F,PTPRC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,203053323,203053323,-,GT,P388862_F,MYOPARR,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,MYOPARR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205589976,205589976,A,-,P388862_F,ELK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225707272,225707272,A,-,P388862_F,ENAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,4672835,4672836,TG,-,P388862_F,LOC105373394,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC105373394;LINC01249,dist=649965;dist=2972,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27708008,27708008,A,-,P388862_F,IFT172,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IFT172,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32735820,32735820,A,-,P388862_F,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37487308,37487308,A,-,P388862_F,PRKD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,43793964,43793964,A,-,P388862_F,THADA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THADA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,108507150,108507150,-,T,P388862_F,RGPD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111887686,111887686,-,T,P388862_F,BCL2L11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCL2L11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120734737,120734737,-,A,P388862_F,PTPN4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTPN4,NM_002830:c.*91_*92insA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,125232684,125232684,T,-,P388862_F,CNTNAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTNAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,157352735,157352735,T,-,P388862_F,GPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,192011485,192011485,-,A,P388862_F,STAT4,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,STAT4,NM_001243835:exon3:c.129-2->T;NM_003151:exon3:c.129-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201950166,201950166,-,T,P388862_F,NDUFB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233752933,233752934,CA,-,P388862_F,NGEF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NGEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239168597,239168597,T,-,P388862_F,PER2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PER2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,16636094,16636094,A,-,P388862_F,DAZL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAZL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52820856,52820859,GAAT,-,P388862_F,ITIH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113383514,113383515,AC,-,P388862_F,USF3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,USF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121515940,121515940,-,T,P388862_F,IQCB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130653387,130653387,T,-,P388862_F,ATP2C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169998241,169998241,T,-,P388862_F,PRKCI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183677636,183677636,A,-,P388862_F,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,188242334,188242334,A,-,P388862_F,LPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68202022,68202025,AAGA,-,P388862_F,MIR1269A,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,MIR1269A;LOC101927237,dist=1059376;dist=80998,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81123014,81123015,GT,-,P388862_F,PRDM8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRDM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81207393,81207393,-,T,P388862_F,FGF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,108931132,108931132,-,A,P388862_F,HADH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HADH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,121631362,121631363,AC,-,P388862_F,PRDM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRDM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,164440462,164440462,T,-,P388862_F,TMA16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMA16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4095515,4095516,AC,-,P388862_F,IRX1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,IRX1;LINC02114,dist=493998;dist=678078,NA,NA,NA,NA,NA,NA,NA,NA
chr5,57755014,57755014,A,-,P388862_F,PLK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79410477,79410477,-,A,P388862_F,SERINC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79499076,79499076,-,ATAT,P388862_F,SERINC5,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SERINC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,87502324,87502324,-,A,P388862_F,TMEM161B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM161B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,90046304,90046304,A,-,P388862_F,ADGRV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,151170421,151170423,ATT,-,P388862_F,G3BP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,G3BP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,151180020,151180020,A,-,P388862_F,G3BP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,G3BP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,159831736,159831736,-,A,P388862_F,SLU7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLU7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17898424,17898424,A,-,P388862_F,KIF13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33408466,33408467,TC,-,P388862_F,SYNGAP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYNGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41057862,41057862,-,T,P388862_F,NFYA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYA;OARD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,52130246,52130246,A,-,P388862_F,MCM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88255204,88255204,A,-,P388862_F,RARS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RARS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,99825475,99825475,-,A,P388862_F,COQ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135424156,135424156,C,-,P388862_F,HBS1L,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HBS1L;MYB,dist=48196;dist=78290,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144758648,144758648,T,-,P388862_F,UTRN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2434595,2434597,TTT,-,P388862_F,EIF3B,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,EIF3B;CHST12,dist=14218;dist=8649,NA,NA,NA,NA,NA,NA,NA,NA
chr7,11021972,11021972,-,T,P388862_F,PHF14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,62708649,62708649,G,-,P388862_F,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;ZNF733P,dist=NONE;dist=43021,NA,NA,NA,NA,NA,NA,NA,NA
chr7,66747795,66747795,T,-,P388862_F,PMS2P4,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PMS2P4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100212386,100212386,-,A,P388862_F,MOSPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOSPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102107615,102107615,T,-,P388862_F,LRWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,102961278,102961279,TT,-,P388862_F,DNAJC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNAJC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123101323,123101324,CA,-,P388862_F,IQUB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IQUB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150919376,150919376,T,-,P388862_F,ABCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCF2;LOC114483834,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,12584629,12584629,T,-,P388862_F,LONRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LONRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48962335,48962335,-,T,P388862_F,UBE2V2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2V2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67813590,67813594,ATTCA,-,P388862_F,MCMDC2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MCMDC2,NM_001136161:c.*3_*7delATTCA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68024470,68024470,T,-,P388862_F,CSPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68139326,68139326,-,T,P388862_F,ARFGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74171757,74171757,-,A,P388862_F,C8orf89,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,C8orf89,dist=20,NA,NA,NA,NA,NA,NA,NA,NA
chr8,89340035,89340036,AC,-,P388862_F,MMP16,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MMP16,dist=323,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121382676,121382678,ACC,-,P388862_F,COL14A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL14A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,4849374,4849374,-,T,P388862_F,RCL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RCL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,86292939,86292939,T,-,P388862_F,UBQLN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBQLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111936906,111936906,A,-,P388862_F,EPB41L4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125655309,125655309,A,-,P388862_F,RC3H2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RC3H2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27366638,27366640,AAG,-,P388862_F,ANKRD26,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANKRD26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,118466663,118466668,CGCACA,-,P388862_F,HSPA12A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HSPA12A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,320390,320391,CA,-,P388862_F,IFITM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IFITM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,22248832,22248832,-,T,P388862_F,ANO5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANO5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49056627,49056627,-,T,P388862_F,TRIM49B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM49B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62745012,62745012,-,T,P388862_F,SLC22A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63673604,63673605,TG,-,P388862_F,MARK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MARK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65273192,65273195,TGCC,-,P388862_F,MALAT1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,MALAT1;TALAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,2939771,2939774,CTCC,-,P388862_F,NRIP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49316932,49316932,A,-,P388862_F,FKBP11,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FKBP11,NM_001143782:c.*403delT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52204039,52204039,A,-,P388862_F,SCN8A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SCN8A,NM_014191:c.*2826delA;NM_001330260:c.*2826delA;NM_001369788:c.*2826delA;NM_001177984:c.*2826delA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,115110241,115110241,-,T,P388862_F,TBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52365408,52365408,A,-,P388862_F,DHRS12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,98634738,98634738,T,-,P388862_F,IPO5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPO5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,103266435,103266435,-,T,P388862_F,TPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53235542,53235542,-,T,P388862_F,STYX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STYX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69861462,69861462,-,A,P388862_F,ERH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88971026,88971026,A,-,P388862_F,PTPN21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,30003291,30003291,-,A,P388862_F,TJP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TJP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,35664407,35664407,A,-,P388862_F,DPH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44057632,44057632,-,T,P388862_F,PDIA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDIA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59974525,59974525,-,A,P388862_F,BNIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62265441,62265441,-,A,P388862_F,VPS13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62284087,62284087,-,T,P388862_F,VPS13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,68434211,68434211,-,T,P388862_F,PIAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74749155,74749155,T,-,P388862_F,UBL7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBL7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75311040,75311040,-,T,P388862_F,SCAMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91312651,91312651,T,-,P388862_F,BLM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BLM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11980878,11980878,-,T,P388862_F,GSPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15162144,15162144,A,-,P388862_F,PDXDC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDXDC1;RRN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67575137,67575138,TT,-,P388862_F,RIPOR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIPOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75538572,75538572,C,-,P388862_F,CHST6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CHST6;CHST5,dist=9233;dist=23856,NA,NA,NA,NA,NA,NA,NA,NA
chr16,83984638,83984638,-,CA,P388862_F,MLYCD,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,MLYCD;OSGIN1,dist=24002;dist=2207,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4443569,4443570,GT,-,P388862_F,MYBBP1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBBP1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5392101,5392101,T,-,P388862_F,MIS12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIS12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8194298,8194299,AG,-,P388862_F,SLC25A35,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC25A35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36720591,36720592,CC,-,P388862_F,SRCIN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SRCIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37561712,37561712,-,T,P388862_F,MED1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MED1,NM_004774:c.*2015_*2016insA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58289522,58289522,T,-,P388862_F,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,59974794,59974794,-,T,P388862_F,INTS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62968541,62968541,-,AC,P388862_F,AMZ2P1,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,AMZ2P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78937996,78937996,C,-,P388862_F,RPTOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3272865,3272865,T,-,P388862_F,MYL12B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYL12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19408832,19408832,T,-,P388862_F,MIR133A1HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR133A1HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,22931892,22931894,AGG,-,P388862_F,ZNF521,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF521,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,59925008,59925008,A,-,P388862_F,RELCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,876929,876929,A,-,P388862_F,MED16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2430955,2430958,AGGA,-,P388862_F,LMNB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LMNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2557011,2557012,AC,-,P388862_F,GNG7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GNG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2981345,2981345,-,A,P388862_F,TLE6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4267955,4267955,T,-,P388862_F,YJU2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YJU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12791350,12791350,T,-,P388862_F,DHPS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHPS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17881128,17881129,AC,-,P388862_F,FCHO1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FCHO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18794474,18794476,GGA,-,P388862_F,CRTC1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,CRTC1,dist=14,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53627492,53627492,A,-,P388862_F,ZNF415,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF415,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55317289,55317290,GA,-,P388862_F,KIR2DL4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KIR2DL4;LOC112268354,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55386627,55386627,A,-,P388862_F,FCAR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCAR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18429511,18429511,A,-,P388862_F,DZANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DZANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37275581,37275582,TC,-,P388862_F,ARHGAP40,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGAP40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43281643,43281643,-,C,P388862_F,PRDM15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43974156,43974156,-,T,P388862_F,SLC37A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC37A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40859206,40859207,GA,-,P388862_F,MRTFA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MRTFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45828092,45828092,A,-,P388862_F,RIBC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIBC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,2947191,2947193,TCC,-,P388862_F,ARSH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARSH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,14708814,14708815,TC,-,P388862_F,GLRA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GLRA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,35984670,35984670,T,-,P388862_F,CFAP47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,55248082,55248083,CT,-,P388862_F,PAGE5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,83403148,83403148,-,A,P388862_F,RPS6KA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS6KA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107415679,107415679,A,-,P388862_F,COL4A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,148035329,148035330,AC,-,P388862_F,AFF2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AFF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1323962,1323965,TCTA,-,P388862_S,CCNL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,36023660,36023660,T,-,P388862_S,NCDN,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NCDN,NM_014284:c.-132del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40661122,40661122,A,-,P388862_S,RLF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RLF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45270777,45270777,-,A,P388862_S,PLK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47842573,47842573,T,-,P388862_S,CMPK1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CMPK1,NM_001136140:c.*156delT;NM_001366135:c.*156delT;NM_016308:c.*156delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,59150940,59150940,-,A,P388862_S,MYSM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYSM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,64022709,64022709,A,-,P388862_S,EFCAB7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852509,144852513,AACAT,-,P388862_S,LOC100996724,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852532,144852532,-,CCC,P388862_S,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155691192,155691193,TA,-,P388862_S,DAP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176103054,176103055,AC,-,P388862_S,COP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183498420,183498423,TCAG,-,P388862_S,SMG7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SMG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225707272,225707272,A,-,P388862_S,ENAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,228481815,228481815,G,-,P388862_S,OBSCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OBSCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,247712252,247712253,GT,-,P388862_S,GCSAML,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GCSAML,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,4672835,4672836,TG,-,P388862_S,LOC105373394,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC105373394;LINC01249,dist=649965;dist=2972,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32735820,32735820,A,-,P388862_S,BIRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BIRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44566505,44566506,AG,-,P388862_S,PREPL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PREPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,108507150,108507150,-,T,P388862_S,RGPD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGPD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,109546729,109546748,GTACCTCCTTAGAAACACAT,-,P388862_S,EDAR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EDAR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,132905835,132905835,-,T,P388862_S,ANKRD30BL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD30BL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,187618916,187618916,-,T,P388862_S,FAM171B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM171B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209027776,209027776,-,T,P388862_S,CRYGA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYGA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,230653670,230653670,A,-,P388862_S,TRIP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,29781466,29781466,A,-,P388862_S,RBMS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBMS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49048535,49048535,T,-,P388862_S,WDR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108046984,108046984,A,-,P388862_S,HHLA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HHLA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170844016,170844016,-,A,P388862_S,TNIK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195953644,195953644,-,AA,P388862_S,SLC51A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SLC51A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196159011,196159011,G,-,P388862_S,UBXN7-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,UBXN7-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68202070,68202089,AAGAAAGCAAGAAAGCAAGA,-,P388862_S,MIR1269A,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,MIR1269A;LOC101927237,dist=1059424;dist=80934,NA,NA,NA,NA,NA,NA,NA,NA
chr4,72433482,72433482,T,-,P388862_S,SLC4A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,85553082,85553082,-,T,P388862_S,CDS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,95170783,95170783,-,T,P388862_S,SMARCAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100528155,100528155,A,-,P388862_S,MTTP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTTP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,106892254,106892254,-,T,P388862_S,NPNT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NPNT,NM_001184690:c.*2107_*2108insT;NM_001184693:c.*2107_*2108insT;NM_001033047:c.*2107_*2108insT;NM_001184691:c.*2107_*2108insT;NM_001184692:c.*2107_*2108insT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79410477,79410477,-,A,P388862_S,SERINC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERINC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,79499076,79499076,-,ATAT,P388862_S,SERINC5,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SERINC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,160973809,160973809,A,-,P388862_S,GABRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GABRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33408466,33408467,TC,-,P388862_S,SYNGAP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYNGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,72091184,72091184,-,T,P388862_S,MIR30C2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR30C2;MIR30A,dist=4450;dist=22070,NA,NA,NA,NA,NA,NA,NA,NA
chr6,86237952,86237952,T,-,P388862_S,SNX14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,99825475,99825475,-,A,P388862_S,COQ3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109221031,109221031,-,T,P388862_S,ARMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2434595,2434596,TT,-,P388862_S,EIF3B,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,EIF3B;CHST12,dist=14218;dist=8650,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2641059,2641059,-,T,P388862_S,IQCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,16745815,16745815,A,-,P388862_S,BZW2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BZW2,NM_001159767:c.*102delA;NM_014038:c.*102delA;NM_001362718:c.*102delA;NM_001362719:c.*102delA;NM_001362717:c.*102delA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,24329103,24329103,-,T,P388862_S,NPY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,62708649,62708649,G,-,P388862_S,NONE,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NONE;ZNF733P,dist=NONE;dist=43021,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92875595,92875596,AC,-,P388862_S,VPS50,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VPS50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99128680,99128680,A,-,P388862_S,ZKSCAN5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZKSCAN5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,127230918,127230918,T,-,P388862_S,ARF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129913519,129913519,-,C,P388862_S,CPA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138417538,138417538,-,A,P388862_S,ATP6V0A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V0A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142481656,142481656,-,TA,P388862_S,PRSS3P2,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,PRSS3P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150713740,150713740,T,-,P388862_S,ATG9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27690541,27690541,-,A,P388862_S,PBK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PBK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62555482,62555482,-,A,P388862_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67813590,67813594,ATTCA,-,P388862_S,MCMDC2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MCMDC2,NM_001136161:c.*3_*7delATTCA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,80677293,80677293,-,A,P388862_S,HEY1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,HEY1,NM_001040708:c.*129_*130insT;NM_001282851:c.*129_*130insT;NM_012258:c.*129_*130insT,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95750546,95750546,-,A,P388862_S,DPY19L4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPY19L4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,104922219,104922220,TA,-,P388862_S,RIMS2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,107704922,107704922,T,-,P388862_S,OXR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121502681,121502681,T,-,P388862_S,MTBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34623404,34623404,-,C,P388862_S,ARID3C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID3C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,69777495,69777495,A,-,P388862_S,LOC101928381,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC101928381;FOXD4L5,dist=19711;dist=398212,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130115760,130115760,-,T,P388862_S,GARNL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GARNL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6506209,6506209,-,A,P388862_S,PRKCQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,27366638,27366640,AAG,-,P388862_S,ANKRD26,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANKRD26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,49203360,49203361,AT,-,P388862_S,FAM25C,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,FAM25C,NM_001137548:c.*51_*50delAT,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70055968,70055968,A,-,P388862_S,PBLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PBLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,76360305,76360305,A,-,P388862_S,ADK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,112559689,112559689,-,T,P388862_S,RBM20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,112657653,112657653,-,T,P388862_S,PDCD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDCD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,112769710,112769710,T,-,P388862_S,SHOC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHOC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47436785,47436788,CGCT,-,P388862_S,SLC39A13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC39A13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49056628,49056628,T,-,P388862_S,TRIM49B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM49B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49076963,49076963,-,A,P388862_S,TRIM64C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM64C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60658058,60658058,A,-,P388862_S,PRPF19,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PRPF19,NM_014502:c.*580delT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,65273192,65273195,TGCC,-,P388862_S,MALAT1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,MALAT1;TALAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,102584465,102584465,-,T,P388862_S,MMP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7802404,7802404,T,-,P388862_S,APOBEC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APOBEC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48240601,48240601,A,-,P388862_S,VDR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VDR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,53874893,53874894,AT,-,P388862_S,MAP3K12,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MAP3K12;PCBP2,NM_006301:c.*73_*72delAT;NM_001193511:c.*73_*72delAT;NM_001128914:c.*1667_*1668delAT;NM_001128913:c.*1667_*1668delAT;NM_001128912:c.*1667_*1668delAT;NM_005016:c.*1667_*1668delAT;NM_001098620:c.*1667_*1668delAT;NM_031989:c.*1667_*1668delAT;NM_001128911:c.*1667_*1668delAT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66856582,66856582,A,-,P388862_S,GRIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,107360876,107360876,-,T,P388862_S,TMEM263,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM263,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121093634,121093635,GT,-,P388862_S,CABP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CABP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133764702,133764702,T,-,P388862_S,ZNF268,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF268,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24462174,24462174,T,-,P388862_S,MIPEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIPEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,42164635,42164635,T,-,P388862_S,VWA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114783402,114783402,A,-,P388862_S,RASA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20012948,20012948,A,-,P388862_S,POTEM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POTEM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31070939,31070939,A,-,P388862_S,G2E3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,G2E3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53217384,53217384,-,T,P388862_S,STYX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STYX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,64669477,64669477,-,T,P388862_S,SYNE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74969077,74969078,TC,-,P388862_S,LTBP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LTBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93021960,93021960,T,-,P388862_S,RIN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,33066403,33066409,AACATTT,-,P388862_S,FMN1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,FMN1,NM_001277313:c.*108_*102delAAATGTT;NM_001103184:c.*108_*102delAAATGTT,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34553226,34553226,A,-,P388862_S,SLC12A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40056232,40056232,-,T,P388862_S,FSIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,55841195,55841195,-,A,P388862_S,PYGO1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PYGO1,NM_001330326:exon2:c.50-2->T;NM_015617:exon2:c.50-2->T;NM_001367806:exon2:c.50-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,68434211,68434211,-,T,P388862_S,PIAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,69751057,69751057,-,T,P388862_S,RPLP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RPLP1;DRAIC,dist=2513;dist=103002,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102287990,102287990,T,-,P388862_S,LOC100128108,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LOC100128108,dist=917,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67165084,67165084,T,-,P388862_S,C16orf70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67670473,67670474,TA,-,P388862_S,CTCF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTCF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70390854,70390854,A,-,P388862_S,DDX19A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX19A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,75538572,75538572,C,-,P388862_S,CHST6,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CHST6;CHST5,dist=9233;dist=23856,NA,NA,NA,NA,NA,NA,NA,NA
chr17,5456526,5456526,-,T,P388862_S,NLRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8194298,8194299,AG,-,P388862_S,SLC25A35,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC25A35,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18334137,18334137,A,-,P388862_S,KRT17P2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,KRT17P2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34147534,34147534,T,-,P388862_S,TAF15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37901803,37901804,TG,-,P388862_S,GRB7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRB7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40881034,40881034,A,-,P388862_S,EZH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EZH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,876929,876929,A,-,P388862_S,MED16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2981345,2981345,-,A,P388862_S,TLE6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4452146,4452146,A,-,P388862_S,UBXN6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBXN6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14526884,14526884,A,-,P388862_S,DDX39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16283853,16283854,AC,-,P388862_S,CIB3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CIB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38980088,38980090,GCT,-,P388862_S,RYR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47658471,47658471,-,T,P388862_S,SAE1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SAE1,NM_005500:exon5:c.627+1->T;NM_001145714:exon5:c.627+1->T;NM_001145713:exon5:c.627+1->T,NA,NA,NA,NA,NA,NA,NA,NA
chr19,51214440,51214443,TGGA,-,P388862_S,SHANK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SHANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29625924,29625924,-,CTT,P388862_S,FRG1BP,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,56226910,56226910,-,T,P388862_S,PMEPA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PMEPA1,NM_199171:c.*198_*199insA;NM_001255976:c.*198_*199insA;NM_020182:c.*198_*199insA;NM_199169:c.*198_*199insA;NM_199170:c.*198_*199insA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61910551,61910551,-,T,P388862_S,ARFGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARFGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17181078,17181078,-,T,P388862_S,USP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,19190816,19190818,AAG,-,P388862_S,C21orf91,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C21orf91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43274659,43274659,G,-,P388862_S,PRDM15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRDM15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,18102059,18102059,-,A,P388862_S,ATP6V1E1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V1E1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,39713639,39713639,A,-,P388862_S,RPL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40813064,40813064,-,A,P388862_S,MRTFA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRTFA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41303424,41303424,-,A,P388862_S,XPNPEP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPNPEP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,71856304,71856305,AT,-,P388862_S,PHKA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHKA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,76855054,76855057,AAAC,-,P388862_S,ATRX,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATRX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1654066,1654068,GCG,-,P395201_F,CDK11B,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CDK11B,NM_033489:c.-31_-33delCGC,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2342423,2342425,TCA,-,P395201_F,PEX10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PEX10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,42647537,42647538,CA,-,P395201_F,FOXJ3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FOXJ3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,91851400,91851400,A,-,P395201_F,HFM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HFM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94643144,94643144,T,-,P395201_F,ARHGAP29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173881164,173881164,A,-,P395201_F,SERPINC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,32117218,32117218,A,-,P395201_F,MEMO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEMO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74649920,74649920,-,AA,P395201_F,WDR54,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,WDR54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,127952825,127952825,G,-,P395201_F,CYP27C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP27C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,170393895,170393895,T,-,P395201_F,FASTKD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FASTKD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,189434711,189434711,-,A,P395201_F,GULP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GULP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201362424,201362424,T,-,P395201_F,KCTD18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCTD18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203165101,203165101,-,T,P395201_F,NOP58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOP58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,238419127,238419128,TG,-,P395201_F,MLPH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MLPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10081677,10081677,A,-,P395201_F,FANCD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15258913,15258913,-,T,P395201_F,CAPN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15838122,15838125,ACAA,-,P395201_F,ANKRD28,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,ANKRD28,NM_001349277:c.-94_-97delTTGT;NM_001349278:c.-94_-97delTTGT;NM_001349284:c.-94_-97delTTGT;NM_001349285:c.-94_-97delTTGT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,42741937,42741940,TGTG,-,P395201_F,HHATL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HHATL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,45042935,45042935,A,-,P395201_F,EXOSC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,174935843,174935843,T,-,P395201_F,NAALADL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAALADL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179076916,179076916,T,-,P395201_F,MFN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,17964528,17964528,-,A,P395201_F,LCORL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCORL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48596037,48596037,A,-,P395201_F,FRYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,82064125,82064126,AC,-,P395201_F,PRKG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRKG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,129794146,129794147,TG,-,P395201_F,JADE1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,JADE1,NM_001287437:c.*729_*730delTG;NM_199320:c.*729_*730delTG;NM_001287439:c.*729_*730delTG;NM_001287440:c.*729_*730delTG;NM_001287442:c.*729_*730delTG;NM_001287443:c.*729_*730delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr5,7817259,7817259,A,-,P395201_F,ADCY2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,95998755,95998758,GAGT,-,P395201_F,CAST,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CAST,NM_001330628:c.-86_-83del-;NM_001330629:c.-86_-83del-,NA,NA,NA,NA,NA,NA,NA,NA
chr6,53363785,53363785,-,A,P395201_F,GCLC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCLC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,142759335,142759335,-,T,P395201_F,ADGRG6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75573272,75573272,A,-,P395201_F,POR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99226797,99226799,CTC,-,P395201_F,ZSCAN25,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZSCAN25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,28956834,28956834,-,A,P395201_F,KIF13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67963607,67963607,-,A,P395201_F,COPS5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,108315600,108315600,A,-,P395201_F,ANGPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,109694520,109694521,TG,-,P395201_F,ZNF462,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF462,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,28822575,28822587,GGGCGGCGGCGGG,-,P395201_F,WAC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WAC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,72043218,72043219,CA,-,P395201_F,NPFFR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NPFFR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95518482,95518485,TGTT,-,P395201_F,LGI1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,116605739,116605739,A,-,P395201_F,FAM160B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM160B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,117856391,117856392,CG,-,P395201_F,GFRA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GFRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124183696,124183696,-,TG,P395201_F,PLEKHA1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PLEKHA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,10517464,10517464,T,-,P395201_F,AMPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6840127,6840128,TC,-,P395201_F,COPS7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COPS7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,31435609,31435609,T,-,P395201_F,SINHCAF,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SINHCAF,NM_021238:c.*37delA;NM_001135812:c.*37delA;NM_001135811:c.*37delA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49863326,49863327,AA,-,P395201_F,SPATS2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPATS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50188388,50188388,-,C,P395201_F,NCKAP5L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP5L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64710413,64710413,-,A,P395201_F,C12orf56,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf56,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81648624,81648624,T,-,P395201_F,ACSS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104131385,104131385,T,-,P395201_F,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104408133,104408133,A,-,P395201_F,GLT8D2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLT8D2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111351964,111351965,AC,-,P395201_F,MYL2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,115117664,115117664,-,C,P395201_F,TBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49684437,49684437,A,-,P395201_F,FNDC3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,73482850,73482850,-,T,P395201_F,PIBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23396092,23396092,-,A,P395201_F,PRMT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,54416700,54416701,GT,-,P395201_F,BMP4,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,BMP4,NM_001347912:c.*50_*49delAC;NM_130851:c.*50_*49delAC;NM_130850:c.*50_*49delAC;NM_001347916:c.*50_*49delAC;NM_001347917:c.*50_*49delAC;NM_001202:c.*50_*49delAC;NM_001347915:c.*50_*49delAC;NM_001347914:c.*50_*49delAC;NM_001347913:c.*50_*49delAC,NA,NA,NA,NA,NA,NA,NA,NA
chr14,94567054,94567062,TTGTTGTTG,-,P395201_F,IFI27L1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IFI27L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96998643,96998643,G,-,P395201_F,PAPOLA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PAPOLA,NM_001252007:c.*610delG,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91512982,91512982,-,A,P395201_F,PRC1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PRC1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,102029475,102029475,-,G,P395201_F,PCSK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCSK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,778097,778100,CCCG,-,P395201_F,HAGHL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HAGHL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21652762,21652762,T,-,P395201_F,IGSF6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IGSF6,NM_005849:c.*93delA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,28905339,28905339,G,-,P395201_F,ATP2A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9801300,9801301,TG,-,P395201_F,RCVRN,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,RCVRN,NM_002903:c.*112_*111delCA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17716448,17716448,T,-,P395201_F,SREBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SREBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18005013,18005017,CCTCA,-,P395201_F,DRG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26915703,26915705,TTG,-,P395201_F,SPAG5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPAG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33445416,33445416,-,A,P395201_F,RAD51L3-RFFL,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,RAD51L3-RFFL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56233616,56233616,T,-,P395201_F,MSX2P1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MSX2P1;OR4D1,dist=704;dist=169,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57759977,57759977,T,-,P395201_F,CLTC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58289532,58289532,-,A,P395201_F,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,69334503,69334503,T,-,P395201_F,CASC17,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CASC17;ROCR,dist=136183;dist=683489,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29796831,29796831,-,A,P395201_F,MEP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,60799,60799,C,-,P395201_F,WASH5P,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,WASH5P,dist=152,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3772029,3772029,G,-,P395201_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6898249,6898249,T,-,P395201_F,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7184652,7184653,GA,-,P395201_F,INSR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INSR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8601052,8601053,TC,-,P395201_F,MYO1F,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYO1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10099510,10099510,A,-,P395201_F,COL5A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL5A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14765713,14765713,-,T,P395201_F,ADGRE3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,34819146,34819146,A,-,P395201_F,KIAA0355,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0355,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53754734,53754734,-,A,P395201_F,ZNF677,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF677,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53905127,53905127,T,-,P395201_F,ZNF765,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF765;ZNF765-ZNF761,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,23028374,23028391,CAGGCTCCTGGACGGAGC,-,P395201_F,THBD,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,THBD,NM_000361:c.*40_*23delGCTCCGTCCAGGAGCCTG,NA,NA,NA,NA,NA,NA,NA,NA
chr20,26072131,26072132,TC,-,P395201_F,FAM182A,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,FAM182A;NCOR1P1,dist=4578;dist=11920,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30444331,30444331,-,A,P395201_F,CCT8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,33312540,33312540,T,-,P395201_F,HUNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HUNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,2699899,2699899,T,-,P395201_F,XG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1654066,1654068,GCG,-,P395201_S,CDK11B,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CDK11B,NM_033489:c.-31_-33delCGC,NA,NA,NA,NA,NA,NA,NA,NA
chr1,2342423,2342425,TCA,-,P395201_S,PEX10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PEX10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10435442,10435444,TTG,-,P395201_S,KIF1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KIF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28535045,28535045,A,-,P395201_S,DNAJC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94643144,94643144,T,-,P395201_S,ARHGAP29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100346612,100346614,TTG,-,P395201_S,AGL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,119428336,119428336,-,CA,P395201_S,TBX15,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TBX15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186120312,186120312,-,T,P395201_S,HMCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,44942370,44942370,T,-,P395201_S,CAMKMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMKMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85848763,85848763,A,-,P395201_S,USP39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,113496397,113496397,A,-,P395201_S,CKAP2L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CKAP2L,NM_001304361:c.*3delT;NM_152515:c.*3delT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118850591,118850591,-,GAG,P395201_S,INSIG2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,122260906,122260906,-,A,P395201_S,CLASP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,230652431,230652431,A,-,P395201_S,TRIP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,1445211,1445211,-,A,P395201_S,CNTN6,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CNTN6,NM_001349357:c.*109_*110insA;NM_001289080:c.*109_*110insA;NM_001349362:c.*109_*110insA;NM_014461:c.*109_*110insA;NM_001349361:c.*109_*110insA;NM_001349360:c.*109_*110insA;NM_001349353:c.*109_*110insA;NM_001349352:c.*109_*110insA;NM_001349350:c.*109_*110insA;NM_001349351:c.*109_*110insA;NM_001289081:c.*109_*110insA;NM_001349355:c.*109_*110insA;NM_001349354:c.*109_*110insA;NM_001349356:c.*109_*110insA;NM_001349359:c.*109_*110insA;NM_001349358:c.*109_*110insA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49828025,49828025,A,-,P395201_S,CDHR4,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,CDHR4,dist=142,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51976899,51976899,C,-,P395201_S,PARP3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PARP3,NM_001370240:c.-473del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164059186,164059186,G,-,P395201_S,MIR1263,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR1263;LINC01324,dist=169842;dist=372697,NA,NA,NA,NA,NA,NA,NA,NA
chr3,172034918,172034918,A,-,P395201_S,FNDC3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNDC3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,3590873,3590874,AC,-,P395201_S,LINC00955,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LINC00955,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,16240588,16240588,T,-,P395201_S,TAPT1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TAPT1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,22750449,22750449,T,-,P395201_S,GBA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GBA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,66286114,66286114,A,-,P395201_S,EPHA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,129794146,129794147,TG,-,P395201_S,JADE1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,JADE1,NM_001287437:c.*729_*730delTG;NM_199320:c.*729_*730delTG;NM_001287439:c.*729_*730delTG;NM_001287440:c.*729_*730delTG;NM_001287442:c.*729_*730delTG;NM_001287443:c.*729_*730delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr5,95998755,95998758,GAGT,-,P395201_S,CAST,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,CAST,NM_001330628:c.-86_-83del-;NM_001330629:c.-86_-83del-,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178140630,178140630,-,A,P395201_S,ZNF354A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF354A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17779923,17779923,A,-,P395201_S,KIF13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35087760,35087760,-,T,P395201_S,TCP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35262831,35262831,A,-,P395201_S,ZNF76,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF76,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41708153,41708154,TG,-,P395201_S,PGC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PGC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,45296446,45296446,A,-,P395201_S,RUNX2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RUNX2,NM_001015051:c.-18del-;NM_001024630:c.-18del-,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84290088,84290089,GA,-,P395201_S,SNAP91,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SNAP91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111685194,111685195,AC,-,P395201_S,REV3L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,REV3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160157394,160157394,-,A,P395201_S,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2;WTAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2406619,2406619,-,T,P395201_S,EIF3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,31829971,31829971,A,-,P395201_S,PDE1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44687175,44687175,-,T,P395201_S,OGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92900513,92900513,T,-,P395201_S,VPS50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99226797,99226799,CTC,-,P395201_S,ZSCAN25,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZSCAN25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100844570,100844571,TT,-,P395201_S,VPS13B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124381446,124381447,TA,-,P395201_S,ATAD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33056971,33056971,-,A,P395201_S,SMU1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMU1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33795418,33795423,GCCGAG,-,P395201_S,PRSS3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRSS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,108147835,108147836,CT,-,P395201_S,SLC44A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC44A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130941706,130941706,-,A,P395201_S,CIZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CIZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132838832,132838832,T,-,P395201_S,GPR107,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR107,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135942771,135942771,-,T,P395201_S,CEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71010271,71010272,CT,-,P395201_S,HKDC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HKDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,95518482,95518485,TGTT,-,P395201_S,LGI1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105815203,105815203,-,TCA,P395201_S,COL17A1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,COL17A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,117856391,117856392,CG,-,P395201_S,GFRA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GFRA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,3727549,3727549,T,-,P395201_S,NUP98,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP98,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46665815,46665815,-,T,P395201_S,ATG13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46678479,46678480,AC,-,P395201_S,ATG13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATG13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49194879,49194879,-,T,P395201_S,FOLH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117152303,117152303,T,-,P395201_S,RNF214,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF214,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117241635,117241635,A,-,P395201_S,CEP164,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP164,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,134118382,134118382,-,A,P395201_S,THYN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THYN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,44164765,44164766,TC,-,P395201_S,IRAK4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IRAK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50188388,50188388,-,C,P395201_S,NCKAP5L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP5L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58151118,58151118,-,A,P395201_S,MARCHF9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64724816,64724816,A,-,P395201_S,C12orf56,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf56,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66716618,66716618,-,T,P395201_S,HELB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HELB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104131385,104131385,T,-,P395201_S,STAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133266796,133266797,GG,-,P395201_S,PXMP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PXMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50114183,50114183,-,T,P395201_S,POLE2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POLE2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,57364516,57364516,-,T,P395201_S,OTX2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,OTX2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74969077,74969078,TC,-,P395201_S,LTBP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LTBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,104380975,104380975,A,-,P395201_S,ATP5MPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP5MPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91512982,91512982,-,A,P395201_S,PRC1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PRC1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,15501658,15501658,-,T,P395201_S,MPV17L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPV17L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70710944,70710944,C,-,P395201_S,MTSS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTSS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71718539,71718539,A,-,P395201_S,PHLPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,83753786,83753787,AC,-,P395201_S,CDH13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDH13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17716448,17716449,TT,-,P395201_S,SREBF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SREBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43587579,43587579,-,A,P395201_S,LRRC37A4P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LRRC37A4P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2514985,2514986,AG,-,P395201_S,GNG7,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,GNG7,NM_052847:c.*35_*34delCT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6477589,6477589,-,T,P395201_S,DENND1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8601052,8601053,TC,-,P395201_S,MYO1F,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYO1F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19313215,19313220,AGAGAA,-,P395201_S,NR2C2AP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NR2C2AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53754734,53754734,-,A,P395201_S,ZNF677,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF677,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,17956198,17956198,A,-,P395201_S,MGME1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGME1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29628473,29628473,T,-,P395201_S,FRG1BP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,61524974,61524974,A,-,P395201_S,DIDO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIDO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,37591843,37591843,-,T,P395201_S,DOP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21333680,21333701,GGGGCGGGGCCGAGGGCGTTTA,-,P395201_S,AIFM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AIFM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,105139357,105139360,AGAA,-,P395201_S,NRK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,119668222,119668222,-,A,P395201_S,CUL4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CUL4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,147582596,147582598,CCG,-,P395201_S,AFF2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,AFF2,NM_001169122:c.-22_-20del-;NM_001169123:c.-22_-20del-;NM_001169124:c.-22_-20del-;NM_002025:c.-22_-20del-;NM_001169125:c.-22_-20del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41091998,41091999,AC,-,P398678_F,RIMS3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,RIMS3,NM_014747:c.*191_*190delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,79383748,79383748,-,A,P398678_F,ADGRL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109898266,109898266,-,CCG,P398678_F,SORT1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SORT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,111059813,111059814,GA,-,P398678_F,KCNA10,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,KCNA10,dist=25,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145018102,145018102,-,AGAA,P398678_F,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173490664,173490665,TA,-,P398678_F,SLC9C2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC9C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220192193,220192193,A,-,P398678_F,EPRS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPRS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227946501,227946501,-,CC,P398678_F,SNAP47,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SNAP47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235621851,235621851,-,A,P398678_F,B3GALNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B3GALNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,244849569,244849570,TG,-,P398678_F,DESI2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DESI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26486166,26486166,-,A,P398678_F,HADHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HADHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46707338,46707338,-,TAA,P398678_F,TMEM247,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TMEM247,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,87127887,87127887,-,T,P398678_F,ANAPC1P1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANAPC1P1;RGPD2,dist=5722;dist=13048,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98928506,98928506,-,G,P398678_F,VWA3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118850968,118850968,-,GGAGGAGG,P398678_F,INSIG2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120734737,120734737,-,A,P398678_F,PTPN4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTPN4,NM_002830:c.*91_*92insA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,121555235,121555235,-,CCA,P398678_F,GLI2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GLI2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128936172,128936174,ATG,-,P398678_F,UGGT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UGGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,206481632,206481635,AGTA,-,P398678_F,PARD3B,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,PARD3B,NM_152526:c.*1095_*1098delAGTA;NM_001302769:c.*1095_*1098delAGTA;NM_057177:c.*1095_*1098delAGTA;NM_205863:c.*1095_*1098delAGTA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207604137,207604137,A,-,P398678_F,MDH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207945786,207945787,TG,-,P398678_F,KLF7,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,KLF7,NM_001270944:c.*151_*150delCA;NM_001270942:c.*165_*164delCA;NM_003709:c.*151_*150delCA;NM_001270943:c.*151_*150delCA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209049821,209049821,T,-,P398678_F,C2orf80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2orf80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,232577587,232577587,A,-,P398678_F,PTMA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTMA,NM_002823:c.*26delA;NM_001099285:c.*26delA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241395623,241395631,GACGGCGCC,-,P398678_F,LOC100130449,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC100130449,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15425822,15425822,-,A,P398678_F,SH3BP5,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SH3BP5;METTL6,dist=42935;dist=25445,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49339623,49339623,A,-,P398678_F,USP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,77613988,77613989,TG,-,P398678_F,ROBO2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ROBO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,97467362,97467363,TC,-,P398678_F,EPHA6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPHA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111685348,111685349,AT,-,P398678_F,PHLDB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHLDB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160939742,160939742,-,CCCAACATTC,P398678_F,NMD3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,169980957,169980957,A,-,P398678_F,PRKCI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170844017,170844017,A,-,P398678_F,TNIK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179472872,179472872,-,T,P398678_F,USP13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,187896883,187896884,AG,-,P398678_F,FLJ42393,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,FLJ42393,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195378422,195378422,A,-,P398678_F,LOC105374297,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105374297,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197544211,197544211,-,TATTT,P398678_F,LRCH3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LRCH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,22422868,22422868,A,-,P398678_F,ADGRA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68424356,68424357,GT,-,P398678_F,STAP1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,STAP1,dist=88,NA,NA,NA,NA,NA,NA,NA,NA
chr4,85560001,85560002,TA,-,P398678_F,CDS1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,95206100,95206100,T,-,P398678_F,SMARCAD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCAD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,108048860,108048860,A,-,P398678_F,DKK2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,DKK2;PAPSS1,dist=91390;dist=485962,NA,NA,NA,NA,NA,NA,NA,NA
chr5,7891426,7891426,A,-,P398678_F,MTRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149263976,149263977,TA,-,P398678_F,PDE6A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDE6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27858721,27858721,T,-,P398678_F,HIST1H3J,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,HIST1H3J,dist=151,NA,NA,NA,NA,NA,NA,NA,NA
chr6,28199509,28199509,A,-,P398678_F,ZSCAN9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZSCAN9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,47567211,47567211,A,-,P398678_F,CD2AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD2AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,49701363,49701363,-,T,P398678_F,CRISP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRISP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,69666748,69666748,A,-,P398678_F,ADGRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,99859968,99859968,-,A,P398678_F,PNISR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PNISR,NM_001322418:c.*221_*222insT;NM_001322419:c.*221_*222insT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,102124470,102124470,-,T,P398678_F,GRIK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,129950393,129950394,TA,-,P398678_F,ARHGAP18,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGAP18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,145021194,145021196,TTA,-,P398678_F,UTRN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,157495952,157495952,T,-,P398678_F,ARID1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,4901465,4901465,-,CACGTCCCCCACCACCGCGACCTT,P398678_F,PAPOLB,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,PAPOLB,NM_020144:c.-25_-24insAAGGTCGCGGTGGTGGGGGACGTG,NA,NA,NA,NA,NA,NA,NA,NA
chr7,40118525,40118529,ATATA,-,P398678_F,CDK13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDK13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138417539,138417539,A,-,P398678_F,ATP6V0A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V0A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42323208,42323208,A,-,P398678_F,SLC20A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC20A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,132966046,132966046,T,-,P398678_F,EFR3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFR3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,27036682,27036682,A,-,P398678_F,IFT74,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IFT74,NM_001099224:c.*170delA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68433404,68433404,A,-,P398678_F,FRG1JP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,FRG1JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127076073,127076073,G,-,P398678_F,NEK6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14862199,14862199,-,A,P398678_F,CDNF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDNF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26512639,26512640,TG,-,P398678_F,GAD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,38939448,38939450,AAT,-,P398678_F,LINC00999,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC00999;ACTR3BP5,dist=198367;dist=50277,NA,NA,NA,NA,NA,NA,NA,NA
chr10,56345377,56345377,-,TG,P398678_F,LOC105378311,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC105378311,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71664662,71664662,T,-,P398678_F,COL13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114154568,114154569,GT,-,P398678_F,ACSL5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ACSL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62564539,62564539,A,-,P398678_F,NXF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NXF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62749700,62749700,T,-,P398678_F,SLC22A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64053849,64053849,A,-,P398678_F,GPR137,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,GPR137,NM_001170880:c.-148del-;NM_020155:c.-148del-,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66285926,66285926,T,-,P398678_F,BBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76260909,76260909,-,T,P398678_F,EMSY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMSY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76405741,76405741,A,-,P398678_F,GUCY2EP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUCY2EP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89943548,89943548,-,CAGA,P398678_F,CHORDC1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CHORDC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118267262,118267262,-,T,P398678_F,LOC100131626,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100131626,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56561720,56561723,TCTC,-,P398678_F,SMARCC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SMARCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62790336,62790336,T,-,P398678_F,USP15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62894781,62894783,TAT,-,P398678_F,MON2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MON2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,78594404,78594404,-,A,P398678_F,NAV3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105514484,105514485,GT,-,P398678_F,WASHC4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WASHC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133297241,133297242,TC,-,P398678_F,PGAM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PGAM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21949488,21949489,GT,-,P398678_F,MIPEPP3,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,MIPEPP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50100628,50100629,TT,-,P398678_F,PHF11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHF11;SETDB2-PHF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,50100638,50100641,TATT,-,P398678_F,PHF11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHF11;SETDB2-PHF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,77644863,77644863,A,-,P398678_F,MYCBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYCBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21702047,21702047,A,-,P398678_F,HNRNPC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HNRNPC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24644936,24644936,T,-,P398678_F,REC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50579481,50579481,C,-,P398678_F,VCPKMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VCPKMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50802014,50802015,AA,-,P398678_F,CDKL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDKL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,54875592,54875592,T,-,P398678_F,CDKN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,57686350,57686351,AA,-,P398678_F,EXOC5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EXOC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58681822,58681822,-,A,P398678_F,ACTR10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74420127,74420127,C,-,P398678_F,COQ6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42677730,42677731,AG,-,P398678_F,CAPN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,50899297,50899298,AC,-,P398678_F,TRPM7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRPM7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75917007,75917007,A,-,P398678_F,SNUPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNUPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,76079339,76079339,A,-,P398678_F,MIR4313,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MIR4313;UBE2Q2,dist=24683;dist=56449,NA,NA,NA,NA,NA,NA,NA,NA
chr15,81665211,81665211,-,GTGTGTGT,P398678_F,TMC3-AS1,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,TMC3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,83296128,83296128,-,A,P398678_F,CPEB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPEB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,22134675,22134675,A,-,P398678_F,VWA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71209399,71209401,ACC,-,P398678_F,HYDIN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17772623,17772623,A,-,P398678_F,TOM1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOM1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29421446,29421446,-,A,P398678_F,MIR4733,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4733;NF1,dist=499,NA,NA,NA,NA,NA,NA,NA,NA
chr17,31324331,31324332,GT,-,P398678_F,SPACA3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPACA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44597373,44597374,GT,-,P398678_F,ARL17A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARL17A;LRRC37A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57717764,57717764,T,-,P398678_F,CLTC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLTC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21644076,21644077,TG,-,P398678_F,TTC39C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTC39C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,68019182,68019183,TC,-,P398678_F,LINC01909,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LINC01909,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2981345,2981345,-,A,P398678_F,TLE6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3772029,3772029,G,-,P398678_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54376626,54376626,A,-,P398678_F,MYADM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYADM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55044235,55044238,TCCT,-,P398678_F,KIR3DX1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,KIR3DX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57022720,57022720,-,A,P398678_F,ZNF471,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF471,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5556744,5556745,TA,-,P398678_F,GPCPD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GPCPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,9416190,9416190,-,T,P398678_F,PLCB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30333741,30333741,A,-,P398678_F,LTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47692911,47692911,-,T,P398678_F,MCM3AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCM3AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42997945,42997946,TC,-,P398678_F,POLDIP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,POLDIP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,71896111,71896112,AT,-,P398678_F,PHKA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHKA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,109416688,109416688,-,T,P398678_F,TMEM164,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM164,NM_001353851:c.*9_*10insT;NM_017698:c.*9_*10insT;NM_032227:c.*9_*10insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,132888208,132888208,A,-,P398678_F,GPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6173483,6173483,-,A,P398678_S,CHD5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16245610,16245610,-,T,P398678_S,SPEN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,40840249,40840249,-,TGCG,P398678_S,SMAP2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SMAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,111059813,111059814,GA,-,P398678_S,KCNA10,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,KCNA10,dist=25,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151237087,151237087,A,-,P398678_S,PSMD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153732709,153732710,AA,-,P398678_S,INTS3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INTS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182491127,182491127,T,-,P398678_S,RGSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,204978549,204978549,G,-,P398678_S,NFASC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFASC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,231064650,231064650,-,A,P398678_S,TTC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,9981746,9981746,A,-,P398678_S,YWHAQ,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,YWHAQ;TAF1B,dist=210620;dist=1825,NA,NA,NA,NA,NA,NA,NA,NA
chr2,29052284,29052284,T,-,P398678_S,SPDYA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPDYA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37464877,37464877,-,T,P398678_S,NDUFAF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NDUFAF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,98928506,98928506,-,G,P398678_S,VWA3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VWA3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114369806,114369806,-,CTT,P398678_S,RPL23AP7,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,RPL23AP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,128767733,128767733,A,-,P398678_S,SAP130,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAP130,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,141135945,141135945,-,A,P398678_S,LRP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152473987,152473987,A,-,P398678_S,NEB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153004817,153004817,A,-,P398678_S,STAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,163045690,163045690,-,A,P398678_S,FAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,172305178,172305178,T,-,P398678_S,DCAF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCAF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,186625646,186625649,TTGA,-,P398678_S,FSIP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FSIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197943383,197943384,TG,-,P398678_S,ANKRD44,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANKRD44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202137289,202137289,A,-,P398678_S,CASP8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,211481423,211481423,-,T,P398678_S,CPS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,218604302,218604302,-,A,P398678_S,DIRC3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DIRC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231330899,231330899,-,A,P398678_S,SP100,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP100,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,241395623,241395631,GACGGCGCC,-,P398678_S,LOC100130449,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC100130449,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33626186,33626186,-,A,P398678_S,CLASP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLASP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53217394,53217394,G,-,P398678_S,PRKCD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,64590023,64590023,-,A,P398678_S,ADAMTS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,97467362,97467363,TC,-,P398678_S,EPHA6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPHA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122274989,122275000,AAAAAAAAAAAA,-,P398678_S,PARP9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PARP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141892041,141892041,-,A,P398678_S,GK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,142402827,142402827,-,T,P398678_S,PLS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179472872,179472872,-,T,P398678_S,USP13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185867774,185867775,TG,-,P398678_S,DGKG,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,DGKG,NM_001080744:c.*105_*104delCA;NM_001080745:c.*105_*104delCA;NM_001346:c.*105_*104delCA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1807245,1807247,CGC,-,P398678_S,FGFR3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FGFR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39233720,39233720,A,-,P398678_S,WDR19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,56739013,56739013,-,T,P398678_S,EXOC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74847510,74847515,CCCCAG,-,P398678_S,PF4,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,PF4,NM_001363352:c.-18_-23delCTGGGG,NA,NA,NA,NA,NA,NA,NA,NA
chr4,80993003,80993003,A,-,P398678_S,ANTXR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANTXR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120107099,120107099,T,-,P398678_S,MYOZ2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYOZ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,121631396,121631397,AC,-,P398678_S,PRDM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRDM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,122082376,122082376,-,A,P398678_S,TNIP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,184567432,184567432,A,-,P398678_S,RWDD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RWDD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74376381,74376381,T,-,P398678_S,ANKRD31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD31,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,80088494,80088494,T,-,P398678_S,MSH3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94842719,94842719,A,-,P398678_S,TTC37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,115148957,115148957,-,A,P398678_S,CDO1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CDO1,NM_001323566:exon2:c.171-2->T;NM_001323565:exon3:c.228-2->T;NM_001323567:exon2:UTR5;NM_001801:exon2:c.171-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr5,127728682,127728683,TC,-,P398678_S,FBN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,138660881,138660881,-,A,P398678_S,MATR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MATR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,157165597,157165597,-,TT,P398678_S,THG1L,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,THG1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179667027,179667027,-,A,P398678_S,MAPK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,9795472,9795472,-,AGG,P398678_S,LOC100506207,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,LOC100506207;TFAP2A,dist=1009794;dist=601438,NA,NA,NA,NA,NA,NA,NA,NA
chr6,10926515,10926515,T,-,P398678_S,SYCP2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYCP2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,15651643,15651643,A,-,P398678_S,DTNBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DTNBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27858721,27858721,T,-,P398678_S,HIST1H3J,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,HIST1H3J,dist=151,NA,NA,NA,NA,NA,NA,NA,NA
chr6,90450175,90450175,A,-,P398678_S,MDN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111685185,111685185,-,A,P398678_S,REV3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REV3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,128031324,128031324,G,-,P398678_S,THEMIS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THEMIS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,157495952,157495952,T,-,P398678_S,ARID1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,1914184,1914184,A,-,P398678_S,MAD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5770274,5770276,AAC,-,P398678_S,RNF216,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RNF216,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,13949853,13949853,-,T,P398678_S,ETV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,64377939,64377940,TG,-,P398678_S,ZNF273,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF273,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73183676,73183678,TGG,-,P398678_S,CLDN3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,CLDN3,NM_001306:c.*41_*39delCCA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,91936976,91936976,T,-,P398678_S,ANKIB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKIB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99006188,99006190,GCG,-,P398678_S,PDAP1,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,PDAP1,NM_014891:c.-17_-19delCGC,NA,NA,NA,NA,NA,NA,NA,NA
chr7,101956211,101956211,A,-,P398678_S,SH2B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH2B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105175991,105175994,TTTG,-,P398678_S,RINT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RINT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,123335936,123335936,A,-,P398678_S,WASL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138978318,138978318,-,T,P398678_S,UBN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142099832,142099833,CA,-,P398678_S,TRY2P,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,TRY2P;MIR11400,dist=127764;dist=57509,NA,NA,NA,NA,NA,NA,NA,NA
chr8,7191540,7191541,CA,-,P398678_S,FAM66B,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,FAM66B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,61732543,61732543,T,-,P398678_S,CHD7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67955556,67955556,-,A,P398678_S,COPS5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,118175650,118175650,-,T,P398678_S,SLC30A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC30A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,123683643,123683643,A,-,P398678_S,LINC01151,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC01151,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,139774832,139774833,CA,-,P398678_S,COL22A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL22A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141549347,141549347,T,-,P398678_S,AGO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,19096563,19096566,AAAA,-,P398678_S,HAUS6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HAUS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68410007,68410009,CCT,-,P398678_S,LINC00537,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LINC00537,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68427818,68427818,-,A,P398678_S,FRG1JP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,FRG1JP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79852900,79852900,-,T,P398678_S,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99589620,99589620,-,T,P398678_S,ZNF782,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF782,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,112225553,112225553,A,-,P398678_S,PTPN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125932152,125932152,-,AT,P398678_S,STRBP,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,STRBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130206296,130206296,T,-,P398678_S,ZNF79,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF79,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132861594,132861594,A,-,P398678_S,GPR107,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR107,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139752569,139752574,CCCCTC,-,P398678_S,MAMDC4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAMDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140396079,140396079,C,-,P398678_S,PNPLA7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPLA7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14569999,14569999,T,-,P398678_S,FAM107B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM107B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26512639,26512640,TG,-,P398678_S,GAD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,33140911,33140911,A,-,P398678_S,CCDC7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102777152,102777152,T,-,P398678_S,PDZD7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PDZD7,NM_001351044:c.*151delA;NM_024895:c.*189delA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4594737,4594737,-,T,P398678_S,OR52M1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR52M1;OR52I2,dist=27363;dist=13284,NA,NA,NA,NA,NA,NA,NA,NA
chr11,8123006,8123009,TCTG,-,P398678_S,TUB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TUB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17577630,17577630,-,T,P398678_S,OTOG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,20485947,20485947,-,T,P398678_S,PRMT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47840865,47840865,A,-,P398678_S,NUP160,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61040562,61040563,AC,-,P398678_S,VWCE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VWCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62564538,62564538,-,A,P398678_S,NXF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NXF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,94212931,94212931,A,-,P398678_S,MRE11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRE11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,10868143,10868143,A,-,P398678_S,YBX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,19475611,19475611,T,-,P398678_S,PLEKHA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,40912953,40912953,-,A,P398678_S,MUC19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56677664,56677664,-,A,P398678_S,CS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62972210,62972210,-,T,P398678_S,MON2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MON2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71148593,71148593,T,-,P398678_S,PTPRR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72163723,72163723,-,T,P398678_S,RAB21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88926291,88926291,A,-,P398678_S,KITLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KITLG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104461711,104461711,-,T,P398678_S,HCFC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCFC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111701430,111701434,AAAAC,-,P398678_S,CUX2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CUX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,118463653,118463653,-,T,P398678_S,RFC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RFC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124103201,124103202,TG,-,P398678_S,DDX55,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DDX55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133297241,133297242,TC,-,P398678_S,PGAM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PGAM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,32905219,32905219,-,T,P398678_S,BRCA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRCA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,51590472,51590472,-,A,P398678_S,GUCY1B2,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GUCY1B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,77592668,77592668,A,-,P398678_S,FBXL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95271822,95271822,-,T,P398678_S,GPR180,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR180,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,33165375,33165376,TC,-,P398678_S,AKAP6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AKAP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39602850,39602850,T,-,P398678_S,GEMIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEMIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50579481,50579481,C,-,P398678_S,VCPKMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VCPKMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,103425946,103425946,-,A,P398678_S,CDC42BPB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,105238592,105238596,CTGAG,-,P398678_S,AKT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AKT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,33218473,33218473,A,-,P398678_S,FMN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59963288,59963288,-,A,P398678_S,BNIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,63446200,63446205,AAAATT,-,P398678_S,RPS27L,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,RPS27L,NM_015920:c.*31_*26delAATTTT,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72244248,72244248,A,-,P398678_S,MYO9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,76763720,76763720,-,T,P398678_S,SCAPER,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAPER,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,93563164,93563164,-,A,P398678_S,CHD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,7680585,7680586,TC,-,P398678_S,RBFOX1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBFOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11064866,11064867,TT,-,P398678_S,CLEC16A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLEC16A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21994285,21994285,A,-,P398678_S,UQCRC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UQCRC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71209399,71209401,ACC,-,P398678_S,HYDIN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74497443,74497443,T,-,P398678_S,GLG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8025624,8025627,CCCT,-,P398678_S,HES7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HES7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8725370,8725371,TT,-,P398678_S,PIK3R6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIK3R6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17772623,17772623,A,-,P398678_S,TOM1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOM1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29421447,29421447,A,-,P398678_S,MIR4733,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4733;NF1,dist=498,NA,NA,NA,NA,NA,NA,NA,NA
chr17,31324396,31324397,CA,-,P398678_S,SPACA3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPACA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33269773,33269773,-,A,P398678_S,CCT6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCT6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43310211,43310212,TG,-,P398678_S,FMNL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FMNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60374174,60374174,T,-,P398678_S,TBC1D3P2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TBC1D3P2;EFCAB3,dist=21158;dist=73405,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73599520,73599521,CT,-,P398678_S,MYO15B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYO15B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,74208486,74208486,G,-,P398678_S,C18orf65,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,C18orf65,NM_001272093:exon2:c.329+1G>-;NM_001272093:exon3:c.330-1G>-,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9678803,9678803,A,-,P398678_S,ZNF121,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ZNF121,NM_001308269:c.-477delT;NM_001008727:c.-30delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13884445,13884447,TAA,-,P398678_S,MRI1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MRI1,NM_032285:c.*1350_*1352delTAA;NM_001329572:c.*1350_*1352delTAA;NM_001031727:c.*1350_*1352delTAA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35502353,35502354,CT,-,P398678_S,GRAMD1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRAMD1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44006610,44006610,T,-,P398678_S,PHLDB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLDB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46808110,46808110,-,T,P398678_S,HIF3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIF3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55044235,55044238,TCCT,-,P398678_S,KIR3DX1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,KIR3DX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57022720,57022720,-,A,P398678_S,ZNF471,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF471,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,5556744,5556745,TA,-,P398678_S,GPCPD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GPCPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48500736,48500736,G,-,P398678_S,SLC9A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,20929656,20929656,T,-,P398678_S,MED15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40052647,40052650,GAAT,-,P398678_S,CACNA1I,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CACNA1I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,47088662,47088662,-,T,P398678_S,CDK16,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CDK16,NM_033018:c.*495_*496insT;NM_006201:c.*495_*496insT;NM_001170460:c.*495_*496insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49370512,49370514,AAT,-,P398678_S,GAGE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GAGE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54117673,54117673,A,-,P398678_S,FAM120C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM120C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,70368780,70368781,GA,-,P398678_S,NLGN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NLGN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107169297,107169297,T,-,P398678_S,LOC101928335,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101928335,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,108636057,108636057,-,T,P398678_S,GUCY2F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY2F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,6162251,6162252,AC,-,P404679_F,CHD5,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,CHD5,NM_015557:c.*3283_*3282delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21188703,21188703,A,-,P404679_F,EIF4G3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4G3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,23953539,23953540,GA,-,P404679_F,MDS2,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MDS2,dist=284,NA,NA,NA,NA,NA,NA,NA,NA
chr1,86590509,86590509,-,A,P404679_F,COL24A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL24A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89150151,89150151,T,-,P404679_F,PKN2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PKN2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89520330,89520335,AAAAAC,-,P404679_F,GBP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,93697962,93697963,AT,-,P404679_F,CCDC18,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCDC18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,147408675,147408676,AG,-,P404679_F,GPR89B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GPR89B;NBPF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160849029,160849030,CT,-,P404679_F,ITLN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITLN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169819527,169819527,T,-,P404679_F,SCYL3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SCYL3,NM_020423:c.*3327delA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,181762650,181762651,AC,-,P404679_F,CACNA1E,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CACNA1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227834233,227834233,-,C,P404679_F,ZNF678,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF678,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,9597276,9597276,-,TG,P404679_F,CPSF3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CPSF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,15536509,15536509,-,A,P404679_F,NBAS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27000612,27000613,GT,-,P404679_F,SLC35F6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC35F6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74230552,74230552,T,-,P404679_F,TET3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TET3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74649917,74649917,C,-,P404679_F,WDR54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102851246,102851246,-,A,P404679_F,IL1RL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL1RL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,111406725,111406726,CA,-,P404679_F,BUB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BUB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,116593691,116593694,GTGA,-,P404679_F,DPP10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118850436,118850438,GAT,-,P404679_F,INSIG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202545437,202545438,GT,-,P404679_F,MPP4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MPP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207604137,207604137,A,-,P404679_F,MDH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,242343091,242343091,T,-,P404679_F,FARP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52815855,52815856,AC,-,P404679_F,ITIH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52822141,52822142,TC,-,P404679_F,ITIH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITIH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57475437,57475437,A,-,P404679_F,DNAH12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,77613988,77613989,TG,-,P404679_F,ROBO2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ROBO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,78695354,78695354,A,-,P404679_F,ROBO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ROBO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,132179281,132179281,T,-,P404679_F,DNAJC13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,137787232,137787232,T,-,P404679_F,DZIP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DZIP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,137907234,137907234,-,A,P404679_F,ARMC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,145914330,145914330,-,A,P404679_F,PLSCR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLSCR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160141144,160141147,TTTG,-,P404679_F,TRIM59-IFT80,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,TRIM59-IFT80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183028451,183028451,A,-,P404679_F,MCF2L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCF2L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184100959,184100959,G,-,P404679_F,CHRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,188242334,188242334,A,-,P404679_F,LPP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,141448595,141448595,-,T,P404679_F,ELMOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,170483483,170483483,-,A,P404679_F,NEK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55252985,55252985,A,-,P404679_F,IL6ST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL6ST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,65036698,65036698,T,-,P404679_F,NLN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,71411932,71411933,AG,-,P404679_F,MAP1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,156727542,156727543,AA,-,P404679_F,CYFIP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CYFIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179155908,179155908,T,-,P404679_F,CANX,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CANX,NM_001363994:c.*263delT;NM_001363996:c.*263delT;NM_001363999:c.*263delT;NM_001363995:c.*263delT;NM_001364000:c.*263delT;NM_001363998:c.*263delT;NM_001363997:c.*263delT;NM_001364001:c.*263delT;NM_001363993:c.*263delT;NM_001746:c.*263delT;NM_001024649:c.*263delT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,3224825,3224825,A,-,P404679_F,TUBB2B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TUBB2B,NM_178012:c.*160delT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,20102346,20102352,AAAAAAA,-,P404679_F,MBOAT1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MBOAT1,NM_001080480:c.*171_*165delTTTTTTT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27819724,27819724,T,-,P404679_F,HIST1H2BN,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,HIST1H2BN;HIST1H2AL,dist=12836;dist=13383,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84372215,84372215,T,-,P404679_F,SNAP91,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNAP91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,87955207,87955207,T,-,P404679_F,ZNF292,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF292,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88125702,88125702,A,-,P404679_F,CFAP206,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP206,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,89614397,89614397,-,A,P404679_F,RNGTT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNGTT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109215963,109215963,-,T,P404679_F,ARMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111651561,111651561,A,-,P404679_F,REV3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REV3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,119296378,119296378,-,A,P404679_F,FAM184A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM184A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,138820272,138820273,AC,-,P404679_F,NHSL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NHSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,167907702,167907703,AC,-,P404679_F,LOC105378127,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC105378127;LINC02538,dist=22689;dist=159819,NA,NA,NA,NA,NA,NA,NA,NA
chr7,944580,944580,-,G,P404679_F,ADAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,11021972,11021972,-,T,P404679_F,PHF14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,14517651,14517652,AC,-,P404679_F,DGKB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DGKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,43847099,43847099,-,T,P404679_F,BLVRA,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,BLVRA,dist=158,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48045447,48045447,-,C,P404679_F,SUN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75039253,75039260,AAAAAAAT,-,P404679_F,NSUN5P1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,NSUN5P1,dist=345,NA,NA,NA,NA,NA,NA,NA,NA
chr7,135393096,135393099,TCAA,-,P404679_F,SLC13A4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC13A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,155503844,155503844,-,T,P404679_F,RBM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17739342,17739342,-,A,P404679_F,FGL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,32612095,32612095,A,-,P404679_F,NRG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,89340035,89340036,AC,-,P404679_F,MMP16,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MMP16,dist=323,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95658287,95658287,-,T,P404679_F,ESRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,32489660,32489660,A,-,P404679_F,DDX58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,91953234,91953235,AG,-,P404679_F,SECISBP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SECISBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,119064877,119064877,T,-,P404679_F,PAPPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAPPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131360553,131360553,-,T,P404679_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138678017,138678021,GCCCT,-,P404679_F,KCNT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KCNT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13043157,13043157,-,AG,P404679_F,CCDC3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CCDC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26512639,26512640,TG,-,P404679_F,GAD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,26849932,26849932,-,CA,P404679_F,APBB1IP,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,APBB1IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96117979,96117980,CA,-,P404679_F,NOC3L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NOC3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97159239,97159239,A,-,P404679_F,SORBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,114710507,114710507,-,A,P404679_F,TCF7L2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TCF7L2,NM_001367943:c.-9_-8insA;NM_001146274:c.-9_-8insA;NM_001198529:c.-9_-8insA;NM_001146283:c.-9_-8insA;NM_001198528:c.-9_-8insA;NM_001198527:c.-9_-8insA;NM_001146286:c.-9_-8insA;NM_001198531:c.-9_-8insA;NM_001198526:c.-9_-8insA;NM_001198525:c.-9_-8insA;NM_030756:c.-9_-8insA;NM_001146284:c.-9_-8insA;NM_001198530:c.-9_-8insA;NM_001146285:c.-9_-8insA;NM_001363501:c.-9_-8insA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18428561,18428561,-,AT,P404679_F,LDHA,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LDHA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62040694,62040694,-,AC,P404679_F,SCGB2A2,3'Flank,NA,NA,NA,NA,INS,SNVindel,downstream,SCGB2A2,dist=65,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62749699,62749699,-,T,P404679_F,SLC22A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC22A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67232219,67232219,-,C,P404679_F,TMEM134,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM134,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118771285,118771288,GCCT,-,P404679_F,BCL9L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BCL9L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51181971,51181971,T,-,P404679_F,ATF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56510338,56510338,G,-,P404679_F,RPL41,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RPL41,dist=79,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56811590,56811591,GA,-,P404679_F,TIMELESS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TIMELESS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94575163,94575163,A,-,P404679_F,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,42748078,42748079,TG,-,P404679_F,DGKH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DGKH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53419281,53419281,A,-,P404679_F,PCDH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCDH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,73638121,73638121,-,T,P404679_F,KLF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31575374,31575374,A,-,P404679_F,HECTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,45628284,45628285,TA,-,P404679_F,FANCM,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FANCM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50033016,50033016,-,A,P404679_F,LINC00648,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00648;RPS29,dist=1768799;dist=4690,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51289873,51289873,-,T,P404679_F,LOC105370489,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC105370489,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,56104386,56104386,-,A,P404679_F,KTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,62204749,62204749,A,-,P404679_F,HIF1A-AS3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HIF1A-AS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59972353,59972353,-,T,P404679_F,BNIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,74865018,74865018,A,-,P404679_F,ARID3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARID3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3338252,3338252,A,-,P404679_F,ZNF263,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF263,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,29395679,29395679,-,A,P404679_F,NPIPB11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPIPB11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81204804,81204804,-,TC,P404679_F,PKD1L2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PKD1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9939543,9939543,-,T,P404679_F,GAS7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAS7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17322547,17322547,-,A,P404679_F,NT5M,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,NT5M;MED9,dist=71570;dist=57767,NA,NA,NA,NA,NA,NA,NA,NA
chr17,37094715,37094715,-,T,P404679_F,FBXO47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40321697,40321699,GCA,-,P404679_F,KCNH4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KCNH4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43193782,43193783,GT,-,P404679_F,PLCD3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLCD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43310211,43310212,TG,-,P404679_F,FMNL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FMNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,59974795,59974795,T,-,P404679_F,INTS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74023105,74023107,CCA,-,P404679_F,EVPL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EVPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,2960512,2960512,-,A,P404679_F,LPIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,46918155,46918155,-,A,P404679_F,DYM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6466212,6466212,A,-,P404679_F,CRB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6951919,6951919,-,A,P404679_F,ADGRE4P,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,ADGRE4P,dist=592,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16472812,16472812,A,-,P404679_F,EPS15L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS15L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,20735138,20735138,-,A,P404679_F,ZNF737,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF737,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22836873,22836873,-,A,P404679_F,ZNF492,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF492,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37238538,37238538,A,-,P404679_F,ZNF850,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF850,NM_001267779:c.*131delT;NM_001193552:c.*131delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38916585,38916585,C,-,P404679_F,RASGRP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGRP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39066540,39066541,TC,-,P404679_F,RYR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44160406,44160406,-,A,P404679_F,PLAUR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLAUR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45138677,45138678,TC,-,P404679_F,IGSF23,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IGSF23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53627647,53627648,GA,-,P404679_F,ZNF415,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF415,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55255125,55255126,GA,-,P404679_F,KIR2DL3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KIR2DL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29992547,29992548,AC,-,P404679_F,DEFB121,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,DEFB121,dist=100,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35263189,35263190,AG,-,P404679_F,SLA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43542773,43542774,GT,-,P404679_F,UMODL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UMODL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,16914284,16914284,C,-,P404679_F,OR11H1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR11H1;CCT8L2,dist=464480;dist=157357,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29706233,29706233,A,-,P404679_F,GAS2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GAS2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32914334,32914334,A,-,P404679_F,SYN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,21534510,21534510,-,T,P404679_F,CNKSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNKSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,110416183,110416184,TC,-,P404679_F,PAK3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PAK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,118207477,118207479,GAG,-,P404679_F,LONRF3,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LONRF3;KIAA1210,dist=55159;dist=5119,NA,NA,NA,NA,NA,NA,NA,NA
chrX,128948898,128948898,T,-,P404679_F,ZDHHC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129281915,129281915,-,A,P404679_F,AIFM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AIFM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,147026336,147026336,T,-,P404679_F,FMR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3421962,3421962,-,CCG,P404679_S,MEGF6,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MEGF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16747823,16747824,CA,-,P404679_S,SPATA21,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPATA21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32692168,32692168,-,T,P404679_S,EIF3I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,47582243,47582248,TTTCGT,-,P404679_S,CYP4Z1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CYP4Z1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53407406,53407406,-,A,P404679_S,SCP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89520330,89520335,AAAAAC,-,P404679_S,GBP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89732536,89732537,AT,-,P404679_S,GBP5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,143210193,143210193,-,T,P404679_S,LOC102723769,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LOC102723769;RNVU1-1,dist=7954;dist=436821,NA,NA,NA,NA,NA,NA,NA,NA
chr1,147408675,147408676,AG,-,P404679_S,GPR89B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GPR89B;NBPF19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150337132,150337134,CCG,-,P404679_S,RPRD2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,RPRD2,NM_001297673:c.-59_-57del-;NM_001297674:c.-59_-57del-;NM_015203:c.-59_-57del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151010862,151010862,A,-,P404679_S,BNIPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BNIPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,223932744,223932744,A,-,P404679_S,CAPN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAPN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225695604,225695604,T,-,P404679_S,ENAH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ENAH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227834233,227834233,-,C,P404679_S,ZNF678,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF678,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,58362161,58362161,G,-,P404679_S,VRK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VRK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,65231063,65231063,-,T,P404679_S,SLC1A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,73902183,73902183,A,-,P404679_S,ALMS1P1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ALMS1P1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,96601300,96601300,-,TAATTGAG,P404679_S,ANKRD36C,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ANKRD36C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,97509562,97509563,TT,-,P404679_S,ANKRD23,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANKRD23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,102979239,102979239,T,-,P404679_S,IL18R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL18R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,103343634,103343634,T,-,P404679_S,MFSD9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,230668953,230668953,-,A,P404679_S,TRIP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,230705516,230705516,-,A,P404679_S,TRIP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,52778190,52778190,A,-,P404679_S,NEK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,152058229,152058229,T,-,P404679_S,TMEM14EP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,TMEM14EP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,197501003,197501003,T,-,P404679_S,FYTTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FYTTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68424379,68424380,TG,-,P404679_S,STAP1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,STAP1,dist=65,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113178966,113178966,-,A,P404679_S,AP1AR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AP1AR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,141448595,141448595,-,T,P404679_S,ELMOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,170483144,170483144,T,-,P404679_S,NEK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,170483483,170483483,-,A,P404679_S,NEK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37333742,37333742,A,-,P404679_S,NUP155,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55252985,55252985,A,-,P404679_S,IL6ST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL6ST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,66414489,66414489,-,T,P404679_S,MAST4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAST4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,86704952,86704952,-,A,P404679_S,CCNH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,87502326,87502326,A,-,P404679_S,TMEM161B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM161B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,138758546,138758546,-,T,P404679_S,DNAJC18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,149263976,149263977,TA,-,P404679_S,PDE6A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDE6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,157075944,157075945,AC,-,P404679_S,SOX30,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SOX30,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17779923,17779923,A,-,P404679_S,KIF13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24666320,24666320,-,A,P404679_S,TDP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,34735653,34735653,T,-,P404679_S,SNRPC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,34934996,34934996,-,T,P404679_S,ANKS1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKS1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,119511121,119511121,A,-,P404679_S,MAN1A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152646994,152646994,A,-,P404679_S,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,8267926,8267926,-,A,P404679_S,ICA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ICA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,38810877,38810877,-,T,P404679_S,VPS41,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS41,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,47546546,47546546,-,A,P404679_S,TNS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48058220,48058220,A,-,P404679_S,SUN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,87027420,87027420,T,-,P404679_S,CROT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CROT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92900513,92900513,T,-,P404679_S,VPS50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111462314,111462314,-,A,P404679_S,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150919376,150919376,T,-,P404679_S,ABCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCF2;LOC114483834,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151168416,151168418,AAT,-,P404679_S,RHEB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RHEB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,52359455,52359456,TA,-,P404679_S,PXDNL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PXDNL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,60031708,60031708,A,-,P404679_S,LOC100505501,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,LOC100505501;TOX,dist=61,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62557195,62557195,-,A,P404679_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95658287,95658287,-,T,P404679_S,ESRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110573289,110573289,-,T,P404679_S,EBAG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EBAG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,124817605,124817605,-,T,P404679_S,FAM91A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM91A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,20932890,20932890,T,-,P404679_S,FOCAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOCAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,32423440,32423442,GCA,-,P404679_S,ACO1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ACO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75445655,75445655,T,-,P404679_S,TMC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,91693091,91693091,T,-,P404679_S,SHC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,91953234,91953235,AG,-,P404679_S,SECISBP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SECISBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,124095004,124095004,T,-,P404679_S,GSN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GSN,NM_001353053:c.*123delT;NM_001353054:c.*123delT;NM_001127662:c.*123delT;NM_001127663:c.*123delT;NM_001127664:c.*123delT;NM_001127665:c.*123delT;NM_001127666:c.*123delT;NM_001127667:c.*123delT;NM_001353055:c.*123delT;NM_001353056:c.*123delT;NM_001353057:c.*123delT;NM_001353058:c.*123delT;NM_001353059:c.*123delT;NM_001353060:c.*123delT;NM_001353061:c.*123delT;NM_001353063:c.*123delT;NM_001353064:c.*123delT;NM_001353065:c.*123delT;NM_001353066:c.*123delT;NM_001353067:c.*123delT;NM_001353068:c.*123delT;NM_001353069:c.*123delT;NM_001353070:c.*123delT;NM_001353071:c.*123delT;NM_001353072:c.*123delT;NM_001353073:c.*123delT;NM_001353074:c.*123delT;NM_001353076:c.*123delT;NM_001353078:c.*123delT;NM_198252:c.*123delT;NM_001353062:c.*123delT;NM_001258029:c.*123delT;NM_001258030:c.*123delT;NM_001353075:c.*123delT;NM_001353077:c.*123delT;NM_000177:c.*123delT,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127088492,127088493,CG,-,P404679_S,NEK6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NEK6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,128677942,128677943,TC,-,P404679_S,PBX3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PBX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13150911,13150912,CA,-,P404679_S,OPTN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OPTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,18803852,18803852,A,-,P404679_S,CACNB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70520637,70520639,AAA,-,P404679_S,CCAR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCAR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,96256985,96256985,T,-,P404679_S,TBC1D12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,115417152,115417154,TAA,-,P404679_S,NRAP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,120460751,120460751,-,A,P404679_S,CACUL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACUL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,127414473,127414473,-,A,P404679_S,EDRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,4622926,4622926,-,A,P404679_S,TRIM68,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM68,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,32852020,32852020,T,-,P404679_S,PRRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67232219,67232219,-,C,P404679_S,TMEM134,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM134,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,106695515,106695515,T,-,P404679_S,GUCY1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUCY1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,14767493,14767493,A,-,P404679_S,PLBD1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,PLBD1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51181971,51181971,T,-,P404679_S,ATF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56510338,56510338,G,-,P404679_S,RPL41,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,RPL41,dist=79,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56811590,56811591,GA,-,P404679_S,TIMELESS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TIMELESS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,63543552,63543555,TCTC,-,P404679_S,AVPR1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AVPR1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94575163,94575163,A,-,P404679_S,PLXNC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLXNC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109052795,109052796,AG,-,P404679_S,CORO1C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CORO1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132448280,132448280,T,-,P404679_S,EP400,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EP400,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53009107,53009107,T,-,P404679_S,VPS36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,115002098,115002098,T,-,P404679_S,CDC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,53130318,53130318,A,-,P404679_S,ERO1A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERO1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,70793016,70793016,A,-,P404679_S,COX16,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,COX16;SYNJ2BP-COX16,NM_016468:c.*34delT;NM_001204090:c.*34delT;NM_001202547:c.*34delT;NM_001202549:c.*34delT;NM_001202548:c.*34delT,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41364266,41364266,A,-,P404679_S,INO80,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INO80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42579747,42579747,T,-,P404679_S,GANC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GANC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3338252,3338252,A,-,P404679_S,ZNF263,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF263,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14698125,14698125,-,T,P404679_S,PARN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,46708574,46708574,-,A,P404679_S,VPS35,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,VPS35,NM_018206:exon9:c.915-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70691054,70691055,GT,-,P404679_S,IL34,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IL34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8064056,8064057,AC,-,P404679_S,VAMP2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,VAMP2,NM_001330125:c.*117_*116delGT;NM_014232:c.*117_*116delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,43310211,43310212,TG,-,P404679_S,FMNL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FMNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66033402,66033402,A,-,P404679_S,KPNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KPNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,12115074,12115074,-,T,P404679_S,ANKRD62,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD62,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14526884,14526884,A,-,P404679_S,DDX39A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX39A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,19378177,19378177,A,-,P404679_S,TM6SF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM6SF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22000908,22000908,-,T,P404679_S,ZNF43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37238538,37238538,A,-,P404679_S,ZNF850,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNF850,NM_001267779:c.*131delT;NM_001193552:c.*131delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37967220,37967220,T,-,P404679_S,ZNF570,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF570,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,40419370,40419370,A,-,P404679_S,FCGBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCGBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41404655,41404655,-,A,P404679_S,CYP2G1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CYP2G1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,45138677,45138678,TC,-,P404679_S,IGSF23,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IGSF23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,49339683,49339684,TC,-,P404679_S,HSD17B14,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,HSD17B14,NM_016246:c.-15_-16delGA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53455152,53455152,-,A,P404679_S,ZNF816,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF816;ZNF816-ZNF321P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,53627647,53627648,GA,-,P404679_S,ZNF415,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF415,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3245006,3245006,T,-,P404679_S,C20orf194,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C20orf194,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,31451789,31451789,T,-,P404679_S,EFCAB8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFCAB8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34117068,34117068,A,-,P404679_S,PAXBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAXBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,19394805,19394805,-,A,P404679_S,HIRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41195143,41195143,T,-,P404679_S,SLC25A17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41829913,41829913,-,T,P404679_S,TOB2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TOB2,NM_016272:c.*2401_*2402insA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,71896111,71896112,AT,-,P404679_S,PHKA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHKA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107840190,107840191,TG,-,P404679_S,COL4A5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,138670607,138670607,A,-,P404679_S,MCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,8601192,8601193,AC,-,P411907_F,RERE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RERE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16785154,16785154,-,A,P411907_F,NECAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21102503,21102503,A,-,P411907_F,HP1BP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HP1BP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,28535045,28535045,A,-,P411907_F,DNAJC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32384717,32384717,A,-,P411907_F,PTP4A2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,PTP4A2,NM_001369860:c.-51delT;NM_080391:c.-51delT;NM_001195100:c.-51delT;NM_001195101:c.-51delT;NM_001369859:c.-51delT;NM_001369858:c.-51delT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,34023218,34023219,AC,-,P411907_F,CSMD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSMD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,34033079,34033080,AT,-,P411907_F,CSMD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSMD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,61548345,61548346,TC,-,P411907_F,NFIA,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,NFIA,NM_005595:c.-119_-118del-;NM_001134673:c.-119_-118del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94012889,94012889,-,T,P411907_F,FNBP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNBP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852532,144852532,-,CCC,P411907_F,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155194531,155194531,-,A,P411907_F,GBAP1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GBAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159826562,159826563,CA,-,P411907_F,VSIG8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VSIG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,166959323,166959323,A,-,P411907_F,MAEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173626609,173626609,-,A,P411907_F,ANKRD45,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD45,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207132821,207132821,A,-,P411907_F,FCAMR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCAMR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37342387,37342387,A,-,P411907_F,EIF2AK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF2AK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61315639,61315640,TA,-,P411907_F,KIAA1841,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KIAA1841,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,114210817,114210817,-,T,P411907_F,CBWD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBWD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108723756,108723756,-,A,P411907_F,MORC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MORC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,118878849,118878849,-,A,P411907_F,TEX55,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,TEX55;UPK1B,dist=8546;dist=13596,NA,NA,NA,NA,NA,NA,NA,NA
chr3,130141499,130141499,T,-,P411907_F,COL6A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL6A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,143551066,143551066,A,-,P411907_F,SLC9A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151102791,151102792,CT,-,P411907_F,MED12L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MED12L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160138723,160138723,-,T,P411907_F,TRIM59-IFT80,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRIM59-IFT80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71634114,71634114,-,T,P411907_F,RUFY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUFY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,121631396,121631397,AC,-,P411907_F,PRDM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRDM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,32385568,32385568,-,A,P411907_F,ZFR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZFR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,114605498,114605498,-,A,P411907_F,CCDC112,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC112,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,118576097,118576097,T,-,P411907_F,DMXL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMXL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150718878,150718878,-,T,P411907_F,SLC36A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC36A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,25285027,25285027,T,-,P411907_F,CARMIL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARMIL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56347073,56347073,A,-,P411907_F,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,91263309,91263309,-,A,P411907_F,MAP3K7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,116912034,116912034,T,-,P411907_F,RWDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RWDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,16317860,16317860,A,-,P411907_F,CRPPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRPPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75889151,75889151,-,C,P411907_F,SRRM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRRM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99770089,99770089,T,-,P411907_F,GPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,139605870,139605870,T,-,P411907_F,TBXAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBXAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151273595,151273595,T,-,P411907_F,PRKAG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKAG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,109214083,109214083,-,T,P411907_F,EIF3E,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,EIF3E,NM_001568:c.*30_*31insA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110567214,110567214,-,T,P411907_F,EBAG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EBAG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,133623442,133623442,T,-,P411907_F,LRRC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35107317,35107317,A,-,P411907_F,FAM214B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM214B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,97109480,97109480,-,T,P411907_F,LOC100132077,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100132077,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125932153,125932154,AT,-,P411907_F,STRBP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STRBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,29813360,29813361,AC,-,P411907_F,SVIL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SVIL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104449586,104449586,-,A,P411907_F,ARL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105063898,105063898,T,-,P411907_F,PCGF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCGF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17630007,17630008,GT,-,P411907_F,OTOG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OTOG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61088878,61088878,-,T,P411907_F,DDB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73806199,73806199,-,A,P411907_F,C2CD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2CD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,82550235,82550235,-,T,P411907_F,PRCP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRCP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,85371655,85371658,AGAG,-,P411907_F,CREBZF,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,CREBZF,NM_001039618:c.*3200_*3197delCTCT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,124622194,124622195,AA,-,P411907_F,VSIG2,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,VSIG2;ESAM,dist=43;dist=828,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18243110,18243110,G,-,P411907_F,RERGL,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RERGL,NM_024730:c.-893delC;NM_001286201:c.-36delC,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27950067,27950067,-,A,P411907_F,KLHL42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,30903904,30903905,TG,-,P411907_F,CAPRIN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAPRIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51392898,51392898,A,-,P411907_F,SLC11A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC11A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,100657163,100657163,T,-,P411907_F,DEPDC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DEPDC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111866820,111866822,GAG,-,P411907_F,SH2B3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SH2B3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,125272258,125272258,-,T,P411907_F,SCARB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCARB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,19420047,19420053,TTCGTAT,-,P411907_F,ANKRD20A9P,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ANKRD20A9P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,32606159,32606160,TT,-,P411907_F,FRY,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FRY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46933447,46933447,-,A,P411907_F,RUBCNL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUBCNL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,53239755,53239755,T,-,P411907_F,SUGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21957743,21957743,-,T,P411907_F,TOX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65252070,65252070,A,-,P411907_F,SPTB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62242754,62242754,-,A,P411907_F,VPS13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72954508,72954508,-,T,P411907_F,GOLGA6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,83011382,83011382,-,T,P411907_F,GOLGA6L17P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GOLGA6L17P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45105632,45105632,T,-,P411907_F,RPRML,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RPRML;ARL17A,dist=49013;dist=3320,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45221351,45221351,A,-,P411907_F,CDC27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,76229777,76229778,AA,-,P411907_F,TMEM235,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMEM235,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,54358364,54358364,T,-,P411907_F,WDR7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77246095,77246095,T,-,P411907_F,NFATC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFATC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,2557011,2557012,AC,-,P411907_F,GNG7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GNG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50965448,50965448,T,-,P411907_F,MYBPC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYBPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55049078,55049078,-,AA,P411907_F,KIR3DX1,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,KIR3DX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47951041,47951044,TTTT,-,P411907_F,ZFAS1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,ZFAS1;KCNB1,dist=45246;dist=29370,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62062654,62062655,CA,-,P411907_F,KCNQ2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KCNQ2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,32597972,32597972,-,A,P411907_F,TIAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30409662,30409662,T,-,P411907_F,HORMAD2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HORMAD2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32914333,32914333,-,A,P411907_F,SYN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16761749,16761749,A,-,P411907_F,SYAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,32305880,32305881,AT,-,P411907_F,DMD,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DMD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,40547504,40547504,-,A,P411907_F,MED14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49138291,49138291,A,-,P411907_F,PPP1R3F,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R3F,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53629650,53629651,AT,-,P411907_F,HUWE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117119410,117119410,-,A,P411907_F,KLHL13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,122616963,122616963,T,-,P411907_F,GRIA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,1588808,1588808,-,A,P411907_S,CDK11B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK11B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,48869246,48869254,ATAATAATC,-,P411907_S,SPATA6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPATA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,94883978,94883980,GCC,-,P411907_S,ABCD3,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,ABCD3,NM_001122674:c.-57_-55del-;NM_002858:c.-57_-55del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,116916941,116916964,TGGTGGGGAGAGGCGTGCAGATTT,-,P411907_S,ATP1A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATP1A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120926153,120926153,-,T,P411907_S,LOC100996318,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC100996318,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144852532,144852532,-,CCC,P411907_S,LOC100996724,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150253033,150253033,T,-,P411907_S,C1orf54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151687999,151688000,CA,-,P411907_S,CELF3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CELF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159826562,159826563,CA,-,P411907_S,VSIG8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VSIG8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,166959323,166959323,A,-,P411907_S,MAEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,184688238,184688239,GT,-,P411907_S,EDEM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EDEM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,224344992,224344995,GTAA,-,P411907_S,FBXO28,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FBXO28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225974548,225974548,T,-,P411907_S,SRP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1271520,1271520,A,-,P411907_S,SNTG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNTG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,3652537,3652537,A,-,P411907_S,COLEC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COLEC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46739060,46739061,AG,-,P411907_S,ATP6V1E2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ATP6V1E2,NM_001318063:c.*110_*109delCT;NM_001371283:c.*110_*109delCT;NM_001371281:c.*110_*109delCT;NM_001371282:c.*110_*109delCT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95488913,95488919,TTTGTAT,-,P411907_S,ANKRD20A8P,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ANKRD20A8P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,110325591,110325591,T,-,P411907_S,SEPTIN10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEPTIN10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,118850968,118850968,-,GGAGGAGG,P411907_S,INSIG2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,INSIG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,198257674,198257674,A,-,P411907_S,SF3B1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SF3B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,234668880,234668881,AT,-,P411907_S,UGT1A10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,32022334,32022335,CA,-,P411907_S,OSBPL10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OSBPL10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49155556,49155556,A,-,P411907_S,USP19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,62249821,62249821,A,-,P411907_S,PTPRG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PTPRG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113667549,113667550,AG,-,P411907_S,ZDHHC23,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,ZDHHC23,NM_001320468:c.-101_-100del-;NM_001320466:c.-101_-100del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,196215451,196215451,-,A,P411907_S,RNF168,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF168,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,30341581,30341582,GT,-,P411907_S,LINC02472,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC02472;PCDH7,dist=1118798;dist=380409,NA,NA,NA,NA,NA,NA,NA,NA
chr4,44685237,44685237,T,-,P411907_S,GUF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GUF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,69431176,69431176,T,-,P411907_S,UGT2B17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UGT2B17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79345349,79345349,T,-,P411907_S,FRAS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,89080502,89080515,GAAAGTGGATGCTT,-,P411907_S,ABCG2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ABCG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120330888,120330888,G,-,P411907_S,LINC01061,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC01061,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,121631362,121631363,AC,-,P411907_S,PRDM5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRDM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,26889881,26889881,-,TAA,P411907_S,CDH9,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CDH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,99727495,99727497,CTC,-,P411907_S,LOC100133050,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC100133050;FAM174A,dist=3537;dist=143581,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147793666,147793666,-,T,P411907_S,FBXO38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBXO38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,150718878,150718878,-,T,P411907_S,SLC36A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC36A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,174919361,174919361,-,T,P411907_S,SFXN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFXN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178412702,178412702,-,AA,P411907_S,GRM6,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GRM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,20212200,20212200,-,ACAC,P411907_S,MBOAT1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MBOAT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,38952247,38952248,CA,-,P411907_S,DNAH8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNAH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,116912034,116912034,T,-,P411907_S,RWDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RWDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,121638926,121638926,-,TGCTAAGG,P411907_S,TBC1D32,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TBC1D32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,128561077,128561078,CA,-,P411907_S,PTPRK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,132909593,132909594,TA,-,P411907_S,TAAR5,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,TAAR5,dist=137,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95447622,95447622,-,T,P411907_S,DYNC1I1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1I1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,101267316,101267318,AAT,-,P411907_S,MYL10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYL10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103127001,103127001,A,-,P411907_S,LOC101927870,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927870,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,12636,12636,-,AGGCACAG,P411907_S,DDX11L5,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,DDX11L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,27454966,27454966,-,T,P411907_S,MOB3B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOB3B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,35107317,35107317,A,-,P411907_S,FAM214B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM214B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,68415181,68415184,ATTA,-,P411907_S,MIR4477B,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MIR4477B;LINC00537;MIR4477A,dist=124;dist=124,NA,NA,NA,NA,NA,NA,NA,NA
chr9,100107846,100107846,T,-,P411907_S,SUGT1P4-STRA6LP-CCDC180,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SUGT1P4-STRA6LP-CCDC180,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111882356,111882356,A,-,P411907_S,TMEM245,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TMEM245,dist=129,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6150849,6150852,CCTG,-,P411907_S,RBM17,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBM17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,11653527,11653529,GCG,-,P411907_S,LOC107984208,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LOC107984208,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,13749274,13749275,AC,-,P411907_S,FRMD4A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FRMD4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,38939620,38939620,C,-,P411907_S,LINC00999,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC00999;ACTR3BP5,dist=198539;dist=50107,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75865334,75865334,-,T,P411907_S,VCL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VCL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105768158,105768158,A,-,P411907_S,SLK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,85371655,85371658,AGAG,-,P411907_S,CREBZF,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,CREBZF,NM_001039618:c.*3200_*3197delCTCT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107506306,107506306,C,-,P411907_S,ELMOD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELMOD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118889386,118889388,GGA,-,P411907_S,RPS25,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,RPS25;TRAPPC4,dist=88,NA,NA,NA,NA,NA,NA,NA,NA
chr12,6640676,6640676,-,A,P411907_S,NCAPD2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NCAPD2,NM_014865:c.*98_*99insA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,18243110,18243110,G,-,P411907_S,RERGL,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RERGL,NM_024730:c.-893delC;NM_001286201:c.-36delC,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27803098,27803099,CT,-,P411907_S,PPFIBP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PPFIBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66253699,66253699,A,-,P411907_S,HMGA2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,HMGA2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,119773147,119773147,T,-,P411907_S,CCDC60,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC60,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,19420047,19420053,TTCGTAT,-,P411907_S,ANKRD20A9P,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ANKRD20A9P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,76179846,76179846,T,-,P411907_S,LMO7-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LMO7-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50245445,50245445,T,-,P411907_S,KLHDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74711712,74711713,AG,-,P411907_S,VSX2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VSX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,37184735,37184735,-,T,P411907_S,MEIS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,57212196,57212208,CTTTCCATGGCAT,-,P411907_S,TCF12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TCF12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75909901,75909901,-,A,P411907_S,SNUPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNUPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4414187,4414187,A,-,P411907_S,CORO7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CORO7;CORO7-PAM16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4797795,4797795,A,-,P411907_S,C16orf71,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C16orf71,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69395141,69395141,-,A,P411907_S,TERF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TERF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71961894,71961899,CTGAGA,-,P411907_S,IST1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,IST1,NM_001270976:c.*178_*183delCTGAGA;NM_001270979:c.*178_*183delCTGAGA;NM_001270975:c.*178_*183delCTGAGA;NM_014761:c.*192_*197delCTGAGA;NM_001270977:c.*178_*183delCTGAGA;NM_001270978:c.*178_*183delCTGAGA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74951707,74951708,AA,-,P411907_S,WDR59,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WDR59,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3980491,3980492,TT,-,P411907_S,ZZEF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZZEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,18211984,18211984,-,T,P411907_S,TOP3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOP3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38296636,38296636,-,ACACCCCA,P411907_S,CASC3,5'Flank,NA,NA,NA,NA,INS,SNVindel,upstream,CASC3,dist=154,NA,NA,NA,NA,NA,NA,NA,NA
chr17,44962362,44962362,-,T,P411907_S,WNT9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WNT9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57952084,57952090,TGAACTA,-,P411907_S,TUBD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TUBD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,11610673,11610673,-,C,P411907_S,SLC35G4,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,SLC35G4,dist=62,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29769823,29769823,A,-,P411907_S,MEP1B,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MEP1B,dist=179,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38958666,38958669,CATC,-,P411907_S,RYR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RYR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39297008,39297008,A,-,P411907_S,LGALS4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGALS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,44268503,44268514,ATTATTATTATT,-,P411907_S,SMG9,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,SMG9;KCNN4,dist=9389;dist=2171,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55049078,55049078,-,AA,P411907_S,KIR3DX1,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,KIR3DX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,29625924,29625924,-,CTT,P411907_S,FRG1BP,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,FRG1BP;FRG1DP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,33232992,33232992,A,-,P411907_S,PIGU,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,34433293,34433293,-,T,P411907_S,PHF20,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57242131,57242131,-,T,P411907_S,STX16-NPEPL1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,STX16-NPEPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,22696934,22696934,A,-,P411907_S,NCAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38570056,38570056,A,-,P411907_S,TTC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30165486,30165486,A,-,P411907_S,UQCR10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UQCR10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,32548037,32548037,A,-,P411907_S,C22orf42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C22orf42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,7175843,7175844,TG,-,P411907_S,STS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53654501,53654502,TA,-,P411907_S,HUWE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,20411300,20411300,-,T,P432157_F,PLA2G5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLA2G5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32691628,32691628,-,A,P432157_F,EIF3I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,42905859,42905859,A,-,P432157_F,ZMYND12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYND12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,45976928,45976928,-,A,P432157_F,MMACHC,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MMACHC;PRDX1,NM_015506:c.*2041_*2042insA;NM_001330540:c.*2041_*2042insA;NM_001202431:c.*72_*73insT;NM_181696:c.*72_*73insT;NM_002574:c.*72_*73insT;NM_181697:c.*72_*73insT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65234217,65234217,T,-,P432157_F,RAVER2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAVER2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89732536,89732537,AT,-,P432157_F,GBP5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92763091,92763091,-,A,P432157_F,GLMN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLMN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103356073,103356073,A,-,P432157_F,COL11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209378,145209379,CC,-,P432157_F,NOTCH2NLB,RNA,NA,NA,NA,NA,DEL,SNVindel,exonic,NOTCH2NLB;NOTCH2NLC,NM_001364013:exon2:r.spl;NM_001364013:exon3:r.spl,frameshift deletion,NOTCH2NLB:NM_001364007:exon2:c.15_16del:p.P6Rfs*27,NA,NA,NA,NA,NA,NA
chr1,145287212,145287212,-,G,P432157_F,NOTCH2NLB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NOTCH2NLB,NM_001364007:c.*5181_*5182insG;NM_001364008:c.*5181_*5182insG,NA,NA,NA,NA,NA,NA,NA,NA
chr1,172577865,172577865,T,-,P432157_F,SUCO,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUCO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173881164,173881164,A,-,P432157_F,SERPINC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227218086,227218086,A,-,P432157_F,CDC42BPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37487342,37487342,A,-,P432157_F,PRKD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55559652,55559652,A,-,P432157_F,CCDC88A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61552379,61552379,-,T,P432157_F,USP34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101627344,101627344,A,-,P432157_F,RPL31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL31;TBC1D8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,108520565,108520565,-,A,P432157_F,RGPD4,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RGPD4;SLC5A7,dist=11565;dist=82415,NA,NA,NA,NA,NA,NA,NA,NA
chr2,108915009,108915009,T,-,P432157_F,SULT1C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SULT1C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,171850598,171850598,A,-,P432157_F,TLK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,189859389,189859389,A,-,P432157_F,COL3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,231177201,231177201,T,-,P432157_F,SP140,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SP140,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233271698,233271699,AC,-,P432157_F,ALPG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ALPG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51505206,51505207,TT,-,P432157_F,DCAF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DCAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51930712,51930713,CA,-,P432157_F,IQCF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IQCF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121001056,121001056,T,-,P432157_F,STXBP5L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STXBP5L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121515940,121515940,-,T,P432157_F,IQCB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128781258,128781258,-,T,P432157_F,GP9,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,GP9,dist=4,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141906447,141906447,A,-,P432157_F,GK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150804591,150804594,AGCG,-,P432157_F,MED12L,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,MED12L,NM_053002:c.-123_-120del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,151102791,151102792,CT,-,P432157_F,MED12L,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MED12L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170811928,170811928,-,T,P432157_F,TNIK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNIK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185209637,185209637,-,T,P432157_F,TMEM41A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM41A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,1389456,1389457,CA,-,P432157_F,UVSSA,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,UVSSA;NKX1-1,dist=7619;dist=7263,NA,NA,NA,NA,NA,NA,NA,NA
chr4,27022679,27022679,-,A,P432157_F,STIM2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,STIM2,NM_001169117:c.*20_*21insA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47892571,47892571,-,A,P432157_F,LOC101927179,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927179,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,87970730,87970730,T,-,P432157_F,AFF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99802301,99802301,A,-,P432157_F,EIF4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99824512,99824512,T,-,P432157_F,EIF4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100787124,100787125,TA,-,P432157_F,DAPP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DAPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146031237,146031237,T,-,P432157_F,ABCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4095683,4095683,-,T,P432157_F,IRX1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,IRX1;LINC02114,dist=494166;dist=677911,NA,NA,NA,NA,NA,NA,NA,NA
chr5,56231362,56231362,A,-,P432157_F,MIER3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIER3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,70307058,70307058,A,-,P432157_F,NAIP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAIP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,74072339,74072339,-,A,P432157_F,NSA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,86669965,86669965,T,-,P432157_F,CCNH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNH;RASA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,102484798,102484799,AC,-,P432157_F,PPIP5K2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PPIP5K2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,108673121,108673121,-,A,P432157_F,PJA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PJA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122267539,122267539,T,-,P432157_F,SNX24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,151169792,151169792,A,-,P432157_F,G3BP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,G3BP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43469786,43469787,AC,-,P432157_F,TJAP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TJAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55988838,55988838,T,-,P432157_F,COL21A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL21A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,86251852,86251852,A,-,P432157_F,SNX14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,116912033,116912033,-,T,P432157_F,RWDD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RWDD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117859722,117859722,T,-,P432157_F,DCBLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCBLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,128561077,128561078,CA,-,P432157_F,PTPRK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135286439,135286439,A,-,P432157_F,HBS1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HBS1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152765727,152765727,A,-,P432157_F,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160106071,160106071,A,-,P432157_F,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,160157278,160157278,T,-,P432157_F,SOD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOD2;WTAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32249155,32249155,-,A,P432157_F,PDE1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,37953720,37953723,CTTT,-,P432157_F,SFRP4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SFRP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,76982761,76982761,-,T,P432157_F,GSAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,77234110,77234111,AT,-,P432157_F,PTPN12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92875396,92875396,T,-,P432157_F,VPS50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,93346067,93346068,CT,-,P432157_F,MIR4652,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MIR4652,dist=172,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99936693,99936693,T,-,P432157_F,STAG3L5P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,STAG3L5P;STAG3L5P-PVRIG2P-PILRB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111936436,111936436,T,-,P432157_F,ZNF277,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF277,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,120831493,120831493,A,-,P432157_F,TAF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144459345,144459346,TG,-,P432157_F,RHPN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RHPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,6620484,6620484,A,-,P432157_F,GLDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,19086619,19086619,A,-,P432157_F,HAUS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HAUS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75807395,75807395,A,-,P432157_F,ANXA1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ANXA1;LOC101927358,dist=22086;dist=1179052,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79896655,79896655,-,TA,P432157_F,VPS13A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,84231237,84231237,A,-,P432157_F,TLE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,88842954,88842954,A,-,P432157_F,C9orf153,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C9orf153,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,95618658,95618658,A,-,P432157_F,ZNF484,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF484,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,99537347,99537347,-,T,P432157_F,ZNF510,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF510,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131397627,131397627,A,-,P432157_F,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132861594,132861594,A,-,P432157_F,GPR107,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPR107,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,11653395,11653397,CCG,-,P432157_F,LOC107984208,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LOC107984208,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14572299,14572299,A,-,P432157_F,FAM107B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM107B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,29788029,29788030,AC,-,P432157_F,SVIL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SVIL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97146882,97146882,-,A,P432157_F,SORBS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SORBS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,97442251,97442251,A,-,P432157_F,TCTN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCTN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124648368,124648368,T,-,P432157_F,LOC399815,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC399815,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124920171,124920171,-,T,P432157_F,BUB3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BUB3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,34162869,34162870,CA,-,P432157_F,NAT10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NAT10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,48347564,48347564,T,-,P432157_F,OR4C3,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR4C3,dist=57,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61731463,61731463,A,-,P432157_F,BEST1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BEST1,NM_001363592:c.*1732delA;NM_001139443:c.*842delA;NM_001363591:c.*842delA;NM_001363593:c.*842delA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70172683,70172683,T,-,P432157_F,PPFIA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,74053486,74053486,A,-,P432157_F,PGM2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGM2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77060170,77060170,A,-,P432157_F,PAK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,8813346,8813346,T,-,P432157_F,MFAP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFAP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,30822240,30822240,C,-,P432157_F,IPO8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IPO8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54744007,54744007,T,-,P432157_F,COPZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56551173,56551173,-,A,P432157_F,MYL6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYL6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57929244,57929245,AC,-,P432157_F,DCTN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DCTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81205199,81205200,TA,-,P432157_F,LIN7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LIN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102008088,102008089,GT,-,P432157_F,MYBPC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104374868,104374869,TG,-,P432157_F,TDG,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TDG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,109219857,109219857,A,-,P432157_F,SSH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123343927,123343927,-,G,P432157_F,HIP1R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133375067,133375067,A,-,P432157_F,GOLGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,20233805,20233805,A,-,P432157_F,MPHOSPH8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPHOSPH8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,22275849,22275850,TG,-,P432157_F,FGF9,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,FGF9,NM_002010:c.*275_*276delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr13,77900524,77900524,-,CA,P432157_F,MYCBP2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MYCBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24439567,24439567,C,-,P432157_F,DHRS4L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHRS4L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,38276504,38276505,TC,-,P432157_F,TTC6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,55231286,55231286,-,T,P432157_F,SAMD4A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAMD4A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69920240,69920240,A,-,P432157_F,SLC39A9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88454870,88454870,A,-,P432157_F,GALC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,95088656,95088656,-,T,P432157_F,SERPINA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SERPINA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,23606318,23606318,-,TTC,P432157_F,GOLGA8S,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,GOLGA8S,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,34529488,34529488,-,T,P432157_F,SLC12A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,37265002,37265002,-,T,P432157_F,MEIS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,70963357,70963357,A,-,P432157_F,UACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75309171,75309171,T,-,P432157_F,SCAMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78585309,78585309,T,-,P432157_F,WDR61,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR61,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,3077711,3077711,T,-,P432157_F,BICDL2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BICDL2;THOC6,NM_001369667:c.*396delA;NM_001103175:c.*396delA;NM_001347703:c.*53delT;NM_024339:c.*53delT;NM_001347704:c.*53delT;NM_001142350:c.*53delT,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24557619,24557619,-,T,P432157_F,RBBP6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBBP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,24922488,24922488,A,-,P432157_F,SLC5A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC5A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30997234,30997236,GAT,-,P432157_F,HSD3B7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HSD3B7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,55844926,55844926,-,C,P432157_F,CES1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CES1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56892214,56892214,T,-,P432157_F,MIR138-2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR138-2,dist=216,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84797632,84797632,T,-,P432157_F,USP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,89757692,89757692,A,-,P432157_F,CDK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10414267,10414267,A,-,P432157_F,MYHAS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17716448,17716448,T,-,P432157_F,SREBF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SREBF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27004563,27004563,-,A,P432157_F,SUPT6H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPT6H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27050925,27050926,AT,-,P432157_F,RPL23A,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,RPL23A,NM_000984:c.*26_*27delAT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4311683,4311683,A,-,P432157_F,FSD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13445408,13445411,TGTG,-,P432157_F,CACNA1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CACNA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,14952707,14952708,AG,-,P432157_F,OR7A10,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,OR7A10,dist=18,NA,NA,NA,NA,NA,NA,NA,NA
chr19,18180722,18180722,-,T,P432157_F,IL12RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL12RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38714688,38714689,CA,-,P432157_F,DPF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39973300,39973300,A,-,P432157_F,TIMM50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TIMM50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25900322,25900322,-,AAA,P432157_F,LOC101926935,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,LOC101926935;LINC01733,dist=65665;dist=36126,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909694,10909698,GCGAA,-,P432157_F,TPTE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,35094850,35094850,T,-,P432157_F,ITSN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITSN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,35231209,35231209,T,-,P432157_F,ITSN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITSN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,16914284,16914284,C,-,P432157_F,OR11H1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR11H1;CCT8L2,dist=464480;dist=157357,NA,NA,NA,NA,NA,NA,NA,NA
chr22,43088365,43088365,-,C,P432157_F,A4GALT,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,A4GALT,NM_001318038:c.*530_*531insG;NM_017436:c.*530_*531insG,NA,NA,NA,NA,NA,NA,NA,NA
chrX,48661516,48661516,T,-,P432157_F,HDAC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HDAC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,106109284,106109284,A,-,P432157_F,TBC1D8B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D8B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,5873690,5873692,GAG,-,P432157_S,AJAP1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,AJAP1;MIR4689,dist=1021108;dist=49040,NA,NA,NA,NA,NA,NA,NA,NA
chr1,22030891,22030891,-,A,P432157_S,USP48,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP48,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24175456,24175456,T,-,P432157_S,FUCA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FUCA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26601774,26601774,-,T,P432157_S,CEP85,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP85,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,43664319,43664319,-,A,P432157_S,CFAP57,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,CFAP57,NM_001167965:exon8:c.1428+2->A;NM_152498:exon8:c.1428+2->A;NM_001195831:exon8:c.1428+2->A,NA,NA,NA,NA,NA,NA,NA,NA
chr1,50610038,50610038,A,-,P432157_S,ELAVL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ELAVL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,104077272,104077272,T,-,P432157_S,RNPC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,166961911,166961911,-,T,P432157_S,MAEL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAEL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186300536,186300536,A,-,P432157_S,TPR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7421610,7421611,TG,-,P432157_S,LOC101929452,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC101929452;LOC100506274,dist=203599;dist=139781,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10187765,10187765,T,-,P432157_S,KLF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,26486167,26486167,A,-,P432157_S,HADHB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HADHB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27911547,27911547,-,T,P432157_S,SLC4A1AP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A1AP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,29149314,29149314,-,A,P432157_S,WDR43,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR43,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55559652,55559652,A,-,P432157_S,CCDC88A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC88A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,70187726,70187726,-,C,P432157_S,ASPRV1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ASPRV1,NM_152792:c.*62_*63insG,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85788402,85788402,A,-,P432157_S,GGCX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GGCX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,101627344,101627344,A,-,P432157_S,RPL31,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPL31;TBC1D8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,157370019,157370019,T,-,P432157_S,GPD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,165694013,165694013,A,-,P432157_S,COBLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COBLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,204193211,204193213,GAG,-,P432157_S,ABI2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,ABI2,NM_001282932:c.-47528_-47526del-;NM_001282926:c.-27_-25del-;NM_005759:c.-27_-25del-;NM_001282925:c.-27_-25del-,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215013778,215013787,TATATATATA,-,P432157_S,SPAG16,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPAG16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,223158425,223158426,CT,-,P432157_S,PAX3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,PAX3,NM_013942:c.*17_*16delAG;NM_000438:c.*399_*398delAG,NA,NA,NA,NA,NA,NA,NA,NA
chr2,225751257,225751257,A,-,P432157_S,DOCK10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,32859515,32859517,CTC,-,P432157_S,TRIM71,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TRIM71,NM_001039111:c.-58_-56del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,49067797,49067797,-,A,P432157_S,QRICH1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,QRICH1,NM_198880:c.*87_*88insT;NM_001320585:c.*87_*88insT;NM_001320584:c.*87_*88insT;NM_001320583:c.*87_*88insT;NM_001320582:c.*87_*88insT;NM_001320581:c.*87_*88insT;NM_001320580:c.*87_*88insT;NM_017730:c.*87_*88insT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,105270851,105270851,T,-,P432157_S,ALCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121527903,121527903,-,T,P432157_S,IQCB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQCB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,139292814,139292814,-,A,P432157_S,LOC100507291,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100507291,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141906447,141906447,A,-,P432157_S,GK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,157296326,157296327,AT,-,P432157_S,SLC66A1L,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,SLC66A1L,NM_001243729:c.*253_*254delAT;NM_001099777:c.*204_*205delAT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160131237,160131237,T,-,P432157_S,TRIM59-IFT80,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TRIM59-IFT80,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170109113,170109113,T,-,P432157_S,SKIL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKIL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170736123,170736123,T,-,P432157_S,SLC2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,41941779,41941779,T,-,P432157_S,TMEM33,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM33,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,99824511,99824511,-,T,P432157_S,EIF4E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113551181,113551181,-,A,P432157_S,ZGRF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZGRF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120423686,120423686,-,A,P432157_S,PDE5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146031237,146031237,T,-,P432157_S,ABCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,164450256,164450256,T,-,P432157_S,MARCHF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MARCHF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,86629062,86629062,T,-,P432157_S,CCNH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNH;RASA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,95414793,95414793,-,A,P432157_S,LOC101929710,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929710,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112119656,112119656,T,-,P432157_S,APC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,115628121,115628121,T,-,P432157_S,COMMD10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COMMD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,125919529,125919529,-,A,P432157_S,ALDH7A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALDH7A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,99791136,99791136,-,ATTACCA,P432157_S,FAXC,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FAXC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,105228157,105228158,AC,-,P432157_S,HACE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HACE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136710670,136710670,A,-,P432157_S,MAP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136900948,136900948,A,-,P432157_S,MAP3K5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,155728422,155728422,-,A,P432157_S,NOX3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NOX3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2303068,2303068,C,-,P432157_S,SNX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,34097444,34097445,AC,-,P432157_S,BMPER,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BMPER,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,48232530,48232530,-,T,P432157_S,ABCA13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100212387,100212387,A,-,P432157_S,MOSPD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOSPD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,146471539,146471540,AT,-,P432157_S,CNTNAP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CNTNAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38975581,38975581,T,-,P432157_S,ADAM32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,126059686,126059686,-,T,P432157_S,WASHC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASHC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,6620484,6620484,A,-,P432157_S,GLDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75315630,75315635,ATATAT,-,P432157_S,TMC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,107510395,107510395,C,-,P432157_S,NIPSNAP3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPSNAP3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139657679,139657679,A,-,P432157_S,LCN15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCN15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14572299,14572299,A,-,P432157_S,FAM107B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM107B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15828686,15828686,A,-,P432157_S,MINDY3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MINDY3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,61897131,61897131,-,TA,P432157_S,ANK3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ANK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75135834,75135834,A,-,P432157_S,ANXA7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANXA7,NM_001320879:c.*19delT;NM_001320880:c.*19delT;NM_004034:c.*19delT;NM_001156:c.*19delT,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75185419,75185419,-,A,P432157_S,MSS51,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MSS51,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,135140011,135140011,A,-,P432157_S,CALY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18257511,18257511,-,A,P432157_S,SAA2-SAA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAA2-SAA4;SAA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,32852020,32852020,T,-,P432157_S,PRRG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRRG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60506192,60506192,A,-,P432157_S,MS4A18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MS4A18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,61731463,61731463,A,-,P432157_S,BEST1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BEST1,NM_001363592:c.*1732delA;NM_001139443:c.*842delA;NM_001363591:c.*842delA;NM_001363593:c.*842delA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,68675469,68675469,T,-,P432157_S,IGHMBP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGHMBP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108409917,108409917,-,A,P432157_S,EXPH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXPH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118875473,118875473,A,-,P432157_S,CCDC84,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119148322,119148322,-,T,P432157_S,CBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,123755106,123755107,AT,-,P432157_S,TMEM225,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMEM225,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54910235,54910235,T,-,P432157_S,NCKAP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57929244,57929245,AC,-,P432157_S,DCTN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DCTN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66245442,66245444,AAC,-,P432157_S,HMGA2-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,HMGA2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,78538715,78538728,AAAAAAAAAAAAAG,-,P432157_S,NAV3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NAV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81009908,81009909,AT,-,P432157_S,PTPRQ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112491482,112491482,-,A,P432157_S,NAA25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52935191,52935191,-,A,P432157_S,LINC02333,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC02333;THSD1,dist=19173;dist=16112,NA,NA,NA,NA,NA,NA,NA,NA
chr13,101726039,101726039,-,A,P432157_S,NALCN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NALCN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,38261457,38261457,-,T,P432157_S,TTC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50802640,50802640,A,-,P432157_S,CDKL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74875955,74875955,-,T,P432157_S,SYNDIG1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNDIG1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76420882,76420882,T,-,P432157_S,TTLL5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TTLL5,NM_015072:c.*93delT,NA,NA,NA,NA,NA,NA,NA,NA
chr15,42805102,42805102,-,T,P432157_S,SNAP23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNAP23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,70995332,70995332,A,-,P432157_S,UACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75309171,75309171,T,-,P432157_S,SCAMP5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAMP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,258008,258008,A,-,P432157_S,LUC7L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LUC7L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,7759461,7759461,T,-,P432157_S,RBFOX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBFOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11073153,11073154,TC,-,P432157_S,CLEC16A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CLEC16A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,65025496,65025498,TTG,-,P432157_S,CDH11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69996625,69996625,-,C,P432157_S,CLEC18A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLEC18A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74422837,74422838,GA,-,P432157_S,NPIPB15,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NPIPB15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84797632,84797632,T,-,P432157_S,USP10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7080112,7080113,CA,-,P432157_S,ASGR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ASGR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9801300,9801301,TG,-,P432157_S,RCVRN,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,RCVRN,NM_002903:c.*112_*111delCA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10317165,10317165,T,-,P432157_S,MYHAS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26633345,26633345,-,T,P432157_S,KRT18P55,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,KRT18P55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,26922309,26922310,GT,-,P432157_S,SPAG5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPAG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27816600,27816600,A,-,P432157_S,TAOK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TAOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30322882,30322882,A,-,P432157_S,SUZ12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUZ12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36731050,36731050,A,-,P432157_S,SRCIN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRCIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45105632,45105632,T,-,P432157_S,RPRML,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RPRML;ARL17A,dist=49013;dist=3320,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47013394,47013394,T,-,P432157_S,SNF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56582013,56582013,-,A,P432157_S,MTMR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58289532,58289532,-,A,P432157_S,USP32,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP32,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,59147196,59147196,A,-,P432157_S,BCAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3597090,3597090,T,-,P432157_S,DLGAP1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,DLGAP1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29450471,29450471,A,-,P432157_S,TRAPPC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4311683,4311683,A,-,P432157_S,FSD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5727207,5727207,A,-,P432157_S,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8434340,8434340,T,-,P432157_S,ANGPTL4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANGPTL4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39667515,39667515,T,-,P432157_S,PAK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,46257302,46257302,-,CATCT,P432157_S,BHMG1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,BHMG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,10909694,10909698,GCGAA,-,P432157_S,TPTE,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPTE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,16914284,16914284,C,-,P432157_S,OR11H1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,OR11H1;CCT8L2,dist=464480;dist=157357,NA,NA,NA,NA,NA,NA,NA,NA
chrX,10090539,10090540,GT,-,P432157_S,WWC3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WWC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15682932,15682932,A,-,P432157_S,CLTRN,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CLTRN,dist=4,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41047083,41047083,T,-,P432157_S,USP9X,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP9X,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,109387871,109387871,T,-,P432157_S,TMEM164,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM164,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,133512257,133512257,T,-,P432157_S,PHF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110091214,110091216,TTC,-,R001_F,GNAI3,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,GNAI3,dist=21,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173490616,173490616,-,TATATA,R001_F,SLC9C2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SLC9C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206515352,206515352,A,-,R001_F,SRGAP2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SRGAP2,dist=848,NA,NA,NA,NA,NA,NA,NA,NA
chr2,116535070,116535071,CA,-,R001_F,DPP10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,115342291,115342291,-,GA,R001_F,GAP43,5'Flank,NA,NA,NA,NA,INS,SNVindel,upstream,GAP43,dist=66,NA,NA,NA,NA,NA,NA,NA,NA
chr4,101947020,101947020,-,GT,R001_F,PPP3CA,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,PPP3CA,NM_001130692:c.*1_*2insAC;NM_000944:c.*1_*2insAC;NM_001130691:c.*1_*2insAC,NA,NA,NA,NA,NA,NA,NA,NA
chr5,78373252,78373252,A,-,R001_F,BHMT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BHMT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,88416256,88416257,AC,-,R001_F,MEF2C-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,MEF2C-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,178409694,178409694,A,-,R001_F,GRM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,41766818,41766821,TTAT,-,R001_F,USP49,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,USP49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43237722,43237722,G,-,R001_F,TTBK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTBK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,102124471,102124471,T,-,R001_F,GRIK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRIK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,110423573,110423573,-,A,R001_F,WASF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WASF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5172045,5172045,-,G,R001_F,ZNF890P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,ZNF890P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129913535,129913535,G,-,R001_F,CPA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,135301522,135301522,A,-,R001_F,NUP205,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP205,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121426426,121426427,GT,-,R001_F,MRPL13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MRPL13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79966170,79966170,T,-,R001_F,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,77692786,77692789,TTTA,-,R001_F,INTS4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,INTS4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118253635,118253635,T,-,R001_F,LOC100131626,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100131626,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15101035,15101036,CA,-,R001_F,ARHGDIB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGDIB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56504144,56504144,A,-,R001_F,PA2G4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PA2G4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105501419,105501438,CCCAGGGGCCCCCGCGGTCG,-,R001_F,LOC414300,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,LOC414300,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112119388,112119388,A,-,R001_F,BRAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133764791,133764791,T,-,R001_F,ZNF268,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF268,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,115039276,115039276,A,-,R001_F,MIR4502,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR4502,dist=27,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39602850,39602850,T,-,R001_F,GEMIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEMIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,96876311,96876311,A,-,R001_F,NR2F2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR2F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61908056,61908056,T,-,R001_F,PSMC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,28654582,28654582,A,-,R001_F,DSC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DSC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4210401,4210401,-,A,R001_F,ANKRD24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16506013,16506013,A,-,R001_F,EPS15L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS15L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42407100,42407100,T,-,R001_F,ARHGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,442846,442846,-,CT,R001_F,TBC1D20,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TBC1D20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,32161763,32161763,T,-,R001_F,CBFA2T2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CBFA2T2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,17250089,17250089,T,-,R001_F,USP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47720794,47720794,A,-,R001_F,C21orf58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C21orf58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21341678,21341678,A,-,R001_F,LZTR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LZTR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54117673,54117673,A,-,R001_F,FAM120C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM120C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62613787,62613788,TG,-,R001_S,PATJ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110091214,110091216,TTC,-,R001_S,GNAI3,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,GNAI3,dist=21,NA,NA,NA,NA,NA,NA,NA,NA
chr1,206515352,206515352,A,-,R001_S,SRGAP2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SRGAP2,dist=848,NA,NA,NA,NA,NA,NA,NA,NA
chr3,36915520,36915521,TA,-,R001_S,TRANK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,30010489,30010490,AT,-,R001_S,LINC02472,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC02472;PCDH7,dist=787706;dist=711501,NA,NA,NA,NA,NA,NA,NA,NA
chr4,101947020,101947020,-,GT,R001_S,PPP3CA,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,PPP3CA,NM_001130692:c.*1_*2insAC;NM_000944:c.*1_*2insAC;NM_001130691:c.*1_*2insAC,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27099962,27099962,A,-,R001_S,HIST1H2AG,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,HIST1H2AG;HIST1H2BJ,dist=133;dist=133,NA,NA,NA,NA,NA,NA,NA,NA
chr6,43237722,43237722,G,-,R001_S,TTBK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTBK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,56466983,56466983,A,-,R001_S,DST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6036848,6036848,A,-,R001_S,PMS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PMS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,86042371,86042371,T,-,R001_S,LRRCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100833442,100833442,A,-,R001_S,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79966170,79966170,T,-,R001_S,VPS13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67787367,67787368,CT,-,R001_S,ALDH3B1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ALDH3B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80648804,80648804,T,-,R001_S,OTOGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTOGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,48954283,48954283,T,-,R001_S,RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39602850,39602850,T,-,R001_S,GEMIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GEMIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,69861463,69861463,A,-,R001_S,ERH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7311532,7311532,G,-,R001_S,NLGN2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NLGN2,NM_020795:c.-43del-,NA,NA,NA,NA,NA,NA,NA,NA
chr18,47918723,47918723,T,-,R001_S,SKA1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SKA1,NM_001039535:c.*106delT;NM_145060:c.*106delT,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61078577,61078577,T,-,R001_S,VPS4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42407100,42407100,T,-,R001_S,ARHGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,2597211,2597214,AAAG,-,R001_S,TMC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18414186,18414186,A,-,R001_S,DZANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DZANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,21341678,21341678,A,-,R001_S,LZTR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LZTR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19024427,19024427,A,-,R001_S,ADGRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,8029501,8029501,G,-,R002_F,PARK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,33820734,33820734,A,-,R002_F,FAM98A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM98A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61552411,61552411,-,A,R002_F,USP34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201277012,201277012,T,-,R002_F,SPATS2L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATS2L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,48720448,48720448,G,-,R002_F,NCKIPSD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKIPSD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,63849474,63849476,GCG,-,R002_F,THOC7,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,THOC7,NM_025075:c.-8_-10delCGC;NM_001285387:c.-25318_-25320delCGC,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111993692,111993692,C,-,R002_F,SLC9C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185867774,185867775,TG,-,R002_F,DGKG,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,DGKG,NM_001080744:c.*105_*104delCA;NM_001080745:c.*105_*104delCA;NM_001346:c.*105_*104delCA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,16900215,16900216,CA,-,R002_F,LDB2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,LDB2,NM_001304435:c.-107_-108delTG;NM_001130834:c.-107_-108delTG;NM_001304434:c.-107_-108delTG;NM_001290:c.-107_-108delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78815273,78815273,T,-,R002_F,MRPL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MRPL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,169604081,169604081,A,-,R002_F,PALLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PALLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14601042,14601046,TTTTT,-,R002_F,OTULINL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OTULINL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137055990,137055990,A,-,R002_F,KLHL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,72091267,72091267,-,TA,R002_F,MIR30C2,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,MIR30C2;MIR30A,dist=4533;dist=21987,NA,NA,NA,NA,NA,NA,NA,NA
chr6,128561077,128561078,CA,-,R002_F,PTPRK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,14027867,14027867,-,CA,R002_F,ETV1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ETV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95864045,95864045,A,-,R002_F,SLC25A13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11708347,11708347,-,CTTCCC,R002_F,CTSB,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CTSB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,100871751,100871751,-,T,R002_F,VPS13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,334750,334750,A,-,R002_F,DOCK8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,80343588,80343588,A,-,R002_F,GNAQ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNAQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114985973,114985973,A,-,R002_F,PTBP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTBP3,NM_001163790:c.*158delT;NM_001244896:c.*158delT;NM_001244898:c.*158delT;NM_001163788:c.*158delT;NM_005156:c.*158delT,NA,NA,NA,NA,NA,NA,NA,NA
chr10,101829687,101829687,T,-,R002_F,CPN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,1013783,1013783,C,-,R002_F,MUC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MUC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,3046966,3046966,A,-,R002_F,TULP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TULP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57573103,57573103,G,-,R002_F,LRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,97158794,97158797,ATAG,-,R002_F,CFAP54,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CFAP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104131385,104131387,TTT,-,R002_F,STAB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,28980037,28980037,A,-,R002_F,FLT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,49848636,49848636,A,-,R002_F,CDADC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDADC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77333543,77333543,G,-,R002_F,LRRC74A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC74A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,94841381,94841381,T,-,R002_F,MCTP2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MCTP2,dist=49,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4622025,4622025,A,-,R002_F,ARRB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,19744866,19744866,A,-,R002_F,ULK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ULK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,36626189,36626189,G,-,R002_F,ARHGAP23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42284469,42284469,T,-,R002_F,UBTF,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UBTF,NM_001076684:c.*141delA;NM_014233:c.*141delA;NM_001076683:c.*141delA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66904032,66904032,A,-,R002_F,ABCA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,44424652,44424652,T,-,R002_F,PIAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5708480,5708480,-,G,R002_F,LONP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LONP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47913120,47913120,A,-,R002_F,MEIS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MEIS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3313106,3313106,T,-,R002_F,C20orf194,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C20orf194,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,16362790,16362791,GA,-,R002_F,KIF16B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KIF16B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,38570055,38570055,-,A,R002_F,TTC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,60780422,60780424,GGC,-,R002_S,BCL11A,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,BCL11A,NM_138559:c.-17_-19delGCC;NM_018014:c.-17_-19delGCC;NM_001363864:c.-17_-19delGCC;NM_001365609:c.-17_-19delGCC;NM_022893:c.-17_-19delGCC,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85922269,85922278,AGAGTGGGTC,-,R002_S,GNLY,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GNLY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,56696635,56696635,A,-,R002_S,TASOR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TASOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108182169,108182169,T,-,R002_S,MYH15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111993692,111993692,C,-,R002_S,SLC9C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC9C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138668234,138668235,GT,-,R002_S,FOXL2NB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FOXL2NB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,190930559,190930559,-,TT,R002_S,OSTN,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,OSTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,147628706,147628706,A,-,R002_S,TTC29,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC29,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,72091267,72091267,-,TA,R002_S,MIR30C2,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,MIR30C2;MIR30A,dist=4533;dist=21987,NA,NA,NA,NA,NA,NA,NA,NA
chr7,14027867,14027867,-,CA,R002_S,ETV1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ETV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,145601337,145601338,TA,-,R002_S,TPK1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,TPK1;CNTNAP2,dist=1068191;dist=870025,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150720108,150720108,G,-,R002_S,ATG9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,11708347,11708347,-,CTTCCC,R002_S,CTSB,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CTSB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,38138964,38138964,A,-,R002_S,NSD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NSD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42295131,42295131,T,-,R002_S,SLC20A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC20A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141445069,141445069,A,-,R002_S,TRAPPC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,127951072,127951072,-,AATAAT,R002_S,PPP6C,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PPP6C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139275421,139275421,G,-,R002_S,SNAPC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNAPC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,1038340,1038340,A,-,R002_S,GTPBP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTPBP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,102035183,102035183,A,-,R002_S,BLOC1S2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,BLOC1S2,NM_001001342:c.*36delT;NM_001282438:c.*36delT;NM_001282436:c.*36delT;NM_001282437:c.*36delT;NM_001282439:c.*36delT;NM_173809:c.*36delT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64622399,64622400,CA,-,R002_S,EHD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,93461791,93461793,GTT,-,R002_S,CEP295,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CEP295,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,32753527,32753527,T,-,R002_S,FGD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FGD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57573103,57573103,G,-,R002_S,LRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,64746630,64746630,T,-,R002_S,C12orf56,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C12orf56,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,69978634,69978634,A,-,R002_S,CCT2,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CCT2;MIR3913-1;MIR3913-2,dist=605;dist=31,NA,NA,NA,NA,NA,NA,NA,NA
chr12,97158794,97158797,ATAG,-,R002_S,CFAP54,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CFAP54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,24522810,24522811,TC,-,R002_S,CARMIL3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CARMIL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14749081,14749081,T,-,R002_S,BFAR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BFAR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1542822,1542822,G,-,R002_S,SCARF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCARF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10411334,10411334,-,TG,R002_S,MYHAS,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42284469,42284469,T,-,R002_S,UBTF,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UBTF,NM_001076684:c.*141delA;NM_014233:c.*141delA;NM_001076683:c.*141delA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1383863,1383863,C,-,R002_S,NDUFS7,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,NDUFS7,dist=43,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6436561,6436561,T,-,R002_S,SLC25A41,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLC25A41;SLC25A23,dist=2787;dist=3514,NA,NA,NA,NA,NA,NA,NA,NA
chr20,825318,825318,-,T,R002_S,FAM110A,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,FAM110A,NM_031424:c.-130_-129insT,NA,NA,NA,NA,NA,NA,NA,NA
chr20,4055695,4055695,C,-,R002_S,RNF24,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,RNF24;SMOX,dist=59490;dist=73731,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48500764,48500764,-,ACG,R002_S,SLC9A8,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SLC9A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34809434,34809434,T,-,R002_S,IFNGR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IFNGR2,NM_001329128:c.*165delT;NM_005534:c.*165delT,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40782914,40782914,G,-,R002_S,LCA5L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCA5L;WRB-SH3BGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,17090902,17090902,-,T,R003_F,MST1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MST1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,57349141,57349141,T,-,R003_F,C8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,95367379,95367380,AG,-,R003_F,CNN3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CNN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100609792,100609806,TCTTATGTTTACAAC,-,R003_F,TRMT13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRMT13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61552411,61552411,-,A,R003_F,USP34,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP34,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,223505795,223505795,A,-,R003_F,FARSB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FARSB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,111304091,111304092,AC,-,R003_F,CD96,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CD96,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100513028,100513029,TG,-,R003_F,MTTP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MTTP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1160346,1160349,AAAC,-,R003_F,SLC12A7,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,SLC12A7;CTD-3080P12.3,dist=48168;dist=12862,NA,NA,NA,NA,NA,NA,NA,NA
chr6,7402814,7402814,T,-,R003_F,RIOK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136590359,136590359,T,-,R003_F,BCLAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCLAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2309159,2309159,A,-,R003_F,SNX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,98446425,98446425,-,T,R003_F,TMEM130,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM130,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71851430,71851431,AA,-,R003_F,H2AFY2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,H2AFY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,78704774,78704775,AG,-,R003_F,KCNMA1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,KCNMA1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,90034668,90034668,A,-,R003_F,RNLS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RNLS,NM_018363:c.*50delT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117772788,117772791,CACA,-,R003_F,TMPRSS13,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,TMPRSS13,NM_001206789:c.*166_*163delTGTG;NM_001077263:c.*166_*163delTGTG,NA,NA,NA,NA,NA,NA,NA,NA
chr12,29423271,29423272,AG,-,R003_F,FAR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104181037,104181037,A,-,R003_F,NT5DC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NT5DC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,107080618,107080618,T,-,R003_F,LOC100287944,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100287944,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111349075,111349075,G,-,R003_F,MYL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,5517198,5517198,T,-,R003_F,EEF2KMT,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,EEF2KMT;LINC01570,dist=369377;dist=133972,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31388634,31388634,-,A,R003_F,ITGAX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81118208,81118208,A,-,R003_F,GCSH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GCSH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4859771,4859771,C,-,R003_F,PLIN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLIN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,7965904,7965904,-,GG,R003_F,LRRC8E,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,LRRC8E,NM_001268284:c.*106_*107insGG;NM_001268285:c.*106_*107insGG;NM_025061:c.*106_*107insGG,NA,NA,NA,NA,NA,NA,NA,NA
chr19,22116051,22116051,A,-,R003_F,ZNF43,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,ZNF43;ZNF208,dist=81181;dist=6517,NA,NA,NA,NA,NA,NA,NA,NA
chr20,11900283,11900283,T,-,R003_F,BTBD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTBD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18476306,18476307,AG,-,R003_F,RBBP9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RBBP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,62624622,62624623,TA,-,R003_F,PRPF6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRPF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47720794,47720794,A,-,R003_F,C21orf58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C21orf58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19455704,19455704,A,-,R003_S,UBR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,234509928,234509928,C,-,R003_S,COA6,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,COA6,NM_001301733:c.-64del-,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235596232,235596232,T,-,R003_S,TBCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,136527319,136527319,T,-,R003_S,UBXN4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBXN4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,30075522,30075523,TA,-,R003_S,LINC02472,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC02472;PCDH7,dist=852739;dist=646468,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37349161,37349161,T,-,R003_S,NUP155,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24818984,24818984,A,-,R003_S,RIPOR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RIPOR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,21892024,21892024,A,-,R003_S,DNAH11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,29062288,29062288,A,-,R003_S,KIF13B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114994246,114994247,AG,-,R003_S,PTBP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23858272,23858272,G,-,R003_S,MYH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31388634,31388634,-,A,R003_S,ITGAX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67152160,67152160,A,-,R003_S,ABCA10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,19119814,19119814,A,-,R003_S,ESCO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESCO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,57929214,57929214,A,-,R003_S,ZNF17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47720794,47720794,A,-,R003_S,C21orf58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C21orf58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,69247673,69247673,A,-,R003_S,EDA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,138698653,138698653,A,-,R003_S,MCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,57349141,57349141,T,-,R004_F,C8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144919009,144919009,C,-,R004_F,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,151535021,151535022,TC,-,R004_F,TUFT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TUFT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,7329503,7329504,AA,-,R004_F,LOC101929452,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LOC101929452;LOC100506274,dist=111492;dist=231888,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162890197,162890197,A,-,R004_F,DPP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,167266591,167266594,AAAC,-,R004_F,SCN7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SCN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202009569,202009569,-,T,R004_F,CFLAR-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,CFLAR-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20884203,20884203,A,-,R004_F,KCNIP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KCNIP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,47644240,47644240,A,-,R004_F,CORIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CORIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,77871187,77871187,-,GCG,R004_F,SEPTIN11,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SEPTIN11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37687844,37687844,T,-,R004_F,WDR70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32914565,32914568,AGAG,-,R004_F,KBTBD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KBTBD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,50800100,50800100,-,A,R004_F,GRB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,116414934,116414934,G,-,R004_F,MET,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MET,NM_001127500:exon15:c.3083-1G>-;NM_000245:exon15:c.3029-1G>-;NM_001324402:exon14:c.1739-1G>-,NA,NA,NA,NA,NA,NA,NA,NA
chr8,23104095,23104095,G,-,R004_F,CHMP7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CHMP7,NM_152272:c.-114del-,NA,NA,NA,NA,NA,NA,NA,NA
chr8,25240127,25240127,T,-,R004_F,DOCK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,28628715,28628715,-,T,R004_F,INTS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,INTS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,22217939,22217939,-,AT,R004_F,DNAJC1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DNAJC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105992012,105992012,G,-,R004_F,CFAP43,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CFAP43,NM_025145:c.-8delC,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49229489,49229492,AAAC,-,R004_F,FOLH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FOLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,73610162,73610162,A,-,R004_F,PAAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PAAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,126968230,126968231,CA,-,R004_F,LOC101929473,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC101929473,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,80760292,80760293,TA,-,R004_F,OTOGL,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,OTOGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,118519823,118519828,AAAAAA,-,R004_F,VSIG10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VSIG10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41071868,41071868,A,-,R004_F,DNAJC17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43498480,43498481,TG,-,R004_F,EPB42,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPB42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31106653,31106653,A,-,R004_F,VKORC1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,VKORC1,dist=333,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4880232,4880232,A,-,R004_F,CAMTA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAMTA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7311532,7311532,G,-,R004_F,NLGN2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,NLGN2,NM_020795:c.-43del-,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47000129,47000129,A,-,R004_F,UBE2Z,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2Z,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62587007,62587007,T,-,R004_F,SMURF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMURF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23650647,23650649,TCT,-,R004_F,LINC01224,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC01224;ZNF675,dist=51771;dist=184954,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23650659,23650664,CTTCTT,-,R004_F,LINC01224,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC01224;ZNF675,dist=51783;dist=184939,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23650676,23650679,TCTC,-,R004_F,LINC01224,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC01224;ZNF675,dist=51800;dist=184924,NA,NA,NA,NA,NA,NA,NA,NA
chr19,23650713,23650715,CCT,-,R004_F,LINC01224,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC01224;ZNF675,dist=51837;dist=184888,NA,NA,NA,NA,NA,NA,NA,NA
chr20,43374840,43374840,C,-,R004_F,KCNK15-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,KCNK15-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,44918222,44918222,T,-,R004_F,KDM6A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM6A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3477415,3477418,GGCT,-,R004_S,MEGF6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MEGF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27609630,27609630,A,-,R004_S,WDTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,167266591,167266594,AAAC,-,R004_S,SCN7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SCN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,11599950,11599950,T,-,R004_S,VGLL4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,VGLL4,NM_001284391:c.*80delA;NM_001284390:c.*80delA;NM_014667:c.*80delA;NM_001128219:c.*80delA;NM_001128220:c.*80delA;NM_001128221:c.*80delA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,133969656,133969658,CGC,-,R004_S,RYK,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,RYK,dist=70,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160219811,160219812,TA,-,R004_S,KPNA4,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,KPNA4,NM_002268:c.*81_*80delTA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,10543503,10543503,-,T,R004_S,CLNK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLNK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,4420509,4420510,TG,-,R004_S,IRX1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,IRX1;LINC02114,dist=818992;dist=353084,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32914565,32914568,AGAG,-,R004_S,KBTBD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KBTBD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,56088951,56088951,A,-,R004_S,PSPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100612767,100612779,TGTCCAGGCACTT,-,R004_S,MUC12,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MUC12,dist=125,NA,NA,NA,NA,NA,NA,NA,NA
chr7,116414934,116414934,G,-,R004_S,MET,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,MET,NM_001127500:exon15:c.3083-1G>-;NM_000245:exon15:c.3029-1G>-;NM_001324402:exon14:c.1739-1G>-,NA,NA,NA,NA,NA,NA,NA,NA
chr8,23104095,23104095,G,-,R004_S,CHMP7,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CHMP7,NM_152272:c.-114del-,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67969692,67969714,ATATATTTAATATCTGCTGATAT,-,R004_S,COPS5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COPS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110505867,110505867,T,-,R004_S,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49229489,49229492,AAAC,-,R004_S,FOLH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FOLH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,41071868,41071868,A,-,R004_S,DNAJC17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAJC17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,53082264,53082265,GT,-,R004_S,ONECUT1,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,ONECUT1,NM_004498:c.-183_-184delAC,NA,NA,NA,NA,NA,NA,NA,NA
chr16,71054334,71054335,TG,-,R004_S,HYDIN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HYDIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1779213,1779214,AC,-,R004_S,RPA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38451740,38451740,A,-,R004_S,CDC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62587007,62587007,T,-,R004_S,SMURF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMURF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,3543479,3543479,C,-,R004_S,C19orf71,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf71,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19513571,19513574,TATA,-,R005_F,UBR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,34631184,34631185,CA,-,R005_F,CSMD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSMD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,185992421,185992421,T,-,R005_F,HMCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10138939,10138940,TA,-,R005_F,GRHL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37469751,37469754,ATTA,-,R005_F,NDUFAF7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NDUFAF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37494490,37494490,A,-,R005_F,PRKD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,36915520,36915521,TA,-,R005_F,TRANK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,160219838,160219839,AT,-,R005_F,KPNA4,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,KPNA4,NM_002268:c.*54_*53delAT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,168867708,168867713,TCTCTT,-,R005_F,MECOM,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MECOM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39216394,39216394,T,-,R005_F,WDR19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103188865,103188865,-,T,R005_F,SLC39A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36629530,36629530,T,-,R005_F,SLC1A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC1A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55252985,55252985,A,-,R005_F,IL6ST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL6ST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,96341751,96341752,TA,-,R005_F,LNPEP,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LNPEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,34263314,34263314,A,-,R005_F,NUDT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUDT3;RPS10-NUDT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,52733340,52733340,-,T,R005_F,PCMTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCMTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,88292506,88292506,-,A,R005_F,AGTPBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGTPBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,140637805,140637805,T,-,R005_F,EHMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EHMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14709868,14709872,AGTAG,-,R005_F,FAM107B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM107B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,71174637,71174638,AC,-,R005_F,TACR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TACR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,121602280,121602280,T,-,R005_F,MCMBP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCMBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49579784,49579785,AG,-,R005_F,TUBA1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TUBA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50869285,50869285,T,-,R005_F,LARP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,62016388,62016388,T,-,R005_F,PRKCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89878233,89878233,A,-,R005_F,FOXN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,75664693,75664693,A,-,R005_F,SIN3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIN3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,31284619,31284619,A,-,R005_F,ITGAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30773823,30773823,T,-,R005_F,PSMD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,61575167,61575167,T,-,R005_F,SERPINB10,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,SERPINB10,dist=25,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10260007,10260007,A,-,R005_F,DNMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13339418,13339421,AGAT,-,R005_F,CACNA1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CACNA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16625198,16625198,A,-,R005_F,C19orf44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39745845,39745846,AT,-,R005_F,IFNL4,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,IFNL4;IFNL2,dist=6349;dist=13311,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18414186,18414186,A,-,R005_F,DZANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DZANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48472119,48472119,-,T,R005_F,SLC9A8,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SLC9A8,NM_001260491:exon8:c.761+1->T;NM_015266:exon8:c.713+1->T,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117520365,117520365,-,AT,R005_F,MIR1277,RNA,NA,NA,NA,NA,INS,SNVindel,ncRNA_exonic,MIR1277,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,131231431,131231432,AC,-,R005_F,FRMD7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FRMD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10425080,10425080,G,-,R005_S,KIF1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,21307744,21307744,T,-,R005_S,EIF4G3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4G3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,31186225,31186226,CA,-,R005_S,MATN1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MATN1,NM_002379:c.*204_*203delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr1,46096403,46096403,T,-,R005_S,GPBP1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GPBP1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,53108499,53108502,CTGA,-,R005_S,SHISAL2A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SHISAL2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,37469751,37469754,ATTA,-,R005_S,NDUFAF7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NDUFAF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61189735,61189735,T,-,R005_S,PUS10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PUS10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95537872,95537872,C,-,R005_S,LOC442028,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC442028,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179321040,179321040,A,-,R005_S,PJVK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PJVK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,219341718,219341718,A,-,R005_S,USP37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12490146,12490146,-,A,R005_S,PPARG,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,PPARG;TSEN2,dist=14291;dist=35785,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38257568,38257568,T,-,R005_S,OXSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,22449029,22449029,A,-,R005_S,ADGRA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83483587,83483587,T,-,R005_S,TMEM150C,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,TMEM150C,dist=181,NA,NA,NA,NA,NA,NA,NA,NA
chr4,103188865,103188865,-,T,R005_S,SLC39A8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC39A8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,151765384,151765385,TA,-,R005_S,LRBA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LRBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55252985,55252985,A,-,R005_S,IL6ST,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL6ST,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,33625593,33625594,TG,-,R005_S,ITPR3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ITPR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111629000,111629000,T,-,R005_S,REV3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,REV3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,116782956,116782956,A,-,R005_S,CALHM6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALHM6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,52733340,52733340,-,T,R005_S,PCMTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PCMTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,73926356,73926357,GT,-,R005_S,TERF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TERF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,98270325,98270326,GT,-,R005_S,PTCH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,14709868,14709872,AGTAG,-,R005_S,FAM107B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM107B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18318551,18318551,A,-,R005_S,HPS5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HPS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47074091,47074094,TTCC,-,R005_S,C11orf49,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C11orf49,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,107652395,107652395,T,-,R005_S,SLN,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SLN;SLC35F2,dist=69613;dist=9322,NA,NA,NA,NA,NA,NA,NA,NA
chr12,7073185,7073186,CT,-,R005_S,MIR200CHG,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,MIR200CHG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,20852737,20852737,A,-,R005_S,SLCO1C1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO1C1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50869285,50869285,T,-,R005_S,LARP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LARP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,111349075,111349075,G,-,R005_S,MYL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,103303828,103303828,T,-,R005_S,TPP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89878233,89878233,A,-,R005_S,FOXN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30773823,30773823,T,-,R005_S,PSMD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,53014232,53014232,-,TTAAG,R005_S,TOM1L1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TOM1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,60491538,60491538,-,A,R005_S,PHLPP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHLPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10260007,10260007,A,-,R005_S,DNMT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,13339418,13339421,AGAT,-,R005_S,CACNA1A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CACNA1A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,15538857,15538857,C,-,R005_S,WIZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WIZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,33418038,33418041,CCAT,-,R005_S,CEP89,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CEP89,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,39745845,39745846,AT,-,R005_S,IFNL4,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,IFNL4;IFNL2,dist=6349;dist=13311,NA,NA,NA,NA,NA,NA,NA,NA
chr19,41798469,41798470,AC,-,R005_S,HNRNPUL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HNRNPUL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,47700439,47700439,A,-,R005_S,SAE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18414186,18414186,A,-,R005_S,DZANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DZANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,48472119,48472119,-,T,R005_S,SLC9A8,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,SLC9A8,NM_001260491:exon8:c.761+1->T;NM_015266:exon8:c.713+1->T,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47720794,47720794,A,-,R005_S,C21orf58,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C21orf58,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30374873,30374873,T,-,R005_S,MTMR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,50144163,50144163,A,-,R005_S,DGKK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DGKK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,74494611,74494620,GTGTGTGTGT,-,R005_S,UPRT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UPRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,5873750,5873755,GAGGAG,-,R006_F,AJAP1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,AJAP1;MIR4689,dist=1021168;dist=48977,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51924408,51924408,A,-,R006_F,EPS15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPS15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,67666402,67666402,T,-,R006_F,IL23R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL23R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,95537872,95537872,C,-,R006_F,LOC442028,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC442028,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,126352628,126352629,GT,-,R006_F,TXNRD3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TXNRD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128363500,128363500,A,-,R006_F,RPN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,64948479,64948480,TG,-,R006_F,TRAPPC13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRAPPC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,146471539,146471540,AT,-,R006_F,CNTNAP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CNTNAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,123280242,123280242,A,-,R006_F,CDK5RAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDK5RAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,70761003,70761003,A,-,R006_F,SHANK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SHANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,75692447,75692448,CA,-,R006_F,CAPS2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CAPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,123034228,123034228,A,-,R006_F,KNTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,23858272,23858272,G,-,R006_F,MYH6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,45571013,45571013,T,-,R006_F,PRPF39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43109128,43109129,AT,-,R006_F,TTBK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTBK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67670449,67670449,A,-,R006_F,CTCF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTCF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7793748,7793748,A,-,R006_F,CHD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27010446,27010446,C,-,R006_F,SUPT6H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SUPT6H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48657078,48657079,CA,-,R006_F,LIG1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LIG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57899352,57899352,T,-,R006_F,EDN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,11060026,11060026,G,-,R006_F,BAGE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAGE;BAGE2;BAGE3;BAGE4;BAGE5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52878370,52878370,-,T,R006_S,PRPF38A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF38A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,80555199,80555201,TGA,-,R006_S,CTNNA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTNNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,137852389,137852389,T,-,R006_S,THSD7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THSD7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,54925208,54925209,GT,-,R006_S,CACNA2D3-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,CACNA2D3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,56592809,56592809,T,-,R006_S,CCDC66,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC66,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,30010489,30010490,AT,-,R006_S,LINC02472,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC02472;PCDH7,dist=787706;dist=711501,NA,NA,NA,NA,NA,NA,NA,NA
chr4,30075522,30075523,TA,-,R006_S,LINC02472,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC02472;PCDH7,dist=852739;dist=646468,NA,NA,NA,NA,NA,NA,NA,NA
chr4,151682917,151682921,TAAAA,-,R006_S,LRBA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LRBA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17834087,17834087,A,-,R006_S,KIF13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70866387,70866388,GA,-,R006_S,COL19A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL19A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,70249877,70249877,T,-,R006_S,AUTS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AUTS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,88622147,88622149,AAT,-,R006_S,CNBD1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,CNBD1;DCAF4L2,dist=227060;dist=260827,NA,NA,NA,NA,NA,NA,NA,NA
chr9,116153026,116153026,G,-,R006_S,ALAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,11951563,11951563,-,A,R006_S,USP47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,44257709,44257710,GT,-,R006_S,EXT2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EXT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,20333381,20333381,C,-,R006_S,PSPC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSPC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21265474,21265474,C,-,R006_S,IFT88,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IFT88,NM_001353565:c.*160delC;NM_001353572:c.*160delC;NM_001353574:c.*160delC;NM_001353575:c.*287delC;NM_006531:c.*160delC;NM_001353569:c.*160delC;NM_001353579:c.*160delC;NM_001353577:c.*160delC;NM_001353578:c.*160delC;NM_001353573:c.*160delC;NM_001318493:c.*160delC;NM_001318491:c.*160delC;NM_001353568:c.*160delC;NM_001353570:c.*160delC;NM_001353571:c.*160delC;NM_001353567:c.*160delC;NM_001353566:c.*160delC;NM_001353576:c.*160delC;NM_175605:c.*160delC,NA,NA,NA,NA,NA,NA,NA,NA
chr13,25839870,25839870,A,-,R006_S,MTMR6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTMR6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,46357405,46357405,-,A,R006_S,SIAH3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SIAH3,NM_198849:c.*112_*113insT,NA,NA,NA,NA,NA,NA,NA,NA
chr13,61019078,61019078,A,-,R006_S,TDRD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TDRD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43109128,43109129,AT,-,R006_S,TTBK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTBK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45669469,45669472,TTTA,-,R006_S,GATM,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GATM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15984134,15984134,-,A,R006_S,NCOR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCOR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,66928350,66928350,-,A,R006_S,ABCA8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78061732,78061732,-,G,R006_S,CCDC40,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC40,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79967792,79967792,T,-,R006_S,ASPSCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,5739321,5739321,T,-,R006_S,CATSPERD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CATSPERD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,11233671,11233671,G,-,R006_S,LDLR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,42159124,42159130,TGGGTCC,-,R006_S,L3MBTL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,L3MBTL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46722679,46722679,T,-,R006_S,GTSE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTSE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41198266,41198267,TA,-,R006_S,DDX3X,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,DDX3X,NM_001363819:c.-4218_-4217del-,NA,NA,NA,NA,NA,NA,NA,NA
chrX,41646674,41646674,G,-,R006_S,CASK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100375866,100375866,T,-,R006_S,CENPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32110612,32110612,G,-,R007_F,PEF1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PEF1,dist=135,NA,NA,NA,NA,NA,NA,NA,NA
chr1,34631201,34631202,AC,-,R007_F,CSMD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSMD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,57349141,57349141,T,-,R007_F,C8A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103354940,103354941,TG,-,R007_F,COL11A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,117628870,117628871,TG,-,R007_F,TTF2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,207532861,207532861,-,T,R007_F,CD55,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220191930,220191930,-,AA,R007_F,EPRS,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EPRS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,229657221,229657221,A,-,R007_F,ABCB10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCB10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,11348610,11348613,AAAT,-,R007_F,ROCK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ROCK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24392365,24392365,A,-,R007_F,FAM228B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FAM228B,NM_001291328:c.*155delA;NM_001145710:c.*155delA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85133699,85133699,C,-,R007_F,TMSB10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMSB10,NM_021103:c.*152delC,NA,NA,NA,NA,NA,NA,NA,NA
chr3,62257017,62257017,-,C,R007_F,PTPRG-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PTPRG-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,148604872,148604872,T,-,R007_F,PRMT9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRMT9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,152498455,152498456,AC,-,R007_F,FAM160A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM160A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94782516,94782516,-,T,R007_F,FAM81B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM81B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94903576,94903576,T,-,R007_F,ARSK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARSK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137877455,137877455,G,-,R007_F,ETF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ETF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,162944436,162944436,-,GAC,R007_F,MAT2B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MAT2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152532733,152532733,A,-,R007_F,MIR3163,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR3163,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,152629773,152629773,A,-,R007_F,SYNE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYNE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,158613375,158613375,A,-,R007_F,GTF2H5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GTF2H5,NM_207118:c.*186delA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32620325,32620325,-,TG,R007_F,AVL9,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,AVL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151882623,151882624,AG,-,R007_F,KMT2C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,158824765,158824767,AGA,-,R007_F,VIPR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VIPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62371123,62371123,C,-,R007_F,CLVS1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLVS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,67759412,67759412,T,-,R007_F,C8orf44-SGK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C8orf44-SGK3;SGK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,91929653,91929653,A,-,R007_F,NECAB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NECAB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,85926894,85926894,A,-,R007_F,FRMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44107383,44107383,T,-,R007_F,MFAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,84027226,84027229,TGTG,-,R007_F,NECAB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NECAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45234761,45234761,A,-,R007_F,CDC27,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC27,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,55074482,55074482,-,A,R007_F,SCPEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCPEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65119931,65119931,-,TG,R007_F,HELZ,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,HELZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79953982,79953982,A,-,R007_F,ASPSCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,59942587,59942587,T,-,R007_F,RELCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9873821,9873821,A,-,R007_F,ZNF846,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF846,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,13090734,13090734,T,-,R007_F,SPTLC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPTLC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46912658,46912658,-,CCCGCCACTGCCCT,R007_F,COL18A1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,COL18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37532507,37532507,C,-,R007_F,IL2RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,25098336,25098336,A,-,R007_S,CLIC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLIC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32110612,32110612,G,-,R007_S,PEF1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PEF1,dist=135,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62365428,62365428,-,A,R007_S,PATJ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,63091086,63091086,A,-,R007_S,DOCK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,86227122,86227122,-,A,R007_S,COL24A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL24A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,150825758,150825758,A,-,R007_S,ARNT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARNT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183097606,183097608,AAA,-,R007_S,LAMC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LAMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27460464,27460464,C,-,R007_S,CAD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CAD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55187300,55187300,-,A,R007_S,EML6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EML6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85133699,85133699,C,-,R007_S,TMSB10,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMSB10,NM_021103:c.*152delC,NA,NA,NA,NA,NA,NA,NA,NA
chr2,121038290,121038290,-,A,R007_S,RALB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RALB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,33877501,33877501,T,-,R007_S,PDCD6IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDCD6IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,55038999,55038999,A,-,R007_S,CACNA2D3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183679574,183679574,-,T,R007_S,ABCC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,195102591,195102591,T,-,R007_S,ACAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120528525,120528527,TCT,-,R007_S,PDE5A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDE5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,42779686,42779686,-,A,R007_S,CCDC152,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC152,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,109676052,109676052,-,A,R007_S,CCDC162P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,CCDC162P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,158613375,158613375,A,-,R007_S,GTF2H5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GTF2H5,NM_207118:c.*186delA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,24329002,24329002,T,-,R007_S,NPY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,32620325,32620325,-,TG,R007_S,AVL9,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,AVL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,83025925,83025925,-,T,R007_S,SEMA3E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,138434067,138434067,A,-,R007_S,ATP6V0A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V0A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151882623,151882624,AG,-,R007_S,KMT2C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KMT2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,154002659,154002660,GT,-,R007_S,DPP6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPP6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,158824765,158824767,AGA,-,R007_S,VIPR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VIPR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,24359126,24359127,TT,-,R007_S,LOC101929294,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC101929294;LOC101929315,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,101961140,101961140,A,-,R007_S,YWHAZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YWHAZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,114612674,114612674,-,T,R007_S,CSMD3,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CSMD3;TRPS1,dist=163506;dist=1808050,NA,NA,NA,NA,NA,NA,NA,NA
chr9,19357276,19357276,-,TTA,R007_S,DENND4C,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DENND4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,26906080,26906080,A,-,R007_S,PLAA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLAA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,75420449,75420449,T,-,R007_S,TMC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,85926894,85926894,A,-,R007_S,FRMD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,11990247,11990249,AAA,-,R007_S,UPF2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UPF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98412330,98412330,A,-,R007_S,PIK3AP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3AP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17316749,17316749,T,-,R007_S,NUCB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUCB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,117772788,117772789,CA,-,R007_S,TMPRSS13,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,TMPRSS13,NM_001206789:c.*166_*165delTG;NM_001077263:c.*166_*165delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr11,122828265,122828265,T,-,R007_S,JHY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JHY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,49722647,49722647,A,-,R007_S,TROAP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TROAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122738098,122738098,A,-,R007_S,VPS33A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS33A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95278100,95278112,TACTCTAAAGGCC,-,R007_S,GPR180,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GPR180,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,33096715,33096715,T,-,R007_S,FMN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,14026903,14026905,AAA,-,R007_S,ERCC4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ERCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57494403,57494403,A,-,R007_S,COQ9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67200413,67200413,G,-,R007_S,HSF4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSF4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,6511624,6511624,G,-,R007_S,KIAA0753,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0753,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,9282137,9282137,A,-,R007_S,STX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,63532780,63532780,A,-,R007_S,AXIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AXIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65119931,65119931,-,TG,R007_S,HELZ,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,HELZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,8649948,8649948,-,GCAGGGA,R007_S,ADAMTS10,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ADAMTS10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35523347,35523347,G,-,R007_S,SCN1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37681158,37681158,T,-,R007_S,ZNF585B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF585B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,18505564,18505564,T,-,R007_S,SEC23B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC23B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,35209175,35209175,T,-,R007_S,ITSN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITSN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,36708400,36708400,-,A,R007_S,MYH9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYH9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,37532507,37532507,C,-,R007_S,IL2RB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IL2RB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,46664986,46664986,C,-,R007_S,TTC38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,39333119,39333119,A,-,R008_F,GJA9-MYCBP,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,GJA9-MYCBP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156499845,156499846,CA,-,R008_F,IQGAP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IQGAP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179442293,179442293,A,-,R008_F,TTN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TTN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,223339451,223339453,TAT,-,R008_F,SGPP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SGPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,36915520,36915521,TA,-,R008_F,TRANK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,14678763,14678763,T,-,R008_F,OTULIN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTULIN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,102432916,102432917,TG,-,R008_F,GIN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GIN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,170341157,170341157,-,T,R008_F,RANBP17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75614551,75614554,CCAC,-,R008_F,POR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,POR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,124430434,124430435,TA,-,R008_F,C7orf77,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C7orf77,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142626278,142626278,C,-,R008_F,TRPV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145095398,145095398,G,-,R008_F,SPATC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130581220,130581220,T,-,R008_F,LOC102723566,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC102723566,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,5254060,5254060,T,-,R008_F,HBD,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,HBD,dist=8,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64421250,64421250,T,-,R008_F,NRXN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,29592385,29592392,AAACAAAC,-,R008_F,OVCH1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,OVCH1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50531622,50531625,TAGT,-,R008_F,CERS5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CERS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69395141,69395141,-,A,R008_F,TERF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TERF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81236404,81236404,C,-,R008_F,PKD1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKD1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33849139,33849139,A,-,R008_F,SLFN12L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLFN12L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36572252,36572253,TT,-,R008_F,WDR62,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WDR62,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155585136,155585136,A,-,R008_S,MSTO1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MSTO1;MSTO2P,dist=378,NA,NA,NA,NA,NA,NA,NA,NA
chr2,223339451,223339453,TAT,-,R008_S,SGPP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SGPP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44155548,44155548,A,-,R008_S,MIR138-1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR138-1,dist=156,NA,NA,NA,NA,NA,NA,NA,NA
chr4,70707559,70707559,A,-,R008_S,SULT1E1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SULT1E1,NM_005420:c.*153delT,NA,NA,NA,NA,NA,NA,NA,NA
chr4,71521932,71521932,A,-,R008_S,JCHAIN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,JCHAIN,NM_144646:c.*114delT,NA,NA,NA,NA,NA,NA,NA,NA
chr4,81123014,81123015,GT,-,R008_S,PRDM8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRDM8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,170341157,170341157,-,T,R008_S,RANBP17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RANBP17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,11514277,11514278,GC,-,R008_S,THSD7A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,THSD7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,25989733,25989733,A,-,R008_S,MIR148A,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,MIR148A,dist=127,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73605402,73605402,A,-,R008_S,EIF4H,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF4H,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75614551,75614554,CCAC,-,R008_S,POR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,POR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142626278,142626278,C,-,R008_S,TRPV5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPV5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,41517956,41517956,-,G,R008_S,ANK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,145095398,145095398,G,-,R008_S,SPATC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,127731804,127731804,C,-,R008_S,ADAM12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAM12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134699279,134699279,-,CA,R008_S,CFAP46,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CFAP46,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27293050,27293051,CT,-,R008_S,C12orf71,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,C12orf71;STK38L,dist=57595;dist=104168,NA,NA,NA,NA,NA,NA,NA,NA
chr12,29592385,29592392,AAACAAAC,-,R008_S,OVCH1-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,OVCH1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50531622,50531625,TAGT,-,R008_S,CERS5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CERS5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,32977346,32977346,A,-,R008_S,N4BP2L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,N4BP2L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77732538,77732538,G,-,R008_S,NGB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NGB,NM_021257:c.*341delC,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2487905,2487905,A,-,R008_S,CCNF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,69395141,69395141,-,A,R008_S,TERF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TERF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81183534,81183534,-,AC,R008_S,PKD1L2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PKD1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,33849139,33849139,A,-,R008_S,SLFN12L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLFN12L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38233950,38233950,-,T,R008_S,THRA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THRA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,61021673,61021673,A,-,R008_S,MIR633,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,MIR633,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4770871,4770871,T,-,R008_S,MIR7-3HG,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR7-3HG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54220020,54220020,T,-,R008_S,MIR521-2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,MIR521-2,dist=86,NA,NA,NA,NA,NA,NA,NA,NA
chr20,9453921,9453922,TG,-,R008_S,PLCB4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLCB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46895660,46895661,GT,-,R008_S,COL18A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL18A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109525422,109525422,A,-,R009_F,WDR47,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR47,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159810811,159810811,T,-,R009_F,SNHG28,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169388414,169388414,A,-,R009_F,CCDC181,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC181,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,215814186,215814186,C,-,R009_F,USH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46815408,46815408,G,-,R009_F,PIGF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,227916908,227916908,A,-,R009_F,COL4A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12571421,12571421,T,-,R009_F,TSEN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSEN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68355918,68355921,AAAG,-,R009_F,CENPC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CENPC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,120116876,120116876,-,A,R009_F,LOC101929762,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101929762,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55112263,55112263,T,-,R009_F,DDX4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,55398218,55398219,AA,-,R009_F,ANKRD55,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANKRD55,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,64913789,64913789,A,-,R009_F,TRIM23,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM23,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,86669964,86669964,A,-,R009_F,CCNH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNH;RASA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,3006822,3006822,T,-,R009_F,NQO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NQO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,51935416,51935416,A,-,R009_F,PKHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,83643505,83643505,T,-,R009_F,SEMA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103969195,103969200,AGGAGG,-,R009_F,LHFPL3,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,LHFPL3,NM_199000:c.-33_-28del-,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107746866,107746866,A,-,R009_F,LAMB4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LAMB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,15727850,15727850,T,-,R009_F,CCDC171,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC171,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33676676,33676678,AGG,-,R009_F,PTENP1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,PTENP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,72895959,72895959,-,T,R009_F,SMC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79896655,79896655,-,TA,R009_F,VPS13A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,104071482,104071484,TCT,-,R009_F,PLPPR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLPPR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139341530,139341530,A,-,R009_F,SEC16A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC16A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,863638,863638,-,TA,R009_F,LARP4B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LARP4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98310942,98310943,CA,-,R009_F,TM9SF3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TM9SF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,105005683,105005683,-,A,R009_F,RPEL1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RPEL1,NM_001143909:c.-71_-70insA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,112363206,112363206,-,T,R009_F,SMC3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,46694410,46694412,TCT,-,R009_F,ATG13,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ATG13,NM_001346330:c.*528_*530delTCT;NM_001346333:c.*528_*530delTCT;NM_001346322:c.*528_*530delTCT;NM_001346334:c.*528_*530delTCT;NM_001346328:c.*528_*530delTCT;NM_001346317:c.*528_*530delTCT;NM_001346323:c.*528_*530delTCT;NM_001205121:c.*528_*530delTCT;NM_001346311:c.*528_*530delTCT;NM_001346338:c.*528_*530delTCT;NM_001346337:c.*528_*530delTCT;NM_001346336:c.*528_*530delTCT;NM_001346354:c.*528_*530delTCT;NM_001346312:c.*528_*530delTCT;NM_001346316:c.*528_*530delTCT;NM_001346357:c.*528_*530delTCT;NM_001346350:c.*528_*530delTCT;NM_001346331:c.*528_*530delTCT;NM_001346326:c.*528_*530delTCT;NM_014741:c.*528_*530delTCT;NM_001346329:c.*528_*530delTCT;NM_001346348:c.*528_*530delTCT;NM_001205122:c.*528_*530delTCT;NM_001346356:c.*528_*530delTCT;NM_001346355:c.*528_*530delTCT;NM_001205120:c.*528_*530delTCT;NM_001346344:c.*528_*530delTCT;NM_001346332:c.*528_*530delTCT;NM_001346313:c.*528_*530delTCT;NM_001346314:c.*528_*530delTCT;NM_001346324:c.*528_*530delTCT;NM_001346346:c.*528_*530delTCT;NM_001346352:c.*528_*530delTCT;NM_001346351:c.*528_*530delTCT;NM_001346320:c.*528_*530delTCT;NM_001346318:c.*528_*530delTCT;NM_001346340:c.*528_*530delTCT;NM_001346349:c.*528_*530delTCT;NM_001346327:c.*528_*530delTCT;NM_001346319:c.*528_*530delTCT;NM_001205119:c.*528_*530delTCT;NM_001346360:c.*528_*530delTCT;NM_001346315:c.*528_*530delTCT;NM_001346321:c.*528_*530delTCT;NM_001346359:c.*528_*530delTCT;NM_001346342:c.*528_*530delTCT;NM_001346335:c.*528_*530delTCT;NM_001346358:c.*528_*530delTCT;NM_001346353:c.*528_*530delTCT;NM_001346325:c.*528_*530delTCT;NM_001142673:c.*528_*530delTCT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64402949,64402951,AAG,-,R009_F,NRXN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NRXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,39301028,39301028,T,-,R009_F,CPNE8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CPNE8;KIF21A,dist=1635;dist=386002,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58129302,58129302,-,C,R009_F,AGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81239722,81239722,A,-,R009_F,LIN7A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LIN7A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52661641,52661643,TCT,-,R009_F,NEK5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NEK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22935333,22935335,AAG,-,R009_F,LOC105370401,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC105370401,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31575374,31575374,A,-,R009_F,HECTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HECTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39554887,39554890,TATA,-,R009_F,SEC23A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SEC23A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51348148,51348148,T,-,R009_F,ABHD12B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABHD12B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40901237,40901237,T,-,R009_F,KNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,636320,636320,-,CTC,R009_F,TLCD3A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,TLCD3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45471625,45471627,CTC,-,R009_F,EFCAB13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EFCAB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,56688727,56688727,A,-,R009_F,TEX14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEX14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,65156365,65156365,-,A,R009_F,HELZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HELZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79390240,79390241,GT,-,R009_F,BAHCC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BAHCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,2772110,2772110,T,-,R009_F,SMCHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMCHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,30275527,30275527,A,-,R009_F,KLHL14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLHL14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54393020,54393020,T,-,R009_F,PRKCG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKCG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,47268985,47268985,-,A,R009_F,PREX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PREX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,45650008,45650008,-,C,R009_F,ICOSLG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ICOSLG;LOC102723996,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,24516926,24516926,T,-,R009_F,PDK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,138714642,138714642,-,A,R009_F,MCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,139006117,139006117,T,-,R009_F,ATP11C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7913180,7913180,T,-,R009_S,UTS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159810811,159810811,T,-,R009_S,SNHG28,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,SNHG28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,159811043,159811055,AAGGATCTGATTT,-,R009_S,SNHG28,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,SNHG28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169388414,169388414,A,-,R009_S,CCDC181,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC181,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,218578727,218578728,CT,-,R009_S,TGFB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TGFB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46815408,46815408,G,-,R009_S,PIGF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIGF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,112917221,112917221,T,-,R009_S,FBLN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBLN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179511768,179511769,TA,-,R009_S,TTN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,220135823,220135831,TTGGTTCTT,-,R009_S,TUBA4B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TUBA4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,230705517,230705517,A,-,R009_S,TRIP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,12571421,12571421,T,-,R009_S,TSEN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSEN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,16358325,16358327,TGC,-,R009_S,RFTN1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,RFTN1,NM_015150:c.*10_*8delGCA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,58112244,58112244,A,-,R009_S,FLNB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FLNB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,66434373,66434374,CA,-,R009_S,LRIG1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LRIG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68355918,68355921,AAAG,-,R009_S,CENPC,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CENPC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166981409,166981409,A,-,R009_S,TLL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,58272140,58272141,AC,-,R009_S,PDE4D,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDE4D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,86669964,86669964,A,-,R009_S,CCNH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNH;RASA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,112915255,112915255,-,T,R009_S,YTHDC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YTHDC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,18875272,18875280,ATTACCCCT,-,R009_S,HDAC9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HDAC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,42188098,42188118,TAAACTACTTTAAGGAGCAAT,-,R009_S,GLI3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GLI3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,44715477,44715477,A,-,R009_S,OGDH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,83643505,83643505,T,-,R009_S,SEMA3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEMA3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27964057,27964071,AAAAAAAAAAAAAAA,-,R009_S,ELP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ELP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,54899478,54899478,T,-,R009_S,TCEA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TCEA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,33676676,33676678,AGG,-,R009_S,PTENP1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,PTENP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,37305830,37305831,AT,-,R009_S,ZCCHC7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZCCHC7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79896655,79896655,-,TA,R009_S,VPS13A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139341530,139341530,A,-,R009_S,SEC16A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC16A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,863638,863638,-,TA,R009_S,LARP4B,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LARP4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,90034668,90034668,A,-,R009_S,RNLS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RNLS,NM_018363:c.*50delT,NA,NA,NA,NA,NA,NA,NA,NA
chr10,98310942,98310943,CA,-,R009_S,TM9SF3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TM9SF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64402949,64402951,AAG,-,R009_S,NRXN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NRXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,64428678,64428680,AAG,-,R009_S,NRXN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NRXN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,89868139,89868140,CT,-,R009_S,NAALAD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NAALAD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,39301028,39301028,T,-,R009_S,CPNE8,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,CPNE8;KIF21A,dist=1635;dist=386002,NA,NA,NA,NA,NA,NA,NA,NA
chr12,58129302,58129302,-,C,R009_S,AGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,78540194,78540194,T,-,R009_S,NAV3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAV3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110454085,110454085,-,T,R009_S,ANKRD13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112306513,112306513,T,-,R009_S,MAPKAPK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPKAPK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124242459,124242459,T,-,R009_S,ATP6V0A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP6V0A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,37583188,37583188,A,-,R009_S,EXOSC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52661641,52661643,TCT,-,R009_S,NEK5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NEK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22935333,22935335,AAG,-,R009_S,LOC105370401,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC105370401,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39554887,39554890,TATA,-,R009_S,SEC23A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SEC23A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,28358828,28358830,GAA,-,R009_S,HERC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HERC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40901237,40901237,T,-,R009_S,KNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56501343,56501343,T,-,R009_S,OGFOD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OGFOD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,3618249,3618249,A,-,R009_S,ITGAE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8222802,8222806,CCCAC,-,R009_S,ARHGEF15,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGEF15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27861114,27861115,TC,-,R009_S,TAOK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TAOK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,45471625,45471627,CTC,-,R009_S,EFCAB13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EFCAB13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48940257,48940257,A,-,R009_S,TOB1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TOB1,NM_001243877:c.*84delT;NM_005749:c.*84delT;NM_001243885:c.*84delT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,74160934,74160936,TTC,-,R009_S,RNF157,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RNF157,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79390240,79390241,GT,-,R009_S,BAHCC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BAHCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,2772110,2772110,T,-,R009_S,SMCHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMCHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,37395980,37395980,T,-,R009_S,ACTR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACTR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54569370,54569370,T,-,R009_S,GNL3L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNL3L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,138714642,138714642,-,A,R009_S,MCF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MCF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,139006117,139006117,T,-,R009_S,ATP11C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP11C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62613787,62613788,TG,-,R010_F,PATJ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PATJ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115226991,115226991,A,-,R010_F,AMPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,231061244,231061254,CAGGTAGTTTC,-,R010_F,TTC13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTC13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,151343986,151343986,-,AT,R010_F,RND3,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,RND3,NM_001254738:c.-56_-55insAT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,178919397,178919397,-,T,R010_F,PIK3CA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIK3CA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184700587,184700587,C,-,R010_F,VPS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36466367,36466367,T,-,R010_F,STK38,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STK38,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,165845028,165845041,ATATACTATATATC,-,R010_F,PDE10A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDE10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,77234110,77234111,AT,-,R010_F,PTPN12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,91509437,91509438,AC,-,R010_F,MTERF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MTERF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140055426,140055427,AG,-,R010_F,SLC37A3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC37A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,143017740,143017740,C,-,R010_F,CLCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,151680269,151680271,TTG,-,R010_F,GALNTL5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GALNTL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139848986,139848994,CCCCCTGCC,-,R010_F,LCN12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LCN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,19616401,19616401,A,-,R010_F,MALRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MALRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,52502804,52502805,GT,-,R010_F,ASAH2B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ASAH2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,58379664,58379665,GT,-,R010_F,ZFP91-CNTF,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ZFP91-CNTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,81839548,81839548,-,G,R010_F,PPFIA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPFIA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,113617918,113617918,A,-,R010_F,DDX54,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DDX54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,34263097,34263097,C,-,R010_F,NPAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2076252,2076252,T,-,R010_F,SMG6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMG6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58733814,58733814,A,-,R010_F,PPM1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPM1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79942870,79942870,-,C,R010_F,ASPSCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,46447624,46447624,A,-,R010_F,SMAD7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SMAD7,NM_005904:c.*118delT;NM_001190823:c.*118delT;NM_001190822:c.*118delT;NM_001190821:c.*118delT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1481587,1481588,TC,-,R010_F,PCSK4,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,PCSK4,NM_017573:c.*171_*170delGA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31478875,31478875,C,-,R010_F,SMTN,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SMTN,NM_001207017:c.-32del-,NA,NA,NA,NA,NA,NA,NA,NA
chrX,111090300,111090300,A,-,R010_F,TRPC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRPC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,117733260,117733260,A,-,R010_F,DOCK11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,9075048,9075048,C,-,R010_S,SLC2A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10534769,10534769,A,-,R010_S,PEX14,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,PEX14,dist=238,NA,NA,NA,NA,NA,NA,NA,NA
chr1,26624401,26624402,GT,-,R010_S,UBXN11,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBXN11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,29845251,29845252,CC,-,R010_S,LINC01756,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC01756;LINC01648,dist=168625;dist=641547,NA,NA,NA,NA,NA,NA,NA,NA
chr1,32691629,32691629,A,-,R010_S,EIF3I,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EIF3I,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51032699,51032699,T,-,R010_S,FAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55604693,55604693,A,-,R010_S,USP24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115226991,115226991,A,-,R010_S,AMPD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AMPD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,149921365,149921365,T,-,R010_S,OTUD7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OTUD7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160722998,160722998,A,-,R010_S,SLAMF7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLAMF7,NM_001282589:c.*31delA;NM_001282588:c.*44delA;NM_001282591:c.*31delA;NM_001282595:c.*31delA;NM_001282594:c.*31delA;NM_001282593:c.*44delA;NM_001282590:c.*31delA;NM_001282596:c.*44delA;NM_001282592:c.*44delA;NM_021181:c.*31delA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,182849834,182849834,-,A,R010_S,DHX9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27276504,27276504,-,T,R010_S,AGBL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AGBL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,36775411,36775411,T,-,R010_S,CRIM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRIM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,151343986,151343986,-,AT,R010_S,RND3,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,RND3,NM_001254738:c.-56_-55insAT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,175991970,175991970,A,-,R010_S,ATF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,186625671,186625671,A,-,R010_S,FSIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FSIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,196912237,196912237,A,-,R010_S,DNAH7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,202272111,202272111,A,-,R010_S,TRAK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,207604136,207604136,-,A,R010_S,MDH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209110176,209110176,A,-,R010_S,IDH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IDH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,239261732,239261732,C,-,R010_S,TRAF3IP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAF3IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,8757421,8757421,-,A,R010_S,SSUH2,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,SSUH2;CAV3,dist=63651;dist=18065,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27478843,27478843,A,-,R010_S,SLC4A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57328004,57328004,A,-,R010_S,DNAH12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,100238232,100238233,TG,-,R010_S,TMEM45A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMEM45A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,108403020,108403020,G,-,R010_S,DZIP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DZIP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113442785,113442785,A,-,R010_S,NAA50,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NAA50,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,121417792,121417792,A,-,R010_S,GOLGB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74310696,74310696,T,-,R010_S,AFP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,100001177,100001178,TA,-,R010_S,ADH5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ADH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37349161,37349161,T,-,R010_S,NUP155,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP155,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,39390122,39390122,T,-,R010_S,DAB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,68581142,68581142,A,-,R010_S,CCDC125,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC125,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,90144669,90144669,T,-,R010_S,ADGRV1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,138723354,138723355,CA,-,R010_S,MZB1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MZB1,NM_016459:c.*100_*99delTG,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35745414,35745414,A,-,R010_S,CLPSL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLPSL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36043563,36043563,T,-,R010_S,MAPK14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPK14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,71009952,71009952,A,-,R010_S,COL9A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL9A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,75898260,75898260,C,-,R010_S,COL12A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL12A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,112462471,112462472,TG,-,R010_S,LAMA4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LAMA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,165845028,165845041,ATATACTATATATC,-,R010_S,PDE10A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDE10A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,39491108,39491108,T,-,R010_S,POU6F2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POU6F2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,73038473,73038473,C,-,R010_S,MLXIPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLXIPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,91641672,91641672,A,-,R010_S,AKAP9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKAP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99687409,99687409,A,-,R010_S,COPS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107875144,107875144,A,-,R010_S,NRCAM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NRCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,121942443,121942443,A,-,R010_S,FEZF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FEZF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140055426,140055427,AG,-,R010_S,SLC37A3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC37A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,158711365,158711365,T,-,R010_S,WDR60,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR60,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42761289,42761289,C,-,R010_S,HOOK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOOK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42849490,42849495,TTTGGG,-,R010_S,HOOK3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HOOK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,62593502,62593502,-,A,R010_S,ASPH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74692756,74692756,A,-,R010_S,UBE2W,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2W,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95390697,95390697,A,-,R010_S,RAD54B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD54B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144458878,144458887,TGTGTGTGCA,-,R010_S,RHPN1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RHPN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,8528542,8528542,A,-,R010_S,PTPRD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,79954404,79954405,TG,-,R010_S,VPS13A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VPS13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131243751,131243751,A,-,R010_S,MIR1268A,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MIR1268A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,131552861,131552861,G,-,R010_S,TBC1D13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TBC1D13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139996194,139996195,TG,-,R010_S,MAN1B1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAN1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,6506180,6506207,GGATTCAGGCATGCCAAGTGGGAAAAAA,-,R010_S,PRKCQ,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PRKCQ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,65383548,65383548,T,-,R010_S,REEP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,REEP3,NM_001001330:c.*2919delT,NA,NA,NA,NA,NA,NA,NA,NA
chr10,65383552,65383552,-,A,R010_S,REEP3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,REEP3,NM_001001330:c.*2923_*2924insA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75564416,75564416,-,ATT,R010_S,NDST2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NDST2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124357332,124357347,CTTGCTGAGCTGCAGA,-,R010_S,DMBT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DMBT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,49059017,49059017,-,T,R010_S,TRIM49B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM49B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67141184,67141184,-,T,R010_S,LOC100130987,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100130987,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,93439861,93439862,AG,-,R010_S,CEP295,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CEP295,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,113697928,113697928,A,-,R010_S,USP28,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP28,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,46342143,46342143,T,-,R010_S,SCAF11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCAF11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56677665,56677665,A,-,R010_S,CS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,66345129,66345129,C,-,R010_S,HMGA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMGA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,71523013,71523013,T,-,R010_S,TSPAN8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TSPAN8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133375067,133375067,A,-,R010_S,GOLGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24462174,24462174,T,-,R010_S,MIPEP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIPEP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,103703786,103703786,A,-,R010_S,SLC10A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC10A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,21460882,21460882,T,-,R010_S,METTL17,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,METTL17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,31066757,31066757,A,-,R010_S,G2E3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,G2E3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,34263097,34263097,C,-,R010_S,NPAS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NPAS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,38261458,38261458,T,-,R010_S,TTC6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39619588,39619588,A,-,R010_S,TRAPPC6B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,75201429,75201429,G,-,R010_S,FCF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,89656891,89656891,A,-,R010_S,FOXN3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FOXN3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44925881,44925881,A,-,R010_S,SPG11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPG11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2642676,2642676,A,-,R010_S,PDPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,11815327,11815327,A,-,R010_S,TXNDC11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57272951,57272951,-,A,R010_S,RSPRY1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RSPRY1,NM_133368:c.*64_*65insA;NM_001305163:c.*64_*65insA;NM_001305164:c.*64_*65insA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81272626,81272626,T,-,R010_S,BCO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,69318,69318,T,-,R010_S,RPH3AL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPH3AL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1438654,1438654,C,-,R010_S,PITPNA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PITPNA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2076252,2076252,T,-,R010_S,SMG6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMG6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7749365,7749370,CACCCA,-,R010_S,KDM6B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KDM6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7793748,7793748,A,-,R010_S,CHD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CHD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,10413001,10413001,T,-,R010_S,MYHAS,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,MYHAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,30376973,30376973,T,-,R010_S,LRRC37B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC37B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,34855110,34855110,-,T,R010_S,ZNHIT3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ZNHIT3,NM_001281432:c.*1500_*1501insT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35696842,35696842,T,-,R010_S,ACACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47696765,47696765,A,-,R010_S,SPOP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPOP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,48602105,48602105,-,AA,R010_S,MYCBPAP,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MYCBPAP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,49076908,49076908,A,-,R010_S,SPAG9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPAG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,63193375,63193375,-,A,R010_S,RGS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73265611,73265611,C,-,R010_S,MIF4GD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MIF4GD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79942870,79942870,-,C,R010_S,ASPSCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ASPSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,59894503,59894503,T,-,R010_S,RELCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RELCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1912000,1912001,CC,-,R010_S,ADAT3,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,ADAT3,NM_138422:c.-47_-46del-,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4216087,4216087,C,-,R010_S,ANKRD24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10919089,10919089,-,T,R010_S,DNM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10919098,10919098,C,-,R010_S,DNM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17374673,17374673,-,A,R010_S,USHBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USHBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36572252,36572252,T,-,R010_S,WDR62,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR62,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48058644,48058644,G,-,R010_S,ZNF541,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF541,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10639099,10639100,CA,-,R010_S,JAG1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,JAG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,25459545,25459545,G,-,R010_S,NINL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NINL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35696592,35696592,A,-,R010_S,RBL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,31478875,31478875,C,-,R010_S,SMTN,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,SMTN,NM_001207017:c.-32del-,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16688837,16688837,T,-,R010_S,CTPS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CTPS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138668234,138668235,GT,-,R011_F,FOXL2NB,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FOXL2NB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183903935,183903935,-,G,R011_F,ABCF3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABCF3,NM_001351299:c.-2161_-2160insG;NM_001351298:c.-61_-60insG;NM_018358:c.-61_-60insG;NM_001351300:c.-2088_-2087insG,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78979258,78979259,GT,-,R011_F,FRAS1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,152498455,152498456,AC,-,R011_F,FAM160A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM160A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34896890,34896890,-,T,R011_F,TTC23L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TTC23L,NM_144725:c.*7_*8insT;NM_001317949:c.*7_*8insT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177035489,177035489,C,-,R011_F,B4GALT7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B4GALT7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,180429472,180429483,ATATATATATAT,-,R011_F,BTNL3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BTNL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,90452809,90452809,A,-,R011_F,MDN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MDN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117073906,117073907,TA,-,R011_F,FAM162B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM162B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,99364702,99364702,-,A,R011_F,CYP3A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYP3A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107880310,107880311,AG,-,R011_F,NRCAM,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NRCAM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,82583105,82583105,A,-,R011_F,IMPA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMPA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,93898788,93898788,T,-,R011_F,TRIQK,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRIQK,NM_001171799:c.*62delA;NM_001191036:c.*62delA;NM_001171798:c.*62delA;NM_001191035:c.*62delA;NM_001171795:c.*62delA;NM_001171796:c.*62delA;NM_001171797:c.*62delA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121561202,121561203,GA,-,R011_F,SNTB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SNTB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,130413852,130413853,CT,-,R011_F,STXBP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STXBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,7423924,7423924,A,-,R011_F,SFMBT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFMBT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,44913638,44913638,-,AG,R011_F,NELL2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,NELL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72094531,72094531,A,-,R011_F,TMEM19,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM19,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122437595,122437595,T,-,R011_F,WDR66,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDR66,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111932586,111932586,-,T,R011_F,ARHGEF7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,50802741,50802744,TTCT,-,R011_F,CDKL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CDKL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,59960957,59960958,AC,-,R011_F,BNIP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BNIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,91452836,91452836,T,-,R011_F,MAN2A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAN2A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,49084472,49084473,GT,-,R011_F,SPAG9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPAG9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,21724539,21724543,GTTTT,-,R011_F,ZNF429,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,ZNF429;LOC400682,dist=1070;dist=107927,NA,NA,NA,NA,NA,NA,NA,NA
chr19,56001802,56001802,-,CCAAGCAA,R011_F,SSC5D,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SSC5D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,23541310,23541310,A,-,R011_F,BCR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,25573295,25573295,C,-,R011_F,KIAA1671,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA1671,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,47066804,47066804,-,T,R011_F,GRAMD4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRAMD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,74716516,74716516,T,-,R011_S,FPGT-TNNI3K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FPGT-TNNI3K;TNNI3K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110592049,110592050,TT,-,R011_S,STRIP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STRIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145587859,145587859,T,-,R011_S,NBPF10,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NBPF10;NBPF19;NBPF20;NUDT17,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,147381393,147381393,-,A,R011_S,GJA8,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,GJA8,NM_005267:c.*9_*10insA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,215812335,215812335,-,A,R011_S,USH2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USH2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,112779286,112779286,-,TC,R011_S,MERTK,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MERTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,112817505,112817505,-,A,R011_S,TMEM87B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM87B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,212488829,212488830,TC,-,R011_S,ERBB4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ERBB4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,146234963,146234963,A,-,R011_S,PLSCR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLSCR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183903935,183903935,-,G,R011_S,ABCF3,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ABCF3,NM_001351299:c.-2161_-2160insG;NM_001351298:c.-61_-60insG;NM_018358:c.-61_-60insG;NM_001351300:c.-2088_-2087insG,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74350165,74350165,-,TC,R011_S,AFM,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,AFM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,34896890,34896890,-,T,R011_S,TTC23L,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TTC23L,NM_144725:c.*7_*8insT;NM_001317949:c.*7_*8insT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111587015,111587015,-,T,R011_S,MFSD4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MFSD4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48731935,48731935,A,-,R011_S,PRKDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95541687,95541687,A,-,R011_S,VIRMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIRMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132595849,132595849,-,T,R011_S,C9orf78,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C9orf78,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,7423923,7423923,-,A,R011_S,SFMBT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SFMBT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,71192530,71192530,T,-,R011_S,NADSYN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NADSYN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,72163722,72163722,A,-,R011_S,RAB21,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAB21,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133294826,133294826,-,C,R011_S,PGAM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGAM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,70549943,70549944,CA,-,R011_S,KLHL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KLHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20836924,20836925,CA,-,R011_S,TEP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96798566,96798566,G,-,R011_S,ATG2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATG2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29625525,29625525,A,-,R011_S,RNF125,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF125,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,67741419,67741419,T,-,R011_S,YIPF6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YIPF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,147026336,147026336,T,-,R011_S,FMR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19525489,19525490,TT,-,R012_F,UBR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,27609630,27609630,A,-,R012_F,WDTC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WDTC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,37291506,37291507,GA,-,R012_F,GRIK3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRIK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41213514,41213514,T,-,R012_F,NFYC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NFYC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169572545,169572545,-,TG,R012_F,SELP,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SELP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,169672596,169672596,A,-,R012_F,SELL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SELL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,184670822,184670822,A,-,R012_F,EDEM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDEM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,201081284,201081284,C,-,R012_F,CACNA1S,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA1S,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,1890247,1890247,T,-,R012_F,MYT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42552711,42552711,-,TA,R012_F,EML4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EML4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86701826,86701826,G,-,R012_F,KDM3A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KDM3A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,131883288,131883288,A,-,R012_F,PLEKHB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,15080603,15080603,G,-,R012_F,NR2C2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NR2C2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47604271,47604271,G,-,R012_F,CSPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53267119,53267120,CA,-,R012_F,TKT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TKT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,57456094,57456094,A,-,R012_F,DNAH12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNAH12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,81720115,81720117,GAA,-,R012_F,GBE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GBE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,128974023,128974023,T,-,R012_F,COPG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,194124647,194124647,G,-,R012_F,ATP13A3,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ATP13A3,NM_024524:c.*2001delC;NM_001367549:c.*2001delC,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4241997,4241997,A,-,R012_F,TMEM128,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79768295,79768296,TA,-,R012_F,BMP2K,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BMP2K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113333685,113333685,T,-,R012_F,ALPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114209517,114209519,TTT,-,R012_F,ANK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94670823,94670823,T,-,R012_F,MCTP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MCTP1;FAM81B,dist=50544;dist=56247,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167654813,167654813,-,A,R012_F,TENM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176047718,176047718,T,-,R012_F,SNCB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNCB,NM_001318037:c.*94delA;NM_003085:c.*94delA;NM_001001502:c.*94delA;NM_001363140:c.*94delA;NM_001318036:c.*94delA;NM_001318035:c.*94delA;NM_001318034:c.*94delA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88853531,88853531,A,-,R012_F,CNR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CNR1,NM_001370546:c.*44delT;NM_001370545:c.*44delT;NM_001365874:c.*44delT;NM_001365872:c.*44delT;NM_001365870:c.*44delT;NM_001365869:c.*44delT;NM_001370547:c.*44delT;NM_016083:c.*44delT;NM_001160259:c.*44delT;NM_001160258:c.*44delT;NM_033181:c.*44delT;NM_001160226:c.*44delT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,96044509,96044510,AT,-,R012_F,MANEA,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MANEA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111196179,111196179,A,-,R012_F,AMD1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,AMD1,NM_001287214:c.-130del-;NM_001287216:c.-130del-;NM_001634:c.-130del-,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136582363,136582363,-,A,R012_F,BCLAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCLAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5800154,5800154,A,-,R012_F,RNF216,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RNF216,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75039256,75039260,AAAAT,-,R012_F,NSUN5P1,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,NSUN5P1,dist=345,NA,NA,NA,NA,NA,NA,NA,NA
chr7,103015124,103015124,T,-,R012_F,SLC26A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC26A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,116869956,116869958,CTC,-,R012_F,ST7,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ST7,NM_001369598:c.*45_*47delCTC;NM_001369601:c.*45_*47delCTC;NM_001369607:c.*45_*47delCTC;NM_018412:c.*45_*47delCTC;NM_001369602:c.*45_*47delCTC;NM_001369603:c.*45_*47delCTC;NM_001369599:c.*45_*47delCTC;NM_001369600:c.*45_*47delCTC;NM_001369606:c.*45_*47delCTC,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134576462,134576462,T,-,R012_F,CALD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CALD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,63985466,63985466,A,-,R012_F,TTPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,98712117,98712118,AG,-,R012_F,MTDH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MTDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,108970519,108970519,-,A,R012_F,RSPO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,96437139,96437139,-,C,R012_F,PHF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114548405,114548406,TA,-,R012_F,SHOC1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,SHOC1;UGCG,dist=2632;dist=110688,NA,NA,NA,NA,NA,NA,NA,NA
chr10,92678871,92678871,A,-,R012_F,ANKRD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6422136,6422138,AGA,-,R012_F,APBB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,APBB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,63400292,63400292,-,CAAAA,R012_F,ATL3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ATL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,87016870,87016870,T,-,R012_F,TMEM135,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM135,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,41312364,41312364,A,-,R012_F,CNTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,45822841,45822843,CTC,-,R012_F,ANO6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANO6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,50272501,50272501,-,TGTA,R012_F,FAIM2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,FAIM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54805760,54805761,AA,-,R012_F,LOC102724050,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC102724050,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21265405,21265405,T,-,R012_F,IFT88,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,IFT88,NM_001353565:c.*91delT;NM_001353572:c.*91delT;NM_001353574:c.*91delT;NM_001353575:c.*218delT;NM_006531:c.*91delT;NM_001353569:c.*91delT;NM_001353579:c.*91delT;NM_001353577:c.*91delT;NM_001353578:c.*91delT;NM_001353573:c.*91delT;NM_001318493:c.*91delT;NM_001318491:c.*91delT;NM_001353568:c.*91delT;NM_001353570:c.*91delT;NM_001353571:c.*91delT;NM_001353567:c.*91delT;NM_001353566:c.*91delT;NM_001353576:c.*91delT;NM_175605:c.*91delT,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21374515,21374515,-,A,R012_F,XPO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,24845131,24845134,CTCT,-,R012_F,SPATA13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPATA13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95696128,95696128,-,A,R012_F,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99460784,99460784,-,A,R012_F,DOCK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,22573793,22573794,AG,-,R012_F,OR4E1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,OR4E1;LOC105370401,dist=434561;dist=274014,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74961719,74961720,CT,-,R012_F,ISCA2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ISCA2,NM_001272007:c.*182_*183delCT;NM_194279:c.*16_*17delCT,NA,NA,NA,NA,NA,NA,NA,NA
chr14,96998644,96998644,T,-,R012_F,PAPOLA,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PAPOLA,NM_001252007:c.*611delT,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22318825,22318825,C,-,R012_F,LINC02203,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02203;LOC101927079,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44624163,44624163,A,-,R012_F,CASC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CASC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85213490,85213490,T,-,R012_F,SEC11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SEC11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,18805906,18805908,TCC,-,R012_F,ARL6IP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARL6IP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20361214,20361214,A,-,R012_F,UMOD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UMOD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,47292700,47292700,A,-,R012_F,ITFG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITFG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2651443,2651445,TCT,-,R012_F,MIR1253,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,MIR1253,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29123461,29123464,TAAT,-,R012_F,CRLF3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CRLF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60782843,60782844,AA,-,R012_F,MARCHF10,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MARCHF10,NM_001288780:c.*25_*24delTT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6931310,6931310,T,-,R012_F,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48637370,48637371,CA,-,R012_F,LIG1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LIG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,13695825,13695825,A,-,R012_F,ESF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ESF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30354258,30354259,GT,-,R012_F,TPX2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,39870560,39870560,T,-,R012_F,ERG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30772229,30772229,T,-,R012_F,KIAA1656,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,KIAA1656,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,40521635,40521636,AC,-,R012_F,TNRC6B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TNRC6B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41545024,41545024,-,T,R012_F,EP300,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EP300,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53654501,53654502,TA,-,R012_F,HUWE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,154578866,154578866,T,-,R012_F,LOC101927830,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC101927830;TMLHE-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19525489,19525490,TT,-,R012_S,UBR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,41091998,41091999,AC,-,R012_S,RIMS3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,RIMS3,NM_014747:c.*191_*190delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55680398,55680409,GTGTCCCCTCCC,-,R012_S,USP24,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,USP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158326448,158326448,T,-,R012_S,CD1E,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CD1E,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,161680413,161680413,-,A,R012_S,FCRLA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FCRLA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,167190251,167190251,-,C,R012_S,POU2F1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POU2F1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,184670822,184670822,A,-,R012_S,EDEM3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EDEM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,213416127,213416133,TTAACCC,-,R012_S,RPS6KC1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RPS6KC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,42552711,42552711,-,TA,R012_S,EML4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EML4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,142301930,142301930,C,-,R012_S,LRP1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRP1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,27439371,27439371,T,-,R012_S,SLC4A7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC4A7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,40351282,40351300,TCCGCCGCCGCCACTCCAG,-,R012_S,EIF1B,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,EIF1B,NM_005875:c.-151_-133del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,47604271,47604271,G,-,R012_S,CSPG5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CSPG5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,51990784,51990786,AAG,-,R012_S,GPR62,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,GPR62,NM_080865:c.*9_*11delAAG,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53267119,53267120,CA,-,R012_S,TKT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TKT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,127434370,127434370,G,-,R012_S,MGLL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MGLL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,4241997,4241997,A,-,R012_S,TMEM128,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM128,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,39436433,39436433,T,-,R012_S,KLB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KLB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,113333685,113333685,T,-,R012_S,ALPK1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALPK1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,114209517,114209519,TTT,-,R012_S,ANK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,94670823,94670823,T,-,R012_S,MCTP1,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,MCTP1;FAM81B,dist=50544;dist=56247,NA,NA,NA,NA,NA,NA,NA,NA
chr5,167654813,167654813,-,A,R012_S,TENM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TENM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,176047718,176047718,T,-,R012_S,SNCB,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SNCB,NM_001318037:c.*94delA;NM_003085:c.*94delA;NM_001001502:c.*94delA;NM_001363140:c.*94delA;NM_001318036:c.*94delA;NM_001318035:c.*94delA;NM_001318034:c.*94delA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,27100719,27100723,CACTA,-,R012_S,HIST1H2AG,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,HIST1H2AG;HIST1H2BJ,dist=94,NA,NA,NA,NA,NA,NA,NA,NA
chr6,64498154,64498154,A,-,R012_S,EYS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EYS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88853531,88853531,A,-,R012_S,CNR1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CNR1,NM_001370546:c.*44delT;NM_001370545:c.*44delT;NM_001365874:c.*44delT;NM_001365872:c.*44delT;NM_001365870:c.*44delT;NM_001365869:c.*44delT;NM_001370547:c.*44delT;NM_016083:c.*44delT;NM_001160259:c.*44delT;NM_001160258:c.*44delT;NM_033181:c.*44delT;NM_001160226:c.*44delT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,136582363,136582363,-,A,R012_S,BCLAF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BCLAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,167789428,167789431,AGTT,-,R012_S,TCP10,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,TCP10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,114294141,114294144,AGTT,-,R012_S,FOXP2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,FOXP2,NM_148899:c.*44_*47delAGTT;NM_001172767:c.*44_*47delAGTT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,116869956,116869958,CTC,-,R012_S,ST7,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ST7,NM_001369598:c.*45_*47delCTC;NM_001369601:c.*45_*47delCTC;NM_001369607:c.*45_*47delCTC;NM_018412:c.*45_*47delCTC;NM_001369602:c.*45_*47delCTC;NM_001369603:c.*45_*47delCTC;NM_001369599:c.*45_*47delCTC;NM_001369600:c.*45_*47delCTC;NM_001369606:c.*45_*47delCTC,NA,NA,NA,NA,NA,NA,NA,NA
chr8,63985466,63985466,A,-,R012_S,TTPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,98712117,98712118,AG,-,R012_S,MTDH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MTDH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,108970519,108970519,-,A,R012_S,RSPO2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,110417389,110417389,T,-,R012_S,PKHD1L1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PKHD1L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,143833976,143833977,AG,-,R012_S,LYPD2,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,LYPD2,dist=26,NA,NA,NA,NA,NA,NA,NA,NA
chr9,96002295,96002304,TGTTGGCAGC,-,R012_S,WNK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WNK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,96437139,96437139,-,C,R012_S,PHF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,114548405,114548406,TA,-,R012_S,SHOC1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,SHOC1;UGCG,dist=2632;dist=110688,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139397628,139397631,ACTT,-,R012_S,NOTCH1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NOTCH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,16958042,16958042,-,AAAT,R012_S,CUBN,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CUBN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,21660350,21660350,-,A,R012_S,LINC02643,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02643,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,29891046,29891046,T,-,R012_S,SVIL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVIL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,75490581,75490583,AGA,-,R012_S,GLUD1P3,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,GLUD1P3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,86230058,86230060,TCA,-,R012_S,CCSER2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCSER2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,93614675,93614675,-,A,R012_S,TNKS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TNKS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,6422136,6422138,AGA,-,R012_S,APBB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,APBB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,111635344,111635344,-,A,R012_S,PPP2R1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP2R1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118882078,118882080,CTT,-,R012_S,CCDC84,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCDC84,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,119231138,119231138,T,-,R012_S,USP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,41312364,41312364,A,-,R012_S,CNTN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNTN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54805760,54805761,AA,-,R012_S,LOC102724050,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC102724050,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,62698612,62698612,A,-,R012_S,USP15,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,USP15,NM_001351165:c.-76743del-;NM_001351159:c.-9974del-,NA,NA,NA,NA,NA,NA,NA,NA
chr12,104014403,104014404,AC,-,R012_S,STAB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,STAB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,132428071,132428073,TCT,-,R012_S,PUS1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PUS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,21374515,21374515,-,A,R012_S,XPO4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPO4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,95696128,95696128,-,A,R012_S,ABCC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,99460784,99460784,-,A,R012_S,DOCK9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74961719,74961720,CT,-,R012_S,ISCA2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ISCA2,NM_001272007:c.*182_*183delCT;NM_194279:c.*16_*17delCT,NA,NA,NA,NA,NA,NA,NA,NA
chr15,22318825,22318825,C,-,R012_S,LINC02203,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LINC02203;LOC101927079,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,49064608,49064608,A,-,R012_S,CEP152,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP152,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,98417223,98417223,C,-,R012_S,LINC00923,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LINC00923,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20361214,20361214,A,-,R012_S,UMOD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UMOD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,70814891,70814891,-,TAGGGTTAGGGTTAGGGTTAGGG,R012_S,VAC14,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,VAC14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,2651443,2651445,TCT,-,R012_S,MIR1253,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,MIR1253,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,8064056,8064057,AC,-,R012_S,VAMP2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,VAMP2,NM_001330125:c.*117_*116delGT;NM_014232:c.*117_*116delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr17,29123461,29123464,TAAT,-,R012_S,CRLF3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CRLF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60782843,60782844,AA,-,R012_S,MARCHF10,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,MARCHF10,NM_001288780:c.*25_*24delTT,NA,NA,NA,NA,NA,NA,NA,NA
chr18,319945,319945,T,-,R012_S,COLEC12,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,COLEC12,NM_130386:c.*100delA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6856887,6856888,GT,-,R012_S,VAV1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,VAV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,6931310,6931310,T,-,R012_S,ADGRE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADGRE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,12944664,12944666,GCC,-,R012_S,RTBDN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RTBDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17757078,17757078,-,TGTT,R012_S,UNC13A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,UNC13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,36593532,36593533,TG,-,R012_S,WDR62,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WDR62,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,16719552,16719552,T,-,R012_S,SNRPB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNRPB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,30354258,30354259,GT,-,R012_S,TPX2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TPX2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,57346223,57346224,AG,-,R012_S,STX16-NPEPL1,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,STX16-NPEPL1;LOC105372695,dist=55323;dist=2257,NA,NA,NA,NA,NA,NA,NA,NA
chrX,74494611,74494616,GTGTGT,-,R012_S,UPRT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UPRT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,149637989,149637991,CTC,-,R012_S,MAMLD1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAMLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158583673,158583674,AG,-,R013_F,SPTA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,120831655,120831655,T,-,R013_F,EPB41L5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPB41L5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153574146,153574146,G,-,R013_F,PRPF40A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF40A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209302244,209302244,-,T,R013_F,PTH2R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTH2R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74448135,74448138,TTTG,-,R013_F,RASSF6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RASSF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166960774,166960777,TGAC,-,R013_F,TLL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,41368711,41368711,-,AA,R013_F,LINC01449,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,LINC01449;INHBA,dist=195612;dist=356001,NA,NA,NA,NA,NA,NA,NA,NA
chr7,41368720,41368720,-,G,R013_F,LINC01449,IGR,NA,NA,NA,NA,SNP,SNVindel,intergenic,LINC01449;INHBA,dist=195621;dist=355992,NA,NA,NA,NA,NA,NA,NA,NA
chr7,77234110,77234111,AT,-,R013_F,PTPN12,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPN12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,158055673,158055674,AC,-,R013_F,PTPRN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,71506691,71506691,A,-,R013_F,TRAM1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAM1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,131859769,131859769,A,-,R013_F,ADCY8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADCY8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,104819540,104819540,-,AGAAAC,R013_F,CASP4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CASP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51019632,51019632,T,-,R013_F,DIP2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DIP2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133147165,133147165,-,G,R013_F,FBRSL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FBRSL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16625198,16625198,A,-,R013_F,C19orf44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107512390,107512390,-,A,R013_F,COL4A6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,135053144,135053144,A,-,R013_F,MMGT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MMGT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,51425294,51425295,CA,-,R013_S,FAF1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,144919009,144919009,C,-,R013_S,LOC100996724,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC100996724,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,158583673,158583674,AG,-,R013_S,SPTA1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPTA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,173724988,173724988,-,TCC,R013_S,KLHL20,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,KLHL20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,68415564,68415564,T,-,R013_S,PPP3R1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP3R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,172582109,172582109,T,-,R013_S,DYNC1I2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYNC1I2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,209302244,209302244,-,T,R013_S,PTH2R,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTH2R,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74350224,74350224,A,-,R013_S,AFM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AFM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74448135,74448138,TTTG,-,R013_S,RASSF6,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RASSF6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,76528897,76528897,A,-,R013_S,CDKL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDKL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,166960774,166960777,TGAC,-,R013_S,TLL1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TLL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,65579642,65579642,A,-,R013_S,CRCP,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CRCP,dist=163,NA,NA,NA,NA,NA,NA,NA,NA
chr7,158055673,158055674,AC,-,R013_S,PTPRN2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17111198,17111199,GT,-,R013_S,PIK3C2A,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,PIK3C2A,NM_002645:c.*87_*86delAC;NM_001321380:c.*87_*86delAC;NM_001321378:c.*87_*86delAC,NA,NA,NA,NA,NA,NA,NA,NA
chr14,51090102,51090102,-,AT,R013_S,ATL1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ATL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65204695,65204695,-,GGA,R013_S,PLEKHG3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PLEKHG3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,93930925,93930929,AGTCA,-,R013_S,UNC79,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UNC79,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,67670473,67670474,TA,-,R013_S,CTCF,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CTCF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50086288,50086288,A,-,R013_S,PRRG2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRRG2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50366896,50366896,G,-,R013_S,PNKP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNKP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,16056942,16056942,-,A,R014_F,PLEKHM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,109650485,109650485,A,-,R014_F,C1orf194,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C1orf194,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,160327204,160327204,T,-,R014_F,NCSTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCSTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,176665103,176665122,TGTGTGTGTGTGTGTGTGTG,-,R014_F,PAPPA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PAPPA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,179401565,179401565,T,-,R014_F,AXDND1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AXDND1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,205197541,205197541,T,-,R014_F,TMCC2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,TMCC2,NM_014858:c.-152del-,NA,NA,NA,NA,NA,NA,NA,NA
chr2,55871933,55871933,T,-,R014_F,PNPT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PNPT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153405770,153405770,-,C,R014_F,FMNL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158637137,158637137,A,-,R014_F,ACVR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACVR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,162875478,162875478,T,-,R014_F,DPP4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPP4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,131253882,131253882,-,A,R014_F,CPNE4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CPNE4,NM_153429:c.*156_*157insT;NM_001289112:c.*156_*157insT;NM_130808:c.*156_*157insT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,184552423,184552423,T,-,R014_F,VPS8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57356470,57356470,-,T,R014_F,SRP72,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SRP72,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,63802637,63802637,T,-,R014_F,RGS7BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RGS7BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24580185,24580185,-,A,R014_F,KIAA0319,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0319,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,50811238,50811238,T,-,R014_F,TFAP2B,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TFAP2B,NM_003221:c.*133delT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,82943976,82943979,AAAC,-,R014_F,IBTK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IBTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,88125701,88125701,-,A,R014_F,CFAP206,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP206,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,89911032,89911035,AAAT,-,R014_F,GABRR1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GABRR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,157495853,157495854,TA,-,R014_F,ARID1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARID1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2966445,2966445,T,-,R014_F,CARD11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6185969,6185969,A,-,R014_F,USP42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,64276251,64276254,AGTG,-,R014_F,ZNF138,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF138,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,111474750,111474750,A,-,R014_F,DOCK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DOCK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,3045610,3045610,-,TA,R014_F,CSMD1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CSMD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,42798395,42798395,T,-,R014_F,HOOK3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HOOK3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,103276944,103276944,-,A,R014_F,UBR5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBR5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,71827345,71827345,T,-,R014_F,TJP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TJP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,93650759,93650759,A,-,R014_F,SYK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SYK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,123996880,123996880,T,-,R014_F,TACC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TACC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62557914,62557914,T,-,R014_F,TMEM223,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TMEM223,NM_001080501:c.*181delA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118210424,118210424,-,ACAC,R014_F,CD3D,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CD3D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,131623850,131623850,-,C,R014_F,ADGRD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADGRD1,NM_001330497:c.*42_*43insC;NM_198827:c.*42_*43insC,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79848699,79848699,-,A,R014_F,ANAPC11,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,ANAPC11,NM_001289414:c.-3655_-3654insA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10683551,10683552,AG,-,R014_F,AP1M2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,AP1M2,NM_001300887:c.*191_*190delCT;NM_005498:c.*191_*190delCT,NA,NA,NA,NA,NA,NA,NA,NA
chr19,37617892,37617892,-,TAT,R014_F,ZNF420,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,ZNF420,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43325743,43325743,A,-,R014_F,C2CD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C2CD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,113965680,113965680,T,-,R014_F,HTR2C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HTR2C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,8029501,8029501,G,-,R014_S,PARK7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PARK7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,84641417,84641417,T,-,R014_S,PRKACB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKACB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100588106,100588106,T,-,R014_S,SASS6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SASS6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,20194225,20194228,CATA,-,R014_S,LOC101928222,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC101928222,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,138033617,138033617,T,-,R014_S,THSD7B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THSD7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,153405770,153405770,-,C,R014_S,FMNL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FMNL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,97202756,97202756,C,-,R014_S,EPHA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,120394749,120394749,A,-,R014_S,HGD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HGD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,131253882,131253882,-,A,R014_S,CPNE4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,CPNE4,NM_153429:c.*156_*157insT;NM_001289112:c.*156_*157insT;NM_130808:c.*156_*157insT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37195931,37195931,T,-,R014_S,CPLANE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPLANE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,86669965,86669965,T,-,R014_S,CCNH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCNH;RASA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,122165471,122165484,ACACACACACACAC,-,R014_S,SNX2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,SNX2,NM_001278199:c.*128_*141delACACACACACACAC;NM_003100:c.*128_*141delACACACACACACAC,NA,NA,NA,NA,NA,NA,NA,NA
chr6,24580185,24580185,-,A,R014_S,KIAA0319,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0319,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,82943976,82943979,AAAC,-,R014_S,IBTK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,IBTK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6185968,6185968,-,A,R014_S,USP42,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP42,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,107603170,107603171,AG,-,R014_S,LAMB1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LAMB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129099949,129099949,T,-,R014_S,STRIP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STRIP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134890957,134890958,CA,-,R014_S,WDR91,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,WDR91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,17065380,17065380,A,-,R014_S,ZDHHC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZDHHC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,109462216,109462216,T,-,R014_S,EMC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,69750209,69750209,-,A,R014_S,HERC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HERC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,17522587,17522588,TC,-,R014_S,USH1C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,USH1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,85722238,85722238,-,A,R014_S,PICALM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PICALM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,27647421,27647423,TTA,-,R014_S,SMCO2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SMCO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,131623850,131623850,-,C,R014_S,ADGRD1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ADGRD1,NM_001330497:c.*42_*43insC;NM_198827:c.*42_*43insC,NA,NA,NA,NA,NA,NA,NA,NA
chr12,133375067,133375067,A,-,R014_S,GOLGA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GOLGA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10574906,10574917,TCACATTTCAGC,-,R014_S,ATF7IP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATF7IP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9225388,9225388,A,-,R014_S,OR7G1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR7G1,dist=116,NA,NA,NA,NA,NA,NA,NA,NA
chr19,9408812,9408812,T,-,R014_S,ZNF699,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF699,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54396046,54396046,-,CACA,R014_S,PRKCG,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PRKCG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,30409662,30409662,T,-,R014_S,HORMAD2-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HORMAD2-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,53654501,53654502,TA,-,R014_S,HUWE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HUWE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,96192173,96192182,CCTAAATATG,-,R014_S,DIAPH2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DIAPH2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,109388126,109388134,CCTATGTAA,-,R014_S,TMEM164,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMEM164,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19439406,19439408,AAG,-,R015_F,UBR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,38185404,38185405,AC,-,R015_F,EPHA10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,EPHA10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225971288,225971290,AAG,-,R015_F,SRP9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61245604,61245604,-,T,R015_F,PEX13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,166847650,166847653,CAGT,-,R015_F,LOC102724058,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,LOC102724058,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233834785,233834785,A,-,R015_F,NGEF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NGEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,66312334,66312334,A,-,R015_F,SLC25A26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,187896883,187896884,AG,-,R015_F,FLJ42393,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,FLJ42393,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,67588231,67588234,AAAG,-,R015_F,PIK3R1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIK3R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,367660,367661,AC,-,R015_F,DUSP22,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,DUSP22;IRF4,dist=16305;dist=24091,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26430817,26430818,AA,-,R015_F,BTN2A3P,3'Flank,NA,NA,NA,NA,DEL,SNVindel,downstream,BTN2A3P,dist=1,NA,NA,NA,NA,NA,NA,NA,NA
chr6,70866387,70866388,GA,-,R015_F,COL19A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL19A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,66098581,66098582,TT,-,R015_F,KCTD7,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KCTD7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,48790203,48790203,T,-,R015_F,PRKDC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKDC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125010053,125010053,-,T,R015_F,RBM18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBM18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,125316567,125316567,-,A,R015_F,OR1N2,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,OR1N2,dist=74,NA,NA,NA,NA,NA,NA,NA,NA
chr9,138594013,138594013,A,-,R015_F,KCNT1,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,KCNT1,dist=18,NA,NA,NA,NA,NA,NA,NA,NA
chr10,134237262,134237263,TG,-,R015_F,PWWP2B,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,PWWP2B;C10orf91,dist=5904;dist=21430,NA,NA,NA,NA,NA,NA,NA,NA
chr12,57858309,57858309,A,-,R015_F,GLI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112306513,112306513,T,-,R015_F,MAPKAPK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPKAPK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121341536,121341536,C,-,R015_F,SPPL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPPL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,48922985,48922985,T,-,R015_F,RB1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RB1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111555788,111555792,AAGAA,-,R015_F,ANKRD10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANKRD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,40951462,40951462,A,-,R015_F,KNL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KNL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44952497,44952497,C,-,R015_F,SPG11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPG11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,63578709,63578709,-,T,R015_F,APH1B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,APH1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,85658636,85658640,CTTTT,-,R015_F,PDE8A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PDE8A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,16625243,16625243,G,-,R015_F,C19orf44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C19orf44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,10132438,10132438,T,-,R015_S,UBE4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,19439406,19439408,AAG,-,R015_S,UBR4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UBR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,156109380,156109381,GA,-,R015_S,LMNA,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,LMNA,NM_170708:c.*483_*484delGA;NM_001282626:c.*483_*484delGA;NM_170707:c.*483_*484delGA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,186105744,186105744,A,-,R015_S,HMCN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HMCN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,225971288,225971290,AAG,-,R015_S,SRP9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SRP9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235659622,235659622,A,-,R015_S,B3GALNT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,B3GALNT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,61245604,61245604,-,T,R015_S,PEX13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PEX13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,152359277,152359277,T,-,R015_S,NEB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,233834785,233834785,A,-,R015_S,NGEF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NGEF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,66312334,66312334,A,-,R015_S,SLC25A26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC25A26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113122582,113122582,-,GGAGTAA,R015_S,CFAP44,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CFAP44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,122737487,122737487,-,T,R015_S,EXOSC9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EXOSC9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,35788508,35788508,A,-,R015_S,SPEF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPEF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,67588231,67588234,AAAG,-,R015_S,PIK3R1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PIK3R1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,367660,367661,AC,-,R015_S,DUSP22,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,DUSP22;IRF4,dist=16305;dist=24091,NA,NA,NA,NA,NA,NA,NA,NA
chr7,105429197,105429227,AAGTCTCAGAAGGTGTACAGTTTCCTCTTGG,-,R015_S,ATXN7L1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ATXN7L1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,68073974,68073975,GT,-,R015_S,CSPP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CSPP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,113275445,113275445,T,-,R015_S,SVEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SVEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115985343,115985343,A,-,R015_S,SLC31A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC31A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,17432362,17432365,TTGT,-,R015_S,ST8SIA6-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ST8SIA6-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,132760957,132760958,GT,-,R015_S,MIR378C,5'Flank,NA,NA,NA,NA,DEL,SNVindel,upstream,MIR378C,dist=26,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67048741,67048758,CCTGCTGCTCCATGCACT,-,R015_S,GRK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GRK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,82550236,82550236,T,-,R015_S,PRCP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRCP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,92615752,92615752,C,-,R015_S,FAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,112306513,112306513,T,-,R015_S,MAPKAPK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAPKAPK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,121341536,121341536,C,-,R015_S,SPPL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPPL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,111555788,111555792,AAGAA,-,R015_S,ANKRD10,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ANKRD10,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58758280,58758281,AC,-,R015_S,PSMA3-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,PSMA3-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44952497,44952497,C,-,R015_S,SPG11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPG11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1872426,1872427,TA,-,R015_S,HAGH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HAGH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21272769,21272769,A,-,R015_S,CRYM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CRYM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,4215772,4215772,-,A,R015_S,ANKRD24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129055622,129055622,A,-,R015_S,UTP14A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UTP14A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24255844,24255844,-,TAT,R016_F,MIR378F,3'Flank,NA,NA,NA,NA,INS,SNVindel,downstream,MIR378F,dist=207,NA,NA,NA,NA,NA,NA,NA,NA
chr1,115399779,115399781,GAG,-,R016_F,SYCP1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,154525703,154525703,-,AG,R016_F,UBE2Q1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,UBE2Q1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39201074,39201075,TA,-,R016_F,ARHGEF33,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,ARHGEF33,NM_001145451:c.*90_*91delTA;NM_001367623:c.*947_*948delTA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,66662691,66662691,T,-,R016_F,MEIS1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MEIS1,NM_002398:c.-298del-,NA,NA,NA,NA,NA,NA,NA,NA
chr3,50599336,50599336,T,-,R016_F,C3orf18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C3orf18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,147500050,147500050,-,ATCATTGGT,R016_F,SPINK5,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SPINK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,135776772,135776772,T,-,R016_F,AHI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,126517244,126517244,T,-,R016_F,ABRAXAS2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABRAXAS2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76954563,76954566,AGGG,-,R016_F,GDPD4,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GDPD4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,39734364,39734365,TA,-,R016_F,MIA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MIA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,77244485,77244485,T,-,R016_F,VASH1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VASH1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,27446572,27446572,T,-,R016_F,MYO18A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO18A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,67081661,67081661,A,-,R016_F,ABCA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78796739,78796740,GT,-,R016_F,RPTOR,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RPTOR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,39870560,39870560,T,-,R016_F,ERG,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERG,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54117673,54117673,A,-,R016_F,FAM120C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM120C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,92790034,92790034,-,T,R016_S,RPAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,220982320,220982320,-,A,R016_S,1-Mar,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,1-Mar,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,66662691,66662691,T,-,R016_S,MEIS1,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,MEIS1,NM_002398:c.-298del-,NA,NA,NA,NA,NA,NA,NA,NA
chr2,225362653,225362653,-,TG,R016_S,CUL3,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CUL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,44310837,44310837,T,-,R016_S,TOPAZ1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOPAZ1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,113383082,113383086,ATAAT,-,R016_S,USF3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,USF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,138092023,138092047,GTTATGGGATGGTTGATATAAAGCC,-,R016_S,MRAS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MRAS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78694328,78694328,A,-,R016_S,CNOT6L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CNOT6L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83741997,83741998,AC,-,R016_S,SEC31A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SEC31A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,119746672,119746681,AATCACTGGG,-,R016_S,SEC24D,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SEC24D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,36122804,36122804,A,-,R016_S,LMBRD2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LMBRD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,26410420,26410420,A,-,R016_S,BTN3A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BTN3A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,49831218,49831219,GT,-,R016_S,SNAI2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,SNAI2,NM_003068:c.*148_*147delAC,NA,NA,NA,NA,NA,NA,NA,NA
chr9,34407470,34407474,AACTT,-,R016_S,FAM219A,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FAM219A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115985343,115985343,A,-,R016_S,SLC31A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC31A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,27390699,27390699,-,C,R016_S,LGR4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LGR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,108154878,108154878,T,-,R016_S,ATM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,674385,674385,G,-,R016_S,NINJ2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NINJ2,NM_016533:c.*16delC;NM_001367996:c.*16delC;NM_001294345:c.*16delC;NM_001294346:c.*16delC,NA,NA,NA,NA,NA,NA,NA,NA
chr12,15834239,15834239,-,TAATAA,R016_S,EPS8,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EPS8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,101727018,101727021,AGGA,-,R016_S,UTP20,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UTP20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,109680621,109680625,TATAA,-,R016_S,MYO16,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYO16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2030822,2030832,GAGCTTCAGCA,-,R016_S,TBL3,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,TBL3,NM_006453:c.*2136_*2146delGAGCTTCAGCA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,65839622,65839624,TCT,-,R016_S,LINC00922,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,LINC00922;CDH5,dist=229419;dist=560970,NA,NA,NA,NA,NA,NA,NA,NA
chr17,49270644,49270644,T,-,R016_S,MBTD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MBTD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,21595048,21595049,GT,-,R016_S,TTC39C-AS1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,TTC39C-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35445688,35445688,G,-,R016_S,SOGA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SOGA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,24199765,24199765,C,-,R016_S,SLC2A11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC2A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,84525287,84525287,T,-,R016_S,ZNF711,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF711,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,129349703,129349704,AT,-,R016_S,ZNF280C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ZNF280C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,110551590,110551590,-,A,R017_F,AHCYL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AHCYL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209153,145209155,GGC,-,R017_F,NOTCH2NLR,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,NOTCH2NLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,241729777,241729779,TCT,-,R017_F,KMO,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KMO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179400586,179400586,A,-,R017_F,TTN-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TTN-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,81630270,81630271,AG,-,R017_F,GBE1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GBE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,79768295,79768296,TA,-,R017_F,BMP2K,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BMP2K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,133707248,133707248,T,-,R017_F,CDKL3,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,CDKL3;UBE2B,dist=12,NA,NA,NA,NA,NA,NA,NA,NA
chr10,70210008,70210008,A,-,R017_F,DNA2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118960474,118960475,AG,-,R017_F,HMBS,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,HMBS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,54925871,54925871,-,T,R017_F,NCKAP1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NCKAP1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,88525006,88525006,A,-,R017_F,CEP290,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP290,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,10631617,10631617,-,CA,R017_F,EMP2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,EMP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,2674160,2674160,T,-,R017_F,SMCHD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMCHD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,3534693,3534693,T,-,R017_F,DLGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DLGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,46447624,46447624,A,-,R017_F,SMAD7,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SMAD7,NM_005904:c.*118delT;NM_001190823:c.*118delT;NM_001190822:c.*118delT;NM_001190821:c.*118delT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,22129815,22129816,TG,-,R017_F,PHEX,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PHEX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,24410884,24410888,AAAAG,-,R017_S,MYOM3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYOM3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52237925,52237925,-,T,R017_S,OSBPL9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OSBPL9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52897140,52897140,-,A,R017_S,TUT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TUT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,74818936,74818936,-,T,R017_S,FPGT-TNNI3K,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FPGT-TNNI3K;TNNI3K,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,120612224,120612226,GCC,-,R017_S,NOTCH2NLR,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,NOTCH2NLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,145209153,145209155,GGC,-,R017_S,NOTCH2NLR,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,NOTCH2NLR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,153790790,153790790,C,-,R017_S,GATAD2B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GATAD2B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155988253,155988253,T,-,R017_S,SSR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,183498191,183498191,-,T,R017_S,SMG7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMG7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237693610,237693610,-,A,R017_S,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,16086264,16086264,-,T,R017_S,MYCN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYCN,NM_001293233:c.*1375_*1376insT;NM_001293231:c.*45_*46insT;NM_001293228:c.*45_*46insT;NM_005378:c.*45_*46insT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,24306107,24306107,-,T,R017_S,FAM228B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM228B;TP53I3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27527936,27527939,GGAG,-,R017_S,TRIM54,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRIM54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,201881583,201881583,A,-,R017_S,FAM126B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FAM126B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9991858,9991858,-,A,R017_S,PRRT3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,PRRT3,NM_207351:exon2:UTR5;NM_001318871:exon2:UTR5,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185540911,185540911,-,A,R017_S,IGF2BP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGF2BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,74283733,74283733,T,-,R017_S,ALB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,96035820,96035825,CTGACT,-,R017_S,BMPR1B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BMPR1B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,141484371,141484371,-,A,R017_S,UCP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UCP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,40767499,40767499,T,-,R017_S,PRKAA1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRKAA1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177019685,177019685,-,C,R017_S,TMED9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMED9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84563976,84563977,TC,-,R017_S,RIPPLY2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,RIPPLY2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144183461,144183463,GTA,-,R017_S,LTV1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,LTV1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,151125572,151125572,-,C,R017_S,PLEKHG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLEKHG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,75182939,75182939,T,-,R017_S,HIP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HIP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,92826772,92826772,-,T,R017_S,HEPACAM2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEPACAM2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,128400006,128400006,-,TT,R017_S,CALU,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,CALU,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,157462117,157462117,-,CA,R017_S,PTPRN2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PTPRN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,27326839,27326840,GG,-,R017_S,CHRNA2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CHRNA2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,95507273,95507273,-,G,R017_S,VIRMA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VIRMA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,117784259,117784259,-,A,R017_S,UTP23,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,UTP23,NM_032334:c.*178_*179insA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,36589411,36589411,-,T,R017_S,MELK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MELK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,102814585,102814585,-,A,R017_S,ERP44,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ERP44,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,108456887,108456888,GA,-,R017_S,TMEM38B,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TMEM38B,NM_018112:c.-55_-54del-,NA,NA,NA,NA,NA,NA,NA,NA
chr9,115179054,115179054,-,A,R017_S,HSDL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HSDL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,132671111,132671111,T,-,R017_S,FNBP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FNBP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,63196057,63196057,-,A,R017_S,TMEM26,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM26,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,64944264,64944265,AG,-,R017_S,JMJD1C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,JMJD1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,27397699,27397699,-,TT,R017_S,LGR4,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LGR4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47364302,47364305,GGGT,-,R017_S,MYBPC3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47843828,47843829,AA,-,R017_S,NUP160,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NUP160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47843832,47843832,-,T,R017_S,NUP160,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP160,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,118370488,118370488,-,TG,R017_S,KMT2A,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,KMT2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56215612,56215612,-,C,R017_S,DNAJC14,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,DNAJC14;ORMDL2,NM_032364:c.*148_*149insG;NM_014182:c.*1433_*1434insC,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56562166,56562166,T,-,R017_S,SMARCC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,124069112,124069114,GGC,-,R017_S,TMED2,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,TMED2,NM_001321445:c.-72_-70del-;NM_006815:c.-72_-70del-,NA,NA,NA,NA,NA,NA,NA,NA
chr13,22113658,22113658,-,CTC,R017_S,MICU2,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,MICU2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,52673780,52673780,-,G,R017_S,NEK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NEK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91773333,91773334,TC,-,R017_S,CCDC88C,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CCDC88C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,38792540,38792540,-,T,R017_S,RASGRP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RASGRP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,78839148,78839148,-,C,R017_S,PSMA4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PSMA4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90176239,90176239,-,AGGGAGGGAGGGAGGG,R017_S,KIF7,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,KIF7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2342056,2342056,T,-,R017_S,ABCA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,74372597,74372597,A,-,R017_S,LOC283922,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,LOC283922,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,79632478,79632478,-,GT,R017_S,MAF,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,MAF,NM_001031804:c.*199_*200insAC,NA,NA,NA,NA,NA,NA,NA,NA
chr17,527001,527001,-,A,R017_S,VPS53,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS53,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,1584651,1584651,-,G,R017_S,PRPF8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PRPF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,42266285,42266285,-,T,R017_S,TMUB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMUB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,47000129,47000129,A,-,R017_S,UBE2Z,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBE2Z,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,46808295,46808295,-,A,R017_S,DYM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,46808322,46808322,T,-,R017_S,DYM,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DYM,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,38795953,38795955,CAG,-,R017_S,YIF1B,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,YIF1B,NM_001039671:c.*39_*37delCTG;NM_001145461:c.*39_*37delCTG;NM_001145462:c.*39_*37delCTG;NM_001039673:c.*39_*37delCTG;NM_001145463:c.*176_*174delCTG;NM_001039672:c.*39_*37delCTG,NA,NA,NA,NA,NA,NA,NA,NA
chr19,48660135,48660135,-,TG,R017_S,LIG1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,LIG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,52877482,52877482,T,-,R017_S,ZNF880,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF880,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,1457133,1457133,C,-,R017_S,SIRPB2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SIRPB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,3215049,3215049,-,CCAGCCC,R017_S,SLC4A11,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SLC4A11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34878498,34878498,A,-,R017_S,GART,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GART,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46048132,46048132,C,-,R017_S,KRTAP10-9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTAP10-9,NM_198690:c.*165delC,NA,NA,NA,NA,NA,NA,NA,NA
chr22,29938752,29938752,-,A,R017_S,THOC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,THOC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,45255533,45255534,CT,-,R017_S,ARHGAP8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ARHGAP8;PRR5-ARHGAP8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,96140183,96140183,-,A,R017_S,RPA4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,RPA4,NM_013347:c.*88_*89insA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,107683502,107683502,G,-,R017_S,COL4A5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55604693,55604693,A,-,R018_F,USP24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,89732536,89732537,AT,-,R018_F,GBP5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GBP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,196712562,196712564,CTT,-,R018_F,CFH,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,CFH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69043265,69043265,T,-,R018_F,ARHGAP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,166747308,166747308,A,-,R018_F,TTC21B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTC21B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203807442,203807442,T,-,R018_F,CARF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179470261,179470261,C,-,R018_F,USP13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48542096,48542096,A,-,R018_F,FRYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,78979258,78979259,GT,-,R018_F,FRAS1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FRAS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84290088,84290089,GA,-,R018_F,SNAP91,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SNAP91,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2317943,2317943,G,-,R018_F,SNX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,15058863,15058864,AA,-,R018_F,ACBD7-DCLRE1CP1,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_intronic,ACBD7-DCLRE1CP1;DCLRE1CP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43452742,43452744,AAC,-,R018_F,TMEM62,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMEM62,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,45430276,45430276,-,TGTGTG,R018_F,DUOX1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,DUOX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,62333412,62333412,A,-,R018_F,VPS13C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VPS13C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,38801696,38801696,T,-,R018_F,SMARCE1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SMARCE1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,100381988,100381988,-,A,R018_F,CENPI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,2733022,2733022,-,T,R018_F,RPS4Y1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS4Y1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,970562,970563,GT,-,R018_S,AGRN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AGRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,3751728,3751728,-,T,R018_S,CEP104,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP104,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,35879556,35879556,T,-,R018_S,ZMYM4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZMYM4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,100624000,100624000,-,T,R018_S,LRRC39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LRRC39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,155979253,155979264,TTGGAGTCTGGA,-,R018_S,SSR2,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,SSR2,NM_003145:c.*78_*67delTCCAGACTCCAA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,227218086,227218086,A,-,R018_S,CDC42BPA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC42BPA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237905571,237905571,T,-,R018_S,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,16086264,16086264,-,T,R018_S,MYCN,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MYCN,NM_001293233:c.*1375_*1376insT;NM_001293231:c.*45_*46insT;NM_001293228:c.*45_*46insT;NM_005378:c.*45_*46insT,NA,NA,NA,NA,NA,NA,NA,NA
chr2,69043265,69043265,T,-,R018_S,ARHGAP25,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP25,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,85858144,85858144,-,T,R018_S,USP39,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP39,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,86400704,86400704,A,-,R018_S,IMMT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IMMT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,158390652,158390652,-,T,R018_S,ACVR1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACVR1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,183806893,183806893,-,A,R018_S,NCKAP1,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NCKAP1,NM_013436:exon24:c.2602-2->T;NM_205842:exon25:c.2620-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr2,197709174,197709174,A,-,R018_S,PGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,203807442,203807442,T,-,R018_S,CARF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,215274833,215274834,TC,-,R018_S,SPAG16,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SPAG16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,227968771,227968771,-,A,R018_S,COL4A4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL4A4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,10427116,10427116,-,A,R018_S,ATP2B2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP2B2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,14190590,14190590,T,-,R018_S,XPC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,122821477,122821477,-,A,R018_S,PDIA5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDIA5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,170109113,170109113,T,-,R018_S,SKIL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SKIL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,179470261,179470261,C,-,R018_S,USP13,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20611617,20611617,-,T,R018_S,SLIT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLIT2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,20706068,20706068,T,-,R018_S,PACRGL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PACRGL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48542096,48542096,A,-,R018_S,FRYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,73941877,73941877,-,T,R018_S,ANKRD17,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,ANKRD17,NM_001286771:c.*70_*71insA;NM_015574:c.*70_*71insA;NM_198889:c.*70_*71insA;NM_032217:c.*70_*71insA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,83740163,83740163,-,T,R018_S,SEC31A,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SEC31A,NM_001318119:c.*63_*64insA;NM_001191049:c.*63_*64insA;NM_001077208:c.*63_*64insA;NM_001318120:c.*63_*64insA;NM_016211:c.*63_*64insA;NM_001077206:c.*63_*64insA;NM_001300745:c.*63_*64insA;NM_001300744:c.*63_*64insA;NM_001077207:c.*63_*64insA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,155505987,155505987,-,A,R018_S,FGA,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,FGA,NM_000508:exon6:c.1892-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr4,184114632,184114632,-,T,R018_S,WWC2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WWC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,37051861,37051861,-,T,R018_S,NIPBL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NIPBL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,54603687,54603687,A,-,R018_S,DHX29,5'Flank,NA,NA,NA,NA,SNP,SNVindel,upstream,DHX29;MTREX,dist=130,NA,NA,NA,NA,NA,NA,NA,NA
chr5,61887337,61887337,-,A,R018_S,IPO11-LRRC70,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,IPO11-LRRC70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75003452,75003452,-,C,R018_S,POC5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,POC5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75970228,75970228,-,A,R018_S,IQGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,160763793,160763794,AC,-,R018_S,GABRB2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GABRB2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,177697374,177697375,GA,-,R018_S,COL23A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL23A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,179150788,179150788,-,T,R018_S,CANX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CANX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,11233376,11233377,CT,-,R018_S,NEDD9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,NEDD9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,36294750,36294752,GAG,-,R018_S,BNIP5,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,BNIP5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,55142459,55142459,T,-,R018_S,HCRTR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HCRTR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,114181914,114181914,-,T,R018_S,MARCKS,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,MARCKS,NM_002356:c.*159_*160insT,NA,NA,NA,NA,NA,NA,NA,NA
chr6,144814626,144814627,TC,-,R018_S,UTRN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,UTRN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,158294105,158294106,TT,-,R018_S,SNX9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SNX9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,2317943,2317943,G,-,R018_S,SNX8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,5270695,5270695,-,A,R018_S,WIPI2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WIPI2,NM_001278299:c.*117_*118insA;NM_016003:c.*117_*118insA;NM_001033519:c.*117_*118insA;NM_001033518:c.*117_*118insA;NM_015610:c.*117_*118insA;NM_001033520:c.*117_*118insA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,6470058,6470058,-,T,R018_S,DAGLB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DAGLB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,33192288,33192288,-,T,R018_S,BBS9,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BBS9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100201231,100201231,C,-,R018_S,PCOLCE-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,PCOLCE-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,115897693,115897693,T,-,R018_S,TES,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TES,NM_015641:c.*157delT;NM_152829:c.*157delT,NA,NA,NA,NA,NA,NA,NA,NA
chr7,129679184,129679184,-,A,R018_S,ZC3HC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZC3HC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,140055426,140055427,AG,-,R018_S,SLC37A3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC37A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,22138819,22138819,-,A,R018_S,PIWIL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIWIL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,74890927,74890927,-,A,R018_S,TMEM70,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM70,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,97256382,97256382,-,T,R018_S,MTERF3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MTERF3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,101936665,101936665,T,-,R018_S,YWHAZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,YWHAZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,141542262,141542263,GA,-,R018_S,AGO2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,AGO2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,144921112,144921112,T,-,R018_S,NRBP2,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,NRBP2,NM_178564:exon9:c.689-2A>-,NA,NA,NA,NA,NA,NA,NA,NA
chr9,3937255,3937255,-,A,R018_S,GLIS3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GLIS3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,19350679,19350679,-,T,R018_S,DENND4C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DENND4C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,135357575,135357575,T,-,R018_S,CFAP77,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CFAP77,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,139996194,139996195,TG,-,R018_S,MAN1B1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAN1B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,11207166,11207166,-,C,R018_S,CELF2,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,CELF2,NM_001326346:c.-105550_-105549insC;NM_001326347:c.-112_-111insC;NM_001326348:c.-302_-301insC;NM_001326349:c.-302_-301insC;NM_001083591:c.-302_-301insC;NM_001025076:c.-302_-301insC,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18428552,18428552,-,A,R018_S,LDHA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LDHA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18600421,18600421,-,T,R018_S,UEVLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UEVLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,47364302,47364305,GGGT,-,R018_S,MYBPC3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBPC3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,59417201,59417201,-,T,R018_S,PATL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PATL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,62414350,62414350,-,A,R018_S,INTS5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,INTS5,NM_030628:c.*141_*142insT,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67787367,67787370,CTCT,-,R018_S,ALDH3B1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ALDH3B1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,76227406,76227406,-,A,R018_S,EMSY,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EMSY,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,51392897,51392897,-,A,R018_S,SLC11A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC11A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,52911637,52911637,-,A,R018_S,KRT5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KRT5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,102183695,102183695,-,A,R018_S,GNPTAB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GNPTAB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,122181461,122181461,-,A,R018_S,TMEM120B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM120B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,52741746,52741746,-,A,R018_S,PTGDR,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,PTGDR,NM_001281469:c.*344_*345insA;NM_000953:c.*64_*65insA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,74420122,74420122,-,T,R018_S,COQ6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COQ6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76352962,76352962,-,T,R018_S,TTLL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTLL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,76420882,76420882,T,-,R018_S,TTLL5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TTLL5,NM_015072:c.*93delT,NA,NA,NA,NA,NA,NA,NA,NA
chr14,81943647,81943647,-,TGTG,R018_S,SEL1L,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SEL1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92549604,92549604,-,A,R018_S,ATXN3,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,ATXN3,NM_001127697:exon5:c.323-2->T;NM_001164779:exon3:c.113-2->T;NM_001164781:exon5:c.266-2->T;NM_001164780:exon4:UTR5;NM_004993:exon7:c.476-2->T;NM_030660:exon6:c.311-2->T;NM_001127696:exon6:c.431-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43025474,43025474,A,-,R018_S,CDAN1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDAN1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44914152,44914152,T,-,R018_S,SPG11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPG11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,64419305,64419305,A,-,R018_S,SNX1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SNX1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,72260473,72260473,-,A,R018_S,MYO9A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MYO9A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,2342075,2342075,A,-,R018_S,ABCA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABCA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,4940396,4940396,T,-,R018_S,PPL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,21118021,21118023,ATC,-,R018_S,DNAH3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNAH3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,30532728,30532728,A,-,R018_S,ITGAL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ITGAL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,54967858,54967859,GA,-,R018_S,IRX5,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,IRX5,NM_005853:c.*73_*74delGA;NM_001252197:c.*73_*74delGA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,57246810,57246810,-,A,R018_S,RSPRY1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RSPRY1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,81058251,81058251,-,A,R018_S,CENPN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CENPN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,4712564,4712565,TC,-,R018_S,PLD2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLD2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,21202383,21202383,G,-,R018_S,MAP2K3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP2K3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,62528251,62528251,-,T,R018_S,CEP95,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP95,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,78164412,78164412,A,-,R018_S,CARD14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CARD14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,29481078,29481078,-,T,R018_S,TRAPPC8,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRAPPC8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,77013286,77013286,-,T,R018_S,ATP9B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ATP9B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,10291323,10291325,TCA,-,R018_S,DNMT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DNMT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,17753824,17753824,-,T,R018_S,UNC13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UNC13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,42407086,42407086,-,T,R018_S,ARHGEF1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGEF1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,54665053,54665053,-,T,R018_S,TMC4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMC4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10438806,10438806,-,T,R018_S,SLX4IP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLX4IP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,35696592,35696592,A,-,R018_S,RBL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40650627,40650627,-,A,R018_S,BRWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40871690,40871690,-,T,R018_S,SH3BGR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SH3BGR;WRB-SH3BGR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,43974156,43974156,-,T,R018_S,SLC37A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC37A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,44450371,44450380,GTGTGTGTGT,-,R018_S,PKNOX1,3'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR3,PKNOX1,NM_001286258:c.*160_*169delGTGTGTGTGT;NM_001320694:c.*160_*169delGTGTGTGTGT;NM_004571:c.*160_*169delGTGTGTGTGT,NA,NA,NA,NA,NA,NA,NA,NA
chr21,46048132,46048132,C,-,R018_S,KRTAP10-9,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,KRTAP10-9,NM_198690:c.*165delC,NA,NA,NA,NA,NA,NA,NA,NA
chr21,47337485,47337486,TC,-,R018_S,PCBP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PCBP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,42997945,42997946,TC,-,R018_S,POLDIP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,POLDIP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,15509449,15509449,A,-,R018_S,PIR,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PIR,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,16871712,16871712,-,A,R018_S,RBBP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBBP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,40573204,40573204,-,T,R018_S,MED14,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MED14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54467087,54467100,CAAGCTGACTTGGT,-,R018_S,TSR2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TSR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,80047490,80047490,-,T,R018_S,BRWD3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRWD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrY,2733022,2733022,-,T,R018_S,RPS4Y1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RPS4Y1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,10132118,10132118,-,T,R019_F,GRHL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GRHL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,119734895,119734896,AG,-,R019_F,MARCO,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MARCO,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,178528764,178528764,-,T,R019_F,PDE11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,136082398,136082398,A,-,R019_F,STAG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,148757291,148757291,T,-,R019_F,HLTF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HLTF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,107156368,107156370,CTT,-,R019_F,TBCK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TBCK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,139163251,139163252,AC,-,R019_F,SLC7A11,5'UTR,NA,NA,NA,NA,DEL,SNVindel,UTR5,SLC7A11,NM_014331:c.-28_-29delGT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,137451362,137451362,T,-,R019_F,NME5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,NME5,NM_003551:c.*8delA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,57358564,57358564,G,-,R019_F,LOC101929415,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101929415,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,92998986,92998986,-,T,R019_F,RUNX1T1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RUNX1T1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,76467911,76467911,-,A,R019_F,ADK,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,60296729,60296730,TT,-,R019_F,MS4A13,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MS4A13,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66258711,66258713,CTT,-,R019_F,DPP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67351529,67351529,-,G,R019_F,GSTP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,79747228,79747229,CT,-,R019_F,SYT1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SYT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,88429917,88429917,A,-,R019_F,GALC,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GALC,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,1500708,1500708,-,C,R019_F,CLCN7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CLCN7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,77851088,77851088,T,-,R019_F,VAT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,15468766,15468766,A,-,R019_F,CDRT1,3'Flank,NA,NA,NA,NA,SNP,SNVindel,downstream,CDRT1,dist=30,NA,NA,NA,NA,NA,NA,NA,NA
chr19,1506711,1506711,C,-,R019_F,ADAMTSL5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ADAMTSL5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41310149,41310149,A,-,R019_F,XPNPEP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPNPEP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49030777,49030778,GT,-,R019_F,PLP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,7980985,7980985,-,A,R019_S,TNFRSF9,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,TNFRSF9,NM_001561:exon9:c.680-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,52507010,52507010,-,A,R019_S,TXNDC12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TXNDC12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,55604692,55604692,-,A,R019_S,USP24,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP24,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,62189460,62189460,-,A,R019_S,TM2D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TM2D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,63836750,63836750,-,A,R019_S,ALG6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ALG6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,65234216,65234216,-,T,R019_S,RAVER2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAVER2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,75669619,75669619,-,TTG,R019_S,SLC44A5,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SLC44A5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,97700329,97700329,-,T,R019_S,DPYD-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DPYD-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,101456192,101456192,-,A,R019_S,DPH5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DPH5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,103380470,103380470,-,T,R019_S,COL11A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL11A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,112043252,112043253,GA,-,R019_S,ADORA3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,ADORA3;TMIGD3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,163038838,163038838,-,T,R019_S,RGS4,5'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR5,RGS4,NM_005613:c.-437_-436insT,NA,NA,NA,NA,NA,NA,NA,NA
chr1,235938388,235938388,-,A,R019_S,LYST,Splice_Site,NA,NA,NA,NA,SNP,SNVindel,splicing,LYST,NM_000081:exon18:c.5461-2->T;NM_001301365:exon18:c.5461-2->T,NA,NA,NA,NA,NA,NA,NA,NA
chr1,236722478,236722478,-,A,R019_S,HEATR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,HEATR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr1,237875200,237875200,T,-,R019_S,RYR2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,27527936,27527939,GGAG,-,R019_S,TRIM54,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TRIM54,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,39075646,39075646,-,A,R019_S,DHX57,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DHX57,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,46228391,46228391,-,AT,R019_S,PRKCE,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PRKCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,64335290,64335290,-,A,R019_S,PELI1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PELI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,71645628,71645628,-,T,R019_S,ZNF638,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF638,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74756111,74756111,-,A,R019_S,AUP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AUP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,74777281,74777282,GT,-,R019_S,DOK1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DOK1;LOXL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,109421324,109421324,-,T,R019_S,CCDC138,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CCDC138,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,178528764,178528764,-,T,R019_S,PDE11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDE11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,179669244,179669244,-,A,R019_S,TTN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TTN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr2,192011486,192011486,A,-,R019_S,STAT4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,STAT4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,9000767,9000767,-,A,R019_S,RAD18,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAD18,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,20212754,20212754,-,A,R019_S,SGO1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SGO1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,32933427,32933427,-,T,R019_S,TRIM71,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRIM71,NM_001039111:c.*124_*125insT,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38265478,38265478,-,T,R019_S,OXSR1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,OXSR1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38593128,38593128,-,G,R019_S,SCN5A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN5A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,38904827,38904827,-,T,R019_S,SCN11A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SCN11A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,53213815,53213815,-,GT,R019_S,PRKCD,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,PRKCD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,62318806,62318807,TG,-,R019_S,C3orf14,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,C3orf14,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,65361384,65361385,AG,-,R019_S,MAGI1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MAGI1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,69336795,69336795,-,T,R019_S,FRMD4B,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRMD4B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,89448446,89448446,-,T,R019_S,EPHA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EPHA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,100569452,100569452,-,T,R019_S,ABI3BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ABI3BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,141923491,141923491,-,A,R019_S,GK5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GK5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,150916130,150916130,-,TG,R019_S,GPR171,3'UTR,NA,NA,NA,NA,INS,SNVindel,UTR3,GPR171,NM_013308:c.*83_*84insCA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,164748663,164748663,-,A,R019_S,SI,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SI,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,168269865,168269865,A,-,R019_S,EGFEM1P,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,EGFEM1P,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,172694861,172694861,-,A,R019_S,SPATA16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPATA16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,183821907,183821907,-,T,R019_S,HTR3E-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,HTR3E-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr3,185540911,185540911,-,A,R019_S,IGF2BP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IGF2BP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,17964528,17964528,-,A,R019_S,LCORL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LCORL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,48595899,48595899,-,A,R019_S,FRYL,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FRYL,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,57677781,57677781,A,-,R019_S,SPINK2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SPINK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,68531152,68531152,-,G,R019_S,UBA6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UBA6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,107156368,107156370,CTT,-,R019_S,TBCK,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TBCK,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,110932196,110932196,-,A,R019_S,EGF,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EGF,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,146770389,146770389,-,T,R019_S,ZNF827,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZNF827,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr4,177100754,177100754,-,T,R019_S,WDR17,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,WDR17,NM_181265:c.*24_*25insT;NM_170710:c.*24_*25insT;NM_001350727:c.*24_*25insT,NA,NA,NA,NA,NA,NA,NA,NA
chr5,1260516,1260517,CA,-,R019_S,TERT,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TERT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr5,75858199,75858199,-,T,R019_S,IQGAP2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17662089,17662089,A,-,R019_S,NUP153,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NUP153,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,17773893,17773893,-,T,R019_S,KIF13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35427000,35427000,-,T,R019_S,FANCE,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FANCE,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,35554625,35554625,T,-,R019_S,FKBP5,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,FKBP5,NM_001145777:c.*128delA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,84645929,84645929,-,T,R019_S,CYB5R4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CYB5R4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,110113763,110113763,-,T,R019_S,FIG4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,FIG4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,111281584,111281584,-,T,R019_S,GTF3C6,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GTF3C6,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,117859721,117859721,-,T,R019_S,DCBLD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DCBLD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr6,161469631,161469631,-,T,R019_S,MAP3K4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,22206774,22206774,-,A,R019_S,RAPGEF5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RAPGEF5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,35288459,35288460,AG,-,R019_S,TBX20,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TBX20,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,81765996,81765996,-,A,R019_S,CACNA2D1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CACNA2D1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,94030856,94030856,-,T,R019_S,COL1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,COL1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,95217195,95217195,T,-,R019_S,PDK4,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDK4,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,100841828,100841828,G,-,R019_S,MOGAT3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MOGAT3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,122757720,122757720,A,-,R019_S,SLC13A1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC13A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,134252865,134252865,-,A,R019_S,AKR1B15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,AKR1B15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr7,142032116,142032117,TG,-,R019_S,TRY2P,IGR,NA,NA,NA,NA,DEL,SNVindel,intergenic,TRY2P;MIR11400,dist=60048;dist=125225,NA,NA,NA,NA,NA,NA,NA,NA
chr7,150884266,150884266,-,AG,R019_S,ASB10,5'UTR,NA,NA,NA,NA,INS,SNVindel,UTR5,ASB10,NM_001142459:c.-50_-49insCT;NM_001142460:c.-50_-49insCT,NA,NA,NA,NA,NA,NA,NA,NA
chr8,57358564,57358564,G,-,R019_S,LOC101929415,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_exonic,LOC101929415,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr8,121322336,121322337,TC,-,R019_S,COL14A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL14A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,5361257,5361257,-,A,R019_S,PLGRKT,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PLGRKT,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,13143347,13143347,-,T,R019_S,MPDZ,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MPDZ,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr9,111798423,111798423,-,A,R019_S,TMEM245,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TMEM245,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,32106657,32106657,-,A,R019_S,ARHGAP12,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARHGAP12,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,42924561,42924594,CACCTTTGCTTGATATGATAATATAGTGCCAAGG,-,R019_S,CCNYL2,RNA,NA,NA,NA,NA,DEL,SNVindel,ncRNA_exonic,CCNYL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,64935992,64935992,-,T,R019_S,JMJD1C,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JMJD1C,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,104449587,104449587,A,-,R019_S,ARL3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ARL3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr10,124711351,124711351,-,A,R019_S,C10orf88,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,C10orf88,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,18600421,18600421,-,T,R019_S,UEVLD,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,UEVLD,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,66258711,66258713,CTT,-,R019_S,DPP3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,DPP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr11,67351529,67351529,-,G,R019_S,GSTP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GSTP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,14949720,14949720,-,A,R019_S,WBP11,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,WBP11,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,21457515,21457515,A,-,R019_S,SLCO1A2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLCO1A2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,39716416,39716416,-,T,R019_S,KIF21A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIF21A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,48388268,48388269,GA,-,R019_S,COL2A1,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,COL2A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,56999550,56999550,T,-,R019_S,BAZ2A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAZ2A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,70990134,70990134,C,-,R019_S,PTPRB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PTPRB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,94703662,94703662,T,-,R019_S,CEP83,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP83,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr12,105198776,105198776,-,A,R019_S,SLC41A2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,SLC41A2,NM_001352169:c.*153_*154insT;NM_001352170:c.*153_*154insT;NM_032148:c.*153_*154insT;NM_001352171:c.*153_*154insT;NM_001352172:c.*153_*154insT,NA,NA,NA,NA,NA,NA,NA,NA
chr12,110454330,110454330,T,-,R019_S,ANKRD13A,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ANKRD13A,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,22246458,22246459,TC,-,R019_S,FGF9,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,FGF9,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,114150357,114150358,GA,-,R019_S,TMCO3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TMCO3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr13,115004335,115004335,T,-,R019_S,CDC16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CDC16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,20845374,20845374,-,A,R019_S,TEP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TEP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,58949210,58949210,-,T,R019_S,KIAA0586,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,KIAA0586,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,65019693,65019693,-,T,R019_S,PPP1R36,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPP1R36,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,91007945,91007946,AG,-,R019_S,TTC7B,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TTC7B,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr14,92604780,92604780,-,T,R019_S,CPSF2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CPSF2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,31293995,31293995,-,A,R019_S,TRPM1,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TRPM1,NM_001252020:c.*29_*30insT;NM_002420:c.*29_*30insT;NM_001252024:c.*29_*30insT,NA,NA,NA,NA,NA,NA,NA,NA
chr15,33915964,33915964,-,T,R019_S,RYR3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RYR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,43701946,43701946,-,A,R019_S,TUBGCP4,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TUBGCP4,NM_001286414:c.*4534_*4535insA;NM_014444:c.*4534_*4535insA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,44060896,44060896,T,-,R019_S,PDIA3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PDIA3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,51689648,51689649,TC,-,R019_S,GLDN,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,GLDN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,55789793,55789793,-,A,R019_S,DNAAF4-CCPG1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DNAAF4-CCPG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,66828148,66828148,T,-,R019_S,ZWILCH,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ZWILCH,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,82456469,82456469,-,T,R019_S,EFL1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,EFL1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr15,90999351,90999351,-,A,R019_S,IQGAP1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,IQGAP1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,20429351,20429351,-,T,R019_S,ACSM5,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACSM5,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,47581480,47581480,-,T,R019_S,PHKB,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PHKB,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,53515564,53515564,-,T,R019_S,RBL2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,RBL2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,56921122,56921122,-,T,R019_S,SLC12A3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SLC12A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr16,77851088,77851088,T,-,R019_S,VAT1L,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,VAT1L,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,7306338,7306338,-,A,R019_S,TMEM256-PLSCR3,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,TMEM256-PLSCR3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,17796875,17796875,-,T,R019_S,TOM1L2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TOM1L2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,35550278,35550278,-,T,R019_S,ACACA,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,ACACA,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,40720379,40720379,-,A,R019_S,MLX,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MLX,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,57165878,57165878,-,T,R019_S,TRIM37,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,TRIM37,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,58733835,58733835,A,-,R019_S,PPM1D,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,PPM1D,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,60683649,60683650,CA,-,R019_S,TLK2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,TLK2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,63632102,63632102,A,-,R019_S,CEP112,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP112,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,73664546,73664546,-,T,R019_S,SAP30BP,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,SAP30BP,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr17,79418983,79418983,-,C,R019_S,BAHCC1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BAHCC1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,2922260,2922260,A,-,R019_S,LPIN2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,LPIN2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,13099601,13099601,-,T,R019_S,CEP192,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,CEP192,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,28923778,28923778,-,T,R019_S,DSG1-AS1,RNA,NA,NA,NA,NA,SNP,SNVindel,ncRNA_intronic,DSG1-AS1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr18,56412882,56412882,-,T,R019_S,MALT1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MALT1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,35993606,35993606,-,A,R019_S,DMKN,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,DMKN,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,50946648,50946649,GA,-,R019_S,MYBPC2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,MYBPC2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr19,55446084,55446084,-,T,R019_S,NLRP7,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NLRP7,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,10632684,10632684,-,T,R019_S,JAG1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,JAG1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,45192255,45192256,GA,-,R019_S,SLC13A3,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,SLC13A3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52557950,52557950,-,GTGTGTGTGCGCGCGC,R019_S,SUMO1P1,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,SUMO1P1;BCAS1,dist=65702;dist=2127,NA,NA,NA,NA,NA,NA,NA,NA
chr20,52557958,52557958,-,GCGCGCGTGTGTGT,R019_S,SUMO1P1,IGR,NA,NA,NA,NA,INS,SNVindel,intergenic,SUMO1P1;BCAS1,dist=65710;dist=2119,NA,NA,NA,NA,NA,NA,NA,NA
chr21,30400154,30400154,-,T,R019_S,USP16,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,USP16,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,34903298,34903298,-,T,R019_S,GART,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,GART,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr21,40650627,40650627,-,A,R019_S,BRWD1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,BRWD1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,41310149,41310149,A,-,R019_S,XPNPEP3,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,XPNPEP3,NA,NA,NA,NA,NA,NA,NA,NA,NA
chr22,44223635,44223635,-,CACA,R019_S,SULT4A1,Intron,NA,NA,NA,NA,INS,SNVindel,intronic,SULT4A1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,17710353,17710353,-,T,R019_S,NHS,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NHS,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,19433196,19433196,-,A,R019_S,MAP3K15,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAP3K15,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,49030777,49030778,GT,-,R019_S,PLP2,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,PLP2,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,51637705,51637705,-,T,R019_S,MAGED1,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,MAGED1,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,54471045,54471045,-,T,R019_S,TSR2,3'UTR,NA,NA,NA,NA,SNP,SNVindel,UTR3,TSR2,NM_001346790:c.*62_*63insT;NM_001346792:c.*62_*63insT;NM_001346791:c.*62_*63insT;NM_001346789:c.*62_*63insT;NM_058163:c.*62_*63insT,NA,NA,NA,NA,NA,NA,NA,NA
chrX,56295959,56295960,TG,-,R019_S,KLF8,Intron,NA,NA,NA,NA,DEL,SNVindel,intronic,KLF8,NA,NA,NA,NA,NA,NA,NA,NA,NA
chrX,108785713,108785713,T,-,R019_S,NXT2,Intron,NA,NA,NA,NA,SNP,SNVindel,intronic,NXT2,NA,NA,NA,NA,NA,NA,NA,NA,NA